Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.119413875_119413891dup | CA545960933 | ARHGAP31 | c.1946_1962dup (p.Glu655MetfsTer3) c.1853_1869dup (p.Glu624MetfsTer3) c.1886_1902dup (p.Glu635MetfsTer3) c.1454_1470dup (p.Glu491MetfsTer3) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.119413880del | CA1396548467 | ARHGAP31 | c.1951del (p.Leu651Ter) c.1858del (p.Leu620Ter) c.1891del (p.Leu631Ter) c.1459del (p.Leu487Ter) | dbSNP |
3 | g.119413880C>A | CA354047862 | ARHGAP31 | c.1951C>A (p.Leu651Met) c.1858C>A (p.Leu620Met) c.1891C>A (p.Leu631Met) c.1459C>A (p.Leu487Met) | |
3 | g.119413880C>G | CA354047869 | ARHGAP31 | c.1951C>G (p.Leu651Val) c.1858C>G (p.Leu620Val) c.1891C>G (p.Leu631Val) c.1459C>G (p.Leu487Val) | |
3 | g.119413880C>T | CA435411418 | ARHGAP31 | c.1951C>T (p.Leu651=) c.1858C>T (p.Leu620=) c.1891C>T (p.Leu631=) c.1459C>T (p.Leu487=) | |
3 | g.119413881T>A | CA354047872 | ARHGAP31 | c.1952T>A (p.Leu651Gln) c.1859T>A (p.Leu620Gln) c.1892T>A (p.Leu631Gln) c.1460T>A (p.Leu487Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.119413881T>C | CA354047873 | ARHGAP31 | c.1952T>C (p.Leu651Pro) c.1859T>C (p.Leu620Pro) c.1892T>C (p.Leu631Pro) c.1460T>C (p.Leu487Pro) | gnomAD v4 |
3 | g.119413881T>G | CA354047874 | ARHGAP31 | c.1952T>G (p.Leu651Arg) c.1859T>G (p.Leu620Arg) c.1892T>G (p.Leu631Arg) c.1460T>G (p.Leu487Arg) | |
3 | g.119413881T= | CA1396548469 | ARHGAP31 | c.1952T= (p.Leu651=) c.1859T= (p.Leu620=) c.1892T= (p.Leu631=) c.1460T= (p.Leu487=) | |
3 | g.119413882G>A | CA435411419 | ARHGAP31 | c.1953G>A (p.Leu651=) c.1860G>A (p.Leu620=) c.1893G>A (p.Leu631=) c.1461G>A (p.Leu487=) | |
3 | g.119413882G>C | CA435411420 | ARHGAP31 | c.1953G>C (p.Leu651=) c.1860G>C (p.Leu620=) c.1893G>C (p.Leu631=) c.1461G>C (p.Leu487=) | |
3 | g.119413882G>T | CA435411421 | ARHGAP31 | c.1953G>T (p.Leu651=) c.1860G>T (p.Leu620=) c.1893G>T (p.Leu631=) c.1461G>T (p.Leu487=) | gnomAD v4 |
3 | g.119413883A>C | CA354047879 | ARHGAP31 | c.1954A>C (p.Ile652Leu) c.1861A>C (p.Ile621Leu) c.1894A>C (p.Ile632Leu) c.1462A>C (p.Ile488Leu) | |
3 | g.119413883A>G | CA354047877 | ARHGAP31 | c.1954A>G (p.Ile652Val) c.1861A>G (p.Ile621Val) c.1894A>G (p.Ile632Val) c.1462A>G (p.Ile488Val) | |
3 | g.119413883A>T | CA354047878 | ARHGAP31 | c.1954A>T (p.Ile652Phe) c.1861A>T (p.Ile621Phe) c.1894A>T (p.Ile632Phe) c.1462A>T (p.Ile488Phe) | |
3 | g.119413884T>A | CA354047880 | ARHGAP31 | c.1955T>A (p.Ile652Asn) c.1862T>A (p.Ile621Asn) c.1895T>A (p.Ile632Asn) c.1463T>A (p.Ile488Asn) | |
3 | g.119413884T>C | CA354047882 | ARHGAP31 | c.1955T>C (p.Ile652Thr) c.1862T>C (p.Ile621Thr) c.1895T>C (p.Ile632Thr) c.1463T>C (p.Ile488Thr) | |
3 | g.119413884T>G | CA354047893 | ARHGAP31 | c.1955T>G (p.Ile652Ser) c.1862T>G (p.Ile621Ser) c.1895T>G (p.Ile632Ser) c.1463T>G (p.Ile488Ser) | |
3 | g.119413885C>A | CA435411425 | ARHGAP31 | c.1956C>A (p.Ile652=) c.1863C>A (p.Ile621=) c.1896C>A (p.Ile632=) c.1464C>A (p.Ile488=) | |
3 | g.119413885C= | CA1396548470 | ARHGAP31 | c.1956C= (p.Ile652=) c.1863C= (p.Ile621=) c.1896C= (p.Ile632=) c.1464C= (p.Ile488=) | |
3 | g.119413885C>G | CA354047895 | ARHGAP31 | c.1956C>G (p.Ile652Met) c.1863C>G (p.Ile621Met) c.1896C>G (p.Ile632Met) c.1464C>G (p.Ile488Met) | gnomAD v4 |
3 | g.119413885C>T | CA2553945 | ARHGAP31 | c.1956C>T (p.Ile652=) c.1863C>T (p.Ile621=) c.1896C>T (p.Ile632=) c.1464C>T (p.Ile488=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.119413886T>A | CA354047903 | ARHGAP31 | c.1957T>A (p.Trp653Arg) c.1864T>A (p.Trp622Arg) c.1897T>A (p.Trp633Arg) c.1465T>A (p.Trp489Arg) | |
3 | g.119413886T>C | CA354047896 | ARHGAP31 | c.1957T>C (p.Trp653Arg) c.1864T>C (p.Trp622Arg) c.1897T>C (p.Trp633Arg) c.1465T>C (p.Trp489Arg) | |
3 | g.119413886T>G | CA354047898 | ARHGAP31 | c.1957T>G (p.Trp653Gly) c.1864T>G (p.Trp622Gly) c.1897T>G (p.Trp633Gly) c.1465T>G (p.Trp489Gly) | |
3 | g.119413887G>A | CA354047911 | ARHGAP31 | c.1958G>A (p.Trp653Ter) c.1865G>A (p.Trp622Ter) c.1898G>A (p.Trp633Ter) c.1466G>A (p.Trp489Ter) | |
3 | g.119413887G>C | CA354047920 | ARHGAP31 | c.1958G>C (p.Trp653Ser) c.1865G>C (p.Trp622Ser) c.1898G>C (p.Trp633Ser) c.1466G>C (p.Trp489Ser) | |
3 | g.119413887G>T | CA354047926 | ARHGAP31 | c.1958G>T (p.Trp653Leu) c.1865G>T (p.Trp622Leu) c.1898G>T (p.Trp633Leu) c.1466G>T (p.Trp489Leu) | |
3 | g.119413888G>A | CA354047930 | ARHGAP31 | c.1959G>A (p.Trp653Ter) c.1866G>A (p.Trp622Ter) c.1899G>A (p.Trp633Ter) c.1467G>A (p.Trp489Ter) | |
3 | g.119413888G>C | CA354047936 | ARHGAP31 | c.1959G>C (p.Trp653Cys) c.1866G>C (p.Trp622Cys) c.1899G>C (p.Trp633Cys) c.1467G>C (p.Trp489Cys) | |
3 | g.119413888G>T | CA354047938 | ARHGAP31 | c.1959G>T (p.Trp653Cys) c.1866G>T (p.Trp622Cys) c.1899G>T (p.Trp633Cys) c.1467G>T (p.Trp489Cys) | |
3 | g.119413889C>A | CA354047942 | ARHGAP31 | c.1960C>A (p.Pro654Thr) c.1867C>A (p.Pro623Thr) c.1900C>A (p.Pro634Thr) c.1468C>A (p.Pro490Thr) | |
3 | g.119413889C>G | CA354047944 | ARHGAP31 | c.1960C>G (p.Pro654Ala) c.1867C>G (p.Pro623Ala) c.1900C>G (p.Pro634Ala) c.1468C>G (p.Pro490Ala) | |
3 | g.119413889C>T | CA354047954 | ARHGAP31 | c.1960C>T (p.Pro654Ser) c.1867C>T (p.Pro623Ser) c.1900C>T (p.Pro634Ser) c.1468C>T (p.Pro490Ser) | |
3 | g.119413890C>A | CA354047965 | ARHGAP31 | c.1961C>A (p.Pro654His) c.1868C>A (p.Pro623His) c.1901C>A (p.Pro634His) c.1469C>A (p.Pro490His) | |
3 | g.119413890C>G | CA354047968 | ARHGAP31 | c.1961C>G (p.Pro654Arg) c.1868C>G (p.Pro623Arg) c.1901C>G (p.Pro634Arg) c.1469C>G (p.Pro490Arg) | |
3 | g.119413890C>T | CA354047974 | ARHGAP31 | c.1961C>T (p.Pro654Leu) c.1868C>T (p.Pro623Leu) c.1901C>T (p.Pro634Leu) c.1469C>T (p.Pro490Leu) | |
3 | g.119413891T>A | CA435411437 | ARHGAP31 | c.1962T>A (p.Pro654=) c.1869T>A (p.Pro623=) c.1902T>A (p.Pro634=) c.1470T>A (p.Pro490=) | |
3 | g.119413891T>C | CA435411438 | ARHGAP31 | c.1962T>C (p.Pro654=) c.1869T>C (p.Pro623=) c.1902T>C (p.Pro634=) c.1470T>C (p.Pro490=) | |
3 | g.119413891T>G | CA435411439 | ARHGAP31 | c.1962T>G (p.Pro654=) c.1869T>G (p.Pro623=) c.1902T>G (p.Pro634=) c.1470T>G (p.Pro490=) | |
3 | g.119413892G>A | CA354047976 | ARHGAP31 | c.1963G>A (p.Glu655Lys) c.1870G>A (p.Glu624Lys) c.1903G>A (p.Glu635Lys) c.1471G>A (p.Glu491Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119413892G>C | CA354047984 | ARHGAP31 | c.1963G>C (p.Glu655Gln) c.1870G>C (p.Glu624Gln) c.1903G>C (p.Glu635Gln) c.1471G>C (p.Glu491Gln) | |
3 | g.119413892G= | CA1396548471 | ARHGAP31 | c.1963G= (p.Glu655=) c.1870G= (p.Glu624=) c.1903G= (p.Glu635=) c.1471G= (p.Glu491=) | |
3 | g.119413892G>T | CA354047979 | ARHGAP31 | c.1963G>T (p.Glu655Ter) c.1870G>T (p.Glu624Ter) c.1903G>T (p.Glu635Ter) c.1471G>T (p.Glu491Ter) | |
3 | g.119413893A>C | CA354047992 | ARHGAP31 | c.1964A>C (p.Glu655Ala) c.1871A>C (p.Glu624Ala) c.1904A>C (p.Glu635Ala) c.1472A>C (p.Glu491Ala) | gnomAD v4 |
3 | g.119413893A>G | CA354048003 | ARHGAP31 | c.1964A>G (p.Glu655Gly) c.1871A>G (p.Glu624Gly) c.1904A>G (p.Glu635Gly) c.1472A>G (p.Glu491Gly) | |
3 | g.119413893A>T | CA354047996 | ARHGAP31 | c.1964A>T (p.Glu655Val) c.1871A>T (p.Glu624Val) c.1904A>T (p.Glu635Val) c.1472A>T (p.Glu491Val) | |
3 | g.119413894G>A | CA435411337 | ARHGAP31 | c.1965G>A (p.Glu655=) c.1872G>A (p.Glu624=) c.1905G>A (p.Glu635=) c.1473G>A (p.Glu491=) | |
3 | g.119413894G>C | CA354048005 | ARHGAP31 | c.1965G>C (p.Glu655Asp) c.1872G>C (p.Glu624Asp) c.1905G>C (p.Glu635Asp) c.1473G>C (p.Glu491Asp) | |
3 | g.119413894G>T | CA354048007 | ARHGAP31 | c.1965G>T (p.Glu655Asp) c.1872G>T (p.Glu624Asp) c.1905G>T (p.Glu635Asp) c.1473G>T (p.Glu491Asp) | |
3 | g.119413895A>C | CA354048009 | ARHGAP31 | c.1966A>C (p.Ile656Leu) c.1873A>C (p.Ile625Leu) c.1906A>C (p.Ile636Leu) c.1474A>C (p.Ile492Leu) | |
3 | g.119413895A>G | CA354048015 | ARHGAP31 | c.1966A>G (p.Ile656Val) c.1873A>G (p.Ile625Val) c.1906A>G (p.Ile636Val) c.1474A>G (p.Ile492Val) | |
3 | g.119413895A>T | CA354048017 | ARHGAP31 | c.1966A>T (p.Ile656Phe) c.1873A>T (p.Ile625Phe) c.1906A>T (p.Ile636Phe) c.1474A>T (p.Ile492Phe) | |
3 | g.119413896T>A | CA354048019 | ARHGAP31 | c.1967T>A (p.Ile656Asn) c.1874T>A (p.Ile625Asn) c.1907T>A (p.Ile636Asn) c.1475T>A (p.Ile492Asn) | |
3 | g.119413896T>C | CA354048020 | ARHGAP31 | c.1967T>C (p.Ile656Thr) c.1874T>C (p.Ile625Thr) c.1907T>C (p.Ile636Thr) c.1475T>C (p.Ile492Thr) | |
3 | g.119413896T>G | CA354048021 | ARHGAP31 | c.1967T>G (p.Ile656Ser) c.1874T>G (p.Ile625Ser) c.1907T>G (p.Ile636Ser) c.1475T>G (p.Ile492Ser) | |
3 | g.119413897T>A | CA435411340 | ARHGAP31 | c.1968T>A (p.Ile656=) c.1875T>A (p.Ile625=) c.1908T>A (p.Ile636=) c.1476T>A (p.Ile492=) | |
3 | g.119413897T>C | CA435411341 | ARHGAP31 | c.1968T>C (p.Ile656=) c.1875T>C (p.Ile625=) c.1908T>C (p.Ile636=) c.1476T>C (p.Ile492=) | |
3 | g.119413897T>G | CA354048022 | ARHGAP31 | c.1968T>G (p.Ile656Met) c.1875T>G (p.Ile625Met) c.1908T>G (p.Ile636Met) c.1476T>G (p.Ile492Met) | |
3 | g.119413898C>A | CA354048024 | ARHGAP31 | c.1969C>A (p.Gln657Lys) c.1876C>A (p.Gln626Lys) c.1909C>A (p.Gln637Lys) c.1477C>A (p.Gln493Lys) | |
3 | g.119413898C>G | CA354048026 | ARHGAP31 | c.1969C>G (p.Gln657Glu) c.1876C>G (p.Gln626Glu) c.1909C>G (p.Gln637Glu) c.1477C>G (p.Gln493Glu) | |
3 | g.119413898C>T | CA354048028 | ARHGAP31 | c.1969C>T (p.Gln657Ter) c.1876C>T (p.Gln626Ter) c.1909C>T (p.Gln637Ter) c.1477C>T (p.Gln493Ter) | |
3 | g.119413899A>C | CA354048035 | ARHGAP31 | c.1970A>C (p.Gln657Pro) c.1877A>C (p.Gln626Pro) c.1910A>C (p.Gln637Pro) c.1478A>C (p.Gln493Pro) | |
3 | g.119413899A>G | CA354048037 | ARHGAP31 | c.1970A>G (p.Gln657Arg) c.1877A>G (p.Gln626Arg) c.1910A>G (p.Gln637Arg) c.1478A>G (p.Gln493Arg) | |
3 | g.119413899A>T | CA354048036 | ARHGAP31 | c.1970A>T (p.Gln657Leu) c.1877A>T (p.Gln626Leu) c.1910A>T (p.Gln637Leu) c.1478A>T (p.Gln493Leu) | |
3 | g.119413900A>C | CA354048038 | ARHGAP31 | c.1971A>C (p.Gln657His) c.1878A>C (p.Gln626His) c.1911A>C (p.Gln637His) c.1479A>C (p.Gln493His) | gnomAD v4 |
3 | g.119413900A>G | CA435411347 | ARHGAP31 | c.1971A>G (p.Gln657=) c.1878A>G (p.Gln626=) c.1911A>G (p.Gln637=) c.1479A>G (p.Gln493=) | gnomAD v4 |
3 | g.119413900A>T | CA354048039 | ARHGAP31 | c.1971A>T (p.Gln657His) c.1878A>T (p.Gln626His) c.1911A>T (p.Gln637His) c.1479A>T (p.Gln493His) | |
3 | g.119413901C>A | CA354048041 | ARHGAP31 | c.1972C>A (p.Gln658Lys) c.1879C>A (p.Gln627Lys) c.1912C>A (p.Gln638Lys) c.1480C>A (p.Gln494Lys) | COSMIC |
3 | g.119413901C>G | CA354048046 | ARHGAP31 | c.1972C>G (p.Gln658Glu) c.1879C>G (p.Gln627Glu) c.1912C>G (p.Gln638Glu) c.1480C>G (p.Gln494Glu) | |
3 | g.119413901C>T | CA354048047 | ARHGAP31 | c.1972C>T (p.Gln658Ter) c.1879C>T (p.Gln627Ter) c.1912C>T (p.Gln638Ter) c.1480C>T (p.Gln494Ter) | |
3 | g.119413902A>C | CA354048052 | ARHGAP31 | c.1973A>C (p.Gln658Pro) c.1880A>C (p.Gln627Pro) c.1913A>C (p.Gln638Pro) c.1481A>C (p.Gln494Pro) | |
3 | g.119413902A>G | CA354048053 | ARHGAP31 | c.1973A>G (p.Gln658Arg) c.1880A>G (p.Gln627Arg) c.1913A>G (p.Gln638Arg) c.1481A>G (p.Gln494Arg) | |
3 | g.119413902A>T | CA354048054 | ARHGAP31 | c.1973A>T (p.Gln658Leu) c.1880A>T (p.Gln627Leu) c.1913A>T (p.Gln638Leu) c.1481A>T (p.Gln494Leu) | |
3 | g.119413903G>A | CA435411350 | ARHGAP31 | c.1974G>A (p.Gln658=) c.1881G>A (p.Gln627=) c.1914G>A (p.Gln638=) c.1482G>A (p.Gln494=) | |
3 | g.119413903G>C | CA354048055 | ARHGAP31 | c.1974G>C (p.Gln658His) c.1881G>C (p.Gln627His) c.1914G>C (p.Gln638His) c.1482G>C (p.Gln494His) | |
3 | g.119413903G>T | CA354048056 | ARHGAP31 | c.1974G>T (p.Gln658His) c.1881G>T (p.Gln627His) c.1914G>T (p.Gln638His) c.1482G>T (p.Gln494His) | |
3 | g.119413904G>A | CA354048063 | ARHGAP31 | c.1975G>A (p.Glu659Lys) c.1882G>A (p.Glu628Lys) c.1915G>A (p.Glu639Lys) c.1483G>A (p.Glu495Lys) | |
3 | g.119413904G>C | CA354048067 | ARHGAP31 | c.1975G>C (p.Glu659Gln) c.1882G>C (p.Glu628Gln) c.1915G>C (p.Glu639Gln) c.1483G>C (p.Glu495Gln) | |
3 | g.119413904G>T | CA354048058 | ARHGAP31 | c.1975G>T (p.Glu659Ter) c.1882G>T (p.Glu628Ter) c.1915G>T (p.Glu639Ter) c.1483G>T (p.Glu495Ter) | |
3 | g.119413905A>C | CA354048072 | ARHGAP31 | c.1976A>C (p.Glu659Ala) c.1883A>C (p.Glu628Ala) c.1916A>C (p.Glu639Ala) c.1484A>C (p.Glu495Ala) | |
3 | g.119413905A>G | CA354048074 | ARHGAP31 | c.1976A>G (p.Glu659Gly) c.1883A>G (p.Glu628Gly) c.1916A>G (p.Glu639Gly) c.1484A>G (p.Glu495Gly) | |
3 | g.119413905A>T | CA354048075 | ARHGAP31 | c.1976A>T (p.Glu659Val) c.1883A>T (p.Glu628Val) c.1916A>T (p.Glu639Val) c.1484A>T (p.Glu495Val) | |
3 | g.119413906G>A | CA435411354 | ARHGAP31 | c.1977G>A (p.Glu659=) c.1884G>A (p.Glu628=) c.1917G>A (p.Glu639=) c.1485G>A (p.Glu495=) | |
3 | g.119413906G>C | CA354048076 | ARHGAP31 | c.1977G>C (p.Glu659Asp) c.1884G>C (p.Glu628Asp) c.1917G>C (p.Glu639Asp) c.1485G>C (p.Glu495Asp) | |
3 | g.119413906G>T | CA354048077 | ARHGAP31 | c.1977G>T (p.Glu659Asp) c.1884G>T (p.Glu628Asp) c.1917G>T (p.Glu639Asp) c.1485G>T (p.Glu495Asp) | |
3 | g.119413907C>A | CA81697274 | ARHGAP31 | c.1978C>A (p.Leu660Met) c.1885C>A (p.Leu629Met) c.1918C>A (p.Leu640Met) c.1486C>A (p.Leu496Met) | dbSNP gnomAD v4 |
3 | g.119413907C= | CA1396548472 | ARHGAP31 | c.1978C= (p.Leu660=) c.1885C= (p.Leu629=) c.1918C= (p.Leu640=) c.1486C= (p.Leu496=) | |
3 | g.119413907C>G | CA354048078 | ARHGAP31 | c.1978C>G (p.Leu660Val) c.1885C>G (p.Leu629Val) c.1918C>G (p.Leu640Val) c.1486C>G (p.Leu496Val) | |
3 | g.119413907C>T | CA435411358 | ARHGAP31 | c.1978C>T (p.Leu660=) c.1885C>T (p.Leu629=) c.1918C>T (p.Leu640=) c.1486C>T (p.Leu496=) | |
3 | g.119413908T>A | CA354048081 | ARHGAP31 | c.1979T>A (p.Leu660Gln) c.1886T>A (p.Leu629Gln) c.1919T>A (p.Leu640Gln) c.1487T>A (p.Leu496Gln) | |
3 | g.119413908T>C | CA354048083 | ARHGAP31 | c.1979T>C (p.Leu660Pro) c.1886T>C (p.Leu629Pro) c.1919T>C (p.Leu640Pro) c.1487T>C (p.Leu496Pro) | |
3 | g.119413908T>G | CA354048085 | ARHGAP31 | c.1979T>G (p.Leu660Arg) c.1886T>G (p.Leu629Arg) c.1919T>G (p.Leu640Arg) c.1487T>G (p.Leu496Arg) | |
3 | g.119413909G>A | CA435411359 | ARHGAP31 | c.1980G>A (p.Leu660=) c.1887G>A (p.Leu629=) c.1920G>A (p.Leu640=) c.1488G>A (p.Leu496=) | |
3 | g.119413909G>C | CA435411360 | ARHGAP31 | c.1980G>C (p.Leu660=) c.1887G>C (p.Leu629=) c.1920G>C (p.Leu640=) c.1488G>C (p.Leu496=) | |
3 | g.119413909G>T | CA435411361 | ARHGAP31 | c.1980G>T (p.Leu660=) c.1887G>T (p.Leu629=) c.1920G>T (p.Leu640=) c.1488G>T (p.Leu496=) | |
3 | g.119413910A= | CA1396548473 | ARHGAP31 | c.1981A= (p.Lys661=) c.1888A= (p.Lys630=) c.1921A= (p.Lys641=) c.1489A= (p.Lys497=) | |
3 | g.119413910A>C | CA354048088 | ARHGAP31 | c.1981A>C (p.Lys661Gln) c.1888A>C (p.Lys630Gln) c.1921A>C (p.Lys641Gln) c.1489A>C (p.Lys497Gln) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.119413910A>G | CA354048090 | ARHGAP31 | c.1981A>G (p.Lys661Glu) c.1888A>G (p.Lys630Glu) c.1921A>G (p.Lys641Glu) c.1489A>G (p.Lys497Glu) | COSMIC |
3 | g.119413910A>T | CA354048093 | ARHGAP31 | c.1981A>T (p.Lys661Ter) c.1888A>T (p.Lys630Ter) c.1921A>T (p.Lys641Ter) c.1489A>T (p.Lys497Ter) | |
3 | g.119413911A>C | CA354048104 | ARHGAP31 | c.1982A>C (p.Lys661Thr) c.1889A>C (p.Lys630Thr) c.1922A>C (p.Lys641Thr) c.1490A>C (p.Lys497Thr) | |
3 | g.119413911A>G | CA354048102 | ARHGAP31 | c.1982A>G (p.Lys661Arg) c.1889A>G (p.Lys630Arg) c.1922A>G (p.Lys641Arg) c.1490A>G (p.Lys497Arg) | |
3 | g.119413911A>T | CA354048096 | ARHGAP31 | c.1982A>T (p.Lys661Ile) c.1889A>T (p.Lys630Ile) c.1922A>T (p.Lys641Ile) c.1490A>T (p.Lys497Ile) | |
3 | g.119413912A= | CA1396548474 | ARHGAP31 | c.1983A= (p.Lys661=) c.1890A= (p.Lys630=) c.1923A= (p.Lys641=) c.1491A= (p.Lys497=) | |
3 | g.119413912A>C | CA2553946 | ARHGAP31 | c.1983A>C (p.Lys661Asn) c.1890A>C (p.Lys630Asn) c.1923A>C (p.Lys641Asn) c.1491A>C (p.Lys497Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.119413912A>G | CA435411365 | ARHGAP31 | c.1983A>G (p.Lys661=) c.1890A>G (p.Lys630=) c.1923A>G (p.Lys641=) c.1491A>G (p.Lys497=) | |
3 | g.119413912A>T | CA354048111 | ARHGAP31 | c.1983A>T (p.Lys661Asn) c.1890A>T (p.Lys630Asn) c.1923A>T (p.Lys641Asn) c.1491A>T (p.Lys497Asn) | |
3 | g.119413913A= | CA1396548475 | ARHGAP31 | c.1984A= (p.Ile662=) c.1891A= (p.Ile631=) c.1924A= (p.Ile642=) c.1492A= (p.Ile498=) | |
3 | g.119413913A>C | CA354048114 | ARHGAP31 | c.1984A>C (p.Ile662Leu) c.1891A>C (p.Ile631Leu) c.1924A>C (p.Ile642Leu) c.1492A>C (p.Ile498Leu) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.119413913A>G | CA354048115 | ARHGAP31 | c.1984A>G (p.Ile662Val) c.1891A>G (p.Ile631Val) c.1924A>G (p.Ile642Val) c.1492A>G (p.Ile498Val) | |
3 | g.119413913A>T | CA354048117 | ARHGAP31 | c.1984A>T (p.Ile662Phe) c.1891A>T (p.Ile631Phe) c.1924A>T (p.Ile642Phe) c.1492A>T (p.Ile498Phe) | |
3 | g.119413914T>A | CA354048119 | ARHGAP31 | c.1985T>A (p.Ile662Asn) c.1892T>A (p.Ile631Asn) c.1925T>A (p.Ile642Asn) c.1493T>A (p.Ile498Asn) | gnomAD v4 |
3 | g.119413914T>C | CA354048121 | ARHGAP31 | c.1985T>C (p.Ile662Thr) c.1892T>C (p.Ile631Thr) c.1925T>C (p.Ile642Thr) c.1493T>C (p.Ile498Thr) | |
3 | g.119413914T>G | CA354048123 | ARHGAP31 | c.1985T>G (p.Ile662Ser) c.1892T>G (p.Ile631Ser) c.1925T>G (p.Ile642Ser) c.1493T>G (p.Ile498Ser) | |
3 | g.119413915C>A | CA435411366 | ARHGAP31 | c.1986C>A (p.Ile662=) c.1893C>A (p.Ile631=) c.1926C>A (p.Ile642=) c.1494C>A (p.Ile498=) | |
3 | g.119413915C>G | CA354048126 | ARHGAP31 | c.1986C>G (p.Ile662Met) c.1893C>G (p.Ile631Met) c.1926C>G (p.Ile642Met) c.1494C>G (p.Ile498Met) | |
3 | g.119413915C>T | CA435411369 | ARHGAP31 | c.1986C>T (p.Ile662=) c.1893C>T (p.Ile631=) c.1926C>T (p.Ile642=) c.1494C>T (p.Ile498=) | gnomAD v4 |
3 | g.119413916A>C | CA354048127 | ARHGAP31 | c.1987A>C (p.Ile663Leu) c.1894A>C (p.Ile632Leu) c.1927A>C (p.Ile643Leu) c.1495A>C (p.Ile499Leu) | |
3 | g.119413916A>G | CA354048128 | ARHGAP31 | c.1987A>G (p.Ile663Val) c.1894A>G (p.Ile632Val) c.1927A>G (p.Ile643Val) c.1495A>G (p.Ile499Val) | |
3 | g.119413916A>T | CA354048129 | ARHGAP31 | c.1987A>T (p.Ile663Phe) c.1894A>T (p.Ile632Phe) c.1927A>T (p.Ile643Phe) c.1495A>T (p.Ile499Phe) | gnomAD v4 |
3 | g.119413917T>A | CA354048132 | ARHGAP31 | c.1988T>A (p.Ile663Asn) c.1895T>A (p.Ile632Asn) c.1928T>A (p.Ile643Asn) c.1496T>A (p.Ile499Asn) | gnomAD v4 |
3 | g.119413917T>C | CA81697278 | ARHGAP31 | c.1988T>C (p.Ile663Thr) c.1895T>C (p.Ile632Thr) c.1928T>C (p.Ile643Thr) c.1496T>C (p.Ile499Thr) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.119413917T>G | CA354048135 | ARHGAP31 | c.1988T>G (p.Ile663Ser) c.1895T>G (p.Ile632Ser) c.1928T>G (p.Ile643Ser) c.1496T>G (p.Ile499Ser) | |
3 | g.119413917T= | CA1396548476 | ARHGAP31 | c.1988T= (p.Ile663=) c.1895T= (p.Ile632=) c.1928T= (p.Ile643=) c.1496T= (p.Ile499=) | |
3 | g.119413918T>A | CA435411372 | ARHGAP31 | c.1989T>A (p.Ile663=) c.1896T>A (p.Ile632=) c.1929T>A (p.Ile643=) c.1497T>A (p.Ile499=) | |
3 | g.119413918T>C | CA435411374 | ARHGAP31 | c.1989T>C (p.Ile663=) c.1896T>C (p.Ile632=) c.1929T>C (p.Ile643=) c.1497T>C (p.Ile499=) | |
3 | g.119413918T>G | CA354048139 | ARHGAP31 | c.1989T>G (p.Ile663Met) c.1896T>G (p.Ile632Met) c.1929T>G (p.Ile643Met) c.1497T>G (p.Ile499Met) | |
3 | g.119413919del | CA2667110268 | ARHGAP31 | c.1990del (p.Glu664AsnfsTer14) c.1897del (p.Glu633AsnfsTer14) c.1930del (p.Glu644AsnfsTer14) c.1498del (p.Glu500AsnfsTer14) | gnomAD v4 |
3 | g.119413919G>A | CA354048147 | ARHGAP31 | c.1990G>A (p.Glu664Lys) c.1897G>A (p.Glu633Lys) c.1930G>A (p.Glu644Lys) c.1498G>A (p.Glu500Lys) | |
3 | g.119413919G>C | CA354048144 | ARHGAP31 | c.1990G>C (p.Glu664Gln) c.1897G>C (p.Glu633Gln) c.1930G>C (p.Glu644Gln) c.1498G>C (p.Glu500Gln) | |
3 | g.119413919G>T | CA354048146 | ARHGAP31 | c.1990G>T (p.Glu664Ter) c.1897G>T (p.Glu633Ter) c.1930G>T (p.Glu644Ter) c.1498G>T (p.Glu500Ter) | |
3 | g.119413920A>C | CA354048148 | ARHGAP31 | c.1991A>C (p.Glu664Ala) c.1898A>C (p.Glu633Ala) c.1931A>C (p.Glu644Ala) c.1499A>C (p.Glu500Ala) | |
3 | g.119413920A>G | CA354048149 | ARHGAP31 | c.1991A>G (p.Glu664Gly) c.1898A>G (p.Glu633Gly) c.1931A>G (p.Glu644Gly) c.1499A>G (p.Glu500Gly) | |
3 | g.119413920A>T | CA354048150 | ARHGAP31 | c.1991A>T (p.Glu664Val) c.1898A>T (p.Glu633Val) c.1931A>T (p.Glu644Val) c.1499A>T (p.Glu500Val) | |
3 | g.119413921A>C | CA354048152 | ARHGAP31 | c.1992A>C (p.Glu664Asp) c.1899A>C (p.Glu633Asp) c.1932A>C (p.Glu644Asp) c.1500A>C (p.Glu500Asp) | |
3 | g.119413921A>G | CA435411379 | ARHGAP31 | c.1992A>G (p.Glu664=) c.1899A>G (p.Glu633=) c.1932A>G (p.Glu644=) c.1500A>G (p.Glu500=) | |
3 | g.119413921A>T | CA354048161 | ARHGAP31 | c.1992A>T (p.Glu664Asp) c.1899A>T (p.Glu633Asp) c.1932A>T (p.Glu644Asp) c.1500A>T (p.Glu500Asp) | |
3 | g.119413922T>A | CA354048166 | ARHGAP31 | c.1993T>A (p.Ser665Thr) c.1900T>A (p.Ser634Thr) c.1933T>A (p.Ser645Thr) c.1501T>A (p.Ser501Thr) | |
3 | g.119413922T>C | CA354048169 | ARHGAP31 | c.1993T>C (p.Ser665Pro) c.1900T>C (p.Ser634Pro) c.1933T>C (p.Ser645Pro) c.1501T>C (p.Ser501Pro) | |
3 | g.119413922T>G | CA354048170 | ARHGAP31 | c.1993T>G (p.Ser665Ala) c.1900T>G (p.Ser634Ala) c.1933T>G (p.Ser645Ala) c.1501T>G (p.Ser501Ala) | |
3 | g.119413923C>A | CA354048171 | ARHGAP31 | c.1994C>A (p.Ser665Tyr) c.1901C>A (p.Ser634Tyr) c.1934C>A (p.Ser645Tyr) c.1502C>A (p.Ser501Tyr) | COSMIC |
3 | g.119413923C>G | CA354048172 | ARHGAP31 | c.1994C>G (p.Ser665Cys) c.1901C>G (p.Ser634Cys) c.1934C>G (p.Ser645Cys) c.1502C>G (p.Ser501Cys) | |
3 | g.119413923C>T | CA354048173 | ARHGAP31 | c.1994C>T (p.Ser665Phe) c.1901C>T (p.Ser634Phe) c.1934C>T (p.Ser645Phe) c.1502C>T (p.Ser501Phe) | |
3 | g.119413924T>A | CA435411384 | ARHGAP31 | c.1995T>A (p.Ser665=) c.1902T>A (p.Ser634=) c.1935T>A (p.Ser645=) c.1503T>A (p.Ser501=) | |
3 | g.119413924T>C | CA435411386 | ARHGAP31 | c.1995T>C (p.Ser665=) c.1902T>C (p.Ser634=) c.1935T>C (p.Ser645=) c.1503T>C (p.Ser501=) | |
3 | g.119413924T>G | CA435411387 | ARHGAP31 | c.1995T>G (p.Ser665=) c.1902T>G (p.Ser634=) c.1935T>G (p.Ser645=) c.1503T>G (p.Ser501=) | |
3 | g.119413925G>A | CA354048175 | ARHGAP31 | c.1996G>A (p.Glu666Lys) c.1903G>A (p.Glu635Lys) c.1936G>A (p.Glu646Lys) c.1504G>A (p.Glu502Lys) | |
3 | g.119413925G>C | CA354048177 | ARHGAP31 | c.1996G>C (p.Glu666Gln) c.1903G>C (p.Glu635Gln) c.1936G>C (p.Glu646Gln) c.1504G>C (p.Glu502Gln) | |
3 | g.119413925G>T | CA354048176 | ARHGAP31 | c.1996G>T (p.Glu666Ter) c.1903G>T (p.Glu635Ter) c.1936G>T (p.Glu646Ter) c.1504G>T (p.Glu502Ter) | |
3 | g.119413926A>C | CA354048178 | ARHGAP31 | c.1997A>C (p.Glu666Ala) c.1904A>C (p.Glu635Ala) c.1937A>C (p.Glu646Ala) c.1505A>C (p.Glu502Ala) | |
3 | g.119413926A>G | CA354048180 | ARHGAP31 | c.1997A>G (p.Glu666Gly) c.1904A>G (p.Glu635Gly) c.1937A>G (p.Glu646Gly) c.1505A>G (p.Glu502Gly) | |
3 | g.119413926A>T | CA354048182 | ARHGAP31 | c.1997A>T (p.Glu666Val) c.1904A>T (p.Glu635Val) c.1937A>T (p.Glu646Val) c.1505A>T (p.Glu502Val) | |
3 | g.119413927G>A | CA435411393 | ARHGAP31 | c.1998G>A (p.Glu666=) c.1905G>A (p.Glu635=) c.1938G>A (p.Glu646=) c.1506G>A (p.Glu502=) | |
3 | g.119413927G>C | CA354048185 | ARHGAP31 | c.1998G>C (p.Glu666Asp) c.1905G>C (p.Glu635Asp) c.1938G>C (p.Glu646Asp) c.1506G>C (p.Glu502Asp) | |
3 | g.119413927G>T | CA354048186 | ARHGAP31 | c.1998G>T (p.Glu666Asp) c.1905G>T (p.Glu635Asp) c.1938G>T (p.Glu646Asp) c.1506G>T (p.Glu502Asp) | |
3 | g.119413928G>A | CA354048190 | ARHGAP31 | c.1999G>A (p.Glu667Lys) c.1906G>A (p.Glu636Lys) c.1939G>A (p.Glu647Lys) c.1507G>A (p.Glu503Lys) | |
3 | g.119413928G>C | CA354048193 | ARHGAP31 | c.1999G>C (p.Glu667Gln) c.1906G>C (p.Glu636Gln) c.1939G>C (p.Glu647Gln) c.1507G>C (p.Glu503Gln) | |
3 | g.119413928G>T | CA354048194 | ARHGAP31 | c.1999G>T (p.Glu667Ter) c.1906G>T (p.Glu636Ter) c.1939G>T (p.Glu647Ter) c.1507G>T (p.Glu503Ter) | |
3 | g.119413929A>C | CA354048195 | ARHGAP31 | c.2000A>C (p.Glu667Ala) c.1907A>C (p.Glu636Ala) c.1940A>C (p.Glu647Ala) c.1508A>C (p.Glu503Ala) | |
3 | g.119413929A>G | CA354048196 | ARHGAP31 | c.2000A>G (p.Glu667Gly) c.1907A>G (p.Glu636Gly) c.1940A>G (p.Glu647Gly) c.1508A>G (p.Glu503Gly) | |
3 | g.119413929A>T | CA354048197 | ARHGAP31 | c.2000A>T (p.Glu667Val) c.1907A>T (p.Glu636Val) c.1940A>T (p.Glu647Val) c.1508A>T (p.Glu503Val) | |
3 | g.119413930G>A | CA435411401 | ARHGAP31 | c.2001G>A (p.Glu667=) c.1908G>A (p.Glu636=) c.1941G>A (p.Glu647=) c.1509G>A (p.Glu503=) | |
3 | g.119413930G>C | CA354048201 | ARHGAP31 | c.2001G>C (p.Glu667Asp) c.1908G>C (p.Glu636Asp) c.1941G>C (p.Glu647Asp) c.1509G>C (p.Glu503Asp) | |
3 | g.119413930G>T | CA354048199 | ARHGAP31 | c.2001G>T (p.Glu667Asp) c.1908G>T (p.Glu636Asp) c.1941G>T (p.Glu647Asp) c.1509G>T (p.Glu503Asp) | |
3 | g.119413931G>A | CA354048204 | ARHGAP31 | c.2002G>A (p.Glu668Lys) c.1909G>A (p.Glu637Lys) c.1942G>A (p.Glu648Lys) c.1510G>A (p.Glu504Lys) | |
3 | g.119413931G>C | CA354048208 | ARHGAP31 | c.2002G>C (p.Glu668Gln) c.1909G>C (p.Glu637Gln) c.1942G>C (p.Glu648Gln) c.1510G>C (p.Glu504Gln) | |
3 | g.119413931G>T | CA354048211 | ARHGAP31 | c.2002G>T (p.Glu668Ter) c.1909G>T (p.Glu637Ter) c.1942G>T (p.Glu648Ter) c.1510G>T (p.Glu504Ter) | |
3 | g.119413932A= | CA1396548477 | ARHGAP31 | c.2003A= (p.Glu668=) c.1910A= (p.Glu637=) c.1943A= (p.Glu648=) c.1511A= (p.Glu504=) | |
3 | g.119413932A>C | CA354048214 | ARHGAP31 | c.2003A>C (p.Glu668Ala) c.1910A>C (p.Glu637Ala) c.1943A>C (p.Glu648Ala) c.1511A>C (p.Glu504Ala) | dbSNP |
3 | g.119413932A>G | CA354048216 | ARHGAP31 | c.2003A>G (p.Glu668Gly) c.1910A>G (p.Glu637Gly) c.1943A>G (p.Glu648Gly) c.1511A>G (p.Glu504Gly) | |
3 | g.119413932A>T | CA354048220 | ARHGAP31 | c.2003A>T (p.Glu668Val) c.1910A>T (p.Glu637Val) c.1943A>T (p.Glu648Val) c.1511A>T (p.Glu504Val) | |
3 | g.119413933G>A | CA435411405 | ARHGAP31 | c.2004G>A (p.Glu668=) c.1911G>A (p.Glu637=) c.1944G>A (p.Glu648=) c.1512G>A (p.Glu504=) | |
3 | g.119413933G>C | CA354048232 | ARHGAP31 | c.2004G>C (p.Glu668Asp) c.1911G>C (p.Glu637Asp) c.1944G>C (p.Glu648Asp) c.1512G>C (p.Glu504Asp) | |
3 | g.119413933G>T | CA354048227 | ARHGAP31 | c.2004G>T (p.Glu668Asp) c.1911G>T (p.Glu637Asp) c.1944G>T (p.Glu648Asp) c.1512G>T (p.Glu504Asp) | |
3 | g.119413934C>A | CA354048236 | ARHGAP31 | c.2005C>A (p.Leu669Ile) c.1912C>A (p.Leu638Ile) c.1945C>A (p.Leu649Ile) c.1513C>A (p.Leu505Ile) | |
3 | g.119413934C= | CA1396548478 | ARHGAP31 | c.2005C= (p.Leu669=) c.1912C= (p.Leu638=) c.1945C= (p.Leu649=) c.1513C= (p.Leu505=) | |
3 | g.119413934C>G | CA81697286 | ARHGAP31 | c.2005C>G (p.Leu669Val) c.1912C>G (p.Leu638Val) c.1945C>G (p.Leu649Val) c.1513C>G (p.Leu505Val) | dbSNP |
3 | g.119413934C>T | CA354048242 | ARHGAP31 | c.2005C>T (p.Leu669Phe) c.1912C>T (p.Leu638Phe) c.1945C>T (p.Leu649Phe) c.1513C>T (p.Leu505Phe) | gnomAD v4 |
3 | g.119413935T>A | CA354048246 | ARHGAP31 | c.2006T>A (p.Leu669His) c.1913T>A (p.Leu638His) c.1946T>A (p.Leu649His) c.1514T>A (p.Leu505His) | |
3 | g.119413935T>C | CA354048249 | ARHGAP31 | c.2006T>C (p.Leu669Pro) c.1913T>C (p.Leu638Pro) c.1946T>C (p.Leu649Pro) c.1514T>C (p.Leu505Pro) | |
3 | g.119413935T>G | CA354048252 | ARHGAP31 | c.2006T>G (p.Leu669Arg) c.1913T>G (p.Leu638Arg) c.1946T>G (p.Leu649Arg) c.1514T>G (p.Leu505Arg) | |
3 | g.119413936C>A | CA435411409 | ARHGAP31 | c.2007C>A (p.Leu669=) c.1914C>A (p.Leu638=) c.1947C>A (p.Leu649=) c.1515C>A (p.Leu505=) | |
3 | g.119413936C= | CA1396548479 | ARHGAP31 | c.2007C= (p.Leu669=) c.1914C= (p.Leu638=) c.1947C= (p.Leu649=) c.1515C= (p.Leu505=) | |
3 | g.119413936C>G | CA81697288 | ARHGAP31 | c.2007C>G (p.Leu669=) c.1914C>G (p.Leu638=) c.1947C>G (p.Leu649=) c.1515C>G (p.Leu505=) | dbSNP gnomAD v4 |
3 | g.119413936C>T | CA435411411 | ARHGAP31 | c.2007C>T (p.Leu669=) c.1914C>T (p.Leu638=) c.1947C>T (p.Leu649=) c.1515C>T (p.Leu505=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.119413937T>A | CA354048263 | ARHGAP31 | c.2008T>A (p.Ser670Thr) c.1915T>A (p.Ser639Thr) c.1948T>A (p.Ser650Thr) c.1516T>A (p.Ser506Thr) | |
3 | g.119413937T>C | CA354048257 | ARHGAP31 | c.2008T>C (p.Ser670Pro) c.1915T>C (p.Ser639Pro) c.1948T>C (p.Ser650Pro) c.1516T>C (p.Ser506Pro) | |
3 | g.119413937T>G | CA354048260 | ARHGAP31 | c.2008T>G (p.Ser670Ala) c.1915T>G (p.Ser639Ala) c.1948T>G (p.Ser650Ala) c.1516T>G (p.Ser506Ala) | |
3 | g.119413938C>A | CA354048266 | ARHGAP31 | c.2009C>A (p.Ser670Ter) c.1916C>A (p.Ser639Ter) c.1949C>A (p.Ser650Ter) c.1517C>A (p.Ser506Ter) | |
3 | g.119413938C>G | CA354048269 | ARHGAP31 | c.2009C>G (p.Ser670Ter) c.1916C>G (p.Ser639Ter) c.1949C>G (p.Ser650Ter) c.1517C>G (p.Ser506Ter) | |
3 | g.119413938C>T | CA354048271 | ARHGAP31 | c.2009C>T (p.Ser670Leu) c.1916C>T (p.Ser639Leu) c.1949C>T (p.Ser650Leu) c.1517C>T (p.Ser506Leu) | |
3 | g.119413939A= | CA1396548480 | ARHGAP31 | c.2010A= (p.Ser670=) c.1917A= (p.Ser639=) c.1950A= (p.Ser650=) c.1518A= (p.Ser506=) | |
3 | g.119413939A>C | CA435411423 | ARHGAP31 | c.2010A>C (p.Ser670=) c.1917A>C (p.Ser639=) c.1950A>C (p.Ser650=) c.1518A>C (p.Ser506=) | gnomAD v4 |
3 | g.119413939A>G | CA435411422 | ARHGAP31 | c.2010A>G (p.Ser670=) c.1917A>G (p.Ser639=) c.1950A>G (p.Ser650=) c.1518A>G (p.Ser506=) | |
3 | g.119413939A>T | CA81697298 | ARHGAP31 | c.2010A>T (p.Ser670=) c.1917A>T (p.Ser639=) c.1950A>T (p.Ser650=) c.1518A>T (p.Ser506=) | dbSNP |
3 | g.119413940T>A | CA354048274 | ARHGAP31 | c.2011T>A (p.Ser671Thr) c.1918T>A (p.Ser640Thr) c.1951T>A (p.Ser651Thr) c.1519T>A (p.Ser507Thr) | |
3 | g.119413940T>C | CA354048275 | ARHGAP31 | c.2011T>C (p.Ser671Pro) c.1918T>C (p.Ser640Pro) c.1951T>C (p.Ser651Pro) c.1519T>C (p.Ser507Pro) | |
3 | g.119413940T>G | CA354048276 | ARHGAP31 | c.2011T>G (p.Ser671Ala) c.1918T>G (p.Ser640Ala) c.1951T>G (p.Ser651Ala) c.1519T>G (p.Ser507Ala) | |
3 | g.119413941C>A | CA354048278 | ARHGAP31 | c.2012C>A (p.Ser671Ter) c.1919C>A (p.Ser640Ter) c.1952C>A (p.Ser651Ter) c.1520C>A (p.Ser507Ter) | |
3 | g.119413941C= | CA1396548481 | ARHGAP31 | c.2012C= (p.Ser671=) c.1919C= (p.Ser640=) c.1952C= (p.Ser651=) c.1520C= (p.Ser507=) | |
3 | g.119413941C>G | CA354048280 | ARHGAP31 | c.2012C>G (p.Ser671Trp) c.1919C>G (p.Ser640Trp) c.1952C>G (p.Ser651Trp) c.1520C>G (p.Ser507Trp) | |
3 | g.119413941C>T | CA354048283 | ARHGAP31 | c.2012C>T (p.Ser671Leu) c.1919C>T (p.Ser640Leu) c.1952C>T (p.Ser651Leu) c.1520C>T (p.Ser507Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119413942G>A | CA435411432 | ARHGAP31 | c.2013G>A (p.Ser671=) c.1920G>A (p.Ser640=) c.1953G>A (p.Ser651=) c.1521G>A (p.Ser507=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.119413942G>C | CA435411433 | ARHGAP31 | c.2013G>C (p.Ser671=) c.1920G>C (p.Ser640=) c.1953G>C (p.Ser651=) c.1521G>C (p.Ser507=) | |
3 | g.119413942G= | CA1396548482 | ARHGAP31 | c.2013G= (p.Ser671=) c.1920G= (p.Ser640=) c.1953G= (p.Ser651=) c.1521G= (p.Ser507=) | |
3 | g.119413942G>T | CA2553947 | ARHGAP31 | c.2013G>T (p.Ser671=) c.1920G>T (p.Ser640=) c.1953G>T (p.Ser651=) c.1521G>T (p.Ser507=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119413943T>A | CA354048288 | ARHGAP31 | c.2014T>A (p.Leu672Met) c.1921T>A (p.Leu641Met) c.1954T>A (p.Leu652Met) c.1522T>A (p.Leu508Met) | |
3 | g.119413943T>C | CA435411434 | ARHGAP31 | c.2014T>C (p.Leu672=) c.1921T>C (p.Leu641=) c.1954T>C (p.Leu652=) c.1522T>C (p.Leu508=) | |
3 | g.119413943T>G | CA354048290 | ARHGAP31 | c.2014T>G (p.Leu672Val) c.1921T>G (p.Leu641Val) c.1954T>G (p.Leu652Val) c.1522T>G (p.Leu508Val) | |
3 | g.119413944T>A | CA354048294 | ARHGAP31 | c.2015T>A (p.Leu672Ter) c.1922T>A (p.Leu641Ter) c.1955T>A (p.Leu652Ter) c.1523T>A (p.Leu508Ter) | |
3 | g.119413944T>C | CA354048299 | ARHGAP31 | c.2015T>C (p.Leu672Ser) c.1922T>C (p.Leu641Ser) c.1955T>C (p.Leu652Ser) c.1523T>C (p.Leu508Ser) | |
3 | g.119413944T>G | CA354048295 | ARHGAP31 | c.2015T>G (p.Leu672Trp) c.1922T>G (p.Leu641Trp) c.1955T>G (p.Leu652Trp) c.1523T>G (p.Leu508Trp) | |
3 | g.119413945G>A | CA2553948 | ARHGAP31 | c.2016G>A (p.Leu672=) c.1923G>A (p.Leu641=) c.1956G>A (p.Leu652=) c.1524G>A (p.Leu508=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.119413945G>C | CA354048312 | ARHGAP31 | c.2016G>C (p.Leu672Phe) c.1923G>C (p.Leu641Phe) c.1956G>C (p.Leu652Phe) c.1524G>C (p.Leu508Phe) | |
3 | g.119413945G= | CA1396548483 | ARHGAP31 | c.2016G= (p.Leu672=) c.1923G= (p.Leu641=) c.1956G= (p.Leu652=) c.1524G= (p.Leu508=) | |
3 | g.119413945G>T | CA354048311 | ARHGAP31 | c.2016G>T (p.Leu672Phe) c.1923G>T (p.Leu641Phe) c.1956G>T (p.Leu652Phe) c.1524G>T (p.Leu508Phe) | |
3 | g.119413946C>A | CA354048313 | ARHGAP31 | c.2017C>A (p.Pro673Thr) c.1924C>A (p.Pro642Thr) c.1957C>A (p.Pro653Thr) c.1525C>A (p.Pro509Thr) | |
3 | g.119413946C>G | CA354048318 | ARHGAP31 | c.2017C>G (p.Pro673Ala) c.1924C>G (p.Pro642Ala) c.1957C>G (p.Pro653Ala) c.1525C>G (p.Pro509Ala) | |
3 | g.119413946C>T | CA354048319 | ARHGAP31 | c.2017C>T (p.Pro673Ser) c.1924C>T (p.Pro642Ser) c.1957C>T (p.Pro653Ser) c.1525C>T (p.Pro509Ser) | COSMIC |
3 | g.119413947C>A | CA354048325 | ARHGAP31 | c.2018C>A (p.Pro673Gln) c.1925C>A (p.Pro642Gln) c.1958C>A (p.Pro653Gln) c.1526C>A (p.Pro509Gln) | |
3 | g.119413947C>G | CA354048328 | ARHGAP31 | c.2018C>G (p.Pro673Arg) c.1925C>G (p.Pro642Arg) c.1958C>G (p.Pro653Arg) c.1526C>G (p.Pro509Arg) | |
3 | g.119413947C>T | CA354048330 | ARHGAP31 | c.2018C>T (p.Pro673Leu) c.1925C>T (p.Pro642Leu) c.1958C>T (p.Pro653Leu) c.1526C>T (p.Pro509Leu) | |
3 | g.119413948A= | CA1396548484 | ARHGAP31 | c.2019A= (p.Pro673=) c.1926A= (p.Pro642=) c.1959A= (p.Pro653=) c.1527A= (p.Pro509=) | |
3 | g.119413948A>C | CA435411443 | ARHGAP31 | c.2019A>C (p.Pro673=) c.1926A>C (p.Pro642=) c.1959A>C (p.Pro653=) c.1527A>C (p.Pro509=) | |
3 | g.119413948A>G | CA2553949 | ARHGAP31 | c.2019A>G (p.Pro673=) c.1926A>G (p.Pro642=) c.1959A>G (p.Pro653=) c.1527A>G (p.Pro509=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119413948A>T | CA435411444 | ARHGAP31 | c.2019A>T (p.Pro673=) c.1926A>T (p.Pro642=) c.1959A>T (p.Pro653=) c.1527A>T (p.Pro509=) | |
3 | g.119413949C>A | CA354048336 | ARHGAP31 | c.2020C>A (p.Pro674Thr) c.1927C>A (p.Pro643Thr) c.1960C>A (p.Pro654Thr) c.1528C>A (p.Pro510Thr) | gnomAD v4 COSMIC |
3 | g.119413949C= | CA1396548485 | ARHGAP31 | c.2020C= (p.Pro674=) c.1927C= (p.Pro643=) c.1960C= (p.Pro654=) c.1528C= (p.Pro510=) | |
3 | g.119413949C>G | CA354048339 | ARHGAP31 | c.2020C>G (p.Pro674Ala) c.1927C>G (p.Pro643Ala) c.1960C>G (p.Pro654Ala) c.1528C>G (p.Pro510Ala) | |
3 | g.119413949C>T | CA81697308 | ARHGAP31 | c.2020C>T (p.Pro674Ser) c.1927C>T (p.Pro643Ser) c.1960C>T (p.Pro654Ser) c.1528C>T (p.Pro510Ser) | dbSNP |
3 | g.119413950C>A | CA354048344 | ARHGAP31 | c.2021C>A (p.Pro674His) c.1928C>A (p.Pro643His) c.1961C>A (p.Pro654His) c.1529C>A (p.Pro510His) | |
3 | g.119413950C>G | CA354048351 | ARHGAP31 | c.2021C>G (p.Pro674Arg) c.1928C>G (p.Pro643Arg) c.1961C>G (p.Pro654Arg) c.1529C>G (p.Pro510Arg) | |
3 | g.119413950C>T | CA354048353 | ARHGAP31 | c.2021C>T (p.Pro674Leu) c.1928C>T (p.Pro643Leu) c.1961C>T (p.Pro654Leu) c.1529C>T (p.Pro510Leu) | ClinVar |
3 | g.119413951T>A | CA435411450 | ARHGAP31 | c.2022T>A (p.Pro674=) c.1929T>A (p.Pro643=) c.1962T>A (p.Pro654=) c.1530T>A (p.Pro510=) | |
3 | g.119413951T>C | CA435411448 | ARHGAP31 | c.2022T>C (p.Pro674=) c.1929T>C (p.Pro643=) c.1962T>C (p.Pro654=) c.1530T>C (p.Pro510=) | |
3 | g.119413951T>G | CA435411449 | ARHGAP31 | c.2022T>G (p.Pro674=) c.1929T>G (p.Pro643=) c.1962T>G (p.Pro654=) c.1530T>G (p.Pro510=) | |
3 | g.119413952C>A | CA354048363 | ARHGAP31 | c.2023C>A (p.Pro675Thr) c.1930C>A (p.Pro644Thr) c.1963C>A (p.Pro655Thr) c.1531C>A (p.Pro511Thr) | |
3 | g.119413952C>G | CA354048373 | ARHGAP31 | c.2023C>G (p.Pro675Ala) c.1930C>G (p.Pro644Ala) c.1963C>G (p.Pro655Ala) c.1531C>G (p.Pro511Ala) | |
3 | g.119413952C>T | CA354048370 | ARHGAP31 | c.2023C>T (p.Pro675Ser) c.1930C>T (p.Pro644Ser) c.1963C>T (p.Pro655Ser) c.1531C>T (p.Pro511Ser) | |
3 | g.119413953C>A | CA354048383 | ARHGAP31 | c.2024C>A (p.Pro675His) c.1931C>A (p.Pro644His) c.1964C>A (p.Pro655His) c.1532C>A (p.Pro511His) | |
3 | g.119413953C>G | CA354048387 | ARHGAP31 | c.2024C>G (p.Pro675Arg) c.1931C>G (p.Pro644Arg) c.1964C>G (p.Pro655Arg) c.1532C>G (p.Pro511Arg) | |
3 | g.119413953C>T | CA354048390 | ARHGAP31 | c.2024C>T (p.Pro675Leu) c.1931C>T (p.Pro644Leu) c.1964C>T (p.Pro655Leu) c.1532C>T (p.Pro511Leu) | |
3 | g.119413954T>A | CA435411455 | ARHGAP31 | c.2025T>A (p.Pro675=) c.1932T>A (p.Pro644=) c.1965T>A (p.Pro655=) c.1533T>A (p.Pro511=) | |
3 | g.119413954T>C | CA435411456 | ARHGAP31 | c.2025T>C (p.Pro675=) c.1932T>C (p.Pro644=) c.1965T>C (p.Pro655=) c.1533T>C (p.Pro511=) | |
3 | g.119413954T>G | CA435411457 | ARHGAP31 | c.2025T>G (p.Pro675=) c.1932T>G (p.Pro644=) c.1965T>G (p.Pro655=) c.1533T>G (p.Pro511=) | |
3 | g.119413955G>A | CA2553950 | ARHGAP31 | c.2026G>A (p.Ala676Thr) c.1933G>A (p.Ala645Thr) c.1966G>A (p.Ala656Thr) c.1534G>A (p.Ala512Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119413955G>C | CA354048394 | ARHGAP31 | c.2026G>C (p.Ala676Pro) c.1933G>C (p.Ala645Pro) c.1966G>C (p.Ala656Pro) c.1534G>C (p.Ala512Pro) | |
3 | g.119413955G= | CA1396548486 | ARHGAP31 | c.2026G= (p.Ala676=) c.1933G= (p.Ala645=) c.1966G= (p.Ala656=) c.1534G= (p.Ala512=) | |
3 | g.119413955G>T | CA354048398 | ARHGAP31 | c.2026G>T (p.Ala676Ser) c.1933G>T (p.Ala645Ser) c.1966G>T (p.Ala656Ser) c.1534G>T (p.Ala512Ser) | |
3 | g.119413956C>A | CA354048404 | ARHGAP31 | c.2027C>A (p.Ala676Asp) c.1934C>A (p.Ala645Asp) c.1967C>A (p.Ala656Asp) c.1535C>A (p.Ala512Asp) | dbSNP |
3 | g.119413956C>G | CA354048406 | ARHGAP31 | c.2027C>G (p.Ala676Gly) c.1934C>G (p.Ala645Gly) c.1967C>G (p.Ala656Gly) c.1535C>G (p.Ala512Gly) | |
3 | g.119413956C>T | CA354048416 | ARHGAP31 | c.2027C>T (p.Ala676Val) c.1934C>T (p.Ala645Val) c.1967C>T (p.Ala656Val) c.1535C>T (p.Ala512Val) | |
3 | g.119413957T>A | CA2553951 | ARHGAP31 | c.2028T>A (p.Ala676=) c.1935T>A (p.Ala645=) c.1968T>A (p.Ala656=) c.1536T>A (p.Ala512=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.119413957T>C | CA435411463 | ARHGAP31 | c.2028T>C (p.Ala676=) c.1935T>C (p.Ala645=) c.1968T>C (p.Ala656=) c.1536T>C (p.Ala512=) | gnomAD v4 |
3 | g.119413957T>G | CA435411465 | ARHGAP31 | c.2028T>G (p.Ala676=) c.1935T>G (p.Ala645=) c.1968T>G (p.Ala656=) c.1536T>G (p.Ala512=) | |
3 | g.119413957T= | CA1396548487 | ARHGAP31 | c.2028T= (p.Ala676=) c.1935T= (p.Ala645=) c.1968T= (p.Ala656=) c.1536T= (p.Ala512=) | |
3 | g.119413958C>A | CA354048422 | ARHGAP31 | c.2029C>A (p.Leu677Met) c.1936C>A (p.Leu646Met) c.1969C>A (p.Leu657Met) c.1537C>A (p.Leu513Met) | |
3 | g.119413958C>G | CA354048423 | ARHGAP31 | c.2029C>G (p.Leu677Val) c.1936C>G (p.Leu646Val) c.1969C>G (p.Leu657Val) c.1537C>G (p.Leu513Val) | |
3 | g.119413958C>T | CA435411466 | ARHGAP31 | c.2029C>T (p.Leu677=) c.1936C>T (p.Leu646=) c.1969C>T (p.Leu657=) c.1537C>T (p.Leu513=) | COSMIC |
3 | g.119413959T>A | CA354048424 | ARHGAP31 | c.2030T>A (p.Leu677Gln) c.1937T>A (p.Leu646Gln) c.1970T>A (p.Leu657Gln) c.1538T>A (p.Leu513Gln) | |
3 | g.119413959T>C | CA354048425 | ARHGAP31 | c.2030T>C (p.Leu677Pro) c.1937T>C (p.Leu646Pro) c.1970T>C (p.Leu657Pro) c.1538T>C (p.Leu513Pro) | |
3 | g.119413959T>G | CA354048428 | ARHGAP31 | c.2030T>G (p.Leu677Arg) c.1937T>G (p.Leu646Arg) c.1970T>G (p.Leu657Arg) c.1538T>G (p.Leu513Arg) | gnomAD v4 |
3 | g.119413960G>A | CA435411467 | ARHGAP31 | c.2031G>A (p.Leu677=) c.1938G>A (p.Leu646=) c.1971G>A (p.Leu657=) c.1539G>A (p.Leu513=) | |
3 | g.119413960G>C | CA435411468 | ARHGAP31 | c.2031G>C (p.Leu677=) c.1938G>C (p.Leu646=) c.1971G>C (p.Leu657=) c.1539G>C (p.Leu513=) | |
3 | g.119413960G>T | CA435411470 | ARHGAP31 | c.2031G>T (p.Leu677=) c.1938G>T (p.Leu646=) c.1971G>T (p.Leu657=) c.1539G>T (p.Leu513=) | |
3 | g.119413961A>C | CA354048436 | ARHGAP31 | c.2032A>C (p.Lys678Gln) c.1939A>C (p.Lys647Gln) c.1972A>C (p.Lys658Gln) c.1540A>C (p.Lys514Gln) | |
3 | g.119413961A>G | CA354048439 | ARHGAP31 | c.2032A>G (p.Lys678Glu) c.1939A>G (p.Lys647Glu) c.1972A>G (p.Lys658Glu) c.1540A>G (p.Lys514Glu) | |
3 | g.119413961A>T | CA354048443 | ARHGAP31 | c.2032A>T (p.Lys678Ter) c.1939A>T (p.Lys647Ter) c.1972A>T (p.Lys658Ter) c.1540A>T (p.Lys514Ter) | |
3 | g.119413962A>C | CA354048444 | ARHGAP31 | c.2033A>C (p.Lys678Thr) c.1940A>C (p.Lys647Thr) c.1973A>C (p.Lys658Thr) c.1541A>C (p.Lys514Thr) | |
3 | g.119413962A>G | CA354048445 | ARHGAP31 | c.2033A>G (p.Lys678Arg) c.1940A>G (p.Lys647Arg) c.1973A>G (p.Lys658Arg) c.1541A>G (p.Lys514Arg) | |
3 | g.119413962A>T | CA354048446 | ARHGAP31 | c.2033A>T (p.Lys678Met) c.1940A>T (p.Lys647Met) c.1973A>T (p.Lys658Met) c.1541A>T (p.Lys514Met) | |
3 | g.119413963G>A | CA435411472 | ARHGAP31 | c.2034G>A (p.Lys678=) c.1941G>A (p.Lys647=) c.1974G>A (p.Lys658=) c.1542G>A (p.Lys514=) | |
3 | g.119413963G>C | CA354048449 | ARHGAP31 | c.2034G>C (p.Lys678Asn) c.1941G>C (p.Lys647Asn) c.1974G>C (p.Lys658Asn) c.1542G>C (p.Lys514Asn) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.119413963G= | CA1396548488 | ARHGAP31 | c.2034G= (p.Lys678=) c.1941G= (p.Lys647=) c.1974G= (p.Lys658=) c.1542G= (p.Lys514=) | |
3 | g.119413963G>T | CA354048452 | ARHGAP31 | c.2034G>T (p.Lys678Asn) c.1941G>T (p.Lys647Asn) c.1974G>T (p.Lys658Asn) c.1542G>T (p.Lys514Asn) | |
3 | g.119413964A>C | CA354048463 | ARHGAP31 | c.2035A>C (p.Thr679Pro) c.1942A>C (p.Thr648Pro) c.1975A>C (p.Thr659Pro) c.1543A>C (p.Thr515Pro) | |
3 | g.119413964A>G | CA354048461 | ARHGAP31 | c.2035A>G (p.Thr679Ala) c.1942A>G (p.Thr648Ala) c.1975A>G (p.Thr659Ala) c.1543A>G (p.Thr515Ala) | gnomAD v4 |
3 | g.119413964A>T | CA354048458 | ARHGAP31 | c.2035A>T (p.Thr679Ser) c.1942A>T (p.Thr648Ser) c.1975A>T (p.Thr659Ser) c.1543A>T (p.Thr515Ser) | |
3 | g.119413964_119413965delinsAC | CA1396548489 | ARHGAP31 | c.2035_2036delinsAC (p.Thr679=) c.1942_1943delinsAC (p.Thr648=) c.1975_1976delinsAC (p.Thr659=) c.1543_1544delinsAC (p.Thr515=) | |
3 | g.119413965C>A | CA354048467 | ARHGAP31 | c.2036C>A (p.Thr679Asn) c.1943C>A (p.Thr648Asn) c.1976C>A (p.Thr659Asn) c.1544C>A (p.Thr515Asn) | |
3 | g.119413965C= | CA1396548490 | ARHGAP31 | c.2036C= (p.Thr679=) c.1943C= (p.Thr648=) c.1976C= (p.Thr659=) c.1544C= (p.Thr515=) | |
3 | g.119413965C>G | CA354048471 | ARHGAP31 | c.2036C>G (p.Thr679Ser) c.1943C>G (p.Thr648Ser) c.1976C>G (p.Thr659Ser) c.1544C>G (p.Thr515Ser) | gnomAD v4 |
3 | g.119413965C>T | CA2553952 | ARHGAP31 | c.2036C>T (p.Thr679Ile) c.1943C>T (p.Thr648Ile) c.1976C>T (p.Thr659Ile) c.1544C>T (p.Thr515Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119413966del | CA81697309 | ARHGAP31 | c.2037del (p.Ser680AlafsTer?) c.1944del (p.Ser649AlafsTer?) c.1977del (p.Ser660AlafsTer?) c.1545del (p.Ser516AlafsTer?) | dbSNP |
3 | g.119413966C>A | CA435411476 | ARHGAP31 | c.2037C>A (p.Thr679=) c.1944C>A (p.Thr648=) c.1977C>A (p.Thr659=) c.1545C>A (p.Thr515=) | |
3 | g.119413966C= | CA1396548491 | ARHGAP31 | c.2037C= (p.Thr679=) c.1944C= (p.Thr648=) c.1977C= (p.Thr659=) c.1545C= (p.Thr515=) | |
3 | g.119413966C>G | CA2553953 | ARHGAP31 | c.2037C>G (p.Thr679=) c.1944C>G (p.Thr648=) c.1977C>G (p.Thr659=) c.1545C>G (p.Thr515=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.119413966C>T | CA2553954 | ARHGAP31 | c.2037C>T (p.Thr679=) c.1944C>T (p.Thr648=) c.1977C>T (p.Thr659=) c.1545C>T (p.Thr515=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.119413967A>C | CA354048501 | ARHGAP31 | c.2038A>C (p.Ser680Arg) c.1945A>C (p.Ser649Arg) c.1978A>C (p.Ser660Arg) c.1546A>C (p.Ser516Arg) | |
3 | g.119413967A>G | CA354048505 | ARHGAP31 | c.2038A>G (p.Ser680Gly) c.1945A>G (p.Ser649Gly) c.1978A>G (p.Ser660Gly) c.1546A>G (p.Ser516Gly) | |
3 | g.119413967A>T | CA354048512 | ARHGAP31 | c.2038A>T (p.Ser680Cys) c.1945A>T (p.Ser649Cys) c.1978A>T (p.Ser660Cys) c.1546A>T (p.Ser516Cys) | |
3 | g.119413968G>A | CA2553955 | ARHGAP31 | c.2039G>A (p.Ser680Asn) c.1946G>A (p.Ser649Asn) c.1979G>A (p.Ser660Asn) c.1547G>A (p.Ser516Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119413968G>C | CA354048518 | ARHGAP31 | c.2039G>C (p.Ser680Thr) c.1946G>C (p.Ser649Thr) c.1979G>C (p.Ser660Thr) c.1547G>C (p.Ser516Thr) | |
3 | g.119413968G= | CA1396548492 | ARHGAP31 | c.2039G= (p.Ser680=) c.1946G= (p.Ser649=) c.1979G= (p.Ser660=) c.1547G= (p.Ser516=) | |
3 | g.119413968G>T | CA354048521 | ARHGAP31 | c.2039G>T (p.Ser680Ile) c.1946G>T (p.Ser649Ile) c.1979G>T (p.Ser660Ile) c.1547G>T (p.Ser516Ile) | |
3 | g.119413969C>A | CA354048531 | ARHGAP31 | c.2040C>A (p.Ser680Arg) c.1947C>A (p.Ser649Arg) c.1980C>A (p.Ser660Arg) c.1548C>A (p.Ser516Arg) | gnomAD v4 |
3 | g.119413969C>G | CA354048532 | ARHGAP31 | c.2040C>G (p.Ser680Arg) c.1947C>G (p.Ser649Arg) c.1980C>G (p.Ser660Arg) c.1548C>G (p.Ser516Arg) | |
3 | g.119413969C>T | CA435411479 | ARHGAP31 | c.2040C>T (p.Ser680=) c.1947C>T (p.Ser649=) c.1980C>T (p.Ser660=) c.1548C>T (p.Ser516=) | |
3 | g.119413970C>A | CA354048537 | ARHGAP31 | c.2041C>A (p.Pro681Thr) c.1948C>A (p.Pro650Thr) c.1981C>A (p.Pro661Thr) c.1549C>A (p.Pro517Thr) | |
3 | g.119413970C= | CA1396548493 | ARHGAP31 | c.2041C= (p.Pro681=) c.1948C= (p.Pro650=) c.1981C= (p.Pro661=) c.1549C= (p.Pro517=) | |
3 | g.119413970C>G | CA354048555 | ARHGAP31 | c.2041C>G (p.Pro681Ala) c.1948C>G (p.Pro650Ala) c.1981C>G (p.Pro661Ala) c.1549C>G (p.Pro517Ala) | |
3 | g.119413970C>T | CA81697334 | ARHGAP31 | c.2041C>T (p.Pro681Ser) c.1948C>T (p.Pro650Ser) c.1981C>T (p.Pro661Ser) c.1549C>T (p.Pro517Ser) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.119413971C>A | CA354048560 | ARHGAP31 | c.2042C>A (p.Pro681Gln) c.1949C>A (p.Pro650Gln) c.1982C>A (p.Pro661Gln) c.1550C>A (p.Pro517Gln) | |
3 | g.119413971C= | CA1396548494 | ARHGAP31 | c.2042C= (p.Pro681=) c.1949C= (p.Pro650=) c.1982C= (p.Pro661=) c.1550C= (p.Pro517=) | |
3 | g.119413971C>G | CA2553956 | ARHGAP31 | c.2042C>G (p.Pro681Arg) c.1949C>G (p.Pro650Arg) c.1982C>G (p.Pro661Arg) c.1550C>G (p.Pro517Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119413971C>T | CA2553957 | ARHGAP31 | c.2042C>T (p.Pro681Leu) c.1949C>T (p.Pro650Leu) c.1982C>T (p.Pro661Leu) c.1550C>T (p.Pro517Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.119413972A>C | CA435411481 | ARHGAP31 | c.2043A>C (p.Pro681=) c.1950A>C (p.Pro650=) c.1983A>C (p.Pro661=) c.1551A>C (p.Pro517=) | |
3 | g.119413972A>G | CA435411483 | ARHGAP31 | c.2043A>G (p.Pro681=) c.1950A>G (p.Pro650=) c.1983A>G (p.Pro661=) c.1551A>G (p.Pro517=) | |
3 | g.119413972A>T | CA435411482 | ARHGAP31 | c.2043A>T (p.Pro681=) c.1950A>T (p.Pro650=) c.1983A>T (p.Pro661=) c.1551A>T (p.Pro517=) | |
3 | g.119413973A>C | CA354048572 | ARHGAP31 | c.2044A>C (p.Ile682Leu) c.1951A>C (p.Ile651Leu) c.1984A>C (p.Ile662Leu) c.1552A>C (p.Ile518Leu) | |
3 | g.119413973A>G | CA354048585 | ARHGAP31 | c.2044A>G (p.Ile682Val) c.1951A>G (p.Ile651Val) c.1984A>G (p.Ile662Val) c.1552A>G (p.Ile518Val) | gnomAD v4 |
3 | g.119413973A>T | CA354048587 | ARHGAP31 | c.2044A>T (p.Ile682Phe) c.1951A>T (p.Ile651Phe) c.1984A>T (p.Ile662Phe) c.1552A>T (p.Ile518Phe) | |
3 | g.119413974T>A | CA354048589 | ARHGAP31 | c.2045T>A (p.Ile682Asn) c.1952T>A (p.Ile651Asn) c.1985T>A (p.Ile662Asn) c.1553T>A (p.Ile518Asn) | |
3 | g.119413974T>C | CA354048591 | ARHGAP31 | c.2045T>C (p.Ile682Thr) c.1952T>C (p.Ile651Thr) c.1985T>C (p.Ile662Thr) c.1553T>C (p.Ile518Thr) | gnomAD v4 |
3 | g.119413974T>G | CA354048600 | ARHGAP31 | c.2045T>G (p.Ile682Ser) c.1952T>G (p.Ile651Ser) c.1985T>G (p.Ile662Ser) c.1553T>G (p.Ile518Ser) | |
3 | g.119413975T>A | CA435411485 | ARHGAP31 | c.2046T>A (p.Ile682=) c.1953T>A (p.Ile651=) c.1986T>A (p.Ile662=) c.1554T>A (p.Ile518=) | |
3 | g.119413975T>C | CA435411486 | ARHGAP31 | c.2046T>C (p.Ile682=) c.1953T>C (p.Ile651=) c.1986T>C (p.Ile662=) c.1554T>C (p.Ile518=) | |
3 | g.119413975T>G | CA354048603 | ARHGAP31 | c.2046T>G (p.Ile682Met) c.1953T>G (p.Ile651Met) c.1986T>G (p.Ile662Met) c.1554T>G (p.Ile518Met) | |
3 | g.119413976C>A | CA354048606 | ARHGAP31 | c.2047C>A (p.Gln683Lys) c.1954C>A (p.Gln652Lys) c.1987C>A (p.Gln663Lys) c.1555C>A (p.Gln519Lys) | |
3 | g.119413976C= | CA1396548495 | ARHGAP31 | c.2047C= (p.Gln683=) c.1954C= (p.Gln652=) c.1987C= (p.Gln663=) c.1555C= (p.Gln519=) | |
3 | g.119413976C>G | CA354048608 | ARHGAP31 | c.2047C>G (p.Gln683Glu) c.1954C>G (p.Gln652Glu) c.1987C>G (p.Gln663Glu) c.1555C>G (p.Gln519Glu) | |
3 | g.119413976C>T | CA129505 | ARHGAP31 | c.2047C>T (p.Gln683Ter) c.1954C>T (p.Gln652Ter) c.1987C>T (p.Gln663Ter) c.1555C>T (p.Gln519Ter) | ClinVar dbSNP gnomAD v4 |
3 | g.119413977A= | CA1396548496 | ARHGAP31 | c.2048A= (p.Gln683=) c.1955A= (p.Gln652=) c.1988A= (p.Gln663=) c.1556A= (p.Gln519=) | |
3 | g.119413977A>C | CA354048617 | ARHGAP31 | c.2048A>C (p.Gln683Pro) c.1955A>C (p.Gln652Pro) c.1988A>C (p.Gln663Pro) c.1556A>C (p.Gln519Pro) | |
3 | g.119413977A>G | CA81697349 | ARHGAP31 | c.2048A>G (p.Gln683Arg) c.1955A>G (p.Gln652Arg) c.1988A>G (p.Gln663Arg) c.1556A>G (p.Gln519Arg) | ClinVar dbSNP gnomAD v4 |
3 | g.119413977A>T | CA354048612 | ARHGAP31 | c.2048A>T (p.Gln683Leu) c.1955A>T (p.Gln652Leu) c.1988A>T (p.Gln663Leu) c.1556A>T (p.Gln519Leu) | |
3 | g.119413978G>A | CA435411487 | ARHGAP31 | c.2049G>A (p.Gln683=) c.1956G>A (p.Gln652=) c.1989G>A (p.Gln663=) c.1557G>A (p.Gln519=) | dbSNP gnomAD v4 |
3 | g.119413978G>C | CA354048624 | ARHGAP31 | c.2049G>C (p.Gln683His) c.1956G>C (p.Gln652His) c.1989G>C (p.Gln663His) c.1557G>C (p.Gln519His) | |
3 | g.119413978G= | CA1396548497 | ARHGAP31 | c.2049G= (p.Gln683=) c.1956G= (p.Gln652=) c.1989G= (p.Gln663=) c.1557G= (p.Gln519=) | |
3 | g.119413978G>T | CA354048639 | ARHGAP31 | c.2049G>T (p.Gln683His) c.1956G>T (p.Gln652His) c.1989G>T (p.Gln663His) c.1557G>T (p.Gln519His) | |
3 | g.119413979C>A | CA354048644 | ARHGAP31 | c.2050C>A (p.Pro684Thr) c.1957C>A (p.Pro653Thr) c.1990C>A (p.Pro664Thr) c.1558C>A (p.Pro520Thr) | |
3 | g.119413979C= | CA1396548498 | ARHGAP31 | c.2050C= (p.Pro684=) c.1957C= (p.Pro653=) c.1990C= (p.Pro664=) c.1558C= (p.Pro520=) | |
3 | g.119413979C>G | CA354048648 | ARHGAP31 | c.2050C>G (p.Pro684Ala) c.1957C>G (p.Pro653Ala) c.1990C>G (p.Pro664Ala) c.1558C>G (p.Pro520Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119413979C>T | CA354048650 | ARHGAP31 | c.2050C>T (p.Pro684Ser) c.1957C>T (p.Pro653Ser) c.1990C>T (p.Pro664Ser) c.1558C>T (p.Pro520Ser) | |
3 | g.119413980C>A | CA354048652 | ARHGAP31 | c.2051C>A (p.Pro684His) c.1958C>A (p.Pro653His) c.1991C>A (p.Pro664His) c.1559C>A (p.Pro520His) | |
3 | g.119413980C>G | CA354048653 | ARHGAP31 | c.2051C>G (p.Pro684Arg) c.1958C>G (p.Pro653Arg) c.1991C>G (p.Pro664Arg) c.1559C>G (p.Pro520Arg) | gnomAD v4 |
3 | g.119413980C>T | CA354048655 | ARHGAP31 | c.2051C>T (p.Pro684Leu) c.1958C>T (p.Pro653Leu) c.1991C>T (p.Pro664Leu) c.1559C>T (p.Pro520Leu) | COSMIC |