| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.113160151G>C | CA388797992 | PROZ | c.274G>C (p.Glu92Gln) c.208G>C (p.Glu70Gln) c.418G>C (p.Glu140Gln) c.409G>C (p.Glu137Gln) n.395G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.113160151G>T | CA7060850 | PROZ | c.274G>T (p.Glu92Ter) c.208G>T (p.Glu70Ter) c.418G>T (p.Glu140Ter) c.409G>T (p.Glu137Ter) n.395G>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 13 | g.113160151G>A | CA256481285 | PROZ | c.274G>A (p.Glu92Lys) c.208G>A (p.Glu70Lys) c.418G>A (p.Glu140Lys) c.409G>A (p.Glu137Lys) n.395G>A | dbSNP |