| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.45500333A>T | CA21825901 | MMACHC | c.1A>T (p.Met1Leu) c.-222A>T (n.-222A>T) | ClinVar dbSNP |
| 1 | g.45500333A>G | CA827593 | MMACHC | c.1A>G (p.Met1Val) c.-222A>G (n.-222A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.45500333A= | CA2473780175 | MMACHC | c.1A= (p.Met1=) c.-222A= (n.-222A=) | dbSNP |