| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38894936A= | CA1358718302 | SCN11A | c.2432T= (p.Leu811=) c.2252T= (p.Leu751=) c.2476T= (n.2476T=) c.2051T= (p.Leu684=) c.1769T= (p.Leu590=) c.980T= (p.Leu327=) c.2807T= (p.Leu936=) c.2234T= (p.Leu745=) c.2159T= (p.Leu720=) c.836T= (p.Leu279=) | |
| 3 | g.38894936A>C | CA352175161 | SCN11A | c.2432T>G (p.Leu811Arg) c.2252T>G (p.Leu751Arg) c.2476T>G (n.2476T>G) c.2051T>G (p.Leu684Arg) c.1769T>G (p.Leu590Arg) c.980T>G (p.Leu327Arg) c.2807T>G (p.Leu936Arg) c.2234T>G (p.Leu745Arg) c.2159T>G (p.Leu720Arg) c.836T>G (p.Leu279Arg) | |
| 3 | g.38894936A>G | CA145432 | SCN11A | c.2432T>C (p.Leu811Pro) c.2252T>C (p.Leu751Pro) c.2476T>C (n.2476T>C) c.2051T>C (p.Leu684Pro) c.1769T>C (p.Leu590Pro) c.980T>C (p.Leu327Pro) c.2807T>C (p.Leu936Pro) c.2234T>C (p.Leu745Pro) c.2159T>C (p.Leu720Pro) c.836T>C (p.Leu279Pro) | ClinVar dbSNP |
| 3 | g.38894936A>T | CA352175162 | SCN11A | c.2432T>A (p.Leu811His) c.2252T>A (p.Leu751His) c.2476T>A (n.2476T>A) c.2051T>A (p.Leu684His) c.1769T>A (p.Leu590His) c.980T>A (p.Leu327His) c.2807T>A (p.Leu936His) c.2234T>A (p.Leu745His) c.2159T>A (p.Leu720His) c.836T>A (p.Leu279His) | |
| 3 | g.38894937G>A | CA352175163 | SCN11A | c.2431C>T (p.Leu811Phe) c.2251C>T (p.Leu751Phe) c.2475C>T (n.2475C>T) c.2050C>T (p.Leu684Phe) c.1768C>T (p.Leu590Phe) c.979C>T (p.Leu327Phe) c.2806C>T (p.Leu936Phe) c.2233C>T (p.Leu745Phe) c.2158C>T (p.Leu720Phe) c.835C>T (p.Leu279Phe) | |
| 3 | g.38894937G>C | CA352175164 | SCN11A | c.2431C>G (p.Leu811Val) c.2251C>G (p.Leu751Val) c.2475C>G (n.2475C>G) c.2050C>G (p.Leu684Val) c.1768C>G (p.Leu590Val) c.979C>G (p.Leu327Val) c.2806C>G (p.Leu936Val) c.2233C>G (p.Leu745Val) c.2158C>G (p.Leu720Val) c.835C>G (p.Leu279Val) | |
| 3 | g.38894937G>T | CA352175165 | SCN11A | c.2431C>A (p.Leu811Ile) c.2251C>A (p.Leu751Ile) c.2475C>A (n.2475C>A) c.2050C>A (p.Leu684Ile) c.1768C>A (p.Leu590Ile) c.979C>A (p.Leu327Ile) c.2806C>A (p.Leu936Ile) c.2233C>A (p.Leu745Ile) c.2158C>A (p.Leu720Ile) c.835C>A (p.Leu279Ile) | |
| 3 | g.38894938C>A | CA433336238 | SCN11A | c.2430G>T (p.Leu810=) c.2250G>T (p.Leu750=) c.2474G>T (n.2474G>T) c.2049G>T (p.Leu683=) c.1767G>T (p.Leu589=) c.978G>T (p.Leu326=) c.2805G>T (p.Leu935=) c.2232G>T (p.Leu744=) c.2157G>T (p.Leu719=) c.834G>T (p.Leu278=) | |
| 3 | g.38894938C>G | CA433336236 | SCN11A | c.2430G>C (p.Leu810=) c.2250G>C (p.Leu750=) c.2474G>C (n.2474G>C) c.2049G>C (p.Leu683=) c.1767G>C (p.Leu589=) c.978G>C (p.Leu326=) c.2805G>C (p.Leu935=) c.2232G>C (p.Leu744=) c.2157G>C (p.Leu719=) c.834G>C (p.Leu278=) | |
| 3 | g.38894938C>T | CA433336237 | SCN11A | c.2430G>A (p.Leu810=) c.2250G>A (p.Leu750=) c.2474G>A (n.2474G>A) c.2049G>A (p.Leu683=) c.1767G>A (p.Leu589=) c.978G>A (p.Leu326=) c.2805G>A (p.Leu935=) c.2232G>A (p.Leu744=) c.2157G>A (p.Leu719=) c.834G>A (p.Leu278=) | |
| 3 | g.38894939A>C | CA352175166 | SCN11A | c.2429T>G (p.Leu810Arg) c.2249T>G (p.Leu750Arg) c.2473T>G (n.2473T>G) c.2048T>G (p.Leu683Arg) c.1766T>G (p.Leu589Arg) c.977T>G (p.Leu326Arg) c.2804T>G (p.Leu935Arg) c.2231T>G (p.Leu744Arg) c.2156T>G (p.Leu719Arg) c.833T>G (p.Leu278Arg) | |
| 3 | g.38894939A>G | CA352175168 | SCN11A | c.2429T>C (p.Leu810Pro) c.2249T>C (p.Leu750Pro) c.2473T>C (n.2473T>C) c.2048T>C (p.Leu683Pro) c.1766T>C (p.Leu589Pro) c.977T>C (p.Leu326Pro) c.2804T>C (p.Leu935Pro) c.2231T>C (p.Leu744Pro) c.2156T>C (p.Leu719Pro) c.833T>C (p.Leu278Pro) | |
| 3 | g.38894939A>T | CA352175167 | SCN11A | c.2429T>A (p.Leu810Gln) c.2249T>A (p.Leu750Gln) c.2473T>A (n.2473T>A) c.2048T>A (p.Leu683Gln) c.1766T>A (p.Leu589Gln) c.977T>A (p.Leu326Gln) c.2804T>A (p.Leu935Gln) c.2231T>A (p.Leu744Gln) c.2156T>A (p.Leu719Gln) c.833T>A (p.Leu278Gln) | gnomAD v4 |
| 3 | g.38894940G>A | CA433336239 | SCN11A | c.2428C>T (p.Leu810=) c.2248C>T (p.Leu750=) c.2472C>T (n.2472C>T) c.2047C>T (p.Leu683=) c.1765C>T (p.Leu589=) c.976C>T (p.Leu326=) c.2803C>T (p.Leu935=) c.2230C>T (p.Leu744=) c.2155C>T (p.Leu719=) c.832C>T (p.Leu278=) | |
| 3 | g.38894940G>C | CA352175169 | SCN11A | c.2428C>G (p.Leu810Val) c.2248C>G (p.Leu750Val) c.2472C>G (n.2472C>G) c.2047C>G (p.Leu683Val) c.1765C>G (p.Leu589Val) c.976C>G (p.Leu326Val) c.2803C>G (p.Leu935Val) c.2230C>G (p.Leu744Val) c.2155C>G (p.Leu719Val) c.832C>G (p.Leu278Val) | |
| 3 | g.38894940G>T | CA352175170 | SCN11A | c.2428C>A (p.Leu810Met) c.2248C>A (p.Leu750Met) c.2472C>A (n.2472C>A) c.2047C>A (p.Leu683Met) c.1765C>A (p.Leu589Met) c.976C>A (p.Leu326Met) c.2803C>A (p.Leu935Met) c.2230C>A (p.Leu744Met) c.2155C>A (p.Leu719Met) c.832C>A (p.Leu278Met) | |
| 3 | g.38894941T>A | CA352175171 | SCN11A | c.2427A>T (p.Leu809Phe) c.2247A>T (p.Leu749Phe) c.2471A>T (n.2471A>T) c.2046A>T (p.Leu682Phe) c.1764A>T (p.Leu588Phe) c.975A>T (p.Leu325Phe) c.2802A>T (p.Leu934Phe) c.2229A>T (p.Leu743Phe) c.2154A>T (p.Leu718Phe) c.831A>T (p.Leu277Phe) | |
| 3 | g.38894941T>C | CA433336240 | SCN11A | c.2427A>G (p.Leu809=) c.2247A>G (p.Leu749=) c.2471A>G (n.2471A>G) c.2046A>G (p.Leu682=) c.1764A>G (p.Leu588=) c.975A>G (p.Leu325=) c.2802A>G (p.Leu934=) c.2229A>G (p.Leu743=) c.2154A>G (p.Leu718=) c.831A>G (p.Leu277=) | |
| 3 | g.38894941T>G | CA352175172 | SCN11A | c.2427A>C (p.Leu809Phe) c.2247A>C (p.Leu749Phe) c.2471A>C (n.2471A>C) c.2046A>C (p.Leu682Phe) c.1764A>C (p.Leu588Phe) c.975A>C (p.Leu325Phe) c.2802A>C (p.Leu934Phe) c.2229A>C (p.Leu743Phe) c.2154A>C (p.Leu718Phe) c.831A>C (p.Leu277Phe) | |
| 3 | g.38894942A>C | CA352175173 | SCN11A | c.2426T>G (p.Leu809Ter) c.2246T>G (p.Leu749Ter) c.2470T>G (n.2470T>G) c.2045T>G (p.Leu682Ter) c.1763T>G (p.Leu588Ter) c.974T>G (p.Leu325Ter) c.2801T>G (p.Leu934Ter) c.2228T>G (p.Leu743Ter) c.2153T>G (p.Leu718Ter) c.830T>G (p.Leu277Ter) | |
| 3 | g.38894942A>G | CA352175174 | SCN11A | c.2426T>C (p.Leu809Ser) c.2246T>C (p.Leu749Ser) c.2470T>C (n.2470T>C) c.2045T>C (p.Leu682Ser) c.1763T>C (p.Leu588Ser) c.974T>C (p.Leu325Ser) c.2801T>C (p.Leu934Ser) c.2228T>C (p.Leu743Ser) c.2153T>C (p.Leu718Ser) c.830T>C (p.Leu277Ser) | |
| 3 | g.38894942A>T | CA352175175 | SCN11A | c.2426T>A (p.Leu809Ter) c.2246T>A (p.Leu749Ter) c.2470T>A (n.2470T>A) c.2045T>A (p.Leu682Ter) c.1763T>A (p.Leu588Ter) c.974T>A (p.Leu325Ter) c.2801T>A (p.Leu934Ter) c.2228T>A (p.Leu743Ter) c.2153T>A (p.Leu718Ter) c.830T>A (p.Leu277Ter) | |
| 3 | g.38894943A= | CA1358718303 | SCN11A | c.2425T= (p.Leu809=) c.2245T= (p.Leu749=) c.2469T= (n.2469T=) c.2044T= (p.Leu682=) c.1762T= (p.Leu588=) c.973T= (p.Leu325=) c.2800T= (p.Leu934=) c.2227T= (p.Leu743=) c.2152T= (p.Leu718=) c.829T= (p.Leu277=) | |
| 3 | g.38894943A>C | CA72997896 | SCN11A | c.2425T>G (p.Leu809Val) c.2245T>G (p.Leu749Val) c.2469T>G (n.2469T>G) c.2044T>G (p.Leu682Val) c.1762T>G (p.Leu588Val) c.973T>G (p.Leu325Val) c.2800T>G (p.Leu934Val) c.2227T>G (p.Leu743Val) c.2152T>G (p.Leu718Val) c.829T>G (p.Leu277Val) | dbSNP |
| 3 | g.38894943A>G | CA433336241 | SCN11A | c.2425T>C (p.Leu809=) c.2245T>C (p.Leu749=) c.2469T>C (n.2469T>C) c.2044T>C (p.Leu682=) c.1762T>C (p.Leu588=) c.973T>C (p.Leu325=) c.2800T>C (p.Leu934=) c.2227T>C (p.Leu743=) c.2152T>C (p.Leu718=) c.829T>C (p.Leu277=) | |
| 3 | g.38894943A>T | CA352175176 | SCN11A | c.2425T>A (p.Leu809Ile) c.2245T>A (p.Leu749Ile) c.2469T>A (n.2469T>A) c.2044T>A (p.Leu682Ile) c.1762T>A (p.Leu588Ile) c.973T>A (p.Leu325Ile) c.2800T>A (p.Leu934Ile) c.2227T>A (p.Leu743Ile) c.2152T>A (p.Leu718Ile) c.829T>A (p.Leu277Ile) | |
| 3 | g.38894944G>A | CA433336244 | SCN11A | c.2424C>T (p.Ala808=) c.2244C>T (p.Ala748=) c.2468C>T (n.2468C>T) c.2043C>T (p.Ala681=) c.1761C>T (p.Ala587=) c.972C>T (p.Ala324=) c.2799C>T (p.Ala933=) c.2226C>T (p.Ala742=) c.2151C>T (p.Ala717=) c.828C>T (p.Ala276=) | |
| 3 | g.38894944G>C | CA433336242 | SCN11A | c.2424C>G (p.Ala808=) c.2244C>G (p.Ala748=) c.2468C>G (n.2468C>G) c.2043C>G (p.Ala681=) c.1761C>G (p.Ala587=) c.972C>G (p.Ala324=) c.2799C>G (p.Ala933=) c.2226C>G (p.Ala742=) c.2151C>G (p.Ala717=) c.828C>G (p.Ala276=) | |
| 3 | g.38894944G>T | CA433336243 | SCN11A | c.2424C>A (p.Ala808=) c.2244C>A (p.Ala748=) c.2468C>A (n.2468C>A) c.2043C>A (p.Ala681=) c.1761C>A (p.Ala587=) c.972C>A (p.Ala324=) c.2799C>A (p.Ala933=) c.2226C>A (p.Ala742=) c.2151C>A (p.Ala717=) c.828C>A (p.Ala276=) | |
| 3 | g.38894945G>A | CA352175177 | SCN11A | c.2423C>T (p.Ala808Val) c.2243C>T (p.Ala748Val) c.2467C>T (n.2467C>T) c.2042C>T (p.Ala681Val) c.1760C>T (p.Ala587Val) c.971C>T (p.Ala324Val) c.2798C>T (p.Ala933Val) c.2225C>T (p.Ala742Val) c.2150C>T (p.Ala717Val) c.827C>T (p.Ala276Val) | gnomAD v4 |
| 3 | g.38894945G>C | CA145435 | SCN11A | c.2423C>G (p.Ala808Gly) c.2243C>G (p.Ala748Gly) c.2467C>G (n.2467C>G) c.2042C>G (p.Ala681Gly) c.1760C>G (p.Ala587Gly) c.971C>G (p.Ala324Gly) c.2798C>G (p.Ala933Gly) c.2225C>G (p.Ala742Gly) c.2150C>G (p.Ala717Gly) c.827C>G (p.Ala276Gly) | ClinVar dbSNP |
| 3 | g.38894945G= | CA1358718304 | SCN11A | c.2423C= (p.Ala808=) c.2243C= (p.Ala748=) c.2467C= (n.2467C=) c.2042C= (p.Ala681=) c.1760C= (p.Ala587=) c.971C= (p.Ala324=) c.2798C= (p.Ala933=) c.2225C= (p.Ala742=) c.2150C= (p.Ala717=) c.827C= (p.Ala276=) | |
| 3 | g.38894945G>T | CA352175178 | SCN11A | c.2423C>A (p.Ala808Asp) c.2243C>A (p.Ala748Asp) c.2467C>A (n.2467C>A) c.2042C>A (p.Ala681Asp) c.1760C>A (p.Ala587Asp) c.971C>A (p.Ala324Asp) c.2798C>A (p.Ala933Asp) c.2225C>A (p.Ala742Asp) c.2150C>A (p.Ala717Asp) c.827C>A (p.Ala276Asp) | ClinVar dbSNP |
| 3 | g.38894946C>A | CA352175181 | SCN11A | c.2422G>T (p.Ala808Ser) c.2242G>T (p.Ala748Ser) c.2466G>T (n.2466G>T) c.2041G>T (p.Ala681Ser) c.1759G>T (p.Ala587Ser) c.970G>T (p.Ala324Ser) c.2797G>T (p.Ala933Ser) c.2224G>T (p.Ala742Ser) c.2149G>T (p.Ala717Ser) c.826G>T (p.Ala276Ser) | gnomAD v4 |
| 3 | g.38894946C>G | CA352175179 | SCN11A | c.2422G>C (p.Ala808Pro) c.2242G>C (p.Ala748Pro) c.2466G>C (n.2466G>C) c.2041G>C (p.Ala681Pro) c.1759G>C (p.Ala587Pro) c.970G>C (p.Ala324Pro) c.2797G>C (p.Ala933Pro) c.2224G>C (p.Ala742Pro) c.2149G>C (p.Ala717Pro) c.826G>C (p.Ala276Pro) | |
| 3 | g.38894946C>T | CA352175180 | SCN11A | c.2422G>A (p.Ala808Thr) c.2242G>A (p.Ala748Thr) c.2466G>A (n.2466G>A) c.2041G>A (p.Ala681Thr) c.1759G>A (p.Ala587Thr) c.970G>A (p.Ala324Thr) c.2797G>A (p.Ala933Thr) c.2224G>A (p.Ala742Thr) c.2149G>A (p.Ala717Thr) c.826G>A (p.Ala276Thr) | |
| 3 | g.38894947A>C | CA352175182 | SCN11A | c.2421T>G (p.Ile807Met) c.2241T>G (p.Ile747Met) c.2465T>G (n.2465T>G) c.2040T>G (p.Ile680Met) c.1758T>G (p.Ile586Met) c.969T>G (p.Ile323Met) c.2796T>G (p.Ile932Met) c.2223T>G (p.Ile741Met) c.2148T>G (p.Ile716Met) c.825T>G (p.Ile275Met) | |
| 3 | g.38894947A>G | CA433336245 | SCN11A | c.2421T>C (p.Ile807=) c.2241T>C (p.Ile747=) c.2465T>C (n.2465T>C) c.2040T>C (p.Ile680=) c.1758T>C (p.Ile586=) c.969T>C (p.Ile323=) c.2796T>C (p.Ile932=) c.2223T>C (p.Ile741=) c.2148T>C (p.Ile716=) c.825T>C (p.Ile275=) | |
| 3 | g.38894947A>T | CA433336246 | SCN11A | c.2421T>A (p.Ile807=) c.2241T>A (p.Ile747=) c.2465T>A (n.2465T>A) c.2040T>A (p.Ile680=) c.1758T>A (p.Ile586=) c.969T>A (p.Ile323=) c.2796T>A (p.Ile932=) c.2223T>A (p.Ile741=) c.2148T>A (p.Ile716=) c.825T>A (p.Ile275=) | gnomAD v4 |
| 3 | g.38894948A>C | CA352175183 | SCN11A | c.2420T>G (p.Ile807Ser) c.2240T>G (p.Ile747Ser) c.2464T>G (n.2464T>G) c.2039T>G (p.Ile680Ser) c.1757T>G (p.Ile586Ser) c.968T>G (p.Ile323Ser) c.2795T>G (p.Ile932Ser) c.2222T>G (p.Ile741Ser) c.2147T>G (p.Ile716Ser) c.824T>G (p.Ile275Ser) | |
| 3 | g.38894948A>G | CA352175184 | SCN11A | c.2420T>C (p.Ile807Thr) c.2240T>C (p.Ile747Thr) c.2464T>C (n.2464T>C) c.2039T>C (p.Ile680Thr) c.1757T>C (p.Ile586Thr) c.968T>C (p.Ile323Thr) c.2795T>C (p.Ile932Thr) c.2222T>C (p.Ile741Thr) c.2147T>C (p.Ile716Thr) c.824T>C (p.Ile275Thr) | |
| 3 | g.38894948A>T | CA352175185 | SCN11A | c.2420T>A (p.Ile807Asn) c.2240T>A (p.Ile747Asn) c.2464T>A (n.2464T>A) c.2039T>A (p.Ile680Asn) c.1757T>A (p.Ile586Asn) c.968T>A (p.Ile323Asn) c.2795T>A (p.Ile932Asn) c.2222T>A (p.Ile741Asn) c.2147T>A (p.Ile716Asn) c.824T>A (p.Ile275Asn) | |
| 3 | g.38894949T>A | CA352175186 | SCN11A | c.2419A>T (p.Ile807Phe) c.2239A>T (p.Ile747Phe) c.2463A>T (n.2463A>T) c.2038A>T (p.Ile680Phe) c.1756A>T (p.Ile586Phe) c.967A>T (p.Ile323Phe) c.2794A>T (p.Ile932Phe) c.2221A>T (p.Ile741Phe) c.2146A>T (p.Ile716Phe) c.823A>T (p.Ile275Phe) | |
| 3 | g.38894949T>C | CA72997931 | SCN11A | c.2419A>G (p.Ile807Val) c.2239A>G (p.Ile747Val) c.2463A>G (n.2463A>G) c.2038A>G (p.Ile680Val) c.1756A>G (p.Ile586Val) c.967A>G (p.Ile323Val) c.2794A>G (p.Ile932Val) c.2221A>G (p.Ile741Val) c.2146A>G (p.Ile716Val) c.823A>G (p.Ile275Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38894949T>G | CA352175187 | SCN11A | c.2419A>C (p.Ile807Leu) c.2239A>C (p.Ile747Leu) c.2463A>C (n.2463A>C) c.2038A>C (p.Ile680Leu) c.1756A>C (p.Ile586Leu) c.967A>C (p.Ile323Leu) c.2794A>C (p.Ile932Leu) c.2221A>C (p.Ile741Leu) c.2146A>C (p.Ile716Leu) c.823A>C (p.Ile275Leu) | |
| 3 | g.38894949T= | CA1358718306 | SCN11A | c.2419A= (p.Ile807=) c.2239A= (p.Ile747=) c.2463A= (n.2463A=) c.2038A= (p.Ile680=) c.1756A= (p.Ile586=) c.967A= (p.Ile323=) c.2794A= (p.Ile932=) c.2221A= (p.Ile741=) c.2146A= (p.Ile716=) c.823A= (p.Ile275=) | |
| 3 | g.38894949_38894952delinsTGAA | CA1358718305 | SCN11A | c.2416_2419delinsTTCA (p.Phe806=) c.2236_2239delinsTTCA (p.Phe746=) c.2460_2463delinsTTCA (n.2460_2463delinsTTCA) c.2035_2038delinsTTCA (p.Phe679=) c.1753_1756delinsTTCA (p.Phe585=) c.964_967delinsTTCA (p.Phe322=) c.2791_2794delinsTTCA (p.Phe931=) c.2218_2221delinsTTCA (p.Phe740=) c.2143_2146delinsTTCA (p.Phe715=) c.820_823delinsTTCA (p.Phe274=) | |
| 3 | g.38894950G>A | CA433336247 | SCN11A | c.2418C>T (p.Phe806=) c.2238C>T (p.Phe746=) c.2462C>T (n.2462C>T) c.2037C>T (p.Phe679=) c.1755C>T (p.Phe585=) c.966C>T (p.Phe322=) c.2793C>T (p.Phe931=) c.2220C>T (p.Phe740=) c.2145C>T (p.Phe715=) c.822C>T (p.Phe274=) | |
| 3 | g.38894950G>C | CA352175188 | SCN11A | c.2418C>G (p.Phe806Leu) c.2238C>G (p.Phe746Leu) c.2462C>G (n.2462C>G) c.2037C>G (p.Phe679Leu) c.1755C>G (p.Phe585Leu) c.966C>G (p.Phe322Leu) c.2793C>G (p.Phe931Leu) c.2220C>G (p.Phe740Leu) c.2145C>G (p.Phe715Leu) c.822C>G (p.Phe274Leu) | |
| 3 | g.38894950G>T | CA352175189 | SCN11A | c.2418C>A (p.Phe806Leu) c.2238C>A (p.Phe746Leu) c.2462C>A (n.2462C>A) c.2037C>A (p.Phe679Leu) c.1755C>A (p.Phe585Leu) c.966C>A (p.Phe322Leu) c.2793C>A (p.Phe931Leu) c.2220C>A (p.Phe740Leu) c.2145C>A (p.Phe715Leu) c.822C>A (p.Phe274Leu) |