| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51790420T>A | CA318282 | SCN8A | c.4442T>A (p.Met1481Lys) c.2506T>A c.4319T>A (p.Met1440Lys) c.4475T>A (p.Met1492Lys) | dbSNP |
| 12 | g.51790420T>C | CA384909047 | SCN8A | c.4442T>C (p.Met1481Thr) c.2506T>C c.4319T>C (p.Met1440Thr) c.4475T>C (p.Met1492Thr) | |
| 12 | g.51790420T>G | CA384909048 | SCN8A | c.4442T>G (p.Met1481Arg) c.2506T>G c.4319T>G (p.Met1440Arg) c.4475T>G (p.Met1492Arg) | |
| 12 | g.51790420T= | CA2036173460 | SCN8A | c.4442T= (p.Met1481=) c.2506T= c.4319T= (p.Met1440=) c.4475T= (p.Met1492=) | |
| 12 | g.51790421G>A | CA384909049 | SCN8A | c.4443G>A (p.Met1481Ile) c.2507G>A c.4320G>A (p.Met1440Ile) c.4476G>A (p.Met1492Ile) | |
| 12 | g.51790421G>C | CA384909050 | SCN8A | c.4443G>C (p.Met1481Ile) c.2507G>C c.4320G>C (p.Met1440Ile) c.4476G>C (p.Met1492Ile) | |
| 12 | g.51790421G>T | CA384909051 | SCN8A | c.4443G>T (p.Met1481Ile) c.2507G>T c.4320G>T (p.Met1440Ile) c.4476G>T (p.Met1492Ile) | dbSNP gnomAD v4 |
| 12 | g.51790421_51790422delinsT | CA2695216830 | SCN8A | c.4443_4444delinsT (p.Met1481IlefsTer12) c.2507_2508delinsT c.4320_4321delinsT (p.Met1440IlefsTer12) c.4476_4477delinsT (p.Met1492IlefsTer12) | |
| 12 | g.51790421_51790422delinsGA | CA2036173463 | SCN8A | c.4443_4444delinsGA (p.Met1481=) c.2507_2508delinsGA c.4320_4321delinsGA (p.Met1440=) c.4476_4477delinsGA (p.Met1492=) | |
| 12 | g.51790421_51790422delinsTG | CA916083312 | SCN8A | c.4443_4444delinsTG (p.Met1481_Thr1482delinsIleAla) c.2507_2508delinsTG c.4320_4321delinsTG (p.Met1440_Thr1441delinsIleAla) c.4476_4477delinsTG (p.Met1492_Thr1493delinsIleAla) | ClinVar dbSNP |
| 12 | g.51790422A>C | CA384909054 | SCN8A | c.4444A>C (p.Thr1482Pro) c.2508A>C c.4321A>C (p.Thr1441Pro) c.4477A>C (p.Thr1493Pro) | |
| 12 | g.51790422A>G | CA384909053 | SCN8A | c.4444A>G (p.Thr1482Ala) c.2508A>G c.4321A>G (p.Thr1441Ala) c.4477A>G (p.Thr1493Ala) | ClinVar |
| 12 | g.51790422A>T | CA384909052 | SCN8A | c.4444A>T (p.Thr1482Ser) c.2508A>T c.4321A>T (p.Thr1441Ser) c.4477A>T (p.Thr1493Ser) | |
| 12 | g.51790423C>A | CA384909055 | SCN8A | c.4445C>A (p.Thr1482Asn) c.2509C>A c.4322C>A (p.Thr1441Asn) c.4478C>A (p.Thr1493Asn) | |
| 12 | g.51790423C>G | CA384909057 | SCN8A | c.4445C>G (p.Thr1482Ser) c.2509C>G c.4322C>G (p.Thr1441Ser) c.4478C>G (p.Thr1493Ser) | |
| 12 | g.51790423C>T | CA384909056 | SCN8A | c.4445C>T (p.Thr1482Ile) c.2509C>T c.4322C>T (p.Thr1441Ile) c.4478C>T (p.Thr1493Ile) | |
| 12 | g.51790424C>A | CA479795120 | SCN8A | c.4446C>A (p.Thr1482=) c.2510C>A c.4323C>A (p.Thr1441=) c.4479C>A (p.Thr1493=) | gnomAD v4 |
| 12 | g.51790424C= | CA2036173467 | SCN8A | c.4446C= (p.Thr1482=) c.2510C= c.4323C= (p.Thr1441=) c.4479C= (p.Thr1493=) | |
| 12 | g.51790424C>G | CA479795121 | SCN8A | c.4446C>G (p.Thr1482=) c.2510C>G c.4323C>G (p.Thr1441=) c.4479C>G (p.Thr1493=) | |
| 12 | g.51790424C>T | CA6571819 | SCN8A | c.4446C>T (p.Thr1482=) c.2510C>T c.4323C>T (p.Thr1441=) c.4479C>T (p.Thr1493=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51790425G>A | CA10586233 | SCN8A | c.4447G>A (p.Glu1483Lys) c.2511G>A c.4324G>A (p.Glu1442Lys) c.4480G>A (p.Glu1494Lys) | ClinVar dbSNP gnomAD v4 |
| 12 | g.51790425G>C | CA384909058 | SCN8A | c.4447G>C (p.Glu1483Gln) c.2511G>C c.4324G>C (p.Glu1442Gln) c.4480G>C (p.Glu1494Gln) | |
| 12 | g.51790425G= | CA2036173471 | SCN8A | c.4447G= (p.Glu1483=) c.2511G= c.4324G= (p.Glu1442=) c.4480G= (p.Glu1494=) | |
| 12 | g.51790425G>T | CA384909059 | SCN8A | c.4447G>T (p.Glu1483Ter) c.2511G>T c.4324G>T (p.Glu1442Ter) c.4480G>T (p.Glu1494Ter) | dbSNP |
| 12 | g.51790426A>C | CA384909060 | SCN8A | c.4448A>C (p.Glu1483Ala) c.2512A>C c.4325A>C (p.Glu1442Ala) c.4481A>C (p.Glu1494Ala) | |
| 12 | g.51790426A>G | CA384909061 | SCN8A | c.4448A>G (p.Glu1483Gly) c.2512A>G c.4325A>G (p.Glu1442Gly) c.4481A>G (p.Glu1494Gly) | |
| 12 | g.51790426A>T | CA384909062 | SCN8A | c.4448A>T (p.Glu1483Val) c.2512A>T c.4325A>T (p.Glu1442Val) c.4481A>T (p.Glu1494Val) | |
| 12 | g.51790427A>C | CA384909063 | SCN8A | c.4449A>C (p.Glu1483Asp) c.2513A>C c.4326A>C (p.Glu1442Asp) c.4482A>C (p.Glu1494Asp) | |
| 12 | g.51790427A>G | CA479795122 | SCN8A | c.4449A>G (p.Glu1483=) c.2513A>G c.4326A>G (p.Glu1442=) c.4482A>G (p.Glu1494=) | |
| 12 | g.51790427A>T | CA384909064 | SCN8A | c.4449A>T (p.Glu1483Asp) c.2513A>T c.4326A>T (p.Glu1442Asp) c.4482A>T (p.Glu1494Asp) | |
| 12 | g.51790428G>A | CA384909065 | SCN8A | c.4450G>A (p.Glu1484Lys) c.2514G>A c.4327G>A (p.Glu1443Lys) c.4483G>A (p.Glu1495Lys) | |
| 12 | g.51790428G>C | CA384909066 | SCN8A | c.4450G>C (p.Glu1484Gln) c.2514G>C c.4327G>C (p.Glu1443Gln) c.4483G>C (p.Glu1495Gln) | |
| 12 | g.51790428G= | CA2036173475 | SCN8A | c.4450G= (p.Glu1484=) c.2514G= c.4327G= (p.Glu1443=) c.4483G= (p.Glu1495=) | |
| 12 | g.51790428G>T | CA384909067 | SCN8A | c.4450G>T (p.Glu1484Ter) c.2514G>T c.4327G>T (p.Glu1443Ter) c.4483G>T (p.Glu1495Ter) | dbSNP |
| 12 | g.51790429A>C | CA384909068 | SCN8A | c.4451A>C (p.Glu1484Ala) c.2515A>C c.4328A>C (p.Glu1443Ala) c.4484A>C (p.Glu1495Ala) | |
| 12 | g.51790429A>G | CA384909069 | SCN8A | c.4451A>G (p.Glu1484Gly) c.2515A>G c.4328A>G (p.Glu1443Gly) c.4484A>G (p.Glu1495Gly) | |
| 12 | g.51790429A>T | CA384909070 | SCN8A | c.4451A>T (p.Glu1484Val) c.2515A>T c.4328A>T (p.Glu1443Val) c.4484A>T (p.Glu1495Val) | |
| 12 | g.51790430A>C | CA384909071 | SCN8A | c.4452A>C (p.Glu1484Asp) c.2516A>C c.4329A>C (p.Glu1443Asp) c.4485A>C (p.Glu1495Asp) | |
| 12 | g.51790430A>G | CA479795123 | SCN8A | c.4452A>G (p.Glu1484=) c.2516A>G c.4329A>G (p.Glu1443=) c.4485A>G (p.Glu1495=) | |
| 12 | g.51790430A>T | CA384909072 | SCN8A | c.4452A>T (p.Glu1484Asp) c.2516A>T c.4329A>T (p.Glu1443Asp) c.4485A>T (p.Glu1495Asp) | |
| 12 | g.51790431C>A | CA384909073 | SCN8A | c.4453C>A (p.Gln1485Lys) c.2517C>A c.4330C>A (p.Gln1444Lys) c.4486C>A (p.Gln1496Lys) | |
| 12 | g.51790431C= | CA2036173479 | SCN8A | c.4453C= (p.Gln1485=) c.2517C= c.4330C= (p.Gln1444=) c.4486C= (p.Gln1496=) | |
| 12 | g.51790431C>G | CA384909074 | SCN8A | c.4453C>G (p.Gln1485Glu) c.2517C>G c.4330C>G (p.Gln1444Glu) c.4486C>G (p.Gln1496Glu) | |
| 12 | g.51790431C>T | CA384909075 | SCN8A | c.4453C>T (p.Gln1485Ter) c.2517C>T c.4330C>T (p.Gln1444Ter) c.4486C>T (p.Gln1496Ter) | dbSNP |
| 12 | g.51790432A>C | CA384909076 | SCN8A | c.4454A>C (p.Gln1485Pro) c.2518A>C c.4331A>C (p.Gln1444Pro) c.4487A>C (p.Gln1496Pro) | |
| 12 | g.51790432A>G | CA384909077 | SCN8A | c.4454A>G (p.Gln1485Arg) c.2518A>G c.4331A>G (p.Gln1444Arg) c.4487A>G (p.Gln1496Arg) | |
| 12 | g.51790432A>T | CA384909078 | SCN8A | c.4454A>T (p.Gln1485Leu) c.2518A>T c.4331A>T (p.Gln1444Leu) c.4487A>T (p.Gln1496Leu) | |
| 12 | g.51790433G>A | CA479795124 | SCN8A | c.4455G>A (p.Gln1485=) c.2519G>A c.4332G>A (p.Gln1444=) c.4488G>A (p.Gln1496=) | |
| 12 | g.51790433G>C | CA384909079 | SCN8A | c.4455G>C (p.Gln1485His) c.2519G>C c.4332G>C (p.Gln1444His) c.4488G>C (p.Gln1496His) | |
| 12 | g.51790433G>T | CA384909080 | SCN8A | c.4455G>T (p.Gln1485His) c.2519G>T c.4332G>T (p.Gln1444His) c.4488G>T (p.Gln1496His) |