| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.166280408T>A | CA349079532 | SCN1A-AS1,SCN9A | c.2292A>T (p.Glu764Asp) c.2259A>T (p.Glu753Asp) c.1294A>T n.1029+3161T>A c.1905A>T (p.Glu635Asp) c.1548A>T (p.Glu516Asp) n.2606A>T | |
| 2 | g.166280408T>C | CA429902205 | SCN1A-AS1,SCN9A | c.2292A>G (p.Glu764=) c.2259A>G (p.Glu753=) c.1294A>G n.1029+3161T>C c.1905A>G (p.Glu635=) c.1548A>G (p.Glu516=) n.2606A>G | gnomAD v4 |
| 2 | g.166280408T>G | CA349079531 | SCN1A-AS1,SCN9A | c.2292A>C (p.Glu764Asp) c.2259A>C (p.Glu753Asp) c.1294A>C n.1029+3161T>G c.1905A>C (p.Glu635Asp) c.1548A>C (p.Glu516Asp) n.2606A>C | |
| 2 | g.166280409T>A | CA349079533 | SCN1A-AS1,SCN9A | c.2291A>T (p.Glu764Val) c.2258A>T (p.Glu753Val) c.1293A>T n.1029+3162T>A c.1904A>T (p.Glu635Val) c.1547A>T (p.Glu516Val) n.2605A>T | |
| 2 | g.166280409T>C | CA349079535 | SCN1A-AS1,SCN9A | c.2291A>G (p.Glu764Gly) c.2258A>G (p.Glu753Gly) c.1293A>G n.1029+3162T>C c.1904A>G (p.Glu635Gly) c.1547A>G (p.Glu516Gly) n.2605A>G | |
| 2 | g.166280409T>G | CA349079534 | SCN1A-AS1,SCN9A | c.2291A>C (p.Glu764Ala) c.2258A>C (p.Glu753Ala) c.1293A>C n.1029+3162T>G c.1904A>C (p.Glu635Ala) c.1547A>C (p.Glu516Ala) n.2605A>C | |
| 2 | g.166280410C>A | CA349079536 | SCN1A-AS1,SCN9A | c.2290G>T (p.Glu764Ter) c.2257G>T (p.Glu753Ter) c.1292G>T n.1029+3163C>A c.1903G>T (p.Glu635Ter) c.1546G>T (p.Glu516Ter) n.2604G>T | dbSNP gnomAD v4 |
| 2 | g.166280410C= | CA1304965689 | SCN1A-AS1,SCN9A | c.2290G= (p.Glu764=) c.2257G= (p.Glu753=) c.1292G= n.1029+3163C= c.1903G= (p.Glu635=) c.1546G= (p.Glu516=) n.2604G= | |
| 2 | g.166280410C>G | CA349079538 | SCN1A-AS1,SCN9A | c.2290G>C (p.Glu764Gln) c.2257G>C (p.Glu753Gln) c.1292G>C n.1029+3163C>G c.1903G>C (p.Glu635Gln) c.1546G>C (p.Glu516Gln) n.2604G>C | |
| 2 | g.166280410C>T | CA349079537 | SCN1A-AS1,SCN9A | c.2290G>A (p.Glu764Lys) c.2257G>A (p.Glu753Lys) c.1292G>A n.1029+3163C>T c.1903G>A (p.Glu635Lys) c.1546G>A (p.Glu516Lys) n.2604G>A | gnomAD v4 |
| 2 | g.166280411C>A | CA349079539 | SCN1A-AS1,SCN9A | c.2289G>T (p.Met763Ile) c.2256G>T (p.Met752Ile) c.1291G>T n.1029+3164C>A c.1902G>T (p.Met634Ile) c.1545G>T (p.Met515Ile) n.2603G>T | |
| 2 | g.166280411C>G | CA349079540 | SCN1A-AS1,SCN9A | c.2289G>C (p.Met763Ile) c.2256G>C (p.Met752Ile) c.1291G>C n.1029+3164C>G c.1902G>C (p.Met634Ile) c.1545G>C (p.Met515Ile) n.2603G>C | gnomAD v4 |
| 2 | g.166280411C>T | CA349079541 | SCN1A-AS1,SCN9A | c.2289G>A (p.Met763Ile) c.2256G>A (p.Met752Ile) c.1291G>A n.1029+3164C>T c.1902G>A (p.Met634Ile) c.1545G>A (p.Met515Ile) n.2603G>A | |
| 2 | g.166280412A>C | CA349079542 | SCN1A-AS1,SCN9A | c.2288T>G (p.Met763Arg) c.2255T>G (p.Met752Arg) c.1290T>G n.1029+3165A>C c.1901T>G (p.Met634Arg) c.1544T>G (p.Met515Arg) n.2602T>G | |
| 2 | g.166280412A>G | CA349079543 | SCN1A-AS1,SCN9A | c.2288T>C (p.Met763Thr) c.2255T>C (p.Met752Thr) c.1290T>C n.1029+3165A>G c.1901T>C (p.Met634Thr) c.1544T>C (p.Met515Thr) n.2602T>C | gnomAD v4 |
| 2 | g.166280412A>T | CA349079544 | SCN1A-AS1,SCN9A | c.2288T>A (p.Met763Lys) c.2255T>A (p.Met752Lys) c.1290T>A n.1029+3165A>T c.1901T>A (p.Met634Lys) c.1544T>A (p.Met515Lys) n.2602T>A | gnomAD v4 |
| 2 | g.166280413T>A | CA349079545 | SCN1A-AS1,SCN9A | c.2287A>T (p.Met763Leu) c.2254A>T (p.Met752Leu) c.1289A>T n.1029+3166T>A c.1900A>T (p.Met634Leu) c.1543A>T (p.Met515Leu) n.2601A>T | |
| 2 | g.166280413T>C | CA59796589 | SCN1A-AS1,SCN9A | c.2287A>G (p.Met763Val) c.2254A>G (p.Met752Val) c.1289A>G n.1029+3166T>C c.1900A>G (p.Met634Val) c.1543A>G (p.Met515Val) n.2601A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.166280413T>G | CA349079546 | SCN1A-AS1,SCN9A | c.2287A>C (p.Met763Leu) c.2254A>C (p.Met752Leu) c.1289A>C n.1029+3166T>G c.1900A>C (p.Met634Leu) c.1543A>C (p.Met515Leu) n.2601A>C | |
| 2 | g.166280413T= | CA1304965693 | SCN1A-AS1,SCN9A | c.2287A= (p.Met763=) c.2254A= (p.Met752=) c.1289A= n.1029+3166T= c.1900A= (p.Met634=) c.1543A= (p.Met515=) n.2601A= | |
| 2 | g.166280414A>C | CA429902223 | SCN1A-AS1,SCN9A | c.2286T>G (p.Ala762=) c.2253T>G (p.Ala751=) c.1288T>G n.1029+3167A>C c.1899T>G (p.Ala633=) c.1542T>G (p.Ala514=) n.2600T>G | |
| 2 | g.166280414A>G | CA429902224 | SCN1A-AS1,SCN9A | c.2286T>C (p.Ala762=) c.2253T>C (p.Ala751=) c.1288T>C n.1029+3167A>G c.1899T>C (p.Ala633=) c.1542T>C (p.Ala514=) n.2600T>C | ClinVar dbSNP gnomAD v4 |
| 2 | g.166280414A>T | CA429902225 | SCN1A-AS1,SCN9A | c.2286T>A (p.Ala762=) c.2253T>A (p.Ala751=) c.1288T>A n.1029+3167A>T c.1899T>A (p.Ala633=) c.1542T>A (p.Ala514=) n.2600T>A | |
| 2 | g.166280415G>A | CA349079547 | SCN1A-AS1,SCN9A | c.2285C>T (p.Ala762Val) c.2252C>T (p.Ala751Val) c.1287C>T n.1029+3168G>A c.1898C>T (p.Ala633Val) c.1541C>T (p.Ala514Val) n.2599C>T | gnomAD v4 COSMIC COSMIC |
| 2 | g.166280415G>C | CA349079548 | SCN1A-AS1,SCN9A | c.2285C>G (p.Ala762Gly) c.2252C>G (p.Ala751Gly) c.1287C>G n.1029+3168G>C c.1898C>G (p.Ala633Gly) c.1541C>G (p.Ala514Gly) n.2599C>G | gnomAD v4 |
| 2 | g.166280415G>T | CA349079549 | SCN1A-AS1,SCN9A | c.2285C>A (p.Ala762Asp) c.2252C>A (p.Ala751Asp) c.1287C>A n.1029+3168G>T c.1898C>A (p.Ala633Asp) c.1541C>A (p.Ala514Asp) n.2599C>A | |
| 2 | g.166280416C>A | CA349079550 | SCN1A-AS1,SCN9A | c.2284G>T (p.Ala762Ser) c.2251G>T (p.Ala751Ser) c.1286G>T n.1029+3169C>A c.1897G>T (p.Ala633Ser) c.1540G>T (p.Ala514Ser) n.2598G>T | gnomAD v4 |
| 2 | g.166280416C>G | CA349079552 | SCN1A-AS1,SCN9A | c.2284G>C (p.Ala762Pro) c.2251G>C (p.Ala751Pro) c.1286G>C n.1029+3169C>G c.1897G>C (p.Ala633Pro) c.1540G>C (p.Ala514Pro) n.2598G>C | |
| 2 | g.166280416C>T | CA349079551 | SCN1A-AS1,SCN9A | c.2284G>A (p.Ala762Thr) c.2251G>A (p.Ala751Thr) c.1286G>A n.1029+3169C>T c.1897G>A (p.Ala633Thr) c.1540G>A (p.Ala514Thr) n.2598G>A | gnomAD v4 |
| 2 | g.166280417C>A | CA349079553 | SCN1A-AS1,SCN9A | c.2283G>T (p.Met761Ile) c.2250G>T (p.Met750Ile) c.1285G>T n.1029+3170C>A c.1896G>T (p.Met632Ile) c.1539G>T (p.Met513Ile) n.2597G>T | gnomAD v4 |
| 2 | g.166280417C>G | CA349079554 | SCN1A-AS1,SCN9A | c.2283G>C (p.Met761Ile) c.2250G>C (p.Met750Ile) c.1285G>C n.1029+3170C>G c.1896G>C (p.Met632Ile) c.1539G>C (p.Met513Ile) n.2597G>C | |
| 2 | g.166280417C>T | CA349079555 | SCN1A-AS1,SCN9A | c.2283G>A (p.Met761Ile) c.2250G>A (p.Met750Ile) c.1285G>A n.1029+3170C>T c.1896G>A (p.Met632Ile) c.1539G>A (p.Met513Ile) n.2597G>A | gnomAD v4 |
| 2 | g.166280418A= | CA1304965696 | SCN1A-AS1,SCN9A | c.2282T= (p.Met761=) c.2249T= (p.Met750=) c.1284T= n.1029+3171A= c.1895T= (p.Met632=) c.1538T= (p.Met513=) n.2596T= | |
| 2 | g.166280418A>C | CA349079556 | SCN1A-AS1,SCN9A | c.2282T>G (p.Met761Arg) c.2249T>G (p.Met750Arg) c.1284T>G n.1029+3171A>C c.1895T>G (p.Met632Arg) c.1538T>G (p.Met513Arg) n.2596T>G | |
| 2 | g.166280418A>G | CA349079557 | SCN1A-AS1,SCN9A | c.2282T>C (p.Met761Thr) c.2249T>C (p.Met750Thr) c.1284T>C n.1029+3171A>G c.1895T>C (p.Met632Thr) c.1538T>C (p.Met513Thr) n.2596T>C | |
| 2 | g.166280418A>T | CA349079558 | SCN1A-AS1,SCN9A | c.2282T>A (p.Met761Lys) c.2249T>A (p.Met750Lys) c.1284T>A n.1029+3171A>T c.1895T>A (p.Met632Lys) c.1538T>A (p.Met513Lys) n.2596T>A | ClinVar dbSNP |
| 2 | g.166280419T>A | CA349079559 | SCN1A-AS1,SCN9A | c.2281A>T (p.Met761Leu) c.2248A>T (p.Met750Leu) c.1283A>T n.1029+3172T>A c.1894A>T (p.Met632Leu) c.1537A>T (p.Met513Leu) n.2595A>T | |
| 2 | g.166280419T>C | CA349079560 | SCN1A-AS1,SCN9A | c.2281A>G (p.Met761Val) c.2248A>G (p.Met750Val) c.1283A>G n.1029+3172T>C c.1894A>G (p.Met632Val) c.1537A>G (p.Met513Val) n.2595A>G | |
| 2 | g.166280419T>G | CA349079561 | SCN1A-AS1,SCN9A | c.2281A>C (p.Met761Leu) c.2248A>C (p.Met750Leu) c.1283A>C n.1029+3172T>G c.1894A>C (p.Met632Leu) c.1537A>C (p.Met513Leu) n.2595A>C | |
| 2 | g.166280420A>C | CA349079563 | SCN1A-AS1,SCN9A | c.2280T>G (p.Phe760Leu) c.2247T>G (p.Phe749Leu) c.1282T>G n.1029+3173A>C c.1893T>G (p.Phe631Leu) c.1536T>G (p.Phe512Leu) n.2594T>G | |
| 2 | g.166280420A>G | CA429902236 | SCN1A-AS1,SCN9A | c.2280T>C (p.Phe760=) c.2247T>C (p.Phe749=) c.1282T>C n.1029+3173A>G c.1893T>C (p.Phe631=) c.1536T>C (p.Phe512=) n.2594T>C | gnomAD v4 |
| 2 | g.166280420A>T | CA349079562 | SCN1A-AS1,SCN9A | c.2280T>A (p.Phe760Leu) c.2247T>A (p.Phe749Leu) c.1282T>A n.1029+3173A>T c.1893T>A (p.Phe631Leu) c.1536T>A (p.Phe512Leu) n.2594T>A | |
| 2 | g.166280421A= | CA1304965698 | SCN1A-AS1,SCN9A | c.2279T= (p.Phe760=) c.2246T= (p.Phe749=) c.1281T= n.1029+3174A= c.1892T= (p.Phe631=) c.1535T= (p.Phe512=) n.2593T= | |
| 2 | g.166280421A>C | CA349079564 | SCN1A-AS1,SCN9A | c.2279T>G (p.Phe760Cys) c.2246T>G (p.Phe749Cys) c.1281T>G n.1029+3174A>C c.1892T>G (p.Phe631Cys) c.1535T>G (p.Phe512Cys) n.2593T>G | |
| 2 | g.166280421A>G | CA349079565 | SCN1A-AS1,SCN9A | c.2279T>C (p.Phe760Ser) c.2246T>C (p.Phe749Ser) c.1281T>C n.1029+3174A>G c.1892T>C (p.Phe631Ser) c.1535T>C (p.Phe512Ser) n.2593T>C | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.166280421A>T | CA349079566 | SCN1A-AS1,SCN9A | c.2279T>A (p.Phe760Tyr) c.2246T>A (p.Phe749Tyr) c.1281T>A n.1029+3174A>T c.1892T>A (p.Phe631Tyr) c.1535T>A (p.Phe512Tyr) n.2593T>A | |
| 2 | g.166280422A>C | CA349079567 | SCN1A-AS1,SCN9A | c.2278T>G (p.Phe760Val) c.2245T>G (p.Phe749Val) c.1280T>G n.1029+3175A>C c.1891T>G (p.Phe631Val) c.1534T>G (p.Phe512Val) n.2592T>G | |
| 2 | g.166280422A>G | CA349079568 | SCN1A-AS1,SCN9A | c.2278T>C (p.Phe760Leu) c.2245T>C (p.Phe749Leu) c.1280T>C n.1029+3175A>G c.1891T>C (p.Phe631Leu) c.1534T>C (p.Phe512Leu) n.2592T>C | |
| 2 | g.166280422A>T | CA349079569 | SCN1A-AS1,SCN9A | c.2278T>A (p.Phe760Ile) c.2245T>A (p.Phe749Ile) c.1280T>A n.1029+3175A>T c.1891T>A (p.Phe631Ile) c.1534T>A (p.Phe512Ile) n.2592T>A | gnomAD v4 |
| 2 | g.166280423T>A | CA349079571 | SCN1A-AS1,SCN9A | c.2277A>T (p.Leu759Phe) c.2244A>T (p.Leu748Phe) c.1279A>T n.1029+3176T>A c.1890A>T (p.Leu630Phe) c.1533A>T (p.Leu511Phe) n.2591A>T | ClinVar dbSNP |