Summary of FOXG1 mutations: By Frequency | Systematic Name | Protein change


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Summary by Frequency


No: Systematic Name Amino acid change Frequency Percentage
1 c.460dupG p.Glu154Glyfs*301 10 15.63
2 c.256dupC p.Gln86Profs*35 4 6.25
3 c.572T>G p.Met191Arg 3 4.69
4 c.624C>G p.Tyr208* 2 3.13
5 c.515_577del63 p.Gly172_Met192del 2 3.13
6 c.159_161dupCCA p.His57dup 2 3.13
7 c.256C>T p.Gln86* 2 3.13
8 c.577G>A p.Ala193Thr 2 3.13
9 c.326C>T p.Pro109Leu 2 3.13
10 c.969delC p.Ser323Argfs*3 1 1.56
11 c.263_278del16 p.Arg88Profs*99 1 1.56
12 c.735delC p.Tyr246Thrfs*80 1 1.56
13 c.681C>G p.Asn227Lys 1 1.56
14 c.689G>A p.Arg230His 1 1.56
15 c.757A>G p.Asn253Asp 1 1.56
16 c.136C>T p.Gln46* 1 1.56
17 c.755G>T p.Gly252Val 1 1.56
18 c.651C>G p.Tyr217* 1 1.56
19 c.757A>G p.Asn253Asp 1 1.56
20 c.765G>A p.Trp255* 1 1.56
21 c.505_506delGGinsT p.Gly169Serfs*23 1 1.56
22 c.755G>T p.Gly252Val 1 1.56
23 c.222_223dupGC p.Pro75Argfs*118 1 1.56
24 c.552dupC p.Ser185Glnfs*270 1 1.56
25 c.610C>T p.Leu204Phe 1 1.56
26 c.505_506delGGinsT p.Gly169Serfs*23 1 1.56
27 c.1200C>G p.Tyr400* 1 1.56
28 c.430G>T p.Glu144* 1 1.56
29 c.730C>T p.Arg244Cys 1 1.56
30 c.133_469del337insACCCACCGCCCC p.Pro45Thrfs*39 1 1.56
31 c.788_792delACGTG p.Asp263Valfs*190 1 1.56
32 c.586C>T p.Gln196* 1 1.56
33 c.1248C>G p.Tyr416* 1 1.56
34 c.762C>G p.Tyr254* 1 1.56
35 c.643T>C p.Phe215Leu 1 1.56
36 c.256delC p.Gln86Argfs*106 1 1.56
37 c.[563C>G(;)644_645delTCinsCT] p.[Ala188Gly(;)Phe215Ser] 1 1.56
38 c.924G>A p.Trp308* 1 1.56
39 c.1200C>A p.Tyr400* 1 1.56
40 c.263_278del16 p.Arg88Profs*99 1 1.56
41 c.506dup p.Lys170Glnfs*285 1 1.56
42 c.974_975insA p.Ser326Glufs*129 1 1.56
43 c.700T>C p.Ser234Pro 1 1.56
44 c.506delG p.Gly169Alafs*23 1 1.56
45 Records