Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.23416134C>T | CA043977 | MHRT,MYH7 | c.4823G>A (p.Arg1608His) n.395C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.23416134C>A | CA043989 | MHRT,MYH7 | c.4823G>T (p.Arg1608Leu) n.395C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.23416134C>G | CA015359 | MHRT,MYH7 | c.4823G>C (p.Arg1608Pro) n.395C>G | ClinVar dbSNP |