| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102894756G>A | CA251526 | PAH | c.331C>T (p.Arg111Ter) c.316C>T (p.Arg106Ter) n.253C>T n.427C>T c.315C>T n.420C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.102894756G= | CA2059466574 | PAH | c.331C= (p.Arg111=) c.316C= (p.Arg106=) n.253C= n.427C= c.315C= n.420C= | dbSNP |
| 12 | g.102894756G>C | CA386303968 | PAH | c.331C>G (p.Arg111Gly) c.316C>G (p.Arg106Gly) n.253C>G n.427C>G c.315C>G n.420C>G | ClinVar dbSNP |