Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
3 | g.119413981T>A | CA435411488 | ARHGAP31 | c.2052T>A (p.Pro684=) c.1959T>A (p.Pro653=) c.1992T>A (p.Pro664=) c.1560T>A (p.Pro520=) | |
3 | g.119413981T>C | CA435411489 | ARHGAP31 | c.2052T>C (p.Pro684=) c.1959T>C (p.Pro653=) c.1992T>C (p.Pro664=) c.1560T>C (p.Pro520=) | |
3 | g.119413981T>G | CA81697353 | ARHGAP31 | c.2052T>G (p.Pro684=) c.1959T>G (p.Pro653=) c.1992T>G (p.Pro664=) c.1560T>G (p.Pro520=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.119413981T= | CA1396548499 | ARHGAP31 | c.2052T= (p.Pro684=) c.1959T= (p.Pro653=) c.1992T= (p.Pro664=) c.1560T= (p.Pro520=) | |
3 | g.119413982A= | CA1396548500 | ARHGAP31 | c.2053A= (p.Ile685=) c.1960A= (p.Ile654=) c.1993A= (p.Ile665=) c.1561A= (p.Ile521=) | |
3 | g.119413982A>C | CA354048658 | ARHGAP31 | c.2053A>C (p.Ile685Leu) c.1960A>C (p.Ile654Leu) c.1993A>C (p.Ile665Leu) c.1561A>C (p.Ile521Leu) | |
3 | g.119413982A>G | CA354048661 | ARHGAP31 | c.2053A>G (p.Ile685Val) c.1960A>G (p.Ile654Val) c.1993A>G (p.Ile665Val) c.1561A>G (p.Ile521Val) | dbSNP gnomAD v4 |
3 | g.119413982A>T | CA354048664 | ARHGAP31 | c.2053A>T (p.Ile685Phe) c.1960A>T (p.Ile654Phe) c.1993A>T (p.Ile665Phe) c.1561A>T (p.Ile521Phe) | |
3 | g.119413983T>A | CA354048667 | ARHGAP31 | c.2054T>A (p.Ile685Asn) c.1961T>A (p.Ile654Asn) c.1994T>A (p.Ile665Asn) c.1562T>A (p.Ile521Asn) | |
3 | g.119413983T>C | CA354048672 | ARHGAP31 | c.2054T>C (p.Ile685Thr) c.1961T>C (p.Ile654Thr) c.1994T>C (p.Ile665Thr) c.1562T>C (p.Ile521Thr) | |
3 | g.119413983T>G | CA354048680 | ARHGAP31 | c.2054T>G (p.Ile685Ser) c.1961T>G (p.Ile654Ser) c.1994T>G (p.Ile665Ser) c.1562T>G (p.Ile521Ser) | |
3 | g.119413984T>A | CA435411491 | ARHGAP31 | c.2055T>A (p.Ile685=) c.1962T>A (p.Ile654=) c.1995T>A (p.Ile665=) c.1563T>A (p.Ile521=) | |
3 | g.119413984T>C | CA435411492 | ARHGAP31 | c.2055T>C (p.Ile685=) c.1962T>C (p.Ile654=) c.1995T>C (p.Ile665=) c.1563T>C (p.Ile521=) | |
3 | g.119413984T>G | CA354048692 | ARHGAP31 | c.2055T>G (p.Ile685Met) c.1962T>G (p.Ile654Met) c.1995T>G (p.Ile665Met) c.1563T>G (p.Ile521Met) | |
3 | g.119413985C>A | CA354048700 | ARHGAP31 | c.2056C>A (p.Leu686Ile) c.1963C>A (p.Leu655Ile) c.1996C>A (p.Leu666Ile) c.1564C>A (p.Leu522Ile) | gnomAD v4 COSMIC |
3 | g.119413985C>G | CA354048704 | ARHGAP31 | c.2056C>G (p.Leu686Val) c.1963C>G (p.Leu655Val) c.1996C>G (p.Leu666Val) c.1564C>G (p.Leu522Val) | |
3 | g.119413985C>T | CA354048698 | ARHGAP31 | c.2056C>T (p.Leu686Phe) c.1963C>T (p.Leu655Phe) c.1996C>T (p.Leu666Phe) c.1564C>T (p.Leu522Phe) | |
3 | g.119413986T>A | CA354048707 | ARHGAP31 | c.2057T>A (p.Leu686His) c.1964T>A (p.Leu655His) c.1997T>A (p.Leu666His) c.1565T>A (p.Leu522His) | |
3 | g.119413986T>C | CA354048708 | ARHGAP31 | c.2057T>C (p.Leu686Pro) c.1964T>C (p.Leu655Pro) c.1997T>C (p.Leu666Pro) c.1565T>C (p.Leu522Pro) | |
3 | g.119413986T>G | CA354048709 | ARHGAP31 | c.2057T>G (p.Leu686Arg) c.1964T>G (p.Leu655Arg) c.1997T>G (p.Leu666Arg) c.1565T>G (p.Leu522Arg) | |
3 | g.119413993_119413997del | CA2577942208 | ARHGAP31 | c.2064_2068del (p.Ser689GlyfsTer?) c.1971_1975del (p.Ser658GlyfsTer?) c.2004_2008del (p.Ser669GlyfsTer?) c.1572_1576del (p.Ser525GlyfsTer?) | |
3 | g.119413987C>A | CA435411493 | ARHGAP31 | c.2058C>A (p.Leu686=) c.1965C>A (p.Leu655=) c.1998C>A (p.Leu666=) c.1566C>A (p.Leu522=) | |
3 | g.119413987C= | CA1396548501 | ARHGAP31 | c.2058C= (p.Leu686=) c.1965C= (p.Leu655=) c.1998C= (p.Leu666=) c.1566C= (p.Leu522=) | |
3 | g.119413987C>G | CA2553958 | ARHGAP31 | c.2058C>G (p.Leu686=) c.1965C>G (p.Leu655=) c.1998C>G (p.Leu666=) c.1566C>G (p.Leu522=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119413987C>T | CA81697356 | ARHGAP31 | c.2058C>T (p.Leu686=) c.1965C>T (p.Leu655=) c.1998C>T (p.Leu666=) c.1566C>T (p.Leu522=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.119413988G>A | CA2553959 | ARHGAP31 | c.2059G>A (p.Glu687Lys) c.1966G>A (p.Glu656Lys) c.1999G>A (p.Glu667Lys) c.1567G>A (p.Glu523Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119413988G>C | CA354048724 | ARHGAP31 | c.2059G>C (p.Glu687Gln) c.1966G>C (p.Glu656Gln) c.1999G>C (p.Glu667Gln) c.1567G>C (p.Glu523Gln) | ClinVar dbSNP gnomAD v4 |
3 | g.119413988G= | CA1396548502 | ARHGAP31 | c.2059G= (p.Glu687=) c.1966G= (p.Glu656=) c.1999G= (p.Glu667=) c.1567G= (p.Glu523=) | |
3 | g.119413988G>T | CA354048730 | ARHGAP31 | c.2059G>T (p.Glu687Ter) c.1966G>T (p.Glu656Ter) c.1999G>T (p.Glu667Ter) c.1567G>T (p.Glu523Ter) | |
3 | g.119413989A>C | CA354048737 | ARHGAP31 | c.2060A>C (p.Glu687Ala) c.1967A>C (p.Glu656Ala) c.2000A>C (p.Glu667Ala) c.1568A>C (p.Glu523Ala) | |
3 | g.119413989A>G | CA354048739 | ARHGAP31 | c.2060A>G (p.Glu687Gly) c.1967A>G (p.Glu656Gly) c.2000A>G (p.Glu667Gly) c.1568A>G (p.Glu523Gly) | |
3 | g.119413989A>T | CA354048742 | ARHGAP31 | c.2060A>T (p.Glu687Val) c.1967A>T (p.Glu656Val) c.2000A>T (p.Glu667Val) c.1568A>T (p.Glu523Val) | |
3 | g.119413990G>A | CA435411497 | ARHGAP31 | c.2061G>A (p.Glu687=) c.1968G>A (p.Glu656=) c.2001G>A (p.Glu667=) c.1569G>A (p.Glu523=) | |
3 | g.119413990G>C | CA354048748 | ARHGAP31 | c.2061G>C (p.Glu687Asp) c.1968G>C (p.Glu656Asp) c.2001G>C (p.Glu667Asp) c.1569G>C (p.Glu523Asp) | |
3 | g.119413990G>T | CA354048755 | ARHGAP31 | c.2061G>T (p.Glu687Asp) c.1968G>T (p.Glu656Asp) c.2001G>T (p.Glu667Asp) c.1569G>T (p.Glu523Asp) | COSMIC |
3 | g.119413991T>A | CA354048767 | ARHGAP31 | c.2062T>A (p.Ser688Thr) c.1969T>A (p.Ser657Thr) c.2002T>A (p.Ser668Thr) c.1570T>A (p.Ser524Thr) | |
3 | g.119413991T>C | CA354048761 | ARHGAP31 | c.2062T>C (p.Ser688Pro) c.1969T>C (p.Ser657Pro) c.2002T>C (p.Ser668Pro) c.1570T>C (p.Ser524Pro) | |
3 | g.119413991T>G | CA354048764 | ARHGAP31 | c.2062T>G (p.Ser688Ala) c.1969T>G (p.Ser657Ala) c.2002T>G (p.Ser668Ala) c.1570T>G (p.Ser524Ala) | gnomAD v4 |
3 | g.119413992C>A | CA354048771 | ARHGAP31 | c.2063C>A (p.Ser688Ter) c.1970C>A (p.Ser657Ter) c.2003C>A (p.Ser668Ter) c.1571C>A (p.Ser524Ter) | gnomAD v4 |
3 | g.119413992C= | CA1396548503 | ARHGAP31 | c.2063C= (p.Ser688=) c.1970C= (p.Ser657=) c.2003C= (p.Ser668=) c.1571C= (p.Ser524=) | |
3 | g.119413992C>G | CA2553960 | ARHGAP31 | c.2063C>G (p.Ser688Trp) c.1970C>G (p.Ser657Trp) c.2003C>G (p.Ser668Trp) c.1571C>G (p.Ser524Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.119413992C>T | CA354048776 | ARHGAP31 | c.2063C>T (p.Ser688Leu) c.1970C>T (p.Ser657Leu) c.2003C>T (p.Ser668Leu) c.1571C>T (p.Ser524Leu) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
3 | g.119413992_119413993insTT | CA2586965849 | ARHGAP31 | c.2063_2064insTT (p.Ser689Ter) c.1970_1971insTT (p.Ser658Ter) c.2003_2004insTT (p.Ser669Ter) c.1571_1572insTT (p.Ser525Ter) | |
3 | g.119413993G>A | CA2553961 | ARHGAP31 | c.2064G>A (p.Ser688=) c.1971G>A (p.Ser657=) c.2004G>A (p.Ser668=) c.1572G>A (p.Ser524=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
3 | g.119413993G>C | CA435411498 | ARHGAP31 | c.2064G>C (p.Ser688=) c.1971G>C (p.Ser657=) c.2004G>C (p.Ser668=) c.1572G>C (p.Ser524=) | gnomAD v4 |
3 | g.119413993G= | CA1396548504 | ARHGAP31 | c.2064G= (p.Ser688=) c.1971G= (p.Ser657=) c.2004G= (p.Ser668=) c.1572G= (p.Ser524=) | |
3 | g.119413993G>T | CA435411499 | ARHGAP31 | c.2064G>T (p.Ser688=) c.1971G>T (p.Ser657=) c.2004G>T (p.Ser668=) c.1572G>T (p.Ser524=) | |
3 | g.119413994A>C | CA354048785 | ARHGAP31 | c.2065A>C (p.Ser689Arg) c.1972A>C (p.Ser658Arg) c.2005A>C (p.Ser669Arg) c.1573A>C (p.Ser525Arg) | |
3 | g.119413994A>G | CA354048791 | ARHGAP31 | c.2065A>G (p.Ser689Gly) c.1972A>G (p.Ser658Gly) c.2005A>G (p.Ser669Gly) c.1573A>G (p.Ser525Gly) | |
3 | g.119413994A>T | CA354048813 | ARHGAP31 | c.2065A>T (p.Ser689Cys) c.1972A>T (p.Ser658Cys) c.2005A>T (p.Ser669Cys) c.1573A>T (p.Ser525Cys) | |
3 | g.119413995G>A | CA354048818 | ARHGAP31 | c.2066G>A (p.Ser689Asn) c.1973G>A (p.Ser658Asn) c.2006G>A (p.Ser669Asn) c.1574G>A (p.Ser525Asn) | |
3 | g.119413995G>C | CA354048819 | ARHGAP31 | c.2066G>C (p.Ser689Thr) c.1973G>C (p.Ser658Thr) c.2006G>C (p.Ser669Thr) c.1574G>C (p.Ser525Thr) | dbSNP gnomAD v4 |
3 | g.119413995G= | CA1396548505 | ARHGAP31 | c.2066G= (p.Ser689=) c.1973G= (p.Ser658=) c.2006G= (p.Ser669=) c.1574G= (p.Ser525=) | |
3 | g.119413995G>T | CA354048820 | ARHGAP31 | c.2066G>T (p.Ser689Ile) c.1973G>T (p.Ser658Ile) c.2006G>T (p.Ser669Ile) c.1574G>T (p.Ser525Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119413996T>A | CA354048821 | ARHGAP31 | c.2067T>A (p.Ser689Arg) c.1974T>A (p.Ser658Arg) c.2007T>A (p.Ser669Arg) c.1575T>A (p.Ser525Arg) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.119413996T>C | CA435411500 | ARHGAP31 | c.2067T>C (p.Ser689=) c.1974T>C (p.Ser658=) c.2007T>C (p.Ser669=) c.1575T>C (p.Ser525=) | dbSNP |
3 | g.119413996T>G | CA354048825 | ARHGAP31 | c.2067T>G (p.Ser689Arg) c.1974T>G (p.Ser658Arg) c.2007T>G (p.Ser669Arg) c.1575T>G (p.Ser525Arg) | |
3 | g.119413996T= | CA1396548506 | ARHGAP31 | c.2067T= (p.Ser689=) c.1974T= (p.Ser658=) c.2007T= (p.Ser669=) c.1575T= (p.Ser525=) | |
3 | g.119413996_119413997insG | CA81697371 | ARHGAP31 | c.2067_2068insG (p.Leu690AlafsTer?) c.1974_1975insG (p.Leu659AlafsTer?) c.2007_2008insG (p.Leu670AlafsTer?) c.1575_1576insG (p.Leu526AlafsTer?) | dbSNP |
3 | g.119413997C>A | CA354048849 | ARHGAP31 | c.2068C>A (p.Leu690Met) c.1975C>A (p.Leu659Met) c.2008C>A (p.Leu670Met) c.1576C>A (p.Leu526Met) | |
3 | g.119413997C>G | CA354048847 | ARHGAP31 | c.2068C>G (p.Leu690Val) c.1975C>G (p.Leu659Val) c.2008C>G (p.Leu670Val) c.1576C>G (p.Leu526Val) | |
3 | g.119413997C>T | CA435411503 | ARHGAP31 | c.2068C>T (p.Leu690=) c.1975C>T (p.Leu659=) c.2008C>T (p.Leu670=) c.1576C>T (p.Leu526=) | gnomAD v4 |
3 | g.119413998T>A | CA354048862 | ARHGAP31 | c.2069T>A (p.Leu690Gln) c.1976T>A (p.Leu659Gln) c.2009T>A (p.Leu670Gln) c.1577T>A (p.Leu526Gln) | |
3 | g.119413998T>C | CA354048870 | ARHGAP31 | c.2069T>C (p.Leu690Pro) c.1976T>C (p.Leu659Pro) c.2009T>C (p.Leu670Pro) c.1577T>C (p.Leu526Pro) | dbSNP gnomAD v4 |
3 | g.119413998T>G | CA354048866 | ARHGAP31 | c.2069T>G (p.Leu690Arg) c.1976T>G (p.Leu659Arg) c.2009T>G (p.Leu670Arg) c.1577T>G (p.Leu526Arg) | |
3 | g.119413998T= | CA1396548507 | ARHGAP31 | c.2069T= (p.Leu690=) c.1976T= (p.Leu659=) c.2009T= (p.Leu670=) c.1577T= (p.Leu526=) | |
3 | g.119413999G>A | CA435411504 | ARHGAP31 | c.2070G>A (p.Leu690=) c.1977G>A (p.Leu659=) c.2010G>A (p.Leu670=) c.1578G>A (p.Leu526=) | |
3 | g.119413999G>C | CA2553962 | ARHGAP31 | c.2070G>C (p.Leu690=) c.1977G>C (p.Leu659=) c.2010G>C (p.Leu670=) c.1578G>C (p.Leu526=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.119413999G= | CA1396548508 | ARHGAP31 | c.2070G= (p.Leu690=) c.1977G= (p.Leu659=) c.2010G= (p.Leu670=) c.1578G= (p.Leu526=) | |
3 | g.119413999G>T | CA435411506 | ARHGAP31 | c.2070G>T (p.Leu690=) c.1977G>T (p.Leu659=) c.2010G>T (p.Leu670=) c.1578G>T (p.Leu526=) | |
3 | g.119414000G>A | CA2553963 | ARHGAP31 | c.2071G>A (p.Gly691Arg) c.1978G>A (p.Gly660Arg) c.2011G>A (p.Gly671Arg) c.1579G>A (p.Gly527Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.119414000G>C | CA354048881 | ARHGAP31 | c.2071G>C (p.Gly691Arg) c.1978G>C (p.Gly660Arg) c.2011G>C (p.Gly671Arg) c.1579G>C (p.Gly527Arg) | |
3 | g.119414000G= | CA1396548509 | ARHGAP31 | c.2071G= (p.Gly691=) c.1978G= (p.Gly660=) c.2011G= (p.Gly671=) c.1579G= (p.Gly527=) | |
3 | g.119414000G>T | CA354048884 | ARHGAP31 | c.2071G>T (p.Gly691Trp) c.1978G>T (p.Gly660Trp) c.2011G>T (p.Gly671Trp) c.1579G>T (p.Gly527Trp) | |
3 | g.119414001G>A | CA354048901 | ARHGAP31 | c.2072G>A (p.Gly691Glu) c.1979G>A (p.Gly660Glu) c.2012G>A (p.Gly671Glu) c.1580G>A (p.Gly527Glu) | gnomAD v4 |
3 | g.119414001G>C | CA2553964 | ARHGAP31 | c.2072G>C (p.Gly691Ala) c.1979G>C (p.Gly660Ala) c.2012G>C (p.Gly671Ala) c.1580G>C (p.Gly527Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.119414001G= | CA1396548510 | ARHGAP31 | c.2072G= (p.Gly691=) c.1979G= (p.Gly660=) c.2012G= (p.Gly671=) c.1580G= (p.Gly527=) | |
3 | g.119414001G>T | CA354048905 | ARHGAP31 | c.2072G>T (p.Gly691Val) c.1979G>T (p.Gly660Val) c.2012G>T (p.Gly671Val) c.1580G>T (p.Gly527Val) | |
3 | g.119414002G>A | CA435411510 | ARHGAP31 | c.2073G>A (p.Gly691=) c.1980G>A (p.Gly660=) c.2013G>A (p.Gly671=) c.1581G>A (p.Gly527=) | |
3 | g.119414002G>C | CA435411511 | ARHGAP31 | c.2073G>C (p.Gly691=) c.1980G>C (p.Gly660=) c.2013G>C (p.Gly671=) c.1581G>C (p.Gly527=) | |
3 | g.119414002G>T | CA435411512 | ARHGAP31 | c.2073G>T (p.Gly691=) c.1980G>T (p.Gly660=) c.2013G>T (p.Gly671=) c.1581G>T (p.Gly527=) | |
3 | g.119414003C>A | CA2553965 | ARHGAP31 | c.2074C>A (p.Pro692Thr) c.1981C>A (p.Pro661Thr) c.2014C>A (p.Pro672Thr) c.1582C>A (p.Pro528Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.119414003C= | CA1396548511 | ARHGAP31 | c.2074C= (p.Pro692=) c.1981C= (p.Pro661=) c.2014C= (p.Pro672=) c.1582C= (p.Pro528=) | |
3 | g.119414003C>G | CA354048934 | ARHGAP31 | c.2074C>G (p.Pro692Ala) c.1981C>G (p.Pro661Ala) c.2014C>G (p.Pro672Ala) c.1582C>G (p.Pro528Ala) | |
3 | g.119414003C>T | CA354048938 | ARHGAP31 | c.2074C>T (p.Pro692Ser) c.1981C>T (p.Pro661Ser) c.2014C>T (p.Pro672Ser) c.1582C>T (p.Pro528Ser) | gnomAD v4 |
3 | g.119414004C>A | CA354048945 | ARHGAP31 | c.2075C>A (p.Pro692His) c.1982C>A (p.Pro661His) c.2015C>A (p.Pro672His) c.1583C>A (p.Pro528His) | |
3 | g.119414004C= | CA1396548512 | ARHGAP31 | c.2075C= (p.Pro692=) c.1982C= (p.Pro661=) c.2015C= (p.Pro672=) c.1583C= (p.Pro528=) | |
3 | g.119414004C>G | CA354048948 | ARHGAP31 | c.2075C>G (p.Pro692Arg) c.1982C>G (p.Pro661Arg) c.2015C>G (p.Pro672Arg) c.1583C>G (p.Pro528Arg) | |
3 | g.119414004C>T | CA354048952 | ARHGAP31 | c.2075C>T (p.Pro692Leu) c.1982C>T (p.Pro661Leu) c.2015C>T (p.Pro672Leu) c.1583C>T (p.Pro528Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119414005C>A | CA2553966 | ARHGAP31 | c.2076C>A (p.Pro692=) c.1983C>A (p.Pro661=) c.2016C>A (p.Pro672=) c.1584C>A (p.Pro528=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.119414005C= | CA1396548513 | ARHGAP31 | c.2076C= (p.Pro692=) c.1983C= (p.Pro661=) c.2016C= (p.Pro672=) c.1584C= (p.Pro528=) | |
3 | g.119414005C>G | CA435411513 | ARHGAP31 | c.2076C>G (p.Pro692=) c.1983C>G (p.Pro661=) c.2016C>G (p.Pro672=) c.1584C>G (p.Pro528=) | |
3 | g.119414005C>T | CA435411514 | ARHGAP31 | c.2076C>T (p.Pro692=) c.1983C>T (p.Pro661=) c.2016C>T (p.Pro672=) c.1584C>T (p.Pro528=) | |
3 | g.119414006T>A | CA354048960 | ARHGAP31 | c.2077T>A (p.Phe693Ile) c.1984T>A (p.Phe662Ile) c.2017T>A (p.Phe673Ile) c.1585T>A (p.Phe529Ile) | |
3 | g.119414006T>C | CA354048964 | ARHGAP31 | c.2077T>C (p.Phe693Leu) c.1984T>C (p.Phe662Leu) c.2017T>C (p.Phe673Leu) c.1585T>C (p.Phe529Leu) | |
3 | g.119414006T>G | CA354048966 | ARHGAP31 | c.2077T>G (p.Phe693Val) c.1984T>G (p.Phe662Val) c.2017T>G (p.Phe673Val) c.1585T>G (p.Phe529Val) | |
3 | g.119414007T>A | CA354048967 | ARHGAP31 | c.2078T>A (p.Phe693Tyr) c.1985T>A (p.Phe662Tyr) c.2018T>A (p.Phe673Tyr) c.1586T>A (p.Phe529Tyr) | |
3 | g.119414007T>C | CA354048968 | ARHGAP31 | c.2078T>C (p.Phe693Ser) c.1985T>C (p.Phe662Ser) c.2018T>C (p.Phe673Ser) c.1586T>C (p.Phe529Ser) | gnomAD v4 |
3 | g.119414007T>G | CA354048969 | ARHGAP31 | c.2078T>G (p.Phe693Cys) c.1985T>G (p.Phe662Cys) c.2018T>G (p.Phe673Cys) c.1586T>G (p.Phe529Cys) | |
3 | g.119414008T>A | CA354048973 | ARHGAP31 | c.2079T>A (p.Phe693Leu) c.1986T>A (p.Phe662Leu) c.2019T>A (p.Phe673Leu) c.1587T>A (p.Phe529Leu) | |
3 | g.119414008T>C | CA2553967 | ARHGAP31 | c.2079T>C (p.Phe693=) c.1986T>C (p.Phe662=) c.2019T>C (p.Phe673=) c.1587T>C (p.Phe529=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119414008T>G | CA354048977 | ARHGAP31 | c.2079T>G (p.Phe693Leu) c.1986T>G (p.Phe662Leu) c.2019T>G (p.Phe673Leu) c.1587T>G (p.Phe529Leu) | |
3 | g.119414008T= | CA1396548514 | ARHGAP31 | c.2079T= (p.Phe693=) c.1986T= (p.Phe662=) c.2019T= (p.Phe673=) c.1587T= (p.Phe529=) | |
3 | g.119414009A>C | CA354048981 | ARHGAP31 | c.2080A>C (p.Ile694Leu) c.1987A>C (p.Ile663Leu) c.2020A>C (p.Ile674Leu) c.1588A>C (p.Ile530Leu) | |
3 | g.119414009A>G | CA354048984 | ARHGAP31 | c.2080A>G (p.Ile694Val) c.1987A>G (p.Ile663Val) c.2020A>G (p.Ile674Val) c.1588A>G (p.Ile530Val) | |
3 | g.119414009A>T | CA354048989 | ARHGAP31 | c.2080A>T (p.Ile694Phe) c.1987A>T (p.Ile663Phe) c.2020A>T (p.Ile674Phe) c.1588A>T (p.Ile530Phe) | |
3 | g.119414010T>A | CA354049001 | ARHGAP31 | c.2081T>A (p.Ile694Asn) c.1988T>A (p.Ile663Asn) c.2021T>A (p.Ile674Asn) c.1589T>A (p.Ile530Asn) | |
3 | g.119414010T>C | CA354049000 | ARHGAP31 | c.2081T>C (p.Ile694Thr) c.1988T>C (p.Ile663Thr) c.2021T>C (p.Ile674Thr) c.1589T>C (p.Ile530Thr) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.119414010T>G | CA354048993 | ARHGAP31 | c.2081T>G (p.Ile694Ser) c.1988T>G (p.Ile663Ser) c.2021T>G (p.Ile674Ser) c.1589T>G (p.Ile530Ser) | gnomAD v4 |
3 | g.119414010T= | CA1396548515 | ARHGAP31 | c.2081T= (p.Ile694=) c.1988T= (p.Ile663=) c.2021T= (p.Ile674=) c.1589T= (p.Ile530=) | |
3 | g.119414011T>A | CA435411517 | ARHGAP31 | c.2082T>A (p.Ile694=) c.1989T>A (p.Ile663=) c.2022T>A (p.Ile674=) c.1590T>A (p.Ile530=) | dbSNP |
3 | g.119414011T>C | CA435411518 | ARHGAP31 | c.2082T>C (p.Ile694=) c.1989T>C (p.Ile663=) c.2022T>C (p.Ile674=) c.1590T>C (p.Ile530=) | |
3 | g.119414011T>G | CA354049006 | ARHGAP31 | c.2082T>G (p.Ile694Met) c.1989T>G (p.Ile663Met) c.2022T>G (p.Ile674Met) c.1590T>G (p.Ile530Met) | dbSNP |
3 | g.119414011T= | CA1396548516 | ARHGAP31 | c.2082T= (p.Ile694=) c.1989T= (p.Ile663=) c.2022T= (p.Ile674=) c.1590T= (p.Ile530=) | |
3 | g.119414012C>A | CA354049010 | ARHGAP31 | c.2083C>A (p.Pro695Thr) c.1990C>A (p.Pro664Thr) c.2023C>A (p.Pro675Thr) c.1591C>A (p.Pro531Thr) | |
3 | g.119414012C>G | CA354049011 | ARHGAP31 | c.2083C>G (p.Pro695Ala) c.1990C>G (p.Pro664Ala) c.2023C>G (p.Pro675Ala) c.1591C>G (p.Pro531Ala) | |
3 | g.119414012C>T | CA354049013 | ARHGAP31 | c.2083C>T (p.Pro695Ser) c.1990C>T (p.Pro664Ser) c.2023C>T (p.Pro675Ser) c.1591C>T (p.Pro531Ser) | |
3 | g.119414013C>A | CA354049016 | ARHGAP31 | c.2084C>A (p.Pro695His) c.1991C>A (p.Pro664His) c.2024C>A (p.Pro675His) c.1592C>A (p.Pro531His) | |
3 | g.119414013C>G | CA354049018 | ARHGAP31 | c.2084C>G (p.Pro695Arg) c.1991C>G (p.Pro664Arg) c.2024C>G (p.Pro675Arg) c.1592C>G (p.Pro531Arg) | |
3 | g.119414013C>T | CA354049022 | ARHGAP31 | c.2084C>T (p.Pro695Leu) c.1991C>T (p.Pro664Leu) c.2024C>T (p.Pro675Leu) c.1592C>T (p.Pro531Leu) | |
3 | g.119414014C>A | CA435411519 | ARHGAP31 | c.2085C>A (p.Pro695=) c.1992C>A (p.Pro664=) c.2025C>A (p.Pro675=) c.1593C>A (p.Pro531=) | |
3 | g.119414014C>G | CA435411521 | ARHGAP31 | c.2085C>G (p.Pro695=) c.1992C>G (p.Pro664=) c.2025C>G (p.Pro675=) c.1593C>G (p.Pro531=) | |
3 | g.119414014C>T | CA435411520 | ARHGAP31 | c.2085C>T (p.Pro695=) c.1992C>T (p.Pro664=) c.2025C>T (p.Pro675=) c.1593C>T (p.Pro531=) | |
3 | g.119414015T>A | CA354049028 | ARHGAP31 | c.2086T>A (p.Ser696Thr) c.1993T>A (p.Ser665Thr) c.2026T>A (p.Ser676Thr) c.1594T>A (p.Ser532Thr) | |
3 | g.119414015T>C | CA354049031 | ARHGAP31 | c.2086T>C (p.Ser696Pro) c.1993T>C (p.Ser665Pro) c.2026T>C (p.Ser676Pro) c.1594T>C (p.Ser532Pro) | |
3 | g.119414015T>G | CA354049029 | ARHGAP31 | c.2086T>G (p.Ser696Ala) c.1993T>G (p.Ser665Ala) c.2026T>G (p.Ser676Ala) c.1594T>G (p.Ser532Ala) | |
3 | g.119414016C>A | CA354049037 | ARHGAP31 | c.2087C>A (p.Ser696Ter) c.1994C>A (p.Ser665Ter) c.2027C>A (p.Ser676Ter) c.1595C>A (p.Ser532Ter) | |
3 | g.119414016C>G | CA354049042 | ARHGAP31 | c.2087C>G (p.Ser696Ter) c.1994C>G (p.Ser665Ter) c.2027C>G (p.Ser676Ter) c.1595C>G (p.Ser532Ter) | |
3 | g.119414016C>T | CA354049046 | ARHGAP31 | c.2087C>T (p.Ser696Leu) c.1994C>T (p.Ser665Leu) c.2027C>T (p.Ser676Leu) c.1595C>T (p.Ser532Leu) | |
3 | g.119414017A= | CA1396548517 | ARHGAP31 | c.2088A= (p.Ser696=) c.1995A= (p.Ser665=) c.2028A= (p.Ser676=) c.1596A= (p.Ser532=) | |
3 | g.119414017A>C | CA435411523 | ARHGAP31 | c.2088A>C (p.Ser696=) c.1995A>C (p.Ser665=) c.2028A>C (p.Ser676=) c.1596A>C (p.Ser532=) | |
3 | g.119414017A>G | CA2553968 | ARHGAP31 | c.2088A>G (p.Ser696=) c.1995A>G (p.Ser665=) c.2028A>G (p.Ser676=) c.1596A>G (p.Ser532=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.119414017A>T | CA435411524 | ARHGAP31 | c.2088A>T (p.Ser696=) c.1995A>T (p.Ser665=) c.2028A>T (p.Ser676=) c.1596A>T (p.Ser532=) | |
3 | g.119414018G>A | CA354049056 | ARHGAP31 | c.2089G>A (p.Glu697Lys) c.1996G>A (p.Glu666Lys) c.2029G>A (p.Glu677Lys) c.1597G>A (p.Glu533Lys) | |
3 | g.119414018G>C | CA354049065 | ARHGAP31 | c.2089G>C (p.Glu697Gln) c.1996G>C (p.Glu666Gln) c.2029G>C (p.Glu677Gln) c.1597G>C (p.Glu533Gln) | |
3 | g.119414018G>T | CA354049059 | ARHGAP31 | c.2089G>T (p.Glu697Ter) c.1996G>T (p.Glu666Ter) c.2029G>T (p.Glu677Ter) c.1597G>T (p.Glu533Ter) | |
3 | g.119414019A>C | CA354049069 | ARHGAP31 | c.2090A>C (p.Glu697Ala) c.1997A>C (p.Glu666Ala) c.2030A>C (p.Glu677Ala) c.1598A>C (p.Glu533Ala) | |
3 | g.119414019A>G | CA354049073 | ARHGAP31 | c.2090A>G (p.Glu697Gly) c.1997A>G (p.Glu666Gly) c.2030A>G (p.Glu677Gly) c.1598A>G (p.Glu533Gly) | |
3 | g.119414019A>T | CA354049075 | ARHGAP31 | c.2090A>T (p.Glu697Val) c.1997A>T (p.Glu666Val) c.2030A>T (p.Glu677Val) c.1598A>T (p.Glu533Val) | |
3 | g.119414020G>A | CA435411526 | ARHGAP31 | c.2091G>A (p.Glu697=) c.1998G>A (p.Glu666=) c.2031G>A (p.Glu677=) c.1599G>A (p.Glu533=) | |
3 | g.119414020G>C | CA354049079 | ARHGAP31 | c.2091G>C (p.Glu697Asp) c.1998G>C (p.Glu666Asp) c.2031G>C (p.Glu677Asp) c.1599G>C (p.Glu533Asp) | |
3 | g.119414020G>T | CA354049082 | ARHGAP31 | c.2091G>T (p.Glu697Asp) c.1998G>T (p.Glu666Asp) c.2031G>T (p.Glu677Asp) c.1599G>T (p.Glu533Asp) | |
3 | g.119414021C>A | CA354049087 | ARHGAP31 | c.2092C>A (p.Pro698Thr) c.1999C>A (p.Pro667Thr) c.2032C>A (p.Pro678Thr) c.1600C>A (p.Pro534Thr) | |
3 | g.119414021C>G | CA354049088 | ARHGAP31 | c.2092C>G (p.Pro698Ala) c.1999C>G (p.Pro667Ala) c.2032C>G (p.Pro678Ala) c.1600C>G (p.Pro534Ala) | |
3 | g.119414021C>T | CA354049089 | ARHGAP31 | c.2092C>T (p.Pro698Ser) c.1999C>T (p.Pro667Ser) c.2032C>T (p.Pro678Ser) c.1600C>T (p.Pro534Ser) | gnomAD v4 |
3 | g.119414022C>A | CA354049090 | ARHGAP31 | c.2093C>A (p.Pro698His) c.2000C>A (p.Pro667His) c.2033C>A (p.Pro678His) c.1601C>A (p.Pro534His) | |
3 | g.119414022C= | CA1396548518 | ARHGAP31 | c.2093C= (p.Pro698=) c.2000C= (p.Pro667=) c.2033C= (p.Pro678=) c.1601C= (p.Pro534=) | |
3 | g.119414022C>G | CA2553969 | ARHGAP31 | c.2093C>G (p.Pro698Arg) c.2000C>G (p.Pro667Arg) c.2033C>G (p.Pro678Arg) c.1601C>G (p.Pro534Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119414022C>T | CA354049094 | ARHGAP31 | c.2093C>T (p.Pro698Leu) c.2000C>T (p.Pro667Leu) c.2033C>T (p.Pro678Leu) c.1601C>T (p.Pro534Leu) | |
3 | g.119414023T>A | CA435411530 | ARHGAP31 | c.2094T>A (p.Pro698=) c.2001T>A (p.Pro667=) c.2034T>A (p.Pro678=) c.1602T>A (p.Pro534=) | |
3 | g.119414023T>C | CA435411531 | ARHGAP31 | c.2094T>C (p.Pro698=) c.2001T>C (p.Pro667=) c.2034T>C (p.Pro678=) c.1602T>C (p.Pro534=) | |
3 | g.119414023T>G | CA435411532 | ARHGAP31 | c.2094T>G (p.Pro698=) c.2001T>G (p.Pro667=) c.2034T>G (p.Pro678=) c.1602T>G (p.Pro534=) | |
3 | g.119414024C>A | CA354049097 | ARHGAP31 | c.2095C>A (p.Pro699Thr) c.2002C>A (p.Pro668Thr) c.2035C>A (p.Pro679Thr) c.1603C>A (p.Pro535Thr) | |
3 | g.119414024C>G | CA354049102 | ARHGAP31 | c.2095C>G (p.Pro699Ala) c.2002C>G (p.Pro668Ala) c.2035C>G (p.Pro679Ala) c.1603C>G (p.Pro535Ala) | gnomAD v4 |
3 | g.119414024C>T | CA354049100 | ARHGAP31 | c.2095C>T (p.Pro699Ser) c.2002C>T (p.Pro668Ser) c.2035C>T (p.Pro679Ser) c.1603C>T (p.Pro535Ser) | |
3 | g.119414025C>A | CA354049106 | ARHGAP31 | c.2096C>A (p.Pro699His) c.2003C>A (p.Pro668His) c.2036C>A (p.Pro679His) c.1604C>A (p.Pro535His) | |
3 | g.119414025C>G | CA354049123 | ARHGAP31 | c.2096C>G (p.Pro699Arg) c.2003C>G (p.Pro668Arg) c.2036C>G (p.Pro679Arg) c.1604C>G (p.Pro535Arg) | |
3 | g.119414025C>T | CA354049119 | ARHGAP31 | c.2096C>T (p.Pro699Leu) c.2003C>T (p.Pro668Leu) c.2036C>T (p.Pro679Leu) c.1604C>T (p.Pro535Leu) | gnomAD v4 |
3 | g.119414026T>A | CA435411534 | ARHGAP31 | c.2097T>A (p.Pro699=) c.2004T>A (p.Pro668=) c.2037T>A (p.Pro679=) c.1605T>A (p.Pro535=) | |
3 | g.119414026T>C | CA435411536 | ARHGAP31 | c.2097T>C (p.Pro699=) c.2004T>C (p.Pro668=) c.2037T>C (p.Pro679=) c.1605T>C (p.Pro535=) | |
3 | g.119414026T>G | CA435411535 | ARHGAP31 | c.2097T>G (p.Pro699=) c.2004T>G (p.Pro668=) c.2037T>G (p.Pro679=) c.1605T>G (p.Pro535=) | gnomAD v4 |
3 | g.119414027G>A | CA354049125 | ARHGAP31 | c.2098G>A (p.Gly700Arg) c.2005G>A (p.Gly669Arg) c.2038G>A (p.Gly680Arg) c.1606G>A (p.Gly536Arg) | |
3 | g.119414027G>C | CA354049126 | ARHGAP31 | c.2098G>C (p.Gly700Arg) c.2005G>C (p.Gly669Arg) c.2038G>C (p.Gly680Arg) c.1606G>C (p.Gly536Arg) | |
3 | g.119414027G>T | CA354049127 | ARHGAP31 | c.2098G>T (p.Gly700Trp) c.2005G>T (p.Gly669Trp) c.2038G>T (p.Gly680Trp) c.1606G>T (p.Gly536Trp) | COSMIC |
3 | g.119414028G>A | CA2553970 | ARHGAP31 | c.2099G>A (p.Gly700Glu) c.2006G>A (p.Gly669Glu) c.2039G>A (p.Gly680Glu) c.1607G>A (p.Gly536Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.119414028G>C | CA354049129 | ARHGAP31 | c.2099G>C (p.Gly700Ala) c.2006G>C (p.Gly669Ala) c.2039G>C (p.Gly680Ala) c.1607G>C (p.Gly536Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119414028G= | CA1396548519 | ARHGAP31 | c.2099G= (p.Gly700=) c.2006G= (p.Gly669=) c.2039G= (p.Gly680=) c.1607G= (p.Gly536=) | |
3 | g.119414028G>T | CA354049131 | ARHGAP31 | c.2099G>T (p.Gly700Val) c.2006G>T (p.Gly669Val) c.2039G>T (p.Gly680Val) c.1607G>T (p.Gly536Val) | |
3 | g.119414029G>A | CA435411537 | ARHGAP31 | c.2100G>A (p.Gly700=) c.2007G>A (p.Gly669=) c.2040G>A (p.Gly680=) c.1608G>A (p.Gly536=) | |
3 | g.119414029G>C | CA435411538 | ARHGAP31 | c.2100G>C (p.Gly700=) c.2007G>C (p.Gly669=) c.2040G>C (p.Gly680=) c.1608G>C (p.Gly536=) | |
3 | g.119414029G>T | CA435411540 | ARHGAP31 | c.2100G>T (p.Gly700=) c.2007G>T (p.Gly669=) c.2040G>T (p.Gly680=) c.1608G>T (p.Gly536=) | |
3 | g.119414030A>C | CA354049134 | ARHGAP31 | c.2101A>C (p.Ser701Arg) c.2008A>C (p.Ser670Arg) c.2041A>C (p.Ser681Arg) c.1609A>C (p.Ser537Arg) | |
3 | g.119414030A>G | CA354049137 | ARHGAP31 | c.2101A>G (p.Ser701Gly) c.2008A>G (p.Ser670Gly) c.2041A>G (p.Ser681Gly) c.1609A>G (p.Ser537Gly) | |
3 | g.119414030A>T | CA354049140 | ARHGAP31 | c.2101A>T (p.Ser701Cys) c.2008A>T (p.Ser670Cys) c.2041A>T (p.Ser681Cys) c.1609A>T (p.Ser537Cys) | |
3 | g.119414031G>A | CA354049142 | ARHGAP31 | c.2102G>A (p.Ser701Asn) c.2009G>A (p.Ser670Asn) c.2042G>A (p.Ser681Asn) c.1610G>A (p.Ser537Asn) | |
3 | g.119414031G>C | CA354049144 | ARHGAP31 | c.2102G>C (p.Ser701Thr) c.2009G>C (p.Ser670Thr) c.2042G>C (p.Ser681Thr) c.1610G>C (p.Ser537Thr) | |
3 | g.119414031G>T | CA354049146 | ARHGAP31 | c.2102G>T (p.Ser701Ile) c.2009G>T (p.Ser670Ile) c.2042G>T (p.Ser681Ile) c.1610G>T (p.Ser537Ile) | |
3 | g.119414032C>A | CA354049152 | ARHGAP31 | c.2103C>A (p.Ser701Arg) c.2010C>A (p.Ser670Arg) c.2043C>A (p.Ser681Arg) c.1611C>A (p.Ser537Arg) | |
3 | g.119414032C>G | CA354049150 | ARHGAP31 | c.2103C>G (p.Ser701Arg) c.2010C>G (p.Ser670Arg) c.2043C>G (p.Ser681Arg) c.1611C>G (p.Ser537Arg) | |
3 | g.119414032C>T | CA435411544 | ARHGAP31 | c.2103C>T (p.Ser701=) c.2010C>T (p.Ser670=) c.2043C>T (p.Ser681=) c.1611C>T (p.Ser537=) | |
3 | g.119414033T>A | CA354049154 | ARHGAP31 | c.2104T>A (p.Leu702Met) c.2011T>A (p.Leu671Met) c.2044T>A (p.Leu682Met) c.1612T>A (p.Leu538Met) | |
3 | g.119414033T>C | CA435411545 | ARHGAP31 | c.2104T>C (p.Leu702=) c.2011T>C (p.Leu671=) c.2044T>C (p.Leu682=) c.1612T>C (p.Leu538=) | |
3 | g.119414033T>G | CA354049157 | ARHGAP31 | c.2104T>G (p.Leu702Val) c.2011T>G (p.Leu671Val) c.2044T>G (p.Leu682Val) c.1612T>G (p.Leu538Val) | |
3 | g.119414034T>A | CA354049161 | ARHGAP31 | c.2105T>A (p.Leu702Ter) c.2012T>A (p.Leu671Ter) c.2045T>A (p.Leu682Ter) c.1613T>A (p.Leu538Ter) | |
3 | g.119414034T>C | CA354049163 | ARHGAP31 | c.2105T>C (p.Leu702Ser) c.2012T>C (p.Leu671Ser) c.2045T>C (p.Leu682Ser) c.1613T>C (p.Leu538Ser) | |
3 | g.119414034T>G | CA354049165 | ARHGAP31 | c.2105T>G (p.Leu702Trp) c.2012T>G (p.Leu671Trp) c.2045T>G (p.Leu682Trp) c.1613T>G (p.Leu538Trp) | |
3 | g.119414035G>A | CA81697392 | ARHGAP31 | c.2106G>A (p.Leu702=) c.2013G>A (p.Leu671=) c.2046G>A (p.Leu682=) c.1614G>A (p.Leu538=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119414035G>C | CA354049172 | ARHGAP31 | c.2106G>C (p.Leu702Phe) c.2013G>C (p.Leu671Phe) c.2046G>C (p.Leu682Phe) c.1614G>C (p.Leu538Phe) | |
3 | g.119414035G= | CA1396548520 | ARHGAP31 | c.2106G= (p.Leu702=) c.2013G= (p.Leu671=) c.2046G= (p.Leu682=) c.1614G= (p.Leu538=) | |
3 | g.119414035G>T | CA354049169 | ARHGAP31 | c.2106G>T (p.Leu702Phe) c.2013G>T (p.Leu671Phe) c.2046G>T (p.Leu682Phe) c.1614G>T (p.Leu538Phe) | |
3 | g.119414036C>A | CA354049176 | ARHGAP31 | c.2107C>A (p.Pro703Thr) c.2014C>A (p.Pro672Thr) c.2047C>A (p.Pro683Thr) c.1615C>A (p.Pro539Thr) | |
3 | g.119414036C>G | CA354049179 | ARHGAP31 | c.2107C>G (p.Pro703Ala) c.2014C>G (p.Pro672Ala) c.2047C>G (p.Pro683Ala) c.1615C>G (p.Pro539Ala) | |
3 | g.119414036C>T | CA354049182 | ARHGAP31 | c.2107C>T (p.Pro703Ser) c.2014C>T (p.Pro672Ser) c.2047C>T (p.Pro683Ser) c.1615C>T (p.Pro539Ser) | |
3 | g.119414037C>A | CA354049187 | ARHGAP31 | c.2108C>A (p.Pro703His) c.2015C>A (p.Pro672His) c.2048C>A (p.Pro683His) c.1616C>A (p.Pro539His) | |
3 | g.119414037C>G | CA354049188 | ARHGAP31 | c.2108C>G (p.Pro703Arg) c.2015C>G (p.Pro672Arg) c.2048C>G (p.Pro683Arg) c.1616C>G (p.Pro539Arg) | |
3 | g.119414037C>T | CA354049190 | ARHGAP31 | c.2108C>T (p.Pro703Leu) c.2015C>T (p.Pro672Leu) c.2048C>T (p.Pro683Leu) c.1616C>T (p.Pro539Leu) | |
3 | g.119414038T>A | CA435411547 | ARHGAP31 | c.2109T>A (p.Pro703=) c.2016T>A (p.Pro672=) c.2049T>A (p.Pro683=) c.1617T>A (p.Pro539=) | |
3 | g.119414038T>C | CA435411548 | ARHGAP31 | c.2109T>C (p.Pro703=) c.2016T>C (p.Pro672=) c.2049T>C (p.Pro683=) c.1617T>C (p.Pro539=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.119414038T>G | CA435411549 | ARHGAP31 | c.2109T>G (p.Pro703=) c.2016T>G (p.Pro672=) c.2049T>G (p.Pro683=) c.1617T>G (p.Pro539=) | |
3 | g.119414038T= | CA1396548521 | ARHGAP31 | c.2109T= (p.Pro703=) c.2016T= (p.Pro672=) c.2049T= (p.Pro683=) c.1617T= (p.Pro539=) | |
3 | g.119414039T>A | CA354049200 | ARHGAP31 | c.2110T>A (p.Cys704Ser) c.2017T>A (p.Cys673Ser) c.2050T>A (p.Cys684Ser) c.1618T>A (p.Cys540Ser) | |
3 | g.119414039T>C | CA354049205 | ARHGAP31 | c.2110T>C (p.Cys704Arg) c.2017T>C (p.Cys673Arg) c.2050T>C (p.Cys684Arg) c.1618T>C (p.Cys540Arg) | |
3 | g.119414039T>G | CA354049203 | ARHGAP31 | c.2110T>G (p.Cys704Gly) c.2017T>G (p.Cys673Gly) c.2050T>G (p.Cys684Gly) c.1618T>G (p.Cys540Gly) | |
3 | g.119414040G>A | CA354049209 | ARHGAP31 | c.2111G>A (p.Cys704Tyr) c.2018G>A (p.Cys673Tyr) c.2051G>A (p.Cys684Tyr) c.1619G>A (p.Cys540Tyr) | gnomAD v4 |
3 | g.119414040G>C | CA354049212 | ARHGAP31 | c.2111G>C (p.Cys704Ser) c.2018G>C (p.Cys673Ser) c.2051G>C (p.Cys684Ser) c.1619G>C (p.Cys540Ser) | dbSNP gnomAD v4 |
3 | g.119414040G= | CA1396548522 | ARHGAP31 | c.2111G= (p.Cys704=) c.2018G= (p.Cys673=) c.2051G= (p.Cys684=) c.1619G= (p.Cys540=) | |
3 | g.119414040G>T | CA354049213 | ARHGAP31 | c.2111G>T (p.Cys704Phe) c.2018G>T (p.Cys673Phe) c.2051G>T (p.Cys684Phe) c.1619G>T (p.Cys540Phe) | |
3 | g.119414041T>A | CA354049215 | ARHGAP31 | c.2112T>A (p.Cys704Ter) c.2019T>A (p.Cys673Ter) c.2052T>A (p.Cys684Ter) c.1620T>A (p.Cys540Ter) | |
3 | g.119414041T>C | CA435411552 | ARHGAP31 | c.2112T>C (p.Cys704=) c.2019T>C (p.Cys673=) c.2052T>C (p.Cys684=) c.1620T>C (p.Cys540=) | |
3 | g.119414041T>G | CA354049217 | ARHGAP31 | c.2112T>G (p.Cys704Trp) c.2019T>G (p.Cys673Trp) c.2052T>G (p.Cys684Trp) c.1620T>G (p.Cys540Trp) | |
3 | g.119414042G>A | CA354049223 | ARHGAP31 | c.2113G>A (p.Gly705Ser) c.2020G>A (p.Gly674Ser) c.2053G>A (p.Gly685Ser) c.1621G>A (p.Gly541Ser) | |
3 | g.119414042G>C | CA354049222 | ARHGAP31 | c.2113G>C (p.Gly705Arg) c.2020G>C (p.Gly674Arg) c.2053G>C (p.Gly685Arg) c.1621G>C (p.Gly541Arg) | |
3 | g.119414042G>T | CA354049219 | ARHGAP31 | c.2113G>T (p.Gly705Cys) c.2020G>T (p.Gly674Cys) c.2053G>T (p.Gly685Cys) c.1621G>T (p.Gly541Cys) | |
3 | g.119414043G>A | CA354049226 | ARHGAP31 | c.2114G>A (p.Gly705Asp) c.2021G>A (p.Gly674Asp) c.2054G>A (p.Gly685Asp) c.1622G>A (p.Gly541Asp) | gnomAD v4 |
3 | g.119414043G>C | CA354049228 | ARHGAP31 | c.2114G>C (p.Gly705Ala) c.2021G>C (p.Gly674Ala) c.2054G>C (p.Gly685Ala) c.1622G>C (p.Gly541Ala) | |
3 | g.119414043G>T | CA354049232 | ARHGAP31 | c.2114G>T (p.Gly705Val) c.2021G>T (p.Gly674Val) c.2054G>T (p.Gly685Val) c.1622G>T (p.Gly541Val) | |
3 | g.119414044C>A | CA435411553 | ARHGAP31 | c.2115C>A (p.Gly705=) c.2022C>A (p.Gly674=) c.2055C>A (p.Gly685=) c.1623C>A (p.Gly541=) | |
3 | g.119414044C>G | CA435411554 | ARHGAP31 | c.2115C>G (p.Gly705=) c.2022C>G (p.Gly674=) c.2055C>G (p.Gly685=) c.1623C>G (p.Gly541=) | |
3 | g.119414044C>T | CA435411555 | ARHGAP31 | c.2115C>T (p.Gly705=) c.2022C>T (p.Gly674=) c.2055C>T (p.Gly685=) c.1623C>T (p.Gly541=) | |
3 | g.119414045T>A | CA354049236 | ARHGAP31 | c.2116T>A (p.Ser706Thr) c.2023T>A (p.Ser675Thr) c.2056T>A (p.Ser686Thr) c.1624T>A (p.Ser542Thr) | |
3 | g.119414045T>C | CA354049238 | ARHGAP31 | c.2116T>C (p.Ser706Pro) c.2023T>C (p.Ser675Pro) c.2056T>C (p.Ser686Pro) c.1624T>C (p.Ser542Pro) | |
3 | g.119414045T>G | CA354049239 | ARHGAP31 | c.2116T>G (p.Ser706Ala) c.2023T>G (p.Ser675Ala) c.2056T>G (p.Ser686Ala) c.1624T>G (p.Ser542Ala) | gnomAD v4 COSMIC |
3 | g.119414046C>A | CA354049244 | ARHGAP31 | c.2117C>A (p.Ser706Tyr) c.2024C>A (p.Ser675Tyr) c.2057C>A (p.Ser686Tyr) c.1625C>A (p.Ser542Tyr) | |
3 | g.119414046C= | CA1396548523 | ARHGAP31 | c.2117C= (p.Ser706=) c.2024C= (p.Ser675=) c.2057C= (p.Ser686=) c.1625C= (p.Ser542=) | |
3 | g.119414046C>G | CA354049248 | ARHGAP31 | c.2117C>G (p.Ser706Cys) c.2024C>G (p.Ser675Cys) c.2057C>G (p.Ser686Cys) c.1625C>G (p.Ser542Cys) | |
3 | g.119414046C>T | CA354049245 | ARHGAP31 | c.2117C>T (p.Ser706Phe) c.2024C>T (p.Ser675Phe) c.2057C>T (p.Ser686Phe) c.1625C>T (p.Ser542Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119414047C>A | CA435411557 | ARHGAP31 | c.2118C>A (p.Ser706=) c.2025C>A (p.Ser675=) c.2058C>A (p.Ser686=) c.1626C>A (p.Ser542=) | |
3 | g.119414047C>G | CA435411559 | ARHGAP31 | c.2118C>G (p.Ser706=) c.2025C>G (p.Ser675=) c.2058C>G (p.Ser686=) c.1626C>G (p.Ser542=) | |
3 | g.119414047C>T | CA435411558 | ARHGAP31 | c.2118C>T (p.Ser706=) c.2025C>T (p.Ser675=) c.2058C>T (p.Ser686=) c.1626C>T (p.Ser542=) | |
3 | g.119414048T>A | CA354049250 | ARHGAP31 | c.2119T>A (p.Phe707Ile) c.2026T>A (p.Phe676Ile) c.2059T>A (p.Phe687Ile) c.1627T>A (p.Phe543Ile) | |
3 | g.119414048T>C | CA2553971 | ARHGAP31 | c.2119T>C (p.Phe707Leu) c.2026T>C (p.Phe676Leu) c.2059T>C (p.Phe687Leu) c.1627T>C (p.Phe543Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119414048T>G | CA354049253 | ARHGAP31 | c.2119T>G (p.Phe707Val) c.2026T>G (p.Phe676Val) c.2059T>G (p.Phe687Val) c.1627T>G (p.Phe543Val) | |
3 | g.119414048T= | CA1396548524 | ARHGAP31 | c.2119T= (p.Phe707=) c.2026T= (p.Phe676=) c.2059T= (p.Phe687=) c.1627T= (p.Phe543=) | |
3 | g.119414049T>A | CA354049255 | ARHGAP31 | c.2120T>A (p.Phe707Tyr) c.2027T>A (p.Phe676Tyr) c.2060T>A (p.Phe687Tyr) c.1628T>A (p.Phe543Tyr) | |
3 | g.119414049T>C | CA354049257 | ARHGAP31 | c.2120T>C (p.Phe707Ser) c.2027T>C (p.Phe676Ser) c.2060T>C (p.Phe687Ser) c.1628T>C (p.Phe543Ser) | |
3 | g.119414049T>G | CA354049259 | ARHGAP31 | c.2120T>G (p.Phe707Cys) c.2027T>G (p.Phe676Cys) c.2060T>G (p.Phe687Cys) c.1628T>G (p.Phe543Cys) | |
3 | g.119414050C>A | CA354049266 | ARHGAP31 | c.2121C>A (p.Phe707Leu) c.2028C>A (p.Phe676Leu) c.2061C>A (p.Phe687Leu) c.1629C>A (p.Phe543Leu) | |
3 | g.119414050C>G | CA354049268 | ARHGAP31 | c.2121C>G (p.Phe707Leu) c.2028C>G (p.Phe676Leu) c.2061C>G (p.Phe687Leu) c.1629C>G (p.Phe543Leu) | |
3 | g.119414050C>T | CA435411563 | ARHGAP31 | c.2121C>T (p.Phe707=) c.2028C>T (p.Phe676=) c.2061C>T (p.Phe687=) c.1629C>T (p.Phe543=) | |
3 | g.119414051C>A | CA354049274 | ARHGAP31 | c.2122C>A (p.Pro708Thr) c.2029C>A (p.Pro677Thr) c.2062C>A (p.Pro688Thr) c.1630C>A (p.Pro544Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119414051C= | CA1396548525 | ARHGAP31 | c.2122C= (p.Pro708=) c.2029C= (p.Pro677=) c.2062C= (p.Pro688=) c.1630C= (p.Pro544=) | |
3 | g.119414051C>G | CA354049276 | ARHGAP31 | c.2122C>G (p.Pro708Ala) c.2029C>G (p.Pro677Ala) c.2062C>G (p.Pro688Ala) c.1630C>G (p.Pro544Ala) | |
3 | g.119414051C>T | CA354049279 | ARHGAP31 | c.2122C>T (p.Pro708Ser) c.2029C>T (p.Pro677Ser) c.2062C>T (p.Pro688Ser) c.1630C>T (p.Pro544Ser) | |
3 | g.119414052C>A | CA354049282 | ARHGAP31 | c.2123C>A (p.Pro708His) c.2030C>A (p.Pro677His) c.2063C>A (p.Pro688His) c.1631C>A (p.Pro544His) | |
3 | g.119414052C>G | CA354049288 | ARHGAP31 | c.2123C>G (p.Pro708Arg) c.2030C>G (p.Pro677Arg) c.2063C>G (p.Pro688Arg) c.1631C>G (p.Pro544Arg) | |
3 | g.119414052C>T | CA354049284 | ARHGAP31 | c.2123C>T (p.Pro708Leu) c.2030C>T (p.Pro677Leu) c.2063C>T (p.Pro688Leu) c.1631C>T (p.Pro544Leu) | |
3 | g.119414053T>A | CA435411564 | ARHGAP31 | c.2124T>A (p.Pro708=) c.2031T>A (p.Pro677=) c.2064T>A (p.Pro688=) c.1632T>A (p.Pro544=) | |
3 | g.119414053T>C | CA435411565 | ARHGAP31 | c.2124T>C (p.Pro708=) c.2031T>C (p.Pro677=) c.2064T>C (p.Pro688=) c.1632T>C (p.Pro544=) | gnomAD v4 |
3 | g.119414053T>G | CA435411566 | ARHGAP31 | c.2124T>G (p.Pro708=) c.2031T>G (p.Pro677=) c.2064T>G (p.Pro688=) c.1632T>G (p.Pro544=) | |
3 | g.119414054G>A | CA2553972 | ARHGAP31 | c.2125G>A (p.Ala709Thr) c.2032G>A (p.Ala678Thr) c.2065G>A (p.Ala689Thr) c.1633G>A (p.Ala545Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119414054G>C | CA354049293 | ARHGAP31 | c.2125G>C (p.Ala709Pro) c.2032G>C (p.Ala678Pro) c.2065G>C (p.Ala689Pro) c.1633G>C (p.Ala545Pro) | |
3 | g.119414054G= | CA1396548526 | ARHGAP31 | c.2125G= (p.Ala709=) c.2032G= (p.Ala678=) c.2065G= (p.Ala689=) c.1633G= (p.Ala545=) | |
3 | g.119414054G>T | CA354049296 | ARHGAP31 | c.2125G>T (p.Ala709Ser) c.2032G>T (p.Ala678Ser) c.2065G>T (p.Ala689Ser) c.1633G>T (p.Ala545Ser) | |
3 | g.119414055C>A | CA354049301 | ARHGAP31 | c.2126C>A (p.Ala709Asp) c.2033C>A (p.Ala678Asp) c.2066C>A (p.Ala689Asp) c.1634C>A (p.Ala545Asp) | |
3 | g.119414055C>G | CA354049304 | ARHGAP31 | c.2126C>G (p.Ala709Gly) c.2033C>G (p.Ala678Gly) c.2066C>G (p.Ala689Gly) c.1634C>G (p.Ala545Gly) | |
3 | g.119414055C>T | CA354049305 | ARHGAP31 | c.2126C>T (p.Ala709Val) c.2033C>T (p.Ala678Val) c.2066C>T (p.Ala689Val) c.1634C>T (p.Ala545Val) | |
3 | g.119414056T>A | CA435411569 | ARHGAP31 | c.2127T>A (p.Ala709=) c.2034T>A (p.Ala678=) c.2067T>A (p.Ala689=) c.1635T>A (p.Ala545=) | |
3 | g.119414056T>C | CA435411570 | ARHGAP31 | c.2127T>C (p.Ala709=) c.2034T>C (p.Ala678=) c.2067T>C (p.Ala689=) c.1635T>C (p.Ala545=) | gnomAD v4 |
3 | g.119414056T>G | CA435411568 | ARHGAP31 | c.2127T>G (p.Ala709=) c.2034T>G (p.Ala678=) c.2067T>G (p.Ala689=) c.1635T>G (p.Ala545=) | |
3 | g.119414057C>A | CA354049313 | ARHGAP31 | c.2128C>A (p.Pro710Thr) c.2035C>A (p.Pro679Thr) c.2068C>A (p.Pro690Thr) c.1636C>A (p.Pro546Thr) | |
3 | g.119414057C>G | CA354049312 | ARHGAP31 | c.2128C>G (p.Pro710Ala) c.2035C>G (p.Pro679Ala) c.2068C>G (p.Pro690Ala) c.1636C>G (p.Pro546Ala) | |
3 | g.119414057C>T | CA354049309 | ARHGAP31 | c.2128C>T (p.Pro710Ser) c.2035C>T (p.Pro679Ser) c.2068C>T (p.Pro690Ser) c.1636C>T (p.Pro546Ser) | COSMIC |
3 | g.119414058C>A | CA354049314 | ARHGAP31 | c.2129C>A (p.Pro710Gln) c.2036C>A (p.Pro679Gln) c.2069C>A (p.Pro690Gln) c.1637C>A (p.Pro546Gln) | |
3 | g.119414058C>G | CA354049315 | ARHGAP31 | c.2129C>G (p.Pro710Arg) c.2036C>G (p.Pro679Arg) c.2069C>G (p.Pro690Arg) c.1637C>G (p.Pro546Arg) | |
3 | g.119414058C>T | CA354049317 | ARHGAP31 | c.2129C>T (p.Pro710Leu) c.2036C>T (p.Pro679Leu) c.2069C>T (p.Pro690Leu) c.1637C>T (p.Pro546Leu) | |
3 | g.119414059A= | CA1396548527 | ARHGAP31 | c.2130A= (p.Pro710=) c.2037A= (p.Pro679=) c.2070A= (p.Pro690=) c.1638A= (p.Pro546=) | |
3 | g.119414059A>C | CA435411571 | ARHGAP31 | c.2130A>C (p.Pro710=) c.2037A>C (p.Pro679=) c.2070A>C (p.Pro690=) c.1638A>C (p.Pro546=) | dbSNP |
3 | g.119414059A>G | CA435411573 | ARHGAP31 | c.2130A>G (p.Pro710=) c.2037A>G (p.Pro679=) c.2070A>G (p.Pro690=) c.1638A>G (p.Pro546=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.119414059A>T | CA435411575 | ARHGAP31 | c.2130A>T (p.Pro710=) c.2037A>T (p.Pro679=) c.2070A>T (p.Pro690=) c.1638A>T (p.Pro546=) | |
3 | g.119414060G>A | CA354049319 | ARHGAP31 | c.2131G>A (p.Val711Ile) c.2038G>A (p.Val680Ile) c.2071G>A (p.Val691Ile) c.1639G>A (p.Val547Ile) | |
3 | g.119414060G>C | CA354049321 | ARHGAP31 | c.2131G>C (p.Val711Leu) c.2038G>C (p.Val680Leu) c.2071G>C (p.Val691Leu) c.1639G>C (p.Val547Leu) | |
3 | g.119414060G>T | CA354049325 | ARHGAP31 | c.2131G>T (p.Val711Phe) c.2038G>T (p.Val680Phe) c.2071G>T (p.Val691Phe) c.1639G>T (p.Val547Phe) | |
3 | g.119414061T>A | CA354049327 | ARHGAP31 | c.2132T>A (p.Val711Asp) c.2039T>A (p.Val680Asp) c.2072T>A (p.Val691Asp) c.1640T>A (p.Val547Asp) | |
3 | g.119414061T>C | CA354049332 | ARHGAP31 | c.2132T>C (p.Val711Ala) c.2039T>C (p.Val680Ala) c.2072T>C (p.Val691Ala) c.1640T>C (p.Val547Ala) | |
3 | g.119414061T>G | CA354049329 | ARHGAP31 | c.2132T>G (p.Val711Gly) c.2039T>G (p.Val680Gly) c.2072T>G (p.Val691Gly) c.1640T>G (p.Val547Gly) | |
3 | g.119414061_119414067delinsTCTCCAC | CA1396548528 | ARHGAP31 | c.2132_2138delinsTCTCCAC (p.Val711=) c.2039_2045delinsTCTCCAC (p.Val680=) c.2072_2078delinsTCTCCAC (p.Val691=) c.1640_1646delinsTCTCCAC (p.Val547=) | |
3 | g.119414062C>A | CA435411577 | ARHGAP31 | c.2133C>A (p.Val711=) c.2040C>A (p.Val680=) c.2073C>A (p.Val691=) c.1641C>A (p.Val547=) | |
3 | g.119414062C>G | CA435411578 | ARHGAP31 | c.2133C>G (p.Val711=) c.2040C>G (p.Val680=) c.2073C>G (p.Val691=) c.1641C>G (p.Val547=) | |
3 | g.119414062C>T | CA435411579 | ARHGAP31 | c.2133C>T (p.Val711=) c.2040C>T (p.Val680=) c.2073C>T (p.Val691=) c.1641C>T (p.Val547=) | |
3 | g.119414063_119414068del | CA2553973 | ARHGAP31 | c.2134_2139del (p.Ser712_Thr713del) c.2041_2046del (p.Ser681_Thr682del) c.2074_2079del (p.Ser692_Thr693del) c.1642_1647del (p.Ser548_Thr549del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119414063T>A | CA354049344 | ARHGAP31 | c.2134T>A (p.Ser712Thr) c.2041T>A (p.Ser681Thr) c.2074T>A (p.Ser692Thr) c.1642T>A (p.Ser548Thr) | |
3 | g.119414063T>C | CA354049346 | ARHGAP31 | c.2134T>C (p.Ser712Pro) c.2041T>C (p.Ser681Pro) c.2074T>C (p.Ser692Pro) c.1642T>C (p.Ser548Pro) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.119414063T>G | CA354049348 | ARHGAP31 | c.2134T>G (p.Ser712Ala) c.2041T>G (p.Ser681Ala) c.2074T>G (p.Ser692Ala) c.1642T>G (p.Ser548Ala) | |
3 | g.119414063T= | CA1396548529 | ARHGAP31 | c.2134T= (p.Ser712=) c.2041T= (p.Ser681=) c.2074T= (p.Ser692=) c.1642T= (p.Ser548=) | |
3 | g.119414064C>A | CA354049352 | ARHGAP31 | c.2135C>A (p.Ser712Tyr) c.2042C>A (p.Ser681Tyr) c.2075C>A (p.Ser692Tyr) c.1643C>A (p.Ser548Tyr) | |
3 | g.119414064C= | CA1396548530 | ARHGAP31 | c.2135C= (p.Ser712=) c.2042C= (p.Ser681=) c.2075C= (p.Ser692=) c.1643C= (p.Ser548=) | |
3 | g.119414064C>G | CA354049355 | ARHGAP31 | c.2135C>G (p.Ser712Cys) c.2042C>G (p.Ser681Cys) c.2075C>G (p.Ser692Cys) c.1643C>G (p.Ser548Cys) | gnomAD v4 |
3 | g.119414064C>T | CA81697411 | ARHGAP31 | c.2135C>T (p.Ser712Phe) c.2042C>T (p.Ser681Phe) c.2075C>T (p.Ser692Phe) c.1643C>T (p.Ser548Phe) | dbSNP gnomAD v2 gnomAD v4 |