Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.110800746G>C | CA374479486 | MUSK | c.2368G>C (p.Val790Leu) c.2110G>C (p.Val704Leu) c.2344G>C (p.Val782Leu) c.2080G>C (p.Val694Leu) c.2398G>C (p.Val800Leu) c.2374G>C (p.Val792Leu) c.2428G>C (p.Val810Leu) c.1132G>C (p.Val378Leu) c.2134G>C (p.Val712Leu) c.1108G>C (p.Val370Leu) | dbSNP |
9 | g.110800746G>A | CA249734 | MUSK | c.2368G>A (p.Val790Met) c.2110G>A (p.Val704Met) c.2344G>A (p.Val782Met) c.2080G>A (p.Val694Met) c.2398G>A (p.Val800Met) c.2374G>A (p.Val792Met) c.2428G>A (p.Val810Met) c.1132G>A (p.Val378Met) c.2134G>A (p.Val712Met) c.1108G>A (p.Val370Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |