| 2 | g.69363563G>A | CA128605 | GFPT1 | c.331C>T (p.Arg111Cys)
c.115C>T (p.Arg39Cys)
n.30C>T
c.406C>T (p.Arg136Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.69363563G= | CA1259076712 | GFPT1 | c.331C= (p.Arg111=)
c.115C= (p.Arg39=)
n.30C=
c.406C= (p.Arg136=)
| dbSNP |
