| 12 | g.102855211del | CA229667 | PAH | c.632del (p.Pro211HisfsTer?)
c.617del (p.Pro206HisfsTer?)
n.728del
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102855211dup | CA2580085713 | PAH | c.632dup (p.Leu212ThrfsTer3)
c.617dup (p.Leu207ThrfsTer3)
n.728dup
| ClinVar dbSNP |
