| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.50259210C>T | CA406944924 | MYH14 | c.2200C>T (p.Arg734Cys) c.2299C>T (p.Arg767Cys) c.2176C>T (p.Arg726Cys) c.-728+9456C>T (n.-728+9456C>T) c.2320C>T (p.Arg774Cys) c.2296C>T (p.Arg766Cys) c.2224C>T (p.Arg742Cys) | ClinVar dbSNP gnomAD v4 |
| 19 | g.50259210C>A | CA252135 | MYH14 | c.2200C>A (p.Arg734Ser) c.2299C>A (p.Arg767Ser) c.2176C>A (p.Arg726Ser) c.-728+9456C>A (n.-728+9456C>A) c.2320C>A (p.Arg774Ser) c.2296C>A (p.Arg766Ser) c.2224C>A (p.Arg742Ser) | ClinVar dbSNP gnomAD v4 |