Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.43091563del | CA2580094259 | BRCA1 | n.4034del c.3970del (p.Met1324Ter) c.3844del (p.Met1282Ter) c.3967del (p.Met1323Ter) c.3892del (p.Met1298Ter) c.785-529del (n.785-529del) c.647-529del (n.647-529del) c.3082del (p.Met1028Ter) c.3847del (p.Met1283Ter) c.3829del (p.Met1277Ter) c.665-529del (n.665-529del) c.707-529del (n.707-529del) c.291del c.671-529del (n.671-529del) c.*3753del (n.*3753del) c.264del c.788-529del (n.788-529del) c.410-529del (n.410-529del) c.413-529del (n.413-529del) c.5-27610del (n.5-27610del) c.-43-17040del (n.-43-17040del) c.-99+33710del (n.-99+33710del) n.4106del n.4147del | ClinVar dbSNP |
17 | g.43091562_43091563del | CA002544 | BRCA1 | n.4033_4034del c.3969_3970del (p.Gln1323HisfsTer6) c.3843_3844del (p.Gln1281HisfsTer6) c.3966_3967del (p.Gln1322HisfsTer6) c.3891_3892del (p.Gln1297HisfsTer6) c.785-530_785-529del (n.785-530_785-529del) c.647-530_647-529del (n.647-530_647-529del) c.3081_3082del (p.Gln1027HisfsTer6) c.3846_3847del (p.Gln1282HisfsTer6) c.3828_3829del (p.Gln1276HisfsTer6) c.665-530_665-529del (n.665-530_665-529del) c.707-530_707-529del (n.707-530_707-529del) c.290_291del c.671-530_671-529del (n.671-530_671-529del) c.*3752_*3753del (n.*3752_*3753del) c.263_264del c.788-530_788-529del (n.788-530_788-529del) c.410-530_410-529del (n.410-530_410-529del) c.413-530_413-529del (n.413-530_413-529del) c.5-27611_5-27610del (n.5-27611_5-27610del) c.-43-17041_-43-17040del (n.-43-17041_-43-17040del) c.-99+33709_-99+33710del (n.-99+33709_-99+33710del) n.4105_4106del n.4146_4147del | ClinVar dbSNP |