| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.5721061T>C | CA203834 | RNF216 | c.1616A>G (p.Tyr539Cys) c.*733A>G (n.*733A>G) c.1445A>G (p.Tyr482Cys) c.311A>G (p.Tyr104Cys) n.1736+4263A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.5721061T>A | CA4148132 | RNF216 | c.1616A>T (p.Tyr539Phe) c.*733A>T (n.*733A>T) c.1445A>T (p.Tyr482Phe) c.311A>T (p.Tyr104Phe) n.1736+4263A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |