| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102852930G>A | CA220585 | PAH | c.727C>T (p.Arg243Ter) c.712C>T (p.Arg238Ter) n.486C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.102852930G>C | CA386295803 | PAH | c.727C>G (p.Arg243Gly) c.712C>G (p.Arg238Gly) n.486C>G | dbSNP |
| 12 | g.102852930G= | CA2059446676 | PAH | c.727C= (p.Arg243=) c.712C= (p.Arg238=) n.486C= | dbSNP |