| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | 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) |