| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.63941058_63941096dup | CA2639322252 | SCN4A | c.5188_5226dup (p.Leu1742_Leu1743insCysAlaIleLysIleGlnArgAlaTyrArgArgHisLeu) | gnomAD v4 |
| 17 | g.63941069T>A | CA400613416 | SCN4A | c.5213A>T (p.Tyr1738Phe) | |
| 17 | g.63941069T>C | CA400613418 | SCN4A | c.5213A>G (p.Tyr1738Cys) | gnomAD v4 |
| 17 | g.63941069T>G | CA400613420 | SCN4A | c.5213A>C (p.Tyr1738Ser) | |
| 17 | g.63941070A= | CA2270160759 | SCN4A | c.5212T= (p.Tyr1738=) | |
| 17 | g.63941070A>C | CA8708814 | SCN4A | c.5212T>G (p.Tyr1738Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63941070A>G | CA400613425 | SCN4A | c.5212T>C (p.Tyr1738His) | |
| 17 | g.63941070A>T | CA400613426 | SCN4A | c.5212T>A (p.Tyr1738Asn) | |
| 17 | g.63941071G>A | CA501348072 | SCN4A | c.5211C>T (p.Ala1737=) | gnomAD v4 |
| 17 | g.63941071G>C | CA501348073 | SCN4A | c.5211C>G (p.Ala1737=) | |
| 17 | g.63941071G>T | CA501348074 | SCN4A | c.5211C>A (p.Ala1737=) | dbSNP gnomAD v4 |
| 17 | g.63941072G>A | CA8708815 | SCN4A | c.5210C>T (p.Ala1737Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.63941072G>C | CA400613431 | SCN4A | c.5210C>G (p.Ala1737Gly) | |
| 17 | g.63941072G= | CA2270160760 | SCN4A | c.5210C= (p.Ala1737=) | |
| 17 | g.63941072G>T | CA400613428 | SCN4A | c.5210C>A (p.Ala1737Asp) | |
| 17 | g.63941073C>A | CA400613436 | SCN4A | c.5209G>T (p.Ala1737Ser) | |
| 17 | g.63941073C= | CA2270160761 | SCN4A | c.5209G= (p.Ala1737=) | |
| 17 | g.63941073C>G | CA400613434 | SCN4A | c.5209G>C (p.Ala1737Pro) | |
| 17 | g.63941073C>T | CA8708816 | SCN4A | c.5209G>A (p.Ala1737Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.63941074C>A | CA400613439 | SCN4A | c.5208G>T (p.Arg1736Ser) | |
| 17 | g.63941074C>G | CA400613440 | SCN4A | c.5208G>C (p.Arg1736Ser) | |
| 17 | g.63941074C>T | CA501348081 | SCN4A | c.5208G>A (p.Arg1736=) | ClinVar |
| 17 | g.63941075C>A | CA400613442 | SCN4A | c.5207G>T (p.Arg1736Met) | |
| 17 | g.63941075C= | CA2270160762 | SCN4A | c.5207G= (p.Arg1736=) | |
| 17 | g.63941075C>G | CA400613445 | SCN4A | c.5207G>C (p.Arg1736Thr) | |
| 17 | g.63941075C>T | CA8708817 | SCN4A | c.5207G>A (p.Arg1736Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.63941076T>A | CA400613447 | SCN4A | c.5206A>T (p.Arg1736Trp) | |
| 17 | g.63941076T>C | CA400613449 | SCN4A | c.5206A>G (p.Arg1736Gly) | gnomAD v4 |
| 17 | g.63941076T>G | CA501348086 | SCN4A | c.5206A>C (p.Arg1736=) | |
| 17 | g.63941077C>A | CA400613450 | SCN4A | c.5205G>T (p.Gln1735His) | |
| 17 | g.63941077C= | CA2270160763 | SCN4A | c.5205G= (p.Gln1735=) | |
| 17 | g.63941077C>G | CA8708818 | SCN4A | c.5205G>C (p.Gln1735His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63941077C>T | CA501348088 | SCN4A | c.5205G>A (p.Gln1735=) | |
| 17 | g.63941078T>A | CA400613455 | SCN4A | c.5204A>T (p.Gln1735Leu) | |
| 17 | g.63941078T>C | CA400613454 | SCN4A | c.5204A>G (p.Gln1735Arg) | |
| 17 | g.63941078T>G | CA400613453 | SCN4A | c.5204A>C (p.Gln1735Pro) | |
| 17 | g.63941079G>A | CA400613458 | SCN4A | c.5203C>T (p.Gln1735Ter) | |
| 17 | g.63941079G>C | CA400613460 | SCN4A | c.5203C>G (p.Gln1735Glu) | |
| 17 | g.63941079G>T | CA400613461 | SCN4A | c.5203C>A (p.Gln1735Lys) | |
| 17 | g.63941080G>A | CA8708819 | SCN4A | c.5202C>T (p.Ile1734=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.63941080G>C | CA400613464 | SCN4A | c.5202C>G (p.Ile1734Met) | |
| 17 | g.63941080G= | CA2270160764 | SCN4A | c.5202C= (p.Ile1734=) | |
| 17 | g.63941080G>T | CA501348097 | SCN4A | c.5202C>A (p.Ile1734=) | dbSNP |
| 17 | g.63941081A= | CA2270160765 | SCN4A | c.5201T= (p.Ile1734=) | |
| 17 | g.63941081A>C | CA400613467 | SCN4A | c.5201T>G (p.Ile1734Ser) | gnomAD v4 |
| 17 | g.63941081A>G | CA292956458 | SCN4A | c.5201T>C (p.Ile1734Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63941081A>T | CA400613470 | SCN4A | c.5201T>A (p.Ile1734Asn) | |
| 17 | g.63941082T>A | CA400613472 | SCN4A | c.5200A>T (p.Ile1734Phe) | |
| 17 | g.63941082T>C | CA400613474 | SCN4A | c.5200A>G (p.Ile1734Val) | |
| 17 | g.63941082T>G | CA400613476 | SCN4A | c.5200A>C (p.Ile1734Leu) |