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.117592212_117592214delinsCAACA1737394575CFTRc.2045_2047delinsCAA (p.Thr682=)
c.*1759_*1761delinsCAA (n.*1759_*1761delinsCAA)
c.1862_1864delinsCAA (p.Thr621=)
c.*345_*347delinsCAA (n.*345_*347delinsCAA)
c.*1869_*1871delinsCAA (n.*1869_*1871delinsCAA)
c.1619_1621delinsCAA (p.Thr540=)
c.1402-10614_1402-10612delinsCAA (n.1402-10614_1402-10612delinsCAA)
c.1955_1957delinsCAA (p.Thr652=)
c.2135_2137delinsCAA (p.Thr712=)
c.1802_1804delinsCAA (p.Thr601=)
7g.117592213A>CCA457449018CFTRc.2046A>C (p.Thr682=)
c.*1760A>C (n.*1760A>C)
c.1863A>C (p.Thr621=)
c.*346A>C (n.*346A>C)
c.*1870A>C (n.*1870A>C)
c.1620A>C (p.Thr540=)
c.1402-10613A>C (n.1402-10613A>C)
c.1956A>C (p.Thr652=)
c.2136A>C (p.Thr712=)
c.1803A>C (p.Thr601=)
7g.117592213A>GCA457449019CFTRc.2046A>G (p.Thr682=)
c.*1760A>G (n.*1760A>G)
c.1863A>G (p.Thr621=)
c.*346A>G (n.*346A>G)
c.*1870A>G (n.*1870A>G)
c.1620A>G (p.Thr540=)
c.1402-10613A>G (n.1402-10613A>G)
c.1956A>G (p.Thr652=)
c.2136A>G (p.Thr712=)
c.1803A>G (p.Thr601=)
ClinVar dbSNP
7g.117592213A>TCA457449020CFTRc.2046A>T (p.Thr682=)
c.*1760A>T (n.*1760A>T)
c.1863A>T (p.Thr621=)
c.*346A>T (n.*346A>T)
c.*1870A>T (n.*1870A>T)
c.1620A>T (p.Thr540=)
c.1402-10613A>T (n.1402-10613A>T)
c.1956A>T (p.Thr652=)
c.2136A>T (p.Thr712=)
c.1803A>T (p.Thr601=)
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.117592214A>CCA368979407CFTRc.2047A>C (p.Lys683Gln)
c.*1761A>C (n.*1761A>C)
c.1864A>C (p.Lys622Gln)
c.*347A>C (n.*347A>C)
c.*1871A>C (n.*1871A>C)
c.1621A>C (p.Lys541Gln)
c.1402-10612A>C (n.1402-10612A>C)
c.1957A>C (p.Lys653Gln)
c.2137A>C (p.Lys713Gln)
c.1804A>C (p.Lys602Gln)
7g.117592214A>GCA368979409CFTRc.2047A>G (p.Lys683Glu)
c.*1761A>G (n.*1761A>G)
c.1864A>G (p.Lys622Glu)
c.*347A>G (n.*347A>G)
c.*1871A>G (n.*1871A>G)
c.1621A>G (p.Lys541Glu)
c.1402-10612A>G (n.1402-10612A>G)
c.1957A>G (p.Lys653Glu)
c.2137A>G (p.Lys713Glu)
c.1804A>G (p.Lys602Glu)
7g.117592214A>TCA368979411CFTRc.2047A>T (p.Lys683Ter)
c.*1761A>T (n.*1761A>T)
c.1864A>T (p.Lys622Ter)
c.*347A>T (n.*347A>T)
c.*1871A>T (n.*1871A>T)
c.1621A>T (p.Lys541Ter)
c.1402-10612A>T (n.1402-10612A>T)
c.1957A>T (p.Lys653Ter)
c.2137A>T (p.Lys713Ter)
c.1804A>T (p.Lys602Ter)
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

Number of alleles fetched