| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.46859529C>T | CA013774 | MYL3 | c.427G>A (p.Glu143Lys) n.649G>A n.385G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.46859529C>G | CA352496041 | MYL3 | c.427G>C (p.Glu143Gln) n.649G>C n.385G>C | dbSNP |
| 3 | g.46859529C= | CA1362297104 | MYL3 | c.427G= (p.Glu143=) n.649G= n.385G= | dbSNP |