| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102852828A>C | CA251534 | PAH | c.829T>G (p.Tyr277Asp) c.814T>G (p.Tyr272Asp) n.588T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852828A>T | CA386294545 | PAH | c.829T>A (p.Tyr277Asn) c.814T>A (p.Tyr272Asn) n.588T>A | dbSNP |
| 12 | g.102852828A>G | CA386294544 | PAH | c.829T>C (p.Tyr277His) c.814T>C (p.Tyr272His) n.588T>C | dbSNP gnomAD v4 |
| 12 | g.102852828A= | CA2059446150 | PAH | c.829T= (p.Tyr277=) c.814T= (p.Tyr272=) n.588T= | dbSNP |