| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102851701C>A | CA273108 | PAH | c.898G>T (p.Ala300Ser) c.883G>T (p.Ala295Ser) n.657G>T n.560G>T c.59G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102851701C>G | CA386294214 | PAH | c.898G>C (p.Ala300Pro) c.883G>C (p.Ala295Pro) n.657G>C n.560G>C c.59G>C | dbSNP |
| 12 | g.102851701C= | CA2059444413 | PAH | c.898G= (p.Ala300=) c.883G= (p.Ala295=) n.657G= n.560G= c.59G= | dbSNP |
| 12 | g.102851701C>T | CA386294218 | PAH | c.898G>A (p.Ala300Thr) c.883G>A (p.Ala295Thr) n.657G>A n.560G>A c.59G>A | dbSNP |