Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.117559550_117559565delinsCCTTCA2695208321CFTR,CFTR-AS1c.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
7g.117559558G>ACA326501CFTR,CFTR-AS1c.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
7g.117559558G>CCA368984574CFTR,CFTR-AS1c.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
7g.117559558G=CA1737384487CFTR,CFTR-AS1c.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=
7g.117559558G>TCA368984576CFTR,CFTR-AS1c.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
7g.117559559G>ACA164967727CFTR,CFTR-AS1c.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
7g.117559559G>CCA164967729CFTR,CFTR-AS1c.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
7g.117559559G=CA1737384490CFTR,CFTR-AS1c.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=
7g.117559559G>TCA368984578CFTR,CFTR-AS1c.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
7g.117559560A>CCA368984580CFTR,CFTR-AS1c.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
7g.117559560A>GCA368984581CFTR,CFTR-AS1c.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
7g.117559560A>TCA368984582CFTR,CFTR-AS1c.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
7g.117559564_117559578delCA2573052806CFTR,CFTR-AS1c.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
7g.117559561T>ACA368984584CFTR,CFTR-AS1c.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
7g.117559561T>CCA368984586CFTR,CFTR-AS1c.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
7g.117559561T>GCA368984588CFTR,CFTR-AS1c.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
7g.117559561T=CA1737384498CFTR,CFTR-AS1c.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=
7g.117559562T>ACA457228824CFTR,CFTR-AS1c.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
7g.117559562T>CCA457228825CFTR,CFTR-AS1c.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
7g.117559562T>GCA368984590CFTR,CFTR-AS1c.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
7g.117559563A=CA1737384505CFTR,CFTR-AS1c.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=
7g.117559563A>CCA368984592CFTR,CFTR-AS1c.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
7g.117559563A>GCA368984594CFTR,CFTR-AS1c.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
7g.117559563A>TCA368984596CFTR,CFTR-AS1c.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
7g.117559564T>ACA368984597CFTR,CFTR-AS1c.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
7g.117559564T>CCA368984599CFTR,CFTR-AS1c.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
7g.117559564T>GCA368984601CFTR,CFTR-AS1c.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
7g.117559564T=CA1737384508CFTR,CFTR-AS1c.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=
7g.117559565G>ACA368984604CFTR,CFTR-AS1c.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
7g.117559565G>CCA326505CFTR,CFTR-AS1c.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
7g.117559565G=CA1737384513CFTR,CFTR-AS1c.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=
7g.117559565G>TCA368984603CFTR,CFTR-AS1c.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
7g.117559566C>ACA368984605CFTR,CFTR-AS1c.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
7g.117559566C=CA1737384520CFTR,CFTR-AS1c.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=
7g.117559566C>GCA326507CFTR,CFTR-AS1c.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
7g.117559566C>TCA368984606CFTR,CFTR-AS1c.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
7g.117559567C>ACA368984607CFTR,CFTR-AS1c.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
7g.117559567C=CA1737384526CFTR,CFTR-AS1c.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=
7g.117559567C>GCA368984611CFTR,CFTR-AS1c.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
7g.117559567C>TCA368984613CFTR,CFTR-AS1c.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
7g.117559568T>ACA457228827CFTR,CFTR-AS1c.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
7g.117559568T>CCA457228829CFTR,CFTR-AS1c.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
7g.117559568T>GCA457228830CFTR,CFTR-AS1c.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
7g.117559568T=CA1737384531CFTR,CFTR-AS1c.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=
7g.117559569G>ACA368984616CFTR,CFTR-AS1c.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
7g.117559569G>CCA368984619CFTR,CFTR-AS1c.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
7g.117559569G=CA1737384535CFTR,CFTR-AS1c.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=
7g.117559569G>TCA368984625CFTR,CFTR-AS1c.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
7g.117559570G>ACA4451011CFTR,CFTR-AS1c.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
7g.117559570G>CCA368984628CFTR,CFTR-AS1c.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

Number of alleles fetched