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.117592051G>ACA457448865CFTRc.1884G>A (p.Gly628=)
c.*1598G>A (n.*1598G>A)
c.1701G>A (p.Gly567=)
c.*184G>A (n.*184G>A)
c.*1708G>A (n.*1708G>A)
c.1458G>A (p.Gly486=)
c.1402-10775G>A (n.1402-10775G>A)
c.1794G>A (p.Gly598=)
c.1974G>A (p.Gly658=)
c.1641G>A (p.Gly547=)
COSMIC
7g.117592051G>CCA457448866CFTRc.1884G>C (p.Gly628=)
c.*1598G>C (n.*1598G>C)
c.1701G>C (p.Gly567=)
c.*184G>C (n.*184G>C)
c.*1708G>C (n.*1708G>C)
c.1458G>C (p.Gly486=)
c.1402-10775G>C (n.1402-10775G>C)
c.1794G>C (p.Gly598=)
c.1974G>C (p.Gly658=)
c.1641G>C (p.Gly547=)
7g.117592051G=CA1737394087CFTRc.1884G= (p.Gly628=)
c.*1598G= (n.*1598G=)
c.1701G= (p.Gly567=)
c.*184G= (n.*184G=)
c.*1708G= (n.*1708G=)
c.1458G= (p.Gly486=)
c.1402-10775G= (n.1402-10775G=)
c.1794G= (p.Gly598=)
c.1974G= (p.Gly658=)
c.1641G= (p.Gly547=)
7g.117592051G>TCA457448867CFTRc.1884G>T (p.Gly628=)
c.*1598G>T (n.*1598G>T)
c.1701G>T (p.Gly567=)
c.*184G>T (n.*184G>T)
c.*1708G>T (n.*1708G>T)
c.1458G>T (p.Gly486=)
c.1402-10775G>T (n.1402-10775G>T)
c.1794G>T (p.Gly598=)
c.1974G>T (p.Gly658=)
c.1641G>T (p.Gly547=)
dbSNP gnomAD v2
7g.117592052A=CA1737394089CFTRc.1885A= (p.Thr629=)
c.*1599A= (n.*1599A=)
c.1702A= (p.Thr568=)
c.*185A= (n.*185A=)
c.*1709A= (n.*1709A=)
c.1459A= (p.Thr487=)
c.1402-10774A= (n.1402-10774A=)
c.1795A= (p.Thr599=)
c.1975A= (p.Thr659=)
c.1642A= (p.Thr548=)
7g.117592052A>CCA368978617CFTRc.1885A>C (p.Thr629Pro)
c.*1599A>C (n.*1599A>C)
c.1702A>C (p.Thr568Pro)
c.*185A>C (n.*185A>C)
c.*1709A>C (n.*1709A>C)
c.1459A>C (p.Thr487Pro)
c.1402-10774A>C (n.1402-10774A>C)
c.1795A>C (p.Thr599Pro)
c.1975A>C (p.Thr659Pro)
c.1642A>C (p.Thr548Pro)
7g.117592052A>GCA368978619CFTRc.1885A>G (p.Thr629Ala)
c.*1599A>G (n.*1599A>G)
c.1702A>G (p.Thr568Ala)
c.*185A>G (n.*185A>G)
c.*1709A>G (n.*1709A>G)
c.1459A>G (p.Thr487Ala)
c.1402-10774A>G (n.1402-10774A>G)
c.1795A>G (p.Thr599Ala)
c.1975A>G (p.Thr659Ala)
c.1642A>G (p.Thr548Ala)
dbSNP gnomAD v2 gnomAD v4
7g.117592052A>TCA368978621CFTRc.1885A>T (p.Thr629Ser)
c.*1599A>T (n.*1599A>T)
c.1702A>T (p.Thr568Ser)
c.*185A>T (n.*185A>T)
c.*1709A>T (n.*1709A>T)
c.1459A>T (p.Thr487Ser)
c.1402-10774A>T (n.1402-10774A>T)
c.1795A>T (p.Thr599Ser)
c.1975A>T (p.Thr659Ser)
c.1642A>T (p.Thr548Ser)
7g.117592053C>ACA368978622CFTRc.1886C>A (p.Thr629Lys)
c.*1600C>A (n.*1600C>A)
c.1703C>A (p.Thr568Lys)
c.*186C>A (n.*186C>A)
c.*1710C>A (n.*1710C>A)
c.1460C>A (p.Thr487Lys)
c.1402-10773C>A (n.1402-10773C>A)
c.1796C>A (p.Thr599Lys)
c.1976C>A (p.Thr659Lys)
c.1643C>A (p.Thr548Lys)
7g.117592053C=CA1737394095CFTRc.1886C= (p.Thr629=)
c.*1600C= (n.*1600C=)
c.1703C= (p.Thr568=)
c.*186C= (n.*186C=)
c.*1710C= (n.*1710C=)
c.1460C= (p.Thr487=)
c.1402-10773C= (n.1402-10773C=)
c.1796C= (p.Thr599=)
c.1976C= (p.Thr659=)
c.1643C= (p.Thr548=)
7g.117592053C>GCA368978624CFTRc.1886C>G (p.Thr629Arg)
c.*1600C>G (n.*1600C>G)
c.1703C>G (p.Thr568Arg)
c.*186C>G (n.*186C>G)
c.*1710C>G (n.*1710C>G)
c.1460C>G (p.Thr487Arg)
c.1402-10773C>G (n.1402-10773C>G)
c.1796C>G (p.Thr599Arg)
c.1976C>G (p.Thr659Arg)
c.1643C>G (p.Thr548Arg)
7g.117592053C>TCA368978631CFTRc.1886C>T (p.Thr629Ile)
c.*1600C>T (n.*1600C>T)
c.1703C>T (p.Thr568Ile)
c.*186C>T (n.*186C>T)
c.*1710C>T (n.*1710C>T)
c.1460C>T (p.Thr487Ile)
c.1402-10773C>T (n.1402-10773C>T)
c.1796C>T (p.Thr599Ile)
c.1976C>T (p.Thr659Ile)
c.1643C>T (p.Thr548Ile)
dbSNP
7g.117592054A=CA1737394098CFTRc.1887A= (p.Thr629=)
c.*1601A= (n.*1601A=)
c.1704A= (p.Thr568=)
c.*187A= (n.*187A=)
c.*1711A= (n.*1711A=)
c.1461A= (p.Thr487=)
c.1402-10772A= (n.1402-10772A=)
c.1797A= (p.Thr599=)
c.1977A= (p.Thr659=)
c.1644A= (p.Thr548=)
7g.117592054A>CCA457448870CFTRc.1887A>C (p.Thr629=)
c.*1601A>C (n.*1601A>C)
c.1704A>C (p.Thr568=)
c.*187A>C (n.*187A>C)
c.*1711A>C (n.*1711A>C)
c.1461A>C (p.Thr487=)
c.1402-10772A>C (n.1402-10772A>C)
c.1797A>C (p.Thr599=)
c.1977A>C (p.Thr659=)
c.1644A>C (p.Thr548=)
7g.117592054A>GCA457448869CFTRc.1887A>G (p.Thr629=)
c.*1601A>G (n.*1601A>G)
c.1704A>G (p.Thr568=)
c.*187A>G (n.*187A>G)
c.*1711A>G (n.*1711A>G)
c.1461A>G (p.Thr487=)
c.1402-10772A>G (n.1402-10772A>G)
c.1797A>G (p.Thr599=)
c.1977A>G (p.Thr659=)
c.1644A>G (p.Thr548=)
7g.117592054A>TCA457448868CFTRc.1887A>T (p.Thr629=)
c.*1601A>T (n.*1601A>T)
c.1704A>T (p.Thr568=)
c.*187A>T (n.*187A>T)
c.*1711A>T (n.*1711A>T)
c.1461A>T (p.Thr487=)
c.1402-10772A>T (n.1402-10772A>T)
c.1797A>T (p.Thr599=)
c.1977A>T (p.Thr659=)
c.1644A>T (p.Thr548=)
7g.117592055T>ACA368978645CFTRc.1888T>A (p.Phe630Ile)
c.*1602T>A (n.*1602T>A)
c.1705T>A (p.Phe569Ile)
c.*188T>A (n.*188T>A)
c.*1712T>A (n.*1712T>A)
c.1462T>A (p.Phe488Ile)
c.1402-10771T>A (n.1402-10771T>A)
c.1798T>A (p.Phe600Ile)
c.1978T>A (p.Phe660Ile)
c.1645T>A (p.Phe549Ile)
7g.117592055T>CCA368978636CFTRc.1888T>C (p.Phe630Leu)
c.*1602T>C (n.*1602T>C)
c.1705T>C (p.Phe569Leu)
c.*188T>C (n.*188T>C)
c.*1712T>C (n.*1712T>C)
c.1462T>C (p.Phe488Leu)
c.1402-10771T>C (n.1402-10771T>C)
c.1798T>C (p.Phe600Leu)
c.1978T>C (p.Phe660Leu)
c.1645T>C (p.Phe549Leu)
ClinVar
7g.117592055T>GCA368978643CFTRc.1888T>G (p.Phe630Val)
c.*1602T>G (n.*1602T>G)
c.1705T>G (p.Phe569Val)
c.*188T>G (n.*188T>G)
c.*1712T>G (n.*1712T>G)
c.1462T>G (p.Phe488Val)
c.1402-10771T>G (n.1402-10771T>G)
c.1798T>G (p.Phe600Val)
c.1978T>G (p.Phe660Val)
c.1645T>G (p.Phe549Val)
7g.117592058dupCA4451110CFTRc.1891dup (p.Ser631PhefsTer11)
c.*1605dup (n.*1605dup)
c.1708dup (p.Ser570PhefsTer11)
c.*191dup (n.*191dup)
c.*1715dup (n.*1715dup)
c.1465dup (p.Ser489PhefsTer11)
c.1402-10768dup (n.1402-10768dup)
c.1801dup (p.Ser601PhefsTer11)
c.1981dup (p.Ser661PhefsTer11)
c.1648dup (p.Ser550PhefsTer11)
ClinVar dbSNP ExAC gnomAD v2
7g.117592056T>ACA368978647CFTRc.1889T>A (p.Phe630Tyr)
c.*1603T>A (n.*1603T>A)
c.1706T>A (p.Phe569Tyr)
c.*189T>A (n.*189T>A)
c.*1713T>A (n.*1713T>A)
c.1463T>A (p.Phe488Tyr)
c.1402-10770T>A (n.1402-10770T>A)
c.1799T>A (p.Phe600Tyr)
c.1979T>A (p.Phe660Tyr)
c.1646T>A (p.Phe549Tyr)
7g.117592056T>CCA368978648CFTRc.1889T>C (p.Phe630Ser)
c.*1603T>C (n.*1603T>C)
c.1706T>C (p.Phe569Ser)
c.*189T>C (n.*189T>C)
c.*1713T>C (n.*1713T>C)
c.1463T>C (p.Phe488Ser)
c.1402-10770T>C (n.1402-10770T>C)
c.1799T>C (p.Phe600Ser)
c.1979T>C (p.Phe660Ser)
c.1646T>C (p.Phe549Ser)
7g.117592056T>GCA368978651CFTRc.1889T>G (p.Phe630Cys)
c.*1603T>G (n.*1603T>G)
c.1706T>G (p.Phe569Cys)
c.*189T>G (n.*189T>G)
c.*1713T>G (n.*1713T>G)
c.1463T>G (p.Phe488Cys)
c.1402-10770T>G (n.1402-10770T>G)
c.1799T>G (p.Phe600Cys)
c.1979T>G (p.Phe660Cys)
c.1646T>G (p.Phe549Cys)
7g.117592057T>ACA368978654CFTRc.1890T>A (p.Phe630Leu)
c.*1604T>A (n.*1604T>A)
c.1707T>A (p.Phe569Leu)
c.*190T>A (n.*190T>A)
c.*1714T>A (n.*1714T>A)
c.1464T>A (p.Phe488Leu)
c.1402-10769T>A (n.1402-10769T>A)
c.1800T>A (p.Phe600Leu)
c.1980T>A (p.Phe660Leu)
c.1647T>A (p.Phe549Leu)
7g.117592057T>CCA457448871CFTRc.1890T>C (p.Phe630=)
c.*1604T>C (n.*1604T>C)
c.1707T>C (p.Phe569=)
c.*190T>C (n.*190T>C)
c.*1714T>C (n.*1714T>C)
c.1464T>C (p.Phe488=)
c.1402-10769T>C (n.1402-10769T>C)
c.1800T>C (p.Phe600=)
c.1980T>C (p.Phe660=)
c.1647T>C (p.Phe549=)
ClinVar
7g.117592057T>GCA368978657CFTRc.1890T>G (p.Phe630Leu)
c.*1604T>G (n.*1604T>G)
c.1707T>G (p.Phe569Leu)
c.*190T>G (n.*190T>G)
c.*1714T>G (n.*1714T>G)
c.1464T>G (p.Phe488Leu)
c.1402-10769T>G (n.1402-10769T>G)
c.1800T>G (p.Phe600Leu)
c.1980T>G (p.Phe660Leu)
c.1647T>G (p.Phe549Leu)
7g.117592058T>ACA368978661CFTRc.1891T>A (p.Ser631Thr)
c.*1605T>A (n.*1605T>A)
c.1708T>A (p.Ser570Thr)
c.*191T>A (n.*191T>A)
c.*1715T>A (n.*1715T>A)
c.1465T>A (p.Ser489Thr)
c.1402-10768T>A (n.1402-10768T>A)
c.1801T>A (p.Ser601Thr)
c.1981T>A (p.Ser661Thr)
c.1648T>A (p.Ser550Thr)
7g.117592058T>CCA368978666CFTRc.1891T>C (p.Ser631Pro)
c.*1605T>C (n.*1605T>C)
c.1708T>C (p.Ser570Pro)
c.*191T>C (n.*191T>C)
c.*1715T>C (n.*1715T>C)
c.1465T>C (p.Ser489Pro)
c.1402-10768T>C (n.1402-10768T>C)
c.1801T>C (p.Ser601Pro)
c.1981T>C (p.Ser661Pro)
c.1648T>C (p.Ser550Pro)
COSMIC
7g.117592058T>GCA368978664CFTRc.1891T>G (p.Ser631Ala)
c.*1605T>G (n.*1605T>G)
c.1708T>G (p.Ser570Ala)
c.*191T>G (n.*191T>G)
c.*1715T>G (n.*1715T>G)
c.1465T>G (p.Ser489Ala)
c.1402-10768T>G (n.1402-10768T>G)
c.1801T>G (p.Ser601Ala)
c.1981T>G (p.Ser661Ala)
c.1648T>G (p.Ser550Ala)
7g.117592059C>ACA368978670CFTRc.1892C>A (p.Ser631Ter)
c.*1606C>A (n.*1606C>A)
c.1709C>A (p.Ser570Ter)
c.*192C>A (n.*192C>A)
c.*1716C>A (n.*1716C>A)
c.1466C>A (p.Ser489Ter)
c.1402-10767C>A (n.1402-10767C>A)
c.1802C>A (p.Ser601Ter)
c.1982C>A (p.Ser661Ter)
c.1649C>A (p.Ser550Ter)
7g.117592059C>GCA368978674CFTRc.1892C>G (p.Ser631Ter)
c.*1606C>G (n.*1606C>G)
c.1709C>G (p.Ser570Ter)
c.*192C>G (n.*192C>G)
c.*1716C>G (n.*1716C>G)
c.1466C>G (p.Ser489Ter)
c.1402-10767C>G (n.1402-10767C>G)
c.1802C>G (p.Ser601Ter)
c.1982C>G (p.Ser661Ter)
c.1649C>G (p.Ser550Ter)
7g.117592059C>TCA368978677CFTRc.1892C>T (p.Ser631Leu)
c.*1606C>T (n.*1606C>T)
c.1709C>T (p.Ser570Leu)
c.*192C>T (n.*192C>T)
c.*1716C>T (n.*1716C>T)
c.1466C>T (p.Ser489Leu)
c.1402-10767C>T (n.1402-10767C>T)
c.1802C>T (p.Ser601Leu)
c.1982C>T (p.Ser661Leu)
c.1649C>T (p.Ser550Leu)
7g.117592060_117592064delCA2580076505CFTRc.1893_1897del (p.Glu632ProfsTer8)
c.*1607_*1611del (n.*1607_*1611del)
c.1710_1714del (p.Glu571ProfsTer8)
c.*193_*197del (n.*193_*197del)
c.*1717_*1721del (n.*1717_*1721del)
c.1467_1471del (p.Glu490ProfsTer8)
c.1402-10766_1402-10762del (n.1402-10766_1402-10762del)
c.1803_1807del (p.Glu602ProfsTer8)
c.1983_1987del (p.Glu662ProfsTer8)
c.1650_1654del (p.Glu551ProfsTer8)
ClinVar
7g.117592060A>CCA457448872CFTRc.1893A>C (p.Ser631=)
c.*1607A>C (n.*1607A>C)
c.1710A>C (p.Ser570=)
c.*193A>C (n.*193A>C)
c.*1717A>C (n.*1717A>C)
c.1467A>C (p.Ser489=)
c.1402-10766A>C (n.1402-10766A>C)
c.1803A>C (p.Ser601=)
c.1983A>C (p.Ser661=)
c.1650A>C (p.Ser550=)
7g.117592060A>GCA457448874CFTRc.1893A>G (p.Ser631=)
c.*1607A>G (n.*1607A>G)
c.1710A>G (p.Ser570=)
c.*193A>G (n.*193A>G)
c.*1717A>G (n.*1717A>G)
c.1467A>G (p.Ser489=)
c.1402-10766A>G (n.1402-10766A>G)
c.1803A>G (p.Ser601=)
c.1983A>G (p.Ser661=)
c.1650A>G (p.Ser550=)
7g.117592060A>TCA457448873CFTRc.1893A>T (p.Ser631=)
c.*1607A>T (n.*1607A>T)
c.1710A>T (p.Ser570=)
c.*193A>T (n.*193A>T)
c.*1717A>T (n.*1717A>T)
c.1467A>T (p.Ser489=)
c.1402-10766A>T (n.1402-10766A>T)
c.1803A>T (p.Ser601=)
c.1983A>T (p.Ser661=)
c.1650A>T (p.Ser550=)
7g.117592061G>ACA368978681CFTRc.1894G>A (p.Glu632Lys)
c.*1608G>A (n.*1608G>A)
c.1711G>A (p.Glu571Lys)
c.*194G>A (n.*194G>A)
c.*1718G>A (n.*1718G>A)
c.1468G>A (p.Glu490Lys)
c.1402-10765G>A (n.1402-10765G>A)
c.1804G>A (p.Glu602Lys)
c.1984G>A (p.Glu662Lys)
c.1651G>A (p.Glu551Lys)
gnomAD v4
7g.117592061G>CCA368978683CFTRc.1894G>C (p.Glu632Gln)
c.*1608G>C (n.*1608G>C)
c.1711G>C (p.Glu571Gln)
c.*194G>C (n.*194G>C)
c.*1718G>C (n.*1718G>C)
c.1468G>C (p.Glu490Gln)
c.1402-10765G>C (n.1402-10765G>C)
c.1804G>C (p.Glu602Gln)
c.1984G>C (p.Glu662Gln)
c.1651G>C (p.Glu551Gln)
7g.117592061G>TCA368978686CFTRc.1894G>T (p.Glu632Ter)
c.*1608G>T (n.*1608G>T)
c.1711G>T (p.Glu571Ter)
c.*194G>T (n.*194G>T)
c.*1718G>T (n.*1718G>T)
c.1468G>T (p.Glu490Ter)
c.1402-10765G>T (n.1402-10765G>T)
c.1804G>T (p.Glu602Ter)
c.1984G>T (p.Glu662Ter)
c.1651G>T (p.Glu551Ter)
7g.117592062A>CCA368978690CFTRc.1895A>C (p.Glu632Ala)
c.*1609A>C (n.*1609A>C)
c.1712A>C (p.Glu571Ala)
c.*195A>C (n.*195A>C)
c.*1719A>C (n.*1719A>C)
c.1469A>C (p.Glu490Ala)
c.1402-10764A>C (n.1402-10764A>C)
c.1805A>C (p.Glu602Ala)
c.1985A>C (p.Glu662Ala)
c.1652A>C (p.Glu551Ala)
7g.117592062A>GCA368978694CFTRc.1895A>G (p.Glu632Gly)
c.*1609A>G (n.*1609A>G)
c.1712A>G (p.Glu571Gly)
c.*195A>G (n.*195A>G)
c.*1719A>G (n.*1719A>G)
c.1469A>G (p.Glu490Gly)
c.1402-10764A>G (n.1402-10764A>G)
c.1805A>G (p.Glu602Gly)
c.1985A>G (p.Glu662Gly)
c.1652A>G (p.Glu551Gly)
7g.117592062A>TCA368978697CFTRc.1895A>T (p.Glu632Val)
c.*1609A>T (n.*1609A>T)
c.1712A>T (p.Glu571Val)
c.*195A>T (n.*195A>T)
c.*1719A>T (n.*1719A>T)
c.1469A>T (p.Glu490Val)
c.1402-10764A>T (n.1402-10764A>T)
c.1805A>T (p.Glu602Val)
c.1985A>T (p.Glu662Val)
c.1652A>T (p.Glu551Val)
7g.117592063A>CCA368978699CFTRc.1896A>C (p.Glu632Asp)
c.*1610A>C (n.*1610A>C)
c.1713A>C (p.Glu571Asp)
c.*196A>C (n.*196A>C)
c.*1720A>C (n.*1720A>C)
c.1470A>C (p.Glu490Asp)
c.1402-10763A>C (n.1402-10763A>C)
c.1806A>C (p.Glu602Asp)
c.1986A>C (p.Glu662Asp)
c.1653A>C (p.Glu551Asp)
7g.117592063A>GCA457448875CFTRc.1896A>G (p.Glu632=)
c.*1610A>G (n.*1610A>G)
c.1713A>G (p.Glu571=)
c.*196A>G (n.*196A>G)
c.*1720A>G (n.*1720A>G)
c.1470A>G (p.Glu490=)
c.1402-10763A>G (n.1402-10763A>G)
c.1806A>G (p.Glu602=)
c.1986A>G (p.Glu662=)
c.1653A>G (p.Glu551=)
7g.117592063A>TCA368978701CFTRc.1896A>T (p.Glu632Asp)
c.*1610A>T (n.*1610A>T)
c.1713A>T (p.Glu571Asp)
c.*196A>T (n.*196A>T)
c.*1720A>T (n.*1720A>T)
c.1470A>T (p.Glu490Asp)
c.1402-10763A>T (n.1402-10763A>T)
c.1806A>T (p.Glu602Asp)
c.1986A>T (p.Glu662Asp)
c.1653A>T (p.Glu551Asp)
7g.117592064C>ACA326708CFTRc.1897C>A (p.Leu633Ile)
c.*1611C>A (n.*1611C>A)
c.1714C>A (p.Leu572Ile)
c.*197C>A (n.*197C>A)
c.*1721C>A (n.*1721C>A)
c.1471C>A (p.Leu491Ile)
c.1402-10762C>A (n.1402-10762C>A)
c.1807C>A (p.Leu603Ile)
c.1987C>A (p.Leu663Ile)
c.1654C>A (p.Leu552Ile)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched