| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.113171786G>A | CA7061137 | PCID2,PROZ | c.950G>A (p.Arg317His) c.884G>A (p.Arg295His) c.1094G>A (p.Arg365His) c.1085G>A (p.Arg362His) c.889+61G>A (n.889+61G>A) n.2237C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113171786G>C | CA7061138 | PCID2,PROZ | c.950G>C (p.Arg317Pro) c.884G>C (p.Arg295Pro) c.1094G>C (p.Arg365Pro) c.1085G>C (p.Arg362Pro) c.889+61G>C (n.889+61G>C) n.2237C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |