Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47338649C>T | CA011840 | MYBPC3 | c.2179G>A (p.Val727Met) c.2161G>A (p.Val721Met) c.2098G>A (p.Val700Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.47338649C>A | CA221690025 | MYBPC3 | c.2179G>T (p.Val727Leu) c.2161G>T (p.Val721Leu) c.2098G>T (p.Val700Leu) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47338649C>G | CA380320557 | MYBPC3 | c.2179G>C (p.Val727Leu) c.2161G>C (p.Val721Leu) c.2098G>C (p.Val700Leu) | ClinVar dbSNP |