| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.61793687A>C | CA336051 | BRIP1 | c.876T>G (p.Tyr292Ter) c.1383T>G (p.Tyr461Ter) c.*809T>G (n.*809T>G) n.3124T>G c.1161T>G (p.Tyr387Ter) c.900T>G (p.Tyr300Ter) c.840T>G (p.Tyr280Ter) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 17 | g.61793687A>G | CA289751 | BRIP1 | c.876T>C (p.Tyr292=) c.1383T>C (p.Tyr461=) c.*809T>C (n.*809T>C) n.3124T>C c.1161T>C (p.Tyr387=) c.900T>C (p.Tyr300=) c.840T>C (p.Tyr280=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.61793687A>T | CA400482234 | BRIP1 | c.876T>A (p.Tyr292Ter) c.1383T>A (p.Tyr461Ter) c.*809T>A (n.*809T>A) n.3124T>A c.1161T>A (p.Tyr387Ter) c.900T>A (p.Tyr300Ter) c.840T>A (p.Tyr280Ter) | dbSNP |
| 17 | g.61793687A= | CA2269176547 | BRIP1 | c.876T= (p.Tyr292=) c.1383T= (p.Tyr461=) c.*809T= (n.*809T=) n.3124T= c.1161T= (p.Tyr387=) c.900T= (p.Tyr300=) c.840T= (p.Tyr280=) | dbSNP |