Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.51782158_51786734del | CA2580086413 | SCN8A | c.3942+1387_4135del c.1736+1887_1929del c.2006+1387_2199del c.3820-4384_4012del n.193+1887_386del c.3975+1387_4168del c.*40+1887_*233del | ClinVar |
12 | g.51786559G>A | CA480061487 | SCN8A | c.3960G>A (p.Leu1320=) c.1754G>A c.2024G>A c.3837G>A (p.Leu1279=) n.211G>A c.3993G>A (p.Leu1331=) c.*58G>A (n.*58G>A) | |
12 | g.51786559G>C | CA384904413 | SCN8A | c.3960G>C (p.Leu1320Phe) c.1754G>C c.2024G>C c.3837G>C (p.Leu1279Phe) n.211G>C c.3993G>C (p.Leu1331Phe) c.*58G>C (n.*58G>C) | |
12 | g.51786559G>T | CA384904415 | SCN8A | c.3960G>T (p.Leu1320Phe) c.1754G>T c.2024G>T c.3837G>T (p.Leu1279Phe) n.211G>T c.3993G>T (p.Leu1331Phe) c.*58G>T (n.*58G>T) | |
12 | g.51786560G>A | CA384904418 | SCN8A | c.3961G>A (p.Val1321Met) c.1755G>A c.2025G>A c.3838G>A (p.Val1280Met) n.212G>A c.3994G>A (p.Val1332Met) c.*59G>A (n.*59G>A) | |
12 | g.51786560G>C | CA384904422 | SCN8A | c.3961G>C (p.Val1321Leu) c.1755G>C c.2025G>C c.3838G>C (p.Val1280Leu) n.212G>C c.3994G>C (p.Val1332Leu) c.*59G>C (n.*59G>C) | |
12 | g.51786560G>T | CA384904423 | SCN8A | c.3961G>T (p.Val1321Leu) c.1755G>T c.2025G>T c.3838G>T (p.Val1280Leu) n.212G>T c.3994G>T (p.Val1332Leu) c.*59G>T (n.*59G>T) | |
12 | g.51786561T>A | CA384904428 | SCN8A | c.3962T>A (p.Val1321Glu) c.1756T>A c.2026T>A c.3839T>A (p.Val1280Glu) n.213T>A c.3995T>A (p.Val1332Glu) c.*60T>A (n.*60T>A) | |
12 | g.51786561T>C | CA384904434 | SCN8A | c.3962T>C (p.Val1321Ala) c.1756T>C c.2026T>C c.3839T>C (p.Val1280Ala) n.213T>C c.3995T>C (p.Val1332Ala) c.*60T>C (n.*60T>C) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51786561T>G | CA384904438 | SCN8A | c.3962T>G (p.Val1321Gly) c.1756T>G c.2026T>G c.3839T>G (p.Val1280Gly) n.213T>G c.3995T>G (p.Val1332Gly) c.*60T>G (n.*60T>G) | |
12 | g.51786561T= | CA2036202775 | SCN8A | c.3962T= (p.Val1321=) c.1756T= c.2026T= c.3839T= (p.Val1280=) n.213T= c.3995T= (p.Val1332=) c.*60T= (n.*60T=) | |
12 | g.51786562G>A | CA480061490 | SCN8A | c.3963G>A (p.Val1321=) c.1757G>A c.2027G>A c.3840G>A (p.Val1280=) n.214G>A c.3996G>A (p.Val1332=) c.*61G>A (n.*61G>A) | gnomAD v4 |
12 | g.51786562G>C | CA480061491 | SCN8A | c.3963G>C (p.Val1321=) c.1757G>C c.2027G>C c.3840G>C (p.Val1280=) n.214G>C c.3996G>C (p.Val1332=) c.*61G>C (n.*61G>C) | |
12 | g.51786562G>T | CA480061493 | SCN8A | c.3963G>T (p.Val1321=) c.1757G>T c.2027G>T c.3840G>T (p.Val1280=) n.214G>T c.3996G>T (p.Val1332=) c.*61G>T (n.*61G>T) | |
12 | g.51786563G>A | CA384904443 | SCN8A | c.3964G>A (p.Gly1322Ser) c.1758G>A c.2028G>A c.3841G>A (p.Gly1281Ser) n.215G>A c.3997G>A (p.Gly1333Ser) c.*62G>A (n.*62G>A) | |
12 | g.51786563G>C | CA384904441 | SCN8A | c.3964G>C (p.Gly1322Arg) c.1758G>C c.2028G>C c.3841G>C (p.Gly1281Arg) n.215G>C c.3997G>C (p.Gly1333Arg) c.*62G>C (n.*62G>C) | ClinVar dbSNP |
12 | g.51786563G>T | CA384904440 | SCN8A | c.3964G>T (p.Gly1322Cys) c.1758G>T c.2028G>T c.3841G>T (p.Gly1281Cys) n.215G>T c.3997G>T (p.Gly1333Cys) c.*62G>T (n.*62G>T) | |
12 | g.51786564G>A | CA384904445 | SCN8A | c.3965G>A (p.Gly1322Asp) c.1759G>A c.2029G>A c.3842G>A (p.Gly1281Asp) n.216G>A c.3998G>A (p.Gly1333Asp) c.*63G>A (n.*63G>A) | |
12 | g.51786564G>C | CA384904448 | SCN8A | c.3965G>C (p.Gly1322Ala) c.1759G>C c.2029G>C c.3842G>C (p.Gly1281Ala) n.216G>C c.3998G>C (p.Gly1333Ala) c.*63G>C (n.*63G>C) | |
12 | g.51786564G>T | CA384904447 | SCN8A | c.3965G>T (p.Gly1322Val) c.1759G>T c.2029G>T c.3842G>T (p.Gly1281Val) n.216G>T c.3998G>T (p.Gly1333Val) c.*63G>T (n.*63G>T) | |
12 | g.51786565C>A | CA480061495 | SCN8A | c.3966C>A (p.Gly1322=) c.1760C>A c.2030C>A c.3843C>A (p.Gly1281=) n.217C>A c.3999C>A (p.Gly1333=) c.*64C>A (n.*64C>A) | gnomAD v4 |
12 | g.51786565C= | CA2036202776 | SCN8A | c.3966C= (p.Gly1322=) c.1760C= c.2030C= c.3843C= (p.Gly1281=) n.217C= c.3999C= (p.Gly1333=) c.*64C= (n.*64C=) | |
12 | g.51786565C>G | CA480061496 | SCN8A | c.3966C>G (p.Gly1322=) c.1760C>G c.2030C>G c.3843C>G (p.Gly1281=) n.217C>G c.3999C>G (p.Gly1333=) c.*64C>G (n.*64C>G) | |
12 | g.51786565C>T | CA318237 | SCN8A | c.3966C>T (p.Gly1322=) c.1760C>T c.2030C>T c.3843C>T (p.Gly1281=) n.217C>T c.3999C>T (p.Gly1333=) c.*64C>T (n.*64C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
12 | g.51786566G>A | CA242212 | SCN8A | c.3967G>A (p.Ala1323Thr) c.1761G>A c.2031G>A c.3844G>A (p.Ala1282Thr) n.218G>A c.4000G>A (p.Ala1334Thr) c.*65G>A (n.*65G>A) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
12 | g.51786566G>C | CA384904452 | SCN8A | c.3967G>C (p.Ala1323Pro) c.1761G>C c.2031G>C c.3844G>C (p.Ala1282Pro) n.218G>C c.4000G>C (p.Ala1334Pro) c.*65G>C (n.*65G>C) | |
12 | g.51786566G= | CA2036202777 | SCN8A | c.3967G= (p.Ala1323=) c.1761G= c.2031G= c.3844G= (p.Ala1282=) n.218G= c.4000G= (p.Ala1334=) c.*65G= (n.*65G=) | |
12 | g.51786566G>T | CA384904455 | SCN8A | c.3967G>T (p.Ala1323Ser) c.1761G>T c.2031G>T c.3844G>T (p.Ala1282Ser) n.218G>T c.4000G>T (p.Ala1334Ser) c.*65G>T (n.*65G>T) | ClinVar dbSNP |
12 | g.51786567C>A | CA384904461 | SCN8A | c.3968C>A (p.Ala1323Asp) c.1762C>A c.2032C>A c.3845C>A (p.Ala1282Asp) n.219C>A c.4001C>A (p.Ala1334Asp) c.*66C>A (n.*66C>A) | |
12 | g.51786567C>G | CA384904463 | SCN8A | c.3968C>G (p.Ala1323Gly) c.1762C>G c.2032C>G c.3845C>G (p.Ala1282Gly) n.219C>G c.4001C>G (p.Ala1334Gly) c.*66C>G (n.*66C>G) | |
12 | g.51786567C>T | CA384904469 | SCN8A | c.3968C>T (p.Ala1323Val) c.1762C>T c.2032C>T c.3845C>T (p.Ala1282Val) n.219C>T c.4001C>T (p.Ala1334Val) c.*66C>T (n.*66C>T) | |
12 | g.51786568C>A | CA480061501 | SCN8A | c.3969C>A (p.Ala1323=) c.1763C>A c.2033C>A c.3846C>A (p.Ala1282=) n.220C>A c.4002C>A (p.Ala1334=) c.*67C>A (n.*67C>A) | |
12 | g.51786568C= | CA2036202778 | SCN8A | c.3969C= (p.Ala1323=) c.1763C= c.2033C= c.3846C= (p.Ala1282=) n.220C= c.4002C= (p.Ala1334=) c.*67C= (n.*67C=) | |
12 | g.51786568C>G | CA480061502 | SCN8A | c.3969C>G (p.Ala1323=) c.1763C>G c.2033C>G c.3846C>G (p.Ala1282=) n.220C>G c.4002C>G (p.Ala1334=) c.*67C>G (n.*67C>G) | |
12 | g.51786568C>T | CA480061503 | SCN8A | c.3969C>T (p.Ala1323=) c.1763C>T c.2033C>T c.3846C>T (p.Ala1282=) n.220C>T c.4002C>T (p.Ala1334=) c.*67C>T (n.*67C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51786569A= | CA2036202779 | SCN8A | c.3970A= (p.Ile1324=) c.1764A= c.2034A= c.3847A= (p.Ile1283=) n.221A= c.4003A= (p.Ile1335=) c.*68A= (n.*68A=) | |
12 | g.51786569A>C | CA384904473 | SCN8A | c.3970A>C (p.Ile1324Leu) c.1764A>C c.2034A>C c.3847A>C (p.Ile1283Leu) n.221A>C c.4003A>C (p.Ile1335Leu) c.*68A>C (n.*68A>C) | |
12 | g.51786569A>G | CA384904476 | SCN8A | c.3970A>G (p.Ile1324Val) c.1764A>G c.2034A>G c.3847A>G (p.Ile1283Val) n.221A>G c.4003A>G (p.Ile1335Val) c.*68A>G (n.*68A>G) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51786569A>T | CA384904478 | SCN8A | c.3970A>T (p.Ile1324Phe) c.1764A>T c.2034A>T c.3847A>T (p.Ile1283Phe) n.221A>T c.4003A>T (p.Ile1335Phe) c.*68A>T (n.*68A>T) | |
12 | g.51786570T>A | CA384904480 | SCN8A | c.3971T>A (p.Ile1324Asn) c.1765T>A c.2035T>A c.3848T>A (p.Ile1283Asn) n.222T>A c.4004T>A (p.Ile1335Asn) c.*69T>A (n.*69T>A) | |
12 | g.51786570T>C | CA384904482 | SCN8A | c.3971T>C (p.Ile1324Thr) c.1765T>C c.2035T>C c.3848T>C (p.Ile1283Thr) n.222T>C c.4004T>C (p.Ile1335Thr) c.*69T>C (n.*69T>C) | |
12 | g.51786570T>G | CA384904483 | SCN8A | c.3971T>G (p.Ile1324Ser) c.1765T>G c.2035T>G c.3848T>G (p.Ile1283Ser) n.222T>G c.4004T>G (p.Ile1335Ser) c.*69T>G (n.*69T>G) | |
12 | g.51786571C>A | CA480061506 | SCN8A | c.3972C>A (p.Ile1324=) c.1766C>A c.2036C>A c.3849C>A (p.Ile1283=) n.223C>A c.4005C>A (p.Ile1335=) c.*70C>A (n.*70C>A) | |
12 | g.51786571C>G | CA384904484 | SCN8A | c.3972C>G (p.Ile1324Met) c.1766C>G c.2036C>G c.3849C>G (p.Ile1283Met) n.223C>G c.4005C>G (p.Ile1335Met) c.*70C>G (n.*70C>G) | |
12 | g.51786571C>T | CA480061507 | SCN8A | c.3972C>T (p.Ile1324=) c.1766C>T c.2036C>T c.3849C>T (p.Ile1283=) n.223C>T c.4005C>T (p.Ile1335=) c.*70C>T (n.*70C>T) | |
12 | g.51786572C>A | CA384904492 | SCN8A | c.3973C>A (p.Pro1325Thr) c.1767C>A c.2037C>A c.3850C>A (p.Pro1284Thr) n.224C>A c.4006C>A (p.Pro1336Thr) c.*71C>A (n.*71C>A) | |
12 | g.51786572C>G | CA384904489 | SCN8A | c.3973C>G (p.Pro1325Ala) c.1767C>G c.2037C>G c.3850C>G (p.Pro1284Ala) n.224C>G c.4006C>G (p.Pro1336Ala) c.*71C>G (n.*71C>G) | |
12 | g.51786572C>T | CA384904486 | SCN8A | c.3973C>T (p.Pro1325Ser) c.1767C>T c.2037C>T c.3850C>T (p.Pro1284Ser) n.224C>T c.4006C>T (p.Pro1336Ser) c.*71C>T (n.*71C>T) | COSMIC COSMIC |
12 | g.51786573C>A | CA384904497 | SCN8A | c.3974C>A (p.Pro1325His) c.1768C>A c.2038C>A c.3851C>A (p.Pro1284His) n.225C>A c.4007C>A (p.Pro1336His) c.*72C>A (n.*72C>A) | |
12 | g.51786573C>G | CA384904501 | SCN8A | c.3974C>G (p.Pro1325Arg) c.1768C>G c.2038C>G c.3851C>G (p.Pro1284Arg) n.225C>G c.4007C>G (p.Pro1336Arg) c.*72C>G (n.*72C>G) |