Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.46858413T>C | CA014021 | MYL3 | c.530A>G (p.Glu177Gly) n.737A>G n.488A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.46858413T>A | CA352495398 | MYL3 | c.530A>T (p.Glu177Val) n.737A>T n.488A>T | dbSNP gnomAD v4 |
3 | g.46858413T= | CA1362296537 | MYL3 | c.530A= (p.Glu177=) n.737A= n.488A= | dbSNP |