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