| 1 | g.45508975G>A | CA259906 | MMACHC | c.609G>A (p.Trp203Ter)
c.438G>A (p.Trp146Ter)
c.414G>A (p.Trp138Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.45508975G= | CA1148224331 | MMACHC | c.609G= (p.Trp203=)
c.438G= (p.Trp146=)
c.414G= (p.Trp138=)
| dbSNP |
