Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.119413875_119413891dupCA545960933ARHGAP31c.1946_1962dup (p.Glu655MetfsTer3)
c.1853_1869dup (p.Glu624MetfsTer3)
c.1886_1902dup (p.Glu635MetfsTer3)
c.1454_1470dup (p.Glu491MetfsTer3)
 dbSNP gnomAD v2 gnomAD v4
3g.119413876T>ACA354047833ARHGAP31c.1947T>A (p.Asn649Lys)
c.1854T>A (p.Asn618Lys)
c.1887T>A (p.Asn629Lys)
c.1455T>A (p.Asn485Lys)
3g.119413876T>CCA435411407ARHGAP31c.1947T>C (p.Asn649=)
c.1854T>C (p.Asn618=)
c.1887T>C (p.Asn629=)
c.1455T>C (p.Asn485=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.119413876T>GCA354047836ARHGAP31c.1947T>G (p.Asn649Lys)
c.1854T>G (p.Asn618Lys)
c.1887T>G (p.Asn629Lys)
c.1455T>G (p.Asn485Lys)
3g.119413876T=CA1396548465ARHGAP31c.1947T= (p.Asn649=)
c.1854T= (p.Asn618=)
c.1887T= (p.Asn629=)
c.1455T= (p.Asn485=)
3g.119413877G>ACA354047843ARHGAP31c.1948G>A (p.Ala650Thr)
c.1855G>A (p.Ala619Thr)
c.1888G>A (p.Ala630Thr)
c.1456G>A (p.Ala486Thr)
3g.119413877G>CCA354047846ARHGAP31c.1948G>C (p.Ala650Pro)
c.1855G>C (p.Ala619Pro)
c.1888G>C (p.Ala630Pro)
c.1456G>C (p.Ala486Pro)
3g.119413877G>TCA354047848ARHGAP31c.1948G>T (p.Ala650Ser)
c.1855G>T (p.Ala619Ser)
c.1888G>T (p.Ala630Ser)
c.1456G>T (p.Ala486Ser)
3g.119413877_119413878delinsGCCA1396548466ARHGAP31c.1948_1949delinsGC (p.Ala650=)
c.1855_1856delinsGC (p.Ala619=)
c.1888_1889delinsGC (p.Ala630=)
c.1456_1457delinsGC (p.Ala486=)
3g.119413878C>ACA354047857ARHGAP31c.1949C>A (p.Ala650Asp)
c.1856C>A (p.Ala619Asp)
c.1889C>A (p.Ala630Asp)
c.1457C>A (p.Ala486Asp)
3g.119413878C>GCA354047854ARHGAP31c.1949C>G (p.Ala650Gly)
c.1856C>G (p.Ala619Gly)
c.1889C>G (p.Ala630Gly)
c.1457C>G (p.Ala486Gly)
3g.119413878C>TCA354047853ARHGAP31c.1949C>T (p.Ala650Val)
c.1856C>T (p.Ala619Val)
c.1889C>T (p.Ala630Val)
c.1457C>T (p.Ala486Val)
3g.119413880delCA1396548467ARHGAP31c.1951del (p.Leu651Ter)
c.1858del (p.Leu620Ter)
c.1891del (p.Leu631Ter)
c.1459del (p.Leu487Ter)
 dbSNP
3g.119413879C>ACA435411416ARHGAP31c.1950C>A (p.Ala650=)
c.1857C>A (p.Ala619=)
c.1890C>A (p.Ala630=)
c.1458C>A (p.Ala486=)
3g.119413879C=CA1396548468ARHGAP31c.1950C= (p.Ala650=)
c.1857C= (p.Ala619=)
c.1890C= (p.Ala630=)
c.1458C= (p.Ala486=)
3g.119413879C>GCA435411414ARHGAP31c.1950C>G (p.Ala650=)
c.1857C>G (p.Ala619=)
c.1890C>G (p.Ala630=)
c.1458C>G (p.Ala486=)
3g.119413879C>TCA2553944ARHGAP31c.1950C>T (p.Ala650=)
c.1857C>T (p.Ala619=)
c.1890C>T (p.Ala630=)
c.1458C>T (p.Ala486=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.119413880C>ACA354047862ARHGAP31c.1951C>A (p.Leu651Met)
c.1858C>A (p.Leu620Met)
c.1891C>A (p.Leu631Met)
c.1459C>A (p.Leu487Met)
3g.119413880C>GCA354047869ARHGAP31c.1951C>G (p.Leu651Val)
c.1858C>G (p.Leu620Val)
c.1891C>G (p.Leu631Val)
c.1459C>G (p.Leu487Val)
3g.119413880C>TCA435411418ARHGAP31c.1951C>T (p.Leu651=)
c.1858C>T (p.Leu620=)
c.1891C>T (p.Leu631=)
c.1459C>T (p.Leu487=)
3g.119413881T>ACA354047872ARHGAP31c.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
3g.119413881T>CCA354047873ARHGAP31c.1952T>C (p.Leu651Pro)
c.1859T>C (p.Leu620Pro)
c.1892T>C (p.Leu631Pro)
c.1460T>C (p.Leu487Pro)
 gnomAD v4
3g.119413881T>GCA354047874ARHGAP31c.1952T>G (p.Leu651Arg)
c.1859T>G (p.Leu620Arg)
c.1892T>G (p.Leu631Arg)
c.1460T>G (p.Leu487Arg)
3g.119413881T=CA1396548469ARHGAP31c.1952T= (p.Leu651=)
c.1859T= (p.Leu620=)
c.1892T= (p.Leu631=)
c.1460T= (p.Leu487=)
3g.119413882G>ACA435411419ARHGAP31c.1953G>A (p.Leu651=)
c.1860G>A (p.Leu620=)
c.1893G>A (p.Leu631=)
c.1461G>A (p.Leu487=)
3g.119413882G>CCA435411420ARHGAP31c.1953G>C (p.Leu651=)
c.1860G>C (p.Leu620=)
c.1893G>C (p.Leu631=)
c.1461G>C (p.Leu487=)
3g.119413882G>TCA435411421ARHGAP31c.1953G>T (p.Leu651=)
c.1860G>T (p.Leu620=)
c.1893G>T (p.Leu631=)
c.1461G>T (p.Leu487=)
 gnomAD v4
3g.119413883A>CCA354047879ARHGAP31c.1954A>C (p.Ile652Leu)
c.1861A>C (p.Ile621Leu)
c.1894A>C (p.Ile632Leu)
c.1462A>C (p.Ile488Leu)
3g.119413883A>GCA354047877ARHGAP31c.1954A>G (p.Ile652Val)
c.1861A>G (p.Ile621Val)
c.1894A>G (p.Ile632Val)
c.1462A>G (p.Ile488Val)
3g.119413883A>TCA354047878ARHGAP31c.1954A>T (p.Ile652Phe)
c.1861A>T (p.Ile621Phe)
c.1894A>T (p.Ile632Phe)
c.1462A>T (p.Ile488Phe)
3g.119413884T>ACA354047880ARHGAP31c.1955T>A (p.Ile652Asn)
c.1862T>A (p.Ile621Asn)
c.1895T>A (p.Ile632Asn)
c.1463T>A (p.Ile488Asn)
3g.119413884T>CCA354047882ARHGAP31c.1955T>C (p.Ile652Thr)
c.1862T>C (p.Ile621Thr)
c.1895T>C (p.Ile632Thr)
c.1463T>C (p.Ile488Thr)
3g.119413884T>GCA354047893ARHGAP31c.1955T>G (p.Ile652Ser)
c.1862T>G (p.Ile621Ser)
c.1895T>G (p.Ile632Ser)
c.1463T>G (p.Ile488Ser)
3g.119413885C>ACA435411425ARHGAP31c.1956C>A (p.Ile652=)
c.1863C>A (p.Ile621=)
c.1896C>A (p.Ile632=)
c.1464C>A (p.Ile488=)
3g.119413885C=CA1396548470ARHGAP31c.1956C= (p.Ile652=)
c.1863C= (p.Ile621=)
c.1896C= (p.Ile632=)
c.1464C= (p.Ile488=)
3g.119413885C>GCA354047895ARHGAP31c.1956C>G (p.Ile652Met)
c.1863C>G (p.Ile621Met)
c.1896C>G (p.Ile632Met)
c.1464C>G (p.Ile488Met)
 gnomAD v4
3g.119413885C>TCA2553945ARHGAP31c.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
3g.119413886T>ACA354047903ARHGAP31c.1957T>A (p.Trp653Arg)
c.1864T>A (p.Trp622Arg)
c.1897T>A (p.Trp633Arg)
c.1465T>A (p.Trp489Arg)
3g.119413886T>CCA354047896ARHGAP31c.1957T>C (p.Trp653Arg)
c.1864T>C (p.Trp622Arg)
c.1897T>C (p.Trp633Arg)
c.1465T>C (p.Trp489Arg)
3g.119413886T>GCA354047898ARHGAP31c.1957T>G (p.Trp653Gly)
c.1864T>G (p.Trp622Gly)
c.1897T>G (p.Trp633Gly)
c.1465T>G (p.Trp489Gly)
3g.119413887G>ACA354047911ARHGAP31c.1958G>A (p.Trp653Ter)
c.1865G>A (p.Trp622Ter)
c.1898G>A (p.Trp633Ter)
c.1466G>A (p.Trp489Ter)
3g.119413887G>CCA354047920ARHGAP31c.1958G>C (p.Trp653Ser)
c.1865G>C (p.Trp622Ser)
c.1898G>C (p.Trp633Ser)
c.1466G>C (p.Trp489Ser)
3g.119413887G>TCA354047926ARHGAP31c.1958G>T (p.Trp653Leu)
c.1865G>T (p.Trp622Leu)
c.1898G>T (p.Trp633Leu)
c.1466G>T (p.Trp489Leu)
3g.119413888G>ACA354047930ARHGAP31c.1959G>A (p.Trp653Ter)
c.1866G>A (p.Trp622Ter)
c.1899G>A (p.Trp633Ter)
c.1467G>A (p.Trp489Ter)
3g.119413888G>CCA354047936ARHGAP31c.1959G>C (p.Trp653Cys)
c.1866G>C (p.Trp622Cys)
c.1899G>C (p.Trp633Cys)
c.1467G>C (p.Trp489Cys)
3g.119413888G>TCA354047938ARHGAP31c.1959G>T (p.Trp653Cys)
c.1866G>T (p.Trp622Cys)
c.1899G>T (p.Trp633Cys)
c.1467G>T (p.Trp489Cys)
3g.119413889C>ACA354047942ARHGAP31c.1960C>A (p.Pro654Thr)
c.1867C>A (p.Pro623Thr)
c.1900C>A (p.Pro634Thr)
c.1468C>A (p.Pro490Thr)
3g.119413889C>GCA354047944ARHGAP31c.1960C>G (p.Pro654Ala)
c.1867C>G (p.Pro623Ala)
c.1900C>G (p.Pro634Ala)
c.1468C>G (p.Pro490Ala)
3g.119413889C>TCA354047954ARHGAP31c.1960C>T (p.Pro654Ser)
c.1867C>T (p.Pro623Ser)
c.1900C>T (p.Pro634Ser)
c.1468C>T (p.Pro490Ser)
3g.119413890C>ACA354047965ARHGAP31c.1961C>A (p.Pro654His)
c.1868C>A (p.Pro623His)
c.1901C>A (p.Pro634His)
c.1469C>A (p.Pro490His)

Number of alleles fetched