Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.119414072_119414073del | CA2839816717 | ARHGAP31 | c.2143_2144del (p.Leu715GlyfsTer5) c.2050_2051del (p.Leu684GlyfsTer5) c.2083_2084del (p.Leu695GlyfsTer5) c.1651_1652del (p.Leu551GlyfsTer5) | |
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.119414098dup | CA2840618632 | ARHGAP31 | c.2169dup (p.Asn724GlnfsTer19) c.2076dup (p.Asn693GlnfsTer19) c.2109dup (p.Asn704GlnfsTer19) c.1677dup (p.Asn560GlnfsTer19) | |
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) | |
3 | g.119414100A= | CA1396548547 | ARHGAP31 | c.2171A= (p.Asn724=) c.2078A= (p.Asn693=) c.2111A= (p.Asn704=) c.1679A= (p.Asn560=) | |
3 | g.119414100A>C | CA354049580 | ARHGAP31 | c.2171A>C (p.Asn724Thr) c.2078A>C (p.Asn693Thr) c.2111A>C (p.Asn704Thr) c.1679A>C (p.Asn560Thr) | |
3 | g.119414100A>G | CA354049574 | ARHGAP31 | c.2171A>G (p.Asn724Ser) c.2078A>G (p.Asn693Ser) c.2111A>G (p.Asn704Ser) c.1679A>G (p.Asn560Ser) | dbSNP gnomAD v4 |
3 | g.119414100A>T | CA354049576 | ARHGAP31 | c.2171A>T (p.Asn724Ile) c.2078A>T (p.Asn693Ile) c.2111A>T (p.Asn704Ile) c.1679A>T (p.Asn560Ile) | |
3 | g.119414101T>A | CA354049583 | ARHGAP31 | c.2172T>A (p.Asn724Lys) c.2079T>A (p.Asn693Lys) c.2112T>A (p.Asn704Lys) c.1680T>A (p.Asn560Lys) | |
3 | g.119414101T>C | CA435411611 | ARHGAP31 | c.2172T>C (p.Asn724=) c.2079T>C (p.Asn693=) c.2112T>C (p.Asn704=) c.1680T>C (p.Asn560=) | |
3 | g.119414101T>G | CA354049586 | ARHGAP31 | c.2172T>G (p.Asn724Lys) c.2079T>G (p.Asn693Lys) c.2112T>G (p.Asn704Lys) c.1680T>G (p.Asn560Lys) | |
3 | g.119414102C>A | CA354049589 | ARHGAP31 | c.2173C>A (p.Gln725Lys) c.2080C>A (p.Gln694Lys) c.2113C>A (p.Gln705Lys) c.1681C>A (p.Gln561Lys) | |
3 | g.119414102C>G | CA354049592 | ARHGAP31 | c.2173C>G (p.Gln725Glu) c.2080C>G (p.Gln694Glu) c.2113C>G (p.Gln705Glu) c.1681C>G (p.Gln561Glu) | gnomAD v4 |
3 | g.119414102C>T | CA354049595 | ARHGAP31 | c.2173C>T (p.Gln725Ter) c.2080C>T (p.Gln694Ter) c.2113C>T (p.Gln705Ter) c.1681C>T (p.Gln561Ter) | |
3 | g.119414103A>C | CA354049598 | ARHGAP31 | c.2174A>C (p.Gln725Pro) c.2081A>C (p.Gln694Pro) c.2114A>C (p.Gln705Pro) c.1682A>C (p.Gln561Pro) | |
3 | g.119414103A>G | CA354049602 | ARHGAP31 | c.2174A>G (p.Gln725Arg) c.2081A>G (p.Gln694Arg) c.2114A>G (p.Gln705Arg) c.1682A>G (p.Gln561Arg) | |
3 | g.119414103A>T | CA354049601 | ARHGAP31 | c.2174A>T (p.Gln725Leu) c.2081A>T (p.Gln694Leu) c.2114A>T (p.Gln705Leu) c.1682A>T (p.Gln561Leu) | |
3 | g.119414104G>A | CA435411612 | ARHGAP31 | c.2175G>A (p.Gln725=) c.2082G>A (p.Gln694=) c.2115G>A (p.Gln705=) c.1683G>A (p.Gln561=) | |
3 | g.119414104G>C | CA354049604 | ARHGAP31 | c.2175G>C (p.Gln725His) c.2082G>C (p.Gln694His) c.2115G>C (p.Gln705His) c.1683G>C (p.Gln561His) | dbSNP |
3 | g.119414104G= | CA1396548548 | ARHGAP31 | c.2175G= (p.Gln725=) c.2082G= (p.Gln694=) c.2115G= (p.Gln705=) c.1683G= (p.Gln561=) | |
3 | g.119414104G>T | CA354049607 | ARHGAP31 | c.2175G>T (p.Gln725His) c.2082G>T (p.Gln694His) c.2115G>T (p.Gln705His) c.1683G>T (p.Gln561His) | |
3 | g.119414105A>C | CA354049611 | ARHGAP31 | c.2176A>C (p.Ser726Arg) c.2083A>C (p.Ser695Arg) c.2116A>C (p.Ser706Arg) c.1684A>C (p.Ser562Arg) | |
3 | g.119414105A>G | CA354049613 | ARHGAP31 | c.2176A>G (p.Ser726Gly) c.2083A>G (p.Ser695Gly) c.2116A>G (p.Ser706Gly) c.1684A>G (p.Ser562Gly) | |
3 | g.119414105A>T | CA354049615 | ARHGAP31 | c.2176A>T (p.Ser726Cys) c.2083A>T (p.Ser695Cys) c.2116A>T (p.Ser706Cys) c.1684A>T (p.Ser562Cys) | |
3 | g.119414106G>A | CA354049619 | ARHGAP31 | c.2177G>A (p.Ser726Asn) c.2084G>A (p.Ser695Asn) c.2117G>A (p.Ser706Asn) c.1685G>A (p.Ser562Asn) | gnomAD v4 |
3 | g.119414106G>C | CA354049622 | ARHGAP31 | c.2177G>C (p.Ser726Thr) c.2084G>C (p.Ser695Thr) c.2117G>C (p.Ser706Thr) c.1685G>C (p.Ser562Thr) | |
3 | g.119414106G>T | CA354049625 | ARHGAP31 | c.2177G>T (p.Ser726Ile) c.2084G>T (p.Ser695Ile) c.2117G>T (p.Ser706Ile) c.1685G>T (p.Ser562Ile) | |
3 | g.119414107C>A | CA354049628 | ARHGAP31 | c.2178C>A (p.Ser726Arg) c.2085C>A (p.Ser695Arg) c.2118C>A (p.Ser706Arg) c.1686C>A (p.Ser562Arg) | |
3 | g.119414107C>G | CA354049630 | ARHGAP31 | c.2178C>G (p.Ser726Arg) c.2085C>G (p.Ser695Arg) c.2118C>G (p.Ser706Arg) c.1686C>G (p.Ser562Arg) | |
3 | g.119414107C>T | CA435411613 | ARHGAP31 | c.2178C>T (p.Ser726=) c.2085C>T (p.Ser695=) c.2118C>T (p.Ser706=) c.1686C>T (p.Ser562=) | |
3 | g.119414108A>C | CA354049638 | ARHGAP31 | c.2179A>C (p.Thr727Pro) c.2086A>C (p.Thr696Pro) c.2119A>C (p.Thr707Pro) c.1687A>C (p.Thr563Pro) | |
3 | g.119414108A>G | CA354049636 | ARHGAP31 | c.2179A>G (p.Thr727Ala) c.2086A>G (p.Thr696Ala) c.2119A>G (p.Thr707Ala) c.1687A>G (p.Thr563Ala) | |
3 | g.119414108A>T | CA354049634 | ARHGAP31 | c.2179A>T (p.Thr727Ser) c.2086A>T (p.Thr696Ser) c.2119A>T (p.Thr707Ser) c.1687A>T (p.Thr563Ser) | |
3 | g.119414109C>A | CA354049640 | ARHGAP31 | c.2180C>A (p.Thr727Lys) c.2087C>A (p.Thr696Lys) c.2120C>A (p.Thr707Lys) c.1688C>A (p.Thr563Lys) | |
3 | g.119414109C= | CA1396548549 | ARHGAP31 | c.2180C= (p.Thr727=) c.2087C= (p.Thr696=) c.2120C= (p.Thr707=) c.1688C= (p.Thr563=) | |
3 | g.119414109C>G | CA354049642 | ARHGAP31 | c.2180C>G (p.Thr727Arg) c.2087C>G (p.Thr696Arg) c.2120C>G (p.Thr707Arg) c.1688C>G (p.Thr563Arg) | |
3 | g.119414109C>T | CA2553982 | ARHGAP31 | c.2180C>T (p.Thr727Ile) c.2087C>T (p.Thr696Ile) c.2120C>T (p.Thr707Ile) c.1688C>T (p.Thr563Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119414110A>C | CA435411614 | ARHGAP31 | c.2181A>C (p.Thr727=) c.2088A>C (p.Thr696=) c.2121A>C (p.Thr707=) c.1689A>C (p.Thr563=) | |
3 | g.119414110A>G | CA435411615 | ARHGAP31 | c.2181A>G (p.Thr727=) c.2088A>G (p.Thr696=) c.2121A>G (p.Thr707=) c.1689A>G (p.Thr563=) | |
3 | g.119414110A>T | CA435411616 | ARHGAP31 | c.2181A>T (p.Thr727=) c.2088A>T (p.Thr696=) c.2121A>T (p.Thr707=) c.1689A>T (p.Thr563=) | gnomAD v4 |
3 | g.119414111C>A | CA354049644 | ARHGAP31 | c.2182C>A (p.Gln728Lys) c.2089C>A (p.Gln697Lys) c.2122C>A (p.Gln708Lys) c.1690C>A (p.Gln564Lys) | gnomAD v4 |
3 | g.119414111C= | CA1396548550 | ARHGAP31 | c.2182C= (p.Gln728=) c.2089C= (p.Gln697=) c.2122C= (p.Gln708=) c.1690C= (p.Gln564=) | |
3 | g.119414111C>G | CA354049646 | ARHGAP31 | c.2182C>G (p.Gln728Glu) c.2089C>G (p.Gln697Glu) c.2122C>G (p.Gln708Glu) c.1690C>G (p.Gln564Glu) | |
3 | g.119414111C>T | CA354049648 | ARHGAP31 | c.2182C>T (p.Gln728Ter) c.2089C>T (p.Gln697Ter) c.2122C>T (p.Gln708Ter) c.1690C>T (p.Gln564Ter) | ClinVar dbSNP |
3 | g.119414112A= | CA1396548551 | ARHGAP31 | c.2183A= (p.Gln728=) c.2090A= (p.Gln697=) c.2123A= (p.Gln708=) c.1691A= (p.Gln564=) | |
3 | g.119414112A>C | CA354049653 | ARHGAP31 | c.2183A>C (p.Gln728Pro) c.2090A>C (p.Gln697Pro) c.2123A>C (p.Gln708Pro) c.1691A>C (p.Gln564Pro) | |
3 | g.119414112A>G | CA354049650 | ARHGAP31 | c.2183A>G (p.Gln728Arg) c.2090A>G (p.Gln697Arg) c.2123A>G (p.Gln708Arg) c.1691A>G (p.Gln564Arg) | gnomAD v4 |
3 | g.119414112A>T | CA354049651 | ARHGAP31 | c.2183A>T (p.Gln728Leu) c.2090A>T (p.Gln697Leu) c.2123A>T (p.Gln708Leu) c.1691A>T (p.Gln564Leu) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.119414112_119414113del | CA2740452930 | ARHGAP31 | c.2183_2184del (p.Gln728ArgfsTer14) c.2090_2091del (p.Gln697ArgfsTer14) c.2123_2124del (p.Gln708ArgfsTer14) c.1691_1692del (p.Gln564ArgfsTer14) | |
3 | g.119414113G>A | CA435411617 | ARHGAP31 | c.2184G>A (p.Gln728=) c.2091G>A (p.Gln697=) c.2124G>A (p.Gln708=) c.1692G>A (p.Gln564=) | gnomAD v4 |
3 | g.119414113G>C | CA354049655 | ARHGAP31 | c.2184G>C (p.Gln728His) c.2091G>C (p.Gln697His) c.2124G>C (p.Gln708His) c.1692G>C (p.Gln564His) | |
3 | g.119414113G>T | CA354049657 | ARHGAP31 | c.2184G>T (p.Gln728His) c.2091G>T (p.Gln697His) c.2124G>T (p.Gln708His) c.1692G>T (p.Gln564His) | |
3 | g.119414114G>A | CA2553983 | ARHGAP31 | c.2185G>A (p.Gly729Arg) c.2092G>A (p.Gly698Arg) c.2125G>A (p.Gly709Arg) c.1693G>A (p.Gly565Arg) | dbSNP ExAC gnomAD v2 |
3 | g.119414114G>C | CA354049660 | ARHGAP31 | c.2185G>C (p.Gly729Arg) c.2092G>C (p.Gly698Arg) c.2125G>C (p.Gly709Arg) c.1693G>C (p.Gly565Arg) | dbSNP |
3 | g.119414114G= | CA1396548552 | ARHGAP31 | c.2185G= (p.Gly729=) c.2092G= (p.Gly698=) c.2125G= (p.Gly709=) c.1693G= (p.Gly565=) | |
3 | g.119414114G>T | CA354049662 | ARHGAP31 | c.2185G>T (p.Gly729Trp) c.2092G>T (p.Gly698Trp) c.2125G>T (p.Gly709Trp) c.1693G>T (p.Gly565Trp) | |
3 | g.119414115G>A | CA354049668 | ARHGAP31 | c.2186G>A (p.Gly729Glu) c.2093G>A (p.Gly698Glu) c.2126G>A (p.Gly709Glu) c.1694G>A (p.Gly565Glu) | dbSNP gnomAD v4 COSMIC |
3 | g.119414115G>C | CA354049664 | ARHGAP31 | c.2186G>C (p.Gly729Ala) c.2093G>C (p.Gly698Ala) c.2126G>C (p.Gly709Ala) c.1694G>C (p.Gly565Ala) | |
3 | g.119414115G= | CA1396548553 | ARHGAP31 | c.2186G= (p.Gly729=) c.2093G= (p.Gly698=) c.2126G= (p.Gly709=) c.1694G= (p.Gly565=) | |
3 | g.119414115G>T | CA354049666 | ARHGAP31 | c.2186G>T (p.Gly729Val) c.2093G>T (p.Gly698Val) c.2126G>T (p.Gly709Val) c.1694G>T (p.Gly565Val) | |
3 | g.119414116G>A | CA435411618 | ARHGAP31 | c.2187G>A (p.Gly729=) c.2094G>A (p.Gly698=) c.2127G>A (p.Gly709=) c.1695G>A (p.Gly565=) | dbSNP |
3 | g.119414116G>C | CA435411619 | ARHGAP31 | c.2187G>C (p.Gly729=) c.2094G>C (p.Gly698=) c.2127G>C (p.Gly709=) c.1695G>C (p.Gly565=) | |
3 | g.119414116G>T | CA435411620 | ARHGAP31 | c.2187G>T (p.Gly729=) c.2094G>T (p.Gly698=) c.2127G>T (p.Gly709=) c.1695G>T (p.Gly565=) | |
3 | g.119414117G>A | CA354049670 | ARHGAP31 | c.2188G>A (p.Ala730Thr) c.2095G>A (p.Ala699Thr) c.2128G>A (p.Ala710Thr) c.1696G>A (p.Ala566Thr) | |
3 | g.119414117G>C | CA354049672 | ARHGAP31 | c.2188G>C (p.Ala730Pro) c.2095G>C (p.Ala699Pro) c.2128G>C (p.Ala710Pro) c.1696G>C (p.Ala566Pro) | |
3 | g.119414117G>T | CA354049674 | ARHGAP31 | c.2188G>T (p.Ala730Ser) c.2095G>T (p.Ala699Ser) c.2128G>T (p.Ala710Ser) c.1696G>T (p.Ala566Ser) | gnomAD v4 |
3 | g.119414118C>A | CA354049676 | ARHGAP31 | c.2189C>A (p.Ala730Asp) c.2096C>A (p.Ala699Asp) c.2129C>A (p.Ala710Asp) c.1697C>A (p.Ala566Asp) | |
3 | g.119414118C= | CA1396548554 | ARHGAP31 | c.2189C= (p.Ala730=) c.2096C= (p.Ala699=) c.2129C= (p.Ala710=) c.1697C= (p.Ala566=) | |
3 | g.119414118C>G | CA81697459 | ARHGAP31 | c.2189C>G (p.Ala730Gly) c.2096C>G (p.Ala699Gly) c.2129C>G (p.Ala710Gly) c.1697C>G (p.Ala566Gly) | dbSNP |
3 | g.119414118C>T | CA354049678 | ARHGAP31 | c.2189C>T (p.Ala730Val) c.2096C>T (p.Ala699Val) c.2129C>T (p.Ala710Val) c.1697C>T (p.Ala566Val) | |
3 | g.119414119T>A | CA81697462 | ARHGAP31 | c.2190T>A (p.Ala730=) c.2097T>A (p.Ala699=) c.2130T>A (p.Ala710=) c.1698T>A (p.Ala566=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.119414119T>C | CA435411622 | ARHGAP31 | c.2190T>C (p.Ala730=) c.2097T>C (p.Ala699=) c.2130T>C (p.Ala710=) c.1698T>C (p.Ala566=) | |
3 | g.119414119T>G | CA435411621 | ARHGAP31 | c.2190T>G (p.Ala730=) c.2097T>G (p.Ala699=) c.2130T>G (p.Ala710=) c.1698T>G (p.Ala566=) | |
3 | g.119414119T= | CA1396548555 | ARHGAP31 | c.2190T= (p.Ala730=) c.2097T= (p.Ala699=) c.2130T= (p.Ala710=) c.1698T= (p.Ala566=) | |
3 | g.119414120T>A | CA354049682 | ARHGAP31 | c.2191T>A (p.Ser731Thr) c.2098T>A (p.Ser700Thr) c.2131T>A (p.Ser711Thr) c.1699T>A (p.Ser567Thr) | COSMIC |
3 | g.119414120T>C | CA354049683 | ARHGAP31 | c.2191T>C (p.Ser731Pro) c.2098T>C (p.Ser700Pro) c.2131T>C (p.Ser711Pro) c.1699T>C (p.Ser567Pro) | |
3 | g.119414120T>G | CA354049685 | ARHGAP31 | c.2191T>G (p.Ser731Ala) c.2098T>G (p.Ser700Ala) c.2131T>G (p.Ser711Ala) c.1699T>G (p.Ser567Ala) | |
3 | g.119414121C>A | CA354049688 | ARHGAP31 | c.2192C>A (p.Ser731Tyr) c.2099C>A (p.Ser700Tyr) c.2132C>A (p.Ser711Tyr) c.1700C>A (p.Ser567Tyr) | |
3 | g.119414121C= | CA1396548556 | ARHGAP31 | c.2192C= (p.Ser731=) c.2099C= (p.Ser700=) c.2132C= (p.Ser711=) c.1700C= (p.Ser567=) | |
3 | g.119414121C>G | CA354049689 | ARHGAP31 | c.2192C>G (p.Ser731Cys) c.2099C>G (p.Ser700Cys) c.2132C>G (p.Ser711Cys) c.1700C>G (p.Ser567Cys) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.119414121C>T | CA354049692 | ARHGAP31 | c.2192C>T (p.Ser731Phe) c.2099C>T (p.Ser700Phe) c.2132C>T (p.Ser711Phe) c.1700C>T (p.Ser567Phe) | |
3 | g.119414122C>A | CA435411625 | ARHGAP31 | c.2193C>A (p.Ser731=) c.2100C>A (p.Ser700=) c.2133C>A (p.Ser711=) c.1701C>A (p.Ser567=) | |
3 | g.119414122C>G | CA435411624 | ARHGAP31 | c.2193C>G (p.Ser731=) c.2100C>G (p.Ser700=) c.2133C>G (p.Ser711=) c.1701C>G (p.Ser567=) | |
3 | g.119414122C>T | CA435411623 | ARHGAP31 | c.2193C>T (p.Ser731=) c.2100C>T (p.Ser700=) c.2133C>T (p.Ser711=) c.1701C>T (p.Ser567=) | |
3 | g.119414123A= | CA1396548557 | ARHGAP31 | c.2194A= (p.Thr732=) c.2101A= (p.Thr701=) c.2134A= (p.Thr712=) c.1702A= (p.Thr568=) | |
3 | g.119414123A>C | CA354049695 | ARHGAP31 | c.2194A>C (p.Thr732Pro) c.2101A>C (p.Thr701Pro) c.2134A>C (p.Thr712Pro) c.1702A>C (p.Thr568Pro) | |
3 | g.119414123A>G | CA354049698 | ARHGAP31 | c.2194A>G (p.Thr732Ala) c.2101A>G (p.Thr701Ala) c.2134A>G (p.Thr712Ala) c.1702A>G (p.Thr568Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119414123A>T | CA354049697 | ARHGAP31 | c.2194A>T (p.Thr732Ser) c.2101A>T (p.Thr701Ser) c.2134A>T (p.Thr712Ser) c.1702A>T (p.Thr568Ser) | |
3 | g.119414124C>A | CA354049701 | ARHGAP31 | c.2195C>A (p.Thr732Lys) c.2102C>A (p.Thr701Lys) c.2135C>A (p.Thr712Lys) c.1703C>A (p.Thr568Lys) | |
3 | g.119414124C= | CA1396548558 | ARHGAP31 | c.2195C= (p.Thr732=) c.2102C= (p.Thr701=) c.2135C= (p.Thr712=) c.1703C= (p.Thr568=) | |
3 | g.119414124C>G | CA354049703 | ARHGAP31 | c.2195C>G (p.Thr732Arg) c.2102C>G (p.Thr701Arg) c.2135C>G (p.Thr712Arg) c.1703C>G (p.Thr568Arg) | |
3 | g.119414124C>T | CA354049704 | ARHGAP31 | c.2195C>T (p.Thr732Ile) c.2102C>T (p.Thr701Ile) c.2135C>T (p.Thr712Ile) c.1703C>T (p.Thr568Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.119414125A>C | CA435411626 | ARHGAP31 | c.2196A>C (p.Thr732=) c.2103A>C (p.Thr701=) c.2136A>C (p.Thr712=) c.1704A>C (p.Thr568=) | |
3 | g.119414125A>G | CA435411628 | ARHGAP31 | c.2196A>G (p.Thr732=) c.2103A>G (p.Thr701=) c.2136A>G (p.Thr712=) c.1704A>G (p.Thr568=) | gnomAD v4 |
3 | g.119414125A>T | CA435411627 | ARHGAP31 | c.2196A>T (p.Thr732=) c.2103A>T (p.Thr701=) c.2136A>T (p.Thr712=) c.1704A>T (p.Thr568=) | |
3 | g.119414126G>A | CA354049706 | ARHGAP31 | c.2197G>A (p.Ala733Thr) c.2104G>A (p.Ala702Thr) c.2137G>A (p.Ala713Thr) c.1705G>A (p.Ala569Thr) | |
3 | g.119414126G>C | CA354049708 | ARHGAP31 | c.2197G>C (p.Ala733Pro) c.2104G>C (p.Ala702Pro) c.2137G>C (p.Ala713Pro) c.1705G>C (p.Ala569Pro) | |
3 | g.119414126G>T | CA354049709 | ARHGAP31 | c.2197G>T (p.Ala733Ser) c.2104G>T (p.Ala702Ser) c.2137G>T (p.Ala713Ser) c.1705G>T (p.Ala569Ser) | |
3 | g.119414127C>A | CA354049711 | ARHGAP31 | c.2198C>A (p.Ala733Glu) c.2105C>A (p.Ala702Glu) c.2138C>A (p.Ala713Glu) c.1706C>A (p.Ala569Glu) | |
3 | g.119414127C= | CA1396548559 | ARHGAP31 | c.2198C= (p.Ala733=) c.2105C= (p.Ala702=) c.2138C= (p.Ala713=) c.1706C= (p.Ala569=) | |
3 | g.119414127C>G | CA354049713 | ARHGAP31 | c.2198C>G (p.Ala733Gly) c.2105C>G (p.Ala702Gly) c.2138C>G (p.Ala713Gly) c.1706C>G (p.Ala569Gly) | |
3 | g.119414127C>T | CA354049715 | ARHGAP31 | c.2198C>T (p.Ala733Val) c.2105C>T (p.Ala702Val) c.2138C>T (p.Ala713Val) c.1706C>T (p.Ala569Val) | dbSNP gnomAD v4 |
3 | g.119414128A= | CA1396548560 | ARHGAP31 | c.2199A= (p.Ala733=) c.2106A= (p.Ala702=) c.2139A= (p.Ala713=) c.1707A= (p.Ala569=) | |
3 | g.119414128A>C | CA435411629 | ARHGAP31 | c.2199A>C (p.Ala733=) c.2106A>C (p.Ala702=) c.2139A>C (p.Ala713=) c.1707A>C (p.Ala569=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.119414128A>G | CA435411630 | ARHGAP31 | c.2199A>G (p.Ala733=) c.2106A>G (p.Ala702=) c.2139A>G (p.Ala713=) c.1707A>G (p.Ala569=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.119414128A>T | CA2553984 | ARHGAP31 | c.2199A>T (p.Ala733=) c.2106A>T (p.Ala702=) c.2139A>T (p.Ala713=) c.1707A>T (p.Ala569=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119414129G>A | CA354049719 | ARHGAP31 | c.2200G>A (p.Ala734Thr) c.2107G>A (p.Ala703Thr) c.2140G>A (p.Ala714Thr) c.1708G>A (p.Ala570Thr) | |
3 | g.119414129G>C | CA354049720 | ARHGAP31 | c.2200G>C (p.Ala734Pro) c.2107G>C (p.Ala703Pro) c.2140G>C (p.Ala714Pro) c.1708G>C (p.Ala570Pro) | |
3 | g.119414129G>T | CA354049723 | ARHGAP31 | c.2200G>T (p.Ala734Ser) c.2107G>T (p.Ala703Ser) c.2140G>T (p.Ala714Ser) c.1708G>T (p.Ala570Ser) | |
3 | g.119414130C>A | CA2553985 | ARHGAP31 | c.2201C>A (p.Ala734Asp) c.2108C>A (p.Ala703Asp) c.2141C>A (p.Ala714Asp) c.1709C>A (p.Ala570Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.119414130C= | CA1396548561 | ARHGAP31 | c.2201C= (p.Ala734=) c.2108C= (p.Ala703=) c.2141C= (p.Ala714=) c.1709C= (p.Ala570=) | |
3 | g.119414130C>G | CA354049728 | ARHGAP31 | c.2201C>G (p.Ala734Gly) c.2108C>G (p.Ala703Gly) c.2141C>G (p.Ala714Gly) c.1709C>G (p.Ala570Gly) | |
3 | g.119414130C>T | CA354049726 | ARHGAP31 | c.2201C>T (p.Ala734Val) c.2108C>T (p.Ala703Val) c.2141C>T (p.Ala714Val) c.1709C>T (p.Ala570Val) | |
3 | g.119414131C>A | CA435411631 | ARHGAP31 | c.2202C>A (p.Ala734=) c.2109C>A (p.Ala703=) c.2142C>A (p.Ala714=) c.1710C>A (p.Ala570=) | |
3 | g.119414131C>G | CA435411632 | ARHGAP31 | c.2202C>G (p.Ala734=) c.2109C>G (p.Ala703=) c.2142C>G (p.Ala714=) c.1710C>G (p.Ala570=) | |
3 | g.119414131C>T | CA435411633 | ARHGAP31 | c.2202C>T (p.Ala734=) c.2109C>T (p.Ala703=) c.2142C>T (p.Ala714=) c.1710C>T (p.Ala570=) | |
3 | g.119414132A= | CA1396548562 | ARHGAP31 | c.2203A= (p.Ser735=) c.2110A= (p.Ser704=) c.2143A= (p.Ser715=) c.1711A= (p.Ser571=) | |
3 | g.119414132A>C | CA354049730 | ARHGAP31 | c.2203A>C (p.Ser735Arg) c.2110A>C (p.Ser704Arg) c.2143A>C (p.Ser715Arg) c.1711A>C (p.Ser571Arg) | gnomAD v4 |
3 | g.119414132A>G | CA2553986 | ARHGAP31 | c.2203A>G (p.Ser735Gly) c.2110A>G (p.Ser704Gly) c.2143A>G (p.Ser715Gly) c.1711A>G (p.Ser571Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119414132A>T | CA354049732 | ARHGAP31 | c.2203A>T (p.Ser735Cys) c.2110A>T (p.Ser704Cys) c.2143A>T (p.Ser715Cys) c.1711A>T (p.Ser571Cys) | |
3 | g.119414133G>A | CA354049735 | ARHGAP31 | c.2204G>A (p.Ser735Asn) c.2111G>A (p.Ser704Asn) c.2144G>A (p.Ser715Asn) c.1712G>A (p.Ser571Asn) | gnomAD v4 |
3 | g.119414133G>C | CA354049737 | ARHGAP31 | c.2204G>C (p.Ser735Thr) c.2111G>C (p.Ser704Thr) c.2144G>C (p.Ser715Thr) c.1712G>C (p.Ser571Thr) | |
3 | g.119414133G>T | CA354049738 | ARHGAP31 | c.2204G>T (p.Ser735Ile) c.2111G>T (p.Ser704Ile) c.2144G>T (p.Ser715Ile) c.1712G>T (p.Ser571Ile) | |
3 | g.119414134C>A | CA354049741 | ARHGAP31 | c.2205C>A (p.Ser735Arg) c.2112C>A (p.Ser704Arg) c.2145C>A (p.Ser715Arg) c.1713C>A (p.Ser571Arg) | |
3 | g.119414134C>G | CA354049742 | ARHGAP31 | c.2205C>G (p.Ser735Arg) c.2112C>G (p.Ser704Arg) c.2145C>G (p.Ser715Arg) c.1713C>G (p.Ser571Arg) | |
3 | g.119414134C>T | CA435411634 | ARHGAP31 | c.2205C>T (p.Ser735=) c.2112C>T (p.Ser704=) c.2145C>T (p.Ser715=) c.1713C>T (p.Ser571=) | |
3 | g.119414135A>C | CA435411635 | ARHGAP31 | c.2206A>C (p.Arg736=) c.2113A>C (p.Arg705=) c.2146A>C (p.Arg716=) c.1714A>C (p.Arg572=) | |
3 | g.119414135A>G | CA354049744 | ARHGAP31 | c.2206A>G (p.Arg736Gly) c.2113A>G (p.Arg705Gly) c.2146A>G (p.Arg716Gly) c.1714A>G (p.Arg572Gly) | |
3 | g.119414135A>T | CA354049745 | ARHGAP31 | c.2206A>T (p.Arg736Ter) c.2113A>T (p.Arg705Ter) c.2146A>T (p.Arg716Ter) c.1714A>T (p.Arg572Ter) | |
3 | g.119414140_119414141del | CA2667110269 | ARHGAP31 | c.2211_2212del (p.Lys738AlafsTer4) c.2118_2119del (p.Lys707AlafsTer4) c.2151_2152del (p.Lys718AlafsTer4) c.1719_1720del (p.Lys574AlafsTer4) | gnomAD v4 |
3 | g.119414136G>A | CA354049751 | ARHGAP31 | c.2207G>A (p.Arg736Lys) c.2114G>A (p.Arg705Lys) c.2147G>A (p.Arg716Lys) c.1715G>A (p.Arg572Lys) | gnomAD v4 |
3 | g.119414136G>C | CA354049749 | ARHGAP31 | c.2207G>C (p.Arg736Thr) c.2114G>C (p.Arg705Thr) c.2147G>C (p.Arg716Thr) c.1715G>C (p.Arg572Thr) | |
3 | g.119414136G>T | CA354049747 | ARHGAP31 | c.2207G>T (p.Arg736Ile) c.2114G>T (p.Arg705Ile) c.2147G>T (p.Arg716Ile) c.1715G>T (p.Arg572Ile) | |
3 | g.119414137A= | CA1396548563 | ARHGAP31 | c.2208A= (p.Arg736=) c.2115A= (p.Arg705=) c.2148A= (p.Arg716=) c.1716A= (p.Arg572=) | |
3 | g.119414137A>C | CA354049753 | ARHGAP31 | c.2208A>C (p.Arg736Ser) c.2115A>C (p.Arg705Ser) c.2148A>C (p.Arg716Ser) c.1716A>C (p.Arg572Ser) | |
3 | g.119414137A>G | CA81697470 | ARHGAP31 | c.2208A>G (p.Arg736=) c.2115A>G (p.Arg705=) c.2148A>G (p.Arg716=) c.1716A>G (p.Arg572=) | dbSNP |
3 | g.119414137A>T | CA354049755 | ARHGAP31 | c.2208A>T (p.Arg736Ser) c.2115A>T (p.Arg705Ser) c.2148A>T (p.Arg716Ser) c.1716A>T (p.Arg572Ser) | gnomAD v4 |
3 | g.119414138G>A | CA81697471 | ARHGAP31 | c.2209G>A (p.Glu737Lys) c.2116G>A (p.Glu706Lys) c.2149G>A (p.Glu717Lys) c.1717G>A (p.Glu573Lys) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.119414138G>C | CA354049759 | ARHGAP31 | c.2209G>C (p.Glu737Gln) c.2116G>C (p.Glu706Gln) c.2149G>C (p.Glu717Gln) c.1717G>C (p.Glu573Gln) | |
3 | g.119414138G= | CA1396548564 | ARHGAP31 | c.2209G= (p.Glu737=) c.2116G= (p.Glu706=) c.2149G= (p.Glu717=) c.1717G= (p.Glu573=) | |
3 | g.119414138G>T | CA354049761 | ARHGAP31 | c.2209G>T (p.Glu737Ter) c.2116G>T (p.Glu706Ter) c.2149G>T (p.Glu717Ter) c.1717G>T (p.Glu573Ter) | |
3 | g.119414139A= | CA1396548565 | ARHGAP31 | c.2210A= (p.Glu737=) c.2117A= (p.Glu706=) c.2150A= (p.Glu717=) c.1718A= (p.Glu573=) | |
3 | g.119414139A>C | CA354049763 | ARHGAP31 | c.2210A>C (p.Glu737Ala) c.2117A>C (p.Glu706Ala) c.2150A>C (p.Glu717Ala) c.1718A>C (p.Glu573Ala) | |
3 | g.119414139A>G | CA354049766 | ARHGAP31 | c.2210A>G (p.Glu737Gly) c.2117A>G (p.Glu706Gly) c.2150A>G (p.Glu717Gly) c.1718A>G (p.Glu573Gly) | dbSNP |
3 | g.119414139A>T | CA354049769 | ARHGAP31 | c.2210A>T (p.Glu737Val) c.2117A>T (p.Glu706Val) c.2150A>T (p.Glu717Val) c.1718A>T (p.Glu573Val) | |
3 | g.119414140G>A | CA435411636 | ARHGAP31 | c.2211G>A (p.Glu737=) c.2118G>A (p.Glu706=) c.2151G>A (p.Glu717=) c.1719G>A (p.Glu573=) | |
3 | g.119414140G>C | CA354049771 | ARHGAP31 | c.2211G>C (p.Glu737Asp) c.2118G>C (p.Glu706Asp) c.2151G>C (p.Glu717Asp) c.1719G>C (p.Glu573Asp) | |
3 | g.119414140G>T | CA354049773 | ARHGAP31 | c.2211G>T (p.Glu737Asp) c.2118G>T (p.Glu706Asp) c.2151G>T (p.Glu717Asp) c.1719G>T (p.Glu573Asp) | |
3 | g.119414141A>C | CA354049778 | ARHGAP31 | c.2212A>C (p.Lys738Gln) c.2119A>C (p.Lys707Gln) c.2152A>C (p.Lys718Gln) c.1720A>C (p.Lys574Gln) | |
3 | g.119414141A>G | CA354049781 | ARHGAP31 | c.2212A>G (p.Lys738Glu) c.2119A>G (p.Lys707Glu) c.2152A>G (p.Lys718Glu) c.1720A>G (p.Lys574Glu) | |
3 | g.119414141A>T | CA354049784 | ARHGAP31 | c.2212A>T (p.Lys738Ter) c.2119A>T (p.Lys707Ter) c.2152A>T (p.Lys718Ter) c.1720A>T (p.Lys574Ter) | |
3 | g.119414142A>C | CA354049787 | ARHGAP31 | c.2213A>C (p.Lys738Thr) c.2120A>C (p.Lys707Thr) c.2153A>C (p.Lys718Thr) c.1721A>C (p.Lys574Thr) | |
3 | g.119414142A>G | CA354049790 | ARHGAP31 | c.2213A>G (p.Lys738Arg) c.2120A>G (p.Lys707Arg) c.2153A>G (p.Lys718Arg) c.1721A>G (p.Lys574Arg) | |
3 | g.119414142A>T | CA354049792 | ARHGAP31 | c.2213A>T (p.Lys738Met) c.2120A>T (p.Lys707Met) c.2153A>T (p.Lys718Met) c.1721A>T (p.Lys574Met) | |
3 | g.119414143G>A | CA435411637 | ARHGAP31 | c.2214G>A (p.Lys738=) c.2121G>A (p.Lys707=) c.2154G>A (p.Lys718=) c.1722G>A (p.Lys574=) | |
3 | g.119414143G>C | CA354049795 | ARHGAP31 | c.2214G>C (p.Lys738Asn) c.2121G>C (p.Lys707Asn) c.2154G>C (p.Lys718Asn) c.1722G>C (p.Lys574Asn) | ClinVar |
3 | g.119414143G>T | CA354049798 | ARHGAP31 | c.2214G>T (p.Lys738Asn) c.2121G>T (p.Lys707Asn) c.2154G>T (p.Lys718Asn) c.1722G>T (p.Lys574Asn) | |
3 | g.119414144C>A | CA354049801 | ARHGAP31 | c.2215C>A (p.Pro739Thr) c.2122C>A (p.Pro708Thr) c.2155C>A (p.Pro719Thr) c.1723C>A (p.Pro575Thr) | gnomAD v4 |
3 | g.119414144C>G | CA354049804 | ARHGAP31 | c.2215C>G (p.Pro739Ala) c.2122C>G (p.Pro708Ala) c.2155C>G (p.Pro719Ala) c.1723C>G (p.Pro575Ala) | |
3 | g.119414144C>T | CA354049806 | ARHGAP31 | c.2215C>T (p.Pro739Ser) c.2122C>T (p.Pro708Ser) c.2155C>T (p.Pro719Ser) c.1723C>T (p.Pro575Ser) | |
3 | g.119414145del | CA2580068644 | ARHGAP31 | c.2216del (p.Pro739ArgfsTer19) c.2123del (p.Pro708ArgfsTer19) c.2156del (p.Pro719ArgfsTer19) c.1724del (p.Pro575ArgfsTer19) | ClinVar |
3 | g.119414145C>A | CA354049809 | ARHGAP31 | c.2216C>A (p.Pro739Gln) c.2123C>A (p.Pro708Gln) c.2156C>A (p.Pro719Gln) c.1724C>A (p.Pro575Gln) | gnomAD v4 |
3 | g.119414145C= | CA1396548566 | ARHGAP31 | c.2216C= (p.Pro739=) c.2123C= (p.Pro708=) c.2156C= (p.Pro719=) c.1724C= (p.Pro575=) | |
3 | g.119414145C>G | CA354049811 | ARHGAP31 | c.2216C>G (p.Pro739Arg) c.2123C>G (p.Pro708Arg) c.2156C>G (p.Pro719Arg) c.1724C>G (p.Pro575Arg) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.119414145C>T | CA2553987 | ARHGAP31 | c.2216C>T (p.Pro739Leu) c.2123C>T (p.Pro708Leu) c.2156C>T (p.Pro719Leu) c.1724C>T (p.Pro575Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.119414146G>A | CA435411640 | ARHGAP31 | c.2217G>A (p.Pro739=) c.2124G>A (p.Pro708=) c.2157G>A (p.Pro719=) c.1725G>A (p.Pro575=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
3 | g.119414146G>C | CA435411639 | ARHGAP31 | c.2217G>C (p.Pro739=) c.2124G>C (p.Pro708=) c.2157G>C (p.Pro719=) c.1725G>C (p.Pro575=) | dbSNP gnomAD v4 |
3 | g.119414146G= | CA1396548567 | ARHGAP31 | c.2217G= (p.Pro739=) c.2124G= (p.Pro708=) c.2157G= (p.Pro719=) c.1725G= (p.Pro575=) | |
3 | g.119414146G>T | CA435411638 | ARHGAP31 | c.2217G>T (p.Pro739=) c.2124G>T (p.Pro708=) c.2157G>T (p.Pro719=) c.1725G>T (p.Pro575=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.119414147G>A | CA354049817 | ARHGAP31 | c.2218G>A (p.Glu740Lys) c.2125G>A (p.Glu709Lys) c.2158G>A (p.Glu720Lys) c.1726G>A (p.Glu576Lys) | gnomAD v4 |
3 | g.119414147G>C | CA354049818 | ARHGAP31 | c.2218G>C (p.Glu740Gln) c.2125G>C (p.Glu709Gln) c.2158G>C (p.Glu720Gln) c.1726G>C (p.Glu576Gln) | gnomAD v4 |
3 | g.119414147G>T | CA354049820 | ARHGAP31 | c.2218G>T (p.Glu740Ter) c.2125G>T (p.Glu709Ter) c.2158G>T (p.Glu720Ter) c.1726G>T (p.Glu576Ter) | |
3 | g.119414148A>C | CA354049824 | ARHGAP31 | c.2219A>C (p.Glu740Ala) c.2126A>C (p.Glu709Ala) c.2159A>C (p.Glu720Ala) c.1727A>C (p.Glu576Ala) | |
3 | g.119414148A>G | CA354049826 | ARHGAP31 | c.2219A>G (p.Glu740Gly) c.2126A>G (p.Glu709Gly) c.2159A>G (p.Glu720Gly) c.1727A>G (p.Glu576Gly) | |
3 | g.119414148A>T | CA354049829 | ARHGAP31 | c.2219A>T (p.Glu740Val) c.2126A>T (p.Glu709Val) c.2159A>T (p.Glu720Val) c.1727A>T (p.Glu576Val) | |
3 | g.119414149A= | CA1396548568 | ARHGAP31 | c.2220A= (p.Glu740=) c.2127A= (p.Glu709=) c.2160A= (p.Glu720=) c.1728A= (p.Glu576=) | |
3 | g.119414149A>C | CA354049834 | ARHGAP31 | c.2220A>C (p.Glu740Asp) c.2127A>C (p.Glu709Asp) c.2160A>C (p.Glu720Asp) c.1728A>C (p.Glu576Asp) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.119414149A>G | CA435411641 | ARHGAP31 | c.2220A>G (p.Glu740=) c.2127A>G (p.Glu709=) c.2160A>G (p.Glu720=) c.1728A>G (p.Glu576=) | dbSNP |
3 | g.119414149A>T | CA354049832 | ARHGAP31 | c.2220A>T (p.Glu740Asp) c.2127A>T (p.Glu709Asp) c.2160A>T (p.Glu720Asp) c.1728A>T (p.Glu576Asp) | |
3 | g.119414150C>A | CA354049839 | ARHGAP31 | c.2221C>A (p.Pro741Thr) c.2128C>A (p.Pro710Thr) c.2161C>A (p.Pro721Thr) c.1729C>A (p.Pro577Thr) | dbSNP gnomAD v4 |
3 | g.119414150C= | CA1396548569 | ARHGAP31 | c.2221C= (p.Pro741=) c.2128C= (p.Pro710=) c.2161C= (p.Pro721=) c.1729C= (p.Pro577=) | |
3 | g.119414150C>G | CA354049841 | ARHGAP31 | c.2221C>G (p.Pro741Ala) c.2128C>G (p.Pro710Ala) c.2161C>G (p.Pro721Ala) c.1729C>G (p.Pro577Ala) | gnomAD v4 |
3 | g.119414150C>T | CA354049843 | ARHGAP31 | c.2221C>T (p.Pro741Ser) c.2128C>T (p.Pro710Ser) c.2161C>T (p.Pro721Ser) c.1729C>T (p.Pro577Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119414151C>A | CA354049847 | ARHGAP31 | c.2222C>A (p.Pro741His) c.2129C>A (p.Pro710His) c.2162C>A (p.Pro721His) c.1730C>A (p.Pro577His) | |
3 | g.119414151C= | CA1396548570 | ARHGAP31 | c.2222C= (p.Pro741=) c.2129C= (p.Pro710=) c.2162C= (p.Pro721=) c.1730C= (p.Pro577=) | |
3 | g.119414151C>G | CA354049849 | ARHGAP31 | c.2222C>G (p.Pro741Arg) c.2129C>G (p.Pro710Arg) c.2162C>G (p.Pro721Arg) c.1730C>G (p.Pro577Arg) | |
3 | g.119414151C>T | CA2553988 | ARHGAP31 | c.2222C>T (p.Pro741Leu) c.2129C>T (p.Pro710Leu) c.2162C>T (p.Pro721Leu) c.1730C>T (p.Pro577Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.119414152T>A | CA435411642 | ARHGAP31 | c.2223T>A (p.Pro741=) c.2130T>A (p.Pro710=) c.2163T>A (p.Pro721=) c.1731T>A (p.Pro577=) | |
3 | g.119414152T>C | CA435411644 | ARHGAP31 | c.2223T>C (p.Pro741=) c.2130T>C (p.Pro710=) c.2163T>C (p.Pro721=) c.1731T>C (p.Pro577=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.119414152T>G | CA435411643 | ARHGAP31 | c.2223T>G (p.Pro741=) c.2130T>G (p.Pro710=) c.2163T>G (p.Pro721=) c.1731T>G (p.Pro577=) | |
3 | g.119414152T= | CA1396548571 | ARHGAP31 | c.2223T= (p.Pro741=) c.2130T= (p.Pro710=) c.2163T= (p.Pro721=) c.1731T= (p.Pro577=) | |
3 | g.119414153G>A | CA354049862 | ARHGAP31 | c.2224G>A (p.Glu742Lys) c.2131G>A (p.Glu711Lys) c.2164G>A (p.Glu722Lys) c.1732G>A (p.Glu578Lys) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.119414153G>C | CA354049859 | ARHGAP31 | c.2224G>C (p.Glu742Gln) c.2131G>C (p.Glu711Gln) c.2164G>C (p.Glu722Gln) c.1732G>C (p.Glu578Gln) | gnomAD v4 COSMIC |
3 | g.119414153G= | CA1396548572 | ARHGAP31 | c.2224G= (p.Glu742=) c.2131G= (p.Glu711=) c.2164G= (p.Glu722=) c.1732G= (p.Glu578=) | |
3 | g.119414153G>T | CA354049861 | ARHGAP31 | c.2224G>T (p.Glu742Ter) c.2131G>T (p.Glu711Ter) c.2164G>T (p.Glu722Ter) c.1732G>T (p.Glu578Ter) | |
3 | g.119414154A= | CA1396548573 | ARHGAP31 | c.2225A= (p.Glu742=) c.2132A= (p.Glu711=) c.2165A= (p.Glu722=) c.1733A= (p.Glu578=) | |
3 | g.119414154A>C | CA354049865 | ARHGAP31 | c.2225A>C (p.Glu742Ala) c.2132A>C (p.Glu711Ala) c.2165A>C (p.Glu722Ala) c.1733A>C (p.Glu578Ala) | |
3 | g.119414154A>G | CA81697476 | ARHGAP31 | c.2225A>G (p.Glu742Gly) c.2132A>G (p.Glu711Gly) c.2165A>G (p.Glu722Gly) c.1733A>G (p.Glu578Gly) | dbSNP |
3 | g.119414154A>T | CA354049870 | ARHGAP31 | c.2225A>T (p.Glu742Val) c.2132A>T (p.Glu711Val) c.2165A>T (p.Glu722Val) c.1733A>T (p.Glu578Val) | |
3 | g.119414155G>A | CA435411645 | ARHGAP31 | c.2226G>A (p.Glu742=) c.2133G>A (p.Glu711=) c.2166G>A (p.Glu722=) c.1734G>A (p.Glu578=) | dbSNP gnomAD v4 |
3 | g.119414155G>C | CA354049873 | ARHGAP31 | c.2226G>C (p.Glu742Asp) c.2133G>C (p.Glu711Asp) c.2166G>C (p.Glu722Asp) c.1734G>C (p.Glu578Asp) | |
3 | g.119414155G>T | CA354049875 | ARHGAP31 | c.2226G>T (p.Glu742Asp) c.2133G>T (p.Glu711Asp) c.2166G>T (p.Glu722Asp) c.1734G>T (p.Glu578Asp) | |
3 | g.119414156C>A | CA354049882 | ARHGAP31 | c.2227C>A (p.Gln743Lys) c.2134C>A (p.Gln712Lys) c.2167C>A (p.Gln723Lys) c.1735C>A (p.Gln579Lys) | |
3 | g.119414156C>G | CA354049877 | ARHGAP31 | c.2227C>G (p.Gln743Glu) c.2134C>G (p.Gln712Glu) c.2167C>G (p.Gln723Glu) c.1735C>G (p.Gln579Glu) | |
3 | g.119414156C>T | CA354049880 | ARHGAP31 | c.2227C>T (p.Gln743Ter) c.2134C>T (p.Gln712Ter) c.2167C>T (p.Gln723Ter) c.1735C>T (p.Gln579Ter) | |
3 | g.119414157A= | CA1396548574 | ARHGAP31 | c.2228A= (p.Gln743=) c.2135A= (p.Gln712=) c.2168A= (p.Gln723=) c.1736A= (p.Gln579=) | |
3 | g.119414157A>C | CA354049885 | ARHGAP31 | c.2228A>C (p.Gln743Pro) c.2135A>C (p.Gln712Pro) c.2168A>C (p.Gln723Pro) c.1736A>C (p.Gln579Pro) | |
3 | g.119414157A>G | CA2553989 | ARHGAP31 | c.2228A>G (p.Gln743Arg) c.2135A>G (p.Gln712Arg) c.2168A>G (p.Gln723Arg) c.1736A>G (p.Gln579Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.119414157A>T | CA354049887 | ARHGAP31 | c.2228A>T (p.Gln743Leu) c.2135A>T (p.Gln712Leu) c.2168A>T (p.Gln723Leu) c.1736A>T (p.Gln579Leu) | |
3 | g.119414158G>A | CA435411646 | ARHGAP31 | c.2229G>A (p.Gln743=) c.2136G>A (p.Gln712=) c.2169G>A (p.Gln723=) c.1737G>A (p.Gln579=) | |
3 | g.119414158G>C | CA354049890 | ARHGAP31 | c.2229G>C (p.Gln743His) c.2136G>C (p.Gln712His) c.2169G>C (p.Gln723His) c.1737G>C (p.Gln579His) | |
3 | g.119414158G>T | CA354049893 | ARHGAP31 | c.2229G>T (p.Gln743His) c.2136G>T (p.Gln712His) c.2169G>T (p.Gln723His) c.1737G>T (p.Gln579His) | |
3 | g.119414160dup | CA2840618633 | ARHGAP31 | c.2231dup (p.Leu745ProfsTer17) c.2138dup (p.Leu714ProfsTer17) c.2171dup (p.Leu725ProfsTer17) c.1739dup (p.Leu581ProfsTer17) | |
3 | g.119414160del | CA2667110270 | ARHGAP31 | c.2231del (p.Gly744AlafsTer14) c.2138del (p.Gly713AlafsTer14) c.2171del (p.Gly724AlafsTer14) c.1739del (p.Gly580AlafsTer14) | gnomAD v4 |
3 | g.119414159G>A | CA354049896 | ARHGAP31 | c.2230G>A (p.Gly744Ser) c.2137G>A (p.Gly713Ser) c.2170G>A (p.Gly724Ser) c.1738G>A (p.Gly580Ser) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.119414159G>C | CA354049899 | ARHGAP31 | c.2230G>C (p.Gly744Arg) c.2137G>C (p.Gly713Arg) c.2170G>C (p.Gly724Arg) c.1738G>C (p.Gly580Arg) | dbSNP |
3 | g.119414159G= | CA1396548575 | ARHGAP31 | c.2230G= (p.Gly744=) c.2137G= (p.Gly713=) c.2170G= (p.Gly724=) c.1738G= (p.Gly580=) | |
3 | g.119414159G>T | CA354049901 | ARHGAP31 | c.2230G>T (p.Gly744Cys) c.2137G>T (p.Gly713Cys) c.2170G>T (p.Gly724Cys) c.1738G>T (p.Gly580Cys) | |
3 | g.119414160G>A | CA81697477 | ARHGAP31 | c.2231G>A (p.Gly744Asp) c.2138G>A (p.Gly713Asp) c.2171G>A (p.Gly724Asp) c.1739G>A (p.Gly580Asp) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.119414160G>C | CA354049907 | ARHGAP31 | c.2231G>C (p.Gly744Ala) c.2138G>C (p.Gly713Ala) c.2171G>C (p.Gly724Ala) c.1739G>C (p.Gly580Ala) | |
3 | g.119414160G= | CA1396548576 | ARHGAP31 | c.2231G= (p.Gly744=) c.2138G= (p.Gly713=) c.2171G= (p.Gly724=) c.1739G= (p.Gly580=) | |
3 | g.119414160G>T | CA354049909 | ARHGAP31 | c.2231G>T (p.Gly744Val) c.2138G>T (p.Gly713Val) c.2171G>T (p.Gly724Val) c.1739G>T (p.Gly580Val) | |
3 | g.119414161C>A | CA435411647 | ARHGAP31 | c.2232C>A (p.Gly744=) c.2139C>A (p.Gly713=) c.2172C>A (p.Gly724=) c.1740C>A (p.Gly580=) | |
3 | g.119414161C>G | CA435411648 | ARHGAP31 | c.2232C>G (p.Gly744=) c.2139C>G (p.Gly713=) c.2172C>G (p.Gly724=) c.1740C>G (p.Gly580=) | |
3 | g.119414161C>T | CA435411649 | ARHGAP31 | c.2232C>T (p.Gly744=) c.2139C>T (p.Gly713=) c.2172C>T (p.Gly724=) c.1740C>T (p.Gly580=) | |
3 | g.119414162C>A | CA354049913 | ARHGAP31 | c.2233C>A (p.Leu745Met) c.2140C>A (p.Leu714Met) c.2173C>A (p.Leu725Met) c.1741C>A (p.Leu581Met) | |
3 | g.119414162C>G | CA354049914 | ARHGAP31 | c.2233C>G (p.Leu745Val) c.2140C>G (p.Leu714Val) c.2173C>G (p.Leu725Val) c.1741C>G (p.Leu581Val) | |
3 | g.119414162C>T | CA435411650 | ARHGAP31 | c.2233C>T (p.Leu745=) c.2140C>T (p.Leu714=) c.2173C>T (p.Leu725=) c.1741C>T (p.Leu581=) | |
3 | g.119414163T>A | CA354049915 | ARHGAP31 | c.2234T>A (p.Leu745Gln) c.2141T>A (p.Leu714Gln) c.2174T>A (p.Leu725Gln) c.1742T>A (p.Leu581Gln) | |
3 | g.119414163T>C | CA354049919 | ARHGAP31 | c.2234T>C (p.Leu745Pro) c.2141T>C (p.Leu714Pro) c.2174T>C (p.Leu725Pro) c.1742T>C (p.Leu581Pro) | |
3 | g.119414163T>G | CA354049918 | ARHGAP31 | c.2234T>G (p.Leu745Arg) c.2141T>G (p.Leu714Arg) c.2174T>G (p.Leu725Arg) c.1742T>G (p.Leu581Arg) | |
3 | g.119414164G>A | CA435411651 | ARHGAP31 | c.2235G>A (p.Leu745=) c.2142G>A (p.Leu714=) c.2175G>A (p.Leu725=) c.1743G>A (p.Leu581=) | |
3 | g.119414164G>C | CA81697478 | ARHGAP31 | c.2235G>C (p.Leu745=) c.2142G>C (p.Leu714=) c.2175G>C (p.Leu725=) c.1743G>C (p.Leu581=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.119414164G= | CA1396548577 | ARHGAP31 | c.2235G= (p.Leu745=) c.2142G= (p.Leu714=) c.2175G= (p.Leu725=) c.1743G= (p.Leu581=) | |
3 | g.119414164G>T | CA435411652 | ARHGAP31 | c.2235G>T (p.Leu745=) c.2142G>T (p.Leu714=) c.2175G>T (p.Leu725=) c.1743G>T (p.Leu581=) | |
3 | g.119414165C>A | CA354049930 | ARHGAP31 | c.2236C>A (p.His746Asn) c.2143C>A (p.His715Asn) c.2176C>A (p.His726Asn) c.1744C>A (p.His582Asn) | |
3 | g.119414165C>G | CA354049925 | ARHGAP31 | c.2236C>G (p.His746Asp) c.2143C>G (p.His715Asp) c.2176C>G (p.His726Asp) c.1744C>G (p.His582Asp) | |
3 | g.119414165C>T | CA354049928 | ARHGAP31 | c.2236C>T (p.His746Tyr) c.2143C>T (p.His715Tyr) c.2176C>T (p.His726Tyr) c.1744C>T (p.His582Tyr) | |
3 | g.119414166A>C | CA354049932 | ARHGAP31 | c.2237A>C (p.His746Pro) c.2144A>C (p.His715Pro) c.2177A>C (p.His726Pro) c.1745A>C (p.His582Pro) | |
3 | g.119414166A>G | CA354049935 | ARHGAP31 | c.2237A>G (p.His746Arg) c.2144A>G (p.His715Arg) c.2177A>G (p.His726Arg) c.1745A>G (p.His582Arg) | gnomAD v4 |
3 | g.119414166A>T | CA354049937 | ARHGAP31 | c.2237A>T (p.His746Leu) c.2144A>T (p.His715Leu) c.2177A>T (p.His726Leu) c.1745A>T (p.His582Leu) | |
3 | g.119414167C>A | CA354049940 | ARHGAP31 | c.2238C>A (p.His746Gln) c.2145C>A (p.His715Gln) c.2178C>A (p.His726Gln) c.1746C>A (p.His582Gln) | ClinVar |
3 | g.119414167C= | CA1396548578 | ARHGAP31 | c.2238C= (p.His746=) c.2145C= (p.His715=) c.2178C= (p.His726=) c.1746C= (p.His582=) | |
3 | g.119414167C>G | CA354049948 | ARHGAP31 | c.2238C>G (p.His746Gln) c.2145C>G (p.His715Gln) c.2178C>G (p.His726Gln) c.1746C>G (p.His582Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119414167C>T | CA435411653 | ARHGAP31 | c.2238C>T (p.His746=) c.2145C>T (p.His715=) c.2178C>T (p.His726=) c.1746C>T (p.His582=) | gnomAD v4 |
3 | g.119414169dup | CA2838562506 | ARHGAP31 | c.2240dup (p.Asp748ArgfsTer14) c.2147dup (p.Asp717ArgfsTer14) c.2180dup (p.Asp728ArgfsTer14) c.1748dup (p.Asp584ArgfsTer14) | |
3 | g.119414169del | CA2524516268 | ARHGAP31 | c.2240del (p.Pro747GlnfsTer11) c.2147del (p.Pro716GlnfsTer11) c.2180del (p.Pro727GlnfsTer11) c.1748del (p.Pro583GlnfsTer11) | |
3 | g.119414168C>A | CA354049951 | ARHGAP31 | c.2239C>A (p.Pro747Thr) c.2146C>A (p.Pro716Thr) c.2179C>A (p.Pro727Thr) c.1747C>A (p.Pro583Thr) | |
3 | g.119414168C= | CA1396548579 | ARHGAP31 | c.2239C= (p.Pro747=) c.2146C= (p.Pro716=) c.2179C= (p.Pro727=) c.1747C= (p.Pro583=) | |
3 | g.119414168C>G | CA354049953 | ARHGAP31 | c.2239C>G (p.Pro747Ala) c.2146C>G (p.Pro716Ala) c.2179C>G (p.Pro727Ala) c.1747C>G (p.Pro583Ala) | |
3 | g.119414168C>T | CA354049956 | ARHGAP31 | c.2239C>T (p.Pro747Ser) c.2146C>T (p.Pro716Ser) c.2179C>T (p.Pro727Ser) c.1747C>T (p.Pro583Ser) | dbSNP |
3 | g.119414169C>A | CA354049962 | ARHGAP31 | c.2240C>A (p.Pro747Gln) c.2147C>A (p.Pro716Gln) c.2180C>A (p.Pro727Gln) c.1748C>A (p.Pro583Gln) | |
3 | g.119414169C>G | CA354049965 | ARHGAP31 | c.2240C>G (p.Pro747Arg) c.2147C>G (p.Pro716Arg) c.2180C>G (p.Pro727Arg) c.1748C>G (p.Pro583Arg) | |
3 | g.119414169C>T | CA354049970 | ARHGAP31 | c.2240C>T (p.Pro747Leu) c.2147C>T (p.Pro716Leu) c.2180C>T (p.Pro727Leu) c.1748C>T (p.Pro583Leu) | |
3 | g.119414170A= | CA1396548580 | ARHGAP31 | c.2241A= (p.Pro747=) c.2148A= (p.Pro716=) c.2181A= (p.Pro727=) c.1749A= (p.Pro583=) | |
3 | g.119414170A>C | CA2553990 | ARHGAP31 | c.2241A>C (p.Pro747=) c.2148A>C (p.Pro716=) c.2181A>C (p.Pro727=) c.1749A>C (p.Pro583=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119414170A>G | CA435411654 | ARHGAP31 | c.2241A>G (p.Pro747=) c.2148A>G (p.Pro716=) c.2181A>G (p.Pro727=) c.1749A>G (p.Pro583=) | |
3 | g.119414170A>T | CA435411655 | ARHGAP31 | c.2241A>T (p.Pro747=) c.2148A>T (p.Pro716=) c.2181A>T (p.Pro727=) c.1749A>T (p.Pro583=) | |
3 | g.119414171G>A | CA354049975 | ARHGAP31 | c.2242G>A (p.Asp748Asn) c.2149G>A (p.Asp717Asn) c.2182G>A (p.Asp728Asn) c.1750G>A (p.Asp584Asn) | |
3 | g.119414171G>C | CA354049977 | ARHGAP31 | c.2242G>C (p.Asp748His) c.2149G>C (p.Asp717His) c.2182G>C (p.Asp728His) c.1750G>C (p.Asp584His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119414171G= | CA1396548581 | ARHGAP31 | c.2242G= (p.Asp748=) c.2149G= (p.Asp717=) c.2182G= (p.Asp728=) c.1750G= (p.Asp584=) | |
3 | g.119414171G>T | CA354049981 | ARHGAP31 | c.2242G>T (p.Asp748Tyr) c.2149G>T (p.Asp717Tyr) c.2182G>T (p.Asp728Tyr) c.1750G>T (p.Asp584Tyr) | |
3 | g.119414172A= | CA1396548582 | ARHGAP31 | c.2243A= (p.Asp748=) c.2150A= (p.Asp717=) c.2183A= (p.Asp728=) c.1751A= (p.Asp584=) | |
3 | g.119414172A>C | CA354049994 | ARHGAP31 | c.2243A>C (p.Asp748Ala) c.2150A>C (p.Asp717Ala) c.2183A>C (p.Asp728Ala) c.1751A>C (p.Asp584Ala) | |
3 | g.119414172A>G | CA354049997 | ARHGAP31 | c.2243A>G (p.Asp748Gly) c.2150A>G (p.Asp717Gly) c.2183A>G (p.Asp728Gly) c.1751A>G (p.Asp584Gly) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.119414172A>T | CA354049999 | ARHGAP31 | c.2243A>T (p.Asp748Val) c.2150A>T (p.Asp717Val) c.2183A>T (p.Asp728Val) c.1751A>T (p.Asp584Val) | |
3 | g.119414173C>A | CA354050011 | ARHGAP31 | c.2244C>A (p.Asp748Glu) c.2151C>A (p.Asp717Glu) c.2184C>A (p.Asp728Glu) c.1752C>A (p.Asp584Glu) | |
3 | g.119414173C= | CA1396548583 | ARHGAP31 | c.2244C= (p.Asp748=) c.2151C= (p.Asp717=) c.2184C= (p.Asp728=) c.1752C= (p.Asp584=) | |
3 | g.119414173C>G | CA354050018 | ARHGAP31 | c.2244C>G (p.Asp748Glu) c.2151C>G (p.Asp717Glu) c.2184C>G (p.Asp728Glu) c.1752C>G (p.Asp584Glu) | dbSNP |
3 | g.119414173C>T | CA2553991 | ARHGAP31 | c.2244C>T (p.Asp748=) c.2151C>T (p.Asp717=) c.2184C>T (p.Asp728=) c.1752C>T (p.Asp584=) | dbSNP ExAC gnomAD v2 gnomAD v4 |