| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.45508982C>G | CA21829803 | MMACHC | c.616C>G (p.Arg206Gly) c.445C>G (p.Arg149Gly) c.421C>G (p.Arg141Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.45508982C>T | CA312738 | MMACHC | c.616C>T (p.Arg206Trp) c.445C>T (p.Arg149Trp) c.421C>T (p.Arg141Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.45508982C>A | CA417881514 | MMACHC | c.616C>A (p.Arg206=) c.445C>A (p.Arg149=) c.421C>A (p.Arg141=) | dbSNP |
| 1 | g.45508982C= | CA1145055217 | MMACHC | c.616C= (p.Arg206=) c.445C= (p.Arg149=) c.421C= (p.Arg141=) | dbSNP |