Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.119414205C>A | CA354050243 | ARHGAP31 | c.2276C>A (p.Pro759His) c.2183C>A (p.Pro728His) c.2216C>A (p.Pro739His) c.1784C>A (p.Pro595His) | gnomAD v4 |
3 | g.119414205C>G | CA354050246 | ARHGAP31 | c.2276C>G (p.Pro759Arg) c.2183C>G (p.Pro728Arg) c.2216C>G (p.Pro739Arg) c.1784C>G (p.Pro595Arg) | |
3 | g.119414205C>T | CA354050247 | ARHGAP31 | c.2276C>T (p.Pro759Leu) c.2183C>T (p.Pro728Leu) c.2216C>T (p.Pro739Leu) c.1784C>T (p.Pro595Leu) | |
3 | g.119414206T>A | CA435411700 | ARHGAP31 | c.2277T>A (p.Pro759=) c.2184T>A (p.Pro728=) c.2217T>A (p.Pro739=) c.1785T>A (p.Pro595=) | |
3 | g.119414206T>C | CA435411701 | ARHGAP31 | c.2277T>C (p.Pro759=) c.2184T>C (p.Pro728=) c.2217T>C (p.Pro739=) c.1785T>C (p.Pro595=) | |
3 | g.119414206T>G | CA435411702 | ARHGAP31 | c.2277T>G (p.Pro759=) c.2184T>G (p.Pro728=) c.2217T>G (p.Pro739=) c.1785T>G (p.Pro595=) | |
3 | g.119414207T>A | CA354050257 | ARHGAP31 | c.2278T>A (p.Phe760Ile) c.2185T>A (p.Phe729Ile) c.2218T>A (p.Phe740Ile) c.1786T>A (p.Phe596Ile) | |
3 | g.119414207T>C | CA354050256 | ARHGAP31 | c.2278T>C (p.Phe760Leu) c.2185T>C (p.Phe729Leu) c.2218T>C (p.Phe740Leu) c.1786T>C (p.Phe596Leu) | |
3 | g.119414207T>G | CA354050253 | ARHGAP31 | c.2278T>G (p.Phe760Val) c.2185T>G (p.Phe729Val) c.2218T>G (p.Phe740Val) c.1786T>G (p.Phe596Val) | |
3 | g.119414208T>A | CA354050258 | ARHGAP31 | c.2279T>A (p.Phe760Tyr) c.2186T>A (p.Phe729Tyr) c.2219T>A (p.Phe740Tyr) c.1787T>A (p.Phe596Tyr) | |
3 | g.119414208T>C | CA354050259 | ARHGAP31 | c.2279T>C (p.Phe760Ser) c.2186T>C (p.Phe729Ser) c.2219T>C (p.Phe740Ser) c.1787T>C (p.Phe596Ser) | |
3 | g.119414208T>G | CA354050262 | ARHGAP31 | c.2279T>G (p.Phe760Cys) c.2186T>G (p.Phe729Cys) c.2219T>G (p.Phe740Cys) c.1787T>G (p.Phe596Cys) | |
3 | g.119414209T>A | CA354050266 | ARHGAP31 | c.2280T>A (p.Phe760Leu) c.2187T>A (p.Phe729Leu) c.2220T>A (p.Phe740Leu) c.1788T>A (p.Phe596Leu) | |
3 | g.119414209T>C | CA435411705 | ARHGAP31 | c.2280T>C (p.Phe760=) c.2187T>C (p.Phe729=) c.2220T>C (p.Phe740=) c.1788T>C (p.Phe596=) | |
3 | g.119414209T>G | CA354050270 | ARHGAP31 | c.2280T>G (p.Phe760Leu) c.2187T>G (p.Phe729Leu) c.2220T>G (p.Phe740Leu) c.1788T>G (p.Phe596Leu) | dbSNP |
3 | g.119414209T= | CA1396548601 | ARHGAP31 | c.2280T= (p.Phe760=) c.2187T= (p.Phe729=) c.2220T= (p.Phe740=) c.1788T= (p.Phe596=) | |
3 | g.119414210G>A | CA354050281 | ARHGAP31 | c.2281G>A (p.Glu761Lys) c.2188G>A (p.Glu730Lys) c.2221G>A (p.Glu741Lys) c.1789G>A (p.Glu597Lys) | |
3 | g.119414210G>C | CA354050285 | ARHGAP31 | c.2281G>C (p.Glu761Gln) c.2188G>C (p.Glu730Gln) c.2221G>C (p.Glu741Gln) c.1789G>C (p.Glu597Gln) | |
3 | g.119414210G>T | CA354050289 | ARHGAP31 | c.2281G>T (p.Glu761Ter) c.2188G>T (p.Glu730Ter) c.2221G>T (p.Glu741Ter) c.1789G>T (p.Glu597Ter) | |
3 | g.119414211A>C | CA354050296 | ARHGAP31 | c.2282A>C (p.Glu761Ala) c.2189A>C (p.Glu730Ala) c.2222A>C (p.Glu741Ala) c.1790A>C (p.Glu597Ala) | |
3 | g.119414211A>G | CA354050302 | ARHGAP31 | c.2282A>G (p.Glu761Gly) c.2189A>G (p.Glu730Gly) c.2222A>G (p.Glu741Gly) c.1790A>G (p.Glu597Gly) | |
3 | g.119414211A>T | CA354050303 | ARHGAP31 | c.2282A>T (p.Glu761Val) c.2189A>T (p.Glu730Val) c.2222A>T (p.Glu741Val) c.1790A>T (p.Glu597Val) | |
3 | g.119414212G>A | CA435411710 | ARHGAP31 | c.2283G>A (p.Glu761=) c.2190G>A (p.Glu730=) c.2223G>A (p.Glu741=) c.1791G>A (p.Glu597=) | |
3 | g.119414212G>C | CA354050309 | ARHGAP31 | c.2283G>C (p.Glu761Asp) c.2190G>C (p.Glu730Asp) c.2223G>C (p.Glu741Asp) c.1791G>C (p.Glu597Asp) | |
3 | g.119414212G>T | CA354050310 | ARHGAP31 | c.2283G>T (p.Glu761Asp) c.2190G>T (p.Glu730Asp) c.2223G>T (p.Glu741Asp) c.1791G>T (p.Glu597Asp) | |
3 | g.119414213A>C | CA354050313 | ARHGAP31 | c.2284A>C (p.Lys762Gln) c.2191A>C (p.Lys731Gln) c.2224A>C (p.Lys742Gln) c.1792A>C (p.Lys598Gln) | |
3 | g.119414213A>G | CA354050317 | ARHGAP31 | c.2284A>G (p.Lys762Glu) c.2191A>G (p.Lys731Glu) c.2224A>G (p.Lys742Glu) c.1792A>G (p.Lys598Glu) | |
3 | g.119414213A>T | CA354050315 | ARHGAP31 | c.2284A>T (p.Lys762Ter) c.2191A>T (p.Lys731Ter) c.2224A>T (p.Lys742Ter) c.1792A>T (p.Lys598Ter) | |
3 | g.119414214A= | CA1396548602 | ARHGAP31 | c.2285A= (p.Lys762=) c.2192A= (p.Lys731=) c.2225A= (p.Lys742=) c.1793A= (p.Lys598=) | |
3 | g.119414214A>C | CA2553998 | ARHGAP31 | c.2285A>C (p.Lys762Thr) c.2192A>C (p.Lys731Thr) c.2225A>C (p.Lys742Thr) c.1793A>C (p.Lys598Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119414214A>G | CA2553999 | ARHGAP31 | c.2285A>G (p.Lys762Arg) c.2192A>G (p.Lys731Arg) c.2225A>G (p.Lys742Arg) c.1793A>G (p.Lys598Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.119414214A>T | CA354050326 | ARHGAP31 | c.2285A>T (p.Lys762Met) c.2192A>T (p.Lys731Met) c.2225A>T (p.Lys742Met) c.1793A>T (p.Lys598Met) | |
3 | g.119414215G>A | CA435411715 | ARHGAP31 | c.2286G>A (p.Lys762=) c.2193G>A (p.Lys731=) c.2226G>A (p.Lys742=) c.1794G>A (p.Lys598=) | gnomAD v4 |
3 | g.119414215G>C | CA354050329 | ARHGAP31 | c.2286G>C (p.Lys762Asn) c.2193G>C (p.Lys731Asn) c.2226G>C (p.Lys742Asn) c.1794G>C (p.Lys598Asn) | |
3 | g.119414215G>T | CA354050330 | ARHGAP31 | c.2286G>T (p.Lys762Asn) c.2193G>T (p.Lys731Asn) c.2226G>T (p.Lys742Asn) c.1794G>T (p.Lys598Asn) | gnomAD v4 |
3 | g.119414216G>A | CA354050334 | ARHGAP31 | c.2287G>A (p.Ala763Thr) c.2194G>A (p.Ala732Thr) c.2227G>A (p.Ala743Thr) c.1795G>A (p.Ala599Thr) | dbSNP |
3 | g.119414216G>C | CA81697499 | ARHGAP31 | c.2287G>C (p.Ala763Pro) c.2194G>C (p.Ala732Pro) c.2227G>C (p.Ala743Pro) c.1795G>C (p.Ala599Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.119414216G= | CA1396548603 | ARHGAP31 | c.2287G= (p.Ala763=) c.2194G= (p.Ala732=) c.2227G= (p.Ala743=) c.1795G= (p.Ala599=) | |
3 | g.119414216G>T | CA354050336 | ARHGAP31 | c.2287G>T (p.Ala763Ser) c.2194G>T (p.Ala732Ser) c.2227G>T (p.Ala743Ser) c.1795G>T (p.Ala599Ser) | gnomAD v4 |
3 | g.119414217C>A | CA354050337 | ARHGAP31 | c.2288C>A (p.Ala763Glu) c.2195C>A (p.Ala732Glu) c.2228C>A (p.Ala743Glu) c.1796C>A (p.Ala599Glu) | |
3 | g.119414217C= | CA1396548604 | ARHGAP31 | c.2288C= (p.Ala763=) c.2195C= (p.Ala732=) c.2228C= (p.Ala743=) c.1796C= (p.Ala599=) | |
3 | g.119414217C>G | CA354050340 | ARHGAP31 | c.2288C>G (p.Ala763Gly) c.2195C>G (p.Ala732Gly) c.2228C>G (p.Ala743Gly) c.1796C>G (p.Ala599Gly) | |
3 | g.119414217C>T | CA2554000 | ARHGAP31 | c.2288C>T (p.Ala763Val) c.2195C>T (p.Ala732Val) c.2228C>T (p.Ala743Val) c.1796C>T (p.Ala599Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.119414218A= | CA1396548605 | ARHGAP31 | c.2289A= (p.Ala763=) c.2196A= (p.Ala732=) c.2229A= (p.Ala743=) c.1797A= (p.Ala599=) | |
3 | g.119414218A>C | CA435411721 | ARHGAP31 | c.2289A>C (p.Ala763=) c.2196A>C (p.Ala732=) c.2229A>C (p.Ala743=) c.1797A>C (p.Ala599=) | |
3 | g.119414218A>G | CA435411720 | ARHGAP31 | c.2289A>G (p.Ala763=) c.2196A>G (p.Ala732=) c.2229A>G (p.Ala743=) c.1797A>G (p.Ala599=) | |
3 | g.119414218A>T | CA435411719 | ARHGAP31 | c.2289A>T (p.Ala763=) c.2196A>T (p.Ala732=) c.2229A>T (p.Ala743=) c.1797A>T (p.Ala599=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.119414219T>A | CA354050345 | ARHGAP31 | c.2290T>A (p.Ser764Thr) c.2197T>A (p.Ser733Thr) c.2230T>A (p.Ser744Thr) c.1798T>A (p.Ser600Thr) | |
3 | g.119414219T>C | CA354050346 | ARHGAP31 | c.2290T>C (p.Ser764Pro) c.2197T>C (p.Ser733Pro) c.2230T>C (p.Ser744Pro) c.1798T>C (p.Ser600Pro) | |
3 | g.119414219T>G | CA354050344 | ARHGAP31 | c.2290T>G (p.Ser764Ala) c.2197T>G (p.Ser733Ala) c.2230T>G (p.Ser744Ala) c.1798T>G (p.Ser600Ala) | |
3 | g.119414220C>A | CA354050347 | ARHGAP31 | c.2291C>A (p.Ser764Tyr) c.2198C>A (p.Ser733Tyr) c.2231C>A (p.Ser744Tyr) c.1799C>A (p.Ser600Tyr) | |
3 | g.119414220C>G | CA354050349 | ARHGAP31 | c.2291C>G (p.Ser764Cys) c.2198C>G (p.Ser733Cys) c.2231C>G (p.Ser744Cys) c.1799C>G (p.Ser600Cys) | |
3 | g.119414220C>T | CA354050352 | ARHGAP31 | c.2291C>T (p.Ser764Phe) c.2198C>T (p.Ser733Phe) c.2231C>T (p.Ser744Phe) c.1799C>T (p.Ser600Phe) | |
3 | g.119414221T>A | CA435411723 | ARHGAP31 | c.2292T>A (p.Ser764=) c.2199T>A (p.Ser733=) c.2232T>A (p.Ser744=) c.1800T>A (p.Ser600=) | |
3 | g.119414221T>C | CA2554001 | ARHGAP31 | c.2292T>C (p.Ser764=) c.2199T>C (p.Ser733=) c.2232T>C (p.Ser744=) c.1800T>C (p.Ser600=) | dbSNP ExAC gnomAD v4 |
3 | g.119414221T>G | CA435411724 | ARHGAP31 | c.2292T>G (p.Ser764=) c.2199T>G (p.Ser733=) c.2232T>G (p.Ser744=) c.1800T>G (p.Ser600=) | |
3 | g.119414221T= | CA1396548606 | ARHGAP31 | c.2292T= (p.Ser764=) c.2199T= (p.Ser733=) c.2232T= (p.Ser744=) c.1800T= (p.Ser600=) | |
3 | g.119414222C>A | CA354050357 | ARHGAP31 | c.2293C>A (p.Pro765Thr) c.2200C>A (p.Pro734Thr) c.2233C>A (p.Pro745Thr) c.1801C>A (p.Pro601Thr) | |
3 | g.119414222C>G | CA354050358 | ARHGAP31 | c.2293C>G (p.Pro765Ala) c.2200C>G (p.Pro734Ala) c.2233C>G (p.Pro745Ala) c.1801C>G (p.Pro601Ala) | dbSNP |
3 | g.119414222C>T | CA354050360 | ARHGAP31 | c.2293C>T (p.Pro765Ser) c.2200C>T (p.Pro734Ser) c.2233C>T (p.Pro745Ser) c.1801C>T (p.Pro601Ser) | gnomAD v4 |
3 | g.119414223C>A | CA354050363 | ARHGAP31 | c.2294C>A (p.Pro765Gln) c.2201C>A (p.Pro734Gln) c.2234C>A (p.Pro745Gln) c.1802C>A (p.Pro601Gln) | |
3 | g.119414223C>G | CA354050366 | ARHGAP31 | c.2294C>G (p.Pro765Arg) c.2201C>G (p.Pro734Arg) c.2234C>G (p.Pro745Arg) c.1802C>G (p.Pro601Arg) | |
3 | g.119414223C>T | CA354050368 | ARHGAP31 | c.2294C>T (p.Pro765Leu) c.2201C>T (p.Pro734Leu) c.2234C>T (p.Pro745Leu) c.1802C>T (p.Pro601Leu) | gnomAD v4 |
3 | g.119414224A>C | CA435411725 | ARHGAP31 | c.2295A>C (p.Pro765=) c.2202A>C (p.Pro734=) c.2235A>C (p.Pro745=) c.1803A>C (p.Pro601=) | |
3 | g.119414224A>G | CA435411726 | ARHGAP31 | c.2295A>G (p.Pro765=) c.2202A>G (p.Pro734=) c.2235A>G (p.Pro745=) c.1803A>G (p.Pro601=) | |
3 | g.119414224A>T | CA435411727 | ARHGAP31 | c.2295A>T (p.Pro765=) c.2202A>T (p.Pro734=) c.2235A>T (p.Pro745=) c.1803A>T (p.Pro601=) | |
3 | g.119414225C>A | CA354050370 | ARHGAP31 | c.2296C>A (p.Gln766Lys) c.2203C>A (p.Gln735Lys) c.2236C>A (p.Gln746Lys) c.1804C>A (p.Gln602Lys) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.119414225C= | CA1396548607 | ARHGAP31 | c.2296C= (p.Gln766=) c.2203C= (p.Gln735=) c.2236C= (p.Gln746=) c.1804C= (p.Gln602=) | |
3 | g.119414225C>G | CA354050375 | ARHGAP31 | c.2296C>G (p.Gln766Glu) c.2203C>G (p.Gln735Glu) c.2236C>G (p.Gln746Glu) c.1804C>G (p.Gln602Glu) | gnomAD v4 |
3 | g.119414225C>T | CA354050378 | ARHGAP31 | c.2296C>T (p.Gln766Ter) c.2203C>T (p.Gln735Ter) c.2236C>T (p.Gln746Ter) c.1804C>T (p.Gln602Ter) | |
3 | g.119414226A>C | CA354050389 | ARHGAP31 | c.2297A>C (p.Gln766Pro) c.2204A>C (p.Gln735Pro) c.2237A>C (p.Gln746Pro) c.1805A>C (p.Gln602Pro) | |
3 | g.119414226A>G | CA354050383 | ARHGAP31 | c.2297A>G (p.Gln766Arg) c.2204A>G (p.Gln735Arg) c.2237A>G (p.Gln746Arg) c.1805A>G (p.Gln602Arg) | |
3 | g.119414226A>T | CA354050381 | ARHGAP31 | c.2297A>T (p.Gln766Leu) c.2204A>T (p.Gln735Leu) c.2237A>T (p.Gln746Leu) c.1805A>T (p.Gln602Leu) | |
3 | g.119414227A>C | CA354050391 | ARHGAP31 | c.2298A>C (p.Gln766His) c.2205A>C (p.Gln735His) c.2238A>C (p.Gln746His) c.1806A>C (p.Gln602His) | |
3 | g.119414227A>G | CA435411729 | ARHGAP31 | c.2298A>G (p.Gln766=) c.2205A>G (p.Gln735=) c.2238A>G (p.Gln746=) c.1806A>G (p.Gln602=) | |
3 | g.119414227A>T | CA354050393 | ARHGAP31 | c.2298A>T (p.Gln766His) c.2205A>T (p.Gln735His) c.2238A>T (p.Gln746His) c.1806A>T (p.Gln602His) | |
3 | g.119414228G>A | CA354050398 | ARHGAP31 | c.2299G>A (p.Ala767Thr) c.2206G>A (p.Ala736Thr) c.2239G>A (p.Ala747Thr) c.1807G>A (p.Ala603Thr) | dbSNP gnomAD v4 |
3 | g.119414228G>C | CA354050399 | ARHGAP31 | c.2299G>C (p.Ala767Pro) c.2206G>C (p.Ala736Pro) c.2239G>C (p.Ala747Pro) c.1807G>C (p.Ala603Pro) | |
3 | g.119414228G= | CA1396548608 | ARHGAP31 | c.2299G= (p.Ala767=) c.2206G= (p.Ala736=) c.2239G= (p.Ala747=) c.1807G= (p.Ala603=) | |
3 | g.119414228G>T | CA354050402 | ARHGAP31 | c.2299G>T (p.Ala767Ser) c.2206G>T (p.Ala736Ser) c.2239G>T (p.Ala747Ser) c.1807G>T (p.Ala603Ser) | |
3 | g.119414229C>A | CA354050405 | ARHGAP31 | c.2300C>A (p.Ala767Glu) c.2207C>A (p.Ala736Glu) c.2240C>A (p.Ala747Glu) c.1808C>A (p.Ala603Glu) | |
3 | g.119414229C>G | CA354050407 | ARHGAP31 | c.2300C>G (p.Ala767Gly) c.2207C>G (p.Ala736Gly) c.2240C>G (p.Ala747Gly) c.1808C>G (p.Ala603Gly) | |
3 | g.119414229C>T | CA354050408 | ARHGAP31 | c.2300C>T (p.Ala767Val) c.2207C>T (p.Ala736Val) c.2240C>T (p.Ala747Val) c.1808C>T (p.Ala603Val) | |
3 | g.119414230A>C | CA435411732 | ARHGAP31 | c.2301A>C (p.Ala767=) c.2208A>C (p.Ala736=) c.2241A>C (p.Ala747=) c.1809A>C (p.Ala603=) | |
3 | g.119414230A>G | CA435411733 | ARHGAP31 | c.2301A>G (p.Ala767=) c.2208A>G (p.Ala736=) c.2241A>G (p.Ala747=) c.1809A>G (p.Ala603=) | |
3 | g.119414230A>T | CA435411734 | ARHGAP31 | c.2301A>T (p.Ala767=) c.2208A>T (p.Ala736=) c.2241A>T (p.Ala747=) c.1809A>T (p.Ala603=) | |
3 | g.119414231A= | CA1396548609 | ARHGAP31 | c.2302A= (p.Thr768=) c.2209A= (p.Thr737=) c.2242A= (p.Thr748=) c.1810A= (p.Thr604=) | |
3 | g.119414231A>C | CA354050410 | ARHGAP31 | c.2302A>C (p.Thr768Pro) c.2209A>C (p.Thr737Pro) c.2242A>C (p.Thr748Pro) c.1810A>C (p.Thr604Pro) | |
3 | g.119414231A>G | CA354050413 | ARHGAP31 | c.2302A>G (p.Thr768Ala) c.2209A>G (p.Thr737Ala) c.2242A>G (p.Thr748Ala) c.1810A>G (p.Thr604Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.119414231A>T | CA354050415 | ARHGAP31 | c.2302A>T (p.Thr768Ser) c.2209A>T (p.Thr737Ser) c.2242A>T (p.Thr748Ser) c.1810A>T (p.Thr604Ser) | |
3 | g.119414232C>A | CA354050418 | ARHGAP31 | c.2303C>A (p.Thr768Lys) c.2210C>A (p.Thr737Lys) c.2243C>A (p.Thr748Lys) c.1811C>A (p.Thr604Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119414232C= | CA1396548610 | ARHGAP31 | c.2303C= (p.Thr768=) c.2210C= (p.Thr737=) c.2243C= (p.Thr748=) c.1811C= (p.Thr604=) | |
3 | g.119414232C>G | CA354050419 | ARHGAP31 | c.2303C>G (p.Thr768Arg) c.2210C>G (p.Thr737Arg) c.2243C>G (p.Thr748Arg) c.1811C>G (p.Thr604Arg) | |
3 | g.119414232C>T | CA354050421 | ARHGAP31 | c.2303C>T (p.Thr768Ile) c.2210C>T (p.Thr737Ile) c.2243C>T (p.Thr748Ile) c.1811C>T (p.Thr604Ile) | |
3 | g.119414233A>C | CA435411737 | ARHGAP31 | c.2304A>C (p.Thr768=) c.2211A>C (p.Thr737=) c.2244A>C (p.Thr748=) c.1812A>C (p.Thr604=) | |
3 | g.119414233A>G | CA435411739 | ARHGAP31 | c.2304A>G (p.Thr768=) c.2211A>G (p.Thr737=) c.2244A>G (p.Thr748=) c.1812A>G (p.Thr604=) | gnomAD v4 |
3 | g.119414233A>T | CA435411740 | ARHGAP31 | c.2304A>T (p.Thr768=) c.2211A>T (p.Thr737=) c.2244A>T (p.Thr748=) c.1812A>T (p.Thr604=) | |
3 | g.119414234G>A | CA354050427 | ARHGAP31 | c.2305G>A (p.Val769Met) c.2212G>A (p.Val738Met) c.2245G>A (p.Val749Met) c.1813G>A (p.Val605Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119414234G>C | CA354050430 | ARHGAP31 | c.2305G>C (p.Val769Leu) c.2212G>C (p.Val738Leu) c.2245G>C (p.Val749Leu) c.1813G>C (p.Val605Leu) | |
3 | g.119414234G= | CA1396548611 | ARHGAP31 | c.2305G= (p.Val769=) c.2212G= (p.Val738=) c.2245G= (p.Val749=) c.1813G= (p.Val605=) | |
3 | g.119414234G>T | CA354050424 | ARHGAP31 | c.2305G>T (p.Val769Leu) c.2212G>T (p.Val738Leu) c.2245G>T (p.Val749Leu) c.1813G>T (p.Val605Leu) | |
3 | g.119414235T>A | CA354050433 | ARHGAP31 | c.2306T>A (p.Val769Glu) c.2213T>A (p.Val738Glu) c.2246T>A (p.Val749Glu) c.1814T>A (p.Val605Glu) | |
3 | g.119414235T>C | CA2554002 | ARHGAP31 | c.2306T>C (p.Val769Ala) c.2213T>C (p.Val738Ala) c.2246T>C (p.Val749Ala) c.1814T>C (p.Val605Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.119414235T>G | CA354050436 | ARHGAP31 | c.2306T>G (p.Val769Gly) c.2213T>G (p.Val738Gly) c.2246T>G (p.Val749Gly) c.1814T>G (p.Val605Gly) | |
3 | g.119414235T= | CA1396548612 | ARHGAP31 | c.2306T= (p.Val769=) c.2213T= (p.Val738=) c.2246T= (p.Val749=) c.1814T= (p.Val605=) | |
3 | g.119414236G>A | CA435411744 | ARHGAP31 | c.2307G>A (p.Val769=) c.2214G>A (p.Val738=) c.2247G>A (p.Val749=) c.1815G>A (p.Val605=) | dbSNP gnomAD v4 |
3 | g.119414236G>C | CA435411743 | ARHGAP31 | c.2307G>C (p.Val769=) c.2214G>C (p.Val738=) c.2247G>C (p.Val749=) c.1815G>C (p.Val605=) | gnomAD v4 |
3 | g.119414236G= | CA1396548613 | ARHGAP31 | c.2307G= (p.Val769=) c.2214G= (p.Val738=) c.2247G= (p.Val749=) c.1815G= (p.Val605=) | |
3 | g.119414236G>T | CA435411742 | ARHGAP31 | c.2307G>T (p.Val769=) c.2214G>T (p.Val738=) c.2247G>T (p.Val749=) c.1815G>T (p.Val605=) | |
3 | g.119414237G>A | CA354050437 | ARHGAP31 | c.2308G>A (p.Glu770Lys) c.2215G>A (p.Glu739Lys) c.2248G>A (p.Glu750Lys) c.1816G>A (p.Glu606Lys) | |
3 | g.119414237G>C | CA354050438 | ARHGAP31 | c.2308G>C (p.Glu770Gln) c.2215G>C (p.Glu739Gln) c.2248G>C (p.Glu750Gln) c.1816G>C (p.Glu606Gln) | |
3 | g.119414237G>T | CA354050440 | ARHGAP31 | c.2308G>T (p.Glu770Ter) c.2215G>T (p.Glu739Ter) c.2248G>T (p.Glu750Ter) c.1816G>T (p.Glu606Ter) | |
3 | g.119414238A>C | CA354050450 | ARHGAP31 | c.2309A>C (p.Glu770Ala) c.2216A>C (p.Glu739Ala) c.2249A>C (p.Glu750Ala) c.1817A>C (p.Glu606Ala) | |
3 | g.119414238A>G | CA354050442 | ARHGAP31 | c.2309A>G (p.Glu770Gly) c.2216A>G (p.Glu739Gly) c.2249A>G (p.Glu750Gly) c.1817A>G (p.Glu606Gly) | |
3 | g.119414238A>T | CA354050447 | ARHGAP31 | c.2309A>T (p.Glu770Val) c.2216A>T (p.Glu739Val) c.2249A>T (p.Glu750Val) c.1817A>T (p.Glu606Val) | |
3 | g.119414239A>C | CA354050452 | ARHGAP31 | c.2310A>C (p.Glu770Asp) c.2217A>C (p.Glu739Asp) c.2250A>C (p.Glu750Asp) c.1818A>C (p.Glu606Asp) | |
3 | g.119414239A>G | CA435411749 | ARHGAP31 | c.2310A>G (p.Glu770=) c.2217A>G (p.Glu739=) c.2250A>G (p.Glu750=) c.1818A>G (p.Glu606=) | |
3 | g.119414239A>T | CA354050456 | ARHGAP31 | c.2310A>T (p.Glu770Asp) c.2217A>T (p.Glu739Asp) c.2250A>T (p.Glu750Asp) c.1818A>T (p.Glu606Asp) | |
3 | g.119414240G>A | CA354050458 | ARHGAP31 | c.2311G>A (p.Val771Ile) c.2218G>A (p.Val740Ile) c.2251G>A (p.Val751Ile) c.1819G>A (p.Val607Ile) | |
3 | g.119414240G>C | CA354050460 | ARHGAP31 | c.2311G>C (p.Val771Leu) c.2218G>C (p.Val740Leu) c.2251G>C (p.Val751Leu) c.1819G>C (p.Val607Leu) | |
3 | g.119414240G>T | CA354050462 | ARHGAP31 | c.2311G>T (p.Val771Leu) c.2218G>T (p.Val740Leu) c.2251G>T (p.Val751Leu) c.1819G>T (p.Val607Leu) | |
3 | g.119414241T>A | CA354050466 | ARHGAP31 | c.2312T>A (p.Val771Glu) c.2219T>A (p.Val740Glu) c.2252T>A (p.Val751Glu) c.1820T>A (p.Val607Glu) | |
3 | g.119414241T>C | CA2554003 | ARHGAP31 | c.2312T>C (p.Val771Ala) c.2219T>C (p.Val740Ala) c.2252T>C (p.Val751Ala) c.1820T>C (p.Val607Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119414241T>G | CA354050469 | ARHGAP31 | c.2312T>G (p.Val771Gly) c.2219T>G (p.Val740Gly) c.2252T>G (p.Val751Gly) c.1820T>G (p.Val607Gly) | |
3 | g.119414241T= | CA1396548614 | ARHGAP31 | c.2312T= (p.Val771=) c.2219T= (p.Val740=) c.2252T= (p.Val751=) c.1820T= (p.Val607=) | |
3 | g.119414242A= | CA1396548615 | ARHGAP31 | c.2313A= (p.Val771=) c.2220A= (p.Val740=) c.2253A= (p.Val751=) c.1821A= (p.Val607=) | |
3 | g.119414242A>C | CA2554004 | ARHGAP31 | c.2313A>C (p.Val771=) c.2220A>C (p.Val740=) c.2253A>C (p.Val751=) c.1821A>C (p.Val607=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119414242A>G | CA435411753 | ARHGAP31 | c.2313A>G (p.Val771=) c.2220A>G (p.Val740=) c.2253A>G (p.Val751=) c.1821A>G (p.Val607=) | |
3 | g.119414242A>T | CA435411755 | ARHGAP31 | c.2313A>T (p.Val771=) c.2220A>T (p.Val740=) c.2253A>T (p.Val751=) c.1821A>T (p.Val607=) | |
3 | g.119414243G>A | CA2554005 | ARHGAP31 | c.2314G>A (p.Gly772Arg) c.2221G>A (p.Gly741Arg) c.2254G>A (p.Gly752Arg) c.1822G>A (p.Gly608Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119414243G>C | CA354050479 | ARHGAP31 | c.2314G>C (p.Gly772Arg) c.2221G>C (p.Gly741Arg) c.2254G>C (p.Gly752Arg) c.1822G>C (p.Gly608Arg) | |
3 | g.119414243G= | CA1396548616 | ARHGAP31 | c.2314G= (p.Gly772=) c.2221G= (p.Gly741=) c.2254G= (p.Gly752=) c.1822G= (p.Gly608=) | |
3 | g.119414243G>T | CA354050482 | ARHGAP31 | c.2314G>T (p.Gly772Ter) c.2221G>T (p.Gly741Ter) c.2254G>T (p.Gly752Ter) c.1822G>T (p.Gly608Ter) | |
3 | g.119414244G>A | CA2554006 | ARHGAP31 | c.2315G>A (p.Gly772Glu) c.2222G>A (p.Gly741Glu) c.2255G>A (p.Gly752Glu) c.1823G>A (p.Gly608Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119414244G>C | CA354050492 | ARHGAP31 | c.2315G>C (p.Gly772Ala) c.2222G>C (p.Gly741Ala) c.2255G>C (p.Gly752Ala) c.1823G>C (p.Gly608Ala) | |
3 | g.119414244G= | CA1396548617 | ARHGAP31 | c.2315G= (p.Gly772=) c.2222G= (p.Gly741=) c.2255G= (p.Gly752=) c.1823G= (p.Gly608=) | |
3 | g.119414244G>T | CA354050494 | ARHGAP31 | c.2315G>T (p.Gly772Val) c.2222G>T (p.Gly741Val) c.2255G>T (p.Gly752Val) c.1823G>T (p.Gly608Val) | |
3 | g.119414245A>C | CA435411758 | ARHGAP31 | c.2316A>C (p.Gly772=) c.2223A>C (p.Gly741=) c.2256A>C (p.Gly752=) c.1824A>C (p.Gly608=) | gnomAD v4 |
3 | g.119414245A>G | CA435411759 | ARHGAP31 | c.2316A>G (p.Gly772=) c.2223A>G (p.Gly741=) c.2256A>G (p.Gly752=) c.1824A>G (p.Gly608=) | |
3 | g.119414245A>T | CA435411761 | ARHGAP31 | c.2316A>T (p.Gly772=) c.2223A>T (p.Gly741=) c.2256A>T (p.Gly752=) c.1824A>T (p.Gly608=) | |
3 | g.119414246G>A | CA354050498 | ARHGAP31 | c.2317G>A (p.Gly773Ser) c.2224G>A (p.Gly742Ser) c.2257G>A (p.Gly753Ser) c.1825G>A (p.Gly609Ser) | |
3 | g.119414246G>C | CA354050499 | ARHGAP31 | c.2317G>C (p.Gly773Arg) c.2224G>C (p.Gly742Arg) c.2257G>C (p.Gly753Arg) c.1825G>C (p.Gly609Arg) | |
3 | g.119414246G>T | CA354050505 | ARHGAP31 | c.2317G>T (p.Gly773Cys) c.2224G>T (p.Gly742Cys) c.2257G>T (p.Gly753Cys) c.1825G>T (p.Gly609Cys) | |
3 | g.119414247G>A | CA354050512 | ARHGAP31 | c.2318G>A (p.Gly773Asp) c.2225G>A (p.Gly742Asp) c.2258G>A (p.Gly753Asp) c.1826G>A (p.Gly609Asp) | gnomAD v4 |
3 | g.119414247G>C | CA354050511 | ARHGAP31 | c.2318G>C (p.Gly773Ala) c.2225G>C (p.Gly742Ala) c.2258G>C (p.Gly753Ala) c.1826G>C (p.Gly609Ala) | |
3 | g.119414247G= | CA1396548618 | ARHGAP31 | c.2318G= (p.Gly773=) c.2225G= (p.Gly742=) c.2258G= (p.Gly753=) c.1826G= (p.Gly609=) | |
3 | g.119414247G>T | CA2554007 | ARHGAP31 | c.2318G>T (p.Gly773Val) c.2225G>T (p.Gly742Val) c.2258G>T (p.Gly753Val) c.1826G>T (p.Gly609Val) | dbSNP ExAC gnomAD v2 |
3 | g.119414248C>A | CA435411767 | ARHGAP31 | c.2319C>A (p.Gly773=) c.2226C>A (p.Gly742=) c.2259C>A (p.Gly753=) c.1827C>A (p.Gly609=) | |
3 | g.119414248C>G | CA435411765 | ARHGAP31 | c.2319C>G (p.Gly773=) c.2226C>G (p.Gly742=) c.2259C>G (p.Gly753=) c.1827C>G (p.Gly609=) | |
3 | g.119414248C>T | CA435411766 | ARHGAP31 | c.2319C>T (p.Gly773=) c.2226C>T (p.Gly742=) c.2259C>T (p.Gly753=) c.1827C>T (p.Gly609=) | |
3 | g.119414249C>A | CA354050513 | ARHGAP31 | c.2320C>A (p.Pro774Thr) c.2227C>A (p.Pro743Thr) c.2260C>A (p.Pro754Thr) c.1828C>A (p.Pro610Thr) | |
3 | g.119414249C>G | CA354050518 | ARHGAP31 | c.2320C>G (p.Pro774Ala) c.2227C>G (p.Pro743Ala) c.2260C>G (p.Pro754Ala) c.1828C>G (p.Pro610Ala) | |
3 | g.119414249C>T | CA354050515 | ARHGAP31 | c.2320C>T (p.Pro774Ser) c.2227C>T (p.Pro743Ser) c.2260C>T (p.Pro754Ser) c.1828C>T (p.Pro610Ser) | |
3 | g.119414250C>A | CA354050521 | ARHGAP31 | c.2321C>A (p.Pro774Gln) c.2228C>A (p.Pro743Gln) c.2261C>A (p.Pro754Gln) c.1829C>A (p.Pro610Gln) | |
3 | g.119414250C>G | CA354050531 | ARHGAP31 | c.2321C>G (p.Pro774Arg) c.2228C>G (p.Pro743Arg) c.2261C>G (p.Pro754Arg) c.1829C>G (p.Pro610Arg) | |
3 | g.119414250C>T | CA354050528 | ARHGAP31 | c.2321C>T (p.Pro774Leu) c.2228C>T (p.Pro743Leu) c.2261C>T (p.Pro754Leu) c.1829C>T (p.Pro610Leu) | |
3 | g.119414251A= | CA1396548619 | ARHGAP31 | c.2322A= (p.Pro774=) c.2229A= (p.Pro743=) c.2262A= (p.Pro754=) c.1830A= (p.Pro610=) | |
3 | g.119414251A>C | CA435411769 | ARHGAP31 | c.2322A>C (p.Pro774=) c.2229A>C (p.Pro743=) c.2262A>C (p.Pro754=) c.1830A>C (p.Pro610=) | |
3 | g.119414251A>G | CA81697519 | ARHGAP31 | c.2322A>G (p.Pro774=) c.2229A>G (p.Pro743=) c.2262A>G (p.Pro754=) c.1830A>G (p.Pro610=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.119414251A>T | CA435411770 | ARHGAP31 | c.2322A>T (p.Pro774=) c.2229A>T (p.Pro743=) c.2262A>T (p.Pro754=) c.1830A>T (p.Pro610=) | |
3 | g.119414252G>A | CA2554008 | ARHGAP31 | c.2323G>A (p.Gly775Ser) c.2230G>A (p.Gly744Ser) c.2263G>A (p.Gly755Ser) c.1831G>A (p.Gly611Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119414252G>C | CA354050535 | ARHGAP31 | c.2323G>C (p.Gly775Arg) c.2230G>C (p.Gly744Arg) c.2263G>C (p.Gly755Arg) c.1831G>C (p.Gly611Arg) | |
3 | g.119414252G= | CA1396548620 | ARHGAP31 | c.2323G= (p.Gly775=) c.2230G= (p.Gly744=) c.2263G= (p.Gly755=) c.1831G= (p.Gly611=) | |
3 | g.119414252G>T | CA354050538 | ARHGAP31 | c.2323G>T (p.Gly775Cys) c.2230G>T (p.Gly744Cys) c.2263G>T (p.Gly755Cys) c.1831G>T (p.Gly611Cys) | |
3 | g.119414253G>A | CA354050542 | ARHGAP31 | c.2324G>A (p.Gly775Asp) c.2231G>A (p.Gly744Asp) c.2264G>A (p.Gly755Asp) c.1832G>A (p.Gly611Asp) | |
3 | g.119414253G>C | CA354050545 | ARHGAP31 | c.2324G>C (p.Gly775Ala) c.2231G>C (p.Gly744Ala) c.2264G>C (p.Gly755Ala) c.1832G>C (p.Gly611Ala) | |
3 | g.119414253G>T | CA354050547 | ARHGAP31 | c.2324G>T (p.Gly775Val) c.2231G>T (p.Gly744Val) c.2264G>T (p.Gly755Val) c.1832G>T (p.Gly611Val) | |
3 | g.119414254C>A | CA435411773 | ARHGAP31 | c.2325C>A (p.Gly775=) c.2232C>A (p.Gly744=) c.2265C>A (p.Gly755=) c.1833C>A (p.Gly611=) | |
3 | g.119414254C>G | CA435411774 | ARHGAP31 | c.2325C>G (p.Gly775=) c.2232C>G (p.Gly744=) c.2265C>G (p.Gly755=) c.1833C>G (p.Gly611=) | dbSNP |
3 | g.119414254C>T | CA435411775 | ARHGAP31 | c.2325C>T (p.Gly775=) c.2232C>T (p.Gly744=) c.2265C>T (p.Gly755=) c.1833C>T (p.Gly611=) | gnomAD v4 |
3 | g.119414255A>C | CA354050550 | ARHGAP31 | c.2326A>C (p.Asn776His) c.2233A>C (p.Asn745His) c.2266A>C (p.Asn756His) c.1834A>C (p.Asn612His) | gnomAD v4 |
3 | g.119414255A>G | CA354050552 | ARHGAP31 | c.2326A>G (p.Asn776Asp) c.2233A>G (p.Asn745Asp) c.2266A>G (p.Asn756Asp) c.1834A>G (p.Asn612Asp) | |
3 | g.119414255A>T | CA354050556 | ARHGAP31 | c.2326A>T (p.Asn776Tyr) c.2233A>T (p.Asn745Tyr) c.2266A>T (p.Asn756Tyr) c.1834A>T (p.Asn612Tyr) | |
3 | g.119414256A>C | CA354050558 | ARHGAP31 | c.2327A>C (p.Asn776Thr) c.2234A>C (p.Asn745Thr) c.2267A>C (p.Asn756Thr) c.1835A>C (p.Asn612Thr) | COSMIC |
3 | g.119414256A>G | CA354050560 | ARHGAP31 | c.2327A>G (p.Asn776Ser) c.2234A>G (p.Asn745Ser) c.2267A>G (p.Asn756Ser) c.1835A>G (p.Asn612Ser) | |
3 | g.119414256A>T | CA354050565 | ARHGAP31 | c.2327A>T (p.Asn776Ile) c.2234A>T (p.Asn745Ile) c.2267A>T (p.Asn756Ile) c.1835A>T (p.Asn612Ile) | |
3 | g.119414257T>A | CA354050573 | ARHGAP31 | c.2328T>A (p.Asn776Lys) c.2235T>A (p.Asn745Lys) c.2268T>A (p.Asn756Lys) c.1836T>A (p.Asn612Lys) | |
3 | g.119414257T>C | CA435411778 | ARHGAP31 | c.2328T>C (p.Asn776=) c.2235T>C (p.Asn745=) c.2268T>C (p.Asn756=) c.1836T>C (p.Asn612=) | COSMIC |
3 | g.119414257T>G | CA354050570 | ARHGAP31 | c.2328T>G (p.Asn776Lys) c.2235T>G (p.Asn745Lys) c.2268T>G (p.Asn756Lys) c.1836T>G (p.Asn612Lys) | |
3 | g.119414258C>A | CA354050578 | ARHGAP31 | c.2329C>A (p.Leu777Met) c.2236C>A (p.Leu746Met) c.2269C>A (p.Leu757Met) c.1837C>A (p.Leu613Met) | |
3 | g.119414258C>G | CA354050581 | ARHGAP31 | c.2329C>G (p.Leu777Val) c.2236C>G (p.Leu746Val) c.2269C>G (p.Leu757Val) c.1837C>G (p.Leu613Val) | |
3 | g.119414258C>T | CA435411782 | ARHGAP31 | c.2329C>T (p.Leu777=) c.2236C>T (p.Leu746=) c.2269C>T (p.Leu757=) c.1837C>T (p.Leu613=) | gnomAD v4 |
3 | g.119414259T>A | CA354050584 | ARHGAP31 | c.2330T>A (p.Leu777Gln) c.2237T>A (p.Leu746Gln) c.2270T>A (p.Leu757Gln) c.1838T>A (p.Leu613Gln) | |
3 | g.119414259T>C | CA2554009 | ARHGAP31 | c.2330T>C (p.Leu777Pro) c.2237T>C (p.Leu746Pro) c.2270T>C (p.Leu757Pro) c.1838T>C (p.Leu613Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119414259T>G | CA354050587 | ARHGAP31 | c.2330T>G (p.Leu777Arg) c.2237T>G (p.Leu746Arg) c.2270T>G (p.Leu757Arg) c.1838T>G (p.Leu613Arg) | |
3 | g.119414259T= | CA1396548621 | ARHGAP31 | c.2330T= (p.Leu777=) c.2237T= (p.Leu746=) c.2270T= (p.Leu757=) c.1838T= (p.Leu613=) | |
3 | g.119414260G>A | CA435411786 | ARHGAP31 | c.2331G>A (p.Leu777=) c.2238G>A (p.Leu746=) c.2271G>A (p.Leu757=) c.1839G>A (p.Leu613=) | gnomAD v4 |
3 | g.119414260G>C | CA435411787 | ARHGAP31 | c.2331G>C (p.Leu777=) c.2238G>C (p.Leu746=) c.2271G>C (p.Leu757=) c.1839G>C (p.Leu613=) | |
3 | g.119414260G>T | CA435411788 | ARHGAP31 | c.2331G>T (p.Leu777=) c.2238G>T (p.Leu746=) c.2271G>T (p.Leu757=) c.1839G>T (p.Leu613=) | |
3 | g.119414261T>A | CA354050592 | ARHGAP31 | c.2332T>A (p.Ser778Thr) c.2239T>A (p.Ser747Thr) c.2272T>A (p.Ser758Thr) c.1840T>A (p.Ser614Thr) | |
3 | g.119414261T>C | CA354050595 | ARHGAP31 | c.2332T>C (p.Ser778Pro) c.2239T>C (p.Ser747Pro) c.2272T>C (p.Ser758Pro) c.1840T>C (p.Ser614Pro) | |
3 | g.119414261T>G | CA354050597 | ARHGAP31 | c.2332T>G (p.Ser778Ala) c.2239T>G (p.Ser747Ala) c.2272T>G (p.Ser758Ala) c.1840T>G (p.Ser614Ala) | |
3 | g.119414261_119414264delinsTCTC | CA1396548622 | ARHGAP31 | c.2332_2335delinsTCTC (p.Ser778=) c.2239_2242delinsTCTC (p.Ser747=) c.2272_2275delinsTCTC (p.Ser758=) c.1840_1843delinsTCTC (p.Ser614=) | |
3 | g.119414262C>A | CA354050601 | ARHGAP31 | c.2333C>A (p.Ser778Tyr) c.2240C>A (p.Ser747Tyr) c.2273C>A (p.Ser758Tyr) c.1841C>A (p.Ser614Tyr) | |
3 | g.119414262C>G | CA354050604 | ARHGAP31 | c.2333C>G (p.Ser778Cys) c.2240C>G (p.Ser747Cys) c.2273C>G (p.Ser758Cys) c.1841C>G (p.Ser614Cys) | gnomAD v4 |
3 | g.119414262C>T | CA354050607 | ARHGAP31 | c.2333C>T (p.Ser778Phe) c.2240C>T (p.Ser747Phe) c.2273C>T (p.Ser758Phe) c.1841C>T (p.Ser614Phe) | |
3 | g.119414266_119414268del | CA897779913 | ARHGAP31 | c.2337_2339del (p.Pro780del) c.2244_2246del (p.Pro749del) c.2277_2279del (p.Pro760del) c.1845_1847del (p.Pro616del) | dbSNP |
3 | g.119414263T>A | CA435411792 | ARHGAP31 | c.2334T>A (p.Ser778=) c.2241T>A (p.Ser747=) c.2274T>A (p.Ser758=) c.1842T>A (p.Ser614=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.119414263T>C | CA435411793 | ARHGAP31 | c.2334T>C (p.Ser778=) c.2241T>C (p.Ser747=) c.2274T>C (p.Ser758=) c.1842T>C (p.Ser614=) | |
3 | g.119414263T>G | CA435411794 | ARHGAP31 | c.2334T>G (p.Ser778=) c.2241T>G (p.Ser747=) c.2274T>G (p.Ser758=) c.1842T>G (p.Ser614=) | |
3 | g.119414263T= | CA1396548623 | ARHGAP31 | c.2334T= (p.Ser778=) c.2241T= (p.Ser747=) c.2274T= (p.Ser758=) c.1842T= (p.Ser614=) | |
3 | g.119414264C>A | CA354050616 | ARHGAP31 | c.2335C>A (p.Pro779Thr) c.2242C>A (p.Pro748Thr) c.2275C>A (p.Pro759Thr) c.1843C>A (p.Pro615Thr) | |
3 | g.119414264C= | CA1396548624 | ARHGAP31 | c.2335C= (p.Pro779=) c.2242C= (p.Pro748=) c.2275C= (p.Pro759=) c.1843C= (p.Pro615=) | |
3 | g.119414264C>G | CA354050613 | ARHGAP31 | c.2335C>G (p.Pro779Ala) c.2242C>G (p.Pro748Ala) c.2275C>G (p.Pro759Ala) c.1843C>G (p.Pro615Ala) | |
3 | g.119414264C>T | CA2554010 | ARHGAP31 | c.2335C>T (p.Pro779Ser) c.2242C>T (p.Pro748Ser) c.2275C>T (p.Pro759Ser) c.1843C>T (p.Pro615Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119414265del | CA2667110271 | ARHGAP31 | c.2336del (p.Pro779LeufsTer?) c.2243del (p.Pro748LeufsTer?) c.2276del (p.Pro759LeufsTer?) c.1844del (p.Pro615LeufsTer?) | gnomAD v4 |
3 | g.119414265C>A | CA354050619 | ARHGAP31 | c.2336C>A (p.Pro779His) c.2243C>A (p.Pro748His) c.2276C>A (p.Pro759His) c.1844C>A (p.Pro615His) | |
3 | g.119414265C= | CA1396548625 | ARHGAP31 | c.2336C= (p.Pro779=) c.2243C= (p.Pro748=) c.2276C= (p.Pro759=) c.1844C= (p.Pro615=) | |
3 | g.119414265C>G | CA354050622 | ARHGAP31 | c.2336C>G (p.Pro779Arg) c.2243C>G (p.Pro748Arg) c.2276C>G (p.Pro759Arg) c.1844C>G (p.Pro615Arg) | |
3 | g.119414265C>T | CA354050625 | ARHGAP31 | c.2336C>T (p.Pro779Leu) c.2243C>T (p.Pro748Leu) c.2276C>T (p.Pro759Leu) c.1844C>T (p.Pro615Leu) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.119414266T>A | CA435411798 | ARHGAP31 | c.2337T>A (p.Pro779=) c.2244T>A (p.Pro748=) c.2277T>A (p.Pro759=) c.1845T>A (p.Pro615=) | |
3 | g.119414266T>C | CA435411800 | ARHGAP31 | c.2337T>C (p.Pro779=) c.2244T>C (p.Pro748=) c.2277T>C (p.Pro759=) c.1845T>C (p.Pro615=) | |
3 | g.119414266T>G | CA435411801 | ARHGAP31 | c.2337T>G (p.Pro779=) c.2244T>G (p.Pro748=) c.2277T>G (p.Pro759=) c.1845T>G (p.Pro615=) | |
3 | g.119414267C>A | CA354050629 | ARHGAP31 | c.2338C>A (p.Pro780Thr) c.2245C>A (p.Pro749Thr) c.2278C>A (p.Pro760Thr) c.1846C>A (p.Pro616Thr) | gnomAD v4 |
3 | g.119414267C= | CA1396548626 | ARHGAP31 | c.2338C= (p.Pro780=) c.2245C= (p.Pro749=) c.2278C= (p.Pro760=) c.1846C= (p.Pro616=) | |
3 | g.119414267C>G | CA2554011 | ARHGAP31 | c.2338C>G (p.Pro780Ala) c.2245C>G (p.Pro749Ala) c.2278C>G (p.Pro760Ala) c.1846C>G (p.Pro616Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.119414267C>T | CA354050636 | ARHGAP31 | c.2338C>T (p.Pro780Ser) c.2245C>T (p.Pro749Ser) c.2278C>T (p.Pro760Ser) c.1846C>T (p.Pro616Ser) | |
3 | g.119414268C>A | CA354050639 | ARHGAP31 | c.2339C>A (p.Pro780Gln) c.2246C>A (p.Pro749Gln) c.2279C>A (p.Pro760Gln) c.1847C>A (p.Pro616Gln) | |
3 | g.119414268C= | CA1396548627 | ARHGAP31 | c.2339C= (p.Pro780=) c.2246C= (p.Pro749=) c.2279C= (p.Pro760=) c.1847C= (p.Pro616=) | |
3 | g.119414268C>G | CA354050640 | ARHGAP31 | c.2339C>G (p.Pro780Arg) c.2246C>G (p.Pro749Arg) c.2279C>G (p.Pro760Arg) c.1847C>G (p.Pro616Arg) | |
3 | g.119414268C>T | CA354050642 | ARHGAP31 | c.2339C>T (p.Pro780Leu) c.2246C>T (p.Pro749Leu) c.2279C>T (p.Pro760Leu) c.1847C>T (p.Pro616Leu) | dbSNP |
3 | g.119414269A>C | CA435411805 | ARHGAP31 | c.2340A>C (p.Pro780=) c.2247A>C (p.Pro749=) c.2280A>C (p.Pro760=) c.1848A>C (p.Pro616=) | |
3 | g.119414269A>G | CA435411807 | ARHGAP31 | c.2340A>G (p.Pro780=) c.2247A>G (p.Pro749=) c.2280A>G (p.Pro760=) c.1848A>G (p.Pro616=) | |
3 | g.119414269A>T | CA435411806 | ARHGAP31 | c.2340A>T (p.Pro780=) c.2247A>T (p.Pro749=) c.2280A>T (p.Pro760=) c.1848A>T (p.Pro616=) | |
3 | g.119414270C>A | CA354050645 | ARHGAP31 | c.2341C>A (p.Leu781Ile) c.2248C>A (p.Leu750Ile) c.2281C>A (p.Leu761Ile) c.1849C>A (p.Leu617Ile) | |
3 | g.119414270C>G | CA354050647 | ARHGAP31 | c.2341C>G (p.Leu781Val) c.2248C>G (p.Leu750Val) c.2281C>G (p.Leu761Val) c.1849C>G (p.Leu617Val) | |
3 | g.119414270C>T | CA354050650 | ARHGAP31 | c.2341C>T (p.Leu781Phe) c.2248C>T (p.Leu750Phe) c.2281C>T (p.Leu761Phe) c.1849C>T (p.Leu617Phe) | gnomAD v4 |
3 | g.119414271T>A | CA354050662 | ARHGAP31 | c.2342T>A (p.Leu781His) c.2249T>A (p.Leu750His) c.2282T>A (p.Leu761His) c.1850T>A (p.Leu617His) | |
3 | g.119414271T>C | CA354050658 | ARHGAP31 | c.2342T>C (p.Leu781Pro) c.2249T>C (p.Leu750Pro) c.2282T>C (p.Leu761Pro) c.1850T>C (p.Leu617Pro) | |
3 | g.119414271T>G | CA354050655 | ARHGAP31 | c.2342T>G (p.Leu781Arg) c.2249T>G (p.Leu750Arg) c.2282T>G (p.Leu761Arg) c.1850T>G (p.Leu617Arg) | |
3 | g.119414272C>A | CA435411811 | ARHGAP31 | c.2343C>A (p.Leu781=) c.2250C>A (p.Leu750=) c.2283C>A (p.Leu761=) c.1851C>A (p.Leu617=) | |
3 | g.119414272C= | CA1396548628 | ARHGAP31 | c.2343C= (p.Leu781=) c.2250C= (p.Leu750=) c.2283C= (p.Leu761=) c.1851C= (p.Leu617=) | |
3 | g.119414272C>G | CA435411812 | ARHGAP31 | c.2343C>G (p.Leu781=) c.2250C>G (p.Leu750=) c.2283C>G (p.Leu761=) c.1851C>G (p.Leu617=) | |
3 | g.119414272C>T | CA435411813 | ARHGAP31 | c.2343C>T (p.Leu781=) c.2250C>T (p.Leu750=) c.2283C>T (p.Leu761=) c.1851C>T (p.Leu617=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.119414273C>A | CA2554012 | ARHGAP31 | c.2344C>A (p.Pro782Thr) c.2251C>A (p.Pro751Thr) c.2284C>A (p.Pro762Thr) c.1852C>A (p.Pro618Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119414273C= | CA1396548629 | ARHGAP31 | c.2344C= (p.Pro782=) c.2251C= (p.Pro751=) c.2284C= (p.Pro762=) c.1852C= (p.Pro618=) | |
3 | g.119414273C>G | CA354050669 | ARHGAP31 | c.2344C>G (p.Pro782Ala) c.2251C>G (p.Pro751Ala) c.2284C>G (p.Pro762Ala) c.1852C>G (p.Pro618Ala) | |
3 | g.119414273C>T | CA354050671 | ARHGAP31 | c.2344C>T (p.Pro782Ser) c.2251C>T (p.Pro751Ser) c.2284C>T (p.Pro762Ser) c.1852C>T (p.Pro618Ser) | gnomAD v4 |
3 | g.119414274C>A | CA354050674 | ARHGAP31 | c.2345C>A (p.Pro782Gln) c.2252C>A (p.Pro751Gln) c.2285C>A (p.Pro762Gln) c.1853C>A (p.Pro618Gln) | |
3 | g.119414274C>G | CA354050676 | ARHGAP31 | c.2345C>G (p.Pro782Arg) c.2252C>G (p.Pro751Arg) c.2285C>G (p.Pro762Arg) c.1853C>G (p.Pro618Arg) | |
3 | g.119414274C>T | CA354050677 | ARHGAP31 | c.2345C>T (p.Pro782Leu) c.2252C>T (p.Pro751Leu) c.2285C>T (p.Pro762Leu) c.1853C>T (p.Pro618Leu) | |
3 | g.119414275A>C | CA435411815 | ARHGAP31 | c.2346A>C (p.Pro782=) c.2253A>C (p.Pro751=) c.2286A>C (p.Pro762=) c.1854A>C (p.Pro618=) | |
3 | g.119414275A>G | CA435411817 | ARHGAP31 | c.2346A>G (p.Pro782=) c.2253A>G (p.Pro751=) c.2286A>G (p.Pro762=) c.1854A>G (p.Pro618=) | |
3 | g.119414275A>T | CA435411818 | ARHGAP31 | c.2346A>T (p.Pro782=) c.2253A>T (p.Pro751=) c.2286A>T (p.Pro762=) c.1854A>T (p.Pro618=) | |
3 | g.119414276C>A | CA354050682 | ARHGAP31 | c.2347C>A (p.Pro783Thr) c.2254C>A (p.Pro752Thr) c.2287C>A (p.Pro763Thr) c.1855C>A (p.Pro619Thr) | |
3 | g.119414276C= | CA1396548630 | ARHGAP31 | c.2347C= (p.Pro783=) c.2254C= (p.Pro752=) c.2287C= (p.Pro763=) c.1855C= (p.Pro619=) | |
3 | g.119414276C>G | CA354050686 | ARHGAP31 | c.2347C>G (p.Pro783Ala) c.2254C>G (p.Pro752Ala) c.2287C>G (p.Pro763Ala) c.1855C>G (p.Pro619Ala) | |
3 | g.119414276C>T | CA354050689 | ARHGAP31 | c.2347C>T (p.Pro783Ser) c.2254C>T (p.Pro752Ser) c.2287C>T (p.Pro763Ser) c.1855C>T (p.Pro619Ser) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.119414277C>A | CA354050693 | ARHGAP31 | c.2348C>A (p.Pro783His) c.2255C>A (p.Pro752His) c.2288C>A (p.Pro763His) c.1856C>A (p.Pro619His) | |
3 | g.119414277C>G | CA354050697 | ARHGAP31 | c.2348C>G (p.Pro783Arg) c.2255C>G (p.Pro752Arg) c.2288C>G (p.Pro763Arg) c.1856C>G (p.Pro619Arg) | COSMIC |
3 | g.119414277C>T | CA354050701 | ARHGAP31 | c.2348C>T (p.Pro783Leu) c.2255C>T (p.Pro752Leu) c.2288C>T (p.Pro763Leu) c.1856C>T (p.Pro619Leu) | |
3 | g.119414278T>A | CA435411823 | ARHGAP31 | c.2349T>A (p.Pro783=) c.2256T>A (p.Pro752=) c.2289T>A (p.Pro763=) c.1857T>A (p.Pro619=) | |
3 | g.119414278T>C | CA435411824 | ARHGAP31 | c.2349T>C (p.Pro783=) c.2256T>C (p.Pro752=) c.2289T>C (p.Pro763=) c.1857T>C (p.Pro619=) | |
3 | g.119414278T>G | CA435411826 | ARHGAP31 | c.2349T>G (p.Pro783=) c.2256T>G (p.Pro752=) c.2289T>G (p.Pro763=) c.1857T>G (p.Pro619=) | gnomAD v4 |
3 | g.119414279G>A | CA354050712 | ARHGAP31 | c.2350G>A (p.Ala784Thr) c.2257G>A (p.Ala753Thr) c.2290G>A (p.Ala764Thr) c.1858G>A (p.Ala620Thr) | |
3 | g.119414279G>C | CA354050708 | ARHGAP31 | c.2350G>C (p.Ala784Pro) c.2257G>C (p.Ala753Pro) c.2290G>C (p.Ala764Pro) c.1858G>C (p.Ala620Pro) | |
3 | g.119414279G>T | CA354050705 | ARHGAP31 | c.2350G>T (p.Ala784Ser) c.2257G>T (p.Ala753Ser) c.2290G>T (p.Ala764Ser) c.1858G>T (p.Ala620Ser) | |
3 | g.119414280C>A | CA354050717 | ARHGAP31 | c.2351C>A (p.Ala784Asp) c.2258C>A (p.Ala753Asp) c.2291C>A (p.Ala764Asp) c.1859C>A (p.Ala620Asp) | |
3 | g.119414280C= | CA1396548631 | ARHGAP31 | c.2351C= (p.Ala784=) c.2258C= (p.Ala753=) c.2291C= (p.Ala764=) c.1859C= (p.Ala620=) | |
3 | g.119414280C>G | CA354050731 | ARHGAP31 | c.2351C>G (p.Ala784Gly) c.2258C>G (p.Ala753Gly) c.2291C>G (p.Ala764Gly) c.1859C>G (p.Ala620Gly) | |
3 | g.119414280C>T | CA81697573 | ARHGAP31 | c.2351C>T (p.Ala784Val) c.2258C>T (p.Ala753Val) c.2291C>T (p.Ala764Val) c.1859C>T (p.Ala620Val) | dbSNP gnomAD v4 |
3 | g.119414281T>A | CA435411830 | ARHGAP31 | c.2352T>A (p.Ala784=) c.2259T>A (p.Ala753=) c.2292T>A (p.Ala764=) c.1860T>A (p.Ala620=) | |
3 | g.119414281T>C | CA435411832 | ARHGAP31 | c.2352T>C (p.Ala784=) c.2259T>C (p.Ala753=) c.2292T>C (p.Ala764=) c.1860T>C (p.Ala620=) | |
3 | g.119414281T>G | CA435411831 | ARHGAP31 | c.2352T>G (p.Ala784=) c.2259T>G (p.Ala753=) c.2292T>G (p.Ala764=) c.1860T>G (p.Ala620=) | |
3 | g.119414282C>A | CA354050736 | ARHGAP31 | c.2353C>A (p.Pro785Thr) c.2260C>A (p.Pro754Thr) c.2293C>A (p.Pro765Thr) c.1861C>A (p.Pro621Thr) | gnomAD v4 |
3 | g.119414282C>G | CA354050739 | ARHGAP31 | c.2353C>G (p.Pro785Ala) c.2260C>G (p.Pro754Ala) c.2293C>G (p.Pro765Ala) c.1861C>G (p.Pro621Ala) | |
3 | g.119414282C>T | CA354050743 | ARHGAP31 | c.2353C>T (p.Pro785Ser) c.2260C>T (p.Pro754Ser) c.2293C>T (p.Pro765Ser) c.1861C>T (p.Pro621Ser) | |
3 | g.119414283C>A | CA354050748 | ARHGAP31 | c.2354C>A (p.Pro785His) c.2261C>A (p.Pro754His) c.2294C>A (p.Pro765His) c.1862C>A (p.Pro621His) | |
3 | g.119414283C>G | CA354050749 | ARHGAP31 | c.2354C>G (p.Pro785Arg) c.2261C>G (p.Pro754Arg) c.2294C>G (p.Pro765Arg) c.1862C>G (p.Pro621Arg) | |
3 | g.119414283C>T | CA354050751 | ARHGAP31 | c.2354C>T (p.Pro785Leu) c.2261C>T (p.Pro754Leu) c.2294C>T (p.Pro765Leu) c.1862C>T (p.Pro621Leu) | |
3 | g.119414284T>A | CA435411835 | ARHGAP31 | c.2355T>A (p.Pro785=) c.2262T>A (p.Pro754=) c.2295T>A (p.Pro765=) c.1863T>A (p.Pro621=) | |
3 | g.119414284T>C | CA435411836 | ARHGAP31 | c.2355T>C (p.Pro785=) c.2262T>C (p.Pro754=) c.2295T>C (p.Pro765=) c.1863T>C (p.Pro621=) | |
3 | g.119414284T>G | CA2554013 | ARHGAP31 | c.2355T>G (p.Pro785=) c.2262T>G (p.Pro754=) c.2295T>G (p.Pro765=) c.1863T>G (p.Pro621=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.119414284T= | CA1396548632 | ARHGAP31 | c.2355T= (p.Pro785=) c.2262T= (p.Pro754=) c.2295T= (p.Pro765=) c.1863T= (p.Pro621=) | |
3 | g.119414285C>A | CA354050760 | ARHGAP31 | c.2356C>A (p.Pro786Thr) c.2263C>A (p.Pro755Thr) c.2296C>A (p.Pro766Thr) c.1864C>A (p.Pro622Thr) | |
3 | g.119414285C= | CA1396548633 | ARHGAP31 | c.2356C= (p.Pro786=) c.2263C= (p.Pro755=) c.2296C= (p.Pro766=) c.1864C= (p.Pro622=) | |
3 | g.119414285C>G | CA354050764 | ARHGAP31 | c.2356C>G (p.Pro786Ala) c.2263C>G (p.Pro755Ala) c.2296C>G (p.Pro766Ala) c.1864C>G (p.Pro622Ala) | |
3 | g.119414285C>T | CA354050766 | ARHGAP31 | c.2356C>T (p.Pro786Ser) c.2263C>T (p.Pro755Ser) c.2296C>T (p.Pro766Ser) c.1864C>T (p.Pro622Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.119414286C>A | CA354050771 | ARHGAP31 | c.2357C>A (p.Pro786His) c.2264C>A (p.Pro755His) c.2297C>A (p.Pro766His) c.1865C>A (p.Pro622His) | gnomAD v4 |
3 | g.119414286C= | CA1396548634 | ARHGAP31 | c.2357C= (p.Pro786=) c.2264C= (p.Pro755=) c.2297C= (p.Pro766=) c.1865C= (p.Pro622=) | |
3 | g.119414286C>G | CA354050774 | ARHGAP31 | c.2357C>G (p.Pro786Arg) c.2264C>G (p.Pro755Arg) c.2297C>G (p.Pro766Arg) c.1865C>G (p.Pro622Arg) | |
3 | g.119414286C>T | CA354050776 | ARHGAP31 | c.2357C>T (p.Pro786Leu) c.2264C>T (p.Pro755Leu) c.2297C>T (p.Pro766Leu) c.1865C>T (p.Pro622Leu) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.119414287C>A | CA435411846 | ARHGAP31 | c.2358C>A (p.Pro786=) c.2265C>A (p.Pro755=) c.2298C>A (p.Pro766=) c.1866C>A (p.Pro622=) | |
3 | g.119414287C= | CA1396548635 | ARHGAP31 | c.2358C= (p.Pro786=) c.2265C= (p.Pro755=) c.2298C= (p.Pro766=) c.1866C= (p.Pro622=) | |
3 | g.119414287C>G | CA435411840 | ARHGAP31 | c.2358C>G (p.Pro786=) c.2265C>G (p.Pro755=) c.2298C>G (p.Pro766=) c.1866C>G (p.Pro622=) | gnomAD v4 |
3 | g.119414287C>T | CA435411843 | ARHGAP31 | c.2358C>T (p.Pro786=) c.2265C>T (p.Pro755=) c.2298C>T (p.Pro766=) c.1866C>T (p.Pro622=) | dbSNP |
3 | g.119414288C>A | CA354050781 | ARHGAP31 | c.2359C>A (p.Pro787Thr) c.2266C>A (p.Pro756Thr) c.2299C>A (p.Pro767Thr) c.1867C>A (p.Pro623Thr) | |
3 | g.119414288C= | CA1396548636 | ARHGAP31 | c.2359C= (p.Pro787=) c.2266C= (p.Pro756=) c.2299C= (p.Pro767=) c.1867C= (p.Pro623=) | |
3 | g.119414288C>G | CA2554014 | ARHGAP31 | c.2359C>G (p.Pro787Ala) c.2266C>G (p.Pro756Ala) c.2299C>G (p.Pro767Ala) c.1867C>G (p.Pro623Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119414288C>T | CA2554015 | ARHGAP31 | c.2359C>T (p.Pro787Ser) c.2266C>T (p.Pro756Ser) c.2299C>T (p.Pro767Ser) c.1867C>T (p.Pro623Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119414289C>A | CA354050788 | ARHGAP31 | c.2360C>A (p.Pro787His) c.2267C>A (p.Pro756His) c.2300C>A (p.Pro767His) c.1868C>A (p.Pro623His) | |
3 | g.119414289C= | CA1396548637 | ARHGAP31 | c.2360C= (p.Pro787=) c.2267C= (p.Pro756=) c.2300C= (p.Pro767=) c.1868C= (p.Pro623=) | |
3 | g.119414289C>G | CA2554016 | ARHGAP31 | c.2360C>G (p.Pro787Arg) c.2267C>G (p.Pro756Arg) c.2300C>G (p.Pro767Arg) c.1868C>G (p.Pro623Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.119414289C>T | CA354050794 | ARHGAP31 | c.2360C>T (p.Pro787Leu) c.2267C>T (p.Pro756Leu) c.2300C>T (p.Pro767Leu) c.1868C>T (p.Pro623Leu) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.119414290T>A | CA435411853 | ARHGAP31 | c.2361T>A (p.Pro787=) c.2268T>A (p.Pro756=) c.2301T>A (p.Pro767=) c.1869T>A (p.Pro623=) | |
3 | g.119414290T>C | CA435411854 | ARHGAP31 | c.2361T>C (p.Pro787=) c.2268T>C (p.Pro756=) c.2301T>C (p.Pro767=) c.1869T>C (p.Pro623=) | |
3 | g.119414290T>G | CA435411855 | ARHGAP31 | c.2361T>G (p.Pro787=) c.2268T>G (p.Pro756=) c.2301T>G (p.Pro767=) c.1869T>G (p.Pro623=) | |
3 | g.119414291C>A | CA354050798 | ARHGAP31 | c.2362C>A (p.Pro788Thr) c.2269C>A (p.Pro757Thr) c.2302C>A (p.Pro768Thr) c.1870C>A (p.Pro624Thr) | |
3 | g.119414291C>G | CA354050801 | ARHGAP31 | c.2362C>G (p.Pro788Ala) c.2269C>G (p.Pro757Ala) c.2302C>G (p.Pro768Ala) c.1870C>G (p.Pro624Ala) | |
3 | g.119414291C>T | CA354050804 | ARHGAP31 | c.2362C>T (p.Pro788Ser) c.2269C>T (p.Pro757Ser) c.2302C>T (p.Pro768Ser) c.1870C>T (p.Pro624Ser) | |
3 | g.119414292C>A | CA354050814 | ARHGAP31 | c.2363C>A (p.Pro788Gln) c.2270C>A (p.Pro757Gln) c.2303C>A (p.Pro768Gln) c.1871C>A (p.Pro624Gln) | |
3 | g.119414292C>G | CA354050816 | ARHGAP31 | c.2363C>G (p.Pro788Arg) c.2270C>G (p.Pro757Arg) c.2303C>G (p.Pro768Arg) c.1871C>G (p.Pro624Arg) | |
3 | g.119414292C>T | CA354050819 | ARHGAP31 | c.2363C>T (p.Pro788Leu) c.2270C>T (p.Pro757Leu) c.2303C>T (p.Pro768Leu) c.1871C>T (p.Pro624Leu) | |
3 | g.119414293A= | CA1396548638 | ARHGAP31 | c.2364A= (p.Pro788=) c.2271A= (p.Pro757=) c.2304A= (p.Pro768=) c.1872A= (p.Pro624=) | |
3 | g.119414293A>C | CA435411862 | ARHGAP31 | c.2364A>C (p.Pro788=) c.2271A>C (p.Pro757=) c.2304A>C (p.Pro768=) c.1872A>C (p.Pro624=) | |
3 | g.119414293A>G | CA435411861 | ARHGAP31 | c.2364A>G (p.Pro788=) c.2271A>G (p.Pro757=) c.2304A>G (p.Pro768=) c.1872A>G (p.Pro624=) | |
3 | g.119414293A>T | CA2554017 | ARHGAP31 | c.2364A>T (p.Pro788=) c.2271A>T (p.Pro757=) c.2304A>T (p.Pro768=) c.1872A>T (p.Pro624=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119414294A= | CA1396548639 | ARHGAP31 | c.2365A= (p.Thr789=) c.2272A= (p.Thr758=) c.2305A= (p.Thr769=) c.1873A= (p.Thr625=) | |
3 | g.119414294A>C | CA2554018 | ARHGAP31 | c.2365A>C (p.Thr789Pro) c.2272A>C (p.Thr758Pro) c.2305A>C (p.Thr769Pro) c.1873A>C (p.Thr625Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119414294A>G | CA2554019 | ARHGAP31 | c.2365A>G (p.Thr789Ala) c.2272A>G (p.Thr758Ala) c.2305A>G (p.Thr769Ala) c.1873A>G (p.Thr625Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.119414294A>T | CA354050828 | ARHGAP31 | c.2365A>T (p.Thr789Ser) c.2272A>T (p.Thr758Ser) c.2305A>T (p.Thr769Ser) c.1873A>T (p.Thr625Ser) | |
3 | g.119414295C>A | CA354050839 | ARHGAP31 | c.2366C>A (p.Thr789Asn) c.2273C>A (p.Thr758Asn) c.2306C>A (p.Thr769Asn) c.1874C>A (p.Thr625Asn) | |
3 | g.119414295C>G | CA354050846 | ARHGAP31 | c.2366C>G (p.Thr789Ser) c.2273C>G (p.Thr758Ser) c.2306C>G (p.Thr769Ser) c.1874C>G (p.Thr625Ser) | gnomAD v4 |
3 | g.119414295C>T | CA354050849 | ARHGAP31 | c.2366C>T (p.Thr789Ile) c.2273C>T (p.Thr758Ile) c.2306C>T (p.Thr769Ile) c.1874C>T (p.Thr625Ile) | gnomAD v4 |
3 | g.119414296T>A | CA435411867 | ARHGAP31 | c.2367T>A (p.Thr789=) c.2274T>A (p.Thr758=) c.2307T>A (p.Thr769=) c.1875T>A (p.Thr625=) | |
3 | g.119414296T>C | CA2554020 | ARHGAP31 | c.2367T>C (p.Thr789=) c.2274T>C (p.Thr758=) c.2307T>C (p.Thr769=) c.1875T>C (p.Thr625=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.119414296T>G | CA435411868 | ARHGAP31 | c.2367T>G (p.Thr789=) c.2274T>G (p.Thr758=) c.2307T>G (p.Thr769=) c.1875T>G (p.Thr625=) | |
3 | g.119414296T= | CA1396548640 | ARHGAP31 | c.2367T= (p.Thr789=) c.2274T= (p.Thr758=) c.2307T= (p.Thr769=) c.1875T= (p.Thr625=) | |
3 | g.119414297C>A | CA354050855 | ARHGAP31 | c.2368C>A (p.Pro790Thr) c.2275C>A (p.Pro759Thr) c.2308C>A (p.Pro770Thr) c.1876C>A (p.Pro626Thr) | |
3 | g.119414297C>G | CA354050859 | ARHGAP31 | c.2368C>G (p.Pro790Ala) c.2275C>G (p.Pro759Ala) c.2308C>G (p.Pro770Ala) c.1876C>G (p.Pro626Ala) | |
3 | g.119414297C>T | CA354050862 | ARHGAP31 | c.2368C>T (p.Pro790Ser) c.2275C>T (p.Pro759Ser) c.2308C>T (p.Pro770Ser) c.1876C>T (p.Pro626Ser) | |
3 | g.119414298C>A | CA354050868 | ARHGAP31 | c.2369C>A (p.Pro790His) c.2276C>A (p.Pro759His) c.2309C>A (p.Pro770His) c.1877C>A (p.Pro626His) | |
3 | g.119414298C= | CA1396548641 | ARHGAP31 | c.2369C= (p.Pro790=) c.2276C= (p.Pro759=) c.2309C= (p.Pro770=) c.1877C= (p.Pro626=) | |
3 | g.119414298C>G | CA354050870 | ARHGAP31 | c.2369C>G (p.Pro790Arg) c.2276C>G (p.Pro759Arg) c.2309C>G (p.Pro770Arg) c.1877C>G (p.Pro626Arg) | dbSNP gnomAD v4 |
3 | g.119414298C>T | CA354050874 | ARHGAP31 | c.2369C>T (p.Pro790Leu) c.2276C>T (p.Pro759Leu) c.2309C>T (p.Pro770Leu) c.1877C>T (p.Pro626Leu) | gnomAD v4 |
3 | g.119414299T>A | CA435411873 | ARHGAP31 | c.2370T>A (p.Pro790=) c.2277T>A (p.Pro759=) c.2310T>A (p.Pro770=) c.1878T>A (p.Pro626=) | |
3 | g.119414299T>C | CA435411874 | ARHGAP31 | c.2370T>C (p.Pro790=) c.2277T>C (p.Pro759=) c.2310T>C (p.Pro770=) c.1878T>C (p.Pro626=) | |
3 | g.119414299T>G | CA435411877 | ARHGAP31 | c.2370T>G (p.Pro790=) c.2277T>G (p.Pro759=) c.2310T>G (p.Pro770=) c.1878T>G (p.Pro626=) | |
3 | g.119414300C>A | CA354050876 | ARHGAP31 | c.2371C>A (p.Leu791Met) c.2278C>A (p.Leu760Met) c.2311C>A (p.Leu771Met) c.1879C>A (p.Leu627Met) | |
3 | g.119414300C>G | CA354050878 | ARHGAP31 | c.2371C>G (p.Leu791Val) c.2278C>G (p.Leu760Val) c.2311C>G (p.Leu771Val) c.1879C>G (p.Leu627Val) | |
3 | g.119414300C>T | CA435411906 | ARHGAP31 | c.2371C>T (p.Leu791=) c.2278C>T (p.Leu760=) c.2311C>T (p.Leu771=) c.1879C>T (p.Leu627=) | |
3 | g.119414301T>A | CA354050892 | ARHGAP31 | c.2372T>A (p.Leu791Gln) c.2279T>A (p.Leu760Gln) c.2312T>A (p.Leu771Gln) c.1880T>A (p.Leu627Gln) | |
3 | g.119414301T>C | CA354050893 | ARHGAP31 | c.2372T>C (p.Leu791Pro) c.2279T>C (p.Leu760Pro) c.2312T>C (p.Leu771Pro) c.1880T>C (p.Leu627Pro) | gnomAD v4 |
3 | g.119414301T>G | CA354050891 | ARHGAP31 | c.2372T>G (p.Leu791Arg) c.2279T>G (p.Leu760Arg) c.2312T>G (p.Leu771Arg) c.1880T>G (p.Leu627Arg) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.119414301T= | CA1396548642 | ARHGAP31 | c.2372T= (p.Leu791=) c.2279T= (p.Leu760=) c.2312T= (p.Leu771=) c.1880T= (p.Leu627=) | |
3 | g.119414302G>A | CA435411910 | ARHGAP31 | c.2373G>A (p.Leu791=) c.2280G>A (p.Leu760=) c.2313G>A (p.Leu771=) c.1881G>A (p.Leu627=) | |
3 | g.119414302G>C | CA435411912 | ARHGAP31 | c.2373G>C (p.Leu791=) c.2280G>C (p.Leu760=) c.2313G>C (p.Leu771=) c.1881G>C (p.Leu627=) | |
3 | g.119414302G>T | CA435411913 | ARHGAP31 | c.2373G>T (p.Leu791=) c.2280G>T (p.Leu760=) c.2313G>T (p.Leu771=) c.1881G>T (p.Leu627=) | |
3 | g.119414303G>A | CA2554021 | ARHGAP31 | c.2374G>A (p.Glu792Lys) c.2281G>A (p.Glu761Lys) c.2314G>A (p.Glu772Lys) c.1882G>A (p.Glu628Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.119414303G>C | CA354050899 | ARHGAP31 | c.2374G>C (p.Glu792Gln) c.2281G>C (p.Glu761Gln) c.2314G>C (p.Glu772Gln) c.1882G>C (p.Glu628Gln) | |
3 | g.119414303G= | CA1396548643 | ARHGAP31 | c.2374G= (p.Glu792=) c.2281G= (p.Glu761=) c.2314G= (p.Glu772=) c.1882G= (p.Glu628=) | |
3 | g.119414303G>T | CA354050901 | ARHGAP31 | c.2374G>T (p.Glu792Ter) c.2281G>T (p.Glu761Ter) c.2314G>T (p.Glu772Ter) c.1882G>T (p.Glu628Ter) | |
3 | g.119414304A>C | CA354050904 | ARHGAP31 | c.2375A>C (p.Glu792Ala) c.2282A>C (p.Glu761Ala) c.2315A>C (p.Glu772Ala) c.1883A>C (p.Glu628Ala) | |
3 | g.119414304A>G | CA354050906 | ARHGAP31 | c.2375A>G (p.Glu792Gly) c.2282A>G (p.Glu761Gly) c.2315A>G (p.Glu772Gly) c.1883A>G (p.Glu628Gly) | |
3 | g.119414304A>T | CA354050908 | ARHGAP31 | c.2375A>T (p.Glu792Val) c.2282A>T (p.Glu761Val) c.2315A>T (p.Glu772Val) c.1883A>T (p.Glu628Val) | |
3 | g.119414305G>A | CA435411918 | ARHGAP31 | c.2376G>A (p.Glu792=) c.2283G>A (p.Glu761=) c.2316G>A (p.Glu772=) c.1884G>A (p.Glu628=) | |
3 | g.119414305G>C | CA354050911 | ARHGAP31 | c.2376G>C (p.Glu792Asp) c.2283G>C (p.Glu761Asp) c.2316G>C (p.Glu772Asp) c.1884G>C (p.Glu628Asp) | |
3 | g.119414305G>T | CA354050913 | ARHGAP31 | c.2376G>T (p.Glu792Asp) c.2283G>T (p.Glu761Asp) c.2316G>T (p.Glu772Asp) c.1884G>T (p.Glu628Asp) |