| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.24499305A>T | CA370610747 | ADAM7,ADAM7-AS1,ADAM7-AS2 | c.1912A>T (p.Asn638Tyr) c.1228A>T (p.Asn410Tyr) n.79+49235T>A n.447-7145T>A c.1843-873A>T (n.1843-873A>T) | dbSNP |
| 8 | g.24499305A>C | CA4680467 | ADAM7,ADAM7-AS1,ADAM7-AS2 | c.1912A>C (p.Asn638His) c.1228A>C (p.Asn410His) n.79+49235T>G n.447-7145T>G c.1843-873A>C (n.1843-873A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |