| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102843777G>C | CA229327 | PAH | c.1068C>G (p.Tyr356Ter) c.1053C>G (p.Tyr351Ter) n.827C>G n.730C>G c.172C>G n.583C>G c.1011C>G (p.Tyr337Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102843777G>A | CA386493362 | PAH | c.1068C>T (p.Tyr356=) c.1053C>T (p.Tyr351=) n.827C>T n.730C>T c.172C>T n.583C>T c.1011C>T (p.Tyr337=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102843777G>T | CA273107 | PAH | c.1068C>A (p.Tyr356Ter) c.1053C>A (p.Tyr351Ter) n.827C>A n.730C>A c.172C>A n.583C>A c.1011C>A (p.Tyr337Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |