Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.92718753A>CCA374035068BICD2c.1892T>G (p.Ile631Ser)
c.1973T>G (p.Ile658Ser)
9g.92718753A>GCA374035066BICD2c.1892T>C (p.Ile631Thr)
c.1973T>C (p.Ile658Thr)
9g.92718753A>TCA374035063BICD2c.1892T>A (p.Ile631Asn)
c.1973T>A (p.Ile658Asn)
9g.92718754T>ACA374035072BICD2c.1891A>T (p.Ile631Phe)
c.1972A>T (p.Ile658Phe)
9g.92718754T>CCA374035074BICD2c.1891A>G (p.Ile631Val)
c.1972A>G (p.Ile658Val)
9g.92718754T>GCA374035077BICD2c.1891A>C (p.Ile631Leu)
c.1972A>C (p.Ile658Leu)
9g.92718755C>ACA466342899BICD2c.1890G>T (p.Leu630=)
c.1971G>T (p.Leu657=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.92718755C=CA1864360828BICD2c.1890G= (p.Leu630=)
c.1971G= (p.Leu657=)
9g.92718755C>GCA466342900BICD2c.1890G>C (p.Leu630=)
c.1971G>C (p.Leu657=)
9g.92718755C>TCA466342901BICD2c.1890G>A (p.Leu630=)
c.1971G>A (p.Leu657=)
9g.92718756A>CCA374035080BICD2c.1889T>G (p.Leu630Arg)
c.1970T>G (p.Leu657Arg)
9g.92718756A>GCA374035082BICD2c.1889T>C (p.Leu630Pro)
c.1970T>C (p.Leu657Pro)
9g.92718756A>TCA374035084BICD2c.1889T>A (p.Leu630Gln)
c.1970T>A (p.Leu657Gln)
9g.92718757G>ACA466342904BICD2c.1888C>T (p.Leu630=)
c.1969C>T (p.Leu657=)
9g.92718757G>CCA374035086BICD2c.1888C>G (p.Leu630Val)
c.1969C>G (p.Leu657Val)
9g.92718757G>TCA374035088BICD2c.1888C>A (p.Leu630Met)
c.1969C>A (p.Leu657Met)
9g.92718758G>ACA466342905BICD2c.1887C>T (p.Asn629=)
c.1968C>T (p.Asn656=)
9g.92718758G>CCA374035090BICD2c.1887C>G (p.Asn629Lys)
c.1968C>G (p.Asn656Lys)
9g.92718758G>TCA374035093BICD2c.1887C>A (p.Asn629Lys)
c.1968C>A (p.Asn656Lys)
9g.92718759T>ACA374035096BICD2c.1886A>T (p.Asn629Ile)
c.1967A>T (p.Asn656Ile)
9g.92718759T>CCA5126462BICD2c.1886A>G (p.Asn629Ser)
c.1967A>G (p.Asn656Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.92718759T>GCA374035102BICD2c.1886A>C (p.Asn629Thr)
c.1967A>C (p.Asn656Thr)
9g.92718759T=CA1864360833BICD2c.1886A= (p.Asn629=)
c.1967A= (p.Asn656=)
9g.92718760T>ACA374035111BICD2c.1885A>T (p.Asn629Tyr)
c.1966A>T (p.Asn656Tyr)
9g.92718760T>CCA374035108BICD2c.1885A>G (p.Asn629Asp)
c.1966A>G (p.Asn656Asp)
9g.92718760T>GCA374035105BICD2c.1885A>C (p.Asn629His)
c.1966A>C (p.Asn656His)
9g.92718761G>ACA466342908BICD2c.1884C>T (p.Tyr628=)
c.1965C>T (p.Tyr655=)
9g.92718761G>CCA374035117BICD2c.1884C>G (p.Tyr628Ter)
c.1965C>G (p.Tyr655Ter)
9g.92718761G>TCA374035114BICD2c.1884C>A (p.Tyr628Ter)
c.1965C>A (p.Tyr655Ter)
9g.92718762T>ACA374035124BICD2c.1883A>T (p.Tyr628Phe)
c.1964A>T (p.Tyr655Phe)
9g.92718762T>CCA374035120BICD2c.1883A>G (p.Tyr628Cys)
c.1964A>G (p.Tyr655Cys)
 ClinVar dbSNP gnomAD v4
9g.92718762T>GCA374035121BICD2c.1883A>C (p.Tyr628Ser)
c.1964A>C (p.Tyr655Ser)
9g.92718762T=CA1864360838BICD2c.1883A= (p.Tyr628=)
c.1964A= (p.Tyr655=)
9g.92718763A=CA1864360845BICD2c.1882T= (p.Tyr628=)
c.1963T= (p.Tyr655=)
9g.92718763A>CCA5126463BICD2c.1882T>G (p.Tyr628Asp)
c.1963T>G (p.Tyr655Asp)
 dbSNP ExAC gnomAD v2
9g.92718763A>GCA374035129BICD2c.1882T>C (p.Tyr628His)
c.1963T>C (p.Tyr655His)
9g.92718763A>TCA374035132BICD2c.1882T>A (p.Tyr628Asn)
c.1963T>A (p.Tyr655Asn)
9g.92718764G>ACA466342909BICD2c.1881C>T (p.Ile627=)
c.1962C>T (p.Ile654=)
9g.92718764G>CCA374035135BICD2c.1881C>G (p.Ile627Met)
c.1962C>G (p.Ile654Met)
9g.92718764G=CA1864360848BICD2c.1881C= (p.Ile627=)
c.1962C= (p.Ile654=)
9g.92718764G>TCA466342910BICD2c.1881C>A (p.Ile627=)
c.1962C>A (p.Ile654=)
 dbSNP gnomAD v3 gnomAD v4
9g.92718765A>CCA374035139BICD2c.1880T>G (p.Ile627Ser)
c.1961T>G (p.Ile654Ser)
9g.92718765A>GCA374035141BICD2c.1880T>C (p.Ile627Thr)
c.1961T>C (p.Ile654Thr)
9g.92718765A>TCA374035143BICD2c.1880T>A (p.Ile627Asn)
c.1961T>A (p.Ile654Asn)
9g.92718766T>ACA374035146BICD2c.1879A>T (p.Ile627Phe)
c.1960A>T (p.Ile654Phe)
9g.92718766T>CCA374035149BICD2c.1879A>G (p.Ile627Val)
c.1960A>G (p.Ile654Val)
9g.92718766T>GCA374035151BICD2c.1879A>C (p.Ile627Leu)
c.1960A>C (p.Ile654Leu)
9g.92718767G>ACA5126464BICD2c.1878C>T (p.Asn626=)
c.1959C>T (p.Asn653=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92718767G>CCA374035157BICD2c.1878C>G (p.Asn626Lys)
c.1959C>G (p.Asn653Lys)
9g.92718767G=CA1864360852BICD2c.1878C= (p.Asn626=)
c.1959C= (p.Asn653=)
9g.92718767G>TCA374035154BICD2c.1878C>A (p.Asn626Lys)
c.1959C>A (p.Asn653Lys)
9g.92718768T>ACA374035162BICD2c.1877A>T (p.Asn626Ile)
c.1958A>T (p.Asn653Ile)
9g.92718768T>CCA374035164BICD2c.1877A>G (p.Asn626Ser)
c.1958A>G (p.Asn653Ser)
9g.92718768T>GCA374035168BICD2c.1877A>C (p.Asn626Thr)
c.1958A>C (p.Asn653Thr)
9g.92718769T>ACA374035171BICD2c.1876A>T (p.Asn626Tyr)
c.1957A>T (p.Asn653Tyr)
9g.92718769T>CCA374035173BICD2c.1876A>G (p.Asn626Asp)
c.1957A>G (p.Asn653Asp)
 gnomAD v4
9g.92718769T>GCA374035175BICD2c.1876A>C (p.Asn626His)
c.1957A>C (p.Asn653His)
9g.92718770C>ACA374035179BICD2c.1875G>T (p.Met625Ile)
c.1956G>T (p.Met652Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.92718770C=CA1864360853BICD2c.1875G= (p.Met625=)
c.1956G= (p.Met652=)
9g.92718770C>GCA374035181BICD2c.1875G>C (p.Met625Ile)
c.1956G>C (p.Met652Ile)
9g.92718770C>TCA374035184BICD2c.1875G>A (p.Met625Ile)
c.1956G>A (p.Met652Ile)
9g.92718771A=CA1864360855BICD2c.1874T= (p.Met625=)
c.1955T= (p.Met652=)
9g.92718771A>CCA374035186BICD2c.1874T>G (p.Met625Arg)
c.1955T>G (p.Met652Arg)
9g.92718771A>GCA374035188BICD2c.1874T>C (p.Met625Thr)
c.1955T>C (p.Met652Thr)
 dbSNP
9g.92718771A>TCA374035190BICD2c.1874T>A (p.Met625Lys)
c.1955T>A (p.Met652Lys)
9g.92718772T>ACA374035197BICD2c.1873A>T (p.Met625Leu)
c.1954A>T (p.Met652Leu)
9g.92718772T>CCA374035194BICD2c.1873A>G (p.Met625Val)
c.1954A>G (p.Met652Val)
9g.92718772T>GCA374035192BICD2c.1873A>C (p.Met625Leu)
c.1954A>C (p.Met652Leu)
9g.92718773G>ACA466342922BICD2c.1872C>T (p.Pro624=)
c.1953C>T (p.Pro651=)
9g.92718773G>CCA466342921BICD2c.1872C>G (p.Pro624=)
c.1953C>G (p.Pro651=)
 gnomAD v4
9g.92718773G>TCA466342920BICD2c.1872C>A (p.Pro624=)
c.1953C>A (p.Pro651=)
9g.92718774G>ACA374035200BICD2c.1871C>T (p.Pro624Leu)
c.1952C>T (p.Pro651Leu)
9g.92718774G>CCA374035202BICD2c.1871C>G (p.Pro624Arg)
c.1952C>G (p.Pro651Arg)
9g.92718774G>TCA374035204BICD2c.1871C>A (p.Pro624His)
c.1952C>A (p.Pro651His)
 gnomAD v4
9g.92718775G>ACA374035208BICD2c.1870C>T (p.Pro624Ser)
c.1951C>T (p.Pro651Ser)
9g.92718775G>CCA374035211BICD2c.1870C>G (p.Pro624Ala)
c.1951C>G (p.Pro651Ala)
9g.92718775G>TCA374035214BICD2c.1870C>A (p.Pro624Thr)
c.1951C>A (p.Pro651Thr)
9g.92718776C>ACA374035222BICD2c.1869G>T (p.Glu623Asp)
c.1950G>T (p.Glu650Asp)
9g.92718776C=CA1864360859BICD2c.1869G= (p.Glu623=)
c.1950G= (p.Glu650=)
9g.92718776C>GCA374035218BICD2c.1869G>C (p.Glu623Asp)
c.1950G>C (p.Glu650Asp)
9g.92718776C>TCA466342927BICD2c.1869G>A (p.Glu623=)
c.1950G>A (p.Glu650=)
 dbSNP
9g.92718777T>ACA374035224BICD2c.1868A>T (p.Glu623Val)
c.1949A>T (p.Glu650Val)
9g.92718777T>CCA374035225BICD2c.1868A>G (p.Glu623Gly)
c.1949A>G (p.Glu650Gly)
9g.92718777T>GCA374035228BICD2c.1868A>C (p.Glu623Ala)
c.1949A>C (p.Glu650Ala)
9g.92718778C>ACA374035233BICD2c.1867G>T (p.Glu623Ter)
c.1948G>T (p.Glu650Ter)
9g.92718778C>GCA374035246BICD2c.1867G>C (p.Glu623Gln)
c.1948G>C (p.Glu650Gln)
9g.92718778C>TCA374035249BICD2c.1867G>A (p.Glu623Lys)
c.1948G>A (p.Glu650Lys)
 COSMIC COSMIC
9g.92718779C>ACA466342930BICD2c.1866G>T (p.Arg622=)
c.1947G>T (p.Arg649=)
9g.92718779C>GCA466342931BICD2c.1866G>C (p.Arg622=)
c.1947G>C (p.Arg649=)
9g.92718779C>TCA466342932BICD2c.1866G>A (p.Arg622=)
c.1947G>A (p.Arg649=)
9g.92718780C>ACA374035252BICD2c.1865G>T (p.Arg622Leu)
c.1946G>T (p.Arg649Leu)
9g.92718780C=CA1864360864BICD2c.1865G= (p.Arg622=)
c.1946G= (p.Arg649=)
9g.92718780C>GCA374035257BICD2c.1865G>C (p.Arg622Pro)
c.1946G>C (p.Arg649Pro)
9g.92718780C>TCA5126465BICD2c.1865G>A (p.Arg622Gln)
c.1946G>A (p.Arg649Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92718781G>ACA374035261BICD2c.1864C>T (p.Arg622Trp)
c.1945C>T (p.Arg649Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.92718781G>CCA374035265BICD2c.1864C>G (p.Arg622Gly)
c.1945C>G (p.Arg649Gly)
9g.92718781G=CA1864360866BICD2c.1864C= (p.Arg622=)
c.1945C= (p.Arg649=)
9g.92718781G>TCA466342934BICD2c.1864C>A (p.Arg622=)
c.1945C>A (p.Arg649=)
 dbSNP
9g.92718782G>ACA466342935BICD2c.1863C>T (p.Arg621=)
c.1944C>T (p.Arg648=)
 dbSNP gnomAD v2 gnomAD v4
9g.92718782G>CCA466342936BICD2c.1863C>G (p.Arg621=)
c.1944C>G (p.Arg648=)
9g.92718782G=CA1864360873BICD2c.1863C= (p.Arg621=)
c.1944C= (p.Arg648=)
9g.92718782G>TCA466342937BICD2c.1863C>A (p.Arg621=)
c.1944C>A (p.Arg648=)
9g.92718783C>ACA374035268BICD2c.1862G>T (p.Arg621Leu)
c.1943G>T (p.Arg648Leu)
 gnomAD v4
9g.92718783C=CA1864360877BICD2c.1862G= (p.Arg621=)
c.1943G= (p.Arg648=)
9g.92718783C>GCA374035271BICD2c.1862G>C (p.Arg621Pro)
c.1943G>C (p.Arg648Pro)
9g.92718783C>TCA5126466BICD2c.1862G>A (p.Arg621His)
c.1943G>A (p.Arg648His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92718784G>ACA5126467BICD2c.1861C>T (p.Arg621Cys)
c.1942C>T (p.Arg648Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.92718784G>CCA374035278BICD2c.1861C>G (p.Arg621Gly)
c.1942C>G (p.Arg648Gly)
9g.92718784G=CA1864360880BICD2c.1861C= (p.Arg621=)
c.1942C= (p.Arg648=)
9g.92718784G>TCA374035280BICD2c.1861C>A (p.Arg621Ser)
c.1942C>A (p.Arg648Ser)
9g.92718785T>ACA466342941BICD2c.1860A>T (p.Pro620=)
c.1941A>T (p.Pro647=)
9g.92718785T>CCA466342942BICD2c.1860A>G (p.Pro620=)
c.1941A>G (p.Pro647=)
9g.92718785T>GCA466342943BICD2c.1860A>C (p.Pro620=)
c.1941A>C (p.Pro647=)
9g.92718786G>ACA374035283BICD2c.1859C>T (p.Pro620Leu)
c.1940C>T (p.Pro647Leu)
 gnomAD v4
9g.92718786G>CCA374035285BICD2c.1859C>G (p.Pro620Arg)
c.1940C>G (p.Pro647Arg)
9g.92718786G>TCA374035286BICD2c.1859C>A (p.Pro620Gln)
c.1940C>A (p.Pro647Gln)
9g.92718787G>ACA374035292BICD2c.1858C>T (p.Pro620Ser)
c.1939C>T (p.Pro647Ser)
 dbSNP
9g.92718787G>CCA374035295BICD2c.1858C>G (p.Pro620Ala)
c.1939C>G (p.Pro647Ala)
 gnomAD v4
9g.92718787G=CA1864360884BICD2c.1858C= (p.Pro620=)
c.1939C= (p.Pro647=)
9g.92718787G>TCA374035289BICD2c.1858C>A (p.Pro620Thr)
c.1939C>A (p.Pro647Thr)
 ClinVar
9g.92718788G>ACA466342947BICD2c.1857C>T (p.Asp619=)
c.1938C>T (p.Asp646=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.92718788G>CCA374035298BICD2c.1857C>G (p.Asp619Glu)
c.1938C>G (p.Asp646Glu)
9g.92718788G=CA1864360888BICD2c.1857C= (p.Asp619=)
c.1938C= (p.Asp646=)
9g.92718788G>TCA374035301BICD2c.1857C>A (p.Asp619Glu)
c.1938C>A (p.Asp646Glu)
9g.92718789T>ACA374035303BICD2c.1856A>T (p.Asp619Val)
c.1937A>T (p.Asp646Val)
9g.92718789T>CCA374035305BICD2c.1856A>G (p.Asp619Gly)
c.1937A>G (p.Asp646Gly)
9g.92718789T>GCA374035307BICD2c.1856A>C (p.Asp619Ala)
c.1937A>C (p.Asp646Ala)
9g.92718790C>ACA374035310BICD2c.1855G>T (p.Asp619Tyr)
c.1936G>T (p.Asp646Tyr)
9g.92718790C>GCA374035312BICD2c.1855G>C (p.Asp619His)
c.1936G>C (p.Asp646His)
9g.92718790C>TCA374035315BICD2c.1855G>A (p.Asp619Asn)
c.1936G>A (p.Asp646Asn)
 gnomAD v4
9g.92718791_92718792delCA2785103393BICD2c.1854_1855del (p.Ser618ArgfsTer18)
c.1935_1936del (p.Ser645ArgfsTer18)
9g.92718791A=CA1864360892BICD2c.1854T= (p.Ser618=)
c.1935T= (p.Ser645=)
9g.92718791A>CCA374035320BICD2c.1854T>G (p.Ser618Arg)
c.1935T>G (p.Ser645Arg)
9g.92718791A>GCA5126468BICD2c.1854T>C (p.Ser618=)
c.1935T>C (p.Ser645=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.92718791A>TCA374035324BICD2c.1854T>A (p.Ser618Arg)
c.1935T>A (p.Ser645Arg)
9g.92718792C>ACA374035337BICD2c.1853G>T (p.Ser618Ile)
c.1934G>T (p.Ser645Ile)
9g.92718792C>GCA374035339BICD2c.1853G>C (p.Ser618Thr)
c.1934G>C (p.Ser645Thr)
9g.92718792C>TCA374035346BICD2c.1853G>A (p.Ser618Asn)
c.1934G>A (p.Ser645Asn)
 gnomAD v4
9g.92718793T>ACA374035351BICD2c.1852A>T (p.Ser618Cys)
c.1933A>T (p.Ser645Cys)
9g.92718793T>CCA374035350BICD2c.1852A>G (p.Ser618Gly)
c.1933A>G (p.Ser645Gly)
9g.92718793T>GCA374035349BICD2c.1852A>C (p.Ser618Arg)
c.1933A>C (p.Ser645Arg)
9g.92718794C>ACA466342952BICD2c.1851G>T (p.Leu617=)
c.1932G>T (p.Leu644=)
9g.92718794C>GCA466342953BICD2c.1851G>C (p.Leu617=)
c.1932G>C (p.Leu644=)
9g.92718794C>TCA466342954BICD2c.1851G>A (p.Leu617=)
c.1932G>A (p.Leu644=)
 gnomAD v4
9g.92718795A>CCA374035354BICD2c.1850T>G (p.Leu617Arg)
c.1931T>G (p.Leu644Arg)
9g.92718795A>GCA374035364BICD2c.1850T>C (p.Leu617Pro)
c.1931T>C (p.Leu644Pro)
9g.92718795A>TCA374035367BICD2c.1850T>A (p.Leu617Gln)
c.1931T>A (p.Leu644Gln)
9g.92718796G>ACA196340025BICD2c.1849C>T (p.Leu617=)
c.1930C>T (p.Leu644=)
 dbSNP gnomAD v4
9g.92718796G>CCA374035369BICD2c.1849C>G (p.Leu617Val)
c.1930C>G (p.Leu644Val)
 ClinVar dbSNP gnomAD v4
9g.92718796G=CA1864360898BICD2c.1849C= (p.Leu617=)
c.1930C= (p.Leu644=)
9g.92718796G>TCA374035370BICD2c.1849C>A (p.Leu617Met)
c.1930C>A (p.Leu644Met)
9g.92718799delCA2580080662BICD2c.1849del (p.Leu617Ter)
c.1930del (p.Leu644Ter)
 ClinVar
9g.92718797G>ACA466342961BICD2c.1848C>T (p.Pro616=)
c.1929C>T (p.Pro643=)
 dbSNP gnomAD v3 gnomAD v4
9g.92718797G>CCA466342959BICD2c.1848C>G (p.Pro616=)
c.1929C>G (p.Pro643=)
9g.92718797G=CA1864360902BICD2c.1848C= (p.Pro616=)
c.1929C= (p.Pro643=)
9g.92718797G>TCA466342958BICD2c.1848C>A (p.Pro616=)
c.1929C>A (p.Pro643=)
 gnomAD v4
9g.92718798G>ACA374035371BICD2c.1847C>T (p.Pro616Leu)
c.1928C>T (p.Pro643Leu)
9g.92718798G>CCA374035372BICD2c.1847C>G (p.Pro616Arg)
c.1928C>G (p.Pro643Arg)
9g.92718798G>TCA374035373BICD2c.1847C>A (p.Pro616His)
c.1928C>A (p.Pro643His)
9g.92718799G>ACA374035374BICD2c.1846C>T (p.Pro616Ser)
c.1927C>T (p.Pro643Ser)
 dbSNP gnomAD v3 gnomAD v4
9g.92718799G>CCA374035376BICD2c.1846C>G (p.Pro616Ala)
c.1927C>G (p.Pro643Ala)
9g.92718799G=CA1864360904BICD2c.1846C= (p.Pro616=)
c.1927C= (p.Pro643=)
9g.92718799G>TCA374035379BICD2c.1846C>A (p.Pro616Thr)
c.1927C>A (p.Pro643Thr)
9g.92718800T>ACA466342965BICD2c.1845A>T (p.Ser615=)
c.1926A>T (p.Ser642=)
9g.92718800T>CCA466342966BICD2c.1845A>G (p.Ser615=)
c.1926A>G (p.Ser642=)
9g.92718800T>GCA466342967BICD2c.1845A>C (p.Ser615=)
c.1926A>C (p.Ser642=)
9g.92718801G>ACA374035380BICD2c.1844C>T (p.Ser615Leu)
c.1925C>T (p.Ser642Leu)
9g.92718801G>CCA374035381BICD2c.1844C>G (p.Ser615Ter)
c.1925C>G (p.Ser642Ter)
9g.92718801G>TCA374035384BICD2c.1844C>A (p.Ser615Ter)
c.1925C>A (p.Ser642Ter)
9g.92718802A>CCA374035393BICD2c.1843T>G (p.Ser615Ala)
c.1924T>G (p.Ser642Ala)
9g.92718802A>GCA374035395BICD2c.1843T>C (p.Ser615Pro)
c.1924T>C (p.Ser642Pro)
9g.92718802A>TCA374035391BICD2c.1843T>A (p.Ser615Thr)
c.1924T>A (p.Ser642Thr)
9g.92718803T>ACA466342968BICD2c.1842A>T (p.Pro614=)
c.1923A>T (p.Pro641=)
9g.92718803T>CCA5126469BICD2c.1842A>G (p.Pro614=)
c.1923A>G (p.Pro641=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92718803T>GCA466342969BICD2c.1842A>C (p.Pro614=)
c.1923A>C (p.Pro641=)
9g.92718803T=CA1864360910BICD2c.1842A= (p.Pro614=)
c.1923A= (p.Pro641=)
9g.92718804G>ACA374035402BICD2c.1841C>T (p.Pro614Leu)
c.1922C>T (p.Pro641Leu)
9g.92718804G>CCA374035407BICD2c.1841C>G (p.Pro614Arg)
c.1922C>G (p.Pro641Arg)
9g.92718804G>TCA374035410BICD2c.1841C>A (p.Pro614Gln)
c.1922C>A (p.Pro641Gln)
9g.92718805G>ACA374035412BICD2c.1840C>T (p.Pro614Ser)
c.1921C>T (p.Pro641Ser)
 dbSNP
9g.92718805G>CCA374035413BICD2c.1840C>G (p.Pro614Ala)
c.1921C>G (p.Pro641Ala)
9g.92718805G=CA1864360915BICD2c.1840C= (p.Pro614=)
c.1921C= (p.Pro641=)
9g.92718805G>TCA374035414BICD2c.1840C>A (p.Pro614Thr)
c.1921C>A (p.Pro641Thr)
 COSMIC COSMIC
9g.92718806C>ACA466342971BICD2c.1839G>T (p.Leu613=)
c.1920G>T (p.Leu640=)
9g.92718806C>GCA466342972BICD2c.1839G>C (p.Leu613=)
c.1920G>C (p.Leu640=)
9g.92718806C>TCA466342973BICD2c.1839G>A (p.Leu613=)
c.1920G>A (p.Leu640=)
9g.92718807A>CCA374035416BICD2c.1838T>G (p.Leu613Arg)
c.1919T>G (p.Leu640Arg)
9g.92718807A>GCA374035419BICD2c.1838T>C (p.Leu613Pro)
c.1919T>C (p.Leu640Pro)
9g.92718807A>TCA374035423BICD2c.1838T>A (p.Leu613Gln)
c.1919T>A (p.Leu640Gln)
9g.92718808G>ACA466342975BICD2c.1837C>T (p.Leu613=)
c.1918C>T (p.Leu640=)
 dbSNP gnomAD v2 gnomAD v4
9g.92718808G>CCA374035426BICD2c.1837C>G (p.Leu613Val)
c.1918C>G (p.Leu640Val)
9g.92718808G=CA1864360919BICD2c.1837C= (p.Leu613=)
c.1918C= (p.Leu640=)
9g.92718808G>TCA374035427BICD2c.1837C>A (p.Leu613Met)
c.1918C>A (p.Leu640Met)
9g.92718809T>ACA466342981BICD2c.1836A>T (p.Ser612=)
c.1917A>T (p.Ser639=)
9g.92718809T>CCA466342982BICD2c.1836A>G (p.Ser612=)
c.1917A>G (p.Ser639=)
9g.92718809T>GCA466342983BICD2c.1836A>C (p.Ser612=)
c.1917A>C (p.Ser639=)
 gnomAD v4
9g.92718810G>ACA374035441BICD2c.1835C>T (p.Ser612Leu)
c.1916C>T (p.Ser639Leu)
9g.92718810G>CCA374035440BICD2c.1835C>G (p.Ser612Ter)
c.1916C>G (p.Ser639Ter)
9g.92718810G>TCA374035431BICD2c.1835C>A (p.Ser612Ter)
c.1916C>A (p.Ser639Ter)
9g.92718811A>CCA374035442BICD2c.1834T>G (p.Ser612Ala)
c.1915T>G (p.Ser639Ala)
9g.92718811A>GCA374035443BICD2c.1834T>C (p.Ser612Pro)
c.1915T>C (p.Ser639Pro)
9g.92718811A>TCA374035444BICD2c.1834T>A (p.Ser612Thr)
c.1915T>A (p.Ser639Thr)
9g.92718812G>ACA466342985BICD2c.1833C>T (p.Ser611=)
c.1914C>T (p.Ser638=)
 dbSNP gnomAD v2
9g.92718812G>CCA466342987BICD2c.1833C>G (p.Ser611=)
c.1914C>G (p.Ser638=)
9g.92718812G=CA1864360922BICD2c.1833C= (p.Ser611=)
c.1914C= (p.Ser638=)
9g.92718812G>TCA466342988BICD2c.1833C>A (p.Ser611=)
c.1914C>A (p.Ser638=)
9g.92718813G>ACA374035445BICD2c.1832C>T (p.Ser611Phe)
c.1913C>T (p.Ser638Phe)
9g.92718813G>CCA374035448BICD2c.1832C>G (p.Ser611Cys)
c.1913C>G (p.Ser638Cys)
9g.92718813G>TCA374035451BICD2c.1832C>A (p.Ser611Tyr)
c.1913C>A (p.Ser638Tyr)
 COSMIC COSMIC
9g.92718814A=CA1864360927BICD2c.1831T= (p.Ser611=)
c.1912T= (p.Ser638=)
9g.92718814A>CCA374035455BICD2c.1831T>G (p.Ser611Ala)
c.1912T>G (p.Ser638Ala)
9g.92718814A>GCA5126470BICD2c.1831T>C (p.Ser611Pro)
c.1912T>C (p.Ser638Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92718814A>TCA374035460BICD2c.1831T>A (p.Ser611Thr)
c.1912T>A (p.Ser638Thr)
9g.92718815G>ACA466342991BICD2c.1830C>T (p.Gly610=)
c.1911C>T (p.Gly637=)
9g.92718815G>CCA466342993BICD2c.1830C>G (p.Gly610=)
c.1911C>G (p.Gly637=)
9g.92718815G>TCA466342992BICD2c.1830C>A (p.Gly610=)
c.1911C>A (p.Gly637=)
9g.92718816C>ACA374035464BICD2c.1829G>T (p.Gly610Val)
c.1910G>T (p.Gly637Val)
9g.92718816C>GCA374035466BICD2c.1829G>C (p.Gly610Ala)
c.1910G>C (p.Gly637Ala)
9g.92718816C>TCA374035470BICD2c.1829G>A (p.Gly610Asp)
c.1910G>A (p.Gly637Asp)
9g.92718817C>ACA374035477BICD2c.1828G>T (p.Gly610Cys)
c.1909G>T (p.Gly637Cys)
9g.92718817C>GCA374035488BICD2c.1828G>C (p.Gly610Arg)
c.1909G>C (p.Gly637Arg)
9g.92718817C>TCA374035480BICD2c.1828G>A (p.Gly610Ser)
c.1909G>A (p.Gly637Ser)
9g.92718818A>CCA466343001BICD2c.1827T>G (p.Pro609=)
c.1908T>G (p.Pro636=)
9g.92718818A>GCA466343002BICD2c.1827T>C (p.Pro609=)
c.1908T>C (p.Pro636=)
9g.92718818A>TCA466343003BICD2c.1827T>A (p.Pro609=)
c.1908T>A (p.Pro636=)
9g.92718819G>ACA374035489BICD2c.1826C>T (p.Pro609Leu)
c.1907C>T (p.Pro636Leu)
9g.92718819G>CCA374035492BICD2c.1826C>G (p.Pro609Arg)
c.1907C>G (p.Pro636Arg)
9g.92718819G>TCA374035499BICD2c.1826C>A (p.Pro609His)
c.1907C>A (p.Pro636His)
 gnomAD v4
9g.92718820G>ACA374035501BICD2c.1825C>T (p.Pro609Ser)
c.1906C>T (p.Pro636Ser)
9g.92718820G>CCA374035504BICD2c.1825C>G (p.Pro609Ala)
c.1906C>G (p.Pro636Ala)
9g.92718820G>TCA374035512BICD2c.1825C>A (p.Pro609Thr)
c.1906C>A (p.Pro636Thr)
9g.92718821C>ACA466343004BICD2c.1824G>T (p.Ser608=)
c.1905G>T (p.Ser635=)
 gnomAD v4
9g.92718821C=CA1864360931BICD2c.1824G= (p.Ser608=)
c.1905G= (p.Ser635=)
9g.92718821C>GCA196340036BICD2c.1824G>C (p.Ser608=)
c.1905G>C (p.Ser635=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.92718821C>TCA5126471BICD2c.1824G>A (p.Ser608=)
c.1905G>A (p.Ser635=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92718822G>ACA5126472BICD2c.1823C>T (p.Ser608Leu)
c.1904C>T (p.Ser635Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92718822G>CCA374035540BICD2c.1823C>G (p.Ser608Trp)
c.1904C>G (p.Ser635Trp)
9g.92718822G=CA1864360941BICD2c.1823C= (p.Ser608=)
c.1904C= (p.Ser635=)
9g.92718822G>TCA374035544BICD2c.1823C>A (p.Ser608Ter)
c.1904C>A (p.Ser635Ter)
9g.92718823A>CCA374035547BICD2c.1822T>G (p.Ser608Ala)
c.1903T>G (p.Ser635Ala)
9g.92718823A>GCA374035559BICD2c.1822T>C (p.Ser608Pro)
c.1903T>C (p.Ser635Pro)
9g.92718823A>TCA374035562BICD2c.1822T>A (p.Ser608Thr)
c.1903T>A (p.Ser635Thr)
9g.92718824G>ACA466343009BICD2c.1821C>T (p.Pro607=)
c.1902C>T (p.Pro634=)
 gnomAD v4
9g.92718824G>CCA466343010BICD2c.1821C>G (p.Pro607=)
c.1902C>G (p.Pro634=)
 gnomAD v4
9g.92718824G>TCA466343011BICD2c.1821C>A (p.Pro607=)
c.1902C>A (p.Pro634=)
9g.92718825G>ACA374035573BICD2c.1820C>T (p.Pro607Leu)
c.1901C>T (p.Pro634Leu)
9g.92718825G>CCA374035571BICD2c.1820C>G (p.Pro607Arg)
c.1901C>G (p.Pro634Arg)
 gnomAD v4
9g.92718825G>TCA374035568BICD2c.1820C>A (p.Pro607His)
c.1901C>A (p.Pro634His)
9g.92718826G>ACA374035576BICD2c.1819C>T (p.Pro607Ser)
c.1900C>T (p.Pro634Ser)
 gnomAD v4
9g.92718826G>CCA374035577BICD2c.1819C>G (p.Pro607Ala)
c.1900C>G (p.Pro634Ala)
 dbSNP gnomAD v4
9g.92718826G=CA1864360950BICD2c.1819C= (p.Pro607=)
c.1900C= (p.Pro634=)
9g.92718826G>TCA374035578BICD2c.1819C>A (p.Pro607Thr)
c.1900C>A (p.Pro634Thr)
9g.92718827G>ACA466343014BICD2c.1818C>T (p.Ser606=)
c.1899C>T (p.Ser633=)
9g.92718827G>CCA374035579BICD2c.1818C>G (p.Ser606Arg)
c.1899C>G (p.Ser633Arg)
9g.92718827G>TCA374035581BICD2c.1818C>A (p.Ser606Arg)
c.1899C>A (p.Ser633Arg)
 gnomAD v4
9g.92718828C>ACA374035584BICD2c.1817G>T (p.Ser606Ile)
c.1898G>T (p.Ser633Ile)
9g.92718828C=CA1864360954BICD2c.1817G= (p.Ser606=)
c.1898G= (p.Ser633=)
9g.92718828C>GCA374035587BICD2c.1817G>C (p.Ser606Thr)
c.1898G>C (p.Ser633Thr)
9g.92718828C>TCA196340065BICD2c.1817G>A (p.Ser606Asn)
c.1898G>A (p.Ser633Asn)
 ClinVar dbSNP gnomAD v4
9g.92718829T>ACA374035594BICD2c.1816A>T (p.Ser606Cys)
c.1897A>T (p.Ser633Cys)
9g.92718829T>CCA374035595BICD2c.1816A>G (p.Ser606Gly)
c.1897A>G (p.Ser633Gly)
9g.92718829T>GCA374035596BICD2c.1816A>C (p.Ser606Arg)
c.1897A>C (p.Ser633Arg)
9g.92718830G>ACA466343016BICD2c.1815C>T (p.Ser605=)
c.1896C>T (p.Ser632=)
 gnomAD v4
9g.92718830G>CCA374035597BICD2c.1815C>G (p.Ser605Arg)
c.1896C>G (p.Ser632Arg)
9g.92718830G>TCA374035600BICD2c.1815C>A (p.Ser605Arg)
c.1896C>A (p.Ser632Arg)
9g.92718831C>ACA374035612BICD2c.1814G>T (p.Ser605Ile)
c.1895G>T (p.Ser632Ile)
9g.92718831C>GCA374035613BICD2c.1814G>C (p.Ser605Thr)
c.1895G>C (p.Ser632Thr)
9g.92718831C>TCA374035608BICD2c.1814G>A (p.Ser605Asn)
c.1895G>A (p.Ser632Asn)
9g.92718832T>ACA374035614BICD2c.1813A>T (p.Ser605Cys)
c.1894A>T (p.Ser632Cys)
9g.92718832T>CCA5126474BICD2c.1813A>G (p.Ser605Gly)
c.1894A>G (p.Ser632Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.92718832T>GCA374035615BICD2c.1813A>C (p.Ser605Arg)
c.1894A>C (p.Ser632Arg)
9g.92718832T=CA1864360958BICD2c.1813A= (p.Ser605=)
c.1894A= (p.Ser632=)
9g.92718832_92718838delinsTGTCCCCCA1864360960BICD2c.1807_1813delinsGGGGACA (p.Gly603=)
c.1888_1894delinsGGGGACA (p.Gly630=)
9g.92718833G>ACA466342894BICD2c.1812C>T (p.Asp604=)
c.1893C>T (p.Asp631=)
 gnomAD v4
9g.92718833G>CCA374035618BICD2c.1812C>G (p.Asp604Glu)
c.1893C>G (p.Asp631Glu)
 gnomAD v4
9g.92718833G>TCA374035620BICD2c.1812C>A (p.Asp604Glu)
c.1893C>A (p.Asp631Glu)
9g.92718833_92718838delCA5126473BICD2c.1807_1812del (p.Gly603_Asp604del)
c.1888_1893del (p.Gly630_Asp631del)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.92718834T>ACA374035628BICD2c.1811A>T (p.Asp604Val)
c.1892A>T (p.Asp631Val)
9g.92718834T>CCA374035630BICD2c.1811A>G (p.Asp604Gly)
c.1892A>G (p.Asp631Gly)
 COSMIC COSMIC
9g.92718834T>GCA374035633BICD2c.1811A>C (p.Asp604Ala)
c.1892A>C (p.Asp631Ala)
9g.92718835C>ACA374035637BICD2c.1810G>T (p.Asp604Tyr)
c.1891G>T (p.Asp631Tyr)
9g.92718835C>GCA374035640BICD2c.1810G>C (p.Asp604His)
c.1891G>C (p.Asp631His)
9g.92718835C>TCA374035645BICD2c.1810G>A (p.Asp604Asn)
c.1891G>A (p.Asp631Asn)
 gnomAD v4
9g.92718836C>ACA466342896BICD2c.1809G>T (p.Gly603=)
c.1890G>T (p.Gly630=)
9g.92718836C=CA1864360966BICD2c.1809G= (p.Gly603=)
c.1890G= (p.Gly630=)
9g.92718836C>GCA466342897BICD2c.1809G>C (p.Gly603=)
c.1890G>C (p.Gly630=)
9g.92718836C>TCA466342898BICD2c.1809G>A (p.Gly603=)
c.1890G>A (p.Gly630=)
 dbSNP gnomAD v3 gnomAD v4
9g.92718837C>ACA374035654BICD2c.1808G>T (p.Gly603Val)
c.1889G>T (p.Gly630Val)
9g.92718837C>GCA374035649BICD2c.1808G>C (p.Gly603Ala)
c.1889G>C (p.Gly630Ala)
9g.92718837C>TCA374035652BICD2c.1808G>A (p.Gly603Glu)
c.1889G>A (p.Gly630Glu)
 gnomAD v4
9g.92718838C>ACA374035658BICD2c.1807G>T (p.Gly603Trp)
c.1888G>T (p.Gly630Trp)
9g.92718838C>GCA374035660BICD2c.1807G>C (p.Gly603Arg)
c.1888G>C (p.Gly630Arg)
9g.92718838C>TCA374035668BICD2c.1807G>A (p.Gly603Arg)
c.1888G>A (p.Gly630Arg)
 COSMIC COSMIC
9g.92718839C>ACA466342902BICD2c.1806G>T (p.Thr602=)
c.1887G>T (p.Thr629=)
9g.92718839C=CA1864360971BICD2c.1806G= (p.Thr602=)
c.1887G= (p.Thr629=)
9g.92718839C>GCA466342903BICD2c.1806G>C (p.Thr602=)
c.1887G>C (p.Thr629=)
9g.92718839C>TCA5126475BICD2c.1806G>A (p.Thr602=)
c.1887G>A (p.Thr629=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92718840G>ACA196340082BICD2c.1805C>T (p.Thr602Met)
c.1886C>T (p.Thr629Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.92718840G>CCA374035681BICD2c.1805C>G (p.Thr602Arg)
c.1886C>G (p.Thr629Arg)
9g.92718840G=CA1864360978BICD2c.1805C= (p.Thr602=)
c.1886C= (p.Thr629=)
9g.92718840G>TCA374035684BICD2c.1805C>A (p.Thr602Lys)
c.1886C>A (p.Thr629Lys)
9g.92718840_92718841delinsGTCA1864360979BICD2c.1804_1805delinsAC (p.Thr602=)
c.1885_1886delinsAC (p.Thr629=)
9g.92718841delCA5126476BICD2c.1804del (p.Thr602ArgfsTer16)
c.1885del (p.Thr629ArgfsTer16)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.92718841T>ACA374035685BICD2c.1804A>T (p.Thr602Ser)
c.1885A>T (p.Thr629Ser)
9g.92718841T>CCA196340115BICD2c.1804A>G (p.Thr602Ala)
c.1885A>G (p.Thr629Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.92718841T>GCA374035686BICD2c.1804A>C (p.Thr602Pro)
c.1885A>C (p.Thr629Pro)
9g.92718841T=CA1864360986BICD2c.1804A= (p.Thr602=)
c.1885A= (p.Thr629=)
9g.92718842C>ACA466342906BICD2c.1803G>T (p.Gly601=)
c.1884G>T (p.Gly628=)
9g.92718842C=CA1864360990BICD2c.1803G= (p.Gly601=)
c.1884G= (p.Gly628=)
9g.92718842C>GCA466342907BICD2c.1803G>C (p.Gly601=)
c.1884G>C (p.Gly628=)
9g.92718842C>TCA5126477BICD2c.1803G>A (p.Gly601=)
c.1884G>A (p.Gly628=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.92718843C>ACA374035692BICD2c.1802G>T (p.Gly601Val)
c.1883G>T (p.Gly628Val)
9g.92718843C=CA1864360996BICD2c.1802G= (p.Gly601=)
c.1883G= (p.Gly628=)
9g.92718843C>GCA374035689BICD2c.1802G>C (p.Gly601Ala)
c.1883G>C (p.Gly628Ala)
9g.92718843C>TCA5126479BICD2c.1802G>A (p.Gly601Glu)
c.1883G>A (p.Gly628Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92718843_92718845delinsCCACA1864360998BICD2c.1800_1802delinsTGG (p.Gly600=)
c.1881_1883delinsTGG (p.Gly627=)
9g.92718844C>ACA374035693BICD2c.1801G>T (p.Gly601Trp)
c.1882G>T (p.Gly628Trp)
 ClinVar dbSNP
9g.92718844C>GCA374035697BICD2c.1801G>C (p.Gly601Arg)
c.1882G>C (p.Gly628Arg)
9g.92718844C>TCA374035710BICD2c.1801G>A (p.Gly601Arg)
c.1882G>A (p.Gly628Arg)
9g.92718845_92718846delCA5126478BICD2c.1800_1801del (p.Gly601AspfsTer18)
c.1881_1882del (p.Gly628AspfsTer18)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.92718845A=CA1864361003BICD2c.1800T= (p.Gly600=)
c.1881T= (p.Gly627=)
9g.92718845A>CCA196340124BICD2c.1800T>G (p.Gly600=)
c.1881T>G (p.Gly627=)
 dbSNP gnomAD v4
9g.92718845A>GCA466342911BICD2c.1800T>C (p.Gly600=)
c.1881T>C (p.Gly627=)
 dbSNP
9g.92718845A>TCA466342912BICD2c.1800T>A (p.Gly600=)
c.1881T>A (p.Gly627=)
9g.92718846C>ACA374035715BICD2c.1799G>T (p.Gly600Val)
c.1880G>T (p.Gly627Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.92718846C=CA1864361006BICD2c.1799G= (p.Gly600=)
c.1880G= (p.Gly627=)
9g.92718846C>GCA374035716BICD2c.1799G>C (p.Gly600Ala)
c.1880G>C (p.Gly627Ala)
9g.92718846C>TCA5126480BICD2c.1799G>A (p.Gly600Asp)
c.1880G>A (p.Gly627Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.92718847C>ACA374035722BICD2c.1798G>T (p.Gly600Cys)
c.1879G>T (p.Gly627Cys)
 ClinVar gnomAD v4
9g.92718847C>GCA374035717BICD2c.1798G>C (p.Gly600Arg)
c.1879G>C (p.Gly627Arg)
9g.92718847C>TCA374035718BICD2c.1798G>A (p.Gly600Ser)
c.1879G>A (p.Gly627Ser)
9g.92718848A=CA1864361009BICD2c.1797T= (p.Asp599=)
c.1878T= (p.Asp626=)
9g.92718848A>CCA374035733BICD2c.1797T>G (p.Asp599Glu)
c.1878T>G (p.Asp626Glu)
9g.92718848A>GCA466342913BICD2c.1797T>C (p.Asp599=)
c.1878T>C (p.Asp626=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.92718848A>TCA374035736BICD2c.1797T>A (p.Asp599Glu)
c.1878T>A (p.Asp626Glu)
9g.92718849T>ACA374035737BICD2c.1796A>T (p.Asp599Val)
c.1877A>T (p.Asp626Val)
 dbSNP
9g.92718849T>CCA374035738BICD2c.1796A>G (p.Asp599Gly)
c.1877A>G (p.Asp626Gly)
9g.92718849T>GCA374035740BICD2c.1796A>C (p.Asp599Ala)
c.1877A>C (p.Asp626Ala)
9g.92718849T=CA1864361012BICD2c.1796A= (p.Asp599=)
c.1877A= (p.Asp626=)
9g.92718850C>ACA374035741BICD2c.1795G>T (p.Asp599Tyr)
c.1876G>T (p.Asp626Tyr)
 gnomAD v4
9g.92718850C>GCA374035743BICD2c.1795G>C (p.Asp599His)
c.1876G>C (p.Asp626His)
9g.92718850C>TCA374035742BICD2c.1795G>A (p.Asp599Asn)
c.1876G>A (p.Asp626Asn)
 gnomAD v4
9g.92718851T>ACA466342914BICD2c.1794A>T (p.Ala598=)
c.1875A>T (p.Ala625=)
9g.92718851T>CCA466342915BICD2c.1794A>G (p.Ala598=)
c.1875A>G (p.Ala625=)
9g.92718851T>GCA466342916BICD2c.1794A>C (p.Ala598=)
c.1875A>C (p.Ala625=)
9g.92718852G>ACA374035745BICD2c.1793C>T (p.Ala598Val)
c.1874C>T (p.Ala625Val)
9g.92718852G>CCA5126481BICD2c.1793C>G (p.Ala598Gly)
c.1874C>G (p.Ala625Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.92718852G=CA1864361014BICD2c.1793C= (p.Ala598=)
c.1874C= (p.Ala625=)
9g.92718852G>TCA374035764BICD2c.1793C>A (p.Ala598Glu)
c.1874C>A (p.Ala625Glu)
9g.92718853C>ACA374035771BICD2c.1792G>T (p.Ala598Ser)
c.1873G>T (p.Ala625Ser)
9g.92718853C>GCA374035772BICD2c.1792G>C (p.Ala598Pro)
c.1873G>C (p.Ala625Pro)
9g.92718853C>TCA374035773BICD2c.1792G>A (p.Ala598Thr)
c.1873G>A (p.Ala625Thr)
 gnomAD v4

Number of alleles fetched