| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.31820503C>G | CA138534 | MYLK2 | c.430C>G (p.Pro144Ala) n.595C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.31820503C>T | CA9802919 | MYLK2 | c.430C>T (p.Pro144Ser) n.595C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.31820503C>A | CA408525580 | MYLK2 | c.430C>A (p.Pro144Thr) n.595C>A | dbSNP gnomAD v2 gnomAD v4 |