Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.117592211dupCA915945425CFTRc.2044dup (p.Thr682AsnfsTer7)
c.*1758dup (p.=)
c.1402-10615dup (p.=)
c.1861dup (p.Thr621AsnfsTer7)
n.1861dup (p.Thr621AsnfsTer7)
n.1954dup (p.Thr652AsnfsTer7)
c.2134dup (p.Thr712AsnfsTer7)
c.1801dup (p.Thr601AsnfsTer7)
ClinVar dbSNP
7g.117592211delCA658822499CFTRc.2044del (p.Thr682GlnfsTer?)
c.*1758del (p.=)
c.1402-10615del (p.=)
c.1861del (p.Thr621GlnfsTer?)
n.1861del (p.Thr621GlnfsTer?)
n.1954del (p.Thr652GlnfsTer?)
c.2134del (p.Thr712GlnfsTer?)
c.1801del (p.Thr601GlnfsTer?)
ClinVar dbSNP
7g.117592215_117592222dupCA1106305610CFTRc.2048_2055dup (p.Ser686LysfsTer?)
c.*1762_*1769dup (p.=)
c.1402-10611_1402-10604dup (p.=)
c.1865_1872dup (p.Ser625LysfsTer?)
n.1865_1872dup (p.Ser625LysfsTer?)
n.1958_1965dup (p.Ser656LysfsTer?)
c.2138_2145dup (p.Ser716LysfsTer?)
c.1805_1812dup (p.Ser605LysfsTer?)
dbSNP
7g.117592210A>CCA368979375CFTRc.2043A>C (p.Glu681Asp)
c.*1757A>C (p.=)
c.1402-10616A>C (p.=)
c.1860A>C (p.Glu620Asp)
n.1860A>C (p.Glu620Asp)
n.1953A>C (p.Glu651Asp)
c.2133A>C (p.Glu711Asp)
c.1800A>C (p.Glu600Asp)
7g.117592210A>GCA457449017CFTRc.2043A>G (p.Glu681=)
c.*1757A>G (p.=)
c.1402-10616A>G (p.=)
c.1860A>G (p.Glu620=)
n.1860A>G (p.Glu620=)
n.1953A>G (p.Glu651=)
c.2133A>G (p.Glu711=)
c.1800A>G (p.Glu600=)
7g.117592210A>TCA368979377CFTRc.2043A>T (p.Glu681Asp)
c.*1757A>T (p.=)
c.1402-10616A>T (p.=)
c.1860A>T (p.Glu620Asp)
n.1860A>T (p.Glu620Asp)
n.1953A>T (p.Glu651Asp)
c.2133A>T (p.Glu711Asp)
c.1800A>T (p.Glu600Asp)
7g.117592211A=CA1737394560CFTRc.2044A= (p.Thr682=)
c.*1758A= (p.=)
c.1402-10615A= (p.=)
c.1861A= (p.Thr621=)
n.1861A= (p.Thr621=)
n.1954A= (p.Thr652=)
c.2134A= (p.Thr712=)
c.1801A= (p.Thr601=)
7g.117592211A>CCA368979380CFTRc.2044A>C (p.Thr682Pro)
c.*1758A>C (p.=)
c.1402-10615A>C (p.=)
c.1861A>C (p.Thr621Pro)
n.1861A>C (p.Thr621Pro)
n.1954A>C (p.Thr652Pro)
c.2134A>C (p.Thr712Pro)
c.1801A>C (p.Thr601Pro)
7g.117592211A>GCA368979383CFTRc.2044A>G (p.Thr682Ala)
c.*1758A>G (p.=)
c.1402-10615A>G (p.=)
c.1861A>G (p.Thr621Ala)
n.1861A>G (p.Thr621Ala)
n.1954A>G (p.Thr652Ala)
c.2134A>G (p.Thr712Ala)
c.1801A>G (p.Thr601Ala)
7g.117592211A>TCA368979386CFTRc.2044A>T (p.Thr682Ser)
c.*1758A>T (p.=)
c.1402-10615A>T (p.=)
c.1861A>T (p.Thr621Ser)
n.1861A>T (p.Thr621Ser)
n.1954A>T (p.Thr652Ser)
c.2134A>T (p.Thr712Ser)
c.1801A>T (p.Thr601Ser)
7g.117592211_117592212delinsACCA1737394561CFTRc.2044_2045delinsAC (p.Thr682=)
c.*1758_*1759delinsAC (p.=)
c.1402-10615_1402-10614delinsAC (p.=)
c.1861_1862delinsAC (p.Thr621=)
n.1861_1862delinsAC (p.Thr621=)
n.1954_1955delinsAC (p.Thr652=)
c.2134_2135delinsAC (p.Thr712=)
c.1801_1802delinsAC (p.Thr601=)
7g.117592212delCA915945426CFTRc.2045del (p.Thr682LysfsTer?)
c.*1759del (p.=)
c.1402-10614del (p.=)
c.1862del (p.Thr621LysfsTer?)
n.1862del (p.Thr621LysfsTer?)
n.1955del (p.Thr652LysfsTer?)
c.2135del (p.Thr712LysfsTer?)
c.1802del (p.Thr601LysfsTer?)
ClinVar dbSNP
7g.117592212C>ACA368979389CFTRc.2045C>A (p.Thr682Lys)
c.*1759C>A (p.=)
c.1402-10614C>A (p.=)
c.1862C>A (p.Thr621Lys)
n.1862C>A (p.Thr621Lys)
n.1955C>A (p.Thr652Lys)
c.2135C>A (p.Thr712Lys)
c.1802C>A (p.Thr601Lys)
7g.117592212C>GCA368979394CFTRc.2045C>G (p.Thr682Arg)
c.*1759C>G (p.=)
c.1402-10614C>G (p.=)
c.1862C>G (p.Thr621Arg)
n.1862C>G (p.Thr621Arg)
n.1955C>G (p.Thr652Arg)
c.2135C>G (p.Thr712Arg)
c.1802C>G (p.Thr601Arg)
7g.117592212C>TCA368979392CFTRc.2045C>T (p.Thr682Ile)
c.*1759C>T (p.=)
c.1402-10614C>T (p.=)
c.1862C>T (p.Thr621Ile)
n.1862C>T (p.Thr621Ile)
n.1955C>T (p.Thr652Ile)
c.2135C>T (p.Thr712Ile)
c.1802C>T (p.Thr601Ile)
7g.117592212dupCA326736CFTRc.2045dup (p.Gln685ThrfsTer4)
c.*1759dup (p.=)
c.1402-10614dup (p.=)
c.1862dup (p.Gln624ThrfsTer4)
n.1862dup (p.Gln624ThrfsTer4)
n.1955dup (p.Gln655ThrfsTer4)
c.2135dup (p.Gln715ThrfsTer4)
c.1802dup (p.Gln604ThrfsTer4)
ClinVar dbSNP
7g.117592212_117592214delinsCAACA1737394575CFTRc.2045_2047delinsCAA (p.Thr682=)
c.*1759_*1761delinsCAA (p.=)
c.1402-10614_1402-10612delinsCAA (p.=)
c.1862_1864delinsCAA (p.Thr621=)
n.1862_1864delinsCAA (p.Thr621=)
n.1955_1957delinsCAA (p.Thr652=)
c.2135_2137delinsCAA (p.Thr712=)
c.1802_1804delinsCAA (p.Thr601=)
7g.117592213A>CCA457449018CFTRc.2046A>C (p.Thr682=)
c.*1760A>C (p.=)
c.1402-10613A>C (p.=)
c.1863A>C (p.Thr621=)
n.1863A>C (p.Thr621=)
n.1956A>C (p.Thr652=)
c.2136A>C (p.Thr712=)
c.1803A>C (p.Thr601=)
7g.117592213A>GCA457449019CFTRc.2046A>G (p.Thr682=)
c.*1760A>G (p.=)
c.1402-10613A>G (p.=)
c.1863A>G (p.Thr621=)
n.1863A>G (p.Thr621=)
n.1956A>G (p.Thr652=)
c.2136A>G (p.Thr712=)
c.1803A>G (p.Thr601=)
7g.117592213A>TCA457449020CFTRc.2046A>T (p.Thr682=)
c.*1760A>T (p.=)
c.1402-10613A>T (p.=)
c.1863A>T (p.Thr621=)
n.1863A>T (p.Thr621=)
n.1956A>T (p.Thr652=)
c.2136A>T (p.Thr712=)
c.1803A>T (p.Thr601=)
7g.117592219dupCA233699CFTRc.2052dup (p.Gln685ThrfsTer4)
c.*1766dup (p.=)
c.1402-10607dup (p.=)
c.1869dup (p.Gln624ThrfsTer4)
n.1869dup (p.Gln624ThrfsTer4)
n.1962dup (p.Gln655ThrfsTer4)
c.2142dup (p.Gln715ThrfsTer4)
c.1809dup (p.Gln604ThrfsTer4)
ClinVar dbSNP dbSNP dbSNP ExAC gnomAD
7g.117592218_117592219dupCA913190194CFTRc.2051_2052dup (p.Gln685AsnfsTer?)
c.*1765_*1766dup (p.=)
c.1402-10608_1402-10607dup (p.=)
c.1868_1869dup (p.Gln624AsnfsTer?)
n.1868_1869dup (p.Gln624AsnfsTer?)
n.1961_1962dup (p.Gln655AsnfsTer?)
c.2141_2142dup (p.Gln715AsnfsTer?)
c.1808_1809dup (p.Gln604AsnfsTer?)
ClinVar dbSNP
7g.117592219delCA344706CFTRc.2052del (p.Lys684AsnfsTer?)
c.*1766del (p.=)
c.1402-10607del (p.=)
c.1869del (p.Lys623AsnfsTer?)
n.1869del (p.Lys623AsnfsTer?)
n.1962del (p.Lys654AsnfsTer?)
c.2142del (p.Lys714AsnfsTer?)
c.1809del (p.Lys603AsnfsTer?)
ClinVar dbSNP ExAC gnomAD
7g.117592218_117592219delCA326739CFTRc.2051_2052del (p.Lys684ThrfsTer4)
c.*1765_*1766del (p.=)
c.1402-10608_1402-10607del (p.=)
c.1868_1869del (p.Lys623ThrfsTer4)
n.1868_1869del (p.Lys623ThrfsTer4)
n.1961_1962del (p.Lys654ThrfsTer4)
c.2141_2142del (p.Lys714ThrfsTer4)
c.1808_1809del (p.Lys603ThrfsTer4)
ClinVar dbSNP dbSNP
7g.117592214A>CCA368979407CFTRc.2047A>C (p.Lys683Gln)
c.*1761A>C (p.=)
c.1402-10612A>C (p.=)
c.1864A>C (p.Lys622Gln)
n.1864A>C (p.Lys622Gln)
n.1957A>C (p.Lys653Gln)
c.2137A>C (p.Lys713Gln)
c.1804A>C (p.Lys602Gln)
7g.117592214A>GCA368979409CFTRc.2047A>G (p.Lys683Glu)
c.*1761A>G (p.=)
c.1402-10612A>G (p.=)
c.1864A>G (p.Lys622Glu)
n.1864A>G (p.Lys622Glu)
n.1957A>G (p.Lys653Glu)
c.2137A>G (p.Lys713Glu)
c.1804A>G (p.Lys602Glu)
7g.117592214A>TCA368979411CFTRc.2047A>T (p.Lys683Ter)
c.*1761A>T (p.=)
c.1402-10612A>T (p.=)
c.1864A>T (p.Lys622Ter)
n.1864A>T (p.Lys622Ter)
n.1957A>T (p.Lys653Ter)
c.2137A>T (p.Lys713Ter)
c.1804A>T (p.Lys602Ter)
7g.117592215A=CA1737394598CFTRc.2048A= (p.Lys683=)
c.*1762A= (p.=)
c.1402-10611A= (p.=)
c.1865A= (p.Lys622=)
n.1865A= (p.Lys622=)
n.1958A= (p.Lys653=)
c.2138A= (p.Lys713=)
c.1805A= (p.Lys602=)
7g.117592215A>CCA368979414CFTRc.2048A>C (p.Lys683Thr)
c.*1762A>C (p.=)
c.1402-10611A>C (p.=)
c.1865A>C (p.Lys622Thr)
n.1865A>C (p.Lys622Thr)
n.1958A>C (p.Lys653Thr)
c.2138A>C (p.Lys713Thr)
c.1805A>C (p.Lys602Thr)
7g.117592215A>GCA164947738CFTRc.2048A>G (p.Lys683Arg)
c.*1762A>G (p.=)
c.1402-10611A>G (p.=)
c.1865A>G (p.Lys622Arg)
n.1865A>G (p.Lys622Arg)
n.1958A>G (p.Lys653Arg)
c.2138A>G (p.Lys713Arg)
c.1805A>G (p.Lys602Arg)
dbSNP
7g.117592215A>TCA368979417CFTRc.2048A>T (p.Lys683Ile)
c.*1762A>T (p.=)
c.1402-10611A>T (p.=)
c.1865A>T (p.Lys622Ile)
n.1865A>T (p.Lys622Ile)
n.1958A>T (p.Lys653Ile)
c.2138A>T (p.Lys713Ile)
c.1805A>T (p.Lys602Ile)
7g.117592216A>CCA368979421CFTRc.2049A>C (p.Lys683Asn)
c.*1763A>C (p.=)
c.1402-10610A>C (p.=)
c.1866A>C (p.Lys622Asn)
n.1866A>C (p.Lys622Asn)
n.1959A>C (p.Lys653Asn)
c.2139A>C (p.Lys713Asn)
c.1806A>C (p.Lys602Asn)
7g.117592216A>GCA457449021CFTRc.2049A>G (p.Lys683=)
c.*1763A>G (p.=)
c.1402-10610A>G (p.=)
c.1866A>G (p.Lys622=)
n.1866A>G (p.Lys622=)
n.1959A>G (p.Lys653=)
c.2139A>G (p.Lys713=)
c.1806A>G (p.Lys602=)
7g.117592216A>TCA368979423CFTRc.2049A>T (p.Lys683Asn)
c.*1763A>T (p.=)
c.1402-10610A>T (p.=)
c.1866A>T (p.Lys622Asn)
n.1866A>T (p.Lys622Asn)
n.1959A>T (p.Lys653Asn)
c.2139A>T (p.Lys713Asn)
c.1806A>T (p.Lys602Asn)
7g.117592216_117592220delinsAAAACCA1737394602CFTRc.2049_2053delinsAAAAC (p.Lys683=)
c.*1763_*1767delinsAAAAC (p.=)
c.1402-10610_1402-10606delinsAAAAC (p.=)
c.1866_1870delinsAAAAC (p.Lys622=)
n.1866_1870delinsAAAAC (p.Lys622=)
n.1959_1963delinsAAAAC (p.Lys653=)
c.2139_2143delinsAAAAC (p.Lys713=)
c.1806_1810delinsAAAAC (p.Lys602=)
7g.117592217A>CCA368979433CFTRc.2050A>C (p.Lys684Gln)
c.*1764A>C (p.=)
c.1402-10609A>C (p.=)
c.1867A>C (p.Lys623Gln)
n.1867A>C (p.Lys623Gln)
n.1960A>C (p.Lys654Gln)
c.2140A>C (p.Lys714Gln)
c.1807A>C (p.Lys603Gln)
7g.117592217A>GCA368979432CFTRc.2050A>G (p.Lys684Glu)
c.*1764A>G (p.=)
c.1402-10609A>G (p.=)
c.1867A>G (p.Lys623Glu)
n.1867A>G (p.Lys623Glu)
n.1960A>G (p.Lys654Glu)
c.2140A>G (p.Lys714Glu)
c.1807A>G (p.Lys603Glu)
7g.117592217A>TCA368979427CFTRc.2050A>T (p.Lys684Ter)
c.*1764A>T (p.=)
c.1402-10609A>T (p.=)
c.1867A>T (p.Lys623Ter)
n.1867A>T (p.Lys623Ter)
n.1960A>T (p.Lys654Ter)
c.2140A>T (p.Lys714Ter)
c.1807A>T (p.Lys603Ter)
7g.117592217_117592219delinsAAACA1737394609CFTRc.2050_2052delinsAAA (p.Lys684=)
c.*1764_*1766delinsAAA (p.=)
c.1402-10609_1402-10607delinsAAA (p.=)
c.1867_1869delinsAAA (p.Lys623=)
n.1867_1869delinsAAA (p.Lys623=)
n.1960_1962delinsAAA (p.Lys654=)
c.2140_2142delinsAAA (p.Lys714=)
c.1807_1809delinsAAA (p.Lys603=)
7g.117592217_117592220delinsAAACCA1737394607CFTRc.2050_2053delinsAAAC (p.Lys684=)
c.*1764_*1767delinsAAAC (p.=)
c.1402-10609_1402-10606delinsAAAC (p.=)
c.1867_1870delinsAAAC (p.Lys623=)
n.1867_1870delinsAAAC (p.Lys623=)
n.1960_1963delinsAAAC (p.Lys654=)
c.2140_2143delinsAAAC (p.Lys714=)
c.1807_1810delinsAAAC (p.Lys603=)
7g.117592219_117592222delCA368979429CFTRc.2052_2055del (p.Lys684AsnfsTer?)
c.*1766_*1769del (p.=)
c.1402-10607_1402-10604del (p.=)
c.1869_1872del (p.Lys623AsnfsTer?)
n.1869_1872del (p.Lys623AsnfsTer?)
n.1962_1965del (p.Lys654AsnfsTer?)
c.2142_2145del (p.Lys714AsnfsTer?)
c.1809_1812del (p.Lys603AsnfsTer?)
dbSNP
7g.117592218A=CA1737394622CFTRc.2051A= (p.Lys684=)
c.*1765A= (p.=)
c.1402-10608A= (p.=)
c.1868A= (p.Lys623=)
n.1868A= (p.Lys623=)
n.1961A= (p.Lys654=)
c.2141A= (p.Lys714=)
c.1808A= (p.Lys603=)
7g.117592218A>CCA368979438CFTRc.2051A>C (p.Lys684Thr)
c.*1765A>C (p.=)
c.1402-10608A>C (p.=)
c.1868A>C (p.Lys623Thr)
n.1868A>C (p.Lys623Thr)
n.1961A>C (p.Lys654Thr)
c.2141A>C (p.Lys714Thr)
c.1808A>C (p.Lys603Thr)
gnomAD
7g.117592218A>GCA164947746CFTRc.2051A>G (p.Lys684Arg)
c.*1765A>G (p.=)
c.1402-10608A>G (p.=)
c.1868A>G (p.Lys623Arg)
n.1868A>G (p.Lys623Arg)
n.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 (p.=)
c.1402-10608A>T (p.=)
c.1868A>T (p.Lys623Ile)
n.1868A>T (p.Lys623Ile)
n.1961A>T (p.Lys654Ile)
c.2141A>T (p.Lys714Ile)
c.1808A>T (p.Lys603Ile)
7g.117592218_117592219delinsGCA325699CFTRc.2051_2052delinsG (p.Lys684SerfsTer?)
c.*1765_*1766delinsG (p.=)
c.1402-10608_1402-10607delinsG (p.=)
c.1868_1869delinsG (p.Lys623SerfsTer?)
n.1868_1869delinsG (p.Lys623SerfsTer?)
n.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 (p.=)
c.1402-10606_1402-10604del (p.=)
c.1870_1872del (p.Gln624del)
n.1870_1872del (p.Gln624del)
n.1963_1965del (p.Gln655del)
c.2143_2145del (p.Gln715del)
c.1810_1812del (p.Gln604del)
dbSNP gnomAD
7g.117592218_117592219insGCA923726134CFTRc.2051_2052insG (p.Gln685ThrfsTer4)
c.*1765_*1766insG (p.=)
c.1402-10608_1402-10607insG (p.=)
c.1868_1869insG (p.Gln624ThrfsTer4)
n.1868_1869insG (p.Gln624ThrfsTer4)
n.1961_1962insG (p.Gln655ThrfsTer4)
c.2141_2142insG (p.Gln715ThrfsTer4)
c.1808_1809insG (p.Gln604ThrfsTer4)
7g.117592219A=CA1737394631CFTRc.2052A= (p.Lys684=)
c.*1766A= (p.=)
c.1402-10607A= (p.=)
c.1869A= (p.Lys623=)
n.1869A= (p.Lys623=)
n.1962A= (p.Lys654=)
c.2142A= (p.Lys714=)
c.1809A= (p.Lys603=)
7g.117592219A>CCA368979443CFTRc.2052A>C (p.Lys684Asn)
c.*1766A>C (p.=)
c.1402-10607A>C (p.=)
c.1869A>C (p.Lys623Asn)
n.1869A>C (p.Lys623Asn)
n.1962A>C (p.Lys654Asn)
c.2142A>C (p.Lys714Asn)
c.1809A>C (p.Lys603Asn)
ClinVar

Number of alleles fetched