MECP2 Proband List



Nucleotide change Genomic name Amino acid change Type of sequence change Domain change Pathogenicity Phenotype Gender Proband ID View record
c.*156G>T g.153295662C>A 3' UTR variation 3' UTR Polymorphism not causing disease Not Rett synd. Female 6875 View details
c.*92C>T g.153295726G>A 3' UTR variation 3' UTR Polymorphism not causing disease Not Rett synd. Female 6874 View details
c.*9G>A g.153295809C>T 3' UTR variation 3' UTR Polymorphism not causing disease Not Rett synd. Female 6873 View details
c.1449G>A g.153295830C>T Missense C-term Polymorphism not causing disease Not Rett synd. Female 6872 View details
c.1330G>A g.153295949C>T Missense C-term Polymorphism not causing disease Not Rett synd. Female 6871 View details
c.1330G>A g.153295949C>T Missense C-term Polymorphism not causing disease Not Rett synd. Female 6870 View details
c.1330G>A g.153295949C>T Missense C-term Polymorphism not causing disease Not Rett synd. Female 6869 View details
c.1189G>A g.153296090C>T Missense C-term Polymorphism not causing disease Not Rett synd. Female 6867 View details
c.1197C>T g.153296082G>A silent C-term Silent polymorphism Not Rett synd. Female 6868 View details
c.1189G>A g.153296090C>T Missense C-term Polymorphism not causing disease Not Rett synd. Female 6866 View details
c.1168_1173del6 g.153296106_153296111del6 frameshift insertion or deletion C-term Unknown Not Rett synd. Female 6865 View details
c.1133C>G g.153296146G>C Missense C-term Polymorphism not causing disease Not Rett synd. Female 6864 View details
c.1035A>G g.153296244T>C silent C-term Silent polymorphism Not Rett synd. Female 6863 View details
c.996C>T g.153296283G>A silent C-term Silent polymorphism Not Rett synd. Female 6862 View details
c.897C>T g.153296382G>A silent TRD Silent polymorphism Not Rett synd. Female 6861 View details
c.897C>T g.153296382G>A silent TRD Silent polymorphism Not Rett synd. Female 6860 View details
c.834C>T g.153296445G>A silent TRD Silent polymorphism Rett syndrome-atypical Female 6859 View details
c.819G>T g.153296460C>A silent TRD Silent polymorphism Not Rett synd. Female 6858 View details
c.683C>G g.153296596G>C Missense TRD Polymorphism not causing disease Rett syndrome-classical Female 6857 View details
c.683C>G g.153296596G>C Missense TRD Polymorphism not causing disease Not Rett synd. Female 6856 View details
c.587C>G g.153296692G>C Missense inter-domain region Polymorphism not causing disease Not Rett synd. Female 6855 View details
c.582C>T g.153296697G>A silent inter-domain region Silent polymorphism Not Rett synd. Female 6853 View details
c.916C>T missense TRD Mutation associated with disease Rett syndrome-atypical Female 6876 View details
c.582C>T g.153296697G>A silent inter-domain region Silent polymorphism Not Rett synd. Female 6854 View details
c.378-17delT g.153296918delA intronic intronic Polymorphism not causing disease Not Rett synd. Female 6852 View details
c.378-17delT g.153296918delA intronic intronic Polymorphism not causing disease Not Rett synd. Female 6851 View details
c.378-17delT g.153296918delA intronic intronic Polymorphism not causing disease Not Rett synd. Female 6850 View details
c.378-65C>G g.153296966G>C intronic intronic Polymorphism not causing disease Not Rett synd. Female 6849 View details
c.378-74C>T g.153296975G>A intronic intronic Polymorphism not causing disease Not Rett synd. Female 6848 View details
c.377+22C>G g.153297636G>C intronic intronic Polymorphism not causing disease Not Rett synd. Female 6847 View details
c.375C>A g.153297660G>T silent MBD Silent polymorphism Not Rett synd. Female 6846 View details
MECP2_e1: c.45_47dupAGG in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd. Female 6845 View details
MECP2_e1: c.18_23dup6 in-frame insertion or deletion 5'UTR Polymorphism not causing disease Not Rett synd. Female 6844 View details
MECP2_e1: c.18_23dup6 in-frame insertion or deletion 5'UTR Polymorphism not causing disease Not Rett synd. Female 6843 View details
MECP2_e1: c.18_23dup6 in-frame insertion or deletion 5'UTR Polymorphism not causing disease Rett syndrome-atypical Female 6842 View details
MECP2_e1: c.18_23dup6 in-frame insertion or deletion 5'UTR Polymorphism not causing disease Rett syndrome-atypical Female 6841 View details
MECP2_e1: c.18_23dup6 in-frame insertion or deletion 5'UTR Polymorphism not causing disease Not Rett synd. Male 6840 View details
MECP2_e1:c.-235G>T Missense 5'UTR Polymorphism not causing disease Not Rett synd. Female 6839 View details
c.1189G>A g.153296090C>T missense C-term Polymorphism not causing disease Not Rett synd. Female 6914 View details
c.419C>T g.153296860G>A missense MBD Mutation associated with disease Not Rett synd. Male 6913 View details
c.608C>T g.153296671G>A missense Inter-domain region Polymorphism not causing disease Not Rett synd. Male 6911 View details
c.1255C>T g.153296024G>A missense C-term Unknown Not Rett synd. Female 6912 View details
c.1193A>C g.153296086T>G missense C-term Polymorphism not causing disease Not Rett synd. Male 6910 View details
c.1316C>T g.153295963G>A missense C-term Polymorphism not causing disease Not Rett synd. Female 6909 View details
c.590C>T g.153296689G>A missense Inter-domain region Polymorphism not causing disease Not Rett synd. Female 6908 View details
c.426C>T g.153296853G>A missense MBD Silent polymorphism Not Rett synd. Male 6907 View details
MECP2_e1: c.1225G>A g.153296090C>T missense C-term Polymorphism not causing disease Not Rett synd. Female 6905 View details
c.1330G>A g.153295949C>T missense C-term Polymorphism not causing disease Not Rett synd. Female 6906 View details
c.1358G>A g.153295921C>T missense C-term Unknown Not Known Female 6904 View details
c.752C>G g.153296527G>C missense TRD Unknown Not Known Female 6903 View details
c.1189G>A g.153296090C>T nonsense C-term Polymorphism not causing disease Not Known Female 6902 View details
c.1330G>A g.153295949C>T missense C-term Polymorphism not causing disease Not Known Female 6896 View details
c.763C>T g.153296516G>A nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 6897 View details
MECP2_e1: c.45_47dup g.153363076_153363078dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Known Male 6899 View details
MECP2_e1: c.638C>T g.153296677G>A missense TRD Polymorphism not causing disease Not Known Male 6898 View details
MECP2_e1: c.653G>C g.153296662C>G missense TRD Unknown Not Known Female 6900 View details
MECP2_e1: c.1453G>C g.153295862C>G missense C-term Unknown Not Rett synd. Male 6901 View details
c.[26+22C>G(;)468C>G] g.[153357620G>C;153296811G>C] "intronic variation, p.Asp156Glu" missense MBD Unknown Rett syndrome-classical Female 2811 View details
c.[378-74C>T(;)473C>T] g.[153296975G>A;153296806G>A] "intronic variation, p.Thr158Met" intronic variation, missense intronic, MBD Mutation associated with disease Rett syndrome-Atypical Female 4336 View details
c.[377+28A>G(;)1014C>T] g.[153297630T>C;153296265G>A] "intronic variation, p.Thr338Thr" intronic variation, silent intronic, C-term Silent polymorphism Rett syndrome-Classical Female 4334 View details
c.[880C>T(;)*9G>A] g.[153296399G>A;153295809C>T] "p.Arg294*, 3'UTR variation" Nonsense, 3'UTR variation TRD, 3'UTR Mutation associated with disease Not Known Female 2041 View details
c.[916C>T(;)*98dupA] g.[153296363G>A;153295720dupT] "p.Arg306Cys, 3'UTR variation" missense, 3'UTR variation TRD, 3'UTR Mutation associated with disease Rett syndrome-classical Female 4299 View details
c.[1189G>A(;)*55C>G] g.[153296090C>T;153295763G>C] "p.Glu397Lys, 3'UTR variation" Missense, 3'UTR variation C-term, 3'UTR Polymorphism not causing disease Not Known Female 2055 View details
c.[473C>T(;)*14G>A] g.[153296806G>A;153295804C>T] "p.Thr158Met, 3'UTR variation" missense, 3'UTR variation MBD, 3'UTR Mutation associated with disease Rett syndrome-Atypical Female 4340 View details
c.*487G>C g.153295331C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 48 View details
c.*93G>A g.153295725C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 381 View details
c.*8C>T g.153295810G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 445 View details
c.*8C>T g.153295810G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 449 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 1386 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-Not certain Unknown 1541 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-Not certain Female 1913 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 1914 View details
c.*122delT g.153295696delA 3'UTR variation 3'UTR variation 3'UTR Unknown Rett syndrome-Not certain Female 1915 View details
c.*93G>A g.153295725C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 1978 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Known Female 2118 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 2119 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Known Female 2120 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 2121 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 2370 View details
c.*177G>C g.153295641C>G 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Female 2371 View details
c.*177G>C g.153295641C>G 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Female 2372 View details
c.*5348T>C g.153290470A>G 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Male 2373 View details
c.*5348T>C g.153290470A>G 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Female 2374 View details
c.*36G>C g.153295782C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 2494 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 2527 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 2528 View details
c.*92C>T g.153295726G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-Classical Female 2638 View details
c.*328G>A g.153295490C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-Classical Female 2639 View details
c.*328G>A g.153295490C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-Classical Female 2640 View details
c.*359G>C g.153295459C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-Classical Female 2641 View details
c.*363G>C g.153295455C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-Classical Female 2643 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2674 View details
c.*93G>A g.153295725C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2675 View details
c.*204G>A g.153295614C>T 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Male 2676 View details
c.*371G>C g.153295447C>G 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Male 2677 View details
c.*544G>A g.153295274C>T 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Unknown 2678 View details
c.*554G>A g.153295264C>T 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Male 2679 View details
c.*767G>T g.153295051C>A 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Unknown 2680 View details
c.*861T>G g.153294957A>C 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Male 2681 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2682 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2683 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2684 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2685 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2686 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2687 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2688 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2689 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2690 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2691 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2692 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2693 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2694 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2695 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2696 View details
c.*1368C>A g.153294450G>T 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Male 2697 View details
c.*1737G>A g.153294081C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2698 View details
c.*1737G>A g.153294081C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2699 View details
c.*1737G>A g.153294081C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2700 View details
c.*1737G>A g.153294081C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2701 View details
c.*1737G>A g.153294081C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2702 View details
c.*1737G>A g.153294081C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2703 View details
c.*1737G>A g.153294081C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2704 View details
c.*1737G>A g.153294081C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2705 View details
c.*2556T>A g.153293262A>T 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Male 2706 View details
c.*2657G>A g.153293161C>T 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Unknown 2707 View details
c.*2706G>A g.153293112C>T 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Female 2708 View details
c.*2956G>A g.153292862C>T 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Male 2709 View details
c.*3477G>A g.153292341C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2710 View details
c.*3477G>A g.153292341C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2711 View details
c.*3658C>T g.153292160G>A 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Unknown 2712 View details
c.*3878G>C g.153291940C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2713 View details
c.*4576A>C g.153291242T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2714 View details
c.*5486_*5487dupAT g.153290331_153290332dupAT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2715 View details
c.*7748C>T g.153288070G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2716 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2717 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2718 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2719 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2720 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2721 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2722 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2723 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2724 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2725 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2726 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2727 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2728 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2729 View details
c.*8503delC g.153287315delG 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2730 View details
c.*8503delC g.153287315delG 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2731 View details
c.*8503delC g.153287315delG 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2732 View details
c.*8503delC g.153287315delG 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2733 View details
c.*8503delC g.153287315delG 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2734 View details
c.*393G>A g.153295425C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2735 View details
c.*489G>C g.153295329C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2736 View details
c.*529G>T g.153295289C>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2737 View details
c.*806G>A g.153295012C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2738 View details
c.*831G>C g.153294987C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2739 View details
c.*875dupA g.153294943dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2740 View details
c.*1237T>C g.153294581A>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2741 View details
c.*3662A>G g.153292156T>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2742 View details
c.*4086_*4087delGT g.153291731_153291732delAC 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2743 View details
c.*5839C>T g.153289979G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 2744 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-classical Female 3049 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-atypical Female 3858 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 3859 View details
c.*1134G>A g.153294684C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-congenital Female 3860 View details
c.[*8500C>G];[*8503delC] 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 3861 View details
c.*8500C>G g.153287318G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 3862 View details
c.*8503delC g.153287315delG 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 3863 View details
c.*328G>A g.153295490C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 3978 View details
c.*328G>A g.153295490C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 3979 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4000 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4001 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4002 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4003 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4004 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4005 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4006 View details
c.*878C>G g.153294940G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4007 View details
c.*1737G>A g.153294081C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4008 View details
c.*1737G>A g.153294081C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4009 View details
c.*1737G>A g.153294081C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4010 View details
c.*1737G>A g.153294081C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4011 View details
c.*1737G>A g.153294081C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4012 View details
c.*3477G>A g.153292341C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4013 View details
c.*3477G>A g.153292341C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4014 View details
c.*3477G>A g.153292341C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4015 View details
c.*3878G>C g.153291940C>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4016 View details
c.*4576A>C g.153291242T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4017 View details
c.*4576A>C g.153291242T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4018 View details
c.*5486_*5487dupAT g.153290331_153290332dupAT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4019 View details
c.*7748C>T g.153288070G>A 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4020 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4021 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4022 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4023 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4024 View details
c.*7856A>C g.153287962T>G 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4025 View details
c.*8503delC g.153287315delG 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4026 View details
c.*8503delC g.153287315delG 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4027 View details
c.*8503delC g.153287315delG 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4028 View details
c.*8503delC g.153287315delG 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4029 View details
c.*8503delC g.153287315delG 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4030 View details
c.*8503dupC g.153287315dupG 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4031 View details
c.*8503dupC g.153287315dupG 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4032 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4043 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4048 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 4049 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4201 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 4202 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4203 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4204 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4205 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4206 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4207 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4208 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4209 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4210 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4211 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4212 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4213 View details
c.*9G>A g.153295809C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4214 View details
c.*55C>G g.153295763G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 4215 View details
c.*55C>G g.153295763G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 4216 View details
c.*55C>G g.153295763G>C 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Male 4217 View details
c.*92C>G g.153295726G>C 3'UTR variation 3'UTR variation 3'UTR Unknown Rett syndrome-classical Female 4300 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 4408 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 4409 View details
c.*14G>A g.153295804C>T 3'UTR variation 3'UTR variation 3'UTR Unknown Rett syndrome-not certain Female 5226 View details
c.*93G>A g.153295725C>T 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Unknown 5227 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-not certain Female 5228 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-not certain Female 5229 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 5230 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 5231 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 5232 View details
c.*14G>A g.153295804C>T 3'UTR variation 3'UTR variation 3'UTR Unknown Not Rett synd. Female 6666 View details
c.*14G>A g.153295804C>T 3'UTR variation 3'UTR variation 3'UTR Unknown Rett syndrome-forme fruste Female 6665 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Rett syndrome-classical Female 6611 View details
c.*98dupA g.153295720dupT 3'UTR variation 3'UTR variation 3'UTR Polymorphism not causing disease Not Rett synd. Female 6347 View details
c.-15C>T g.153357682G>A 5'UTR variation 5'UTR variation 5'UTR Unknown Not Rett synd. Female 951 View details
c.-15C>T g.153357682G>A 5'UTR variation 5'UTR variation 5'UTR Unknown Rett syndrome-Classical Female 950 View details
MECP2_e1: c.-46_-45delGC 5'UTR variation 5'UTR variation 5'UTR Unknown Not Rett synd. Female 2551 View details
MECP2_e1: c.-27_-26delAG 5'UTR variation 5'UTR variation 5'UTR Unknown Not Rett synd. Female 2552 View details
MECP2_e1: c.-27_-26delinsTT 5'UTR variation 5'UTR variation 5'UTR Unknown Not Rett synd. Female 2553 View details
AY523575.1:g.1029dupC 5'UTR variation 5'UTR variation 5'UTR Polymorphism not causing disease Rett syndrome-classcial Female 2913 View details
AY523575.1:g.1029dupC 5'UTR variation 5'UTR variation 5'UTR Polymorphism not causing disease Rett syndrome-atypical Female 2914 View details
AY523575.1:g.1029dupC 5'UTR variation 5'UTR variation 5'UTR Polymorphism not causing disease Rett syndrome-atypical Female 2915 View details
AY523575.1:g.1029dupC 5'UTR variation 5'UTR variation 5'UTR Polymorphism not causing disease Not Rett synd. Female 3983 View details
AY523575.1:g.1029dupC 5'UTR variation 5'UTR variation 5'UTR Polymorphism not causing disease Not Rett synd. Male 3984 View details
AY523575.1:g.1029dupC 5'UTR variation 5'UTR variation 5'UTR Polymorphism not causing disease Not Rett synd. Male 3985 View details
AY523575.1:g.1029dupC 5'UTR variation 5'UTR variation 5'UTR Polymorphism not causing disease Not Rett synd. Male 3986 View details
CDKL5: c.119C>T CDKL5: p.A40V missense CDKL5 Mutation associated with disease Not Rett synd. Female 6582 View details
complex rearrangement complex rearrangement Not known Not known Unknown Rett syndrome-Classical Female 2070 View details
MECP2_e1: c.62+2_62+3delTG intronic variation intronic variation intronic Mutation associated with disease Rett syndrome-classical Female 3866 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Not certain Female 20 View details
c.378-2A>G g.153296903T>C intronic variation intronic variation intronic Mutation associated with disease Rett syndrome-Not certain Female 103 View details
c.378-2A>G g.153296903T>C intronic variation Intronic variation Intronic Mutation associated with disease Rett syndrome-Not certain Female 124 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Not certain Female 207 View details
c.377+11G>C g.153297647C>G intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Not certain Female 208 View details
c.378-61C>G g.153296962G>C intronic variation Intronic variation Intronic Unknown Not Rett synd. Female 212 View details
c.378-2A>C g.153296903T>G intronic variation Intronic variation Intronic Mutation associated with disease Rett syndrome-Not certain Unknown 253 View details
c.378-2A>G g.153296903T>C intronic variation Intronic variation Intronic Mutation associated with disease Rett syndrome-Not certain Female 284 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Atypical Female 470 View details
c.27-8C>G g.153298016G>C intronic variation Intronic variation Intronic Unknown Rett syndrome-Classical Female 479 View details
c.377+22C>G g.153297636G>C intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Male 1023 View details
c.378-2A>G g.153296903T>C intronic variation Intronic variation Intronic Mutation associated with disease Rett syndrome-Not certain Female 1108 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Female 1233 View details
c.377+2T>G g.153297656A>C intronic variation Intronic variation Intronic Unknown Rett syndrome-Not certain Unknown 1356 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Not certain Unknown 1372 View details
c.377+6_377+9del g.153297649_153297652del intronic variation Intronic variation Intronic Unknown Not Rett synd. Female 1382 View details
c.377+22C>G g.153297636G>C intronic variation Intronic variation Intronic Polymorphism not causing disease Not Known Unknown 1383 View details
c.377+22C>G g.153297636G>C intronic variation Intronic variation Intronic Polymorphism not causing disease Not Known Unknown 1384 View details
c.378-241C>T g.153297142G>A intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Classical Female 1433 View details
c.377+22C>G g.153297636G>C intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Male 1562 View details
c.377+95G>A g.153297563C>T intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Male 1563 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Male 1575 View details
c.377+22C>G g.153297636G>C intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Male 1583 View details
c.377+22C>G g.153297636G>C intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Female 1584 View details
c.377+22C>G g.153297636G>C intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Female 1585 View details
c.377+95G>A g.153297563C>T intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Female 1586 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Not certain Female 1596 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Unknown 1597 View details
c.26+2T>A g.153357640A>T intronic variation Intronic variation Intronic Mutation associated with disease Rett syndrome-Not certain Female 1629 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Not certain Female 1638 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Not certain Female 1646 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Not certain Female 1647 View details
c.378-2A>C g.153296903T>G intronic variation Intronic variation Intronic Mutation associated with disease Not Known Female 1677 View details
c.377+22C>G g.153297636G>C intronic variation Intronic variation Intronic Polymorphism not causing disease Not Known Female 1705 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Male 1817 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Male 1818 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Not certain Female 1825 View details
c.377+22C>G g.153297636G>C intronic variation Intronic variation Intronic Polymorphism not causing disease Rett syndrome-Not certain Female 1829 View details
c.27-2A>G g.153298010T>C intronic variation Intronic variation Intronic Mutation associated with disease Rett syndrome-Not certain Female 1859 View details
c.377+22C>G g.153297636G>C intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Male 1975 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Male 1976 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Male 1977 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Not Known Female 2024 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Not Known Female 2027 View details
c.[377+22C>G; 378-74C>T] g.[153297636G>C;153296975G>A] intronic variation Intronic variation Intronic Polymorphism not causing disease Not Known Female 2029 View details
c.[377+22C>G(;)378-74C>T] g.[153297636G>C;153296975G>A] intronic variation Intronic variation Intronic Polymorphism not causing disease Not Known Female 2045 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Not Known Female 2051 View details
c.378-74C>T g.153296975G>A intronic variation Intronic variation Intronic Polymorphism not causing disease Not Known Female 2056 View details
c.378-74C>T g.153296975G>A intronic variation Intronic variation Intronic Polymorphism not causing disease Not Known Female 2057 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Not Known Female 2063 View details
c.27-9A>G g.153298017T>C intronic variation Intronic variation Intronic Unknown Rett syndrome-Classical Female 2101 View details
c.378-3C>G g.153296904G>C intronic variation Intronic variation Intronic Mutation associated with disease Rett syndrome-Classical Female 2102 View details
c.377+22C>G g.153297636G>C intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Female 2384 View details
c.377+22C>G g.153297636G>C intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Male 2385 View details
c.377+22C>G g.153297636G>C intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Male 2386 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Male 2387 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Female 2517 View details
c.378-17delT g.153296918delA intronic variation Intronic variation Intronic Polymorphism not causing disease Not Rett synd. Female 2518 View details
c.377+22C>G g.153297636G>C intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-Classical Female 2630 View details
c.377+22C>G g.153297636G>C intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-Classical Female 2631 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-Classical Female 2642 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 2649 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 2650 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 2651 View details
c.27-55G>A g.153298063C>T intronic variation intronic variation intronic Unknown Not Rett synd. Unknown 2661 View details
c.377+18C>G g.153297640G>C intronic variation intronic variation intronic Unknown Not Rett synd. Unknown 2662 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 2663 View details
c.377+24C>A g.153297634G>T intronic variation intronic variation intronic Unknown Not Rett synd. Male 2745 View details
MECP2_e1: c.62+2_62+3delTG intronic variation intronic variation intronic Mutation associated with disease Rett syndrome-classical Female 2757 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 2764 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 2765 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 2766 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Female 2780 View details
MECP2_e1: c.62+2_62+3delTG intronic variation intronic variation intronic Mutation associated with disease Rett syndrome-classical Female 2800 View details
c.27-2A>G g.153298010T>C intronic variation intronic variation N-term Mutation associated with disease Rett syndrome-atypical Female 2974 View details
c.378-2A>T g.153296903T>A intronic variation intronic variation intronic Mutation associated with disease Rett syndrome-not certain Female 3594 View details
MECP2_e1: c.62+1G>A intronic variation intronic variation intronic Unknown Rett syndrome-classical Female 3762 View details
c.377+1G>T g.153297657C>A intronic variation intronic variation intronic Mutation associated with disease Rett syndrome-classical Female 3763 View details
c.378-3C>G g.153296904G>C intronic variation intronic variation intronic Mutation associated with disease Rett syndrome-classical Female 3764 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-classical Female 3799 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 3918 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 3921 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 3922 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 3923 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 3924 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 3925 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Female 3926 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Female 3927 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Female 3928 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 3931 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Female 3932 View details
c.377+24C>A g.153297634G>T intronic variation intronic variation intronic Unknown Not Rett synd. Female 3935 View details
c.377+24C>A g.153297634G>T intronic variation intronic variation intronic Unknown Not Rett synd. Female 3936 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 3976 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 3990 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 3991 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 3992 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 3993 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 3994 View details
c.377+266T>C g.153297392A>G intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Female 4199 View details
c.[378-74C>T];[378-74C>T] intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-Classical Female 4337 View details
c.377+1G>A g.153297657C>T intronic variation intronic variation intronic Mutation associated with disease Rett syndrome-Classical Female 4348 View details
c.378-109A>G g.153297010T>C intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-Atypical Female 4349 View details
c.378-109A>G g.153297010T>C intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-Atypical Female 4350 View details
c.378-14G>A g.153296915C>T intronic variation intronic variation intronic Unknown Rett syndrome-Classical Female 4351 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Female 4352 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Female 4353 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-Classical Female 4354 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-Classical Female 4355 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-Classical Female 4356 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-Classical Female 4357 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-Classical Female 4358 View details
c.377+22C>G g.153297636G>C intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Female 4388 View details
c.378-109A>G g.153297010T>C intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Female 4390 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5082 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5083 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5084 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5085 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5086 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5087 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5088 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5089 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5090 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5091 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5092 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5093 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5094 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5095 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5096 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5097 View details
c.378-74C>T g.153296975G>A intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Male 5098 View details
c.377+22C>G g.153297636G>C intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-not certain Female 5141 View details
c.377+22C>G g.153297636G>C intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5142 View details
c.377+28A>G g.153297630T>C intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5143 View details
c.377+30G>A g.153297628C>T intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5144 View details
c.378-70C>G g.153296971G>C intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5145 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-not certain Female 5146 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-not certain Female 5147 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-not certain Female 5148 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-not certain Female 5149 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-not certain Female 5150 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-not certain Female 5151 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-not certain Female 5152 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-not certain Female 5153 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Rett syndrome-not certain Female 5154 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5155 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5156 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5157 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5158 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5159 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5160 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5161 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5162 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5163 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5164 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5165 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5166 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5167 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5168 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5169 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5170 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5171 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5172 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5173 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5174 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5175 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5176 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5177 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5178 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5179 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5180 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5181 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5182 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5183 View details
c.378-17delT g.153296918delA intronic variation intronic variation intronic Polymorphism not causing disease Not Rett synd. Unknown 5184 View details
MECP2_e1:c.62+2_63+3delTG Intronic variation Frameshift deletion N-term Mutation associated with disease Rett syndrome-male variant Male 5327 View details
c.378-2A>C g.153296903T>G intronic variation intronic variation intronic Mutation associated with disease Rett syndrome-classical Female 6603 View details
c.27-8C>G g.153298016G>C intronic variation intronic variation intronic Unknown Rett syndrome-classical Female 6353 View details
c.27-2A>G g.153298010T>C intronic variation intronic variation intronic Mutation associated with disease Rett syndrome-classical Female 6352 View details
c.27-2A>G g.153298010T>C intronic variation intronic variation intronic Mutation associated with disease Rett syndrome-classical Female 6351 View details
c.378-3C>G g.153296904G>C intronic variation intronic variation intronic Mutation associated with disease Rett syndrome-classical Female 6350 View details
c.[378-61C>G; *93G>A] g.[153296962G>C;153295725C>T] intronic variation and 3'UTR variation Intronic variation, 3'UTR variation Intronic, 3'UTR Unknown Not Rett synd. Male 1979 View details
MECP2_e1: c.5C>T MeCP2_e1: p.A2V missense N-term Unknown Rett syndrome-classical Female 3864 View details
MECP2_e1: c.5C>T MeCP2_e1: p.A2V missense N-term Unknown Rett syndrome-not certain Female 3867 View details
MECP2_e1: c.5C>T MeCP2_e1: p.A2V missense exon 1 Mutation associated with disease Rett syndrome-classical Female 6623 View details
MECP2_e1: c.5C>T MeCP2_e1: p.A2V missense exon 1 Mutation associated with disease Not Rett synd. Female 6622 View details
MECP2_e1: c.15_23del9 MeCP2_e1: p.A6_A8del in-frame insertion or deletion exon 1 Polymorphism not causing disease Not Rett synd. Female 6627 View details
MECP2_e1: c.15_23del9 MeCP2_e1: p.A6_A8del in-frame insertion or deletion exon 1 Polymorphism not causing disease Rett syndrome-classical Female 6626 View details
MECP2_e1: c.15_23dup9 MeCP2_e1: p.A6_A8dup in-frame insertion or deletion N-term Unknown Not Rett synd. Female 2554 View details
MECP2_e1: c.15_23dup9 MeCP2_e1: p.A6_A8dup in-frame insertion or deletion N-term Unknown Not Rett synd. Female 2555 View details
MECP2_e1: c.18_23del6 MeCP2_e1: p.A7_A8del in-frame insertion or deletion N-term Unknown Not Rett synd. Female 2556 View details
MECP2_e1: c.18_23dup MeCP2_e1: p.A7_A8dup In-frame insertion or deletion N-term Polymorphism not causing disease Rett syndrome-Atypical Female 2162 View details
MECP2_e1: c.18_23dup MeCP2_e1: p.A7_A8dup in-frame insertion or deletion N-term Polymorphism not causing disease Rett syndrome-atypical Female 2758 View details
MECP2_e1: c.18_23dup MeCP2_e1: p.A7_A8dup in-frame insertion or deletion N-term Polymorphism not causing disease Rett syndrome-classical Female 2912 View details
MECP2_e1: c.18_23dup MeCP2_e1: p.A7_A8dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd. Female 3987 View details
MECP2_e1: c.18_23dup MeCP2_e1: p.A7_A8dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Known Female 5113 View details
MECP2_e1: c.18_23dup MeCP2_e1: p.A7_A8dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd. Male 5114 View details
MECP2_e1: c.21_23dup3 MeCP2_e1: p.A8dup In-frame insertion or deletion N-term Unknown Not Known Female 2163 View details
MECP2_e1: c.49G>A MeCP2_e1: p.E17K missense N-term Unknown Not Rett synd. Female 2563 View details
MECP2_e1: c.48_55del8 MeCP2_e1: p.E18Tfs*21 frameshift insertion or deletion N-term Mutation associated with disease Not Rett synd. Female 5122 View details
MECP2_e1: c.42_47dupAGGAGG MeCP2_e1: p.G15_G16dup in-frame insertion or deletion N-term Unknown Rett syndrome-not certain Female 3595 View details
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup In-frame insertion or deletion N-term Polymorphism not causing disease Not Known Female 2004 View details
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup In-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd. Female 2005 View details
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup In-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd. Male 2006 View details
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd. Female 2557 View details
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd. Female 2558 View details
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd. Female 2559 View details
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd. Female 2560 View details
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd. Female 2561 View details
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd. Female 2562 View details
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd. Female 3915 View details
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd. Female 3916 View details
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd. Female 3917 View details
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd. Female 4822 View details
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Not Rett synd. Female 6345 View details
MECP2_e1: c.45_47dupAGG MeCP2_e1: p.G16dup in-frame insertion or deletion N-term Polymorphism not causing disease Rett syndrome-classical Female 6344 View details
MECP2_e1: c.47_57del11 MeCP2_e1: p.G16Efs*22 frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-atypical Female 2801 View details
MECP2_e1: c.47_57del11 MeCP2_e1: p.G16Efs*22 frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 2803 View details
MECP2_e1: c.47_57del11 MeCP2_e1: p.G16Efs*22 frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-atypical Female 2916 View details
MECP2_e1: c.47_57del11 MeCP2_e1: p.G16Efs*22 frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-not certain Female 2928 View details
MECP2_e1: c.47_57del11 MeCP2_e1: p.G16Efs*22 frameshift insertion or deletion N-term Mutation associated with disease Not Known Female 4445 View details
MECP2_e1: c.47_57del11 MeCP2_e1: p.G16Efs*22 frameshift insertion or deletion N-term Mutation associated with disease Not Known Male 4446 View details
MECP2_e1: c.47_57del11 MeCP2_e1: p.G16Efs*22 frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 5121 View details
MECP2_e1: c.47_57del11 MeCP2_e1: p.G16Efs*22 frameshift insertion or deletion exon 1 Mutation associated with disease Not Rett synd. Female 6628 View details
MECP2_e1: c.48_55dup MeCP2_e1: p.G19Afs*28 frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 2756 View details
MECP2_e1: c.48C>T (r.48_63del) MeCP2_e1: p.Glu17Lysfs*22 splicing N-term Mutation associated with disease Rett syndrome-classical Female 5233 View details
MECP2_e1: c.1A>T MeCP2_e1: p.M1? missense N-term Unknown Rett syndrome-classical Female 3865 View details
MECP2_e1: c.-7-?_62+?del MeCP2_e1: p.M1? frameshift insertion or deletion N-term Unknown Rett syndrome-Not certain Female 1916 View details
MECP2_e1: c.-7-?_62+?del MeCP2_e1: p.M1? frameshift insertion or deletion N-term Unknown Rett syndrome-Atypical Female 2074 View details
MECP2_e1: c.-7-?_62+?del MeCP2_e1: p.M1? large deletion N-term Mutation associated with disease Rett syndrome-classical Female 2759 View details
MECP2_e1: c.-7-?_62+?del MeCP2_e1: p.M1? frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-not certain Female 2929 View details
MECP2_e1: c.-7-?_62+?del MeCP2_e1: p.M1? exonic deletions N-term Mutation associated with disease Rett syndrome-atypical Female 3768 View details
MECP2_e1: c.1A>G MeCP2_e1: p.M1? missense N-term Unknown Rett syndrome-not certain Female 3868 View details
MECP2_e1: c.-7-?_62+?del MeCP2_e1: p.M1? exonic deletions N-term Mutation associated with disease Rett syndrome-atypical Female 5136 View details
MECP2_e1: c.1A>T MeCP2_e1: p.M1? missense exon 1 Mutation associated with disease Rett syndrome-classical Female 6625 View details
MECP2_e1: c.2T>C MeCP2_e1: p.M1? missense N-term Mutation associated with disease Rett syndrome-classical Female 6343 View details
MECP2_e1: c.47_57dup11 MeCP2_e1: p.R20Afs*28 frameshift insertion or deletion exon 1 Mutation associated with disease Rett syndrome-classical Female 6624 View details
MECP2_e1: c.59_60delGA MeCP2_e1: p.R20Tfs*40 frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 2781 View details
MECP2_e1: c.30delCinsGA MeCP2_e1: p.S10fs frameshift combined insertion and deletion N-term Mutation associated with disease Rett syndrome-Classical Female 2497 View details
MECP2_e1: c.23_27dupCGCCG MeCP2_e1: p.S10Rfs*37 frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 2802 View details
c.224C>T g.153297811G>A p. Pro75Leu missense N-term Unknown Not Known Female 4425 View details
c.(378_1461)_(378_1461)del p.(Asn126+Ser486)fs Frameshift insertion or deletion Not known Mutation associated with disease Rett syndrome-Classical Female 2083 View details
c.(378_1461)_(378_1461)del p.(Asn126+Ser486)fs Frameshift insertion or deletion Not known Mutation associated with disease Rett syndrome-Classical Female 2084 View details
c.(378_1461)_(378_1461)del p.(Asn126+Ser486)fs Frameshift insertion or deletion Not known Mutation associated with disease Rett syndrome-Atypical Female 2085 View details
c.(378_1461)_(378_1461)del p.(Asn126+Ser486)fs Frameshift insertion or deletion Not known Mutation associated with disease Rett syndrome-Classical Female 2086 View details
c.(378_1461)_(378_1461)del p.(Asn126+Ser486)fs Frameshift insertion or deletion Not known Mutation associated with disease Rett syndrome-Not certain Female 2087 View details
c.(378_1461)_(378_1461)del p.(Asn126+Ser486)fs Frameshift insertion or deletion Not known Mutation associated with disease Rett syndrome-Atypical Female 2499 View details
c.1461A>C g.153295818T>G p.*487Cysext*27 Nonstop C-term Unknown Rett syndrome-Classical Female 942 View details
c.1461A>G g.153295818T>C p.*487Trpext*27 Nonstop C-term Unknown Not Known Female 1700 View details
c.1336-?_*?del p.? frameshift insertion or deletion N-term/MBD/interdomain/TRD/NLS/C-term Mutation associated with disease Rett syndrome-classical Female 2790 View details
c.1017-?_1397+?del g.153295882_153296262del p.? exonic deletions C-term Mutation associated with disease Rett syndrome-atypical Female 3780 View details
c.1169-?_1170+?del g.153296109_153296110del p.? exonic deletions C-term Mutation associated with disease Rett syndrome-classical Female 3782 View details
c.1169-?_1397+?del g.153295882_153296110del p.? exonic deletions C-term Mutation associated with disease Rett syndrome-classical Female 3783 View details
c.1396-?_1397+?del g.153295882_153295883del p.? exonic deletions C-term Mutation associated with disease Rett syndrome-classical Female 3784 View details
c.1396-?_1397+?del g.153295882_153295883del p.? exonic deletions C-term Mutation associated with disease Rett syndrome-classical Female 3785 View details
c.631-?_657+?del g.153296622_153296648del p.? exonic deletion MBD Mutation associated with disease Rett syndrome-classical Female 3786 View details
c.631-?_657+?dup g.153296622_153296648dup p.? exonic duplication MBD Unknown Rett syndrome-preserved speech Female 3787 View details
c.248-?_320+?del (exon 3 deletion) p.? in-frame insertion or deletion MBD Mutation associated with disease Rett syndrome-classical Female 4806 View details
c.184-?_1065+?del g.153296214_153297851del p.? exonic deletions MBD Mutation associated with disease Rett syndrome-classical Female 5137 View details
c.1044-?_1442+?del g.153295837_153296235del p.? exonic deletions C-term Mutation associated with disease Rett syndrome-atypical Female 5138 View details
c.1044-?_1442+?del g.153295837_153296235del p.? exonic deletions C-term Mutation associated with disease Rett syndrome-atypical Female 5139 View details
c.[184-?_1065+?del; *5338_*5361+?del] g.[153296214_153297851del;153290457_153290480del] p.? exonic deletions C-term Mutation associated with disease Rett syndrome-classical Female 5140 View details
c.393C>G g.153296886G>C p.Ala131Ala Silent MBD Silent polymorphism Rett syndrome-Not certain Female 1639 View details
c.393C>G g.153296886G>C p.Ala131Ala Silent MBD Silent polymorphism Not Rett synd. Male 2496 View details
c.393C>G g.153296886G>C p.Ala131Ala silent MBD Silent polymorphism Not Rett synd. Unknown 2664 View details
c.393C>G g.153296886G>C p.Ala131Ala silent MBD Silent polymorphism Not Rett synd. Unknown 3995 View details
c.392C>A g.153296887G>T p.Ala131Asp missense MBD Unknown Rett syndrome-classical Female 3623 View details
c.392C>A g.153296887G>T p.Ala131Asp missense MBD Mutation associated with disease Rett syndrome-classical Female 6760 View details
c.390dupA g.153296889dupT p.Ala131fs frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-classical Female 6636 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Female 218 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Female 219 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Male 220 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Male 221 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Male 222 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Male 223 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Male 1014 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Male 1015 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Female 1265 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Male 1266 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Female 1267 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Male 1268 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Male 1269 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Male 1270 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Female 1271 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Male 1272 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Male 1966 View details
c.419C>T g.153296860G>A p.Ala140Val Missense MBD Unknown Not Rett synd. Female 1967 View details
c.419C>T g.153296860G>A p.Ala140Val missense MBD Unknown Not Rett synd. Female 5302 View details
c.419C>T g.153296860G>A p.Ala140Val missense MBD Unknown Not Rett synd. Female 4093 View details
c.419C>T g.153296860G>A p.Ala140Val missense MBD Unknown Not Rett synd. Male 4398 View details
c.419C>T g.153296860G>A p.Ala140Val missense MBD Unknown Not Rett synd. Male 4399 View details
c.419C>T g.153296860G>A p.Ala140Val missense MBD Unknown Not Rett synd. Male 4400 View details
c.419C>T g.153296860G>A p.Ala140Val missense MBD Unknown Not Rett synd. Male 4401 View details
c.419C>T g.153296860G>A p.Ala140Val missense MBD Unknown Not Rett synd. Female 4402 View details
c.419C>T g.153296860G>A p.Ala140Val missense MBD Unknown Not Rett synd. Female 4403 View details
c.419C>T g.153296860G>A p.Ala140Val missense MBD Unknown Not Rett synd. Female 4404 View details
c.419C>T g.153296860G>A p.Ala140Val missense MBD Unknown Not Rett synd. Female 4405 View details
c.542C>T g.153296737G>A p.Ala181Val Missense Inter-domain region Unknown Not Rett synd. Male 1564 View details
c.542C>T g.153296737G>A p.Ala181Val Missense Inter-domain region Unknown Not Rett synd. Female 1565 View details
c.603G>A g.153296676C>T p.Ala201Ala silent inter-domain region Silent polymorphism Not Rett synd. Female 4391 View details
c.601dupG g.153296678dupC p.Ala201fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 135 View details
c.602C>T g.153296677G>A p.Ala201Val Missense Inter-domain region Polymorphism not causing disease Rett syndrome-Not certain Unknown 141 View details
c.602C>T g.153296677G>A p.Ala201Val Missense Inter-domain region Polymorphism not causing disease Not Rett synd. Female 151 View details
c.602C>T g.153296677G>A p.Ala201Val Missense Inter-domain region Polymorphism not causing disease Not Known Female 1385 View details
c.602C>T g.153296677G>A p.Ala201Val Missense Inter-domain region Polymorphism not causing disease Rett syndrome-Classical Female 1430 View details
c.602C>T g.153296677G>A p.Ala201Val Missense Inter-domain region Polymorphism not causing disease Rett syndrome-Not certain Female 1599 View details
c.602C>T g.153296677G>A p.Ala201Val Missense Inter-domain region Polymorphism not causing disease Not Rett synd. Female 1600 View details
c.602C>T g.153296677G>A p.Ala201Val Missense Inter-domain region Polymorphism not causing disease Not Rett synd. Male 1973 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 2665 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 2748 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 2749 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 2750 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 2767 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Rett syndrome-classical Female 2813 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Rett syndrome-not certain Female 3081 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Rett syndrome-not certain Female 3516 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Rett syndrome-classical Female 3804 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 3808 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 3929 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Rett syndrome-NK Female 3952 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 3953 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd. Unknown 3954 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd. Unknown 3955 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Rett syndrome-NK Female 3956 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Rett syndrome-NK Female 3957 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Rett syndrome-not certain Female 4751 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Rett syndrome-not certain Female 5069 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 5077 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd. Female 5078 View details
c.602C>T g.153296677G>A p.Ala201Val missense inter-domain region Polymorphism not causing disease Not Rett synd. Male 5079 View details
c.605G>A g.153296674C>T p.Ala202His Missense Inter-domain Unknown Rett syndrome-atypical Female 5330 View details
c.715delG g.153296564delC p.Ala239fs Frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 1787 View details
c.777C>T g.153296502G>A p.Ala259Ala Silent TRD-NLS Silent polymorphism Rett syndrome-Not certain Unknown 1374 View details
c.777C>T g.153296502G>A p.Ala259Ala Silent TRD-NLS Silent polymorphism Rett syndrome-Not certain Unknown 1375 View details
c.777C>T g.153296502G>A p.Ala259Ala Silent TRD-NLS Silent polymorphism Rett syndrome-Classical Female 1431 View details
c.777C>T g.153296502G>A p.Ala259Ala Silent TRD-NLS Silent polymorphism Not Rett synd. Female 1846 View details
c.777C>T g.153296502G>A p.Ala259Ala Silent TRD-NLS Silent polymorphism Rett syndrome-Not certain Female 1894 View details
c.777C>T g.153296502G>A p.Ala259Ala silent TRD-NLS Silent polymorphism Not Rett synd. Female 4387 View details
c.830delC g.153296449delG p.Ala277fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 2882 View details
c.830_831ins23 p.Ala277fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3277 View details
c.829delG g.153296450delC p.Ala277fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 6631 View details
c.834C>T g.153296445G>A p.Ala278Ala Silent TRD Silent polymorphism Rett syndrome-Not certain Female 19 View details
c.834C>T g.153296445G>A p.Ala278Ala Silent TRD Silent polymorphism Rett syndrome-Not certain Female 47 View details
c.834C>T g.153296445G>A p.Ala278Ala Silent TRD Silent polymorphism Rett syndrome-Not certain Female 1593 View details
c.834C>T g.153296445G>A p.Ala278Ala silent TRD Silent polymorphism Not Rett synd. Male 3026 View details
c.834C>T g.153296445G>A p.Ala278Ala silent TRD Silent polymorphism Not Rett synd. Unknown 3920 View details
c.834C>T g.153296445G>A p.Ala278Ala silent TRD Silent polymorphism Not Rett synd. Unknown 3996 View details
c.832G>A g.153296447C>T p.Ala278Thr missense TRD Polymorphism not causing disease Not Rett synd. Female 5236 View details
c.834_939del106 g.153296340_153296445del106 p.Ala279fs frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 4497 View details
c.836C>T g.153296443G>A p.Ala279Val missense TRD Unknown Rett syndrome-classical Female 2990 View details
c.836C>T g.153296443G>A p.Ala279Val missense TRD Unknown Rett syndrome-classical Female 2991 View details
c.836C>T g.153296443G>A p.Ala279Val missense TRD Unknown Rett syndrome-classical Female 2992 View details
c.840C>T g.153296439G>A p.Ala280Ala Silent TRD Silent polymorphism Not Rett synd. Female 1234 View details
c.840C>T g.153296439G>A p.Ala280Ala Silent TRD Silent polymorphism Rett syndrome-Not certain Female 1649 View details
c.840C>T g.153296439G>A p.Ala280Ala silent TRD Silent polymorphism Not Rett synd. Unknown 4633 View details
c.840C>T g.153296439G>A p.Ala280Ala silent TRD Silent polymorphism Not Rett synd. Unknown 4634 View details
c.843C>T g.153296436G>A p.Ala281Ala Silent TRD Silent polymorphism Rett syndrome-Not certain Female 1127 View details
c.843C>T g.153296436G>A p.Ala281Ala Silent TRD Silent polymorphism Rett syndrome-Not certain Female 1900 View details
c.843C>T g.153296436G>A p.Ala281Ala Silent TRD Silent polymorphism Not Known Female 2043 View details
c.843C>T g.153296436G>A p.Ala281Ala silent TRD Silent polymorphism Not Rett synd. Unknown 4619 View details
c.843C>T g.153296436G>A p.Ala281Ala silent TRD Silent polymorphism Not Rett synd. Unknown 5196 View details
c.849C>G g.153296430G>C p.Ala283Ala Silent TRD Silent polymorphism Not Rett synd. Male 1019 View details
c.857_858dupAA g.153296421_153296422dupTT p.Ala287Lysfs*3 frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 6748 View details
c.855_859del5ins12 p.Ala287Lysfs*46 combined frameshift insertion and deletion C-term Mutation associated with disease Rett syndrome-not certain Female 5253 View details
c.859G>C g.153296420C>G p.Ala287Pro Missense TRD Unknown Rett syndrome-Not certain Female 1140 View details
c.1072G>A g.153296207C>T p.Ala358Thr missense C-term Polymorphism not causing disease Rett syndrome-not certain Female 3566 View details
c.1072G>A g.153296207C>T p.Ala358Thr missense C-term Polymorphism not causing disease Not Rett synd. Male 3810 View details
c.1072G>A g.153296207C>T p.Ala358Thr missense C-term Polymorphism not causing disease Not Rett synd. Female 3989 View details
c.1072G>A g.153296207C>T p.Ala358Thr missense C-term Polymorphism not causing disease Not Rett synd. Female 4892 View details
c.1072G>A g.153296207C>T p.Ala358Thr missense C-term Polymorphism not causing disease Not Rett synd. Male 4893 View details
c.1132_1202del71 g.153296077_153296147del71 p.Ala378fs Frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-Not certain Unknown 1369 View details
c.1132_1202del71 g.153296077_153296147del71 p.Ala378fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 3761 View details
c.1133C>G g.153296146G>C p.Ala378Gly missense C-term Unknown Rett syndrome-classical Female 4099 View details
c.1132G>T g.153296147C>A p.Ala378Ser missense C-term Unknown Not Rett synd. Female 6581 View details
c.1132G>T g.153296147C>A p.Ala378Ser missense C-term Unknown Not Rett synd. Male 6580 View details
c.1133C>T g.153296146G>A p.Ala378Val missense C-term Polymorphism not causing disease Rett syndrome-not certain Female 3167 View details
c.1133C>T g.153296146G>A p.Ala378Val missense C-term Polymorphism not causing disease Rett syndrome-NK Female 3945 View details
c.1133C>T g.153296146G>A p.Ala378Val missense C-term Polymorphism not causing disease Not Rett synd. Male 3946 View details
c.1133C>T g.153296146G>A p.Ala378Val missense C-term Polymorphism not causing disease Not Rett synd. Unknown 3947 View details
c.1133C>T g.153296146G>A p.Ala378Val missense C-term Polymorphism not causing disease Not Rett synd. Unknown 3948 View details
c.[1317_*623delins22; *796_*822del] p.Ala439fs frameshift combined insertion and deletion C-term Mutation associated with disease Rett syndrome-not certain Female 3323 View details
c.1315G>A g.153295964C>T p.Ala439Thr Missense C-term Unknown Not Rett synd. Male 1574 View details
c.1315G>A g.153295964C>T p.Ala439Thr Missense C-term Unknown Not Rett synd. Female 1587 View details
c.1315G>A g.153295964C>T p.Ala439Thr Missense C-term Unknown Not Known Female 2145 View details
c.1315G>A g.153295964C>T p.Ala439Thr Missense C-term Unknown Not Known Female 2146 View details
c.1315G>A g.153295964C>T p.Ala439Thr Missense C-term Unknown Not Rett synd. Male 2165 View details
c.1315G>A g.153295964C>T p.Ala439Thr Missense C-term Unknown Not Rett synd. Male 2166 View details
c.1315G>A g.153295964C>T p.Ala439Thr missense C-term Unknown Not Rett synd. Female 2777 View details
c.1320dupT g.153295959dupA p.Ala441fs frameshift insertion or deletion C-term Mutation associated with disease Rett syndrome-atypical Female 3752 View details
c.1327G>A g.153295952C>T p.Ala443Thr missense C-term Unknown Not Rett synd. Male 4897 View details
c.1327G>A g.153295952C>T p.Ala443Thr missense C-term Unknown Not Rett synd. Female 4898 View details
c.1330_1342del13 g.153295937_153295949del13 p.Ala444fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1711 View details
c.1330G>A g.153295949C>T p.Ala444Thr Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1136 View details
c.1330G>A g.153295949C>T p.Ala444Thr Missense C-term Polymorphism not causing disease Rett syndrome-Not certain Female 1137 View details
c.1330G>A g.153295949C>T p.Ala444Thr Missense C-term Polymorphism not causing disease Not Rett synd. Male 1548 View details
c.1330G>A g.153295949C>T p.Ala444Thr Missense C-term Polymorphism not causing disease Not Rett synd. Male 1549 View details
c.1330G>A g.153295949C>T p.Ala444Thr Missense C-term Polymorphism not causing disease Rett syndrome-Atypical Female 2164 View details
c.1330G>A g.153295949C>T p.Ala444Thr missense C-term Polymorphism not causing disease Not Rett synd. Male 2671 View details
c.1330G>A g.153295949C>T p.Ala444Thr missense C-term Polymorphism not causing disease Not Rett synd. Female 2778 View details
c.1330G>A g.153295949C>T p.Ala444Thr missense C-term Polymorphism not causing disease Rett syndrome-not certain Female 4074 View details
c.1330G>A g.153295949C>T p.Ala444Thr missense C-term Polymorphism not causing disease Not Rett synd. Female 4075 View details
c.1338_1354del g.153295925_153295941del p.Ala447fs Frameshift insertion or deletion C-term Mutation associated with disease Not Known Female 1716 View details
c.1339G>A g.153295940C>T p.Ala447Thr missense C-term Polymorphism not causing disease Rett syndrome-not certain Female 3801 View details
c.1339G>A g.153295940C>T p.Ala447Thr missense C-term Polymorphism not causing disease Not Rett synd. Female 3802 View details
c.1339G>A g.153295940C>T p.Ala447Thr missense C-term Polymorphism not causing disease Not Rett synd. Female 4604 View details
c.1339G>A g.153295940C>T p.Ala447Thr missense C-term Polymorphism not causing disease Not Rett synd. Male 4605 View details
c.1339G>A g.153295940C>T p.Ala447Thr missense C-term Polymorphism not causing disease Not Rett synd. Unknown 5224 View details
c.1340C>T g.153295939G>A p.Ala447Val Missense C-term Unknown Rett syndrome-Not certain Female 1650 View details
c.215dupC g.153297820dupG p.Ala73fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-classical Female 2930 View details
c.215_216insT g.153297819_153297820insA p.Ala73fs frameshift insertion or deletion N-term Mutation associated with disease Rett syndrome-not certain Female 3257 View details
c.229_238del10 g.153297797_153297806del10 p.Ala77fs Frameshift insertion or deletion N-term Mutation associated with disease Not Known Female 1713 View details
c.229_238del10 g.153297797_153297806del10 p.Ala77fs frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-classical Female 6640 View details
c.315dupA g.153297720dupT p.Arg106fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-classical Female 1923 View details
c.317G>A g.153297718C>T p.Arg106Gln Missense MBD Mutation associated with disease Rett syndrome-Classical Female 372 View details
c.317G>A g.153297718C>T p.Arg106Gln Missense MBD Mutation associated with disease Rett syndrome-Classical Female 921 View details
c.317G>A g.153297718C>T p.Arg106Gln Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1025 View details
c.317G>A g.153297718C>T p.Arg106Gln Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1026 View details
c.317G>A g.153297718C>T p.Arg106Gln Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1262 View details
c.317G>A g.153297718C>T p.Arg106Gln Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1263 View details
c.317G>A g.153297718C>T p.Arg106Gln Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1882 View details
c.317G>A g.153297718C>T p.Arg106Gln Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1883 View details
c.317G>A g.153297718C>T p.Arg106Gln Missense MBD Mutation associated with disease Not Known Female 2033 View details
c.317G>A g.153297718C>T p.Arg106Gln Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2436 View details
c.317G>A g.153297718C>T p.Arg106Gln missense MBD Mutation associated with disease Rett syndrome-not certain Female 3084 View details
c.317G>A g.153297718C>T p.Arg106Gln missense MBD Mutation associated with disease Rett syndrome-not certain Female 3085 View details
c.317G>A g.153297718C>T p.Arg106Gln missense MBD Mutation associated with disease Rett syndrome-not certain Female 3086 View details
c.317G>A g.153297718C>T p.Arg106Gln missense MBD Mutation associated with disease Rett syndrome-not certain Female 3418 View details
c.317G>A g.153297718C>T p.Arg106Gln missense MBD Mutation associated with disease Rett syndrome-not certain Female 3525 View details
c.317G>A g.153297718C>T p.Arg106Gln missense MBD Mutation associated with disease Rett syndrome-classical Female 3631 View details
c.317G>A g.153297718C>T p.Arg106Gln missense MBD Mutation associated with disease Rett syndrome-classical Female 3632 View details
c.317G>A g.153297718C>T p.Arg106Gln missense MBD Mutation associated with disease Rett syndrome-not certain Female 4730 View details
c.317G>A g.153297718C>T p.Arg106Gln missense MBD Mutation associated with disease Rett syndrome-not certain Female 4731 View details
c.317G>A g.153297718C>T p.Arg106Gln missense MBD Mutation associated with disease Rett syndrome-classical Female 6759 View details
c.317G>A g.153297718C>T p.Arg106Gln missense MBD Mutation associated with disease Rett syndrome-classical Female 6577 View details
c.316C>G g.153297719G>C p.Arg106Gly Missense MBD Unknown Rett syndrome-Classical Female 2194 View details
c.316C>G g.153297719G>C p.Arg106Gly Missense MBD Unknown Not Rett synd. Female 2195 View details
c.316C>G g.153297719G>C p.Arg106Gly Missense MBD Unknown Rett syndrome-Atypical Female 2196 View details
c.316C>G g.153297719G>C p.Arg106Gly missense MBD Unknown Rett syndrome-not certain Female 3095 View details
c.316C>G g.153297719G>C p.Arg106Gly missense MBD Unknown Rett syndrome-not certain Female 3425 View details
c.317G>T g.153297718C>A p.Arg106Leu Missense MBD Unknown Rett syndrome-Classical Female 2484 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 6 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 10 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 49 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 50 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 51 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 52 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 53 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 54 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 55 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 104 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 154 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 191 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 224 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 225 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 226 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 227 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 262 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 289 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 290 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 368 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 370 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Not Known Female 424 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 456 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Unknown 879 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 864 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 863 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 846 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 845 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Unknown 844 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1027 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1028 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1029 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1145 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1223 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1242 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1273 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1274 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1275 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1276 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1277 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1278 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1376 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1437 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1482 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1612 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1625 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Not Known Female 1682 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Not Known Female 1699 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Not Known Female 1727 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Not Known Female 1752 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Not Known Female 1792 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Not Known Female 1801 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1878 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1879 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1880 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1881 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-classical Female 1924 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Not Known Female 2023 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Not Known Female 2067 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2197 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2198 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2199 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2200 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2201 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2202 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2203 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2204 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2205 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Forme fruste Female 2419 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2438 View details
c.316C>T g.153297719G>A p.Arg106Trp Missense MBD Mutation associated with disease Rett syndrome-Preserved speech Female 2470 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-Classical Female 2565 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-Classical Female 2566 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-Classical Female 2567 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-Classical Female 2568 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-Classical Female 2569 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-classical Female 3036 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-classical Female 3037 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3067 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3087 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3088 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3089 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3090 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3091 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3092 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3093 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3094 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-classical Female 3382 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-classical Female 3395 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3419 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3420 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3421 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3422 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3423 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3424 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3523 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 3524 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-classical Female 3628 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-classical Female 3629 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-classical Female 3630 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-classical Female 3803 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Not Known Female 4135 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Not Known Female 4136 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Not Known Female 4137 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Not Known Female 4138 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Not Known Female 4139 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-Classical Female 4227 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-Classical Female 4228 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-Atypical Female 4229 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 4315 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Not Known Female 4427 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Not Known Female 4428 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 4728 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 4729 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-classical Female 4808 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-classical Female 4828 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-classical Female 4829 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-classical Female 4830 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-classical Female 4831 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 4904 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-not certain Female 5054 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Not Rett synd. Female 6574 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-classical Female 6573 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-classical Female 6572 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-classical Female 6571 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-classical Female 6570 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-classical Female 6569 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-classical Female 6568 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-classical Female 6567 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-classical Female 6566 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-classical Female 6565 View details
c.316C>T g.153297719G>A p.Arg106Trp missense MBD Mutation associated with disease Rett syndrome-classical Female 6564 View details
c.331A>G g.153297704T>C p.Arg111Gly Missense MBD Unknown Rett syndrome-Not certain Unknown 1279 View details
c.343_1282del g.153295997_153297692del p.Arg115_Glu394del in-frame insertion or deletion MBD, inter-domain, TRD, TRD-NLS, C-term Mutation associated with disease Rett syndrome-not certain Female 4306 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 7 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 16 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 56 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 57 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Preserved speech Female 105 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Preserved speech Female 156 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 157 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 158 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 263 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 264 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 288 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 292 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 293 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 294 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 355 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 377 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 380 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 383 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 400 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 411 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 418 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 451 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Forme fruste Unknown 880 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Preserved speech Unknown 881 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 866 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Unknown 839 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1030 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Preserved speech Female 1175 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Preserved speech Female 1176 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1219 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1224 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1280 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1281 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1282 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1283 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1284 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Unknown 1285 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1395 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1438 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1439 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1440 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-atypical Unknown 1504 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-atypical Unknown 1505 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1610 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1624 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1628 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1644 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1675 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1704 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1708 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1712 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1719 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1725 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1743 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1767 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1770 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1806 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1813 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 1816 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Not certain Female 1869 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-classical Female 1961 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Male 1997 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Rett synd. Female 1998 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 1999 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 2013 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 2028 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Known Female 2038 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2208 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2209 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2210 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2211 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2212 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2213 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Rett synd. Female 2214 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2215 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2216 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2217 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2218 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Female 2219 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Atypical Male 2220 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2221 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2222 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2223 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2224 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Preserved speech Female 2389 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2399 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2411 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2430 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Preserved speech Female 2447 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2475 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Rett syndrome-Classical Female 2482 View details
c.397C>T g.153296882G>A p.Arg133Cys Missense MBD Mutation associated with disease Not Rett synd. Female 2491 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 2539 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-Classical Female 2571 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-Classical Female 2572 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-Classical Female 2573 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-Classical Female 2574 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-Classical Female 2575 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-Classical Female 2576 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 2805 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 2806 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 2856 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-forme fruste Female 2868 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-forme fruste Female 2869 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-forme fruste Female 2870 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 2892 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 2931 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 2932 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 2933 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-atypical Female 2954 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-atypical Female 2955 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 2995 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3097 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3098 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3099 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3100 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3101 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3102 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3103 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3104 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3105 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3106 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3107 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3108 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3109 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3110 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-forme fruste Female 3366 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3385 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-preserved speech Female 3393 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-preserved speech Female 3394 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3427 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3428 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3429 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3430 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3529 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3530 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3531 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3532 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3533 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3534 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3535 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-atypical Female 3634 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-atypical Female 3635 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-atypical Female 3636 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-atypical Female 3637 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-preserved speech Female 3638 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-preserved speech Female 3639 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-preserved speech Female 3640 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-preserved speech Female 3641 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-preserved speech Female 3642 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-preserved speech Female 3643 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-preserved speech Female 3644 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 3790 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 4062 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Not Known Female 4117 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Not Known Female 4118 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Not Known Female 4119 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Not Known Female 4120 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Not Known Female 4121 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-Classical Female 4248 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 4314 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-Classical Female 4359 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-Atypical Female 4360 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-Classical Female 4361 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Not Known Female 4429 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Not Known Female 4430 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Not Known Female 4431 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Not Known Female 4432 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Not Known Female 4433 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Not Known Female 4434 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Not Known Female 4435 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Not Known Female 4436 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 4732 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 4733 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 4734 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 4735 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-atypical Female 4809 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 4832 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 4833 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 4834 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 4835 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-preserved speech Female 4865 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 4917 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 5045 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-not certain Female 5046 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 5123 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Not Known Female 6729 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-preserved speech Female 6727 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 6728 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Not Rett synd. Female 6601 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Not Rett synd. Male 6600 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 6563 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 6562 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 6561 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 6560 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 6559 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 6558 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 6557 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 6556 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 6555 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 6554 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 6553 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 6552 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 6551 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 6550 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 6549 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 6548 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 6547 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 6546 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 6545 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 6544 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 6543 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 6542 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 6541 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 6540 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 6539 View details
c.397C>T g.153296882G>A p.Arg133Cys missense MBD Mutation associated with disease Rett syndrome-classical Female 6538 View details
c.397C>G g.153296882G>C p.Arg133Gly Missense MBD Unknown Not Known Female 1798 View details
c.397C>G g.153296882G>C p.Arg133Gly missense MBD Unknown Rett syndrome-not certain Female 3431 View details
c.398G>A g.153296881C>T p.Arg133His Missense MBD Unknown Rett syndrome-Not certain Female 29 View details
c.398G>A g.153296881C>T p.Arg133His Missense MBD Unknown Rett syndrome-Atypical Female 433 View details
c.398G>A g.153296881C>T p.Arg133His Missense MBD Unknown Rett syndrome-Classical Female 2226 View details
c.398G>A g.153296881C>T p.Arg133His missense MBD Unknown Rett syndrome-not certain Female 3111 View details
c.398G>A g.153296881C>T p.Arg133His missense MBD Unknown Rett syndrome-not certain Female 3432 View details
c.398G>A g.153296881C>T p.Arg133His missense MBD Unknown Rett syndrome-not certain Female 3536 View details
c.398G>A g.153296881C>T p.Arg133His missense MBD Unknown Rett syndrome-not certain Female 3537 View details
c.398G>A g.153296881C>T p.Arg133His missense MBD Unknown Rett syndrome-atypical Female 5112 View details
c.398G>T g.153296881C>A p.Arg133Leu Missense MBD Unknown Rett syndrome-Classical Female 329 View details
c.398G>C g.153296881C>G p.Arg133Pro missense MBD Mutation associated with disease Rett syndrome-classical Female 6576 View details
c.483delG g.153296796delC p.Arg162fs Frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-Not certain Female 1888 View details
c.480delT g.153296799delA p.Arg162fs frameshift insertion or deletion MBD Mutation associated with disease Rett syndrome-not certain Female 3260 View details
c.484dupA g.153296795dupT p.Arg162fs frameshift insertion or deletion inter-domain region Mutation associated with disease Rett syndrome-classical Female 4084 View details
c.499C>T g.153296780G>A p.Arg167Trp Missense Inter-domain region Unknown Not Rett synd. Male 1013 View details
c.499C>T g.153296780G>A p.Arg167Trp missense inter-domain region Unknown Not Known Female 4458 View details
c.499C>T g.153296780G>A p.Arg167Trp missense inter-domain region Unknown Not Rett synd. Female 4459 View details
c.499C>T g.153296780G>A p.Arg167Trp missense inter-domain region Unknown Not Known Female 4460 View details
c.499C>T g.153296780G>A p.Arg167Trp missense Inter-domain Unknown Not Rett synd. Male 6591 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 80 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 81 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 82 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 83 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 84 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 85 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Preserved speech Female 110 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 111 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 112 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 142 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 173 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 174 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 175 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 176 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 177 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 195 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 196 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 197 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 213 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 237 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 238 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 239 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 270 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 271 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 272 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 273 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 274 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 275 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 300 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 332 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 333 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 334 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 360 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 397 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 407 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 408 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 412 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 416 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 425 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 428 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 444 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 457 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 458 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 471 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 937 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 931 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 925 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 923 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Unknown 894 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Unknown 892 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Unknown 893 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Unknown 891 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 877 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 876 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 875 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1065 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1066 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1067 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1068 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1069 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1070 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1071 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1072 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1073 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1074 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1075 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1076 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1077 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1160 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1161 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1162 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1208 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1227 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1228 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 1307 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 1308 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 1309 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 1310 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 1311 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 1312 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 1313 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 1314 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 1315 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 1316 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 1317 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 1318 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Unknown 1319 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1377 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1405 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1406 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1407 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1445 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1446 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1447 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1448 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 1467 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Unknown 1485 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Unknown 1486 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Unknown 1487 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Unknown 1488 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Unknown 1489 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Unknown 1490 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1491 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1492 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Rett synd. Female 1493 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1601 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1604 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1642 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1656 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1660 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1664 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1667 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1676 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1683 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1691 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1692 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1696 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1697 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1710 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1714 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1720 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1761 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1796 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 1800 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1821 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1861 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1889 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1890 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-classical Female 1925 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-classical Female 1937 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-atypical Female 1949 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-atypical Female 1954 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-classical Female 1955 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-atypical Female 1960 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 2017 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 2022 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Not Known Female 2036 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2227 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 2228 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2229 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 2230 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2231 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 2232 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 2233 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2234 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2235 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2236 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 2237 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2238 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2239 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2240 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 2241 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2242 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 2243 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2244 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2245 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2247 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2248 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 2249 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2250 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 2251 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2252 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2253 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2254 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 2255 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2256 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2257 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2258 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2259 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2260 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2261 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2262 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Preserved speech Female 2404 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Congenital onset Female 2406 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2420 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Preserved speech Female 2422 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2427 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2441 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2454 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Congenital onset Female 2458 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2462 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2463 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2469 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Preserved speech Female 2474 View details
c.502C>T g.153296777G>A p.Arg168* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Congenital onset Female 2485 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 2541 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2593 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2594 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Classical Female 2595 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 2819 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 2895 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 2938 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 2939 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-atypical Female 2964 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 2978 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 2979 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 2980 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3003 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3004 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3013 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3040 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3051 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3052 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3053 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3054 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3171 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3172 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3173 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3174 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3175 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3176 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3177 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3178 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3179 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3180 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3181 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3182 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3183 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3184 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3185 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3186 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3187 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3188 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3189 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3190 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3191 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3192 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3193 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3194 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3195 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3196 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3197 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3354 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3367 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3368 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3369 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3406 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3407 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3463 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3464 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3465 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3466 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3467 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3468 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3469 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3470 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3471 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3472 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3473 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3474 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3475 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3476 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3477 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3567 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3568 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3569 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3570 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3571 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3572 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3573 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3574 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3575 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3576 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3577 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3578 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3688 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3689 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3690 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3691 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3692 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3693 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3694 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3695 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3696 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3697 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3698 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3699 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3700 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3701 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3702 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3703 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3704 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3791 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 3815 View details
c.[502C>T; 1136_1142del7] g.[153296777G>A;153296137_153296143del7] p.Arg168* nonsense, frameshift insertion or deletion MBD, C-term Mutation associated with disease Rett syndrome-not certain Female 3853 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 4067 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Not Known Female 4140 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Not Known Female 4141 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Not Known Female 4142 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Not Known Female 4143 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Not Known Female 4144 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Classical Female 4251 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Classical Female 4252 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Classical Female 4253 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Classical Female 4254 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Classical Female 4255 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Classical Female 4256 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Classical Female 4257 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Classical Female 4258 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Classical Female 4259 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 4260 View details
c.502C>T g.153296777G>A p.Arg168* nonsense MBD, inter-domain region, TRD, TRD-NLS, C-term Mutation associated with disease Rett syndrome-classical Female 4305 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Classical Female 4371 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Classical Female 4372 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-Atypical Female 4373 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Not Known Female 4461 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Not Known Female 4462 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Not Known Female 4463 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Not Known Female 4464 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Not Known Female 4465 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 4715 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 4716 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 4811 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 4842 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 4843 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 4870 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 4871 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 4872 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-classical Female 4873 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 5055 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 5056 View details
c.502C>T g.153296777G>A p.Arg168* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 5057 View details
c.[502C>T;880C>T] g.[153296777G>A;153296399G>A] p.Arg168* nonsense inter-domain region, TRD Mutation associated with disease Rett syndrome-not certain Female 5242 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain region Mutation associated with disease Not Rett synd. Female 6737 View details
c.[502C>T; 880C>T] g.[153296777G>A;153296399G>A] p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6621 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6501 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6500 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6499 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6498 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6497 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6496 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6495 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6494 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6493 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6492 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6491 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6490 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6489 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6488 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6487 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6486 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6485 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6484 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6483 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6482 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6481 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6480 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6479 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6478 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6477 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6476 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6475 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6474 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6473 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6472 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6471 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6470 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6469 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6468 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6467 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6466 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6465 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6464 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6463 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6462 View details
c.502C>T g.153296777G>A p.Arg168* nonsense Inter-domain Mutation associated with disease Rett syndrome-classical Female 6461 View details
c.567dupA g.153296712dupT p.Arg190fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease Rett syndrome-Not certain Female 1969 View details
c.567dupA g.153296712dupT p.Arg190fs Frameshift insertion or deletion Inter-domain region Mutation associated with disease Not Known Female 1970 View details
c.566dupG g.153296713dupC p.Arg190fs frameshift insertion or deletion inter-domain region Mutation associated with disease Rett syndrome-Classical Female 4374 View details
c.592A>T g.153296687T>A p.Arg198* Nonsense Inter-domain region Mutation associated with disease Rett syndrome-Classical Female 930 View details
c.592A>T g.153296687T>A p.Arg198* nonsense inter-domain region Mutation associated with disease Rett syndrome-not certain Female 3200 View details
c.633G>C g.153296646C>G p.Arg211Ser Missense TRD Polymorphism not causing disease Rett syndrome-Classical Female 2134 View details
c.633G>C g.153296646C>G p.Arg211Ser Missense TRD Polymorphism not causing disease Not Rett synd. Male 2135 View details
c.633G>C g.153296646C>G p.Arg211Ser missense TRD Polymorphism not causing disease Not Rett synd. Unknown 5189 View details
c.750C>T g.153296529G>A p.Arg250Arg Silent TRD Silent polymorphism Not Rett synd. Female 1238 View details
c.750C>T g.153296529G>A p.Arg250Arg Silent TRD Silent polymorphism Rett syndrome-Not certain Female 1633 View details
c.750C>T g.153296529G>A p.Arg250Arg silent TRD Silent polymorphism Not Rett synd. Unknown 5191 View details
c.748dupC g.153296531dupG p.Arg250fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 33 View details
c.748dupC g.153296531dupG p.Arg250fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1866 View details
c.748_753del6insGGCCG g.153296526_153296531delinsCGGCC p.Arg250fs Frameshift combined insertion and deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1872 View details
c.748_749insT g.153296530_153296531insA p.Arg250fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3267 View details
c.749G>A g.153296530C>T p.Arg250His Missense TRD Polymorphism not causing disease Rett syndrome-Not certain Female 1852 View details
c.749G>A g.153296530C>T p.Arg250His Missense TRD Polymorphism not causing disease Not Rett synd. Male 1853 View details
c.756_759delCAGG g.153296520_153296523delCCTG p.Arg253fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Classical Female 188 View details
c.756_759delCAGG g.153296520_153296523delCCTG p.Arg253fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 3757 View details
c.755dupG g.153296524dupC p.Arg253fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 4103 View details
c.755dupG g.153296524dupC p.Arg253fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-male variant Male 4104 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 27 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 86 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 87 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 88 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 89 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 90 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 91 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 92 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 113 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 114 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 115 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 198 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 199 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 200 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 214 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 215 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 216 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 240 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 241 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 242 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 243 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 244 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 245 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 277 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 278 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 303 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 304 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 305 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 306 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 307 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 336 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 337 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 356 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 357 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 421 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 427 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 462 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 477 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 480 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 481 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 948 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 935 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Unknown 898 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome- Unknown 899 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Unknown 896 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Unknown 897 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Unknown 895 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 871 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 870 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 869 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Unknown 842 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1080 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1081 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1082 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1083 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1084 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1085 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1086 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1087 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1088 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1089 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1090 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1091 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1146 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1147 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1169 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1198 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1207 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1213 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1220 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1322 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1323 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1324 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1325 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1326 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1327 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1328 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1329 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1330 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1331 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1408 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1409 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1450 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1451 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1469 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1470 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1471 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1472 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1473 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1494 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-classical Unknown 1510 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-atypical Unknown 1511 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-atypical Unknown 1512 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-atypical Unknown 1513 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-atypical Unknown 1514 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1591 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1602 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1605 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1608 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1623 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1730 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1733 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1739 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1747 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1750 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1753 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1759 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1769 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1786 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1797 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1803 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 1804 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1854 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1892 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1893 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-atypical Female 1920 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-atypical Female 1921 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-classical Female 1922 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-atypical Female 1936 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-classical Female 1938 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-classical Female 1944 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-classical Female 1962 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-classical Female 1963 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 2018 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 2020 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 2031 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 2034 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Not Known Female 2042 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 2263 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2264 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 2265 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 2266 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2267 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2268 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2269 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2270 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2271 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2272 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 2273 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2274 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2275 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 2276 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 2277 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2278 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2279 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2280 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2281 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2282 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2283 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 2284 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2285 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2286 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2398 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2402 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2412 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Congenital onset Female 2418 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Congenital onset Female 2426 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2431 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2433 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2434 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2446 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2459 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2465 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2473 View details
c.763C>T g.153296516G>A p.Arg255* Nonsense TRD Mutation associated with disease Rett syndrome-Forme fruste Female 2477 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2599 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2600 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2601 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2602 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2603 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 2769 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2821 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2822 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2860 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2879 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2897 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2898 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2899 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2940 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-atypical Female 2965 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-atypical Female 2966 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-atypical Female 2967 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2981 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2982 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3005 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3041 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3042 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3061 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3201 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3202 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3203 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3204 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3205 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3206 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3207 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3208 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3209 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3210 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3211 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3212 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3213 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3214 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3215 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3216 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3370 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3371 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3372 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3373 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3479 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3480 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3481 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3482 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3483 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3484 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3485 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3486 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3487 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3488 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3489 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3490 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3491 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3579 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3580 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3581 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3582 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3583 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3706 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3707 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3708 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3709 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3710 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3711 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3712 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3713 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3714 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3715 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3716 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3805 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3813 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-atypical Female 3814 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Not Known Female 4145 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Not Known Female 4146 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Not Known Female 4147 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Not Known Female 4148 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 4261 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 4262 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 4263 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 4264 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 4265 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 4307 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 4377 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 4378 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 4379 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 4380 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 4381 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Not Known Female 4482 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Not Rett synd. Female 4483 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Not Known Female 4484 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Not Known Female 4485 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Not Known Female 4486 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Not Known Female 4487 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Not Known Female 4488 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Not Known Female 4489 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Not Known Female 4490 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 4717 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 4718 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 4719 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 4720 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 4813 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 4845 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-atypical Female 4846 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 4875 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 4876 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 4912 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 4925 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 4926 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 5049 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 5050 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Not Rett synd. Female 5126 View details
c.763C>T g.153296516G>A p.Arg255* nonsense NLS Mutation associated with disease Rett syndrome-classical Female 6743 View details
c.763C>T g.153296516G>A p.Arg255* nonsense NLS Mutation associated with disease Rett syndrome-classical Female 6742 View details
c.763C>T g.153296516G>A p.Arg255* nonsense NLS Mutation associated with disease Rett syndrome-classical Female 6741 View details
c.763C>T g.153296516G>A p.Arg255* nonsense NLS Mutation associated with disease Rett syndrome-classical Female 6740 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6460 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6459 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6458 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6457 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6456 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6455 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6454 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6453 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-congenital Female 6452 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6451 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6408 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6407 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6405 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6406 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6404 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6403 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6402 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6401 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6400 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6399 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6398 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6397 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6396 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6394 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6395 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6393 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6392 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6391 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6390 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6388 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6389 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6387 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6386 View details
c.763C>T g.153296516G>A p.Arg255* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6385 View details
c.764_765ins8 p.Arg255fs Frameshift insertion or deletion TRD Mutation associated with disease Not Known Female 1671 View details
c.756_763dup g.153296516_153296523dup p.Arg255fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-classical Female 2888 View details
c.763_1383del621ins15 p.Arg255_Ile461delins5 in-frame combined insertion and deletion TRD, TRD-NLS, C-term Mutation associated with disease Not Known Female 4481 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 8 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 93 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 94 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 95 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 96 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 97 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 98 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 99 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 100 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 116 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 117 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 118 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 130 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 178 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 179 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 180 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 201 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 202 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 246 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 247 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 248 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 279 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 280 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 281 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 310 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 311 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 312 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 313 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 338 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 339 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 340 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 341 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 358 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 371 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Atypical Female 382 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 389 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 390 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 392 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Atypical Female 401 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 417 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Atypical Female 455 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Atypical Female 460 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Atypical Female 464 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 943 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 941 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 940 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 922 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 920 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 903 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Unknown 901 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Unknown 902 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1092 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1093 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1094 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1095 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1096 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1097 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1098 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1099 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Rett synd. Female 1149 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1156 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1157 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1158 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1159 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1216 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1253 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 1332 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 1333 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 1334 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 1335 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 1336 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 1337 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 1338 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 1339 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Unknown 1340 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1410 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1411 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1412 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1413 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1414 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1415 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1416 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1417 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Male variant Male 1435 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1474 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1475 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 1476 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Unknown 1515 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Unknown 1516 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Unknown 1517 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Unknown 1518 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1595 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1619 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1626 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1643 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1681 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1684 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1688 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1703 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1709 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1738 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1772 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1775 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1781 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1782 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 1783 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1828 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1831 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1849 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1860 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1868 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1898 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 1957 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1968 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Not Known Female 2012 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2289 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2290 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2291 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2292 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 2293 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Atypical Female 2294 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2295 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2296 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 2297 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2298 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Atypical Female 2299 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2300 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2301 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2302 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2303 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2304 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2305 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Atypical Female 2306 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2307 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2410 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2414 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2435 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2439 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Congenital onset Female 2443 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2451 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2452 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2456 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2471 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2479 View details
c.808C>T g.153296471G>A p.Arg270* Nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2481 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 2543 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2606 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2607 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2608 View details
c.[26+22C>G(;) 808C>T] g.[153357620G>C;153296471G>A] p.Arg270* intronic variation, nonsense intronic, TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2823 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2824 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2826 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2827 View details
c.[26+22C>G(;) 808C>T] g.[153357620G>C;153296471G>A] p.Arg270* intronic variation, nonsense intronic variation, TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2831 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2900 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2941 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2942 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2943 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-atypical Female 2969 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2983 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3043 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3055 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3056 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3057 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3058 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3217 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3218 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3219 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3220 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3221 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3222 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3223 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3224 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3225 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3226 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3227 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3228 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3229 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3230 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3231 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3232 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3233 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3234 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3360 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3400 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3401 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3402 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3492 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3493 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3494 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3495 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3496 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3497 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3498 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3499 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3500 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3501 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3502 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3503 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3584 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3585 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3586 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3587 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3588 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3589 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3590 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3717 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3718 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3719 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3720 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3721 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3722 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3723 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3724 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3725 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3726 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3727 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3728 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3729 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3730 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3731 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3795 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 4068 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 4069 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Not Known Female 4149 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Not Known Female 4150 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Not Known Female 4151 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 4266 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 4267 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 4268 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 4269 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 4270 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 4271 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-Atypical Female 4272 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 4311 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 4320 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 4382 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 4383 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Not Known Female 4491 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Not Known Female 4492 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Not Known Female 4493 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Not Known Female 4494 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Not Known Female 4495 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Not Known Female 4496 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 4721 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 4722 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 4723 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 4814 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 4877 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 4927 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 4928 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 4929 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 5058 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 5128 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 5129 View details
c.808C>T g.153296471G>A p.Arg270* nonsense NLS Mutation associated with disease Rett syndrome-classical Female 6746 View details
c.808C>T g.153296471G>A p.Arg270* nonsense NLS Mutation associated with disease Not Known Female 6745 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6450 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6449 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6448 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6447 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6446 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6445 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6444 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6443 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6441 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6442 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6440 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6439 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6438 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6437 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6436 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6435 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6434 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6432 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6433 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6431 View details
c.808C>T g.153296471G>A p.Arg270* nonsense TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6430 View details
c.808delC g.153296471delG p.Arg270fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 2 View details
c.808delC g.153296471delG p.Arg270fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 34 View details
c.808delC g.153296471delG p.Arg270fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 189 View details
c.808delC g.153296471delG p.Arg270fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1115 View details
c.808delC g.153296471delG p.Arg270fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Not certain Female 1870 View details
c.808delC g.153296471delG p.Arg270fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2287 View details
c.808delC g.153296471delG p.Arg270fs Frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-Classical Female 2288 View details
c.808delC g.153296471delG p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Not Rett synd. Male 2793 View details
c.808delC g.153296471delG p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 2797 View details
c.808delC g.153296471delG p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 2798 View details
c.808delC g.153296471delG p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-classical Female 2861 View details
c.808delC g.153296471delG p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-atypical Female 2968 View details
c.808delC g.153296471delG p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-not certain Female 3275 View details
c.808delC g.153296471delG p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3411 View details
c.808delC g.153296471delG p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3743 View details
c.808delC g.153296471delG p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-classical Female 3766 View details
c.808delC g.153296471delG p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-classical Female 4224 View details
c.808delC g.153296471delG p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-male variant Male 4225 View details
c.808delC g.153296471delG p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6605 View details
c.808delC g.153296471delG p.Arg270fs frameshift insertion or deletion TRD-NLS Mutation associated with disease Rett syndrome-classical Female 6604 View details
c.807_*125del780 g.153295693_153296472del780 p.Arg270_Ser486delinsGln In-frame insertion or deletion TRD-NLS Mutation associated with disease Not Known Female 1722 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 101 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 102 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 119 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 148 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 181 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 182 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 183 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 184 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 203 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 204 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 249 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 250 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 251 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 252 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 282 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 283 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 314 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 315 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 316 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 317 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 343 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 344 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 345 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 346 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 378 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 387 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 388 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 393 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 403 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 410 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 420 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 478 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 947 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 945 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 926 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Forme fruste Unknown 909 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 907 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 908 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 905 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 906 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 904 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 874 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 873 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 872 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1100 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1101 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1102 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1103 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1104 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1105 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1106 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1166 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1167 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1168 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1211 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1229 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1230 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1260 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1261 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1341 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1342 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1343 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1344 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1345 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1346 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1347 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1348 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1349 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1350 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1351 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1352 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1353 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1354 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1378 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1418 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1419 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1420 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 1453 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-atypical Unknown 1519 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1689 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1690 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1694 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1701 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1718 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1728 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1731 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1760 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1784 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1785 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 1791 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1840 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1901 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 1902 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-atypical Female 1928 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-classical Female 1934 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-classical Female 1953 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-classical Female 1956 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-classical Female 1958 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 2048 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 2052 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Not Known Female 2064 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2308 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 2309 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2310 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2311 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 2312 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 2313 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2314 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Not certain Female 2315 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2316 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2317 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2318 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2319 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2397 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2403 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2445 View details
c.880C>T g.153296399G>A p.Arg294* Nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2449 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-male variant Male 2550 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2611 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2612 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2613 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 2614 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-preserved speech Female 2647 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2828 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2859 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2864 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2880 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2881 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2901 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Not Rett synd. Female 2911 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2944 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-atypical Female 2970 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2984 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 2985 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3006 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3016 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3017 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3044 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3045 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3059 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3060 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3235 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3236 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3237 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3238 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3239 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3240 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3241 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3242 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3243 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3244 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3245 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3246 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3247 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3248 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3249 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3250 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3251 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3252 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3363 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3364 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3365 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3403 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3404 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-preserved speech Female 3405 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3504 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3505 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3506 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3591 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3592 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 3593 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3732 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3733 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3734 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3735 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3736 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3737 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 3738 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-atypical Female 3739 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-atypical Female 3740 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-atypical Female 3741 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-atypical Female 3742 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 4090 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 4091 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Not Known Female 4129 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Not Known Female 4130 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Not Known Female 4131 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Not Known Female 4132 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Not Known Female 4133 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Not Known Female 4134 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 4293 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 4294 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-Classical Female 4295 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 4296 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 4297 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 4298 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 4309 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 4384 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-Atypical Female 4385 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Not Known Female 4499 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Not Known Female 4500 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Not Known Female 4501 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Not Known Female 4502 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Not Known Female 4503 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Not Known Female 4504 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Not Known Female 4505 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 4724 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 4725 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 4726 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 4727 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 4847 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 4913 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-not certain Female 4921 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 4930 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 5130 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Not Rett synd. Female 5131 View details
c.880C>T g.153296399G>A p.Arg294* Missense TRD Mutation associated with disease Not Known Female 6761 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6429 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6428 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Not Rett synd. Female 6427 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6426 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6425 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6424 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6423 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6422 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6421 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6420 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-forme fruste Female 6419 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6418 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6417 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6416 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6415 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6414 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6413 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6412 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6411 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Not Known Female 6410 View details
c.880C>T g.153296399G>A p.Arg294* nonsense TRD Mutation associated with disease Rett syndrome-classical Female 6409 View details
c.880_884del5 g.153296395_153296399del5 p.Arg294fs Frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-Not certain Female 1254 View details
c.881_902del22 g.153296377_153296398del22 p.Arg294fs frameshift insertion or deletion TRD Mutation associated with disease Rett syndrome-not certain Female 3605 View details
c.881G>C g.153296398C>G p.Arg294Pro Missense TRD Polymorphism not causing disease Rett syndrome-Not certain Female 1903 View details
c.881G>C g.153296398C>G p.Arg294Pro Missense TRD Polymorphism not causing disease Not Rett synd. Male 1904 View details
c.[881_1169del289; 1189_1196del8] g.[153296110_153296398del289;153296083_153296090del8] p.Arg294_Asp398delinsHisLeuSerProArgAla In-frame insertion or deletion, frameshift insertion or deletion TRD, C-term Mutation associated with disease Rett syndrome-classical Unknown 1528 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 25 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 73 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 74 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 75 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 76 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 77 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 78 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 121 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 133 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 136 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Preserved speech Female 168 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 169 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 170 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 171 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 172 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 194 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 234 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 235 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 269 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 319 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 320 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 321 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 322 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 323 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 324 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 385 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Atypical Female 409 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 452 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Atypical Female 459 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 469 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 932 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 927 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Unknown 913 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Unknown 911 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Unknown 912 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 862 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 861 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 860 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 859 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 858 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 857 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 856 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1054 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1055 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1056 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1057 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1058 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1059 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1060 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1061 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Preserved speech Female 1178 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 1209 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 1231 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 1232 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1304 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1305 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Unknown 1306 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 1401 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 1402 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 1454 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1483 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-atypical Unknown 1520 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-classical Female 1554 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Rett synd. Female 1555 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-atypical Female 1558 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1609 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 1706 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 1748 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 1765 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 1773 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 1778 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 1789 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 1807 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1832 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1833 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 1905 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-atypical Female 1959 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-atypical Female 1964 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 2011 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 2032 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 2035 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 2040 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 2054 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2320 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 2322 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2323 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 2324 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Atypical Female 2325 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2326 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 2327 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Not certain Female 2329 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Atypical Female 2330 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2400 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2409 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Preserved speech Female 2413 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2432 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2437 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Rett syndrome-Classical Female 2467 View details
c.916C>T g.153296363G>A p.Arg306Cys Missense TRD Mutation associated with disease Not Known Female 2488 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-Classical Female 2616 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-Classical Female 2617 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-Classical Female 2618 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-Classical Female 2619 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-Classical Female 2620 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 2648 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 2815 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 2816 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 2852 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 2853 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-forme fruste Female 2875 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 2876 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 2877 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 2878 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 2902 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 2903 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 2945 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 2946 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 2947 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Not Rett synd. Female 2976 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 3001 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 3002 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 3014 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 3015 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 3018 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3143 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3144 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3145 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3146 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3147 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3148 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3149 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3150 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3151 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3152 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3153 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3154 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3155 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3156 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3157 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3158 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 3361 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 3362 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 3386 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 3387 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-classical Female 3388 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-preserved speech Female 3389 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3453 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3454 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3455 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3456 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3457 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3458 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3459 View details
c.916C>T g.153296363G>A p.Arg306Cys missense TRD Mutation associated with disease Rett syndrome-not certain Female 3460 View details
c.916C>T