| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.75985986A>G | CA257665 | POR | c.1508A>G (p.Tyr503Cys) c.1634A>G (p.Tyr545Cys) c.1733A>G (p.Tyr578Cys) c.*109-74A>G (n.*109-74A>G) c.947A>G (p.Tyr316Cys) c.1884A>G c.*1038A>G (n.*1038A>G) n.344A>G c.1787A>G (p.Tyr596Cys) c.1583A>G (p.Tyr528Cys) c.1724A>G (p.Tyr575Cys) c.1778A>G (p.Tyr593Cys) c.1574A>G (p.Tyr525Cys) | ClinVar dbSNP |
| 7 | g.75985986A>T | CA367750559 | POR | c.1508A>T (p.Tyr503Phe) c.1634A>T (p.Tyr545Phe) c.1733A>T (p.Tyr578Phe) c.*109-74A>T (n.*109-74A>T) c.947A>T (p.Tyr316Phe) c.1884A>T c.*1038A>T (n.*1038A>T) n.344A>T c.1787A>T (p.Tyr596Phe) c.1583A>T (p.Tyr528Phe) c.1724A>T (p.Tyr575Phe) c.1778A>T (p.Tyr593Phe) c.1574A>T (p.Tyr525Phe) | dbSNP gnomAD v4 |
| 7 | g.75985986A= | CA1718180464 | POR | c.1508A= (p.Tyr503=) c.1634A= (p.Tyr545=) c.1733A= (p.Tyr578=) c.*109-74A= (n.*109-74A=) c.947A= (p.Tyr316=) c.1884A= c.*1038A= (n.*1038A=) n.344A= c.1787A= (p.Tyr596=) c.1583A= (p.Tyr528=) c.1724A= (p.Tyr575=) c.1778A= (p.Tyr593=) c.1574A= (p.Tyr525=) | dbSNP |