Nucleotide change	Frequency	Percentage
c.473C>T	420	8.74
c.502C>T	364	7.57
c.763C>T	319	6.64
c.808C>T	276	5.74
c.916C>T	247	5.14
c.880C>T	239	4.97
c.397C>T	217	4.52
c.316C>T	134	2.79
c.378-17delT	90	1.87
c.455C>G	71	1.48
c.806delG	63	1.31
c.1189G>A	49	1.02
c.1164_1207del44	48	1.00
c.1157_1197del41	47	0.98
c.897C>T	38	0.79
c.582C>T	38	0.79
c.27-?_*?del	33	0.69
c.1157_1200del44	30	0.62
c.602C>T	30	0.62
c.1233C>T	30	0.62
c.419C>T	29	0.60
c.378-74C>T	29	0.60
c.*878C>G	23	0.48
c.*98dupA	23	0.48
c.401C>G	21	0.44
c.317G>A	21	0.44
c.674C>G	20	0.42
c.808delC	20	0.42
c.917G>A	19	0.40
c.377+22C>G	19	0.40
c.*9G>A	19	0.40
c.*7856A>C	18	0.37
c.695G>C	17	0.35
c.1126C>T	17	0.35
c.-168-?_*?dup	17	0.35
c.423C>G	16	0.33
c.905C>G	16	0.33
c.-116_-114dupAGG	16	0.33
c.608C>T	15	0.31
c.468C>G	15	0.31
c.-168-?_26+?del	14	0.29
c.590C>T	14	0.29
c.587C>G	14	0.29
c.1330G>A	14	0.29
c.710delG	13	0.27
c.1035A>G	13	0.27
c.*1737G>A	13	0.27
c.1157_1188del32	12	0.25
c.1168_1173del6	12	0.25
c.378-?_*?del	11	0.23
c.*8503delC	11	0.23
c.1163_1188del26	11	0.23
c.856_859delAAAG	10	0.21
c.1335G>A	10	0.21
c.819G>T	10	0.21
c.965C>T	9	0.19
c.1197C>T	8	0.17
c.375C>A	8	0.17
c.815C>T	8	0.17
c.426C>T	8	0.17
c.398G>A	8	0.17
c.403A>G	8	0.17
c.-114_-104del11	8	0.17
AY523575.1:g.1029dupC	7	0.15
c.1282G>A	7	0.15
c.508C>T	7	0.15
c.834C>T	7	0.15
c.683C>G	7	0.15
c.1315G>A	7	0.15
c.298C>G	7	0.15
c.1075T>C	7	0.15
c.527C>G	7	0.15
c.710dupG	7	0.15
c.964C>G	7	0.15
c.-167_-99del	6	0.12
c.1216C>T	6	0.12
c.753delC	6	0.12
c.1154_1197del44	6	0.12
c.686C>T	6	0.12
not certain	6	0.12
c.905C>T	6	0.12
c.-143_-138dup	6	0.12
c.777C>T	6	0.12
c.984C>T	6	0.12
c.(378_1461)_(378_1461)del	6	0.12
c.380C>T	5	0.10
c.1072G>A	5	0.10
c.1161_1400del240	5	0.10
c.-143_-138dup6	5	0.10
c.499C>T	5	0.10
c.1163_1197del35	5	0.10
c.1288C>T	5	0.10
c.695delG	5	0.10
c.696delC	5	0.10
c.843C>T	5	0.10
c.1339G>A	5	0.10
c.302C>G	5	0.10
c.925C>T	5	0.10
c.1133C>T	5	0.10
c.422A>G	5	0.10
c.1205C>T	5	0.10
c.401C>T	5	0.10
c.1206C>T	5	0.10
c.*3477G>A	5	0.10
c.1157_1191del35	5	0.10
c.611C>G	5	0.10
c.316C>G	5	0.10
c.1234G>A	5	0.10
c.27-2A>G	4	0.08
c.1202G>A	4	0.08
c.1410_1411delCA	4	0.08
c.904C>G	4	0.08
c.1326C>T	4	0.08
c.1159_1160delCCinsT	4	0.08
c.473C > T	4	0.08
c.*328G>A	4	0.08
c.1214C>T	4	0.08
c.1180G>A	4	0.08
c.146C>A	4	0.08
c.808C > T	4	0.08
c.393C>G	4	0.08
c.1196C>T	4	0.08
c.1164_1206del43	4	0.08
c.1081C>G	4	0.08
c.301C>T	4	0.08
c.210C>T	4	0.08
c.1152_1195del44	4	0.08
c.289G>T	4	0.08
c.518C>G	4	0.08
c.753dupC	4	0.08
c.1127_1179del53	4	0.08
c.-156C>T	4	0.08
c.914A>G	4	0.08
c.1266C>T	4	0.08
c.840C>T	4	0.08
c.730C>T	4	0.08
c.*93G>A	4	0.08
c.378-2A>G	4	0.08
c.932C>T	4	0.08
c.1165_1190del26	3	0.06
c.1162C>T	3	0.06
c.1436C>T	3	0.06
c.474G>A	3	0.06
c.168C>T	3	0.06
c.27-?_377+?del (exon 3 deletion)	3	0.06
c.750C>T	3	0.06
c.469T>A	3	0.06
c.1197dupC	3	0.06
c.666C>G	3	0.06
c.752_753dupCC	3	0.06
c.1030C>T	3	0.06
c.*14G>A	3	0.06
c.365T>C	3	0.06
c.1438C>T	3	0.06
c.378-2A>C	3	0.06
c.1155_1200del46	3	0.06
c.763C > T	3	0.06
c.1160_1185del26	3	0.06
c.378-3C>G	3	0.06
c.1215C>T	3	0.06
c.27-?_1337+?del	3	0.06
c.1163C>T	3	0.06
c.[984C>T; 1161_1163del]	3	0.06
c.*55C>G	3	0.06
c.378-109A>G	3	0.06
c.[502C>T];[695G>C]	3	0.06
c.836C>T	3	0.06
c.1151C>T	3	0.06
c.996C>T	3	0.06
c.1142_1227del86	3	0.06
c.753C>T	3	0.06
c.1250A>T	3	0.06
c.948C>G	3	0.06
c.397C > T	3	0.06
c.1156_1197del42	3	0.06
c.633G>C	3	0.06
c.1194_1195insT	3	0.06
c.27-?_1018+?del	3	0.06
c.898G>A	3	0.06
c.1116_1201del86	3	0.06
c.-99+2_-99+3delTG	3	0.06
c.377+24C>A	3	0.06
c.27-?_1397+?del	3	0.06
c.*4576A>C	3	0.06
c.905C>A	3	0.06
c.1430G>C	3	0.06
c.386G>T	2	0.04
c.464T>C	2	0.04
c.64A>T	2	0.04
c.5486_5487dupAT	2	0.04
c.1135_1142del8	2	0.04
c.454C>G	2	0.04
c.1161C>T	2	0.04
c.1164_1208del45	2	0.04
c.889C>T	2	0.04
c.*7748C>T	2	0.04
c.953A>C	2	0.04
c.651_652delTG	2	0.04
c.100_103delGATA	2	0.04
c.1151_1188del38	2	0.04
c.720C>G	2	0.04
c.*92C>T	2	0.04
c.488_489delGG	2	0.04
c.[26+22C>G(;) 808C>T]	2	0.04
c.1057_1219del163	2	0.04
c.942C>T	2	0.04
c.1396-?_1397+?del	2	0.04
c.*8503dupC	2	0.04
c.229_238del10	2	0.04
c.1162_1191del30	2	0.04
c.27-8C>G	2	0.04
c.1145_1194del50	2	0.04
c.515C>T	2	0.04
c.547G>C	2	0.04
c.1441G>A	2	0.04
c.36G>C	2	0.04
c.1160_1180del21	2	0.04
c.372G>C	2	0.04
c.1372C>T	2	0.04
c.119_120delAG	2	0.04
c.377+95G>A	2	0.04
c.1160_1166del7	2	0.04
c.1087A>T	2	0.04
c.452A>G	2	0.04
c.397C>G	2	0.04
c.375delC	2	0.04
c.482G>T	2	0.04
c.1163_1179del17	2	0.04
c.598A>T	2	0.04
c.76delC	2	0.04
c.502C > T	2	0.04
c.1132_1202del71	2	0.04
c.542C>T	2	0.04
c.1324_1364del41	2	0.04
c.992A>G	2	0.04
c.-15C>T	2	0.04
c.1158_1198del41	2	0.04
c.1358G>A	2	0.04
c.-146_-138dup9	2	0.04
c.1454_1457del4	2	0.04
c.909C>G	2	0.04
c.-168-?_*?del	2	0.04
c.1160_1200del41	2	0.04
c.1158_1167del10	2	0.04
c.291C>A	2	0.04
c.1308_1309delTC	2	0.04
c.784C>T	2	0.04
c.378-?_1337+?del	2	0.04
c.756_759delCAGG	2	0.04
c.567dupA	2	0.04
c.1127_1137del11	2	0.04
c.1373G>A	2	0.04
c.674C>T	2	0.04
c.194C>G	2	0.04
c.1157_1187del31	2	0.04
c.1327G>A	2	0.04
c.676_677insA	2	0.04
c.479C>G	2	0.04
c.27-?_1170+?del (deletion of exon 3 and part of exon 4)	2	0.04
c.55C>T	2	0.04
c.695dupG	2	0.04
c.985G>A	2	0.04
c.881G>C	2	0.04
c.1158_1200del43	2	0.04
c.1239C>T	2	0.04
c.690A>C	2	0.04
c.1101_1201del101	2	0.04
c.1164_1184delinsCTGAGCCCCAGGACTTGAGCA	2	0.04
c.799A>T	2	0.04
c.467A>G	2	0.04
c.*177G>C	2	0.04
c.167_168delCC	2	0.04
c.1132G>T	2	0.04
c.984C>A	2	0.04
c.617G>C	2	0.04
c.472A>G	2	0.04
c.749G>A	2	0.04
c.382C>T	2	0.04
c.613G>T	2	0.04
c.1044-?_1442+?del	2	0.04
c.464T>G	2	0.04
c.*8C>T	2	0.04
c.720C>T	2	0.04
c.1156_1172del17	2	0.04
c.*5348T>C	2	0.04
c.430A>T	2	0.04
c.964C>T	2	0.04
c.1133C>G	2	0.04
c.46C>T	2	0.04
c.1141C>G	2	0.04
c.1157_1199del43	2	0.04
c.1162_1179del18	2	0.04
c.-146_-138del9	2	0.04
c.*3878G>C	2	0.04
c.108_111delAGAA	2	0.04
c.1071C>T	2	0.04
c.27-?_*?del (deletion of exons 3 and 4)	2	0.04
c.27-?_(378_1461)del	2	0.04
c.592A>T	2	0.04
c.392C>A	2	0.04
c.1357C>T	2	0.04
c.441C > G	2	0.04
c.755dupG	2	0.04
c.514C>T	2	0.04
c.-160A>T	2	0.04
c.748dupC	2	0.04
c.153C>G	2	0.04
c.1105delC	2	0.04
c.1233_1243del11	2	0.04
c.910A>G	2	0.04
c.1053_1156del104	1	0.02
c.913A>G	1	0.02
c.[316C>T(;)917G>T(;)1061G>A]	1	0.02
c.[502C>T; 880C>T]	1	0.02
c.467A>C	1	0.02
c.[1202G>A];[1202G>A]	1	0.02
c.554delG	1	0.02
c.[964C>G(;)*98dupA]	1	0.02
c.1017-?_1397+?del	1	0.02
c.1023_*14472del14911	1	0.02
c.1164_1172del9	1	0.02
c.455C>T	1	0.02
c.[27-?_1000+?dup(;)1100_1188del89]	1	0.02
c.[750C>T(;)1459T>C]	1	0.02
c.1153_1190del	1	0.02
c.*544G>A	1	0.02
c.201delG	1	0.02
c.819delG	1	0.02
c.400T>C	1	0.02
c.1190dupA	1	0.02
c.[426C>T(;)608C>T]	1	0.02
c.609G>A	1	0.02
c.898_904del7	1	0.02
c.413T>C	1	0.02
c.[426C>T(;)916C>T]	1	0.02
c.1461A>G	1	0.02
c.763_1383del621ins15	1	0.02
c.249_250ins7	1	0.02
c.[397C>T(;) 582C>T]	1	0.02
c.[528C>G; 897C>T]	1	0.02
c.1160_1200del41insAGGGGTGG	1	0.02
c.1-?_26+?dup	1	0.02
c.1155_1166del12	1	0.02
c.883delT	1	0.02
c.1324A>G	1	0.02
c.[880C>T(;)1430G>C]	1	0.02
c.378-70C>G	1	0.02
c.1159_1458del300	1	0.02
[c.897C>T (+) c.(378_1461)_(378_1461)del]	1	0.02
c.1403_1408del6	1	0.02
c.[488_995del508;1061_1062delGC;1229_1240del12]	1	0.02
c.[1129_1133delAAGGCinsGAGT; 1155_1200del46]	1	0.02
c.277C>T	1	0.02
c.1163_1216del54	1	0.02
c.1015T>C	1	0.02
c.1061G>A	1	0.02
c.377A>T	1	0.02
c.904C>A	1	0.02
c.-159T>C	1	0.02
c.1169-?_1170+?del	1	0.02
c.[1132_1159del28;1167_1176del10];[1132_1159del28;1167_1176del10]	1	0.02
c.1004_1173delinsCTGTGTAA	1	0.02
c.*554G>A	1	0.02
c.1128_1179del52	1	0.02
c.[397C>T(;)1233C>T]	1	0.02
c.451delG	1	0.02
c.[455C>G(;)582C>T]	1	0.02
c.906C>G	1	0.02
c.1012_1202del191	1	0.02
c.308G>A	1	0.02
c.[502C>T(;)1326C>T]	1	0.02
c.834_939del106	1	0.02
c.215dupC	1	0.02
c.752C>T	1	0.02
c.999G>T	1	0.02
c.573C>T	1	0.02
c.1123_1202del80	1	0.02
c.1161_1166del6	1	0.02
c.107_113del7	1	0.02
c.869_880delinsCACA	1	0.02
c.898delG	1	0.02
c.[397C>T(;)1061G>T]	1	0.02
c.1450_*12del24	1	0.02
c.431A>G	1	0.02
c.1159_1160ins300	1	0.02
c.481_987del507ins8	1	0.02
c.[401C>G;1168_1173del6]	1	0.02
c.[916C>T(;)984C>T]	1	0.02
c.1408_1411del4insTG	1	0.02
c.766_779dup14	1	0.02
c.215C>T	1	0.02
c.753_754dup	1	0.02
c.[397C>T; 1164_1207del44]	1	0.02
c.914A>C	1	0.02
c.372G>T	1	0.02
c.378-65C>G	1	0.02
c.1169-?_1397+?del	1	0.02
c.[1148_1177del30];[1148_1177del30]	1	0.02
c.1159_1210del52	1	0.02
[c.695 G > T; c.880C > T]	1	0.02
c.*1134G>A	1	0.02
c.[=/808delC]	1	0.02
c.*767G>T	1	0.02
c.1163_*39del338	1	0.02
c.1162_1163delCC	1	0.02
c.736_737insAT	1	0.02
c.[398G>T(;)602C>T]	1	0.02
c.[881_1169del289; 1189_1196del8]	1	0.02
c.1153_1190del38	1	0.02
c.[473C>T(;)*14G>A]	1	0.02
c.-113_-106dup	1	0.02
c.26+2T>A	1	0.02
c.[1038_1119del82; 1169_1339del171ins137]	1	0.02
c.274G>T	1	0.02
c.1330_1342del13	1	0.02
c.[965C>T(;)999G>T]	1	0.02
c.857A>G	1	0.02
c.1115_1201del87	1	0.02
c.481G>T	1	0.02
c.1164_1194del31	1	0.02
c.117dupA	1	0.02
c.315dupA	1	0.02
c.1437G>A	1	0.02
c.906delC	1	0.02
c.[377+22C>G; 378-74C>T]	1	0.02
c.1433G>A	1	0.02
c.1164delA	1	0.02
c.617delG	1	0.02
c.1097_1203del107	1	0.02
c.[608C>T(;)763C>T]	1	0.02
c.820_1153del334ins67	1	0.02
c.155A>G	1	0.02
c.1152_1292del141	1	0.02
c.378-2A>T	1	0.02
c.[502C>T(;)897C>T]	1	0.02
c.961A>G	1	0.02
c.203C>G	1	0.02
c.1284C>T	1	0.02
c.1158_1186del29	1	0.02
c.[8500C>G];[8503delC]	1	0.02
c.*861T>G	1	0.02
c.1030_1195del166insGT	1	0.02
c.1163_1201del39	1	0.02
c.1160_1188del29	1	0.02
c.[590C>T(;)916C>T]	1	0.02
c.[763C>T(;)1133C>G]	1	0.02
c.1154_1185del32	1	0.02
c.[834C>T(;) 856_859delAAAG(;) 1180G>A]	1	0.02
c.[808C>T(;) 1326C>T]	1	0.02
c.258_259delCA	1	0.02
c.911A>G	1	0.02
c.715delG	1	0.02
c.50dupA	1	0.02
c.748_753del6insGGCCG	1	0.02
c.409_1158del	1	0.02
c.215_216insT	1	0.02
c.739delG	1	0.02
c.767_1175del409	1	0.02
c.1009_1027del19	1	0.02
c.[880C>T(;)*9G>A]	1	0.02
c.[1104C>T; 1107_1327del221]	1	0.02
c.[1197_1237inv; 1238_1266del]	1	0.02
c.126dupG	1	0.02
c.855_859del5ins12	1	0.02
c.470_471delTC	1	0.02
c.1404G>A	1	0.02
c.1157_1184del28	1	0.02
c.-119_-114dupAGGAGG	1	0.02
c.994_1346del353	1	0.02
c.410A>G	1	0.02
c.1141C>T	1	0.02
c.107_108delAA	1	0.02
c.[763C>T(;)1233C>T]	1	0.02
c.[965_970del6; 1029dupG; 1138_1208del71]	1	0.02
c.-395G>T	1	0.02
c.631-?_657+?del	1	0.02
c.-206_-205delGC	1	0.02
c.*8500C>G	1	0.02
c.*359G>C	1	0.02
c.531delA	1	0.02
c.1097_*13del378	1	0.02
c.1200dupC	1	0.02
c.1235_1260del26	1	0.02
c.[916C>T(;)1233C>T]	1	0.02
c.*393G>A	1	0.02
c.422dupA	1	0.02
c.[880C>T(;)1233C>T]	1	0.02
c.1118C>G	1	0.02
c.1338_1354del	1	0.02
c.943_1140del198ins6	1	0.02
c.760A>T	1	0.02
c.[535C>T(;) 763C>T]	1	0.02
c.611_612delinsAG	1	0.02
c.574A>T	1	0.02
c.382_1189del808	1	0.02
c.299T>G	1	0.02
c.398G>T	1	0.02
c.1152_*29del	1	0.02
c.1046_1206del161	1	0.02
c.[377+22C>G(;)378-74C>T]	1	0.02
c.-113C>T	1	0.02
c.1202dupG	1	0.02
c.27-9A>G	1	0.02
c.-99+2_30delTG	1	0.02
c.[1043_1056del14; 1061_1074del14; 1104_1106del3; 1138_1163del26; 1178_1185del8]	1	0.02
c.1173_1207del35	1	0.02
c.994_998delAGCGG	1	0.02
c.[401C>G; 1168_1173del6]	1	0.02
c.543_544delTC	1	0.02
c.[502C>T(;)750C>A]	1	0.02
c.[1118_1300del183ins61];[1157_1197del41]	1	0.02
c.1255C>T	1	0.02
c.631-?_657+?dup	1	0.02
c.-187_-186delAG	1	0.02
c.[=/398G>A]	1	0.02
c.-160A>G	1	0.02
c.*363G>C	1	0.02
c.635_655del21	1	0.02
c.439G>A	1	0.02
c.*1368C>A	1	0.02
c.1096_1201del106	1	0.02
c.295_297delACC	1	0.02
c.903C>T	1	0.02
c.[1233C>T(;)1460G>T]	1	0.02
c.*489G>C	1	0.02
c.-102_-101delGA	1	0.02
c.1170_1207del38	1	0.02
c.28G>C	1	0.02
c.1065C>A	1	0.02
c.140dupA	1	0.02
c.[609G>A(;)905C>T]	1	0.02
c.439delG	1	0.02
c.867_1223delinsA	1	0.02
c.475delG	1	0.02
c.1053C>G	1	0.02
c.1078_*2524del2908	1	0.02
c.[502C>T;1180G>A];[832G>A]	1	0.02
c.[1317_623delins22; 796_*822del]	1	0.02
c.605G>A	1	0.02
c.[1051_1065del15; 1088_1115del28; 1138_1207del70]	1	0.02
c.226delG	1	0.02
c.881_902del22	1	0.02
Not known	1	0.02
c.667A>T	1	0.02
c.1450_1453delAGAG	1	0.02
c.[710G>T(;)763C>T]	1	0.02
c.[1161_1166del6; 1180_1205del26]	1	0.02
c.1193A>C	1	0.02
c.[397C>T; 602C>T]	1	0.02
c.-187_-186delinsTT	1	0.02
c.1061_1156del96	1	0.02
c.810_813delAAAG	1	0.02
c.27-?_*8554+?del (deletion of exons 3 and 4)	1	0.02
c.880_884del5	1	0.02
c.1451G>C	1	0.02
c.[1363G>T];[=]	1	0.02
c.378-241C>T	1	0.02
c.[916C>T(;)*98dupA]	1	0.02
c.*529G>T	1	0.02
c.1104_1106del3	1	0.02
c.326dupA	1	0.02
c.428_429insT	1	0.02
c.1214_1230del17	1	0.02
c.383A>C	1	0.02
c.1364_1365insC	1	0.02
c.-98-?_377+?del (deletion of exons 2 and 3)	1	0.02
c.864dupG	1	0.02
c.1030C>G	1	0.02
c.[1451G>C];[*98dupA]	1	0.02
c.297C>G	1	0.02
c.731_1166del436	1	0.02
c.871_1044del	1	0.02
c.480delT	1	0.02
c.755delG	1	0.02
c.431delA	1	0.02
c.1180_1181insT	1	0.02
c.1105_1225del121	1	0.02
c.[378-74C>T;602C>T];[378-74C>T]	1	0.02
c.[897C>T(;)1155_1200del46]	1	0.02
c.832G>A	1	0.02
c.27-96_1205del (deletion of exon 3 and 4)	1	0.02
c.654_657delGAAG	1	0.02
c.*156G>T	1	0.02
c.463T>A	1	0.02
c.1147_1174del28	1	0.02
c.1151_1183del33	1	0.02
c.91delG	1	0.02
c.[518C>G(;)678delT]	1	0.02
c.1115_1326del212	1	0.02
c.[1163_1173del11; 1176_1193del18]	1	0.02
c.1316C>T	1	0.02
c.358T>G	1	0.02
c.345delC	1	0.02
c.1384-1385del GT	1	0.02
c.[1155_1172del18; 1373G>A]	1	0.02
c.1101_1396+?del (deletion of exon 4 near stop codon)	1	0.02
c.1099_1118del20	1	0.02
c.1278C>T	1	0.02
c.517C>G	1	0.02
c.377+266T>C	1	0.02
c.[423C>G];[=]	1	0.02
c.*92C>G	1	0.02
c.*806G>A	1	0.02
c.1065C>T	1	0.02
c.377+1G>A	1	0.02
c.27-?_1185+?del	1	0.02
c.1340C>T	1	0.02
c.1276_*113del299ins3	1	0.02
c.830delC	1	0.02
c.807_*125del780	1	0.02
c.[880C>T];[1326C>T]	1	0.02
c.[1035A>G(;)1233C>T]	1	0.02
c.[602C>T(;) 1157_1197del41]	1	0.02
c.[=/473C>T];[473C>T]	1	0.02
c.341G>C	1	0.02
c.747_751dup5	1	0.02
c.1028_1158del	1	0.02
c.488_1189del702	1	0.02
c.-113_-106del8	1	0.02
c.[1105_1116del12; 1152_1195del44]	1	0.02
c.[1189G>A(;)*55C>G]	1	0.02
c.[473C>T];[1189G>A]	1	0.02
c.[678delT];[378-109A>G;518C>G]	1	0.02
c.[1004_1037del; 1051_1054del; 1059_1072del; 1161_*2598del]	1	0.02
c.865A>T	1	0.02
c.1449G>A	1	0.02
c.310T>C	1	0.02
c.506_507dupAG	1	0.02
c.1158_1186del29insCCA	1	0.02
c.311_323del13	1	0.02
c.850A>G	1	0.02
c.535C>T	1	0.02
c.616_1122del507	1	0.02
c.317G>T	1	0.02
c.752C>G	1	0.02
c.-143_-138del6	1	0.02
c.898_1099del202	1	0.02
c.1205_1206insT	1	0.02
c.[1373G>A; 1448_*29del43]	1	0.02
c.1162_1163delinsTA	1	0.02
c.1121_1191del71	1	0.02
c.279C>T	1	0.02
c.*2556T>A	1	0.02
c.343_1282del	1	0.02
c.*831G>C	1	0.02
c.[1126C>T];[1126C>T]	1	0.02
c.146C>G	1	0.02
c.1151_1191del41	1	0.02
c.-168-?_26+?del (deletion exons 1 and 2)	1	0.02
c.1265_1289del25insAGCGGCCG	1	0.02
c.248-?_320+?del (exon 3 deletion)	1	0.02
c.908T>G	1	0.02
c.483delG	1	0.02
c.1150_1192del43	1	0.02
c.608_609insA	1	0.02
c.1165_1233del69ins21	1	0.02
c.766A>T	1	0.02
c.[397C>T(;)438C>T]	1	0.02
c.[378-109A>G;518C>G]	1	0.02
c.27-4722_*739delins43	1	0.02
c.1223_1265del43	1	0.02
c.1163_1200del38	1	0.02
c.[641_653del13; 711_1309del599]	1	0.02
c.-140_-138dup3	1	0.02
c.[1053_1054ins10; 1145_1199del55]	1	0.02
c.478dupA	1	0.02
c.27-?_1021+?del (deletion of exons 3 and start of exon 4)	1	0.02
c.311G>A	1	0.02
c.849C>G	1	0.02
c.611C>A	1	0.02
c.243dupC	1	0.02
c.*36G>C	1	0.02
c.-116_-114dup	1	0.02
c.-112G>A	1	0.02
c.989_994delinsGCATCTTCTCCTCTTT	1	0.02
c.164_182del	1	0.02
c.679C>G	1	0.02
c.1167_1200del34	1	0.02
c.484dupA	1	0.02
c.750_750delCinsTCAGGAAGCTT	1	0.02
c.[=/316C>T]	1	0.02
c.*2657G>A	1	0.02
c.622C>T	1	0.02
c.1189G>T	1	0.02
c.*875dupA	1	0.02
c.1137C>T	1	0.02
c.378-14G>A	1	0.02
c.378-?_1185+?del	1	0.02
c.224C>T	1	0.02
c.734_759del26	1	0.02
c.[752C>T];[1038_1191del154]	1	0.02
c.[834C>T(;) 965C>T]	1	0.02
c.[763C>T(;)1071C>T]	1	0.02
c.[=/657-?_1316+?del]	1	0.02
c.982C>G	1	0.02
c.792_793delTC	1	0.02
c.962_1267delinsG	1	0.02
c.1129_*568delinsCCGTGG	1	0.02
c.[819G>T(;)1161C>T]	1	0.02
c.[905C>T;917G>A]	1	0.02
c.27-4722_*112delinsCACTTTGTG	1	0.02
c.1229G>A	1	0.02
c.677_678insA	1	0.02
c.857_858dupAA	1	0.02
c.894_1095del202	1	0.02
c.302C>A	1	0.02
c.1123_1191del69	1	0.02
c.390dupA	1	0.02
c.1160C>T	1	0.02
c.679C>T	1	0.02
c.1320dupT	1	0.02
c.-131delinsGA	1	0.02
c.1417G>C	1	0.02
c.660C>T	1	0.02
c.189_190delGA	1	0.02
c.[=/167_168delCC]	1	0.02
c.1148_1193del	1	0.02
c.27-55G>A	1	0.02
c.795C>G	1	0.02
c.1043_1173del131insTG	1	0.02
c.*2706G>A	1	0.02
c.*1237T>C	1	0.02
c.420delG	1	0.02
c.1336-?_*?del	1	0.02
c.1271_1416del146	1	0.02
c.*487G>C	1	0.02
c.756_763dup	1	0.02
c.1129_1193del65	1	0.02
c.601dupG	1	0.02
c.470dupT	1	0.02
c.1093_1095delGAG	1	0.02
c.[1077_1079delCTC(;) 1142C>T(;) 1157_1200del44]	1	0.02
c.711_1269del559	1	0.02
c.[378-61C>G; *93G>A]	1	0.02
c.[1123_1189del;1249_1270del]	1	0.02
c.1155_1183del29	1	0.02
c.[502C>T;880C>T]	1	0.02
c.27-6026_1190delinsGT (deletion of exons 3 and 4)	1	0.02
c.1461A>C	1	0.02
c.820_823dupAGTG	1	0.02
c.1048_1095del48	1	0.02
c.302C>T	1	0.02
c.842_843insT	1	0.02
c.378-?_1170+?del	1	0.02
c.1127C>G	1	0.02
CDKL5: c.119C>T	1	0.02
c.233delC	1	0.02
c.257C>G	1	0.02
c.-138_-134dup	1	0.02
c.323T>A	1	0.02
c.717del C	1	0.02
c.[455C>G(;)683C>G]	1	0.02
c.377+18C>G	1	0.02
c.331A>G	1	0.02
c.1138G>A	1	0.02
c.377+6_377+9del	1	0.02
c.[316C>T(;)1233C>T]	1	0.02
c.*2956G>A	1	0.02
c.35_42dup	1	0.02
c.669_686conAL078639.5:g.94544_94611	1	0.02
c.*3662A>G	1	0.02
c.566dupG	1	0.02
c.764_765ins8	1	0.02
c.56dupA	1	0.02
c.849_1236del388	1	0.02
c.596C>A	1	0.02
c.874_875insA	1	0.02
c.[777C>T(;)1157_1197del41]	1	0.02
c.27-?_1029+?del (deletion of exon 3 and partial deletion of exon 4)	1	0.02
c.28G>T	1	0.02
c.1012_1193del182	1	0.02
c.1153_1188del36	1	0.02
c.748_749insT	1	0.02
c.1135_1142delCCCGTGCC	1	0.02
c.184-?_1065+?del	1	0.02
c.[1159_1174del16; 1205_1432del228]	1	0.02
c.362A>G	1	0.02
c.480_481delTG	1	0.02
c.[203C>G;1094_1138del45]	1	0.02
c.27-3928_1184del (deletion of exons 3 and 4)	1	0.02
c.1038C>G	1	0.02
c.573delC	1	0.02
c.1196_1266del71	1	0.02
c.1052_1200del149	1	0.02
c.[1103_1172del; 1185_1191del]	1	0.02
c.829delG	1	0.02
c.1169-?_*?del	1	0.02
c.-99+1G>A	1	0.02
c.378-3_383del9	1	0.02
c.816_832del17	1	0.02
c.1176G>A	1	0.02
c.806del G	1	0.02
c.377A>G	1	0.02
c.[334A>T(;)871T>G]	1	0.02
uncertain	1	0.02
c.[377+28A>G(;)1014C>T]	1	0.02
c.4086_4087delGT	1	0.02
c.900_908del	1	0.02
c.529A>T	1	0.02
c.673C>A	1	0.02
c.898_901del	1	0.02
c.785_818del34	1	0.02
c.627G>A	1	0.02
c.[1158_1167del10; 1173_1188del16]	1	0.02
c.377+11G>C	1	0.02
c.[426C>T(;) 502C>T]	1	0.02
c.318_321dup	1	0.02
c.822_1184del363	1	0.02
c.[992_994delAGA; 1029delG; 1061G>T; 1167_1200del34]	1	0.02
c.[590C>T(;)674C>T]	1	0.02
c.[1104_1106del3;1157_1197del41]	1	0.02
c.[945_1025conNM_004992.3:c.1196_1252; 1136_*8554+2526del]	1	0.02
c.[1104_1106del3(;) 1157_1197del41]	1	0.02
c.364G>A	1	0.02
c.1152_1155del4	1	0.02
c.1159_1201del43	1	0.02
c.863_881del19	1	0.02
c.906_1138del233insAC	1	0.02
c.1210G>A	1	0.02
c.377+1G>T	1	0.02
c.859G>C	1	0.02
c.916C > T	1	0.02
c.[343C>T(;)1075_1178del104]	1	0.02
c.904C>T	1	0.02
c.1132_1207del77	1	0.02
c.869dupA	1	0.02
c.245A>G	1	0.02
c.629A>T	1	0.02
c.[473C>T(;)590C>T]	1	0.02
c.*3658C>T	1	0.02
c.566delG	1	0.02
p.[378-17delT]; [1161_1169del9;1178C>T; 1181_1191del11; 1233C>T]	1	0.02
c.*5839C>T	1	0.02
c.[1125_1137del13; 1138_1263inv; 1158_1201del; 1263_1264insGGA]	1	0.02
c.603G>A	1	0.02
c.-138_-134dupCGCCG	1	0.02
c.686C>A	1	0.02
c.27-6215_1190del8136 (Deletion of exon 3 and part of exon 4)	1	0.02
c.1041_*29del450	1	0.02
c.[=/360T>G]	1	0.02
c.1161_1205del45insA	1	0.02
c.1363G>T	1	0.02
c.413T>A	1	0.02
c.1446C>T	1	0.02
c.720dupC	1	0.02
c.[584_624del41insTT; 638delTinsCA]	1	0.02
c.830_831ins23	1	0.02
c.1061G>T	1	0.02
c.[184-?_1065+?del; 5338_5361+?del]	1	0.02
complex rearrangement	1	0.02
c.[806delG(;) *8C>T]	1	0.02
c.[1089_1129del41;1156_1197del42]	1	0.02
c.[27-5862_1132del; 1157_1197del]	1	0.02
c.[1161_1166del6; 1180_1205del26]	1	0.02
c.[380C>T];[380C>T]	1	0.02
c.1048_1199del152	1	0.02
c.591G>A	1	0.02
c.398G>C	1	0.02
c.27-12521_*5072del19784	1	0.02
c.871T>G	1	0.02
c.[1164_1207 del(;)1231_1233delAGC ]	1	0.02
c.[502C>T; 1136_1142del7]	1	0.02
c.[1063_1188del126; 1189_1231inv; 1232_1236del5]	1	0.02
c.[763C>T(;)1449G>C]	1	0.02
c.917G > A	1	0.02
c.471C>G	1	0.02
c.*204G>A	1	0.02
c.27-6C>G	1	0.02
c.495delC	1	0.02
c.[473C>T(;)1233C>T]	1	0.02
c.[378-74C>T(;)473C>T]	1	0.02
c.1452_1453dup	1	0.02
c.[26+22C>G(;)468C>G]	1	0.02
c.523A>T	1	0.02
c.689_756del68	1	0.02
c.[27-5690_1208del7628ins42];[439G>A]	1	0.02
c.1157_1192del36	1	0.02
c.914_1172del259	1	0.02
c.[1121_1311del191; 1326_1334del9]	1	0.02
c.1415_1416delAG	1	0.02
c.1117_1203del87	1	0.02
c.538A>T	1	0.02
c.1156_1200del45	1	0.02
c.851_1188del338	1	0.02
c.[1157_1197del41; 1232_1240del9]	1	0.02
c.377+28A>G	1	0.02
c.1156_1157dupCT	1	0.02
c.812_818del7	1	0.02
c.[1024_1025insAG;1029delG;1155_1209del55]	1	0.02
c.[27-5944_1132del; 1157_1197del]	1	0.02
c.585C>T	1	0.02
c.1085_1197del113	1	0.02
c.[473C>T];[473C>T]	1	0.02
c.620dupT	1	0.02
c.-114_-104dup11	1	0.02
c.1079C>A	1	0.02
c.1114C>T	1	0.02
c.26+25171_13878del50531ins14 (exons 3 and 4 deleted)	1	0.02
c.[27-?_377+?del(;)1085_1216del132]	1	0.02
c.1069_1071delAGC	1	0.02
c.[802C>T(;) 808C>T]	1	0.02
c.427G>A	1	0.02
c.1455_1456dupTA	1	0.02
c.*371G>C	1	0.02
c.377+2T>G	1	0.02
c.[473C>T(;)1335G>A]	1	0.02
c.411delG	1	0.02
c.[378-74C>T];[378-74C>T]	1	0.02
c.482G>A	1	0.02
c.736_743delinsGTG	1	0.02
c.1-?_26+?del (Deletion of exons 1 and 2)	1	0.02
c.854dupA	1	0.02
c.[276_277insG(;) 1162_1179del18]	1	0.02
c.225G>A	1	0.02
c.378-61C>G	1	0.02
c.[1112_1116del; 1116_1137inv; 1138_1152del15ins7]	1	0.02
c.1-?dup	1	0.02
c.*122delT	1	0.02
c.1039_1195del157insGT	1	0.02
c.865_866delAA	1	0.02
c.377+30G>A	1	0.02
c.1157_*944del1249	1	0.02
c.[808C>T(;) 1233C>T]	1	0.02
c.[1137C>T;1157_1200del44]	1	0.02
c.27-5774_902delinsGTGCCCGGACTGATGTCA (deletion of exon 3 and part of exon 4)	1	0.02

925 records found.

RettBASE: RettSyndrome.org Variation Database

RettBASE: RettSyndrome.org
Variation Database