| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.80280193G>T | CA210326839 | MAT1A | c.529C>A (p.Arg177=) c.340C>A (p.Arg114=) c.406C>A (p.Arg136=) | dbSNP |
| 10 | g.80280193G>A | CA5576773 | MAT1A | c.529C>T (p.Arg177Trp) c.340C>T (p.Arg114Trp) c.406C>T (p.Arg136Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80280193G= | CA1922577849 | MAT1A | c.529C= (p.Arg177=) c.340C= (p.Arg114=) c.406C= (p.Arg136=) | dbSNP |