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.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.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)
 ClinVar 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)
 ClinVar
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.117592097_117592098insATATAAATACA2840287851CFTRc.1930_1931insATATAAATA (p.Leu644delinsHisIleAsnIle)
c.*1644_*1645insATATAAATA (n.*1644_*1645insATATAAATA)
c.1747_1748insATATAAATA (p.Leu583delinsHisIleAsnIle)
c.*230_*231insATATAAATA (n.*230_*231insATATAAATA)
c.*1754_*1755insATATAAATA (n.*1754_*1755insATATAAATA)
c.1504_1505insATATAAATA (p.Leu502delinsHisIleAsnIle)
c.1402-10729_1402-10728insATATAAATA (n.1402-10729_1402-10728insATATAAATA)
c.1840_1841insATATAAATA (p.Leu614delinsHisIleAsnIle)
c.2020_2021insATATAAATA (p.Leu674delinsHisIleAsnIle)
c.1687_1688insATATAAATA (p.Leu563delinsHisIleAsnIle)
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.117592100_117592101insATTTTACA2840287853CFTRc.1933_1934insATTTTA (p.Leu644_Met645insAsnPhe)
c.*1647_*1648insATTTTA (n.*1647_*1648insATTTTA)
c.1750_1751insATTTTA (p.Leu583_Met584insAsnPhe)
c.*233_*234insATTTTA (n.*233_*234insATTTTA)
c.*1757_*1758insATTTTA (n.*1757_*1758insATTTTA)
c.1507_1508insATTTTA (p.Leu502_Met503insAsnPhe)
c.1402-10726_1402-10725insATTTTA (n.1402-10726_1402-10725insATTTTA)
c.1843_1844insATTTTA (p.Leu614_Met615insAsnPhe)
c.2023_2024insATTTTA (p.Leu674_Met675insAsnPhe)
c.1690_1691insATTTTA (p.Leu563_Met564insAsnPhe)
7g.117592100_117592101insATTTTATAACA2840287852CFTRc.1933_1934insATTTTATAA (p.Leu644_Met645insAsnPheIle)
c.*1647_*1648insATTTTATAA (n.*1647_*1648insATTTTATAA)
c.1750_1751insATTTTATAA (p.Leu583_Met584insAsnPheIle)
c.*233_*234insATTTTATAA (n.*233_*234insATTTTATAA)
c.*1757_*1758insATTTTATAA (n.*1757_*1758insATTTTATAA)
c.1507_1508insATTTTATAA (p.Leu502_Met503insAsnPheIle)
c.1402-10726_1402-10725insATTTTATAA (n.1402-10726_1402-10725insATTTTATAA)
c.1843_1844insATTTTATAA (p.Leu614_Met615insAsnPheIle)
c.2023_2024insATTTTATAA (p.Leu674_Met675insAsnPheIle)
c.1690_1691insATTTTATAA (p.Leu563_Met564insAsnPheIle)
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)
 ClinVar 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=)
7g.117592147A>CCA457448920CFTRc.1980A>C (p.Ser660=)
c.*1694A>C (n.*1694A>C)
c.1797A>C (p.Ser599=)
c.*280A>C (n.*280A>C)
c.*1804A>C (n.*1804A>C)
c.1554A>C (p.Ser518=)
c.1402-10679A>C (n.1402-10679A>C)
c.1890A>C (p.Ser630=)
c.2070A>C (p.Ser690=)
c.1737A>C (p.Ser579=)
7g.117592147A>GCA457448922CFTRc.1980A>G (p.Ser660=)
c.*1694A>G (n.*1694A>G)
c.1797A>G (p.Ser599=)
c.*280A>G (n.*280A>G)
c.*1804A>G (n.*1804A>G)
c.1554A>G (p.Ser518=)
c.1402-10679A>G (n.1402-10679A>G)
c.1890A>G (p.Ser630=)
c.2070A>G (p.Ser690=)
c.1737A>G (p.Ser579=)
7g.117592147A>TCA457448923CFTRc.1980A>T (p.Ser660=)
c.*1694A>T (n.*1694A>T)
c.1797A>T (p.Ser599=)
c.*280A>T (n.*280A>T)
c.*1804A>T (n.*1804A>T)
c.1554A>T (p.Ser518=)
c.1402-10679A>T (n.1402-10679A>T)
c.1890A>T (p.Ser630=)
c.2070A>T (p.Ser690=)
c.1737A>T (p.Ser579=)
7g.117592148delCA326723CFTRc.1981del (p.Ile661SerfsTer2)
c.*1695del (n.*1695del)
c.1798del (p.Ile600SerfsTer2)
c.*281del (n.*281del)
c.*1805del (n.*1805del)
c.1555del (p.Ile519SerfsTer2)
c.1402-10678del (n.1402-10678del)
c.1891del (p.Ile631SerfsTer2)
c.2071del (p.Ile691SerfsTer2)
c.1738del (p.Ile580SerfsTer2)
 ClinVar dbSNP
7g.117592148A=CA1737394376CFTRc.1981A= (p.Ile661=)
c.*1695A= (n.*1695A=)
c.1798A= (p.Ile600=)
c.*281A= (n.*281A=)
c.*1805A= (n.*1805A=)
c.1555A= (p.Ile519=)
c.1402-10678A= (n.1402-10678A=)
c.1891A= (p.Ile631=)
c.2071A= (p.Ile691=)
c.1738A= (p.Ile580=)
7g.117592148A>CCA368979124CFTRc.1981A>C (p.Ile661Leu)
c.*1695A>C (n.*1695A>C)
c.1798A>C (p.Ile600Leu)
c.*281A>C (n.*281A>C)
c.*1805A>C (n.*1805A>C)
c.1555A>C (p.Ile519Leu)
c.1402-10678A>C (n.1402-10678A>C)
c.1891A>C (p.Ile631Leu)
c.2071A>C (p.Ile691Leu)
c.1738A>C (p.Ile580Leu)
7g.117592148A>GCA164947651CFTRc.1981A>G (p.Ile661Val)
c.*1695A>G (n.*1695A>G)
c.1798A>G (p.Ile600Val)
c.*281A>G (n.*281A>G)
c.*1805A>G (n.*1805A>G)
c.1555A>G (p.Ile519Val)
c.1402-10678A>G (n.1402-10678A>G)
c.1891A>G (p.Ile631Val)
c.2071A>G (p.Ile691Val)
c.1738A>G (p.Ile580Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117592148A>TCA368979128CFTRc.1981A>T (p.Ile661Phe)
c.*1695A>T (n.*1695A>T)
c.1798A>T (p.Ile600Phe)
c.*281A>T (n.*281A>T)
c.*1805A>T (n.*1805A>T)
c.1555A>T (p.Ile519Phe)
c.1402-10678A>T (n.1402-10678A>T)
c.1891A>T (p.Ile631Phe)
c.2071A>T (p.Ile691Phe)
c.1738A>T (p.Ile580Phe)
7g.117592149T>ACA368979130CFTRc.1982T>A (p.Ile661Asn)
c.*1696T>A (n.*1696T>A)
c.1799T>A (p.Ile600Asn)
c.*282T>A (n.*282T>A)
c.*1806T>A (n.*1806T>A)
c.1556T>A (p.Ile519Asn)
c.1402-10677T>A (n.1402-10677T>A)
c.1892T>A (p.Ile631Asn)
c.2072T>A (p.Ile691Asn)
c.1739T>A (p.Ile580Asn)
7g.117592149T>CCA368979132CFTRc.1982T>C (p.Ile661Thr)
c.*1696T>C (n.*1696T>C)
c.1799T>C (p.Ile600Thr)
c.*282T>C (n.*282T>C)
c.*1806T>C (n.*1806T>C)
c.1556T>C (p.Ile519Thr)
c.1402-10677T>C (n.1402-10677T>C)
c.1892T>C (p.Ile631Thr)
c.2072T>C (p.Ile691Thr)
c.1739T>C (p.Ile580Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117592149T>GCA368979133CFTRc.1982T>G (p.Ile661Ser)
c.*1696T>G (n.*1696T>G)
c.1799T>G (p.Ile600Ser)
c.*282T>G (n.*282T>G)
c.*1806T>G (n.*1806T>G)
c.1556T>G (p.Ile519Ser)
c.1402-10677T>G (n.1402-10677T>G)
c.1892T>G (p.Ile631Ser)
c.2072T>G (p.Ile691Ser)
c.1739T>G (p.Ile580Ser)
7g.117592149T=CA1737394378CFTRc.1982T= (p.Ile661=)
c.*1696T= (n.*1696T=)
c.1799T= (p.Ile600=)
c.*282T= (n.*282T=)
c.*1806T= (n.*1806T=)
c.1556T= (p.Ile519=)
c.1402-10677T= (n.1402-10677T=)
c.1892T= (p.Ile631=)
c.2072T= (p.Ile691=)
c.1739T= (p.Ile580=)
7g.117592150C>ACA457448926CFTRc.1983C>A (p.Ile661=)
c.*1697C>A (n.*1697C>A)
c.1800C>A (p.Ile600=)
c.*283C>A (n.*283C>A)
c.*1807C>A (n.*1807C>A)
c.1557C>A (p.Ile519=)
c.1402-10676C>A (n.1402-10676C>A)
c.1893C>A (p.Ile631=)
c.2073C>A (p.Ile691=)
c.1740C>A (p.Ile580=)
7g.117592150C=CA1737394383CFTRc.1983C= (p.Ile661=)
c.*1697C= (n.*1697C=)
c.1800C= (p.Ile600=)
c.*283C= (n.*283C=)
c.*1807C= (n.*1807C=)
c.1557C= (p.Ile519=)
c.1402-10676C= (n.1402-10676C=)
c.1893C= (p.Ile631=)
c.2073C= (p.Ile691=)
c.1740C= (p.Ile580=)
7g.117592150C>GCA368979135CFTRc.1983C>G (p.Ile661Met)
c.*1697C>G (n.*1697C>G)
c.1800C>G (p.Ile600Met)
c.*283C>G (n.*283C>G)
c.*1807C>G (n.*1807C>G)
c.1557C>G (p.Ile519Met)
c.1402-10676C>G (n.1402-10676C>G)
c.1893C>G (p.Ile631Met)
c.2073C>G (p.Ile691Met)
c.1740C>G (p.Ile580Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117592150C>TCA457448927CFTRc.1983C>T (p.Ile661=)
c.*1697C>T (n.*1697C>T)
c.1800C>T (p.Ile600=)
c.*283C>T (n.*283C>T)
c.*1807C>T (n.*1807C>T)
c.1557C>T (p.Ile519=)
c.1402-10676C>T (n.1402-10676C>T)
c.1893C>T (p.Ile631=)
c.2073C>T (p.Ile691=)
c.1740C>T (p.Ile580=)
7g.117592150_117592154delinsCCTAACA1737394382CFTRc.1983_1987delinsCCTAA (p.Ile661=)
c.*1697_*1701delinsCCTAA (n.*1697_*1701delinsCCTAA)
c.1800_1804delinsCCTAA (p.Ile600=)
c.*283_*287delinsCCTAA (n.*283_*287delinsCCTAA)
c.*1807_*1811delinsCCTAA (n.*1807_*1811delinsCCTAA)
c.1557_1561delinsCCTAA (p.Ile519=)
c.1402-10676_1402-10672delinsCCTAA (n.1402-10676_1402-10672delinsCCTAA)
c.1893_1897delinsCCTAA (p.Ile631=)
c.2073_2077delinsCCTAA (p.Ile691=)
c.1740_1744delinsCCTAA (p.Ile580=)
7g.117592151C>ACA368979136CFTRc.1984C>A (p.Leu662Ile)
c.*1698C>A (n.*1698C>A)
c.1801C>A (p.Leu601Ile)
c.*284C>A (n.*284C>A)
c.*1808C>A (n.*1808C>A)
c.1558C>A (p.Leu520Ile)
c.1402-10675C>A (n.1402-10675C>A)
c.1894C>A (p.Leu632Ile)
c.2074C>A (p.Leu692Ile)
c.1741C>A (p.Leu581Ile)
7g.117592151C>GCA368979137CFTRc.1984C>G (p.Leu662Val)
c.*1698C>G (n.*1698C>G)
c.1801C>G (p.Leu601Val)
c.*284C>G (n.*284C>G)
c.*1808C>G (n.*1808C>G)
c.1558C>G (p.Leu520Val)
c.1402-10675C>G (n.1402-10675C>G)
c.1894C>G (p.Leu632Val)
c.2074C>G (p.Leu692Val)
c.1741C>G (p.Leu581Val)
7g.117592151C>TCA457448928CFTRc.1984C>T (p.Leu662=)
c.*1698C>T (n.*1698C>T)
c.1801C>T (p.Leu601=)
c.*284C>T (n.*284C>T)
c.*1808C>T (n.*1808C>T)
c.1558C>T (p.Leu520=)
c.1402-10675C>T (n.1402-10675C>T)
c.1894C>T (p.Leu632=)
c.2074C>T (p.Leu692=)
c.1741C>T (p.Leu581=)
7g.117592153_117592156delCA326724CFTRc.1986_1989del (p.Thr663ArgfsTer8)
c.*1700_*1703del (n.*1700_*1703del)
c.1803_1806del (p.Thr602ArgfsTer8)
c.*286_*289del (n.*286_*289del)
c.*1810_*1813del (n.*1810_*1813del)
c.1560_1563del (p.Thr521ArgfsTer8)
c.1402-10673_1402-10670del (n.1402-10673_1402-10670del)
c.1896_1899del (p.Thr633ArgfsTer8)
c.2076_2079del (p.Thr693ArgfsTer8)
c.1743_1746del (p.Thr582ArgfsTer8)
 ClinVar dbSNP gnomAD v4
7g.117592152T>ACA368979138CFTRc.1985T>A (p.Leu662Gln)
c.*1699T>A (n.*1699T>A)
c.1802T>A (p.Leu601Gln)
c.*285T>A (n.*285T>A)
c.*1809T>A (n.*1809T>A)
c.1559T>A (p.Leu520Gln)
c.1402-10674T>A (n.1402-10674T>A)
c.1895T>A (p.Leu632Gln)
c.2075T>A (p.Leu692Gln)
c.1742T>A (p.Leu581Gln)
7g.117592152T>CCA368979139CFTRc.1985T>C (p.Leu662Pro)
c.*1699T>C (n.*1699T>C)
c.1802T>C (p.Leu601Pro)
c.*285T>C (n.*285T>C)
c.*1809T>C (n.*1809T>C)
c.1559T>C (p.Leu520Pro)
c.1402-10674T>C (n.1402-10674T>C)
c.1895T>C (p.Leu632Pro)
c.2075T>C (p.Leu692Pro)
c.1742T>C (p.Leu581Pro)
7g.117592152T>GCA368979140CFTRc.1985T>G (p.Leu662Arg)
c.*1699T>G (n.*1699T>G)
c.1802T>G (p.Leu601Arg)
c.*285T>G (n.*285T>G)
c.*1809T>G (n.*1809T>G)
c.1559T>G (p.Leu520Arg)
c.1402-10674T>G (n.1402-10674T>G)
c.1895T>G (p.Leu632Arg)
c.2075T>G (p.Leu692Arg)
c.1742T>G (p.Leu581Arg)
 gnomAD v4
7g.117592153A>CCA457448930CFTRc.1986A>C (p.Leu662=)
c.*1700A>C (n.*1700A>C)
c.1803A>C (p.Leu601=)
c.*286A>C (n.*286A>C)
c.*1810A>C (n.*1810A>C)
c.1560A>C (p.Leu520=)
c.1402-10673A>C (n.1402-10673A>C)
c.1896A>C (p.Leu632=)
c.2076A>C (p.Leu692=)
c.1743A>C (p.Leu581=)
7g.117592153A>GCA457448931CFTRc.1986A>G (p.Leu662=)
c.*1700A>G (n.*1700A>G)
c.1803A>G (p.Leu601=)
c.*286A>G (n.*286A>G)
c.*1810A>G (n.*1810A>G)
c.1560A>G (p.Leu520=)
c.1402-10673A>G (n.1402-10673A>G)
c.1896A>G (p.Leu632=)
c.2076A>G (p.Leu692=)
c.1743A>G (p.Leu581=)
7g.117592153A>TCA457448933CFTRc.1986A>T (p.Leu662=)
c.*1700A>T (n.*1700A>T)
c.1803A>T (p.Leu601=)
c.*286A>T (n.*286A>T)
c.*1810A>T (n.*1810A>T)
c.1560A>T (p.Leu520=)
c.1402-10673A>T (n.1402-10673A>T)
c.1896A>T (p.Leu632=)
c.2076A>T (p.Leu692=)
c.1743A>T (p.Leu581=)
7g.117592154A=CA1737394394CFTRc.1987A= (p.Thr663=)
c.*1701A= (n.*1701A=)
c.1804A= (p.Thr602=)
c.*287A= (n.*287A=)
c.*1811A= (n.*1811A=)
c.1561A= (p.Thr521=)
c.1402-10672A= (n.1402-10672A=)
c.1897A= (p.Thr633=)
c.2077A= (p.Thr693=)
c.1744A= (p.Thr582=)
7g.117592154A>CCA368979141CFTRc.1987A>C (p.Thr663Pro)
c.*1701A>C (n.*1701A>C)
c.1804A>C (p.Thr602Pro)
c.*287A>C (n.*287A>C)
c.*1811A>C (n.*1811A>C)
c.1561A>C (p.Thr521Pro)
c.1402-10672A>C (n.1402-10672A>C)
c.1897A>C (p.Thr633Pro)
c.2077A>C (p.Thr693Pro)
c.1744A>C (p.Thr582Pro)
7g.117592154A>GCA368979142CFTRc.1987A>G (p.Thr663Ala)
c.*1701A>G (n.*1701A>G)
c.1804A>G (p.Thr602Ala)
c.*287A>G (n.*287A>G)
c.*1811A>G (n.*1811A>G)
c.1561A>G (p.Thr521Ala)
c.1402-10672A>G (n.1402-10672A>G)
c.1897A>G (p.Thr633Ala)
c.2077A>G (p.Thr693Ala)
c.1744A>G (p.Thr582Ala)
7g.117592154A>TCA368979143CFTRc.1987A>T (p.Thr663Ser)
c.*1701A>T (n.*1701A>T)
c.1804A>T (p.Thr602Ser)
c.*287A>T (n.*287A>T)
c.*1811A>T (n.*1811A>T)
c.1561A>T (p.Thr521Ser)
c.1402-10672A>T (n.1402-10672A>T)
c.1897A>T (p.Thr633Ser)
c.2077A>T (p.Thr693Ser)
c.1744A>T (p.Thr582Ser)
 dbSNP gnomAD v2 gnomAD v4
7g.117592155C>ACA368979144CFTRc.1988C>A (p.Thr663Asn)
c.*1702C>A (n.*1702C>A)
c.1805C>A (p.Thr602Asn)
c.*288C>A (n.*288C>A)
c.*1812C>A (n.*1812C>A)
c.1562C>A (p.Thr521Asn)
c.1402-10671C>A (n.1402-10671C>A)
c.1898C>A (p.Thr633Asn)
c.2078C>A (p.Thr693Asn)
c.1745C>A (p.Thr582Asn)
7g.117592155C>GCA368979145CFTRc.1988C>G (p.Thr663Ser)
c.*1702C>G (n.*1702C>G)
c.1805C>G (p.Thr602Ser)
c.*288C>G (n.*288C>G)
c.*1812C>G (n.*1812C>G)
c.1562C>G (p.Thr521Ser)
c.1402-10671C>G (n.1402-10671C>G)
c.1898C>G (p.Thr633Ser)
c.2078C>G (p.Thr693Ser)
c.1745C>G (p.Thr582Ser)
7g.117592155C>TCA368979146CFTRc.1988C>T (p.Thr663Ile)
c.*1702C>T (n.*1702C>T)
c.1805C>T (p.Thr602Ile)
c.*288C>T (n.*288C>T)
c.*1812C>T (n.*1812C>T)
c.1562C>T (p.Thr521Ile)
c.1402-10671C>T (n.1402-10671C>T)
c.1898C>T (p.Thr633Ile)
c.2078C>T (p.Thr693Ile)
c.1745C>T (p.Thr582Ile)
7g.117592156T>ACA457448939CFTRc.1989T>A (p.Thr663=)
c.*1703T>A (n.*1703T>A)
c.1806T>A (p.Thr602=)
c.*289T>A (n.*289T>A)
c.*1813T>A (n.*1813T>A)
c.1563T>A (p.Thr521=)
c.1402-10670T>A (n.1402-10670T>A)
c.1899T>A (p.Thr633=)
c.2079T>A (p.Thr693=)
c.1746T>A (p.Thr582=)
7g.117592156T>CCA457448937CFTRc.1989T>C (p.Thr663=)
c.*1703T>C (n.*1703T>C)
c.1806T>C (p.Thr602=)
c.*289T>C (n.*289T>C)
c.*1813T>C (n.*1813T>C)
c.1563T>C (p.Thr521=)
c.1402-10670T>C (n.1402-10670T>C)
c.1899T>C (p.Thr633=)
c.2079T>C (p.Thr693=)
c.1746T>C (p.Thr582=)
 dbSNP
7g.117592156T>GCA457448934CFTRc.1989T>G (p.Thr663=)
c.*1703T>G (n.*1703T>G)
c.1806T>G (p.Thr602=)
c.*289T>G (n.*289T>G)
c.*1813T>G (n.*1813T>G)
c.1563T>G (p.Thr521=)
c.1402-10670T>G (n.1402-10670T>G)
c.1899T>G (p.Thr633=)
c.2079T>G (p.Thr693=)
c.1746T>G (p.Thr582=)
7g.117592156T=CA1737394398CFTRc.1989T= (p.Thr663=)
c.*1703T= (n.*1703T=)
c.1806T= (p.Thr602=)
c.*289T= (n.*289T=)
c.*1813T= (n.*1813T=)
c.1563T= (p.Thr521=)
c.1402-10670T= (n.1402-10670T=)
c.1899T= (p.Thr633=)
c.2079T= (p.Thr693=)
c.1746T= (p.Thr582=)
7g.117592157G>ACA368979147CFTRc.1990G>A (p.Glu664Lys)
c.*1704G>A (n.*1704G>A)
c.1807G>A (p.Glu603Lys)
c.*290G>A (n.*290G>A)
c.*1814G>A (n.*1814G>A)
c.1564G>A (p.Glu522Lys)
c.1402-10669G>A (n.1402-10669G>A)
c.1900G>A (p.Glu634Lys)
c.2080G>A (p.Glu694Lys)
c.1747G>A (p.Glu583Lys)
7g.117592157G>CCA368979148CFTRc.1990G>C (p.Glu664Gln)
c.*1704G>C (n.*1704G>C)
c.1807G>C (p.Glu603Gln)
c.*290G>C (n.*290G>C)
c.*1814G>C (n.*1814G>C)
c.1564G>C (p.Glu522Gln)
c.1402-10669G>C (n.1402-10669G>C)
c.1900G>C (p.Glu634Gln)
c.2080G>C (p.Glu694Gln)
c.1747G>C (p.Glu583Gln)
 ClinVar dbSNP
7g.117592157G=CA1737394406CFTRc.1990G= (p.Glu664=)
c.*1704G= (n.*1704G=)
c.1807G= (p.Glu603=)
c.*290G= (n.*290G=)
c.*1814G= (n.*1814G=)
c.1564G= (p.Glu522=)
c.1402-10669G= (n.1402-10669G=)
c.1900G= (p.Glu634=)
c.2080G= (p.Glu694=)
c.1747G= (p.Glu583=)
7g.117592157G>TCA326725CFTRc.1990G>T (p.Glu664Ter)
c.*1704G>T (n.*1704G>T)
c.1807G>T (p.Glu603Ter)
c.*290G>T (n.*290G>T)
c.*1814G>T (n.*1814G>T)
c.1564G>T (p.Glu522Ter)
c.1402-10669G>T (n.1402-10669G>T)
c.1900G>T (p.Glu634Ter)
c.2080G>T (p.Glu694Ter)
c.1747G>T (p.Glu583Ter)
 ClinVar dbSNP
7g.117592158A>CCA368979149CFTRc.1991A>C (p.Glu664Ala)
c.*1705A>C (n.*1705A>C)
c.1808A>C (p.Glu603Ala)
c.*291A>C (n.*291A>C)
c.*1815A>C (n.*1815A>C)
c.1565A>C (p.Glu522Ala)
c.1402-10668A>C (n.1402-10668A>C)
c.1901A>C (p.Glu634Ala)
c.2081A>C (p.Glu694Ala)
c.1748A>C (p.Glu583Ala)
7g.117592158A>GCA368979150CFTRc.1991A>G (p.Glu664Gly)
c.*1705A>G (n.*1705A>G)
c.1808A>G (p.Glu603Gly)
c.*291A>G (n.*291A>G)
c.*1815A>G (n.*1815A>G)
c.1565A>G (p.Glu522Gly)
c.1402-10668A>G (n.1402-10668A>G)
c.1901A>G (p.Glu634Gly)
c.2081A>G (p.Glu694Gly)
c.1748A>G (p.Glu583Gly)
7g.117592158A>TCA368979151CFTRc.1991A>T (p.Glu664Val)
c.*1705A>T (n.*1705A>T)
c.1808A>T (p.Glu603Val)
c.*291A>T (n.*291A>T)
c.*1815A>T (n.*1815A>T)
c.1565A>T (p.Glu522Val)
c.1402-10668A>T (n.1402-10668A>T)
c.1901A>T (p.Glu634Val)
c.2081A>T (p.Glu694Val)
c.1748A>T (p.Glu583Val)
7g.117592159G>ACA457448941CFTRc.1992G>A (p.Glu664=)
c.*1706G>A (n.*1706G>A)
c.1809G>A (p.Glu603=)
c.*292G>A (n.*292G>A)
c.*1816G>A (n.*1816G>A)
c.1566G>A (p.Glu522=)
c.1402-10667G>A (n.1402-10667G>A)
c.1902G>A (p.Glu634=)
c.2082G>A (p.Glu694=)
c.1749G>A (p.Glu583=)
7g.117592159G>CCA368979153CFTRc.1992G>C (p.Glu664Asp)
c.*1706G>C (n.*1706G>C)
c.1809G>C (p.Glu603Asp)
c.*292G>C (n.*292G>C)
c.*1816G>C (n.*1816G>C)
c.1566G>C (p.Glu522Asp)
c.1402-10667G>C (n.1402-10667G>C)
c.1902G>C (p.Glu634Asp)
c.2082G>C (p.Glu694Asp)
c.1749G>C (p.Glu583Asp)
7g.117592159G=CA1737394408CFTRc.1992G= (p.Glu664=)
c.*1706G= (n.*1706G=)
c.1809G= (p.Glu603=)
c.*292G= (n.*292G=)
c.*1816G= (n.*1816G=)
c.1566G= (p.Glu522=)
c.1402-10667G= (n.1402-10667G=)
c.1902G= (p.Glu634=)
c.2082G= (p.Glu694=)
c.1749G= (p.Glu583=)
7g.117592159G>TCA368979152CFTRc.1992G>T (p.Glu664Asp)
c.*1706G>T (n.*1706G>T)
c.1809G>T (p.Glu603Asp)
c.*292G>T (n.*292G>T)
c.*1816G>T (n.*1816G>T)
c.1566G>T (p.Glu522Asp)
c.1402-10667G>T (n.1402-10667G>T)
c.1902G>T (p.Glu634Asp)
c.2082G>T (p.Glu694Asp)
c.1749G>T (p.Glu583Asp)
 ClinVar dbSNP gnomAD v4
7g.117592160A=CA1737394414CFTRc.1993A= (p.Thr665=)
c.*1707A= (n.*1707A=)
c.1810A= (p.Thr604=)
c.*293A= (n.*293A=)
c.*1817A= (n.*1817A=)
c.1567A= (p.Thr523=)
c.1402-10666A= (n.1402-10666A=)
c.1903A= (p.Thr635=)
c.2083A= (p.Thr695=)
c.1750A= (p.Thr584=)
7g.117592160A>CCA368979154CFTRc.1993A>C (p.Thr665Pro)
c.*1707A>C (n.*1707A>C)
c.1810A>C (p.Thr604Pro)
c.*293A>C (n.*293A>C)
c.*1817A>C (n.*1817A>C)
c.1567A>C (p.Thr523Pro)
c.1402-10666A>C (n.1402-10666A>C)
c.1903A>C (p.Thr635Pro)
c.2083A>C (p.Thr695Pro)
c.1750A>C (p.Thr584Pro)
7g.117592160A>GCA368979155CFTRc.1993A>G (p.Thr665Ala)
c.*1707A>G (n.*1707A>G)
c.1810A>G (p.Thr604Ala)
c.*293A>G (n.*293A>G)
c.*1817A>G (n.*1817A>G)
c.1567A>G (p.Thr523Ala)
c.1402-10666A>G (n.1402-10666A>G)
c.1903A>G (p.Thr635Ala)
c.2083A>G (p.Thr695Ala)
c.1750A>G (p.Thr584Ala)
7g.117592160A>TCA368979156CFTRc.1993A>T (p.Thr665Ser)
c.*1707A>T (n.*1707A>T)
c.1810A>T (p.Thr604Ser)
c.*293A>T (n.*293A>T)
c.*1817A>T (n.*1817A>T)
c.1567A>T (p.Thr523Ser)
c.1402-10666A>T (n.1402-10666A>T)
c.1903A>T (p.Thr635Ser)
c.2083A>T (p.Thr695Ser)
c.1750A>T (p.Thr584Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117592161C>ACA368979157CFTRc.1994C>A (p.Thr665Asn)
c.*1708C>A (n.*1708C>A)
c.1811C>A (p.Thr604Asn)
c.*294C>A (n.*294C>A)
c.*1818C>A (n.*1818C>A)
c.1568C>A (p.Thr523Asn)
c.1402-10665C>A (n.1402-10665C>A)
c.1904C>A (p.Thr635Asn)
c.2084C>A (p.Thr695Asn)
c.1751C>A (p.Thr584Asn)
 dbSNP gnomAD v4
7g.117592161C=CA1737394418CFTRc.1994C= (p.Thr665=)
c.*1708C= (n.*1708C=)
c.1811C= (p.Thr604=)
c.*294C= (n.*294C=)
c.*1818C= (n.*1818C=)
c.1568C= (p.Thr523=)
c.1402-10665C= (n.1402-10665C=)
c.1904C= (p.Thr635=)
c.2084C= (p.Thr695=)
c.1751C= (p.Thr584=)
7g.117592161C>GCA368979158CFTRc.1994C>G (p.Thr665Ser)
c.*1708C>G (n.*1708C>G)
c.1811C>G (p.Thr604Ser)
c.*294C>G (n.*294C>G)
c.*1818C>G (n.*1818C>G)
c.1568C>G (p.Thr523Ser)
c.1402-10665C>G (n.1402-10665C>G)
c.1904C>G (p.Thr635Ser)
c.2084C>G (p.Thr695Ser)
c.1751C>G (p.Thr584Ser)
7g.117592161C>TCA368979159CFTRc.1994C>T (p.Thr665Ile)
c.*1708C>T (n.*1708C>T)
c.1811C>T (p.Thr604Ile)
c.*294C>T (n.*294C>T)
c.*1818C>T (n.*1818C>T)
c.1568C>T (p.Thr523Ile)
c.1402-10665C>T (n.1402-10665C>T)
c.1904C>T (p.Thr635Ile)
c.2084C>T (p.Thr695Ile)
c.1751C>T (p.Thr584Ile)
7g.117592162C>ACA457448946CFTRc.1995C>A (p.Thr665=)
c.*1709C>A (n.*1709C>A)
c.1812C>A (p.Thr604=)
c.*295C>A (n.*295C>A)
c.*1819C>A (n.*1819C>A)
c.1569C>A (p.Thr523=)
c.1402-10664C>A (n.1402-10664C>A)
c.1905C>A (p.Thr635=)
c.2085C>A (p.Thr695=)
c.1752C>A (p.Thr584=)
 ClinVar
7g.117592162C=CA1737394420CFTRc.1995C= (p.Thr665=)
c.*1709C= (n.*1709C=)
c.1812C= (p.Thr604=)
c.*295C= (n.*295C=)
c.*1819C= (n.*1819C=)
c.1569C= (p.Thr523=)
c.1402-10664C= (n.1402-10664C=)
c.1905C= (p.Thr635=)
c.2085C= (p.Thr695=)
c.1752C= (p.Thr584=)
7g.117592162C>GCA457448947CFTRc.1995C>G (p.Thr665=)
c.*1709C>G (n.*1709C>G)
c.1812C>G (p.Thr604=)
c.*295C>G (n.*295C>G)
c.*1819C>G (n.*1819C>G)
c.1569C>G (p.Thr523=)
c.1402-10664C>G (n.1402-10664C>G)
c.1905C>G (p.Thr635=)
c.2085C>G (p.Thr695=)
c.1752C>G (p.Thr584=)
 dbSNP
7g.117592162C>TCA457448948CFTRc.1995C>T (p.Thr665=)
c.*1709C>T (n.*1709C>T)
c.1812C>T (p.Thr604=)
c.*295C>T (n.*295C>T)
c.*1819C>T (n.*1819C>T)
c.1569C>T (p.Thr523=)
c.1402-10664C>T (n.1402-10664C>T)
c.1905C>T (p.Thr635=)
c.2085C>T (p.Thr695=)
c.1752C>T (p.Thr584=)
7g.117592163T>ACA368979160CFTRc.1996T>A (p.Leu666Ile)
c.*1710T>A (n.*1710T>A)
c.1813T>A (p.Leu605Ile)
c.*296T>A (n.*296T>A)
c.*1820T>A (n.*1820T>A)
c.1570T>A (p.Leu524Ile)
c.1402-10663T>A (n.1402-10663T>A)
c.1906T>A (p.Leu636Ile)
c.2086T>A (p.Leu696Ile)
c.1753T>A (p.Leu585Ile)
7g.117592163T>CCA457448949CFTRc.1996T>C (p.Leu666=)
c.*1710T>C (n.*1710T>C)
c.1813T>C (p.Leu605=)
c.*296T>C (n.*296T>C)
c.*1820T>C (n.*1820T>C)
c.1570T>C (p.Leu524=)
c.1402-10663T>C (n.1402-10663T>C)
c.1906T>C (p.Leu636=)
c.2086T>C (p.Leu696=)
c.1753T>C (p.Leu585=)
7g.117592163T>GCA368979161CFTRc.1996T>G (p.Leu666Val)
c.*1710T>G (n.*1710T>G)
c.1813T>G (p.Leu605Val)
c.*296T>G (n.*296T>G)
c.*1820T>G (n.*1820T>G)
c.1570T>G (p.Leu524Val)
c.1402-10663T>G (n.1402-10663T>G)
c.1906T>G (p.Leu636Val)
c.2086T>G (p.Leu696Val)
c.1753T>G (p.Leu585Val)
7g.117592164T>ACA368979162CFTRc.1997T>A (p.Leu666Ter)
c.*1711T>A (n.*1711T>A)
c.1814T>A (p.Leu605Ter)
c.*297T>A (n.*297T>A)
c.*1821T>A (n.*1821T>A)
c.1571T>A (p.Leu524Ter)
c.1402-10662T>A (n.1402-10662T>A)
c.1907T>A (p.Leu636Ter)
c.2087T>A (p.Leu696Ter)
c.1754T>A (p.Leu585Ter)
 ClinVar dbSNP
7g.117592164T>CCA368979163CFTRc.1997T>C (p.Leu666Ser)
c.*1711T>C (n.*1711T>C)
c.1814T>C (p.Leu605Ser)
c.*297T>C (n.*297T>C)
c.*1821T>C (n.*1821T>C)
c.1571T>C (p.Leu524Ser)
c.1402-10662T>C (n.1402-10662T>C)
c.1907T>C (p.Leu636Ser)
c.2087T>C (p.Leu696Ser)
c.1754T>C (p.Leu585Ser)
7g.117592164T>GCA368979164CFTRc.1997T>G (p.Leu666Ter)
c.*1711T>G (n.*1711T>G)
c.1814T>G (p.Leu605Ter)
c.*297T>G (n.*297T>G)
c.*1821T>G (n.*1821T>G)
c.1571T>G (p.Leu524Ter)
c.1402-10662T>G (n.1402-10662T>G)
c.1907T>G (p.Leu636Ter)
c.2087T>G (p.Leu696Ter)
c.1754T>G (p.Leu585Ter)
 COSMIC
7g.117592164T=CA1737394424CFTRc.1997T= (p.Leu666=)
c.*1711T= (n.*1711T=)
c.1814T= (p.Leu605=)
c.*297T= (n.*297T=)
c.*1821T= (n.*1821T=)
c.1571T= (p.Leu524=)
c.1402-10662T= (n.1402-10662T=)
c.1907T= (p.Leu636=)
c.2087T= (p.Leu696=)
c.1754T= (p.Leu585=)
7g.117592165A>CCA368979165CFTRc.1998A>C (p.Leu666Phe)
c.*1712A>C (n.*1712A>C)
c.1815A>C (p.Leu605Phe)
c.*298A>C (n.*298A>C)
c.*1822A>C (n.*1822A>C)
c.1572A>C (p.Leu524Phe)
c.1402-10661A>C (n.1402-10661A>C)
c.1908A>C (p.Leu636Phe)
c.2088A>C (p.Leu696Phe)
c.1755A>C (p.Leu585Phe)
7g.117592165A>GCA457448951CFTRc.1998A>G (p.Leu666=)
c.*1712A>G (n.*1712A>G)
c.1815A>G (p.Leu605=)
c.*298A>G (n.*298A>G)
c.*1822A>G (n.*1822A>G)
c.1572A>G (p.Leu524=)
c.1402-10661A>G (n.1402-10661A>G)
c.1908A>G (p.Leu636=)
c.2088A>G (p.Leu696=)
c.1755A>G (p.Leu585=)
7g.117592165A>TCA368979166CFTRc.1998A>T (p.Leu666Phe)
c.*1712A>T (n.*1712A>T)
c.1815A>T (p.Leu605Phe)
c.*298A>T (n.*298A>T)
c.*1822A>T (n.*1822A>T)
c.1572A>T (p.Leu524Phe)
c.1402-10661A>T (n.1402-10661A>T)
c.1908A>T (p.Leu636Phe)
c.2088A>T (p.Leu696Phe)
c.1755A>T (p.Leu585Phe)
 ClinVar
7g.117592166C>ACA368979169CFTRc.1999C>A (p.His667Asn)
c.*1713C>A (n.*1713C>A)
c.1816C>A (p.His606Asn)
c.*299C>A (n.*299C>A)
c.*1823C>A (n.*1823C>A)
c.1573C>A (p.His525Asn)
c.1402-10660C>A (n.1402-10660C>A)
c.1909C>A (p.His637Asn)
c.2089C>A (p.His697Asn)
c.1756C>A (p.His586Asn)
7g.117592166C=CA1737394427CFTRc.1999C= (p.His667=)
c.*1713C= (n.*1713C=)
c.1816C= (p.His606=)
c.*299C= (n.*299C=)
c.*1823C= (n.*1823C=)
c.1573C= (p.His525=)
c.1402-10660C= (n.1402-10660C=)
c.1909C= (p.His637=)
c.2089C= (p.His697=)
c.1756C= (p.His586=)
7g.117592166C>GCA368979168CFTRc.1999C>G (p.His667Asp)
c.*1713C>G (n.*1713C>G)
c.1816C>G (p.His606Asp)
c.*299C>G (n.*299C>G)
c.*1823C>G (n.*1823C>G)
c.1573C>G (p.His525Asp)
c.1402-10660C>G (n.1402-10660C>G)
c.1909C>G (p.His637Asp)
c.2089C>G (p.His697Asp)
c.1756C>G (p.His586Asp)
7g.117592166C>TCA368979167CFTRc.1999C>T (p.His667Tyr)
c.*1713C>T (n.*1713C>T)
c.1816C>T (p.His606Tyr)
c.*299C>T (n.*299C>T)
c.*1823C>T (n.*1823C>T)
c.1573C>T (p.His525Tyr)
c.1402-10660C>T (n.1402-10660C>T)
c.1909C>T (p.His637Tyr)
c.2089C>T (p.His697Tyr)
c.1756C>T (p.His586Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117592167A=CA1737394432CFTRc.2000A= (p.His667=)
c.*1714A= (n.*1714A=)
c.1817A= (p.His606=)
c.*300A= (n.*300A=)
c.*1824A= (n.*1824A=)
c.1574A= (p.His525=)
c.1402-10659A= (n.1402-10659A=)
c.1910A= (p.His637=)
c.2090A= (p.His697=)
c.1757A= (p.His586=)
7g.117592167A>CCA368979170CFTRc.2000A>C (p.His667Pro)
c.*1714A>C (n.*1714A>C)
c.1817A>C (p.His606Pro)
c.*300A>C (n.*300A>C)
c.*1824A>C (n.*1824A>C)
c.1574A>C (p.His525Pro)
c.1402-10659A>C (n.1402-10659A>C)
c.1910A>C (p.His637Pro)
c.2090A>C (p.His697Pro)
c.1757A>C (p.His586Pro)
7g.117592167A>GCA368979171CFTRc.2000A>G (p.His667Arg)
c.*1714A>G (n.*1714A>G)
c.1817A>G (p.His606Arg)
c.*300A>G (n.*300A>G)
c.*1824A>G (n.*1824A>G)
c.1574A>G (p.His525Arg)
c.1402-10659A>G (n.1402-10659A>G)
c.1910A>G (p.His637Arg)
c.2090A>G (p.His697Arg)
c.1757A>G (p.His586Arg)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
7g.117592167A>TCA368979172CFTRc.2000A>T (p.His667Leu)
c.*1714A>T (n.*1714A>T)
c.1817A>T (p.His606Leu)
c.*300A>T (n.*300A>T)
c.*1824A>T (n.*1824A>T)
c.1574A>T (p.His525Leu)
c.1402-10659A>T (n.1402-10659A>T)
c.1910A>T (p.His637Leu)
c.2090A>T (p.His697Leu)
c.1757A>T (p.His586Leu)
7g.117592168C>ACA368979173CFTRc.2001C>A (p.His667Gln)
c.*1715C>A (n.*1715C>A)
c.1818C>A (p.His606Gln)
c.*301C>A (n.*301C>A)
c.*1825C>A (n.*1825C>A)
c.1575C>A (p.His525Gln)
c.1402-10658C>A (n.1402-10658C>A)
c.1911C>A (p.His637Gln)
c.2091C>A (p.His697Gln)
c.1758C>A (p.His586Gln)
7g.117592168C=CA1737394435CFTRc.2001C= (p.His667=)
c.*1715C= (n.*1715C=)
c.1818C= (p.His606=)
c.*301C= (n.*301C=)
c.*1825C= (n.*1825C=)
c.1575C= (p.His525=)
c.1402-10658C= (n.1402-10658C=)
c.1911C= (p.His637=)
c.2091C= (p.His697=)
c.1758C= (p.His586=)
7g.117592168C>GCA368979174CFTRc.2001C>G (p.His667Gln)
c.*1715C>G (n.*1715C>G)
c.1818C>G (p.His606Gln)
c.*301C>G (n.*301C>G)
c.*1825C>G (n.*1825C>G)
c.1575C>G (p.His525Gln)
c.1402-10658C>G (n.1402-10658C>G)
c.1911C>G (p.His637Gln)
c.2091C>G (p.His697Gln)
c.1758C>G (p.His586Gln)
7g.117592168C>TCA4451124CFTRc.2001C>T (p.His667=)
c.*1715C>T (n.*1715C>T)
c.1818C>T (p.His606=)
c.*301C>T (n.*301C>T)
c.*1825C>T (n.*1825C>T)
c.1575C>T (p.His525=)
c.1402-10658C>T (n.1402-10658C>T)
c.1911C>T (p.His637=)
c.2091C>T (p.His697=)
c.1758C>T (p.His586=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592169C>ACA368979176CFTRc.2002C>A (p.Arg668Ser)
c.*1716C>A (n.*1716C>A)
c.1819C>A (p.Arg607Ser)
c.*302C>A (n.*302C>A)
c.*1826C>A (n.*1826C>A)
c.1576C>A (p.Arg526Ser)
c.1402-10657C>A (n.1402-10657C>A)
c.1912C>A (p.Arg638Ser)
c.2092C>A (p.Arg698Ser)
c.1759C>A (p.Arg587Ser)
 dbSNP
7g.117592169C=CA1737394439CFTRc.2002C= (p.Arg668=)
c.*1716C= (n.*1716C=)
c.1819C= (p.Arg607=)
c.*302C= (n.*302C=)
c.*1826C= (n.*1826C=)
c.1576C= (p.Arg526=)
c.1402-10657C= (n.1402-10657C=)
c.1912C= (p.Arg638=)
c.2092C= (p.Arg698=)
c.1759C= (p.Arg587=)
7g.117592169C>GCA368979175CFTRc.2002C>G (p.Arg668Gly)
c.*1716C>G (n.*1716C>G)
c.1819C>G (p.Arg607Gly)
c.*302C>G (n.*302C>G)
c.*1826C>G (n.*1826C>G)
c.1576C>G (p.Arg526Gly)
c.1402-10657C>G (n.1402-10657C>G)
c.1912C>G (p.Arg638Gly)
c.2092C>G (p.Arg698Gly)
c.1759C>G (p.Arg587Gly)
7g.117592169C>TCA182840CFTRc.2002C>T (p.Arg668Cys)
c.*1716C>T (n.*1716C>T)
c.1819C>T (p.Arg607Cys)
c.*302C>T (n.*302C>T)
c.*1826C>T (n.*1826C>T)
c.1576C>T (p.Arg526Cys)
c.1402-10657C>T (n.1402-10657C>T)
c.1912C>T (p.Arg638Cys)
c.2092C>T (p.Arg698Cys)
c.1759C>T (p.Arg587Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592170G>ACA4451125CFTRc.2003G>A (p.Arg668His)
c.*1717G>A (n.*1717G>A)
c.1820G>A (p.Arg607His)
c.*303G>A (n.*303G>A)
c.*1827G>A (n.*1827G>A)
c.1577G>A (p.Arg526His)
c.1402-10656G>A (n.1402-10656G>A)
c.1913G>A (p.Arg638His)
c.2093G>A (p.Arg698His)
c.1760G>A (p.Arg587His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592170G>CCA368979177CFTRc.2003G>C (p.Arg668Pro)
c.*1717G>C (n.*1717G>C)
c.1820G>C (p.Arg607Pro)
c.*303G>C (n.*303G>C)
c.*1827G>C (n.*1827G>C)
c.1577G>C (p.Arg526Pro)
c.1402-10656G>C (n.1402-10656G>C)
c.1913G>C (p.Arg638Pro)
c.2093G>C (p.Arg698Pro)
c.1760G>C (p.Arg587Pro)
7g.117592170G=CA1737394444CFTRc.2003G= (p.Arg668=)
c.*1717G= (n.*1717G=)
c.1820G= (p.Arg607=)
c.*303G= (n.*303G=)
c.*1827G= (n.*1827G=)
c.1577G= (p.Arg526=)
c.1402-10656G= (n.1402-10656G=)
c.1913G= (p.Arg638=)
c.2093G= (p.Arg698=)
c.1760G= (p.Arg587=)
7g.117592170G>TCA164947672CFTRc.2003G>T (p.Arg668Leu)
c.*1717G>T (n.*1717G>T)
c.1820G>T (p.Arg607Leu)
c.*303G>T (n.*303G>T)
c.*1827G>T (n.*1827G>T)
c.1577G>T (p.Arg526Leu)
c.1402-10656G>T (n.1402-10656G>T)
c.1913G>T (p.Arg638Leu)
c.2093G>T (p.Arg698Leu)
c.1760G>T (p.Arg587Leu)
 dbSNP gnomAD v4
7g.117592171T>ACA457448954CFTRc.2004T>A (p.Arg668=)
c.*1718T>A (n.*1718T>A)
c.1821T>A (p.Arg607=)
c.*304T>A (n.*304T>A)
c.*1828T>A (n.*1828T>A)
c.1578T>A (p.Arg526=)
c.1402-10655T>A (n.1402-10655T>A)
c.1914T>A (p.Arg638=)
c.2094T>A (p.Arg698=)
c.1761T>A (p.Arg587=)
7g.117592171T>CCA457448955CFTRc.2004T>C (p.Arg668=)
c.*1718T>C (n.*1718T>C)
c.1821T>C (p.Arg607=)
c.*304T>C (n.*304T>C)
c.*1828T>C (n.*1828T>C)
c.1578T>C (p.Arg526=)
c.1402-10655T>C (n.1402-10655T>C)
c.1914T>C (p.Arg638=)
c.2094T>C (p.Arg698=)
c.1761T>C (p.Arg587=)
 dbSNP
7g.117592171T>GCA457448956CFTRc.2004T>G (p.Arg668=)
c.*1718T>G (n.*1718T>G)
c.1821T>G (p.Arg607=)
c.*304T>G (n.*304T>G)
c.*1828T>G (n.*1828T>G)
c.1578T>G (p.Arg526=)
c.1402-10655T>G (n.1402-10655T>G)
c.1914T>G (p.Arg638=)
c.2094T>G (p.Arg698=)
c.1761T>G (p.Arg587=)
7g.117592171T=CA1737394450CFTRc.2004T= (p.Arg668=)
c.*1718T= (n.*1718T=)
c.1821T= (p.Arg607=)
c.*304T= (n.*304T=)
c.*1828T= (n.*1828T=)
c.1578T= (p.Arg526=)
c.1402-10655T= (n.1402-10655T=)
c.1914T= (p.Arg638=)
c.2094T= (p.Arg698=)
c.1761T= (p.Arg587=)
7g.117592172T>ACA368979178CFTRc.2005T>A (p.Phe669Ile)
c.*1719T>A (n.*1719T>A)
c.1822T>A (p.Phe608Ile)
c.*305T>A (n.*305T>A)
c.*1829T>A (n.*1829T>A)
c.1579T>A (p.Phe527Ile)
c.1402-10654T>A (n.1402-10654T>A)
c.1915T>A (p.Phe639Ile)
c.2095T>A (p.Phe699Ile)
c.1762T>A (p.Phe588Ile)
7g.117592172T>CCA368979179CFTRc.2005T>C (p.Phe669Leu)
c.*1719T>C (n.*1719T>C)
c.1822T>C (p.Phe608Leu)
c.*305T>C (n.*305T>C)
c.*1829T>C (n.*1829T>C)
c.1579T>C (p.Phe527Leu)
c.1402-10654T>C (n.1402-10654T>C)
c.1915T>C (p.Phe639Leu)
c.2095T>C (p.Phe699Leu)
c.1762T>C (p.Phe588Leu)
 ClinVar dbSNP gnomAD v4
7g.117592172T>GCA368979180CFTRc.2005T>G (p.Phe669Val)
c.*1719T>G (n.*1719T>G)
c.1822T>G (p.Phe608Val)
c.*305T>G (n.*305T>G)
c.*1829T>G (n.*1829T>G)
c.1579T>G (p.Phe527Val)
c.1402-10654T>G (n.1402-10654T>G)
c.1915T>G (p.Phe639Val)
c.2095T>G (p.Phe699Val)
c.1762T>G (p.Phe588Val)
7g.117592173T>ACA368979181CFTRc.2006T>A (p.Phe669Tyr)
c.*1720T>A (n.*1720T>A)
c.1823T>A (p.Phe608Tyr)
c.*306T>A (n.*306T>A)
c.*1830T>A (n.*1830T>A)
c.1580T>A (p.Phe527Tyr)
c.1402-10653T>A (n.1402-10653T>A)
c.1916T>A (p.Phe639Tyr)
c.2096T>A (p.Phe699Tyr)
c.1763T>A (p.Phe588Tyr)
7g.117592173T>CCA368979183CFTRc.2006T>C (p.Phe669Ser)
c.*1720T>C (n.*1720T>C)
c.1823T>C (p.Phe608Ser)
c.*306T>C (n.*306T>C)
c.*1830T>C (n.*1830T>C)
c.1580T>C (p.Phe527Ser)
c.1402-10653T>C (n.1402-10653T>C)
c.1916T>C (p.Phe639Ser)
c.2096T>C (p.Phe699Ser)
c.1763T>C (p.Phe588Ser)
7g.117592173T>GCA368979182CFTRc.2006T>G (p.Phe669Cys)
c.*1720T>G (n.*1720T>G)
c.1823T>G (p.Phe608Cys)
c.*306T>G (n.*306T>G)
c.*1830T>G (n.*1830T>G)
c.1580T>G (p.Phe527Cys)
c.1402-10653T>G (n.1402-10653T>G)
c.1916T>G (p.Phe639Cys)
c.2096T>G (p.Phe699Cys)
c.1763T>G (p.Phe588Cys)
7g.117592174C>ACA368979190CFTRc.2007C>A (p.Phe669Leu)
c.*1721C>A (n.*1721C>A)
c.1824C>A (p.Phe608Leu)
c.*307C>A (n.*307C>A)
c.*1831C>A (n.*1831C>A)
c.1581C>A (p.Phe527Leu)
c.1402-10652C>A (n.1402-10652C>A)
c.1917C>A (p.Phe639Leu)
c.2097C>A (p.Phe699Leu)
c.1764C>A (p.Phe588Leu)
7g.117592174C=CA1737394454CFTRc.2007C= (p.Phe669=)
c.*1721C= (n.*1721C=)
c.1824C= (p.Phe608=)
c.*307C= (n.*307C=)
c.*1831C= (n.*1831C=)
c.1581C= (p.Phe527=)
c.1402-10652C= (n.1402-10652C=)
c.1917C= (p.Phe639=)
c.2097C= (p.Phe699=)
c.1764C= (p.Phe588=)
7g.117592174C>GCA368979192CFTRc.2007C>G (p.Phe669Leu)
c.*1721C>G (n.*1721C>G)
c.1824C>G (p.Phe608Leu)
c.*307C>G (n.*307C>G)
c.*1831C>G (n.*1831C>G)
c.1581C>G (p.Phe527Leu)
c.1402-10652C>G (n.1402-10652C>G)
c.1917C>G (p.Phe639Leu)
c.2097C>G (p.Phe699Leu)
c.1764C>G (p.Phe588Leu)
7g.117592174C>TCA164947676CFTRc.2007C>T (p.Phe669=)
c.*1721C>T (n.*1721C>T)
c.1824C>T (p.Phe608=)
c.*307C>T (n.*307C>T)
c.*1831C>T (n.*1831C>T)
c.1581C>T (p.Phe527=)
c.1402-10652C>T (n.1402-10652C>T)
c.1917C>T (p.Phe639=)
c.2097C>T (p.Phe699=)
c.1764C>T (p.Phe588=)
 ClinVar dbSNP gnomAD v4
7g.117592175T>ACA368979194CFTRc.2008T>A (p.Ser670Thr)
c.*1722T>A (n.*1722T>A)
c.1825T>A (p.Ser609Thr)
c.*308T>A (n.*308T>A)
c.*1832T>A (n.*1832T>A)
c.1582T>A (p.Ser528Thr)
c.1402-10651T>A (n.1402-10651T>A)
c.1918T>A (p.Ser640Thr)
c.2098T>A (p.Ser700Thr)
c.1765T>A (p.Ser589Thr)
7g.117592175T>CCA368979196CFTRc.2008T>C (p.Ser670Pro)
c.*1722T>C (n.*1722T>C)
c.1825T>C (p.Ser609Pro)
c.*308T>C (n.*308T>C)
c.*1832T>C (n.*1832T>C)
c.1582T>C (p.Ser528Pro)
c.1402-10651T>C (n.1402-10651T>C)
c.1918T>C (p.Ser640Pro)
c.2098T>C (p.Ser700Pro)
c.1765T>C (p.Ser589Pro)
7g.117592175T>GCA368979200CFTRc.2008T>G (p.Ser670Ala)
c.*1722T>G (n.*1722T>G)
c.1825T>G (p.Ser609Ala)
c.*308T>G (n.*308T>G)
c.*1832T>G (n.*1832T>G)
c.1582T>G (p.Ser528Ala)
c.1402-10651T>G (n.1402-10651T>G)
c.1918T>G (p.Ser640Ala)
c.2098T>G (p.Ser700Ala)
c.1765T>G (p.Ser589Ala)
 COSMIC
7g.117592176C>ACA368979203CFTRc.2009C>A (p.Ser670Ter)
c.*1723C>A (n.*1723C>A)
c.1826C>A (p.Ser609Ter)
c.*309C>A (n.*309C>A)
c.*1833C>A (n.*1833C>A)
c.1583C>A (p.Ser528Ter)
c.1402-10650C>A (n.1402-10650C>A)
c.1919C>A (p.Ser640Ter)
c.2099C>A (p.Ser700Ter)
c.1766C>A (p.Ser589Ter)
7g.117592176C=CA1737394457CFTRc.2009C= (p.Ser670=)
c.*1723C= (n.*1723C=)
c.1826C= (p.Ser609=)
c.*309C= (n.*309C=)
c.*1833C= (n.*1833C=)
c.1583C= (p.Ser528=)
c.1402-10650C= (n.1402-10650C=)
c.1919C= (p.Ser640=)
c.2099C= (p.Ser700=)
c.1766C= (p.Ser589=)
7g.117592176C>GCA368979205CFTRc.2009C>G (p.Ser670Ter)
c.*1723C>G (n.*1723C>G)
c.1826C>G (p.Ser609Ter)
c.*309C>G (n.*309C>G)
c.*1833C>G (n.*1833C>G)
c.1583C>G (p.Ser528Ter)
c.1402-10650C>G (n.1402-10650C>G)
c.1919C>G (p.Ser640Ter)
c.2099C>G (p.Ser700Ter)
c.1766C>G (p.Ser589Ter)
7g.117592176C>TCA368979208CFTRc.2009C>T (p.Ser670Leu)
c.*1723C>T (n.*1723C>T)
c.1826C>T (p.Ser609Leu)
c.*309C>T (n.*309C>T)
c.*1833C>T (n.*1833C>T)
c.1583C>T (p.Ser528Leu)
c.1402-10650C>T (n.1402-10650C>T)
c.1919C>T (p.Ser640Leu)
c.2099C>T (p.Ser700Leu)
c.1766C>T (p.Ser589Leu)
 ClinVar
7g.117592177A>CCA457448995CFTRc.2010A>C (p.Ser670=)
c.*1724A>C (n.*1724A>C)
c.1827A>C (p.Ser609=)
c.*310A>C (n.*310A>C)
c.*1834A>C (n.*1834A>C)
c.1584A>C (p.Ser528=)
c.1402-10649A>C (n.1402-10649A>C)
c.1920A>C (p.Ser640=)
c.2100A>C (p.Ser700=)
c.1767A>C (p.Ser589=)
 ClinVar
7g.117592177A>GCA457448994CFTRc.2010A>G (p.Ser670=)
c.*1724A>G (n.*1724A>G)
c.1827A>G (p.Ser609=)
c.*310A>G (n.*310A>G)
c.*1834A>G (n.*1834A>G)
c.1584A>G (p.Ser528=)
c.1402-10649A>G (n.1402-10649A>G)
c.1920A>G (p.Ser640=)
c.2100A>G (p.Ser700=)
c.1767A>G (p.Ser589=)
7g.117592177A>TCA457448993CFTRc.2010A>T (p.Ser670=)
c.*1724A>T (n.*1724A>T)
c.1827A>T (p.Ser609=)
c.*310A>T (n.*310A>T)
c.*1834A>T (n.*1834A>T)
c.1584A>T (p.Ser528=)
c.1402-10649A>T (n.1402-10649A>T)
c.1920A>T (p.Ser640=)
c.2100A>T (p.Ser700=)
c.1767A>T (p.Ser589=)
7g.117592177dupCA326727CFTRc.2010dup (p.Leu671IlefsTer18)
c.*1724dup (n.*1724dup)
c.1827dup (p.Leu610IlefsTer18)
c.*310dup (n.*310dup)
c.*1834dup (n.*1834dup)
c.1584dup (p.Leu529IlefsTer18)
c.1402-10649dup (n.1402-10649dup)
c.1920dup (p.Leu641IlefsTer18)
c.2100dup (p.Leu701IlefsTer18)
c.1767dup (p.Leu590IlefsTer18)
 dbSNP
7g.117592177_117592178delinsATCA1737394460CFTRc.2010_2011delinsAT (p.Ser670=)
c.*1724_*1725delinsAT (n.*1724_*1725delinsAT)
c.1827_1828delinsAT (p.Ser609=)
c.*310_*311delinsAT (n.*310_*311delinsAT)
c.*1834_*1835delinsAT (n.*1834_*1835delinsAT)
c.1584_1585delinsAT (p.Ser528=)
c.1402-10649_1402-10648delinsAT (n.1402-10649_1402-10648delinsAT)
c.1920_1921delinsAT (p.Ser640=)
c.2100_2101delinsAT (p.Ser700=)
c.1767_1768delinsAT (p.Ser589=)
7g.117592178T>ACA368979209CFTRc.2011T>A (p.Leu671Ile)
c.*1725T>A (n.*1725T>A)
c.1828T>A (p.Leu610Ile)
c.*311T>A (n.*311T>A)
c.*1835T>A (n.*1835T>A)
c.1585T>A (p.Leu529Ile)
c.1402-10648T>A (n.1402-10648T>A)
c.1921T>A (p.Leu641Ile)
c.2101T>A (p.Leu701Ile)
c.1768T>A (p.Leu590Ile)
7g.117592178T>CCA457448996CFTRc.2011T>C (p.Leu671=)
c.*1725T>C (n.*1725T>C)
c.1828T>C (p.Leu610=)
c.*311T>C (n.*311T>C)
c.*1835T>C (n.*1835T>C)
c.1585T>C (p.Leu529=)
c.1402-10648T>C (n.1402-10648T>C)
c.1921T>C (p.Leu641=)
c.2101T>C (p.Leu701=)
c.1768T>C (p.Leu590=)
7g.117592178T>GCA368979211CFTRc.2011T>G (p.Leu671Val)
c.*1725T>G (n.*1725T>G)
c.1828T>G (p.Leu610Val)
c.*311T>G (n.*311T>G)
c.*1835T>G (n.*1835T>G)
c.1585T>G (p.Leu529Val)
c.1402-10648T>G (n.1402-10648T>G)
c.1921T>G (p.Leu641Val)
c.2101T>G (p.Leu701Val)
c.1768T>G (p.Leu590Val)
7g.117592179delCA342837CFTRc.2012del (p.Leu671Ter)
c.*1726del (n.*1726del)
c.1829del (p.Leu610Ter)
c.*312del (n.*312del)
c.*1836del (n.*1836del)
c.1586del (p.Leu529Ter)
c.1402-10647del (n.1402-10647del)
c.1922del (p.Leu641Ter)
c.2102del (p.Leu701Ter)
c.1769del (p.Leu590Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592179T>ACA368979220CFTRc.2012T>A (p.Leu671Ter)
c.*1726T>A (n.*1726T>A)
c.1829T>A (p.Leu610Ter)
c.*312T>A (n.*312T>A)
c.*1836T>A (n.*1836T>A)
c.1586T>A (p.Leu529Ter)
c.1402-10647T>A (n.1402-10647T>A)
c.1922T>A (p.Leu641Ter)
c.2102T>A (p.Leu701Ter)
c.1769T>A (p.Leu590Ter)
 ClinVar dbSNP
7g.117592179T>CCA368979218CFTRc.2012T>C (p.Leu671Ser)
c.*1726T>C (n.*1726T>C)
c.1829T>C (p.Leu610Ser)
c.*312T>C (n.*312T>C)
c.*1836T>C (n.*1836T>C)
c.1586T>C (p.Leu529Ser)
c.1402-10647T>C (n.1402-10647T>C)
c.1922T>C (p.Leu641Ser)
c.2102T>C (p.Leu701Ser)
c.1769T>C (p.Leu590Ser)
 COSMIC
7g.117592179T>GCA368979222CFTRc.2012T>G (p.Leu671Ter)
c.*1726T>G (n.*1726T>G)
c.1829T>G (p.Leu610Ter)
c.*312T>G (n.*312T>G)
c.*1836T>G (n.*1836T>G)
c.1586T>G (p.Leu529Ter)
c.1402-10647T>G (n.1402-10647T>G)
c.1922T>G (p.Leu641Ter)
c.2102T>G (p.Leu701Ter)
c.1769T>G (p.Leu590Ter)
7g.117592179_117592182delinsTAGACA1737394470CFTRc.2012_2015delinsTAGA (p.Leu671=)
c.*1726_*1729delinsTAGA (n.*1726_*1729delinsTAGA)
c.1829_1832delinsTAGA (p.Leu610=)
c.*312_*315delinsTAGA (n.*312_*315delinsTAGA)
c.*1836_*1839delinsTAGA (n.*1836_*1839delinsTAGA)
c.1586_1589delinsTAGA (p.Leu529=)
c.1402-10647_1402-10644delinsTAGA (n.1402-10647_1402-10644delinsTAGA)
c.1922_1925delinsTAGA (p.Leu641=)
c.2102_2105delinsTAGA (p.Leu701=)
c.1769_1772delinsTAGA (p.Leu590=)
7g.117592180A>CCA368979228CFTRc.2013A>C (p.Leu671Phe)
c.*1727A>C (n.*1727A>C)
c.1830A>C (p.Leu610Phe)
c.*313A>C (n.*313A>C)
c.*1837A>C (n.*1837A>C)
c.1587A>C (p.Leu529Phe)
c.1402-10646A>C (n.1402-10646A>C)
c.1923A>C (p.Leu641Phe)
c.2103A>C (p.Leu701Phe)
c.1770A>C (p.Leu590Phe)
7g.117592180A>GCA457448997CFTRc.2013A>G (p.Leu671=)
c.*1727A>G (n.*1727A>G)
c.1830A>G (p.Leu610=)
c.*313A>G (n.*313A>G)
c.*1837A>G (n.*1837A>G)
c.1587A>G (p.Leu529=)
c.1402-10646A>G (n.1402-10646A>G)
c.1923A>G (p.Leu641=)
c.2103A>G (p.Leu701=)
c.1770A>G (p.Leu590=)
 gnomAD v4
7g.117592180A>TCA368979226CFTRc.2013A>T (p.Leu671Phe)
c.*1727A>T (n.*1727A>T)
c.1830A>T (p.Leu610Phe)
c.*313A>T (n.*313A>T)
c.*1837A>T (n.*1837A>T)
c.1587A>T (p.Leu529Phe)
c.1402-10646A>T (n.1402-10646A>T)
c.1923A>T (p.Leu641Phe)
c.2103A>T (p.Leu701Phe)
c.1770A>T (p.Leu590Phe)
7g.117592182_117592184delCA326728CFTRc.2015_2017del (p.Glu672del)
c.*1729_*1731del (n.*1729_*1731del)
c.1832_1834del (p.Glu611del)
c.*315_*317del (n.*315_*317del)
c.*1839_*1841del (n.*1839_*1841del)
c.1589_1591del (p.Glu530del)
c.1402-10644_1402-10642del (n.1402-10644_1402-10642del)
c.1925_1927del (p.Glu642del)
c.2105_2107del (p.Glu702del)
c.1772_1774del (p.Glu591del)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117592181G>ACA4451126CFTRc.2014G>A (p.Glu672Lys)
c.*1728G>A (n.*1728G>A)
c.1831G>A (p.Glu611Lys)
c.*314G>A (n.*314G>A)
c.*1838G>A (n.*1838G>A)
c.1588G>A (p.Glu530Lys)
c.1402-10645G>A (n.1402-10645G>A)
c.1924G>A (p.Glu642Lys)
c.2104G>A (p.Glu702Lys)
c.1771G>A (p.Glu591Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592181G>CCA368979232CFTRc.2014G>C (p.Glu672Gln)
c.*1728G>C (n.*1728G>C)
c.1831G>C (p.Glu611Gln)
c.*314G>C (n.*314G>C)
c.*1838G>C (n.*1838G>C)
c.1588G>C (p.Glu530Gln)
c.1402-10645G>C (n.1402-10645G>C)
c.1924G>C (p.Glu642Gln)
c.2104G>C (p.Glu702Gln)
c.1771G>C (p.Glu591Gln)
7g.117592181G=CA1737394477CFTRc.2014G= (p.Glu672=)
c.*1728G= (n.*1728G=)
c.1831G= (p.Glu611=)
c.*314G= (n.*314G=)
c.*1838G= (n.*1838G=)
c.1588G= (p.Glu530=)
c.1402-10645G= (n.1402-10645G=)
c.1924G= (p.Glu642=)
c.2104G= (p.Glu702=)
c.1771G= (p.Glu591=)
7g.117592181G>TCA368979234CFTRc.2014G>T (p.Glu672Ter)
c.*1728G>T (n.*1728G>T)
c.1831G>T (p.Glu611Ter)
c.*314G>T (n.*314G>T)
c.*1838G>T (n.*1838G>T)
c.1588G>T (p.Glu530Ter)
c.1402-10645G>T (n.1402-10645G>T)
c.1924G>T (p.Glu642Ter)
c.2104G>T (p.Glu702Ter)
c.1771G>T (p.Glu591Ter)
7g.117592182A>CCA368979238CFTRc.2015A>C (p.Glu672Ala)
c.*1729A>C (n.*1729A>C)
c.1832A>C (p.Glu611Ala)
c.*315A>C (n.*315A>C)
c.*1839A>C (n.*1839A>C)
c.1589A>C (p.Glu530Ala)
c.1402-10644A>C (n.1402-10644A>C)
c.1925A>C (p.Glu642Ala)
c.2105A>C (p.Glu702Ala)
c.1772A>C (p.Glu591Ala)
 gnomAD v4
7g.117592182A>GCA368979240CFTRc.2015A>G (p.Glu672Gly)
c.*1729A>G (n.*1729A>G)
c.1832A>G (p.Glu611Gly)
c.*315A>G (n.*315A>G)
c.*1839A>G (n.*1839A>G)
c.1589A>G (p.Glu530Gly)
c.1402-10644A>G (n.1402-10644A>G)
c.1925A>G (p.Glu642Gly)
c.2105A>G (p.Glu702Gly)
c.1772A>G (p.Glu591Gly)
7g.117592182A>TCA368979242CFTRc.2015A>T (p.Glu672Val)
c.*1729A>T (n.*1729A>T)
c.1832A>T (p.Glu611Val)
c.*315A>T (n.*315A>T)
c.*1839A>T (n.*1839A>T)
c.1589A>T (p.Glu530Val)
c.1402-10644A>T (n.1402-10644A>T)
c.1925A>T (p.Glu642Val)
c.2105A>T (p.Glu702Val)
c.1772A>T (p.Glu591Val)
7g.117592183A=CA1737394479CFTRc.2016A= (p.Glu672=)
c.*1730A= (n.*1730A=)
c.1833A= (p.Glu611=)
c.*316A= (n.*316A=)
c.*1840A= (n.*1840A=)
c.1590A= (p.Glu530=)
c.1402-10643A= (n.1402-10643A=)
c.1926A= (p.Glu642=)
c.2106A= (p.Glu702=)
c.1773A= (p.Glu591=)
7g.117592183A>CCA368979243CFTRc.2016A>C (p.Glu672Asp)
c.*1730A>C (n.*1730A>C)
c.1833A>C (p.Glu611Asp)
c.*316A>C (n.*316A>C)
c.*1840A>C (n.*1840A>C)
c.1590A>C (p.Glu530Asp)
c.1402-10643A>C (n.1402-10643A>C)
c.1926A>C (p.Glu642Asp)
c.2106A>C (p.Glu702Asp)
c.1773A>C (p.Glu591Asp)
7g.117592183A>GCA457448998CFTRc.2016A>G (p.Glu672=)
c.*1730A>G (n.*1730A>G)
c.1833A>G (p.Glu611=)
c.*316A>G (n.*316A>G)
c.*1840A>G (n.*1840A>G)
c.1590A>G (p.Glu530=)
c.1402-10643A>G (n.1402-10643A>G)
c.1926A>G (p.Glu642=)
c.2106A>G (p.Glu702=)
c.1773A>G (p.Glu591=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117592183A>TCA368979249CFTRc.2016A>T (p.Glu672Asp)
c.*1730A>T (n.*1730A>T)
c.1833A>T (p.Glu611Asp)
c.*316A>T (n.*316A>T)
c.*1840A>T (n.*1840A>T)
c.1590A>T (p.Glu530Asp)
c.1402-10643A>T (n.1402-10643A>T)
c.1926A>T (p.Glu642Asp)
c.2106A>T (p.Glu702Asp)
c.1773A>T (p.Glu591Asp)
7g.117592184G>ACA368979251CFTRc.2017G>A (p.Gly673Arg)
c.*1731G>A (n.*1731G>A)
c.1834G>A (p.Gly612Arg)
c.*317G>A (n.*317G>A)
c.*1841G>A (n.*1841G>A)
c.1591G>A (p.Gly531Arg)
c.1402-10642G>A (n.1402-10642G>A)
c.1927G>A (p.Gly643Arg)
c.2107G>A (p.Gly703Arg)
c.1774G>A (p.Gly592Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117592184G>CCA368979254CFTRc.2017G>C (p.Gly673Arg)
c.*1731G>C (n.*1731G>C)
c.1834G>C (p.Gly612Arg)
c.*317G>C (n.*317G>C)
c.*1841G>C (n.*1841G>C)
c.1591G>C (p.Gly531Arg)
c.1402-10642G>C (n.1402-10642G>C)
c.1927G>C (p.Gly643Arg)
c.2107G>C (p.Gly703Arg)
c.1774G>C (p.Gly592Arg)
7g.117592184G=CA1737394484CFTRc.2017G= (p.Gly673=)
c.*1731G= (n.*1731G=)
c.1834G= (p.Gly612=)
c.*317G= (n.*317G=)
c.*1841G= (n.*1841G=)
c.1591G= (p.Gly531=)
c.1402-10642G= (n.1402-10642G=)
c.1927G= (p.Gly643=)
c.2107G= (p.Gly703=)
c.1774G= (p.Gly592=)
7g.117592184G>TCA326730CFTRc.2017G>T (p.Gly673Ter)
c.*1731G>T (n.*1731G>T)
c.1834G>T (p.Gly612Ter)
c.*317G>T (n.*317G>T)
c.*1841G>T (n.*1841G>T)
c.1591G>T (p.Gly531Ter)
c.1402-10642G>T (n.1402-10642G>T)
c.1927G>T (p.Gly643Ter)
c.2107G>T (p.Gly703Ter)
c.1774G>T (p.Gly592Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592185G>ACA368979260CFTRc.2018G>A (p.Gly673Glu)
c.*1732G>A (n.*1732G>A)
c.1835G>A (p.Gly612Glu)
c.*318G>A (n.*318G>A)
c.*1842G>A (n.*1842G>A)
c.1592G>A (p.Gly531Glu)
c.1402-10641G>A (n.1402-10641G>A)
c.1928G>A (p.Gly643Glu)
c.2108G>A (p.Gly703Glu)
c.1775G>A (p.Gly592Glu)
7g.117592185G>CCA368979255CFTRc.2018G>C (p.Gly673Ala)
c.*1732G>C (n.*1732G>C)
c.1835G>C (p.Gly612Ala)
c.*318G>C (n.*318G>C)
c.*1842G>C (n.*1842G>C)
c.1592G>C (p.Gly531Ala)
c.1402-10641G>C (n.1402-10641G>C)
c.1928G>C (p.Gly643Ala)
c.2108G>C (p.Gly703Ala)
c.1775G>C (p.Gly592Ala)
7g.117592185G>TCA368979258CFTRc.2018G>T (p.Gly673Val)
c.*1732G>T (n.*1732G>T)
c.1835G>T (p.Gly612Val)
c.*318G>T (n.*318G>T)
c.*1842G>T (n.*1842G>T)
c.1592G>T (p.Gly531Val)
c.1402-10641G>T (n.1402-10641G>T)
c.1928G>T (p.Gly643Val)
c.2108G>T (p.Gly703Val)
c.1775G>T (p.Gly592Val)
7g.117592186A>CCA457449000CFTRc.2019A>C (p.Gly673=)
c.*1733A>C (n.*1733A>C)
c.1836A>C (p.Gly612=)
c.*319A>C (n.*319A>C)
c.*1843A>C (n.*1843A>C)
c.1593A>C (p.Gly531=)
c.1402-10640A>C (n.1402-10640A>C)
c.1929A>C (p.Gly643=)
c.2109A>C (p.Gly703=)
c.1776A>C (p.Gly592=)
7g.117592186A>GCA457449001CFTRc.2019A>G (p.Gly673=)
c.*1733A>G (n.*1733A>G)
c.1836A>G (p.Gly612=)
c.*319A>G (n.*319A>G)
c.*1843A>G (n.*1843A>G)
c.1593A>G (p.Gly531=)
c.1402-10640A>G (n.1402-10640A>G)
c.1929A>G (p.Gly643=)
c.2109A>G (p.Gly703=)
c.1776A>G (p.Gly592=)
 ClinVar dbSNP
7g.117592186A>TCA457448999CFTRc.2019A>T (p.Gly673=)
c.*1733A>T (n.*1733A>T)
c.1836A>T (p.Gly612=)
c.*319A>T (n.*319A>T)
c.*1843A>T (n.*1843A>T)
c.1593A>T (p.Gly531=)
c.1402-10640A>T (n.1402-10640A>T)
c.1929A>T (p.Gly643=)
c.2109A>T (p.Gly703=)
c.1776A>T (p.Gly592=)
7g.117592186_117592189dupCA2825001521CFTRc.2019_2022dup (p.Ala675ArgfsTer15)
c.*1733_*1736dup (n.*1733_*1736dup)
c.1836_1839dup (p.Ala614ArgfsTer15)
c.*319_*322dup (n.*319_*322dup)
c.*1843_*1846dup (n.*1843_*1846dup)
c.1593_1596dup (p.Ala533ArgfsTer15)
c.1402-10640_1402-10637dup (n.1402-10640_1402-10637dup)
c.1929_1932dup (p.Ala645ArgfsTer15)
c.2109_2112dup (p.Ala705ArgfsTer15)
c.1776_1779dup (p.Ala594ArgfsTer15)
 ClinVar
7g.117592187G>ACA368979261CFTRc.2020G>A (p.Asp674Asn)
c.*1734G>A (n.*1734G>A)
c.1837G>A (p.Asp613Asn)
c.*320G>A (n.*320G>A)
c.*1844G>A (n.*1844G>A)
c.1594G>A (p.Asp532Asn)
c.1402-10639G>A (n.1402-10639G>A)
c.1930G>A (p.Asp644Asn)
c.2110G>A (p.Asp704Asn)
c.1777G>A (p.Asp593Asn)
7g.117592187G>CCA368979262CFTRc.2020G>C (p.Asp674His)
c.*1734G>C (n.*1734G>C)
c.1837G>C (p.Asp613His)
c.*320G>C (n.*320G>C)
c.*1844G>C (n.*1844G>C)
c.1594G>C (p.Asp532His)
c.1402-10639G>C (n.1402-10639G>C)
c.1930G>C (p.Asp644His)
c.2110G>C (p.Asp704His)
c.1777G>C (p.Asp593His)
7g.117592187G=CA1737394490CFTRc.2020G= (p.Asp674=)
c.*1734G= (n.*1734G=)
c.1837G= (p.Asp613=)
c.*320G= (n.*320G=)
c.*1844G= (n.*1844G=)
c.1594G= (p.Asp532=)
c.1402-10639G= (n.1402-10639G=)
c.1930G= (p.Asp644=)
c.2110G= (p.Asp704=)
c.1777G= (p.Asp593=)
7g.117592187G>TCA368979266CFTRc.2020G>T (p.Asp674Tyr)
c.*1734G>T (n.*1734G>T)
c.1837G>T (p.Asp613Tyr)
c.*320G>T (n.*320G>T)
c.*1844G>T (n.*1844G>T)
c.1594G>T (p.Asp532Tyr)
c.1402-10639G>T (n.1402-10639G>T)
c.1930G>T (p.Asp644Tyr)
c.2110G>T (p.Asp704Tyr)
c.1777G>T (p.Asp593Tyr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117592188A=CA1737394494CFTRc.2021A= (p.Asp674=)
c.*1735A= (n.*1735A=)
c.1838A= (p.Asp613=)
c.*321A= (n.*321A=)
c.*1845A= (n.*1845A=)
c.1595A= (p.Asp532=)
c.1402-10638A= (n.1402-10638A=)
c.1931A= (p.Asp644=)
c.2111A= (p.Asp704=)
c.1778A= (p.Asp593=)
7g.117592188A>CCA368979268CFTRc.2021A>C (p.Asp674Ala)
c.*1735A>C (n.*1735A>C)
c.1838A>C (p.Asp613Ala)
c.*321A>C (n.*321A>C)
c.*1845A>C (n.*1845A>C)
c.1595A>C (p.Asp532Ala)
c.1402-10638A>C (n.1402-10638A>C)
c.1931A>C (p.Asp644Ala)
c.2111A>C (p.Asp704Ala)
c.1778A>C (p.Asp593Ala)
7g.117592188A>GCA4451127CFTRc.2021A>G (p.Asp674Gly)
c.*1735A>G (n.*1735A>G)
c.1838A>G (p.Asp613Gly)
c.*321A>G (n.*321A>G)
c.*1845A>G (n.*1845A>G)
c.1595A>G (p.Asp532Gly)
c.1402-10638A>G (n.1402-10638A>G)
c.1931A>G (p.Asp644Gly)
c.2111A>G (p.Asp704Gly)
c.1778A>G (p.Asp593Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592188A>TCA4451128CFTRc.2021A>T (p.Asp674Val)
c.*1735A>T (n.*1735A>T)
c.1838A>T (p.Asp613Val)
c.*321A>T (n.*321A>T)
c.*1845A>T (n.*1845A>T)
c.1595A>T (p.Asp532Val)
c.1402-10638A>T (n.1402-10638A>T)
c.1931A>T (p.Asp644Val)
c.2111A>T (p.Asp704Val)
c.1778A>T (p.Asp593Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592189T>ACA368979282CFTRc.2022T>A (p.Asp674Glu)
c.*1736T>A (n.*1736T>A)
c.1839T>A (p.Asp613Glu)
c.*322T>A (n.*322T>A)
c.*1846T>A (n.*1846T>A)
c.1596T>A (p.Asp532Glu)
c.1402-10637T>A (n.1402-10637T>A)
c.1932T>A (p.Asp644Glu)
c.2112T>A (p.Asp704Glu)
c.1779T>A (p.Asp593Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117592189T>CCA457449002CFTRc.2022T>C (p.Asp674=)
c.*1736T>C (n.*1736T>C)
c.1839T>C (p.Asp613=)
c.*322T>C (n.*322T>C)
c.*1846T>C (n.*1846T>C)
c.1596T>C (p.Asp532=)
c.1402-10637T>C (n.1402-10637T>C)
c.1932T>C (p.Asp644=)
c.2112T>C (p.Asp704=)
c.1779T>C (p.Asp593=)
 ClinVar dbSNP
7g.117592189T>GCA368979283CFTRc.2022T>G (p.Asp674Glu)
c.*1736T>G (n.*1736T>G)
c.1839T>G (p.Asp613Glu)
c.*322T>G (n.*322T>G)
c.*1846T>G (n.*1846T>G)
c.1596T>G (p.Asp532Glu)
c.1402-10637T>G (n.1402-10637T>G)
c.1932T>G (p.Asp644Glu)
c.2112T>G (p.Asp704Glu)
c.1779T>G (p.Asp593Glu)
7g.117592189T=CA1737394499CFTRc.2022T= (p.Asp674=)
c.*1736T= (n.*1736T=)
c.1839T= (p.Asp613=)
c.*322T= (n.*322T=)
c.*1846T= (n.*1846T=)
c.1596T= (p.Asp532=)
c.1402-10637T= (n.1402-10637T=)
c.1932T= (p.Asp644=)
c.2112T= (p.Asp704=)
c.1779T= (p.Asp593=)
7g.117592190G>ACA368979285CFTRc.2023G>A (p.Ala675Thr)
c.*1737G>A (n.*1737G>A)
c.1840G>A (p.Ala614Thr)
c.*323G>A (n.*323G>A)
c.*1847G>A (n.*1847G>A)
c.1597G>A (p.Ala533Thr)
c.1402-10636G>A (n.1402-10636G>A)
c.1933G>A (p.Ala645Thr)
c.2113G>A (p.Ala705Thr)
c.1780G>A (p.Ala594Thr)
7g.117592190G>CCA368979287CFTRc.2023G>C (p.Ala675Pro)
c.*1737G>C (n.*1737G>C)
c.1840G>C (p.Ala614Pro)
c.*323G>C (n.*323G>C)
c.*1847G>C (n.*1847G>C)
c.1597G>C (p.Ala533Pro)
c.1402-10636G>C (n.1402-10636G>C)
c.1933G>C (p.Ala645Pro)
c.2113G>C (p.Ala705Pro)
c.1780G>C (p.Ala594Pro)
7g.117592190G>TCA368979289CFTRc.2023G>T (p.Ala675Ser)
c.*1737G>T (n.*1737G>T)
c.1840G>T (p.Ala614Ser)
c.*323G>T (n.*323G>T)
c.*1847G>T (n.*1847G>T)
c.1597G>T (p.Ala533Ser)
c.1402-10636G>T (n.1402-10636G>T)
c.1933G>T (p.Ala645Ser)
c.2113G>T (p.Ala705Ser)
c.1780G>T (p.Ala594Ser)
7g.117592191C>ACA368979292CFTRc.2024C>A (p.Ala675Asp)
c.*1738C>A (n.*1738C>A)
c.1841C>A (p.Ala614Asp)
c.*324C>A (n.*324C>A)
c.*1848C>A (n.*1848C>A)
c.1598C>A (p.Ala533Asp)
c.1402-10635C>A (n.1402-10635C>A)
c.1934C>A (p.Ala645Asp)
c.2114C>A (p.Ala705Asp)
c.1781C>A (p.Ala594Asp)
7g.117592191C=CA1737394506CFTRc.2024C= (p.Ala675=)
c.*1738C= (n.*1738C=)
c.1841C= (p.Ala614=)
c.*324C= (n.*324C=)
c.*1848C= (n.*1848C=)
c.1598C= (p.Ala533=)
c.1402-10635C= (n.1402-10635C=)
c.1934C= (p.Ala645=)
c.2114C= (p.Ala705=)
c.1781C= (p.Ala594=)
7g.117592191C>GCA368979293CFTRc.2024C>G (p.Ala675Gly)
c.*1738C>G (n.*1738C>G)
c.1841C>G (p.Ala614Gly)
c.*324C>G (n.*324C>G)
c.*1848C>G (n.*1848C>G)
c.1598C>G (p.Ala533Gly)
c.1402-10635C>G (n.1402-10635C>G)
c.1934C>G (p.Ala645Gly)
c.2114C>G (p.Ala705Gly)
c.1781C>G (p.Ala594Gly)
7g.117592191C>TCA368979291CFTRc.2024C>T (p.Ala675Val)
c.*1738C>T (n.*1738C>T)
c.1841C>T (p.Ala614Val)
c.*324C>T (n.*324C>T)
c.*1848C>T (n.*1848C>T)
c.1598C>T (p.Ala533Val)
c.1402-10635C>T (n.1402-10635C>T)
c.1934C>T (p.Ala645Val)
c.2114C>T (p.Ala705Val)
c.1781C>T (p.Ala594Val)
 dbSNP gnomAD v2 gnomAD v4 COSMIC

Number of alleles fetched