Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.117587736_117587831delinsTAGGACATCTCCAAGTTTGCAGAGAAAGACAATATAGTTCTTGGAGAAGGTGGAATCACACTGAGTGGAGGTCAACGAGCAAGAATTTCTTTAGCACA1737390013CFTRc.1585-3_1677delinsTAGGACATCTCCAAGTTTGCAGAGAAAGACAATATAGTTCTTGGAGAAGGTGGAATCACACTGAGTGGAGGTCAACGAGCAAGAATTTCTTTAGCA
c.*1299-3_*1391delinsTAGGACATCTCCAAGTTTGCAGAGAAAGACAATATAGTTCTTGGAGAAGGTGGAATCACACTGAGTGGAGGTCAACGAGCAAGAATTTCTTTAGCA
c.1402-3_1494delinsTAGGACATCTCCAAGTTTGCAGAGAAAGACAATATAGTTCTTGGAGAAGGTGGAATCACACTGAGTGGAGGTCAACGAGCAAGAATTTCTTTAGCA
c.*1409-3_*1501delinsTAGGACATCTCCAAGTTTGCAGAGAAAGACAATATAGTTCTTGGAGAAGGTGGAATCACACTGAGTGGAGGTCAACGAGCAAGAATTTCTTTAGCA
c.1159-3_1251delinsTAGGACATCTCCAAGTTTGCAGAGAAAGACAATATAGTTCTTGGAGAAGGTGGAATCACACTGAGTGGAGGTCAACGAGCAAGAATTTCTTTAGCA
c.1402-15090_1402-14995delinsTAGGACATCTCCAAGTTTGCAGAGAAAGACAATATAGTTCTTGGAGAAGGTGGAATCACACTGAGTGGAGGTCAACGAGCAAGAATTTCTTTAGCA (n.1402-15090_1402-14995delinsTAGGACATCTCCAAGTTTGCAGAGAAAGACAATATAGTTCTTGGAGAAGGTGGAATCACACTGAGTGGAGGTCAACGAGCAAGAATTTCTTTAGCA)
c.1495-3_1587delinsTAGGACATCTCCAAGTTTGCAGAGAAAGACAATATAGTTCTTGGAGAAGGTGGAATCACACTGAGTGGAGGTCAACGAGCAAGAATTTCTTTAGCA
c.1675-3_1767delinsTAGGACATCTCCAAGTTTGCAGAGAAAGACAATATAGTTCTTGGAGAAGGTGGAATCACACTGAGTGGAGGTCAACGAGCAAGAATTTCTTTAGCA
c.1342-3_1434delinsTAGGACATCTCCAAGTTTGCAGAGAAAGACAATATAGTTCTTGGAGAAGGTGGAATCACACTGAGTGGAGGTCAACGAGCAAGAATTTCTTTAGCA
7g.117587740_117587834delCA913190192CFTRc.1586_1679+1del
c.*1300_*1393+1del
c.1403_1496+1del
c.*1410_*1503+1del
c.1160_1253+1del
c.1402-15086_1402-14992del (n.1402-15086_1402-14992del)
c.1496_1589+1del
c.1676_1769+1del
c.1343_1436+1del
 ClinVar dbSNP
7g.117587823_117587824delinsTCCA1737390587CFTRc.1669_1670delinsTC (p.Ser557=)
c.*1383_*1384delinsTC (n.*1383_*1384delinsTC)
c.1486_1487delinsTC (p.Ser496=)
c.*1493_*1494delinsTC (n.*1493_*1494delinsTC)
c.1243_1244delinsTC (p.Ser415=)
c.1402-15003_1402-15002delinsTC (n.1402-15003_1402-15002delinsTC)
c.1579_1580delinsTC (p.Ser527=)
c.1759_1760delinsTC (p.Ser587=)
c.1426_1427delinsTC (p.Ser476=)
7g.117587824delCA326590CFTRc.1670del (p.Ser557PhefsTer2)
c.*1384del (n.*1384del)
c.1487del (p.Ser496PhefsTer2)
c.*1494del (n.*1494del)
c.1244del (p.Ser415PhefsTer2)
c.1402-15002del (n.1402-15002del)
c.1580del (p.Ser527PhefsTer2)
c.1760del (p.Ser587PhefsTer2)
c.1427del (p.Ser476PhefsTer2)
 ClinVar dbSNP
7g.117587824C>ACA368976190CFTRc.1670C>A (p.Ser557Tyr)
c.*1384C>A (n.*1384C>A)
c.1487C>A (p.Ser496Tyr)
c.*1494C>A (n.*1494C>A)
c.1244C>A (p.Ser415Tyr)
c.1402-15002C>A (n.1402-15002C>A)
c.1580C>A (p.Ser527Tyr)
c.1760C>A (p.Ser587Tyr)
c.1427C>A (p.Ser476Tyr)
 dbSNP gnomAD v4 COSMIC
7g.117587824C=CA1737390595CFTRc.1670C= (p.Ser557=)
c.*1384C= (n.*1384C=)
c.1487C= (p.Ser496=)
c.*1494C= (n.*1494C=)
c.1244C= (p.Ser415=)
c.1402-15002C= (n.1402-15002C=)
c.1580C= (p.Ser527=)
c.1760C= (p.Ser587=)
c.1427C= (p.Ser476=)
7g.117587824C>GCA368976185CFTRc.1670C>G (p.Ser557Cys)
c.*1384C>G (n.*1384C>G)
c.1487C>G (p.Ser496Cys)
c.*1494C>G (n.*1494C>G)
c.1244C>G (p.Ser415Cys)
c.1402-15002C>G (n.1402-15002C>G)
c.1580C>G (p.Ser527Cys)
c.1760C>G (p.Ser587Cys)
c.1427C>G (p.Ser476Cys)
7g.117587824C>TCA368976187CFTRc.1670C>T (p.Ser557Phe)
c.*1384C>T (n.*1384C>T)
c.1487C>T (p.Ser496Phe)
c.*1494C>T (n.*1494C>T)
c.1244C>T (p.Ser415Phe)
c.1402-15002C>T (n.1402-15002C>T)
c.1580C>T (p.Ser527Phe)
c.1760C>T (p.Ser587Phe)
c.1427C>T (p.Ser476Phe)
7g.117587825T>ACA457227308CFTRc.1671T>A (p.Ser557=)
c.*1385T>A (n.*1385T>A)
c.1488T>A (p.Ser496=)
c.*1495T>A (n.*1495T>A)
c.1245T>A (p.Ser415=)
c.1402-15001T>A (n.1402-15001T>A)
c.1581T>A (p.Ser527=)
c.1761T>A (p.Ser587=)
c.1428T>A (p.Ser476=)
7g.117587825T>CCA457227309CFTRc.1671T>C (p.Ser557=)
c.*1385T>C (n.*1385T>C)
c.1488T>C (p.Ser496=)
c.*1495T>C (n.*1495T>C)
c.1245T>C (p.Ser415=)
c.1402-15001T>C (n.1402-15001T>C)
c.1581T>C (p.Ser527=)
c.1761T>C (p.Ser587=)
c.1428T>C (p.Ser476=)
7g.117587825T>GCA457227307CFTRc.1671T>G (p.Ser557=)
c.*1385T>G (n.*1385T>G)
c.1488T>G (p.Ser496=)
c.*1495T>G (n.*1495T>G)
c.1245T>G (p.Ser415=)
c.1402-15001T>G (n.1402-15001T>G)
c.1581T>G (p.Ser527=)
c.1761T>G (p.Ser587=)
c.1428T>G (p.Ser476=)
7g.117587827delCA2684620198CFTRc.1673del (p.Leu558Ter)
c.*1387del (n.*1387del)
c.1490del (p.Leu497Ter)
c.*1497del (n.*1497del)
c.1247del (p.Leu416Ter)
c.1402-14999del (n.1402-14999del)
c.1583del (p.Leu528Ter)
c.1763del (p.Leu588Ter)
c.1430del (p.Leu477Ter)
 gnomAD v4
7g.117587826_117587827delCA2580076324CFTRc.1672_1673del (p.Leu558SerfsTer9)
c.*1386_*1387del (n.*1386_*1387del)
c.1489_1490del (p.Leu497SerfsTer9)
c.1672_1673del (p.Leu558SerfsTer12)
c.*1496_*1497del (n.*1496_*1497del)
c.1246_1247del (p.Leu416SerfsTer9)
c.1402-15000_1402-14999del (n.1402-15000_1402-14999del)
c.1582_1583del (p.Leu528SerfsTer9)
c.1762_1763del (p.Leu588SerfsTer9)
c.1429_1430del (p.Leu477SerfsTer9)
 ClinVar
7g.117587826T>ACA368976193CFTRc.1672T>A (p.Leu558Ile)
c.*1386T>A (n.*1386T>A)
c.1489T>A (p.Leu497Ile)
c.*1496T>A (n.*1496T>A)
c.1246T>A (p.Leu416Ile)
c.1402-15000T>A (n.1402-15000T>A)
c.1582T>A (p.Leu528Ile)
c.1762T>A (p.Leu588Ile)
c.1429T>A (p.Leu477Ile)
7g.117587826T>CCA457227310CFTRc.1672T>C (p.Leu558=)
c.*1386T>C (n.*1386T>C)
c.1489T>C (p.Leu497=)
c.*1496T>C (n.*1496T>C)
c.1246T>C (p.Leu416=)
c.1402-15000T>C (n.1402-15000T>C)
c.1582T>C (p.Leu528=)
c.1762T>C (p.Leu588=)
c.1429T>C (p.Leu477=)
 gnomAD v4
7g.117587826T>GCA368976195CFTRc.1672T>G (p.Leu558Val)
c.*1386T>G (n.*1386T>G)
c.1489T>G (p.Leu497Val)
c.*1496T>G (n.*1496T>G)
c.1246T>G (p.Leu416Val)
c.1402-15000T>G (n.1402-15000T>G)
c.1582T>G (p.Leu528Val)
c.1762T>G (p.Leu588Val)
c.1429T>G (p.Leu477Val)
 gnomAD v4
7g.117587827T>ACA368976197CFTRc.1673T>A (p.Leu558Ter)
c.*1387T>A (n.*1387T>A)
c.1490T>A (p.Leu497Ter)
c.*1497T>A (n.*1497T>A)
c.1247T>A (p.Leu416Ter)
c.1402-14999T>A (n.1402-14999T>A)
c.1583T>A (p.Leu528Ter)
c.1763T>A (p.Leu588Ter)
c.1430T>A (p.Leu477Ter)
 ClinVar
7g.117587827T>CCA325694CFTRc.1673T>C (p.Leu558Ser)
c.*1387T>C (n.*1387T>C)
c.1490T>C (p.Leu497Ser)
c.*1497T>C (n.*1497T>C)
c.1247T>C (p.Leu416Ser)
c.1402-14999T>C (n.1402-14999T>C)
c.1583T>C (p.Leu528Ser)
c.1763T>C (p.Leu588Ser)
c.1430T>C (p.Leu477Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117587827T>GCA368976199CFTRc.1673T>G (p.Leu558Ter)
c.*1387T>G (n.*1387T>G)
c.1490T>G (p.Leu497Ter)
c.*1497T>G (n.*1497T>G)
c.1247T>G (p.Leu416Ter)
c.1402-14999T>G (n.1402-14999T>G)
c.1583T>G (p.Leu528Ter)
c.1763T>G (p.Leu588Ter)
c.1430T>G (p.Leu477Ter)
7g.117587827T=CA1737390599CFTRc.1673T= (p.Leu558=)
c.*1387T= (n.*1387T=)
c.1490T= (p.Leu497=)
c.*1497T= (n.*1497T=)
c.1247T= (p.Leu416=)
c.1402-14999T= (n.1402-14999T=)
c.1583T= (p.Leu528=)
c.1763T= (p.Leu588=)
c.1430T= (p.Leu477=)
7g.117587827_117587828delinsTACA1737390602CFTRc.1673_1674delinsTA (p.Leu558=)
c.*1387_*1388delinsTA (n.*1387_*1388delinsTA)
c.1490_1491delinsTA (p.Leu497=)
c.*1497_*1498delinsTA (n.*1497_*1498delinsTA)
c.1247_1248delinsTA (p.Leu416=)
c.1402-14999_1402-14998delinsTA (n.1402-14999_1402-14998delinsTA)
c.1583_1584delinsTA (p.Leu528=)
c.1763_1764delinsTA (p.Leu588=)
c.1430_1431delinsTA (p.Leu477=)
7g.117587828delCA326591CFTRc.1674del (p.Ala559GlnfsTer13)
c.*1388del (n.*1388del)
c.1491del (p.Ala498GlnfsTer13)
c.1674del (p.Ala559GlnfsTer?)
c.*1498del (n.*1498del)
c.1248del (p.Ala417GlnfsTer13)
c.1402-14998del (n.1402-14998del)
c.1584del (p.Ala529GlnfsTer13)
c.1764del (p.Ala589GlnfsTer13)
c.1431del (p.Ala478GlnfsTer13)
 ClinVar dbSNP
7g.117587828A=CA1737390606CFTRc.1674A= (p.Leu558=)
c.*1388A= (n.*1388A=)
c.1491A= (p.Leu497=)
c.*1498A= (n.*1498A=)
c.1248A= (p.Leu416=)
c.1402-14998A= (n.1402-14998A=)
c.1584A= (p.Leu528=)
c.1764A= (p.Leu588=)
c.1431A= (p.Leu477=)
7g.117587828A>CCA368976203CFTRc.1674A>C (p.Leu558Phe)
c.*1388A>C (n.*1388A>C)
c.1491A>C (p.Leu497Phe)
c.*1498A>C (n.*1498A>C)
c.1248A>C (p.Leu416Phe)
c.1402-14998A>C (n.1402-14998A>C)
c.1584A>C (p.Leu528Phe)
c.1764A>C (p.Leu588Phe)
c.1431A>C (p.Leu477Phe)
7g.117587828A>GCA4451053CFTRc.1674A>G (p.Leu558=)
c.*1388A>G (n.*1388A>G)
c.1491A>G (p.Leu497=)
c.*1498A>G (n.*1498A>G)
c.1248A>G (p.Leu416=)
c.1402-14998A>G (n.1402-14998A>G)
c.1584A>G (p.Leu528=)
c.1764A>G (p.Leu588=)
c.1431A>G (p.Leu477=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117587828A>TCA368976205CFTRc.1674A>T (p.Leu558Phe)
c.*1388A>T (n.*1388A>T)
c.1491A>T (p.Leu497Phe)
c.*1498A>T (n.*1498A>T)
c.1248A>T (p.Leu416Phe)
c.1402-14998A>T (n.1402-14998A>T)
c.1584A>T (p.Leu528Phe)
c.1764A>T (p.Leu588Phe)
c.1431A>T (p.Leu477Phe)
7g.117587829G>ACA340637CFTRc.1675G>A (p.Ala559Thr)
c.*1389G>A (n.*1389G>A)
c.1492G>A (p.Ala498Thr)
c.*1499G>A (n.*1499G>A)
c.1249G>A (p.Ala417Thr)
c.1402-14997G>A (n.1402-14997G>A)
c.1585G>A (p.Ala529Thr)
c.1765G>A (p.Ala589Thr)
c.1432G>A (p.Ala478Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117587829G>CCA368976213CFTRc.1675G>C (p.Ala559Pro)
c.*1389G>C (n.*1389G>C)
c.1492G>C (p.Ala498Pro)
c.*1499G>C (n.*1499G>C)
c.1249G>C (p.Ala417Pro)
c.1402-14997G>C (n.1402-14997G>C)
c.1585G>C (p.Ala529Pro)
c.1765G>C (p.Ala589Pro)
c.1432G>C (p.Ala478Pro)
 ClinVar
7g.117587829G=CA1737390607CFTRc.1675G= (p.Ala559=)
c.*1389G= (n.*1389G=)
c.1492G= (p.Ala498=)
c.*1499G= (n.*1499G=)
c.1249G= (p.Ala417=)
c.1402-14997G= (n.1402-14997G=)
c.1585G= (p.Ala529=)
c.1765G= (p.Ala589=)
c.1432G= (p.Ala478=)
7g.117587829G>TCA368976209CFTRc.1675G>T (p.Ala559Ser)
c.*1389G>T (n.*1389G>T)
c.1492G>T (p.Ala498Ser)
c.*1499G>T (n.*1499G>T)
c.1249G>T (p.Ala417Ser)
c.1402-14997G>T (n.1402-14997G>T)
c.1585G>T (p.Ala529Ser)
c.1765G>T (p.Ala589Ser)
c.1432G>T (p.Ala478Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117587830C>ACA326592CFTRc.1676C>A (p.Ala559Glu)
c.*1390C>A (n.*1390C>A)
c.1493C>A (p.Ala498Glu)
c.*1500C>A (n.*1500C>A)
c.1250C>A (p.Ala417Glu)
c.1402-14996C>A (n.1402-14996C>A)
c.1586C>A (p.Ala529Glu)
c.1766C>A (p.Ala589Glu)
c.1433C>A (p.Ala478Glu)
 dbSNP gnomAD v4
7g.117587830C=CA1737390608CFTRc.1676C= (p.Ala559=)
c.*1390C= (n.*1390C=)
c.1493C= (p.Ala498=)
c.*1500C= (n.*1500C=)
c.1250C= (p.Ala417=)
c.1402-14996C= (n.1402-14996C=)
c.1586C= (p.Ala529=)
c.1766C= (p.Ala589=)
c.1433C= (p.Ala478=)
7g.117587830C>GCA368976216CFTRc.1676C>G (p.Ala559Gly)
c.*1390C>G (n.*1390C>G)
c.1493C>G (p.Ala498Gly)
c.*1500C>G (n.*1500C>G)
c.1250C>G (p.Ala417Gly)
c.1402-14996C>G (n.1402-14996C>G)
c.1586C>G (p.Ala529Gly)
c.1766C>G (p.Ala589Gly)
c.1433C>G (p.Ala478Gly)
7g.117587830C>TCA326594CFTRc.1676C>T (p.Ala559Val)
c.*1390C>T (n.*1390C>T)
c.1493C>T (p.Ala498Val)
c.*1500C>T (n.*1500C>T)
c.1250C>T (p.Ala417Val)
c.1402-14996C>T (n.1402-14996C>T)
c.1586C>T (p.Ala529Val)
c.1766C>T (p.Ala589Val)
c.1433C>T (p.Ala478Val)
 dbSNP
7g.117587831A>CCA457227311CFTRc.1677A>C (p.Ala559=)
c.*1391A>C (n.*1391A>C)
c.1494A>C (p.Ala498=)
c.*1501A>C (n.*1501A>C)
c.1251A>C (p.Ala417=)
c.1402-14995A>C (n.1402-14995A>C)
c.1587A>C (p.Ala529=)
c.1767A>C (p.Ala589=)
c.1434A>C (p.Ala478=)
7g.117587831A>GCA457227313CFTRc.1677A>G (p.Ala559=)
c.*1391A>G (n.*1391A>G)
c.1494A>G (p.Ala498=)
c.*1501A>G (n.*1501A>G)
c.1251A>G (p.Ala417=)
c.1402-14995A>G (n.1402-14995A>G)
c.1587A>G (p.Ala529=)
c.1767A>G (p.Ala589=)
c.1434A>G (p.Ala478=)
 gnomAD v4
7g.117587831A>TCA457227312CFTRc.1677A>T (p.Ala559=)
c.*1391A>T (n.*1391A>T)
c.1494A>T (p.Ala498=)
c.*1501A>T (n.*1501A>T)
c.1251A>T (p.Ala417=)
c.1402-14995A>T (n.1402-14995A>T)
c.1587A>T (p.Ala529=)
c.1767A>T (p.Ala589=)
c.1434A>T (p.Ala478=)
7g.117587832A=CA1737390609CFTRc.1678A= (p.Arg560=)
c.*1392A= (n.*1392A=)
c.1495A= (p.Arg499=)
c.1678A= (p.Ser560=)
c.*1502A= (n.*1502A=)
c.1252A= (p.Arg418=)
c.1402-14994A= (n.1402-14994A=)
c.1588A= (p.Arg530=)
c.1768A= (p.Arg590=)
c.1435A= (p.Arg479=)
7g.117587832A>CCA457227314CFTRc.1678A>C (p.Arg560=)
c.*1392A>C (n.*1392A>C)
c.1495A>C (p.Arg499=)
c.1678A>C (p.Ser560Arg)
c.*1502A>C (n.*1502A>C)
c.1252A>C (p.Arg418=)
c.1402-14994A>C (n.1402-14994A>C)
c.1588A>C (p.Arg530=)
c.1768A>C (p.Arg590=)
c.1435A>C (p.Arg479=)
 gnomAD v4
7g.117587832A>GCA326596CFTRc.1678A>G (p.Arg560Gly)
c.*1392A>G (n.*1392A>G)
c.1495A>G (p.Arg499Gly)
c.1678A>G (p.Ser560Gly)
c.*1502A>G (n.*1502A>G)
c.1252A>G (p.Arg418Gly)
c.1402-14994A>G (n.1402-14994A>G)
c.1588A>G (p.Arg530Gly)
c.1768A>G (p.Arg590Gly)
c.1435A>G (p.Arg479Gly)
 ClinVar dbSNP gnomAD v4
7g.117587832A>TCA368976222CFTRc.1678A>T (p.Arg560Ter)
c.*1392A>T (n.*1392A>T)
c.1495A>T (p.Arg499Ter)
c.1678A>T (p.Ser560Cys)
c.*1502A>T (n.*1502A>T)
c.1252A>T (p.Arg418Ter)
c.1402-14994A>T (n.1402-14994A>T)
c.1588A>T (p.Arg530Ter)
c.1768A>T (p.Arg590Ter)
c.1435A>T (p.Arg479Ter)
7g.117587833G>ACA325552CFTRc.1679G>A (p.Arg560Lys)
c.*1393G>A (n.*1393G>A)
c.1496G>A (p.Arg499Lys)
c.1679G>A (p.Ser560Asn)
c.*1503G>A (n.*1503G>A)
c.1253G>A (p.Arg418Lys)
c.1402-14993G>A (n.1402-14993G>A)
c.1589G>A (p.Arg530Lys)
c.1769G>A (p.Arg590Lys)
c.1436G>A (p.Arg479Lys)
 ClinVar dbSNP gnomAD v4
7g.117587833G>CCA340633CFTRc.1679G>C (p.Arg560Thr)
c.*1393G>C (n.*1393G>C)
c.1496G>C (p.Arg499Thr)
c.1679G>C (p.Ser560Thr)
c.*1503G>C (n.*1503G>C)
c.1253G>C (p.Arg418Thr)
c.1402-14993G>C (n.1402-14993G>C)
c.1589G>C (p.Arg530Thr)
c.1769G>C (p.Arg590Thr)
c.1436G>C (p.Arg479Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117587833G=CA1737390610CFTRc.1679G= (p.Arg560=)
c.*1393G= (n.*1393G=)
c.1496G= (p.Arg499=)
c.1679G= (p.Ser560=)
c.*1503G= (n.*1503G=)
c.1253G= (p.Arg418=)
c.1402-14993G= (n.1402-14993G=)
c.1589G= (p.Arg530=)
c.1769G= (p.Arg590=)
c.1436G= (p.Arg479=)
7g.117587833G>TCA368976226CFTRc.1679G>T (p.Arg560Ile)
c.*1393G>T (n.*1393G>T)
c.1496G>T (p.Arg499Ile)
c.1679G>T (p.Ser560Ile)
c.*1503G>T (n.*1503G>T)
c.1253G>T (p.Arg418Ile)
c.1402-14993G>T (n.1402-14993G>T)
c.1589G>T (p.Arg530Ile)
c.1769G>T (p.Arg590Ile)
c.1436G>T (p.Arg479Ile)
7g.117587834G>ACA10605596CFTRc.1679+1G>A (n.1679+1G>A)
c.*1393+1G>A (n.*1393+1G>A)
c.1496+1G>A (n.1496+1G>A)
c.*1503+1G>A (n.*1503+1G>A)
c.1253+1G>A (n.1253+1G>A)
c.1402-14992G>A (n.1402-14992G>A)
c.1589+1G>A (n.1589+1G>A)
c.1769+1G>A (n.1769+1G>A)
c.1436+1G>A (n.1436+1G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117587834G>CCA326601CFTRc.1679+1G>C (n.1679+1G>C)
c.*1393+1G>C (n.*1393+1G>C)
c.1496+1G>C (n.1496+1G>C)
c.*1503+1G>C (n.*1503+1G>C)
c.1253+1G>C (n.1253+1G>C)
c.1402-14992G>C (n.1402-14992G>C)
c.1589+1G>C (n.1589+1G>C)
c.1769+1G>C (n.1769+1G>C)
c.1436+1G>C (n.1436+1G>C)
 ClinVar dbSNP gnomAD v4
7g.117587834G=CA1737390611CFTRc.1679+1G= (n.1679+1G=)
c.*1393+1G= (n.*1393+1G=)
c.1496+1G= (n.1496+1G=)
c.*1503+1G= (n.*1503+1G=)
c.1253+1G= (n.1253+1G=)
c.1402-14992G= (n.1402-14992G=)
c.1589+1G= (n.1589+1G=)
c.1769+1G= (n.1769+1G=)
c.1436+1G= (n.1436+1G=)
7g.117587834G>TCA368976233CFTRc.1679+1G>T (n.1679+1G>T)
c.*1393+1G>T (n.*1393+1G>T)
c.1496+1G>T (n.1496+1G>T)
c.*1503+1G>T (n.*1503+1G>T)
c.1253+1G>T (n.1253+1G>T)
c.1402-14992G>T (n.1402-14992G>T)
c.1589+1G>T (n.1589+1G>T)
c.1769+1G>T (n.1769+1G>T)
c.1436+1G>T (n.1436+1G>T)
7g.117587835T>ACA368976236CFTRc.1679+2T>A (n.1679+2T>A)
c.*1393+2T>A (n.*1393+2T>A)
c.1496+2T>A (n.1496+2T>A)
c.*1503+2T>A (n.*1503+2T>A)
c.1253+2T>A (n.1253+2T>A)
c.1402-14991T>A (n.1402-14991T>A)
c.1589+2T>A (n.1589+2T>A)
c.1769+2T>A (n.1769+2T>A)
c.1436+2T>A (n.1436+2T>A)

Number of alleles fetched