| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.45508806G>A | CA312733 | MMACHC | c.440G>A (p.Gly147Asp) c.269G>A (p.Gly90Asp) c.245G>A (p.Gly82Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.45508806G>C | CA312732 | MMACHC | c.440G>C (p.Gly147Ala) c.269G>C (p.Gly90Ala) c.245G>C (p.Gly82Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.45508806G= | CA1141747471 | MMACHC | c.440G= (p.Gly147=) c.269G= (p.Gly90=) c.245G= (p.Gly82=) | dbSNP |