| 12 | g.102866602del | CA229588 | PAH | c.503del (p.Tyr168SerfsTer27)
c.488del (p.Tyr163SerfsTer27)
n.599del
n.530+10860del
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102866602T= | CA2059456976 | PAH | c.503A= (p.Tyr168=)
c.488A= (p.Tyr163=)
n.599A=
n.530+10860A=
| dbSNP dbSNP |
