| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.45508329C>A | CA827723 | MMACHC | c.394C>A (p.Arg132=) c.223C>A (p.Arg75=) c.199C>A (p.Arg67=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.45508329C>T | CA251787 | MMACHC | c.394C>T (p.Arg132Ter) c.223C>T (p.Arg75Ter) c.199C>T (p.Arg67Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |