| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.45508848G>A | CA223191 | MMACHC | c.482G>A (p.Arg161Gln) c.311G>A (p.Arg104Gln) c.287G>A (p.Arg96Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.45508848G= | CA1141580771 | MMACHC | c.482G= (p.Arg161=) c.311G= (p.Arg104=) c.287G= (p.Arg96=) | dbSNP |
| 1 | g.45508848G>T | CA340133171 | MMACHC | c.482G>T (p.Arg161Leu) c.311G>T (p.Arg104Leu) c.287G>T (p.Arg96Leu) | ClinVar dbSNP |