| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102852848C>T | CA229781 | PAH | c.809G>A (p.Arg270Lys) c.794G>A (p.Arg265Lys) n.568G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102852848C>G | CA386295222 | PAH | c.809G>C (p.Arg270Thr) c.794G>C (p.Arg265Thr) n.568G>C | dbSNP |
| 12 | g.102852848C= | CA2059446280 | PAH | c.809G= (p.Arg270=) c.794G= (p.Arg265=) n.568G= | dbSNP |