Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32332667_32332668insTTAG | CA011099 | BRCA2 | c.1189_1190insTTAG (p.Gln397LeufsTer25) c.820_821insTTAG (p.Gln274LeufsTer25) c.*968_*969insTTAG (n.*968_*969insTTAG) n.1387_1388insTTAG n.1189_1190insTTAG | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32332667_32332668insTTAT | CA10589075 | BRCA2 | c.1189_1190insTTAT (p.Gln397LeufsTer25) c.820_821insTTAT (p.Gln274LeufsTer25) c.*968_*969insTTAT (n.*968_*969insTTAT) n.1387_1388insTTAT n.1189_1190insTTAT | ClinVar dbSNP |