Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
3 | g.119414065C>A | CA435411583 | ARHGAP31 | c.2136C>A (p.Ser712=) c.2043C>A (p.Ser681=) c.2076C>A (p.Ser692=) c.1644C>A (p.Ser548=) | |
3 | g.119414065C>G | CA435411584 | ARHGAP31 | c.2136C>G (p.Ser712=) c.2043C>G (p.Ser681=) c.2076C>G (p.Ser692=) c.1644C>G (p.Ser548=) | |
3 | g.119414065C>T | CA435411585 | ARHGAP31 | c.2136C>T (p.Ser712=) c.2043C>T (p.Ser681=) c.2076C>T (p.Ser692=) c.1644C>T (p.Ser548=) | |
3 | g.119414066A= | CA1396548531 | ARHGAP31 | c.2137A= (p.Thr713=) c.2044A= (p.Thr682=) c.2077A= (p.Thr693=) c.1645A= (p.Thr549=) | |
3 | g.119414066A>C | CA354049359 | ARHGAP31 | c.2137A>C (p.Thr713Pro) c.2044A>C (p.Thr682Pro) c.2077A>C (p.Thr693Pro) c.1645A>C (p.Thr549Pro) | dbSNP |
3 | g.119414066A>G | CA354049361 | ARHGAP31 | c.2137A>G (p.Thr713Ala) c.2044A>G (p.Thr682Ala) c.2077A>G (p.Thr693Ala) c.1645A>G (p.Thr549Ala) | dbSNP |
3 | g.119414066A>T | CA354049368 | ARHGAP31 | c.2137A>T (p.Thr713Ser) c.2044A>T (p.Thr682Ser) c.2077A>T (p.Thr693Ser) c.1645A>T (p.Thr549Ser) | |
3 | g.119414067C>A | CA354049373 | ARHGAP31 | c.2138C>A (p.Thr713Asn) c.2045C>A (p.Thr682Asn) c.2078C>A (p.Thr693Asn) c.1646C>A (p.Thr549Asn) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.119414067C= | CA1396548532 | ARHGAP31 | c.2138C= (p.Thr713=) c.2045C= (p.Thr682=) c.2078C= (p.Thr693=) c.1646C= (p.Thr549=) | |
3 | g.119414067C>G | CA354049379 | ARHGAP31 | c.2138C>G (p.Thr713Ser) c.2045C>G (p.Thr682Ser) c.2078C>G (p.Thr693Ser) c.1646C>G (p.Thr549Ser) | |
3 | g.119414067C>T | CA354049376 | ARHGAP31 | c.2138C>T (p.Thr713Ile) c.2045C>T (p.Thr682Ile) c.2078C>T (p.Thr693Ile) c.1646C>T (p.Thr549Ile) | |
3 | g.119414068C>A | CA435411587 | ARHGAP31 | c.2139C>A (p.Thr713=) c.2046C>A (p.Thr682=) c.2079C>A (p.Thr693=) c.1647C>A (p.Thr549=) | |
3 | g.119414068C= | CA1396548533 | ARHGAP31 | c.2139C= (p.Thr713=) c.2046C= (p.Thr682=) c.2079C= (p.Thr693=) c.1647C= (p.Thr549=) | |
3 | g.119414068C>G | CA435411589 | ARHGAP31 | c.2139C>G (p.Thr713=) c.2046C>G (p.Thr682=) c.2079C>G (p.Thr693=) c.1647C>G (p.Thr549=) | gnomAD v4 |
3 | g.119414068C>T | CA435411588 | ARHGAP31 | c.2139C>T (p.Thr713=) c.2046C>T (p.Thr682=) c.2079C>T (p.Thr693=) c.1647C>T (p.Thr549=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.119414069C>A | CA354049382 | ARHGAP31 | c.2140C>A (p.Pro714Thr) c.2047C>A (p.Pro683Thr) c.2080C>A (p.Pro694Thr) c.1648C>A (p.Pro550Thr) | |
3 | g.119414069C= | CA1396548534 | ARHGAP31 | c.2140C= (p.Pro714=) c.2047C= (p.Pro683=) c.2080C= (p.Pro694=) c.1648C= (p.Pro550=) | |
3 | g.119414069C>G | CA354049383 | ARHGAP31 | c.2140C>G (p.Pro714Ala) c.2047C>G (p.Pro683Ala) c.2080C>G (p.Pro694Ala) c.1648C>G (p.Pro550Ala) | |
3 | g.119414069C>T | CA2553974 | ARHGAP31 | c.2140C>T (p.Pro714Ser) c.2047C>T (p.Pro683Ser) c.2080C>T (p.Pro694Ser) c.1648C>T (p.Pro550Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119414070C>A | CA81697424 | ARHGAP31 | c.2141C>A (p.Pro714His) c.2048C>A (p.Pro683His) c.2081C>A (p.Pro694His) c.1649C>A (p.Pro550His) | dbSNP gnomAD v4 |
3 | g.119414070C= | CA1396548535 | ARHGAP31 | c.2141C= (p.Pro714=) c.2048C= (p.Pro683=) c.2081C= (p.Pro694=) c.1649C= (p.Pro550=) | |
3 | g.119414070C>G | CA354049391 | ARHGAP31 | c.2141C>G (p.Pro714Arg) c.2048C>G (p.Pro683Arg) c.2081C>G (p.Pro694Arg) c.1649C>G (p.Pro550Arg) | |
3 | g.119414070C>T | CA354049394 | ARHGAP31 | c.2141C>T (p.Pro714Leu) c.2048C>T (p.Pro683Leu) c.2081C>T (p.Pro694Leu) c.1649C>T (p.Pro550Leu) | |
3 | g.119414071T>A | CA435411590 | ARHGAP31 | c.2142T>A (p.Pro714=) c.2049T>A (p.Pro683=) c.2082T>A (p.Pro694=) c.1650T>A (p.Pro550=) | |
3 | g.119414071T>C | CA2553975 | ARHGAP31 | c.2142T>C (p.Pro714=) c.2049T>C (p.Pro683=) c.2082T>C (p.Pro694=) c.1650T>C (p.Pro550=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.119414071T>G | CA435411591 | ARHGAP31 | c.2142T>G (p.Pro714=) c.2049T>G (p.Pro683=) c.2082T>G (p.Pro694=) c.1650T>G (p.Pro550=) | |
3 | g.119414071T= | CA1396548536 | ARHGAP31 | c.2142T= (p.Pro714=) c.2049T= (p.Pro683=) c.2082T= (p.Pro694=) c.1650T= (p.Pro550=) | |
3 | g.119414072C>A | CA354049398 | ARHGAP31 | c.2143C>A (p.Leu715Met) c.2050C>A (p.Leu684Met) c.2083C>A (p.Leu695Met) c.1651C>A (p.Leu551Met) | |
3 | g.119414072C= | CA1396548537 | ARHGAP31 | c.2143C= (p.Leu715=) c.2050C= (p.Leu684=) c.2083C= (p.Leu695=) c.1651C= (p.Leu551=) | |
3 | g.119414072C>G | CA2553976 | ARHGAP31 | c.2143C>G (p.Leu715Val) c.2050C>G (p.Leu684Val) c.2083C>G (p.Leu695Val) c.1651C>G (p.Leu551Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119414072C>T | CA435411593 | ARHGAP31 | c.2143C>T (p.Leu715=) c.2050C>T (p.Leu684=) c.2083C>T (p.Leu695=) c.1651C>T (p.Leu551=) | |
3 | g.119414073T>A | CA354049404 | ARHGAP31 | c.2144T>A (p.Leu715Gln) c.2051T>A (p.Leu684Gln) c.2084T>A (p.Leu695Gln) c.1652T>A (p.Leu551Gln) | |
3 | g.119414073T>C | CA354049407 | ARHGAP31 | c.2144T>C (p.Leu715Pro) c.2051T>C (p.Leu684Pro) c.2084T>C (p.Leu695Pro) c.1652T>C (p.Leu551Pro) | |
3 | g.119414073T>G | CA354049410 | ARHGAP31 | c.2144T>G (p.Leu715Arg) c.2051T>G (p.Leu684Arg) c.2084T>G (p.Leu695Arg) c.1652T>G (p.Leu551Arg) | |
3 | g.119414074G>A | CA435411594 | ARHGAP31 | c.2145G>A (p.Leu715=) c.2052G>A (p.Leu684=) c.2085G>A (p.Leu695=) c.1653G>A (p.Leu551=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.119414074G>C | CA435411595 | ARHGAP31 | c.2145G>C (p.Leu715=) c.2052G>C (p.Leu684=) c.2085G>C (p.Leu695=) c.1653G>C (p.Leu551=) | |
3 | g.119414074G>T | CA435411596 | ARHGAP31 | c.2145G>T (p.Leu715=) c.2052G>T (p.Leu684=) c.2085G>T (p.Leu695=) c.1653G>T (p.Leu551=) | |
3 | g.119414075G>A | CA354049419 | ARHGAP31 | c.2146G>A (p.Glu716Lys) c.2053G>A (p.Glu685Lys) c.2086G>A (p.Glu696Lys) c.1654G>A (p.Glu552Lys) | dbSNP |
3 | g.119414075G>C | CA354049413 | ARHGAP31 | c.2146G>C (p.Glu716Gln) c.2053G>C (p.Glu685Gln) c.2086G>C (p.Glu696Gln) c.1654G>C (p.Glu552Gln) | |
3 | g.119414075G= | CA1396548538 | ARHGAP31 | c.2146G= (p.Glu716=) c.2053G= (p.Glu685=) c.2086G= (p.Glu696=) c.1654G= (p.Glu552=) | |
3 | g.119414075G>T | CA354049416 | ARHGAP31 | c.2146G>T (p.Glu716Ter) c.2053G>T (p.Glu685Ter) c.2086G>T (p.Glu696Ter) c.1654G>T (p.Glu552Ter) | |
3 | g.119414076A>C | CA354049423 | ARHGAP31 | c.2147A>C (p.Glu716Ala) c.2054A>C (p.Glu685Ala) c.2087A>C (p.Glu696Ala) c.1655A>C (p.Glu552Ala) | |
3 | g.119414076A>G | CA354049426 | ARHGAP31 | c.2147A>G (p.Glu716Gly) c.2054A>G (p.Glu685Gly) c.2087A>G (p.Glu696Gly) c.1655A>G (p.Glu552Gly) | |
3 | g.119414076A>T | CA354049428 | ARHGAP31 | c.2147A>T (p.Glu716Val) c.2054A>T (p.Glu685Val) c.2087A>T (p.Glu696Val) c.1655A>T (p.Glu552Val) | |
3 | g.119414077G>A | CA2553977 | ARHGAP31 | c.2148G>A (p.Glu716=) c.2055G>A (p.Glu685=) c.2088G>A (p.Glu696=) c.1656G>A (p.Glu552=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.119414077G>C | CA354049432 | ARHGAP31 | c.2148G>C (p.Glu716Asp) c.2055G>C (p.Glu685Asp) c.2088G>C (p.Glu696Asp) c.1656G>C (p.Glu552Asp) | |
3 | g.119414077G= | CA1396548539 | ARHGAP31 | c.2148G= (p.Glu716=) c.2055G= (p.Glu685=) c.2088G= (p.Glu696=) c.1656G= (p.Glu552=) | |
3 | g.119414077G>T | CA354049435 | ARHGAP31 | c.2148G>T (p.Glu716Asp) c.2055G>T (p.Glu685Asp) c.2088G>T (p.Glu696Asp) c.1656G>T (p.Glu552Asp) | |
3 | g.119414078G>A | CA354049437 | ARHGAP31 | c.2149G>A (p.Val717Met) c.2056G>A (p.Val686Met) c.2089G>A (p.Val697Met) c.1657G>A (p.Val553Met) | |
3 | g.119414078G>C | CA354049440 | ARHGAP31 | c.2149G>C (p.Val717Leu) c.2056G>C (p.Val686Leu) c.2089G>C (p.Val697Leu) c.1657G>C (p.Val553Leu) | |
3 | g.119414078G= | CA1396548540 | ARHGAP31 | c.2149G= (p.Val717=) c.2056G= (p.Val686=) c.2089G= (p.Val697=) c.1657G= (p.Val553=) | |
3 | g.119414078G>T | CA81697436 | ARHGAP31 | c.2149G>T (p.Val717Leu) c.2056G>T (p.Val686Leu) c.2089G>T (p.Val697Leu) c.1657G>T (p.Val553Leu) | dbSNP gnomAD v4 |
3 | g.119414079T>A | CA354049444 | ARHGAP31 | c.2150T>A (p.Val717Glu) c.2057T>A (p.Val686Glu) c.2090T>A (p.Val697Glu) c.1658T>A (p.Val553Glu) | |
3 | g.119414079T>C | CA354049447 | ARHGAP31 | c.2150T>C (p.Val717Ala) c.2057T>C (p.Val686Ala) c.2090T>C (p.Val697Ala) c.1658T>C (p.Val553Ala) | |
3 | g.119414079T>G | CA354049449 | ARHGAP31 | c.2150T>G (p.Val717Gly) c.2057T>G (p.Val686Gly) c.2090T>G (p.Val697Gly) c.1658T>G (p.Val553Gly) | dbSNP |
3 | g.119414079T= | CA1396548541 | ARHGAP31 | c.2150T= (p.Val717=) c.2057T= (p.Val686=) c.2090T= (p.Val697=) c.1658T= (p.Val553=) | |
3 | g.119414080G>A | CA435411597 | ARHGAP31 | c.2151G>A (p.Val717=) c.2058G>A (p.Val686=) c.2091G>A (p.Val697=) c.1659G>A (p.Val553=) | |
3 | g.119414080G>C | CA435411598 | ARHGAP31 | c.2151G>C (p.Val717=) c.2058G>C (p.Val686=) c.2091G>C (p.Val697=) c.1659G>C (p.Val553=) | |
3 | g.119414080G>T | CA435411599 | ARHGAP31 | c.2151G>T (p.Val717=) c.2058G>T (p.Val686=) c.2091G>T (p.Val697=) c.1659G>T (p.Val553=) | |
3 | g.119414081T>A | CA354049455 | ARHGAP31 | c.2152T>A (p.Trp718Arg) c.2059T>A (p.Trp687Arg) c.2092T>A (p.Trp698Arg) c.1660T>A (p.Trp554Arg) | |
3 | g.119414081T>C | CA2553978 | ARHGAP31 | c.2152T>C (p.Trp718Arg) c.2059T>C (p.Trp687Arg) c.2092T>C (p.Trp698Arg) c.1660T>C (p.Trp554Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.119414081T>G | CA2553979 | ARHGAP31 | c.2152T>G (p.Trp718Gly) c.2059T>G (p.Trp687Gly) c.2092T>G (p.Trp698Gly) c.1660T>G (p.Trp554Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119414081T= | CA1396548542 | ARHGAP31 | c.2152T= (p.Trp718=) c.2059T= (p.Trp687=) c.2092T= (p.Trp698=) c.1660T= (p.Trp554=) | |
3 | g.119414082G>A | CA354049462 | ARHGAP31 | c.2153G>A (p.Trp718Ter) c.2060G>A (p.Trp687Ter) c.2093G>A (p.Trp698Ter) c.1661G>A (p.Trp554Ter) | |
3 | g.119414082G>C | CA354049460 | ARHGAP31 | c.2153G>C (p.Trp718Ser) c.2060G>C (p.Trp687Ser) c.2093G>C (p.Trp698Ser) c.1661G>C (p.Trp554Ser) | |
3 | g.119414082G>T | CA354049465 | ARHGAP31 | c.2153G>T (p.Trp718Leu) c.2060G>T (p.Trp687Leu) c.2093G>T (p.Trp698Leu) c.1661G>T (p.Trp554Leu) | |
3 | g.119414083G>A | CA354049468 | ARHGAP31 | c.2154G>A (p.Trp718Ter) c.2061G>A (p.Trp687Ter) c.2094G>A (p.Trp698Ter) c.1662G>A (p.Trp554Ter) | |
3 | g.119414083G>C | CA354049474 | ARHGAP31 | c.2154G>C (p.Trp718Cys) c.2061G>C (p.Trp687Cys) c.2094G>C (p.Trp698Cys) c.1662G>C (p.Trp554Cys) | |
3 | g.119414083G>T | CA354049472 | ARHGAP31 | c.2154G>T (p.Trp718Cys) c.2061G>T (p.Trp687Cys) c.2094G>T (p.Trp698Cys) c.1662G>T (p.Trp554Cys) | |
3 | g.119414084A>C | CA354049477 | ARHGAP31 | c.2155A>C (p.Thr719Pro) c.2062A>C (p.Thr688Pro) c.2095A>C (p.Thr699Pro) c.1663A>C (p.Thr555Pro) | |
3 | g.119414084A>G | CA354049482 | ARHGAP31 | c.2155A>G (p.Thr719Ala) c.2062A>G (p.Thr688Ala) c.2095A>G (p.Thr699Ala) c.1663A>G (p.Thr555Ala) | |
3 | g.119414084A>T | CA354049479 | ARHGAP31 | c.2155A>T (p.Thr719Ser) c.2062A>T (p.Thr688Ser) c.2095A>T (p.Thr699Ser) c.1663A>T (p.Thr555Ser) | |
3 | g.119414085C>A | CA354049484 | ARHGAP31 | c.2156C>A (p.Thr719Asn) c.2063C>A (p.Thr688Asn) c.2096C>A (p.Thr699Asn) c.1664C>A (p.Thr555Asn) | |
3 | g.119414085C>G | CA354049486 | ARHGAP31 | c.2156C>G (p.Thr719Ser) c.2063C>G (p.Thr688Ser) c.2096C>G (p.Thr699Ser) c.1664C>G (p.Thr555Ser) | |
3 | g.119414085C>T | CA354049489 | ARHGAP31 | c.2156C>T (p.Thr719Ile) c.2063C>T (p.Thr688Ile) c.2096C>T (p.Thr699Ile) c.1664C>T (p.Thr555Ile) | |
3 | g.119414086T>A | CA435411600 | ARHGAP31 | c.2157T>A (p.Thr719=) c.2064T>A (p.Thr688=) c.2097T>A (p.Thr699=) c.1665T>A (p.Thr555=) | |
3 | g.119414086T>C | CA435411601 | ARHGAP31 | c.2157T>C (p.Thr719=) c.2064T>C (p.Thr688=) c.2097T>C (p.Thr699=) c.1665T>C (p.Thr555=) | |
3 | g.119414086T>G | CA435411602 | ARHGAP31 | c.2157T>G (p.Thr719=) c.2064T>G (p.Thr688=) c.2097T>G (p.Thr699=) c.1665T>G (p.Thr555=) | |
3 | g.119414087A>C | CA435411603 | ARHGAP31 | c.2158A>C (p.Arg720=) c.2065A>C (p.Arg689=) c.2098A>C (p.Arg700=) c.1666A>C (p.Arg556=) | |
3 | g.119414087A>G | CA354049491 | ARHGAP31 | c.2158A>G (p.Arg720Gly) c.2065A>G (p.Arg689Gly) c.2098A>G (p.Arg700Gly) c.1666A>G (p.Arg556Gly) | |
3 | g.119414087A>T | CA354049494 | ARHGAP31 | c.2158A>T (p.Arg720Trp) c.2065A>T (p.Arg689Trp) c.2098A>T (p.Arg700Trp) c.1666A>T (p.Arg556Trp) | |
3 | g.119414088G>A | CA354049497 | ARHGAP31 | c.2159G>A (p.Arg720Lys) c.2066G>A (p.Arg689Lys) c.2099G>A (p.Arg700Lys) c.1667G>A (p.Arg556Lys) | |
3 | g.119414088G>C | CA354049500 | ARHGAP31 | c.2159G>C (p.Arg720Thr) c.2066G>C (p.Arg689Thr) c.2099G>C (p.Arg700Thr) c.1667G>C (p.Arg556Thr) | gnomAD v4 |
3 | g.119414088G>T | CA354049503 | ARHGAP31 | c.2159G>T (p.Arg720Met) c.2066G>T (p.Arg689Met) c.2099G>T (p.Arg700Met) c.1667G>T (p.Arg556Met) | |
3 | g.119414089G>A | CA2553980 | ARHGAP31 | c.2160G>A (p.Arg720=) c.2067G>A (p.Arg689=) c.2100G>A (p.Arg700=) c.1668G>A (p.Arg556=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.119414089G>C | CA354049508 | ARHGAP31 | c.2160G>C (p.Arg720Ser) c.2067G>C (p.Arg689Ser) c.2100G>C (p.Arg700Ser) c.1668G>C (p.Arg556Ser) | gnomAD v4 |
3 | g.119414089G= | CA1396548543 | ARHGAP31 | c.2160G= (p.Arg720=) c.2067G= (p.Arg689=) c.2100G= (p.Arg700=) c.1668G= (p.Arg556=) | |
3 | g.119414089G>T | CA354049511 | ARHGAP31 | c.2160G>T (p.Arg720Ser) c.2067G>T (p.Arg689Ser) c.2100G>T (p.Arg700Ser) c.1668G>T (p.Arg556Ser) | |
3 | g.119414090G>A | CA354049519 | ARHGAP31 | c.2161G>A (p.Asp721Asn) c.2068G>A (p.Asp690Asn) c.2101G>A (p.Asp701Asn) c.1669G>A (p.Asp557Asn) | |
3 | g.119414090G>C | CA354049516 | ARHGAP31 | c.2161G>C (p.Asp721His) c.2068G>C (p.Asp690His) c.2101G>C (p.Asp701His) c.1669G>C (p.Asp557His) | |
3 | g.119414090G>T | CA354049513 | ARHGAP31 | c.2161G>T (p.Asp721Tyr) c.2068G>T (p.Asp690Tyr) c.2101G>T (p.Asp701Tyr) c.1669G>T (p.Asp557Tyr) | |
3 | g.119414091A>C | CA354049521 | ARHGAP31 | c.2162A>C (p.Asp721Ala) c.2069A>C (p.Asp690Ala) c.2102A>C (p.Asp701Ala) c.1670A>C (p.Asp557Ala) | |
3 | g.119414091A>G | CA354049523 | ARHGAP31 | c.2162A>G (p.Asp721Gly) c.2069A>G (p.Asp690Gly) c.2102A>G (p.Asp701Gly) c.1670A>G (p.Asp557Gly) | |
3 | g.119414091A>T | CA354049526 | ARHGAP31 | c.2162A>T (p.Asp721Val) c.2069A>T (p.Asp690Val) c.2102A>T (p.Asp701Val) c.1670A>T (p.Asp557Val) | |
3 | g.119414092T>A | CA354049529 | ARHGAP31 | c.2163T>A (p.Asp721Glu) c.2070T>A (p.Asp690Glu) c.2103T>A (p.Asp701Glu) c.1671T>A (p.Asp557Glu) | |
3 | g.119414092T>C | CA435411604 | ARHGAP31 | c.2163T>C (p.Asp721=) c.2070T>C (p.Asp690=) c.2103T>C (p.Asp701=) c.1671T>C (p.Asp557=) | dbSNP |
3 | g.119414092T>G | CA354049530 | ARHGAP31 | c.2163T>G (p.Asp721Glu) c.2070T>G (p.Asp690Glu) c.2103T>G (p.Asp701Glu) c.1671T>G (p.Asp557Glu) | gnomAD v4 |
3 | g.119414092T= | CA1396548544 | ARHGAP31 | c.2163T= (p.Asp721=) c.2070T= (p.Asp690=) c.2103T= (p.Asp701=) c.1671T= (p.Asp557=) | |
3 | g.119414093C>A | CA354049534 | ARHGAP31 | c.2164C>A (p.Pro722Thr) c.2071C>A (p.Pro691Thr) c.2104C>A (p.Pro702Thr) c.1672C>A (p.Pro558Thr) | |
3 | g.119414093C= | CA1396548545 | ARHGAP31 | c.2164C= (p.Pro722=) c.2071C= (p.Pro691=) c.2104C= (p.Pro702=) c.1672C= (p.Pro558=) | |
3 | g.119414093C>G | CA354049538 | ARHGAP31 | c.2164C>G (p.Pro722Ala) c.2071C>G (p.Pro691Ala) c.2104C>G (p.Pro702Ala) c.1672C>G (p.Pro558Ala) | |
3 | g.119414093C>T | CA354049539 | ARHGAP31 | c.2164C>T (p.Pro722Ser) c.2071C>T (p.Pro691Ser) c.2104C>T (p.Pro702Ser) c.1672C>T (p.Pro558Ser) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
3 | g.119414094C>A | CA354049541 | ARHGAP31 | c.2165C>A (p.Pro722Gln) c.2072C>A (p.Pro691Gln) c.2105C>A (p.Pro702Gln) c.1673C>A (p.Pro558Gln) | dbSNP |
3 | g.119414094C= | CA1396548546 | ARHGAP31 | c.2165C= (p.Pro722=) c.2072C= (p.Pro691=) c.2105C= (p.Pro702=) c.1673C= (p.Pro558=) | |
3 | g.119414094C>G | CA354049544 | ARHGAP31 | c.2165C>G (p.Pro722Arg) c.2072C>G (p.Pro691Arg) c.2105C>G (p.Pro702Arg) c.1673C>G (p.Pro558Arg) | |
3 | g.119414094C>T | CA2553981 | ARHGAP31 | c.2165C>T (p.Pro722Leu) c.2072C>T (p.Pro691Leu) c.2105C>T (p.Pro702Leu) c.1673C>T (p.Pro558Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119414095A>C | CA435411605 | ARHGAP31 | c.2166A>C (p.Pro722=) c.2073A>C (p.Pro691=) c.2106A>C (p.Pro702=) c.1674A>C (p.Pro558=) | |
3 | g.119414095A>G | CA435411606 | ARHGAP31 | c.2166A>G (p.Pro722=) c.2073A>G (p.Pro691=) c.2106A>G (p.Pro702=) c.1674A>G (p.Pro558=) | |
3 | g.119414095A>T | CA435411607 | ARHGAP31 | c.2166A>T (p.Pro722=) c.2073A>T (p.Pro691=) c.2106A>T (p.Pro702=) c.1674A>T (p.Pro558=) | |
3 | g.119414096G>A | CA354049557 | ARHGAP31 | c.2167G>A (p.Ala723Thr) c.2074G>A (p.Ala692Thr) c.2107G>A (p.Ala703Thr) c.1675G>A (p.Ala559Thr) | |
3 | g.119414096G>C | CA354049555 | ARHGAP31 | c.2167G>C (p.Ala723Pro) c.2074G>C (p.Ala692Pro) c.2107G>C (p.Ala703Pro) c.1675G>C (p.Ala559Pro) | |
3 | g.119414096G>T | CA354049550 | ARHGAP31 | c.2167G>T (p.Ala723Ser) c.2074G>T (p.Ala692Ser) c.2107G>T (p.Ala703Ser) c.1675G>T (p.Ala559Ser) | |
3 | g.119414097C>A | CA354049559 | ARHGAP31 | c.2168C>A (p.Ala723Asp) c.2075C>A (p.Ala692Asp) c.2108C>A (p.Ala703Asp) c.1676C>A (p.Ala559Asp) | |
3 | g.119414097C>G | CA354049562 | ARHGAP31 | c.2168C>G (p.Ala723Gly) c.2075C>G (p.Ala692Gly) c.2108C>G (p.Ala703Gly) c.1676C>G (p.Ala559Gly) | |
3 | g.119414097C>T | CA354049563 | ARHGAP31 | c.2168C>T (p.Ala723Val) c.2075C>T (p.Ala692Val) c.2108C>T (p.Ala703Val) c.1676C>T (p.Ala559Val) | |
3 | g.119414098C>A | CA435411608 | ARHGAP31 | c.2169C>A (p.Ala723=) c.2076C>A (p.Ala692=) c.2109C>A (p.Ala703=) c.1677C>A (p.Ala559=) | |
3 | g.119414098C>G | CA435411610 | ARHGAP31 | c.2169C>G (p.Ala723=) c.2076C>G (p.Ala692=) c.2109C>G (p.Ala703=) c.1677C>G (p.Ala559=) | |
3 | g.119414098C>T | CA435411609 | ARHGAP31 | c.2169C>T (p.Ala723=) c.2076C>T (p.Ala692=) c.2109C>T (p.Ala703=) c.1677C>T (p.Ala559=) | |
3 | g.119414099A>C | CA354049567 | ARHGAP31 | c.2170A>C (p.Asn724His) c.2077A>C (p.Asn693His) c.2110A>C (p.Asn704His) c.1678A>C (p.Asn560His) | |
3 | g.119414099A>G | CA354049569 | ARHGAP31 | c.2170A>G (p.Asn724Asp) c.2077A>G (p.Asn693Asp) c.2110A>G (p.Asn704Asp) c.1678A>G (p.Asn560Asp) | |
3 | g.119414099A>T | CA354049571 | ARHGAP31 | c.2170A>T (p.Asn724Tyr) c.2077A>T (p.Asn693Tyr) c.2110A>T (p.Asn704Tyr) c.1678A>T (p.Asn560Tyr) |