Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.102844365C>G | CA229294 | PAH | c.1036G>C (p.Gly346Arg) c.1021G>C (p.Gly341Arg) n.795G>C n.698G>C c.140G>C n.551G>C c.979G>C (p.Gly327Arg) | ClinVar dbSNP |
12 | g.102844365C>T | CA229292 | PAH | c.1036G>A (p.Gly346Arg) c.1021G>A (p.Gly341Arg) n.795G>A n.698G>A c.140G>A n.551G>A c.979G>A (p.Gly327Arg) | ClinVar dbSNP |