| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.127428892G>C | CA114387 | PROC | c.1332G>C (p.Trp444Cys) c.656G>C c.1434G>C (p.Trp478Cys) c.1515G>C (p.Trp505Cys) c.1497G>C (p.Trp499Cys) c.1395G>C (p.Trp465Cys) n.1332-628C>G c.1575G>C (p.Trp525Cys) c.1677G>C (p.Trp559Cys) c.1617G>C (p.Trp539Cys) n.3607-628C>G n.4043-628C>G c.1500G>C (p.Trp500Cys) c.1518G>C (p.Trp506Cys) c.1275G>C (p.Trp425Cys) c.1308G>C (p.Trp436Cys) c.1326G>C (p.Trp442Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.127428892G= | CA1286884704 | PROC | c.1332G= (p.Trp444=) c.656G= c.1434G= (p.Trp478=) c.1515G= (p.Trp505=) c.1497G= (p.Trp499=) c.1395G= (p.Trp465=) n.1332-628C= c.1575G= (p.Trp525=) c.1677G= (p.Trp559=) c.1617G= (p.Trp539=) n.3607-628C= n.4043-628C= c.1500G= (p.Trp500=) c.1518G= (p.Trp506=) c.1275G= (p.Trp425=) c.1308G= (p.Trp436=) c.1326G= (p.Trp442=) | dbSNP |