| 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.51786554G>A | CA384904380 | SCN8A | c.3955G>A (p.Ala1319Thr) c.1749G>A c.2019G>A c.3832G>A (p.Ala1278Thr) n.206G>A c.3988G>A (p.Ala1330Thr) c.*53G>A (n.*53G>A) | |
| 12 | g.51786554G>C | CA384904382 | SCN8A | c.3955G>C (p.Ala1319Pro) c.1749G>C c.2019G>C c.3832G>C (p.Ala1278Pro) n.206G>C c.3988G>C (p.Ala1330Pro) c.*53G>C (n.*53G>C) | |
| 12 | g.51786554G= | CA2036202772 | SCN8A | c.3955G= (p.Ala1319=) c.1749G= c.2019G= c.3832G= (p.Ala1278=) n.206G= c.3988G= (p.Ala1330=) c.*53G= (n.*53G=) | |
| 12 | g.51786554G>T | CA318272 | SCN8A | c.3955G>T (p.Ala1319Ser) c.1749G>T c.2019G>T c.3832G>T (p.Ala1278Ser) n.206G>T c.3988G>T (p.Ala1330Ser) c.*53G>T (n.*53G>T) | ClinVar dbSNP |
| 12 | g.51786555C>A | CA384904383 | SCN8A | c.3956C>A (p.Ala1319Asp) c.1750C>A c.2020C>A c.3833C>A (p.Ala1278Asp) n.207C>A c.3989C>A (p.Ala1330Asp) c.*54C>A (n.*54C>A) | |
| 12 | g.51786555C>G | CA384904384 | SCN8A | c.3956C>G (p.Ala1319Gly) c.1750C>G c.2020C>G c.3833C>G (p.Ala1278Gly) n.207C>G c.3989C>G (p.Ala1330Gly) c.*54C>G (n.*54C>G) | |
| 12 | g.51786555C>T | CA384904387 | SCN8A | c.3956C>T (p.Ala1319Val) c.1750C>T c.2020C>T c.3833C>T (p.Ala1278Val) n.207C>T c.3989C>T (p.Ala1330Val) c.*54C>T (n.*54C>T) | |
| 12 | g.51786556C>A | CA480061484 | SCN8A | c.3957C>A (p.Ala1319=) c.1751C>A c.2021C>A c.3834C>A (p.Ala1278=) n.208C>A c.3990C>A (p.Ala1330=) c.*55C>A (n.*55C>A) | |
| 12 | g.51786556C= | CA2036202773 | SCN8A | c.3957C= (p.Ala1319=) c.1751C= c.2021C= c.3834C= (p.Ala1278=) n.208C= c.3990C= (p.Ala1330=) c.*55C= (n.*55C=) | |
| 12 | g.51786556C>G | CA480061483 | SCN8A | c.3957C>G (p.Ala1319=) c.1751C>G c.2021C>G c.3834C>G (p.Ala1278=) n.208C>G c.3990C>G (p.Ala1330=) c.*55C>G (n.*55C>G) | gnomAD v4 |
| 12 | g.51786556C>T | CA6571743 | SCN8A | c.3957C>T (p.Ala1319=) c.1751C>T c.2021C>T c.3834C>T (p.Ala1278=) n.208C>T c.3990C>T (p.Ala1330=) c.*55C>T (n.*55C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51786557T>A | CA384904397 | SCN8A | c.3958T>A (p.Leu1320Met) c.1752T>A c.2022T>A c.3835T>A (p.Leu1279Met) n.209T>A c.3991T>A (p.Leu1331Met) c.*56T>A (n.*56T>A) | |
| 12 | g.51786557T>C | CA480061486 | SCN8A | c.3958T>C (p.Leu1320=) c.1752T>C c.2022T>C c.3835T>C (p.Leu1279=) n.209T>C c.3991T>C (p.Leu1331=) c.*56T>C (n.*56T>C) | |
| 12 | g.51786557T>G | CA384904399 | SCN8A | c.3958T>G (p.Leu1320Val) c.1752T>G c.2022T>G c.3835T>G (p.Leu1279Val) n.209T>G c.3991T>G (p.Leu1331Val) c.*56T>G (n.*56T>G) | |
| 12 | g.51786558T>A | CA384904402 | SCN8A | c.3959T>A (p.Leu1320Ter) c.1753T>A c.2023T>A c.3836T>A (p.Leu1279Ter) n.210T>A c.3992T>A (p.Leu1331Ter) c.*57T>A (n.*57T>A) | dbSNP |
| 12 | g.51786558T>C | CA384904410 | SCN8A | c.3959T>C (p.Leu1320Ser) c.1753T>C c.2023T>C c.3836T>C (p.Leu1279Ser) n.210T>C c.3992T>C (p.Leu1331Ser) c.*57T>C (n.*57T>C) | |
| 12 | g.51786558T>G | CA384904412 | SCN8A | c.3959T>G (p.Leu1320Trp) c.1753T>G c.2023T>G c.3836T>G (p.Leu1279Trp) n.210T>G c.3992T>G (p.Leu1331Trp) c.*57T>G (n.*57T>G) | |
| 12 | g.51786558T= | CA2036202774 | SCN8A | c.3959T= (p.Leu1320=) c.1753T= c.2023T= c.3836T= (p.Leu1279=) n.210T= c.3992T= (p.Leu1331=) c.*57T= (n.*57T=) | |
| 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) |