| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.149570119T>C | CA114488 | MMADHC | c.746A>G (p.Tyr249Cys) c.848A>G (p.Tyr283Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.149570119T= | CA1297264327 | MMADHC | c.746A= (p.Tyr249=) c.848A= (p.Tyr283=) | dbSNP |
| 2 | g.149570119T>A | CA348869336 | MMADHC | c.746A>T (p.Tyr249Phe) c.848A>T (p.Tyr283Phe) | dbSNP gnomAD v4 |