| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.45507550G>A | CA272840 | MMACHC | c.276G>A (p.Glu92=) c.105G>A (p.Glu35=) c.82-662G>A (n.82-662G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.45507550G>T | CA272838 | MMACHC | c.276G>T (p.Glu92Asp) c.105G>T (p.Glu35Asp) c.82-662G>T (n.82-662G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.45507550G= | CA1146499230 | MMACHC | c.276G= (p.Glu92=) c.105G= (p.Glu35=) c.82-662G= (n.82-662G=) | dbSNP |