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 |