Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.117559528G>A | CA368984481 | CFTR,CFTR-AS1 | c.1457G>A (p.Gly486Glu) c.*1171G>A (n.*1171G>A) c.1274G>A (p.Gly425Glu) c.*15G>A (n.*15G>A) c.*1281G>A (n.*1281G>A) c.1031G>A (p.Gly344Glu) c.1367G>A (p.Gly456Glu) c.1547G>A (p.Gly516Glu) c.1214G>A (p.Gly405Glu) n.221+1205C>T | |
7 | g.117559528G>C | CA368984478 | CFTR,CFTR-AS1 | c.1457G>C (p.Gly486Ala) c.*1171G>C (n.*1171G>C) c.1274G>C (p.Gly425Ala) c.*15G>C (n.*15G>C) c.*1281G>C (n.*1281G>C) c.1031G>C (p.Gly344Ala) c.1367G>C (p.Gly456Ala) c.1547G>C (p.Gly516Ala) c.1214G>C (p.Gly405Ala) n.221+1205C>G | |
7 | g.117559528G>T | CA368984480 | CFTR,CFTR-AS1 | c.1457G>T (p.Gly486Val) c.*1171G>T (n.*1171G>T) c.1274G>T (p.Gly425Val) c.*15G>T (n.*15G>T) c.*1281G>T (n.*1281G>T) c.1031G>T (p.Gly344Val) c.1367G>T (p.Gly456Val) c.1547G>T (p.Gly516Val) c.1214G>T (p.Gly405Val) n.221+1205C>A | gnomAD v4 |
7 | g.117559529A= | CA1737384314 | CFTR,CFTR-AS1 | c.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= | |
7 | g.117559529A>C | CA457228776 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559529A>G | CA164967698 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559529A>T | CA457228777 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559530A>C | CA457228778 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559530A>G | CA368984483 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559530A>T | CA368984484 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559531G>A | CA4451007 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559531G>C | CA368984487 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559531G= | CA1737384319 | CFTR,CFTR-AS1 | c.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= | |
7 | g.117559531G>T | CA368984488 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559532A>C | CA368984490 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559532A>G | CA457228779 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559532A>T | CA368984492 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559533A>C | CA368984493 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559533A>G | CA368984494 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559533A>T | CA368984496 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559536_117559540del | CA2573141542 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559534T>A | CA368984499 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559534T>C | CA368984501 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559534T>G | CA368984498 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559535_117559547del | CA2573141543 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559535T>A | CA457228781 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559535T>C | CA457228780 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559535T>G | CA368984502 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559535T= | CA1737384326 | CFTR,CFTR-AS1 | c.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= | |
7 | g.117559536T>A | CA368984504 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559536T>C | CA368984505 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559536T>G | CA368984507 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559537C>A | CA328087 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559537C= | CA1737384340 | CFTR,CFTR-AS1 | c.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= | |
7 | g.117559537C>G | CA368984509 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559537C>T | CA164967713 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559538A= | CA1737384347 | CFTR,CFTR-AS1 | c.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= | |
7 | g.117559538A>C | CA457228797 | CFTR,CFTR-AS1 | c.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 | ClinVar gnomAD v4 |
7 | g.117559538A>G | CA457228799 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559538A>T | CA457228798 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559538_117559539delinsAT | CA1737384344 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559539T>A | CA368984511 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559539T>C | CA368984512 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559539T>G | CA368984513 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559540del | CA4451008 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559539_117559541delinsTTC | CA1737384359 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559539_117559542del | CA2695199619 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559540T>A | CA368984517 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559540T>C | CA368984516 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559540T>G | CA4451009 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559540T= | CA1737384367 | CFTR,CFTR-AS1 | c.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= | |
7 | g.117559541_117559542del | CA326493 | CFTR,CFTR-AS1 | c.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 |
7 | g.117559541C>A | CA368984519 | CFTR,CFTR-AS1 | c.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 | |
7 | g.117559541C= | CA1737384375 | CFTR,CFTR-AS1 | c.1470C= (p.Phe490=) c.*1184C= (n.*1184C=) c.1287C= (p.Phe429=) c.*28C= (n.*28C=) c.*1294C= (n.*1294C=) c.1044C= (p.Phe348=) c.1380C= (p.Phe460=) c.1560C= (p.Phe520=) c.1227C= (p.Phe409=) n.221+1192G= | |
7 | g.117559541C>G | CA368984520 | CFTR,CFTR-AS1 | c.1470C>G (p.Phe490Leu) c.*1184C>G (n.*1184C>G) c.1287C>G (p.Phe429Leu) c.*28C>G (n.*28C>G) c.*1294C>G (n.*1294C>G) c.1044C>G (p.Phe348Leu) c.1380C>G (p.Phe460Leu) c.1560C>G (p.Phe520Leu) c.1227C>G (p.Phe409Leu) n.221+1192G>C | |
7 | g.117559541C>T | CA457228801 | CFTR,CFTR-AS1 | c.1470C>T (p.Phe490=) c.*1184C>T (n.*1184C>T) c.1287C>T (p.Phe429=) c.*28C>T (n.*28C>T) c.*1294C>T (n.*1294C>T) c.1044C>T (p.Phe348=) c.1380C>T (p.Phe460=) c.1560C>T (p.Phe520=) c.1227C>T (p.Phe409=) n.221+1192G>A | ClinVar dbSNP gnomAD v4 COSMIC |
7 | g.117559542T>A | CA368984522 | CFTR,CFTR-AS1 | c.1471T>A (p.Cys491Ser) c.*1185T>A (n.*1185T>A) c.1288T>A (p.Cys430Ser) c.*29T>A (n.*29T>A) c.*1295T>A (n.*1295T>A) c.1045T>A (p.Cys349Ser) c.1381T>A (p.Cys461Ser) c.1561T>A (p.Cys521Ser) c.1228T>A (p.Cys410Ser) n.221+1191A>T | |
7 | g.117559542T>C | CA326494 | CFTR,CFTR-AS1 | c.1471T>C (p.Cys491Arg) c.*1185T>C (n.*1185T>C) c.1288T>C (p.Cys430Arg) c.*29T>C (n.*29T>C) c.*1295T>C (n.*1295T>C) c.1045T>C (p.Cys349Arg) c.1381T>C (p.Cys461Arg) c.1561T>C (p.Cys521Arg) c.1228T>C (p.Cys410Arg) n.221+1191A>G | ClinVar dbSNP |
7 | g.117559542T>G | CA368984524 | CFTR,CFTR-AS1 | c.1471T>G (p.Cys491Gly) c.*1185T>G (n.*1185T>G) c.1288T>G (p.Cys430Gly) c.*29T>G (n.*29T>G) c.*1295T>G (n.*1295T>G) c.1045T>G (p.Cys349Gly) c.1381T>G (p.Cys461Gly) c.1561T>G (p.Cys521Gly) c.1228T>G (p.Cys410Gly) n.221+1191A>C | |
7 | g.117559542T= | CA1737384382 | CFTR,CFTR-AS1 | c.1471T= (p.Cys491=) c.*1185T= (n.*1185T=) c.1288T= (p.Cys430=) c.*29T= (n.*29T=) c.*1295T= (n.*1295T=) c.1045T= (p.Cys349=) c.1381T= (p.Cys461=) c.1561T= (p.Cys521=) c.1228T= (p.Cys410=) n.221+1191A= | |
7 | g.117559543_117559553del | CA2580076300 | CFTR,CFTR-AS1 | c.1472_1482del (p.Cys491PhefsTer9) c.*1186_*1196del (n.*1186_*1196del) c.1289_1299del (p.Cys430PhefsTer9) c.*30_*40del (n.*30_*40del) c.*1296_*1306del (n.*1296_*1306del) c.1046_1056del (p.Cys349PhefsTer9) c.1382_1392del (p.Cys461PhefsTer9) c.1562_1572del (p.Cys521PhefsTer9) c.1229_1239del (p.Cys410PhefsTer9) n.221+1181_221+1191del | ClinVar |
7 | g.117559543G>A | CA368984526 | CFTR,CFTR-AS1 | c.1472G>A (p.Cys491Tyr) c.*1186G>A (n.*1186G>A) c.1289G>A (p.Cys430Tyr) c.*30G>A (n.*30G>A) c.*1296G>A (n.*1296G>A) c.1046G>A (p.Cys349Tyr) c.1382G>A (p.Cys461Tyr) c.1562G>A (p.Cys521Tyr) c.1229G>A (p.Cys410Tyr) n.221+1190C>T | gnomAD v4 |
7 | g.117559543G>C | CA368984527 | CFTR,CFTR-AS1 | c.1472G>C (p.Cys491Ser) c.*1186G>C (n.*1186G>C) c.1289G>C (p.Cys430Ser) c.*30G>C (n.*30G>C) c.*1296G>C (n.*1296G>C) c.1046G>C (p.Cys349Ser) c.1382G>C (p.Cys461Ser) c.1562G>C (p.Cys521Ser) c.1229G>C (p.Cys410Ser) n.221+1190C>G | ClinVar gnomAD v4 |
7 | g.117559543G= | CA1737384396 | CFTR,CFTR-AS1 | c.1472G= (p.Cys491=) c.*1186G= (n.*1186G=) c.1289G= (p.Cys430=) c.*30G= (n.*30G=) c.*1296G= (n.*1296G=) c.1046G= (p.Cys349=) c.1382G= (p.Cys461=) c.1562G= (p.Cys521=) c.1229G= (p.Cys410=) n.221+1190C= | |
7 | g.117559543G>T | CA4451010 | CFTR,CFTR-AS1 | c.1472G>T (p.Cys491Phe) c.*1186G>T (n.*1186G>T) c.1289G>T (p.Cys430Phe) c.*30G>T (n.*30G>T) c.*1296G>T (n.*1296G>T) c.1046G>T (p.Cys349Phe) c.1382G>T (p.Cys461Phe) c.1562G>T (p.Cys521Phe) c.1229G>T (p.Cys410Phe) n.221+1190C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117559544T>A | CA368984529 | CFTR,CFTR-AS1 | c.1473T>A (p.Cys491Ter) c.*1187T>A (n.*1187T>A) c.1290T>A (p.Cys430Ter) c.*31T>A (n.*31T>A) c.*1297T>A (n.*1297T>A) c.1047T>A (p.Cys349Ter) c.1383T>A (p.Cys461Ter) c.1563T>A (p.Cys521Ter) c.1230T>A (p.Cys410Ter) n.221+1189A>T | |
7 | g.117559544T>C | CA457228805 | CFTR,CFTR-AS1 | c.1473T>C (p.Cys491=) c.*1187T>C (n.*1187T>C) c.1290T>C (p.Cys430=) c.*31T>C (n.*31T>C) c.*1297T>C (n.*1297T>C) c.1047T>C (p.Cys349=) c.1383T>C (p.Cys461=) c.1563T>C (p.Cys521=) c.1230T>C (p.Cys410=) n.221+1189A>G | COSMIC |
7 | g.117559544T>G | CA368984530 | CFTR,CFTR-AS1 | c.1473T>G (p.Cys491Trp) c.*1187T>G (n.*1187T>G) c.1290T>G (p.Cys430Trp) c.*31T>G (n.*31T>G) c.*1297T>G (n.*1297T>G) c.1047T>G (p.Cys349Trp) c.1383T>G (p.Cys461Trp) c.1563T>G (p.Cys521Trp) c.1230T>G (p.Cys410Trp) n.221+1189A>C | |
7 | g.117559545T>A | CA368984532 | CFTR,CFTR-AS1 | c.1474T>A (p.Ser492Thr) c.*1188T>A (n.*1188T>A) c.1291T>A (p.Ser431Thr) c.*32T>A (n.*32T>A) c.*1298T>A (n.*1298T>A) c.1048T>A (p.Ser350Thr) c.1384T>A (p.Ser462Thr) c.1564T>A (p.Ser522Thr) c.1231T>A (p.Ser411Thr) n.221+1188A>T | |
7 | g.117559545T>C | CA368984533 | CFTR,CFTR-AS1 | c.1474T>C (p.Ser492Pro) c.*1188T>C (n.*1188T>C) c.1291T>C (p.Ser431Pro) c.*32T>C (n.*32T>C) c.*1298T>C (n.*1298T>C) c.1048T>C (p.Ser350Pro) c.1384T>C (p.Ser462Pro) c.1564T>C (p.Ser522Pro) c.1231T>C (p.Ser411Pro) n.221+1188A>G | |
7 | g.117559545T>G | CA368984535 | CFTR,CFTR-AS1 | c.1474T>G (p.Ser492Ala) c.*1188T>G (n.*1188T>G) c.1291T>G (p.Ser431Ala) c.*32T>G (n.*32T>G) c.*1298T>G (n.*1298T>G) c.1048T>G (p.Ser350Ala) c.1384T>G (p.Ser462Ala) c.1564T>G (p.Ser522Ala) c.1231T>G (p.Ser411Ala) n.221+1188A>C | |
7 | g.117559546C>A | CA368984536 | CFTR,CFTR-AS1 | c.1475C>A (p.Ser492Tyr) c.*1189C>A (n.*1189C>A) c.1292C>A (p.Ser431Tyr) c.*33C>A (n.*33C>A) c.*1299C>A (n.*1299C>A) c.1049C>A (p.Ser350Tyr) c.1385C>A (p.Ser462Tyr) c.1565C>A (p.Ser522Tyr) c.1232C>A (p.Ser411Tyr) n.221+1187G>T | |
7 | g.117559546C= | CA1737384406 | CFTR,CFTR-AS1 | c.1475C= (p.Ser492=) c.*1189C= (n.*1189C=) c.1292C= (p.Ser431=) c.*33C= (n.*33C=) c.*1299C= (n.*1299C=) c.1049C= (p.Ser350=) c.1385C= (p.Ser462=) c.1565C= (p.Ser522=) c.1232C= (p.Ser411=) n.221+1187G= | |
7 | g.117559546C>G | CA368984537 | CFTR,CFTR-AS1 | c.1475C>G (p.Ser492Cys) c.*1189C>G (n.*1189C>G) c.1292C>G (p.Ser431Cys) c.*33C>G (n.*33C>G) c.*1299C>G (n.*1299C>G) c.1049C>G (p.Ser350Cys) c.1385C>G (p.Ser462Cys) c.1565C>G (p.Ser522Cys) c.1232C>G (p.Ser411Cys) n.221+1187G>C | |
7 | g.117559546C>T | CA325551 | CFTR,CFTR-AS1 | c.1475C>T (p.Ser492Phe) c.*1189C>T (n.*1189C>T) c.1292C>T (p.Ser431Phe) c.*33C>T (n.*33C>T) c.*1299C>T (n.*1299C>T) c.1049C>T (p.Ser350Phe) c.1385C>T (p.Ser462Phe) c.1565C>T (p.Ser522Phe) c.1232C>T (p.Ser411Phe) n.221+1187G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
7 | g.117559547T>A | CA457228809 | CFTR,CFTR-AS1 | c.1476T>A (p.Ser492=) c.*1190T>A (n.*1190T>A) c.1293T>A (p.Ser431=) c.*34T>A (n.*34T>A) c.*1300T>A (n.*1300T>A) c.1050T>A (p.Ser350=) c.1386T>A (p.Ser462=) c.1566T>A (p.Ser522=) c.1233T>A (p.Ser411=) n.221+1186A>T | |
7 | g.117559547T>C | CA457228806 | CFTR,CFTR-AS1 | c.1476T>C (p.Ser492=) c.*1190T>C (n.*1190T>C) c.1293T>C (p.Ser431=) c.*34T>C (n.*34T>C) c.*1300T>C (n.*1300T>C) c.1050T>C (p.Ser350=) c.1386T>C (p.Ser462=) c.1566T>C (p.Ser522=) c.1233T>C (p.Ser411=) n.221+1186A>G | gnomAD v4 |
7 | g.117559547T>G | CA457228808 | CFTR,CFTR-AS1 | c.1476T>G (p.Ser492=) c.*1190T>G (n.*1190T>G) c.1293T>G (p.Ser431=) c.*34T>G (n.*34T>G) c.*1300T>G (n.*1300T>G) c.1050T>G (p.Ser350=) c.1386T>G (p.Ser462=) c.1566T>G (p.Ser522=) c.1233T>G (p.Ser411=) n.221+1186A>C | |
7 | g.117559547_117559549delinsTCA | CA1737384413 | CFTR,CFTR-AS1 | c.1476_1478delinsTCA (p.Ser492=) c.*1190_*1192delinsTCA (n.*1190_*1192delinsTCA) c.1293_1295delinsTCA (p.Ser431=) c.*34_*36delinsTCA (n.*34_*36delinsTCA) c.*1300_*1302delinsTCA (n.*1300_*1302delinsTCA) c.1050_1052delinsTCA (p.Ser350=) c.1386_1388delinsTCA (p.Ser462=) c.1566_1568delinsTCA (p.Ser522=) c.1233_1235delinsTCA (p.Ser411=) n.221+1184_221+1186delinsTGA | |
7 | g.117559548C>A | CA368984539 | CFTR,CFTR-AS1 | c.1477C>A (p.Gln493Lys) c.*1191C>A (n.*1191C>A) c.1294C>A (p.Gln432Lys) c.*35C>A (n.*35C>A) c.*1301C>A (n.*1301C>A) c.1051C>A (p.Gln351Lys) c.1387C>A (p.Gln463Lys) c.1567C>A (p.Gln523Lys) c.1234C>A (p.Gln412Lys) n.221+1185G>T | gnomAD v4 |
7 | g.117559548C= | CA1737384422 | CFTR,CFTR-AS1 | c.1477C= (p.Gln493=) c.*1191C= (n.*1191C=) c.1294C= (p.Gln432=) c.*35C= (n.*35C=) c.*1301C= (n.*1301C=) c.1051C= (p.Gln351=) c.1387C= (p.Gln463=) c.1567C= (p.Gln523=) c.1234C= (p.Gln412=) n.221+1185G= | |
7 | g.117559548C>G | CA368984540 | CFTR,CFTR-AS1 | c.1477C>G (p.Gln493Glu) c.*1191C>G (n.*1191C>G) c.1294C>G (p.Gln432Glu) c.*35C>G (n.*35C>G) c.*1301C>G (n.*1301C>G) c.1051C>G (p.Gln351Glu) c.1387C>G (p.Gln463Glu) c.1567C>G (p.Gln523Glu) c.1234C>G (p.Gln412Glu) n.221+1185G>C | |
7 | g.117559548C>T | CA325518 | CFTR,CFTR-AS1 | c.1477C>T (p.Gln493Ter) c.*1191C>T (n.*1191C>T) c.1294C>T (p.Gln432Ter) c.*35C>T (n.*35C>T) c.*1301C>T (n.*1301C>T) c.1051C>T (p.Gln351Ter) c.1387C>T (p.Gln463Ter) c.1567C>T (p.Gln523Ter) c.1234C>T (p.Gln412Ter) n.221+1185G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117559548_117559549del | CA325605 | CFTR,CFTR-AS1 | c.1477_1478del (p.Gln493ValfsTer10) c.*1191_*1192del (n.*1191_*1192del) c.1294_1295del (p.Gln432ValfsTer10) c.*35_*36del (n.*35_*36del) c.*1301_*1302del (n.*1301_*1302del) c.1051_1052del (p.Gln351ValfsTer10) c.1387_1388del (p.Gln463ValfsTer10) c.1567_1568del (p.Gln523ValfsTer10) c.1234_1235del (p.Gln412ValfsTer10) n.221+1184_221+1185del | ClinVar dbSNP gnomAD v4 |
7 | g.117559549A= | CA1737384430 | CFTR,CFTR-AS1 | c.1478A= (p.Gln493=) c.*1192A= (n.*1192A=) c.1295A= (p.Gln432=) c.*36A= (n.*36A=) c.*1302A= (n.*1302A=) c.1052A= (p.Gln351=) c.1388A= (p.Gln463=) c.1568A= (p.Gln523=) c.1235A= (p.Gln412=) n.221+1184T= | |
7 | g.117559549A>C | CA326496 | CFTR,CFTR-AS1 | c.1478A>C (p.Gln493Pro) c.*1192A>C (n.*1192A>C) c.1295A>C (p.Gln432Pro) c.*36A>C (n.*36A>C) c.*1302A>C (n.*1302A>C) c.1052A>C (p.Gln351Pro) c.1388A>C (p.Gln463Pro) c.1568A>C (p.Gln523Pro) c.1235A>C (p.Gln412Pro) n.221+1184T>G | ClinVar dbSNP gnomAD v4 COSMIC |
7 | g.117559549A>G | CA326498 | CFTR,CFTR-AS1 | c.1478A>G (p.Gln493Arg) c.*1192A>G (n.*1192A>G) c.1295A>G (p.Gln432Arg) c.*36A>G (n.*36A>G) c.*1302A>G (n.*1302A>G) c.1052A>G (p.Gln351Arg) c.1388A>G (p.Gln463Arg) c.1568A>G (p.Gln523Arg) c.1235A>G (p.Gln412Arg) n.221+1184T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117559549A>T | CA368984544 | CFTR,CFTR-AS1 | c.1478A>T (p.Gln493Leu) c.*1192A>T (n.*1192A>T) c.1295A>T (p.Gln432Leu) c.*36A>T (n.*36A>T) c.*1302A>T (n.*1302A>T) c.1052A>T (p.Gln351Leu) c.1388A>T (p.Gln463Leu) c.1568A>T (p.Gln523Leu) c.1235A>T (p.Gln412Leu) n.221+1184T>A | ClinVar dbSNP |
7 | g.117559550G>A | CA457228811 | CFTR,CFTR-AS1 | c.1479G>A (p.Gln493=) c.*1193G>A (n.*1193G>A) c.1296G>A (p.Gln432=) c.*37G>A (n.*37G>A) c.*1303G>A (n.*1303G>A) c.1053G>A (p.Gln351=) c.1389G>A (p.Gln463=) c.1569G>A (p.Gln523=) c.1236G>A (p.Gln412=) n.221+1183C>T | ClinVar |
7 | g.117559550G>C | CA368984545 | CFTR,CFTR-AS1 | c.1479G>C (p.Gln493His) c.*1193G>C (n.*1193G>C) c.1296G>C (p.Gln432His) c.*37G>C (n.*37G>C) c.*1303G>C (n.*1303G>C) c.1053G>C (p.Gln351His) c.1389G>C (p.Gln463His) c.1569G>C (p.Gln523His) c.1236G>C (p.Gln412His) n.221+1183C>G | ClinVar dbSNP |
7 | g.117559550G= | CA1737384441 | CFTR,CFTR-AS1 | c.1479G= (p.Gln493=) c.*1193G= (n.*1193G=) c.1296G= (p.Gln432=) c.*37G= (n.*37G=) c.*1303G= (n.*1303G=) c.1053G= (p.Gln351=) c.1389G= (p.Gln463=) c.1569G= (p.Gln523=) c.1236G= (p.Gln412=) n.221+1183C= | |
7 | g.117559550G>T | CA368984546 | CFTR,CFTR-AS1 | c.1479G>T (p.Gln493His) c.*1193G>T (n.*1193G>T) c.1296G>T (p.Gln432His) c.*37G>T (n.*37G>T) c.*1303G>T (n.*1303G>T) c.1053G>T (p.Gln351His) c.1389G>T (p.Gln463His) c.1569G>T (p.Gln523His) c.1236G>T (p.Gln412His) n.221+1183C>A | |
7 | g.117559550_117559552delinsGTT | CA1737384442 | CFTR,CFTR-AS1 | c.1479_1481delinsGTT (p.Gln493=) c.*1193_*1195delinsGTT (n.*1193_*1195delinsGTT) c.1296_1298delinsGTT (p.Gln432=) c.*37_*39delinsGTT (n.*37_*39delinsGTT) c.*1303_*1305delinsGTT (n.*1303_*1305delinsGTT) c.1053_1055delinsGTT (p.Gln351=) c.1389_1391delinsGTT (p.Gln463=) c.1569_1571delinsGTT (p.Gln523=) c.1236_1238delinsGTT (p.Gln412=) n.221+1181_221+1183delinsAAC | |
7 | g.117559550_117559565delinsCCTT | CA2695208321 | CFTR,CFTR-AS1 | c.1479_1494delinsCCTT (p.Gln493_Met498delinsHisLeu) c.*1193_*1208delinsCCTT (n.*1193_*1208delinsCCTT) c.1296_1311delinsCCTT (p.Gln432_Met437delinsHisLeu) c.*37_*52delinsCCTT (n.*37_*52delinsCCTT) c.*1303_*1318delinsCCTT (n.*1303_*1318delinsCCTT) c.1053_1068delinsCCTT (p.Gln351_Met356delinsHisLeu) c.1389_1404delinsCCTT (p.Gln463_Met468delinsHisLeu) c.1569_1584delinsCCTT (p.Gln523_Met528delinsHisLeu) c.1236_1251delinsCCTT (p.Gln412_Met417delinsHisLeu) n.221+1168_221+1183delinsAAGG | |
7 | g.117559551T>A | CA368984548 | CFTR,CFTR-AS1 | c.1480T>A (p.Phe494Ile) c.*1194T>A (n.*1194T>A) c.1297T>A (p.Phe433Ile) c.*38T>A (n.*38T>A) c.*1304T>A (n.*1304T>A) c.1054T>A (p.Phe352Ile) c.1390T>A (p.Phe464Ile) c.1570T>A (p.Phe524Ile) c.1237T>A (p.Phe413Ile) n.221+1182A>T | |
7 | g.117559551T>C | CA368984549 | CFTR,CFTR-AS1 | c.1480T>C (p.Phe494Leu) c.*1194T>C (n.*1194T>C) c.1297T>C (p.Phe433Leu) c.*38T>C (n.*38T>C) c.*1304T>C (n.*1304T>C) c.1054T>C (p.Phe352Leu) c.1390T>C (p.Phe464Leu) c.1570T>C (p.Phe524Leu) c.1237T>C (p.Phe413Leu) n.221+1182A>G | |
7 | g.117559551T>G | CA368984551 | CFTR,CFTR-AS1 | c.1480T>G (p.Phe494Val) c.*1194T>G (n.*1194T>G) c.1297T>G (p.Phe433Val) c.*38T>G (n.*38T>G) c.*1304T>G (n.*1304T>G) c.1054T>G (p.Phe352Val) c.1390T>G (p.Phe464Val) c.1570T>G (p.Phe524Val) c.1237T>G (p.Phe413Val) n.221+1182A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117559551T= | CA1737384445 | CFTR,CFTR-AS1 | c.1480T= (p.Phe494=) c.*1194T= (n.*1194T=) c.1297T= (p.Phe433=) c.*38T= (n.*38T=) c.*1304T= (n.*1304T=) c.1054T= (p.Phe352=) c.1390T= (p.Phe464=) c.1570T= (p.Phe524=) c.1237T= (p.Phe413=) n.221+1182A= | |
7 | g.117559554del | CA2580076302 | CFTR,CFTR-AS1 | c.1483del (p.Ser495ProfsTer?) c.*1197del (n.*1197del) c.1300del (p.Ser434ProfsTer?) c.*41del (n.*41del) c.*1307del (n.*1307del) c.1057del (p.Ser353ProfsTer?) c.1393del (p.Ser465ProfsTer?) c.1573del (p.Ser525ProfsTer?) c.1240del (p.Ser414ProfsTer?) n.221+1182del | ClinVar |
7 | g.117559553_117559554del | CA326500 | CFTR,CFTR-AS1 | c.1482_1483del (p.Ser495LeufsTer8) c.*1196_*1197del (n.*1196_*1197del) c.1299_1300del (p.Ser434LeufsTer8) c.*40_*41del (n.*40_*41del) c.*1306_*1307del (n.*1306_*1307del) c.1056_1057del (p.Ser353LeufsTer8) c.1392_1393del (p.Ser465LeufsTer8) c.1572_1573del (p.Ser525LeufsTer8) c.1239_1240del (p.Ser414LeufsTer8) n.221+1181_221+1182del | dbSNP |
7 | g.117559552T>A | CA368984552 | CFTR,CFTR-AS1 | c.1481T>A (p.Phe494Tyr) c.*1195T>A (n.*1195T>A) c.1298T>A (p.Phe433Tyr) c.*39T>A (n.*39T>A) c.*1305T>A (n.*1305T>A) c.1055T>A (p.Phe352Tyr) c.1391T>A (p.Phe464Tyr) c.1571T>A (p.Phe524Tyr) c.1238T>A (p.Phe413Tyr) n.221+1181A>T | |
7 | g.117559552T>C | CA368984554 | CFTR,CFTR-AS1 | c.1481T>C (p.Phe494Ser) c.*1195T>C (n.*1195T>C) c.1298T>C (p.Phe433Ser) c.*39T>C (n.*39T>C) c.*1305T>C (n.*1305T>C) c.1055T>C (p.Phe352Ser) c.1391T>C (p.Phe464Ser) c.1571T>C (p.Phe524Ser) c.1238T>C (p.Phe413Ser) n.221+1181A>G | |
7 | g.117559552T>G | CA368984555 | CFTR,CFTR-AS1 | c.1481T>G (p.Phe494Cys) c.*1195T>G (n.*1195T>G) c.1298T>G (p.Phe433Cys) c.*39T>G (n.*39T>G) c.*1305T>G (n.*1305T>G) c.1055T>G (p.Phe352Cys) c.1391T>G (p.Phe464Cys) c.1571T>G (p.Phe524Cys) c.1238T>G (p.Phe413Cys) n.221+1181A>C | |
7 | g.117559553T>A | CA368984557 | CFTR,CFTR-AS1 | c.1482T>A (p.Phe494Leu) c.*1196T>A (n.*1196T>A) c.1299T>A (p.Phe433Leu) c.*40T>A (n.*40T>A) c.*1306T>A (n.*1306T>A) c.1056T>A (p.Phe352Leu) c.1392T>A (p.Phe464Leu) c.1572T>A (p.Phe524Leu) c.1239T>A (p.Phe413Leu) n.221+1180A>T | |
7 | g.117559553T>C | CA457228814 | CFTR,CFTR-AS1 | c.1482T>C (p.Phe494=) c.*1196T>C (n.*1196T>C) c.1299T>C (p.Phe433=) c.*40T>C (n.*40T>C) c.*1306T>C (n.*1306T>C) c.1056T>C (p.Phe352=) c.1392T>C (p.Phe464=) c.1572T>C (p.Phe524=) c.1239T>C (p.Phe413=) n.221+1180A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117559553T>G | CA368984558 | CFTR,CFTR-AS1 | c.1482T>G (p.Phe494Leu) c.*1196T>G (n.*1196T>G) c.1299T>G (p.Phe433Leu) c.*40T>G (n.*40T>G) c.*1306T>G (n.*1306T>G) c.1056T>G (p.Phe352Leu) c.1392T>G (p.Phe464Leu) c.1572T>G (p.Phe524Leu) c.1239T>G (p.Phe413Leu) n.221+1180A>C | |
7 | g.117559553T= | CA1737384450 | CFTR,CFTR-AS1 | c.1482T= (p.Phe494=) c.*1196T= (n.*1196T=) c.1299T= (p.Phe433=) c.*40T= (n.*40T=) c.*1306T= (n.*1306T=) c.1056T= (p.Phe352=) c.1392T= (p.Phe464=) c.1572T= (p.Phe524=) c.1239T= (p.Phe413=) n.221+1180A= | |
7 | g.117559554T>A | CA368984560 | CFTR,CFTR-AS1 | c.1483T>A (p.Ser495Thr) c.*1197T>A (n.*1197T>A) c.1300T>A (p.Ser434Thr) c.*41T>A (n.*41T>A) c.*1307T>A (n.*1307T>A) c.1057T>A (p.Ser353Thr) c.1393T>A (p.Ser465Thr) c.1573T>A (p.Ser525Thr) c.1240T>A (p.Ser414Thr) n.221+1179A>T | |
7 | g.117559554T>C | CA368984562 | CFTR,CFTR-AS1 | c.1483T>C (p.Ser495Pro) c.*1197T>C (n.*1197T>C) c.1300T>C (p.Ser434Pro) c.*41T>C (n.*41T>C) c.*1307T>C (n.*1307T>C) c.1057T>C (p.Ser353Pro) c.1393T>C (p.Ser465Pro) c.1573T>C (p.Ser525Pro) c.1240T>C (p.Ser414Pro) n.221+1179A>G | |
7 | g.117559554T>G | CA368984563 | CFTR,CFTR-AS1 | c.1483T>G (p.Ser495Ala) c.*1197T>G (n.*1197T>G) c.1300T>G (p.Ser434Ala) c.*41T>G (n.*41T>G) c.*1307T>G (n.*1307T>G) c.1057T>G (p.Ser353Ala) c.1393T>G (p.Ser465Ala) c.1573T>G (p.Ser525Ala) c.1240T>G (p.Ser414Ala) n.221+1179A>C | dbSNP |
7 | g.117559554T= | CA1737384452 | CFTR,CFTR-AS1 | c.1483T= (p.Ser495=) c.*1197T= (n.*1197T=) c.1300T= (p.Ser434=) c.*41T= (n.*41T=) c.*1307T= (n.*1307T=) c.1057T= (p.Ser353=) c.1393T= (p.Ser465=) c.1573T= (p.Ser525=) c.1240T= (p.Ser414=) n.221+1179A= | |
7 | g.117559555C>A | CA368984566 | CFTR,CFTR-AS1 | c.1484C>A (p.Ser495Tyr) c.*1198C>A (n.*1198C>A) c.1301C>A (p.Ser434Tyr) c.*42C>A (n.*42C>A) c.*1308C>A (n.*1308C>A) c.1058C>A (p.Ser353Tyr) c.1394C>A (p.Ser465Tyr) c.1574C>A (p.Ser525Tyr) c.1241C>A (p.Ser414Tyr) n.221+1178G>T | ClinVar |
7 | g.117559555C= | CA1737384457 | CFTR,CFTR-AS1 | c.1484C= (p.Ser495=) c.*1198C= (n.*1198C=) c.1301C= (p.Ser434=) c.*42C= (n.*42C=) c.*1308C= (n.*1308C=) c.1058C= (p.Ser353=) c.1394C= (p.Ser465=) c.1574C= (p.Ser525=) c.1241C= (p.Ser414=) n.221+1178G= | |
7 | g.117559555C>G | CA368984567 | CFTR,CFTR-AS1 | c.1484C>G (p.Ser495Cys) c.*1198C>G (n.*1198C>G) c.1301C>G (p.Ser434Cys) c.*42C>G (n.*42C>G) c.*1308C>G (n.*1308C>G) c.1058C>G (p.Ser353Cys) c.1394C>G (p.Ser465Cys) c.1574C>G (p.Ser525Cys) c.1241C>G (p.Ser414Cys) n.221+1178G>C | ClinVar |
7 | g.117559555C>T | CA164967725 | CFTR,CFTR-AS1 | c.1484C>T (p.Ser495Phe) c.*1198C>T (n.*1198C>T) c.1301C>T (p.Ser434Phe) c.*42C>T (n.*42C>T) c.*1308C>T (n.*1308C>T) c.1058C>T (p.Ser353Phe) c.1394C>T (p.Ser465Phe) c.1574C>T (p.Ser525Phe) c.1241C>T (p.Ser414Phe) n.221+1178G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
7 | g.117559556C>A | CA457228819 | CFTR,CFTR-AS1 | c.1485C>A (p.Ser495=) c.*1199C>A (n.*1199C>A) c.1302C>A (p.Ser434=) c.*43C>A (n.*43C>A) c.*1309C>A (n.*1309C>A) c.1059C>A (p.Ser353=) c.1395C>A (p.Ser465=) c.1575C>A (p.Ser525=) c.1242C>A (p.Ser414=) n.221+1177G>T | |
7 | g.117559556C>G | CA457228818 | CFTR,CFTR-AS1 | c.1485C>G (p.Ser495=) c.*1199C>G (n.*1199C>G) c.1302C>G (p.Ser434=) c.*43C>G (n.*43C>G) c.*1309C>G (n.*1309C>G) c.1059C>G (p.Ser353=) c.1395C>G (p.Ser465=) c.1575C>G (p.Ser525=) c.1242C>G (p.Ser414=) n.221+1177G>C | ClinVar |
7 | g.117559556C>T | CA457228817 | CFTR,CFTR-AS1 | c.1485C>T (p.Ser495=) c.*1199C>T (n.*1199C>T) c.1302C>T (p.Ser434=) c.*43C>T (n.*43C>T) c.*1309C>T (n.*1309C>T) c.1059C>T (p.Ser353=) c.1395C>T (p.Ser465=) c.1575C>T (p.Ser525=) c.1242C>T (p.Ser414=) n.221+1177G>A | |
7 | g.117559556_117559557delinsCT | CA1737384465 | CFTR,CFTR-AS1 | c.1485_1486delinsCT (p.Ser495=) c.*1199_*1200delinsCT (n.*1199_*1200delinsCT) c.1302_1303delinsCT (p.Ser434=) c.*43_*44delinsCT (n.*43_*44delinsCT) c.*1309_*1310delinsCT (n.*1309_*1310delinsCT) c.1059_1060delinsCT (p.Ser353=) c.1395_1396delinsCT (p.Ser465=) c.1575_1576delinsCT (p.Ser525=) c.1242_1243delinsCT (p.Ser414=) n.221+1176_221+1177delinsAG | |
7 | g.117559557del | CA915945483 | CFTR,CFTR-AS1 | c.1486del (p.Trp496GlyfsTer?) c.*1200del (n.*1200del) c.1303del (p.Trp435GlyfsTer?) c.*44del (n.*44del) c.*1310del (n.*1310del) c.1060del (p.Trp354GlyfsTer?) c.1396del (p.Trp466GlyfsTer?) c.1576del (p.Trp526GlyfsTer?) c.1243del (p.Trp415GlyfsTer?) n.221+1176del | ClinVar dbSNP |
7 | g.117559557T>A | CA368984569 | CFTR,CFTR-AS1 | c.1486T>A (p.Trp496Arg) c.*1200T>A (n.*1200T>A) c.1303T>A (p.Trp435Arg) c.*44T>A (n.*44T>A) c.*1310T>A (n.*1310T>A) c.1060T>A (p.Trp354Arg) c.1396T>A (p.Trp466Arg) c.1576T>A (p.Trp526Arg) c.1243T>A (p.Trp415Arg) n.221+1176A>T | |
7 | g.117559557T>C | CA368984571 | CFTR,CFTR-AS1 | c.1486T>C (p.Trp496Arg) c.*1200T>C (n.*1200T>C) c.1303T>C (p.Trp435Arg) c.*44T>C (n.*44T>C) c.*1310T>C (n.*1310T>C) c.1060T>C (p.Trp354Arg) c.1396T>C (p.Trp466Arg) c.1576T>C (p.Trp526Arg) c.1243T>C (p.Trp415Arg) n.221+1176A>G | ClinVar dbSNP gnomAD v4 |
7 | g.117559557T>G | CA368984573 | CFTR,CFTR-AS1 | c.1486T>G (p.Trp496Gly) c.*1200T>G (n.*1200T>G) c.1303T>G (p.Trp435Gly) c.*44T>G (n.*44T>G) c.*1310T>G (n.*1310T>G) c.1060T>G (p.Trp354Gly) c.1396T>G (p.Trp466Gly) c.1576T>G (p.Trp526Gly) c.1243T>G (p.Trp415Gly) n.221+1176A>C | |
7 | g.117559557T= | CA1737384478 | CFTR,CFTR-AS1 | c.1486T= (p.Trp496=) c.*1200T= (n.*1200T=) c.1303T= (p.Trp435=) c.*44T= (n.*44T=) c.*1310T= (n.*1310T=) c.1060T= (p.Trp354=) c.1396T= (p.Trp466=) c.1576T= (p.Trp526=) c.1243T= (p.Trp415=) n.221+1176A= | |
7 | g.117559558G>A | CA326501 | CFTR,CFTR-AS1 | c.1487G>A (p.Trp496Ter) c.*1201G>A (n.*1201G>A) c.1304G>A (p.Trp435Ter) c.*45G>A (n.*45G>A) c.*1311G>A (n.*1311G>A) c.1061G>A (p.Trp354Ter) c.1397G>A (p.Trp466Ter) c.1577G>A (p.Trp526Ter) c.1244G>A (p.Trp415Ter) n.221+1175C>T | ClinVar dbSNP gnomAD v4 COSMIC |
7 | g.117559558G>C | CA368984574 | CFTR,CFTR-AS1 | c.1487G>C (p.Trp496Ser) c.*1201G>C (n.*1201G>C) c.1304G>C (p.Trp435Ser) c.*45G>C (n.*45G>C) c.*1311G>C (n.*1311G>C) c.1061G>C (p.Trp354Ser) c.1397G>C (p.Trp466Ser) c.1577G>C (p.Trp526Ser) c.1244G>C (p.Trp415Ser) n.221+1175C>G | |
7 | g.117559558G= | CA1737384487 | CFTR,CFTR-AS1 | c.1487G= (p.Trp496=) c.*1201G= (n.*1201G=) c.1304G= (p.Trp435=) c.*45G= (n.*45G=) c.*1311G= (n.*1311G=) c.1061G= (p.Trp354=) c.1397G= (p.Trp466=) c.1577G= (p.Trp526=) c.1244G= (p.Trp415=) n.221+1175C= | |
7 | g.117559558G>T | CA368984576 | CFTR,CFTR-AS1 | c.1487G>T (p.Trp496Leu) c.*1201G>T (n.*1201G>T) c.1304G>T (p.Trp435Leu) c.*45G>T (n.*45G>T) c.*1311G>T (n.*1311G>T) c.1061G>T (p.Trp354Leu) c.1397G>T (p.Trp466Leu) c.1577G>T (p.Trp526Leu) c.1244G>T (p.Trp415Leu) n.221+1175C>A | |
7 | g.117559559G>A | CA164967727 | CFTR,CFTR-AS1 | c.1488G>A (p.Trp496Ter) c.*1202G>A (n.*1202G>A) c.1305G>A (p.Trp435Ter) c.*46G>A (n.*46G>A) c.*1312G>A (n.*1312G>A) c.1062G>A (p.Trp354Ter) c.1398G>A (p.Trp466Ter) c.1578G>A (p.Trp526Ter) c.1245G>A (p.Trp415Ter) n.221+1174C>T | ClinVar dbSNP |
7 | g.117559559G>C | CA164967729 | CFTR,CFTR-AS1 | c.1488G>C (p.Trp496Cys) c.*1202G>C (n.*1202G>C) c.1305G>C (p.Trp435Cys) c.*46G>C (n.*46G>C) c.*1312G>C (n.*1312G>C) c.1062G>C (p.Trp354Cys) c.1398G>C (p.Trp466Cys) c.1578G>C (p.Trp526Cys) c.1245G>C (p.Trp415Cys) n.221+1174C>G | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117559559G= | CA1737384490 | CFTR,CFTR-AS1 | c.1488G= (p.Trp496=) c.*1202G= (n.*1202G=) c.1305G= (p.Trp435=) c.*46G= (n.*46G=) c.*1312G= (n.*1312G=) c.1062G= (p.Trp354=) c.1398G= (p.Trp466=) c.1578G= (p.Trp526=) c.1245G= (p.Trp415=) n.221+1174C= | |
7 | g.117559559G>T | CA368984578 | CFTR,CFTR-AS1 | c.1488G>T (p.Trp496Cys) c.*1202G>T (n.*1202G>T) c.1305G>T (p.Trp435Cys) c.*46G>T (n.*46G>T) c.*1312G>T (n.*1312G>T) c.1062G>T (p.Trp354Cys) c.1398G>T (p.Trp466Cys) c.1578G>T (p.Trp526Cys) c.1245G>T (p.Trp415Cys) n.221+1174C>A | gnomAD v4 |
7 | g.117559560A>C | CA368984580 | CFTR,CFTR-AS1 | c.1489A>C (p.Ile497Leu) c.*1203A>C (n.*1203A>C) c.1306A>C (p.Ile436Leu) c.*47A>C (n.*47A>C) c.*1313A>C (n.*1313A>C) c.1063A>C (p.Ile355Leu) c.1399A>C (p.Ile467Leu) c.1579A>C (p.Ile527Leu) c.1246A>C (p.Ile416Leu) n.221+1173T>G | |
7 | g.117559560A>G | CA368984581 | CFTR,CFTR-AS1 | c.1489A>G (p.Ile497Val) c.*1203A>G (n.*1203A>G) c.1306A>G (p.Ile436Val) c.*47A>G (n.*47A>G) c.*1313A>G (n.*1313A>G) c.1063A>G (p.Ile355Val) c.1399A>G (p.Ile467Val) c.1579A>G (p.Ile527Val) c.1246A>G (p.Ile416Val) n.221+1173T>C | gnomAD v4 |
7 | g.117559560A>T | CA368984582 | CFTR,CFTR-AS1 | c.1489A>T (p.Ile497Phe) c.*1203A>T (n.*1203A>T) c.1306A>T (p.Ile436Phe) c.*47A>T (n.*47A>T) c.*1313A>T (n.*1313A>T) c.1063A>T (p.Ile355Phe) c.1399A>T (p.Ile467Phe) c.1579A>T (p.Ile527Phe) c.1246A>T (p.Ile416Phe) n.221+1173T>A | gnomAD v4 |
7 | g.117559564_117559578del | CA2573052806 | CFTR,CFTR-AS1 | c.1493_1507del (p.Met498_Ile502del) c.*1207_*1221del (n.*1207_*1221del) c.1310_1324del (p.Met437_Ile441del) c.*51_*65del (n.*51_*65del) c.*1317_*1331del (n.*1317_*1331del) c.1067_1081del (p.Met356_Ile360del) c.1403_1417del (p.Met468_Ile472del) c.1583_1597del (p.Met528_Ile532del) c.1250_1264del (p.Met417_Ile421del) n.221+1159_221+1173del | ClinVar dbSNP |
7 | g.117559561T>A | CA368984584 | CFTR,CFTR-AS1 | c.1490T>A (p.Ile497Asn) c.*1204T>A (n.*1204T>A) c.1307T>A (p.Ile436Asn) c.*48T>A (n.*48T>A) c.*1314T>A (n.*1314T>A) c.1064T>A (p.Ile355Asn) c.1400T>A (p.Ile467Asn) c.1580T>A (p.Ile527Asn) c.1247T>A (p.Ile416Asn) n.221+1172A>T | |
7 | g.117559561T>C | CA368984586 | CFTR,CFTR-AS1 | c.1490T>C (p.Ile497Thr) c.*1204T>C (n.*1204T>C) c.1307T>C (p.Ile436Thr) c.*48T>C (n.*48T>C) c.*1314T>C (n.*1314T>C) c.1064T>C (p.Ile355Thr) c.1400T>C (p.Ile467Thr) c.1580T>C (p.Ile527Thr) c.1247T>C (p.Ile416Thr) n.221+1172A>G | |
7 | g.117559561T>G | CA368984588 | CFTR,CFTR-AS1 | c.1490T>G (p.Ile497Ser) c.*1204T>G (n.*1204T>G) c.1307T>G (p.Ile436Ser) c.*48T>G (n.*48T>G) c.*1314T>G (n.*1314T>G) c.1064T>G (p.Ile355Ser) c.1400T>G (p.Ile467Ser) c.1580T>G (p.Ile527Ser) c.1247T>G (p.Ile416Ser) n.221+1172A>C | ClinVar dbSNP |
7 | g.117559561T= | CA1737384498 | CFTR,CFTR-AS1 | c.1490T= (p.Ile497=) c.*1204T= (n.*1204T=) c.1307T= (p.Ile436=) c.*48T= (n.*48T=) c.*1314T= (n.*1314T=) c.1064T= (p.Ile355=) c.1400T= (p.Ile467=) c.1580T= (p.Ile527=) c.1247T= (p.Ile416=) n.221+1172A= | |
7 | g.117559562T>A | CA457228824 | CFTR,CFTR-AS1 | c.1491T>A (p.Ile497=) c.*1205T>A (n.*1205T>A) c.1308T>A (p.Ile436=) c.*49T>A (n.*49T>A) c.*1315T>A (n.*1315T>A) c.1065T>A (p.Ile355=) c.1401T>A (p.Ile467=) c.1581T>A (p.Ile527=) c.1248T>A (p.Ile416=) n.221+1171A>T | |
7 | g.117559562T>C | CA457228825 | CFTR,CFTR-AS1 | c.1491T>C (p.Ile497=) c.*1205T>C (n.*1205T>C) c.1308T>C (p.Ile436=) c.*49T>C (n.*49T>C) c.*1315T>C (n.*1315T>C) c.1065T>C (p.Ile355=) c.1401T>C (p.Ile467=) c.1581T>C (p.Ile527=) c.1248T>C (p.Ile416=) n.221+1171A>G | |
7 | g.117559562T>G | CA368984590 | CFTR,CFTR-AS1 | c.1491T>G (p.Ile497Met) c.*1205T>G (n.*1205T>G) c.1308T>G (p.Ile436Met) c.*49T>G (n.*49T>G) c.*1315T>G (n.*1315T>G) c.1065T>G (p.Ile355Met) c.1401T>G (p.Ile467Met) c.1581T>G (p.Ile527Met) c.1248T>G (p.Ile416Met) n.221+1171A>C | |
7 | g.117559563A= | CA1737384505 | CFTR,CFTR-AS1 | c.1492A= (p.Met498=) c.*1206A= (n.*1206A=) c.1309A= (p.Met437=) c.*50A= (n.*50A=) c.*1316A= (n.*1316A=) c.1066A= (p.Met356=) c.1402A= (p.Met468=) c.1582A= (p.Met528=) c.1249A= (p.Met417=) n.221+1170T= | |
7 | g.117559563A>C | CA368984592 | CFTR,CFTR-AS1 | c.1492A>C (p.Met498Leu) c.*1206A>C (n.*1206A>C) c.1309A>C (p.Met437Leu) c.*50A>C (n.*50A>C) c.*1316A>C (n.*1316A>C) c.1066A>C (p.Met356Leu) c.1402A>C (p.Met468Leu) c.1582A>C (p.Met528Leu) c.1249A>C (p.Met417Leu) n.221+1170T>G | |
7 | g.117559563A>G | CA368984594 | CFTR,CFTR-AS1 | c.1492A>G (p.Met498Val) c.*1206A>G (n.*1206A>G) c.1309A>G (p.Met437Val) c.*50A>G (n.*50A>G) c.*1316A>G (n.*1316A>G) c.1066A>G (p.Met356Val) c.1402A>G (p.Met468Val) c.1582A>G (p.Met528Val) c.1249A>G (p.Met417Val) n.221+1170T>C | ClinVar dbSNP gnomAD v4 |
7 | g.117559563A>T | CA368984596 | CFTR,CFTR-AS1 | c.1492A>T (p.Met498Leu) c.*1206A>T (n.*1206A>T) c.1309A>T (p.Met437Leu) c.*50A>T (n.*50A>T) c.*1316A>T (n.*1316A>T) c.1066A>T (p.Met356Leu) c.1402A>T (p.Met468Leu) c.1582A>T (p.Met528Leu) c.1249A>T (p.Met417Leu) n.221+1170T>A | |
7 | g.117559564T>A | CA368984597 | CFTR,CFTR-AS1 | c.1493T>A (p.Met498Lys) c.*1207T>A (n.*1207T>A) c.1310T>A (p.Met437Lys) c.*51T>A (n.*51T>A) c.*1317T>A (n.*1317T>A) c.1067T>A (p.Met356Lys) c.1403T>A (p.Met468Lys) c.1583T>A (p.Met528Lys) c.1250T>A (p.Met417Lys) n.221+1169A>T | |
7 | g.117559564T>C | CA368984599 | CFTR,CFTR-AS1 | c.1493T>C (p.Met498Thr) c.*1207T>C (n.*1207T>C) c.1310T>C (p.Met437Thr) c.*51T>C (n.*51T>C) c.*1317T>C (n.*1317T>C) c.1067T>C (p.Met356Thr) c.1403T>C (p.Met468Thr) c.1583T>C (p.Met528Thr) c.1250T>C (p.Met417Thr) n.221+1169A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117559564T>G | CA368984601 | CFTR,CFTR-AS1 | c.1493T>G (p.Met498Arg) c.*1207T>G (n.*1207T>G) c.1310T>G (p.Met437Arg) c.*51T>G (n.*51T>G) c.*1317T>G (n.*1317T>G) c.1067T>G (p.Met356Arg) c.1403T>G (p.Met468Arg) c.1583T>G (p.Met528Arg) c.1250T>G (p.Met417Arg) n.221+1169A>C | |
7 | g.117559564T= | CA1737384508 | CFTR,CFTR-AS1 | c.1493T= (p.Met498=) c.*1207T= (n.*1207T=) c.1310T= (p.Met437=) c.*51T= (n.*51T=) c.*1317T= (n.*1317T=) c.1067T= (p.Met356=) c.1403T= (p.Met468=) c.1583T= (p.Met528=) c.1250T= (p.Met417=) n.221+1169A= | |
7 | g.117559565G>A | CA368984604 | CFTR,CFTR-AS1 | c.1494G>A (p.Met498Ile) c.*1208G>A (n.*1208G>A) c.1311G>A (p.Met437Ile) c.*52G>A (n.*52G>A) c.*1318G>A (n.*1318G>A) c.1068G>A (p.Met356Ile) c.1404G>A (p.Met468Ile) c.1584G>A (p.Met528Ile) c.1251G>A (p.Met417Ile) n.221+1168C>T | |
7 | g.117559565G>C | CA326505 | CFTR,CFTR-AS1 | c.1494G>C (p.Met498Ile) c.*1208G>C (n.*1208G>C) c.1311G>C (p.Met437Ile) c.*52G>C (n.*52G>C) c.*1318G>C (n.*1318G>C) c.1068G>C (p.Met356Ile) c.1404G>C (p.Met468Ile) c.1584G>C (p.Met528Ile) c.1251G>C (p.Met417Ile) n.221+1168C>G | dbSNP |
7 | g.117559565G= | CA1737384513 | CFTR,CFTR-AS1 | c.1494G= (p.Met498=) c.*1208G= (n.*1208G=) c.1311G= (p.Met437=) c.*52G= (n.*52G=) c.*1318G= (n.*1318G=) c.1068G= (p.Met356=) c.1404G= (p.Met468=) c.1584G= (p.Met528=) c.1251G= (p.Met417=) n.221+1168C= | |
7 | g.117559565G>T | CA368984603 | CFTR,CFTR-AS1 | c.1494G>T (p.Met498Ile) c.*1208G>T (n.*1208G>T) c.1311G>T (p.Met437Ile) c.*52G>T (n.*52G>T) c.*1318G>T (n.*1318G>T) c.1068G>T (p.Met356Ile) c.1404G>T (p.Met468Ile) c.1584G>T (p.Met528Ile) c.1251G>T (p.Met417Ile) n.221+1168C>A | |
7 | g.117559566C>A | CA368984605 | CFTR,CFTR-AS1 | c.1495C>A (p.Pro499Thr) c.*1209C>A (n.*1209C>A) c.1312C>A (p.Pro438Thr) c.*53C>A (n.*53C>A) c.*1319C>A (n.*1319C>A) c.1069C>A (p.Pro357Thr) c.1405C>A (p.Pro469Thr) c.1585C>A (p.Pro529Thr) c.1252C>A (p.Pro418Thr) n.221+1167G>T | ClinVar dbSNP gnomAD v4 |
7 | g.117559566C= | CA1737384520 | CFTR,CFTR-AS1 | c.1495C= (p.Pro499=) c.*1209C= (n.*1209C=) c.1312C= (p.Pro438=) c.*53C= (n.*53C=) c.*1319C= (n.*1319C=) c.1069C= (p.Pro357=) c.1405C= (p.Pro469=) c.1585C= (p.Pro529=) c.1252C= (p.Pro418=) n.221+1167G= | |
7 | g.117559566C>G | CA326507 | CFTR,CFTR-AS1 | c.1495C>G (p.Pro499Ala) c.*1209C>G (n.*1209C>G) c.1312C>G (p.Pro438Ala) c.*53C>G (n.*53C>G) c.*1319C>G (n.*1319C>G) c.1069C>G (p.Pro357Ala) c.1405C>G (p.Pro469Ala) c.1585C>G (p.Pro529Ala) c.1252C>G (p.Pro418Ala) n.221+1167G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117559566C>T | CA368984606 | CFTR,CFTR-AS1 | c.1495C>T (p.Pro499Ser) c.*1209C>T (n.*1209C>T) c.1312C>T (p.Pro438Ser) c.*53C>T (n.*53C>T) c.*1319C>T (n.*1319C>T) c.1069C>T (p.Pro357Ser) c.1405C>T (p.Pro469Ser) c.1585C>T (p.Pro529Ser) c.1252C>T (p.Pro418Ser) n.221+1167G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117559567C>A | CA368984607 | CFTR,CFTR-AS1 | c.1496C>A (p.Pro499His) c.*1210C>A (n.*1210C>A) c.1313C>A (p.Pro438His) c.*54C>A (n.*54C>A) c.*1320C>A (n.*1320C>A) c.1070C>A (p.Pro357His) c.1406C>A (p.Pro469His) c.1586C>A (p.Pro529His) c.1253C>A (p.Pro418His) n.221+1166G>T | |
7 | g.117559567C= | CA1737384526 | CFTR,CFTR-AS1 | c.1496C= (p.Pro499=) c.*1210C= (n.*1210C=) c.1313C= (p.Pro438=) c.*54C= (n.*54C=) c.*1320C= (n.*1320C=) c.1070C= (p.Pro357=) c.1406C= (p.Pro469=) c.1586C= (p.Pro529=) c.1253C= (p.Pro418=) n.221+1166G= | |
7 | g.117559567C>G | CA368984611 | CFTR,CFTR-AS1 | c.1496C>G (p.Pro499Arg) c.*1210C>G (n.*1210C>G) c.1313C>G (p.Pro438Arg) c.*54C>G (n.*54C>G) c.*1320C>G (n.*1320C>G) c.1070C>G (p.Pro357Arg) c.1406C>G (p.Pro469Arg) c.1586C>G (p.Pro529Arg) c.1253C>G (p.Pro418Arg) n.221+1166G>C | |
7 | g.117559567C>T | CA368984613 | CFTR,CFTR-AS1 | c.1496C>T (p.Pro499Leu) c.*1210C>T (n.*1210C>T) c.1313C>T (p.Pro438Leu) c.*54C>T (n.*54C>T) c.*1320C>T (n.*1320C>T) c.1070C>T (p.Pro357Leu) c.1406C>T (p.Pro469Leu) c.1586C>T (p.Pro529Leu) c.1253C>T (p.Pro418Leu) n.221+1166G>A | ClinVar dbSNP |
7 | g.117559568T>A | CA457228827 | CFTR,CFTR-AS1 | c.1497T>A (p.Pro499=) c.*1211T>A (n.*1211T>A) c.1314T>A (p.Pro438=) c.*55T>A (n.*55T>A) c.*1321T>A (n.*1321T>A) c.1071T>A (p.Pro357=) c.1407T>A (p.Pro469=) c.1587T>A (p.Pro529=) c.1254T>A (p.Pro418=) n.221+1165A>T | |
7 | g.117559568T>C | CA457228829 | CFTR,CFTR-AS1 | c.1497T>C (p.Pro499=) c.*1211T>C (n.*1211T>C) c.1314T>C (p.Pro438=) c.*55T>C (n.*55T>C) c.*1321T>C (n.*1321T>C) c.1071T>C (p.Pro357=) c.1407T>C (p.Pro469=) c.1587T>C (p.Pro529=) c.1254T>C (p.Pro418=) n.221+1165A>G | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117559568T>G | CA457228830 | CFTR,CFTR-AS1 | c.1497T>G (p.Pro499=) c.*1211T>G (n.*1211T>G) c.1314T>G (p.Pro438=) c.*55T>G (n.*55T>G) c.*1321T>G (n.*1321T>G) c.1071T>G (p.Pro357=) c.1407T>G (p.Pro469=) c.1587T>G (p.Pro529=) c.1254T>G (p.Pro418=) n.221+1165A>C | |
7 | g.117559568T= | CA1737384531 | CFTR,CFTR-AS1 | c.1497T= (p.Pro499=) c.*1211T= (n.*1211T=) c.1314T= (p.Pro438=) c.*55T= (n.*55T=) c.*1321T= (n.*1321T=) c.1071T= (p.Pro357=) c.1407T= (p.Pro469=) c.1587T= (p.Pro529=) c.1254T= (p.Pro418=) n.221+1165A= | |
7 | g.117559569G>A | CA368984616 | CFTR,CFTR-AS1 | c.1498G>A (p.Gly500Ser) c.*1212G>A (n.*1212G>A) c.1315G>A (p.Gly439Ser) c.*56G>A (n.*56G>A) c.*1322G>A (n.*1322G>A) c.1072G>A (p.Gly358Ser) c.1408G>A (p.Gly470Ser) c.1588G>A (p.Gly530Ser) c.1255G>A (p.Gly419Ser) n.221+1164C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117559569G>C | CA368984619 | CFTR,CFTR-AS1 | c.1498G>C (p.Gly500Arg) c.*1212G>C (n.*1212G>C) c.1315G>C (p.Gly439Arg) c.*56G>C (n.*56G>C) c.*1322G>C (n.*1322G>C) c.1072G>C (p.Gly358Arg) c.1408G>C (p.Gly470Arg) c.1588G>C (p.Gly530Arg) c.1255G>C (p.Gly419Arg) n.221+1164C>G | |
7 | g.117559569G= | CA1737384535 | CFTR,CFTR-AS1 | c.1498G= (p.Gly500=) c.*1212G= (n.*1212G=) c.1315G= (p.Gly439=) c.*56G= (n.*56G=) c.*1322G= (n.*1322G=) c.1072G= (p.Gly358=) c.1408G= (p.Gly470=) c.1588G= (p.Gly530=) c.1255G= (p.Gly419=) n.221+1164C= | |
7 | g.117559569G>T | CA368984625 | CFTR,CFTR-AS1 | c.1498G>T (p.Gly500Cys) c.*1212G>T (n.*1212G>T) c.1315G>T (p.Gly439Cys) c.*56G>T (n.*56G>T) c.*1322G>T (n.*1322G>T) c.1072G>T (p.Gly358Cys) c.1408G>T (p.Gly470Cys) c.1588G>T (p.Gly530Cys) c.1255G>T (p.Gly419Cys) n.221+1164C>A | |
7 | g.117559570G>A | CA4451011 | CFTR,CFTR-AS1 | c.1499G>A (p.Gly500Asp) c.*1213G>A (n.*1213G>A) c.1316G>A (p.Gly439Asp) c.*57G>A (n.*57G>A) c.*1323G>A (n.*1323G>A) c.1073G>A (p.Gly358Asp) c.1409G>A (p.Gly470Asp) c.1589G>A (p.Gly530Asp) c.1256G>A (p.Gly419Asp) n.221+1163C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117559570G>C | CA368984628 | CFTR,CFTR-AS1 | c.1499G>C (p.Gly500Ala) c.*1213G>C (n.*1213G>C) c.1316G>C (p.Gly439Ala) c.*57G>C (n.*57G>C) c.*1323G>C (n.*1323G>C) c.1073G>C (p.Gly358Ala) c.1409G>C (p.Gly470Ala) c.1589G>C (p.Gly530Ala) c.1256G>C (p.Gly419Ala) n.221+1163C>G | |
7 | g.117559570G= | CA1737384542 | CFTR,CFTR-AS1 | c.1499G= (p.Gly500=) c.*1213G= (n.*1213G=) c.1316G= (p.Gly439=) c.*57G= (n.*57G=) c.*1323G= (n.*1323G=) c.1073G= (p.Gly358=) c.1409G= (p.Gly470=) c.1589G= (p.Gly530=) c.1256G= (p.Gly419=) n.221+1163C= | |
7 | g.117559570G>T | CA368984629 | CFTR,CFTR-AS1 | c.1499G>T (p.Gly500Val) c.*1213G>T (n.*1213G>T) c.1316G>T (p.Gly439Val) c.*57G>T (n.*57G>T) c.*1323G>T (n.*1323G>T) c.1073G>T (p.Gly358Val) c.1409G>T (p.Gly470Val) c.1589G>T (p.Gly530Val) c.1256G>T (p.Gly419Val) n.221+1163C>A | |
7 | g.117559571C>A | CA4451012 | CFTR,CFTR-AS1 | c.1500C>A (p.Gly500=) c.*1214C>A (n.*1214C>A) c.1317C>A (p.Gly439=) c.*58C>A (n.*58C>A) c.*1324C>A (n.*1324C>A) c.1074C>A (p.Gly358=) c.1410C>A (p.Gly470=) c.1590C>A (p.Gly530=) c.1257C>A (p.Gly419=) n.221+1162G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.117559571C= | CA1737384550 | CFTR,CFTR-AS1 | c.1500C= (p.Gly500=) c.*1214C= (n.*1214C=) c.1317C= (p.Gly439=) c.*58C= (n.*58C=) c.*1324C= (n.*1324C=) c.1074C= (p.Gly358=) c.1410C= (p.Gly470=) c.1590C= (p.Gly530=) c.1257C= (p.Gly419=) n.221+1162G= | |
7 | g.117559571C>G | CA457228834 | CFTR,CFTR-AS1 | c.1500C>G (p.Gly500=) c.*1214C>G (n.*1214C>G) c.1317C>G (p.Gly439=) c.*58C>G (n.*58C>G) c.*1324C>G (n.*1324C>G) c.1074C>G (p.Gly358=) c.1410C>G (p.Gly470=) c.1590C>G (p.Gly530=) c.1257C>G (p.Gly419=) n.221+1162G>C | ClinVar |
7 | g.117559571C>T | CA457228835 | CFTR,CFTR-AS1 | c.1500C>T (p.Gly500=) c.*1214C>T (n.*1214C>T) c.1317C>T (p.Gly439=) c.*58C>T (n.*58C>T) c.*1324C>T (n.*1324C>T) c.1074C>T (p.Gly358=) c.1410C>T (p.Gly470=) c.1590C>T (p.Gly530=) c.1257C>T (p.Gly419=) n.221+1162G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117559572A= | CA1737384554 | CFTR,CFTR-AS1 | c.1501A= (p.Thr501=) c.*1215A= (n.*1215A=) c.1318A= (p.Thr440=) c.*59A= (n.*59A=) c.*1325A= (n.*1325A=) c.1075A= (p.Thr359=) c.1411A= (p.Thr471=) c.1591A= (p.Thr531=) c.1258A= (p.Thr420=) n.221+1161T= | |
7 | g.117559572A>C | CA368984632 | CFTR,CFTR-AS1 | c.1501A>C (p.Thr501Pro) c.*1215A>C (n.*1215A>C) c.1318A>C (p.Thr440Pro) c.*59A>C (n.*59A>C) c.*1325A>C (n.*1325A>C) c.1075A>C (p.Thr359Pro) c.1411A>C (p.Thr471Pro) c.1591A>C (p.Thr531Pro) c.1258A>C (p.Thr420Pro) n.221+1161T>G | |
7 | g.117559572A>G | CA326510 | CFTR,CFTR-AS1 | c.1501A>G (p.Thr501Ala) c.*1215A>G (n.*1215A>G) c.1318A>G (p.Thr440Ala) c.*59A>G (n.*59A>G) c.*1325A>G (n.*1325A>G) c.1075A>G (p.Thr359Ala) c.1411A>G (p.Thr471Ala) c.1591A>G (p.Thr531Ala) c.1258A>G (p.Thr420Ala) n.221+1161T>C | ClinVar dbSNP |
7 | g.117559572A>T | CA368984631 | CFTR,CFTR-AS1 | c.1501A>T (p.Thr501Ser) c.*1215A>T (n.*1215A>T) c.1318A>T (p.Thr440Ser) c.*59A>T (n.*59A>T) c.*1325A>T (n.*1325A>T) c.1075A>T (p.Thr359Ser) c.1411A>T (p.Thr471Ser) c.1591A>T (p.Thr531Ser) c.1258A>T (p.Thr420Ser) n.221+1161T>A | |
7 | g.117559573C>A | CA368984635 | CFTR,CFTR-AS1 | c.1502C>A (p.Thr501Asn) c.*1216C>A (n.*1216C>A) c.1319C>A (p.Thr440Asn) c.*60C>A (n.*60C>A) c.*1326C>A (n.*1326C>A) c.1076C>A (p.Thr359Asn) c.1412C>A (p.Thr471Asn) c.1592C>A (p.Thr531Asn) c.1259C>A (p.Thr420Asn) n.221+1160G>T | |
7 | g.117559573C= | CA1737384559 | CFTR,CFTR-AS1 | c.1502C= (p.Thr501=) c.*1216C= (n.*1216C=) c.1319C= (p.Thr440=) c.*60C= (n.*60C=) c.*1326C= (n.*1326C=) c.1076C= (p.Thr359=) c.1412C= (p.Thr471=) c.1592C= (p.Thr531=) c.1259C= (p.Thr420=) n.221+1160G= | |
7 | g.117559573C>G | CA368984633 | CFTR,CFTR-AS1 | c.1502C>G (p.Thr501Ser) c.*1216C>G (n.*1216C>G) c.1319C>G (p.Thr440Ser) c.*60C>G (n.*60C>G) c.*1326C>G (n.*1326C>G) c.1076C>G (p.Thr359Ser) c.1412C>G (p.Thr471Ser) c.1592C>G (p.Thr531Ser) c.1259C>G (p.Thr420Ser) n.221+1160G>C | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117559573C>T | CA368984637 | CFTR,CFTR-AS1 | c.1502C>T (p.Thr501Ile) c.*1216C>T (n.*1216C>T) c.1319C>T (p.Thr440Ile) c.*60C>T (n.*60C>T) c.*1326C>T (n.*1326C>T) c.1076C>T (p.Thr359Ile) c.1412C>T (p.Thr471Ile) c.1592C>T (p.Thr531Ile) c.1259C>T (p.Thr420Ile) n.221+1160G>A | ClinVar dbSNP |
7 | g.117559574C>A | CA457228840 | CFTR,CFTR-AS1 | c.1503C>A (p.Thr501=) c.*1217C>A (n.*1217C>A) c.1320C>A (p.Thr440=) c.*61C>A (n.*61C>A) c.*1327C>A (n.*1327C>A) c.1077C>A (p.Thr359=) c.1413C>A (p.Thr471=) c.1593C>A (p.Thr531=) c.1260C>A (p.Thr420=) n.221+1159G>T | |
7 | g.117559574C>G | CA457228842 | CFTR,CFTR-AS1 | c.1503C>G (p.Thr501=) c.*1217C>G (n.*1217C>G) c.1320C>G (p.Thr440=) c.*61C>G (n.*61C>G) c.*1327C>G (n.*1327C>G) c.1077C>G (p.Thr359=) c.1413C>G (p.Thr471=) c.1593C>G (p.Thr531=) c.1260C>G (p.Thr420=) n.221+1159G>C | |
7 | g.117559574C>T | CA457228841 | CFTR,CFTR-AS1 | c.1503C>T (p.Thr501=) c.*1217C>T (n.*1217C>T) c.1320C>T (p.Thr440=) c.*61C>T (n.*61C>T) c.*1327C>T (n.*1327C>T) c.1077C>T (p.Thr359=) c.1413C>T (p.Thr471=) c.1593C>T (p.Thr531=) c.1260C>T (p.Thr420=) n.221+1159G>A | ClinVar |
7 | g.117559575A= | CA1737384561 | CFTR,CFTR-AS1 | c.1504A= (p.Ile502=) c.*1218A= (n.*1218A=) c.1321A= (p.Ile441=) c.*62A= (n.*62A=) c.*1328A= (n.*1328A=) c.1078A= (p.Ile360=) c.1414A= (p.Ile472=) c.1594A= (p.Ile532=) c.1261A= (p.Ile421=) n.221+1158T= | |
7 | g.117559575A>C | CA368984639 | CFTR,CFTR-AS1 | c.1504A>C (p.Ile502Leu) c.*1218A>C (n.*1218A>C) c.1321A>C (p.Ile441Leu) c.*62A>C (n.*62A>C) c.*1328A>C (n.*1328A>C) c.1078A>C (p.Ile360Leu) c.1414A>C (p.Ile472Leu) c.1594A>C (p.Ile532Leu) c.1261A>C (p.Ile421Leu) n.221+1158T>G | |
7 | g.117559575A>G | CA4451013 | CFTR,CFTR-AS1 | c.1504A>G (p.Ile502Val) c.*1218A>G (n.*1218A>G) c.1321A>G (p.Ile441Val) c.*62A>G (n.*62A>G) c.*1328A>G (n.*1328A>G) c.1078A>G (p.Ile360Val) c.1414A>G (p.Ile472Val) c.1594A>G (p.Ile532Val) c.1261A>G (p.Ile421Val) n.221+1158T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117559575A>T | CA368984640 | CFTR,CFTR-AS1 | c.1504A>T (p.Ile502Phe) c.*1218A>T (n.*1218A>T) c.1321A>T (p.Ile441Phe) c.*62A>T (n.*62A>T) c.*1328A>T (n.*1328A>T) c.1078A>T (p.Ile360Phe) c.1414A>T (p.Ile472Phe) c.1594A>T (p.Ile532Phe) c.1261A>T (p.Ile421Phe) n.221+1158T>A | |
7 | g.117559576T>A | CA326512 | CFTR,CFTR-AS1 | c.1505T>A (p.Ile502Asn) c.*1219T>A (n.*1219T>A) c.1322T>A (p.Ile441Asn) c.*63T>A (n.*63T>A) c.*1329T>A (n.*1329T>A) c.1079T>A (p.Ile360Asn) c.1415T>A (p.Ile472Asn) c.1595T>A (p.Ile532Asn) c.1262T>A (p.Ile421Asn) n.221+1157A>T | ClinVar dbSNP |
7 | g.117559576T>C | CA326514 | CFTR,CFTR-AS1 | c.1505T>C (p.Ile502Thr) c.*1219T>C (n.*1219T>C) c.1322T>C (p.Ile441Thr) c.*63T>C (n.*63T>C) c.*1329T>C (n.*1329T>C) c.1079T>C (p.Ile360Thr) c.1415T>C (p.Ile472Thr) c.1595T>C (p.Ile532Thr) c.1262T>C (p.Ile421Thr) n.221+1157A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117559576T>G | CA368984642 | CFTR,CFTR-AS1 | c.1505T>G (p.Ile502Ser) c.*1219T>G (n.*1219T>G) c.1322T>G (p.Ile441Ser) c.*63T>G (n.*63T>G) c.*1329T>G (n.*1329T>G) c.1079T>G (p.Ile360Ser) c.1415T>G (p.Ile472Ser) c.1595T>G (p.Ile532Ser) c.1262T>G (p.Ile421Ser) n.221+1157A>C | ClinVar dbSNP |
7 | g.117559576T= | CA1737384567 | CFTR,CFTR-AS1 | c.1505T= (p.Ile502=) c.*1219T= (n.*1219T=) c.1322T= (p.Ile441=) c.*63T= (n.*63T=) c.*1329T= (n.*1329T=) c.1079T= (p.Ile360=) c.1415T= (p.Ile472=) c.1595T= (p.Ile532=) c.1262T= (p.Ile421=) n.221+1157A= | |
7 | g.117559577T>A | CA457228846 | CFTR,CFTR-AS1 | c.1506T>A (p.Ile502=) c.*1220T>A (n.*1220T>A) c.1323T>A (p.Ile441=) c.*64T>A (n.*64T>A) c.*1330T>A (n.*1330T>A) c.1080T>A (p.Ile360=) c.1416T>A (p.Ile472=) c.1596T>A (p.Ile532=) c.1263T>A (p.Ile421=) n.221+1156A>T | |
7 | g.117559577T>C | CA457228847 | CFTR,CFTR-AS1 | c.1506T>C (p.Ile502=) c.*1220T>C (n.*1220T>C) c.1323T>C (p.Ile441=) c.*64T>C (n.*64T>C) c.*1330T>C (n.*1330T>C) c.1080T>C (p.Ile360=) c.1416T>C (p.Ile472=) c.1596T>C (p.Ile532=) c.1263T>C (p.Ile421=) n.221+1156A>G | |
7 | g.117559577T>G | CA368984649 | CFTR,CFTR-AS1 | c.1506T>G (p.Ile502Met) c.*1220T>G (n.*1220T>G) c.1323T>G (p.Ile441Met) c.*64T>G (n.*64T>G) c.*1330T>G (n.*1330T>G) c.1080T>G (p.Ile360Met) c.1416T>G (p.Ile472Met) c.1596T>G (p.Ile532Met) c.1263T>G (p.Ile421Met) n.221+1156A>C | gnomAD v4 |
7 | g.117559578A>C | CA368984652 | CFTR,CFTR-AS1 | c.1507A>C (p.Lys503Gln) c.*1221A>C (n.*1221A>C) c.1324A>C (p.Lys442Gln) c.*65A>C (n.*65A>C) c.*1331A>C (n.*1331A>C) c.1081A>C (p.Lys361Gln) c.1417A>C (p.Lys473Gln) c.1597A>C (p.Lys533Gln) c.1264A>C (p.Lys422Gln) n.221+1155T>G | |
7 | g.117559578A>G | CA368984655 | CFTR,CFTR-AS1 | c.1507A>G (p.Lys503Glu) c.*1221A>G (n.*1221A>G) c.1324A>G (p.Lys442Glu) c.*65A>G (n.*65A>G) c.*1331A>G (n.*1331A>G) c.1081A>G (p.Lys361Glu) c.1417A>G (p.Lys473Glu) c.1597A>G (p.Lys533Glu) c.1264A>G (p.Lys422Glu) n.221+1155T>C | ClinVar gnomAD v4 |
7 | g.117559578A>T | CA368984657 | CFTR,CFTR-AS1 | c.1507A>T (p.Lys503Ter) c.*1221A>T (n.*1221A>T) c.1324A>T (p.Lys442Ter) c.*65A>T (n.*65A>T) c.*1331A>T (n.*1331A>T) c.1081A>T (p.Lys361Ter) c.1417A>T (p.Lys473Ter) c.1597A>T (p.Lys533Ter) c.1264A>T (p.Lys422Ter) n.221+1155T>A | |
7 | g.117559579A>C | CA368984659 | CFTR,CFTR-AS1 | c.1508A>C (p.Lys503Thr) c.*1222A>C (n.*1222A>C) c.1325A>C (p.Lys442Thr) c.*66A>C (n.*66A>C) c.*1332A>C (n.*1332A>C) c.1082A>C (p.Lys361Thr) c.1418A>C (p.Lys473Thr) c.1598A>C (p.Lys533Thr) c.1265A>C (p.Lys422Thr) n.221+1154T>G | |
7 | g.117559579A>G | CA368984661 | CFTR,CFTR-AS1 | c.1508A>G (p.Lys503Arg) c.*1222A>G (n.*1222A>G) c.1325A>G (p.Lys442Arg) c.*66A>G (n.*66A>G) c.*1332A>G (n.*1332A>G) c.1082A>G (p.Lys361Arg) c.1418A>G (p.Lys473Arg) c.1598A>G (p.Lys533Arg) c.1265A>G (p.Lys422Arg) n.221+1154T>C | |
7 | g.117559579A>T | CA368984663 | CFTR,CFTR-AS1 | c.1508A>T (p.Lys503Ile) c.*1222A>T (n.*1222A>T) c.1325A>T (p.Lys442Ile) c.*66A>T (n.*66A>T) c.*1332A>T (n.*1332A>T) c.1082A>T (p.Lys361Ile) c.1418A>T (p.Lys473Ile) c.1598A>T (p.Lys533Ile) c.1265A>T (p.Lys422Ile) n.221+1154T>A | |
7 | g.117559580A>C | CA368984664 | CFTR,CFTR-AS1 | c.1509A>C (p.Lys503Asn) c.*1223A>C (n.*1223A>C) c.1326A>C (p.Lys442Asn) c.*67A>C (n.*67A>C) c.*1333A>C (n.*1333A>C) c.1083A>C (p.Lys361Asn) c.1419A>C (p.Lys473Asn) c.1599A>C (p.Lys533Asn) c.1266A>C (p.Lys422Asn) n.221+1153T>G | |
7 | g.117559580A>G | CA457228851 | CFTR,CFTR-AS1 | c.1509A>G (p.Lys503=) c.*1223A>G (n.*1223A>G) c.1326A>G (p.Lys442=) c.*67A>G (n.*67A>G) c.*1333A>G (n.*1333A>G) c.1083A>G (p.Lys361=) c.1419A>G (p.Lys473=) c.1599A>G (p.Lys533=) c.1266A>G (p.Lys422=) n.221+1153T>C | ClinVar |
7 | g.117559580A>T | CA368984666 | CFTR,CFTR-AS1 | c.1509A>T (p.Lys503Asn) c.*1223A>T (n.*1223A>T) c.1326A>T (p.Lys442Asn) c.*67A>T (n.*67A>T) c.*1333A>T (n.*1333A>T) c.1083A>T (p.Lys361Asn) c.1419A>T (p.Lys473Asn) c.1599A>T (p.Lys533Asn) c.1266A>T (p.Lys422Asn) n.221+1153T>A | |
7 | g.117559580_117559581delinsT | CA2695208323 | CFTR,CFTR-AS1 | c.1509_1510delinsT (p.Lys503AsnfsTer24) c.*1223_*1224delinsT (n.*1223_*1224delinsT) c.1326_1327delinsT (p.Lys442AsnfsTer24) c.*67_*68delinsT (n.*67_*68delinsT) c.*1333_*1334delinsT (n.*1333_*1334delinsT) c.1083_1084delinsT (p.Lys361AsnfsTer24) c.1419_1420delinsT (p.Lys473AsnfsTer24) c.1599_1600delinsT (p.Lys533AsnfsTer24) c.1266_1267delinsT (p.Lys422AsnfsTer24) n.221+1152_221+1153delinsA | |
7 | g.117559581G>A | CA368984667 | CFTR,CFTR-AS1 | c.1510G>A (p.Glu504Lys) c.*1224G>A (n.*1224G>A) c.1327G>A (p.Glu443Lys) c.*68G>A (n.*68G>A) c.*1334G>A (n.*1334G>A) c.1084G>A (p.Glu362Lys) c.1420G>A (p.Glu474Lys) c.1600G>A (p.Glu534Lys) c.1267G>A (p.Glu423Lys) n.221+1152C>T | COSMIC |
7 | g.117559581G>C | CA326516 | CFTR,CFTR-AS1 | c.1510G>C (p.Glu504Gln) c.*1224G>C (n.*1224G>C) c.1327G>C (p.Glu443Gln) c.*68G>C (n.*68G>C) c.*1334G>C (n.*1334G>C) c.1084G>C (p.Glu362Gln) c.1420G>C (p.Glu474Gln) c.1600G>C (p.Glu534Gln) c.1267G>C (p.Glu423Gln) n.221+1152C>G | ClinVar dbSNP |
7 | g.117559581G= | CA1737384583 | CFTR,CFTR-AS1 | c.1510G= (p.Glu504=) c.*1224G= (n.*1224G=) c.1327G= (p.Glu443=) c.*68G= (n.*68G=) c.*1334G= (n.*1334G=) c.1084G= (p.Glu362=) c.1420G= (p.Glu474=) c.1600G= (p.Glu534=) c.1267G= (p.Glu423=) n.221+1152C= | |
7 | g.117559581G>T | CA326517 | CFTR,CFTR-AS1 | c.1510G>T (p.Glu504Ter) c.*1224G>T (n.*1224G>T) c.1327G>T (p.Glu443Ter) c.*68G>T (n.*68G>T) c.*1334G>T (n.*1334G>T) c.1084G>T (p.Glu362Ter) c.1420G>T (p.Glu474Ter) c.1600G>T (p.Glu534Ter) c.1267G>T (p.Glu423Ter) n.221+1152C>A | ClinVar dbSNP |
7 | g.117559582A>C | CA368984668 | CFTR,CFTR-AS1 | c.1511A>C (p.Glu504Ala) c.*1225A>C (n.*1225A>C) c.1328A>C (p.Glu443Ala) c.*69A>C (n.*69A>C) c.*1335A>C (n.*1335A>C) c.1085A>C (p.Glu362Ala) c.1421A>C (p.Glu474Ala) c.1601A>C (p.Glu534Ala) c.1268A>C (p.Glu423Ala) n.221+1151T>G | |
7 | g.117559582A>G | CA368984669 | CFTR,CFTR-AS1 | c.1511A>G (p.Glu504Gly) c.*1225A>G (n.*1225A>G) c.1328A>G (p.Glu443Gly) c.*69A>G (n.*69A>G) c.*1335A>G (n.*1335A>G) c.1085A>G (p.Glu362Gly) c.1421A>G (p.Glu474Gly) c.1601A>G (p.Glu534Gly) c.1268A>G (p.Glu423Gly) n.221+1151T>C | |
7 | g.117559582A>T | CA368984672 | CFTR,CFTR-AS1 | c.1511A>T (p.Glu504Val) c.*1225A>T (n.*1225A>T) c.1328A>T (p.Glu443Val) c.*69A>T (n.*69A>T) c.*1335A>T (n.*1335A>T) c.1085A>T (p.Glu362Val) c.1421A>T (p.Glu474Val) c.1601A>T (p.Glu534Val) c.1268A>T (p.Glu423Val) n.221+1151T>A | |
7 | g.117559585del | CA2695208324 | CFTR,CFTR-AS1 | c.1514del (p.Asn505IlefsTer22) c.*1228del (n.*1228del) c.1331del (p.Asn444IlefsTer22) c.*72del (n.*72del) c.*1338del (n.*1338del) c.1088del (p.Asn363IlefsTer22) c.1424del (p.Asn475IlefsTer22) c.1604del (p.Asn535IlefsTer22) c.1271del (p.Asn424IlefsTer22) n.221+1151del | |
7 | g.117559583A>C | CA368984673 | CFTR,CFTR-AS1 | c.1512A>C (p.Glu504Asp) c.*1226A>C (n.*1226A>C) c.1329A>C (p.Glu443Asp) c.*70A>C (n.*70A>C) c.*1336A>C (n.*1336A>C) c.1086A>C (p.Glu362Asp) c.1422A>C (p.Glu474Asp) c.1602A>C (p.Glu534Asp) c.1269A>C (p.Glu423Asp) n.221+1150T>G | |
7 | g.117559583A>G | CA457228855 | CFTR,CFTR-AS1 | c.1512A>G (p.Glu504=) c.*1226A>G (n.*1226A>G) c.1329A>G (p.Glu443=) c.*70A>G (n.*70A>G) c.*1336A>G (n.*1336A>G) c.1086A>G (p.Glu362=) c.1422A>G (p.Glu474=) c.1602A>G (p.Glu534=) c.1269A>G (p.Glu423=) n.221+1150T>C | |
7 | g.117559583A>T | CA368984675 | CFTR,CFTR-AS1 | c.1512A>T (p.Glu504Asp) c.*1226A>T (n.*1226A>T) c.1329A>T (p.Glu443Asp) c.*70A>T (n.*70A>T) c.*1336A>T (n.*1336A>T) c.1086A>T (p.Glu362Asp) c.1422A>T (p.Glu474Asp) c.1602A>T (p.Glu534Asp) c.1269A>T (p.Glu423Asp) n.221+1150T>A | |
7 | g.117559583_117559594del | CA2580611908 | CFTR,CFTR-AS1 | c.1512_1523del (p.Glu504_Phe508delinsAsp) c.*1226_*1237del (n.*1226_*1237del) c.1329_1340del (p.Glu443_Phe447delinsAsp) c.*70_*81del (n.*70_*81del) c.*1336_*1347del (n.*1336_*1347del) c.1086_1097del (p.Glu362_Phe366delinsAsp) c.1422_1433del (p.Glu474_Phe478delinsAsp) c.1602_1613del (p.Glu534_Phe538delinsAsp) c.1269_1280del (p.Glu423_Phe427delinsAsp) n.221+1139_221+1150del | |
7 | g.117559584A>C | CA368984677 | CFTR,CFTR-AS1 | c.1513A>C (p.Asn505His) c.*1227A>C (n.*1227A>C) c.1330A>C (p.Asn444His) c.*71A>C (n.*71A>C) c.*1337A>C (n.*1337A>C) c.1087A>C (p.Asn363His) c.1423A>C (p.Asn475His) c.1603A>C (p.Asn535His) c.1270A>C (p.Asn424His) n.221+1149T>G | |
7 | g.117559584A>G | CA368984678 | CFTR,CFTR-AS1 | c.1513A>G (p.Asn505Asp) c.*1227A>G (n.*1227A>G) c.1330A>G (p.Asn444Asp) c.*71A>G (n.*71A>G) c.*1337A>G (n.*1337A>G) c.1087A>G (p.Asn363Asp) c.1423A>G (p.Asn475Asp) c.1603A>G (p.Asn535Asp) c.1270A>G (p.Asn424Asp) n.221+1149T>C | |
7 | g.117559584A>T | CA368984680 | CFTR,CFTR-AS1 | c.1513A>T (p.Asn505Tyr) c.*1227A>T (n.*1227A>T) c.1330A>T (p.Asn444Tyr) c.*71A>T (n.*71A>T) c.*1337A>T (n.*1337A>T) c.1087A>T (p.Asn363Tyr) c.1423A>T (p.Asn475Tyr) c.1603A>T (p.Asn535Tyr) c.1270A>T (p.Asn424Tyr) n.221+1149T>A | |
7 | g.117559585A>C | CA368984687 | CFTR,CFTR-AS1 | c.1514A>C (p.Asn505Thr) c.*1228A>C (n.*1228A>C) c.1331A>C (p.Asn444Thr) c.*72A>C (n.*72A>C) c.*1338A>C (n.*1338A>C) c.1088A>C (p.Asn363Thr) c.1424A>C (p.Asn475Thr) c.1604A>C (p.Asn535Thr) c.1271A>C (p.Asn424Thr) n.221+1148T>G | |
7 | g.117559585A>G | CA368984689 | CFTR,CFTR-AS1 | c.1514A>G (p.Asn505Ser) c.*1228A>G (n.*1228A>G) c.1331A>G (p.Asn444Ser) c.*72A>G (n.*72A>G) c.*1338A>G (n.*1338A>G) c.1088A>G (p.Asn363Ser) c.1424A>G (p.Asn475Ser) c.1604A>G (p.Asn535Ser) c.1271A>G (p.Asn424Ser) n.221+1148T>C | |
7 | g.117559585A>T | CA368984690 | CFTR,CFTR-AS1 | c.1514A>T (p.Asn505Ile) c.*1228A>T (n.*1228A>T) c.1331A>T (p.Asn444Ile) c.*72A>T (n.*72A>T) c.*1338A>T (n.*1338A>T) c.1088A>T (p.Asn363Ile) c.1424A>T (p.Asn475Ile) c.1604A>T (p.Asn535Ile) c.1271A>T (p.Asn424Ile) n.221+1148T>A | |
7 | g.117559587_117559591dup | CA2695208325 | CFTR,CFTR-AS1 | c.1516_1520dup (p.Phe508SerfsTer21) c.*1230_*1234dup (n.*1230_*1234dup) c.1333_1337dup (p.Phe447SerfsTer21) c.*74_*78dup (n.*74_*78dup) c.*1340_*1344dup (n.*1340_*1344dup) c.1090_1094dup (p.Phe366SerfsTer21) c.1426_1430dup (p.Phe478SerfsTer21) c.1606_1610dup (p.Phe538SerfsTer21) c.1273_1277dup (p.Phe427SerfsTer21) n.221+1144_221+1148dup | |
7 | g.117559586T>A | CA368984695 | CFTR,CFTR-AS1 | c.1515T>A (p.Asn505Lys) c.*1229T>A (n.*1229T>A) c.1332T>A (p.Asn444Lys) c.*73T>A (n.*73T>A) c.*1339T>A (n.*1339T>A) c.1089T>A (p.Asn363Lys) c.1425T>A (p.Asn475Lys) c.1605T>A (p.Asn535Lys) c.1272T>A (p.Asn424Lys) n.221+1147A>T | |
7 | g.117559586T>C | CA457228858 | CFTR,CFTR-AS1 | c.1515T>C (p.Asn505=) c.*1229T>C (n.*1229T>C) c.1332T>C (p.Asn444=) c.*73T>C (n.*73T>C) c.*1339T>C (n.*1339T>C) c.1089T>C (p.Asn363=) c.1425T>C (p.Asn475=) c.1605T>C (p.Asn535=) c.1272T>C (p.Asn424=) n.221+1147A>G | ClinVar |
7 | g.117559586T>G | CA368984696 | CFTR,CFTR-AS1 | c.1515T>G (p.Asn505Lys) c.*1229T>G (n.*1229T>G) c.1332T>G (p.Asn444Lys) c.*73T>G (n.*73T>G) c.*1339T>G (n.*1339T>G) c.1089T>G (p.Asn363Lys) c.1425T>G (p.Asn475Lys) c.1605T>G (p.Asn535Lys) c.1272T>G (p.Asn424Lys) n.221+1147A>C | |
7 | g.117559586_117559589delinsTATC | CA1737384592 | CFTR,CFTR-AS1 | c.1515_1518delinsTATC (p.Asn505=) c.*1229_*1232delinsTATC (n.*1229_*1232delinsTATC) c.1332_1335delinsTATC (p.Asn444=) c.*73_*76delinsTATC (n.*73_*76delinsTATC) c.*1339_*1342delinsTATC (n.*1339_*1342delinsTATC) c.1089_1092delinsTATC (p.Asn363=) c.1425_1428delinsTATC (p.Asn475=) c.1605_1608delinsTATC (p.Asn535=) c.1272_1275delinsTATC (p.Asn424=) n.221+1144_221+1147delinsGATA | |
7 | g.117559587A= | CA1737384615 | CFTR,CFTR-AS1 | c.1516A= (p.Ile506=) c.*1230A= (n.*1230A=) c.1333A= (p.Ile445=) c.*74A= (n.*74A=) c.*1340A= (n.*1340A=) c.1090A= (p.Ile364=) c.1426A= (p.Ile476=) c.1606A= (p.Ile536=) c.1273A= (p.Ile425=) n.221+1146T= | |
7 | g.117559587A>C | CA326519 | CFTR,CFTR-AS1 | c.1516A>C (p.Ile506Leu) c.*1230A>C (n.*1230A>C) c.1333A>C (p.Ile445Leu) c.*74A>C (n.*74A>C) c.*1340A>C (n.*1340A>C) c.1090A>C (p.Ile364Leu) c.1426A>C (p.Ile476Leu) c.1606A>C (p.Ile536Leu) c.1273A>C (p.Ile425Leu) n.221+1146T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117559587A>G | CA254110 | CFTR,CFTR-AS1 | c.1516A>G (p.Ile506Val) c.*1230A>G (n.*1230A>G) c.1333A>G (p.Ile445Val) c.*74A>G (n.*74A>G) c.*1340A>G (n.*1340A>G) c.1090A>G (p.Ile364Val) c.1426A>G (p.Ile476Val) c.1606A>G (p.Ile536Val) c.1273A>G (p.Ile425Val) n.221+1146T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117559587A>T | CA368984703 | CFTR,CFTR-AS1 | c.1516A>T (p.Ile506Phe) c.*1230A>T (n.*1230A>T) c.1333A>T (p.Ile445Phe) c.*74A>T (n.*74A>T) c.*1340A>T (n.*1340A>T) c.1090A>T (p.Ile364Phe) c.1426A>T (p.Ile476Phe) c.1606A>T (p.Ile536Phe) c.1273A>T (p.Ile425Phe) n.221+1146T>A | |
7 | g.117559590_117559592del | CA340628 | CFTR,CFTR-AS1 | c.1519_1521del (p.Ile507del) c.*1233_*1235del (n.*1233_*1235del) c.1336_1338del (p.Ile446del) c.*77_*79del (n.*77_*79del) c.*1343_*1345del (n.*1343_*1345del) c.1093_1095del (p.Ile365del) c.1429_1431del (p.Ile477del) c.1609_1611del (p.Ile537del) c.1276_1278del (p.Ile426del) n.221+1144_221+1146del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117559587_117559594delinsATCATCTT | CA1737384602 | CFTR,CFTR-AS1 | c.1516_1523delinsATCATCTT (p.Ile506=) c.*1230_*1237delinsATCATCTT (n.*1230_*1237delinsATCATCTT) c.1333_1340delinsATCATCTT (p.Ile445=) c.*74_*81delinsATCATCTT (n.*74_*81delinsATCATCTT) c.*1340_*1347delinsATCATCTT (n.*1340_*1347delinsATCATCTT) c.1090_1097delinsATCATCTT (p.Ile364=) c.1426_1433delinsATCATCTT (p.Ile476=) c.1606_1613delinsATCATCTT (p.Ile536=) c.1273_1280delinsATCATCTT (p.Ile425=) n.221+1139_221+1146delinsAAGATGAT | |
7 | g.117559588T>A | CA368984704 | CFTR,CFTR-AS1 | c.1517T>A (p.Ile506Asn) c.*1231T>A (n.*1231T>A) c.1334T>A (p.Ile445Asn) c.*75T>A (n.*75T>A) c.*1341T>A (n.*1341T>A) c.1091T>A (p.Ile364Asn) c.1427T>A (p.Ile476Asn) c.1607T>A (p.Ile536Asn) c.1274T>A (p.Ile425Asn) n.221+1145A>T | ClinVar |
7 | g.117559588T>C | CA326521 | CFTR,CFTR-AS1 | c.1517T>C (p.Ile506Thr) c.*1231T>C (n.*1231T>C) c.1334T>C (p.Ile445Thr) c.*75T>C (n.*75T>C) c.*1341T>C (n.*1341T>C) c.1091T>C (p.Ile364Thr) c.1427T>C (p.Ile476Thr) c.1607T>C (p.Ile536Thr) c.1274T>C (p.Ile425Thr) n.221+1145A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117559588T>G | CA326523 | CFTR,CFTR-AS1 | c.1517T>G (p.Ile506Ser) c.*1231T>G (n.*1231T>G) c.1334T>G (p.Ile445Ser) c.*75T>G (n.*75T>G) c.*1341T>G (n.*1341T>G) c.1091T>G (p.Ile364Ser) c.1427T>G (p.Ile476Ser) c.1607T>G (p.Ile536Ser) c.1274T>G (p.Ile425Ser) n.221+1145A>C | ClinVar dbSNP |
7 | g.117559588T= | CA1737384626 | CFTR,CFTR-AS1 | c.1517T= (p.Ile506=) c.*1231T= (n.*1231T=) c.1334T= (p.Ile445=) c.*75T= (n.*75T=) c.*1341T= (n.*1341T=) c.1091T= (p.Ile364=) c.1427T= (p.Ile476=) c.1607T= (p.Ile536=) c.1274T= (p.Ile425=) n.221+1145A= | |
7 | g.117559588_117559592delinsTCATC | CA1737384635 | CFTR,CFTR-AS1 | c.1517_1521delinsTCATC (p.Ile506=) c.*1231_*1235delinsTCATC (n.*1231_*1235delinsTCATC) c.1334_1338delinsTCATC (p.Ile445=) c.*75_*79delinsTCATC (n.*75_*79delinsTCATC) c.*1341_*1345delinsTCATC (n.*1341_*1345delinsTCATC) c.1091_1095delinsTCATC (p.Ile364=) c.1427_1431delinsTCATC (p.Ile476=) c.1607_1611delinsTCATC (p.Ile536=) c.1274_1278delinsTCATC (p.Ile425=) n.221+1141_221+1145delinsGATGA | |
7 | g.117559588_117559595delinsTCATCTTT | CA1737384633 | CFTR,CFTR-AS1 | c.1517_1524delinsTCATCTTT (p.Ile506=) c.*1231_*1238delinsTCATCTTT (n.*1231_*1238delinsTCATCTTT) c.1334_1341delinsTCATCTTT (p.Ile445=) c.*75_*82delinsTCATCTTT (n.*75_*82delinsTCATCTTT) c.*1341_*1348delinsTCATCTTT (n.*1341_*1348delinsTCATCTTT) c.1091_1098delinsTCATCTTT (p.Ile364=) c.1427_1434delinsTCATCTTT (p.Ile476=) c.1607_1614delinsTCATCTTT (p.Ile536=) c.1274_1281delinsTCATCTTT (p.Ile425=) n.221+1138_221+1145delinsAAAGATGA | |
7 | g.117559589_117559595del | CA918111823 | CFTR,CFTR-AS1 | c.1518_1524del (p.Ile506MetfsTer19) c.*1232_*1238del (n.*1232_*1238del) c.1335_1341del (p.Ile445MetfsTer19) c.*76_*82del (n.*76_*82del) c.*1342_*1348del (n.*1342_*1348del) c.1092_1098del (p.Ile364MetfsTer19) c.1428_1434del (p.Ile476MetfsTer19) c.1608_1614del (p.Ile536MetfsTer19) c.1275_1281del (p.Ile425MetfsTer19) n.221+1139_221+1145del | dbSNP |
7 | g.117559589C>A | CA4451014 | CFTR,CFTR-AS1 | c.1518C>A (p.Ile506=) c.*1232C>A (n.*1232C>A) c.1335C>A (p.Ile445=) c.*76C>A (n.*76C>A) c.*1342C>A (n.*1342C>A) c.1092C>A (p.Ile364=) c.1428C>A (p.Ile476=) c.1608C>A (p.Ile536=) c.1275C>A (p.Ile425=) n.221+1144G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117559589C= | CA1737384649 | CFTR,CFTR-AS1 | c.1518C= (p.Ile506=) c.*1232C= (n.*1232C=) c.1335C= (p.Ile445=) c.*76C= (n.*76C=) c.*1342C= (n.*1342C=) c.1092C= (p.Ile364=) c.1428C= (p.Ile476=) c.1608C= (p.Ile536=) c.1275C= (p.Ile425=) n.221+1144G= | |
7 | g.117559589C>G | CA326525 | CFTR,CFTR-AS1 | c.1518C>G (p.Ile506Met) c.*1232C>G (n.*1232C>G) c.1335C>G (p.Ile445Met) c.*76C>G (n.*76C>G) c.*1342C>G (n.*1342C>G) c.1092C>G (p.Ile364Met) c.1428C>G (p.Ile476Met) c.1608C>G (p.Ile536Met) c.1275C>G (p.Ile425Met) n.221+1144G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117559589C>T | CA457228860 | CFTR,CFTR-AS1 | c.1518C>T (p.Ile506=) c.*1232C>T (n.*1232C>T) c.1335C>T (p.Ile445=) c.*76C>T (n.*76C>T) c.*1342C>T (n.*1342C>T) c.1092C>T (p.Ile364=) c.1428C>T (p.Ile476=) c.1608C>T (p.Ile536=) c.1275C>T (p.Ile425=) n.221+1144G>A | COSMIC |
7 | g.117559589_117559592del | CA918111825 | CFTR,CFTR-AS1 | c.1518_1521del (p.Ile507LeufsTer19) c.*1232_*1235del (n.*1232_*1235del) c.1335_1338del (p.Ile446LeufsTer19) c.*76_*79del (n.*76_*79del) c.*1342_*1345del (n.*1342_*1345del) c.1092_1095del (p.Ile365LeufsTer19) c.1428_1431del (p.Ile477LeufsTer19) c.1608_1611del (p.Ile537LeufsTer19) c.1275_1278del (p.Ile426LeufsTer19) n.221+1141_221+1144del | dbSNP |
7 | g.117559589_117559595delinsA | CA164967764 | CFTR,CFTR-AS1 | c.1518_1524delinsA (p.Ile507_Phe508del) c.*1232_*1238delinsA (n.*1232_*1238delinsA) c.1335_1341delinsA (p.Ile446_Phe447del) c.*76_*82delinsA (n.*76_*82delinsA) c.*1342_*1348delinsA (n.*1342_*1348delinsA) c.1092_1098delinsA (p.Ile365_Phe366del) c.1428_1434delinsA (p.Ile477_Phe478del) c.1608_1614delinsA (p.Ile537_Phe538del) c.1275_1281delinsA (p.Ile426_Phe427del) n.221+1138_221+1144delinsT | dbSNP |
7 | g.117559589_117559595delinsG | CA164967765 | CFTR,CFTR-AS1 | c.1518_1524delinsG (p.Ile506_Phe508delinsMet) c.*1232_*1238delinsG (n.*1232_*1238delinsG) c.1335_1341delinsG (p.Ile445_Phe447delinsMet) c.*76_*82delinsG (n.*76_*82delinsG) c.*1342_*1348delinsG (n.*1342_*1348delinsG) c.1092_1098delinsG (p.Ile364_Phe366delinsMet) c.1428_1434delinsG (p.Ile476_Phe478delinsMet) c.1608_1614delinsG (p.Ile536_Phe538delinsMet) c.1275_1281delinsG (p.Ile425_Phe427delinsMet) n.221+1138_221+1144delinsC | dbSNP |
7 | g.117559590A= | CA1737384659 | CFTR,CFTR-AS1 | c.1519A= (p.Ile507=) c.*1233A= (n.*1233A=) c.1336A= (p.Ile446=) c.*77A= (n.*77A=) c.*1343A= (n.*1343A=) c.1093A= (p.Ile365=) c.1429A= (p.Ile477=) c.1609A= (p.Ile537=) c.1276A= (p.Ile426=) n.221+1143T= | |
7 | g.117559590A>C | CA368984707 | CFTR,CFTR-AS1 | c.1519A>C (p.Ile507Leu) c.*1233A>C (n.*1233A>C) c.1336A>C (p.Ile446Leu) c.*77A>C (n.*77A>C) c.*1343A>C (n.*1343A>C) c.1093A>C (p.Ile365Leu) c.1429A>C (p.Ile477Leu) c.1609A>C (p.Ile537Leu) c.1276A>C (p.Ile426Leu) n.221+1143T>G | |
7 | g.117559590A>G | CA274056 | CFTR,CFTR-AS1 | c.1519A>G (p.Ile507Val) c.*1233A>G (n.*1233A>G) c.1336A>G (p.Ile446Val) c.*77A>G (n.*77A>G) c.*1343A>G (n.*1343A>G) c.1093A>G (p.Ile365Val) c.1429A>G (p.Ile477Val) c.1609A>G (p.Ile537Val) c.1276A>G (p.Ile426Val) n.221+1143T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117559590A>T | CA368984708 | CFTR,CFTR-AS1 | c.1519A>T (p.Ile507Phe) c.*1233A>T (n.*1233A>T) c.1336A>T (p.Ile446Phe) c.*77A>T (n.*77A>T) c.*1343A>T (n.*1343A>T) c.1093A>T (p.Ile365Phe) c.1429A>T (p.Ile477Phe) c.1609A>T (p.Ile537Phe) c.1276A>T (p.Ile426Phe) n.221+1143T>A | ClinVar dbSNP |
7 | g.117559590_117559593delinsATCT | CA1737384661 | CFTR,CFTR-AS1 | c.1519_1522delinsATCT (p.Ile507=) c.*1233_*1236delinsATCT (n.*1233_*1236delinsATCT) c.1336_1339delinsATCT (p.Ile446=) c.*77_*80delinsATCT (n.*77_*80delinsATCT) c.*1343_*1346delinsATCT (n.*1343_*1346delinsATCT) c.1093_1096delinsATCT (p.Ile365=) c.1429_1432delinsATCT (p.Ile477=) c.1609_1612delinsATCT (p.Ile537=) c.1276_1279delinsATCT (p.Ile426=) n.221+1140_221+1143delinsAGAT | |
7 | g.117559591T>A | CA368984709 | CFTR,CFTR-AS1 | c.1520T>A (p.Ile507Asn) c.*1234T>A (n.*1234T>A) c.1337T>A (p.Ile446Asn) c.*78T>A (n.*78T>A) c.*1344T>A (n.*1344T>A) c.1094T>A (p.Ile365Asn) c.1430T>A (p.Ile477Asn) c.1610T>A (p.Ile537Asn) c.1277T>A (p.Ile426Asn) n.221+1142A>T | |
7 | g.117559591T>C | CA368984710 | CFTR,CFTR-AS1 | c.1520T>C (p.Ile507Thr) c.*1234T>C (n.*1234T>C) c.1337T>C (p.Ile446Thr) c.*78T>C (n.*78T>C) c.*1344T>C (n.*1344T>C) c.1094T>C (p.Ile365Thr) c.1430T>C (p.Ile477Thr) c.1610T>C (p.Ile537Thr) c.1277T>C (p.Ile426Thr) n.221+1142A>G | |
7 | g.117559591T>G | CA368984712 | CFTR,CFTR-AS1 | c.1520T>G (p.Ile507Ser) c.*1234T>G (n.*1234T>G) c.1337T>G (p.Ile446Ser) c.*78T>G (n.*78T>G) c.*1344T>G (n.*1344T>G) c.1094T>G (p.Ile365Ser) c.1430T>G (p.Ile477Ser) c.1610T>G (p.Ile537Ser) c.1277T>G (p.Ile426Ser) n.221+1142A>C | |
7 | g.117559592_117559593dup | CA918111826 | CFTR,CFTR-AS1 | c.1521_1522dup (p.Phe508SerfsTer20) c.*1235_*1236dup (n.*1235_*1236dup) c.1338_1339dup (p.Phe447SerfsTer20) c.*79_*80dup (n.*79_*80dup) c.*1345_*1346dup (n.*1345_*1346dup) c.1095_1096dup (p.Phe366SerfsTer20) c.1431_1432dup (p.Phe478SerfsTer20) c.1611_1612dup (p.Phe538SerfsTer20) c.1278_1279dup (p.Phe427SerfsTer20) n.221+1141_221+1142dup | dbSNP |
7 | g.117559592_117559594dup | CA1737384675 | CFTR,CFTR-AS1 | c.1521_1523dup (p.Phe508_Gly509insPhe) c.*1235_*1237dup (n.*1235_*1237dup) c.1338_1340dup (p.Phe447_Gly448insPhe) c.*79_*81dup (n.*79_*81dup) c.*1345_*1347dup (n.*1345_*1347dup) c.1095_1097dup (p.Phe366_Gly367insPhe) c.1431_1433dup (p.Phe478_Gly479insPhe) c.1611_1613dup (p.Phe538_Gly539insPhe) c.1278_1280dup (p.Phe427_Gly428insPhe) n.221+1140_221+1142dup | dbSNP |
7 | g.117559592_117559594del | CA118639 | CFTR,CFTR-AS1 | c.1521_1523del (p.Phe508del) c.*1235_*1237del (n.*1235_*1237del) c.1338_1340del (p.Phe447del) c.*79_*81del (n.*79_*81del) c.*1345_*1347del (n.*1345_*1347del) c.1095_1097del (p.Phe366del) c.1431_1433del (p.Phe478del) c.1611_1613del (p.Phe538del) c.1278_1280del (p.Phe427del) n.221+1140_221+1142del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.[117559592_117559594del;117610610T>C] | CA913203342 | CFTR | c.[1521_1523del;3080T>C] (p.[Phe508del;Ile1027Thr]) c.[*1235_*1237del;*2794T>C] (n.[*1235_*1237del;*2794T>C]) c.[1338_1340del;2897T>C] (p.[Phe447del;Ile966Thr]) c.[1521_1523del;*1380T>C] ([p.Phe508del;n.*1380T>C]) c.[*1345_*1347del;*2904T>C] (n.[*1345_*1347del;*2904T>C]) c.[1095_1097del;2654T>C] (p.[Phe366del;Ile885Thr]) c.[1338_1340del;1862T>C] (p.[Phe447del;Ile621Thr]) c.[1431_1433del;2990T>C] (p.[Phe478del;Ile997Thr]) c.[1611_1613del;3170T>C] (p.[Phe538del;Ile1057Thr]) c.[1278_1280del;2837T>C] (p.[Phe427del;Ile946Thr]) | |
7 | g.117559591_117559592insA | CA2695208328 | CFTR,CFTR-AS1 | c.1520_1521insA (p.Phe508LeufsTer6) c.*1234_*1235insA (n.*1234_*1235insA) c.1337_1338insA (p.Phe447LeufsTer6) c.*78_*79insA (n.*78_*79insA) c.*1344_*1345insA (n.*1344_*1345insA) c.1094_1095insA (p.Phe366LeufsTer6) c.1430_1431insA (p.Phe478LeufsTer6) c.1610_1611insA (p.Phe538LeufsTer6) c.1277_1278insA (p.Phe427LeufsTer6) n.221+1141_221+1142insT | |
7 | g.117559592C>A | CA457228868 | CFTR,CFTR-AS1 | c.1521C>A (p.Ile507=) c.*1235C>A (n.*1235C>A) c.1338C>A (p.Ile446=) c.*79C>A (n.*79C>A) c.*1345C>A (n.*1345C>A) c.1095C>A (p.Ile365=) c.1431C>A (p.Ile477=) c.1611C>A (p.Ile537=) c.1278C>A (p.Ile426=) n.221+1141G>T | |
7 | g.117559592C>G | CA368984720 | CFTR,CFTR-AS1 | c.1521C>G (p.Ile507Met) c.*1235C>G (n.*1235C>G) c.1338C>G (p.Ile446Met) c.*79C>G (n.*79C>G) c.*1345C>G (n.*1345C>G) c.1095C>G (p.Ile365Met) c.1431C>G (p.Ile477Met) c.1611C>G (p.Ile537Met) c.1278C>G (p.Ile426Met) n.221+1141G>C | |
7 | g.117559592C>T | CA457228866 | CFTR,CFTR-AS1 | c.1521C>T (p.Ile507=) c.*1235C>T (n.*1235C>T) c.1338C>T (p.Ile446=) c.*79C>T (n.*79C>T) c.*1345C>T (n.*1345C>T) c.1095C>T (p.Ile365=) c.1431C>T (p.Ile477=) c.1611C>T (p.Ile537=) c.1278C>T (p.Ile426=) n.221+1141G>A | |
7 | g.117559592_117559593delinsCT | CA1737384680 | CFTR,CFTR-AS1 | c.1521_1522delinsCT (p.Ile507=) c.*1235_*1236delinsCT (n.*1235_*1236delinsCT) c.1338_1339delinsCT (p.Ile446=) c.*79_*80delinsCT (n.*79_*80delinsCT) c.*1345_*1346delinsCT (n.*1345_*1346delinsCT) c.1095_1096delinsCT (p.Ile365=) c.1431_1432delinsCT (p.Ile477=) c.1611_1612delinsCT (p.Ile537=) c.1278_1279delinsCT (p.Ile426=) n.221+1140_221+1141delinsAG | |
7 | g.117559592_117559593delinsTC | CA164967774 | CFTR,CFTR-AS1 | c.1521_1522delinsTC (p.Phe508Leu) c.*1235_*1236delinsTC (n.*1235_*1236delinsTC) c.1338_1339delinsTC (p.Phe447Leu) c.*79_*80delinsTC (n.*79_*80delinsTC) c.*1345_*1346delinsTC (n.*1345_*1346delinsTC) c.1095_1096delinsTC (p.Phe366Leu) c.1431_1432delinsTC (p.Phe478Leu) c.1611_1612delinsTC (p.Phe538Leu) c.1278_1279delinsTC (p.Phe427Leu) n.221+1140_221+1141delinsGA | |
7 | g.117559592_117559595delinsCTTT | CA1737384679 | CFTR,CFTR-AS1 | c.1521_1524delinsCTTT (p.Ile507=) c.*1235_*1238delinsCTTT (n.*1235_*1238delinsCTTT) c.1338_1341delinsCTTT (p.Ile446=) c.*79_*82delinsCTTT (n.*79_*82delinsCTTT) c.*1345_*1348delinsCTTT (n.*1345_*1348delinsCTTT) c.1095_1098delinsCTTT (p.Ile365=) c.1431_1434delinsCTTT (p.Ile477=) c.1611_1614delinsCTTT (p.Ile537=) c.1278_1281delinsCTTT (p.Ile426=) n.221+1138_221+1141delinsAAAG | |
7 | g.117559594_117559605del | CA2695208327 | CFTR,CFTR-AS1 | c.1523_1534del (p.Phe508_Ser511del) c.*1237_*1248del (n.*1237_*1248del) c.1340_1351del (p.Phe447_Ser450del) c.*81_*92del (n.*81_*92del) c.*1347_*1358del (n.*1347_*1358del) c.1097_1108del (p.Phe366_Ser369del) c.1433_1444del (p.Phe478_Ser481del) c.1613_1624del (p.Phe538_Ser541del) c.1280_1291del (p.Phe427_Ser430del) n.221+1130_221+1141del | |
7 | g.117559593T>A | CA368984722 | CFTR,CFTR-AS1 | c.1522T>A (p.Phe508Ile) c.*1236T>A (n.*1236T>A) c.1339T>A (p.Phe447Ile) c.*80T>A (n.*80T>A) c.*1346T>A (n.*1346T>A) c.1096T>A (p.Phe366Ile) c.1432T>A (p.Phe478Ile) c.1612T>A (p.Phe538Ile) c.1279T>A (p.Phe427Ile) n.221+1140A>T | dbSNP |
7 | g.117559593T>C | CA4451016 | CFTR,CFTR-AS1 | c.1522T>C (p.Phe508Leu) c.*1236T>C (n.*1236T>C) c.1339T>C (p.Phe447Leu) c.*80T>C (n.*80T>C) c.*1346T>C (n.*1346T>C) c.1096T>C (p.Phe366Leu) c.1432T>C (p.Phe478Leu) c.1612T>C (p.Phe538Leu) c.1279T>C (p.Phe427Leu) n.221+1140A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117559593T>G | CA4451015 | CFTR,CFTR-AS1 | c.1522T>G (p.Phe508Val) c.*1236T>G (n.*1236T>G) c.1339T>G (p.Phe447Val) c.*80T>G (n.*80T>G) c.*1346T>G (n.*1346T>G) c.1096T>G (p.Phe366Val) c.1432T>G (p.Phe478Val) c.1612T>G (p.Phe538Val) c.1279T>G (p.Phe427Val) n.221+1140A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117559593T= | CA1737384687 | CFTR,CFTR-AS1 | c.1522T= (p.Phe508=) c.*1236T= (n.*1236T=) c.1339T= (p.Phe447=) c.*80T= (n.*80T=) c.*1346T= (n.*1346T=) c.1096T= (p.Phe366=) c.1432T= (p.Phe478=) c.1612T= (p.Phe538=) c.1279T= (p.Phe427=) n.221+1140A= | |
7 | g.117559593_117559595del | CA164967779 | CFTR,CFTR-AS1 | c.1522_1524del (p.Phe508del) c.*1236_*1238del (n.*1236_*1238del) c.1339_1341del (p.Phe447del) c.*80_*82del (n.*80_*82del) c.*1346_*1348del (n.*1346_*1348del) c.1096_1098del (p.Phe366del) c.1432_1434del (p.Phe478del) c.1612_1614del (p.Phe538del) c.1279_1281del (p.Phe427del) n.221+1138_221+1140del | dbSNP |
7 | g.117559595del | CA918111829 | CFTR,CFTR-AS1 | c.1524del (p.Phe508LeufsTer19) c.*1238del (n.*1238del) c.1341del (p.Phe447LeufsTer19) c.*82del (n.*82del) c.*1348del (n.*1348del) c.1098del (p.Phe366LeufsTer19) c.1434del (p.Phe478LeufsTer19) c.1614del (p.Phe538LeufsTer19) c.1281del (p.Phe427LeufsTer19) n.221+1140del | dbSNP |
7 | g.117559594T>A | CA368984727 | CFTR,CFTR-AS1 | c.1523T>A (p.Phe508Tyr) c.*1237T>A (n.*1237T>A) c.1340T>A (p.Phe447Tyr) c.*81T>A (n.*81T>A) c.*1347T>A (n.*1347T>A) c.1097T>A (p.Phe366Tyr) c.1433T>A (p.Phe478Tyr) c.1613T>A (p.Phe538Tyr) c.1280T>A (p.Phe427Tyr) n.221+1139A>T | dbSNP gnomAD v4 |
7 | g.117559594T>C | CA326527 | CFTR,CFTR-AS1 | c.1523T>C (p.Phe508Ser) c.*1237T>C (n.*1237T>C) c.1340T>C (p.Phe447Ser) c.*81T>C (n.*81T>C) c.*1347T>C (n.*1347T>C) c.1097T>C (p.Phe366Ser) c.1433T>C (p.Phe478Ser) c.1613T>C (p.Phe538Ser) c.1280T>C (p.Phe427Ser) n.221+1139A>G | dbSNP |
7 | g.117559594T>G | CA146695 | CFTR,CFTR-AS1 | c.1523T>G (p.Phe508Cys) c.*1237T>G (n.*1237T>G) c.1340T>G (p.Phe447Cys) c.*81T>G (n.*81T>G) c.*1347T>G (n.*1347T>G) c.1097T>G (p.Phe366Cys) c.1433T>G (p.Phe478Cys) c.1613T>G (p.Phe538Cys) c.1280T>G (p.Phe427Cys) n.221+1139A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.[117559594T>G;117642472G>A] | CA2573102335 | CFTR | c.[1523T>G;3552G>A] (p.[Phe508Cys;Glu1184=]) c.[*1237T>G;*3466G>A] (n.[*1237T>G;*3466G>A]) c.[1340T>G;3569G>A] (p.[Phe447Cys;Ser1190Asn]) c.[1523T>G;3752G>A] (p.[Phe508Cys;Ser1251Asn]) c.[1523T>G;*405G>A] ([p.Phe508Cys;n.*405G>A]) c.[1523T>G;*413G>A] ([p.Phe508Cys;n.*413G>A]) c.[1523T>G;*2127G>A] ([p.Phe508Cys;n.*2127G>A]) c.[1523T>G;3746G>A] (p.[Phe508Cys;Ser1249Asn]) c.[*1347T>G;*3576G>A] (n.[*1347T>G;*3576G>A]) c.[1097T>G;3326G>A] (p.[Phe366Cys;Ser1109Asn]) c.[1433T>G;3662G>A] (p.[Phe478Cys;Ser1221Asn]) c.[1613T>G;3842G>A] (p.[Phe538Cys;Ser1281Asn]) c.[1280T>G;3509G>A] (p.[Phe427Cys;Ser1170Asn]) | |
7 | g.117559594T= | CA1737384691 | CFTR,CFTR-AS1 | c.1523T= (p.Phe508=) c.*1237T= (n.*1237T=) c.1340T= (p.Phe447=) c.*81T= (n.*81T=) c.*1347T= (n.*1347T=) c.1097T= (p.Phe366=) c.1433T= (p.Phe478=) c.1613T= (p.Phe538=) c.1280T= (p.Phe427=) n.221+1139A= | |
7 | g.117559595T>A | CA368984730 | CFTR,CFTR-AS1 | c.1524T>A (p.Phe508Leu) c.*1238T>A (n.*1238T>A) c.1341T>A (p.Phe447Leu) c.*82T>A (n.*82T>A) c.*1348T>A (n.*1348T>A) c.1098T>A (p.Phe366Leu) c.1434T>A (p.Phe478Leu) c.1614T>A (p.Phe538Leu) c.1281T>A (p.Phe427Leu) n.221+1138A>T | |
7 | g.117559595T>C | CA457228869 | CFTR,CFTR-AS1 | c.1524T>C (p.Phe508=) c.*1238T>C (n.*1238T>C) c.1341T>C (p.Phe447=) c.*82T>C (n.*82T>C) c.*1348T>C (n.*1348T>C) c.1098T>C (p.Phe366=) c.1434T>C (p.Phe478=) c.1614T>C (p.Phe538=) c.1281T>C (p.Phe427=) n.221+1138A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117559595T>G | CA368984737 | CFTR,CFTR-AS1 | c.1524T>G (p.Phe508Leu) c.*1238T>G (n.*1238T>G) c.1341T>G (p.Phe447Leu) c.*82T>G (n.*82T>G) c.*1348T>G (n.*1348T>G) c.1098T>G (p.Phe366Leu) c.1434T>G (p.Phe478Leu) c.1614T>G (p.Phe538Leu) c.1281T>G (p.Phe427Leu) n.221+1138A>C | |
7 | g.117559595T= | CA1737384703 | CFTR,CFTR-AS1 | c.1524T= (p.Phe508=) c.*1238T= (n.*1238T=) c.1341T= (p.Phe447=) c.*82T= (n.*82T=) c.*1348T= (n.*1348T=) c.1098T= (p.Phe366=) c.1434T= (p.Phe478=) c.1614T= (p.Phe538=) c.1281T= (p.Phe427=) n.221+1138A= | |
7 | g.117559596G>A | CA368984741 | CFTR,CFTR-AS1 | c.1525G>A (p.Gly509Ser) c.*1239G>A (n.*1239G>A) c.1342G>A (p.Gly448Ser) c.*83G>A (n.*83G>A) c.*1349G>A (n.*1349G>A) c.1099G>A (p.Gly367Ser) c.1435G>A (p.Gly479Ser) c.1615G>A (p.Gly539Ser) c.1282G>A (p.Gly428Ser) n.221+1137C>T | |
7 | g.117559596G>C | CA368984742 | CFTR,CFTR-AS1 | c.1525G>C (p.Gly509Arg) c.*1239G>C (n.*1239G>C) c.1342G>C (p.Gly448Arg) c.*83G>C (n.*83G>C) c.*1349G>C (n.*1349G>C) c.1099G>C (p.Gly367Arg) c.1435G>C (p.Gly479Arg) c.1615G>C (p.Gly539Arg) c.1282G>C (p.Gly428Arg) n.221+1137C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117559596G= | CA1737384709 | CFTR,CFTR-AS1 | c.1525G= (p.Gly509=) c.*1239G= (n.*1239G=) c.1342G= (p.Gly448=) c.*83G= (n.*83G=) c.*1349G= (n.*1349G=) c.1099G= (p.Gly367=) c.1435G= (p.Gly479=) c.1615G= (p.Gly539=) c.1282G= (p.Gly428=) n.221+1137C= | |
7 | g.117559596G>T | CA368984744 | CFTR,CFTR-AS1 | c.1525G>T (p.Gly509Cys) c.*1239G>T (n.*1239G>T) c.1342G>T (p.Gly448Cys) c.*83G>T (n.*83G>T) c.*1349G>T (n.*1349G>T) c.1099G>T (p.Gly367Cys) c.1435G>T (p.Gly479Cys) c.1615G>T (p.Gly539Cys) c.1282G>T (p.Gly428Cys) n.221+1137C>A | |
7 | g.117559597G>A | CA368984749 | CFTR,CFTR-AS1 | c.1526G>A (p.Gly509Asp) c.*1240G>A (n.*1240G>A) c.1343G>A (p.Gly448Asp) c.*84G>A (n.*84G>A) c.*1350G>A (n.*1350G>A) c.1100G>A (p.Gly367Asp) c.1436G>A (p.Gly479Asp) c.1616G>A (p.Gly539Asp) c.1283G>A (p.Gly428Asp) n.221+1136C>T | |
7 | g.117559597G>C | CA368984748 | CFTR,CFTR-AS1 | c.1526G>C (p.Gly509Ala) c.*1240G>C (n.*1240G>C) c.1343G>C (p.Gly448Ala) c.*84G>C (n.*84G>C) c.*1350G>C (n.*1350G>C) c.1100G>C (p.Gly367Ala) c.1436G>C (p.Gly479Ala) c.1616G>C (p.Gly539Ala) c.1283G>C (p.Gly428Ala) n.221+1136C>G | |
7 | g.117559597G>T | CA368984747 | CFTR,CFTR-AS1 | c.1526G>T (p.Gly509Val) c.*1240G>T (n.*1240G>T) c.1343G>T (p.Gly448Val) c.*84G>T (n.*84G>T) c.*1350G>T (n.*1350G>T) c.1100G>T (p.Gly367Val) c.1436G>T (p.Gly479Val) c.1616G>T (p.Gly539Val) c.1283G>T (p.Gly428Val) n.221+1136C>A | ClinVar gnomAD v4 |
7 | g.117559598T>A | CA457228870 | CFTR,CFTR-AS1 | c.1527T>A (p.Gly509=) c.*1241T>A (n.*1241T>A) c.1344T>A (p.Gly448=) c.*85T>A (n.*85T>A) c.*1351T>A (n.*1351T>A) c.1101T>A (p.Gly367=) c.1437T>A (p.Gly479=) c.1617T>A (p.Gly539=) c.1284T>A (p.Gly428=) n.221+1135A>T | |
7 | g.117559598T>C | CA457228871 | CFTR,CFTR-AS1 | c.1527T>C (p.Gly509=) c.*1241T>C (n.*1241T>C) c.1344T>C (p.Gly448=) c.*85T>C (n.*85T>C) c.*1351T>C (n.*1351T>C) c.1101T>C (p.Gly367=) c.1437T>C (p.Gly479=) c.1617T>C (p.Gly539=) c.1284T>C (p.Gly428=) n.221+1135A>G | |
7 | g.117559598T>G | CA457228872 | CFTR,CFTR-AS1 | c.1527T>G (p.Gly509=) c.*1241T>G (n.*1241T>G) c.1344T>G (p.Gly448=) c.*85T>G (n.*85T>G) c.*1351T>G (n.*1351T>G) c.1101T>G (p.Gly367=) c.1437T>G (p.Gly479=) c.1617T>G (p.Gly539=) c.1284T>G (p.Gly428=) n.221+1135A>C | |
7 | g.117559599del | CA2573130180 | CFTR,CFTR-AS1 | c.1528del (p.Val510PhefsTer17) c.*1242del (n.*1242del) c.1345del (p.Val449PhefsTer17) c.*86del (n.*86del) c.*1352del (n.*1352del) c.1102del (p.Val368PhefsTer17) c.1438del (p.Val480PhefsTer17) c.1618del (p.Val540PhefsTer17) c.1285del (p.Val429PhefsTer17) n.221+1134del | |
7 | g.117559599G>A | CA4451017 | CFTR,CFTR-AS1 | c.1528G>A (p.Val510Ile) c.*1242G>A (n.*1242G>A) c.1345G>A (p.Val449Ile) c.*86G>A (n.*86G>A) c.*1352G>A (n.*1352G>A) c.1102G>A (p.Val368Ile) c.1438G>A (p.Val480Ile) c.1618G>A (p.Val540Ile) c.1285G>A (p.Val429Ile) n.221+1134C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117559599G>C | CA368984755 | CFTR,CFTR-AS1 | c.1528G>C (p.Val510Leu) c.*1242G>C (n.*1242G>C) c.1345G>C (p.Val449Leu) c.*86G>C (n.*86G>C) c.*1352G>C (n.*1352G>C) c.1102G>C (p.Val368Leu) c.1438G>C (p.Val480Leu) c.1618G>C (p.Val540Leu) c.1285G>C (p.Val429Leu) n.221+1134C>G | |
7 | g.117559599G= | CA1737384714 | CFTR,CFTR-AS1 | c.1528G= (p.Val510=) c.*1242G= (n.*1242G=) c.1345G= (p.Val449=) c.*86G= (n.*86G=) c.*1352G= (n.*1352G=) c.1102G= (p.Val368=) c.1438G= (p.Val480=) c.1618G= (p.Val540=) c.1285G= (p.Val429=) n.221+1134C= | |
7 | g.117559599G>T | CA368984752 | CFTR,CFTR-AS1 | c.1528G>T (p.Val510Phe) c.*1242G>T (n.*1242G>T) c.1345G>T (p.Val449Phe) c.*86G>T (n.*86G>T) c.*1352G>T (n.*1352G>T) c.1102G>T (p.Val368Phe) c.1438G>T (p.Val480Phe) c.1618G>T (p.Val540Phe) c.1285G>T (p.Val429Phe) n.221+1134C>A | ClinVar dbSNP |
7 | g.117559599_117559601delinsGTT | CA1737384717 | CFTR,CFTR-AS1 | c.1528_1530delinsGTT (p.Val510=) c.*1242_*1244delinsGTT (n.*1242_*1244delinsGTT) c.1345_1347delinsGTT (p.Val449=) c.*86_*88delinsGTT (n.*86_*88delinsGTT) c.*1352_*1354delinsGTT (n.*1352_*1354delinsGTT) c.1102_1104delinsGTT (p.Val368=) c.1438_1440delinsGTT (p.Val480=) c.1618_1620delinsGTT (p.Val540=) c.1285_1287delinsGTT (p.Val429=) n.221+1132_221+1134delinsAAC | |
7 | g.117559600T>A | CA368984757 | CFTR,CFTR-AS1 | c.1529T>A (p.Val510Asp) c.*1243T>A (n.*1243T>A) c.1346T>A (p.Val449Asp) c.*87T>A (n.*87T>A) c.*1353T>A (n.*1353T>A) c.1103T>A (p.Val368Asp) c.1439T>A (p.Val480Asp) c.1619T>A (p.Val540Asp) c.1286T>A (p.Val429Asp) n.221+1133A>T | |
7 | g.117559600T>C | CA368984758 | CFTR,CFTR-AS1 | c.1529T>C (p.Val510Ala) c.*1243T>C (n.*1243T>C) c.1346T>C (p.Val449Ala) c.*87T>C (n.*87T>C) c.*1353T>C (n.*1353T>C) c.1103T>C (p.Val368Ala) c.1439T>C (p.Val480Ala) c.1619T>C (p.Val540Ala) c.1286T>C (p.Val429Ala) n.221+1133A>G | gnomAD v4 |
7 | g.117559600T>G | CA368984761 | CFTR,CFTR-AS1 | c.1529T>G (p.Val510Gly) c.*1243T>G (n.*1243T>G) c.1346T>G (p.Val449Gly) c.*87T>G (n.*87T>G) c.*1353T>G (n.*1353T>G) c.1103T>G (p.Val368Gly) c.1439T>G (p.Val480Gly) c.1619T>G (p.Val540Gly) c.1286T>G (p.Val429Gly) n.221+1133A>C | |
7 | g.117559601_117559602del | CA913190000 | CFTR,CFTR-AS1 | c.1530_1531del (p.Ser511LeufsTer2) c.*1244_*1245del (n.*1244_*1245del) c.1347_1348del (p.Ser450LeufsTer2) c.*88_*89del (n.*88_*89del) c.*1354_*1355del (n.*1354_*1355del) c.1104_1105del (p.Ser369LeufsTer2) c.1440_1441del (p.Ser481LeufsTer2) c.1620_1621del (p.Ser541LeufsTer2) c.1287_1288del (p.Ser430LeufsTer2) n.221+1132_221+1133del | ClinVar dbSNP |
7 | g.117559601T>A | CA457228873 | CFTR,CFTR-AS1 | c.1530T>A (p.Val510=) c.*1244T>A (n.*1244T>A) c.1347T>A (p.Val449=) c.*88T>A (n.*88T>A) c.*1354T>A (n.*1354T>A) c.1104T>A (p.Val368=) c.1440T>A (p.Val480=) c.1620T>A (p.Val540=) c.1287T>A (p.Val429=) n.221+1132A>T | |
7 | g.117559601T>C | CA457228874 | CFTR,CFTR-AS1 | c.1530T>C (p.Val510=) c.*1244T>C (n.*1244T>C) c.1347T>C (p.Val449=) c.*88T>C (n.*88T>C) c.*1354T>C (n.*1354T>C) c.1104T>C (p.Val368=) c.1440T>C (p.Val480=) c.1620T>C (p.Val540=) c.1287T>C (p.Val429=) n.221+1132A>G | |
7 | g.117559601T>G | CA457228875 | CFTR,CFTR-AS1 | c.1530T>G (p.Val510=) c.*1244T>G (n.*1244T>G) c.1347T>G (p.Val449=) c.*88T>G (n.*88T>G) c.*1354T>G (n.*1354T>G) c.1104T>G (p.Val368=) c.1440T>G (p.Val480=) c.1620T>G (p.Val540=) c.1287T>G (p.Val429=) n.221+1132A>C | |
7 | g.117559602T>A | CA368984763 | CFTR,CFTR-AS1 | c.1531T>A (p.Ser511Thr) c.*1245T>A (n.*1245T>A) c.1348T>A (p.Ser450Thr) c.*89T>A (n.*89T>A) c.*1355T>A (n.*1355T>A) c.1105T>A (p.Ser369Thr) c.1441T>A (p.Ser481Thr) c.1621T>A (p.Ser541Thr) c.1288T>A (p.Ser430Thr) n.221+1131A>T | |
7 | g.117559602T>C | CA368984766 | CFTR,CFTR-AS1 | c.1531T>C (p.Ser511Pro) c.*1245T>C (n.*1245T>C) c.1348T>C (p.Ser450Pro) c.*89T>C (n.*89T>C) c.*1355T>C (n.*1355T>C) c.1105T>C (p.Ser369Pro) c.1441T>C (p.Ser481Pro) c.1621T>C (p.Ser541Pro) c.1288T>C (p.Ser430Pro) n.221+1131A>G | gnomAD v4 |
7 | g.117559602T>G | CA368984767 | CFTR,CFTR-AS1 | c.1531T>G (p.Ser511Ala) c.*1245T>G (n.*1245T>G) c.1348T>G (p.Ser450Ala) c.*89T>G (n.*89T>G) c.*1355T>G (n.*1355T>G) c.1105T>G (p.Ser369Ala) c.1441T>G (p.Ser481Ala) c.1621T>G (p.Ser541Ala) c.1288T>G (p.Ser430Ala) n.221+1131A>C | |
7 | g.117559603C>A | CA368984769 | CFTR,CFTR-AS1 | c.1532C>A (p.Ser511Tyr) c.*1246C>A (n.*1246C>A) c.1349C>A (p.Ser450Tyr) c.*90C>A (n.*90C>A) c.*1356C>A (n.*1356C>A) c.1106C>A (p.Ser369Tyr) c.1442C>A (p.Ser481Tyr) c.1622C>A (p.Ser541Tyr) c.1289C>A (p.Ser430Tyr) n.221+1130G>T | |
7 | g.117559603C>G | CA368984771 | CFTR,CFTR-AS1 | c.1532C>G (p.Ser511Cys) c.*1246C>G (n.*1246C>G) c.1349C>G (p.Ser450Cys) c.*90C>G (n.*90C>G) c.*1356C>G (n.*1356C>G) c.1106C>G (p.Ser369Cys) c.1442C>G (p.Ser481Cys) c.1622C>G (p.Ser541Cys) c.1289C>G (p.Ser430Cys) n.221+1130G>C | |
7 | g.117559603C>T | CA368984774 | CFTR,CFTR-AS1 | c.1532C>T (p.Ser511Phe) c.*1246C>T (n.*1246C>T) c.1349C>T (p.Ser450Phe) c.*90C>T (n.*90C>T) c.*1356C>T (n.*1356C>T) c.1106C>T (p.Ser369Phe) c.1442C>T (p.Ser481Phe) c.1622C>T (p.Ser541Phe) c.1289C>T (p.Ser430Phe) n.221+1130G>A | gnomAD v4 COSMIC |
7 | g.117559603_117559604insTGAAAC | CA2579000011 | CFTR,CFTR-AS1 | c.1532_1533insTGAAAC (p.Ser511_Tyr512insGluThr) c.*1246_*1247insTGAAAC (n.*1246_*1247insTGAAAC) c.1349_1350insTGAAAC (p.Ser450_Tyr451insGluThr) c.*90_*91insTGAAAC (n.*90_*91insTGAAAC) c.*1356_*1357insTGAAAC (n.*1356_*1357insTGAAAC) c.1106_1107insTGAAAC (p.Ser369_Tyr370insGluThr) c.1442_1443insTGAAAC (p.Ser481_Tyr482insGluThr) c.1622_1623insTGAAAC (p.Ser541_Tyr542insGluThr) c.1289_1290insTGAAAC (p.Ser430_Tyr431insGluThr) n.221+1130_221+1131insTTTCAG | |
7 | g.117559604C>A | CA457228876 | CFTR,CFTR-AS1 | c.1533C>A (p.Ser511=) c.*1247C>A (n.*1247C>A) c.1350C>A (p.Ser450=) c.*91C>A (n.*91C>A) c.*1357C>A (n.*1357C>A) c.1107C>A (p.Ser369=) c.1443C>A (p.Ser481=) c.1623C>A (p.Ser541=) c.1290C>A (p.Ser430=) n.221+1129G>T | |
7 | g.117559604C>G | CA457228877 | CFTR,CFTR-AS1 | c.1533C>G (p.Ser511=) c.*1247C>G (n.*1247C>G) c.1350C>G (p.Ser450=) c.*91C>G (n.*91C>G) c.*1357C>G (n.*1357C>G) c.1107C>G (p.Ser369=) c.1443C>G (p.Ser481=) c.1623C>G (p.Ser541=) c.1290C>G (p.Ser430=) n.221+1129G>C | |
7 | g.117559604C>T | CA457228878 | CFTR,CFTR-AS1 | c.1533C>T (p.Ser511=) c.*1247C>T (n.*1247C>T) c.1350C>T (p.Ser450=) c.*91C>T (n.*91C>T) c.*1357C>T (n.*1357C>T) c.1107C>T (p.Ser369=) c.1443C>T (p.Ser481=) c.1623C>T (p.Ser541=) c.1290C>T (p.Ser430=) n.221+1129G>A | gnomAD v4 |
7 | g.117559605T>A | CA368984781 | CFTR,CFTR-AS1 | c.1534T>A (p.Tyr512Asn) c.*1248T>A (n.*1248T>A) c.1351T>A (p.Tyr451Asn) c.*92T>A (n.*92T>A) c.*1358T>A (n.*1358T>A) c.1108T>A (p.Tyr370Asn) c.1444T>A (p.Tyr482Asn) c.1624T>A (p.Tyr542Asn) c.1291T>A (p.Tyr431Asn) n.221+1128A>T | ClinVar dbSNP gnomAD v4 |
7 | g.117559605T>C | CA368984782 | CFTR,CFTR-AS1 | c.1534T>C (p.Tyr512His) c.*1248T>C (n.*1248T>C) c.1351T>C (p.Tyr451His) c.*92T>C (n.*92T>C) c.*1358T>C (n.*1358T>C) c.1108T>C (p.Tyr370His) c.1444T>C (p.Tyr482His) c.1624T>C (p.Tyr542His) c.1291T>C (p.Tyr431His) n.221+1128A>G | |
7 | g.117559605T>G | CA368984784 | CFTR,CFTR-AS1 | c.1534T>G (p.Tyr512Asp) c.*1248T>G (n.*1248T>G) c.1351T>G (p.Tyr451Asp) c.*92T>G (n.*92T>G) c.*1358T>G (n.*1358T>G) c.1108T>G (p.Tyr370Asp) c.1444T>G (p.Tyr482Asp) c.1624T>G (p.Tyr542Asp) c.1291T>G (p.Tyr431Asp) n.221+1128A>C | |
7 | g.117559605T= | CA1737384729 | CFTR,CFTR-AS1 | c.1534T= (p.Tyr512=) c.*1248T= (n.*1248T=) c.1351T= (p.Tyr451=) c.*92T= (n.*92T=) c.*1358T= (n.*1358T=) c.1108T= (p.Tyr370=) c.1444T= (p.Tyr482=) c.1624T= (p.Tyr542=) c.1291T= (p.Tyr431=) n.221+1128A= | |
7 | g.117559606A= | CA1737384736 | CFTR,CFTR-AS1 | c.1535A= (p.Tyr512=) c.*1249A= (n.*1249A=) c.1352A= (p.Tyr451=) c.*93A= (n.*93A=) c.*1359A= (n.*1359A=) c.1109A= (p.Tyr370=) c.1445A= (p.Tyr482=) c.1625A= (p.Tyr542=) c.1292A= (p.Tyr431=) n.221+1127T= | |
7 | g.117559606A>C | CA368984787 | CFTR,CFTR-AS1 | c.1535A>C (p.Tyr512Ser) c.*1249A>C (n.*1249A>C) c.1352A>C (p.Tyr451Ser) c.*93A>C (n.*93A>C) c.*1359A>C (n.*1359A>C) c.1109A>C (p.Tyr370Ser) c.1445A>C (p.Tyr482Ser) c.1625A>C (p.Tyr542Ser) c.1292A>C (p.Tyr431Ser) n.221+1127T>G | |
7 | g.117559606A>G | CA164967788 | CFTR,CFTR-AS1 | c.1535A>G (p.Tyr512Cys) c.*1249A>G (n.*1249A>G) c.1352A>G (p.Tyr451Cys) c.*93A>G (n.*93A>G) c.*1359A>G (n.*1359A>G) c.1109A>G (p.Tyr370Cys) c.1445A>G (p.Tyr482Cys) c.1625A>G (p.Tyr542Cys) c.1292A>G (p.Tyr431Cys) n.221+1127T>C | ClinVar dbSNP gnomAD v4 COSMIC |
7 | g.117559606A>T | CA368984789 | CFTR,CFTR-AS1 | c.1535A>T (p.Tyr512Phe) c.*1249A>T (n.*1249A>T) c.1352A>T (p.Tyr451Phe) c.*93A>T (n.*93A>T) c.*1359A>T (n.*1359A>T) c.1109A>T (p.Tyr370Phe) c.1445A>T (p.Tyr482Phe) c.1625A>T (p.Tyr542Phe) c.1292A>T (p.Tyr431Phe) n.221+1127T>A | |
7 | g.117559610_117559612del | CA2579000018 | CFTR,CFTR-AS1 | c.1539_1541del (p.Asp513del) c.*1253_*1255del (n.*1253_*1255del) c.1356_1358del (p.Asp452del) c.*97_*99del (n.*97_*99del) c.*1363_*1365del (n.*1363_*1365del) c.1113_1115del (p.Asp371del) c.1449_1451del (p.Asp483del) c.1629_1631del (p.Asp543del) c.1296_1298del (p.Asp432del) n.221+1125_221+1127del | |
7 | g.117559607T>A | CA368984793 | CFTR,CFTR-AS1 | c.1536T>A (p.Tyr512Ter) c.*1250T>A (n.*1250T>A) c.1353T>A (p.Tyr451Ter) c.*94T>A (n.*94T>A) c.*1360T>A (n.*1360T>A) c.1110T>A (p.Tyr370Ter) c.1446T>A (p.Tyr482Ter) c.1626T>A (p.Tyr542Ter) c.1293T>A (p.Tyr431Ter) n.221+1126A>T | |
7 | g.117559607T>C | CA457228879 | CFTR,CFTR-AS1 | c.1536T>C (p.Tyr512=) c.*1250T>C (n.*1250T>C) c.1353T>C (p.Tyr451=) c.*94T>C (n.*94T>C) c.*1360T>C (n.*1360T>C) c.1110T>C (p.Tyr370=) c.1446T>C (p.Tyr482=) c.1626T>C (p.Tyr542=) c.1293T>C (p.Tyr431=) n.221+1126A>G | ClinVar dbSNP gnomAD v4 |
7 | g.117559607T>G | CA368984796 | CFTR,CFTR-AS1 | c.1536T>G (p.Tyr512Ter) c.*1250T>G (n.*1250T>G) c.1353T>G (p.Tyr451Ter) c.*94T>G (n.*94T>G) c.*1360T>G (n.*1360T>G) c.1110T>G (p.Tyr370Ter) c.1446T>G (p.Tyr482Ter) c.1626T>G (p.Tyr542Ter) c.1293T>G (p.Tyr431Ter) n.221+1126A>C | |
7 | g.117559608G>A | CA368984799 | CFTR,CFTR-AS1 | c.1537G>A (p.Asp513Asn) c.*1251G>A (n.*1251G>A) c.1354G>A (p.Asp452Asn) c.*95G>A (n.*95G>A) c.*1361G>A (n.*1361G>A) c.1111G>A (p.Asp371Asn) c.1447G>A (p.Asp483Asn) c.1627G>A (p.Asp543Asn) c.1294G>A (p.Asp432Asn) n.221+1125C>T | COSMIC |
7 | g.117559608G>C | CA368984801 | CFTR,CFTR-AS1 | c.1537G>C (p.Asp513His) c.*1251G>C (n.*1251G>C) c.1354G>C (p.Asp452His) c.*95G>C (n.*95G>C) c.*1361G>C (n.*1361G>C) c.1111G>C (p.Asp371His) c.1447G>C (p.Asp483His) c.1627G>C (p.Asp543His) c.1294G>C (p.Asp432His) n.221+1125C>G | |
7 | g.117559608G= | CA1737384739 | CFTR,CFTR-AS1 | c.1537G= (p.Asp513=) c.*1251G= (n.*1251G=) c.1354G= (p.Asp452=) c.*95G= (n.*95G=) c.*1361G= (n.*1361G=) c.1111G= (p.Asp371=) c.1447G= (p.Asp483=) c.1627G= (p.Asp543=) c.1294G= (p.Asp432=) n.221+1125C= | |
7 | g.117559608G>T | CA4451018 | CFTR,CFTR-AS1 | c.1537G>T (p.Asp513Tyr) c.*1251G>T (n.*1251G>T) c.1354G>T (p.Asp452Tyr) c.*95G>T (n.*95G>T) c.*1361G>T (n.*1361G>T) c.1111G>T (p.Asp371Tyr) c.1447G>T (p.Asp483Tyr) c.1627G>T (p.Asp543Tyr) c.1294G>T (p.Asp432Tyr) n.221+1125C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117559609A= | CA1737384743 | CFTR,CFTR-AS1 | c.1538A= (p.Asp513=) c.*1252A= (n.*1252A=) c.1355A= (p.Asp452=) c.*96A= (n.*96A=) c.*1362A= (n.*1362A=) c.1112A= (p.Asp371=) c.1448A= (p.Asp483=) c.1628A= (p.Asp543=) c.1295A= (p.Asp432=) n.221+1124T= | |
7 | g.117559609A>C | CA368984804 | CFTR,CFTR-AS1 | c.1538A>C (p.Asp513Ala) c.*1252A>C (n.*1252A>C) c.1355A>C (p.Asp452Ala) c.*96A>C (n.*96A>C) c.*1362A>C (n.*1362A>C) c.1112A>C (p.Asp371Ala) c.1448A>C (p.Asp483Ala) c.1628A>C (p.Asp543Ala) c.1295A>C (p.Asp432Ala) n.221+1124T>G | |
7 | g.117559609A>G | CA326529 | CFTR,CFTR-AS1 | c.1538A>G (p.Asp513Gly) c.*1252A>G (n.*1252A>G) c.1355A>G (p.Asp452Gly) c.*96A>G (n.*96A>G) c.*1362A>G (n.*1362A>G) c.1112A>G (p.Asp371Gly) c.1448A>G (p.Asp483Gly) c.1628A>G (p.Asp543Gly) c.1295A>G (p.Asp432Gly) n.221+1124T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117559609A>T | CA368984805 | CFTR,CFTR-AS1 | c.1538A>T (p.Asp513Val) c.*1252A>T (n.*1252A>T) c.1355A>T (p.Asp452Val) c.*96A>T (n.*96A>T) c.*1362A>T (n.*1362A>T) c.1112A>T (p.Asp371Val) c.1448A>T (p.Asp483Val) c.1628A>T (p.Asp543Val) c.1295A>T (p.Asp432Val) n.221+1124T>A | |
7 | g.117559610T>A | CA368984806 | CFTR,CFTR-AS1 | c.1539T>A (p.Asp513Glu) c.*1253T>A (n.*1253T>A) c.1356T>A (p.Asp452Glu) c.*97T>A (n.*97T>A) c.*1363T>A (n.*1363T>A) c.1113T>A (p.Asp371Glu) c.1449T>A (p.Asp483Glu) c.1629T>A (p.Asp543Glu) c.1296T>A (p.Asp432Glu) n.221+1123A>T | gnomAD v4 |
7 | g.117559610T>C | CA457228880 | CFTR,CFTR-AS1 | c.1539T>C (p.Asp513=) c.*1253T>C (n.*1253T>C) c.1356T>C (p.Asp452=) c.*97T>C (n.*97T>C) c.*1363T>C (n.*1363T>C) c.1113T>C (p.Asp371=) c.1449T>C (p.Asp483=) c.1629T>C (p.Asp543=) c.1296T>C (p.Asp432=) n.221+1123A>G | ClinVar |
7 | g.117559610T>G | CA368984807 | CFTR,CFTR-AS1 | c.1539T>G (p.Asp513Glu) c.*1253T>G (n.*1253T>G) c.1356T>G (p.Asp452Glu) c.*97T>G (n.*97T>G) c.*1363T>G (n.*1363T>G) c.1113T>G (p.Asp371Glu) c.1449T>G (p.Asp483Glu) c.1629T>G (p.Asp543Glu) c.1296T>G (p.Asp432Glu) n.221+1123A>C | |
7 | g.117559610_117559623delinsTGAATATAGATACA | CA1737384750 | CFTR,CFTR-AS1 | c.1539_1552delinsTGAATATAGATACA (p.Asp513=) c.*1253_*1266delinsTGAATATAGATACA (n.*1253_*1266delinsTGAATATAGATACA) c.1356_1369delinsTGAATATAGATACA (p.Asp452=) c.*97_*110delinsTGAATATAGATACA (n.*97_*110delinsTGAATATAGATACA) c.*1363_*1376delinsTGAATATAGATACA (n.*1363_*1376delinsTGAATATAGATACA) c.1113_1126delinsTGAATATAGATACA (p.Asp371=) c.1449_1462delinsTGAATATAGATACA (p.Asp483=) c.1629_1642delinsTGAATATAGATACA (p.Asp543=) c.1296_1309delinsTGAATATAGATACA (p.Asp432=) n.221+1110_221+1123delinsTGTATCTATATTCA | |
7 | g.117559611G>A | CA368984810 | CFTR,CFTR-AS1 | c.1540G>A (p.Glu514Lys) c.*1254G>A (n.*1254G>A) c.1357G>A (p.Glu453Lys) c.*98G>A (n.*98G>A) c.*1364G>A (n.*1364G>A) c.1114G>A (p.Glu372Lys) c.1450G>A (p.Glu484Lys) c.1630G>A (p.Glu544Lys) c.1297G>A (p.Glu433Lys) n.221+1122C>T | |
7 | g.117559611G>C | CA368984812 | CFTR,CFTR-AS1 | c.1540G>C (p.Glu514Gln) c.*1254G>C (n.*1254G>C) c.1357G>C (p.Glu453Gln) c.*98G>C (n.*98G>C) c.*1364G>C (n.*1364G>C) c.1114G>C (p.Glu372Gln) c.1450G>C (p.Glu484Gln) c.1630G>C (p.Glu544Gln) c.1297G>C (p.Glu433Gln) n.221+1122C>G | |
7 | g.117559611G= | CA1737384761 | CFTR,CFTR-AS1 | c.1540G= (p.Glu514=) c.*1254G= (n.*1254G=) c.1357G= (p.Glu453=) c.*98G= (n.*98G=) c.*1364G= (n.*1364G=) c.1114G= (p.Glu372=) c.1450G= (p.Glu484=) c.1630G= (p.Glu544=) c.1297G= (p.Glu433=) n.221+1122C= | |
7 | g.117559611G>T | CA368984808 | CFTR,CFTR-AS1 | c.1540G>T (p.Glu514Ter) c.*1254G>T (n.*1254G>T) c.1357G>T (p.Glu453Ter) c.*98G>T (n.*98G>T) c.*1364G>T (n.*1364G>T) c.1114G>T (p.Glu372Ter) c.1450G>T (p.Glu484Ter) c.1630G>T (p.Glu544Ter) c.1297G>T (p.Glu433Ter) n.221+1122C>A | ClinVar dbSNP |
7 | g.117559614_117559626del | CA577218121 | CFTR,CFTR-AS1 | c.1543_1555del (p.Tyr515AlafsTer8) c.*1257_*1269del (n.*1257_*1269del) c.1360_1372del (p.Tyr454AlafsTer8) c.*101_*113del (n.*101_*113del) c.*1367_*1379del (n.*1367_*1379del) c.1117_1129del (p.Tyr373AlafsTer8) c.1453_1465del (p.Tyr485AlafsTer8) c.1633_1645del (p.Tyr545AlafsTer8) c.1300_1312del (p.Tyr434AlafsTer8) n.221+1110_221+1122del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117559612A= | CA1737384768 | CFTR,CFTR-AS1 | c.1541A= (p.Glu514=) c.*1255A= (n.*1255A=) c.1358A= (p.Glu453=) c.*99A= (n.*99A=) c.*1365A= (n.*1365A=) c.1115A= (p.Glu372=) c.1451A= (p.Glu484=) c.1631A= (p.Glu544=) c.1298A= (p.Glu433=) n.221+1121T= | |
7 | g.117559612A>C | CA368984813 | CFTR,CFTR-AS1 | c.1541A>C (p.Glu514Ala) c.*1255A>C (n.*1255A>C) c.1358A>C (p.Glu453Ala) c.*99A>C (n.*99A>C) c.*1365A>C (n.*1365A>C) c.1115A>C (p.Glu372Ala) c.1451A>C (p.Glu484Ala) c.1631A>C (p.Glu544Ala) c.1298A>C (p.Glu433Ala) n.221+1121T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117559612A>G | CA368984815 | CFTR,CFTR-AS1 | c.1541A>G (p.Glu514Gly) c.*1255A>G (n.*1255A>G) c.1358A>G (p.Glu453Gly) c.*99A>G (n.*99A>G) c.*1365A>G (n.*1365A>G) c.1115A>G (p.Glu372Gly) c.1451A>G (p.Glu484Gly) c.1631A>G (p.Glu544Gly) c.1298A>G (p.Glu433Gly) n.221+1121T>C | ClinVar |
7 | g.117559612A>T | CA368984816 | CFTR,CFTR-AS1 | c.1541A>T (p.Glu514Val) c.*1255A>T (n.*1255A>T) c.1358A>T (p.Glu453Val) c.*99A>T (n.*99A>T) c.*1365A>T (n.*1365A>T) c.1115A>T (p.Glu372Val) c.1451A>T (p.Glu484Val) c.1631A>T (p.Glu544Val) c.1298A>T (p.Glu433Val) n.221+1121T>A | |
7 | g.117559612_117559614delinsAAT | CA1737384767 | CFTR,CFTR-AS1 | c.1541_1543delinsAAT (p.Glu514=) c.*1255_*1257delinsAAT (n.*1255_*1257delinsAAT) c.1358_1360delinsAAT (p.Glu453=) c.*99_*101delinsAAT (n.*99_*101delinsAAT) c.*1365_*1367delinsAAT (n.*1365_*1367delinsAAT) c.1115_1117delinsAAT (p.Glu372=) c.1451_1453delinsAAT (p.Glu484=) c.1631_1633delinsAAT (p.Glu544=) c.1298_1300delinsAAT (p.Glu433=) n.221+1119_221+1121delinsATT | |
7 | g.117559613A= | CA1737384779 | CFTR,CFTR-AS1 | c.1542A= (p.Glu514=) c.*1256A= (n.*1256A=) c.1359A= (p.Glu453=) c.*100A= (n.*100A=) c.*1366A= (n.*1366A=) c.1116A= (p.Glu372=) c.1452A= (p.Glu484=) c.1632A= (p.Glu544=) c.1299A= (p.Glu433=) n.221+1120T= | |
7 | g.117559613A>C | CA164967800 | CFTR,CFTR-AS1 | c.1542A>C (p.Glu514Asp) c.*1256A>C (n.*1256A>C) c.1359A>C (p.Glu453Asp) c.*100A>C (n.*100A>C) c.*1366A>C (n.*1366A>C) c.1116A>C (p.Glu372Asp) c.1452A>C (p.Glu484Asp) c.1632A>C (p.Glu544Asp) c.1299A>C (p.Glu433Asp) n.221+1120T>G | ClinVar dbSNP gnomAD v4 |
7 | g.117559613A>G | CA457228881 | CFTR,CFTR-AS1 | c.1542A>G (p.Glu514=) c.*1256A>G (n.*1256A>G) c.1359A>G (p.Glu453=) c.*100A>G (n.*100A>G) c.*1366A>G (n.*1366A>G) c.1116A>G (p.Glu372=) c.1452A>G (p.Glu484=) c.1632A>G (p.Glu544=) c.1299A>G (p.Glu433=) n.221+1120T>C | ClinVar gnomAD v4 |
7 | g.117559613A>T | CA368984820 | CFTR,CFTR-AS1 | c.1542A>T (p.Glu514Asp) c.*1256A>T (n.*1256A>T) c.1359A>T (p.Glu453Asp) c.*100A>T (n.*100A>T) c.*1366A>T (n.*1366A>T) c.1116A>T (p.Glu372Asp) c.1452A>T (p.Glu484Asp) c.1632A>T (p.Glu544Asp) c.1299A>T (p.Glu433Asp) n.221+1120T>A | |
7 | g.117559616_117559617del | CA325535 | CFTR,CFTR-AS1 | c.1545_1546del (p.Tyr515Ter) c.*1259_*1260del (n.*1259_*1260del) c.1362_1363del (p.Tyr454Ter) c.*103_*104del (n.*103_*104del) c.*1369_*1370del (n.*1369_*1370del) c.1119_1120del (p.Tyr373Ter) c.1455_1456del (p.Tyr485Ter) c.1635_1636del (p.Tyr545Ter) c.1302_1303del (p.Tyr434Ter) n.221+1119_221+1120del | ClinVar dbSNP gnomAD v4 |
7 | g.117559614T>A | CA368984826 | CFTR,CFTR-AS1 | c.1543T>A (p.Tyr515Asn) c.*1257T>A (n.*1257T>A) c.1360T>A (p.Tyr454Asn) c.*101T>A (n.*101T>A) c.*1367T>A (n.*1367T>A) c.1117T>A (p.Tyr373Asn) c.1453T>A (p.Tyr485Asn) c.1633T>A (p.Tyr545Asn) c.1300T>A (p.Tyr434Asn) n.221+1119A>T | |
7 | g.117559614T>C | CA4451019 | CFTR,CFTR-AS1 | c.1543T>C (p.Tyr515His) c.*1257T>C (n.*1257T>C) c.1360T>C (p.Tyr454His) c.*101T>C (n.*101T>C) c.*1367T>C (n.*1367T>C) c.1117T>C (p.Tyr373His) c.1453T>C (p.Tyr485His) c.1633T>C (p.Tyr545His) c.1300T>C (p.Tyr434His) n.221+1119A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117559614T>G | CA368984829 | CFTR,CFTR-AS1 | c.1543T>G (p.Tyr515Asp) c.*1257T>G (n.*1257T>G) c.1360T>G (p.Tyr454Asp) c.*101T>G (n.*101T>G) c.*1367T>G (n.*1367T>G) c.1117T>G (p.Tyr373Asp) c.1453T>G (p.Tyr485Asp) c.1633T>G (p.Tyr545Asp) c.1300T>G (p.Tyr434Asp) n.221+1119A>C | ClinVar |
7 | g.117559614T= | CA1737384784 | CFTR,CFTR-AS1 | c.1543T= (p.Tyr515=) c.*1257T= (n.*1257T=) c.1360T= (p.Tyr454=) c.*101T= (n.*101T=) c.*1367T= (n.*1367T=) c.1117T= (p.Tyr373=) c.1453T= (p.Tyr485=) c.1633T= (p.Tyr545=) c.1300T= (p.Tyr434=) n.221+1119A= | |
7 | g.117559615A= | CA1737384789 | CFTR,CFTR-AS1 | c.1544A= (p.Tyr515=) c.*1258A= (n.*1258A=) c.1361A= (p.Tyr454=) c.*102A= (n.*102A=) c.*1368A= (n.*1368A=) c.1118A= (p.Tyr373=) c.1454A= (p.Tyr485=) c.1634A= (p.Tyr545=) c.1301A= (p.Tyr434=) n.221+1118T= | |
7 | g.117559615A>C | CA368984831 | CFTR,CFTR-AS1 | c.1544A>C (p.Tyr515Ser) c.*1258A>C (n.*1258A>C) c.1361A>C (p.Tyr454Ser) c.*102A>C (n.*102A>C) c.*1368A>C (n.*1368A>C) c.1118A>C (p.Tyr373Ser) c.1454A>C (p.Tyr485Ser) c.1634A>C (p.Tyr545Ser) c.1301A>C (p.Tyr434Ser) n.221+1118T>G | |
7 | g.117559615A>G | CA368984834 | CFTR,CFTR-AS1 | c.1544A>G (p.Tyr515Cys) c.*1258A>G (n.*1258A>G) c.1361A>G (p.Tyr454Cys) c.*102A>G (n.*102A>G) c.*1368A>G (n.*1368A>G) c.1118A>G (p.Tyr373Cys) c.1454A>G (p.Tyr485Cys) c.1634A>G (p.Tyr545Cys) c.1301A>G (p.Tyr434Cys) n.221+1118T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117559615A>T | CA368984837 | CFTR,CFTR-AS1 | c.1544A>T (p.Tyr515Phe) c.*1258A>T (n.*1258A>T) c.1361A>T (p.Tyr454Phe) c.*102A>T (n.*102A>T) c.*1368A>T (n.*1368A>T) c.1118A>T (p.Tyr373Phe) c.1454A>T (p.Tyr485Phe) c.1634A>T (p.Tyr545Phe) c.1301A>T (p.Tyr434Phe) n.221+1118T>A | |
7 | g.117559618_117559621del | CA2580076322 | CFTR,CFTR-AS1 | c.1547_1550del (p.Arg516ThrfsTer10) c.*1261_*1264del (n.*1261_*1264del) c.1364_1367del (p.Arg455ThrfsTer10) c.*105_*108del (n.*105_*108del) c.*1371_*1374del (n.*1371_*1374del) c.1121_1124del (p.Arg374ThrfsTer10) c.1457_1460del (p.Arg486ThrfsTer10) c.1637_1640del (p.Arg546ThrfsTer10) c.1304_1307del (p.Arg435ThrfsTer10) n.221+1115_221+1118del | ClinVar |
7 | g.117559616T>A | CA368984844 | CFTR,CFTR-AS1 | c.1545T>A (p.Tyr515Ter) c.*1259T>A (n.*1259T>A) c.1362T>A (p.Tyr454Ter) c.*103T>A (n.*103T>A) c.*1369T>A (n.*1369T>A) c.1119T>A (p.Tyr373Ter) c.1455T>A (p.Tyr485Ter) c.1635T>A (p.Tyr545Ter) c.1302T>A (p.Tyr434Ter) n.221+1117A>T | |
7 | g.117559616T>C | CA4451020 | CFTR,CFTR-AS1 | c.1545T>C (p.Tyr515=) c.*1259T>C (n.*1259T>C) c.1362T>C (p.Tyr454=) c.*103T>C (n.*103T>C) c.*1369T>C (n.*1369T>C) c.1119T>C (p.Tyr373=) c.1455T>C (p.Tyr485=) c.1635T>C (p.Tyr545=) c.1302T>C (p.Tyr434=) n.221+1117A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117559616T>G | CA368984841 | CFTR,CFTR-AS1 | c.1545T>G (p.Tyr515Ter) c.*1259T>G (n.*1259T>G) c.1362T>G (p.Tyr454Ter) c.*103T>G (n.*103T>G) c.*1369T>G (n.*1369T>G) c.1119T>G (p.Tyr373Ter) c.1455T>G (p.Tyr485Ter) c.1635T>G (p.Tyr545Ter) c.1302T>G (p.Tyr434Ter) n.221+1117A>C | |
7 | g.117559616T= | CA1737384797 | CFTR,CFTR-AS1 | c.1545T= (p.Tyr515=) c.*1259T= (n.*1259T=) c.1362T= (p.Tyr454=) c.*103T= (n.*103T=) c.*1369T= (n.*1369T=) c.1119T= (p.Tyr373=) c.1455T= (p.Tyr485=) c.1635T= (p.Tyr545=) c.1302T= (p.Tyr434=) n.221+1117A= | |
7 | g.117559616_117559619delinsTAGA | CA1737384801 | CFTR,CFTR-AS1 | c.1545_1548delinsTAGA (p.Tyr515=) c.*1259_*1262delinsTAGA (n.*1259_*1262delinsTAGA) c.1362_1365delinsTAGA (p.Tyr454=) c.*103_*106delinsTAGA (n.*103_*106delinsTAGA) c.*1369_*1372delinsTAGA (n.*1369_*1372delinsTAGA) c.1119_1122delinsTAGA (p.Tyr373=) c.1455_1458delinsTAGA (p.Tyr485=) c.1635_1638delinsTAGA (p.Tyr545=) c.1302_1305delinsTAGA (p.Tyr434=) n.221+1114_221+1117delinsTCTA | |
7 | g.117559617A= | CA1737384814 | CFTR,CFTR-AS1 | c.1546A= (p.Arg516=) c.*1260A= (n.*1260A=) c.1363A= (p.Arg455=) c.*104A= (n.*104A=) c.*1370A= (n.*1370A=) c.1120A= (p.Arg374=) c.1456A= (p.Arg486=) c.1636A= (p.Arg546=) c.1303A= (p.Arg435=) n.221+1116T= | |
7 | g.117559617A>C | CA457228882 | CFTR,CFTR-AS1 | c.1546A>C (p.Arg516=) c.*1260A>C (n.*1260A>C) c.1363A>C (p.Arg455=) c.*104A>C (n.*104A>C) c.*1370A>C (n.*1370A>C) c.1120A>C (p.Arg374=) c.1456A>C (p.Arg486=) c.1636A>C (p.Arg546=) c.1303A>C (p.Arg435=) n.221+1116T>G | |
7 | g.117559617A>G | CA326530 | CFTR,CFTR-AS1 | c.1546A>G (p.Arg516Gly) c.*1260A>G (n.*1260A>G) c.1363A>G (p.Arg455Gly) c.*104A>G (n.*104A>G) c.*1370A>G (n.*1370A>G) c.1120A>G (p.Arg374Gly) c.1456A>G (p.Arg486Gly) c.1636A>G (p.Arg546Gly) c.1303A>G (p.Arg435Gly) n.221+1116T>C | ClinVar dbSNP |
7 | g.117559617A>T | CA368984847 | CFTR,CFTR-AS1 | c.1546A>T (p.Arg516Ter) c.*1260A>T (n.*1260A>T) c.1363A>T (p.Arg455Ter) c.*104A>T (n.*104A>T) c.*1370A>T (n.*1370A>T) c.1120A>T (p.Arg374Ter) c.1456A>T (p.Arg486Ter) c.1636A>T (p.Arg546Ter) c.1303A>T (p.Arg435Ter) n.221+1116T>A | |
7 | g.117559617_117559619delinsT | CA1139660108 | CFTR,CFTR-AS1 | c.1546_1548delinsT (p.Arg516LeufsTer?) c.*1260_*1262delinsT (n.*1260_*1262delinsT) c.1363_1365delinsT (p.Arg455LeufsTer?) c.*104_*106delinsT (n.*104_*106delinsT) c.*1370_*1372delinsT (n.*1370_*1372delinsT) c.1120_1122delinsT (p.Arg374LeufsTer?) c.1456_1458delinsT (p.Arg486LeufsTer?) c.1636_1638delinsT (p.Arg546LeufsTer?) c.1303_1305delinsT (p.Arg435LeufsTer?) n.221+1114_221+1116delinsA | ClinVar dbSNP |
7 | g.117559618_117559619del | CA913190001 | CFTR,CFTR-AS1 | c.1547_1548del (p.Arg516IlefsTer?) c.*1261_*1262del (n.*1261_*1262del) c.1364_1365del (p.Arg455IlefsTer?) c.*105_*106del (n.*105_*106del) c.*1371_*1372del (n.*1371_*1372del) c.1121_1122del (p.Arg374IlefsTer?) c.1457_1458del (p.Arg486IlefsTer?) c.1637_1638del (p.Arg546IlefsTer?) c.1304_1305del (p.Arg435IlefsTer?) n.221+1115_221+1116del | ClinVar dbSNP |
7 | g.117559618G>A | CA368984849 | CFTR,CFTR-AS1 | c.1547G>A (p.Arg516Lys) c.*1261G>A (n.*1261G>A) c.1364G>A (p.Arg455Lys) c.*105G>A (n.*105G>A) c.*1371G>A (n.*1371G>A) c.1121G>A (p.Arg374Lys) c.1457G>A (p.Arg486Lys) c.1637G>A (p.Arg546Lys) c.1304G>A (p.Arg435Lys) n.221+1115C>T | |
7 | g.117559618G>C | CA368984850 | CFTR,CFTR-AS1 | c.1547G>C (p.Arg516Thr) c.*1261G>C (n.*1261G>C) c.1364G>C (p.Arg455Thr) c.*105G>C (n.*105G>C) c.*1371G>C (n.*1371G>C) c.1121G>C (p.Arg374Thr) c.1457G>C (p.Arg486Thr) c.1637G>C (p.Arg546Thr) c.1304G>C (p.Arg435Thr) n.221+1115C>G | |
7 | g.117559618G>T | CA368984852 | CFTR,CFTR-AS1 | c.1547G>T (p.Arg516Ile) c.*1261G>T (n.*1261G>T) c.1364G>T (p.Arg455Ile) c.*105G>T (n.*105G>T) c.*1371G>T (n.*1371G>T) c.1121G>T (p.Arg374Ile) c.1457G>T (p.Arg486Ile) c.1637G>T (p.Arg546Ile) c.1304G>T (p.Arg435Ile) n.221+1115C>A | ClinVar |
7 | g.117559619A>C | CA368984854 | CFTR,CFTR-AS1 | c.1548A>C (p.Arg516Ser) c.*1262A>C (n.*1262A>C) c.1365A>C (p.Arg455Ser) c.*106A>C (n.*106A>C) c.*1372A>C (n.*1372A>C) c.1122A>C (p.Arg374Ser) c.1458A>C (p.Arg486Ser) c.1638A>C (p.Arg546Ser) c.1305A>C (p.Arg435Ser) n.221+1114T>G | gnomAD v4 |
7 | g.117559619A>G | CA457228883 | CFTR,CFTR-AS1 | c.1548A>G (p.Arg516=) c.*1262A>G (n.*1262A>G) c.1365A>G (p.Arg455=) c.*106A>G (n.*106A>G) c.*1372A>G (n.*1372A>G) c.1122A>G (p.Arg374=) c.1458A>G (p.Arg486=) c.1638A>G (p.Arg546=) c.1305A>G (p.Arg435=) n.221+1114T>C | |
7 | g.117559619A>T | CA368984855 | CFTR,CFTR-AS1 | c.1548A>T (p.Arg516Ser) c.*1262A>T (n.*1262A>T) c.1365A>T (p.Arg455Ser) c.*106A>T (n.*106A>T) c.*1372A>T (n.*1372A>T) c.1122A>T (p.Arg374Ser) c.1458A>T (p.Arg486Ser) c.1638A>T (p.Arg546Ser) c.1305A>T (p.Arg435Ser) n.221+1114T>A | |
7 | g.117559620T>A | CA368984858 | CFTR,CFTR-AS1 | c.1549T>A (p.Tyr517Asn) c.*1263T>A (n.*1263T>A) c.1366T>A (p.Tyr456Asn) c.*107T>A (n.*107T>A) c.*1373T>A (n.*1373T>A) c.1123T>A (p.Tyr375Asn) c.1459T>A (p.Tyr487Asn) c.1639T>A (p.Tyr547Asn) c.1306T>A (p.Tyr436Asn) n.221+1113A>T | |
7 | g.117559620T>C | CA368984860 | CFTR,CFTR-AS1 | c.1549T>C (p.Tyr517His) c.*1263T>C (n.*1263T>C) c.1366T>C (p.Tyr456His) c.*107T>C (n.*107T>C) c.*1373T>C (n.*1373T>C) c.1123T>C (p.Tyr375His) c.1459T>C (p.Tyr487His) c.1639T>C (p.Tyr547His) c.1306T>C (p.Tyr436His) n.221+1113A>G | |
7 | g.117559620T>G | CA368984863 | CFTR,CFTR-AS1 | c.1549T>G (p.Tyr517Asp) c.*1263T>G (n.*1263T>G) c.1366T>G (p.Tyr456Asp) c.*107T>G (n.*107T>G) c.*1373T>G (n.*1373T>G) c.1123T>G (p.Tyr375Asp) c.1459T>G (p.Tyr487Asp) c.1639T>G (p.Tyr547Asp) c.1306T>G (p.Tyr436Asp) n.221+1113A>C | |
7 | g.117559621A= | CA1737384820 | CFTR,CFTR-AS1 | c.1550A= (p.Tyr517=) c.*1264A= (n.*1264A=) c.1367A= (p.Tyr456=) c.*108A= (n.*108A=) c.*1374A= (n.*1374A=) c.1124A= (p.Tyr375=) c.1460A= (p.Tyr487=) c.1640A= (p.Tyr547=) c.1307A= (p.Tyr436=) n.221+1112T= | |
7 | g.117559621A>C | CA368984865 | CFTR,CFTR-AS1 | c.1550A>C (p.Tyr517Ser) c.*1264A>C (n.*1264A>C) c.1367A>C (p.Tyr456Ser) c.*108A>C (n.*108A>C) c.*1374A>C (n.*1374A>C) c.1124A>C (p.Tyr375Ser) c.1460A>C (p.Tyr487Ser) c.1640A>C (p.Tyr547Ser) c.1307A>C (p.Tyr436Ser) n.221+1112T>G | ClinVar |
7 | g.117559621A>G | CA368984867 | CFTR,CFTR-AS1 | c.1550A>G (p.Tyr517Cys) c.*1264A>G (n.*1264A>G) c.1367A>G (p.Tyr456Cys) c.*108A>G (n.*108A>G) c.*1374A>G (n.*1374A>G) c.1124A>G (p.Tyr375Cys) c.1460A>G (p.Tyr487Cys) c.1640A>G (p.Tyr547Cys) c.1307A>G (p.Tyr436Cys) n.221+1112T>C | ClinVar dbSNP |
7 | g.117559621A>T | CA368984869 | CFTR,CFTR-AS1 | c.1550A>T (p.Tyr517Phe) c.*1264A>T (n.*1264A>T) c.1367A>T (p.Tyr456Phe) c.*108A>T (n.*108A>T) c.*1374A>T (n.*1374A>T) c.1124A>T (p.Tyr375Phe) c.1460A>T (p.Tyr487Phe) c.1640A>T (p.Tyr547Phe) c.1307A>T (p.Tyr436Phe) n.221+1112T>A | |
7 | g.117559622C>A | CA368984871 | CFTR,CFTR-AS1 | c.1551C>A (p.Tyr517Ter) c.*1265C>A (n.*1265C>A) c.1368C>A (p.Tyr456Ter) c.*109C>A (n.*109C>A) c.*1375C>A (n.*1375C>A) c.1125C>A (p.Tyr375Ter) c.1461C>A (p.Tyr487Ter) c.1641C>A (p.Tyr547Ter) c.1308C>A (p.Tyr436Ter) n.221+1111G>T | |
7 | g.117559622C>G | CA368984878 | CFTR,CFTR-AS1 | c.1551C>G (p.Tyr517Ter) c.*1265C>G (n.*1265C>G) c.1368C>G (p.Tyr456Ter) c.*109C>G (n.*109C>G) c.*1375C>G (n.*1375C>G) c.1125C>G (p.Tyr375Ter) c.1461C>G (p.Tyr487Ter) c.1641C>G (p.Tyr547Ter) c.1308C>G (p.Tyr436Ter) n.221+1111G>C | ClinVar dbSNP |
7 | g.117559622C>T | CA457228884 | CFTR,CFTR-AS1 | c.1551C>T (p.Tyr517=) c.*1265C>T (n.*1265C>T) c.1368C>T (p.Tyr456=) c.*109C>T (n.*109C>T) c.*1375C>T (n.*1375C>T) c.1125C>T (p.Tyr375=) c.1461C>T (p.Tyr487=) c.1641C>T (p.Tyr547=) c.1308C>T (p.Tyr436=) n.221+1111G>A | ClinVar |
7 | g.117559623A= | CA1737384829 | CFTR,CFTR-AS1 | c.1552A= (p.Arg518=) c.*1266A= (n.*1266A=) c.1369A= (p.Arg457=) c.*110A= (n.*110A=) c.*1376A= (n.*1376A=) c.1126A= (p.Arg376=) c.1462A= (p.Arg488=) c.1642A= (p.Arg548=) c.1309A= (p.Arg437=) n.221+1110T= | |
7 | g.117559623A>C | CA457228886 | CFTR,CFTR-AS1 | c.1552A>C (p.Arg518=) c.*1266A>C (n.*1266A>C) c.1369A>C (p.Arg457=) c.*110A>C (n.*110A>C) c.*1376A>C (n.*1376A>C) c.1126A>C (p.Arg376=) c.1462A>C (p.Arg488=) c.1642A>C (p.Arg548=) c.1309A>C (p.Arg437=) n.221+1110T>G | |
7 | g.117559623A>G | CA368984882 | CFTR,CFTR-AS1 | c.1552A>G (p.Arg518Gly) c.*1266A>G (n.*1266A>G) c.1369A>G (p.Arg457Gly) c.*110A>G (n.*110A>G) c.*1376A>G (n.*1376A>G) c.1126A>G (p.Arg376Gly) c.1462A>G (p.Arg488Gly) c.1642A>G (p.Arg548Gly) c.1309A>G (p.Arg437Gly) n.221+1110T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117559623A>T | CA368984884 | CFTR,CFTR-AS1 | c.1552A>T (p.Arg518Ter) c.*1266A>T (n.*1266A>T) c.1369A>T (p.Arg457Ter) c.*110A>T (n.*110A>T) c.*1376A>T (n.*1376A>T) c.1126A>T (p.Arg376Ter) c.1462A>T (p.Arg488Ter) c.1642A>T (p.Arg548Ter) c.1309A>T (p.Arg437Ter) n.221+1110T>A | |
7 | g.117559624G>A | CA368984886 | CFTR,CFTR-AS1 | c.1553G>A (p.Arg518Lys) c.*1267G>A (n.*1267G>A) c.1370G>A (p.Arg457Lys) c.*111G>A (n.*111G>A) c.*1377G>A (n.*1377G>A) c.1127G>A (p.Arg376Lys) c.1463G>A (p.Arg488Lys) c.1643G>A (p.Arg548Lys) c.1310G>A (p.Arg437Lys) n.221+1109C>T | |
7 | g.117559624G>C | CA368984890 | CFTR,CFTR-AS1 | c.1553G>C (p.Arg518Thr) c.*1267G>C (n.*1267G>C) c.1370G>C (p.Arg457Thr) c.*111G>C (n.*111G>C) c.*1377G>C (n.*1377G>C) c.1127G>C (p.Arg376Thr) c.1463G>C (p.Arg488Thr) c.1643G>C (p.Arg548Thr) c.1310G>C (p.Arg437Thr) n.221+1109C>G | |
7 | g.117559624G>T | CA368984888 | CFTR,CFTR-AS1 | c.1553G>T (p.Arg518Ile) c.*1267G>T (n.*1267G>T) c.1370G>T (p.Arg457Ile) c.*111G>T (n.*111G>T) c.*1377G>T (n.*1377G>T) c.1127G>T (p.Arg376Ile) c.1463G>T (p.Arg488Ile) c.1643G>T (p.Arg548Ile) c.1310G>T (p.Arg437Ile) n.221+1109C>A | |
7 | g.117559625A>C | CA368984892 | CFTR,CFTR-AS1 | c.1554A>C (p.Arg518Ser) c.*1268A>C (n.*1268A>C) c.1371A>C (p.Arg457Ser) c.*112A>C (n.*112A>C) c.*1378A>C (n.*1378A>C) c.1128A>C (p.Arg376Ser) c.1464A>C (p.Arg488Ser) c.1644A>C (p.Arg548Ser) c.1311A>C (p.Arg437Ser) n.221+1108T>G | |
7 | g.117559625A>G | CA457228887 | CFTR,CFTR-AS1 | c.1554A>G (p.Arg518=) c.*1268A>G (n.*1268A>G) c.1371A>G (p.Arg457=) c.*112A>G (n.*112A>G) c.*1378A>G (n.*1378A>G) c.1128A>G (p.Arg376=) c.1464A>G (p.Arg488=) c.1644A>G (p.Arg548=) c.1311A>G (p.Arg437=) n.221+1108T>C | |
7 | g.117559625A>T | CA368984893 | CFTR,CFTR-AS1 | c.1554A>T (p.Arg518Ser) c.*1268A>T (n.*1268A>T) c.1371A>T (p.Arg457Ser) c.*112A>T (n.*112A>T) c.*1378A>T (n.*1378A>T) c.1128A>T (p.Arg376Ser) c.1464A>T (p.Arg488Ser) c.1644A>T (p.Arg548Ser) c.1311A>T (p.Arg437Ser) n.221+1108T>A | |
7 | g.117559626A= | CA1737384833 | CFTR,CFTR-AS1 | c.1555A= (p.Ser519=) c.*1269A= (n.*1269A=) c.1372A= (p.Ser458=) c.*113A= (n.*113A=) c.*1379A= (n.*1379A=) c.1129A= (p.Ser377=) c.1465A= (p.Ser489=) c.1645A= (p.Ser549=) c.1312A= (p.Ser438=) n.221+1107T= | |
7 | g.117559626A>C | CA368984894 | CFTR,CFTR-AS1 | c.1555A>C (p.Ser519Arg) c.*1269A>C (n.*1269A>C) c.1372A>C (p.Ser458Arg) c.*113A>C (n.*113A>C) c.*1379A>C (n.*1379A>C) c.1129A>C (p.Ser377Arg) c.1465A>C (p.Ser489Arg) c.1645A>C (p.Ser549Arg) c.1312A>C (p.Ser438Arg) n.221+1107T>G | gnomAD v4 |
7 | g.117559626A>G | CA368984895 | CFTR,CFTR-AS1 | c.1555A>G (p.Ser519Gly) c.*1269A>G (n.*1269A>G) c.1372A>G (p.Ser458Gly) c.*113A>G (n.*113A>G) c.*1379A>G (n.*1379A>G) c.1129A>G (p.Ser377Gly) c.1465A>G (p.Ser489Gly) c.1645A>G (p.Ser549Gly) c.1312A>G (p.Ser438Gly) n.221+1107T>C | dbSNP gnomAD v4 |
7 | g.117559626A>T | CA368984896 | CFTR,CFTR-AS1 | c.1555A>T (p.Ser519Cys) c.*1269A>T (n.*1269A>T) c.1372A>T (p.Ser458Cys) c.*113A>T (n.*113A>T) c.*1379A>T (n.*1379A>T) c.1129A>T (p.Ser377Cys) c.1465A>T (p.Ser489Cys) c.1645A>T (p.Ser549Cys) c.1312A>T (p.Ser438Cys) n.221+1107T>A | |
7 | g.117559627G>A | CA368984897 | CFTR,CFTR-AS1 | c.1556G>A (p.Ser519Asn) c.*1270G>A (n.*1270G>A) c.1373G>A (p.Ser458Asn) c.*114G>A (n.*114G>A) c.*1380G>A (n.*1380G>A) c.1130G>A (p.Ser377Asn) c.1466G>A (p.Ser489Asn) c.1646G>A (p.Ser549Asn) c.1313G>A (p.Ser438Asn) n.221+1106C>T | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117559627G>C | CA368984898 | CFTR,CFTR-AS1 | c.1556G>C (p.Ser519Thr) c.*1270G>C (n.*1270G>C) c.1373G>C (p.Ser458Thr) c.*114G>C (n.*114G>C) c.*1380G>C (n.*1380G>C) c.1130G>C (p.Ser377Thr) c.1466G>C (p.Ser489Thr) c.1646G>C (p.Ser549Thr) c.1313G>C (p.Ser438Thr) n.221+1106C>G | |
7 | g.117559627G= | CA1737384837 | CFTR,CFTR-AS1 | c.1556G= (p.Ser519=) c.*1270G= (n.*1270G=) c.1373G= (p.Ser458=) c.*114G= (n.*114G=) c.*1380G= (n.*1380G=) c.1130G= (p.Ser377=) c.1466G= (p.Ser489=) c.1646G= (p.Ser549=) c.1313G= (p.Ser438=) n.221+1106C= | |
7 | g.117559627G>T | CA368984899 | CFTR,CFTR-AS1 | c.1556G>T (p.Ser519Ile) c.*1270G>T (n.*1270G>T) c.1373G>T (p.Ser458Ile) c.*114G>T (n.*114G>T) c.*1380G>T (n.*1380G>T) c.1130G>T (p.Ser377Ile) c.1466G>T (p.Ser489Ile) c.1646G>T (p.Ser549Ile) c.1313G>T (p.Ser438Ile) n.221+1106C>A | |
7 | g.117559628C>A | CA368984901 | CFTR,CFTR-AS1 | c.1557C>A (p.Ser519Arg) c.*1271C>A (n.*1271C>A) c.1374C>A (p.Ser458Arg) c.*115C>A (n.*115C>A) c.*1381C>A (n.*1381C>A) c.1131C>A (p.Ser377Arg) c.1467C>A (p.Ser489Arg) c.1647C>A (p.Ser549Arg) c.1314C>A (p.Ser438Arg) n.221+1105G>T | |
7 | g.117559628C= | CA1737384842 | CFTR,CFTR-AS1 | c.1557C= (p.Ser519=) c.*1271C= (n.*1271C=) c.1374C= (p.Ser458=) c.*115C= (n.*115C=) c.*1381C= (n.*1381C=) c.1131C= (p.Ser377=) c.1467C= (p.Ser489=) c.1647C= (p.Ser549=) c.1314C= (p.Ser438=) n.221+1105G= | |
7 | g.117559628C>G | CA368984903 | CFTR,CFTR-AS1 | c.1557C>G (p.Ser519Arg) c.*1271C>G (n.*1271C>G) c.1374C>G (p.Ser458Arg) c.*115C>G (n.*115C>G) c.*1381C>G (n.*1381C>G) c.1131C>G (p.Ser377Arg) c.1467C>G (p.Ser489Arg) c.1647C>G (p.Ser549Arg) c.1314C>G (p.Ser438Arg) n.221+1105G>C | ClinVar |
7 | g.117559628C>T | CA4451021 | CFTR,CFTR-AS1 | c.1557C>T (p.Ser519=) c.*1271C>T (n.*1271C>T) c.1374C>T (p.Ser458=) c.*115C>T (n.*115C>T) c.*1381C>T (n.*1381C>T) c.1131C>T (p.Ser377=) c.1467C>T (p.Ser489=) c.1647C>T (p.Ser549=) c.1314C>T (p.Ser438=) n.221+1105G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |