Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.117591251_117595608delinsCTACATTTGTACTACA2580076490CFTRc.1767-683_2619+550delinsCTACATTTGTACTA
c.*1481-683_*2333+550delinsCTACATTTGTACTA
c.1584-683_2436+550delinsCTACATTTGTACTA
c.*67-683_*919+550delinsCTACATTTGTACTA
c.*1591-683_*2443+550delinsCTACATTTGTACTA
c.1341-683_2193+550delinsCTACATTTGTACTA
c.1402-11575_1402-7218delinsCTACATTTGTACTA (n.1402-11575_1402-7218delinsCTACATTTGTACTA)
c.1677-683_2529+550delinsCTACATTTGTACTA
c.1857-683_2709+550delinsCTACATTTGTACTA
c.1524-683_2376+550delinsCTACATTTGTACTA
 ClinVar
7g.117591983_117592067delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCCCA1737393925CFTRc.1816_1900delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC (p.Lys606=)
c.*1530_*1614delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC (n.*1530_*1614delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC)
c.1633_1717delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC (p.Lys545=)
c.*116_*200delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC (n.*116_*200delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC)
c.*1640_*1724delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC (n.*1640_*1724delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC)
c.1390_1474delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC (p.Lys464=)
c.1402-10843_1402-10759delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC (n.1402-10843_1402-10759delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC)
c.1726_1810delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC (p.Lys576=)
c.1906_1990delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC (p.Lys636=)
c.1573_1657delinsAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCC (p.Lys525=)
7g.117591987_117592070dupCA918111646CFTRc.1820_1903dup (p.Gln634_Asn635insMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGln)
c.*1534_*1617dup (n.*1534_*1617dup)
c.1637_1720dup (p.Gln573_Asn574insMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGln)
c.*120_*203dup (n.*120_*203dup)
c.*1644_*1727dup (n.*1644_*1727dup)
c.1394_1477dup (p.Gln492_Asn493insMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGln)
c.1402-10839_1402-10756dup (n.1402-10839_1402-10756dup)
c.1730_1813dup (p.Gln604_Asn605insMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGln)
c.1910_1993dup (p.Gln664_Asn665insMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGln)
c.1577_1660dup (p.Gln553_Asn554insMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGln)
 dbSNP
7g.117591987_117592070delCA325542CFTRc.1820_1903del (p.Met607_Gln634del)
c.*1534_*1617del (n.*1534_*1617del)
c.1637_1720del (p.Met546_Gln573del)
c.*120_*203del (n.*120_*203del)
c.*1644_*1727del (n.*1644_*1727del)
c.1394_1477del (p.Met465_Gln492del)
c.1402-10839_1402-10756del (n.1402-10839_1402-10756del)
c.1730_1813del (p.Met577_Gln604del)
c.1910_1993del (p.Met637_Gln664del)
c.1577_1660del (p.Met526_Gln553del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117592016_117592018delCA2580076501CFTRc.1849_1851del (p.Leu617del)
c.*1563_*1565del (n.*1563_*1565del)
c.1666_1668del (p.Leu556del)
c.*149_*151del (n.*149_*151del)
c.*1673_*1675del (n.*1673_*1675del)
c.1423_1425del (p.Leu475del)
c.1402-10810_1402-10808del (n.1402-10810_1402-10808del)
c.1759_1761del (p.Leu587del)
c.1939_1941del (p.Leu647del)
c.1606_1608del (p.Leu536del)
 ClinVar
7g.117592016T>ACA368978404CFTRc.1849T>A (p.Leu617Ile)
c.*1563T>A (n.*1563T>A)
c.1666T>A (p.Leu556Ile)
c.*149T>A (n.*149T>A)
c.*1673T>A (n.*1673T>A)
c.1423T>A (p.Leu475Ile)
c.1402-10810T>A (n.1402-10810T>A)
c.1759T>A (p.Leu587Ile)
c.1939T>A (p.Leu647Ile)
c.1606T>A (p.Leu536Ile)
7g.117592016T>CCA457448849CFTRc.1849T>C (p.Leu617=)
c.*1563T>C (n.*1563T>C)
c.1666T>C (p.Leu556=)
c.*149T>C (n.*149T>C)
c.*1673T>C (n.*1673T>C)
c.1423T>C (p.Leu475=)
c.1402-10810T>C (n.1402-10810T>C)
c.1759T>C (p.Leu587=)
c.1939T>C (p.Leu647=)
c.1606T>C (p.Leu536=)
7g.117592016T>GCA368978407CFTRc.1849T>G (p.Leu617Val)
c.*1563T>G (n.*1563T>G)
c.1666T>G (p.Leu556Val)
c.*149T>G (n.*149T>G)
c.*1673T>G (n.*1673T>G)
c.1423T>G (p.Leu475Val)
c.1402-10810T>G (n.1402-10810T>G)
c.1759T>G (p.Leu587Val)
c.1939T>G (p.Leu647Val)
c.1606T>G (p.Leu536Val)
7g.117592017T>ACA368978411CFTRc.1850T>A (p.Leu617Ter)
c.*1564T>A (n.*1564T>A)
c.1667T>A (p.Leu556Ter)
c.*150T>A (n.*150T>A)
c.*1674T>A (n.*1674T>A)
c.1424T>A (p.Leu475Ter)
c.1402-10809T>A (n.1402-10809T>A)
c.1760T>A (p.Leu587Ter)
c.1940T>A (p.Leu647Ter)
c.1607T>A (p.Leu536Ter)
7g.117592017T>CCA368978413CFTRc.1850T>C (p.Leu617Ser)
c.*1564T>C (n.*1564T>C)
c.1667T>C (p.Leu556Ser)
c.*150T>C (n.*150T>C)
c.*1674T>C (n.*1674T>C)
c.1424T>C (p.Leu475Ser)
c.1402-10809T>C (n.1402-10809T>C)
c.1760T>C (p.Leu587Ser)
c.1940T>C (p.Leu647Ser)
c.1607T>C (p.Leu536Ser)
7g.117592017T>GCA368978414CFTRc.1850T>G (p.Leu617Ter)
c.*1564T>G (n.*1564T>G)
c.1667T>G (p.Leu556Ter)
c.*150T>G (n.*150T>G)
c.*1674T>G (n.*1674T>G)
c.1424T>G (p.Leu475Ter)
c.1402-10809T>G (n.1402-10809T>G)
c.1760T>G (p.Leu587Ter)
c.1940T>G (p.Leu647Ter)
c.1607T>G (p.Leu536Ter)
7g.117592018A=CA1737394009CFTRc.1851A= (p.Leu617=)
c.*1565A= (n.*1565A=)
c.1668A= (p.Leu556=)
c.*151A= (n.*151A=)
c.*1675A= (n.*1675A=)
c.1425A= (p.Leu475=)
c.1402-10808A= (n.1402-10808A=)
c.1761A= (p.Leu587=)
c.1941A= (p.Leu647=)
c.1608A= (p.Leu536=)
7g.117592018A>CCA368978418CFTRc.1851A>C (p.Leu617Phe)
c.*1565A>C (n.*1565A>C)
c.1668A>C (p.Leu556Phe)
c.*151A>C (n.*151A>C)
c.*1675A>C (n.*1675A>C)
c.1425A>C (p.Leu475Phe)
c.1402-10808A>C (n.1402-10808A>C)
c.1761A>C (p.Leu587Phe)
c.1941A>C (p.Leu647Phe)
c.1608A>C (p.Leu536Phe)
7g.117592018A>GCA457448850CFTRc.1851A>G (p.Leu617=)
c.*1565A>G (n.*1565A>G)
c.1668A>G (p.Leu556=)
c.*151A>G (n.*151A>G)
c.*1675A>G (n.*1675A>G)
c.1425A>G (p.Leu475=)
c.1402-10808A>G (n.1402-10808A>G)
c.1761A>G (p.Leu587=)
c.1941A>G (p.Leu647=)
c.1608A>G (p.Leu536=)
7g.117592018A>TCA4451105CFTRc.1851A>T (p.Leu617Phe)
c.*1565A>T (n.*1565A>T)
c.1668A>T (p.Leu556Phe)
c.*151A>T (n.*151A>T)
c.*1675A>T (n.*1675A>T)
c.1425A>T (p.Leu475Phe)
c.1402-10808A>T (n.1402-10808A>T)
c.1761A>T (p.Leu587Phe)
c.1941A>T (p.Leu647Phe)
c.1608A>T (p.Leu536Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592020_117592030delCA2695208503CFTRc.1853_1863del (p.Ile618ArgfsTer2)
c.*1567_*1577del (n.*1567_*1577del)
c.1670_1680del (p.Ile557ArgfsTer2)
c.*153_*163del (n.*153_*163del)
c.*1677_*1687del (n.*1677_*1687del)
c.1427_1437del (p.Ile476ArgfsTer2)
c.1402-10806_1402-10796del (n.1402-10806_1402-10796del)
c.1763_1773del (p.Ile588ArgfsTer2)
c.1943_1953del (p.Ile648ArgfsTer2)
c.1610_1620del (p.Ile537ArgfsTer2)
7g.117592019A=CA1737394013CFTRc.1852A= (p.Ile618=)
c.*1566A= (n.*1566A=)
c.1669A= (p.Ile557=)
c.*152A= (n.*152A=)
c.*1676A= (n.*1676A=)
c.1426A= (p.Ile476=)
c.1402-10807A= (n.1402-10807A=)
c.1762A= (p.Ile588=)
c.1942A= (p.Ile648=)
c.1609A= (p.Ile537=)
7g.117592019A>CCA368978426CFTRc.1852A>C (p.Ile618Leu)
c.*1566A>C (n.*1566A>C)
c.1669A>C (p.Ile557Leu)
c.*152A>C (n.*152A>C)
c.*1676A>C (n.*1676A>C)
c.1426A>C (p.Ile476Leu)
c.1402-10807A>C (n.1402-10807A>C)
c.1762A>C (p.Ile588Leu)
c.1942A>C (p.Ile648Leu)
c.1609A>C (p.Ile537Leu)
7g.117592019A>GCA368978430CFTRc.1852A>G (p.Ile618Val)
c.*1566A>G (n.*1566A>G)
c.1669A>G (p.Ile557Val)
c.*152A>G (n.*152A>G)
c.*1676A>G (n.*1676A>G)
c.1426A>G (p.Ile476Val)
c.1402-10807A>G (n.1402-10807A>G)
c.1762A>G (p.Ile588Val)
c.1942A>G (p.Ile648Val)
c.1609A>G (p.Ile537Val)
 dbSNP
7g.117592019A>TCA368978428CFTRc.1852A>T (p.Ile618Phe)
c.*1566A>T (n.*1566A>T)
c.1669A>T (p.Ile557Phe)
c.*152A>T (n.*152A>T)
c.*1676A>T (n.*1676A>T)
c.1426A>T (p.Ile476Phe)
c.1402-10807A>T (n.1402-10807A>T)
c.1762A>T (p.Ile588Phe)
c.1942A>T (p.Ile648Phe)
c.1609A>T (p.Ile537Phe)
7g.117592020T>ACA368978433CFTRc.1853T>A (p.Ile618Asn)
c.*1567T>A (n.*1567T>A)
c.1670T>A (p.Ile557Asn)
c.*153T>A (n.*153T>A)
c.*1677T>A (n.*1677T>A)
c.1427T>A (p.Ile476Asn)
c.1402-10806T>A (n.1402-10806T>A)
c.1763T>A (p.Ile588Asn)
c.1943T>A (p.Ile648Asn)
c.1610T>A (p.Ile537Asn)
7g.117592020T>CCA221010CFTRc.1853T>C (p.Ile618Thr)
c.*1567T>C (n.*1567T>C)
c.1670T>C (p.Ile557Thr)
c.*153T>C (n.*153T>C)
c.*1677T>C (n.*1677T>C)
c.1427T>C (p.Ile476Thr)
c.1402-10806T>C (n.1402-10806T>C)
c.1763T>C (p.Ile588Thr)
c.1943T>C (p.Ile648Thr)
c.1610T>C (p.Ile537Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592020T>GCA368978438CFTRc.1853T>G (p.Ile618Ser)
c.*1567T>G (n.*1567T>G)
c.1670T>G (p.Ile557Ser)
c.*153T>G (n.*153T>G)
c.*1677T>G (n.*1677T>G)
c.1427T>G (p.Ile476Ser)
c.1402-10806T>G (n.1402-10806T>G)
c.1763T>G (p.Ile588Ser)
c.1943T>G (p.Ile648Ser)
c.1610T>G (p.Ile537Ser)
7g.117592020T=CA1737394020CFTRc.1853T= (p.Ile618=)
c.*1567T= (n.*1567T=)
c.1670T= (p.Ile557=)
c.*153T= (n.*153T=)
c.*1677T= (n.*1677T=)
c.1427T= (p.Ile476=)
c.1402-10806T= (n.1402-10806T=)
c.1763T= (p.Ile588=)
c.1943T= (p.Ile648=)
c.1610T= (p.Ile537=)
7g.117592021T>ACA457448851CFTRc.1854T>A (p.Ile618=)
c.*1568T>A (n.*1568T>A)
c.1671T>A (p.Ile557=)
c.*154T>A (n.*154T>A)
c.*1678T>A (n.*1678T>A)
c.1428T>A (p.Ile476=)
c.1402-10805T>A (n.1402-10805T>A)
c.1764T>A (p.Ile588=)
c.1944T>A (p.Ile648=)
c.1611T>A (p.Ile537=)
7g.117592021T>CCA457448852CFTRc.1854T>C (p.Ile618=)
c.*1568T>C (n.*1568T>C)
c.1671T>C (p.Ile557=)
c.*154T>C (n.*154T>C)
c.*1678T>C (n.*1678T>C)
c.1428T>C (p.Ile476=)
c.1402-10805T>C (n.1402-10805T>C)
c.1764T>C (p.Ile588=)
c.1944T>C (p.Ile648=)
c.1611T>C (p.Ile537=)
7g.117592021T>GCA368978442CFTRc.1854T>G (p.Ile618Met)
c.*1568T>G (n.*1568T>G)
c.1671T>G (p.Ile557Met)
c.*154T>G (n.*154T>G)
c.*1678T>G (n.*1678T>G)
c.1428T>G (p.Ile476Met)
c.1402-10805T>G (n.1402-10805T>G)
c.1764T>G (p.Ile588Met)
c.1944T>G (p.Ile648Met)
c.1611T>G (p.Ile537Met)
7g.117592022T>ACA368978445CFTRc.1855T>A (p.Leu619Met)
c.*1569T>A (n.*1569T>A)
c.1672T>A (p.Leu558Met)
c.*155T>A (n.*155T>A)
c.*1679T>A (n.*1679T>A)
c.1429T>A (p.Leu477Met)
c.1402-10804T>A (n.1402-10804T>A)
c.1765T>A (p.Leu589Met)
c.1945T>A (p.Leu649Met)
c.1612T>A (p.Leu538Met)
7g.117592022T>CCA457448853CFTRc.1855T>C (p.Leu619=)
c.*1569T>C (n.*1569T>C)
c.1672T>C (p.Leu558=)
c.*155T>C (n.*155T>C)
c.*1679T>C (n.*1679T>C)
c.1429T>C (p.Leu477=)
c.1402-10804T>C (n.1402-10804T>C)
c.1765T>C (p.Leu589=)
c.1945T>C (p.Leu649=)
c.1612T>C (p.Leu538=)
7g.117592022T>GCA368978448CFTRc.1855T>G (p.Leu619Val)
c.*1569T>G (n.*1569T>G)
c.1672T>G (p.Leu558Val)
c.*155T>G (n.*155T>G)
c.*1679T>G (n.*1679T>G)
c.1429T>G (p.Leu477Val)
c.1402-10804T>G (n.1402-10804T>G)
c.1765T>G (p.Leu589Val)
c.1945T>G (p.Leu649Val)
c.1612T>G (p.Leu538Val)
7g.117592023T>ACA368978452CFTRc.1856T>A (p.Leu619Ter)
c.*1570T>A (n.*1570T>A)
c.1673T>A (p.Leu558Ter)
c.*156T>A (n.*156T>A)
c.*1680T>A (n.*1680T>A)
c.1430T>A (p.Leu477Ter)
c.1402-10803T>A (n.1402-10803T>A)
c.1766T>A (p.Leu589Ter)
c.1946T>A (p.Leu649Ter)
c.1613T>A (p.Leu538Ter)
7g.117592023T>CCA326701CFTRc.1856T>C (p.Leu619Ser)
c.*1570T>C (n.*1570T>C)
c.1673T>C (p.Leu558Ser)
c.*156T>C (n.*156T>C)
c.*1680T>C (n.*1680T>C)
c.1430T>C (p.Leu477Ser)
c.1402-10803T>C (n.1402-10803T>C)
c.1766T>C (p.Leu589Ser)
c.1946T>C (p.Leu649Ser)
c.1613T>C (p.Leu538Ser)
 ClinVar dbSNP
7g.117592023T>GCA368978459CFTRc.1856T>G (p.Leu619Trp)
c.*1570T>G (n.*1570T>G)
c.1673T>G (p.Leu558Trp)
c.*156T>G (n.*156T>G)
c.*1680T>G (n.*1680T>G)
c.1430T>G (p.Leu477Trp)
c.1402-10803T>G (n.1402-10803T>G)
c.1766T>G (p.Leu589Trp)
c.1946T>G (p.Leu649Trp)
c.1613T>G (p.Leu538Trp)
7g.117592023T=CA1737394023CFTRc.1856T= (p.Leu619=)
c.*1570T= (n.*1570T=)
c.1673T= (p.Leu558=)
c.*156T= (n.*156T=)
c.*1680T= (n.*1680T=)
c.1430T= (p.Leu477=)
c.1402-10803T= (n.1402-10803T=)
c.1766T= (p.Leu589=)
c.1946T= (p.Leu649=)
c.1613T= (p.Leu538=)
7g.117592024G>ACA457448854CFTRc.1857G>A (p.Leu619=)
c.*1571G>A (n.*1571G>A)
c.1674G>A (p.Leu558=)
c.*157G>A (n.*157G>A)
c.*1681G>A (n.*1681G>A)
c.1431G>A (p.Leu477=)
c.1402-10802G>A (n.1402-10802G>A)
c.1767G>A (p.Leu589=)
c.1947G>A (p.Leu649=)
c.1614G>A (p.Leu538=)
7g.117592024G>CCA368978463CFTRc.1857G>C (p.Leu619Phe)
c.*1571G>C (n.*1571G>C)
c.1674G>C (p.Leu558Phe)
c.*157G>C (n.*157G>C)
c.*1681G>C (n.*1681G>C)
c.1431G>C (p.Leu477Phe)
c.1402-10802G>C (n.1402-10802G>C)
c.1767G>C (p.Leu589Phe)
c.1947G>C (p.Leu649Phe)
c.1614G>C (p.Leu538Phe)
7g.117592024G>TCA368978465CFTRc.1857G>T (p.Leu619Phe)
c.*1571G>T (n.*1571G>T)
c.1674G>T (p.Leu558Phe)
c.*157G>T (n.*157G>T)
c.*1681G>T (n.*1681G>T)
c.1431G>T (p.Leu477Phe)
c.1402-10802G>T (n.1402-10802G>T)
c.1767G>T (p.Leu589Phe)
c.1947G>T (p.Leu649Phe)
c.1614G>T (p.Leu538Phe)
 gnomAD v4
7g.117592025C>ACA368978472CFTRc.1858C>A (p.His620Asn)
c.*1572C>A (n.*1572C>A)
c.1675C>A (p.His559Asn)
c.*158C>A (n.*158C>A)
c.*1682C>A (n.*1682C>A)
c.1432C>A (p.His478Asn)
c.1402-10801C>A (n.1402-10801C>A)
c.1768C>A (p.His590Asn)
c.1948C>A (p.His650Asn)
c.1615C>A (p.His539Asn)
 gnomAD v4
7g.117592025C>GCA368978474CFTRc.1858C>G (p.His620Asp)
c.*1572C>G (n.*1572C>G)
c.1675C>G (p.His559Asp)
c.*158C>G (n.*158C>G)
c.*1682C>G (n.*1682C>G)
c.1432C>G (p.His478Asp)
c.1402-10801C>G (n.1402-10801C>G)
c.1768C>G (p.His590Asp)
c.1948C>G (p.His650Asp)
c.1615C>G (p.His539Asp)
7g.117592025C>TCA368978469CFTRc.1858C>T (p.His620Tyr)
c.*1572C>T (n.*1572C>T)
c.1675C>T (p.His559Tyr)
c.*158C>T (n.*158C>T)
c.*1682C>T (n.*1682C>T)
c.1432C>T (p.His478Tyr)
c.1402-10801C>T (n.1402-10801C>T)
c.1768C>T (p.His590Tyr)
c.1948C>T (p.His650Tyr)
c.1615C>T (p.His539Tyr)
 ClinVar gnomAD v4
7g.117592026A=CA1737394026CFTRc.1859A= (p.His620=)
c.*1573A= (n.*1573A=)
c.1676A= (p.His559=)
c.*159A= (n.*159A=)
c.*1683A= (n.*1683A=)
c.1433A= (p.His478=)
c.1402-10800A= (n.1402-10800A=)
c.1769A= (p.His590=)
c.1949A= (p.His650=)
c.1616A= (p.His539=)
7g.117592026A>CCA326702CFTRc.1859A>C (p.His620Pro)
c.*1573A>C (n.*1573A>C)
c.1676A>C (p.His559Pro)
c.*159A>C (n.*159A>C)
c.*1683A>C (n.*1683A>C)
c.1433A>C (p.His478Pro)
c.1402-10800A>C (n.1402-10800A>C)
c.1769A>C (p.His590Pro)
c.1949A>C (p.His650Pro)
c.1616A>C (p.His539Pro)
 ClinVar dbSNP gnomAD v4
7g.117592026A>GCA4451106CFTRc.1859A>G (p.His620Arg)
c.*1573A>G (n.*1573A>G)
c.1676A>G (p.His559Arg)
c.*159A>G (n.*159A>G)
c.*1683A>G (n.*1683A>G)
c.1433A>G (p.His478Arg)
c.1402-10800A>G (n.1402-10800A>G)
c.1769A>G (p.His590Arg)
c.1949A>G (p.His650Arg)
c.1616A>G (p.His539Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592026A>TCA4451107CFTRc.1859A>T (p.His620Leu)
c.*1573A>T (n.*1573A>T)
c.1676A>T (p.His559Leu)
c.*159A>T (n.*159A>T)
c.*1683A>T (n.*1683A>T)
c.1433A>T (p.His478Leu)
c.1402-10800A>T (n.1402-10800A>T)
c.1769A>T (p.His590Leu)
c.1949A>T (p.His650Leu)
c.1616A>T (p.His539Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592027T>ACA368978481CFTRc.1860T>A (p.His620Gln)
c.*1574T>A (n.*1574T>A)
c.1677T>A (p.His559Gln)
c.*160T>A (n.*160T>A)
c.*1684T>A (n.*1684T>A)
c.1434T>A (p.His478Gln)
c.1402-10799T>A (n.1402-10799T>A)
c.1770T>A (p.His590Gln)
c.1950T>A (p.His650Gln)
c.1617T>A (p.His539Gln)
7g.117592027T>CCA457448855CFTRc.1860T>C (p.His620=)
c.*1574T>C (n.*1574T>C)
c.1677T>C (p.His559=)
c.*160T>C (n.*160T>C)
c.*1684T>C (n.*1684T>C)
c.1434T>C (p.His478=)
c.1402-10799T>C (n.1402-10799T>C)
c.1770T>C (p.His590=)
c.1950T>C (p.His650=)
c.1617T>C (p.His539=)
 ClinVar dbSNP
7g.117592027T>GCA326703CFTRc.1860T>G (p.His620Gln)
c.*1574T>G (n.*1574T>G)
c.1677T>G (p.His559Gln)
c.*160T>G (n.*160T>G)
c.*1684T>G (n.*1684T>G)
c.1434T>G (p.His478Gln)
c.1402-10799T>G (n.1402-10799T>G)
c.1770T>G (p.His590Gln)
c.1950T>G (p.His650Gln)
c.1617T>G (p.His539Gln)
 ClinVar dbSNP
7g.117592027T=CA1737394035CFTRc.1860T= (p.His620=)
c.*1574T= (n.*1574T=)
c.1677T= (p.His559=)
c.*160T= (n.*160T=)
c.*1684T= (n.*1684T=)
c.1434T= (p.His478=)
c.1402-10799T= (n.1402-10799T=)
c.1770T= (p.His590=)
c.1950T= (p.His650=)
c.1617T= (p.His539=)
7g.117592027dupCA2695208504CFTRc.1860dup (p.Glu621Ter)
c.*1574dup (n.*1574dup)
c.1677dup (p.Glu560Ter)
c.*160dup (n.*160dup)
c.*1684dup (n.*1684dup)
c.1434dup (p.Glu479Ter)
c.1402-10799dup (n.1402-10799dup)
c.1770dup (p.Glu591Ter)
c.1950dup (p.Glu651Ter)
c.1617dup (p.Glu540Ter)
7g.117592028G>ACA368978489CFTRc.1861G>A (p.Glu621Lys)
c.*1575G>A (n.*1575G>A)
c.1678G>A (p.Glu560Lys)
c.*161G>A (n.*161G>A)
c.*1685G>A (n.*1685G>A)
c.1435G>A (p.Glu479Lys)
c.1402-10798G>A (n.1402-10798G>A)
c.1771G>A (p.Glu591Lys)
c.1951G>A (p.Glu651Lys)
c.1618G>A (p.Glu540Lys)
 COSMIC

Number of alleles fetched