Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.102866600G>A | CA267693 | PAH | c.505C>T (p.Arg169Cys) c.490C>T (p.Arg164Cys) n.601C>T n.530+10862C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.102866600G>T | CA16020803 | PAH | c.505C>A (p.Arg169Ser) c.490C>A (p.Arg164Ser) n.601C>A n.530+10862C>A | ClinVar dbSNP |
12 | g.102866600G>C | CA16020804 | PAH | c.505C>G (p.Arg169Gly) c.490C>G (p.Arg164Gly) n.601C>G n.530+10862C>G | ClinVar dbSNP |