Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.102843769G>C | CA229330 | PAH | c.1076C>G (p.Ser359Ter) c.1061C>G (p.Ser354Ter) n.835C>G n.738C>G c.180C>G n.591C>G c.1019C>G (p.Ser340Ter) | ClinVar dbSNP |
12 | g.102843769G>A | CA16020934 | PAH | c.1076C>T (p.Ser359Leu) c.1061C>T (p.Ser354Leu) n.835C>T n.738C>T c.180C>T n.591C>T c.1019C>T (p.Ser340Leu) | ClinVar dbSNP |