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.117592044_117592046delCA2684619354CFTRc.1877_1879del (p.Phe626del)
c.*1591_*1593del (n.*1591_*1593del)
c.1694_1696del (p.Phe565del)
c.*177_*179del (n.*177_*179del)
c.*1701_*1703del (n.*1701_*1703del)
c.1451_1453del (p.Phe484del)
c.1402-10782_1402-10780del (n.1402-10782_1402-10780del)
c.1787_1789del (p.Phe596del)
c.1967_1969del (p.Phe656del)
c.1634_1636del (p.Phe545del)
 gnomAD v4
7g.117592046T>ACA368978588CFTRc.1879T>A (p.Tyr627Asn)
c.*1593T>A (n.*1593T>A)
c.1696T>A (p.Tyr566Asn)
c.*179T>A (n.*179T>A)
c.*1703T>A (n.*1703T>A)
c.1453T>A (p.Tyr485Asn)
c.1402-10780T>A (n.1402-10780T>A)
c.1789T>A (p.Tyr597Asn)
c.1969T>A (p.Tyr657Asn)
c.1636T>A (p.Tyr546Asn)
7g.117592046T>CCA368978592CFTRc.1879T>C (p.Tyr627His)
c.*1593T>C (n.*1593T>C)
c.1696T>C (p.Tyr566His)
c.*179T>C (n.*179T>C)
c.*1703T>C (n.*1703T>C)
c.1453T>C (p.Tyr485His)
c.1402-10780T>C (n.1402-10780T>C)
c.1789T>C (p.Tyr597His)
c.1969T>C (p.Tyr657His)
c.1636T>C (p.Tyr546His)
7g.117592046T>GCA368978594CFTRc.1879T>G (p.Tyr627Asp)
c.*1593T>G (n.*1593T>G)
c.1696T>G (p.Tyr566Asp)
c.*179T>G (n.*179T>G)
c.*1703T>G (n.*1703T>G)
c.1453T>G (p.Tyr485Asp)
c.1402-10780T>G (n.1402-10780T>G)
c.1789T>G (p.Tyr597Asp)
c.1969T>G (p.Tyr657Asp)
c.1636T>G (p.Tyr546Asp)
7g.117592047A=CA1737394065CFTRc.1880A= (p.Tyr627=)
c.*1594A= (n.*1594A=)
c.1697A= (p.Tyr566=)
c.*180A= (n.*180A=)
c.*1704A= (n.*1704A=)
c.1454A= (p.Tyr485=)
c.1402-10779A= (n.1402-10779A=)
c.1790A= (p.Tyr597=)
c.1970A= (p.Tyr657=)
c.1637A= (p.Tyr546=)
7g.117592047A>CCA368978596CFTRc.1880A>C (p.Tyr627Ser)
c.*1594A>C (n.*1594A>C)
c.1697A>C (p.Tyr566Ser)
c.*180A>C (n.*180A>C)
c.*1704A>C (n.*1704A>C)
c.1454A>C (p.Tyr485Ser)
c.1402-10779A>C (n.1402-10779A>C)
c.1790A>C (p.Tyr597Ser)
c.1970A>C (p.Tyr657Ser)
c.1637A>C (p.Tyr546Ser)
7g.117592047A>GCA368978597CFTRc.1880A>G (p.Tyr627Cys)
c.*1594A>G (n.*1594A>G)
c.1697A>G (p.Tyr566Cys)
c.*180A>G (n.*180A>G)
c.*1704A>G (n.*1704A>G)
c.1454A>G (p.Tyr485Cys)
c.1402-10779A>G (n.1402-10779A>G)
c.1790A>G (p.Tyr597Cys)
c.1970A>G (p.Tyr657Cys)
c.1637A>G (p.Tyr546Cys)
 dbSNP gnomAD v2 gnomAD v4
7g.117592047A>TCA368978598CFTRc.1880A>T (p.Tyr627Phe)
c.*1594A>T (n.*1594A>T)
c.1697A>T (p.Tyr566Phe)
c.*180A>T (n.*180A>T)
c.*1704A>T (n.*1704A>T)
c.1454A>T (p.Tyr485Phe)
c.1402-10779A>T (n.1402-10779A>T)
c.1790A>T (p.Tyr597Phe)
c.1970A>T (p.Tyr657Phe)
c.1637A>T (p.Tyr546Phe)
7g.117592048T>ACA368978602CFTRc.1881T>A (p.Tyr627Ter)
c.*1595T>A (n.*1595T>A)
c.1698T>A (p.Tyr566Ter)
c.*181T>A (n.*181T>A)
c.*1705T>A (n.*1705T>A)
c.1455T>A (p.Tyr485Ter)
c.1402-10778T>A (n.1402-10778T>A)
c.1791T>A (p.Tyr597Ter)
c.1971T>A (p.Tyr657Ter)
c.1638T>A (p.Tyr546Ter)
7g.117592048T>CCA457448864CFTRc.1881T>C (p.Tyr627=)
c.*1595T>C (n.*1595T>C)
c.1698T>C (p.Tyr566=)
c.*181T>C (n.*181T>C)
c.*1705T>C (n.*1705T>C)
c.1455T>C (p.Tyr485=)
c.1402-10778T>C (n.1402-10778T>C)
c.1791T>C (p.Tyr597=)
c.1971T>C (p.Tyr657=)
c.1638T>C (p.Tyr546=)
 ClinVar
7g.117592048T>GCA368978603CFTRc.1881T>G (p.Tyr627Ter)
c.*1595T>G (n.*1595T>G)
c.1698T>G (p.Tyr566Ter)
c.*181T>G (n.*181T>G)
c.*1705T>G (n.*1705T>G)
c.1455T>G (p.Tyr485Ter)
c.1402-10778T>G (n.1402-10778T>G)
c.1791T>G (p.Tyr597Ter)
c.1971T>G (p.Tyr657Ter)
c.1638T>G (p.Tyr546Ter)
7g.117592049G>ACA326706CFTRc.1882G>A (p.Gly628Arg)
c.*1596G>A (n.*1596G>A)
c.1699G>A (p.Gly567Arg)
c.*182G>A (n.*182G>A)
c.*1706G>A (n.*1706G>A)
c.1456G>A (p.Gly486Arg)
c.1402-10777G>A (n.1402-10777G>A)
c.1792G>A (p.Gly598Arg)
c.1972G>A (p.Gly658Arg)
c.1639G>A (p.Gly547Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592049G>CCA326707CFTRc.1882G>C (p.Gly628Arg)
c.*1596G>C (n.*1596G>C)
c.1699G>C (p.Gly567Arg)
c.*182G>C (n.*182G>C)
c.*1706G>C (n.*1706G>C)
c.1456G>C (p.Gly486Arg)
c.1402-10777G>C (n.1402-10777G>C)
c.1792G>C (p.Gly598Arg)
c.1972G>C (p.Gly658Arg)
c.1639G>C (p.Gly547Arg)
 ClinVar dbSNP gnomAD v4
7g.117592049G=CA1737394069CFTRc.1882G= (p.Gly628=)
c.*1596G= (n.*1596G=)
c.1699G= (p.Gly567=)
c.*182G= (n.*182G=)
c.*1706G= (n.*1706G=)
c.1456G= (p.Gly486=)
c.1402-10777G= (n.1402-10777G=)
c.1792G= (p.Gly598=)
c.1972G= (p.Gly658=)
c.1639G= (p.Gly547=)
7g.117592049G>TCA368978610CFTRc.1882G>T (p.Gly628Trp)
c.*1596G>T (n.*1596G>T)
c.1699G>T (p.Gly567Trp)
c.*182G>T (n.*182G>T)
c.*1706G>T (n.*1706G>T)
c.1456G>T (p.Gly486Trp)
c.1402-10777G>T (n.1402-10777G>T)
c.1792G>T (p.Gly598Trp)
c.1972G>T (p.Gly658Trp)
c.1639G>T (p.Gly547Trp)
7g.117592050G>ACA368978612CFTRc.1883G>A (p.Gly628Glu)
c.*1597G>A (n.*1597G>A)
c.1700G>A (p.Gly567Glu)
c.*183G>A (n.*183G>A)
c.*1707G>A (n.*1707G>A)
c.1457G>A (p.Gly486Glu)
c.1402-10776G>A (n.1402-10776G>A)
c.1793G>A (p.Gly598Glu)
c.1973G>A (p.Gly658Glu)
c.1640G>A (p.Gly547Glu)
7g.117592050G>CCA368978613CFTRc.1883G>C (p.Gly628Ala)
c.*1597G>C (n.*1597G>C)
c.1700G>C (p.Gly567Ala)
c.*183G>C (n.*183G>C)
c.*1707G>C (n.*1707G>C)
c.1457G>C (p.Gly486Ala)
c.1402-10776G>C (n.1402-10776G>C)
c.1793G>C (p.Gly598Ala)
c.1973G>C (p.Gly658Ala)
c.1640G>C (p.Gly547Ala)
 ClinVar dbSNP
7g.117592050G=CA1737394077CFTRc.1883G= (p.Gly628=)
c.*1597G= (n.*1597G=)
c.1700G= (p.Gly567=)
c.*183G= (n.*183G=)
c.*1707G= (n.*1707G=)
c.1457G= (p.Gly486=)
c.1402-10776G= (n.1402-10776G=)
c.1793G= (p.Gly598=)
c.1973G= (p.Gly658=)
c.1640G= (p.Gly547=)
7g.117592050G>TCA368978611CFTRc.1883G>T (p.Gly628Val)
c.*1597G>T (n.*1597G>T)
c.1700G>T (p.Gly567Val)
c.*183G>T (n.*183G>T)
c.*1707G>T (n.*1707G>T)
c.1457G>T (p.Gly486Val)
c.1402-10776G>T (n.1402-10776G>T)
c.1793G>T (p.Gly598Val)
c.1973G>T (p.Gly658Val)
c.1640G>T (p.Gly547Val)
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
7g.117592064C=CA1737394103CFTRc.1897C= (p.Leu633=)
c.*1611C= (n.*1611C=)
c.1714C= (p.Leu572=)
c.*197C= (n.*197C=)
c.*1721C= (n.*1721C=)
c.1471C= (p.Leu491=)
c.1402-10762C= (n.1402-10762C=)
c.1807C= (p.Leu603=)
c.1987C= (p.Leu663=)
c.1654C= (p.Leu552=)
7g.117592064C>GCA368978706CFTRc.1897C>G (p.Leu633Val)
c.*1611C>G (n.*1611C>G)
c.1714C>G (p.Leu572Val)
c.*197C>G (n.*197C>G)
c.*1721C>G (n.*1721C>G)
c.1471C>G (p.Leu491Val)
c.1402-10762C>G (n.1402-10762C>G)
c.1807C>G (p.Leu603Val)
c.1987C>G (p.Leu663Val)
c.1654C>G (p.Leu552Val)
 dbSNP gnomAD v3 gnomAD v4
7g.117592064C>TCA368978704CFTRc.1897C>T (p.Leu633Phe)
c.*1611C>T (n.*1611C>T)
c.1714C>T (p.Leu572Phe)
c.*197C>T (n.*197C>T)
c.*1721C>T (n.*1721C>T)
c.1471C>T (p.Leu491Phe)
c.1402-10762C>T (n.1402-10762C>T)
c.1807C>T (p.Leu603Phe)
c.1987C>T (p.Leu663Phe)
c.1654C>T (p.Leu552Phe)
7g.117592065T>ACA368978707CFTRc.1898T>A (p.Leu633His)
c.*1612T>A (n.*1612T>A)
c.1715T>A (p.Leu572His)
c.*198T>A (n.*198T>A)
c.*1722T>A (n.*1722T>A)
c.1472T>A (p.Leu491His)
c.1402-10761T>A (n.1402-10761T>A)
c.1808T>A (p.Leu603His)
c.1988T>A (p.Leu663His)
c.1655T>A (p.Leu552His)
7g.117592065T>CCA326710CFTRc.1898T>C (p.Leu633Pro)
c.*1612T>C (n.*1612T>C)
c.1715T>C (p.Leu572Pro)
c.*198T>C (n.*198T>C)
c.*1722T>C (n.*1722T>C)
c.1472T>C (p.Leu491Pro)
c.1402-10761T>C (n.1402-10761T>C)
c.1808T>C (p.Leu603Pro)
c.1988T>C (p.Leu663Pro)
c.1655T>C (p.Leu552Pro)
 ClinVar dbSNP
7g.117592065T>GCA368978710CFTRc.1898T>G (p.Leu633Arg)
c.*1612T>G (n.*1612T>G)
c.1715T>G (p.Leu572Arg)
c.*198T>G (n.*198T>G)
c.*1722T>G (n.*1722T>G)
c.1472T>G (p.Leu491Arg)
c.1402-10761T>G (n.1402-10761T>G)
c.1808T>G (p.Leu603Arg)
c.1988T>G (p.Leu663Arg)
c.1655T>G (p.Leu552Arg)
7g.117592065T=CA1737394109CFTRc.1898T= (p.Leu633=)
c.*1612T= (n.*1612T=)
c.1715T= (p.Leu572=)
c.*198T= (n.*198T=)
c.*1722T= (n.*1722T=)
c.1472T= (p.Leu491=)
c.1402-10761T= (n.1402-10761T=)
c.1808T= (p.Leu603=)
c.1988T= (p.Leu663=)
c.1655T= (p.Leu552=)
7g.117592066C>ACA457448876CFTRc.1899C>A (p.Leu633=)
c.*1613C>A (n.*1613C>A)
c.1716C>A (p.Leu572=)
c.*199C>A (n.*199C>A)
c.*1723C>A (n.*1723C>A)
c.1473C>A (p.Leu491=)
c.1402-10760C>A (n.1402-10760C>A)
c.1809C>A (p.Leu603=)
c.1989C>A (p.Leu663=)
c.1656C>A (p.Leu552=)
7g.117592066C=CA1737394115CFTRc.1899C= (p.Leu633=)
c.*1613C= (n.*1613C=)
c.1716C= (p.Leu572=)
c.*199C= (n.*199C=)
c.*1723C= (n.*1723C=)
c.1473C= (p.Leu491=)
c.1402-10760C= (n.1402-10760C=)
c.1809C= (p.Leu603=)
c.1989C= (p.Leu663=)
c.1656C= (p.Leu552=)
7g.117592066C>GCA457448877CFTRc.1899C>G (p.Leu633=)
c.*1613C>G (n.*1613C>G)
c.1716C>G (p.Leu572=)
c.*199C>G (n.*199C>G)
c.*1723C>G (n.*1723C>G)
c.1473C>G (p.Leu491=)
c.1402-10760C>G (n.1402-10760C>G)
c.1809C>G (p.Leu603=)
c.1989C>G (p.Leu663=)
c.1656C>G (p.Leu552=)
7g.117592066C>TCA457448878CFTRc.1899C>T (p.Leu633=)
c.*1613C>T (n.*1613C>T)
c.1716C>T (p.Leu572=)
c.*199C>T (n.*199C>T)
c.*1723C>T (n.*1723C>T)
c.1473C>T (p.Leu491=)
c.1402-10760C>T (n.1402-10760C>T)
c.1809C>T (p.Leu603=)
c.1989C>T (p.Leu663=)
c.1656C>T (p.Leu552=)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
7g.117592067C>ACA368978712CFTRc.1900C>A (p.Gln634Lys)
c.*1614C>A (n.*1614C>A)
c.1717C>A (p.Gln573Lys)
c.*200C>A (n.*200C>A)
c.*1724C>A (n.*1724C>A)
c.1474C>A (p.Gln492Lys)
c.1402-10759C>A (n.1402-10759C>A)
c.1810C>A (p.Gln604Lys)
c.1990C>A (p.Gln664Lys)
c.1657C>A (p.Gln553Lys)
7g.117592067C=CA1737394120CFTRc.1900C= (p.Gln634=)
c.*1614C= (n.*1614C=)
c.1717C= (p.Gln573=)
c.*200C= (n.*200C=)
c.*1724C= (n.*1724C=)
c.1474C= (p.Gln492=)
c.1402-10759C= (n.1402-10759C=)
c.1810C= (p.Gln604=)
c.1990C= (p.Gln664=)
c.1657C= (p.Gln553=)
7g.117592067C>GCA368978714CFTRc.1900C>G (p.Gln634Glu)
c.*1614C>G (n.*1614C>G)
c.1717C>G (p.Gln573Glu)
c.*200C>G (n.*200C>G)
c.*1724C>G (n.*1724C>G)
c.1474C>G (p.Gln492Glu)
c.1402-10759C>G (n.1402-10759C>G)
c.1810C>G (p.Gln604Glu)
c.1990C>G (p.Gln664Glu)
c.1657C>G (p.Gln553Glu)
7g.117592067C>TCA326711CFTRc.1900C>T (p.Gln634Ter)
c.*1614C>T (n.*1614C>T)
c.1717C>T (p.Gln573Ter)
c.*200C>T (n.*200C>T)
c.*1724C>T (n.*1724C>T)
c.1474C>T (p.Gln492Ter)
c.1402-10759C>T (n.1402-10759C>T)
c.1810C>T (p.Gln604Ter)
c.1990C>T (p.Gln664Ter)
c.1657C>T (p.Gln553Ter)
 dbSNP
7g.117592067_117592068delinsCACA1737394121CFTRc.1900_1901delinsCA (p.Gln634=)
c.*1614_*1615delinsCA (n.*1614_*1615delinsCA)
c.1717_1718delinsCA (p.Gln573=)
c.*200_*201delinsCA (n.*200_*201delinsCA)
c.*1724_*1725delinsCA (n.*1724_*1725delinsCA)
c.1474_1475delinsCA (p.Gln492=)
c.1402-10759_1402-10758delinsCA (n.1402-10759_1402-10758delinsCA)
c.1810_1811delinsCA (p.Gln604=)
c.1990_1991delinsCA (p.Gln664=)
c.1657_1658delinsCA (p.Gln553=)
7g.117592068A>CCA368978717CFTRc.1901A>C (p.Gln634Pro)
c.*1615A>C (n.*1615A>C)
c.1718A>C (p.Gln573Pro)
c.*201A>C (n.*201A>C)
c.*1725A>C (n.*1725A>C)
c.1475A>C (p.Gln492Pro)
c.1402-10758A>C (n.1402-10758A>C)
c.1811A>C (p.Gln604Pro)
c.1991A>C (p.Gln664Pro)
c.1658A>C (p.Gln553Pro)
7g.117592068A>GCA368978719CFTRc.1901A>G (p.Gln634Arg)
c.*1615A>G (n.*1615A>G)
c.1718A>G (p.Gln573Arg)
c.*201A>G (n.*201A>G)
c.*1725A>G (n.*1725A>G)
c.1475A>G (p.Gln492Arg)
c.1402-10758A>G (n.1402-10758A>G)
c.1811A>G (p.Gln604Arg)
c.1991A>G (p.Gln664Arg)
c.1658A>G (p.Gln553Arg)
7g.117592068A>TCA368978720CFTRc.1901A>T (p.Gln634Leu)
c.*1615A>T (n.*1615A>T)
c.1718A>T (p.Gln573Leu)
c.*201A>T (n.*201A>T)
c.*1725A>T (n.*1725A>T)
c.1475A>T (p.Gln492Leu)
c.1402-10758A>T (n.1402-10758A>T)
c.1811A>T (p.Gln604Leu)
c.1991A>T (p.Gln664Leu)
c.1658A>T (p.Gln553Leu)
7g.117592071delCA577680754CFTRc.1904del (p.Asn635IlefsTer28)
c.*1618del (n.*1618del)
c.1721del (p.Asn574IlefsTer28)
c.*204del (n.*204del)
c.*1728del (n.*1728del)
c.1478del (p.Asn493IlefsTer28)
c.1402-10755del (n.1402-10755del)
c.1814del (p.Asn605IlefsTer28)
c.1994del (p.Asn665IlefsTer28)
c.1661del (p.Asn554IlefsTer28)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117592069A>CCA368978721CFTRc.1902A>C (p.Gln634His)
c.*1616A>C (n.*1616A>C)
c.1719A>C (p.Gln573His)
c.*202A>C (n.*202A>C)
c.*1726A>C (n.*1726A>C)
c.1476A>C (p.Gln492His)
c.1402-10757A>C (n.1402-10757A>C)
c.1812A>C (p.Gln604His)
c.1992A>C (p.Gln664His)
c.1659A>C (p.Gln553His)
 ClinVar
7g.117592069A>GCA457448879CFTRc.1902A>G (p.Gln634=)
c.*1616A>G (n.*1616A>G)
c.1719A>G (p.Gln573=)
c.*202A>G (n.*202A>G)
c.*1726A>G (n.*1726A>G)
c.1476A>G (p.Gln492=)
c.1402-10757A>G (n.1402-10757A>G)
c.1812A>G (p.Gln604=)
c.1992A>G (p.Gln664=)
c.1659A>G (p.Gln553=)
 ClinVar dbSNP
7g.117592069A>TCA368978722CFTRc.1902A>T (p.Gln634His)
c.*1616A>T (n.*1616A>T)
c.1719A>T (p.Gln573His)
c.*202A>T (n.*202A>T)
c.*1726A>T (n.*1726A>T)
c.1476A>T (p.Gln492His)
c.1402-10757A>T (n.1402-10757A>T)
c.1812A>T (p.Gln604His)
c.1992A>T (p.Gln664His)
c.1659A>T (p.Gln553His)
7g.117592070A>CCA368978728CFTRc.1903A>C (p.Asn635His)
c.*1617A>C (n.*1617A>C)
c.1720A>C (p.Asn574His)
c.*203A>C (n.*203A>C)
c.*1727A>C (n.*1727A>C)
c.1477A>C (p.Asn493His)
c.1402-10756A>C (n.1402-10756A>C)
c.1813A>C (p.Asn605His)
c.1993A>C (p.Asn665His)
c.1660A>C (p.Asn554His)
7g.117592070A>GCA368978726CFTRc.1903A>G (p.Asn635Asp)
c.*1617A>G (n.*1617A>G)
c.1720A>G (p.Asn574Asp)
c.*203A>G (n.*203A>G)
c.*1727A>G (n.*1727A>G)
c.1477A>G (p.Asn493Asp)
c.1402-10756A>G (n.1402-10756A>G)
c.1813A>G (p.Asn605Asp)
c.1993A>G (p.Asn665Asp)
c.1660A>G (p.Asn554Asp)
7g.117592070A>TCA368978725CFTRc.1903A>T (p.Asn635Tyr)
c.*1617A>T (n.*1617A>T)
c.1720A>T (p.Asn574Tyr)
c.*203A>T (n.*203A>T)
c.*1727A>T (n.*1727A>T)
c.1477A>T (p.Asn493Tyr)
c.1402-10756A>T (n.1402-10756A>T)
c.1813A>T (p.Asn605Tyr)
c.1993A>T (p.Asn665Tyr)
c.1660A>T (p.Asn554Tyr)
7g.117592071A=CA1737394129CFTRc.1904A= (p.Asn635=)
c.*1618A= (n.*1618A=)
c.1721A= (p.Asn574=)
c.*204A= (n.*204A=)
c.*1728A= (n.*1728A=)
c.1478A= (p.Asn493=)
c.1402-10755A= (n.1402-10755A=)
c.1814A= (p.Asn605=)
c.1994A= (p.Asn665=)
c.1661A= (p.Asn554=)
7g.117592071A>CCA368978732CFTRc.1904A>C (p.Asn635Thr)
c.*1618A>C (n.*1618A>C)
c.1721A>C (p.Asn574Thr)
c.*204A>C (n.*204A>C)
c.*1728A>C (n.*1728A>C)
c.1478A>C (p.Asn493Thr)
c.1402-10755A>C (n.1402-10755A>C)
c.1814A>C (p.Asn605Thr)
c.1994A>C (p.Asn665Thr)
c.1661A>C (p.Asn554Thr)
 dbSNP gnomAD v2 gnomAD v4
7g.117592071A>GCA368978735CFTRc.1904A>G (p.Asn635Ser)
c.*1618A>G (n.*1618A>G)
c.1721A>G (p.Asn574Ser)
c.*204A>G (n.*204A>G)
c.*1728A>G (n.*1728A>G)
c.1478A>G (p.Asn493Ser)
c.1402-10755A>G (n.1402-10755A>G)
c.1814A>G (p.Asn605Ser)
c.1994A>G (p.Asn665Ser)
c.1661A>G (p.Asn554Ser)
7g.117592071A>TCA368978736CFTRc.1904A>T (p.Asn635Ile)
c.*1618A>T (n.*1618A>T)
c.1721A>T (p.Asn574Ile)
c.*204A>T (n.*204A>T)
c.*1728A>T (n.*1728A>T)
c.1478A>T (p.Asn493Ile)
c.1402-10755A>T (n.1402-10755A>T)
c.1814A>T (p.Asn605Ile)
c.1994A>T (p.Asn665Ile)
c.1661A>T (p.Asn554Ile)
7g.117592072T>ACA368978738CFTRc.1905T>A (p.Asn635Lys)
c.*1619T>A (n.*1619T>A)
c.1722T>A (p.Asn574Lys)
c.*205T>A (n.*205T>A)
c.*1729T>A (n.*1729T>A)
c.1479T>A (p.Asn493Lys)
c.1402-10754T>A (n.1402-10754T>A)
c.1815T>A (p.Asn605Lys)
c.1995T>A (p.Asn665Lys)
c.1662T>A (p.Asn554Lys)
 ClinVar
7g.117592072T>CCA457448880CFTRc.1905T>C (p.Asn635=)
c.*1619T>C (n.*1619T>C)
c.1722T>C (p.Asn574=)
c.*205T>C (n.*205T>C)
c.*1729T>C (n.*1729T>C)
c.1479T>C (p.Asn493=)
c.1402-10754T>C (n.1402-10754T>C)
c.1815T>C (p.Asn605=)
c.1995T>C (p.Asn665=)
c.1662T>C (p.Asn554=)
 ClinVar
7g.117592072T>GCA368978739CFTRc.1905T>G (p.Asn635Lys)
c.*1619T>G (n.*1619T>G)
c.1722T>G (p.Asn574Lys)
c.*205T>G (n.*205T>G)
c.*1729T>G (n.*1729T>G)
c.1479T>G (p.Asn493Lys)
c.1402-10754T>G (n.1402-10754T>G)
c.1815T>G (p.Asn605Lys)
c.1995T>G (p.Asn665Lys)
c.1662T>G (p.Asn554Lys)
7g.117592073C>ACA368978741CFTRc.1906C>A (p.Leu636Ile)
c.*1620C>A (n.*1620C>A)
c.1723C>A (p.Leu575Ile)
c.*206C>A (n.*206C>A)
c.*1730C>A (n.*1730C>A)
c.1480C>A (p.Leu494Ile)
c.1402-10753C>A (n.1402-10753C>A)
c.1816C>A (p.Leu606Ile)
c.1996C>A (p.Leu666Ile)
c.1663C>A (p.Leu555Ile)
7g.117592073C>GCA368978743CFTRc.1906C>G (p.Leu636Val)
c.*1620C>G (n.*1620C>G)
c.1723C>G (p.Leu575Val)
c.*206C>G (n.*206C>G)
c.*1730C>G (n.*1730C>G)
c.1480C>G (p.Leu494Val)
c.1402-10753C>G (n.1402-10753C>G)
c.1816C>G (p.Leu606Val)
c.1996C>G (p.Leu666Val)
c.1663C>G (p.Leu555Val)
7g.117592073C>TCA457448881CFTRc.1906C>T (p.Leu636=)
c.*1620C>T (n.*1620C>T)
c.1723C>T (p.Leu575=)
c.*206C>T (n.*206C>T)
c.*1730C>T (n.*1730C>T)
c.1480C>T (p.Leu494=)
c.1402-10753C>T (n.1402-10753C>T)
c.1816C>T (p.Leu606=)
c.1996C>T (p.Leu666=)
c.1663C>T (p.Leu555=)
7g.117592074T>ACA368978746CFTRc.1907T>A (p.Leu636Gln)
c.*1621T>A (n.*1621T>A)
c.1724T>A (p.Leu575Gln)
c.*207T>A (n.*207T>A)
c.*1731T>A (n.*1731T>A)
c.1481T>A (p.Leu494Gln)
c.1402-10752T>A (n.1402-10752T>A)
c.1817T>A (p.Leu606Gln)
c.1997T>A (p.Leu666Gln)
c.1664T>A (p.Leu555Gln)
7g.117592074T>CCA4451111CFTRc.1907T>C (p.Leu636Pro)
c.*1621T>C (n.*1621T>C)
c.1724T>C (p.Leu575Pro)
c.*207T>C (n.*207T>C)
c.*1731T>C (n.*1731T>C)
c.1481T>C (p.Leu494Pro)
c.1402-10752T>C (n.1402-10752T>C)
c.1817T>C (p.Leu606Pro)
c.1997T>C (p.Leu666Pro)
c.1664T>C (p.Leu555Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592074T>GCA368978749CFTRc.1907T>G (p.Leu636Arg)
c.*1621T>G (n.*1621T>G)
c.1724T>G (p.Leu575Arg)
c.*207T>G (n.*207T>G)
c.*1731T>G (n.*1731T>G)
c.1481T>G (p.Leu494Arg)
c.1402-10752T>G (n.1402-10752T>G)
c.1817T>G (p.Leu606Arg)
c.1997T>G (p.Leu666Arg)
c.1664T>G (p.Leu555Arg)
7g.117592074T=CA1737394135CFTRc.1907T= (p.Leu636=)
c.*1621T= (n.*1621T=)
c.1724T= (p.Leu575=)
c.*207T= (n.*207T=)
c.*1731T= (n.*1731T=)
c.1481T= (p.Leu494=)
c.1402-10752T= (n.1402-10752T=)
c.1817T= (p.Leu606=)
c.1997T= (p.Leu666=)
c.1664T= (p.Leu555=)
7g.117592075A>CCA457448882CFTRc.1908A>C (p.Leu636=)
c.*1622A>C (n.*1622A>C)
c.1725A>C (p.Leu575=)
c.*208A>C (n.*208A>C)
c.*1732A>C (n.*1732A>C)
c.1482A>C (p.Leu494=)
c.1402-10751A>C (n.1402-10751A>C)
c.1818A>C (p.Leu606=)
c.1998A>C (p.Leu666=)
c.1665A>C (p.Leu555=)
7g.117592075A>GCA457448884CFTRc.1908A>G (p.Leu636=)
c.*1622A>G (n.*1622A>G)
c.1725A>G (p.Leu575=)
c.*208A>G (n.*208A>G)
c.*1732A>G (n.*1732A>G)
c.1482A>G (p.Leu494=)
c.1402-10751A>G (n.1402-10751A>G)
c.1818A>G (p.Leu606=)
c.1998A>G (p.Leu666=)
c.1665A>G (p.Leu555=)
 gnomAD v4
7g.117592075A>TCA457448883CFTRc.1908A>T (p.Leu636=)
c.*1622A>T (n.*1622A>T)
c.1725A>T (p.Leu575=)
c.*208A>T (n.*208A>T)
c.*1732A>T (n.*1732A>T)
c.1482A>T (p.Leu494=)
c.1402-10751A>T (n.1402-10751A>T)
c.1818A>T (p.Leu606=)
c.1998A>T (p.Leu666=)
c.1665A>T (p.Leu555=)
7g.117592076C>ACA368978753CFTRc.1909C>A (p.Gln637Lys)
c.*1623C>A (n.*1623C>A)
c.1726C>A (p.Gln576Lys)
c.*209C>A (n.*209C>A)
c.*1733C>A (n.*1733C>A)
c.1483C>A (p.Gln495Lys)
c.1402-10750C>A (n.1402-10750C>A)
c.1819C>A (p.Gln607Lys)
c.1999C>A (p.Gln667Lys)
c.1666C>A (p.Gln556Lys)
 ClinVar dbSNP gnomAD v4
7g.117592076C=CA1737394141CFTRc.1909C= (p.Gln637=)
c.*1623C= (n.*1623C=)
c.1726C= (p.Gln576=)
c.*209C= (n.*209C=)
c.*1733C= (n.*1733C=)
c.1483C= (p.Gln495=)
c.1402-10750C= (n.1402-10750C=)
c.1819C= (p.Gln607=)
c.1999C= (p.Gln667=)
c.1666C= (p.Gln556=)
7g.117592076C>GCA368978755CFTRc.1909C>G (p.Gln637Glu)
c.*1623C>G (n.*1623C>G)
c.1726C>G (p.Gln576Glu)
c.*209C>G (n.*209C>G)
c.*1733C>G (n.*1733C>G)
c.1483C>G (p.Gln495Glu)
c.1402-10750C>G (n.1402-10750C>G)
c.1819C>G (p.Gln607Glu)
c.1999C>G (p.Gln667Glu)
c.1666C>G (p.Gln556Glu)
7g.117592076C>TCA326713CFTRc.1909C>T (p.Gln637Ter)
c.*1623C>T (n.*1623C>T)
c.1726C>T (p.Gln576Ter)
c.*209C>T (n.*209C>T)
c.*1733C>T (n.*1733C>T)
c.1483C>T (p.Gln495Ter)
c.1402-10750C>T (n.1402-10750C>T)
c.1819C>T (p.Gln607Ter)
c.1999C>T (p.Gln667Ter)
c.1666C>T (p.Gln556Ter)
 ClinVar dbSNP
7g.117592077A>CCA368978758CFTRc.1910A>C (p.Gln637Pro)
c.*1624A>C (n.*1624A>C)
c.1727A>C (p.Gln576Pro)
c.*210A>C (n.*210A>C)
c.*1734A>C (n.*1734A>C)
c.1484A>C (p.Gln495Pro)
c.1402-10749A>C (n.1402-10749A>C)
c.1820A>C (p.Gln607Pro)
c.2000A>C (p.Gln667Pro)
c.1667A>C (p.Gln556Pro)
7g.117592077A>GCA368978759CFTRc.1910A>G (p.Gln637Arg)
c.*1624A>G (n.*1624A>G)
c.1727A>G (p.Gln576Arg)
c.*210A>G (n.*210A>G)
c.*1734A>G (n.*1734A>G)
c.1484A>G (p.Gln495Arg)
c.1402-10749A>G (n.1402-10749A>G)
c.1820A>G (p.Gln607Arg)
c.2000A>G (p.Gln667Arg)
c.1667A>G (p.Gln556Arg)
 dbSNP
7g.117592077A>TCA368978757CFTRc.1910A>T (p.Gln637Leu)
c.*1624A>T (n.*1624A>T)
c.1727A>T (p.Gln576Leu)
c.*210A>T (n.*210A>T)
c.*1734A>T (n.*1734A>T)
c.1484A>T (p.Gln495Leu)
c.1402-10749A>T (n.1402-10749A>T)
c.1820A>T (p.Gln607Leu)
c.2000A>T (p.Gln667Leu)
c.1667A>T (p.Gln556Leu)
7g.117592077_117592078delinsAGCA1737394147CFTRc.1910_1911delinsAG (p.Gln637=)
c.*1624_*1625delinsAG (n.*1624_*1625delinsAG)
c.1727_1728delinsAG (p.Gln576=)
c.*210_*211delinsAG (n.*210_*211delinsAG)
c.*1734_*1735delinsAG (n.*1734_*1735delinsAG)
c.1484_1485delinsAG (p.Gln495=)
c.1402-10749_1402-10748delinsAG (n.1402-10749_1402-10748delinsAG)
c.1820_1821delinsAG (p.Gln607=)
c.2000_2001delinsAG (p.Gln667=)
c.1667_1668delinsAG (p.Gln556=)
7g.117592078delCA325698CFTRc.1911del (p.Gln637HisfsTer26)
c.*1625del (n.*1625del)
c.1728del (p.Gln576HisfsTer26)
c.*211del (n.*211del)
c.*1735del (n.*1735del)
c.1485del (p.Gln495HisfsTer26)
c.1402-10748del (n.1402-10748del)
c.1821del (p.Gln607HisfsTer26)
c.2001del (p.Gln667HisfsTer26)
c.1668del (p.Gln556HisfsTer26)
 ClinVar dbSNP gnomAD v4
7g.117592078G>ACA457448885CFTRc.1911G>A (p.Gln637=)
c.*1625G>A (n.*1625G>A)
c.1728G>A (p.Gln576=)
c.*211G>A (n.*211G>A)
c.*1735G>A (n.*1735G>A)
c.1485G>A (p.Gln495=)
c.1402-10748G>A (n.1402-10748G>A)
c.1821G>A (p.Gln607=)
c.2001G>A (p.Gln667=)
c.1668G>A (p.Gln556=)
7g.117592078G>CCA164947579CFTRc.1911G>C (p.Gln637His)
c.*1625G>C (n.*1625G>C)
c.1728G>C (p.Gln576His)
c.*211G>C (n.*211G>C)
c.*1735G>C (n.*1735G>C)
c.1485G>C (p.Gln495His)
c.1402-10748G>C (n.1402-10748G>C)
c.1821G>C (p.Gln607His)
c.2001G>C (p.Gln667His)
c.1668G>C (p.Gln556His)
7g.117592078G>TCA368978761CFTRc.1911G>T (p.Gln637His)
c.*1625G>T (n.*1625G>T)
c.1728G>T (p.Gln576His)
c.*211G>T (n.*211G>T)
c.*1735G>T (n.*1735G>T)
c.1485G>T (p.Gln495His)
c.1402-10748G>T (n.1402-10748G>T)
c.1821G>T (p.Gln607His)
c.2001G>T (p.Gln667His)
c.1668G>T (p.Gln556His)
7g.117592079C>ACA368978765CFTRc.1912C>A (p.Pro638Thr)
c.*1626C>A (n.*1626C>A)
c.1729C>A (p.Pro577Thr)
c.*212C>A (n.*212C>A)
c.*1736C>A (n.*1736C>A)
c.1486C>A (p.Pro496Thr)
c.1402-10747C>A (n.1402-10747C>A)
c.1822C>A (p.Pro608Thr)
c.2002C>A (p.Pro668Thr)
c.1669C>A (p.Pro557Thr)
7g.117592079C=CA1737394156CFTRc.1912C= (p.Pro638=)
c.*1626C= (n.*1626C=)
c.1729C= (p.Pro577=)
c.*212C= (n.*212C=)
c.*1736C= (n.*1736C=)
c.1486C= (p.Pro496=)
c.1402-10747C= (n.1402-10747C=)
c.1822C= (p.Pro608=)
c.2002C= (p.Pro668=)
c.1669C= (p.Pro557=)
7g.117592079C>GCA368978766CFTRc.1912C>G (p.Pro638Ala)
c.*1626C>G (n.*1626C>G)
c.1729C>G (p.Pro577Ala)
c.*212C>G (n.*212C>G)
c.*1736C>G (n.*1736C>G)
c.1486C>G (p.Pro496Ala)
c.1402-10747C>G (n.1402-10747C>G)
c.1822C>G (p.Pro608Ala)
c.2002C>G (p.Pro668Ala)
c.1669C>G (p.Pro557Ala)
7g.117592079C>TCA368978768CFTRc.1912C>T (p.Pro638Ser)
c.*1626C>T (n.*1626C>T)
c.1729C>T (p.Pro577Ser)
c.*212C>T (n.*212C>T)
c.*1736C>T (n.*1736C>T)
c.1486C>T (p.Pro496Ser)
c.1402-10747C>T (n.1402-10747C>T)
c.1822C>T (p.Pro608Ser)
c.2002C>T (p.Pro668Ser)
c.1669C>T (p.Pro557Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117592080C>ACA368978772CFTRc.1913C>A (p.Pro638Gln)
c.*1627C>A (n.*1627C>A)
c.1730C>A (p.Pro577Gln)
c.*213C>A (n.*213C>A)
c.*1737C>A (n.*1737C>A)
c.1487C>A (p.Pro496Gln)
c.1402-10746C>A (n.1402-10746C>A)
c.1823C>A (p.Pro608Gln)
c.2003C>A (p.Pro668Gln)
c.1670C>A (p.Pro557Gln)
7g.117592080C=CA1737394166CFTRc.1913C= (p.Pro638=)
c.*1627C= (n.*1627C=)
c.1730C= (p.Pro577=)
c.*213C= (n.*213C=)
c.*1737C= (n.*1737C=)
c.1487C= (p.Pro496=)
c.1402-10746C= (n.1402-10746C=)
c.1823C= (p.Pro608=)
c.2003C= (p.Pro668=)
c.1670C= (p.Pro557=)
7g.117592080C>GCA368978774CFTRc.1913C>G (p.Pro638Arg)
c.*1627C>G (n.*1627C>G)
c.1730C>G (p.Pro577Arg)
c.*213C>G (n.*213C>G)
c.*1737C>G (n.*1737C>G)
c.1487C>G (p.Pro496Arg)
c.1402-10746C>G (n.1402-10746C>G)
c.1823C>G (p.Pro608Arg)
c.2003C>G (p.Pro668Arg)
c.1670C>G (p.Pro557Arg)
7g.117592080C>TCA368978775CFTRc.1913C>T (p.Pro638Leu)
c.*1627C>T (n.*1627C>T)
c.1730C>T (p.Pro577Leu)
c.*213C>T (n.*213C>T)
c.*1737C>T (n.*1737C>T)
c.1487C>T (p.Pro496Leu)
c.1402-10746C>T (n.1402-10746C>T)
c.1823C>T (p.Pro608Leu)
c.2003C>T (p.Pro668Leu)
c.1670C>T (p.Pro557Leu)
 ClinVar dbSNP
7g.117592081A>CCA457448886CFTRc.1914A>C (p.Pro638=)
c.*1628A>C (n.*1628A>C)
c.1731A>C (p.Pro577=)
c.*214A>C (n.*214A>C)
c.*1738A>C (n.*1738A>C)
c.1488A>C (p.Pro496=)
c.1402-10745A>C (n.1402-10745A>C)
c.1824A>C (p.Pro608=)
c.2004A>C (p.Pro668=)
c.1671A>C (p.Pro557=)
7g.117592081A>GCA457448888CFTRc.1914A>G (p.Pro638=)
c.*1628A>G (n.*1628A>G)
c.1731A>G (p.Pro577=)
c.*214A>G (n.*214A>G)
c.*1738A>G (n.*1738A>G)
c.1488A>G (p.Pro496=)
c.1402-10745A>G (n.1402-10745A>G)
c.1824A>G (p.Pro608=)
c.2004A>G (p.Pro668=)
c.1671A>G (p.Pro557=)
7g.117592081A>TCA457448887CFTRc.1914A>T (p.Pro638=)
c.*1628A>T (n.*1628A>T)
c.1731A>T (p.Pro577=)
c.*214A>T (n.*214A>T)
c.*1738A>T (n.*1738A>T)
c.1488A>T (p.Pro496=)
c.1402-10745A>T (n.1402-10745A>T)
c.1824A>T (p.Pro608=)
c.2004A>T (p.Pro668=)
c.1671A>T (p.Pro557=)
7g.117592082G>ACA368978778CFTRc.1915G>A (p.Asp639Asn)
c.*1629G>A (n.*1629G>A)
c.1732G>A (p.Asp578Asn)
c.*215G>A (n.*215G>A)
c.*1739G>A (n.*1739G>A)
c.1489G>A (p.Asp497Asn)
c.1402-10744G>A (n.1402-10744G>A)
c.1825G>A (p.Asp609Asn)
c.2005G>A (p.Asp669Asn)
c.1672G>A (p.Asp558Asn)
7g.117592082G>CCA368978780CFTRc.1915G>C (p.Asp639His)
c.*1629G>C (n.*1629G>C)
c.1732G>C (p.Asp578His)
c.*215G>C (n.*215G>C)
c.*1739G>C (n.*1739G>C)
c.1489G>C (p.Asp497His)
c.1402-10744G>C (n.1402-10744G>C)
c.1825G>C (p.Asp609His)
c.2005G>C (p.Asp669His)
c.1672G>C (p.Asp558His)
 ClinVar
7g.117592082G=CA1737394172CFTRc.1915G= (p.Asp639=)
c.*1629G= (n.*1629G=)
c.1732G= (p.Asp578=)
c.*215G= (n.*215G=)
c.*1739G= (n.*1739G=)
c.1489G= (p.Asp497=)
c.1402-10744G= (n.1402-10744G=)
c.1825G= (p.Asp609=)
c.2005G= (p.Asp669=)
c.1672G= (p.Asp558=)
7g.117592082G>TCA326715CFTRc.1915G>T (p.Asp639Tyr)
c.*1629G>T (n.*1629G>T)
c.1732G>T (p.Asp578Tyr)
c.*215G>T (n.*215G>T)
c.*1739G>T (n.*1739G>T)
c.1489G>T (p.Asp497Tyr)
c.1402-10744G>T (n.1402-10744G>T)
c.1825G>T (p.Asp609Tyr)
c.2005G>T (p.Asp669Tyr)
c.1672G>T (p.Asp558Tyr)
 dbSNP
7g.117592083A>CCA368978782CFTRc.1916A>C (p.Asp639Ala)
c.*1630A>C (n.*1630A>C)
c.1733A>C (p.Asp578Ala)
c.*216A>C (n.*216A>C)
c.*1740A>C (n.*1740A>C)
c.1490A>C (p.Asp497Ala)
c.1402-10743A>C (n.1402-10743A>C)
c.1826A>C (p.Asp609Ala)
c.2006A>C (p.Asp669Ala)
c.1673A>C (p.Asp558Ala)
7g.117592083A>GCA368978784CFTRc.1916A>G (p.Asp639Gly)
c.*1630A>G (n.*1630A>G)
c.1733A>G (p.Asp578Gly)
c.*216A>G (n.*216A>G)
c.*1740A>G (n.*1740A>G)
c.1490A>G (p.Asp497Gly)
c.1402-10743A>G (n.1402-10743A>G)
c.1826A>G (p.Asp609Gly)
c.2006A>G (p.Asp669Gly)
c.1673A>G (p.Asp558Gly)
7g.117592083A>TCA368978786CFTRc.1916A>T (p.Asp639Val)
c.*1630A>T (n.*1630A>T)
c.1733A>T (p.Asp578Val)
c.*216A>T (n.*216A>T)
c.*1740A>T (n.*1740A>T)
c.1490A>T (p.Asp497Val)
c.1402-10743A>T (n.1402-10743A>T)
c.1826A>T (p.Asp609Val)
c.2006A>T (p.Asp669Val)
c.1673A>T (p.Asp558Val)
7g.117592084C>ACA368978790CFTRc.1917C>A (p.Asp639Glu)
c.*1631C>A (n.*1631C>A)
c.1734C>A (p.Asp578Glu)
c.*217C>A (n.*217C>A)
c.*1741C>A (n.*1741C>A)
c.1491C>A (p.Asp497Glu)
c.1402-10742C>A (n.1402-10742C>A)
c.1827C>A (p.Asp609Glu)
c.2007C>A (p.Asp669Glu)
c.1674C>A (p.Asp558Glu)
7g.117592084C>GCA368978792CFTRc.1917C>G (p.Asp639Glu)
c.*1631C>G (n.*1631C>G)
c.1734C>G (p.Asp578Glu)
c.*217C>G (n.*217C>G)
c.*1741C>G (n.*1741C>G)
c.1491C>G (p.Asp497Glu)
c.1402-10742C>G (n.1402-10742C>G)
c.1827C>G (p.Asp609Glu)
c.2007C>G (p.Asp669Glu)
c.1674C>G (p.Asp558Glu)
7g.117592084C>TCA457448889CFTRc.1917C>T (p.Asp639=)
c.*1631C>T (n.*1631C>T)
c.1734C>T (p.Asp578=)
c.*217C>T (n.*217C>T)
c.*1741C>T (n.*1741C>T)
c.1491C>T (p.Asp497=)
c.1402-10742C>T (n.1402-10742C>T)
c.1827C>T (p.Asp609=)
c.2007C>T (p.Asp669=)
c.1674C>T (p.Asp558=)
7g.117592084_117592086delinsCTTCA1737394175CFTRc.1917_1919delinsCTT (p.Asp639=)
c.*1631_*1633delinsCTT (n.*1631_*1633delinsCTT)
c.1734_1736delinsCTT (p.Asp578=)
c.*217_*219delinsCTT (n.*217_*219delinsCTT)
c.*1741_*1743delinsCTT (n.*1741_*1743delinsCTT)
c.1491_1493delinsCTT (p.Asp497=)
c.1402-10742_1402-10740delinsCTT (n.1402-10742_1402-10740delinsCTT)
c.1827_1829delinsCTT (p.Asp609=)
c.2007_2009delinsCTT (p.Asp669=)
c.1674_1676delinsCTT (p.Asp558=)
7g.117592085T>ACA368978794CFTRc.1918T>A (p.Phe640Ile)
c.*1632T>A (n.*1632T>A)
c.1735T>A (p.Phe579Ile)
c.*218T>A (n.*218T>A)
c.*1742T>A (n.*1742T>A)
c.1492T>A (p.Phe498Ile)
c.1402-10741T>A (n.1402-10741T>A)
c.1828T>A (p.Phe610Ile)
c.2008T>A (p.Phe670Ile)
c.1675T>A (p.Phe559Ile)
7g.117592085T>CCA368978796CFTRc.1918T>C (p.Phe640Leu)
c.*1632T>C (n.*1632T>C)
c.1735T>C (p.Phe579Leu)
c.*218T>C (n.*218T>C)
c.*1742T>C (n.*1742T>C)
c.1492T>C (p.Phe498Leu)
c.1402-10741T>C (n.1402-10741T>C)
c.1828T>C (p.Phe610Leu)
c.2008T>C (p.Phe670Leu)
c.1675T>C (p.Phe559Leu)
7g.117592085T>GCA368978797CFTRc.1918T>G (p.Phe640Val)
c.*1632T>G (n.*1632T>G)
c.1735T>G (p.Phe579Val)
c.*218T>G (n.*218T>G)
c.*1742T>G (n.*1742T>G)
c.1492T>G (p.Phe498Val)
c.1402-10741T>G (n.1402-10741T>G)
c.1828T>G (p.Phe610Val)
c.2008T>G (p.Phe670Val)
c.1675T>G (p.Phe559Val)
7g.117592086_117592087delCA326717CFTRc.1919_1920del (p.Phe640Ter)
c.*1633_*1634del (n.*1633_*1634del)
c.1736_1737del (p.Phe579Ter)
c.*219_*220del (n.*219_*220del)
c.*1743_*1744del (n.*1743_*1744del)
c.1493_1494del (p.Phe498Ter)
c.1402-10740_1402-10739del (n.1402-10740_1402-10739del)
c.1829_1830del (p.Phe610Ter)
c.2009_2010del (p.Phe670Ter)
c.1676_1677del (p.Phe559Ter)
 ClinVar dbSNP
7g.117592086T>ACA368978800CFTRc.1919T>A (p.Phe640Tyr)
c.*1633T>A (n.*1633T>A)
c.1736T>A (p.Phe579Tyr)
c.*219T>A (n.*219T>A)
c.*1743T>A (n.*1743T>A)
c.1493T>A (p.Phe498Tyr)
c.1402-10740T>A (n.1402-10740T>A)
c.1829T>A (p.Phe610Tyr)
c.2009T>A (p.Phe670Tyr)
c.1676T>A (p.Phe559Tyr)
7g.117592086T>CCA368978802CFTRc.1919T>C (p.Phe640Ser)
c.*1633T>C (n.*1633T>C)
c.1736T>C (p.Phe579Ser)
c.*219T>C (n.*219T>C)
c.*1743T>C (n.*1743T>C)
c.1493T>C (p.Phe498Ser)
c.1402-10740T>C (n.1402-10740T>C)
c.1829T>C (p.Phe610Ser)
c.2009T>C (p.Phe670Ser)
c.1676T>C (p.Phe559Ser)
 gnomAD v4
7g.117592086T>GCA368978804CFTRc.1919T>G (p.Phe640Cys)
c.*1633T>G (n.*1633T>G)
c.1736T>G (p.Phe579Cys)
c.*219T>G (n.*219T>G)
c.*1743T>G (n.*1743T>G)
c.1493T>G (p.Phe498Cys)
c.1402-10740T>G (n.1402-10740T>G)
c.1829T>G (p.Phe610Cys)
c.2009T>G (p.Phe670Cys)
c.1676T>G (p.Phe559Cys)
 ClinVar
7g.117592086T=CA1737394180CFTRc.1919T= (p.Phe640=)
c.*1633T= (n.*1633T=)
c.1736T= (p.Phe579=)
c.*219T= (n.*219T=)
c.*1743T= (n.*1743T=)
c.1493T= (p.Phe498=)
c.1402-10740T= (n.1402-10740T=)
c.1829T= (p.Phe610=)
c.2009T= (p.Phe670=)
c.1676T= (p.Phe559=)
7g.117592087T>ACA368978806CFTRc.1920T>A (p.Phe640Leu)
c.*1634T>A (n.*1634T>A)
c.1737T>A (p.Phe579Leu)
c.*220T>A (n.*220T>A)
c.*1744T>A (n.*1744T>A)
c.1494T>A (p.Phe498Leu)
c.1402-10739T>A (n.1402-10739T>A)
c.1830T>A (p.Phe610Leu)
c.2010T>A (p.Phe670Leu)
c.1677T>A (p.Phe559Leu)
7g.117592087T>CCA4451112CFTRc.1920T>C (p.Phe640=)
c.*1634T>C (n.*1634T>C)
c.1737T>C (p.Phe579=)
c.*220T>C (n.*220T>C)
c.*1744T>C (n.*1744T>C)
c.1494T>C (p.Phe498=)
c.1402-10739T>C (n.1402-10739T>C)
c.1830T>C (p.Phe610=)
c.2010T>C (p.Phe670=)
c.1677T>C (p.Phe559=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592087T>GCA368978811CFTRc.1920T>G (p.Phe640Leu)
c.*1634T>G (n.*1634T>G)
c.1737T>G (p.Phe579Leu)
c.*220T>G (n.*220T>G)
c.*1744T>G (n.*1744T>G)
c.1494T>G (p.Phe498Leu)
c.1402-10739T>G (n.1402-10739T>G)
c.1830T>G (p.Phe610Leu)
c.2010T>G (p.Phe670Leu)
c.1677T>G (p.Phe559Leu)
 ClinVar
7g.117592087T=CA1737394184CFTRc.1920T= (p.Phe640=)
c.*1634T= (n.*1634T=)
c.1737T= (p.Phe579=)
c.*220T= (n.*220T=)
c.*1744T= (n.*1744T=)
c.1494T= (p.Phe498=)
c.1402-10739T= (n.1402-10739T=)
c.1830T= (p.Phe610=)
c.2010T= (p.Phe670=)
c.1677T= (p.Phe559=)
7g.117592087_117592088dupCA915945424CFTRc.1920_1921dup (p.Ser641IlefsTer23)
c.*1634_*1635dup (n.*1634_*1635dup)
c.1737_1738dup (p.Ser580IlefsTer23)
c.*220_*221dup (n.*220_*221dup)
c.*1744_*1745dup (n.*1744_*1745dup)
c.1494_1495dup (p.Ser499IlefsTer23)
c.1402-10739_1402-10738dup (n.1402-10739_1402-10738dup)
c.1830_1831dup (p.Ser611IlefsTer23)
c.2010_2011dup (p.Ser671IlefsTer23)
c.1677_1678dup (p.Ser560IlefsTer23)
 ClinVar dbSNP
7g.117592088A=CA1737394190CFTRc.1921A= (p.Ser641=)
c.*1635A= (n.*1635A=)
c.1738A= (p.Ser580=)
c.*221A= (n.*221A=)
c.*1745A= (n.*1745A=)
c.1495A= (p.Ser499=)
c.1402-10738A= (n.1402-10738A=)
c.1831A= (p.Ser611=)
c.2011A= (p.Ser671=)
c.1678A= (p.Ser560=)
7g.117592088A>CCA368978812CFTRc.1921A>C (p.Ser641Arg)
c.*1635A>C (n.*1635A>C)
c.1738A>C (p.Ser580Arg)
c.*221A>C (n.*221A>C)
c.*1745A>C (n.*1745A>C)
c.1495A>C (p.Ser499Arg)
c.1402-10738A>C (n.1402-10738A>C)
c.1831A>C (p.Ser611Arg)
c.2011A>C (p.Ser671Arg)
c.1678A>C (p.Ser560Arg)
 gnomAD v4
7g.117592088A>GCA4451113CFTRc.1921A>G (p.Ser641Gly)
c.*1635A>G (n.*1635A>G)
c.1738A>G (p.Ser580Gly)
c.*221A>G (n.*221A>G)
c.*1745A>G (n.*1745A>G)
c.1495A>G (p.Ser499Gly)
c.1402-10738A>G (n.1402-10738A>G)
c.1831A>G (p.Ser611Gly)
c.2011A>G (p.Ser671Gly)
c.1678A>G (p.Ser560Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592088A>TCA368978816CFTRc.1921A>T (p.Ser641Cys)
c.*1635A>T (n.*1635A>T)
c.1738A>T (p.Ser580Cys)
c.*221A>T (n.*221A>T)
c.*1745A>T (n.*1745A>T)
c.1495A>T (p.Ser499Cys)
c.1402-10738A>T (n.1402-10738A>T)
c.1831A>T (p.Ser611Cys)
c.2011A>T (p.Ser671Cys)
c.1678A>T (p.Ser560Cys)
7g.117592088_117592089insAGATATAAAAACATATAAATATCAATTTTATAAATACTTTATTCA2509043200CFTRc.1921_1922insAGATATAAAAACATATAAATATCAATTTTATAAATACTTTATT (p.Ser641LysfsTer3)
c.*1635_*1636insAGATATAAAAACATATAAATATCAATTTTATAAATACTTTATT (n.*1635_*1636insAGATATAAAAACATATAAATATCAATTTTATAAATACTTTATT)
c.1738_1739insAGATATAAAAACATATAAATATCAATTTTATAAATACTTTATT (p.Ser580LysfsTer3)
c.*221_*222insAGATATAAAAACATATAAATATCAATTTTATAAATACTTTATT (n.*221_*222insAGATATAAAAACATATAAATATCAATTTTATAAATACTTTATT)
c.*1745_*1746insAGATATAAAAACATATAAATATCAATTTTATAAATACTTTATT (n.*1745_*1746insAGATATAAAAACATATAAATATCAATTTTATAAATACTTTATT)
c.1495_1496insAGATATAAAAACATATAAATATCAATTTTATAAATACTTTATT (p.Ser499LysfsTer3)
c.1402-10738_1402-10737insAGATATAAAAACATATAAATATCAATTTTATAAATACTTTATT (n.1402-10738_1402-10737insAGATATAAAAACATATAAATATCAATTTTATAAATACTTTATT)
c.1831_1832insAGATATAAAAACATATAAATATCAATTTTATAAATACTTTATT (p.Ser611LysfsTer3)
c.2011_2012insAGATATAAAAACATATAAATATCAATTTTATAAATACTTTATT (p.Ser671LysfsTer3)
c.1678_1679insAGATATAAAAACATATAAATATCAATTTTATAAATACTTTATT (p.Ser560LysfsTer3)
7g.117592089G>ACA368978824CFTRc.1922G>A (p.Ser641Asn)
c.*1636G>A (n.*1636G>A)
c.1739G>A (p.Ser580Asn)
c.*222G>A (n.*222G>A)
c.*1746G>A (n.*1746G>A)
c.1496G>A (p.Ser499Asn)
c.1402-10737G>A (n.1402-10737G>A)
c.1832G>A (p.Ser611Asn)
c.2012G>A (p.Ser671Asn)
c.1679G>A (p.Ser560Asn)
7g.117592089G>CCA368978819CFTRc.1922G>C (p.Ser641Thr)
c.*1636G>C (n.*1636G>C)
c.1739G>C (p.Ser580Thr)
c.*222G>C (n.*222G>C)
c.*1746G>C (n.*1746G>C)
c.1496G>C (p.Ser499Thr)
c.1402-10737G>C (n.1402-10737G>C)
c.1832G>C (p.Ser611Thr)
c.2012G>C (p.Ser671Thr)
c.1679G>C (p.Ser560Thr)
7g.117592089G>TCA368978821CFTRc.1922G>T (p.Ser641Ile)
c.*1636G>T (n.*1636G>T)
c.1739G>T (p.Ser580Ile)
c.*222G>T (n.*222G>T)
c.*1746G>T (n.*1746G>T)
c.1496G>T (p.Ser499Ile)
c.1402-10737G>T (n.1402-10737G>T)
c.1832G>T (p.Ser611Ile)
c.2012G>T (p.Ser671Ile)
c.1679G>T (p.Ser560Ile)
7g.117592089_117592092delinsGCTCCA1737394196CFTRc.1922_1925delinsGCTC (p.Ser641=)
c.*1636_*1639delinsGCTC (n.*1636_*1639delinsGCTC)
c.1739_1742delinsGCTC (p.Ser580=)
c.*222_*225delinsGCTC (n.*222_*225delinsGCTC)
c.*1746_*1749delinsGCTC (n.*1746_*1749delinsGCTC)
c.1496_1499delinsGCTC (p.Ser499=)
c.1402-10737_1402-10734delinsGCTC (n.1402-10737_1402-10734delinsGCTC)
c.1832_1835delinsGCTC (p.Ser611=)
c.2012_2015delinsGCTC (p.Ser671=)
c.1679_1682delinsGCTC (p.Ser560=)
7g.117592089_117592097delinsGCTCAAAACCA1737394195CFTRc.1922_1930delinsGCTCAAAAC (p.Ser641=)
c.*1636_*1644delinsGCTCAAAAC (n.*1636_*1644delinsGCTCAAAAC)
c.1739_1747delinsGCTCAAAAC (p.Ser580=)
c.*222_*230delinsGCTCAAAAC (n.*222_*230delinsGCTCAAAAC)
c.*1746_*1754delinsGCTCAAAAC (n.*1746_*1754delinsGCTCAAAAC)
c.1496_1504delinsGCTCAAAAC (p.Ser499=)
c.1402-10737_1402-10729delinsGCTCAAAAC (n.1402-10737_1402-10729delinsGCTCAAAAC)
c.1832_1840delinsGCTCAAAAC (p.Ser611=)
c.2012_2020delinsGCTCAAAAC (p.Ser671=)
c.1679_1687delinsGCTCAAAAC (p.Ser560=)
7g.117592089_117592098delinsGCTCAAAACTCA1737394194CFTRc.1922_1931delinsGCTCAAAACT (p.Ser641=)
c.*1636_*1645delinsGCTCAAAACT (n.*1636_*1645delinsGCTCAAAACT)
c.1739_1748delinsGCTCAAAACT (p.Ser580=)
c.*222_*231delinsGCTCAAAACT (n.*222_*231delinsGCTCAAAACT)
c.*1746_*1755delinsGCTCAAAACT (n.*1746_*1755delinsGCTCAAAACT)
c.1496_1505delinsGCTCAAAACT (p.Ser499=)
c.1402-10737_1402-10728delinsGCTCAAAACT (n.1402-10737_1402-10728delinsGCTCAAAACT)
c.1832_1841delinsGCTCAAAACT (p.Ser611=)
c.2012_2021delinsGCTCAAAACT (p.Ser671=)
c.1679_1688delinsGCTCAAAACT (p.Ser560=)
7g.117592090C>ACA368978828CFTRc.1923C>A (p.Ser641Arg)
c.*1637C>A (n.*1637C>A)
c.1740C>A (p.Ser580Arg)
c.*223C>A (n.*223C>A)
c.*1747C>A (n.*1747C>A)
c.1497C>A (p.Ser499Arg)
c.1402-10736C>A (n.1402-10736C>A)
c.1833C>A (p.Ser611Arg)
c.2013C>A (p.Ser671Arg)
c.1680C>A (p.Ser560Arg)
 dbSNP
7g.117592090C>GCA368978831CFTRc.1923C>G (p.Ser641Arg)
c.*1637C>G (n.*1637C>G)
c.1740C>G (p.Ser580Arg)
c.*223C>G (n.*223C>G)
c.*1747C>G (n.*1747C>G)
c.1497C>G (p.Ser499Arg)
c.1402-10736C>G (n.1402-10736C>G)
c.1833C>G (p.Ser611Arg)
c.2013C>G (p.Ser671Arg)
c.1680C>G (p.Ser560Arg)
7g.117592090C>TCA457448890CFTRc.1923C>T (p.Ser641=)
c.*1637C>T (n.*1637C>T)
c.1740C>T (p.Ser580=)
c.*223C>T (n.*223C>T)
c.*1747C>T (n.*1747C>T)
c.1497C>T (p.Ser499=)
c.1402-10736C>T (n.1402-10736C>T)
c.1833C>T (p.Ser611=)
c.2013C>T (p.Ser671=)
c.1680C>T (p.Ser560=)
7g.117592090_117592092delCA577680760CFTRc.1923_1925del (p.Ser641_Ser642delinsArg)
c.*1637_*1639del (n.*1637_*1639del)
c.1740_1742del (p.Ser580_Ser581delinsArg)
c.*223_*225del (n.*223_*225del)
c.*1747_*1749del (n.*1747_*1749del)
c.1497_1499del (p.Ser499_Ser500delinsArg)
c.1402-10736_1402-10734del (n.1402-10736_1402-10734del)
c.1833_1835del (p.Ser611_Ser612delinsArg)
c.2013_2015del (p.Ser671_Ser672delinsArg)
c.1680_1682del (p.Ser560_Ser561delinsArg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117592090_117592097delCA832105371CFTRc.1923_1930del (p.Ser642HisfsTer4)
c.*1637_*1644del (n.*1637_*1644del)
c.1740_1747del (p.Ser581HisfsTer4)
c.*223_*230del (n.*223_*230del)
c.*1747_*1754del (n.*1747_*1754del)
c.1497_1504del (p.Ser500HisfsTer4)
c.1402-10736_1402-10729del (n.1402-10736_1402-10729del)
c.1833_1840del (p.Ser612HisfsTer4)
c.2013_2020del (p.Ser672HisfsTer4)
c.1680_1687del (p.Ser561HisfsTer4)
 dbSNP
7g.117592090_117592098delinsACA326718CFTRc.1923_1931delinsA (p.Ser641ArgfsTer5)
c.*1637_*1645delinsA (n.*1637_*1645delinsA)
c.1740_1748delinsA (p.Ser580ArgfsTer5)
c.*223_*231delinsA (n.*223_*231delinsA)
c.*1747_*1755delinsA (n.*1747_*1755delinsA)
c.1497_1505delinsA (p.Ser499ArgfsTer5)
c.1402-10736_1402-10728delinsA (n.1402-10736_1402-10728delinsA)
c.1833_1841delinsA (p.Ser611ArgfsTer5)
c.2013_2021delinsA (p.Ser671ArgfsTer5)
c.1680_1688delinsA (p.Ser560ArgfsTer5)
 ClinVar dbSNP
7g.117592091_117592099delCA2695208505CFTRc.1924_1932del (p.Ser642_Leu644del)
c.*1638_*1646del (n.*1638_*1646del)
c.1741_1749del (p.Ser581_Leu583del)
c.*224_*232del (n.*224_*232del)
c.*1748_*1756del (n.*1748_*1756del)
c.1498_1506del (p.Ser500_Leu502del)
c.1402-10735_1402-10727del (n.1402-10735_1402-10727del)
c.1834_1842del (p.Ser612_Leu614del)
c.2014_2022del (p.Ser672_Leu674del)
c.1681_1689del (p.Ser561_Leu563del)
7g.117592091T>ACA368978833CFTRc.1924T>A (p.Ser642Thr)
c.*1638T>A (n.*1638T>A)
c.1741T>A (p.Ser581Thr)
c.*224T>A (n.*224T>A)
c.*1748T>A (n.*1748T>A)
c.1498T>A (p.Ser500Thr)
c.1402-10735T>A (n.1402-10735T>A)
c.1834T>A (p.Ser612Thr)
c.2014T>A (p.Ser672Thr)
c.1681T>A (p.Ser561Thr)
7g.117592091T>CCA164947599CFTRc.1924T>C (p.Ser642Pro)
c.*1638T>C (n.*1638T>C)
c.1741T>C (p.Ser581Pro)
c.*224T>C (n.*224T>C)
c.*1748T>C (n.*1748T>C)
c.1498T>C (p.Ser500Pro)
c.1402-10735T>C (n.1402-10735T>C)
c.1834T>C (p.Ser612Pro)
c.2014T>C (p.Ser672Pro)
c.1681T>C (p.Ser561Pro)
 dbSNP gnomAD v4
7g.117592091T>GCA368978835CFTRc.1924T>G (p.Ser642Ala)
c.*1638T>G (n.*1638T>G)
c.1741T>G (p.Ser581Ala)
c.*224T>G (n.*224T>G)
c.*1748T>G (n.*1748T>G)
c.1498T>G (p.Ser500Ala)
c.1402-10735T>G (n.1402-10735T>G)
c.1834T>G (p.Ser612Ala)
c.2014T>G (p.Ser672Ala)
c.1681T>G (p.Ser561Ala)
7g.117592091T=CA1737394206CFTRc.1924T= (p.Ser642=)
c.*1638T= (n.*1638T=)
c.1741T= (p.Ser581=)
c.*224T= (n.*224T=)
c.*1748T= (n.*1748T=)
c.1498T= (p.Ser500=)
c.1402-10735T= (n.1402-10735T=)
c.1834T= (p.Ser612=)
c.2014T= (p.Ser672=)
c.1681T= (p.Ser561=)
7g.117592091_117592098delCA2582341949CFTRc.1924_1931del (p.Ser642HisfsTer4)
c.*1638_*1645del (n.*1638_*1645del)
c.1741_1748del (p.Ser581HisfsTer4)
c.*224_*231del (n.*224_*231del)
c.*1748_*1755del (n.*1748_*1755del)
c.1498_1505del (p.Ser500HisfsTer4)
c.1402-10735_1402-10728del (n.1402-10735_1402-10728del)
c.1834_1841del (p.Ser612HisfsTer4)
c.2014_2021del (p.Ser672HisfsTer4)
c.1681_1688del (p.Ser561HisfsTer4)
 ClinVar
7g.117592092C>ACA368978837CFTRc.1925C>A (p.Ser642Ter)
c.*1639C>A (n.*1639C>A)
c.1742C>A (p.Ser581Ter)
c.*225C>A (n.*225C>A)
c.*1749C>A (n.*1749C>A)
c.1499C>A (p.Ser500Ter)
c.1402-10734C>A (n.1402-10734C>A)
c.1835C>A (p.Ser612Ter)
c.2015C>A (p.Ser672Ter)
c.1682C>A (p.Ser561Ter)
7g.117592092C>GCA368978839CFTRc.1925C>G (p.Ser642Ter)
c.*1639C>G (n.*1639C>G)
c.1742C>G (p.Ser581Ter)
c.*225C>G (n.*225C>G)
c.*1749C>G (n.*1749C>G)
c.1499C>G (p.Ser500Ter)
c.1402-10734C>G (n.1402-10734C>G)
c.1835C>G (p.Ser612Ter)
c.2015C>G (p.Ser672Ter)
c.1682C>G (p.Ser561Ter)
7g.117592092C>TCA368978841CFTRc.1925C>T (p.Ser642Leu)
c.*1639C>T (n.*1639C>T)
c.1742C>T (p.Ser581Leu)
c.*225C>T (n.*225C>T)
c.*1749C>T (n.*1749C>T)
c.1499C>T (p.Ser500Leu)
c.1402-10734C>T (n.1402-10734C>T)
c.1835C>T (p.Ser612Leu)
c.2015C>T (p.Ser672Leu)
c.1682C>T (p.Ser561Leu)
7g.117592093A=CA1737394208CFTRc.1926A= (p.Ser642=)
c.*1640A= (n.*1640A=)
c.1743A= (p.Ser581=)
c.*226A= (n.*226A=)
c.*1750A= (n.*1750A=)
c.1500A= (p.Ser500=)
c.1402-10733A= (n.1402-10733A=)
c.1836A= (p.Ser612=)
c.2016A= (p.Ser672=)
c.1683A= (p.Ser561=)
7g.117592093A>CCA457448891CFTRc.1926A>C (p.Ser642=)
c.*1640A>C (n.*1640A>C)
c.1743A>C (p.Ser581=)
c.*226A>C (n.*226A>C)
c.*1750A>C (n.*1750A>C)
c.1500A>C (p.Ser500=)
c.1402-10733A>C (n.1402-10733A>C)
c.1836A>C (p.Ser612=)
c.2016A>C (p.Ser672=)
c.1683A>C (p.Ser561=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117592093A>GCA457448892CFTRc.1926A>G (p.Ser642=)
c.*1640A>G (n.*1640A>G)
c.1743A>G (p.Ser581=)
c.*226A>G (n.*226A>G)
c.*1750A>G (n.*1750A>G)
c.1500A>G (p.Ser500=)
c.1402-10733A>G (n.1402-10733A>G)
c.1836A>G (p.Ser612=)
c.2016A>G (p.Ser672=)
c.1683A>G (p.Ser561=)
7g.117592093A>TCA457448893CFTRc.1926A>T (p.Ser642=)
c.*1640A>T (n.*1640A>T)
c.1743A>T (p.Ser581=)
c.*226A>T (n.*226A>T)
c.*1750A>T (n.*1750A>T)
c.1500A>T (p.Ser500=)
c.1402-10733A>T (n.1402-10733A>T)
c.1836A>T (p.Ser612=)
c.2016A>T (p.Ser672=)
c.1683A>T (p.Ser561=)
7g.117592093_117592098delinsAAAACTCA1737394210CFTRc.1926_1931delinsAAAACT (p.Ser642=)
c.*1640_*1645delinsAAAACT (n.*1640_*1645delinsAAAACT)
c.1743_1748delinsAAAACT (p.Ser581=)
c.*226_*231delinsAAAACT (n.*226_*231delinsAAAACT)
c.*1750_*1755delinsAAAACT (n.*1750_*1755delinsAAAACT)
c.1500_1505delinsAAAACT (p.Ser500=)
c.1402-10733_1402-10728delinsAAAACT (n.1402-10733_1402-10728delinsAAAACT)
c.1836_1841delinsAAAACT (p.Ser612=)
c.2016_2021delinsAAAACT (p.Ser672=)
c.1683_1688delinsAAAACT (p.Ser561=)
7g.117592094A>CCA368978844CFTRc.1927A>C (p.Lys643Gln)
c.*1641A>C (n.*1641A>C)
c.1744A>C (p.Lys582Gln)
c.*227A>C (n.*227A>C)
c.*1751A>C (n.*1751A>C)
c.1501A>C (p.Lys501Gln)
c.1402-10732A>C (n.1402-10732A>C)
c.1837A>C (p.Lys613Gln)
c.2017A>C (p.Lys673Gln)
c.1684A>C (p.Lys562Gln)
 ClinVar
7g.117592094A>GCA368978846CFTRc.1927A>G (p.Lys643Glu)
c.*1641A>G (n.*1641A>G)
c.1744A>G (p.Lys582Glu)
c.*227A>G (n.*227A>G)
c.*1751A>G (n.*1751A>G)
c.1501A>G (p.Lys501Glu)
c.1402-10732A>G (n.1402-10732A>G)
c.1837A>G (p.Lys613Glu)
c.2017A>G (p.Lys673Glu)
c.1684A>G (p.Lys562Glu)
 gnomAD v4
7g.117592094A>TCA368978848CFTRc.1927A>T (p.Lys643Ter)
c.*1641A>T (n.*1641A>T)
c.1744A>T (p.Lys582Ter)
c.*227A>T (n.*227A>T)
c.*1751A>T (n.*1751A>T)
c.1501A>T (p.Lys501Ter)
c.1402-10732A>T (n.1402-10732A>T)
c.1837A>T (p.Lys613Ter)
c.2017A>T (p.Lys673Ter)
c.1684A>T (p.Lys562Ter)
7g.117592094_117592098delCA577680761CFTRc.1927_1931del (p.Lys643HisfsTer4)
c.*1641_*1645del (n.*1641_*1645del)
c.1744_1748del (p.Lys582HisfsTer4)
c.*227_*231del (n.*227_*231del)
c.*1751_*1755del (n.*1751_*1755del)
c.1501_1505del (p.Lys501HisfsTer4)
c.1402-10732_1402-10728del (n.1402-10732_1402-10728del)
c.1837_1841del (p.Lys613HisfsTer4)
c.2017_2021del (p.Lys673HisfsTer4)
c.1684_1688del (p.Lys562HisfsTer4)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117592095A=CA1737394215CFTRc.1928A= (p.Lys643=)
c.*1642A= (n.*1642A=)
c.1745A= (p.Lys582=)
c.*228A= (n.*228A=)
c.*1752A= (n.*1752A=)
c.1502A= (p.Lys501=)
c.1402-10731A= (n.1402-10731A=)
c.1838A= (p.Lys613=)
c.2018A= (p.Lys673=)
c.1685A= (p.Lys562=)
7g.117592095A>CCA368978851CFTRc.1928A>C (p.Lys643Thr)
c.*1642A>C (n.*1642A>C)
c.1745A>C (p.Lys582Thr)
c.*228A>C (n.*228A>C)
c.*1752A>C (n.*1752A>C)
c.1502A>C (p.Lys501Thr)
c.1402-10731A>C (n.1402-10731A>C)
c.1838A>C (p.Lys613Thr)
c.2018A>C (p.Lys673Thr)
c.1685A>C (p.Lys562Thr)
7g.117592095A>GCA368978853CFTRc.1928A>G (p.Lys643Arg)
c.*1642A>G (n.*1642A>G)
c.1745A>G (p.Lys582Arg)
c.*228A>G (n.*228A>G)
c.*1752A>G (n.*1752A>G)
c.1502A>G (p.Lys501Arg)
c.1402-10731A>G (n.1402-10731A>G)
c.1838A>G (p.Lys613Arg)
c.2018A>G (p.Lys673Arg)
c.1685A>G (p.Lys562Arg)
 ClinVar dbSNP
7g.117592095A>TCA368978855CFTRc.1928A>T (p.Lys643Ile)
c.*1642A>T (n.*1642A>T)
c.1745A>T (p.Lys582Ile)
c.*228A>T (n.*228A>T)
c.*1752A>T (n.*1752A>T)
c.1502A>T (p.Lys501Ile)
c.1402-10731A>T (n.1402-10731A>T)
c.1838A>T (p.Lys613Ile)
c.2018A>T (p.Lys673Ile)
c.1685A>T (p.Lys562Ile)
7g.117592096A=CA1737394218CFTRc.1929A= (p.Lys643=)
c.*1643A= (n.*1643A=)
c.1746A= (p.Lys582=)
c.*229A= (n.*229A=)
c.*1753A= (n.*1753A=)
c.1503A= (p.Lys501=)
c.1402-10730A= (n.1402-10730A=)
c.1839A= (p.Lys613=)
c.2019A= (p.Lys673=)
c.1686A= (p.Lys562=)
7g.117592096A>CCA368978857CFTRc.1929A>C (p.Lys643Asn)
c.*1643A>C (n.*1643A>C)
c.1746A>C (p.Lys582Asn)
c.*229A>C (n.*229A>C)
c.*1753A>C (n.*1753A>C)
c.1503A>C (p.Lys501Asn)
c.1402-10730A>C (n.1402-10730A>C)
c.1839A>C (p.Lys613Asn)
c.2019A>C (p.Lys673Asn)
c.1686A>C (p.Lys562Asn)
7g.117592096A>GCA457448894CFTRc.1929A>G (p.Lys643=)
c.*1643A>G (n.*1643A>G)
c.1746A>G (p.Lys582=)
c.*229A>G (n.*229A>G)
c.*1753A>G (n.*1753A>G)
c.1503A>G (p.Lys501=)
c.1402-10730A>G (n.1402-10730A>G)
c.1839A>G (p.Lys613=)
c.2019A>G (p.Lys673=)
c.1686A>G (p.Lys562=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117592096A>TCA368978858CFTRc.1929A>T (p.Lys643Asn)
c.*1643A>T (n.*1643A>T)
c.1746A>T (p.Lys582Asn)
c.*229A>T (n.*229A>T)
c.*1753A>T (n.*1753A>T)
c.1503A>T (p.Lys501Asn)
c.1402-10730A>T (n.1402-10730A>T)
c.1839A>T (p.Lys613Asn)
c.2019A>T (p.Lys673Asn)
c.1686A>T (p.Lys562Asn)
 dbSNP
7g.117592097C>ACA368978861CFTRc.1930C>A (p.Leu644Ile)
c.*1644C>A (n.*1644C>A)
c.1747C>A (p.Leu583Ile)
c.*230C>A (n.*230C>A)
c.*1754C>A (n.*1754C>A)
c.1504C>A (p.Leu502Ile)
c.1402-10729C>A (n.1402-10729C>A)
c.1840C>A (p.Leu614Ile)
c.2020C>A (p.Leu674Ile)
c.1687C>A (p.Leu563Ile)
7g.117592097C>GCA368978863CFTRc.1930C>G (p.Leu644Val)
c.*1644C>G (n.*1644C>G)
c.1747C>G (p.Leu583Val)
c.*230C>G (n.*230C>G)
c.*1754C>G (n.*1754C>G)
c.1504C>G (p.Leu502Val)
c.1402-10729C>G (n.1402-10729C>G)
c.1840C>G (p.Leu614Val)
c.2020C>G (p.Leu674Val)
c.1687C>G (p.Leu563Val)
7g.117592097C>TCA368978865CFTRc.1930C>T (p.Leu644Phe)
c.*1644C>T (n.*1644C>T)
c.1747C>T (p.Leu583Phe)
c.*230C>T (n.*230C>T)
c.*1754C>T (n.*1754C>T)
c.1504C>T (p.Leu502Phe)
c.1402-10729C>T (n.1402-10729C>T)
c.1840C>T (p.Leu614Phe)
c.2020C>T (p.Leu674Phe)
c.1687C>T (p.Leu563Phe)
7g.117592098T>ACA164947601CFTRc.1931T>A (p.Leu644His)
c.*1645T>A (n.*1645T>A)
c.1748T>A (p.Leu583His)
c.*231T>A (n.*231T>A)
c.*1755T>A (n.*1755T>A)
c.1505T>A (p.Leu502His)
c.1402-10728T>A (n.1402-10728T>A)
c.1841T>A (p.Leu614His)
c.2021T>A (p.Leu674His)
c.1688T>A (p.Leu563His)
 dbSNP
7g.117592098T>CCA368978867CFTRc.1931T>C (p.Leu644Pro)
c.*1645T>C (n.*1645T>C)
c.1748T>C (p.Leu583Pro)
c.*231T>C (n.*231T>C)
c.*1755T>C (n.*1755T>C)
c.1505T>C (p.Leu502Pro)
c.1402-10728T>C (n.1402-10728T>C)
c.1841T>C (p.Leu614Pro)
c.2021T>C (p.Leu674Pro)
c.1688T>C (p.Leu563Pro)
 COSMIC
7g.117592098T>GCA368978868CFTRc.1931T>G (p.Leu644Arg)
c.*1645T>G (n.*1645T>G)
c.1748T>G (p.Leu583Arg)
c.*231T>G (n.*231T>G)
c.*1755T>G (n.*1755T>G)
c.1505T>G (p.Leu502Arg)
c.1402-10728T>G (n.1402-10728T>G)
c.1841T>G (p.Leu614Arg)
c.2021T>G (p.Leu674Arg)
c.1688T>G (p.Leu563Arg)
7g.117592098T=CA1737394222CFTRc.1931T= (p.Leu644=)
c.*1645T= (n.*1645T=)
c.1748T= (p.Leu583=)
c.*231T= (n.*231T=)
c.*1755T= (n.*1755T=)
c.1505T= (p.Leu502=)
c.1402-10728T= (n.1402-10728T=)
c.1841T= (p.Leu614=)
c.2021T= (p.Leu674=)
c.1688T= (p.Leu563=)
7g.117592099C>ACA457448895CFTRc.1932C>A (p.Leu644=)
c.*1646C>A (n.*1646C>A)
c.1749C>A (p.Leu583=)
c.*232C>A (n.*232C>A)
c.*1756C>A (n.*1756C>A)
c.1506C>A (p.Leu502=)
c.1402-10727C>A (n.1402-10727C>A)
c.1842C>A (p.Leu614=)
c.2022C>A (p.Leu674=)
c.1689C>A (p.Leu563=)
7g.117592099C=CA1737394230CFTRc.1932C= (p.Leu644=)
c.*1646C= (n.*1646C=)
c.1749C= (p.Leu583=)
c.*232C= (n.*232C=)
c.*1756C= (n.*1756C=)
c.1506C= (p.Leu502=)
c.1402-10727C= (n.1402-10727C=)
c.1842C= (p.Leu614=)
c.2022C= (p.Leu674=)
c.1689C= (p.Leu563=)
7g.117592099C>GCA4451114CFTRc.1932C>G (p.Leu644=)
c.*1646C>G (n.*1646C>G)
c.1749C>G (p.Leu583=)
c.*232C>G (n.*232C>G)
c.*1756C>G (n.*1756C>G)
c.1506C>G (p.Leu502=)
c.1402-10727C>G (n.1402-10727C>G)
c.1842C>G (p.Leu614=)
c.2022C>G (p.Leu674=)
c.1689C>G (p.Leu563=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592099C>TCA457448896CFTRc.1932C>T (p.Leu644=)
c.*1646C>T (n.*1646C>T)
c.1749C>T (p.Leu583=)
c.*232C>T (n.*232C>T)
c.*1756C>T (n.*1756C>T)
c.1506C>T (p.Leu502=)
c.1402-10727C>T (n.1402-10727C>T)
c.1842C>T (p.Leu614=)
c.2022C>T (p.Leu674=)
c.1689C>T (p.Leu563=)
 ClinVar dbSNP COSMIC
7g.117592100A=CA1737394240CFTRc.1933A= (p.Met645=)
c.*1647A= (n.*1647A=)
c.1750A= (p.Met584=)
c.*233A= (n.*233A=)
c.*1757A= (n.*1757A=)
c.1507A= (p.Met503=)
c.1402-10726A= (n.1402-10726A=)
c.1843A= (p.Met615=)
c.2023A= (p.Met675=)
c.1690A= (p.Met564=)
7g.117592100A>CCA368978869CFTRc.1933A>C (p.Met645Leu)
c.*1647A>C (n.*1647A>C)
c.1750A>C (p.Met584Leu)
c.*233A>C (n.*233A>C)
c.*1757A>C (n.*1757A>C)
c.1507A>C (p.Met503Leu)
c.1402-10726A>C (n.1402-10726A>C)
c.1843A>C (p.Met615Leu)
c.2023A>C (p.Met675Leu)
c.1690A>C (p.Met564Leu)
 gnomAD v4
7g.117592100A>GCA368978870CFTRc.1933A>G (p.Met645Val)
c.*1647A>G (n.*1647A>G)
c.1750A>G (p.Met584Val)
c.*233A>G (n.*233A>G)
c.*1757A>G (n.*1757A>G)
c.1507A>G (p.Met503Val)
c.1402-10726A>G (n.1402-10726A>G)
c.1843A>G (p.Met615Val)
c.2023A>G (p.Met675Val)
c.1690A>G (p.Met564Val)
 dbSNP
7g.117592100A>TCA368978874CFTRc.1933A>T (p.Met645Leu)
c.*1647A>T (n.*1647A>T)
c.1750A>T (p.Met584Leu)
c.*233A>T (n.*233A>T)
c.*1757A>T (n.*1757A>T)
c.1507A>T (p.Met503Leu)
c.1402-10726A>T (n.1402-10726A>T)
c.1843A>T (p.Met615Leu)
c.2023A>T (p.Met675Leu)
c.1690A>T (p.Met564Leu)
7g.117592101T>ACA4451116CFTRc.1934T>A (p.Met645Lys)
c.*1648T>A (n.*1648T>A)
c.1751T>A (p.Met584Lys)
c.*234T>A (n.*234T>A)
c.*1758T>A (n.*1758T>A)
c.1508T>A (p.Met503Lys)
c.1402-10725T>A (n.1402-10725T>A)
c.1844T>A (p.Met615Lys)
c.2024T>A (p.Met675Lys)
c.1691T>A (p.Met564Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592101T>CCA4451115CFTRc.1934T>C (p.Met645Thr)
c.*1648T>C (n.*1648T>C)
c.1751T>C (p.Met584Thr)
c.*234T>C (n.*234T>C)
c.*1758T>C (n.*1758T>C)
c.1508T>C (p.Met503Thr)
c.1402-10725T>C (n.1402-10725T>C)
c.1844T>C (p.Met615Thr)
c.2024T>C (p.Met675Thr)
c.1691T>C (p.Met564Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592101T>GCA368978877CFTRc.1934T>G (p.Met645Arg)
c.*1648T>G (n.*1648T>G)
c.1751T>G (p.Met584Arg)
c.*234T>G (n.*234T>G)
c.*1758T>G (n.*1758T>G)
c.1508T>G (p.Met503Arg)
c.1402-10725T>G (n.1402-10725T>G)
c.1844T>G (p.Met615Arg)
c.2024T>G (p.Met675Arg)
c.1691T>G (p.Met564Arg)
7g.117592101T=CA1737394250CFTRc.1934T= (p.Met645=)
c.*1648T= (n.*1648T=)
c.1751T= (p.Met584=)
c.*234T= (n.*234T=)
c.*1758T= (n.*1758T=)
c.1508T= (p.Met503=)
c.1402-10725T= (n.1402-10725T=)
c.1844T= (p.Met615=)
c.2024T= (p.Met675=)
c.1691T= (p.Met564=)
7g.117592102G>ACA368978881CFTRc.1935G>A (p.Met645Ile)
c.*1649G>A (n.*1649G>A)
c.1752G>A (p.Met584Ile)
c.*235G>A (n.*235G>A)
c.*1759G>A (n.*1759G>A)
c.1509G>A (p.Met503Ile)
c.1402-10724G>A (n.1402-10724G>A)
c.1845G>A (p.Met615Ile)
c.2025G>A (p.Met675Ile)
c.1692G>A (p.Met564Ile)
 ClinVar
7g.117592102G>CCA368978886CFTRc.1935G>C (p.Met645Ile)
c.*1649G>C (n.*1649G>C)
c.1752G>C (p.Met584Ile)
c.*235G>C (n.*235G>C)
c.*1759G>C (n.*1759G>C)
c.1509G>C (p.Met503Ile)
c.1402-10724G>C (n.1402-10724G>C)
c.1845G>C (p.Met615Ile)
c.2025G>C (p.Met675Ile)
c.1692G>C (p.Met564Ile)
7g.117592102G>TCA368978883CFTRc.1935G>T (p.Met645Ile)
c.*1649G>T (n.*1649G>T)
c.1752G>T (p.Met584Ile)
c.*235G>T (n.*235G>T)
c.*1759G>T (n.*1759G>T)
c.1509G>T (p.Met503Ile)
c.1402-10724G>T (n.1402-10724G>T)
c.1845G>T (p.Met615Ile)
c.2025G>T (p.Met675Ile)
c.1692G>T (p.Met564Ile)
7g.117592104delCA2580076508CFTRc.1937del (p.Gly646AspfsTer17)
c.*1651del (n.*1651del)
c.1754del (p.Gly585AspfsTer17)
c.*237del (n.*237del)
c.*1761del (n.*1761del)
c.1511del (p.Gly504AspfsTer17)
c.1402-10722del (n.1402-10722del)
c.1847del (p.Gly616AspfsTer17)
c.2027del (p.Gly676AspfsTer17)
c.1694del (p.Gly565AspfsTer17)
 ClinVar
7g.117592103G>ACA368978889CFTRc.1936G>A (p.Gly646Arg)
c.*1650G>A (n.*1650G>A)
c.1753G>A (p.Gly585Arg)
c.*236G>A (n.*236G>A)
c.*1760G>A (n.*1760G>A)
c.1510G>A (p.Gly504Arg)
c.1402-10723G>A (n.1402-10723G>A)
c.1846G>A (p.Gly616Arg)
c.2026G>A (p.Gly676Arg)
c.1693G>A (p.Gly565Arg)
 ClinVar dbSNP gnomAD v4
7g.117592103G>CCA368978890CFTRc.1936G>C (p.Gly646Arg)
c.*1650G>C (n.*1650G>C)
c.1753G>C (p.Gly585Arg)
c.*236G>C (n.*236G>C)
c.*1760G>C (n.*1760G>C)
c.1510G>C (p.Gly504Arg)
c.1402-10723G>C (n.1402-10723G>C)
c.1846G>C (p.Gly616Arg)
c.2026G>C (p.Gly676Arg)
c.1693G>C (p.Gly565Arg)
7g.117592103G=CA1737394263CFTRc.1936G= (p.Gly646=)
c.*1650G= (n.*1650G=)
c.1753G= (p.Gly585=)
c.*236G= (n.*236G=)
c.*1760G= (n.*1760G=)
c.1510G= (p.Gly504=)
c.1402-10723G= (n.1402-10723G=)
c.1846G= (p.Gly616=)
c.2026G= (p.Gly676=)
c.1693G= (p.Gly565=)
7g.117592103G>TCA368978891CFTRc.1936G>T (p.Gly646Ter)
c.*1650G>T (n.*1650G>T)
c.1753G>T (p.Gly585Ter)
c.*236G>T (n.*236G>T)
c.*1760G>T (n.*1760G>T)
c.1510G>T (p.Gly504Ter)
c.1402-10723G>T (n.1402-10723G>T)
c.1846G>T (p.Gly616Ter)
c.2026G>T (p.Gly676Ter)
c.1693G>T (p.Gly565Ter)
 ClinVar dbSNP
7g.117592104G>ACA368978894CFTRc.1937G>A (p.Gly646Glu)
c.*1651G>A (n.*1651G>A)
c.1754G>A (p.Gly585Glu)
c.*237G>A (n.*237G>A)
c.*1761G>A (n.*1761G>A)
c.1511G>A (p.Gly504Glu)
c.1402-10722G>A (n.1402-10722G>A)
c.1847G>A (p.Gly616Glu)
c.2027G>A (p.Gly676Glu)
c.1694G>A (p.Gly565Glu)
7g.117592104G>CCA368978896CFTRc.1937G>C (p.Gly646Ala)
c.*1651G>C (n.*1651G>C)
c.1754G>C (p.Gly585Ala)
c.*237G>C (n.*237G>C)
c.*1761G>C (n.*1761G>C)
c.1511G>C (p.Gly504Ala)
c.1402-10722G>C (n.1402-10722G>C)
c.1847G>C (p.Gly616Ala)
c.2027G>C (p.Gly676Ala)
c.1694G>C (p.Gly565Ala)
7g.117592104G>TCA368978898CFTRc.1937G>T (p.Gly646Val)
c.*1651G>T (n.*1651G>T)
c.1754G>T (p.Gly585Val)
c.*237G>T (n.*237G>T)
c.*1761G>T (n.*1761G>T)
c.1511G>T (p.Gly504Val)
c.1402-10722G>T (n.1402-10722G>T)
c.1847G>T (p.Gly616Val)
c.2027G>T (p.Gly676Val)
c.1694G>T (p.Gly565Val)
7g.117592105A=CA1737394268CFTRc.1938A= (p.Gly646=)
c.*1652A= (n.*1652A=)
c.1755A= (p.Gly585=)
c.*238A= (n.*238A=)
c.*1762A= (n.*1762A=)
c.1512A= (p.Gly504=)
c.1402-10721A= (n.1402-10721A=)
c.1848A= (p.Gly616=)
c.2028A= (p.Gly676=)
c.1695A= (p.Gly565=)
7g.117592105A>CCA457448897CFTRc.1938A>C (p.Gly646=)
c.*1652A>C (n.*1652A>C)
c.1755A>C (p.Gly585=)
c.*238A>C (n.*238A>C)
c.*1762A>C (n.*1762A>C)
c.1512A>C (p.Gly504=)
c.1402-10721A>C (n.1402-10721A>C)
c.1848A>C (p.Gly616=)
c.2028A>C (p.Gly676=)
c.1695A>C (p.Gly565=)
7g.117592105A>GCA457448898CFTRc.1938A>G (p.Gly646=)
c.*1652A>G (n.*1652A>G)
c.1755A>G (p.Gly585=)
c.*238A>G (n.*238A>G)
c.*1762A>G (n.*1762A>G)
c.1512A>G (p.Gly504=)
c.1402-10721A>G (n.1402-10721A>G)
c.1848A>G (p.Gly616=)
c.2028A>G (p.Gly676=)
c.1695A>G (p.Gly565=)
 ClinVar
7g.117592105A>TCA164947607CFTRc.1938A>T (p.Gly646=)
c.*1652A>T (n.*1652A>T)
c.1755A>T (p.Gly585=)
c.*238A>T (n.*238A>T)
c.*1762A>T (n.*1762A>T)
c.1512A>T (p.Gly504=)
c.1402-10721A>T (n.1402-10721A>T)
c.1848A>T (p.Gly616=)
c.2028A>T (p.Gly676=)
c.1695A>T (p.Gly565=)
 dbSNP gnomAD v4
7g.117592106T>ACA368978906CFTRc.1939T>A (p.Cys647Ser)
c.*1653T>A (n.*1653T>A)
c.1756T>A (p.Cys586Ser)
c.*239T>A (n.*239T>A)
c.*1763T>A (n.*1763T>A)
c.1513T>A (p.Cys505Ser)
c.1402-10720T>A (n.1402-10720T>A)
c.1849T>A (p.Cys617Ser)
c.2029T>A (p.Cys677Ser)
c.1696T>A (p.Cys566Ser)
 ClinVar
7g.117592106T>CCA368978903CFTRc.1939T>C (p.Cys647Arg)
c.*1653T>C (n.*1653T>C)
c.1756T>C (p.Cys586Arg)
c.*239T>C (n.*239T>C)
c.*1763T>C (n.*1763T>C)
c.1513T>C (p.Cys505Arg)
c.1402-10720T>C (n.1402-10720T>C)
c.1849T>C (p.Cys617Arg)
c.2029T>C (p.Cys677Arg)
c.1696T>C (p.Cys566Arg)
7g.117592106T>GCA368978905CFTRc.1939T>G (p.Cys647Gly)
c.*1653T>G (n.*1653T>G)
c.1756T>G (p.Cys586Gly)
c.*239T>G (n.*239T>G)
c.*1763T>G (n.*1763T>G)
c.1513T>G (p.Cys505Gly)
c.1402-10720T>G (n.1402-10720T>G)
c.1849T>G (p.Cys617Gly)
c.2029T>G (p.Cys677Gly)
c.1696T>G (p.Cys566Gly)
7g.117592107G>ACA368978909CFTRc.1940G>A (p.Cys647Tyr)
c.*1654G>A (n.*1654G>A)
c.1757G>A (p.Cys586Tyr)
c.*240G>A (n.*240G>A)
c.*1764G>A (n.*1764G>A)
c.1514G>A (p.Cys505Tyr)
c.1402-10719G>A (n.1402-10719G>A)
c.1850G>A (p.Cys617Tyr)
c.2030G>A (p.Cys677Tyr)
c.1697G>A (p.Cys566Tyr)
 gnomAD v4
7g.117592107G>CCA368978910CFTRc.1940G>C (p.Cys647Ser)
c.*1654G>C (n.*1654G>C)
c.1757G>C (p.Cys586Ser)
c.*240G>C (n.*240G>C)
c.*1764G>C (n.*1764G>C)
c.1514G>C (p.Cys505Ser)
c.1402-10719G>C (n.1402-10719G>C)
c.1850G>C (p.Cys617Ser)
c.2030G>C (p.Cys677Ser)
c.1697G>C (p.Cys566Ser)
7g.117592107G>TCA368978912CFTRc.1940G>T (p.Cys647Phe)
c.*1654G>T (n.*1654G>T)
c.1757G>T (p.Cys586Phe)
c.*240G>T (n.*240G>T)
c.*1764G>T (n.*1764G>T)
c.1514G>T (p.Cys505Phe)
c.1402-10719G>T (n.1402-10719G>T)
c.1850G>T (p.Cys617Phe)
c.2030G>T (p.Cys677Phe)
c.1697G>T (p.Cys566Phe)
7g.117592108T>ACA368978914CFTRc.1941T>A (p.Cys647Ter)
c.*1655T>A (n.*1655T>A)
c.1758T>A (p.Cys586Ter)
c.*241T>A (n.*241T>A)
c.*1765T>A (n.*1765T>A)
c.1515T>A (p.Cys505Ter)
c.1402-10718T>A (n.1402-10718T>A)
c.1851T>A (p.Cys617Ter)
c.2031T>A (p.Cys677Ter)
c.1698T>A (p.Cys566Ter)
 ClinVar
7g.117592108T>CCA457448899CFTRc.1941T>C (p.Cys647=)
c.*1655T>C (n.*1655T>C)
c.1758T>C (p.Cys586=)
c.*241T>C (n.*241T>C)
c.*1765T>C (n.*1765T>C)
c.1515T>C (p.Cys505=)
c.1402-10718T>C (n.1402-10718T>C)
c.1851T>C (p.Cys617=)
c.2031T>C (p.Cys677=)
c.1698T>C (p.Cys566=)
 ClinVar
7g.117592108T>GCA368978916CFTRc.1941T>G (p.Cys647Trp)
c.*1655T>G (n.*1655T>G)
c.1758T>G (p.Cys586Trp)
c.*241T>G (n.*241T>G)
c.*1765T>G (n.*1765T>G)
c.1515T>G (p.Cys505Trp)
c.1402-10718T>G (n.1402-10718T>G)
c.1851T>G (p.Cys617Trp)
c.2031T>G (p.Cys677Trp)
c.1698T>G (p.Cys566Trp)
7g.117592109G>ACA4451117CFTRc.1942G>A (p.Asp648Asn)
c.*1656G>A (n.*1656G>A)
c.1759G>A (p.Asp587Asn)
c.*242G>A (n.*242G>A)
c.*1766G>A (n.*1766G>A)
c.1516G>A (p.Asp506Asn)
c.1402-10717G>A (n.1402-10717G>A)
c.1852G>A (p.Asp618Asn)
c.2032G>A (p.Asp678Asn)
c.1699G>A (p.Asp567Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
7g.117592109G>CCA368978922CFTRc.1942G>C (p.Asp648His)
c.*1656G>C (n.*1656G>C)
c.1759G>C (p.Asp587His)
c.*242G>C (n.*242G>C)
c.*1766G>C (n.*1766G>C)
c.1516G>C (p.Asp506His)
c.1402-10717G>C (n.1402-10717G>C)
c.1852G>C (p.Asp618His)
c.2032G>C (p.Asp678His)
c.1699G>C (p.Asp567His)
7g.117592109G=CA1737394273CFTRc.1942G= (p.Asp648=)
c.*1656G= (n.*1656G=)
c.1759G= (p.Asp587=)
c.*242G= (n.*242G=)
c.*1766G= (n.*1766G=)
c.1516G= (p.Asp506=)
c.1402-10717G= (n.1402-10717G=)
c.1852G= (p.Asp618=)
c.2032G= (p.Asp678=)
c.1699G= (p.Asp567=)
7g.117592109G>TCA368978921CFTRc.1942G>T (p.Asp648Tyr)
c.*1656G>T (n.*1656G>T)
c.1759G>T (p.Asp587Tyr)
c.*242G>T (n.*242G>T)
c.*1766G>T (n.*1766G>T)
c.1516G>T (p.Asp506Tyr)
c.1402-10717G>T (n.1402-10717G>T)
c.1852G>T (p.Asp618Tyr)
c.2032G>T (p.Asp678Tyr)
c.1699G>T (p.Asp567Tyr)
7g.117592109_117592110delinsGACA1737394274CFTRc.1942_1943delinsGA (p.Asp648=)
c.*1656_*1657delinsGA (n.*1656_*1657delinsGA)
c.1759_1760delinsGA (p.Asp587=)
c.*242_*243delinsGA (n.*242_*243delinsGA)
c.*1766_*1767delinsGA (n.*1766_*1767delinsGA)
c.1516_1517delinsGA (p.Asp506=)
c.1402-10717_1402-10716delinsGA (n.1402-10717_1402-10716delinsGA)
c.1852_1853delinsGA (p.Asp618=)
c.2032_2033delinsGA (p.Asp678=)
c.1699_1700delinsGA (p.Asp567=)
7g.117592110delCA832105444CFTRc.1943del (p.Asp648ValfsTer15)
c.*1657del (n.*1657del)
c.1760del (p.Asp587ValfsTer15)
c.*243del (n.*243del)
c.*1767del (n.*1767del)
c.1517del (p.Asp506ValfsTer15)
c.1402-10716del (n.1402-10716del)
c.1853del (p.Asp618ValfsTer15)
c.2033del (p.Asp678ValfsTer15)
c.1700del (p.Asp567ValfsTer15)
 ClinVar dbSNP
7g.117592110A=CA1737394283CFTRc.1943A= (p.Asp648=)
c.*1657A= (n.*1657A=)
c.1760A= (p.Asp587=)
c.*243A= (n.*243A=)
c.*1767A= (n.*1767A=)
c.1517A= (p.Asp506=)
c.1402-10716A= (n.1402-10716A=)
c.1853A= (p.Asp618=)
c.2033A= (p.Asp678=)
c.1700A= (p.Asp567=)
7g.117592110A>CCA368978924CFTRc.1943A>C (p.Asp648Ala)
c.*1657A>C (n.*1657A>C)
c.1760A>C (p.Asp587Ala)
c.*243A>C (n.*243A>C)
c.*1767A>C (n.*1767A>C)
c.1517A>C (p.Asp506Ala)
c.1402-10716A>C (n.1402-10716A>C)
c.1853A>C (p.Asp618Ala)
c.2033A>C (p.Asp678Ala)
c.1700A>C (p.Asp567Ala)
7g.117592110A>GCA368978926CFTRc.1943A>G (p.Asp648Gly)
c.*1657A>G (n.*1657A>G)
c.1760A>G (p.Asp587Gly)
c.*243A>G (n.*243A>G)
c.*1767A>G (n.*1767A>G)
c.1517A>G (p.Asp506Gly)
c.1402-10716A>G (n.1402-10716A>G)
c.1853A>G (p.Asp618Gly)
c.2033A>G (p.Asp678Gly)
c.1700A>G (p.Asp567Gly)
 dbSNP
7g.117592110A>TCA325587CFTRc.1943A>T (p.Asp648Val)
c.*1657A>T (n.*1657A>T)
c.1760A>T (p.Asp587Val)
c.*243A>T (n.*243A>T)
c.*1767A>T (n.*1767A>T)
c.1517A>T (p.Asp506Val)
c.1402-10716A>T (n.1402-10716A>T)
c.1853A>T (p.Asp618Val)
c.2033A>T (p.Asp678Val)
c.1700A>T (p.Asp567Val)
 ClinVar dbSNP
7g.117592111T>ACA368978934CFTRc.1944T>A (p.Asp648Glu)
c.*1658T>A (n.*1658T>A)
c.1761T>A (p.Asp587Glu)
c.*244T>A (n.*244T>A)
c.*1768T>A (n.*1768T>A)
c.1518T>A (p.Asp506Glu)
c.1402-10715T>A (n.1402-10715T>A)
c.1854T>A (p.Asp618Glu)
c.2034T>A (p.Asp678Glu)
c.1701T>A (p.Asp567Glu)
7g.117592111T>CCA457448900CFTRc.1944T>C (p.Asp648=)
c.*1658T>C (n.*1658T>C)
c.1761T>C (p.Asp587=)
c.*244T>C (n.*244T>C)
c.*1768T>C (n.*1768T>C)
c.1518T>C (p.Asp506=)
c.1402-10715T>C (n.1402-10715T>C)
c.1854T>C (p.Asp618=)
c.2034T>C (p.Asp678=)
c.1701T>C (p.Asp567=)
7g.117592111T>GCA368978936CFTRc.1944T>G (p.Asp648Glu)
c.*1658T>G (n.*1658T>G)
c.1761T>G (p.Asp587Glu)
c.*244T>G (n.*244T>G)
c.*1768T>G (n.*1768T>G)
c.1518T>G (p.Asp506Glu)
c.1402-10715T>G (n.1402-10715T>G)
c.1854T>G (p.Asp618Glu)
c.2034T>G (p.Asp678Glu)
c.1701T>G (p.Asp567Glu)
7g.117592112T>ACA368978938CFTRc.1945T>A (p.Ser649Thr)
c.*1659T>A (n.*1659T>A)
c.1762T>A (p.Ser588Thr)
c.*245T>A (n.*245T>A)
c.*1769T>A (n.*1769T>A)
c.1519T>A (p.Ser507Thr)
c.1402-10714T>A (n.1402-10714T>A)
c.1855T>A (p.Ser619Thr)
c.2035T>A (p.Ser679Thr)
c.1702T>A (p.Ser568Thr)
7g.117592112T>CCA368978940CFTRc.1945T>C (p.Ser649Pro)
c.*1659T>C (n.*1659T>C)
c.1762T>C (p.Ser588Pro)
c.*245T>C (n.*245T>C)
c.*1769T>C (n.*1769T>C)
c.1519T>C (p.Ser507Pro)
c.1402-10714T>C (n.1402-10714T>C)
c.1855T>C (p.Ser619Pro)
c.2035T>C (p.Ser679Pro)
c.1702T>C (p.Ser568Pro)
7g.117592112T>GCA368978941CFTRc.1945T>G (p.Ser649Ala)
c.*1659T>G (n.*1659T>G)
c.1762T>G (p.Ser588Ala)
c.*245T>G (n.*245T>G)
c.*1769T>G (n.*1769T>G)
c.1519T>G (p.Ser507Ala)
c.1402-10714T>G (n.1402-10714T>G)
c.1855T>G (p.Ser619Ala)
c.2035T>G (p.Ser679Ala)
c.1702T>G (p.Ser568Ala)
7g.117592113C>ACA368978943CFTRc.1946C>A (p.Ser649Tyr)
c.*1660C>A (n.*1660C>A)
c.1763C>A (p.Ser588Tyr)
c.*246C>A (n.*246C>A)
c.*1770C>A (n.*1770C>A)
c.1520C>A (p.Ser507Tyr)
c.1402-10713C>A (n.1402-10713C>A)
c.1856C>A (p.Ser619Tyr)
c.2036C>A (p.Ser679Tyr)
c.1703C>A (p.Ser568Tyr)
7g.117592113C>GCA368978945CFTRc.1946C>G (p.Ser649Cys)
c.*1660C>G (n.*1660C>G)
c.1763C>G (p.Ser588Cys)
c.*246C>G (n.*246C>G)
c.*1770C>G (n.*1770C>G)
c.1520C>G (p.Ser507Cys)
c.1402-10713C>G (n.1402-10713C>G)
c.1856C>G (p.Ser619Cys)
c.2036C>G (p.Ser679Cys)
c.1703C>G (p.Ser568Cys)
7g.117592113C>TCA368978947CFTRc.1946C>T (p.Ser649Phe)
c.*1660C>T (n.*1660C>T)
c.1763C>T (p.Ser588Phe)
c.*246C>T (n.*246C>T)
c.*1770C>T (n.*1770C>T)
c.1520C>T (p.Ser507Phe)
c.1402-10713C>T (n.1402-10713C>T)
c.1856C>T (p.Ser619Phe)
c.2036C>T (p.Ser679Phe)
c.1703C>T (p.Ser568Phe)
7g.117592114T>ACA457448901CFTRc.1947T>A (p.Ser649=)
c.*1661T>A (n.*1661T>A)
c.1764T>A (p.Ser588=)
c.*247T>A (n.*247T>A)
c.*1771T>A (n.*1771T>A)
c.1521T>A (p.Ser507=)
c.1402-10712T>A (n.1402-10712T>A)
c.1857T>A (p.Ser619=)
c.2037T>A (p.Ser679=)
c.1704T>A (p.Ser568=)
7g.117592114T>CCA4451118CFTRc.1947T>C (p.Ser649=)
c.*1661T>C (n.*1661T>C)
c.1764T>C (p.Ser588=)
c.*247T>C (n.*247T>C)
c.*1771T>C (n.*1771T>C)
c.1521T>C (p.Ser507=)
c.1402-10712T>C (n.1402-10712T>C)
c.1857T>C (p.Ser619=)
c.2037T>C (p.Ser679=)
c.1704T>C (p.Ser568=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592114T>GCA457448902CFTRc.1947T>G (p.Ser649=)
c.*1661T>G (n.*1661T>G)
c.1764T>G (p.Ser588=)
c.*247T>G (n.*247T>G)
c.*1771T>G (n.*1771T>G)
c.1521T>G (p.Ser507=)
c.1402-10712T>G (n.1402-10712T>G)
c.1857T>G (p.Ser619=)
c.2037T>G (p.Ser679=)
c.1704T>G (p.Ser568=)
7g.117592114T=CA1737394288CFTRc.1947T= (p.Ser649=)
c.*1661T= (n.*1661T=)
c.1764T= (p.Ser588=)
c.*247T= (n.*247T=)
c.*1771T= (n.*1771T=)
c.1521T= (p.Ser507=)
c.1402-10712T= (n.1402-10712T=)
c.1857T= (p.Ser619=)
c.2037T= (p.Ser679=)
c.1704T= (p.Ser568=)
7g.117592116delCA2580076509CFTRc.1949del (p.Phe650SerfsTer13)
c.*1663del (n.*1663del)
c.1766del (p.Phe589SerfsTer13)
c.*249del (n.*249del)
c.*1773del (n.*1773del)
c.1523del (p.Phe508SerfsTer13)
c.1402-10710del (n.1402-10710del)
c.1859del (p.Phe620SerfsTer13)
c.2039del (p.Phe680SerfsTer13)
c.1706del (p.Phe569SerfsTer13)
 ClinVar
7g.117592115T>ACA368978951CFTRc.1948T>A (p.Phe650Ile)
c.*1662T>A (n.*1662T>A)
c.1765T>A (p.Phe589Ile)
c.*248T>A (n.*248T>A)
c.*1772T>A (n.*1772T>A)
c.1522T>A (p.Phe508Ile)
c.1402-10711T>A (n.1402-10711T>A)
c.1858T>A (p.Phe620Ile)
c.2038T>A (p.Phe680Ile)
c.1705T>A (p.Phe569Ile)
7g.117592115T>CCA368978954CFTRc.1948T>C (p.Phe650Leu)
c.*1662T>C (n.*1662T>C)
c.1765T>C (p.Phe589Leu)
c.*248T>C (n.*248T>C)
c.*1772T>C (n.*1772T>C)
c.1522T>C (p.Phe508Leu)
c.1402-10711T>C (n.1402-10711T>C)
c.1858T>C (p.Phe620Leu)
c.2038T>C (p.Phe680Leu)
c.1705T>C (p.Phe569Leu)
7g.117592115T>GCA368978952CFTRc.1948T>G (p.Phe650Val)
c.*1662T>G (n.*1662T>G)
c.1765T>G (p.Phe589Val)
c.*248T>G (n.*248T>G)
c.*1772T>G (n.*1772T>G)
c.1522T>G (p.Phe508Val)
c.1402-10711T>G (n.1402-10711T>G)
c.1858T>G (p.Phe620Val)
c.2038T>G (p.Phe680Val)
c.1705T>G (p.Phe569Val)
7g.117592116T>ACA368978959CFTRc.1949T>A (p.Phe650Tyr)
c.*1663T>A (n.*1663T>A)
c.1766T>A (p.Phe589Tyr)
c.*249T>A (n.*249T>A)
c.*1773T>A (n.*1773T>A)
c.1523T>A (p.Phe508Tyr)
c.1402-10710T>A (n.1402-10710T>A)
c.1859T>A (p.Phe620Tyr)
c.2039T>A (p.Phe680Tyr)
c.1706T>A (p.Phe569Tyr)
7g.117592116T>CCA368978960CFTRc.1949T>C (p.Phe650Ser)
c.*1663T>C (n.*1663T>C)
c.1766T>C (p.Phe589Ser)
c.*249T>C (n.*249T>C)
c.*1773T>C (n.*1773T>C)
c.1523T>C (p.Phe508Ser)
c.1402-10710T>C (n.1402-10710T>C)
c.1859T>C (p.Phe620Ser)
c.2039T>C (p.Phe680Ser)
c.1706T>C (p.Phe569Ser)
 dbSNP gnomAD v4
7g.117592116T>GCA368978963CFTRc.1949T>G (p.Phe650Cys)
c.*1663T>G (n.*1663T>G)
c.1766T>G (p.Phe589Cys)
c.*249T>G (n.*249T>G)
c.*1773T>G (n.*1773T>G)
c.1523T>G (p.Phe508Cys)
c.1402-10710T>G (n.1402-10710T>G)
c.1859T>G (p.Phe620Cys)
c.2039T>G (p.Phe680Cys)
c.1706T>G (p.Phe569Cys)
7g.117592116T=CA1737394290CFTRc.1949T= (p.Phe650=)
c.*1663T= (n.*1663T=)
c.1766T= (p.Phe589=)
c.*249T= (n.*249T=)
c.*1773T= (n.*1773T=)
c.1523T= (p.Phe508=)
c.1402-10710T= (n.1402-10710T=)
c.1859T= (p.Phe620=)
c.2039T= (p.Phe680=)
c.1706T= (p.Phe569=)
7g.117592117C>ACA4451120CFTRc.1950C>A (p.Phe650Leu)
c.*1664C>A (n.*1664C>A)
c.1767C>A (p.Phe589Leu)
c.*250C>A (n.*250C>A)
c.*1774C>A (n.*1774C>A)
c.1524C>A (p.Phe508Leu)
c.1402-10709C>A (n.1402-10709C>A)
c.1860C>A (p.Phe620Leu)
c.2040C>A (p.Phe680Leu)
c.1707C>A (p.Phe569Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592117C=CA1737394298CFTRc.1950C= (p.Phe650=)
c.*1664C= (n.*1664C=)
c.1767C= (p.Phe589=)
c.*250C= (n.*250C=)
c.*1774C= (n.*1774C=)
c.1524C= (p.Phe508=)
c.1402-10709C= (n.1402-10709C=)
c.1860C= (p.Phe620=)
c.2040C= (p.Phe680=)
c.1707C= (p.Phe569=)
7g.117592117C>GCA368978968CFTRc.1950C>G (p.Phe650Leu)
c.*1664C>G (n.*1664C>G)
c.1767C>G (p.Phe589Leu)
c.*250C>G (n.*250C>G)
c.*1774C>G (n.*1774C>G)
c.1524C>G (p.Phe508Leu)
c.1402-10709C>G (n.1402-10709C>G)
c.1860C>G (p.Phe620Leu)
c.2040C>G (p.Phe680Leu)
c.1707C>G (p.Phe569Leu)
7g.117592117C>TCA4451119CFTRc.1950C>T (p.Phe650=)
c.*1664C>T (n.*1664C>T)
c.1767C>T (p.Phe589=)
c.*250C>T (n.*250C>T)
c.*1774C>T (n.*1774C>T)
c.1524C>T (p.Phe508=)
c.1402-10709C>T (n.1402-10709C>T)
c.1860C>T (p.Phe620=)
c.2040C>T (p.Phe680=)
c.1707C>T (p.Phe569=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.117592118G>ACA4451121CFTRc.1951G>A (p.Asp651Asn)
c.*1665G>A (n.*1665G>A)
c.1768G>A (p.Asp590Asn)
c.*251G>A (n.*251G>A)
c.*1775G>A (n.*1775G>A)
c.1525G>A (p.Asp509Asn)
c.1402-10708G>A (n.1402-10708G>A)
c.1861G>A (p.Asp621Asn)
c.2041G>A (p.Asp681Asn)
c.1708G>A (p.Asp570Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592118G>CCA368978971CFTRc.1951G>C (p.Asp651His)
c.*1665G>C (n.*1665G>C)
c.1768G>C (p.Asp590His)
c.*251G>C (n.*251G>C)
c.*1775G>C (n.*1775G>C)
c.1525G>C (p.Asp509His)
c.1402-10708G>C (n.1402-10708G>C)
c.1861G>C (p.Asp621His)
c.2041G>C (p.Asp681His)
c.1708G>C (p.Asp570His)
 ClinVar
7g.117592118G=CA1737394302CFTRc.1951G= (p.Asp651=)
c.*1665G= (n.*1665G=)
c.1768G= (p.Asp590=)
c.*251G= (n.*251G=)
c.*1775G= (n.*1775G=)
c.1525G= (p.Asp509=)
c.1402-10708G= (n.1402-10708G=)
c.1861G= (p.Asp621=)
c.2041G= (p.Asp681=)
c.1708G= (p.Asp570=)
7g.117592118G>TCA368978972CFTRc.1951G>T (p.Asp651Tyr)
c.*1665G>T (n.*1665G>T)
c.1768G>T (p.Asp590Tyr)
c.*251G>T (n.*251G>T)
c.*1775G>T (n.*1775G>T)
c.1525G>T (p.Asp509Tyr)
c.1402-10708G>T (n.1402-10708G>T)
c.1861G>T (p.Asp621Tyr)
c.2041G>T (p.Asp681Tyr)
c.1708G>T (p.Asp570Tyr)
7g.117592119A>CCA368978975CFTRc.1952A>C (p.Asp651Ala)
c.*1666A>C (n.*1666A>C)
c.1769A>C (p.Asp590Ala)
c.*252A>C (n.*252A>C)
c.*1776A>C (n.*1776A>C)
c.1526A>C (p.Asp509Ala)
c.1402-10707A>C (n.1402-10707A>C)
c.1862A>C (p.Asp621Ala)
c.2042A>C (p.Asp681Ala)
c.1709A>C (p.Asp570Ala)
7g.117592119A>GCA368978977CFTRc.1952A>G (p.Asp651Gly)
c.*1666A>G (n.*1666A>G)
c.1769A>G (p.Asp590Gly)
c.*252A>G (n.*252A>G)
c.*1776A>G (n.*1776A>G)
c.1526A>G (p.Asp509Gly)
c.1402-10707A>G (n.1402-10707A>G)
c.1862A>G (p.Asp621Gly)
c.2042A>G (p.Asp681Gly)
c.1709A>G (p.Asp570Gly)
7g.117592119A>TCA368978978CFTRc.1952A>T (p.Asp651Val)
c.*1666A>T (n.*1666A>T)
c.1769A>T (p.Asp590Val)
c.*252A>T (n.*252A>T)
c.*1776A>T (n.*1776A>T)
c.1526A>T (p.Asp509Val)
c.1402-10707A>T (n.1402-10707A>T)
c.1862A>T (p.Asp621Val)
c.2042A>T (p.Asp681Val)
c.1709A>T (p.Asp570Val)
7g.117592120C>ACA368978981CFTRc.1953C>A (p.Asp651Glu)
c.*1667C>A (n.*1667C>A)
c.1770C>A (p.Asp590Glu)
c.*253C>A (n.*253C>A)
c.*1777C>A (n.*1777C>A)
c.1527C>A (p.Asp509Glu)
c.1402-10706C>A (n.1402-10706C>A)
c.1863C>A (p.Asp621Glu)
c.2043C>A (p.Asp681Glu)
c.1710C>A (p.Asp570Glu)
7g.117592120C>GCA368978983CFTRc.1953C>G (p.Asp651Glu)
c.*1667C>G (n.*1667C>G)
c.1770C>G (p.Asp590Glu)
c.*253C>G (n.*253C>G)
c.*1777C>G (n.*1777C>G)
c.1527C>G (p.Asp509Glu)
c.1402-10706C>G (n.1402-10706C>G)
c.1863C>G (p.Asp621Glu)
c.2043C>G (p.Asp681Glu)
c.1710C>G (p.Asp570Glu)
7g.117592120C>TCA457448903CFTRc.1953C>T (p.Asp651=)
c.*1667C>T (n.*1667C>T)
c.1770C>T (p.Asp590=)
c.*253C>T (n.*253C>T)
c.*1777C>T (n.*1777C>T)
c.1527C>T (p.Asp509=)
c.1402-10706C>T (n.1402-10706C>T)
c.1863C>T (p.Asp621=)
c.2043C>T (p.Asp681=)
c.1710C>T (p.Asp570=)
 ClinVar gnomAD v4
7g.117592121C>ACA4451122CFTRc.1954C>A (p.Gln652Lys)
c.*1668C>A (n.*1668C>A)
c.1771C>A (p.Gln591Lys)
c.*254C>A (n.*254C>A)
c.*1778C>A (n.*1778C>A)
c.1528C>A (p.Gln510Lys)
c.1402-10705C>A (n.1402-10705C>A)
c.1864C>A (p.Gln622Lys)
c.2044C>A (p.Gln682Lys)
c.1711C>A (p.Gln571Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592121C=CA1737394308CFTRc.1954C= (p.Gln652=)
c.*1668C= (n.*1668C=)
c.1771C= (p.Gln591=)
c.*254C= (n.*254C=)
c.*1778C= (n.*1778C=)
c.1528C= (p.Gln510=)
c.1402-10705C= (n.1402-10705C=)
c.1864C= (p.Gln622=)
c.2044C= (p.Gln682=)
c.1711C= (p.Gln571=)
7g.117592121C>GCA4451123CFTRc.1954C>G (p.Gln652Glu)
c.*1668C>G (n.*1668C>G)
c.1771C>G (p.Gln591Glu)
c.*254C>G (n.*254C>G)
c.*1778C>G (n.*1778C>G)
c.1528C>G (p.Gln510Glu)
c.1402-10705C>G (n.1402-10705C>G)
c.1864C>G (p.Gln622Glu)
c.2044C>G (p.Gln682Glu)
c.1711C>G (p.Gln571Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592121C>TCA368978987CFTRc.1954C>T (p.Gln652Ter)
c.*1668C>T (n.*1668C>T)
c.1771C>T (p.Gln591Ter)
c.*254C>T (n.*254C>T)
c.*1778C>T (n.*1778C>T)
c.1528C>T (p.Gln510Ter)
c.1402-10705C>T (n.1402-10705C>T)
c.1864C>T (p.Gln622Ter)
c.2044C>T (p.Gln682Ter)
c.1711C>T (p.Gln571Ter)
7g.117592122A>CCA368978988CFTRc.1955A>C (p.Gln652Pro)
c.*1669A>C (n.*1669A>C)
c.1772A>C (p.Gln591Pro)
c.*255A>C (n.*255A>C)
c.*1779A>C (n.*1779A>C)
c.1529A>C (p.Gln510Pro)
c.1402-10704A>C (n.1402-10704A>C)
c.1865A>C (p.Gln622Pro)
c.2045A>C (p.Gln682Pro)
c.1712A>C (p.Gln571Pro)
 ClinVar gnomAD v4
7g.117592122A>GCA368978989CFTRc.1955A>G (p.Gln652Arg)
c.*1669A>G (n.*1669A>G)
c.1772A>G (p.Gln591Arg)
c.*255A>G (n.*255A>G)
c.*1779A>G (n.*1779A>G)
c.1529A>G (p.Gln510Arg)
c.1402-10704A>G (n.1402-10704A>G)
c.1865A>G (p.Gln622Arg)
c.2045A>G (p.Gln682Arg)
c.1712A>G (p.Gln571Arg)
7g.117592122A>TCA368978990CFTRc.1955A>T (p.Gln652Leu)
c.*1669A>T (n.*1669A>T)
c.1772A>T (p.Gln591Leu)
c.*255A>T (n.*255A>T)
c.*1779A>T (n.*1779A>T)
c.1529A>T (p.Gln510Leu)
c.1402-10704A>T (n.1402-10704A>T)
c.1865A>T (p.Gln622Leu)
c.2045A>T (p.Gln682Leu)
c.1712A>T (p.Gln571Leu)
7g.117592123A>CCA368978991CFTRc.1956A>C (p.Gln652His)
c.*1670A>C (n.*1670A>C)
c.1773A>C (p.Gln591His)
c.*256A>C (n.*256A>C)
c.*1780A>C (n.*1780A>C)
c.1530A>C (p.Gln510His)
c.1402-10703A>C (n.1402-10703A>C)
c.1866A>C (p.Gln622His)
c.2046A>C (p.Gln682His)
c.1713A>C (p.Gln571His)
7g.117592123A>GCA457448904CFTRc.1956A>G (p.Gln652=)
c.*1670A>G (n.*1670A>G)
c.1773A>G (p.Gln591=)
c.*256A>G (n.*256A>G)
c.*1780A>G (n.*1780A>G)
c.1530A>G (p.Gln510=)
c.1402-10703A>G (n.1402-10703A>G)
c.1866A>G (p.Gln622=)
c.2046A>G (p.Gln682=)
c.1713A>G (p.Gln571=)
7g.117592123A>TCA368978993CFTRc.1956A>T (p.Gln652His)
c.*1670A>T (n.*1670A>T)
c.1773A>T (p.Gln591His)
c.*256A>T (n.*256A>T)
c.*1780A>T (n.*1780A>T)
c.1530A>T (p.Gln510His)
c.1402-10703A>T (n.1402-10703A>T)
c.1866A>T (p.Gln622His)
c.2046A>T (p.Gln682His)
c.1713A>T (p.Gln571His)
7g.117592124T>ACA368978994CFTRc.1957T>A (p.Phe653Ile)
c.*1671T>A (n.*1671T>A)
c.1774T>A (p.Phe592Ile)
c.*257T>A (n.*257T>A)
c.*1781T>A (n.*1781T>A)
c.1531T>A (p.Phe511Ile)
c.1402-10702T>A (n.1402-10702T>A)
c.1867T>A (p.Phe623Ile)
c.2047T>A (p.Phe683Ile)
c.1714T>A (p.Phe572Ile)
7g.117592124T>CCA368978996CFTRc.1957T>C (p.Phe653Leu)
c.*1671T>C (n.*1671T>C)
c.1774T>C (p.Phe592Leu)
c.*257T>C (n.*257T>C)
c.*1781T>C (n.*1781T>C)
c.1531T>C (p.Phe511Leu)
c.1402-10702T>C (n.1402-10702T>C)
c.1867T>C (p.Phe623Leu)
c.2047T>C (p.Phe683Leu)
c.1714T>C (p.Phe572Leu)
7g.117592124T>GCA368978998CFTRc.1957T>G (p.Phe653Val)
c.*1671T>G (n.*1671T>G)
c.1774T>G (p.Phe592Val)
c.*257T>G (n.*257T>G)
c.*1781T>G (n.*1781T>G)
c.1531T>G (p.Phe511Val)
c.1402-10702T>G (n.1402-10702T>G)
c.1867T>G (p.Phe623Val)
c.2047T>G (p.Phe683Val)
c.1714T>G (p.Phe572Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117592124T=CA1737394313CFTRc.1957T= (p.Phe653=)
c.*1671T= (n.*1671T=)
c.1774T= (p.Phe592=)
c.*257T= (n.*257T=)
c.*1781T= (n.*1781T=)
c.1531T= (p.Phe511=)
c.1402-10702T= (n.1402-10702T=)
c.1867T= (p.Phe623=)
c.2047T= (p.Phe683=)
c.1714T= (p.Phe572=)
7g.117592125T>ACA368979002CFTRc.1958T>A (p.Phe653Tyr)
c.*1672T>A (n.*1672T>A)
c.1775T>A (p.Phe592Tyr)
c.*258T>A (n.*258T>A)
c.*1782T>A (n.*1782T>A)
c.1532T>A (p.Phe511Tyr)
c.1402-10701T>A (n.1402-10701T>A)
c.1868T>A (p.Phe623Tyr)
c.2048T>A (p.Phe683Tyr)
c.1715T>A (p.Phe572Tyr)
7g.117592125T>CCA368979004CFTRc.1958T>C (p.Phe653Ser)
c.*1672T>C (n.*1672T>C)
c.1775T>C (p.Phe592Ser)
c.*258T>C (n.*258T>C)
c.*1782T>C (n.*1782T>C)
c.1532T>C (p.Phe511Ser)
c.1402-10701T>C (n.1402-10701T>C)
c.1868T>C (p.Phe623Ser)
c.2048T>C (p.Phe683Ser)
c.1715T>C (p.Phe572Ser)
7g.117592125T>GCA368979005CFTRc.1958T>G (p.Phe653Cys)
c.*1672T>G (n.*1672T>G)
c.1775T>G (p.Phe592Cys)
c.*258T>G (n.*258T>G)
c.*1782T>G (n.*1782T>G)
c.1532T>G (p.Phe511Cys)
c.1402-10701T>G (n.1402-10701T>G)
c.1868T>G (p.Phe623Cys)
c.2048T>G (p.Phe683Cys)
c.1715T>G (p.Phe572Cys)
7g.117592126T>ACA368979006CFTRc.1959T>A (p.Phe653Leu)
c.*1673T>A (n.*1673T>A)
c.1776T>A (p.Phe592Leu)
c.*259T>A (n.*259T>A)
c.*1783T>A (n.*1783T>A)
c.1533T>A (p.Phe511Leu)
c.1402-10700T>A (n.1402-10700T>A)
c.1869T>A (p.Phe623Leu)
c.2049T>A (p.Phe683Leu)
c.1716T>A (p.Phe572Leu)
7g.117592126T>CCA457448905CFTRc.1959T>C (p.Phe653=)
c.*1673T>C (n.*1673T>C)
c.1776T>C (p.Phe592=)
c.*259T>C (n.*259T>C)
c.*1783T>C (n.*1783T>C)
c.1533T>C (p.Phe511=)
c.1402-10700T>C (n.1402-10700T>C)
c.1869T>C (p.Phe623=)
c.2049T>C (p.Phe683=)
c.1716T>C (p.Phe572=)
7g.117592126T>GCA368979007CFTRc.1959T>G (p.Phe653Leu)
c.*1673T>G (n.*1673T>G)
c.1776T>G (p.Phe592Leu)
c.*259T>G (n.*259T>G)
c.*1783T>G (n.*1783T>G)
c.1533T>G (p.Phe511Leu)
c.1402-10700T>G (n.1402-10700T>G)
c.1869T>G (p.Phe623Leu)
c.2049T>G (p.Phe683Leu)
c.1716T>G (p.Phe572Leu)
7g.117592127A=CA1737394315CFTRc.1960A= (p.Ser654=)
c.*1674A= (n.*1674A=)
c.1777A= (p.Ser593=)
c.*260A= (n.*260A=)
c.*1784A= (n.*1784A=)
c.1534A= (p.Ser512=)
c.1402-10699A= (n.1402-10699A=)
c.1870A= (p.Ser624=)
c.2050A= (p.Ser684=)
c.1717A= (p.Ser573=)
7g.117592127A>CCA368979008CFTRc.1960A>C (p.Ser654Arg)
c.*1674A>C (n.*1674A>C)
c.1777A>C (p.Ser593Arg)
c.*260A>C (n.*260A>C)
c.*1784A>C (n.*1784A>C)
c.1534A>C (p.Ser512Arg)
c.1402-10699A>C (n.1402-10699A>C)
c.1870A>C (p.Ser624Arg)
c.2050A>C (p.Ser684Arg)
c.1717A>C (p.Ser573Arg)
7g.117592127A>GCA164947637CFTRc.1960A>G (p.Ser654Gly)
c.*1674A>G (n.*1674A>G)
c.1777A>G (p.Ser593Gly)
c.*260A>G (n.*260A>G)
c.*1784A>G (n.*1784A>G)
c.1534A>G (p.Ser512Gly)
c.1402-10699A>G (n.1402-10699A>G)
c.1870A>G (p.Ser624Gly)
c.2050A>G (p.Ser684Gly)
c.1717A>G (p.Ser573Gly)
 dbSNP gnomAD v2 gnomAD v4
7g.117592127A>TCA368979009CFTRc.1960A>T (p.Ser654Cys)
c.*1674A>T (n.*1674A>T)
c.1777A>T (p.Ser593Cys)
c.*260A>T (n.*260A>T)
c.*1784A>T (n.*1784A>T)
c.1534A>T (p.Ser512Cys)
c.1402-10699A>T (n.1402-10699A>T)
c.1870A>T (p.Ser624Cys)
c.2050A>T (p.Ser684Cys)
c.1717A>T (p.Ser573Cys)
 ClinVar dbSNP
7g.117592128G>ACA368979010CFTRc.1961G>A (p.Ser654Asn)
c.*1675G>A (n.*1675G>A)
c.1778G>A (p.Ser593Asn)
c.*261G>A (n.*261G>A)
c.*1785G>A (n.*1785G>A)
c.1535G>A (p.Ser512Asn)
c.1402-10698G>A (n.1402-10698G>A)
c.1871G>A (p.Ser624Asn)
c.2051G>A (p.Ser684Asn)
c.1718G>A (p.Ser573Asn)
7g.117592128G>CCA368979013CFTRc.1961G>C (p.Ser654Thr)
c.*1675G>C (n.*1675G>C)
c.1778G>C (p.Ser593Thr)
c.*261G>C (n.*261G>C)
c.*1785G>C (n.*1785G>C)
c.1535G>C (p.Ser512Thr)
c.1402-10698G>C (n.1402-10698G>C)
c.1871G>C (p.Ser624Thr)
c.2051G>C (p.Ser684Thr)
c.1718G>C (p.Ser573Thr)
7g.117592128G>TCA368979011CFTRc.1961G>T (p.Ser654Ile)
c.*1675G>T (n.*1675G>T)
c.1778G>T (p.Ser593Ile)
c.*261G>T (n.*261G>T)
c.*1785G>T (n.*1785G>T)
c.1535G>T (p.Ser512Ile)
c.1402-10698G>T (n.1402-10698G>T)
c.1871G>T (p.Ser624Ile)
c.2051G>T (p.Ser684Ile)
c.1718G>T (p.Ser573Ile)
7g.117592129T>ACA368979017CFTRc.1962T>A (p.Ser654Arg)
c.*1676T>A (n.*1676T>A)
c.1779T>A (p.Ser593Arg)
c.*262T>A (n.*262T>A)
c.*1786T>A (n.*1786T>A)
c.1536T>A (p.Ser512Arg)
c.1402-10697T>A (n.1402-10697T>A)
c.1872T>A (p.Ser624Arg)
c.2052T>A (p.Ser684Arg)
c.1719T>A (p.Ser573Arg)
7g.117592129T>CCA457448906CFTRc.1962T>C (p.Ser654=)
c.*1676T>C (n.*1676T>C)
c.1779T>C (p.Ser593=)
c.*262T>C (n.*262T>C)
c.*1786T>C (n.*1786T>C)
c.1536T>C (p.Ser512=)
c.1402-10697T>C (n.1402-10697T>C)
c.1872T>C (p.Ser624=)
c.2052T>C (p.Ser684=)
c.1719T>C (p.Ser573=)
 ClinVar dbSNP gnomAD v4
7g.117592129T>GCA368979019CFTRc.1962T>G (p.Ser654Arg)
c.*1676T>G (n.*1676T>G)
c.1779T>G (p.Ser593Arg)
c.*262T>G (n.*262T>G)
c.*1786T>G (n.*1786T>G)
c.1536T>G (p.Ser512Arg)
c.1402-10697T>G (n.1402-10697T>G)
c.1872T>G (p.Ser624Arg)
c.2052T>G (p.Ser684Arg)
c.1719T>G (p.Ser573Arg)
 ClinVar dbSNP
7g.117592129T=CA1737394320CFTRc.1962T= (p.Ser654=)
c.*1676T= (n.*1676T=)
c.1779T= (p.Ser593=)
c.*262T= (n.*262T=)
c.*1786T= (n.*1786T=)
c.1536T= (p.Ser512=)
c.1402-10697T= (n.1402-10697T=)
c.1872T= (p.Ser624=)
c.2052T= (p.Ser684=)
c.1719T= (p.Ser573=)
7g.117592130G>ACA368979021CFTRc.1963G>A (p.Ala655Thr)
c.*1677G>A (n.*1677G>A)
c.1780G>A (p.Ala594Thr)
c.*263G>A (n.*263G>A)
c.*1787G>A (n.*1787G>A)
c.1537G>A (p.Ala513Thr)
c.1402-10696G>A (n.1402-10696G>A)
c.1873G>A (p.Ala625Thr)
c.2053G>A (p.Ala685Thr)
c.1720G>A (p.Ala574Thr)
 dbSNP COSMIC
7g.117592130G>CCA368979022CFTRc.1963G>C (p.Ala655Pro)
c.*1677G>C (n.*1677G>C)
c.1780G>C (p.Ala594Pro)
c.*263G>C (n.*263G>C)
c.*1787G>C (n.*1787G>C)
c.1537G>C (p.Ala513Pro)
c.1402-10696G>C (n.1402-10696G>C)
c.1873G>C (p.Ala625Pro)
c.2053G>C (p.Ala685Pro)
c.1720G>C (p.Ala574Pro)
7g.117592130G>TCA368979023CFTRc.1963G>T (p.Ala655Ser)
c.*1677G>T (n.*1677G>T)
c.1780G>T (p.Ala594Ser)
c.*263G>T (n.*263G>T)
c.*1787G>T (n.*1787G>T)
c.1537G>T (p.Ala513Ser)
c.1402-10696G>T (n.1402-10696G>T)
c.1873G>T (p.Ala625Ser)
c.2053G>T (p.Ala685Ser)
c.1720G>T (p.Ala574Ser)
7g.117592131C>ACA368979026CFTRc.1964C>A (p.Ala655Glu)
c.*1678C>A (n.*1678C>A)
c.1781C>A (p.Ala594Glu)
c.*264C>A (n.*264C>A)
c.*1788C>A (n.*1788C>A)
c.1538C>A (p.Ala513Glu)
c.1402-10695C>A (n.1402-10695C>A)
c.1874C>A (p.Ala625Glu)
c.2054C>A (p.Ala685Glu)
c.1721C>A (p.Ala574Glu)
7g.117592131C>GCA368979028CFTRc.1964C>G (p.Ala655Gly)
c.*1678C>G (n.*1678C>G)
c.1781C>G (p.Ala594Gly)
c.*264C>G (n.*264C>G)
c.*1788C>G (n.*1788C>G)
c.1538C>G (p.Ala513Gly)
c.1402-10695C>G (n.1402-10695C>G)
c.1874C>G (p.Ala625Gly)
c.2054C>G (p.Ala685Gly)
c.1721C>G (p.Ala574Gly)
7g.117592131C>TCA368979031CFTRc.1964C>T (p.Ala655Val)
c.*1678C>T (n.*1678C>T)
c.1781C>T (p.Ala594Val)
c.*264C>T (n.*264C>T)
c.*1788C>T (n.*1788C>T)
c.1538C>T (p.Ala513Val)
c.1402-10695C>T (n.1402-10695C>T)
c.1874C>T (p.Ala625Val)
c.2054C>T (p.Ala685Val)
c.1721C>T (p.Ala574Val)
 ClinVar gnomAD v4
7g.117592132A>CCA457448909CFTRc.1965A>C (p.Ala655=)
c.*1679A>C (n.*1679A>C)
c.1782A>C (p.Ala594=)
c.*265A>C (n.*265A>C)
c.*1789A>C (n.*1789A>C)
c.1539A>C (p.Ala513=)
c.1402-10694A>C (n.1402-10694A>C)
c.1875A>C (p.Ala625=)
c.2055A>C (p.Ala685=)
c.1722A>C (p.Ala574=)
7g.117592132A>GCA457448907CFTRc.1965A>G (p.Ala655=)
c.*1679A>G (n.*1679A>G)
c.1782A>G (p.Ala594=)
c.*265A>G (n.*265A>G)
c.*1789A>G (n.*1789A>G)
c.1539A>G (p.Ala513=)
c.1402-10694A>G (n.1402-10694A>G)
c.1875A>G (p.Ala625=)
c.2055A>G (p.Ala685=)
c.1722A>G (p.Ala574=)
7g.117592132A>TCA457448908CFTRc.1965A>T (p.Ala655=)
c.*1679A>T (n.*1679A>T)
c.1782A>T (p.Ala594=)
c.*265A>T (n.*265A>T)
c.*1789A>T (n.*1789A>T)
c.1539A>T (p.Ala513=)
c.1402-10694A>T (n.1402-10694A>T)
c.1875A>T (p.Ala625=)
c.2055A>T (p.Ala685=)
c.1722A>T (p.Ala574=)
7g.117592133G>ACA368979033CFTRc.1966G>A (p.Glu656Lys)
c.*1680G>A (n.*1680G>A)
c.1783G>A (p.Glu595Lys)
c.*266G>A (n.*266G>A)
c.*1790G>A (n.*1790G>A)
c.1540G>A (p.Glu514Lys)
c.1402-10693G>A (n.1402-10693G>A)
c.1876G>A (p.Glu626Lys)
c.2056G>A (p.Glu686Lys)
c.1723G>A (p.Glu575Lys)
7g.117592133G>CCA368979035CFTRc.1966G>C (p.Glu656Gln)
c.*1680G>C (n.*1680G>C)
c.1783G>C (p.Glu595Gln)
c.*266G>C (n.*266G>C)
c.*1790G>C (n.*1790G>C)
c.1540G>C (p.Glu514Gln)
c.1402-10693G>C (n.1402-10693G>C)
c.1876G>C (p.Glu626Gln)
c.2056G>C (p.Glu686Gln)
c.1723G>C (p.Glu575Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117592133G=CA1737394326CFTRc.1966G= (p.Glu656=)
c.*1680G= (n.*1680G=)
c.1783G= (p.Glu595=)
c.*266G= (n.*266G=)
c.*1790G= (n.*1790G=)
c.1540G= (p.Glu514=)
c.1402-10693G= (n.1402-10693G=)
c.1876G= (p.Glu626=)
c.2056G= (p.Glu686=)
c.1723G= (p.Glu575=)
7g.117592133G>TCA326719CFTRc.1966G>T (p.Glu656Ter)
c.*1680G>T (n.*1680G>T)
c.1783G>T (p.Glu595Ter)
c.*266G>T (n.*266G>T)
c.*1790G>T (n.*1790G>T)
c.1540G>T (p.Glu514Ter)
c.1402-10693G>T (n.1402-10693G>T)
c.1876G>T (p.Glu626Ter)
c.2056G>T (p.Glu686Ter)
c.1723G>T (p.Glu575Ter)
 ClinVar dbSNP
7g.117592134A=CA1737394333CFTRc.1967A= (p.Glu656=)
c.*1681A= (n.*1681A=)
c.1784A= (p.Glu595=)
c.*267A= (n.*267A=)
c.*1791A= (n.*1791A=)
c.1541A= (p.Glu514=)
c.1402-10692A= (n.1402-10692A=)
c.1877A= (p.Glu626=)
c.2057A= (p.Glu686=)
c.1724A= (p.Glu575=)
7g.117592134A>CCA368979042CFTRc.1967A>C (p.Glu656Ala)
c.*1681A>C (n.*1681A>C)
c.1784A>C (p.Glu595Ala)
c.*267A>C (n.*267A>C)
c.*1791A>C (n.*1791A>C)
c.1541A>C (p.Glu514Ala)
c.1402-10692A>C (n.1402-10692A>C)
c.1877A>C (p.Glu626Ala)
c.2057A>C (p.Glu686Ala)
c.1724A>C (p.Glu575Ala)
7g.117592134A>GCA368979040CFTRc.1967A>G (p.Glu656Gly)
c.*1681A>G (n.*1681A>G)
c.1784A>G (p.Glu595Gly)
c.*267A>G (n.*267A>G)
c.*1791A>G (n.*1791A>G)
c.1541A>G (p.Glu514Gly)
c.1402-10692A>G (n.1402-10692A>G)
c.1877A>G (p.Glu626Gly)
c.2057A>G (p.Glu686Gly)
c.1724A>G (p.Glu575Gly)
 ClinVar dbSNP
7g.117592134A>TCA368979038CFTRc.1967A>T (p.Glu656Val)
c.*1681A>T (n.*1681A>T)
c.1784A>T (p.Glu595Val)
c.*267A>T (n.*267A>T)
c.*1791A>T (n.*1791A>T)
c.1541A>T (p.Glu514Val)
c.1402-10692A>T (n.1402-10692A>T)
c.1877A>T (p.Glu626Val)
c.2057A>T (p.Glu686Val)
c.1724A>T (p.Glu575Val)
7g.117592135A>CCA368979045CFTRc.1968A>C (p.Glu656Asp)
c.*1682A>C (n.*1682A>C)
c.1785A>C (p.Glu595Asp)
c.*268A>C (n.*268A>C)
c.*1792A>C (n.*1792A>C)
c.1542A>C (p.Glu514Asp)
c.1402-10691A>C (n.1402-10691A>C)
c.1878A>C (p.Glu626Asp)
c.2058A>C (p.Glu686Asp)
c.1725A>C (p.Glu575Asp)
7g.117592135A>GCA457448910CFTRc.1968A>G (p.Glu656=)
c.*1682A>G (n.*1682A>G)
c.1785A>G (p.Glu595=)
c.*268A>G (n.*268A>G)
c.*1792A>G (n.*1792A>G)
c.1542A>G (p.Glu514=)
c.1402-10691A>G (n.1402-10691A>G)
c.1878A>G (p.Glu626=)
c.2058A>G (p.Glu686=)
c.1725A>G (p.Glu575=)
7g.117592135A>TCA368979047CFTRc.1968A>T (p.Glu656Asp)
c.*1682A>T (n.*1682A>T)
c.1785A>T (p.Glu595Asp)
c.*268A>T (n.*268A>T)
c.*1792A>T (n.*1792A>T)
c.1542A>T (p.Glu514Asp)
c.1402-10691A>T (n.1402-10691A>T)
c.1878A>T (p.Glu626Asp)
c.2058A>T (p.Glu686Asp)
c.1725A>T (p.Glu575Asp)
7g.117592136A=CA1737394336CFTRc.1969A= (p.Arg657=)
c.*1683A= (n.*1683A=)
c.1786A= (p.Arg596=)
c.*269A= (n.*269A=)
c.*1793A= (n.*1793A=)
c.1543A= (p.Arg515=)
c.1402-10690A= (n.1402-10690A=)
c.1879A= (p.Arg627=)
c.2059A= (p.Arg687=)
c.1726A= (p.Arg576=)
7g.117592136A>CCA457448911CFTRc.1969A>C (p.Arg657=)
c.*1683A>C (n.*1683A>C)
c.1786A>C (p.Arg596=)
c.*269A>C (n.*269A>C)
c.*1793A>C (n.*1793A>C)
c.1543A>C (p.Arg515=)
c.1402-10690A>C (n.1402-10690A>C)
c.1879A>C (p.Arg627=)
c.2059A>C (p.Arg687=)
c.1726A>C (p.Arg576=)
7g.117592136A>GCA368979050CFTRc.1969A>G (p.Arg657Gly)
c.*1683A>G (n.*1683A>G)
c.1786A>G (p.Arg596Gly)
c.*269A>G (n.*269A>G)
c.*1793A>G (n.*1793A>G)
c.1543A>G (p.Arg515Gly)
c.1402-10690A>G (n.1402-10690A>G)
c.1879A>G (p.Arg627Gly)
c.2059A>G (p.Arg687Gly)
c.1726A>G (p.Arg576Gly)
 gnomAD v4
7g.117592136A>TCA368979052CFTRc.1969A>T (p.Arg657Ter)
c.*1683A>T (n.*1683A>T)
c.1786A>T (p.Arg596Ter)
c.*269A>T (n.*269A>T)
c.*1793A>T (n.*1793A>T)
c.1543A>T (p.Arg515Ter)
c.1402-10690A>T (n.1402-10690A>T)
c.1879A>T (p.Arg627Ter)
c.2059A>T (p.Arg687Ter)
c.1726A>T (p.Arg576Ter)
 ClinVar dbSNP
7g.117592137delCA457448912CFTRc.1970del (p.Arg657LysfsTer6)
c.*1684del (n.*1684del)
c.1787del (p.Arg596LysfsTer6)
c.*270del (n.*270del)
c.*1794del (n.*1794del)
c.1544del (p.Arg515LysfsTer6)
c.1402-10689del (n.1402-10689del)
c.1880del (p.Arg627LysfsTer6)
c.2060del (p.Arg687LysfsTer6)
c.1727del (p.Arg576LysfsTer6)
 ClinVar dbSNP
7g.117592137G>ACA368979054CFTRc.1970G>A (p.Arg657Lys)
c.*1684G>A (n.*1684G>A)
c.1787G>A (p.Arg596Lys)
c.*270G>A (n.*270G>A)
c.*1794G>A (n.*1794G>A)
c.1544G>A (p.Arg515Lys)
c.1402-10689G>A (n.1402-10689G>A)
c.1880G>A (p.Arg627Lys)
c.2060G>A (p.Arg687Lys)
c.1727G>A (p.Arg576Lys)
 ClinVar
7g.117592137G>CCA368979058CFTRc.1970G>C (p.Arg657Thr)
c.*1684G>C (n.*1684G>C)
c.1787G>C (p.Arg596Thr)
c.*270G>C (n.*270G>C)
c.*1794G>C (n.*1794G>C)
c.1544G>C (p.Arg515Thr)
c.1402-10689G>C (n.1402-10689G>C)
c.1880G>C (p.Arg627Thr)
c.2060G>C (p.Arg687Thr)
c.1727G>C (p.Arg576Thr)
7g.117592137G>TCA368979060CFTRc.1970G>T (p.Arg657Ile)
c.*1684G>T (n.*1684G>T)
c.1787G>T (p.Arg596Ile)
c.*270G>T (n.*270G>T)
c.*1794G>T (n.*1794G>T)
c.1544G>T (p.Arg515Ile)
c.1402-10689G>T (n.1402-10689G>T)
c.1880G>T (p.Arg627Ile)
c.2060G>T (p.Arg687Ile)
c.1727G>T (p.Arg576Ile)
 gnomAD v4
7g.117592138A>CCA368979063CFTRc.1971A>C (p.Arg657Ser)
c.*1685A>C (n.*1685A>C)
c.1788A>C (p.Arg596Ser)
c.*271A>C (n.*271A>C)
c.*1795A>C (n.*1795A>C)
c.1545A>C (p.Arg515Ser)
c.1402-10688A>C (n.1402-10688A>C)
c.1881A>C (p.Arg627Ser)
c.2061A>C (p.Arg687Ser)
c.1728A>C (p.Arg576Ser)
7g.117592138A>GCA457448913CFTRc.1971A>G (p.Arg657=)
c.*1685A>G (n.*1685A>G)
c.1788A>G (p.Arg596=)
c.*271A>G (n.*271A>G)
c.*1795A>G (n.*1795A>G)
c.1545A>G (p.Arg515=)
c.1402-10688A>G (n.1402-10688A>G)
c.1881A>G (p.Arg627=)
c.2061A>G (p.Arg687=)
c.1728A>G (p.Arg576=)
7g.117592138A>TCA368979064CFTRc.1971A>T (p.Arg657Ser)
c.*1685A>T (n.*1685A>T)
c.1788A>T (p.Arg596Ser)
c.*271A>T (n.*271A>T)
c.*1795A>T (n.*1795A>T)
c.1545A>T (p.Arg515Ser)
c.1402-10688A>T (n.1402-10688A>T)
c.1881A>T (p.Arg627Ser)
c.2061A>T (p.Arg687Ser)
c.1728A>T (p.Arg576Ser)
7g.117592139dupCA2684619355CFTRc.1972dup (p.Arg658LysfsTer7)
c.*1686dup (n.*1686dup)
c.1789dup (p.Arg597LysfsTer7)
c.*272dup (n.*272dup)
c.*1796dup (n.*1796dup)
c.1546dup (p.Arg516LysfsTer7)
c.1402-10687dup (n.1402-10687dup)
c.1882dup (p.Arg628LysfsTer7)
c.2062dup (p.Arg688LysfsTer7)
c.1729dup (p.Arg577LysfsTer7)
 ClinVar gnomAD v4
7g.117592139A>CCA457448914CFTRc.1972A>C (p.Arg658=)
c.*1686A>C (n.*1686A>C)
c.1789A>C (p.Arg597=)
c.*272A>C (n.*272A>C)
c.*1796A>C (n.*1796A>C)
c.1546A>C (p.Arg516=)
c.1402-10687A>C (n.1402-10687A>C)
c.1882A>C (p.Arg628=)
c.2062A>C (p.Arg688=)
c.1729A>C (p.Arg577=)
7g.117592139A>GCA368979068CFTRc.1972A>G (p.Arg658Gly)
c.*1686A>G (n.*1686A>G)
c.1789A>G (p.Arg597Gly)
c.*272A>G (n.*272A>G)
c.*1796A>G (n.*1796A>G)
c.1546A>G (p.Arg516Gly)
c.1402-10687A>G (n.1402-10687A>G)
c.1882A>G (p.Arg628Gly)
c.2062A>G (p.Arg688Gly)
c.1729A>G (p.Arg577Gly)
7g.117592139A>TCA368979069CFTRc.1972A>T (p.Arg658Ter)
c.*1686A>T (n.*1686A>T)
c.1789A>T (p.Arg597Ter)
c.*272A>T (n.*272A>T)
c.*1796A>T (n.*1796A>T)
c.1546A>T (p.Arg516Ter)
c.1402-10687A>T (n.1402-10687A>T)
c.1882A>T (p.Arg628Ter)
c.2062A>T (p.Arg688Ter)
c.1729A>T (p.Arg577Ter)
7g.117592139_117592152delinsAGAAATTCAATCCTCA1737394341CFTRc.1972_1985delinsAGAAATTCAATCCT (p.Arg658=)
c.*1686_*1699delinsAGAAATTCAATCCT (n.*1686_*1699delinsAGAAATTCAATCCT)
c.1789_1802delinsAGAAATTCAATCCT (p.Arg597=)
c.*272_*285delinsAGAAATTCAATCCT (n.*272_*285delinsAGAAATTCAATCCT)
c.*1796_*1809delinsAGAAATTCAATCCT (n.*1796_*1809delinsAGAAATTCAATCCT)
c.1546_1559delinsAGAAATTCAATCCT (p.Arg516=)
c.1402-10687_1402-10674delinsAGAAATTCAATCCT (n.1402-10687_1402-10674delinsAGAAATTCAATCCT)
c.1882_1895delinsAGAAATTCAATCCT (p.Arg628=)
c.2062_2075delinsAGAAATTCAATCCT (p.Arg688=)
c.1729_1742delinsAGAAATTCAATCCT (p.Arg577=)
7g.117592140delCA2580076510CFTRc.1973del (p.Arg658LysfsTer5)
c.*1687del (n.*1687del)
c.1790del (p.Arg597LysfsTer5)
c.*273del (n.*273del)
c.*1797del (n.*1797del)
c.1547del (p.Arg516LysfsTer5)
c.1402-10686del (n.1402-10686del)
c.1883del (p.Arg628LysfsTer5)
c.2063del (p.Arg688LysfsTer5)
c.1730del (p.Arg577LysfsTer5)
 ClinVar
7g.117592140G>ACA368979079CFTRc.1973G>A (p.Arg658Lys)
c.*1687G>A (n.*1687G>A)
c.1790G>A (p.Arg597Lys)
c.*273G>A (n.*273G>A)
c.*1797G>A (n.*1797G>A)
c.1547G>A (p.Arg516Lys)
c.1402-10686G>A (n.1402-10686G>A)
c.1883G>A (p.Arg628Lys)
c.2063G>A (p.Arg688Lys)
c.1730G>A (p.Arg577Lys)
 dbSNP COSMIC
7g.117592140G>CCA368979077CFTRc.1973G>C (p.Arg658Thr)
c.*1687G>C (n.*1687G>C)
c.1790G>C (p.Arg597Thr)
c.*273G>C (n.*273G>C)
c.*1797G>C (n.*1797G>C)
c.1547G>C (p.Arg516Thr)
c.1402-10686G>C (n.1402-10686G>C)
c.1883G>C (p.Arg628Thr)
c.2063G>C (p.Arg688Thr)
c.1730G>C (p.Arg577Thr)
7g.117592140G>TCA368979073CFTRc.1973G>T (p.Arg658Ile)
c.*1687G>T (n.*1687G>T)
c.1790G>T (p.Arg597Ile)
c.*273G>T (n.*273G>T)
c.*1797G>T (n.*1797G>T)
c.1547G>T (p.Arg516Ile)
c.1402-10686G>T (n.1402-10686G>T)
c.1883G>T (p.Arg628Ile)
c.2063G>T (p.Arg688Ile)
c.1730G>T (p.Arg577Ile)
7g.117592140_117592141delinsGACA1737394352CFTRc.1973_1974delinsGA (p.Arg658=)
c.*1687_*1688delinsGA (n.*1687_*1688delinsGA)
c.1790_1791delinsGA (p.Arg597=)
c.*273_*274delinsGA (n.*273_*274delinsGA)
c.*1797_*1798delinsGA (n.*1797_*1798delinsGA)
c.1547_1548delinsGA (p.Arg516=)
c.1402-10686_1402-10685delinsGA (n.1402-10686_1402-10685delinsGA)
c.1883_1884delinsGA (p.Arg628=)
c.2063_2064delinsGA (p.Arg688=)
c.1730_1731delinsGA (p.Arg577=)
7g.117592140_117592152delinsAGAACA2695208506CFTRc.1973_1985delinsAGAA (p.Arg658_Leu662delinsLysLys)
c.*1687_*1699delinsAGAA (n.*1687_*1699delinsAGAA)
c.1790_1802delinsAGAA (p.Arg597_Leu601delinsLysLys)
c.*273_*285delinsAGAA (n.*273_*285delinsAGAA)
c.*1797_*1809delinsAGAA (n.*1797_*1809delinsAGAA)
c.1547_1559delinsAGAA (p.Arg516_Leu520delinsLysLys)
c.1402-10686_1402-10674delinsAGAA (n.1402-10686_1402-10674delinsAGAA)
c.1883_1895delinsAGAA (p.Arg628_Leu632delinsLysLys)
c.2063_2075delinsAGAA (p.Arg688_Leu692delinsLysLys)
c.1730_1742delinsAGAA (p.Arg577_Leu581delinsLysLys)
7g.117592140_117592152delinsAGAAACA326721CFTRc.1973_1985delinsAGAAA (p.Arg658LysfsTer4)
c.*1687_*1699delinsAGAAA (n.*1687_*1699delinsAGAAA)
c.1790_1802delinsAGAAA (p.Arg597LysfsTer4)
c.*273_*285delinsAGAAA (n.*273_*285delinsAGAAA)
c.*1797_*1809delinsAGAAA (n.*1797_*1809delinsAGAAA)
c.1547_1559delinsAGAAA (p.Arg516LysfsTer4)
c.1402-10686_1402-10674delinsAGAAA (n.1402-10686_1402-10674delinsAGAAA)
c.1883_1895delinsAGAAA (p.Arg628LysfsTer4)
c.2063_2075delinsAGAAA (p.Arg688LysfsTer4)
c.1730_1742delinsAGAAA (p.Arg577LysfsTer4)
 ClinVar dbSNP
7g.117592141A>CCA368979082CFTRc.1974A>C (p.Arg658Ser)
c.*1688A>C (n.*1688A>C)
c.1791A>C (p.Arg597Ser)
c.*274A>C (n.*274A>C)
c.*1798A>C (n.*1798A>C)
c.1548A>C (p.Arg516Ser)
c.1402-10685A>C (n.1402-10685A>C)
c.1884A>C (p.Arg628Ser)
c.2064A>C (p.Arg688Ser)
c.1731A>C (p.Arg577Ser)
7g.117592141A>GCA457448915CFTRc.1974A>G (p.Arg658=)
c.*1688A>G (n.*1688A>G)
c.1791A>G (p.Arg597=)
c.*274A>G (n.*274A>G)
c.*1798A>G (n.*1798A>G)
c.1548A>G (p.Arg516=)
c.1402-10685A>G (n.1402-10685A>G)
c.1884A>G (p.Arg628=)
c.2064A>G (p.Arg688=)
c.1731A>G (p.Arg577=)
 ClinVar dbSNP gnomAD v4
7g.117592141A>TCA368979084CFTRc.1974A>T (p.Arg658Ser)
c.*1688A>T (n.*1688A>T)
c.1791A>T (p.Arg597Ser)
c.*274A>T (n.*274A>T)
c.*1798A>T (n.*1798A>T)
c.1548A>T (p.Arg516Ser)
c.1402-10685A>T (n.1402-10685A>T)
c.1884A>T (p.Arg628Ser)
c.2064A>T (p.Arg688Ser)
c.1731A>T (p.Arg577Ser)
7g.117592141_117592142insGAAAACA923726133CFTRc.1974_1975insGAAAA (p.Asn659GlufsTer6)
c.*1688_*1689insGAAAA (n.*1688_*1689insGAAAA)
c.1791_1792insGAAAA (p.Asn598GlufsTer6)
c.*274_*275insGAAAA (n.*274_*275insGAAAA)
c.*1798_*1799insGAAAA (n.*1798_*1799insGAAAA)
c.1548_1549insGAAAA (p.Asn517GlufsTer6)
c.1402-10685_1402-10684insGAAAA (n.1402-10685_1402-10684insGAAAA)
c.1884_1885insGAAAA (p.Asn629GlufsTer6)
c.2064_2065insGAAAA (p.Asn689GlufsTer6)
c.1731_1732insGAAAA (p.Asn578GlufsTer6)
7g.117592143delCA326722CFTRc.1976del (p.Asn659IlefsTer4)
c.*1690del (n.*1690del)
c.1793del (p.Asn598IlefsTer4)
c.*276del (n.*276del)
c.*1800del (n.*1800del)
c.1550del (p.Asn517IlefsTer4)
c.1402-10683del (n.1402-10683del)
c.1886del (p.Asn629IlefsTer4)
c.2066del (p.Asn689IlefsTer4)
c.1733del (p.Asn578IlefsTer4)
 ClinVar dbSNP
7g.117592142A>CCA368979088CFTRc.1975A>C (p.Asn659His)
c.*1689A>C (n.*1689A>C)
c.1792A>C (p.Asn598His)
c.*275A>C (n.*275A>C)
c.*1799A>C (n.*1799A>C)
c.1549A>C (p.Asn517His)
c.1402-10684A>C (n.1402-10684A>C)
c.1885A>C (p.Asn629His)
c.2065A>C (p.Asn689His)
c.1732A>C (p.Asn578His)
7g.117592142A>GCA368979090CFTRc.1975A>G (p.Asn659Asp)
c.*1689A>G (n.*1689A>G)
c.1792A>G (p.Asn598Asp)
c.*275A>G (n.*275A>G)
c.*1799A>G (n.*1799A>G)
c.1549A>G (p.Asn517Asp)
c.1402-10684A>G (n.1402-10684A>G)
c.1885A>G (p.Asn629Asp)
c.2065A>G (p.Asn689Asp)
c.1732A>G (p.Asn578Asp)
7g.117592142A>TCA368979092CFTRc.1975A>T (p.Asn659Tyr)
c.*1689A>T (n.*1689A>T)
c.1792A>T (p.Asn598Tyr)
c.*275A>T (n.*275A>T)
c.*1799A>T (n.*1799A>T)
c.1549A>T (p.Asn517Tyr)
c.1402-10684A>T (n.1402-10684A>T)
c.1885A>T (p.Asn629Tyr)
c.2065A>T (p.Asn689Tyr)
c.1732A>T (p.Asn578Tyr)
7g.117592143A>CCA368979095CFTRc.1976A>C (p.Asn659Thr)
c.*1690A>C (n.*1690A>C)
c.1793A>C (p.Asn598Thr)
c.*276A>C (n.*276A>C)
c.*1800A>C (n.*1800A>C)
c.1550A>C (p.Asn517Thr)
c.1402-10683A>C (n.1402-10683A>C)
c.1886A>C (p.Asn629Thr)
c.2066A>C (p.Asn689Thr)
c.1733A>C (p.Asn578Thr)
7g.117592143A>GCA368979097CFTRc.1976A>G (p.Asn659Ser)
c.*1690A>G (n.*1690A>G)
c.1793A>G (p.Asn598Ser)
c.*276A>G (n.*276A>G)
c.*1800A>G (n.*1800A>G)
c.1550A>G (p.Asn517Ser)
c.1402-10683A>G (n.1402-10683A>G)
c.1886A>G (p.Asn629Ser)
c.2066A>G (p.Asn689Ser)
c.1733A>G (p.Asn578Ser)
7g.117592143A>TCA368979099CFTRc.1976A>T (p.Asn659Ile)
c.*1690A>T (n.*1690A>T)
c.1793A>T (p.Asn598Ile)
c.*276A>T (n.*276A>T)
c.*1800A>T (n.*1800A>T)
c.1550A>T (p.Asn517Ile)
c.1402-10683A>T (n.1402-10683A>T)
c.1886A>T (p.Asn629Ile)
c.2066A>T (p.Asn689Ile)
c.1733A>T (p.Asn578Ile)
7g.117592144T>ACA368979102CFTRc.1977T>A (p.Asn659Lys)
c.*1691T>A (n.*1691T>A)
c.1794T>A (p.Asn598Lys)
c.*277T>A (n.*277T>A)
c.*1801T>A (n.*1801T>A)
c.1551T>A (p.Asn517Lys)
c.1402-10682T>A (n.1402-10682T>A)
c.1887T>A (p.Asn629Lys)
c.2067T>A (p.Asn689Lys)
c.1734T>A (p.Asn578Lys)
7g.117592144T>CCA457448919CFTRc.1977T>C (p.Asn659=)
c.*1691T>C (n.*1691T>C)
c.1794T>C (p.Asn598=)
c.*277T>C (n.*277T>C)
c.*1801T>C (n.*1801T>C)
c.1551T>C (p.Asn517=)
c.1402-10682T>C (n.1402-10682T>C)
c.1887T>C (p.Asn629=)
c.2067T>C (p.Asn689=)
c.1734T>C (p.Asn578=)
7g.117592144T>GCA368979104CFTRc.1977T>G (p.Asn659Lys)
c.*1691T>G (n.*1691T>G)
c.1794T>G (p.Asn598Lys)
c.*277T>G (n.*277T>G)
c.*1801T>G (n.*1801T>G)
c.1551T>G (p.Asn517Lys)
c.1402-10682T>G (n.1402-10682T>G)
c.1887T>G (p.Asn629Lys)
c.2067T>G (p.Asn689Lys)
c.1734T>G (p.Asn578Lys)
7g.117592144_117592152delCA2684619356CFTRc.1977_1985del (p.Asn659_Leu662delinsLys)
c.*1691_*1699del (n.*1691_*1699del)
c.1794_1802del (p.Asn598_Leu601delinsLys)
c.*277_*285del (n.*277_*285del)
c.*1801_*1809del (n.*1801_*1809del)
c.1551_1559del (p.Asn517_Leu520delinsLys)
c.1402-10682_1402-10674del (n.1402-10682_1402-10674del)
c.1887_1895del (p.Asn629_Leu632delinsLys)
c.2067_2075del (p.Asn689_Leu692delinsLys)
c.1734_1742del (p.Asn578_Leu581delinsLys)
 gnomAD v4
7g.117592145T>ACA368979112CFTRc.1978T>A (p.Ser660Thr)
c.*1692T>A (n.*1692T>A)
c.1795T>A (p.Ser599Thr)
c.*278T>A (n.*278T>A)
c.*1802T>A (n.*1802T>A)
c.1552T>A (p.Ser518Thr)
c.1402-10681T>A (n.1402-10681T>A)
c.1888T>A (p.Ser630Thr)
c.2068T>A (p.Ser690Thr)
c.1735T>A (p.Ser579Thr)
7g.117592145T>CCA368979107CFTRc.1978T>C (p.Ser660Pro)
c.*1692T>C (n.*1692T>C)
c.1795T>C (p.Ser599Pro)
c.*278T>C (n.*278T>C)
c.*1802T>C (n.*1802T>C)
c.1552T>C (p.Ser518Pro)
c.1402-10681T>C (n.1402-10681T>C)
c.1888T>C (p.Ser630Pro)
c.2068T>C (p.Ser690Pro)
c.1735T>C (p.Ser579Pro)
 gnomAD v4
7g.117592145T>GCA368979110CFTRc.1978T>G (p.Ser660Ala)
c.*1692T>G (n.*1692T>G)
c.1795T>G (p.Ser599Ala)
c.*278T>G (n.*278T>G)
c.*1802T>G (n.*1802T>G)
c.1552T>G (p.Ser518Ala)
c.1402-10681T>G (n.1402-10681T>G)
c.1888T>G (p.Ser630Ala)
c.2068T>G (p.Ser690Ala)
c.1735T>G (p.Ser579Ala)
7g.117592146C>ACA368979115CFTRc.1979C>A (p.Ser660Ter)
c.*1693C>A (n.*1693C>A)
c.1796C>A (p.Ser599Ter)
c.*279C>A (n.*279C>A)
c.*1803C>A (n.*1803C>A)
c.1553C>A (p.Ser518Ter)
c.1402-10680C>A (n.1402-10680C>A)
c.1889C>A (p.Ser630Ter)
c.2069C>A (p.Ser690Ter)
c.1736C>A (p.Ser579Ter)
7g.117592146C=CA1737394364CFTRc.1979C= (p.Ser660=)
c.*1693C= (n.*1693C=)
c.1796C= (p.Ser599=)
c.*279C= (n.*279C=)
c.*1803C= (n.*1803C=)
c.1553C= (p.Ser518=)
c.1402-10680C= (n.1402-10680C=)
c.1889C= (p.Ser630=)
c.2069C= (p.Ser690=)
c.1736C= (p.Ser579=)
7g.117592146C>GCA368979116CFTRc.1979C>G (p.Ser660Ter)
c.*1693C>G (n.*1693C>G)
c.1796C>G (p.Ser599Ter)
c.*279C>G (n.*279C>G)
c.*1803C>G (n.*1803C>G)
c.1553C>G (p.Ser518Ter)
c.1402-10680C>G (n.1402-10680C>G)
c.1889C>G (p.Ser630Ter)
c.2069C>G (p.Ser690Ter)
c.1736C>G (p.Ser579Ter)
 ClinVar dbSNP COSMIC
7g.117592146C>TCA368979118CFTRc.1979C>T (p.Ser660Leu)
c.*1693C>T (n.*1693C>T)
c.1796C>T (p.Ser599Leu)
c.*279C>T (n.*279C>T)
c.*1803C>T (n.*1803C>T)
c.1553C>T (p.Ser518Leu)
c.1402-10680C>T (n.1402-10680C>T)
c.1889C>T (p.Ser630Leu)
c.2069C>T (p.Ser690Leu)
c.1736C>T (p.Ser579Leu)
 COSMIC
7g.117592146_117592147delinsCACA1737394363CFTRc.1979_1980delinsCA (p.Ser660=)
c.*1693_*1694delinsCA (n.*1693_*1694delinsCA)
c.1796_1797delinsCA (p.Ser599=)
c.*279_*280delinsCA (n.*279_*280delinsCA)
c.*1803_*1804delinsCA (n.*1803_*1804delinsCA)
c.1553_1554delinsCA (p.Ser518=)
c.1402-10680_1402-10679delinsCA (n.1402-10680_1402-10679delinsCA)
c.1889_1890delinsCA (p.Ser630=)
c.2069_2070delinsCA (p.Ser690=)
c.1736_1737delinsCA (p.Ser579=)

Number of alleles fetched