| 12 | g.102855230A>G | CA267665 | PAH | c.612T>C (p.Tyr204=)
c.597T>C (p.Tyr199=)
n.708T>C
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102855230A>C | CA229654 | PAH | c.612T>G (p.Tyr204Ter)
c.597T>G (p.Tyr199Ter)
n.708T>G
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
