Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32379856_32379857insTT | CA025952 | BRCA2 | c.9060_9061insTT (p.Glu3021LeufsTer8) c.*427_*428insTT (n.*427_*428insTT) c.8691_8692insTT (p.Glu2898LeufsTer8) c.*622_*623insTT (n.*622_*623insTT) c.9009_9010insTT (p.Glu3004LeufsTer8) c.1476_1477insTT (p.Glu493LeufsTer8) n.1187_1188insTT c.9068_9069insTT (n.9068_9069insTT) c.1938_1939insTT c.17_18insTT c.8964_8965insTT (p.Glu2989LeufsTer8) | ClinVar dbSNP |
13 | g.32379856dup | CA10589543 | BRCA2 | c.9060dup (p.Glu3021Ter) c.*427dup (n.*427dup) c.8691dup (p.Glu2898Ter) c.*622dup (n.*622dup) c.9009dup (p.Glu3004Ter) c.1476dup (p.Glu493Ter) n.1187dup c.9068dup (n.9068dup) c.1938dup c.17dup c.8964dup (p.Glu2989Ter) | ClinVar dbSNP |
13 | g.32379856T= | CA3200709088 | BRCA2 | c.9060T= (p.Ser3020=) c.*427T= (n.*427T=) c.8691T= (p.Ser2897=) c.*622T= (n.*622T=) c.9009T= (p.Ser3003=) c.1476T= (p.Ser492=) n.1187T= c.9068T= (n.9068T=) c.1938T= c.17T= c.8964T= (p.Ser2988=) | dbSNP dbSNP dbSNP |