Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.110913124G>A | CA010229 | MYL2 | c.374C>T (p.Thr125Met) c.317C>T (p.Thr106Met) c.332C>T (p.Thr111Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.110913124G>T | CA386697753 | MYL2 | c.374C>A (p.Thr125Lys) c.317C>A (p.Thr106Lys) c.332C>A (p.Thr111Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |