| 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 |
| 13 | g.113171786G= | CA2120155487 | PCID2,PROZ | c.950G= (p.Arg317=) c.884G= (p.Arg295=) c.1094G= (p.Arg365=) c.1085G= (p.Arg362=) c.889+61G= (n.889+61G=) n.2237C= | dbSNP |
| 13 | g.113171786G>T | CA388793030 | PCID2,PROZ | c.950G>T (p.Arg317Leu) c.884G>T (p.Arg295Leu) c.1094G>T (p.Arg365Leu) c.1085G>T (p.Arg362Leu) c.889+61G>T (n.889+61G>T) n.2237C>A | dbSNP gnomAD v4 |