Nucleotide changeFrequencyPercentage
c.473C>T4208.74
c.502C>T3647.57
c.763C>T3196.64
c.808C>T2765.74
c.916C>T2475.14
c.880C>T2394.97
c.397C>T2174.52
c.316C>T1342.79
c.378-17delT901.87
c.455C>G711.48
c.806delG631.31
c.1189G>A491.02
c.1164_1207del44481.00
c.1157_1197del41470.98
c.897C>T380.79
c.582C>T380.79
c.27-?_*?del330.69
c.1233C>T300.62
c.1157_1200del44300.62
c.602C>T300.62
c.419C>T290.60
c.378-74C>T290.60
c.*98dupA230.48
c.*878C>G230.48
c.401C>G210.44
c.317G>A210.44
c.674C>G200.42
c.808delC200.42
c.917G>A190.40
c.377+22C>G190.40
c.*9G>A190.40
c.*7856A>C180.37
c.1126C>T170.35
c.695G>C170.35
c.-168-?_*?dup170.35
c.-116_-114dupAGG160.33
c.423C>G160.33
c.905C>G160.33
c.608C>T150.31
c.468C>G150.31
c.-168-?_26+?del140.29
c.590C>T140.29
c.587C>G140.29
c.1330G>A140.29
c.710delG130.27
c.1035A>G130.27
c.*1737G>A130.27
c.1157_1188del32120.25
c.1168_1173del6120.25
c.378-?_*?del110.23
c.*8503delC110.23
c.1163_1188del26110.23
c.856_859delAAAG100.21
c.1335G>A100.21
c.819G>T100.21
c.965C>T90.19
c.-114_-104del1180.17
c.1197C>T80.17
c.375C>A80.17
c.815C>T80.17
c.426C>T80.17
c.398G>A80.17
c.403A>G80.17
c.527C>G70.15
c.710dupG70.15
c.964C>G70.15
c.508C>T70.15
c.1282G>A70.15
c.834C>T70.15
c.683C>G70.15
AY523575.1:g.1029dupC70.15
c.1315G>A70.15
c.298C>G70.15
c.1075T>C70.15
c.(378_1461)_(378_1461)del60.12
c.-167_-99del60.12
c.1216C>T60.12
c.753delC60.12
not certain60.12
c.1154_1197del4460.12
c.686C>T60.12
c.905C>T60.12
c.-143_-138dup60.12
c.777C>T60.12
c.984C>T60.12
c.611C>G50.10
c.1339G>A50.10
c.1133C>T50.10
c.316C>G50.10
c.1234G>A50.10
c.925C>T50.10
c.380C>T50.10
c.*3477G>A50.10
c.1161_1400del24050.10
c.499C>T50.10
c.1163_1197del3550.10
c.695delG50.10
c.696delC50.10
c.1072G>A50.10
c.-143_-138dup650.10
c.302C>G50.10
c.843C>T50.10
c.1288C>T50.10
c.401C>T50.10
c.422A>G50.10
c.1205C>T50.10
c.1157_1191del3550.10
c.1206C>T50.10
c.932C>T40.08
c.518C>G40.08
c.378-2A>G40.08
c.27-2A>G40.08
c.1202G>A40.08
c.904C>G40.08
c.1326C>T40.08
c.146C>A40.08
c.*328G>A40.08
c.393C>G40.08
c.1196C>T40.08
c.1410_1411delCA40.08
c.1164_1206del4340.08
c.1159_1160delCCinsT40.08
c.1081C>G40.08
c.1180G>A40.08
c.473C > T40.08
c.301C>T40.08
c.1214C>T40.08
c.210C>T40.08
c.808C > T40.08
c.753dupC40.08
c.1152_1195del4440.08
c.289G>T40.08
c.1127_1179del5340.08
c.1266C>T40.08
c.-156C>T40.08
c.914A>G40.08
c.*93G>A40.08
c.840C>T40.08
c.730C>T40.08
c.996C>T30.06
c.633G>C30.06
c.1194_1195insT30.06
c.898G>A30.06
c.1116_1201del8630.06
c.-99+2_-99+3delTG30.06
c.753C>T30.06
c.905C>A30.06
c.1430G>C30.06
c.1142_1227del8630.06
c.168C>T30.06
c.1165_1190del2630.06
c.1162C>T30.06
c.474G>A30.06
c.1250A>T30.06
c.1156_1197del4230.06
c.397C > T30.06
c.750C>T30.06
c.469T>A30.06
c.27-?_1018+?del30.06
c.666C>G30.06
c.752_753dupCC30.06
c.377+24C>A30.06
c.1030C>T30.06
c.378-2A>C30.06
c.1155_1200del4630.06
c.27-?_1397+?del30.06
c.*4576A>C30.06
c.27-?_377+?del (exon 3 deletion)30.06
c.1436C>T30.06
c.1160_1185del2630.06
c.378-3C>G30.06
c.1215C>T30.06
c.1163C>T30.06
c.[984C>T; 1161_1163del]30.06
c.*14G>A30.06
c.1197dupC30.06
c.[502C>T];[695G>C]30.06
c.1438C>T30.06
c.365T>C30.06
c.763C > T30.06
c.27-?_1337+?del30.06
c.948C>G30.06
c.836C>T30.06
c.1151C>T30.06
c.*55C>G30.06
c.378-109A>G30.06
c.108_111delAGAA20.04
c.1071C>T20.04
c.1327G>A20.04
c.676_677insA20.04
c.27-?_(378_1461)del20.04
c.1162_1179del1820.04
c.1373G>A20.04
c.985G>A20.04
c.910A>G20.04
c.592A>T20.04
c.27-?_1170+?del (deletion of exon 3 and part of exon 4)20.04
c.1357C>T20.04
c.695dupG20.04
c.-160A>T20.04
c.748dupC20.04
c.1105delC20.04
c.386G>T20.04
c.464T>C20.04
c.1164_1184delinsCTGAGCCCCAGGACTTGAGCA 20.04
c.64A>T20.04
c.799A>T20.04
c.651_652delTG20.04
c.382C>T20.04
c.1044-?_1442+?del20.04
c.100_103delGATA20.04
c.1132G>T20.04
c.984C>A20.04
c.1161C>T20.04
c.1164_1208del4520.04
c.889C>T20.04
c.953A>C20.04
c.1141C>G20.04
c.1157_1199del4320.04
c.1151_1188del3820.04
c.720C>G20.04
c.*92C>T20.04
c.488_489delGG20.04
c.1133C>G20.04
c.27-?_*?del (deletion of exons 3 and 4)20.04
c.-146_-138del920.04
c.*3878G>C20.04
c.229_238del1020.04
c.372G>C20.04
c.1233_1243del1120.04
c.27-8C>G20.04
c.1145_1194del5020.04
c.392C>A20.04
c.441C > G20.04
c.755dupG20.04
c.514C>T20.04
c.153C>G20.04
c.1441G>A20.04
c.397C>G20.04
c.375delC20.04
c.482G>T20.04
c.1163_1179del1720.04
c.598A>T20.04
c.1372C>T20.04
c.*5486_*5487dupAT20.04
c.377+95G>A20.04
c.1087A>T20.04
c.1135_1142del820.04
c.76delC20.04
c.454C>G20.04
c.1132_1202del7120.04
c.*7748C>T20.04
c.542C>T20.04
c.1324_1364del4120.04
c.942C>T20.04
c.-168-?_*?del20.04
c.1160_1200del4120.04
c.-15C>T20.04
c.1358G>A20.04
c.-146_-138dup920.04
c.[26+22C>G(;) 808C>T]20.04
c.1454_1457del420.04
c.1057_1219del16320.04
c.756_759delCAGG20.04
c.567dupA20.04
c.1158_1167del1020.04
c.291C>A20.04
c.1396-?_1397+?del20.04
c.1308_1309delTC20.04
c.*8503dupC20.04
c.1162_1191del3020.04
c.1157_1187del3120.04
c.479C>G20.04
c.515C>T20.04
c.547G>C20.04
c.36G>C20.04
c.674C>T20.04
c.1160_1180del2120.04
c.194C>G20.04
c.881G>C20.04
c.1158_1200del4320.04
c.1239C>T20.04
c.119_120delAG20.04
c.55C>T20.04
c.1160_1166del720.04
c.452A>G20.04
c.467A>G20.04
c.690A>C20.04
c.1101_1201del10120.04
c.502C > T20.04
c.992A>G20.04
c.909C>G20.04
c.749G>A20.04
c.613G>T20.04
c.464T>G20.04
c.*8C>T20.04
c.1158_1198del4120.04
c.*177G>C20.04
c.167_168delCC20.04
c.617G>C20.04
c.472A>G20.04
c.1127_1137del1120.04
c.720C>T20.04
c.1156_1172del1720.04
c.*5348T>C20.04
c.430A>T20.04
c.784C>T20.04
c.964C>T20.04
c.378-?_1337+?del20.04
c.46C>T20.04
c.[834C>T(;) 965C>T]10.02
c.1157_1192del3610.02
c.914_1172del25910.02
c.[=/657-?_1316+?del]10.02
c.982C>G10.02
c.1156_1200del4510.02
c.962_1267delinsG10.02
c.1129_*568delinsCCGTGG10.02
c.[1157_1197del41; 1232_1240del9]10.02
c.[905C>T;917G>A]10.02
c.27-4722_*112delinsCACTTTGTG10.02
c.812_818del710.02
c.1163_1200del3810.02
c.[641_653del13; 711_1309del599]10.02
c.478dupA10.02
c.27-?_1021+?del (deletion of exons 3 and start of exon 4)10.02
c.611C>A10.02
c.243dupC10.02
c.591G>A10.02
c.-116_-114dup10.02
c.27-12521_*5072del1978410.02
c.871T>G10.02
c.164_182del10.02
c.[1063_1188del126; 1189_1231inv; 1232_1236del5]10.02
c.[763C>T(;)1449G>C]10.02
c.484dupA10.02
c.*204G>A10.02
c.27-6C>G10.02
c.[=/316C>T]10.02
c.*2657G>A10.02
c.1189G>T10.02
c.*875dupA10.02
c.378-14G>A10.02
c.378-?_1185+?del10.02
c.224C>T 10.02
c.734_759del2610.02
c.523A>T10.02
c.854dupA10.02
c.1093_1095delGAG10.02
c.378-61C>G10.02
c.[1077_1079delCTC(;) 1142C>T(;) 1157_1200del44]10.02
c.711_1269del55910.02
c.*122delT10.02
c.1039_1195del157insGT10.02
c.[1123_1189del;1249_1270del]10.02
c.1155_1183del2910.02
c.[502C>T;880C>T]10.02
c.27-6026_1190delinsGT (deletion of exons 3 and 4)10.02
c.[808C>T(;) 1233C>T]10.02
c.857_858dupAA10.02
c.894_1095del20210.02
c.585C>T10.02
c.390dupA10.02
c.620dupT10.02
c.679C>T10.02
c.1320dupT10.02
c.1079C>A10.02
c.1417G>C10.02
c.660C>T10.02
c.26+25171_13878del50531ins14 (exons 3 and 4 deleted)10.02
c.1148_1193del10.02
c.1069_1071delAGC10.02
c.[802C>T(;) 808C>T]10.02
c.795C>G10.02
c.*371G>C10.02
c.377+2T>G10.02
c.*2706G>A10.02
c.*1237T>C10.02
c.411delG10.02
c.420delG10.02
c.1336-?_*?del10.02
c.756_763dup10.02
c.596C>A10.02
c.874_875insA10.02
c.249_250ins710.02
c.27-?_1029+?del (deletion of exon 3 and partial deletion of exon 4)10.02
c.28G>T10.02
c.1153_1188del3610.02
c.748_749insT10.02
c.184-?_1065+?del10.02
c.[1159_1174del16; 1205_1432del228]10.02
c.1324A>G10.02
c.[880C>T(;)1430G>C]10.02
c.[203C>G;1094_1138del45]10.02
c.27-3928_1184del (deletion of exons 3 and 4)10.02
[c.897C>T (+) c.(378_1461)_(378_1461)del]10.02
c.1403_1408del610.02
c.820_823dupAGTG10.02
c.1048_1095del4810.02
c.842_843insT10.02
c.378-?_1170+?del10.02
c.[316C>T(;)917G>T(;)1061G>A]10.02
CDKL5: c.119C>T10.02
c.233delC10.02
c.[1202G>A];[1202G>A]10.02
c.554delG10.02
c.-138_-134dup10.02
c.1023_*14472del1491110.02
c.1164_1172del910.02
c.717del C10.02
c.[455C>G(;)683C>G]10.02
c.[750C>T(;)1459T>C]10.02
c.1138G>A10.02
c.*544G>A10.02
c.201delG10.02
c.[316C>T(;)1233C>T]10.02
c.*2956G>A10.02
c.669_686conAL078639.5:g.94544_9461110.02
c.*3662A>G10.02
c.1190dupA10.02
c.566dupG10.02
c.898_904del710.02
c.56dupA10.02
c.1461A>G10.02
c.627G>A10.02
c.[1158_1167del10; 1173_1188del16]10.02
c.752C>T10.02
c.[426C>T(;) 502C>T]10.02
c.1123_1202del8010.02
c.318_321dup10.02
c.822_1184del36310.02
c.[397C>T(;)1061G>T]10.02
c.1450_*12del2410.02
c.[1104_1106del3;1157_1197del41]10.02
c.[945_1025conNM_004992.3:c.1196_1252; 1136_*8554+2526del]10.02
c.481_987del507ins810.02
c.573delC10.02
c.1196_1266del7110.02
c.277C>T10.02
c.1163_1216del5410.02
c.829delG10.02
c.1169-?_*?del10.02
c.1061G>A10.02
c.-99+1G>A10.02
c.378-3_383del910.02
c.[1132_1159del28;1167_1176del10];[1132_1159del28;1167_1176del10]10.02
c.806del G10.02
c.377A>G10.02
c.*554G>A10.02
c.[334A>T(;)871T>G]10.02
c.[377+28A>G(;)1014C>T]10.02
c.*4086_*4087delGT10.02
c.451delG10.02
c.900_908del10.02
c.1012_1202del19110.02
c.673C>A10.02
c.898_901del10.02
c.[=/360T>G]10.02
c.1115_1201del8710.02
c.1363G>T10.02
c.413T>A10.02
c.481G>T10.02
c.[584_624del41insTT; 638delTinsCA]10.02
c.830_831ins2310.02
c.315dupA10.02
c.[184-?_1065+?del; *5338_*5361+?del]10.02
c.[377+22C>G; 378-74C>T]10.02
c.[1089_1129del41;1156_1197del42]10.02
c.[27-5862_1132del; 1157_1197del]10.02
c.617delG10.02
c.[916C>T(;)984C>T]10.02
c.[1104_1106del3(;) 1157_1197del41]10.02
c.364G>A10.02
c.215C>T10.02
c.863_881del1910.02
c.906_1138del233insAC10.02
c.[397C>T; 1164_1207del44]10.02
c.1210G>A10.02
c.377+1G>T10.02
c.916C > T10.02
c.[343C>T(;)1075_1178del104]10.02
c.[1148_1177del30];[1148_1177del30]10.02
c.1159_1210del5210.02
c.1132_1207del7710.02
c.869dupA10.02
c.*767G>T10.02
c.1163_*39del33810.02
c.[473C>T(;)590C>T]10.02
c.*3658C>T10.02
c.736_737insAT10.02
p.[378-17delT]; [1161_1169del9;1178C>T; 1181_1191del11; 1233C>T]10.02
c.*5839C>T10.02
c.[881_1169del289; 1189_1196del8]10.02
c.1153_1190del3810.02
c.603G>A10.02
c.-138_-134dupCGCCG10.02
c.26+2T>A10.02
c.[1038_1119del82; 1169_1339del171ins137]10.02
c.686C>A10.02
c.27-6215_1190del8136 (Deletion of exon 3 and part of exon 4)10.02
c.1330_1342del1310.02
c.[965C>T(;)999G>T]10.02
c.[1121_1311del191; 1326_1334del9]10.02
c.1415_1416delAG10.02
c.715delG10.02
c.1117_1203del8710.02
c.538A>T10.02
c.748_753del6insGGCCG10.02
c.851_1188del33810.02
c.739delG10.02
c.377+28A>G10.02
c.1156_1157dupCT10.02
c.[880C>T(;)*9G>A]10.02
c.[1104C>T; 1107_1327del221]10.02
c.[1024_1025insAG;1029delG;1155_1209del55]10.02
c.[27-5944_1132del; 1157_1197del] 10.02
c.1097_1203del10710.02
c.[608C>T(;)763C>T]10.02
c.[1161_1166del6; 1180_1205del26]10.02
c.[380C>T];[380C>T]10.02
c.155A>G10.02
c.1048_1199del15210.02
c.[502C>T(;)897C>T]10.02
c.398G>C10.02
c.[1164_1207 del(;)1231_1233delAGC ]10.02
c.[502C>T; 1136_1142del7]10.02
c.1284C>T10.02
c.1158_1186del2910.02
c.917G > A10.02
c.471C>G10.02
c.495delC10.02
c.*861T>G10.02
c.1030_1195del166insGT10.02
c.[473C>T(;)1233C>T]10.02
c.1160_1188del2910.02
c.[378-74C>T(;)473C>T]10.02
c.1452_1453dup10.02
c.[26+22C>G(;)468C>G]10.02
c.1154_1185del3210.02
c.689_756del6810.02
c.[27-5690_1208del7628ins42];[439G>A]10.02
c.258_259delCA10.02
c.[276_277insG(;) 1162_1179del18]10.02
c.225G>A10.02
c.760A>T10.02
c.[1112_1116del; 1116_1137inv; 1138_1152del15ins7]10.02
c.1-?dup10.02
c.611_612delinsAG10.02
c.865_866delAA10.02
c.299T>G10.02
c.398G>T10.02
c.377+30G>A10.02
c.1157_*944del124910.02
c.[377+22C>G(;)378-74C>T]10.02
c.[1137C>T;1157_1200del44]10.02
c.27-5774_902delinsGTGCCCGGACTGATGTCA (deletion of exon 3 and part of exon 4)10.02
c.126dupG10.02
c.1085_1197del11310.02
c.[473C>T];[473C>T]10.02
c.1404G>A10.02
c.-114_-104dup1110.02
c.994_1346del35310.02
c.410A>G10.02
c.1114C>T10.02
c.[763C>T(;)1233C>T]10.02
c.[965_970del6; 1029dupG; 1138_1208del71]10.02
c.[27-?_377+?del(;)1085_1216del132]10.02
c.-206_-205delGC10.02
c.427G>A10.02
c.1455_1456dupTA10.02
c.*359G>C10.02
c.531delA10.02
c.1097_*13del37810.02
c.[473C>T(;)1335G>A]10.02
c.1200dupC10.02
c.1235_1260del2610.02
c.[378-74C>T];[378-74C>T]10.02
c.422dupA10.02
c.482G>A10.02
c.736_743delinsGTG10.02
c.1-?_26+?del (Deletion of exons 1 and 2)10.02
c.1338_1354del10.02
c.[397C>T(;) 582C>T]10.02
c.[528C>G; 897C>T]10.02
c.1160_1200del41insAGGGGTGG10.02
c.1-?_26+?dup10.02
c.[609G>A(;)905C>T]10.02
c.439delG10.02
c.1155_1166del1210.02
c.883delT10.02
c.378-70C>G10.02
c.1159_1458del30010.02
c.[488_995del508;1061_1062delGC;1229_1240del12]10.02
c.27-9A>G10.02
c.1053_1156del10410.02
c.913A>G10.02
c.[502C>T; 880C>T]10.02
c.467A>C10.02
c.994_998delAGCGG10.02
c.[964C>G(;)*98dupA]10.02
c.1017-?_1397+?del10.02
c.[502C>T(;)750C>A]10.02
c.[1118_1300del183ins61];[1157_1197del41]10.02
c.455C>T10.02
c.[27-?_1000+?dup(;)1100_1188del89]10.02
c.-187_-186delAG10.02
c.[=/398G>A]10.02
c.1153_1190del10.02
c.*363G>C10.02
c.635_655del2110.02
c.819delG10.02
c.*1368C>A10.02
c.1096_1201del10610.02
c.400T>C10.02
c.903C>T10.02
c.[426C>T(;)608C>T]10.02
c.609G>A10.02
c.413T>C10.02
c.[426C>T(;)916C>T]10.02
c.763_1383del621ins1510.02
c.999G>T10.02
c.573C>T10.02
c.864dupG10.02
c.1161_1166del610.02
c.107_113del710.02
c.297C>G10.02
c.731_1166del43610.02
c.869_880delinsCACA10.02
c.898delG10.02
c.755delG10.02
c.431delA10.02
c.431A>G10.02
c.1159_1160ins30010.02
c.[378-74C>T;602C>T];[378-74C>T]10.02
c.[897C>T(;)1155_1200del46]10.02
c.[401C>G;1168_1173del6]10.02
c.[1129_1133delAAGGCinsGAGT; 1155_1200del46]10.02
c.1015T>C10.02
c.377A>T10.02
c.904C>A10.02
Not known10.02
c.-159T>C10.02
c.1169-?_1170+?del10.02
c.[710G>T(;)763C>T]10.02
c.[1161_1166del6; 1180_1205del26] 10.02
c.-187_-186delinsTT10.02
c.1061_1156del9610.02
c.1004_1173delinsCTGTGTAA10.02
c.27-?_*8554+?del (deletion of exons 3 and 4)10.02
c.880_884del510.02
c.1128_1179del5210.02
c.[397C>T(;)1233C>T]10.02
c.378-241C>T10.02
c.[455C>G(;)582C>T]10.02
c.906C>G10.02
c.1104_1106del310.02
c.308G>A10.02
c.[502C>T(;)1326C>T]10.02
c.428_429insT10.02
c.834_939del10610.02
c.215dupC10.02
c.1364_1365insC10.02
c.1164_1194del3110.02
c.117dupA10.02
c.341G>C10.02
c.747_751dup510.02
c.1437G>A10.02
c.906delC10.02
c.1433G>A10.02
c.1164delA10.02
c.[1189G>A(;)*55C>G]10.02
c.[473C>T];[1189G>A]10.02
c.1408_1411del4insTG10.02
c.766_779dup1410.02
c.654_657delGAAG10.02
c.753_754dup10.02
c.463T>A10.02
c.914A>C10.02
c.372G>T10.02
c.91delG10.02
c.378-65C>G10.02
c.1169-?_1397+?del10.02
c.[1163_1173del11; 1176_1193del18]10.02
[c.695 G > T; c.880C > T]10.02
c.*1134G>A10.02
c.345delC10.02
c.[=/808delC]10.02
c.1101_1396+?del (deletion of exon 4 near stop codon)10.02
c.1099_1118del2010.02
c.1162_1163delCC10.02
c.517C>G10.02
c.[398G>T(;)602C>T]10.02
c.[423C>G];[=]10.02
c.[473C>T(;)*14G>A]10.02
c.-113_-106dup10.02
c.1065C>T10.02
c.274G>T10.02
c.1340C>T10.02
c.857A>G 10.02
c.807_*125del78010.02
c.[880C>T];[1326C>T]10.02
c.50dupA10.02
c.1265_1289del25insAGCGGCCG10.02
c.409_1158del10.02
c.215_216insT10.02
c.483delG10.02
c.1150_1192del4310.02
c.767_1175del40910.02
c.1009_1027del1910.02
c.1165_1233del69ins2110.02
c.[1197_1237inv; 1238_1266del]10.02
c.[397C>T(;)438C>T]10.02
c.820_1153del334ins6710.02
c.865A>T10.02
c.1152_1292del14110.02
c.378-2A>T10.02
c.961A>G10.02
c.203C>G10.02
c.311_323del1310.02
c.850A>G10.02
c.317G>T10.02
c.[*8500C>G];[*8503delC]10.02
c.-143_-138del610.02
c.898_1099del20210.02
c.1162_1163delinsTA10.02
c.1121_1191del7110.02
c.1163_1201del3910.02
c.[590C>T(;)916C>T]10.02
c.[763C>T(;)1133C>G]10.02
c.[1126C>T];[1126C>T]10.02
c.[834C>T(;) 856_859delAAAG(;) 1180G>A]10.02
c.[808C>T(;) 1326C>T]10.02
c.911A>G 10.02
c.[752C>T];[1038_1191del154]10.02
c.[535C>T(;) 763C>T]10.02
c.[763C>T(;)1071C>T]10.02
c.574A>T10.02
c.382_1189del80810.02
c.792_793delTC10.02
c.1152_*29del10.02
c.1046_1206del16110.02
c.-113C>T10.02
c.1202dupG10.02
c.[819G>T(;)1161C>T]10.02
c.855_859del5ins1210.02
c.470_471delTC10.02
c.1223_1265del4310.02
c.1157_1184del2810.02
c.-119_-114dupAGGAGG10.02
c.-140_-138dup310.02
c.[1053_1054ins10; 1145_1199del55]10.02
c.1141C>T10.02
c.107_108delAA10.02
c.311G>A10.02
c.849C>G10.02
c.-395G>T10.02
c.631-?_657+?del10.02
c.*36G>C10.02
c.*8500C>G10.02
c.-112G>A10.02
c.989_994delinsGCATCTTCTCCTCTTT10.02
c.679C>G10.02
c.1167_1200del3410.02
c.750_750delCinsTCAGGAAGCTT10.02
c.[916C>T(;)1233C>T]10.02
c.*393G>A10.02
c.622C>T10.02
c.[880C>T(;)1233C>T]10.02
c.1137C>T10.02
c.1118C>G10.02
c.943_1140del198ins610.02
c.1129_1193del6510.02
c.601dupG10.02
c.1065C>A10.02
c.140dupA10.02
c.470dupT10.02
c.867_1223delinsA10.02
c.475delG10.02
c.1053C>G10.02
c.1078_*2524del290810.02
c.[378-61C>G; *93G>A]10.02
c.[502C>T;1180G>A];[832G>A]10.02
c.[1317_*623delins22; *796_*822del]10.02
c.-99+2_30delTG10.02
c.[1043_1056del14; 1061_1074del14; 1104_1106del3; 1138_1163del26; 1178_1185del8]10.02
c.1229G>A10.02
c.677_678insA10.02
c.1173_1207del3510.02
c.302C>A10.02
c.1123_1191del6910.02
c.[401C>G; 1168_1173del6]10.02
c.543_544delTC10.02
c.1160C>T10.02
c.1255C>T10.02
c.631-?_657+?dup10.02
c.-131delinsGA10.02
c.-160A>G10.02
c.189_190delGA10.02
c.[=/167_168delCC]10.02
c.439G>A10.02
c.27-55G>A10.02
c.295_297delACC10.02
c.1043_1173del131insTG10.02
c.[1233C>T(;)1460G>T]10.02
c.*489G>C10.02
c.-102_-101delGA10.02
c.1170_1207del3810.02
c.28G>C10.02
c.1271_1416del14610.02
c.*487G>C10.02
c.849_1236del38810.02
c.1030C>G10.02
c.[1451G>C];[*98dupA]10.02
c.[777C>T(;)1157_1197del41]10.02
c.871_1044del10.02
c.480delT10.02
c.1012_1193del18210.02
c.1180_1181insT10.02
c.1105_1225del12110.02
c.1135_1142delCCCGTGCC10.02
c.832G>A10.02
c.27-96_1205del (deletion of exon 3 and 4)10.02
c.362A>G10.02
c.480_481delTG10.02
c.605G>A10.02
c.[1051_1065del15; 1088_1115del28; 1138_1207del70]10.02
c.1461A>C10.02
c.226delG10.02
c.881_902del2210.02
c.302C>T10.02
c.667A>T10.02
c.1450_1453delAGAG10.02
c.1127C>G10.02
c.1193A>C10.02
c.[397C>T; 602C>T]10.02
c.257C>G10.02
c.810_813delAAAG10.02
c.323T>A10.02
c.1451G>C10.02
c.377+18C>G10.02
c.331A>G10.02
c.[1363G>T];[=]10.02
c.377+6_377+9del10.02
c.[916C>T(;)*98dupA]10.02
c.*529G>T10.02
c.35_42dup10.02
c.326dupA10.02
c.1214_1230del1710.02
c.383A>C10.02
c.764_765ins810.02
c.-98-?_377+?del (deletion of exons 2 and 3)10.02
c.785_818del3410.02
c.[602C>T(;) 1157_1197del41]10.02
c.[=/473C>T];[473C>T]10.02
c.377+11G>C10.02
c.1028_1158del10.02
c.488_1189del70210.02
c.-113_-106del810.02
c.[1105_1116del12; 1152_1195del44]10.02
c.[992_994delAGA; 1029delG; 1061G>T; 1167_1200del34]10.02
c.[590C>T(;)674C>T]10.02
c.[678delT];[378-109A>G;518C>G]10.02
c.[1004_1037del; 1051_1054del; 1059_1072del; 1161_*2598del]10.02
c.*156G>T10.02
c.1038C>G10.02
c.1147_1174del2810.02
c.1151_1183del3310.02
c.1052_1200del14910.02
c.[1103_1172del; 1185_1191del]10.02
c.[518C>G(;)678delT]10.02
c.1115_1326del21210.02
c.1316C>T10.02
c.358T>G10.02
c.1384-1385del GT10.02
c.[1155_1172del18; 1373G>A]10.02
c.816_832del1710.02
c.1176G>A10.02
c.1278C>T10.02
c.377+266T>C10.02
c.*92C>G10.02
c.*806G>A10.02
uncertain10.02
c.377+1G>A10.02
c.27-?_1185+?del10.02
c.1276_*113del299ins310.02
c.830delC10.02
c.529A>T10.02
c.[1035A>G(;)1233C>T]10.02
c.-168-?_26+?del (deletion exons 1 and 2)10.02
c.1041_*29del45010.02
c.248-?_320+?del (exon 3 deletion)10.02
c.908T>G10.02
c.1161_1205del45insA10.02
c.608_609insA10.02
c.1446C>T10.02
c.720dupC10.02
c.766A>T10.02
c.1061G>T10.02
c.[378-109A>G;518C>G]10.02
c.27-4722_*739delins4310.02
complex rearrangement10.02
c.[806delG(;) *8C>T]10.02
c.1449G>A10.02
c.310T>C10.02
c.506_507dupAG10.02
c.1158_1186del29insCCA10.02
c.1152_1155del410.02
c.1159_1201del4310.02
c.535C>T10.02
c.616_1122del50710.02
c.752C>G10.02
c.859G>C10.02
c.1205_1206insT10.02
c.[1373G>A; 1448_*29del43]10.02
c.904C>T10.02
c.279C>T10.02
c.245A>G10.02
c.629A>T10.02
c.*2556T>A10.02
c.343_1282del10.02
c.*831G>C10.02
c.566delG10.02
c.[1125_1137del13; 1138_1263inv; 1158_1201del; 1263_1264insGGA]10.02
c.146C>G10.02
c.1151_1191del4110.02

925 records found.