| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.45508847C>A | CA827774 | MMACHC | c.481C>A (p.Arg161=) c.310C>A (p.Arg104=) c.286C>A (p.Arg96=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.45508847C>T | CA223189 | MMACHC | c.481C>T (p.Arg161Ter) c.310C>T (p.Arg104Ter) c.286C>T (p.Arg96Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.45508847C>G | CA340133167 | MMACHC | c.481C>G (p.Arg161Gly) c.310C>G (p.Arg104Gly) c.286C>G (p.Arg96Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |