| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.46858411C>T | CA014032 | MYL3 | c.532G>A (p.Asp178Asn) n.739G>A n.490G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.46858411C= | CA1362296535 | MYL3 | c.532G= (p.Asp178=) n.739G= n.490G= | dbSNP |
| 3 | g.46858411C>A | CA352495385 | MYL3 | c.532G>T (p.Asp178Tyr) n.739G>T n.490G>T | dbSNP gnomAD v4 |