| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.127423319A>C | CA114428 | PROC | c.446A>C (p.His149Pro) c.31A>C c.548A>C (p.His183Pro) c.401-12A>C (n.401-12A>C) n.32A>C c.629A>C (p.His210Pro) c.611A>C (p.His204Pro) c.509A>C (p.His170Pro) c.689A>C (p.His230Pro) c.791A>C (p.His264Pro) c.731A>C (p.His244Pro) c.614A>C (p.His205Pro) c.632A>C (p.His211Pro) c.422A>C (p.His141Pro) c.440A>C (p.His147Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.127423319A>G | CA348399852 | PROC | c.446A>G (p.His149Arg) c.31A>G c.548A>G (p.His183Arg) c.401-12A>G (n.401-12A>G) n.32A>G c.629A>G (p.His210Arg) c.611A>G (p.His204Arg) c.509A>G (p.His170Arg) c.689A>G (p.His230Arg) c.791A>G (p.His264Arg) c.731A>G (p.His244Arg) c.614A>G (p.His205Arg) c.632A>G (p.His211Arg) c.422A>G (p.His141Arg) c.440A>G (p.His147Arg) | ClinVar dbSNP |
| 2 | g.127423319A= | CA1286882145 | PROC | c.446A= (p.His149=) c.31A= c.548A= (p.His183=) c.401-12A= (n.401-12A=) n.32A= c.629A= (p.His210=) c.611A= (p.His204=) c.509A= (p.His170=) c.689A= (p.His230=) c.791A= (p.His264=) c.731A= (p.His244=) c.614A= (p.His205=) c.632A= (p.His211=) c.422A= (p.His141=) c.440A= (p.His147=) | dbSNP |