| 1 | g.119750830C>T | CA120258 | HMGCS2 | c.1499G>A (p.Arg500His)
c.1373G>A (p.Arg458His)
c.1334G>A (p.Arg445His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.119750830C= | CA1141581013 | HMGCS2 | c.1499G= (p.Arg500=)
c.1373G= (p.Arg458=)
c.1334G= (p.Arg445=)
| dbSNP |
