| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.149582208C>G | CA58333608 | MMADHC | c.73G>C (p.Val25Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.149582208C>A | CA312747 | MMADHC | c.73G>T (p.Val25Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.149582208C= | CA1297269699 | MMADHC | c.73G= (p.Val25=) | dbSNP |