| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.46858426T>C | CA013986 | MYL3 | c.517A>G (p.Met173Val) n.724A>G n.475A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.46858426T>A | CA352495480 | MYL3 | c.517A>T (p.Met173Leu) n.724A>T n.475A>T | dbSNP |
| 3 | g.46858426T= | CA1362296543 | MYL3 | c.517A= (p.Met173=) n.724A= n.475A= | dbSNP |