| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.186210589C>T | CA343721 | CYP4V2,KLKB1 | c.1526C>T (p.Pro509Leu) n.761C>T n.6224C>T c.201+1317C>T n.616C>T c.1523C>T (p.Pro508Leu) c.1130C>T (p.Pro377Leu) | ClinVar dbSNP |
| 4 | g.186210589C>G | CA358951182 | CYP4V2,KLKB1 | c.1526C>G (p.Pro509Arg) n.761C>G n.6224C>G c.201+1317C>G n.616C>G c.1523C>G (p.Pro508Arg) c.1130C>G (p.Pro377Arg) | ClinVar dbSNP |
| 4 | g.186210589C= | CA1519892102 | CYP4V2,KLKB1 | c.1526C= (p.Pro509=) n.761C= n.6224C= c.201+1317C= n.616C= c.1523C= (p.Pro508=) c.1130C= (p.Pro377=) | dbSNP |