Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.117559529A=CA1737384314CFTR,CFTR-AS1c.1458A= (p.Gly486=)
c.*1172A= (n.*1172A=)
c.1275A= (p.Gly425=)
c.*16A= (n.*16A=)
c.*1282A= (n.*1282A=)
c.1032A= (p.Gly344=)
c.1368A= (p.Gly456=)
c.1548A= (p.Gly516=)
c.1215A= (p.Gly405=)
n.221+1204T=
7g.117559529A>CCA457228776CFTR,CFTR-AS1c.1458A>C (p.Gly486=)
c.*1172A>C (n.*1172A>C)
c.1275A>C (p.Gly425=)
c.*16A>C (n.*16A>C)
c.*1282A>C (n.*1282A>C)
c.1032A>C (p.Gly344=)
c.1368A>C (p.Gly456=)
c.1548A>C (p.Gly516=)
c.1215A>C (p.Gly405=)
n.221+1204T>G
7g.117559529A>GCA164967698CFTR,CFTR-AS1c.1458A>G (p.Gly486=)
c.*1172A>G (n.*1172A>G)
c.1275A>G (p.Gly425=)
c.*16A>G (n.*16A>G)
c.*1282A>G (n.*1282A>G)
c.1032A>G (p.Gly344=)
c.1368A>G (p.Gly456=)
c.1548A>G (p.Gly516=)
c.1215A>G (p.Gly405=)
n.221+1204T>C
 ClinVar dbSNP
7g.117559529A>TCA457228777CFTR,CFTR-AS1c.1458A>T (p.Gly486=)
c.*1172A>T (n.*1172A>T)
c.1275A>T (p.Gly425=)
c.*16A>T (n.*16A>T)
c.*1282A>T (n.*1282A>T)
c.1032A>T (p.Gly344=)
c.1368A>T (p.Gly456=)
c.1548A>T (p.Gly516=)
c.1215A>T (p.Gly405=)
n.221+1204T>A
7g.117559530A>CCA457228778CFTR,CFTR-AS1c.1459A>C (p.Arg487=)
c.*1173A>C (n.*1173A>C)
c.1276A>C (p.Arg426=)
c.*17A>C (n.*17A>C)
c.*1283A>C (n.*1283A>C)
c.1033A>C (p.Arg345=)
c.1369A>C (p.Arg457=)
c.1549A>C (p.Arg517=)
c.1216A>C (p.Arg406=)
n.221+1203T>G
7g.117559530A>GCA368984483CFTR,CFTR-AS1c.1459A>G (p.Arg487Gly)
c.*1173A>G (n.*1173A>G)
c.1276A>G (p.Arg426Gly)
c.*17A>G (n.*17A>G)
c.*1283A>G (n.*1283A>G)
c.1033A>G (p.Arg345Gly)
c.1369A>G (p.Arg457Gly)
c.1549A>G (p.Arg517Gly)
c.1216A>G (p.Arg406Gly)
n.221+1203T>C
7g.117559530A>TCA368984484CFTR,CFTR-AS1c.1459A>T (p.Arg487Ter)
c.*1173A>T (n.*1173A>T)
c.1276A>T (p.Arg426Ter)
c.*17A>T (n.*17A>T)
c.*1283A>T (n.*1283A>T)
c.1033A>T (p.Arg345Ter)
c.1369A>T (p.Arg457Ter)
c.1549A>T (p.Arg517Ter)
c.1216A>T (p.Arg406Ter)
n.221+1203T>A
7g.117559531G>ACA4451007CFTR,CFTR-AS1c.1460G>A (p.Arg487Lys)
c.*1174G>A (n.*1174G>A)
c.1277G>A (p.Arg426Lys)
c.*18G>A (n.*18G>A)
c.*1284G>A (n.*1284G>A)
c.1034G>A (p.Arg345Lys)
c.1370G>A (p.Arg457Lys)
c.1550G>A (p.Arg517Lys)
c.1217G>A (p.Arg406Lys)
n.221+1202C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117559531G>CCA368984487CFTR,CFTR-AS1c.1460G>C (p.Arg487Thr)
c.*1174G>C (n.*1174G>C)
c.1277G>C (p.Arg426Thr)
c.*18G>C (n.*18G>C)
c.*1284G>C (n.*1284G>C)
c.1034G>C (p.Arg345Thr)
c.1370G>C (p.Arg457Thr)
c.1550G>C (p.Arg517Thr)
c.1217G>C (p.Arg406Thr)
n.221+1202C>G
7g.117559531G=CA1737384319CFTR,CFTR-AS1c.1460G= (p.Arg487=)
c.*1174G= (n.*1174G=)
c.1277G= (p.Arg426=)
c.*18G= (n.*18G=)
c.*1284G= (n.*1284G=)
c.1034G= (p.Arg345=)
c.1370G= (p.Arg457=)
c.1550G= (p.Arg517=)
c.1217G= (p.Arg406=)
n.221+1202C=
7g.117559531G>TCA368984488CFTR,CFTR-AS1c.1460G>T (p.Arg487Ile)
c.*1174G>T (n.*1174G>T)
c.1277G>T (p.Arg426Ile)
c.*18G>T (n.*18G>T)
c.*1284G>T (n.*1284G>T)
c.1034G>T (p.Arg345Ile)
c.1370G>T (p.Arg457Ile)
c.1550G>T (p.Arg517Ile)
c.1217G>T (p.Arg406Ile)
n.221+1202C>A
 COSMIC
7g.117559532A>CCA368984490CFTR,CFTR-AS1c.1461A>C (p.Arg487Ser)
c.*1175A>C (n.*1175A>C)
c.1278A>C (p.Arg426Ser)
c.*19A>C (n.*19A>C)
c.*1285A>C (n.*1285A>C)
c.1035A>C (p.Arg345Ser)
c.1371A>C (p.Arg457Ser)
c.1551A>C (p.Arg517Ser)
c.1218A>C (p.Arg406Ser)
n.221+1201T>G
7g.117559532A>GCA457228779CFTR,CFTR-AS1c.1461A>G (p.Arg487=)
c.*1175A>G (n.*1175A>G)
c.1278A>G (p.Arg426=)
c.*19A>G (n.*19A>G)
c.*1285A>G (n.*1285A>G)
c.1035A>G (p.Arg345=)
c.1371A>G (p.Arg457=)
c.1551A>G (p.Arg517=)
c.1218A>G (p.Arg406=)
n.221+1201T>C
 gnomAD v4
7g.117559532A>TCA368984492CFTR,CFTR-AS1c.1461A>T (p.Arg487Ser)
c.*1175A>T (n.*1175A>T)
c.1278A>T (p.Arg426Ser)
c.*19A>T (n.*19A>T)
c.*1285A>T (n.*1285A>T)
c.1035A>T (p.Arg345Ser)
c.1371A>T (p.Arg457Ser)
c.1551A>T (p.Arg517Ser)
c.1218A>T (p.Arg406Ser)
n.221+1201T>A
7g.117559533A>CCA368984493CFTR,CFTR-AS1c.1462A>C (p.Ile488Leu)
c.*1176A>C (n.*1176A>C)
c.1279A>C (p.Ile427Leu)
c.*20A>C (n.*20A>C)
c.*1286A>C (n.*1286A>C)
c.1036A>C (p.Ile346Leu)
c.1372A>C (p.Ile458Leu)
c.1552A>C (p.Ile518Leu)
c.1219A>C (p.Ile407Leu)
n.221+1200T>G
7g.117559533A>GCA368984494CFTR,CFTR-AS1c.1462A>G (p.Ile488Val)
c.*1176A>G (n.*1176A>G)
c.1279A>G (p.Ile427Val)
c.*20A>G (n.*20A>G)
c.*1286A>G (n.*1286A>G)
c.1036A>G (p.Ile346Val)
c.1372A>G (p.Ile458Val)
c.1552A>G (p.Ile518Val)
c.1219A>G (p.Ile407Val)
n.221+1200T>C
7g.117559533A>TCA368984496CFTR,CFTR-AS1c.1462A>T (p.Ile488Phe)
c.*1176A>T (n.*1176A>T)
c.1279A>T (p.Ile427Phe)
c.*20A>T (n.*20A>T)
c.*1286A>T (n.*1286A>T)
c.1036A>T (p.Ile346Phe)
c.1372A>T (p.Ile458Phe)
c.1552A>T (p.Ile518Phe)
c.1219A>T (p.Ile407Phe)
n.221+1200T>A
7g.117559536_117559540delCA2573141542CFTR,CFTR-AS1c.1465_1469del (p.Ser489LeufsTer13)
c.*1179_*1183del (n.*1179_*1183del)
c.1282_1286del (p.Ser428LeufsTer13)
c.*23_*27del (n.*23_*27del)
c.*1289_*1293del (n.*1289_*1293del)
c.1039_1043del (p.Ser347LeufsTer13)
c.1375_1379del (p.Ser459LeufsTer13)
c.1555_1559del (p.Ser519LeufsTer13)
c.1222_1226del (p.Ser408LeufsTer13)
n.221+1196_221+1200del
 ClinVar dbSNP
7g.117559534T>ACA368984499CFTR,CFTR-AS1c.1463T>A (p.Ile488Asn)
c.*1177T>A (n.*1177T>A)
c.1280T>A (p.Ile427Asn)
c.*21T>A (n.*21T>A)
c.*1287T>A (n.*1287T>A)
c.1037T>A (p.Ile346Asn)
c.1373T>A (p.Ile458Asn)
c.1553T>A (p.Ile518Asn)
c.1220T>A (p.Ile407Asn)
n.221+1199A>T
7g.117559534T>CCA368984501CFTR,CFTR-AS1c.1463T>C (p.Ile488Thr)
c.*1177T>C (n.*1177T>C)
c.1280T>C (p.Ile427Thr)
c.*21T>C (n.*21T>C)
c.*1287T>C (n.*1287T>C)
c.1037T>C (p.Ile346Thr)
c.1373T>C (p.Ile458Thr)
c.1553T>C (p.Ile518Thr)
c.1220T>C (p.Ile407Thr)
n.221+1199A>G
7g.117559534T>GCA368984498CFTR,CFTR-AS1c.1463T>G (p.Ile488Ser)
c.*1177T>G (n.*1177T>G)
c.1280T>G (p.Ile427Ser)
c.*21T>G (n.*21T>G)
c.*1287T>G (n.*1287T>G)
c.1037T>G (p.Ile346Ser)
c.1373T>G (p.Ile458Ser)
c.1553T>G (p.Ile518Ser)
c.1220T>G (p.Ile407Ser)
n.221+1199A>C
7g.117559535_117559547delCA2573141543CFTR,CFTR-AS1c.1464_1476del (p.Cys491ProfsTer?)
c.*1178_*1190del (n.*1178_*1190del)
c.1281_1293del (p.Cys430ProfsTer?)
c.*22_*34del (n.*22_*34del)
c.*1288_*1300del (n.*1288_*1300del)
c.1038_1050del (p.Cys349ProfsTer?)
c.1374_1386del (p.Cys461ProfsTer?)
c.1554_1566del (p.Cys521ProfsTer?)
c.1221_1233del (p.Cys410ProfsTer?)
n.221+1187_221+1199del
 ClinVar dbSNP
7g.117559535T>ACA457228781CFTR,CFTR-AS1c.1464T>A (p.Ile488=)
c.*1178T>A (n.*1178T>A)
c.1281T>A (p.Ile427=)
c.*22T>A (n.*22T>A)
c.*1288T>A (n.*1288T>A)
c.1038T>A (p.Ile346=)
c.1374T>A (p.Ile458=)
c.1554T>A (p.Ile518=)
c.1221T>A (p.Ile407=)
n.221+1198A>T
7g.117559535T>CCA457228780CFTR,CFTR-AS1c.1464T>C (p.Ile488=)
c.*1178T>C (n.*1178T>C)
c.1281T>C (p.Ile427=)
c.*22T>C (n.*22T>C)
c.*1288T>C (n.*1288T>C)
c.1038T>C (p.Ile346=)
c.1374T>C (p.Ile458=)
c.1554T>C (p.Ile518=)
c.1221T>C (p.Ile407=)
n.221+1198A>G
 ClinVar dbSNP gnomAD v4
7g.117559535T>GCA368984502CFTR,CFTR-AS1c.1464T>G (p.Ile488Met)
c.*1178T>G (n.*1178T>G)
c.1281T>G (p.Ile427Met)
c.*22T>G (n.*22T>G)
c.*1288T>G (n.*1288T>G)
c.1038T>G (p.Ile346Met)
c.1374T>G (p.Ile458Met)
c.1554T>G (p.Ile518Met)
c.1221T>G (p.Ile407Met)
n.221+1198A>C
7g.117559535T=CA1737384326CFTR,CFTR-AS1c.1464T= (p.Ile488=)
c.*1178T= (n.*1178T=)
c.1281T= (p.Ile427=)
c.*22T= (n.*22T=)
c.*1288T= (n.*1288T=)
c.1038T= (p.Ile346=)
c.1374T= (p.Ile458=)
c.1554T= (p.Ile518=)
c.1221T= (p.Ile407=)
n.221+1198A=
7g.117559536T>ACA368984504CFTR,CFTR-AS1c.1465T>A (p.Ser489Thr)
c.*1179T>A (n.*1179T>A)
c.1282T>A (p.Ser428Thr)
c.*23T>A (n.*23T>A)
c.*1289T>A (n.*1289T>A)
c.1039T>A (p.Ser347Thr)
c.1375T>A (p.Ser459Thr)
c.1555T>A (p.Ser519Thr)
c.1222T>A (p.Ser408Thr)
n.221+1197A>T
7g.117559536T>CCA368984505CFTR,CFTR-AS1c.1465T>C (p.Ser489Pro)
c.*1179T>C (n.*1179T>C)
c.1282T>C (p.Ser428Pro)
c.*23T>C (n.*23T>C)
c.*1289T>C (n.*1289T>C)
c.1039T>C (p.Ser347Pro)
c.1375T>C (p.Ser459Pro)
c.1555T>C (p.Ser519Pro)
c.1222T>C (p.Ser408Pro)
n.221+1197A>G
7g.117559536T>GCA368984507CFTR,CFTR-AS1c.1465T>G (p.Ser489Ala)
c.*1179T>G (n.*1179T>G)
c.1282T>G (p.Ser428Ala)
c.*23T>G (n.*23T>G)
c.*1289T>G (n.*1289T>G)
c.1039T>G (p.Ser347Ala)
c.1375T>G (p.Ser459Ala)
c.1555T>G (p.Ser519Ala)
c.1222T>G (p.Ser408Ala)
n.221+1197A>C
7g.117559537C>ACA328087CFTR,CFTR-AS1c.1466C>A (p.Ser489Ter)
c.*1180C>A (n.*1180C>A)
c.1283C>A (p.Ser428Ter)
c.*24C>A (n.*24C>A)
c.*1290C>A (n.*1290C>A)
c.1040C>A (p.Ser347Ter)
c.1376C>A (p.Ser459Ter)
c.1556C>A (p.Ser519Ter)
c.1223C>A (p.Ser408Ter)
n.221+1196G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117559537C=CA1737384340CFTR,CFTR-AS1c.1466C= (p.Ser489=)
c.*1180C= (n.*1180C=)
c.1283C= (p.Ser428=)
c.*24C= (n.*24C=)
c.*1290C= (n.*1290C=)
c.1040C= (p.Ser347=)
c.1376C= (p.Ser459=)
c.1556C= (p.Ser519=)
c.1223C= (p.Ser408=)
n.221+1196G=
7g.117559537C>GCA368984509CFTR,CFTR-AS1c.1466C>G (p.Ser489Ter)
c.*1180C>G (n.*1180C>G)
c.1283C>G (p.Ser428Ter)
c.*24C>G (n.*24C>G)
c.*1290C>G (n.*1290C>G)
c.1040C>G (p.Ser347Ter)
c.1376C>G (p.Ser459Ter)
c.1556C>G (p.Ser519Ter)
c.1223C>G (p.Ser408Ter)
n.221+1196G>C
 dbSNP gnomAD v3 gnomAD v4
7g.117559537C>TCA164967713CFTR,CFTR-AS1c.1466C>T (p.Ser489Leu)
c.*1180C>T (n.*1180C>T)
c.1283C>T (p.Ser428Leu)
c.*24C>T (n.*24C>T)
c.*1290C>T (n.*1290C>T)
c.1040C>T (p.Ser347Leu)
c.1376C>T (p.Ser459Leu)
c.1556C>T (p.Ser519Leu)
c.1223C>T (p.Ser408Leu)
n.221+1196G>A
 dbSNP COSMIC
7g.117559538A=CA1737384347CFTR,CFTR-AS1c.1467A= (p.Ser489=)
c.*1181A= (n.*1181A=)
c.1284A= (p.Ser428=)
c.*25A= (n.*25A=)
c.*1291A= (n.*1291A=)
c.1041A= (p.Ser347=)
c.1377A= (p.Ser459=)
c.1557A= (p.Ser519=)
c.1224A= (p.Ser408=)
n.221+1195T=
7g.117559538A>CCA457228797CFTR,CFTR-AS1c.1467A>C (p.Ser489=)
c.*1181A>C (n.*1181A>C)
c.1284A>C (p.Ser428=)
c.*25A>C (n.*25A>C)
c.*1291A>C (n.*1291A>C)
c.1041A>C (p.Ser347=)
c.1377A>C (p.Ser459=)
c.1557A>C (p.Ser519=)
c.1224A>C (p.Ser408=)
n.221+1195T>G
 gnomAD v4
7g.117559538A>GCA457228799CFTR,CFTR-AS1c.1467A>G (p.Ser489=)
c.*1181A>G (n.*1181A>G)
c.1284A>G (p.Ser428=)
c.*25A>G (n.*25A>G)
c.*1291A>G (n.*1291A>G)
c.1041A>G (p.Ser347=)
c.1377A>G (p.Ser459=)
c.1557A>G (p.Ser519=)
c.1224A>G (p.Ser408=)
n.221+1195T>C
 ClinVar dbSNP
7g.117559538A>TCA457228798CFTR,CFTR-AS1c.1467A>T (p.Ser489=)
c.*1181A>T (n.*1181A>T)
c.1284A>T (p.Ser428=)
c.*25A>T (n.*25A>T)
c.*1291A>T (n.*1291A>T)
c.1041A>T (p.Ser347=)
c.1377A>T (p.Ser459=)
c.1557A>T (p.Ser519=)
c.1224A>T (p.Ser408=)
n.221+1195T>A
7g.117559538_117559539delinsATCA1737384344CFTR,CFTR-AS1c.1467_1468delinsAT (p.Ser489=)
c.*1181_*1182delinsAT (n.*1181_*1182delinsAT)
c.1284_1285delinsAT (p.Ser428=)
c.*25_*26delinsAT (n.*25_*26delinsAT)
c.*1291_*1292delinsAT (n.*1291_*1292delinsAT)
c.1041_1042delinsAT (p.Ser347=)
c.1377_1378delinsAT (p.Ser459=)
c.1557_1558delinsAT (p.Ser519=)
c.1224_1225delinsAT (p.Ser408=)
n.221+1194_221+1195delinsAT
7g.117559539T>ACA368984511CFTR,CFTR-AS1c.1468T>A (p.Phe490Ile)
c.*1182T>A (n.*1182T>A)
c.1285T>A (p.Phe429Ile)
c.*26T>A (n.*26T>A)
c.*1292T>A (n.*1292T>A)
c.1042T>A (p.Phe348Ile)
c.1378T>A (p.Phe460Ile)
c.1558T>A (p.Phe520Ile)
c.1225T>A (p.Phe409Ile)
n.221+1194A>T
7g.117559539T>CCA368984512CFTR,CFTR-AS1c.1468T>C (p.Phe490Leu)
c.*1182T>C (n.*1182T>C)
c.1285T>C (p.Phe429Leu)
c.*26T>C (n.*26T>C)
c.*1292T>C (n.*1292T>C)
c.1042T>C (p.Phe348Leu)
c.1378T>C (p.Phe460Leu)
c.1558T>C (p.Phe520Leu)
c.1225T>C (p.Phe409Leu)
n.221+1194A>G
7g.117559539T>GCA368984513CFTR,CFTR-AS1c.1468T>G (p.Phe490Val)
c.*1182T>G (n.*1182T>G)
c.1285T>G (p.Phe429Val)
c.*26T>G (n.*26T>G)
c.*1292T>G (n.*1292T>G)
c.1042T>G (p.Phe348Val)
c.1378T>G (p.Phe460Val)
c.1558T>G (p.Phe520Val)
c.1225T>G (p.Phe409Val)
n.221+1194A>C
7g.117559540delCA4451008CFTR,CFTR-AS1c.1469del (p.Phe490SerfsTer?)
c.*1183del (n.*1183del)
c.1286del (p.Phe429SerfsTer?)
c.*27del (n.*27del)
c.*1293del (n.*1293del)
c.1043del (p.Phe348SerfsTer?)
c.1379del (p.Phe460SerfsTer?)
c.1559del (p.Phe520SerfsTer?)
c.1226del (p.Phe409SerfsTer?)
n.221+1194del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117559539_117559541delinsTTCCA1737384359CFTR,CFTR-AS1c.1468_1470delinsTTC (p.Phe490=)
c.*1182_*1184delinsTTC (n.*1182_*1184delinsTTC)
c.1285_1287delinsTTC (p.Phe429=)
c.*26_*28delinsTTC (n.*26_*28delinsTTC)
c.*1292_*1294delinsTTC (n.*1292_*1294delinsTTC)
c.1042_1044delinsTTC (p.Phe348=)
c.1378_1380delinsTTC (p.Phe460=)
c.1558_1560delinsTTC (p.Phe520=)
c.1225_1227delinsTTC (p.Phe409=)
n.221+1192_221+1194delinsGAA
7g.117559539_117559542delCA2695199619CFTR,CFTR-AS1c.1468_1471del (p.Phe490ValfsTer?)
c.*1182_*1185del (n.*1182_*1185del)
c.1285_1288del (p.Phe429ValfsTer?)
c.*26_*29del (n.*26_*29del)
c.*1292_*1295del (n.*1292_*1295del)
c.1042_1045del (p.Phe348ValfsTer?)
c.1378_1381del (p.Phe460ValfsTer?)
c.1558_1561del (p.Phe520ValfsTer?)
c.1225_1228del (p.Phe409ValfsTer?)
n.221+1191_221+1194del
 ClinVar
7g.117559540T>ACA368984517CFTR,CFTR-AS1c.1469T>A (p.Phe490Tyr)
c.*1183T>A (n.*1183T>A)
c.1286T>A (p.Phe429Tyr)
c.*27T>A (n.*27T>A)
c.*1293T>A (n.*1293T>A)
c.1043T>A (p.Phe348Tyr)
c.1379T>A (p.Phe460Tyr)
c.1559T>A (p.Phe520Tyr)
c.1226T>A (p.Phe409Tyr)
n.221+1193A>T
7g.117559540T>CCA368984516CFTR,CFTR-AS1c.1469T>C (p.Phe490Ser)
c.*1183T>C (n.*1183T>C)
c.1286T>C (p.Phe429Ser)
c.*27T>C (n.*27T>C)
c.*1293T>C (n.*1293T>C)
c.1043T>C (p.Phe348Ser)
c.1379T>C (p.Phe460Ser)
c.1559T>C (p.Phe520Ser)
c.1226T>C (p.Phe409Ser)
n.221+1193A>G
7g.117559540T>GCA4451009CFTR,CFTR-AS1c.1469T>G (p.Phe490Cys)
c.*1183T>G (n.*1183T>G)
c.1286T>G (p.Phe429Cys)
c.*27T>G (n.*27T>G)
c.*1293T>G (n.*1293T>G)
c.1043T>G (p.Phe348Cys)
c.1379T>G (p.Phe460Cys)
c.1559T>G (p.Phe520Cys)
c.1226T>G (p.Phe409Cys)
n.221+1193A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117559540T=CA1737384367CFTR,CFTR-AS1c.1469T= (p.Phe490=)
c.*1183T= (n.*1183T=)
c.1286T= (p.Phe429=)
c.*27T= (n.*27T=)
c.*1293T= (n.*1293T=)
c.1043T= (p.Phe348=)
c.1379T= (p.Phe460=)
c.1559T= (p.Phe520=)
c.1226T= (p.Phe409=)
n.221+1193A=
7g.117559541_117559542delCA326493CFTR,CFTR-AS1c.1470_1471del (p.Phe490LeufsTer13)
c.*1184_*1185del (n.*1184_*1185del)
c.1287_1288del (p.Phe429LeufsTer13)
c.*28_*29del (n.*28_*29del)
c.*1294_*1295del (n.*1294_*1295del)
c.1044_1045del (p.Phe348LeufsTer13)
c.1380_1381del (p.Phe460LeufsTer13)
c.1560_1561del (p.Phe520LeufsTer13)
c.1227_1228del (p.Phe409LeufsTer13)
n.221+1192_221+1193del
 dbSNP gnomAD v4
7g.117559541C>ACA368984519CFTR,CFTR-AS1c.1470C>A (p.Phe490Leu)
c.*1184C>A (n.*1184C>A)
c.1287C>A (p.Phe429Leu)
c.*28C>A (n.*28C>A)
c.*1294C>A (n.*1294C>A)
c.1044C>A (p.Phe348Leu)
c.1380C>A (p.Phe460Leu)
c.1560C>A (p.Phe520Leu)
c.1227C>A (p.Phe409Leu)
n.221+1192G>T

Number of alleles fetched