| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51790416T>A | CA16606654 | SCN8A | c.4438T>A (p.Phe1480Ile) c.2502T>A c.4315T>A (p.Phe1439Ile) c.4471T>A (p.Phe1491Ile) | ClinVar dbSNP |
| 12 | g.51790416T>C | CA318280 | SCN8A | c.4438T>C (p.Phe1480Leu) c.2502T>C c.4315T>C (p.Phe1439Leu) c.4471T>C (p.Phe1491Leu) | ClinVar dbSNP |
| 12 | g.51790416T>G | CA384909039 | SCN8A | c.4438T>G (p.Phe1480Val) c.2502T>G c.4315T>G (p.Phe1439Val) c.4471T>G (p.Phe1491Val) | |
| 12 | g.51790416T= | CA2036173444 | SCN8A | c.4438T= (p.Phe1480=) c.2502T= c.4315T= (p.Phe1439=) c.4471T= (p.Phe1491=) | |
| 12 | g.51790417T>A | CA384909040 | SCN8A | c.4439T>A (p.Phe1480Tyr) c.2503T>A c.4316T>A (p.Phe1439Tyr) c.4472T>A (p.Phe1491Tyr) | |
| 12 | g.51790417T>C | CA384909041 | SCN8A | c.4439T>C (p.Phe1480Ser) c.2503T>C c.4316T>C (p.Phe1439Ser) c.4472T>C (p.Phe1491Ser) | |
| 12 | g.51790417T>G | CA384909042 | SCN8A | c.4439T>G (p.Phe1480Cys) c.2503T>G c.4316T>G (p.Phe1439Cys) c.4472T>G (p.Phe1491Cys) | |
| 12 | g.51790418C>A | CA384909043 | SCN8A | c.4440C>A (p.Phe1480Leu) c.2504C>A c.4317C>A (p.Phe1439Leu) c.4473C>A (p.Phe1491Leu) | |
| 12 | g.51790418C>G | CA384909044 | SCN8A | c.4440C>G (p.Phe1480Leu) c.2504C>G c.4317C>G (p.Phe1439Leu) c.4473C>G (p.Phe1491Leu) | |
| 12 | g.51790418C>T | CA479795119 | SCN8A | c.4440C>T (p.Phe1480=) c.2504C>T c.4317C>T (p.Phe1439=) c.4473C>T (p.Phe1491=) | gnomAD v4 |
| 12 | g.51790419A= | CA2036173454 | SCN8A | c.4441A= (p.Met1481=) c.2505A= c.4318A= (p.Met1440=) c.4474A= (p.Met1492=) | |
| 12 | g.51790419A>C | CA384909046 | SCN8A | c.4441A>C (p.Met1481Leu) c.2505A>C c.4318A>C (p.Met1440Leu) c.4474A>C (p.Met1492Leu) | |
| 12 | g.51790419A>G | CA10603278 | SCN8A | c.4441A>G (p.Met1481Val) c.2505A>G c.4318A>G (p.Met1440Val) c.4474A>G (p.Met1492Val) | ClinVar dbSNP |
| 12 | g.51790419A>T | CA384909045 | SCN8A | c.4441A>T (p.Met1481Leu) c.2505A>T c.4318A>T (p.Met1440Leu) c.4474A>T (p.Met1492Leu) | gnomAD v4 |
| 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) |