Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.23424118C>G | CA257819011 | MYH7 | c.2711G>C (p.Arg904Pro) n.2817G>C | ClinVar dbSNP |
14 | g.23424118C>A | CA389047305 | MYH7 | c.2711G>T (p.Arg904Leu) n.2817G>T | ClinVar dbSNP |
14 | g.23424118C>T | CA012913 | MYH7 | c.2711G>A (p.Arg904His) n.2817G>A | ClinVar dbSNP gnomAD v4 |