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.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.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)

Number of alleles fetched