| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.149579643G>A | CA114489 | MMADHC | c.160C>T (p.Arg54Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
| 2 | g.149579643G>C | CA348870943 | MMADHC | c.160C>G (p.Arg54Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.149579643G>T | CA429406878 | MMADHC | c.160C>A (p.Arg54=) | ClinVar dbSNP gnomAD v4 |
| 2 | g.149579643G= | CA1297268634 | MMADHC | c.160C= (p.Arg54=) | dbSNP |