Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.117559471T>ACA368984307CFTR,CFTR-AS1c.1400T>A (p.Leu467His)
c.*1114T>A (n.*1114T>A)
c.1217T>A (p.Leu406His)
c.1395T>A (p.Thr465=)
c.*1224T>A (n.*1224T>A)
c.974T>A (p.Leu325His)
c.1310T>A (p.Leu437His)
c.1490T>A (p.Leu497His)
c.1157T>A (p.Leu386His)
n.221+1262A>T
7g.117559471T>CCA342834CFTR,CFTR-AS1c.1400T>C (p.Leu467Pro)
c.*1114T>C (n.*1114T>C)
c.1217T>C (p.Leu406Pro)
c.1395T>C (p.Thr465=)
c.*1224T>C (n.*1224T>C)
c.974T>C (p.Leu325Pro)
c.1310T>C (p.Leu437Pro)
c.1490T>C (p.Leu497Pro)
c.1157T>C (p.Leu386Pro)
n.221+1262A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117559471T>GCA368984308CFTR,CFTR-AS1c.1400T>G (p.Leu467Arg)
c.*1114T>G (n.*1114T>G)
c.1217T>G (p.Leu406Arg)
c.1395T>G (p.Thr465=)
c.*1224T>G (n.*1224T>G)
c.974T>G (p.Leu325Arg)
c.1310T>G (p.Leu437Arg)
c.1490T>G (p.Leu497Arg)
c.1157T>G (p.Leu386Arg)
n.221+1262A>C
7g.117559471T=CA1737384078CFTR,CFTR-AS1c.1400T= (p.Leu467=)
c.*1114T= (n.*1114T=)
c.1217T= (p.Leu406=)
c.1395T= (p.Thr465=)
c.*1224T= (n.*1224T=)
c.974T= (p.Leu325=)
c.1310T= (p.Leu437=)
c.1490T= (p.Leu497=)
c.1157T= (p.Leu386=)
n.221+1262A=
7g.117559472T>ACA457228740CFTR,CFTR-AS1c.1401T>A (p.Leu467=)
c.*1115T>A (n.*1115T>A)
c.1218T>A (p.Leu406=)
c.1396T>A (p.Ser466Thr)
c.*1225T>A (n.*1225T>A)
c.975T>A (p.Leu325=)
c.1311T>A (p.Leu437=)
c.1491T>A (p.Leu497=)
c.1158T>A (p.Leu386=)
n.221+1261A>T
7g.117559472T>CCA457228741CFTR,CFTR-AS1c.1401T>C (p.Leu467=)
c.*1115T>C (n.*1115T>C)
c.1218T>C (p.Leu406=)
c.1396T>C (p.Ser466Pro)
c.*1225T>C (n.*1225T>C)
c.975T>C (p.Leu325=)
c.1311T>C (p.Leu437=)
c.1491T>C (p.Leu497=)
c.1158T>C (p.Leu386=)
n.221+1261A>G
 ClinVar
7g.117559472T>GCA457228742CFTR,CFTR-AS1c.1401T>G (p.Leu467=)
c.*1115T>G (n.*1115T>G)
c.1218T>G (p.Leu406=)
c.1396T>G (p.Ser466Ala)
c.*1225T>G (n.*1225T>G)
c.975T>G (p.Leu325=)
c.1311T>G (p.Leu437=)
c.1491T>G (p.Leu497=)
c.1158T>G (p.Leu386=)
n.221+1261A>C
7g.117559473C>ACA368984309CFTR,CFTR-AS1c.1402C>A (p.Leu468Ile)
c.*1116C>A (n.*1116C>A)
c.1219C>A (p.Leu407Ile)
c.1397C>A (p.Ser466Tyr)
c.*1226C>A (n.*1226C>A)
c.976C>A (p.Leu326Ile)
c.1312C>A (p.Leu438Ile)
c.1492C>A (p.Leu498Ile)
c.1159C>A (p.Leu387Ile)
n.221+1260G>T
 gnomAD v4
7g.117559473C>GCA368984310CFTR,CFTR-AS1c.1402C>G (p.Leu468Val)
c.*1116C>G (n.*1116C>G)
c.1219C>G (p.Leu407Val)
c.1397C>G (p.Ser466Cys)
c.*1226C>G (n.*1226C>G)
c.976C>G (p.Leu326Val)
c.1312C>G (p.Leu438Val)
c.1492C>G (p.Leu498Val)
c.1159C>G (p.Leu387Val)
n.221+1260G>C
7g.117559473C>TCA457228743CFTR,CFTR-AS1c.1402C>T (p.Leu468=)
c.*1116C>T (n.*1116C>T)
c.1219C>T (p.Leu407=)
c.1397C>T (p.Ser466Phe)
c.*1226C>T (n.*1226C>T)
c.976C>T (p.Leu326=)
c.1312C>T (p.Leu438=)
c.1492C>T (p.Leu498=)
c.1159C>T (p.Leu387=)
n.221+1260G>A
 ClinVar
7g.117559474T>ACA368984311CFTR,CFTR-AS1c.1403T>A (p.Leu468Gln)
c.*1117T>A (n.*1117T>A)
c.1220T>A (p.Leu407Gln)
c.1398T>A (p.Ser466=)
c.*1227T>A (n.*1227T>A)
c.977T>A (p.Leu326Gln)
c.1313T>A (p.Leu438Gln)
c.1493T>A (p.Leu498Gln)
c.1160T>A (p.Leu387Gln)
n.221+1259A>T
7g.117559474T>CCA326473CFTR,CFTR-AS1c.1403T>C (p.Leu468Pro)
c.*1117T>C (n.*1117T>C)
c.1220T>C (p.Leu407Pro)
c.1398T>C (p.Ser466=)
c.*1227T>C (n.*1227T>C)
c.977T>C (p.Leu326Pro)
c.1313T>C (p.Leu438Pro)
c.1493T>C (p.Leu498Pro)
c.1160T>C (p.Leu387Pro)
n.221+1259A>G
 ClinVar dbSNP gnomAD v4
7g.117559474T>GCA368984312CFTR,CFTR-AS1c.1403T>G (p.Leu468Arg)
c.*1117T>G (n.*1117T>G)
c.1220T>G (p.Leu407Arg)
c.1398T>G (p.Ser466=)
c.*1227T>G (n.*1227T>G)
c.977T>G (p.Leu326Arg)
c.1313T>G (p.Leu438Arg)
c.1493T>G (p.Leu498Arg)
c.1160T>G (p.Leu387Arg)
n.221+1259A>C
7g.117559474T=CA1737384086CFTR,CFTR-AS1c.1403T= (p.Leu468=)
c.*1117T= (n.*1117T=)
c.1220T= (p.Leu407=)
c.1398T= (p.Ser466=)
c.*1227T= (n.*1227T=)
c.977T= (p.Leu326=)
c.1313T= (p.Leu438=)
c.1493T= (p.Leu498=)
c.1160T= (p.Leu387=)
n.221+1259A=
7g.117559475A>CCA457228745CFTR,CFTR-AS1c.1404A>C (p.Leu468=)
c.*1118A>C (n.*1118A>C)
c.1221A>C (p.Leu407=)
c.1399A>C (p.Asn467His)
c.*1228A>C (n.*1228A>C)
c.978A>C (p.Leu326=)
c.1314A>C (p.Leu438=)
c.1494A>C (p.Leu498=)
c.1161A>C (p.Leu387=)
n.221+1258T>G
7g.117559475A>GCA457228747CFTR,CFTR-AS1c.1404A>G (p.Leu468=)
c.*1118A>G (n.*1118A>G)
c.1221A>G (p.Leu407=)
c.1399A>G (p.Asn467Asp)
c.*1228A>G (n.*1228A>G)
c.978A>G (p.Leu326=)
c.1314A>G (p.Leu438=)
c.1494A>G (p.Leu498=)
c.1161A>G (p.Leu387=)
n.221+1258T>C
7g.117559475A>TCA457228746CFTR,CFTR-AS1c.1404A>T (p.Leu468=)
c.*1118A>T (n.*1118A>T)
c.1221A>T (p.Leu407=)
c.1399A>T (p.Asn467Tyr)
c.*1228A>T (n.*1228A>T)
c.978A>T (p.Leu326=)
c.1314A>T (p.Leu438=)
c.1494A>T (p.Leu498=)
c.1161A>T (p.Leu387=)
n.221+1258T>A
7g.117559476A=CA1737384097CFTR,CFTR-AS1c.1405A= (p.Met469=)
c.*1119A= (n.*1119A=)
c.1222A= (p.Met408=)
c.1400A= (p.Asn467=)
c.*1229A= (n.*1229A=)
c.979A= (p.Met327=)
c.1315A= (p.Met439=)
c.1495A= (p.Met499=)
c.1162A= (p.Met388=)
n.221+1257T=
7g.117559476A>CCA368984313CFTR,CFTR-AS1c.1405A>C (p.Met469Leu)
c.*1119A>C (n.*1119A>C)
c.1222A>C (p.Met408Leu)
c.1400A>C (p.Asn467Thr)
c.*1229A>C (n.*1229A>C)
c.979A>C (p.Met327Leu)
c.1315A>C (p.Met439Leu)
c.1495A>C (p.Met499Leu)
c.1162A>C (p.Met388Leu)
n.221+1257T>G
7g.117559476A>GCA326475CFTR,CFTR-AS1c.1405A>G (p.Met469Val)
c.*1119A>G (n.*1119A>G)
c.1222A>G (p.Met408Val)
c.1400A>G (p.Asn467Ser)
c.*1229A>G (n.*1229A>G)
c.979A>G (p.Met327Val)
c.1315A>G (p.Met439Val)
c.1495A>G (p.Met499Val)
c.1162A>G (p.Met388Val)
n.221+1257T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117559476A>TCA368984314CFTR,CFTR-AS1c.1405A>T (p.Met469Leu)
c.*1119A>T (n.*1119A>T)
c.1222A>T (p.Met408Leu)
c.1400A>T (p.Asn467Ile)
c.*1229A>T (n.*1229A>T)
c.979A>T (p.Met327Leu)
c.1315A>T (p.Met439Leu)
c.1495A>T (p.Met499Leu)
c.1162A>T (p.Met388Leu)
n.221+1257T>A
 ClinVar
7g.117559477T>ACA368984315CFTR,CFTR-AS1c.1406T>A (p.Met469Lys)
c.*1120T>A (n.*1120T>A)
c.1223T>A (p.Met408Lys)
c.1401T>A (p.Asn467Lys)
c.*1230T>A (n.*1230T>A)
c.980T>A (p.Met327Lys)
c.1316T>A (p.Met439Lys)
c.1496T>A (p.Met499Lys)
c.1163T>A (p.Met388Lys)
n.221+1256A>T
7g.117559477T>CCA368984316CFTR,CFTR-AS1c.1406T>C (p.Met469Thr)
c.*1120T>C (n.*1120T>C)
c.1223T>C (p.Met408Thr)
c.1401T>C (p.Asn467=)
c.*1230T>C (n.*1230T>C)
c.980T>C (p.Met327Thr)
c.1316T>C (p.Met439Thr)
c.1496T>C (p.Met499Thr)
c.1163T>C (p.Met388Thr)
n.221+1256A>G
 gnomAD v4
7g.117559477T>GCA368984317CFTR,CFTR-AS1c.1406T>G (p.Met469Arg)
c.*1120T>G (n.*1120T>G)
c.1223T>G (p.Met408Arg)
c.1401T>G (p.Asn467Lys)
c.*1230T>G (n.*1230T>G)
c.980T>G (p.Met327Arg)
c.1316T>G (p.Met439Arg)
c.1496T>G (p.Met499Arg)
c.1163T>G (p.Met388Arg)
n.221+1256A>C
7g.117559477_117559487delinsTGGTGATTATGCA1737384101CFTR,CFTR-AS1c.1406_1416delinsTGGTGATTATG (p.Met469=)
c.*1120_*1130delinsTGGTGATTATG (n.*1120_*1130delinsTGGTGATTATG)
c.1223_1233delinsTGGTGATTATG (p.Met408=)
c.1401_1411delinsTGGTGATTATG (p.Asn467=)
c.*1230_*1240delinsTGGTGATTATG (n.*1230_*1240delinsTGGTGATTATG)
c.980_990delinsTGGTGATTATG (p.Met327=)
c.1316_1326delinsTGGTGATTATG (p.Met439=)
c.1496_1506delinsTGGTGATTATG (p.Met499=)
c.1163_1173delinsTGGTGATTATG (p.Met388=)
n.221+1246_221+1256delinsCATAATCACCA
7g.117559478G>ACA4451002CFTR,CFTR-AS1c.1407G>A (p.Met469Ile)
c.*1121G>A (n.*1121G>A)
c.1224G>A (p.Met408Ile)
c.1402G>A (p.Gly468Ser)
c.*1231G>A (n.*1231G>A)
c.981G>A (p.Met327Ile)
c.1317G>A (p.Met439Ile)
c.1497G>A (p.Met499Ile)
c.1164G>A (p.Met388Ile)
n.221+1255C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117559478G>CCA368984318CFTR,CFTR-AS1c.1407G>C (p.Met469Ile)
c.*1121G>C (n.*1121G>C)
c.1224G>C (p.Met408Ile)
c.1402G>C (p.Gly468Arg)
c.*1231G>C (n.*1231G>C)
c.981G>C (p.Met327Ile)
c.1317G>C (p.Met439Ile)
c.1497G>C (p.Met499Ile)
c.1164G>C (p.Met388Ile)
n.221+1255C>G
7g.117559478G=CA1737384114CFTR,CFTR-AS1c.1407G= (p.Met469=)
c.*1121G= (n.*1121G=)
c.1224G= (p.Met408=)
c.1402G= (p.Gly468=)
c.*1231G= (n.*1231G=)
c.981G= (p.Met327=)
c.1317G= (p.Met439=)
c.1497G= (p.Met499=)
c.1164G= (p.Met388=)
n.221+1255C=
7g.117559478G>TCA326477CFTR,CFTR-AS1c.1407G>T (p.Met469Ile)
c.*1121G>T (n.*1121G>T)
c.1224G>T (p.Met408Ile)
c.1402G>T (p.Gly468Cys)
c.*1231G>T (n.*1231G>T)
c.981G>T (p.Met327Ile)
c.1317G>T (p.Met439Ile)
c.1497G>T (p.Met499Ile)
c.1164G>T (p.Met388Ile)
n.221+1255C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117559479delCA2695208316CFTR,CFTR-AS1c.1408del (p.Val470Ter)
c.*1122del (n.*1122del)
c.1225del (p.Val409Ter)
c.1403del (p.Gly468ValfsTer?)
c.*1232del (n.*1232del)
c.982del (p.Val328Ter)
c.1318del (p.Val440Ter)
c.1498del (p.Val500Ter)
c.1165del (p.Val389Ter)
n.221+1255del
7g.117559480_117559489delCA326479CFTR,CFTR-AS1c.1409_1418del (p.Val470GlufsTer?)
c.*1123_*1132del (n.*1123_*1132del)
c.1226_1235del (p.Val409GlufsTer?)
c.1404_1413del (p.Asp469GlufsTer?)
c.*1233_*1242del (n.*1233_*1242del)
c.983_992del (p.Val328GlufsTer?)
c.1319_1328del (p.Val440GlufsTer?)
c.1499_1508del (p.Val500GlufsTer?)
c.1166_1175del (p.Val389GlufsTer?)
n.221+1246_221+1255del
 ClinVar dbSNP gnomAD v4
7g.117559479G>ACA132747CFTR,CFTR-AS1c.1408G>A (p.Val470Met)
c.*1122G>A (n.*1122G>A)
c.1225G>A (p.Val409Met)
c.1403G>A (p.Gly468Asp)
c.*1232G>A (n.*1232G>A)
c.982G>A (p.Val328Met)
c.1318G>A (p.Val440Met)
c.1498G>A (p.Val500Met)
c.1165G>A (p.Val389Met)
n.221+1254C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117559479G>CCA368984319CFTR,CFTR-AS1c.1408G>C (p.Val470Leu)
c.*1122G>C (n.*1122G>C)
c.1225G>C (p.Val409Leu)
c.1403G>C (p.Gly468Ala)
c.*1232G>C (n.*1232G>C)
c.982G>C (p.Val328Leu)
c.1318G>C (p.Val440Leu)
c.1498G>C (p.Val500Leu)
c.1165G>C (p.Val389Leu)
n.221+1254C>G
7g.117559479G=CA215118CFTR,CFTR-AS1c.1408G= (p.Val470=)
c.*1122G= (n.*1122G=)
c.1225G= (p.Val409=)
c.1403G= (p.Gly468=)
c.*1232G= (n.*1232G=)
c.982G= (p.Val328=)
c.1318G= (p.Val440=)
c.1498G= (p.Val500=)
c.1165G= (p.Val389=)
n.221+1254C=
7g.117559479G>TCA368984320CFTR,CFTR-AS1c.1408G>T (p.Val470Leu)
c.*1122G>T (n.*1122G>T)
c.1225G>T (p.Val409Leu)
c.1403G>T (p.Gly468Val)
c.*1232G>T (n.*1232G>T)
c.982G>T (p.Val328Leu)
c.1318G>T (p.Val440Leu)
c.1498G>T (p.Val500Leu)
c.1165G>T (p.Val389Leu)
n.221+1254C>A
7g.117559480T>ACA368984321CFTR,CFTR-AS1c.1409T>A (p.Val470Glu)
c.*1123T>A (n.*1123T>A)
c.1226T>A (p.Val409Glu)
c.1404T>A (p.Gly468=)
c.*1233T>A (n.*1233T>A)
c.983T>A (p.Val328Glu)
c.1319T>A (p.Val440Glu)
c.1499T>A (p.Val500Glu)
c.1166T>A (p.Val389Glu)
n.221+1253A>T
 ClinVar dbSNP
7g.117559480T>CCA368984322CFTR,CFTR-AS1c.1409T>C (p.Val470Ala)
c.*1123T>C (n.*1123T>C)
c.1226T>C (p.Val409Ala)
c.1404T>C (p.Gly468=)
c.*1233T>C (n.*1233T>C)
c.983T>C (p.Val328Ala)
c.1319T>C (p.Val440Ala)
c.1499T>C (p.Val500Ala)
c.1166T>C (p.Val389Ala)
n.221+1253A>G
7g.117559480T>GCA368984323CFTR,CFTR-AS1c.1409T>G (p.Val470Gly)
c.*1123T>G (n.*1123T>G)
c.1226T>G (p.Val409Gly)
c.1404T>G (p.Gly468=)
c.*1233T>G (n.*1233T>G)
c.983T>G (p.Val328Gly)
c.1319T>G (p.Val440Gly)
c.1499T>G (p.Val500Gly)
c.1166T>G (p.Val389Gly)
n.221+1253A>C
7g.117559480T=CA1737384123CFTR,CFTR-AS1c.1409T= (p.Val470=)
c.*1123T= (n.*1123T=)
c.1226T= (p.Val409=)
c.1404T= (p.Gly468=)
c.*1233T= (n.*1233T=)
c.983T= (p.Val328=)
c.1319T= (p.Val440=)
c.1499T= (p.Val500=)
c.1166T= (p.Val389=)
n.221+1253A=
7g.117559481delCA2695208317CFTR,CFTR-AS1c.1410del (p.Ile471LeufsTer?)
c.*1124del (n.*1124del)
c.1227del (p.Ile410LeufsTer?)
c.1405del (p.Asp469IlefsTer?)
c.*1234del (n.*1234del)
c.984del (p.Ile329LeufsTer?)
c.1320del (p.Ile441LeufsTer?)
c.1500del (p.Ile501LeufsTer?)
c.1167del (p.Ile390LeufsTer?)
n.221+1252del
7g.117559481G>ACA457228748CFTR,CFTR-AS1c.1410G>A (p.Val470=)
c.*1124G>A (n.*1124G>A)
c.1227G>A (p.Val409=)
c.1405G>A (p.Asp469Asn)
c.*1234G>A (n.*1234G>A)
c.984G>A (p.Val328=)
c.1320G>A (p.Val440=)
c.1500G>A (p.Val500=)
c.1167G>A (p.Val389=)
n.221+1252C>T
 COSMIC
7g.117559481G>CCA457228749CFTR,CFTR-AS1c.1410G>C (p.Val470=)
c.*1124G>C (n.*1124G>C)
c.1227G>C (p.Val409=)
c.1405G>C (p.Asp469His)
c.*1234G>C (n.*1234G>C)
c.984G>C (p.Val328=)
c.1320G>C (p.Val440=)
c.1500G>C (p.Val500=)
c.1167G>C (p.Val389=)
n.221+1252C>G
7g.117559481G>TCA457228750CFTR,CFTR-AS1c.1410G>T (p.Val470=)
c.*1124G>T (n.*1124G>T)
c.1227G>T (p.Val409=)
c.1405G>T (p.Asp469Tyr)
c.*1234G>T (n.*1234G>T)
c.984G>T (p.Val328=)
c.1320G>T (p.Val440=)
c.1500G>T (p.Val500=)
c.1167G>T (p.Val389=)
n.221+1252C>A
7g.117559482A=CA1737384127CFTR,CFTR-AS1c.1411A= (p.Ile471=)
c.*1125A= (n.*1125A=)
c.1228A= (p.Ile410=)
c.1406A= (p.Asp469=)
c.*1235A= (n.*1235A=)
c.985A= (p.Ile329=)
c.1321A= (p.Ile441=)
c.1501A= (p.Ile501=)
c.1168A= (p.Ile390=)
n.221+1251T=
7g.117559482A>CCA368984324CFTR,CFTR-AS1c.1411A>C (p.Ile471Leu)
c.*1125A>C (n.*1125A>C)
c.1228A>C (p.Ile410Leu)
c.1406A>C (p.Asp469Ala)
c.*1235A>C (n.*1235A>C)
c.985A>C (p.Ile329Leu)
c.1321A>C (p.Ile441Leu)
c.1501A>C (p.Ile501Leu)
c.1168A>C (p.Ile390Leu)
n.221+1251T>G
7g.117559482A>GCA368984325CFTR,CFTR-AS1c.1411A>G (p.Ile471Val)
c.*1125A>G (n.*1125A>G)
c.1228A>G (p.Ile410Val)
c.1406A>G (p.Asp469Gly)
c.*1235A>G (n.*1235A>G)
c.985A>G (p.Ile329Val)
c.1321A>G (p.Ile441Val)
c.1501A>G (p.Ile501Val)
c.1168A>G (p.Ile390Val)
n.221+1251T>C
 dbSNP gnomAD v2 gnomAD v4
7g.117559482A>TCA368984326CFTR,CFTR-AS1c.1411A>T (p.Ile471Phe)
c.*1125A>T (n.*1125A>T)
c.1228A>T (p.Ile410Phe)
c.1406A>T (p.Asp469Val)
c.*1235A>T (n.*1235A>T)
c.985A>T (p.Ile329Phe)
c.1321A>T (p.Ile441Phe)
c.1501A>T (p.Ile501Phe)
c.1168A>T (p.Ile390Phe)
n.221+1251T>A
 ClinVar gnomAD v4
7g.117559483T>ACA368984329CFTR,CFTR-AS1c.1412T>A (p.Ile471Asn)
c.*1126T>A (n.*1126T>A)
c.1229T>A (p.Ile410Asn)
c.1407T>A (p.Asp469Glu)
c.*1236T>A (n.*1236T>A)
c.986T>A (p.Ile329Asn)
c.1322T>A (p.Ile441Asn)
c.1502T>A (p.Ile501Asn)
c.1169T>A (p.Ile390Asn)
n.221+1250A>T
7g.117559483T>CCA368984328CFTR,CFTR-AS1c.1412T>C (p.Ile471Thr)
c.*1126T>C (n.*1126T>C)
c.1229T>C (p.Ile410Thr)
c.1407T>C (p.Asp469=)
c.*1236T>C (n.*1236T>C)
c.986T>C (p.Ile329Thr)
c.1322T>C (p.Ile441Thr)
c.1502T>C (p.Ile501Thr)
c.1169T>C (p.Ile390Thr)
n.221+1250A>G
7g.117559483T>GCA368984327CFTR,CFTR-AS1c.1412T>G (p.Ile471Ser)
c.*1126T>G (n.*1126T>G)
c.1229T>G (p.Ile410Ser)
c.1407T>G (p.Asp469Glu)
c.*1236T>G (n.*1236T>G)
c.986T>G (p.Ile329Ser)
c.1322T>G (p.Ile441Ser)
c.1502T>G (p.Ile501Ser)
c.1169T>G (p.Ile390Ser)
n.221+1250A>C

Number of alleles fetched