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.117592215_117592222dupCA1106305610CFTRc.2048_2055dup (p.Ser686LysfsTer?)
c.*1762_*1769dup (n.*1762_*1769dup)
c.1865_1872dup (p.Ser625LysfsTer?)
c.*348_*355dup (n.*348_*355dup)
c.*1872_*1879dup (n.*1872_*1879dup)
c.1622_1629dup (p.Ser544LysfsTer?)
c.1402-10611_1402-10604dup (n.1402-10611_1402-10604dup)
c.1958_1965dup (p.Ser656LysfsTer?)
c.2138_2145dup (p.Ser716LysfsTer?)
c.1805_1812dup (p.Ser605LysfsTer?)
 dbSNP gnomAD v3 gnomAD v4
7g.117592219dupCA233699CFTRc.2052dup (p.Gln685ThrfsTer4)
c.*1766dup (n.*1766dup)
c.1869dup (p.Gln624ThrfsTer4)
c.*352dup (n.*352dup)
c.*1876dup (n.*1876dup)
c.1626dup (p.Gln543ThrfsTer4)
c.1402-10607dup (n.1402-10607dup)
c.1962dup (p.Gln655ThrfsTer4)
c.2142dup (p.Gln715ThrfsTer4)
c.1809dup (p.Gln604ThrfsTer4)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592218_117592219dupCA913190194CFTRc.2051_2052dup (p.Gln685AsnfsTer?)
c.*1765_*1766dup (n.*1765_*1766dup)
c.1868_1869dup (p.Gln624AsnfsTer?)
c.*351_*352dup (n.*351_*352dup)
c.*1875_*1876dup (n.*1875_*1876dup)
c.1625_1626dup (p.Gln543AsnfsTer?)
c.1402-10608_1402-10607dup (n.1402-10608_1402-10607dup)
c.1961_1962dup (p.Gln655AsnfsTer?)
c.2141_2142dup (p.Gln715AsnfsTer?)
c.1808_1809dup (p.Gln604AsnfsTer?)
 ClinVar dbSNP
7g.117592219delCA344706CFTRc.2052del (p.Lys684AsnfsTer?)
c.*1766del (n.*1766del)
c.1869del (p.Lys623AsnfsTer?)
c.*352del (n.*352del)
c.*1876del (n.*1876del)
c.1626del (p.Lys542AsnfsTer?)
c.1402-10607del (n.1402-10607del)
c.1962del (p.Lys654AsnfsTer?)
c.2142del (p.Lys714AsnfsTer?)
c.1809del (p.Lys603AsnfsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592218_117592219delCA326739CFTRc.2051_2052del (p.Lys684ThrfsTer4)
c.*1765_*1766del (n.*1765_*1766del)
c.1868_1869del (p.Lys623ThrfsTer4)
c.*351_*352del (n.*351_*352del)
c.*1875_*1876del (n.*1875_*1876del)
c.1625_1626del (p.Lys542ThrfsTer4)
c.1402-10608_1402-10607del (n.1402-10608_1402-10607del)
c.1961_1962del (p.Lys654ThrfsTer4)
c.2141_2142del (p.Lys714ThrfsTer4)
c.1808_1809del (p.Lys603ThrfsTer4)
 ClinVar dbSNP
7g.117592216_117592219delCA2573052803CFTRc.2049_2052del (p.Lys683AsnfsTer?)
c.*1763_*1766del (n.*1763_*1766del)
c.1866_1869del (p.Lys622AsnfsTer?)
c.*349_*352del (n.*349_*352del)
c.*1873_*1876del (n.*1873_*1876del)
c.1623_1626del (p.Lys541AsnfsTer?)
c.1402-10610_1402-10607del (n.1402-10610_1402-10607del)
c.1959_1962del (p.Lys653AsnfsTer?)
c.2139_2142del (p.Lys713AsnfsTer?)
c.1806_1809del (p.Lys602AsnfsTer?)
 ClinVar dbSNP
7g.117592215A=CA1737394598CFTRc.2048A= (p.Lys683=)
c.*1762A= (n.*1762A=)
c.1865A= (p.Lys622=)
c.*348A= (n.*348A=)
c.*1872A= (n.*1872A=)
c.1622A= (p.Lys541=)
c.1402-10611A= (n.1402-10611A=)
c.1958A= (p.Lys653=)
c.2138A= (p.Lys713=)
c.1805A= (p.Lys602=)
7g.117592215A>CCA368979414CFTRc.2048A>C (p.Lys683Thr)
c.*1762A>C (n.*1762A>C)
c.1865A>C (p.Lys622Thr)
c.*348A>C (n.*348A>C)
c.*1872A>C (n.*1872A>C)
c.1622A>C (p.Lys541Thr)
c.1402-10611A>C (n.1402-10611A>C)
c.1958A>C (p.Lys653Thr)
c.2138A>C (p.Lys713Thr)
c.1805A>C (p.Lys602Thr)
7g.117592215A>GCA164947738CFTRc.2048A>G (p.Lys683Arg)
c.*1762A>G (n.*1762A>G)
c.1865A>G (p.Lys622Arg)
c.*348A>G (n.*348A>G)
c.*1872A>G (n.*1872A>G)
c.1622A>G (p.Lys541Arg)
c.1402-10611A>G (n.1402-10611A>G)
c.1958A>G (p.Lys653Arg)
c.2138A>G (p.Lys713Arg)
c.1805A>G (p.Lys602Arg)
 dbSNP gnomAD v3
7g.117592215A>TCA368979417CFTRc.2048A>T (p.Lys683Ile)
c.*1762A>T (n.*1762A>T)
c.1865A>T (p.Lys622Ile)
c.*348A>T (n.*348A>T)
c.*1872A>T (n.*1872A>T)
c.1622A>T (p.Lys541Ile)
c.1402-10611A>T (n.1402-10611A>T)
c.1958A>T (p.Lys653Ile)
c.2138A>T (p.Lys713Ile)
c.1805A>T (p.Lys602Ile)
7g.117592216A>CCA368979421CFTRc.2049A>C (p.Lys683Asn)
c.*1763A>C (n.*1763A>C)
c.1866A>C (p.Lys622Asn)
c.*349A>C (n.*349A>C)
c.*1873A>C (n.*1873A>C)
c.1623A>C (p.Lys541Asn)
c.1402-10610A>C (n.1402-10610A>C)
c.1959A>C (p.Lys653Asn)
c.2139A>C (p.Lys713Asn)
c.1806A>C (p.Lys602Asn)
7g.117592216A>GCA457449021CFTRc.2049A>G (p.Lys683=)
c.*1763A>G (n.*1763A>G)
c.1866A>G (p.Lys622=)
c.*349A>G (n.*349A>G)
c.*1873A>G (n.*1873A>G)
c.1623A>G (p.Lys541=)
c.1402-10610A>G (n.1402-10610A>G)
c.1959A>G (p.Lys653=)
c.2139A>G (p.Lys713=)
c.1806A>G (p.Lys602=)
7g.117592216A>TCA368979423CFTRc.2049A>T (p.Lys683Asn)
c.*1763A>T (n.*1763A>T)
c.1866A>T (p.Lys622Asn)
c.*349A>T (n.*349A>T)
c.*1873A>T (n.*1873A>T)
c.1623A>T (p.Lys541Asn)
c.1402-10610A>T (n.1402-10610A>T)
c.1959A>T (p.Lys653Asn)
c.2139A>T (p.Lys713Asn)
c.1806A>T (p.Lys602Asn)
7g.117592216_117592220delinsAAAACCA1737394602CFTRc.2049_2053delinsAAAAC (p.Lys683=)
c.*1763_*1767delinsAAAAC (n.*1763_*1767delinsAAAAC)
c.1866_1870delinsAAAAC (p.Lys622=)
c.*349_*353delinsAAAAC (n.*349_*353delinsAAAAC)
c.*1873_*1877delinsAAAAC (n.*1873_*1877delinsAAAAC)
c.1623_1627delinsAAAAC (p.Lys541=)
c.1402-10610_1402-10606delinsAAAAC (n.1402-10610_1402-10606delinsAAAAC)
c.1959_1963delinsAAAAC (p.Lys653=)
c.2139_2143delinsAAAAC (p.Lys713=)
c.1806_1810delinsAAAAC (p.Lys602=)
7g.117592217A>CCA368979433CFTRc.2050A>C (p.Lys684Gln)
c.*1764A>C (n.*1764A>C)
c.1867A>C (p.Lys623Gln)
c.*350A>C (n.*350A>C)
c.*1874A>C (n.*1874A>C)
c.1624A>C (p.Lys542Gln)
c.1402-10609A>C (n.1402-10609A>C)
c.1960A>C (p.Lys654Gln)
c.2140A>C (p.Lys714Gln)
c.1807A>C (p.Lys603Gln)
7g.117592217A>GCA368979432CFTRc.2050A>G (p.Lys684Glu)
c.*1764A>G (n.*1764A>G)
c.1867A>G (p.Lys623Glu)
c.*350A>G (n.*350A>G)
c.*1874A>G (n.*1874A>G)
c.1624A>G (p.Lys542Glu)
c.1402-10609A>G (n.1402-10609A>G)
c.1960A>G (p.Lys654Glu)
c.2140A>G (p.Lys714Glu)
c.1807A>G (p.Lys603Glu)
7g.117592217A>TCA368979427CFTRc.2050A>T (p.Lys684Ter)
c.*1764A>T (n.*1764A>T)
c.1867A>T (p.Lys623Ter)
c.*350A>T (n.*350A>T)
c.*1874A>T (n.*1874A>T)
c.1624A>T (p.Lys542Ter)
c.1402-10609A>T (n.1402-10609A>T)
c.1960A>T (p.Lys654Ter)
c.2140A>T (p.Lys714Ter)
c.1807A>T (p.Lys603Ter)
7g.117592217_117592219delinsAAACA1737394609CFTRc.2050_2052delinsAAA (p.Lys684=)
c.*1764_*1766delinsAAA (n.*1764_*1766delinsAAA)
c.1867_1869delinsAAA (p.Lys623=)
c.*350_*352delinsAAA (n.*350_*352delinsAAA)
c.*1874_*1876delinsAAA (n.*1874_*1876delinsAAA)
c.1624_1626delinsAAA (p.Lys542=)
c.1402-10609_1402-10607delinsAAA (n.1402-10609_1402-10607delinsAAA)
c.1960_1962delinsAAA (p.Lys654=)
c.2140_2142delinsAAA (p.Lys714=)
c.1807_1809delinsAAA (p.Lys603=)
7g.117592217_117592220delinsAAACCA1737394607CFTRc.2050_2053delinsAAAC (p.Lys684=)
c.*1764_*1767delinsAAAC (n.*1764_*1767delinsAAAC)
c.1867_1870delinsAAAC (p.Lys623=)
c.*350_*353delinsAAAC (n.*350_*353delinsAAAC)
c.*1874_*1877delinsAAAC (n.*1874_*1877delinsAAAC)
c.1624_1627delinsAAAC (p.Lys542=)
c.1402-10609_1402-10606delinsAAAC (n.1402-10609_1402-10606delinsAAAC)
c.1960_1963delinsAAAC (p.Lys654=)
c.2140_2143delinsAAAC (p.Lys714=)
c.1807_1810delinsAAAC (p.Lys603=)
7g.117592219_117592222delCA368979429CFTRc.2052_2055del (p.Lys684AsnfsTer?)
c.*1766_*1769del (n.*1766_*1769del)
c.1869_1872del (p.Lys623AsnfsTer?)
c.*352_*355del (n.*352_*355del)
c.*1876_*1879del (n.*1876_*1879del)
c.1626_1629del (p.Lys542AsnfsTer?)
c.1402-10607_1402-10604del (n.1402-10607_1402-10604del)
c.1962_1965del (p.Lys654AsnfsTer?)
c.2142_2145del (p.Lys714AsnfsTer?)
c.1809_1812del (p.Lys603AsnfsTer?)
 dbSNP
7g.117592218A=CA1737394622CFTRc.2051A= (p.Lys684=)
c.*1765A= (n.*1765A=)
c.1868A= (p.Lys623=)
c.*351A= (n.*351A=)
c.*1875A= (n.*1875A=)
c.1625A= (p.Lys542=)
c.1402-10608A= (n.1402-10608A=)
c.1961A= (p.Lys654=)
c.2141A= (p.Lys714=)
c.1808A= (p.Lys603=)
7g.117592218A>CCA368979438CFTRc.2051A>C (p.Lys684Thr)
c.*1765A>C (n.*1765A>C)
c.1868A>C (p.Lys623Thr)
c.*351A>C (n.*351A>C)
c.*1875A>C (n.*1875A>C)
c.1625A>C (p.Lys542Thr)
c.1402-10608A>C (n.1402-10608A>C)
c.1961A>C (p.Lys654Thr)
c.2141A>C (p.Lys714Thr)
c.1808A>C (p.Lys603Thr)
 dbSNP gnomAD v2 gnomAD v4
7g.117592218A>GCA164947746CFTRc.2051A>G (p.Lys684Arg)
c.*1765A>G (n.*1765A>G)
c.1868A>G (p.Lys623Arg)
c.*351A>G (n.*351A>G)
c.*1875A>G (n.*1875A>G)
c.1625A>G (p.Lys542Arg)
c.1402-10608A>G (n.1402-10608A>G)
c.1961A>G (p.Lys654Arg)
c.2141A>G (p.Lys714Arg)
c.1808A>G (p.Lys603Arg)
 dbSNP
7g.117592218A>TCA368979436CFTRc.2051A>T (p.Lys684Ile)
c.*1765A>T (n.*1765A>T)
c.1868A>T (p.Lys623Ile)
c.*351A>T (n.*351A>T)
c.*1875A>T (n.*1875A>T)
c.1625A>T (p.Lys542Ile)
c.1402-10608A>T (n.1402-10608A>T)
c.1961A>T (p.Lys654Ile)
c.2141A>T (p.Lys714Ile)
c.1808A>T (p.Lys603Ile)
7g.117592218_117592219delinsGCA325699CFTRc.2051_2052delinsG (p.Lys684SerfsTer?)
c.*1765_*1766delinsG (n.*1765_*1766delinsG)
c.1868_1869delinsG (p.Lys623SerfsTer?)
c.*351_*352delinsG (n.*351_*352delinsG)
c.*1875_*1876delinsG (n.*1875_*1876delinsG)
c.1625_1626delinsG (p.Lys542SerfsTer?)
c.1402-10608_1402-10607delinsG (n.1402-10608_1402-10607delinsG)
c.1961_1962delinsG (p.Lys654SerfsTer?)
c.2141_2142delinsG (p.Lys714SerfsTer?)
c.1808_1809delinsG (p.Lys603SerfsTer?)
 ClinVar dbSNP
7g.117592220_117592222delCA577680764CFTRc.2053_2055del (p.Gln685del)
c.*1767_*1769del (n.*1767_*1769del)
c.1870_1872del (p.Gln624del)
c.*353_*355del (n.*353_*355del)
c.*1877_*1879del (n.*1877_*1879del)
c.1627_1629del (p.Gln543del)
c.1402-10606_1402-10604del (n.1402-10606_1402-10604del)
c.1963_1965del (p.Gln655del)
c.2143_2145del (p.Gln715del)
c.1810_1812del (p.Gln604del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117592218_117592219insGCA923726134CFTRc.2051_2052insG (p.Gln685ThrfsTer4)
c.*1765_*1766insG (n.*1765_*1766insG)
c.1868_1869insG (p.Gln624ThrfsTer4)
c.*351_*352insG (n.*351_*352insG)
c.*1875_*1876insG (n.*1875_*1876insG)
c.1625_1626insG (p.Gln543ThrfsTer4)
c.1402-10608_1402-10607insG (n.1402-10608_1402-10607insG)
c.1961_1962insG (p.Gln655ThrfsTer4)
c.2141_2142insG (p.Gln715ThrfsTer4)
c.1808_1809insG (p.Gln604ThrfsTer4)
7g.117592219A=CA1737394631CFTRc.2052A= (p.Lys684=)
c.*1766A= (n.*1766A=)
c.1869A= (p.Lys623=)
c.*352A= (n.*352A=)
c.*1876A= (n.*1876A=)
c.1626A= (p.Lys542=)
c.1402-10607A= (n.1402-10607A=)
c.1962A= (p.Lys654=)
c.2142A= (p.Lys714=)
c.1809A= (p.Lys603=)
7g.117592219A>CCA368979443CFTRc.2052A>C (p.Lys684Asn)
c.*1766A>C (n.*1766A>C)
c.1869A>C (p.Lys623Asn)
c.*352A>C (n.*352A>C)
c.*1876A>C (n.*1876A>C)
c.1626A>C (p.Lys542Asn)
c.1402-10607A>C (n.1402-10607A>C)
c.1962A>C (p.Lys654Asn)
c.2142A>C (p.Lys714Asn)
c.1809A>C (p.Lys603Asn)
 ClinVar dbSNP
7g.117592219A>GCA4451134CFTRc.2052A>G (p.Lys684=)
c.*1766A>G (n.*1766A>G)
c.1869A>G (p.Lys623=)
c.*352A>G (n.*352A>G)
c.*1876A>G (n.*1876A>G)
c.1626A>G (p.Lys542=)
c.1402-10607A>G (n.1402-10607A>G)
c.1962A>G (p.Lys654=)
c.2142A>G (p.Lys714=)
c.1809A>G (p.Lys603=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592219A>TCA368979447CFTRc.2052A>T (p.Lys684Asn)
c.*1766A>T (n.*1766A>T)
c.1869A>T (p.Lys623Asn)
c.*352A>T (n.*352A>T)
c.*1876A>T (n.*1876A>T)
c.1626A>T (p.Lys542Asn)
c.1402-10607A>T (n.1402-10607A>T)
c.1962A>T (p.Lys654Asn)
c.2142A>T (p.Lys714Asn)
c.1809A>T (p.Lys603Asn)
 ClinVar dbSNP gnomAD v4
7g.117592220C>ACA368979449CFTRc.2053C>A (p.Gln685Lys)
c.*1767C>A (n.*1767C>A)
c.1870C>A (p.Gln624Lys)
c.*353C>A (n.*353C>A)
c.*1877C>A (n.*1877C>A)
c.1627C>A (p.Gln543Lys)
c.1402-10606C>A (n.1402-10606C>A)
c.1963C>A (p.Gln655Lys)
c.2143C>A (p.Gln715Lys)
c.1810C>A (p.Gln604Lys)
 COSMIC
7g.117592220C=CA1737394648CFTRc.2053C= (p.Gln685=)
c.*1767C= (n.*1767C=)
c.1870C= (p.Gln624=)
c.*353C= (n.*353C=)
c.*1877C= (n.*1877C=)
c.1627C= (p.Gln543=)
c.1402-10606C= (n.1402-10606C=)
c.1963C= (p.Gln655=)
c.2143C= (p.Gln715=)
c.1810C= (p.Gln604=)
7g.117592220C>GCA368979451CFTRc.2053C>G (p.Gln685Glu)
c.*1767C>G (n.*1767C>G)
c.1870C>G (p.Gln624Glu)
c.*353C>G (n.*353C>G)
c.*1877C>G (n.*1877C>G)
c.1627C>G (p.Gln543Glu)
c.1402-10606C>G (n.1402-10606C>G)
c.1963C>G (p.Gln655Glu)
c.2143C>G (p.Gln715Glu)
c.1810C>G (p.Gln604Glu)
7g.117592220C>TCA326740CFTRc.2053C>T (p.Gln685Ter)
c.*1767C>T (n.*1767C>T)
c.1870C>T (p.Gln624Ter)
c.*353C>T (n.*353C>T)
c.*1877C>T (n.*1877C>T)
c.1627C>T (p.Gln543Ter)
c.1402-10606C>T (n.1402-10606C>T)
c.1963C>T (p.Gln655Ter)
c.2143C>T (p.Gln715Ter)
c.1810C>T (p.Gln604Ter)
 ClinVar dbSNP
7g.117592220dupCA276116CFTRc.2053dup (p.Gln685ProfsTer4)
c.*1767dup (n.*1767dup)
c.1870dup (p.Gln624ProfsTer4)
c.*353dup (n.*353dup)
c.*1877dup (n.*1877dup)
c.1627dup (p.Gln543ProfsTer4)
c.1402-10606dup (n.1402-10606dup)
c.1963dup (p.Gln655ProfsTer4)
c.2143dup (p.Gln715ProfsTer4)
c.1810dup (p.Gln604ProfsTer4)
 ClinVar dbSNP
7g.117592221A>CCA368979455CFTRc.2054A>C (p.Gln685Pro)
c.*1768A>C (n.*1768A>C)
c.1871A>C (p.Gln624Pro)
c.*354A>C (n.*354A>C)
c.*1878A>C (n.*1878A>C)
c.1628A>C (p.Gln543Pro)
c.1402-10605A>C (n.1402-10605A>C)
c.1964A>C (p.Gln655Pro)
c.2144A>C (p.Gln715Pro)
c.1811A>C (p.Gln604Pro)
 ClinVar
7g.117592221A>GCA368979456CFTRc.2054A>G (p.Gln685Arg)
c.*1768A>G (n.*1768A>G)
c.1871A>G (p.Gln624Arg)
c.*354A>G (n.*354A>G)
c.*1878A>G (n.*1878A>G)
c.1628A>G (p.Gln543Arg)
c.1402-10605A>G (n.1402-10605A>G)
c.1964A>G (p.Gln655Arg)
c.2144A>G (p.Gln715Arg)
c.1811A>G (p.Gln604Arg)
7g.117592221A>TCA368979458CFTRc.2054A>T (p.Gln685Leu)
c.*1768A>T (n.*1768A>T)
c.1871A>T (p.Gln624Leu)
c.*354A>T (n.*354A>T)
c.*1878A>T (n.*1878A>T)
c.1628A>T (p.Gln543Leu)
c.1402-10605A>T (n.1402-10605A>T)
c.1964A>T (p.Gln655Leu)
c.2144A>T (p.Gln715Leu)
c.1811A>T (p.Gln604Leu)
7g.117592222A=CA1737394657CFTRc.2055A= (p.Gln685=)
c.*1769A= (n.*1769A=)
c.1872A= (p.Gln624=)
c.*355A= (n.*355A=)
c.*1879A= (n.*1879A=)
c.1629A= (p.Gln543=)
c.1402-10604A= (n.1402-10604A=)
c.1965A= (p.Gln655=)
c.2145A= (p.Gln715=)
c.1812A= (p.Gln604=)
7g.117592222A>CCA368979462CFTRc.2055A>C (p.Gln685His)
c.*1769A>C (n.*1769A>C)
c.1872A>C (p.Gln624His)
c.*355A>C (n.*355A>C)
c.*1879A>C (n.*1879A>C)
c.1629A>C (p.Gln543His)
c.1402-10604A>C (n.1402-10604A>C)
c.1965A>C (p.Gln655His)
c.2145A>C (p.Gln715His)
c.1812A>C (p.Gln604His)
7g.117592222A>GCA457449022CFTRc.2055A>G (p.Gln685=)
c.*1769A>G (n.*1769A>G)
c.1872A>G (p.Gln624=)
c.*355A>G (n.*355A>G)
c.*1879A>G (n.*1879A>G)
c.1629A>G (p.Gln543=)
c.1402-10604A>G (n.1402-10604A>G)
c.1965A>G (p.Gln655=)
c.2145A>G (p.Gln715=)
c.1812A>G (p.Gln604=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117592222A>TCA368979464CFTRc.2055A>T (p.Gln685His)
c.*1769A>T (n.*1769A>T)
c.1872A>T (p.Gln624His)
c.*355A>T (n.*355A>T)
c.*1879A>T (n.*1879A>T)
c.1629A>T (p.Gln543His)
c.1402-10604A>T (n.1402-10604A>T)
c.1965A>T (p.Gln655His)
c.2145A>T (p.Gln715His)
c.1812A>T (p.Gln604His)
7g.117592223T>ACA368979467CFTRc.2056T>A (p.Ser686Thr)
c.*1770T>A (n.*1770T>A)
c.1873T>A (p.Ser625Thr)
c.*356T>A (n.*356T>A)
c.*1880T>A (n.*1880T>A)
c.1630T>A (p.Ser544Thr)
c.1402-10603T>A (n.1402-10603T>A)
c.1966T>A (p.Ser656Thr)
c.2146T>A (p.Ser716Thr)
c.1813T>A (p.Ser605Thr)
 dbSNP gnomAD v2 gnomAD v4
7g.117592223T>CCA368979469CFTRc.2056T>C (p.Ser686Pro)
c.*1770T>C (n.*1770T>C)
c.1873T>C (p.Ser625Pro)
c.*356T>C (n.*356T>C)
c.*1880T>C (n.*1880T>C)
c.1630T>C (p.Ser544Pro)
c.1402-10603T>C (n.1402-10603T>C)
c.1966T>C (p.Ser656Pro)
c.2146T>C (p.Ser716Pro)
c.1813T>C (p.Ser605Pro)
7g.117592223T>GCA368979471CFTRc.2056T>G (p.Ser686Ala)
c.*1770T>G (n.*1770T>G)
c.1873T>G (p.Ser625Ala)
c.*356T>G (n.*356T>G)
c.*1880T>G (n.*1880T>G)
c.1630T>G (p.Ser544Ala)
c.1402-10603T>G (n.1402-10603T>G)
c.1966T>G (p.Ser656Ala)
c.2146T>G (p.Ser716Ala)
c.1813T>G (p.Ser605Ala)
7g.117592223T=CA1737394663CFTRc.2056T= (p.Ser686=)
c.*1770T= (n.*1770T=)
c.1873T= (p.Ser625=)
c.*356T= (n.*356T=)
c.*1880T= (n.*1880T=)
c.1630T= (p.Ser544=)
c.1402-10603T= (n.1402-10603T=)
c.1966T= (p.Ser656=)
c.2146T= (p.Ser716=)
c.1813T= (p.Ser605=)
7g.117592224delCA2684619357CFTRc.2057del (p.Ser686PhefsTer?)
c.*1771del (n.*1771del)
c.1874del (p.Ser625PhefsTer?)
c.*357del (n.*357del)
c.*1881del (n.*1881del)
c.1631del (p.Ser544PhefsTer?)
c.1402-10602del (n.1402-10602del)
c.1967del (p.Ser656PhefsTer?)
c.2147del (p.Ser716PhefsTer?)
c.1814del (p.Ser605PhefsTer?)
 gnomAD v4
7g.117592224C>ACA4451135CFTRc.2057C>A (p.Ser686Tyr)
c.*1771C>A (n.*1771C>A)
c.1874C>A (p.Ser625Tyr)
c.*357C>A (n.*357C>A)
c.*1881C>A (n.*1881C>A)
c.1631C>A (p.Ser544Tyr)
c.1402-10602C>A (n.1402-10602C>A)
c.1967C>A (p.Ser656Tyr)
c.2147C>A (p.Ser716Tyr)
c.1814C>A (p.Ser605Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592224C=CA1737394669CFTRc.2057C= (p.Ser686=)
c.*1771C= (n.*1771C=)
c.1874C= (p.Ser625=)
c.*357C= (n.*357C=)
c.*1881C= (n.*1881C=)
c.1631C= (p.Ser544=)
c.1402-10602C= (n.1402-10602C=)
c.1967C= (p.Ser656=)
c.2147C= (p.Ser716=)
c.1814C= (p.Ser605=)
7g.117592224C>GCA368979475CFTRc.2057C>G (p.Ser686Cys)
c.*1771C>G (n.*1771C>G)
c.1874C>G (p.Ser625Cys)
c.*357C>G (n.*357C>G)
c.*1881C>G (n.*1881C>G)
c.1631C>G (p.Ser544Cys)
c.1402-10602C>G (n.1402-10602C>G)
c.1967C>G (p.Ser656Cys)
c.2147C>G (p.Ser716Cys)
c.1814C>G (p.Ser605Cys)
7g.117592224C>TCA368979476CFTRc.2057C>T (p.Ser686Phe)
c.*1771C>T (n.*1771C>T)
c.1874C>T (p.Ser625Phe)
c.*357C>T (n.*357C>T)
c.*1881C>T (n.*1881C>T)
c.1631C>T (p.Ser544Phe)
c.1402-10602C>T (n.1402-10602C>T)
c.1967C>T (p.Ser656Phe)
c.2147C>T (p.Ser716Phe)
c.1814C>T (p.Ser605Phe)
7g.117592224_117592225delinsACA2695208507CFTRc.2057_2058delinsA (p.Ser686TyrfsTer?)
c.*1771_*1772delinsA (n.*1771_*1772delinsA)
c.1874_1875delinsA (p.Ser625TyrfsTer?)
c.*357_*358delinsA (n.*357_*358delinsA)
c.*1881_*1882delinsA (n.*1881_*1882delinsA)
c.1631_1632delinsA (p.Ser544TyrfsTer?)
c.1402-10602_1402-10601delinsA (n.1402-10602_1402-10601delinsA)
c.1967_1968delinsA (p.Ser656TyrfsTer?)
c.2147_2148delinsA (p.Ser716TyrfsTer?)
c.1814_1815delinsA (p.Ser605TyrfsTer?)
7g.117592224_117592225delinsCTCA1737394673CFTRc.2057_2058delinsCT (p.Ser686=)
c.*1771_*1772delinsCT (n.*1771_*1772delinsCT)
c.1874_1875delinsCT (p.Ser625=)
c.*357_*358delinsCT (n.*357_*358delinsCT)
c.*1881_*1882delinsCT (n.*1881_*1882delinsCT)
c.1631_1632delinsCT (p.Ser544=)
c.1402-10602_1402-10601delinsCT (n.1402-10602_1402-10601delinsCT)
c.1967_1968delinsCT (p.Ser656=)
c.2147_2148delinsCT (p.Ser716=)
c.1814_1815delinsCT (p.Ser605=)
7g.117592224_117592225insACA2695208509CFTRc.2057_2058insA (p.Lys688Ter)
c.*1771_*1772insA (n.*1771_*1772insA)
c.1874_1875insA (p.Lys627Ter)
c.*357_*358insA (n.*357_*358insA)
c.*1881_*1882insA (n.*1881_*1882insA)
c.1631_1632insA (p.Lys546Ter)
c.1402-10602_1402-10601insA (n.1402-10602_1402-10601insA)
c.1967_1968insA (p.Lys658Ter)
c.2147_2148insA (p.Lys718Ter)
c.1814_1815insA (p.Lys607Ter)
7g.117592225T>ACA457449023CFTRc.2058T>A (p.Ser686=)
c.*1772T>A (n.*1772T>A)
c.1875T>A (p.Ser625=)
c.*358T>A (n.*358T>A)
c.*1882T>A (n.*1882T>A)
c.1632T>A (p.Ser544=)
c.1402-10601T>A (n.1402-10601T>A)
c.1968T>A (p.Ser656=)
c.2148T>A (p.Ser716=)
c.1815T>A (p.Ser605=)
 gnomAD v4
7g.117592225T>CCA457449024CFTRc.2058T>C (p.Ser686=)
c.*1772T>C (n.*1772T>C)
c.1875T>C (p.Ser625=)
c.*358T>C (n.*358T>C)
c.*1882T>C (n.*1882T>C)
c.1632T>C (p.Ser544=)
c.1402-10601T>C (n.1402-10601T>C)
c.1968T>C (p.Ser656=)
c.2148T>C (p.Ser716=)
c.1815T>C (p.Ser605=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117592225T>GCA457449025CFTRc.2058T>G (p.Ser686=)
c.*1772T>G (n.*1772T>G)
c.1875T>G (p.Ser625=)
c.*358T>G (n.*358T>G)
c.*1882T>G (n.*1882T>G)
c.1632T>G (p.Ser544=)
c.1402-10601T>G (n.1402-10601T>G)
c.1968T>G (p.Ser656=)
c.2148T>G (p.Ser716=)
c.1815T>G (p.Ser605=)
 ClinVar dbSNP
7g.117592225T=CA1737394677CFTRc.2058T= (p.Ser686=)
c.*1772T= (n.*1772T=)
c.1875T= (p.Ser625=)
c.*358T= (n.*358T=)
c.*1882T= (n.*1882T=)
c.1632T= (p.Ser544=)
c.1402-10601T= (n.1402-10601T=)
c.1968T= (p.Ser656=)
c.2148T= (p.Ser716=)
c.1815T= (p.Ser605=)
7g.117592225_117592228delCA2695208510CFTRc.2058_2061del (p.Phe687AsnfsTer?)
c.*1772_*1775del (n.*1772_*1775del)
c.1875_1878del (p.Phe626AsnfsTer?)
c.*358_*361del (n.*358_*361del)
c.*1882_*1885del (n.*1882_*1885del)
c.1632_1635del (p.Phe545AsnfsTer?)
c.1402-10601_1402-10598del (n.1402-10601_1402-10598del)
c.1968_1971del (p.Phe657AsnfsTer?)
c.2148_2151del (p.Phe717AsnfsTer?)
c.1815_1818del (p.Phe606AsnfsTer?)
7g.117592225_117592228dupCA2695208508CFTRc.2058_2061dup (p.Lys688PhefsTer2)
c.*1772_*1775dup (n.*1772_*1775dup)
c.1875_1878dup (p.Lys627PhefsTer2)
c.*358_*361dup (n.*358_*361dup)
c.*1882_*1885dup (n.*1882_*1885dup)
c.1632_1635dup (p.Lys546PhefsTer2)
c.1402-10601_1402-10598dup (n.1402-10601_1402-10598dup)
c.1968_1971dup (p.Lys658PhefsTer2)
c.2148_2151dup (p.Lys718PhefsTer2)
c.1815_1818dup (p.Lys607PhefsTer2)
 ClinVar
7g.117592228delCA577680765CFTRc.2061del (p.Phe687LeufsTer?)
c.*1775del (n.*1775del)
c.1878del (p.Phe626LeufsTer?)
c.*361del (n.*361del)
c.*1885del (n.*1885del)
c.1635del (p.Phe545LeufsTer?)
c.1402-10598del (n.1402-10598del)
c.1971del (p.Phe657LeufsTer?)
c.2151del (p.Phe717LeufsTer?)
c.1818del (p.Phe606LeufsTer?)
 dbSNP gnomAD v2 gnomAD v4
7g.117592226T>ACA368979480CFTRc.2059T>A (p.Phe687Ile)
c.*1773T>A (n.*1773T>A)
c.1876T>A (p.Phe626Ile)
c.*359T>A (n.*359T>A)
c.*1883T>A (n.*1883T>A)
c.1633T>A (p.Phe545Ile)
c.1402-10600T>A (n.1402-10600T>A)
c.1969T>A (p.Phe657Ile)
c.2149T>A (p.Phe717Ile)
c.1816T>A (p.Phe606Ile)
7g.117592226T>CCA164947754CFTRc.2059T>C (p.Phe687Leu)
c.*1773T>C (n.*1773T>C)
c.1876T>C (p.Phe626Leu)
c.*359T>C (n.*359T>C)
c.*1883T>C (n.*1883T>C)
c.1633T>C (p.Phe545Leu)
c.1402-10600T>C (n.1402-10600T>C)
c.1969T>C (p.Phe657Leu)
c.2149T>C (p.Phe717Leu)
c.1816T>C (p.Phe606Leu)
 dbSNP
7g.117592226T>GCA368979483CFTRc.2059T>G (p.Phe687Val)
c.*1773T>G (n.*1773T>G)
c.1876T>G (p.Phe626Val)
c.*359T>G (n.*359T>G)
c.*1883T>G (n.*1883T>G)
c.1633T>G (p.Phe545Val)
c.1402-10600T>G (n.1402-10600T>G)
c.1969T>G (p.Phe657Val)
c.2149T>G (p.Phe717Val)
c.1816T>G (p.Phe606Val)
7g.117592226T=CA1737394681CFTRc.2059T= (p.Phe687=)
c.*1773T= (n.*1773T=)
c.1876T= (p.Phe626=)
c.*359T= (n.*359T=)
c.*1883T= (n.*1883T=)
c.1633T= (p.Phe545=)
c.1402-10600T= (n.1402-10600T=)
c.1969T= (p.Phe657=)
c.2149T= (p.Phe717=)
c.1816T= (p.Phe606=)
7g.117592227T>ACA368979487CFTRc.2060T>A (p.Phe687Tyr)
c.*1774T>A (n.*1774T>A)
c.1877T>A (p.Phe626Tyr)
c.*360T>A (n.*360T>A)
c.*1884T>A (n.*1884T>A)
c.1634T>A (p.Phe545Tyr)
c.1402-10599T>A (n.1402-10599T>A)
c.1970T>A (p.Phe657Tyr)
c.2150T>A (p.Phe717Tyr)
c.1817T>A (p.Phe606Tyr)
7g.117592227T>CCA368979489CFTRc.2060T>C (p.Phe687Ser)
c.*1774T>C (n.*1774T>C)
c.1877T>C (p.Phe626Ser)
c.*360T>C (n.*360T>C)
c.*1884T>C (n.*1884T>C)
c.1634T>C (p.Phe545Ser)
c.1402-10599T>C (n.1402-10599T>C)
c.1970T>C (p.Phe657Ser)
c.2150T>C (p.Phe717Ser)
c.1817T>C (p.Phe606Ser)
7g.117592227T>GCA368979492CFTRc.2060T>G (p.Phe687Cys)
c.*1774T>G (n.*1774T>G)
c.1877T>G (p.Phe626Cys)
c.*360T>G (n.*360T>G)
c.*1884T>G (n.*1884T>G)
c.1634T>G (p.Phe545Cys)
c.1402-10599T>G (n.1402-10599T>G)
c.1970T>G (p.Phe657Cys)
c.2150T>G (p.Phe717Cys)
c.1817T>G (p.Phe606Cys)
7g.117592228T>ACA368979494CFTRc.2061T>A (p.Phe687Leu)
c.*1775T>A (n.*1775T>A)
c.1878T>A (p.Phe626Leu)
c.*361T>A (n.*361T>A)
c.*1885T>A (n.*1885T>A)
c.1635T>A (p.Phe545Leu)
c.1402-10598T>A (n.1402-10598T>A)
c.1971T>A (p.Phe657Leu)
c.2151T>A (p.Phe717Leu)
c.1818T>A (p.Phe606Leu)
7g.117592228T>CCA457449026CFTRc.2061T>C (p.Phe687=)
c.*1775T>C (n.*1775T>C)
c.1878T>C (p.Phe626=)
c.*361T>C (n.*361T>C)
c.*1885T>C (n.*1885T>C)
c.1635T>C (p.Phe545=)
c.1402-10598T>C (n.1402-10598T>C)
c.1971T>C (p.Phe657=)
c.2151T>C (p.Phe717=)
c.1818T>C (p.Phe606=)
 ClinVar
7g.117592228T>GCA368979497CFTRc.2061T>G (p.Phe687Leu)
c.*1775T>G (n.*1775T>G)
c.1878T>G (p.Phe626Leu)
c.*361T>G (n.*361T>G)
c.*1885T>G (n.*1885T>G)
c.1635T>G (p.Phe545Leu)
c.1402-10598T>G (n.1402-10598T>G)
c.1971T>G (p.Phe657Leu)
c.2151T>G (p.Phe717Leu)
c.1818T>G (p.Phe606Leu)
7g.117592229A=CA1737394683CFTRc.2062A= (p.Lys688=)
c.*1776A= (n.*1776A=)
c.1879A= (p.Lys627=)
c.*362A= (n.*362A=)
c.*1886A= (n.*1886A=)
c.1636A= (p.Lys546=)
c.1402-10597A= (n.1402-10597A=)
c.1972A= (p.Lys658=)
c.2152A= (p.Lys718=)
c.1819A= (p.Lys607=)
7g.117592229A>CCA368979500CFTRc.2062A>C (p.Lys688Gln)
c.*1776A>C (n.*1776A>C)
c.1879A>C (p.Lys627Gln)
c.*362A>C (n.*362A>C)
c.*1886A>C (n.*1886A>C)
c.1636A>C (p.Lys546Gln)
c.1402-10597A>C (n.1402-10597A>C)
c.1972A>C (p.Lys658Gln)
c.2152A>C (p.Lys718Gln)
c.1819A>C (p.Lys607Gln)
 dbSNP gnomAD v2 gnomAD v4
7g.117592229A>GCA368979502CFTRc.2062A>G (p.Lys688Glu)
c.*1776A>G (n.*1776A>G)
c.1879A>G (p.Lys627Glu)
c.*362A>G (n.*362A>G)
c.*1886A>G (n.*1886A>G)
c.1636A>G (p.Lys546Glu)
c.1402-10597A>G (n.1402-10597A>G)
c.1972A>G (p.Lys658Glu)
c.2152A>G (p.Lys718Glu)
c.1819A>G (p.Lys607Glu)
7g.117592229A>TCA368979505CFTRc.2062A>T (p.Lys688Ter)
c.*1776A>T (n.*1776A>T)
c.1879A>T (p.Lys627Ter)
c.*362A>T (n.*362A>T)
c.*1886A>T (n.*1886A>T)
c.1636A>T (p.Lys546Ter)
c.1402-10597A>T (n.1402-10597A>T)
c.1972A>T (p.Lys658Ter)
c.2152A>T (p.Lys718Ter)
c.1819A>T (p.Lys607Ter)
7g.117592229_117592233delinsTTTTTGTTTGCA2580076517CFTRc.2062_2066delinsTTTTTGTTTG (p.Lys688PhefsTer?)
c.*1776_*1780delinsTTTTTGTTTG (n.*1776_*1780delinsTTTTTGTTTG)
c.1879_1883delinsTTTTTGTTTG (p.Lys627PhefsTer?)
c.*362_*366delinsTTTTTGTTTG (n.*362_*366delinsTTTTTGTTTG)
c.*1886_*1890delinsTTTTTGTTTG (n.*1886_*1890delinsTTTTTGTTTG)
c.1636_1640delinsTTTTTGTTTG (p.Lys546PhefsTer?)
c.1402-10597_1402-10593delinsTTTTTGTTTG (n.1402-10597_1402-10593delinsTTTTTGTTTG)
c.1972_1976delinsTTTTTGTTTG (p.Lys658PhefsTer?)
c.2152_2156delinsTTTTTGTTTG (p.Lys718PhefsTer?)
c.1819_1823delinsTTTTTGTTTG (p.Lys607PhefsTer?)
 ClinVar
7g.117592230A>CCA368979508CFTRc.2063A>C (p.Lys688Thr)
c.*1777A>C (n.*1777A>C)
c.1880A>C (p.Lys627Thr)
c.*363A>C (n.*363A>C)
c.*1887A>C (n.*1887A>C)
c.1637A>C (p.Lys546Thr)
c.1402-10596A>C (n.1402-10596A>C)
c.1973A>C (p.Lys658Thr)
c.2153A>C (p.Lys718Thr)
c.1820A>C (p.Lys607Thr)
7g.117592230A>GCA368979509CFTRc.2063A>G (p.Lys688Arg)
c.*1777A>G (n.*1777A>G)
c.1880A>G (p.Lys627Arg)
c.*363A>G (n.*363A>G)
c.*1887A>G (n.*1887A>G)
c.1637A>G (p.Lys546Arg)
c.1402-10596A>G (n.1402-10596A>G)
c.1973A>G (p.Lys658Arg)
c.2153A>G (p.Lys718Arg)
c.1820A>G (p.Lys607Arg)
7g.117592230A>TCA368979511CFTRc.2063A>T (p.Lys688Ile)
c.*1777A>T (n.*1777A>T)
c.1880A>T (p.Lys627Ile)
c.*363A>T (n.*363A>T)
c.*1887A>T (n.*1887A>T)
c.1637A>T (p.Lys546Ile)
c.1402-10596A>T (n.1402-10596A>T)
c.1973A>T (p.Lys658Ile)
c.2153A>T (p.Lys718Ile)
c.1820A>T (p.Lys607Ile)
 gnomAD v4
7g.117592231A>CCA368979514CFTRc.2064A>C (p.Lys688Asn)
c.*1778A>C (n.*1778A>C)
c.1881A>C (p.Lys627Asn)
c.*364A>C (n.*364A>C)
c.*1888A>C (n.*1888A>C)
c.1638A>C (p.Lys546Asn)
c.1402-10595A>C (n.1402-10595A>C)
c.1974A>C (p.Lys658Asn)
c.2154A>C (p.Lys718Asn)
c.1821A>C (p.Lys607Asn)
7g.117592231A>GCA457449027CFTRc.2064A>G (p.Lys688=)
c.*1778A>G (n.*1778A>G)
c.1881A>G (p.Lys627=)
c.*364A>G (n.*364A>G)
c.*1888A>G (n.*1888A>G)
c.1638A>G (p.Lys546=)
c.1402-10595A>G (n.1402-10595A>G)
c.1974A>G (p.Lys658=)
c.2154A>G (p.Lys718=)
c.1821A>G (p.Lys607=)
 ClinVar
7g.117592231A>TCA368979517CFTRc.2064A>T (p.Lys688Asn)
c.*1778A>T (n.*1778A>T)
c.1881A>T (p.Lys627Asn)
c.*364A>T (n.*364A>T)
c.*1888A>T (n.*1888A>T)
c.1638A>T (p.Lys546Asn)
c.1402-10595A>T (n.1402-10595A>T)
c.1974A>T (p.Lys658Asn)
c.2154A>T (p.Lys718Asn)
c.1821A>T (p.Lys607Asn)
7g.117592232C>ACA368979520CFTRc.2065C>A (p.Gln689Lys)
c.*1779C>A (n.*1779C>A)
c.1882C>A (p.Gln628Lys)
c.*365C>A (n.*365C>A)
c.*1889C>A (n.*1889C>A)
c.1639C>A (p.Gln547Lys)
c.1402-10594C>A (n.1402-10594C>A)
c.1975C>A (p.Gln659Lys)
c.2155C>A (p.Gln719Lys)
c.1822C>A (p.Gln608Lys)
7g.117592232C=CA1737394686CFTRc.2065C= (p.Gln689=)
c.*1779C= (n.*1779C=)
c.1882C= (p.Gln628=)
c.*365C= (n.*365C=)
c.*1889C= (n.*1889C=)
c.1639C= (p.Gln547=)
c.1402-10594C= (n.1402-10594C=)
c.1975C= (p.Gln659=)
c.2155C= (p.Gln719=)
c.1822C= (p.Gln608=)
7g.117592232C>GCA368979524CFTRc.2065C>G (p.Gln689Glu)
c.*1779C>G (n.*1779C>G)
c.1882C>G (p.Gln628Glu)
c.*365C>G (n.*365C>G)
c.*1889C>G (n.*1889C>G)
c.1639C>G (p.Gln547Glu)
c.1402-10594C>G (n.1402-10594C>G)
c.1975C>G (p.Gln659Glu)
c.2155C>G (p.Gln719Glu)
c.1822C>G (p.Gln608Glu)
7g.117592232C>TCA368979522CFTRc.2065C>T (p.Gln689Ter)
c.*1779C>T (n.*1779C>T)
c.1882C>T (p.Gln628Ter)
c.*365C>T (n.*365C>T)
c.*1889C>T (n.*1889C>T)
c.1639C>T (p.Gln547Ter)
c.1402-10594C>T (n.1402-10594C>T)
c.1975C>T (p.Gln659Ter)
c.2155C>T (p.Gln719Ter)
c.1822C>T (p.Gln608Ter)
 ClinVar dbSNP
7g.117592233A=CA1737394687CFTRc.2066A= (p.Gln689=)
c.*1780A= (n.*1780A=)
c.1883A= (p.Gln628=)
c.*366A= (n.*366A=)
c.*1890A= (n.*1890A=)
c.1640A= (p.Gln547=)
c.1402-10593A= (n.1402-10593A=)
c.1976A= (p.Gln659=)
c.2156A= (p.Gln719=)
c.1823A= (p.Gln608=)
7g.117592233A>CCA368979527CFTRc.2066A>C (p.Gln689Pro)
c.*1780A>C (n.*1780A>C)
c.1883A>C (p.Gln628Pro)
c.*366A>C (n.*366A>C)
c.*1890A>C (n.*1890A>C)
c.1640A>C (p.Gln547Pro)
c.1402-10593A>C (n.1402-10593A>C)
c.1976A>C (p.Gln659Pro)
c.2156A>C (p.Gln719Pro)
c.1823A>C (p.Gln608Pro)
 ClinVar dbSNP
7g.117592233A>GCA368979528CFTRc.2066A>G (p.Gln689Arg)
c.*1780A>G (n.*1780A>G)
c.1883A>G (p.Gln628Arg)
c.*366A>G (n.*366A>G)
c.*1890A>G (n.*1890A>G)
c.1640A>G (p.Gln547Arg)
c.1402-10593A>G (n.1402-10593A>G)
c.1976A>G (p.Gln659Arg)
c.2156A>G (p.Gln719Arg)
c.1823A>G (p.Gln608Arg)
 gnomAD v4
7g.117592233A>TCA368979531CFTRc.2066A>T (p.Gln689Leu)
c.*1780A>T (n.*1780A>T)
c.1883A>T (p.Gln628Leu)
c.*366A>T (n.*366A>T)
c.*1890A>T (n.*1890A>T)
c.1640A>T (p.Gln547Leu)
c.1402-10593A>T (n.1402-10593A>T)
c.1976A>T (p.Gln659Leu)
c.2156A>T (p.Gln719Leu)
c.1823A>T (p.Gln608Leu)
7g.117592234G>ACA457449028CFTRc.2067G>A (p.Gln689=)
c.*1781G>A (n.*1781G>A)
c.1884G>A (p.Gln628=)
c.*367G>A (n.*367G>A)
c.*1891G>A (n.*1891G>A)
c.1641G>A (p.Gln547=)
c.1402-10592G>A (n.1402-10592G>A)
c.1977G>A (p.Gln659=)
c.2157G>A (p.Gln719=)
c.1824G>A (p.Gln608=)
 ClinVar gnomAD v4 COSMIC
7g.117592234G>CCA368979533CFTRc.2067G>C (p.Gln689His)
c.*1781G>C (n.*1781G>C)
c.1884G>C (p.Gln628His)
c.*367G>C (n.*367G>C)
c.*1891G>C (n.*1891G>C)
c.1641G>C (p.Gln547His)
c.1402-10592G>C (n.1402-10592G>C)
c.1977G>C (p.Gln659His)
c.2157G>C (p.Gln719His)
c.1824G>C (p.Gln608His)
7g.117592234G>TCA368979535CFTRc.2067G>T (p.Gln689His)
c.*1781G>T (n.*1781G>T)
c.1884G>T (p.Gln628His)
c.*367G>T (n.*367G>T)
c.*1891G>T (n.*1891G>T)
c.1641G>T (p.Gln547His)
c.1402-10592G>T (n.1402-10592G>T)
c.1977G>T (p.Gln659His)
c.2157G>T (p.Gln719His)
c.1824G>T (p.Gln608His)
7g.117592235A=CA1737394688CFTRc.2068A= (p.Thr690=)
c.*1782A= (n.*1782A=)
c.1885A= (p.Thr629=)
c.*368A= (n.*368A=)
c.*1892A= (n.*1892A=)
c.1642A= (p.Thr548=)
c.1402-10591A= (n.1402-10591A=)
c.1978A= (p.Thr660=)
c.2158A= (p.Thr720=)
c.1825A= (p.Thr609=)
7g.117592235A>CCA368979539CFTRc.2068A>C (p.Thr690Pro)
c.*1782A>C (n.*1782A>C)
c.1885A>C (p.Thr629Pro)
c.*368A>C (n.*368A>C)
c.*1892A>C (n.*1892A>C)
c.1642A>C (p.Thr548Pro)
c.1402-10591A>C (n.1402-10591A>C)
c.1978A>C (p.Thr660Pro)
c.2158A>C (p.Thr720Pro)
c.1825A>C (p.Thr609Pro)
7g.117592235A>GCA4451136CFTRc.2068A>G (p.Thr690Ala)
c.*1782A>G (n.*1782A>G)
c.1885A>G (p.Thr629Ala)
c.*368A>G (n.*368A>G)
c.*1892A>G (n.*1892A>G)
c.1642A>G (p.Thr548Ala)
c.1402-10591A>G (n.1402-10591A>G)
c.1978A>G (p.Thr660Ala)
c.2158A>G (p.Thr720Ala)
c.1825A>G (p.Thr609Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592235A>TCA368979542CFTRc.2068A>T (p.Thr690Ser)
c.*1782A>T (n.*1782A>T)
c.1885A>T (p.Thr629Ser)
c.*368A>T (n.*368A>T)
c.*1892A>T (n.*1892A>T)
c.1642A>T (p.Thr548Ser)
c.1402-10591A>T (n.1402-10591A>T)
c.1978A>T (p.Thr660Ser)
c.2158A>T (p.Thr720Ser)
c.1825A>T (p.Thr609Ser)
7g.117592236C>ACA368979546CFTRc.2069C>A (p.Thr690Asn)
c.*1783C>A (n.*1783C>A)
c.1886C>A (p.Thr629Asn)
c.*369C>A (n.*369C>A)
c.*1893C>A (n.*1893C>A)
c.1643C>A (p.Thr548Asn)
c.1402-10590C>A (n.1402-10590C>A)
c.1979C>A (p.Thr660Asn)
c.2159C>A (p.Thr720Asn)
c.1826C>A (p.Thr609Asn)
7g.117592236C>GCA368979548CFTRc.2069C>G (p.Thr690Ser)
c.*1783C>G (n.*1783C>G)
c.1886C>G (p.Thr629Ser)
c.*369C>G (n.*369C>G)
c.*1893C>G (n.*1893C>G)
c.1643C>G (p.Thr548Ser)
c.1402-10590C>G (n.1402-10590C>G)
c.1979C>G (p.Thr660Ser)
c.2159C>G (p.Thr720Ser)
c.1826C>G (p.Thr609Ser)
7g.117592236C>TCA368979551CFTRc.2069C>T (p.Thr690Ile)
c.*1783C>T (n.*1783C>T)
c.1886C>T (p.Thr629Ile)
c.*369C>T (n.*369C>T)
c.*1893C>T (n.*1893C>T)
c.1643C>T (p.Thr548Ile)
c.1402-10590C>T (n.1402-10590C>T)
c.1979C>T (p.Thr660Ile)
c.2159C>T (p.Thr720Ile)
c.1826C>T (p.Thr609Ile)
7g.117592237T>ACA457449029CFTRc.2070T>A (p.Thr690=)
c.*1784T>A (n.*1784T>A)
c.1887T>A (p.Thr629=)
c.*370T>A (n.*370T>A)
c.*1894T>A (n.*1894T>A)
c.1644T>A (p.Thr548=)
c.1402-10589T>A (n.1402-10589T>A)
c.1980T>A (p.Thr660=)
c.2160T>A (p.Thr720=)
c.1827T>A (p.Thr609=)
7g.117592237T>CCA457449031CFTRc.2070T>C (p.Thr690=)
c.*1784T>C (n.*1784T>C)
c.1887T>C (p.Thr629=)
c.*370T>C (n.*370T>C)
c.*1894T>C (n.*1894T>C)
c.1644T>C (p.Thr548=)
c.1402-10589T>C (n.1402-10589T>C)
c.1980T>C (p.Thr660=)
c.2160T>C (p.Thr720=)
c.1827T>C (p.Thr609=)
 ClinVar gnomAD v4
7g.117592237T>GCA457449030CFTRc.2070T>G (p.Thr690=)
c.*1784T>G (n.*1784T>G)
c.1887T>G (p.Thr629=)
c.*370T>G (n.*370T>G)
c.*1894T>G (n.*1894T>G)
c.1644T>G (p.Thr548=)
c.1402-10589T>G (n.1402-10589T>G)
c.1980T>G (p.Thr660=)
c.2160T>G (p.Thr720=)
c.1827T>G (p.Thr609=)
 gnomAD v4
7g.117592238G>ACA368979554CFTRc.2071G>A (p.Gly691Arg)
c.*1785G>A (n.*1785G>A)
c.1888G>A (p.Gly630Arg)
c.*371G>A (n.*371G>A)
c.*1895G>A (n.*1895G>A)
c.1645G>A (p.Gly549Arg)
c.1402-10588G>A (n.1402-10588G>A)
c.1981G>A (p.Gly661Arg)
c.2161G>A (p.Gly721Arg)
c.1828G>A (p.Gly610Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117592238G>CCA368979556CFTRc.2071G>C (p.Gly691Arg)
c.*1785G>C (n.*1785G>C)
c.1888G>C (p.Gly630Arg)
c.*371G>C (n.*371G>C)
c.*1895G>C (n.*1895G>C)
c.1645G>C (p.Gly549Arg)
c.1402-10588G>C (n.1402-10588G>C)
c.1981G>C (p.Gly661Arg)
c.2161G>C (p.Gly721Arg)
c.1828G>C (p.Gly610Arg)
7g.117592238G=CA1737394689CFTRc.2071G= (p.Gly691=)
c.*1785G= (n.*1785G=)
c.1888G= (p.Gly630=)
c.*371G= (n.*371G=)
c.*1895G= (n.*1895G=)
c.1645G= (p.Gly549=)
c.1402-10588G= (n.1402-10588G=)
c.1981G= (p.Gly661=)
c.2161G= (p.Gly721=)
c.1828G= (p.Gly610=)
7g.117592238G>TCA368979558CFTRc.2071G>T (p.Gly691Ter)
c.*1785G>T (n.*1785G>T)
c.1888G>T (p.Gly630Ter)
c.*371G>T (n.*371G>T)
c.*1895G>T (n.*1895G>T)
c.1645G>T (p.Gly549Ter)
c.1402-10588G>T (n.1402-10588G>T)
c.1981G>T (p.Gly661Ter)
c.2161G>T (p.Gly721Ter)
c.1828G>T (p.Gly610Ter)
7g.117592239G>ACA368979560CFTRc.2072G>A (p.Gly691Glu)
c.*1786G>A (n.*1786G>A)
c.1889G>A (p.Gly630Glu)
c.*372G>A (n.*372G>A)
c.*1896G>A (n.*1896G>A)
c.1646G>A (p.Gly549Glu)
c.1402-10587G>A (n.1402-10587G>A)
c.1982G>A (p.Gly661Glu)
c.2162G>A (p.Gly721Glu)
c.1829G>A (p.Gly610Glu)
 dbSNP
7g.117592239G>CCA368979561CFTRc.2072G>C (p.Gly691Ala)
c.*1786G>C (n.*1786G>C)
c.1889G>C (p.Gly630Ala)
c.*372G>C (n.*372G>C)
c.*1896G>C (n.*1896G>C)
c.1646G>C (p.Gly549Ala)
c.1402-10587G>C (n.1402-10587G>C)
c.1982G>C (p.Gly661Ala)
c.2162G>C (p.Gly721Ala)
c.1829G>C (p.Gly610Ala)
7g.117592239G=CA1737394690CFTRc.2072G= (p.Gly691=)
c.*1786G= (n.*1786G=)
c.1889G= (p.Gly630=)
c.*372G= (n.*372G=)
c.*1896G= (n.*1896G=)
c.1646G= (p.Gly549=)
c.1402-10587G= (n.1402-10587G=)
c.1982G= (p.Gly661=)
c.2162G= (p.Gly721=)
c.1829G= (p.Gly610=)
7g.117592239G>TCA368979562CFTRc.2072G>T (p.Gly691Val)
c.*1786G>T (n.*1786G>T)
c.1889G>T (p.Gly630Val)
c.*372G>T (n.*372G>T)
c.*1896G>T (n.*1896G>T)
c.1646G>T (p.Gly549Val)
c.1402-10587G>T (n.1402-10587G>T)
c.1982G>T (p.Gly661Val)
c.2162G>T (p.Gly721Val)
c.1829G>T (p.Gly610Val)
 ClinVar gnomAD v4
7g.117592240A>CCA457449032CFTRc.2073A>C (p.Gly691=)
c.*1787A>C (n.*1787A>C)
c.1890A>C (p.Gly630=)
c.*373A>C (n.*373A>C)
c.*1897A>C (n.*1897A>C)
c.1647A>C (p.Gly549=)
c.1402-10586A>C (n.1402-10586A>C)
c.1983A>C (p.Gly661=)
c.2163A>C (p.Gly721=)
c.1830A>C (p.Gly610=)
7g.117592240A>GCA457449033CFTRc.2073A>G (p.Gly691=)
c.*1787A>G (n.*1787A>G)
c.1890A>G (p.Gly630=)
c.*373A>G (n.*373A>G)
c.*1897A>G (n.*1897A>G)
c.1647A>G (p.Gly549=)
c.1402-10586A>G (n.1402-10586A>G)
c.1983A>G (p.Gly661=)
c.2163A>G (p.Gly721=)
c.1830A>G (p.Gly610=)
7g.117592240A>TCA457449034CFTRc.2073A>T (p.Gly691=)
c.*1787A>T (n.*1787A>T)
c.1890A>T (p.Gly630=)
c.*373A>T (n.*373A>T)
c.*1897A>T (n.*1897A>T)
c.1647A>T (p.Gly549=)
c.1402-10586A>T (n.1402-10586A>T)
c.1983A>T (p.Gly661=)
c.2163A>T (p.Gly721=)
c.1830A>T (p.Gly610=)
 COSMIC
7g.117592241G>ACA368979563CFTRc.2074G>A (p.Glu692Lys)
c.*1788G>A (n.*1788G>A)
c.1891G>A (p.Glu631Lys)
c.*374G>A (n.*374G>A)
c.*1898G>A (n.*1898G>A)
c.1648G>A (p.Glu550Lys)
c.1402-10585G>A (n.1402-10585G>A)
c.1984G>A (p.Glu662Lys)
c.2164G>A (p.Glu722Lys)
c.1831G>A (p.Glu611Lys)
7g.117592241G>CCA368979564CFTRc.2074G>C (p.Glu692Gln)
c.*1788G>C (n.*1788G>C)
c.1891G>C (p.Glu631Gln)
c.*374G>C (n.*374G>C)
c.*1898G>C (n.*1898G>C)
c.1648G>C (p.Glu550Gln)
c.1402-10585G>C (n.1402-10585G>C)
c.1984G>C (p.Glu662Gln)
c.2164G>C (p.Glu722Gln)
c.1831G>C (p.Glu611Gln)
7g.117592241G=CA1737394691CFTRc.2074G= (p.Glu692=)
c.*1788G= (n.*1788G=)
c.1891G= (p.Glu631=)
c.*374G= (n.*374G=)
c.*1898G= (n.*1898G=)
c.1648G= (p.Glu550=)
c.1402-10585G= (n.1402-10585G=)
c.1984G= (p.Glu662=)
c.2164G= (p.Glu722=)
c.1831G= (p.Glu611=)
7g.117592241G>TCA326742CFTRc.2074G>T (p.Glu692Ter)
c.*1788G>T (n.*1788G>T)
c.1891G>T (p.Glu631Ter)
c.*374G>T (n.*374G>T)
c.*1898G>T (n.*1898G>T)
c.1648G>T (p.Glu550Ter)
c.1402-10585G>T (n.1402-10585G>T)
c.1984G>T (p.Glu662Ter)
c.2164G>T (p.Glu722Ter)
c.1831G>T (p.Glu611Ter)
 ClinVar dbSNP
7g.117592242A=CA1737394693CFTRc.2075A= (p.Glu692=)
c.*1789A= (n.*1789A=)
c.1892A= (p.Glu631=)
c.*375A= (n.*375A=)
c.*1899A= (n.*1899A=)
c.1649A= (p.Glu550=)
c.1402-10584A= (n.1402-10584A=)
c.1985A= (p.Glu662=)
c.2165A= (p.Glu722=)
c.1832A= (p.Glu611=)
7g.117592242A>CCA368979567CFTRc.2075A>C (p.Glu692Ala)
c.*1789A>C (n.*1789A>C)
c.1892A>C (p.Glu631Ala)
c.*375A>C (n.*375A>C)
c.*1899A>C (n.*1899A>C)
c.1649A>C (p.Glu550Ala)
c.1402-10584A>C (n.1402-10584A>C)
c.1985A>C (p.Glu662Ala)
c.2165A>C (p.Glu722Ala)
c.1832A>C (p.Glu611Ala)
7g.117592242A>GCA368979565CFTRc.2075A>G (p.Glu692Gly)
c.*1789A>G (n.*1789A>G)
c.1892A>G (p.Glu631Gly)
c.*375A>G (n.*375A>G)
c.*1899A>G (n.*1899A>G)
c.1649A>G (p.Glu550Gly)
c.1402-10584A>G (n.1402-10584A>G)
c.1985A>G (p.Glu662Gly)
c.2165A>G (p.Glu722Gly)
c.1832A>G (p.Glu611Gly)
 dbSNP
7g.117592242A>TCA368979566CFTRc.2075A>T (p.Glu692Val)
c.*1789A>T (n.*1789A>T)
c.1892A>T (p.Glu631Val)
c.*375A>T (n.*375A>T)
c.*1899A>T (n.*1899A>T)
c.1649A>T (p.Glu550Val)
c.1402-10584A>T (n.1402-10584A>T)
c.1985A>T (p.Glu662Val)
c.2165A>T (p.Glu722Val)
c.1832A>T (p.Glu611Val)
 ClinVar
7g.117592243G>ACA457449035CFTRc.2076G>A (p.Glu692=)
c.*1790G>A (n.*1790G>A)
c.1893G>A (p.Glu631=)
c.*376G>A (n.*376G>A)
c.*1900G>A (n.*1900G>A)
c.1650G>A (p.Glu550=)
c.1402-10583G>A (n.1402-10583G>A)
c.1986G>A (p.Glu662=)
c.2166G>A (p.Glu722=)
c.1833G>A (p.Glu611=)
 ClinVar
7g.117592243G>CCA368979568CFTRc.2076G>C (p.Glu692Asp)
c.*1790G>C (n.*1790G>C)
c.1893G>C (p.Glu631Asp)
c.*376G>C (n.*376G>C)
c.*1900G>C (n.*1900G>C)
c.1650G>C (p.Glu550Asp)
c.1402-10583G>C (n.1402-10583G>C)
c.1986G>C (p.Glu662Asp)
c.2166G>C (p.Glu722Asp)
c.1833G>C (p.Glu611Asp)
7g.117592243G>TCA368979569CFTRc.2076G>T (p.Glu692Asp)
c.*1790G>T (n.*1790G>T)
c.1893G>T (p.Glu631Asp)
c.*376G>T (n.*376G>T)
c.*1900G>T (n.*1900G>T)
c.1650G>T (p.Glu550Asp)
c.1402-10583G>T (n.1402-10583G>T)
c.1986G>T (p.Glu662Asp)
c.2166G>T (p.Glu722Asp)
c.1833G>T (p.Glu611Asp)
7g.117592243_117592245delinsGTTCA1737394694CFTRc.2076_2078delinsGTT (p.Glu692=)
c.*1790_*1792delinsGTT (n.*1790_*1792delinsGTT)
c.1893_1895delinsGTT (p.Glu631=)
c.*376_*378delinsGTT (n.*376_*378delinsGTT)
c.*1900_*1902delinsGTT (n.*1900_*1902delinsGTT)
c.1650_1652delinsGTT (p.Glu550=)
c.1402-10583_1402-10581delinsGTT (n.1402-10583_1402-10581delinsGTT)
c.1986_1988delinsGTT (p.Glu662=)
c.2166_2168delinsGTT (p.Glu722=)
c.1833_1835delinsGTT (p.Glu611=)
7g.117592244T>ACA368979570CFTRc.2077T>A (p.Phe693Ile)
c.*1791T>A (n.*1791T>A)
c.1894T>A (p.Phe632Ile)
c.*377T>A (n.*377T>A)
c.*1901T>A (n.*1901T>A)
c.1651T>A (p.Phe551Ile)
c.1402-10582T>A (n.1402-10582T>A)
c.1987T>A (p.Phe663Ile)
c.2167T>A (p.Phe723Ile)
c.1834T>A (p.Phe612Ile)
7g.117592244T>CCA326744CFTRc.2077T>C (p.Phe693Leu)
c.*1791T>C (n.*1791T>C)
c.1894T>C (p.Phe632Leu)
c.*377T>C (n.*377T>C)
c.*1901T>C (n.*1901T>C)
c.1651T>C (p.Phe551Leu)
c.1402-10582T>C (n.1402-10582T>C)
c.1987T>C (p.Phe663Leu)
c.2167T>C (p.Phe723Leu)
c.1834T>C (p.Phe612Leu)
 ClinVar dbSNP
7g.117592244T>GCA368979572CFTRc.2077T>G (p.Phe693Val)
c.*1791T>G (n.*1791T>G)
c.1894T>G (p.Phe632Val)
c.*377T>G (n.*377T>G)
c.*1901T>G (n.*1901T>G)
c.1651T>G (p.Phe551Val)
c.1402-10582T>G (n.1402-10582T>G)
c.1987T>G (p.Phe663Val)
c.2167T>G (p.Phe723Val)
c.1834T>G (p.Phe612Val)
7g.117592244T=CA1737394698CFTRc.2077T= (p.Phe693=)
c.*1791T= (n.*1791T=)
c.1894T= (p.Phe632=)
c.*377T= (n.*377T=)
c.*1901T= (n.*1901T=)
c.1651T= (p.Phe551=)
c.1402-10582T= (n.1402-10582T=)
c.1987T= (p.Phe663=)
c.2167T= (p.Phe723=)
c.1834T= (p.Phe612=)
7g.117592245_117592246delCA4451137CFTRc.2078_2079del (p.Phe693TrpfsTer?)
c.*1792_*1793del (n.*1792_*1793del)
c.1895_1896del (p.Phe632TrpfsTer?)
c.*378_*379del (n.*378_*379del)
c.*1902_*1903del (n.*1902_*1903del)
c.1652_1653del (p.Phe551TrpfsTer?)
c.1402-10581_1402-10580del (n.1402-10581_1402-10580del)
c.1988_1989del (p.Phe663TrpfsTer?)
c.2168_2169del (p.Phe723TrpfsTer?)
c.1835_1836del (p.Phe612TrpfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592245T>ACA368979580CFTRc.2078T>A (p.Phe693Tyr)
c.*1792T>A (n.*1792T>A)
c.1895T>A (p.Phe632Tyr)
c.*378T>A (n.*378T>A)
c.*1902T>A (n.*1902T>A)
c.1652T>A (p.Phe551Tyr)
c.1402-10581T>A (n.1402-10581T>A)
c.1988T>A (p.Phe663Tyr)
c.2168T>A (p.Phe723Tyr)
c.1835T>A (p.Phe612Tyr)
 gnomAD v4
7g.117592245T>CCA368979579CFTRc.2078T>C (p.Phe693Ser)
c.*1792T>C (n.*1792T>C)
c.1895T>C (p.Phe632Ser)
c.*378T>C (n.*378T>C)
c.*1902T>C (n.*1902T>C)
c.1652T>C (p.Phe551Ser)
c.1402-10581T>C (n.1402-10581T>C)
c.1988T>C (p.Phe663Ser)
c.2168T>C (p.Phe723Ser)
c.1835T>C (p.Phe612Ser)
 dbSNP gnomAD v3 gnomAD v4
7g.117592245T>GCA368979576CFTRc.2078T>G (p.Phe693Cys)
c.*1792T>G (n.*1792T>G)
c.1895T>G (p.Phe632Cys)
c.*378T>G (n.*378T>G)
c.*1902T>G (n.*1902T>G)
c.1652T>G (p.Phe551Cys)
c.1402-10581T>G (n.1402-10581T>G)
c.1988T>G (p.Phe663Cys)
c.2168T>G (p.Phe723Cys)
c.1835T>G (p.Phe612Cys)
7g.117592245T=CA1737394701CFTRc.2078T= (p.Phe693=)
c.*1792T= (n.*1792T=)
c.1895T= (p.Phe632=)
c.*378T= (n.*378T=)
c.*1902T= (n.*1902T=)
c.1652T= (p.Phe551=)
c.1402-10581T= (n.1402-10581T=)
c.1988T= (p.Phe663=)
c.2168T= (p.Phe723=)
c.1835T= (p.Phe612=)
7g.117592246T>ACA368979583CFTRc.2079T>A (p.Phe693Leu)
c.*1793T>A (n.*1793T>A)
c.1896T>A (p.Phe632Leu)
c.*379T>A (n.*379T>A)
c.*1903T>A (n.*1903T>A)
c.1653T>A (p.Phe551Leu)
c.1402-10580T>A (n.1402-10580T>A)
c.1989T>A (p.Phe663Leu)
c.2169T>A (p.Phe723Leu)
c.1836T>A (p.Phe612Leu)
7g.117592246T>CCA457449036CFTRc.2079T>C (p.Phe693=)
c.*1793T>C (n.*1793T>C)
c.1896T>C (p.Phe632=)
c.*379T>C (n.*379T>C)
c.*1903T>C (n.*1903T>C)
c.1653T>C (p.Phe551=)
c.1402-10580T>C (n.1402-10580T>C)
c.1989T>C (p.Phe663=)
c.2169T>C (p.Phe723=)
c.1836T>C (p.Phe612=)
7g.117592246T>GCA240239CFTRc.2079T>G (p.Phe693Leu)
c.*1793T>G (n.*1793T>G)
c.1896T>G (p.Phe632Leu)
c.*379T>G (n.*379T>G)
c.*1903T>G (n.*1903T>G)
c.1653T>G (p.Phe551Leu)
c.1402-10580T>G (n.1402-10580T>G)
c.1989T>G (p.Phe663Leu)
c.2169T>G (p.Phe723Leu)
c.1836T>G (p.Phe612Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592246T=CA1737394707CFTRc.2079T= (p.Phe693=)
c.*1793T= (n.*1793T=)
c.1896T= (p.Phe632=)
c.*379T= (n.*379T=)
c.*1903T= (n.*1903T=)
c.1653T= (p.Phe551=)
c.1402-10580T= (n.1402-10580T=)
c.1989T= (p.Phe663=)
c.2169T= (p.Phe723=)
c.1836T= (p.Phe612=)
7g.117592247G>ACA368979589CFTRc.2080G>A (p.Gly694Arg)
c.*1794G>A (n.*1794G>A)
c.1897G>A (p.Gly633Arg)
c.*380G>A (n.*380G>A)
c.*1904G>A (n.*1904G>A)
c.1654G>A (p.Gly552Arg)
c.1402-10579G>A (n.1402-10579G>A)
c.1990G>A (p.Gly664Arg)
c.2170G>A (p.Gly724Arg)
c.1837G>A (p.Gly613Arg)
 COSMIC
7g.117592247G>CCA368979591CFTRc.2080G>C (p.Gly694Arg)
c.*1794G>C (n.*1794G>C)
c.1897G>C (p.Gly633Arg)
c.*380G>C (n.*380G>C)
c.*1904G>C (n.*1904G>C)
c.1654G>C (p.Gly552Arg)
c.1402-10579G>C (n.1402-10579G>C)
c.1990G>C (p.Gly664Arg)
c.2170G>C (p.Gly724Arg)
c.1837G>C (p.Gly613Arg)
7g.117592247G>TCA368979593CFTRc.2080G>T (p.Gly694Trp)
c.*1794G>T (n.*1794G>T)
c.1897G>T (p.Gly633Trp)
c.*380G>T (n.*380G>T)
c.*1904G>T (n.*1904G>T)
c.1654G>T (p.Gly552Trp)
c.1402-10579G>T (n.1402-10579G>T)
c.1990G>T (p.Gly664Trp)
c.2170G>T (p.Gly724Trp)
c.1837G>T (p.Gly613Trp)
7g.117592250dupCA326745CFTRc.2083dup (p.Glu695GlyfsTer?)
c.*1797dup (n.*1797dup)
c.1900dup (p.Glu634GlyfsTer?)
c.*383dup (n.*383dup)
c.*1907dup (n.*1907dup)
c.1657dup (p.Glu553GlyfsTer?)
c.1402-10576dup (n.1402-10576dup)
c.1993dup (p.Glu665GlyfsTer?)
c.2173dup (p.Glu725GlyfsTer?)
c.1840dup (p.Glu614GlyfsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592250delCA2579000098CFTRc.2083del (p.Glu695LysfsTer27)
c.*1797del (n.*1797del)
c.1900del (p.Glu634LysfsTer27)
c.*383del (n.*383del)
c.*1907del (n.*1907del)
c.1657del (p.Glu553LysfsTer27)
c.1402-10576del (n.1402-10576del)
c.1993del (p.Glu665LysfsTer27)
c.2173del (p.Glu725LysfsTer27)
c.1840del (p.Glu614LysfsTer27)
 gnomAD v4
7g.117592248G>ACA368979596CFTRc.2081G>A (p.Gly694Glu)
c.*1795G>A (n.*1795G>A)
c.1898G>A (p.Gly633Glu)
c.*381G>A (n.*381G>A)
c.*1905G>A (n.*1905G>A)
c.1655G>A (p.Gly552Glu)
c.1402-10578G>A (n.1402-10578G>A)
c.1991G>A (p.Gly664Glu)
c.2171G>A (p.Gly724Glu)
c.1838G>A (p.Gly613Glu)
 COSMIC
7g.117592248G>CCA368979600CFTRc.2081G>C (p.Gly694Ala)
c.*1795G>C (n.*1795G>C)
c.1898G>C (p.Gly633Ala)
c.*381G>C (n.*381G>C)
c.*1905G>C (n.*1905G>C)
c.1655G>C (p.Gly552Ala)
c.1402-10578G>C (n.1402-10578G>C)
c.1991G>C (p.Gly664Ala)
c.2171G>C (p.Gly724Ala)
c.1838G>C (p.Gly613Ala)
7g.117592248G>TCA368979598CFTRc.2081G>T (p.Gly694Val)
c.*1795G>T (n.*1795G>T)
c.1898G>T (p.Gly633Val)
c.*381G>T (n.*381G>T)
c.*1905G>T (n.*1905G>T)
c.1655G>T (p.Gly552Val)
c.1402-10578G>T (n.1402-10578G>T)
c.1991G>T (p.Gly664Val)
c.2171G>T (p.Gly724Val)
c.1838G>T (p.Gly613Val)
7g.117592249G>ACA457449037CFTRc.2082G>A (p.Gly694=)
c.*1796G>A (n.*1796G>A)
c.1899G>A (p.Gly633=)
c.*382G>A (n.*382G>A)
c.*1906G>A (n.*1906G>A)
c.1656G>A (p.Gly552=)
c.1402-10577G>A (n.1402-10577G>A)
c.1992G>A (p.Gly664=)
c.2172G>A (p.Gly724=)
c.1839G>A (p.Gly613=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117592249G>CCA457449038CFTRc.2082G>C (p.Gly694=)
c.*1796G>C (n.*1796G>C)
c.1899G>C (p.Gly633=)
c.*382G>C (n.*382G>C)
c.*1906G>C (n.*1906G>C)
c.1656G>C (p.Gly552=)
c.1402-10577G>C (n.1402-10577G>C)
c.1992G>C (p.Gly664=)
c.2172G>C (p.Gly724=)
c.1839G>C (p.Gly613=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117592249G=CA1737394721CFTRc.2082G= (p.Gly694=)
c.*1796G= (n.*1796G=)
c.1899G= (p.Gly633=)
c.*382G= (n.*382G=)
c.*1906G= (n.*1906G=)
c.1656G= (p.Gly552=)
c.1402-10577G= (n.1402-10577G=)
c.1992G= (p.Gly664=)
c.2172G= (p.Gly724=)
c.1839G= (p.Gly613=)
7g.117592249G>TCA457449039CFTRc.2082G>T (p.Gly694=)
c.*1796G>T (n.*1796G>T)
c.1899G>T (p.Gly633=)
c.*382G>T (n.*382G>T)
c.*1906G>T (n.*1906G>T)
c.1656G>T (p.Gly552=)
c.1402-10577G>T (n.1402-10577G>T)
c.1992G>T (p.Gly664=)
c.2172G>T (p.Gly724=)
c.1839G>T (p.Gly613=)
7g.117592250G>ACA368979603CFTRc.2083G>A (p.Glu695Lys)
c.*1797G>A (n.*1797G>A)
c.1900G>A (p.Glu634Lys)
c.*383G>A (n.*383G>A)
c.*1907G>A (n.*1907G>A)
c.1657G>A (p.Glu553Lys)
c.1402-10576G>A (n.1402-10576G>A)
c.1993G>A (p.Glu665Lys)
c.2173G>A (p.Glu725Lys)
c.1840G>A (p.Glu614Lys)
 ClinVar
7g.117592250G>CCA368979605CFTRc.2083G>C (p.Glu695Gln)
c.*1797G>C (n.*1797G>C)
c.1900G>C (p.Glu634Gln)
c.*383G>C (n.*383G>C)
c.*1907G>C (n.*1907G>C)
c.1657G>C (p.Glu553Gln)
c.1402-10576G>C (n.1402-10576G>C)
c.1993G>C (p.Glu665Gln)
c.2173G>C (p.Glu725Gln)
c.1840G>C (p.Glu614Gln)
7g.117592250G>TCA368979607CFTRc.2083G>T (p.Glu695Ter)
c.*1797G>T (n.*1797G>T)
c.1900G>T (p.Glu634Ter)
c.*383G>T (n.*383G>T)
c.*1907G>T (n.*1907G>T)
c.1657G>T (p.Glu553Ter)
c.1402-10576G>T (n.1402-10576G>T)
c.1993G>T (p.Glu665Ter)
c.2173G>T (p.Glu725Ter)
c.1840G>T (p.Glu614Ter)
7g.117592250_117592251delinsGACA1737394725CFTRc.2083_2084delinsGA (p.Glu695=)
c.*1797_*1798delinsGA (n.*1797_*1798delinsGA)
c.1900_1901delinsGA (p.Glu634=)
c.*383_*384delinsGA (n.*383_*384delinsGA)
c.*1907_*1908delinsGA (n.*1907_*1908delinsGA)
c.1657_1658delinsGA (p.Glu553=)
c.1402-10576_1402-10575delinsGA (n.1402-10576_1402-10575delinsGA)
c.1993_1994delinsGA (p.Glu665=)
c.2173_2174delinsGA (p.Glu725=)
c.1840_1841delinsGA (p.Glu614=)
7g.117592251A=CA1737394734CFTRc.2084A= (p.Glu695=)
c.*1798A= (n.*1798A=)
c.1901A= (p.Glu634=)
c.*384A= (n.*384A=)
c.*1908A= (n.*1908A=)
c.1658A= (p.Glu553=)
c.1402-10575A= (n.1402-10575A=)
c.1994A= (p.Glu665=)
c.2174A= (p.Glu725=)
c.1841A= (p.Glu614=)
7g.117592251A>CCA368979611CFTRc.2084A>C (p.Glu695Ala)
c.*1798A>C (n.*1798A>C)
c.1901A>C (p.Glu634Ala)
c.*384A>C (n.*384A>C)
c.*1908A>C (n.*1908A>C)
c.1658A>C (p.Glu553Ala)
c.1402-10575A>C (n.1402-10575A>C)
c.1994A>C (p.Glu665Ala)
c.2174A>C (p.Glu725Ala)
c.1841A>C (p.Glu614Ala)
7g.117592251A>GCA4451138CFTRc.2084A>G (p.Glu695Gly)
c.*1798A>G (n.*1798A>G)
c.1901A>G (p.Glu634Gly)
c.*384A>G (n.*384A>G)
c.*1908A>G (n.*1908A>G)
c.1658A>G (p.Glu553Gly)
c.1402-10575A>G (n.1402-10575A>G)
c.1994A>G (p.Glu665Gly)
c.2174A>G (p.Glu725Gly)
c.1841A>G (p.Glu614Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
7g.117592251A>TCA368979613CFTRc.2084A>T (p.Glu695Val)
c.*1798A>T (n.*1798A>T)
c.1901A>T (p.Glu634Val)
c.*384A>T (n.*384A>T)
c.*1908A>T (n.*1908A>T)
c.1658A>T (p.Glu553Val)
c.1402-10575A>T (n.1402-10575A>T)
c.1994A>T (p.Glu665Val)
c.2174A>T (p.Glu725Val)
c.1841A>T (p.Glu614Val)
7g.117592256dupCA326748CFTRc.2089dup (p.Arg697LysfsTer?)
c.*1803dup (n.*1803dup)
c.1906dup (p.Arg636LysfsTer?)
c.*389dup (n.*389dup)
c.*1913dup (n.*1913dup)
c.1663dup (p.Arg555LysfsTer?)
c.1402-10570dup (n.1402-10570dup)
c.1999dup (p.Arg667LysfsTer?)
c.2179dup (p.Arg727LysfsTer?)
c.1846dup (p.Arg616LysfsTer?)
 ClinVar dbSNP
7g.117592256delCA645541503CFTRc.2089del (p.Arg697GlyfsTer25)
c.*1803del (n.*1803del)
c.1906del (p.Arg636GlyfsTer25)
c.*389del (n.*389del)
c.*1913del (n.*1913del)
c.1663del (p.Arg555GlyfsTer25)
c.1402-10570del (n.1402-10570del)
c.1999del (p.Arg667GlyfsTer25)
c.2179del (p.Arg727GlyfsTer25)
c.1846del (p.Arg616GlyfsTer25)
 ClinVar dbSNP COSMIC
7g.117592252A>CCA368979616CFTRc.2085A>C (p.Glu695Asp)
c.*1799A>C (n.*1799A>C)
c.1902A>C (p.Glu634Asp)
c.*385A>C (n.*385A>C)
c.*1909A>C (n.*1909A>C)
c.1659A>C (p.Glu553Asp)
c.1402-10574A>C (n.1402-10574A>C)
c.1995A>C (p.Glu665Asp)
c.2175A>C (p.Glu725Asp)
c.1842A>C (p.Glu614Asp)
7g.117592252A>GCA457449040CFTRc.2085A>G (p.Glu695=)
c.*1799A>G (n.*1799A>G)
c.1902A>G (p.Glu634=)
c.*385A>G (n.*385A>G)
c.*1909A>G (n.*1909A>G)
c.1659A>G (p.Glu553=)
c.1402-10574A>G (n.1402-10574A>G)
c.1995A>G (p.Glu665=)
c.2175A>G (p.Glu725=)
c.1842A>G (p.Glu614=)
7g.117592252A>TCA368979618CFTRc.2085A>T (p.Glu695Asp)
c.*1799A>T (n.*1799A>T)
c.1902A>T (p.Glu634Asp)
c.*385A>T (n.*385A>T)
c.*1909A>T (n.*1909A>T)
c.1659A>T (p.Glu553Asp)
c.1402-10574A>T (n.1402-10574A>T)
c.1995A>T (p.Glu665Asp)
c.2175A>T (p.Glu725Asp)
c.1842A>T (p.Glu614Asp)
7g.117592253A>CCA368979620CFTRc.2086A>C (p.Lys696Gln)
c.*1800A>C (n.*1800A>C)
c.1903A>C (p.Lys635Gln)
c.*386A>C (n.*386A>C)
c.*1910A>C (n.*1910A>C)
c.1660A>C (p.Lys554Gln)
c.1402-10573A>C (n.1402-10573A>C)
c.1996A>C (p.Lys666Gln)
c.2176A>C (p.Lys726Gln)
c.1843A>C (p.Lys615Gln)
7g.117592253A>GCA368979623CFTRc.2086A>G (p.Lys696Glu)
c.*1800A>G (n.*1800A>G)
c.1903A>G (p.Lys635Glu)
c.*386A>G (n.*386A>G)
c.*1910A>G (n.*1910A>G)
c.1660A>G (p.Lys554Glu)
c.1402-10573A>G (n.1402-10573A>G)
c.1996A>G (p.Lys666Glu)
c.2176A>G (p.Lys726Glu)
c.1843A>G (p.Lys615Glu)
7g.117592253A>TCA368979624CFTRc.2086A>T (p.Lys696Ter)
c.*1800A>T (n.*1800A>T)
c.1903A>T (p.Lys635Ter)
c.*386A>T (n.*386A>T)
c.*1910A>T (n.*1910A>T)
c.1660A>T (p.Lys554Ter)
c.1402-10573A>T (n.1402-10573A>T)
c.1996A>T (p.Lys666Ter)
c.2176A>T (p.Lys726Ter)
c.1843A>T (p.Lys615Ter)
7g.117592254A=CA1737394747CFTRc.2087A= (p.Lys696=)
c.*1801A= (n.*1801A=)
c.1904A= (p.Lys635=)
c.*387A= (n.*387A=)
c.*1911A= (n.*1911A=)
c.1661A= (p.Lys554=)
c.1402-10572A= (n.1402-10572A=)
c.1997A= (p.Lys666=)
c.2177A= (p.Lys726=)
c.1844A= (p.Lys615=)
7g.117592254A>CCA368979628CFTRc.2087A>C (p.Lys696Thr)
c.*1801A>C (n.*1801A>C)
c.1904A>C (p.Lys635Thr)
c.*387A>C (n.*387A>C)
c.*1911A>C (n.*1911A>C)
c.1661A>C (p.Lys554Thr)
c.1402-10572A>C (n.1402-10572A>C)
c.1997A>C (p.Lys666Thr)
c.2177A>C (p.Lys726Thr)
c.1844A>C (p.Lys615Thr)
7g.117592254A>GCA326746CFTRc.2087A>G (p.Lys696Arg)
c.*1801A>G (n.*1801A>G)
c.1904A>G (p.Lys635Arg)
c.*387A>G (n.*387A>G)
c.*1911A>G (n.*1911A>G)
c.1661A>G (p.Lys554Arg)
c.1402-10572A>G (n.1402-10572A>G)
c.1997A>G (p.Lys666Arg)
c.2177A>G (p.Lys726Arg)
c.1844A>G (p.Lys615Arg)
 ClinVar dbSNP gnomAD v4
7g.117592254A>TCA368979630CFTRc.2087A>T (p.Lys696Ile)
c.*1801A>T (n.*1801A>T)
c.1904A>T (p.Lys635Ile)
c.*387A>T (n.*387A>T)
c.*1911A>T (n.*1911A>T)
c.1661A>T (p.Lys554Ile)
c.1402-10572A>T (n.1402-10572A>T)
c.1997A>T (p.Lys666Ile)
c.2177A>T (p.Lys726Ile)
c.1844A>T (p.Lys615Ile)
 COSMIC
7g.117592255A>CCA368979634CFTRc.2088A>C (p.Lys696Asn)
c.*1802A>C (n.*1802A>C)
c.1905A>C (p.Lys635Asn)
c.*388A>C (n.*388A>C)
c.*1912A>C (n.*1912A>C)
c.1662A>C (p.Lys554Asn)
c.1402-10571A>C (n.1402-10571A>C)
c.1998A>C (p.Lys666Asn)
c.2178A>C (p.Lys726Asn)
c.1845A>C (p.Lys615Asn)
7g.117592255A>GCA457449041CFTRc.2088A>G (p.Lys696=)
c.*1802A>G (n.*1802A>G)
c.1905A>G (p.Lys635=)
c.*388A>G (n.*388A>G)
c.*1912A>G (n.*1912A>G)
c.1662A>G (p.Lys554=)
c.1402-10571A>G (n.1402-10571A>G)
c.1998A>G (p.Lys666=)
c.2178A>G (p.Lys726=)
c.1845A>G (p.Lys615=)
7g.117592255A>TCA368979636CFTRc.2088A>T (p.Lys696Asn)
c.*1802A>T (n.*1802A>T)
c.1905A>T (p.Lys635Asn)
c.*388A>T (n.*388A>T)
c.*1912A>T (n.*1912A>T)
c.1662A>T (p.Lys554Asn)
c.1402-10571A>T (n.1402-10571A>T)
c.1998A>T (p.Lys666Asn)
c.2178A>T (p.Lys726Asn)
c.1845A>T (p.Lys615Asn)
7g.117592256A>CCA457449042CFTRc.2089A>C (p.Arg697=)
c.*1803A>C (n.*1803A>C)
c.1906A>C (p.Arg636=)
c.*389A>C (n.*389A>C)
c.*1913A>C (n.*1913A>C)
c.1663A>C (p.Arg555=)
c.1402-10570A>C (n.1402-10570A>C)
c.1999A>C (p.Arg667=)
c.2179A>C (p.Arg727=)
c.1846A>C (p.Arg616=)
 gnomAD v4
7g.117592256A>GCA368979639CFTRc.2089A>G (p.Arg697Gly)
c.*1803A>G (n.*1803A>G)
c.1906A>G (p.Arg636Gly)
c.*389A>G (n.*389A>G)
c.*1913A>G (n.*1913A>G)
c.1663A>G (p.Arg555Gly)
c.1402-10570A>G (n.1402-10570A>G)
c.1999A>G (p.Arg667Gly)
c.2179A>G (p.Arg727Gly)
c.1846A>G (p.Arg616Gly)
7g.117592256A>TCA368979640CFTRc.2089A>T (p.Arg697Trp)
c.*1803A>T (n.*1803A>T)
c.1906A>T (p.Arg636Trp)
c.*389A>T (n.*389A>T)
c.*1913A>T (n.*1913A>T)
c.1663A>T (p.Arg555Trp)
c.1402-10570A>T (n.1402-10570A>T)
c.1999A>T (p.Arg667Trp)
c.2179A>T (p.Arg727Trp)
c.1846A>T (p.Arg616Trp)
7g.117592257G>ACA368979643CFTRc.2090G>A (p.Arg697Lys)
c.*1804G>A (n.*1804G>A)
c.1907G>A (p.Arg636Lys)
c.*390G>A (n.*390G>A)
c.*1914G>A (n.*1914G>A)
c.1664G>A (p.Arg555Lys)
c.1402-10569G>A (n.1402-10569G>A)
c.2000G>A (p.Arg667Lys)
c.2180G>A (p.Arg727Lys)
c.1847G>A (p.Arg616Lys)
 gnomAD v4
7g.117592257G>CCA368979645CFTRc.2090G>C (p.Arg697Thr)
c.*1804G>C (n.*1804G>C)
c.1907G>C (p.Arg636Thr)
c.*390G>C (n.*390G>C)
c.*1914G>C (n.*1914G>C)
c.1664G>C (p.Arg555Thr)
c.1402-10569G>C (n.1402-10569G>C)
c.2000G>C (p.Arg667Thr)
c.2180G>C (p.Arg727Thr)
c.1847G>C (p.Arg616Thr)
7g.117592257G>TCA368979648CFTRc.2090G>T (p.Arg697Met)
c.*1804G>T (n.*1804G>T)
c.1907G>T (p.Arg636Met)
c.*390G>T (n.*390G>T)
c.*1914G>T (n.*1914G>T)
c.1664G>T (p.Arg555Met)
c.1402-10569G>T (n.1402-10569G>T)
c.2000G>T (p.Arg667Met)
c.2180G>T (p.Arg727Met)
c.1847G>T (p.Arg616Met)
7g.117592258G>ACA457449043CFTRc.2091G>A (p.Arg697=)
c.*1805G>A (n.*1805G>A)
c.1908G>A (p.Arg636=)
c.*391G>A (n.*391G>A)
c.*1915G>A (n.*1915G>A)
c.1665G>A (p.Arg555=)
c.1402-10568G>A (n.1402-10568G>A)
c.2001G>A (p.Arg667=)
c.2181G>A (p.Arg727=)
c.1848G>A (p.Arg616=)
7g.117592258G>CCA368979650CFTRc.2091G>C (p.Arg697Ser)
c.*1805G>C (n.*1805G>C)
c.1908G>C (p.Arg636Ser)
c.*391G>C (n.*391G>C)
c.*1915G>C (n.*1915G>C)
c.1665G>C (p.Arg555Ser)
c.1402-10568G>C (n.1402-10568G>C)
c.2001G>C (p.Arg667Ser)
c.2181G>C (p.Arg727Ser)
c.1848G>C (p.Arg616Ser)
7g.117592258G>TCA368979652CFTRc.2091G>T (p.Arg697Ser)
c.*1805G>T (n.*1805G>T)
c.1908G>T (p.Arg636Ser)
c.*391G>T (n.*391G>T)
c.*1915G>T (n.*1915G>T)
c.1665G>T (p.Arg555Ser)
c.1402-10568G>T (n.1402-10568G>T)
c.2001G>T (p.Arg667Ser)
c.2181G>T (p.Arg727Ser)
c.1848G>T (p.Arg616Ser)
7g.117592259A>CCA368979656CFTRc.2092A>C (p.Lys698Gln)
c.*1806A>C (n.*1806A>C)
c.1909A>C (p.Lys637Gln)
c.*392A>C (n.*392A>C)
c.*1916A>C (n.*1916A>C)
c.1666A>C (p.Lys556Gln)
c.1402-10567A>C (n.1402-10567A>C)
c.2002A>C (p.Lys668Gln)
c.2182A>C (p.Lys728Gln)
c.1849A>C (p.Lys617Gln)
7g.117592259A>GCA368979657CFTRc.2092A>G (p.Lys698Glu)
c.*1806A>G (n.*1806A>G)
c.1909A>G (p.Lys637Glu)
c.*392A>G (n.*392A>G)
c.*1916A>G (n.*1916A>G)
c.1666A>G (p.Lys556Glu)
c.1402-10567A>G (n.1402-10567A>G)
c.2002A>G (p.Lys668Glu)
c.2182A>G (p.Lys728Glu)
c.1849A>G (p.Lys617Glu)
 COSMIC
7g.117592259A>TCA368979658CFTRc.2092A>T (p.Lys698Ter)
c.*1806A>T (n.*1806A>T)
c.1909A>T (p.Lys637Ter)
c.*392A>T (n.*392A>T)
c.*1916A>T (n.*1916A>T)
c.1666A>T (p.Lys556Ter)
c.1402-10567A>T (n.1402-10567A>T)
c.2002A>T (p.Lys668Ter)
c.2182A>T (p.Lys728Ter)
c.1849A>T (p.Lys617Ter)
7g.117592260A>CCA368979661CFTRc.2093A>C (p.Lys698Thr)
c.*1807A>C (n.*1807A>C)
c.1910A>C (p.Lys637Thr)
c.*393A>C (n.*393A>C)
c.*1917A>C (n.*1917A>C)
c.1667A>C (p.Lys556Thr)
c.1402-10566A>C (n.1402-10566A>C)
c.2003A>C (p.Lys668Thr)
c.2183A>C (p.Lys728Thr)
c.1850A>C (p.Lys617Thr)
7g.117592260A>GCA368979663CFTRc.2093A>G (p.Lys698Arg)
c.*1807A>G (n.*1807A>G)
c.1910A>G (p.Lys637Arg)
c.*393A>G (n.*393A>G)
c.*1917A>G (n.*1917A>G)
c.1667A>G (p.Lys556Arg)
c.1402-10566A>G (n.1402-10566A>G)
c.2003A>G (p.Lys668Arg)
c.2183A>G (p.Lys728Arg)
c.1850A>G (p.Lys617Arg)
7g.117592260A>TCA368979666CFTRc.2093A>T (p.Lys698Met)
c.*1807A>T (n.*1807A>T)
c.1910A>T (p.Lys637Met)
c.*393A>T (n.*393A>T)
c.*1917A>T (n.*1917A>T)
c.1667A>T (p.Lys556Met)
c.1402-10566A>T (n.1402-10566A>T)
c.2003A>T (p.Lys668Met)
c.2183A>T (p.Lys728Met)
c.1850A>T (p.Lys617Met)
7g.117592261G>ACA457449044CFTRc.2094G>A (p.Lys698=)
c.*1808G>A (n.*1808G>A)
c.1911G>A (p.Lys637=)
c.*394G>A (n.*394G>A)
c.*1918G>A (n.*1918G>A)
c.1668G>A (p.Lys556=)
c.1402-10565G>A (n.1402-10565G>A)
c.2004G>A (p.Lys668=)
c.2184G>A (p.Lys728=)
c.1851G>A (p.Lys617=)
 ClinVar
7g.117592261G>CCA368979668CFTRc.2094G>C (p.Lys698Asn)
c.*1808G>C (n.*1808G>C)
c.1911G>C (p.Lys637Asn)
c.*394G>C (n.*394G>C)
c.*1918G>C (n.*1918G>C)
c.1668G>C (p.Lys556Asn)
c.1402-10565G>C (n.1402-10565G>C)
c.2004G>C (p.Lys668Asn)
c.2184G>C (p.Lys728Asn)
c.1851G>C (p.Lys617Asn)
7g.117592261G>TCA368979669CFTRc.2094G>T (p.Lys698Asn)
c.*1808G>T (n.*1808G>T)
c.1911G>T (p.Lys637Asn)
c.*394G>T (n.*394G>T)
c.*1918G>T (n.*1918G>T)
c.1668G>T (p.Lys556Asn)
c.1402-10565G>T (n.1402-10565G>T)
c.2004G>T (p.Lys668Asn)
c.2184G>T (p.Lys728Asn)
c.1851G>T (p.Lys617Asn)
 COSMIC
7g.117592262A>CCA368979673CFTRc.2095A>C (p.Asn699His)
c.*1809A>C (n.*1809A>C)
c.1912A>C (p.Asn638His)
c.*395A>C (n.*395A>C)
c.*1919A>C (n.*1919A>C)
c.1669A>C (p.Asn557His)
c.1402-10564A>C (n.1402-10564A>C)
c.2005A>C (p.Asn669His)
c.2185A>C (p.Asn729His)
c.1852A>C (p.Asn618His)
7g.117592262A>GCA368979674CFTRc.2095A>G (p.Asn699Asp)
c.*1809A>G (n.*1809A>G)
c.1912A>G (p.Asn638Asp)
c.*395A>G (n.*395A>G)
c.*1919A>G (n.*1919A>G)
c.1669A>G (p.Asn557Asp)
c.1402-10564A>G (n.1402-10564A>G)
c.2005A>G (p.Asn669Asp)
c.2185A>G (p.Asn729Asp)
c.1852A>G (p.Asn618Asp)
7g.117592262A>TCA368979677CFTRc.2095A>T (p.Asn699Tyr)
c.*1809A>T (n.*1809A>T)
c.1912A>T (p.Asn638Tyr)
c.*395A>T (n.*395A>T)
c.*1919A>T (n.*1919A>T)
c.1669A>T (p.Asn557Tyr)
c.1402-10564A>T (n.1402-10564A>T)
c.2005A>T (p.Asn669Tyr)
c.2185A>T (p.Asn729Tyr)
c.1852A>T (p.Asn618Tyr)
7g.117592263A>CCA368979679CFTRc.2096A>C (p.Asn699Thr)
c.*1810A>C (n.*1810A>C)
c.1913A>C (p.Asn638Thr)
c.*396A>C (n.*396A>C)
c.*1920A>C (n.*1920A>C)
c.1670A>C (p.Asn557Thr)
c.1402-10563A>C (n.1402-10563A>C)
c.2006A>C (p.Asn669Thr)
c.2186A>C (p.Asn729Thr)
c.1853A>C (p.Asn618Thr)
7g.117592263A>GCA368979682CFTRc.2096A>G (p.Asn699Ser)
c.*1810A>G (n.*1810A>G)
c.1913A>G (p.Asn638Ser)
c.*396A>G (n.*396A>G)
c.*1920A>G (n.*1920A>G)
c.1670A>G (p.Asn557Ser)
c.1402-10563A>G (n.1402-10563A>G)
c.2006A>G (p.Asn669Ser)
c.2186A>G (p.Asn729Ser)
c.1853A>G (p.Asn618Ser)
7g.117592263A>TCA368979684CFTRc.2096A>T (p.Asn699Ile)
c.*1810A>T (n.*1810A>T)
c.1913A>T (p.Asn638Ile)
c.*396A>T (n.*396A>T)
c.*1920A>T (n.*1920A>T)
c.1670A>T (p.Asn557Ile)
c.1402-10563A>T (n.1402-10563A>T)
c.2006A>T (p.Asn669Ile)
c.2186A>T (p.Asn729Ile)
c.1853A>T (p.Asn618Ile)
 ClinVar
7g.117592264T>ACA4451139CFTRc.2097T>A (p.Asn699Lys)
c.*1811T>A (n.*1811T>A)
c.1914T>A (p.Asn638Lys)
c.*397T>A (n.*397T>A)
c.*1921T>A (n.*1921T>A)
c.1671T>A (p.Asn557Lys)
c.1402-10562T>A (n.1402-10562T>A)
c.2007T>A (p.Asn669Lys)
c.2187T>A (p.Asn729Lys)
c.1854T>A (p.Asn618Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592264T>CCA457449045CFTRc.2097T>C (p.Asn699=)
c.*1811T>C (n.*1811T>C)
c.1914T>C (p.Asn638=)
c.*397T>C (n.*397T>C)
c.*1921T>C (n.*1921T>C)
c.1671T>C (p.Asn557=)
c.1402-10562T>C (n.1402-10562T>C)
c.2007T>C (p.Asn669=)
c.2187T>C (p.Asn729=)
c.1854T>C (p.Asn618=)
7g.117592264T>GCA368979688CFTRc.2097T>G (p.Asn699Lys)
c.*1811T>G (n.*1811T>G)
c.1914T>G (p.Asn638Lys)
c.*397T>G (n.*397T>G)
c.*1921T>G (n.*1921T>G)
c.1671T>G (p.Asn557Lys)
c.1402-10562T>G (n.1402-10562T>G)
c.2007T>G (p.Asn669Lys)
c.2187T>G (p.Asn729Lys)
c.1854T>G (p.Asn618Lys)
7g.117592264T=CA1737394751CFTRc.2097T= (p.Asn699=)
c.*1811T= (n.*1811T=)
c.1914T= (p.Asn638=)
c.*397T= (n.*397T=)
c.*1921T= (n.*1921T=)
c.1671T= (p.Asn557=)
c.1402-10562T= (n.1402-10562T=)
c.2007T= (p.Asn669=)
c.2187T= (p.Asn729=)
c.1854T= (p.Asn618=)
7g.117592265T>ACA368979691CFTRc.2098T>A (p.Ser700Thr)
c.*1812T>A (n.*1812T>A)
c.1915T>A (p.Ser639Thr)
c.*398T>A (n.*398T>A)
c.*1922T>A (n.*1922T>A)
c.1672T>A (p.Ser558Thr)
c.1402-10561T>A (n.1402-10561T>A)
c.2008T>A (p.Ser670Thr)
c.2188T>A (p.Ser730Thr)
c.1855T>A (p.Ser619Thr)
7g.117592265T>CCA368979692CFTRc.2098T>C (p.Ser700Pro)
c.*1812T>C (n.*1812T>C)
c.1915T>C (p.Ser639Pro)
c.*398T>C (n.*398T>C)
c.*1922T>C (n.*1922T>C)
c.1672T>C (p.Ser558Pro)
c.1402-10561T>C (n.1402-10561T>C)
c.2008T>C (p.Ser670Pro)
c.2188T>C (p.Ser730Pro)
c.1855T>C (p.Ser619Pro)
 ClinVar
7g.117592265T>GCA368979695CFTRc.2098T>G (p.Ser700Ala)
c.*1812T>G (n.*1812T>G)
c.1915T>G (p.Ser639Ala)
c.*398T>G (n.*398T>G)
c.*1922T>G (n.*1922T>G)
c.1672T>G (p.Ser558Ala)
c.1402-10561T>G (n.1402-10561T>G)
c.2008T>G (p.Ser670Ala)
c.2188T>G (p.Ser730Ala)
c.1855T>G (p.Ser619Ala)
7g.117592266C>ACA368979700CFTRc.2099C>A (p.Ser700Tyr)
c.*1813C>A (n.*1813C>A)
c.1916C>A (p.Ser639Tyr)
c.*399C>A (n.*399C>A)
c.*1923C>A (n.*1923C>A)
c.1673C>A (p.Ser558Tyr)
c.1402-10560C>A (n.1402-10560C>A)
c.2009C>A (p.Ser670Tyr)
c.2189C>A (p.Ser730Tyr)
c.1856C>A (p.Ser619Tyr)
 ClinVar
7g.117592266C>GCA368979702CFTRc.2099C>G (p.Ser700Cys)
c.*1813C>G (n.*1813C>G)
c.1916C>G (p.Ser639Cys)
c.*399C>G (n.*399C>G)
c.*1923C>G (n.*1923C>G)
c.1673C>G (p.Ser558Cys)
c.1402-10560C>G (n.1402-10560C>G)
c.2009C>G (p.Ser670Cys)
c.2189C>G (p.Ser730Cys)
c.1856C>G (p.Ser619Cys)
7g.117592266C>TCA368979698CFTRc.2099C>T (p.Ser700Phe)
c.*1813C>T (n.*1813C>T)
c.1916C>T (p.Ser639Phe)
c.*399C>T (n.*399C>T)
c.*1923C>T (n.*1923C>T)
c.1673C>T (p.Ser558Phe)
c.1402-10560C>T (n.1402-10560C>T)
c.2009C>T (p.Ser670Phe)
c.2189C>T (p.Ser730Phe)
c.1856C>T (p.Ser619Phe)
7g.117592267T>ACA457449047CFTRc.2100T>A (p.Ser700=)
c.*1814T>A (n.*1814T>A)
c.1917T>A (p.Ser639=)
c.*400T>A (n.*400T>A)
c.*1924T>A (n.*1924T>A)
c.1674T>A (p.Ser558=)
c.1402-10559T>A (n.1402-10559T>A)
c.2010T>A (p.Ser670=)
c.2190T>A (p.Ser730=)
c.1857T>A (p.Ser619=)
 gnomAD v4
7g.117592267T>CCA457449048CFTRc.2100T>C (p.Ser700=)
c.*1814T>C (n.*1814T>C)
c.1917T>C (p.Ser639=)
c.*400T>C (n.*400T>C)
c.*1924T>C (n.*1924T>C)
c.1674T>C (p.Ser558=)
c.1402-10559T>C (n.1402-10559T>C)
c.2010T>C (p.Ser670=)
c.2190T>C (p.Ser730=)
c.1857T>C (p.Ser619=)
7g.117592267T>GCA457449046CFTRc.2100T>G (p.Ser700=)
c.*1814T>G (n.*1814T>G)
c.1917T>G (p.Ser639=)
c.*400T>G (n.*400T>G)
c.*1924T>G (n.*1924T>G)
c.1674T>G (p.Ser558=)
c.1402-10559T>G (n.1402-10559T>G)
c.2010T>G (p.Ser670=)
c.2190T>G (p.Ser730=)
c.1857T>G (p.Ser619=)
7g.117592268A>CCA368979705CFTRc.2101A>C (p.Ile701Leu)
c.*1815A>C (n.*1815A>C)
c.1918A>C (p.Ile640Leu)
c.*401A>C (n.*401A>C)
c.*1925A>C (n.*1925A>C)
c.1675A>C (p.Ile559Leu)
c.1402-10558A>C (n.1402-10558A>C)
c.2011A>C (p.Ile671Leu)
c.2191A>C (p.Ile731Leu)
c.1858A>C (p.Ile620Leu)
7g.117592268A>GCA368979707CFTRc.2101A>G (p.Ile701Val)
c.*1815A>G (n.*1815A>G)
c.1918A>G (p.Ile640Val)
c.*401A>G (n.*401A>G)
c.*1925A>G (n.*1925A>G)
c.1675A>G (p.Ile559Val)
c.1402-10558A>G (n.1402-10558A>G)
c.2011A>G (p.Ile671Val)
c.2191A>G (p.Ile731Val)
c.1858A>G (p.Ile620Val)
7g.117592268A>TCA368979709CFTRc.2101A>T (p.Ile701Phe)
c.*1815A>T (n.*1815A>T)
c.1918A>T (p.Ile640Phe)
c.*401A>T (n.*401A>T)
c.*1925A>T (n.*1925A>T)
c.1675A>T (p.Ile559Phe)
c.1402-10558A>T (n.1402-10558A>T)
c.2011A>T (p.Ile671Phe)
c.2191A>T (p.Ile731Phe)
c.1858A>T (p.Ile620Phe)
7g.117592269T>ACA368979713CFTRc.2102T>A (p.Ile701Asn)
c.*1816T>A (n.*1816T>A)
c.1919T>A (p.Ile640Asn)
c.*402T>A (n.*402T>A)
c.*1926T>A (n.*1926T>A)
c.1676T>A (p.Ile559Asn)
c.1402-10557T>A (n.1402-10557T>A)
c.2012T>A (p.Ile671Asn)
c.2192T>A (p.Ile731Asn)
c.1859T>A (p.Ile620Asn)
7g.117592269T>CCA368979715CFTRc.2102T>C (p.Ile701Thr)
c.*1816T>C (n.*1816T>C)
c.1919T>C (p.Ile640Thr)
c.*402T>C (n.*402T>C)
c.*1926T>C (n.*1926T>C)
c.1676T>C (p.Ile559Thr)
c.1402-10557T>C (n.1402-10557T>C)
c.2012T>C (p.Ile671Thr)
c.2192T>C (p.Ile731Thr)
c.1859T>C (p.Ile620Thr)
 gnomAD v4
7g.117592269T>GCA368979717CFTRc.2102T>G (p.Ile701Ser)
c.*1816T>G (n.*1816T>G)
c.1919T>G (p.Ile640Ser)
c.*402T>G (n.*402T>G)
c.*1926T>G (n.*1926T>G)
c.1676T>G (p.Ile559Ser)
c.1402-10557T>G (n.1402-10557T>G)
c.2012T>G (p.Ile671Ser)
c.2192T>G (p.Ile731Ser)
c.1859T>G (p.Ile620Ser)
7g.117592270T>ACA457449049CFTRc.2103T>A (p.Ile701=)
c.*1817T>A (n.*1817T>A)
c.1920T>A (p.Ile640=)
c.*403T>A (n.*403T>A)
c.*1927T>A (n.*1927T>A)
c.1677T>A (p.Ile559=)
c.1402-10556T>A (n.1402-10556T>A)
c.2013T>A (p.Ile671=)
c.2193T>A (p.Ile731=)
c.1860T>A (p.Ile620=)
7g.117592270T>CCA457449050CFTRc.2103T>C (p.Ile701=)
c.*1817T>C (n.*1817T>C)
c.1920T>C (p.Ile640=)
c.*403T>C (n.*403T>C)
c.*1927T>C (n.*1927T>C)
c.1677T>C (p.Ile559=)
c.1402-10556T>C (n.1402-10556T>C)
c.2013T>C (p.Ile671=)
c.2193T>C (p.Ile731=)
c.1860T>C (p.Ile620=)
7g.117592270T>GCA368979719CFTRc.2103T>G (p.Ile701Met)
c.*1817T>G (n.*1817T>G)
c.1920T>G (p.Ile640Met)
c.*403T>G (n.*403T>G)
c.*1927T>G (n.*1927T>G)
c.1677T>G (p.Ile559Met)
c.1402-10556T>G (n.1402-10556T>G)
c.2013T>G (p.Ile671Met)
c.2193T>G (p.Ile731Met)
c.1860T>G (p.Ile620Met)
7g.117592271C>ACA368979722CFTRc.2104C>A (p.Leu702Ile)
c.*1818C>A (n.*1818C>A)
c.1921C>A (p.Leu641Ile)
c.*404C>A (n.*404C>A)
c.*1928C>A (n.*1928C>A)
c.1678C>A (p.Leu560Ile)
c.1402-10555C>A (n.1402-10555C>A)
c.2014C>A (p.Leu672Ile)
c.2194C>A (p.Leu732Ile)
c.1861C>A (p.Leu621Ile)
7g.117592271C>GCA368979726CFTRc.2104C>G (p.Leu702Val)
c.*1818C>G (n.*1818C>G)
c.1921C>G (p.Leu641Val)
c.*404C>G (n.*404C>G)
c.*1928C>G (n.*1928C>G)
c.1678C>G (p.Leu560Val)
c.1402-10555C>G (n.1402-10555C>G)
c.2014C>G (p.Leu672Val)
c.2194C>G (p.Leu732Val)
c.1861C>G (p.Leu621Val)
 gnomAD v4
7g.117592271C>TCA368979724CFTRc.2104C>T (p.Leu702Phe)
c.*1818C>T (n.*1818C>T)
c.1921C>T (p.Leu641Phe)
c.*404C>T (n.*404C>T)
c.*1928C>T (n.*1928C>T)
c.1678C>T (p.Leu560Phe)
c.1402-10555C>T (n.1402-10555C>T)
c.2014C>T (p.Leu672Phe)
c.2194C>T (p.Leu732Phe)
c.1861C>T (p.Leu621Phe)
7g.117592272T>ACA368979729CFTRc.2105T>A (p.Leu702His)
c.*1819T>A (n.*1819T>A)
c.1922T>A (p.Leu641His)
c.*405T>A (n.*405T>A)
c.*1929T>A (n.*1929T>A)
c.1679T>A (p.Leu560His)
c.1402-10554T>A (n.1402-10554T>A)
c.2015T>A (p.Leu672His)
c.2195T>A (p.Leu732His)
c.1862T>A (p.Leu621His)
7g.117592272T>CCA368979731CFTRc.2105T>C (p.Leu702Pro)
c.*1819T>C (n.*1819T>C)
c.1922T>C (p.Leu641Pro)
c.*405T>C (n.*405T>C)
c.*1929T>C (n.*1929T>C)
c.1679T>C (p.Leu560Pro)
c.1402-10554T>C (n.1402-10554T>C)
c.2015T>C (p.Leu672Pro)
c.2195T>C (p.Leu732Pro)
c.1862T>C (p.Leu621Pro)
7g.117592272T>GCA368979733CFTRc.2105T>G (p.Leu702Arg)
c.*1819T>G (n.*1819T>G)
c.1922T>G (p.Leu641Arg)
c.*405T>G (n.*405T>G)
c.*1929T>G (n.*1929T>G)
c.1679T>G (p.Leu560Arg)
c.1402-10554T>G (n.1402-10554T>G)
c.2015T>G (p.Leu672Arg)
c.2195T>G (p.Leu732Arg)
c.1862T>G (p.Leu621Arg)
7g.117592273C>ACA457449051CFTRc.2106C>A (p.Leu702=)
c.*1820C>A (n.*1820C>A)
c.1923C>A (p.Leu641=)
c.*406C>A (n.*406C>A)
c.*1930C>A (n.*1930C>A)
c.1680C>A (p.Leu560=)
c.1402-10553C>A (n.1402-10553C>A)
c.2016C>A (p.Leu672=)
c.2196C>A (p.Leu732=)
c.1863C>A (p.Leu621=)
7g.117592273C=CA1737394755CFTRc.2106C= (p.Leu702=)
c.*1820C= (n.*1820C=)
c.1923C= (p.Leu641=)
c.*406C= (n.*406C=)
c.*1930C= (n.*1930C=)
c.1680C= (p.Leu560=)
c.1402-10553C= (n.1402-10553C=)
c.2016C= (p.Leu672=)
c.2196C= (p.Leu732=)
c.1863C= (p.Leu621=)
7g.117592273C>GCA164947832CFTRc.2106C>G (p.Leu702=)
c.*1820C>G (n.*1820C>G)
c.1923C>G (p.Leu641=)
c.*406C>G (n.*406C>G)
c.*1930C>G (n.*1930C>G)
c.1680C>G (p.Leu560=)
c.1402-10553C>G (n.1402-10553C>G)
c.2016C>G (p.Leu672=)
c.2196C>G (p.Leu732=)
c.1863C>G (p.Leu621=)
 ClinVar dbSNP gnomAD v4
7g.117592273C>TCA457449052CFTRc.2106C>T (p.Leu702=)
c.*1820C>T (n.*1820C>T)
c.1923C>T (p.Leu641=)
c.*406C>T (n.*406C>T)
c.*1930C>T (n.*1930C>T)
c.1680C>T (p.Leu560=)
c.1402-10553C>T (n.1402-10553C>T)
c.2016C>T (p.Leu672=)
c.2196C>T (p.Leu732=)
c.1863C>T (p.Leu621=)
 ClinVar dbSNP
7g.117592274A>CCA368979737CFTRc.2107A>C (p.Asn703His)
c.*1821A>C (n.*1821A>C)
c.1924A>C (p.Asn642His)
c.*407A>C (n.*407A>C)
c.*1931A>C (n.*1931A>C)
c.1681A>C (p.Asn561His)
c.1402-10552A>C (n.1402-10552A>C)
c.2017A>C (p.Asn673His)
c.2197A>C (p.Asn733His)
c.1864A>C (p.Asn622His)
7g.117592274A>GCA368979741CFTRc.2107A>G (p.Asn703Asp)
c.*1821A>G (n.*1821A>G)
c.1924A>G (p.Asn642Asp)
c.*407A>G (n.*407A>G)
c.*1931A>G (n.*1931A>G)
c.1681A>G (p.Asn561Asp)
c.1402-10552A>G (n.1402-10552A>G)
c.2017A>G (p.Asn673Asp)
c.2197A>G (p.Asn733Asp)
c.1864A>G (p.Asn622Asp)
 ClinVar
7g.117592274A>TCA368979739CFTRc.2107A>T (p.Asn703Tyr)
c.*1821A>T (n.*1821A>T)
c.1924A>T (p.Asn642Tyr)
c.*407A>T (n.*407A>T)
c.*1931A>T (n.*1931A>T)
c.1681A>T (p.Asn561Tyr)
c.1402-10552A>T (n.1402-10552A>T)
c.2017A>T (p.Asn673Tyr)
c.2197A>T (p.Asn733Tyr)
c.1864A>T (p.Asn622Tyr)
7g.117592275A=CA1737394757CFTRc.2108A= (p.Asn703=)
c.*1822A= (n.*1822A=)
c.1925A= (p.Asn642=)
c.*408A= (n.*408A=)
c.*1932A= (n.*1932A=)
c.1682A= (p.Asn561=)
c.1402-10551A= (n.1402-10551A=)
c.2018A= (p.Asn673=)
c.2198A= (p.Asn733=)
c.1865A= (p.Asn622=)
7g.117592275A>CCA368979744CFTRc.2108A>C (p.Asn703Thr)
c.*1822A>C (n.*1822A>C)
c.1925A>C (p.Asn642Thr)
c.*408A>C (n.*408A>C)
c.*1932A>C (n.*1932A>C)
c.1682A>C (p.Asn561Thr)
c.1402-10551A>C (n.1402-10551A>C)
c.2018A>C (p.Asn673Thr)
c.2198A>C (p.Asn733Thr)
c.1865A>C (p.Asn622Thr)
 ClinVar
7g.117592275A>GCA368979746CFTRc.2108A>G (p.Asn703Ser)
c.*1822A>G (n.*1822A>G)
c.1925A>G (p.Asn642Ser)
c.*408A>G (n.*408A>G)
c.*1932A>G (n.*1932A>G)
c.1682A>G (p.Asn561Ser)
c.1402-10551A>G (n.1402-10551A>G)
c.2018A>G (p.Asn673Ser)
c.2198A>G (p.Asn733Ser)
c.1865A>G (p.Asn622Ser)
7g.117592275A>TCA4451140CFTRc.2108A>T (p.Asn703Ile)
c.*1822A>T (n.*1822A>T)
c.1925A>T (p.Asn642Ile)
c.*408A>T (n.*408A>T)
c.*1932A>T (n.*1932A>T)
c.1682A>T (p.Asn561Ile)
c.1402-10551A>T (n.1402-10551A>T)
c.2018A>T (p.Asn673Ile)
c.2198A>T (p.Asn733Ile)
c.1865A>T (p.Asn622Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592276T>ACA368979751CFTRc.2109T>A (p.Asn703Lys)
c.*1823T>A (n.*1823T>A)
c.1926T>A (p.Asn642Lys)
c.*409T>A (n.*409T>A)
c.*1933T>A (n.*1933T>A)
c.1683T>A (p.Asn561Lys)
c.1402-10550T>A (n.1402-10550T>A)
c.2019T>A (p.Asn673Lys)
c.2199T>A (p.Asn733Lys)
c.1866T>A (p.Asn622Lys)
7g.117592276T>CCA4451141CFTRc.2109T>C (p.Asn703=)
c.*1823T>C (n.*1823T>C)
c.1926T>C (p.Asn642=)
c.*409T>C (n.*409T>C)
c.*1933T>C (n.*1933T>C)
c.1683T>C (p.Asn561=)
c.1402-10550T>C (n.1402-10550T>C)
c.2019T>C (p.Asn673=)
c.2199T>C (p.Asn733=)
c.1866T>C (p.Asn622=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592276T>GCA368979757CFTRc.2109T>G (p.Asn703Lys)
c.*1823T>G (n.*1823T>G)
c.1926T>G (p.Asn642Lys)
c.*409T>G (n.*409T>G)
c.*1933T>G (n.*1933T>G)
c.1683T>G (p.Asn561Lys)
c.1402-10550T>G (n.1402-10550T>G)
c.2019T>G (p.Asn673Lys)
c.2199T>G (p.Asn733Lys)
c.1866T>G (p.Asn622Lys)
7g.117592276T=CA1737394761CFTRc.2109T= (p.Asn703=)
c.*1823T= (n.*1823T=)
c.1926T= (p.Asn642=)
c.*409T= (n.*409T=)
c.*1933T= (n.*1933T=)
c.1683T= (p.Asn561=)
c.1402-10550T= (n.1402-10550T=)
c.2019T= (p.Asn673=)
c.2199T= (p.Asn733=)
c.1866T= (p.Asn622=)
7g.117592277C>ACA368979760CFTRc.2110C>A (p.Pro704Thr)
c.*1824C>A (n.*1824C>A)
c.1927C>A (p.Pro643Thr)
c.*410C>A (n.*410C>A)
c.*1934C>A (n.*1934C>A)
c.1684C>A (p.Pro562Thr)
c.1402-10549C>A (n.1402-10549C>A)
c.2020C>A (p.Pro674Thr)
c.2200C>A (p.Pro734Thr)
c.1867C>A (p.Pro623Thr)
 dbSNP gnomAD v4
7g.117592277C=CA1737394766CFTRc.2110C= (p.Pro704=)
c.*1824C= (n.*1824C=)
c.1927C= (p.Pro643=)
c.*410C= (n.*410C=)
c.*1934C= (n.*1934C=)
c.1684C= (p.Pro562=)
c.1402-10549C= (n.1402-10549C=)
c.2020C= (p.Pro674=)
c.2200C= (p.Pro734=)
c.1867C= (p.Pro623=)
7g.117592277C>GCA368979769CFTRc.2110C>G (p.Pro704Ala)
c.*1824C>G (n.*1824C>G)
c.1927C>G (p.Pro643Ala)
c.*410C>G (n.*410C>G)
c.*1934C>G (n.*1934C>G)
c.1684C>G (p.Pro562Ala)
c.1402-10549C>G (n.1402-10549C>G)
c.2020C>G (p.Pro674Ala)
c.2200C>G (p.Pro734Ala)
c.1867C>G (p.Pro623Ala)
7g.117592277C>TCA368979774CFTRc.2110C>T (p.Pro704Ser)
c.*1824C>T (n.*1824C>T)
c.1927C>T (p.Pro643Ser)
c.*410C>T (n.*410C>T)
c.*1934C>T (n.*1934C>T)
c.1684C>T (p.Pro562Ser)
c.1402-10549C>T (n.1402-10549C>T)
c.2020C>T (p.Pro674Ser)
c.2200C>T (p.Pro734Ser)
c.1867C>T (p.Pro623Ser)
7g.117592278C>ACA368979782CFTRc.2111C>A (p.Pro704Gln)
c.*1825C>A (n.*1825C>A)
c.1928C>A (p.Pro643Gln)
c.*411C>A (n.*411C>A)
c.*1935C>A (n.*1935C>A)
c.1685C>A (p.Pro562Gln)
c.1402-10548C>A (n.1402-10548C>A)
c.2021C>A (p.Pro674Gln)
c.2201C>A (p.Pro734Gln)
c.1868C>A (p.Pro623Gln)
7g.117592278C=CA1737394772CFTRc.2111C= (p.Pro704=)
c.*1825C= (n.*1825C=)
c.1928C= (p.Pro643=)
c.*411C= (n.*411C=)
c.*1935C= (n.*1935C=)
c.1685C= (p.Pro562=)
c.1402-10548C= (n.1402-10548C=)
c.2021C= (p.Pro674=)
c.2201C= (p.Pro734=)
c.1868C= (p.Pro623=)
7g.117592278C>GCA368979792CFTRc.2111C>G (p.Pro704Arg)
c.*1825C>G (n.*1825C>G)
c.1928C>G (p.Pro643Arg)
c.*411C>G (n.*411C>G)
c.*1935C>G (n.*1935C>G)
c.1685C>G (p.Pro562Arg)
c.1402-10548C>G (n.1402-10548C>G)
c.2021C>G (p.Pro674Arg)
c.2201C>G (p.Pro734Arg)
c.1868C>G (p.Pro623Arg)
 dbSNP gnomAD v2 gnomAD v4
7g.117592278C>TCA4451142CFTRc.2111C>T (p.Pro704Leu)
c.*1825C>T (n.*1825C>T)
c.1928C>T (p.Pro643Leu)
c.*411C>T (n.*411C>T)
c.*1935C>T (n.*1935C>T)
c.1685C>T (p.Pro562Leu)
c.1402-10548C>T (n.1402-10548C>T)
c.2021C>T (p.Pro674Leu)
c.2201C>T (p.Pro734Leu)
c.1868C>T (p.Pro623Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592279A=CA1737394777CFTRc.2112A= (p.Pro704=)
c.*1826A= (n.*1826A=)
c.1929A= (p.Pro643=)
c.*412A= (n.*412A=)
c.*1936A= (n.*1936A=)
c.1686A= (p.Pro562=)
c.1402-10547A= (n.1402-10547A=)
c.2022A= (p.Pro674=)
c.2202A= (p.Pro734=)
c.1869A= (p.Pro623=)
7g.117592279A>CCA457449053CFTRc.2112A>C (p.Pro704=)
c.*1826A>C (n.*1826A>C)
c.1929A>C (p.Pro643=)
c.*412A>C (n.*412A>C)
c.*1936A>C (n.*1936A>C)
c.1686A>C (p.Pro562=)
c.1402-10547A>C (n.1402-10547A>C)
c.2022A>C (p.Pro674=)
c.2202A>C (p.Pro734=)
c.1869A>C (p.Pro623=)
7g.117592279A>GCA164947848CFTRc.2112A>G (p.Pro704=)
c.*1826A>G (n.*1826A>G)
c.1929A>G (p.Pro643=)
c.*412A>G (n.*412A>G)
c.*1936A>G (n.*1936A>G)
c.1686A>G (p.Pro562=)
c.1402-10547A>G (n.1402-10547A>G)
c.2022A>G (p.Pro674=)
c.2202A>G (p.Pro734=)
c.1869A>G (p.Pro623=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117592279A>TCA457449054CFTRc.2112A>T (p.Pro704=)
c.*1826A>T (n.*1826A>T)
c.1929A>T (p.Pro643=)
c.*412A>T (n.*412A>T)
c.*1936A>T (n.*1936A>T)
c.1686A>T (p.Pro562=)
c.1402-10547A>T (n.1402-10547A>T)
c.2022A>T (p.Pro674=)
c.2202A>T (p.Pro734=)
c.1869A>T (p.Pro623=)
7g.117592280A=CA1737394779CFTRc.2113A= (p.Ile705=)
c.*1827A= (n.*1827A=)
c.1930A= (p.Ile644=)
c.*413A= (n.*413A=)
c.*1937A= (n.*1937A=)
c.1687A= (p.Ile563=)
c.1402-10546A= (n.1402-10546A=)
c.2023A= (p.Ile675=)
c.2203A= (p.Ile735=)
c.1870A= (p.Ile624=)
7g.117592280A>CCA368979794CFTRc.2113A>C (p.Ile705Leu)
c.*1827A>C (n.*1827A>C)
c.1930A>C (p.Ile644Leu)
c.*413A>C (n.*413A>C)
c.*1937A>C (n.*1937A>C)
c.1687A>C (p.Ile563Leu)
c.1402-10546A>C (n.1402-10546A>C)
c.2023A>C (p.Ile675Leu)
c.2203A>C (p.Ile735Leu)
c.1870A>C (p.Ile624Leu)
7g.117592280A>GCA4451143CFTRc.2113A>G (p.Ile705Val)
c.*1827A>G (n.*1827A>G)
c.1930A>G (p.Ile644Val)
c.*413A>G (n.*413A>G)
c.*1937A>G (n.*1937A>G)
c.1687A>G (p.Ile563Val)
c.1402-10546A>G (n.1402-10546A>G)
c.2023A>G (p.Ile675Val)
c.2203A>G (p.Ile735Val)
c.1870A>G (p.Ile624Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592280A>TCA368979795CFTRc.2113A>T (p.Ile705Phe)
c.*1827A>T (n.*1827A>T)
c.1930A>T (p.Ile644Phe)
c.*413A>T (n.*413A>T)
c.*1937A>T (n.*1937A>T)
c.1687A>T (p.Ile563Phe)
c.1402-10546A>T (n.1402-10546A>T)
c.2023A>T (p.Ile675Phe)
c.2203A>T (p.Ile735Phe)
c.1870A>T (p.Ile624Phe)
7g.117592281T>ACA368979797CFTRc.2114T>A (p.Ile705Asn)
c.*1828T>A (n.*1828T>A)
c.1931T>A (p.Ile644Asn)
c.*414T>A (n.*414T>A)
c.*1938T>A (n.*1938T>A)
c.1688T>A (p.Ile563Asn)
c.1402-10545T>A (n.1402-10545T>A)
c.2024T>A (p.Ile675Asn)
c.2204T>A (p.Ile735Asn)
c.1871T>A (p.Ile624Asn)
7g.117592281T>CCA368979802CFTRc.2114T>C (p.Ile705Thr)
c.*1828T>C (n.*1828T>C)
c.1931T>C (p.Ile644Thr)
c.*414T>C (n.*414T>C)
c.*1938T>C (n.*1938T>C)
c.1688T>C (p.Ile563Thr)
c.1402-10545T>C (n.1402-10545T>C)
c.2024T>C (p.Ile675Thr)
c.2204T>C (p.Ile735Thr)
c.1871T>C (p.Ile624Thr)
7g.117592281T>GCA368979800CFTRc.2114T>G (p.Ile705Ser)
c.*1828T>G (n.*1828T>G)
c.1931T>G (p.Ile644Ser)
c.*414T>G (n.*414T>G)
c.*1938T>G (n.*1938T>G)
c.1688T>G (p.Ile563Ser)
c.1402-10545T>G (n.1402-10545T>G)
c.2024T>G (p.Ile675Ser)
c.2204T>G (p.Ile735Ser)
c.1871T>G (p.Ile624Ser)
7g.117592282C>ACA457449056CFTRc.2115C>A (p.Ile705=)
c.*1829C>A (n.*1829C>A)
c.1932C>A (p.Ile644=)
c.*415C>A (n.*415C>A)
c.*1939C>A (n.*1939C>A)
c.1689C>A (p.Ile563=)
c.1402-10544C>A (n.1402-10544C>A)
c.2025C>A (p.Ile675=)
c.2205C>A (p.Ile735=)
c.1872C>A (p.Ile624=)
 ClinVar dbSNP gnomAD v4
7g.117592282C=CA1737394784CFTRc.2115C= (p.Ile705=)
c.*1829C= (n.*1829C=)
c.1932C= (p.Ile644=)
c.*415C= (n.*415C=)
c.*1939C= (n.*1939C=)
c.1689C= (p.Ile563=)
c.1402-10544C= (n.1402-10544C=)
c.2025C= (p.Ile675=)
c.2205C= (p.Ile735=)
c.1872C= (p.Ile624=)
7g.117592282C>GCA368979805CFTRc.2115C>G (p.Ile705Met)
c.*1829C>G (n.*1829C>G)
c.1932C>G (p.Ile644Met)
c.*415C>G (n.*415C>G)
c.*1939C>G (n.*1939C>G)
c.1689C>G (p.Ile563Met)
c.1402-10544C>G (n.1402-10544C>G)
c.2025C>G (p.Ile675Met)
c.2205C>G (p.Ile735Met)
c.1872C>G (p.Ile624Met)
7g.117592282C>TCA457449055CFTRc.2115C>T (p.Ile705=)
c.*1829C>T (n.*1829C>T)
c.1932C>T (p.Ile644=)
c.*415C>T (n.*415C>T)
c.*1939C>T (n.*1939C>T)
c.1689C>T (p.Ile563=)
c.1402-10544C>T (n.1402-10544C>T)
c.2025C>T (p.Ile675=)
c.2205C>T (p.Ile735=)
c.1872C>T (p.Ile624=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117592283A>CCA368979813CFTRc.2116A>C (p.Asn706His)
c.*1830A>C (n.*1830A>C)
c.1933A>C (p.Asn645His)
c.*416A>C (n.*416A>C)
c.*1940A>C (n.*1940A>C)
c.1690A>C (p.Asn564His)
c.1402-10543A>C (n.1402-10543A>C)
c.2026A>C (p.Asn676His)
c.2206A>C (p.Asn736His)
c.1873A>C (p.Asn625His)
7g.117592283A>GCA368979809CFTRc.2116A>G (p.Asn706Asp)
c.*1830A>G (n.*1830A>G)
c.1933A>G (p.Asn645Asp)
c.*416A>G (n.*416A>G)
c.*1940A>G (n.*1940A>G)
c.1690A>G (p.Asn564Asp)
c.1402-10543A>G (n.1402-10543A>G)
c.2026A>G (p.Asn676Asp)
c.2206A>G (p.Asn736Asp)
c.1873A>G (p.Asn625Asp)
7g.117592283A>TCA368979812CFTRc.2116A>T (p.Asn706Tyr)
c.*1830A>T (n.*1830A>T)
c.1933A>T (p.Asn645Tyr)
c.*416A>T (n.*416A>T)
c.*1940A>T (n.*1940A>T)
c.1690A>T (p.Asn564Tyr)
c.1402-10543A>T (n.1402-10543A>T)
c.2026A>T (p.Asn676Tyr)
c.2206A>T (p.Asn736Tyr)
c.1873A>T (p.Asn625Tyr)
7g.117592284A=CA1737394786CFTRc.2117A= (p.Asn706=)
c.*1831A= (n.*1831A=)
c.1934A= (p.Asn645=)
c.*417A= (n.*417A=)
c.*1941A= (n.*1941A=)
c.1691A= (p.Asn564=)
c.1402-10542A= (n.1402-10542A=)
c.2027A= (p.Asn676=)
c.2207A= (p.Asn736=)
c.1874A= (p.Asn625=)
7g.117592284A>CCA368979816CFTRc.2117A>C (p.Asn706Thr)
c.*1831A>C (n.*1831A>C)
c.1934A>C (p.Asn645Thr)
c.*417A>C (n.*417A>C)
c.*1941A>C (n.*1941A>C)
c.1691A>C (p.Asn564Thr)
c.1402-10542A>C (n.1402-10542A>C)
c.2027A>C (p.Asn676Thr)
c.2207A>C (p.Asn736Thr)
c.1874A>C (p.Asn625Thr)
7g.117592284A>GCA368979817CFTRc.2117A>G (p.Asn706Ser)
c.*1831A>G (n.*1831A>G)
c.1934A>G (p.Asn645Ser)
c.*417A>G (n.*417A>G)
c.*1941A>G (n.*1941A>G)
c.1691A>G (p.Asn564Ser)
c.1402-10542A>G (n.1402-10542A>G)
c.2027A>G (p.Asn676Ser)
c.2207A>G (p.Asn736Ser)
c.1874A>G (p.Asn625Ser)
7g.117592284A>TCA164947853CFTRc.2117A>T (p.Asn706Ile)
c.*1831A>T (n.*1831A>T)
c.1934A>T (p.Asn645Ile)
c.*417A>T (n.*417A>T)
c.*1941A>T (n.*1941A>T)
c.1691A>T (p.Asn564Ile)
c.1402-10542A>T (n.1402-10542A>T)
c.2027A>T (p.Asn676Ile)
c.2207A>T (p.Asn736Ile)
c.1874A>T (p.Asn625Ile)
 dbSNP
7g.117592285C>ACA368979824CFTRc.2118C>A (p.Asn706Lys)
c.*1832C>A (n.*1832C>A)
c.1935C>A (p.Asn645Lys)
c.*418C>A (n.*418C>A)
c.*1942C>A (n.*1942C>A)
c.1692C>A (p.Asn564Lys)
c.1402-10541C>A (n.1402-10541C>A)
c.2028C>A (p.Asn676Lys)
c.2208C>A (p.Asn736Lys)
c.1875C>A (p.Asn625Lys)
7g.117592285C=CA1737394790CFTRc.2118C= (p.Asn706=)
c.*1832C= (n.*1832C=)
c.1935C= (p.Asn645=)
c.*418C= (n.*418C=)
c.*1942C= (n.*1942C=)
c.1692C= (p.Asn564=)
c.1402-10541C= (n.1402-10541C=)
c.2028C= (p.Asn676=)
c.2208C= (p.Asn736=)
c.1875C= (p.Asn625=)
7g.117592285C>GCA368979825CFTRc.2118C>G (p.Asn706Lys)
c.*1832C>G (n.*1832C>G)
c.1935C>G (p.Asn645Lys)
c.*418C>G (n.*418C>G)
c.*1942C>G (n.*1942C>G)
c.1692C>G (p.Asn564Lys)
c.1402-10541C>G (n.1402-10541C>G)
c.2028C>G (p.Asn676Lys)
c.2208C>G (p.Asn736Lys)
c.1875C>G (p.Asn625Lys)
7g.117592285C>TCA457449057CFTRc.2118C>T (p.Asn706=)
c.*1832C>T (n.*1832C>T)
c.1935C>T (p.Asn645=)
c.*418C>T (n.*418C>T)
c.*1942C>T (n.*1942C>T)
c.1692C>T (p.Asn564=)
c.1402-10541C>T (n.1402-10541C>T)
c.2028C>T (p.Asn676=)
c.2208C>T (p.Asn736=)
c.1875C>T (p.Asn625=)
 dbSNP gnomAD v3 gnomAD v4
7g.117592286T>ACA368979827CFTRc.2119T>A (p.Ser707Thr)
c.*1833T>A (n.*1833T>A)
c.1936T>A (p.Ser646Thr)
c.*419T>A (n.*419T>A)
c.*1943T>A (n.*1943T>A)
c.1693T>A (p.Ser565Thr)
c.1402-10540T>A (n.1402-10540T>A)
c.2029T>A (p.Ser677Thr)
c.2209T>A (p.Ser737Thr)
c.1876T>A (p.Ser626Thr)
7g.117592286T>CCA368979829CFTRc.2119T>C (p.Ser707Pro)
c.*1833T>C (n.*1833T>C)
c.1936T>C (p.Ser646Pro)
c.*419T>C (n.*419T>C)
c.*1943T>C (n.*1943T>C)
c.1693T>C (p.Ser565Pro)
c.1402-10540T>C (n.1402-10540T>C)
c.2029T>C (p.Ser677Pro)
c.2209T>C (p.Ser737Pro)
c.1876T>C (p.Ser626Pro)
7g.117592286T>GCA368979832CFTRc.2119T>G (p.Ser707Ala)
c.*1833T>G (n.*1833T>G)
c.1936T>G (p.Ser646Ala)
c.*419T>G (n.*419T>G)
c.*1943T>G (n.*1943T>G)
c.1693T>G (p.Ser565Ala)
c.1402-10540T>G (n.1402-10540T>G)
c.2029T>G (p.Ser677Ala)
c.2209T>G (p.Ser737Ala)
c.1876T>G (p.Ser626Ala)
7g.117592287C>ACA368979836CFTRc.2120C>A (p.Ser707Tyr)
c.*1834C>A (n.*1834C>A)
c.1937C>A (p.Ser646Tyr)
c.*420C>A (n.*420C>A)
c.*1944C>A (n.*1944C>A)
c.1694C>A (p.Ser565Tyr)
c.1402-10539C>A (n.1402-10539C>A)
c.2030C>A (p.Ser677Tyr)
c.2210C>A (p.Ser737Tyr)
c.1877C>A (p.Ser626Tyr)
7g.117592287C=CA1737394796CFTRc.2120C= (p.Ser707=)
c.*1834C= (n.*1834C=)
c.1937C= (p.Ser646=)
c.*420C= (n.*420C=)
c.*1944C= (n.*1944C=)
c.1694C= (p.Ser565=)
c.1402-10539C= (n.1402-10539C=)
c.2030C= (p.Ser677=)
c.2210C= (p.Ser737=)
c.1877C= (p.Ser626=)
7g.117592287C>GCA368979840CFTRc.2120C>G (p.Ser707Cys)
c.*1834C>G (n.*1834C>G)
c.1937C>G (p.Ser646Cys)
c.*420C>G (n.*420C>G)
c.*1944C>G (n.*1944C>G)
c.1694C>G (p.Ser565Cys)
c.1402-10539C>G (n.1402-10539C>G)
c.2030C>G (p.Ser677Cys)
c.2210C>G (p.Ser737Cys)
c.1877C>G (p.Ser626Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117592287C>TCA368979843CFTRc.2120C>T (p.Ser707Phe)
c.*1834C>T (n.*1834C>T)
c.1937C>T (p.Ser646Phe)
c.*420C>T (n.*420C>T)
c.*1944C>T (n.*1944C>T)
c.1694C>T (p.Ser565Phe)
c.1402-10539C>T (n.1402-10539C>T)
c.2030C>T (p.Ser677Phe)
c.2210C>T (p.Ser737Phe)
c.1877C>T (p.Ser626Phe)
7g.117592288T>ACA457449058CFTRc.2121T>A (p.Ser707=)
c.*1835T>A (n.*1835T>A)
c.1938T>A (p.Ser646=)
c.*421T>A (n.*421T>A)
c.*1945T>A (n.*1945T>A)
c.1695T>A (p.Ser565=)
c.1402-10538T>A (n.1402-10538T>A)
c.2031T>A (p.Ser677=)
c.2211T>A (p.Ser737=)
c.1878T>A (p.Ser626=)
 ClinVar dbSNP
7g.117592288T>CCA457449059CFTRc.2121T>C (p.Ser707=)
c.*1835T>C (n.*1835T>C)
c.1938T>C (p.Ser646=)
c.*421T>C (n.*421T>C)
c.*1945T>C (n.*1945T>C)
c.1695T>C (p.Ser565=)
c.1402-10538T>C (n.1402-10538T>C)
c.2031T>C (p.Ser677=)
c.2211T>C (p.Ser737=)
c.1878T>C (p.Ser626=)
7g.117592288T>GCA457449060CFTRc.2121T>G (p.Ser707=)
c.*1835T>G (n.*1835T>G)
c.1938T>G (p.Ser646=)
c.*421T>G (n.*421T>G)
c.*1945T>G (n.*1945T>G)
c.1695T>G (p.Ser565=)
c.1402-10538T>G (n.1402-10538T>G)
c.2031T>G (p.Ser677=)
c.2211T>G (p.Ser737=)
c.1878T>G (p.Ser626=)
7g.117592289A>CCA368979844CFTRc.2122A>C (p.Ile708Leu)
c.*1836A>C (n.*1836A>C)
c.1939A>C (p.Ile647Leu)
c.*422A>C (n.*422A>C)
c.*1946A>C (n.*1946A>C)
c.1696A>C (p.Ile566Leu)
c.1402-10537A>C (n.1402-10537A>C)
c.2032A>C (p.Ile678Leu)
c.2212A>C (p.Ile738Leu)
c.1879A>C (p.Ile627Leu)
7g.117592289A>GCA368979847CFTRc.2122A>G (p.Ile708Val)
c.*1836A>G (n.*1836A>G)
c.1939A>G (p.Ile647Val)
c.*422A>G (n.*422A>G)
c.*1946A>G (n.*1946A>G)
c.1696A>G (p.Ile566Val)
c.1402-10537A>G (n.1402-10537A>G)
c.2032A>G (p.Ile678Val)
c.2212A>G (p.Ile738Val)
c.1879A>G (p.Ile627Val)
 COSMIC
7g.117592289A>TCA368979845CFTRc.2122A>T (p.Ile708Leu)
c.*1836A>T (n.*1836A>T)
c.1939A>T (p.Ile647Leu)
c.*422A>T (n.*422A>T)
c.*1946A>T (n.*1946A>T)
c.1696A>T (p.Ile566Leu)
c.1402-10537A>T (n.1402-10537A>T)
c.2032A>T (p.Ile678Leu)
c.2212A>T (p.Ile738Leu)
c.1879A>T (p.Ile627Leu)
7g.117592290T>ACA368979850CFTRc.2123T>A (p.Ile708Lys)
c.*1837T>A (n.*1837T>A)
c.1940T>A (p.Ile647Lys)
c.*423T>A (n.*423T>A)
c.*1947T>A (n.*1947T>A)
c.1697T>A (p.Ile566Lys)
c.1402-10536T>A (n.1402-10536T>A)
c.2033T>A (p.Ile678Lys)
c.2213T>A (p.Ile738Lys)
c.1880T>A (p.Ile627Lys)
7g.117592290T>CCA4451144CFTRc.2123T>C (p.Ile708Thr)
c.*1837T>C (n.*1837T>C)
c.1940T>C (p.Ile647Thr)
c.*423T>C (n.*423T>C)
c.*1947T>C (n.*1947T>C)
c.1697T>C (p.Ile566Thr)
c.1402-10536T>C (n.1402-10536T>C)
c.2033T>C (p.Ile678Thr)
c.2213T>C (p.Ile738Thr)
c.1880T>C (p.Ile627Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592290T>GCA368979859CFTRc.2123T>G (p.Ile708Arg)
c.*1837T>G (n.*1837T>G)
c.1940T>G (p.Ile647Arg)
c.*423T>G (n.*423T>G)
c.*1947T>G (n.*1947T>G)
c.1697T>G (p.Ile566Arg)
c.1402-10536T>G (n.1402-10536T>G)
c.2033T>G (p.Ile678Arg)
c.2213T>G (p.Ile738Arg)
c.1880T>G (p.Ile627Arg)
7g.117592290T=CA1737394807CFTRc.2123T= (p.Ile708=)
c.*1837T= (n.*1837T=)
c.1940T= (p.Ile647=)
c.*423T= (n.*423T=)
c.*1947T= (n.*1947T=)
c.1697T= (p.Ile566=)
c.1402-10536T= (n.1402-10536T=)
c.2033T= (p.Ile678=)
c.2213T= (p.Ile738=)
c.1880T= (p.Ile627=)
7g.117592291A>CCA457449061CFTRc.2124A>C (p.Ile708=)
c.*1838A>C (n.*1838A>C)
c.1941A>C (p.Ile647=)
c.*424A>C (n.*424A>C)
c.*1948A>C (n.*1948A>C)
c.1698A>C (p.Ile566=)
c.1402-10535A>C (n.1402-10535A>C)
c.2034A>C (p.Ile678=)
c.2214A>C (p.Ile738=)
c.1881A>C (p.Ile627=)
 gnomAD v4
7g.117592291A>GCA368979862CFTRc.2124A>G (p.Ile708Met)
c.*1838A>G (n.*1838A>G)
c.1941A>G (p.Ile647Met)
c.*424A>G (n.*424A>G)
c.*1948A>G (n.*1948A>G)
c.1698A>G (p.Ile566Met)
c.1402-10535A>G (n.1402-10535A>G)
c.2034A>G (p.Ile678Met)
c.2214A>G (p.Ile738Met)
c.1881A>G (p.Ile627Met)
7g.117592291A>TCA457449062CFTRc.2124A>T (p.Ile708=)
c.*1838A>T (n.*1838A>T)
c.1941A>T (p.Ile647=)
c.*424A>T (n.*424A>T)
c.*1948A>T (n.*1948A>T)
c.1698A>T (p.Ile566=)
c.1402-10535A>T (n.1402-10535A>T)
c.2034A>T (p.Ile678=)
c.2214A>T (p.Ile738=)
c.1881A>T (p.Ile627=)
 ClinVar
7g.117592292C>ACA457449063CFTRc.2125C>A (p.Arg709=)
c.*1839C>A (n.*1839C>A)
c.1942C>A (p.Arg648=)
c.*425C>A (n.*425C>A)
c.*1949C>A (n.*1949C>A)
c.1699C>A (p.Arg567=)
c.1402-10534C>A (n.1402-10534C>A)
c.2035C>A (p.Arg679=)
c.2215C>A (p.Arg739=)
c.1882C>A (p.Arg628=)
7g.117592292C=CA1737394818CFTRc.2125C= (p.Arg709=)
c.*1839C= (n.*1839C=)
c.1942C= (p.Arg648=)
c.*425C= (n.*425C=)
c.*1949C= (n.*1949C=)
c.1699C= (p.Arg567=)
c.1402-10534C= (n.1402-10534C=)
c.2035C= (p.Arg679=)
c.2215C= (p.Arg739=)
c.1882C= (p.Arg628=)
7g.117592292C>GCA368979863CFTRc.2125C>G (p.Arg709Gly)
c.*1839C>G (n.*1839C>G)
c.1942C>G (p.Arg648Gly)
c.*425C>G (n.*425C>G)
c.*1949C>G (n.*1949C>G)
c.1699C>G (p.Arg567Gly)
c.1402-10534C>G (n.1402-10534C>G)
c.2035C>G (p.Arg679Gly)
c.2215C>G (p.Arg739Gly)
c.1882C>G (p.Arg628Gly)
 ClinVar dbSNP gnomAD v4
7g.117592292C>TCA328093CFTRc.2125C>T (p.Arg709Ter)
c.*1839C>T (n.*1839C>T)
c.1942C>T (p.Arg648Ter)
c.*425C>T (n.*425C>T)
c.*1949C>T (n.*1949C>T)
c.1699C>T (p.Arg567Ter)
c.1402-10534C>T (n.1402-10534C>T)
c.2035C>T (p.Arg679Ter)
c.2215C>T (p.Arg739Ter)
c.1882C>T (p.Arg628Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.117592292_117592293delinsCGCA1737394816CFTRc.2125_2126delinsCG (p.Arg709=)
c.*1839_*1840delinsCG (n.*1839_*1840delinsCG)
c.1942_1943delinsCG (p.Arg648=)
c.*425_*426delinsCG (n.*425_*426delinsCG)
c.*1949_*1950delinsCG (n.*1949_*1950delinsCG)
c.1699_1700delinsCG (p.Arg567=)
c.1402-10534_1402-10533delinsCG (n.1402-10534_1402-10533delinsCG)
c.2035_2036delinsCG (p.Arg679=)
c.2215_2216delinsCG (p.Arg739=)
c.1882_1883delinsCG (p.Arg628=)
7g.117592293delCA164947854CFTRc.2126del (p.Arg709GlnfsTer13)
c.*1840del (n.*1840del)
c.1943del (p.Arg648GlnfsTer13)
c.*426del (n.*426del)
c.*1950del (n.*1950del)
c.1700del (p.Arg567GlnfsTer13)
c.1402-10533del (n.1402-10533del)
c.2036del (p.Arg679GlnfsTer13)
c.2216del (p.Arg739GlnfsTer13)
c.1883del (p.Arg628GlnfsTer13)
 dbSNP
7g.117592293G>ACA326749CFTRc.2126G>A (p.Arg709Gln)
c.*1840G>A (n.*1840G>A)
c.1943G>A (p.Arg648Gln)
c.*426G>A (n.*426G>A)
c.*1950G>A (n.*1950G>A)
c.1700G>A (p.Arg567Gln)
c.1402-10533G>A (n.1402-10533G>A)
c.2036G>A (p.Arg679Gln)
c.2216G>A (p.Arg739Gln)
c.1883G>A (p.Arg628Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
7g.117592293G>CCA368979868CFTRc.2126G>C (p.Arg709Pro)
c.*1840G>C (n.*1840G>C)
c.1943G>C (p.Arg648Pro)
c.*426G>C (n.*426G>C)
c.*1950G>C (n.*1950G>C)
c.1700G>C (p.Arg567Pro)
c.1402-10533G>C (n.1402-10533G>C)
c.2036G>C (p.Arg679Pro)
c.2216G>C (p.Arg739Pro)
c.1883G>C (p.Arg628Pro)
7g.117592293G=CA1737394826CFTRc.2126G= (p.Arg709=)
c.*1840G= (n.*1840G=)
c.1943G= (p.Arg648=)
c.*426G= (n.*426G=)
c.*1950G= (n.*1950G=)
c.1700G= (p.Arg567=)
c.1402-10533G= (n.1402-10533G=)
c.2036G= (p.Arg679=)
c.2216G= (p.Arg739=)
c.1883G= (p.Arg628=)
7g.117592293G>TCA368979871CFTRc.2126G>T (p.Arg709Leu)
c.*1840G>T (n.*1840G>T)
c.1943G>T (p.Arg648Leu)
c.*426G>T (n.*426G>T)
c.*1950G>T (n.*1950G>T)
c.1700G>T (p.Arg567Leu)
c.1402-10533G>T (n.1402-10533G>T)
c.2036G>T (p.Arg679Leu)
c.2216G>T (p.Arg739Leu)
c.1883G>T (p.Arg628Leu)
7g.117592294A>CCA457449064CFTRc.2127A>C (p.Arg709=)
c.*1841A>C (n.*1841A>C)
c.1944A>C (p.Arg648=)
c.*427A>C (n.*427A>C)
c.*1951A>C (n.*1951A>C)
c.1701A>C (p.Arg567=)
c.1402-10532A>C (n.1402-10532A>C)
c.2037A>C (p.Arg679=)
c.2217A>C (p.Arg739=)
c.1884A>C (p.Arg628=)
7g.117592294A>GCA457449065CFTRc.2127A>G (p.Arg709=)
c.*1841A>G (n.*1841A>G)
c.1944A>G (p.Arg648=)
c.*427A>G (n.*427A>G)
c.*1951A>G (n.*1951A>G)
c.1701A>G (p.Arg567=)
c.1402-10532A>G (n.1402-10532A>G)
c.2037A>G (p.Arg679=)
c.2217A>G (p.Arg739=)
c.1884A>G (p.Arg628=)
 ClinVar dbSNP
7g.117592294A>TCA457449066CFTRc.2127A>T (p.Arg709=)
c.*1841A>T (n.*1841A>T)
c.1944A>T (p.Arg648=)
c.*427A>T (n.*427A>T)
c.*1951A>T (n.*1951A>T)
c.1701A>T (p.Arg567=)
c.1402-10532A>T (n.1402-10532A>T)
c.2037A>T (p.Arg679=)
c.2217A>T (p.Arg739=)
c.1884A>T (p.Arg628=)
7g.117592295A=CA1737394835CFTRc.2128A= (p.Lys710=)
c.*1842A= (n.*1842A=)
c.1945A= (p.Lys649=)
c.*428A= (n.*428A=)
c.*1952A= (n.*1952A=)
c.1702A= (p.Lys568=)
c.1402-10531A= (n.1402-10531A=)
c.2038A= (p.Lys680=)
c.2218A= (p.Lys740=)
c.1885A= (p.Lys629=)
7g.117592295A>CCA368979887CFTRc.2128A>C (p.Lys710Gln)
c.*1842A>C (n.*1842A>C)
c.1945A>C (p.Lys649Gln)
c.*428A>C (n.*428A>C)
c.*1952A>C (n.*1952A>C)
c.1702A>C (p.Lys568Gln)
c.1402-10531A>C (n.1402-10531A>C)
c.2038A>C (p.Lys680Gln)
c.2218A>C (p.Lys740Gln)
c.1885A>C (p.Lys629Gln)
7g.117592295A>GCA368979884CFTRc.2128A>G (p.Lys710Glu)
c.*1842A>G (n.*1842A>G)
c.1945A>G (p.Lys649Glu)
c.*428A>G (n.*428A>G)
c.*1952A>G (n.*1952A>G)
c.1702A>G (p.Lys568Glu)
c.1402-10531A>G (n.1402-10531A>G)
c.2038A>G (p.Lys680Glu)
c.2218A>G (p.Lys740Glu)
c.1885A>G (p.Lys629Glu)
7g.117592295A>TCA325588CFTRc.2128A>T (p.Lys710Ter)
c.*1842A>T (n.*1842A>T)
c.1945A>T (p.Lys649Ter)
c.*428A>T (n.*428A>T)
c.*1952A>T (n.*1952A>T)
c.1702A>T (p.Lys568Ter)
c.1402-10531A>T (n.1402-10531A>T)
c.2038A>T (p.Lys680Ter)
c.2218A>T (p.Lys740Ter)
c.1885A>T (p.Lys629Ter)
 ClinVar dbSNP gnomAD v4
7g.117592296A>CCA368979891CFTRc.2129A>C (p.Lys710Thr)
c.*1843A>C (n.*1843A>C)
c.1946A>C (p.Lys649Thr)
c.*429A>C (n.*429A>C)
c.*1953A>C (n.*1953A>C)
c.1703A>C (p.Lys568Thr)
c.1402-10530A>C (n.1402-10530A>C)
c.2039A>C (p.Lys680Thr)
c.2219A>C (p.Lys740Thr)
c.1886A>C (p.Lys629Thr)
7g.117592296A>GCA368979893CFTRc.2129A>G (p.Lys710Arg)
c.*1843A>G (n.*1843A>G)
c.1946A>G (p.Lys649Arg)
c.*429A>G (n.*429A>G)
c.*1953A>G (n.*1953A>G)
c.1703A>G (p.Lys568Arg)
c.1402-10530A>G (n.1402-10530A>G)
c.2039A>G (p.Lys680Arg)
c.2219A>G (p.Lys740Arg)
c.1886A>G (p.Lys629Arg)
 ClinVar dbSNP
7g.117592296A>TCA368979895CFTRc.2129A>T (p.Lys710Ile)
c.*1843A>T (n.*1843A>T)
c.1946A>T (p.Lys649Ile)
c.*429A>T (n.*429A>T)
c.*1953A>T (n.*1953A>T)
c.1703A>T (p.Lys568Ile)
c.1402-10530A>T (n.1402-10530A>T)
c.2039A>T (p.Lys680Ile)
c.2219A>T (p.Lys740Ile)
c.1886A>T (p.Lys629Ile)
7g.117592297A=CA1737394840CFTRc.2130A= (p.Lys710=)
c.*1844A= (n.*1844A=)
c.1947A= (p.Lys649=)
c.*430A= (n.*430A=)
c.*1954A= (n.*1954A=)
c.1704A= (p.Lys568=)
c.1402-10529A= (n.1402-10529A=)
c.2040A= (p.Lys680=)
c.2220A= (p.Lys740=)
c.1887A= (p.Lys629=)
7g.117592297A>CCA368979899CFTRc.2130A>C (p.Lys710Asn)
c.*1844A>C (n.*1844A>C)
c.1947A>C (p.Lys649Asn)
c.*430A>C (n.*430A>C)
c.*1954A>C (n.*1954A>C)
c.1704A>C (p.Lys568Asn)
c.1402-10529A>C (n.1402-10529A>C)
c.2040A>C (p.Lys680Asn)
c.2220A>C (p.Lys740Asn)
c.1887A>C (p.Lys629Asn)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117592297A>GCA457449067CFTRc.2130A>G (p.Lys710=)
c.*1844A>G (n.*1844A>G)
c.1947A>G (p.Lys649=)
c.*430A>G (n.*430A>G)
c.*1954A>G (n.*1954A>G)
c.1704A>G (p.Lys568=)
c.1402-10529A>G (n.1402-10529A>G)
c.2040A>G (p.Lys680=)
c.2220A>G (p.Lys740=)
c.1887A>G (p.Lys629=)
 ClinVar
7g.117592297A>TCA368979901CFTRc.2130A>T (p.Lys710Asn)
c.*1844A>T (n.*1844A>T)
c.1947A>T (p.Lys649Asn)
c.*430A>T (n.*430A>T)
c.*1954A>T (n.*1954A>T)
c.1704A>T (p.Lys568Asn)
c.1402-10529A>T (n.1402-10529A>T)
c.2040A>T (p.Lys680Asn)
c.2220A>T (p.Lys740Asn)
c.1887A>T (p.Lys629Asn)
7g.117592298T>ACA368979910CFTRc.2131T>A (p.Phe711Ile)
c.*1845T>A (n.*1845T>A)
c.1948T>A (p.Phe650Ile)
c.*431T>A (n.*431T>A)
c.*1955T>A (n.*1955T>A)
c.1705T>A (p.Phe569Ile)
c.1402-10528T>A (n.1402-10528T>A)
c.2041T>A (p.Phe681Ile)
c.2221T>A (p.Phe741Ile)
c.1888T>A (p.Phe630Ile)
7g.117592298T>CCA368979911CFTRc.2131T>C (p.Phe711Leu)
c.*1845T>C (n.*1845T>C)
c.1948T>C (p.Phe650Leu)
c.*431T>C (n.*431T>C)
c.*1955T>C (n.*1955T>C)
c.1705T>C (p.Phe569Leu)
c.1402-10528T>C (n.1402-10528T>C)
c.2041T>C (p.Phe681Leu)
c.2221T>C (p.Phe741Leu)
c.1888T>C (p.Phe630Leu)
 ClinVar dbSNP
7g.117592298T>GCA368979912CFTRc.2131T>G (p.Phe711Val)
c.*1845T>G (n.*1845T>G)
c.1948T>G (p.Phe650Val)
c.*431T>G (n.*431T>G)
c.*1955T>G (n.*1955T>G)
c.1705T>G (p.Phe569Val)
c.1402-10528T>G (n.1402-10528T>G)
c.2041T>G (p.Phe681Val)
c.2221T>G (p.Phe741Val)
c.1888T>G (p.Phe630Val)
 dbSNP gnomAD v4
7g.117592298T=CA1737394845CFTRc.2131T= (p.Phe711=)
c.*1845T= (n.*1845T=)
c.1948T= (p.Phe650=)
c.*431T= (n.*431T=)
c.*1955T= (n.*1955T=)
c.1705T= (p.Phe569=)
c.1402-10528T= (n.1402-10528T=)
c.2041T= (p.Phe681=)
c.2221T= (p.Phe741=)
c.1888T= (p.Phe630=)
7g.117592299T>ACA368979915CFTRc.2132T>A (p.Phe711Tyr)
c.*1846T>A (n.*1846T>A)
c.1949T>A (p.Phe650Tyr)
c.*432T>A (n.*432T>A)
c.*1956T>A (n.*1956T>A)
c.1706T>A (p.Phe569Tyr)
c.1402-10527T>A (n.1402-10527T>A)
c.2042T>A (p.Phe681Tyr)
c.2222T>A (p.Phe741Tyr)
c.1889T>A (p.Phe630Tyr)
7g.117592299T>CCA368979917CFTRc.2132T>C (p.Phe711Ser)
c.*1846T>C (n.*1846T>C)
c.1949T>C (p.Phe650Ser)
c.*432T>C (n.*432T>C)
c.*1956T>C (n.*1956T>C)
c.1706T>C (p.Phe569Ser)
c.1402-10527T>C (n.1402-10527T>C)
c.2042T>C (p.Phe681Ser)
c.2222T>C (p.Phe741Ser)
c.1889T>C (p.Phe630Ser)
7g.117592299T>GCA368979920CFTRc.2132T>G (p.Phe711Cys)
c.*1846T>G (n.*1846T>G)
c.1949T>G (p.Phe650Cys)
c.*432T>G (n.*432T>G)
c.*1956T>G (n.*1956T>G)
c.1706T>G (p.Phe569Cys)
c.1402-10527T>G (n.1402-10527T>G)
c.2042T>G (p.Phe681Cys)
c.2222T>G (p.Phe741Cys)
c.1889T>G (p.Phe630Cys)
7g.117592300T>ACA368979923CFTRc.2133T>A (p.Phe711Leu)
c.*1847T>A (n.*1847T>A)
c.1950T>A (p.Phe650Leu)
c.*433T>A (n.*433T>A)
c.*1957T>A (n.*1957T>A)
c.1707T>A (p.Phe569Leu)
c.1402-10526T>A (n.1402-10526T>A)
c.2043T>A (p.Phe681Leu)
c.2223T>A (p.Phe741Leu)
c.1890T>A (p.Phe630Leu)
7g.117592300T>CCA457449068CFTRc.2133T>C (p.Phe711=)
c.*1847T>C (n.*1847T>C)
c.1950T>C (p.Phe650=)
c.*433T>C (n.*433T>C)
c.*1957T>C (n.*1957T>C)
c.1707T>C (p.Phe569=)
c.1402-10526T>C (n.1402-10526T>C)
c.2043T>C (p.Phe681=)
c.2223T>C (p.Phe741=)
c.1890T>C (p.Phe630=)
7g.117592300T>GCA368979925CFTRc.2133T>G (p.Phe711Leu)
c.*1847T>G (n.*1847T>G)
c.1950T>G (p.Phe650Leu)
c.*433T>G (n.*433T>G)
c.*1957T>G (n.*1957T>G)
c.1707T>G (p.Phe569Leu)
c.1402-10526T>G (n.1402-10526T>G)
c.2043T>G (p.Phe681Leu)
c.2223T>G (p.Phe741Leu)
c.1890T>G (p.Phe630Leu)
7g.117592301T>ACA368979941CFTRc.2134T>A (p.Ser712Thr)
c.*1848T>A (n.*1848T>A)
c.1951T>A (p.Ser651Thr)
c.*434T>A (n.*434T>A)
c.*1958T>A (n.*1958T>A)
c.1708T>A (p.Ser570Thr)
c.1402-10525T>A (n.1402-10525T>A)
c.2044T>A (p.Ser682Thr)
c.2224T>A (p.Ser742Thr)
c.1891T>A (p.Ser631Thr)
7g.117592301T>CCA368979936CFTRc.2134T>C (p.Ser712Pro)
c.*1848T>C (n.*1848T>C)
c.1951T>C (p.Ser651Pro)
c.*434T>C (n.*434T>C)
c.*1958T>C (n.*1958T>C)
c.1708T>C (p.Ser570Pro)
c.1402-10525T>C (n.1402-10525T>C)
c.2044T>C (p.Ser682Pro)
c.2224T>C (p.Ser742Pro)
c.1891T>C (p.Ser631Pro)
7g.117592301T>GCA368979939CFTRc.2134T>G (p.Ser712Ala)
c.*1848T>G (n.*1848T>G)
c.1951T>G (p.Ser651Ala)
c.*434T>G (n.*434T>G)
c.*1958T>G (n.*1958T>G)
c.1708T>G (p.Ser570Ala)
c.1402-10525T>G (n.1402-10525T>G)
c.2044T>G (p.Ser682Ala)
c.2224T>G (p.Ser742Ala)
c.1891T>G (p.Ser631Ala)
7g.117592302C>ACA368979944CFTRc.2135C>A (p.Ser712Tyr)
c.*1849C>A (n.*1849C>A)
c.1952C>A (p.Ser651Tyr)
c.*435C>A (n.*435C>A)
c.*1959C>A (n.*1959C>A)
c.1709C>A (p.Ser570Tyr)
c.1402-10524C>A (n.1402-10524C>A)
c.2045C>A (p.Ser682Tyr)
c.2225C>A (p.Ser742Tyr)
c.1892C>A (p.Ser631Tyr)
7g.117592302C>GCA368979946CFTRc.2135C>G (p.Ser712Cys)
c.*1849C>G (n.*1849C>G)
c.1952C>G (p.Ser651Cys)
c.*435C>G (n.*435C>G)
c.*1959C>G (n.*1959C>G)
c.1709C>G (p.Ser570Cys)
c.1402-10524C>G (n.1402-10524C>G)
c.2045C>G (p.Ser682Cys)
c.2225C>G (p.Ser742Cys)
c.1892C>G (p.Ser631Cys)
7g.117592302C>TCA368979950CFTRc.2135C>T (p.Ser712Phe)
c.*1849C>T (n.*1849C>T)
c.1952C>T (p.Ser651Phe)
c.*435C>T (n.*435C>T)
c.*1959C>T (n.*1959C>T)
c.1709C>T (p.Ser570Phe)
c.1402-10524C>T (n.1402-10524C>T)
c.2045C>T (p.Ser682Phe)
c.2225C>T (p.Ser742Phe)
c.1892C>T (p.Ser631Phe)
7g.117592303C>ACA457449069CFTRc.2136C>A (p.Ser712=)
c.*1850C>A (n.*1850C>A)
c.1953C>A (p.Ser651=)
c.*436C>A (n.*436C>A)
c.*1960C>A (n.*1960C>A)
c.1710C>A (p.Ser570=)
c.1402-10523C>A (n.1402-10523C>A)
c.2046C>A (p.Ser682=)
c.2226C>A (p.Ser742=)
c.1893C>A (p.Ser631=)
7g.117592303C>GCA457449070CFTRc.2136C>G (p.Ser712=)
c.*1850C>G (n.*1850C>G)
c.1953C>G (p.Ser651=)
c.*436C>G (n.*436C>G)
c.*1960C>G (n.*1960C>G)
c.1710C>G (p.Ser570=)
c.1402-10523C>G (n.1402-10523C>G)
c.2046C>G (p.Ser682=)
c.2226C>G (p.Ser742=)
c.1893C>G (p.Ser631=)
7g.117592303C>TCA457449071CFTRc.2136C>T (p.Ser712=)
c.*1850C>T (n.*1850C>T)
c.1953C>T (p.Ser651=)
c.*436C>T (n.*436C>T)
c.*1960C>T (n.*1960C>T)
c.1710C>T (p.Ser570=)
c.1402-10523C>T (n.1402-10523C>T)
c.2046C>T (p.Ser682=)
c.2226C>T (p.Ser742=)
c.1893C>T (p.Ser631=)
 ClinVar
7g.117592304A=CA1737394848CFTRc.2137A= (p.Ile713=)
c.*1851A= (n.*1851A=)
c.1954A= (p.Ile652=)
c.*437A= (n.*437A=)
c.*1961A= (n.*1961A=)
c.1711A= (p.Ile571=)
c.1402-10522A= (n.1402-10522A=)
c.2047A= (p.Ile683=)
c.2227A= (p.Ile743=)
c.1894A= (p.Ile632=)
7g.117592304A>CCA368979956CFTRc.2137A>C (p.Ile713Leu)
c.*1851A>C (n.*1851A>C)
c.1954A>C (p.Ile652Leu)
c.*437A>C (n.*437A>C)
c.*1961A>C (n.*1961A>C)
c.1711A>C (p.Ile571Leu)
c.1402-10522A>C (n.1402-10522A>C)
c.2047A>C (p.Ile683Leu)
c.2227A>C (p.Ile743Leu)
c.1894A>C (p.Ile632Leu)
7g.117592304A>GCA368979959CFTRc.2137A>G (p.Ile713Val)
c.*1851A>G (n.*1851A>G)
c.1954A>G (p.Ile652Val)
c.*437A>G (n.*437A>G)
c.*1961A>G (n.*1961A>G)
c.1711A>G (p.Ile571Val)
c.1402-10522A>G (n.1402-10522A>G)
c.2047A>G (p.Ile683Val)
c.2227A>G (p.Ile743Val)
c.1894A>G (p.Ile632Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117592304A>TCA368979962CFTRc.2137A>T (p.Ile713Phe)
c.*1851A>T (n.*1851A>T)
c.1954A>T (p.Ile652Phe)
c.*437A>T (n.*437A>T)
c.*1961A>T (n.*1961A>T)
c.1711A>T (p.Ile571Phe)
c.1402-10522A>T (n.1402-10522A>T)
c.2047A>T (p.Ile683Phe)
c.2227A>T (p.Ile743Phe)
c.1894A>T (p.Ile632Phe)
7g.117592305T>ACA368979964CFTRc.2138T>A (p.Ile713Asn)
c.*1852T>A (n.*1852T>A)
c.1955T>A (p.Ile652Asn)
c.*438T>A (n.*438T>A)
c.*1962T>A (n.*1962T>A)
c.1712T>A (p.Ile571Asn)
c.1402-10521T>A (n.1402-10521T>A)
c.2048T>A (p.Ile683Asn)
c.2228T>A (p.Ile743Asn)
c.1895T>A (p.Ile632Asn)
7g.117592305T>CCA368979965CFTRc.2138T>C (p.Ile713Thr)
c.*1852T>C (n.*1852T>C)
c.1955T>C (p.Ile652Thr)
c.*438T>C (n.*438T>C)
c.*1962T>C (n.*1962T>C)
c.1712T>C (p.Ile571Thr)
c.1402-10521T>C (n.1402-10521T>C)
c.2048T>C (p.Ile683Thr)
c.2228T>C (p.Ile743Thr)
c.1895T>C (p.Ile632Thr)
7g.117592305T>GCA368979966CFTRc.2138T>G (p.Ile713Ser)
c.*1852T>G (n.*1852T>G)
c.1955T>G (p.Ile652Ser)
c.*438T>G (n.*438T>G)
c.*1962T>G (n.*1962T>G)
c.1712T>G (p.Ile571Ser)
c.1402-10521T>G (n.1402-10521T>G)
c.2048T>G (p.Ile683Ser)
c.2228T>G (p.Ile743Ser)
c.1895T>G (p.Ile632Ser)
7g.117592306T>ACA4451145CFTRc.2139T>A (p.Ile713=)
c.*1853T>A (n.*1853T>A)
c.1956T>A (p.Ile652=)
c.*439T>A (n.*439T>A)
c.*1963T>A (n.*1963T>A)
c.1713T>A (p.Ile571=)
c.1402-10520T>A (n.1402-10520T>A)
c.2049T>A (p.Ile683=)
c.2229T>A (p.Ile743=)
c.1896T>A (p.Ile632=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592306T>CCA457449376CFTRc.2139T>C (p.Ile713=)
c.*1853T>C (n.*1853T>C)
c.1956T>C (p.Ile652=)
c.*439T>C (n.*439T>C)
c.*1963T>C (n.*1963T>C)
c.1713T>C (p.Ile571=)
c.1402-10520T>C (n.1402-10520T>C)
c.2049T>C (p.Ile683=)
c.2229T>C (p.Ile743=)
c.1896T>C (p.Ile632=)
 ClinVar dbSNP
7g.117592306T>GCA368979973CFTRc.2139T>G (p.Ile713Met)
c.*1853T>G (n.*1853T>G)
c.1956T>G (p.Ile652Met)
c.*439T>G (n.*439T>G)
c.*1963T>G (n.*1963T>G)
c.1713T>G (p.Ile571Met)
c.1402-10520T>G (n.1402-10520T>G)
c.2049T>G (p.Ile683Met)
c.2229T>G (p.Ile743Met)
c.1896T>G (p.Ile632Met)
7g.117592306T=CA1737394856CFTRc.2139T= (p.Ile713=)
c.*1853T= (n.*1853T=)
c.1956T= (p.Ile652=)
c.*439T= (n.*439T=)
c.*1963T= (n.*1963T=)
c.1713T= (p.Ile571=)
c.1402-10520T= (n.1402-10520T=)
c.2049T= (p.Ile683=)
c.2229T= (p.Ile743=)
c.1896T= (p.Ile632=)
7g.117592307G>ACA368979987CFTRc.2140G>A (p.Val714Met)
c.*1854G>A (n.*1854G>A)
c.1957G>A (p.Val653Met)
c.*440G>A (n.*440G>A)
c.*1964G>A (n.*1964G>A)
c.1714G>A (p.Val572Met)
c.1402-10519G>A (n.1402-10519G>A)
c.2050G>A (p.Val684Met)
c.2230G>A (p.Val744Met)
c.1897G>A (p.Val633Met)
 gnomAD v4
7g.117592307G>CCA368979979CFTRc.2140G>C (p.Val714Leu)
c.*1854G>C (n.*1854G>C)
c.1957G>C (p.Val653Leu)
c.*440G>C (n.*440G>C)
c.*1964G>C (n.*1964G>C)
c.1714G>C (p.Val572Leu)
c.1402-10519G>C (n.1402-10519G>C)
c.2050G>C (p.Val684Leu)
c.2230G>C (p.Val744Leu)
c.1897G>C (p.Val633Leu)
7g.117592307G=CA1737394859CFTRc.2140G= (p.Val714=)
c.*1854G= (n.*1854G=)
c.1957G= (p.Val653=)
c.*440G= (n.*440G=)
c.*1964G= (n.*1964G=)
c.1714G= (p.Val572=)
c.1402-10519G= (n.1402-10519G=)
c.2050G= (p.Val684=)
c.2230G= (p.Val744=)
c.1897G= (p.Val633=)
7g.117592307G>TCA4451146CFTRc.2140G>T (p.Val714Leu)
c.*1854G>T (n.*1854G>T)
c.1957G>T (p.Val653Leu)
c.*440G>T (n.*440G>T)
c.*1964G>T (n.*1964G>T)
c.1714G>T (p.Val572Leu)
c.1402-10519G>T (n.1402-10519G>T)
c.2050G>T (p.Val684Leu)
c.2230G>T (p.Val744Leu)
c.1897G>T (p.Val633Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592308T>ACA368979991CFTRc.2141T>A (p.Val714Glu)
c.*1855T>A (n.*1855T>A)
c.1958T>A (p.Val653Glu)
c.*441T>A (n.*441T>A)
c.*1965T>A (n.*1965T>A)
c.1715T>A (p.Val572Glu)
c.1402-10518T>A (n.1402-10518T>A)
c.2051T>A (p.Val684Glu)
c.2231T>A (p.Val744Glu)
c.1898T>A (p.Val633Glu)
7g.117592308T>CCA368979996CFTRc.2141T>C (p.Val714Ala)
c.*1855T>C (n.*1855T>C)
c.1958T>C (p.Val653Ala)
c.*441T>C (n.*441T>C)
c.*1965T>C (n.*1965T>C)
c.1715T>C (p.Val572Ala)
c.1402-10518T>C (n.1402-10518T>C)
c.2051T>C (p.Val684Ala)
c.2231T>C (p.Val744Ala)
c.1898T>C (p.Val633Ala)
 gnomAD v4
7g.117592308T>GCA368979993CFTRc.2141T>G (p.Val714Gly)
c.*1855T>G (n.*1855T>G)
c.1958T>G (p.Val653Gly)
c.*441T>G (n.*441T>G)
c.*1965T>G (n.*1965T>G)
c.1715T>G (p.Val572Gly)
c.1402-10518T>G (n.1402-10518T>G)
c.2051T>G (p.Val684Gly)
c.2231T>G (p.Val744Gly)
c.1898T>G (p.Val633Gly)
7g.117592309G>ACA457449377CFTRc.2142G>A (p.Val714=)
c.*1856G>A (n.*1856G>A)
c.1959G>A (p.Val653=)
c.*442G>A (n.*442G>A)
c.*1966G>A (n.*1966G>A)
c.1716G>A (p.Val572=)
c.1402-10517G>A (n.1402-10517G>A)
c.2052G>A (p.Val684=)
c.2232G>A (p.Val744=)
c.1899G>A (p.Val633=)
7g.117592309G>CCA457449378CFTRc.2142G>C (p.Val714=)
c.*1856G>C (n.*1856G>C)
c.1959G>C (p.Val653=)
c.*442G>C (n.*442G>C)
c.*1966G>C (n.*1966G>C)
c.1716G>C (p.Val572=)
c.1402-10517G>C (n.1402-10517G>C)
c.2052G>C (p.Val684=)
c.2232G>C (p.Val744=)
c.1899G>C (p.Val633=)
7g.117592309G=CA1737394863CFTRc.2142G= (p.Val714=)
c.*1856G= (n.*1856G=)
c.1959G= (p.Val653=)
c.*442G= (n.*442G=)
c.*1966G= (n.*1966G=)
c.1716G= (p.Val572=)
c.1402-10517G= (n.1402-10517G=)
c.2052G= (p.Val684=)
c.2232G= (p.Val744=)
c.1899G= (p.Val633=)
7g.117592309G>TCA457449379CFTRc.2142G>T (p.Val714=)
c.*1856G>T (n.*1856G>T)
c.1959G>T (p.Val653=)
c.*442G>T (n.*442G>T)
c.*1966G>T (n.*1966G>T)
c.1716G>T (p.Val572=)
c.1402-10517G>T (n.1402-10517G>T)
c.2052G>T (p.Val684=)
c.2232G>T (p.Val744=)
c.1899G>T (p.Val633=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117592310C>ACA368980000CFTRc.2143C>A (p.Gln715Lys)
c.*1857C>A (n.*1857C>A)
c.1960C>A (p.Gln654Lys)
c.*443C>A (n.*443C>A)
c.*1967C>A (n.*1967C>A)
c.1717C>A (p.Gln573Lys)
c.1402-10516C>A (n.1402-10516C>A)
c.2053C>A (p.Gln685Lys)
c.2233C>A (p.Gln745Lys)
c.1900C>A (p.Gln634Lys)
7g.117592310C=CA1737394868CFTRc.2143C= (p.Gln715=)
c.*1857C= (n.*1857C=)
c.1960C= (p.Gln654=)
c.*443C= (n.*443C=)
c.*1967C= (n.*1967C=)
c.1717C= (p.Gln573=)
c.1402-10516C= (n.1402-10516C=)
c.2053C= (p.Gln685=)
c.2233C= (p.Gln745=)
c.1900C= (p.Gln634=)
7g.117592310C>GCA368980001CFTRc.2143C>G (p.Gln715Glu)
c.*1857C>G (n.*1857C>G)
c.1960C>G (p.Gln654Glu)
c.*443C>G (n.*443C>G)
c.*1967C>G (n.*1967C>G)
c.1717C>G (p.Gln573Glu)
c.1402-10516C>G (n.1402-10516C>G)
c.2053C>G (p.Gln685Glu)
c.2233C>G (p.Gln745Glu)
c.1900C>G (p.Gln634Glu)
 ClinVar
7g.117592310C>TCA326751CFTRc.2143C>T (p.Gln715Ter)
c.*1857C>T (n.*1857C>T)
c.1960C>T (p.Gln654Ter)
c.*443C>T (n.*443C>T)
c.*1967C>T (n.*1967C>T)
c.1717C>T (p.Gln573Ter)
c.1402-10516C>T (n.1402-10516C>T)
c.2053C>T (p.Gln685Ter)
c.2233C>T (p.Gln745Ter)
c.1900C>T (p.Gln634Ter)
 ClinVar dbSNP gnomAD v4
7g.117592311A>CCA368980003CFTRc.2144A>C (p.Gln715Pro)
c.*1858A>C (n.*1858A>C)
c.1961A>C (p.Gln654Pro)
c.*444A>C (n.*444A>C)
c.*1968A>C (n.*1968A>C)
c.1718A>C (p.Gln573Pro)
c.1402-10515A>C (n.1402-10515A>C)
c.2054A>C (p.Gln685Pro)
c.2234A>C (p.Gln745Pro)
c.1901A>C (p.Gln634Pro)
7g.117592311A>GCA368980004CFTRc.2144A>G (p.Gln715Arg)
c.*1858A>G (n.*1858A>G)
c.1961A>G (p.Gln654Arg)
c.*444A>G (n.*444A>G)
c.*1968A>G (n.*1968A>G)
c.1718A>G (p.Gln573Arg)
c.1402-10515A>G (n.1402-10515A>G)
c.2054A>G (p.Gln685Arg)
c.2234A>G (p.Gln745Arg)
c.1901A>G (p.Gln634Arg)
7g.117592311A>TCA368980005CFTRc.2144A>T (p.Gln715Leu)
c.*1858A>T (n.*1858A>T)
c.1961A>T (p.Gln654Leu)
c.*444A>T (n.*444A>T)
c.*1968A>T (n.*1968A>T)
c.1718A>T (p.Gln573Leu)
c.1402-10515A>T (n.1402-10515A>T)
c.2054A>T (p.Gln685Leu)
c.2234A>T (p.Gln745Leu)
c.1901A>T (p.Gln634Leu)
7g.117592312A=CA1737394880CFTRc.2145A= (p.Gln715=)
c.*1859A= (n.*1859A=)
c.1962A= (p.Gln654=)
c.*445A= (n.*445A=)
c.*1969A= (n.*1969A=)
c.1719A= (p.Gln573=)
c.1402-10514A= (n.1402-10514A=)
c.2055A= (p.Gln685=)
c.2235A= (p.Gln745=)
c.1902A= (p.Gln634=)
7g.117592312A>CCA4451147CFTRc.2145A>C (p.Gln715His)
c.*1859A>C (n.*1859A>C)
c.1962A>C (p.Gln654His)
c.*445A>C (n.*445A>C)
c.*1969A>C (n.*1969A>C)
c.1719A>C (p.Gln573His)
c.1402-10514A>C (n.1402-10514A>C)
c.2055A>C (p.Gln685His)
c.2235A>C (p.Gln745His)
c.1902A>C (p.Gln634His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592312A>GCA457449380CFTRc.2145A>G (p.Gln715=)
c.*1859A>G (n.*1859A>G)
c.1962A>G (p.Gln654=)
c.*445A>G (n.*445A>G)
c.*1969A>G (n.*1969A>G)
c.1719A>G (p.Gln573=)
c.1402-10514A>G (n.1402-10514A>G)
c.2055A>G (p.Gln685=)
c.2235A>G (p.Gln745=)
c.1902A>G (p.Gln634=)
 ClinVar
7g.117592312A>TCA368980010CFTRc.2145A>T (p.Gln715His)
c.*1859A>T (n.*1859A>T)
c.1962A>T (p.Gln654His)
c.*445A>T (n.*445A>T)
c.*1969A>T (n.*1969A>T)
c.1719A>T (p.Gln573His)
c.1402-10514A>T (n.1402-10514A>T)
c.2055A>T (p.Gln685His)
c.2235A>T (p.Gln745His)
c.1902A>T (p.Gln634His)
7g.117592312_117592313delinsAACA1737394876CFTRc.2145_2146delinsAA (p.Gln715=)
c.*1859_*1860delinsAA (n.*1859_*1860delinsAA)
c.1962_1963delinsAA (p.Gln654=)
c.*445_*446delinsAA (n.*445_*446delinsAA)
c.*1969_*1970delinsAA (n.*1969_*1970delinsAA)
c.1719_1720delinsAA (p.Gln573=)
c.1402-10514_1402-10513delinsAA (n.1402-10514_1402-10513delinsAA)
c.2055_2056delinsAA (p.Gln685=)
c.2235_2236delinsAA (p.Gln745=)
c.1902_1903delinsAA (p.Gln634=)
7g.117592312_117592313delinsGTCA326753CFTRc.2145_2146delinsGT (p.Gln716Ter)
c.*1859_*1860delinsGT (n.*1859_*1860delinsGT)
c.1962_1963delinsGT (p.Gln655Ter)
c.*445_*446delinsGT (n.*445_*446delinsGT)
c.*1969_*1970delinsGT (n.*1969_*1970delinsGT)
c.1719_1720delinsGT (p.Gln574Ter)
c.1402-10514_1402-10513delinsGT (n.1402-10514_1402-10513delinsGT)
c.2055_2056delinsGT (p.Gln686Ter)
c.2235_2236delinsGT (p.Gln746Ter)
c.1902_1903delinsGT (p.Gln635Ter)
 ClinVar dbSNP
7g.117592313A=CA1737394887CFTRc.2146A= (p.Lys716=)
c.*1860A= (n.*1860A=)
c.1963A= (p.Lys655=)
c.*446A= (n.*446A=)
c.*1970A= (n.*1970A=)
c.1720A= (p.Lys574=)
c.1402-10513A= (n.1402-10513A=)
c.2056A= (p.Lys686=)
c.2236A= (p.Lys746=)
c.1903A= (p.Lys635=)
7g.117592313A>CCA368980011CFTRc.2146A>C (p.Lys716Gln)
c.*1860A>C (n.*1860A>C)
c.1963A>C (p.Lys655Gln)
c.*446A>C (n.*446A>C)
c.*1970A>C (n.*1970A>C)
c.1720A>C (p.Lys574Gln)
c.1402-10513A>C (n.1402-10513A>C)
c.2056A>C (p.Lys686Gln)
c.2236A>C (p.Lys746Gln)
c.1903A>C (p.Lys635Gln)
7g.117592313A>GCA368980012CFTRc.2146A>G (p.Lys716Glu)
c.*1860A>G (n.*1860A>G)
c.1963A>G (p.Lys655Glu)
c.*446A>G (n.*446A>G)
c.*1970A>G (n.*1970A>G)
c.1720A>G (p.Lys574Glu)
c.1402-10513A>G (n.1402-10513A>G)
c.2056A>G (p.Lys686Glu)
c.2236A>G (p.Lys746Glu)
c.1903A>G (p.Lys635Glu)
7g.117592313A>TCA254113CFTRc.2146A>T (p.Lys716Ter)
c.*1860A>T (n.*1860A>T)
c.1963A>T (p.Lys655Ter)
c.*446A>T (n.*446A>T)
c.*1970A>T (n.*1970A>T)
c.1720A>T (p.Lys574Ter)
c.1402-10513A>T (n.1402-10513A>T)
c.2056A>T (p.Lys686Ter)
c.2236A>T (p.Lys746Ter)
c.1903A>T (p.Lys635Ter)
 ClinVar dbSNP
7g.117592313_117592314insTTTCCATTGTGCCA2573141690CFTRc.2146_2147insTTTCCATTGTGC (p.Lys716delinsIleSerIleValGln)
c.*1860_*1861insTTTCCATTGTGC (n.*1860_*1861insTTTCCATTGTGC)
c.1963_1964insTTTCCATTGTGC (p.Lys655delinsIleSerIleValGln)
c.*446_*447insTTTCCATTGTGC (n.*446_*447insTTTCCATTGTGC)
c.*1970_*1971insTTTCCATTGTGC (n.*1970_*1971insTTTCCATTGTGC)
c.1720_1721insTTTCCATTGTGC (p.Lys574delinsIleSerIleValGln)
c.1402-10513_1402-10512insTTTCCATTGTGC (n.1402-10513_1402-10512insTTTCCATTGTGC)
c.2056_2057insTTTCCATTGTGC (p.Lys686delinsIleSerIleValGln)
c.2236_2237insTTTCCATTGTGC (p.Lys746delinsIleSerIleValGln)
c.1903_1904insTTTCCATTGTGC (p.Lys635delinsIleSerIleValGln)
 ClinVar dbSNP
7g.117592314A>CCA368980019CFTRc.2147A>C (p.Lys716Thr)
c.*1861A>C (n.*1861A>C)
c.1964A>C (p.Lys655Thr)
c.*447A>C (n.*447A>C)
c.*1971A>C (n.*1971A>C)
c.1721A>C (p.Lys574Thr)
c.1402-10512A>C (n.1402-10512A>C)
c.2057A>C (p.Lys686Thr)
c.2237A>C (p.Lys746Thr)
c.1904A>C (p.Lys635Thr)
7g.117592314A>GCA368980017CFTRc.2147A>G (p.Lys716Arg)
c.*1861A>G (n.*1861A>G)
c.1964A>G (p.Lys655Arg)
c.*447A>G (n.*447A>G)
c.*1971A>G (n.*1971A>G)
c.1721A>G (p.Lys574Arg)
c.1402-10512A>G (n.1402-10512A>G)
c.2057A>G (p.Lys686Arg)
c.2237A>G (p.Lys746Arg)
c.1904A>G (p.Lys635Arg)
7g.117592314A>TCA368980018CFTRc.2147A>T (p.Lys716Met)
c.*1861A>T (n.*1861A>T)
c.1964A>T (p.Lys655Met)
c.*447A>T (n.*447A>T)
c.*1971A>T (n.*1971A>T)
c.1721A>T (p.Lys574Met)
c.1402-10512A>T (n.1402-10512A>T)
c.2057A>T (p.Lys686Met)
c.2237A>T (p.Lys746Met)
c.1904A>T (p.Lys635Met)
7g.117592315G>ACA457449381CFTRc.2148G>A (p.Lys716=)
c.*1862G>A (n.*1862G>A)
c.1965G>A (p.Lys655=)
c.*448G>A (n.*448G>A)
c.*1972G>A (n.*1972G>A)
c.1722G>A (p.Lys574=)
c.1402-10511G>A (n.1402-10511G>A)
c.2058G>A (p.Lys686=)
c.2238G>A (p.Lys746=)
c.1905G>A (p.Lys635=)
 ClinVar dbSNP
7g.117592315G>CCA368980020CFTRc.2148G>C (p.Lys716Asn)
c.*1862G>C (n.*1862G>C)
c.1965G>C (p.Lys655Asn)
c.*448G>C (n.*448G>C)
c.*1972G>C (n.*1972G>C)
c.1722G>C (p.Lys574Asn)
c.1402-10511G>C (n.1402-10511G>C)
c.2058G>C (p.Lys686Asn)
c.2238G>C (p.Lys746Asn)
c.1905G>C (p.Lys635Asn)
7g.117592315G>TCA368980021CFTRc.2148G>T (p.Lys716Asn)
c.*1862G>T (n.*1862G>T)
c.1965G>T (p.Lys655Asn)
c.*448G>T (n.*448G>T)
c.*1972G>T (n.*1972G>T)
c.1722G>T (p.Lys574Asn)
c.1402-10511G>T (n.1402-10511G>T)
c.2058G>T (p.Lys686Asn)
c.2238G>T (p.Lys746Asn)
c.1905G>T (p.Lys635Asn)
 COSMIC

Number of alleles fetched