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.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) | |
12 | g.51786573C>T | CA384904503 | SCN8A | c.3974C>T (p.Pro1325Leu) c.1768C>T c.2038C>T c.3851C>T (p.Pro1284Leu) n.225C>T c.4007C>T (p.Pro1336Leu) c.*72C>T (n.*72C>T) | |
12 | g.51786574C>A | CA480061512 | SCN8A | c.3975C>A (p.Pro1325=) c.1769C>A c.2039C>A c.3852C>A (p.Pro1284=) n.226C>A c.4008C>A (p.Pro1336=) c.*73C>A (n.*73C>A) | |
12 | g.51786574C= | CA2036202780 | SCN8A | c.3975C= (p.Pro1325=) c.1769C= c.2039C= c.3852C= (p.Pro1284=) n.226C= c.4008C= (p.Pro1336=) c.*73C= (n.*73C=) | |
12 | g.51786574C>G | CA6571744 | SCN8A | c.3975C>G (p.Pro1325=) c.1769C>G c.2039C>G c.3852C>G (p.Pro1284=) n.226C>G c.4008C>G (p.Pro1336=) c.*73C>G (n.*73C>G) | dbSNP ExAC gnomAD v2 |
12 | g.51786574C>T | CA480061513 | SCN8A | c.3975C>T (p.Pro1325=) c.1769C>T c.2039C>T c.3852C>T (p.Pro1284=) n.226C>T c.4008C>T (p.Pro1336=) c.*73C>T (n.*73C>T) | |
12 | g.51786575T>A | CA384904510 | SCN8A | c.3976T>A (p.Ser1326Thr) c.1770T>A c.2040T>A c.3853T>A (p.Ser1285Thr) n.227T>A c.4009T>A (p.Ser1337Thr) c.*74T>A (n.*74T>A) | |
12 | g.51786575T>C | CA384904513 | SCN8A | c.3976T>C (p.Ser1326Pro) c.1770T>C c.2040T>C c.3853T>C (p.Ser1285Pro) n.227T>C c.4009T>C (p.Ser1337Pro) c.*74T>C (n.*74T>C) | |
12 | g.51786575T>G | CA384904515 | SCN8A | c.3976T>G (p.Ser1326Ala) c.1770T>G c.2040T>G c.3853T>G (p.Ser1285Ala) n.227T>G c.4009T>G (p.Ser1337Ala) c.*74T>G (n.*74T>G) | |
12 | g.51786576C>A | CA384904525 | SCN8A | c.3977C>A (p.Ser1326Tyr) c.1771C>A c.2041C>A c.3854C>A (p.Ser1285Tyr) n.228C>A c.4010C>A (p.Ser1337Tyr) c.*75C>A (n.*75C>A) | |
12 | g.51786576C>G | CA384904527 | SCN8A | c.3977C>G (p.Ser1326Cys) c.1771C>G c.2041C>G c.3854C>G (p.Ser1285Cys) n.228C>G c.4010C>G (p.Ser1337Cys) c.*75C>G (n.*75C>G) | |
12 | g.51786576C>T | CA384904530 | SCN8A | c.3977C>T (p.Ser1326Phe) c.1771C>T c.2041C>T c.3854C>T (p.Ser1285Phe) n.228C>T c.4010C>T (p.Ser1337Phe) c.*75C>T (n.*75C>T) | |
12 | g.51786577C>A | CA480061517 | SCN8A | c.3978C>A (p.Ser1326=) c.1772C>A c.2042C>A c.3855C>A (p.Ser1285=) n.229C>A c.4011C>A (p.Ser1337=) c.*76C>A (n.*76C>A) | |
12 | g.51786577C>G | CA480061515 | SCN8A | c.3978C>G (p.Ser1326=) c.1772C>G c.2042C>G c.3855C>G (p.Ser1285=) n.229C>G c.4011C>G (p.Ser1337=) c.*76C>G (n.*76C>G) | |
12 | g.51786577C>T | CA480061516 | SCN8A | c.3978C>T (p.Ser1326=) c.1772C>T c.2042C>T c.3855C>T (p.Ser1285=) n.229C>T c.4011C>T (p.Ser1337=) c.*76C>T (n.*76C>T) | |
12 | g.51786578A= | CA2036202781 | SCN8A | c.3979A= (p.Ile1327=) c.1773A= c.2043A= c.3856A= (p.Ile1286=) n.230A= c.4012A= (p.Ile1338=) c.*77A= (n.*77A=) | |
12 | g.51786578A>C | CA384904532 | SCN8A | c.3979A>C (p.Ile1327Leu) c.1773A>C c.2043A>C c.3856A>C (p.Ile1286Leu) n.230A>C c.4012A>C (p.Ile1338Leu) c.*77A>C (n.*77A>C) | |
12 | g.51786578A>G | CA10586295 | SCN8A | c.3979A>G (p.Ile1327Val) c.1773A>G c.2043A>G c.3856A>G (p.Ile1286Val) n.230A>G c.4012A>G (p.Ile1338Val) c.*77A>G (n.*77A>G) | ClinVar dbSNP |
12 | g.51786578A>T | CA384904552 | SCN8A | c.3979A>T (p.Ile1327Phe) c.1773A>T c.2043A>T c.3856A>T (p.Ile1286Phe) n.230A>T c.4012A>T (p.Ile1338Phe) c.*77A>T (n.*77A>T) | |
12 | g.51786579T>A | CA384904571 | SCN8A | c.3980T>A (p.Ile1327Asn) c.1774T>A c.2044T>A c.3857T>A (p.Ile1286Asn) n.231T>A c.4013T>A (p.Ile1338Asn) c.*78T>A (n.*78T>A) | |
12 | g.51786579T>C | CA384904572 | SCN8A | c.3980T>C (p.Ile1327Thr) c.1774T>C c.2044T>C c.3857T>C (p.Ile1286Thr) n.231T>C c.4013T>C (p.Ile1338Thr) c.*78T>C (n.*78T>C) | |
12 | g.51786579T>G | CA384904570 | SCN8A | c.3980T>G (p.Ile1327Ser) c.1774T>G c.2044T>G c.3857T>G (p.Ile1286Ser) n.231T>G c.4013T>G (p.Ile1338Ser) c.*78T>G (n.*78T>G) | |
12 | g.51786580C>A | CA480061521 | SCN8A | c.3981C>A (p.Ile1327=) c.1775C>A c.2045C>A c.3858C>A (p.Ile1286=) n.232C>A c.4014C>A (p.Ile1338=) c.*79C>A (n.*79C>A) | |
12 | g.51786580C>G | CA384904575 | SCN8A | c.3981C>G (p.Ile1327Met) c.1775C>G c.2045C>G c.3858C>G (p.Ile1286Met) n.232C>G c.4014C>G (p.Ile1338Met) c.*79C>G (n.*79C>G) | |
12 | g.51786580C>T | CA480061522 | SCN8A | c.3981C>T (p.Ile1327=) c.1775C>T c.2045C>T c.3858C>T (p.Ile1286=) n.232C>T c.4014C>T (p.Ile1338=) c.*79C>T (n.*79C>T) | |
12 | g.51786581A= | CA2036202782 | SCN8A | c.3982A= (p.Met1328=) c.1776A= c.2046A= c.3859A= (p.Met1287=) n.233A= c.4015A= (p.Met1339=) c.*80A= (n.*80A=) | |
12 | g.51786581A>C | CA384904579 | SCN8A | c.3982A>C (p.Met1328Leu) c.1776A>C c.2046A>C c.3859A>C (p.Met1287Leu) n.233A>C c.4015A>C (p.Met1339Leu) c.*80A>C (n.*80A>C) | |
12 | g.51786581A>G | CA384904591 | SCN8A | c.3982A>G (p.Met1328Val) c.1776A>G c.2046A>G c.3859A>G (p.Met1287Val) n.233A>G c.4015A>G (p.Met1339Val) c.*80A>G (n.*80A>G) | ClinVar dbSNP |