| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43084852_43094147del | CA645369660 | BRCA1 | c.1385_4186-2276del c.1259_4060-2276del c.1382_4183-2279del c.1307_4108-2276del c.784+598_874-2276del c.646+598_736-2276del c.497_3298-2276del c.1262_4063-2276del c.1244_4045-2276del c.664+598_754-2279del c.706+598_796-2276del c.670+1700_760-2276del c.*1168_*3969-2276del c.787+598_877-2276del c.409+598_499-2276del c.412+598_502-2276del c.5-30195_5-20900del (n.5-30195_5-20900del) c.-43-19625_-43-10330del (n.-43-19625_-43-10330del) c.-99+31125_-98-34661del (n.-99+31125_-98-34661del) n.1521_4322-2276del n.1562_4363-2276del | ClinVar |
| 17 | g.43090942_43094828del | CA2499224437 | BRCA1 | c.705_4185+4del c.579_4059+4del c.702_4182+4del c.627_4107+4del c.702_873+4del c.564_735+4del c.-184_3297+4del c.582_4062+4del c.564_4044+4del c.582_753+4del c.624_795+4del c.670+1020_759+4del c.*488_*3968+4del c.705_876+4del c.327_498+4del c.330_501+4del c.4+30356_5-26989del (n.4+30356_5-26989del) c.-43-20305_-43-16419del (n.-43-20305_-43-16419del) c.-99+30445_-99+34331del (n.-99+30445_-99+34331del) n.841_4321+4del n.882_4362+4del | ClinVar |
| 17 | g.43090946_43097291del | CA2580061395 | BRCA1 | c.549_4185+1del c.545-2428_4059+1del c.546_4182+1del c.471_4107+1del c.546_873+1del c.408_735+1del c.-218-2428_3297+1del c.548-2428_4062+1del c.408_4044+1del c.548-2428_753+1del c.468_795+1del c.549_759+1del c.*332_*3968+1del c.549_876+1del c.293-2428_498+1del c.296-2428_501+1del c.4+27894_5-26992del (n.4+27894_5-26992del) c.-43-22767_-43-16422del (n.-43-22767_-43-16422del) c.-99+27983_-99+34328del (n.-99+27983_-99+34328del) n.685_4321+1del n.726_4362+1del | ClinVar |
| 17 | g.43091435_43094858dup | CA2579756134 | BRCA1 | n.738_4161dup c.674_4096+1dup c.548_3970+1dup c.671_4093+1dup c.596_4018+1dup c.671_785-402dup c.533_647-402dup c.-215_3208+1dup c.551_3973+1dup c.533_3955+1dup c.551_665-402dup c.593_707-402dup c.670+989_671-402dup (n.670+989_671-402dup) c.674_4097dup (p.Ile1367LeufsTer2) c.*457_*3879+1dup c.674_788-402dup c.296_410-402dup c.299_413-402dup c.4+30325_5-27483dup (n.4+30325_5-27483dup) c.-43-20336_-43-16913dup (n.-43-20336_-43-16913dup) c.-99+30414_-99+33837dup (n.-99+30414_-99+33837dup) n.810_4232+1dup n.851_4273+1dup | |
| 17 | g.43091435_43094859dup | CA2579756133 | BRCA1 | n.736_4160dup c.672_4096dup (p.Gly1366ValfsTer10) c.546_3970dup (p.Gly1324ValfsTer10) c.669_4093dup (p.Gly1365ValfsTer10) c.594_4018dup (p.Gly1340ValfsTer10) c.669_785-403dup c.531_647-403dup c.-217_3208dup (p.Gly1070ValfsTer10) c.549_3973dup (p.Gly1325ValfsTer10) c.531_3955dup (p.Gly1319ValfsTer10) c.549_665-403dup c.591_707-403dup c.670+987_671-403dup (n.670+987_671-403dup) c.*455_*3879dup (n.*455_*3879dup) c.672_788-403dup c.294_410-403dup c.297_413-403dup c.4+30323_5-27484dup (n.4+30323_5-27484dup) c.-43-20338_-43-16914dup (n.-43-20338_-43-16914dup) c.-99+30412_-99+33836dup (n.-99+30412_-99+33836dup) n.808_4232dup n.849_4273dup | |
| 17 | g.43091437_43094862del | CA2580618251 | BRCA1 | n.735_4160del c.671_4096del c.545_3970del c.668_4093del c.593_4018del c.668_785-403del c.530_647-403del c.-218_3208del c.548_3973del c.530_3955del c.548_665-403del c.590_707-403del c.670+986_671-403del (n.670+986_671-403del) c.*454_*3879del c.671_788-403del c.293_410-403del c.296_413-403del c.4+30322_5-27484del (n.4+30322_5-27484del) c.-43-20339_-43-16914del (n.-43-20339_-43-16914del) c.-99+30411_-99+33836del (n.-99+30411_-99+33836del) n.807_4232del n.848_4273del | |
| 17 | g.43091633_43094861del | CA2580618250 | BRCA1 | n.736_3964del c.672_3900del c.546_3774del c.669_3897del c.594_3822del c.669_785-599del c.531_647-599del c.-217_3012del c.549_3777del c.531_3759del c.549_665-599del c.591_707-599del c.670+987_671-599del (n.670+987_671-599del) c.*455_*3683del c.672_788-599del c.294_410-599del c.297_413-599del c.4+30323_5-27680del (n.4+30323_5-27680del) c.-43-20338_-43-17110del (n.-43-20338_-43-17110del) c.-99+30412_-99+33640del (n.-99+30412_-99+33640del) n.808_4036del n.849_4077del | |
| 17 | g.43093670_43093883delinsGAATATGCCTGGTAGAAGACTTCCTCCTCAGCCTATTCTTTTTAGGTGCTTTTGAATTGTGGATATTTAATTCGAGTTCCATATTGCTTATACTGCTGCTTATAGGTTCAGCTTTCGTTTTGAAAGCAGATTCTTTTTCGAGTGATTCTATTGGGTTAGGATTTTTCTCATTCTGAATAGAATCACCTTTTGTTTTATTCTCATGACCACTATT | CA2260784207 | BRCA1 | n.1712_1925delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC c.1648_1861delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC (p.Asn550=) c.1522_1735delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC (p.Asn508=) c.1645_1858delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC (p.Asn549=) c.1570_1783delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC (p.Asn524=) c.784+861_784+1074delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC (n.784+861_784+1074delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC) c.646+861_646+1074delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC (n.646+861_646+1074delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC) c.760_973delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC (p.Asn254=) c.1525_1738delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC (p.Asn509=) c.1507_1720delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC (p.Asn503=) c.664+861_664+1074delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC (n.664+861_664+1074delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC) c.706+861_706+1074delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC (n.706+861_706+1074delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC) c.670+1963_670+2176delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC (n.670+1963_670+2176delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC) c.999_1212delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC c.*1431_*1644delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC (n.*1431_*1644delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC) c.787+861_787+1074delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC (n.787+861_787+1074delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC) c.409+861_409+1074delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC (n.409+861_409+1074delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC) c.412+861_412+1074delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC (n.412+861_412+1074delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC) c.5-29932_5-29719delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC (n.5-29932_5-29719delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC) c.-43-19362_-43-19149delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC (n.-43-19362_-43-19149delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC) c.-99+31388_-99+31601delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC (n.-99+31388_-99+31601delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC) n.1784_1997delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC n.1825_2038delinsAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATTCAGAATGAGAAAAATCCTAACCCAATAGAATCACTCGAAAAAGAATCTGCTTTCAAAACGAAAGCTGAACCTATAAGCAGCAGTATAAGCAATATGGAACTCGAATTAAATATCCACAATTCAAAAGCACCTAAAAAGAATAGGCTGAGGAGGAAGTCTTCTACCAGGCATATTC | |
| 17 | g.43093672_43093884del | CA001089 | BRCA1 | n.1712_1924del c.1648_1860del (p.Asn550_Ile620del) c.1522_1734del (p.Asn508_Ile578del) c.1645_1857del (p.Asn549_Ile619del) c.1570_1782del (p.Asn524_Ile594del) c.784+861_784+1073del (n.784+861_784+1073del) c.646+861_646+1073del (n.646+861_646+1073del) c.760_972del (p.Asn254_Ile324del) c.1525_1737del (p.Asn509_Ile579del) c.1507_1719del (p.Asn503_Ile573del) c.664+861_664+1073del (n.664+861_664+1073del) c.706+861_706+1073del (n.706+861_706+1073del) c.670+1963_670+2175del (n.670+1963_670+2175del) c.999_1211del c.*1431_*1643del (n.*1431_*1643del) c.787+861_787+1073del (n.787+861_787+1073del) c.409+861_409+1073del (n.409+861_409+1073del) c.412+861_412+1073del (n.412+861_412+1073del) c.5-29932_5-29720del (n.5-29932_5-29720del) c.-43-19362_-43-19150del (n.-43-19362_-43-19150del) c.-99+31388_-99+31600del (n.-99+31388_-99+31600del) n.1784_1996del n.1825_2037del | ClinVar dbSNP |
| 17 | g.43093751_43094887del | CA10602596 | BRCA1 | n.735-26_1845del c.671-26_1781del c.545-26_1655del c.668-26_1778del c.593-26_1703del c.668-26_784+994del c.530-26_646+994del c.-218-26_893del c.548-26_1658del c.530-26_1640del c.548-26_664+994del c.590-26_706+994del c.670+960_670+2096del (n.670+960_670+2096del) c.22-26_1132del c.*454-26_*1564del c.671-26_787+994del c.293-26_409+994del c.296-26_412+994del c.4+30296_5-29799del (n.4+30296_5-29799del) c.-43-20365_-43-19229del (n.-43-20365_-43-19229del) c.-99+30385_-99+31521del (n.-99+30385_-99+31521del) n.807-26_1917del n.848-26_1958del | ClinVar |
| 17 | g.43093797_43093967del | CA2697554272 | BRCA1 | n.1629_1799del c.1565_1735del (p.Asp522_Ser578del) c.1439_1609del (p.Asp480_Ser536del) c.1562_1732del (p.Asp521_Ser577del) c.1487_1657del (p.Asp496_Ser552del) c.784+778_784+948del (n.784+778_784+948del) c.646+778_646+948del (n.646+778_646+948del) c.677_847del (p.Asp226_Ser282del) c.1442_1612del (p.Asp481_Ser537del) c.1424_1594del (p.Asp475_Ser531del) c.664+778_664+948del (n.664+778_664+948del) c.706+778_706+948del (n.706+778_706+948del) c.670+1880_670+2050del (n.670+1880_670+2050del) c.916_1086del c.*1348_*1518del (n.*1348_*1518del) c.787+778_787+948del (n.787+778_787+948del) c.409+778_409+948del (n.409+778_409+948del) c.412+778_412+948del (n.412+778_412+948del) c.5-30015_5-29845del (n.5-30015_5-29845del) c.-43-19445_-43-19275del (n.-43-19445_-43-19275del) c.-99+31305_-99+31475del (n.-99+31305_-99+31475del) n.1701_1871del n.1742_1912del | ClinVar |
| 17 | g.43093842_43093887dup | CA2580094142 | BRCA1 | n.1708_1753dup c.1644_1689dup (p.Asn564TyrfsTer2) c.1518_1563dup (p.Asn522TyrfsTer2) c.1641_1686dup (p.Asn563TyrfsTer2) c.1566_1611dup (p.Asn538TyrfsTer2) c.784+857_784+902dup (n.784+857_784+902dup) c.646+857_646+902dup (n.646+857_646+902dup) c.756_801dup (p.Asn268TyrfsTer2) c.1521_1566dup (p.Asn523TyrfsTer2) c.1503_1548dup (p.Asn517TyrfsTer2) c.664+857_664+902dup (n.664+857_664+902dup) c.706+857_706+902dup (n.706+857_706+902dup) c.670+1959_670+2004dup (n.670+1959_670+2004dup) c.995_1040dup c.*1427_*1472dup (n.*1427_*1472dup) c.787+857_787+902dup (n.787+857_787+902dup) c.409+857_409+902dup (n.409+857_409+902dup) c.412+857_412+902dup (n.412+857_412+902dup) c.5-29936_5-29891dup (n.5-29936_5-29891dup) c.-43-19366_-43-19321dup (n.-43-19366_-43-19321dup) c.-99+31384_-99+31429dup (n.-99+31384_-99+31429dup) n.1780_1825dup n.1821_1866dup | ClinVar |
| 17 | g.43093845_43093894delinsAATAGAATCACCTTTTGTTTTATTCTCATGACCACTATTAGTAATATTCA | CA2260784337 | BRCA1 | n.1701_1750delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT c.1637_1686delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT (p.Met546=) c.1511_1560delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT (p.Met504=) c.1634_1683delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT (p.Met545=) c.1559_1608delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT (p.Met520=) c.784+850_784+899delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT (n.784+850_784+899delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT) c.646+850_646+899delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT (n.646+850_646+899delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT) c.749_798delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT (p.Met250=) c.1514_1563delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT (p.Met505=) c.1496_1545delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT (p.Met499=) c.664+850_664+899delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT (n.664+850_664+899delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT) c.706+850_706+899delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT (n.706+850_706+899delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT) c.670+1952_670+2001delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT (n.670+1952_670+2001delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT) c.988_1037delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT c.*1420_*1469delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT (n.*1420_*1469delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT) c.787+850_787+899delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT (n.787+850_787+899delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT) c.409+850_409+899delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT (n.409+850_409+899delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT) c.412+850_412+899delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT (n.412+850_412+899delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT) c.5-29943_5-29894delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT (n.5-29943_5-29894delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT) c.-43-19373_-43-19324delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT (n.-43-19373_-43-19324delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT) c.-99+31377_-99+31426delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT (n.-99+31377_-99+31426delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT) n.1773_1822delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT n.1814_1863delinsTGAATATTACTAATAGTGGTCATGAGAATAAAACAAAAGGTGATTCTATT | |
| 17 | g.43093846_43093894delinsCTTTC | CA10589925 | BRCA1 | n.1701_1749delinsGAAAG c.1637_1685delinsGAAAG (p.Met546ArgfsTer5) c.1511_1559delinsGAAAG (p.Met504ArgfsTer5) c.1634_1682delinsGAAAG (p.Met545ArgfsTer5) c.1559_1607delinsGAAAG (p.Met520ArgfsTer5) c.784+850_784+898delinsGAAAG (n.784+850_784+898delinsGAAAG) c.646+850_646+898delinsGAAAG (n.646+850_646+898delinsGAAAG) c.749_797delinsGAAAG (p.Met250ArgfsTer5) c.1514_1562delinsGAAAG (p.Met505ArgfsTer5) c.1496_1544delinsGAAAG (p.Met499ArgfsTer5) c.664+850_664+898delinsGAAAG (n.664+850_664+898delinsGAAAG) c.706+850_706+898delinsGAAAG (n.706+850_706+898delinsGAAAG) c.670+1952_670+2000delinsGAAAG (n.670+1952_670+2000delinsGAAAG) c.988_1036delinsGAAAG c.*1420_*1468delinsGAAAG (n.*1420_*1468delinsGAAAG) c.787+850_787+898delinsGAAAG (n.787+850_787+898delinsGAAAG) c.409+850_409+898delinsGAAAG (n.409+850_409+898delinsGAAAG) c.412+850_412+898delinsGAAAG (n.412+850_412+898delinsGAAAG) c.5-29943_5-29895delinsGAAAG (n.5-29943_5-29895delinsGAAAG) c.-43-19373_-43-19325delinsGAAAG (n.-43-19373_-43-19325delinsGAAAG) c.-99+31377_-99+31425delinsGAAAG (n.-99+31377_-99+31425delinsGAAAG) n.1773_1821delinsGAAAG n.1814_1862delinsGAAAG | ClinVar dbSNP |
| 17 | g.43093849_43093850del | CA2499224536 | BRCA1 | n.1746_1747del c.1682_1683del (p.Ser561TyrfsTer4) c.1556_1557del (p.Ser519TyrfsTer4) c.1679_1680del (p.Ser560TyrfsTer4) c.1604_1605del (p.Ser535TyrfsTer4) c.784+895_784+896del (n.784+895_784+896del) c.646+895_646+896del (n.646+895_646+896del) c.794_795del (p.Ser265TyrfsTer4) c.1559_1560del (p.Ser520TyrfsTer4) c.1541_1542del (p.Ser514TyrfsTer4) c.664+895_664+896del (n.664+895_664+896del) c.706+895_706+896del (n.706+895_706+896del) c.670+1997_670+1998del (n.670+1997_670+1998del) c.1033_1034del c.*1465_*1466del (n.*1465_*1466del) c.787+895_787+896del (n.787+895_787+896del) c.409+895_409+896del (n.409+895_409+896del) c.412+895_412+896del (n.412+895_412+896del) c.5-29898_5-29897del (n.5-29898_5-29897del) c.-43-19328_-43-19327del (n.-43-19328_-43-19327del) c.-99+31422_-99+31423del (n.-99+31422_-99+31423del) n.1818_1819del n.1859_1860del | |
| 17 | g.43093850A= | CA2260784347 | BRCA1 | n.1745T= c.1681T= (p.Ser561=) c.1555T= (p.Ser519=) c.1678T= (p.Ser560=) c.1603T= (p.Ser535=) c.784+894T= (n.784+894T=) c.646+894T= (n.646+894T=) c.793T= (p.Ser265=) c.1558T= (p.Ser520=) c.1540T= (p.Ser514=) c.664+894T= (n.664+894T=) c.706+894T= (n.706+894T=) c.670+1996T= (n.670+1996T=) c.1032T= c.*1464T= (n.*1464T=) c.787+894T= (n.787+894T=) c.409+894T= (n.409+894T=) c.412+894T= (n.412+894T=) c.5-29899T= (n.5-29899T=) c.-43-19329T= (n.-43-19329T=) c.-99+31421T= (n.-99+31421T=) n.1817T= n.1858T= | |
| 17 | g.43093850A>C | CA10598668 | BRCA1 | n.1745T>G c.1681T>G (p.Ser561Ala) c.1555T>G (p.Ser519Ala) c.1678T>G (p.Ser560Ala) c.1603T>G (p.Ser535Ala) c.784+894T>G (n.784+894T>G) c.646+894T>G (n.646+894T>G) c.793T>G (p.Ser265Ala) c.1558T>G (p.Ser520Ala) c.1540T>G (p.Ser514Ala) c.664+894T>G (n.664+894T>G) c.706+894T>G (n.706+894T>G) c.670+1996T>G (n.670+1996T>G) c.1032T>G c.*1464T>G (n.*1464T>G) c.787+894T>G (n.787+894T>G) c.409+894T>G (n.409+894T>G) c.412+894T>G (n.412+894T>G) c.5-29899T>G (n.5-29899T>G) c.-43-19329T>G (n.-43-19329T>G) c.-99+31421T>G (n.-99+31421T>G) n.1817T>G n.1858T>G | dbSNP |
| 17 | g.43093850A>G | CA10598669 | BRCA1 | n.1745T>C c.1681T>C (p.Ser561Pro) c.1555T>C (p.Ser519Pro) c.1678T>C (p.Ser560Pro) c.1603T>C (p.Ser535Pro) c.784+894T>C (n.784+894T>C) c.646+894T>C (n.646+894T>C) c.793T>C (p.Ser265Pro) c.1558T>C (p.Ser520Pro) c.1540T>C (p.Ser514Pro) c.664+894T>C (n.664+894T>C) c.706+894T>C (n.706+894T>C) c.670+1996T>C (n.670+1996T>C) c.1032T>C c.*1464T>C (n.*1464T>C) c.787+894T>C (n.787+894T>C) c.409+894T>C (n.409+894T>C) c.412+894T>C (n.412+894T>C) c.5-29899T>C (n.5-29899T>C) c.-43-19329T>C (n.-43-19329T>C) c.-99+31421T>C (n.-99+31421T>C) n.1817T>C n.1858T>C | dbSNP |
| 17 | g.43093850A>T | CA10598670 | BRCA1 | n.1745T>A c.1681T>A (p.Ser561Thr) c.1555T>A (p.Ser519Thr) c.1678T>A (p.Ser560Thr) c.1603T>A (p.Ser535Thr) c.784+894T>A (n.784+894T>A) c.646+894T>A (n.646+894T>A) c.793T>A (p.Ser265Thr) c.1558T>A (p.Ser520Thr) c.1540T>A (p.Ser514Thr) c.664+894T>A (n.664+894T>A) c.706+894T>A (n.706+894T>A) c.670+1996T>A (n.670+1996T>A) c.1032T>A c.*1464T>A (n.*1464T>A) c.787+894T>A (n.787+894T>A) c.409+894T>A (n.409+894T>A) c.412+894T>A (n.412+894T>A) c.5-29899T>A (n.5-29899T>A) c.-43-19329T>A (n.-43-19329T>A) c.-99+31421T>A (n.-99+31421T>A) n.1817T>A n.1858T>A | dbSNP |
| 17 | g.43093851del | CA2499224538 | BRCA1 | n.1745del c.1681del (p.Ser561LeufsTer11) c.1555del (p.Ser519LeufsTer11) c.1678del (p.Ser560LeufsTer11) c.1603del (p.Ser535LeufsTer11) c.784+894del (n.784+894del) c.646+894del (n.646+894del) c.793del (p.Ser265LeufsTer11) c.1558del (p.Ser520LeufsTer11) c.1540del (p.Ser514LeufsTer11) c.664+894del (n.664+894del) c.706+894del (n.706+894del) c.670+1996del (n.670+1996del) c.1032del c.*1464del (n.*1464del) c.787+894del (n.787+894del) c.409+894del (n.409+894del) c.412+894del (n.412+894del) c.5-29899del (n.5-29899del) c.-43-19329del (n.-43-19329del) c.-99+31421del (n.-99+31421del) n.1817del n.1858del | |
| 17 | g.43093851A>C | CA10598671 | BRCA1 | n.1744T>G c.1680T>G (p.Asp560Glu) c.1554T>G (p.Asp518Glu) c.1677T>G (p.Asp559Glu) c.1602T>G (p.Asp534Glu) c.784+893T>G (n.784+893T>G) c.646+893T>G (n.646+893T>G) c.792T>G (p.Asp264Glu) c.1557T>G (p.Asp519Glu) c.1539T>G (p.Asp513Glu) c.664+893T>G (n.664+893T>G) c.706+893T>G (n.706+893T>G) c.670+1995T>G (n.670+1995T>G) c.1031T>G c.*1463T>G (n.*1463T>G) c.787+893T>G (n.787+893T>G) c.409+893T>G (n.409+893T>G) c.412+893T>G (n.412+893T>G) c.5-29900T>G (n.5-29900T>G) c.-43-19330T>G (n.-43-19330T>G) c.-99+31420T>G (n.-99+31420T>G) n.1816T>G n.1857T>G | dbSNP |
| 17 | g.43093851A>G | CA500232877 | BRCA1 | n.1744T>C c.1680T>C (p.Asp560=) c.1554T>C (p.Asp518=) c.1677T>C (p.Asp559=) c.1602T>C (p.Asp534=) c.784+893T>C (n.784+893T>C) c.646+893T>C (n.646+893T>C) c.792T>C (p.Asp264=) c.1557T>C (p.Asp519=) c.1539T>C (p.Asp513=) c.664+893T>C (n.664+893T>C) c.706+893T>C (n.706+893T>C) c.670+1995T>C (n.670+1995T>C) c.1031T>C c.*1463T>C (n.*1463T>C) c.787+893T>C (n.787+893T>C) c.409+893T>C (n.409+893T>C) c.412+893T>C (n.412+893T>C) c.5-29900T>C (n.5-29900T>C) c.-43-19330T>C (n.-43-19330T>C) c.-99+31420T>C (n.-99+31420T>C) n.1816T>C n.1857T>C | ClinVar dbSNP gnomAD v4 |
| 17 | g.43093851A>T | CA10598672 | BRCA1 | n.1744T>A c.1680T>A (p.Asp560Glu) c.1554T>A (p.Asp518Glu) c.1677T>A (p.Asp559Glu) c.1602T>A (p.Asp534Glu) c.784+893T>A (n.784+893T>A) c.646+893T>A (n.646+893T>A) c.792T>A (p.Asp264Glu) c.1557T>A (p.Asp519Glu) c.1539T>A (p.Asp513Glu) c.664+893T>A (n.664+893T>A) c.706+893T>A (n.706+893T>A) c.670+1995T>A (n.670+1995T>A) c.1031T>A c.*1463T>A (n.*1463T>A) c.787+893T>A (n.787+893T>A) c.409+893T>A (n.409+893T>A) c.412+893T>A (n.412+893T>A) c.5-29900T>A (n.5-29900T>A) c.-43-19330T>A (n.-43-19330T>A) c.-99+31420T>A (n.-99+31420T>A) n.1816T>A n.1857T>A | dbSNP |
| 17 | g.43093852_43093875dup | CA2260784348 | BRCA1 | n.1721_1744dup c.1657_1680dup (p.Asp560_Ser561insHisGluAsnLysThrLysGlyAsp) c.1531_1554dup (p.Asp518_Ser519insHisGluAsnLysThrLysGlyAsp) c.1654_1677dup (p.Asp559_Ser560insHisGluAsnLysThrLysGlyAsp) c.1579_1602dup (p.Asp534_Ser535insHisGluAsnLysThrLysGlyAsp) c.784+870_784+893dup (n.784+870_784+893dup) c.646+870_646+893dup (n.646+870_646+893dup) c.769_792dup (p.Asp264_Ser265insHisGluAsnLysThrLysGlyAsp) c.1534_1557dup (p.Asp519_Ser520insHisGluAsnLysThrLysGlyAsp) c.1516_1539dup (p.Asp513_Ser514insHisGluAsnLysThrLysGlyAsp) c.664+870_664+893dup (n.664+870_664+893dup) c.706+870_706+893dup (n.706+870_706+893dup) c.670+1972_670+1995dup (n.670+1972_670+1995dup) c.1008_1031dup c.*1440_*1463dup (n.*1440_*1463dup) c.787+870_787+893dup (n.787+870_787+893dup) c.409+870_409+893dup (n.409+870_409+893dup) c.412+870_412+893dup (n.412+870_412+893dup) c.5-29923_5-29900dup (n.5-29923_5-29900dup) c.-43-19353_-43-19330dup (n.-43-19353_-43-19330dup) c.-99+31397_-99+31420dup (n.-99+31397_-99+31420dup) n.1793_1816dup n.1834_1857dup | ClinVar dbSNP gnomAD v4 |
| 17 | g.43093852T>A | CA10598673 | BRCA1 | n.1743A>T c.1679A>T (p.Asp560Val) c.1553A>T (p.Asp518Val) c.1676A>T (p.Asp559Val) c.1601A>T (p.Asp534Val) c.784+892A>T (n.784+892A>T) c.646+892A>T (n.646+892A>T) c.791A>T (p.Asp264Val) c.1556A>T (p.Asp519Val) c.1538A>T (p.Asp513Val) c.664+892A>T (n.664+892A>T) c.706+892A>T (n.706+892A>T) c.670+1994A>T (n.670+1994A>T) c.1030A>T c.*1462A>T (n.*1462A>T) c.787+892A>T (n.787+892A>T) c.409+892A>T (n.409+892A>T) c.412+892A>T (n.412+892A>T) c.5-29901A>T (n.5-29901A>T) c.-43-19331A>T (n.-43-19331A>T) c.-99+31419A>T (n.-99+31419A>T) n.1815A>T n.1856A>T | ClinVar dbSNP gnomAD v4 |
| 17 | g.43093852T>C | CA10598674 | BRCA1 | n.1743A>G c.1679A>G (p.Asp560Gly) c.1553A>G (p.Asp518Gly) c.1676A>G (p.Asp559Gly) c.1601A>G (p.Asp534Gly) c.784+892A>G (n.784+892A>G) c.646+892A>G (n.646+892A>G) c.791A>G (p.Asp264Gly) c.1556A>G (p.Asp519Gly) c.1538A>G (p.Asp513Gly) c.664+892A>G (n.664+892A>G) c.706+892A>G (n.706+892A>G) c.670+1994A>G (n.670+1994A>G) c.1030A>G c.*1462A>G (n.*1462A>G) c.787+892A>G (n.787+892A>G) c.409+892A>G (n.409+892A>G) c.412+892A>G (n.412+892A>G) c.5-29901A>G (n.5-29901A>G) c.-43-19331A>G (n.-43-19331A>G) c.-99+31419A>G (n.-99+31419A>G) n.1815A>G n.1856A>G | dbSNP |
| 17 | g.43093852T>G | CA10598675 | BRCA1 | n.1743A>C c.1679A>C (p.Asp560Ala) c.1553A>C (p.Asp518Ala) c.1676A>C (p.Asp559Ala) c.1601A>C (p.Asp534Ala) c.784+892A>C (n.784+892A>C) c.646+892A>C (n.646+892A>C) c.791A>C (p.Asp264Ala) c.1556A>C (p.Asp519Ala) c.1538A>C (p.Asp513Ala) c.664+892A>C (n.664+892A>C) c.706+892A>C (n.706+892A>C) c.670+1994A>C (n.670+1994A>C) c.1030A>C c.*1462A>C (n.*1462A>C) c.787+892A>C (n.787+892A>C) c.409+892A>C (n.409+892A>C) c.412+892A>C (n.412+892A>C) c.5-29901A>C (n.5-29901A>C) c.-43-19331A>C (n.-43-19331A>C) c.-99+31419A>C (n.-99+31419A>C) n.1815A>C n.1856A>C | dbSNP |
| 17 | g.43093852T= | CA2260784351 | BRCA1 | n.1743A= c.1679A= (p.Asp560=) c.1553A= (p.Asp518=) c.1676A= (p.Asp559=) c.1601A= (p.Asp534=) c.784+892A= (n.784+892A=) c.646+892A= (n.646+892A=) c.791A= (p.Asp264=) c.1556A= (p.Asp519=) c.1538A= (p.Asp513=) c.664+892A= (n.664+892A=) c.706+892A= (n.706+892A=) c.670+1994A= (n.670+1994A=) c.1030A= c.*1462A= (n.*1462A=) c.787+892A= (n.787+892A=) c.409+892A= (n.409+892A=) c.412+892A= (n.412+892A=) c.5-29901A= (n.5-29901A=) c.-43-19331A= (n.-43-19331A=) c.-99+31419A= (n.-99+31419A=) n.1815A= n.1856A= | |
| 17 | g.43093852_43093854delinsTCA | CA2260784350 | BRCA1 | n.1741_1743delinsTGA c.1677_1679delinsTGA (p.Gly559=) c.1551_1553delinsTGA (p.Gly517=) c.1674_1676delinsTGA (p.Gly558=) c.1599_1601delinsTGA (p.Gly533=) c.784+890_784+892delinsTGA (n.784+890_784+892delinsTGA) c.646+890_646+892delinsTGA (n.646+890_646+892delinsTGA) c.789_791delinsTGA (p.Gly263=) c.1554_1556delinsTGA (p.Gly518=) c.1536_1538delinsTGA (p.Gly512=) c.664+890_664+892delinsTGA (n.664+890_664+892delinsTGA) c.706+890_706+892delinsTGA (n.706+890_706+892delinsTGA) c.670+1992_670+1994delinsTGA (n.670+1992_670+1994delinsTGA) c.1028_1030delinsTGA c.*1460_*1462delinsTGA (n.*1460_*1462delinsTGA) c.787+890_787+892delinsTGA (n.787+890_787+892delinsTGA) c.409+890_409+892delinsTGA (n.409+890_409+892delinsTGA) c.412+890_412+892delinsTGA (n.412+890_412+892delinsTGA) c.5-29903_5-29901delinsTGA (n.5-29903_5-29901delinsTGA) c.-43-19333_-43-19331delinsTGA (n.-43-19333_-43-19331delinsTGA) c.-99+31417_-99+31419delinsTGA (n.-99+31417_-99+31419delinsTGA) n.1813_1815delinsTGA n.1854_1856delinsTGA | |
| 17 | g.43093853C>A | CA10598676 | BRCA1 | n.1742G>T c.1678G>T (p.Asp560Tyr) c.1552G>T (p.Asp518Tyr) c.1675G>T (p.Asp559Tyr) c.1600G>T (p.Asp534Tyr) c.784+891G>T (n.784+891G>T) c.646+891G>T (n.646+891G>T) c.790G>T (p.Asp264Tyr) c.1555G>T (p.Asp519Tyr) c.1537G>T (p.Asp513Tyr) c.664+891G>T (n.664+891G>T) c.706+891G>T (n.706+891G>T) c.670+1993G>T (n.670+1993G>T) c.1029G>T c.*1461G>T (n.*1461G>T) c.787+891G>T (n.787+891G>T) c.409+891G>T (n.409+891G>T) c.412+891G>T (n.412+891G>T) c.5-29902G>T (n.5-29902G>T) c.-43-19332G>T (n.-43-19332G>T) c.-99+31418G>T (n.-99+31418G>T) n.1814G>T n.1855G>T | dbSNP |
| 17 | g.43093853C>G | CA10598677 | BRCA1 | n.1742G>C c.1678G>C (p.Asp560His) c.1552G>C (p.Asp518His) c.1675G>C (p.Asp559His) c.1600G>C (p.Asp534His) c.784+891G>C (n.784+891G>C) c.646+891G>C (n.646+891G>C) c.790G>C (p.Asp264His) c.1555G>C (p.Asp519His) c.1537G>C (p.Asp513His) c.664+891G>C (n.664+891G>C) c.706+891G>C (n.706+891G>C) c.670+1993G>C (n.670+1993G>C) c.1029G>C c.*1461G>C (n.*1461G>C) c.787+891G>C (n.787+891G>C) c.409+891G>C (n.409+891G>C) c.412+891G>C (n.412+891G>C) c.5-29902G>C (n.5-29902G>C) c.-43-19332G>C (n.-43-19332G>C) c.-99+31418G>C (n.-99+31418G>C) n.1814G>C n.1855G>C | dbSNP |
| 17 | g.43093853C>T | CA10598678 | BRCA1 | n.1742G>A c.1678G>A (p.Asp560Asn) c.1552G>A (p.Asp518Asn) c.1675G>A (p.Asp559Asn) c.1600G>A (p.Asp534Asn) c.784+891G>A (n.784+891G>A) c.646+891G>A (n.646+891G>A) c.790G>A (p.Asp264Asn) c.1555G>A (p.Asp519Asn) c.1537G>A (p.Asp513Asn) c.664+891G>A (n.664+891G>A) c.706+891G>A (n.706+891G>A) c.670+1993G>A (n.670+1993G>A) c.1029G>A c.*1461G>A (n.*1461G>A) c.787+891G>A (n.787+891G>A) c.409+891G>A (n.409+891G>A) c.412+891G>A (n.412+891G>A) c.5-29902G>A (n.5-29902G>A) c.-43-19332G>A (n.-43-19332G>A) c.-99+31418G>A (n.-99+31418G>A) n.1814G>A n.1855G>A | dbSNP |
| 17 | g.43093854_43093855del | CA916080227 | BRCA1 | n.1741_1742del c.1677_1678del (p.Asp560PhefsTer5) c.1551_1552del (p.Asp518PhefsTer5) c.1674_1675del (p.Asp559PhefsTer5) c.1599_1600del (p.Asp534PhefsTer5) c.784+890_784+891del (n.784+890_784+891del) c.646+890_646+891del (n.646+890_646+891del) c.789_790del (p.Asp264PhefsTer5) c.1554_1555del (p.Asp519PhefsTer5) c.1536_1537del (p.Asp513PhefsTer5) c.664+890_664+891del (n.664+890_664+891del) c.706+890_706+891del (n.706+890_706+891del) c.670+1992_670+1993del (n.670+1992_670+1993del) c.1028_1029del c.*1460_*1461del (n.*1460_*1461del) c.787+890_787+891del (n.787+890_787+891del) c.409+890_409+891del (n.409+890_409+891del) c.412+890_412+891del (n.412+890_412+891del) c.5-29903_5-29902del (n.5-29903_5-29902del) c.-43-19333_-43-19332del (n.-43-19333_-43-19332del) c.-99+31417_-99+31418del (n.-99+31417_-99+31418del) n.1813_1814del n.1854_1855del | ClinVar dbSNP |
| 17 | g.43093854del | CA2499224539 | BRCA1 | n.1741del c.1677del (p.Asp560IlefsTer12) c.1551del (p.Asp518IlefsTer12) c.1674del (p.Asp559IlefsTer12) c.1599del (p.Asp534IlefsTer12) c.784+890del (n.784+890del) c.646+890del (n.646+890del) c.789del (p.Asp264IlefsTer12) c.1554del (p.Asp519IlefsTer12) c.1536del (p.Asp513IlefsTer12) c.664+890del (n.664+890del) c.706+890del (n.706+890del) c.670+1992del (n.670+1992del) c.1028del c.*1460del (n.*1460del) c.787+890del (n.787+890del) c.409+890del (n.409+890del) c.412+890del (n.412+890del) c.5-29903del (n.5-29903del) c.-43-19333del (n.-43-19333del) c.-99+31417del (n.-99+31417del) n.1813del n.1854del | ClinVar dbSNP |
| 17 | g.43093854A= | CA2260784355 | BRCA1 | n.1741T= c.1677T= (p.Gly559=) c.1551T= (p.Gly517=) c.1674T= (p.Gly558=) c.1599T= (p.Gly533=) c.784+890T= (n.784+890T=) c.646+890T= (n.646+890T=) c.789T= (p.Gly263=) c.1554T= (p.Gly518=) c.1536T= (p.Gly512=) c.664+890T= (n.664+890T=) c.706+890T= (n.706+890T=) c.670+1992T= (n.670+1992T=) c.1028T= c.*1460T= (n.*1460T=) c.787+890T= (n.787+890T=) c.409+890T= (n.409+890T=) c.412+890T= (n.412+890T=) c.5-29903T= (n.5-29903T=) c.-43-19333T= (n.-43-19333T=) c.-99+31417T= (n.-99+31417T=) n.1813T= n.1854T= | |
| 17 | g.43093854A>C | CA500233250 | BRCA1 | n.1741T>G c.1677T>G (p.Gly559=) c.1551T>G (p.Gly517=) c.1674T>G (p.Gly558=) c.1599T>G (p.Gly533=) c.784+890T>G (n.784+890T>G) c.646+890T>G (n.646+890T>G) c.789T>G (p.Gly263=) c.1554T>G (p.Gly518=) c.1536T>G (p.Gly512=) c.664+890T>G (n.664+890T>G) c.706+890T>G (n.706+890T>G) c.670+1992T>G (n.670+1992T>G) c.1028T>G c.*1460T>G (n.*1460T>G) c.787+890T>G (n.787+890T>G) c.409+890T>G (n.409+890T>G) c.412+890T>G (n.412+890T>G) c.5-29903T>G (n.5-29903T>G) c.-43-19333T>G (n.-43-19333T>G) c.-99+31417T>G (n.-99+31417T>G) n.1813T>G n.1854T>G | ClinVar dbSNP |
| 17 | g.43093854A>G | CA500233251 | BRCA1 | n.1741T>C c.1677T>C (p.Gly559=) c.1551T>C (p.Gly517=) c.1674T>C (p.Gly558=) c.1599T>C (p.Gly533=) c.784+890T>C (n.784+890T>C) c.646+890T>C (n.646+890T>C) c.789T>C (p.Gly263=) c.1554T>C (p.Gly518=) c.1536T>C (p.Gly512=) c.664+890T>C (n.664+890T>C) c.706+890T>C (n.706+890T>C) c.670+1992T>C (n.670+1992T>C) c.1028T>C c.*1460T>C (n.*1460T>C) c.787+890T>C (n.787+890T>C) c.409+890T>C (n.409+890T>C) c.412+890T>C (n.412+890T>C) c.5-29903T>C (n.5-29903T>C) c.-43-19333T>C (n.-43-19333T>C) c.-99+31417T>C (n.-99+31417T>C) n.1813T>C n.1854T>C | dbSNP |
| 17 | g.43093854A>T | CA500233252 | BRCA1 | n.1741T>A c.1677T>A (p.Gly559=) c.1551T>A (p.Gly517=) c.1674T>A (p.Gly558=) c.1599T>A (p.Gly533=) c.784+890T>A (n.784+890T>A) c.646+890T>A (n.646+890T>A) c.789T>A (p.Gly263=) c.1554T>A (p.Gly518=) c.1536T>A (p.Gly512=) c.664+890T>A (n.664+890T>A) c.706+890T>A (n.706+890T>A) c.670+1992T>A (n.670+1992T>A) c.1028T>A c.*1460T>A (n.*1460T>A) c.787+890T>A (n.787+890T>A) c.409+890T>A (n.409+890T>A) c.412+890T>A (n.412+890T>A) c.5-29903T>A (n.5-29903T>A) c.-43-19333T>A (n.-43-19333T>A) c.-99+31417T>A (n.-99+31417T>A) n.1813T>A n.1854T>A | dbSNP gnomAD v4 |
| 17 | g.43093854_43093855delinsAC | CA2260784354 | BRCA1 | n.1740_1741delinsGT c.1676_1677delinsGT (p.Gly559=) c.1550_1551delinsGT (p.Gly517=) c.1673_1674delinsGT (p.Gly558=) c.1598_1599delinsGT (p.Gly533=) c.784+889_784+890delinsGT (n.784+889_784+890delinsGT) c.646+889_646+890delinsGT (n.646+889_646+890delinsGT) c.788_789delinsGT (p.Gly263=) c.1553_1554delinsGT (p.Gly518=) c.1535_1536delinsGT (p.Gly512=) c.664+889_664+890delinsGT (n.664+889_664+890delinsGT) c.706+889_706+890delinsGT (n.706+889_706+890delinsGT) c.670+1991_670+1992delinsGT (n.670+1991_670+1992delinsGT) c.1027_1028delinsGT c.*1459_*1460delinsGT (n.*1459_*1460delinsGT) c.787+889_787+890delinsGT (n.787+889_787+890delinsGT) c.409+889_409+890delinsGT (n.409+889_409+890delinsGT) c.412+889_412+890delinsGT (n.412+889_412+890delinsGT) c.5-29904_5-29903delinsGT (n.5-29904_5-29903delinsGT) c.-43-19334_-43-19333delinsGT (n.-43-19334_-43-19333delinsGT) c.-99+31416_-99+31417delinsGT (n.-99+31416_-99+31417delinsGT) n.1812_1813delinsGT n.1853_1854delinsGT | |
| 17 | g.43093855C>A | CA001104 | BRCA1 | n.1740G>T c.1676G>T (p.Gly559Val) c.1550G>T (p.Gly517Val) c.1673G>T (p.Gly558Val) c.1598G>T (p.Gly533Val) c.784+889G>T (n.784+889G>T) c.646+889G>T (n.646+889G>T) c.788G>T (p.Gly263Val) c.1553G>T (p.Gly518Val) c.1535G>T (p.Gly512Val) c.664+889G>T (n.664+889G>T) c.706+889G>T (n.706+889G>T) c.670+1991G>T (n.670+1991G>T) c.1027G>T c.*1459G>T (n.*1459G>T) c.787+889G>T (n.787+889G>T) c.409+889G>T (n.409+889G>T) c.412+889G>T (n.412+889G>T) c.5-29904G>T (n.5-29904G>T) c.-43-19334G>T (n.-43-19334G>T) c.-99+31416G>T (n.-99+31416G>T) n.1812G>T n.1853G>T | ClinVar dbSNP |
| 17 | g.43093855C= | CA2260784356 | BRCA1 | n.1740G= c.1676G= (p.Gly559=) c.1550G= (p.Gly517=) c.1673G= (p.Gly558=) c.1598G= (p.Gly533=) c.784+889G= (n.784+889G=) c.646+889G= (n.646+889G=) c.788G= (p.Gly263=) c.1553G= (p.Gly518=) c.1535G= (p.Gly512=) c.664+889G= (n.664+889G=) c.706+889G= (n.706+889G=) c.670+1991G= (n.670+1991G=) c.1027G= c.*1459G= (n.*1459G=) c.787+889G= (n.787+889G=) c.409+889G= (n.409+889G=) c.412+889G= (n.412+889G=) c.5-29904G= (n.5-29904G=) c.-43-19334G= (n.-43-19334G=) c.-99+31416G= (n.-99+31416G=) n.1812G= n.1853G= | |
| 17 | g.43093855C>G | CA10598679 | BRCA1 | n.1740G>C c.1676G>C (p.Gly559Ala) c.1550G>C (p.Gly517Ala) c.1673G>C (p.Gly558Ala) c.1598G>C (p.Gly533Ala) c.784+889G>C (n.784+889G>C) c.646+889G>C (n.646+889G>C) c.788G>C (p.Gly263Ala) c.1553G>C (p.Gly518Ala) c.1535G>C (p.Gly512Ala) c.664+889G>C (n.664+889G>C) c.706+889G>C (n.706+889G>C) c.670+1991G>C (n.670+1991G>C) c.1027G>C c.*1459G>C (n.*1459G>C) c.787+889G>C (n.787+889G>C) c.409+889G>C (n.409+889G>C) c.412+889G>C (n.412+889G>C) c.5-29904G>C (n.5-29904G>C) c.-43-19334G>C (n.-43-19334G>C) c.-99+31416G>C (n.-99+31416G>C) n.1812G>C n.1853G>C | dbSNP |
| 17 | g.43093855C>T | CA10598680 | BRCA1 | n.1740G>A c.1676G>A (p.Gly559Asp) c.1550G>A (p.Gly517Asp) c.1673G>A (p.Gly558Asp) c.1598G>A (p.Gly533Asp) c.784+889G>A (n.784+889G>A) c.646+889G>A (n.646+889G>A) c.788G>A (p.Gly263Asp) c.1553G>A (p.Gly518Asp) c.1535G>A (p.Gly512Asp) c.664+889G>A (n.664+889G>A) c.706+889G>A (n.706+889G>A) c.670+1991G>A (n.670+1991G>A) c.1027G>A c.*1459G>A (n.*1459G>A) c.787+889G>A (n.787+889G>A) c.409+889G>A (n.409+889G>A) c.412+889G>A (n.412+889G>A) c.5-29904G>A (n.5-29904G>A) c.-43-19334G>A (n.-43-19334G>A) c.-99+31416G>A (n.-99+31416G>A) n.1812G>A n.1853G>A | ClinVar dbSNP gnomAD v4 |
| 17 | g.43093856del | CA658656759 | BRCA1 | n.1740del c.1676del (p.Gly559ValfsTer13) c.1550del (p.Gly517ValfsTer13) c.1673del (p.Gly558ValfsTer13) c.1598del (p.Gly533ValfsTer13) c.784+889del (n.784+889del) c.646+889del (n.646+889del) c.788del (p.Gly263ValfsTer13) c.1553del (p.Gly518ValfsTer13) c.1535del (p.Gly512ValfsTer13) c.664+889del (n.664+889del) c.706+889del (n.706+889del) c.670+1991del (n.670+1991del) c.1027del c.*1459del (n.*1459del) c.787+889del (n.787+889del) c.409+889del (n.409+889del) c.412+889del (n.412+889del) c.5-29904del (n.5-29904del) c.-43-19334del (n.-43-19334del) c.-99+31416del (n.-99+31416del) n.1812del n.1853del | ClinVar dbSNP |
| 17 | g.43093856C>A | CA10598681 | BRCA1 | n.1739G>T c.1675G>T (p.Gly559Cys) c.1549G>T (p.Gly517Cys) c.1672G>T (p.Gly558Cys) c.1597G>T (p.Gly533Cys) c.784+888G>T (n.784+888G>T) c.646+888G>T (n.646+888G>T) c.787G>T (p.Gly263Cys) c.1552G>T (p.Gly518Cys) c.1534G>T (p.Gly512Cys) c.664+888G>T (n.664+888G>T) c.706+888G>T (n.706+888G>T) c.670+1990G>T (n.670+1990G>T) c.1026G>T c.*1458G>T (n.*1458G>T) c.787+888G>T (n.787+888G>T) c.409+888G>T (n.409+888G>T) c.412+888G>T (n.412+888G>T) c.5-29905G>T (n.5-29905G>T) c.-43-19335G>T (n.-43-19335G>T) c.-99+31415G>T (n.-99+31415G>T) n.1811G>T n.1852G>T | dbSNP |
| 17 | g.43093856C= | CA2260784361 | BRCA1 | n.1739G= c.1675G= (p.Gly559=) c.1549G= (p.Gly517=) c.1672G= (p.Gly558=) c.1597G= (p.Gly533=) c.784+888G= (n.784+888G=) c.646+888G= (n.646+888G=) c.787G= (p.Gly263=) c.1552G= (p.Gly518=) c.1534G= (p.Gly512=) c.664+888G= (n.664+888G=) c.706+888G= (n.706+888G=) c.670+1990G= (n.670+1990G=) c.1026G= c.*1458G= (n.*1458G=) c.787+888G= (n.787+888G=) c.409+888G= (n.409+888G=) c.412+888G= (n.412+888G=) c.5-29905G= (n.5-29905G=) c.-43-19335G= (n.-43-19335G=) c.-99+31415G= (n.-99+31415G=) n.1811G= n.1852G= | |
| 17 | g.43093856C>G | CA10598682 | BRCA1 | n.1739G>C c.1675G>C (p.Gly559Arg) c.1549G>C (p.Gly517Arg) c.1672G>C (p.Gly558Arg) c.1597G>C (p.Gly533Arg) c.784+888G>C (n.784+888G>C) c.646+888G>C (n.646+888G>C) c.787G>C (p.Gly263Arg) c.1552G>C (p.Gly518Arg) c.1534G>C (p.Gly512Arg) c.664+888G>C (n.664+888G>C) c.706+888G>C (n.706+888G>C) c.670+1990G>C (n.670+1990G>C) c.1026G>C c.*1458G>C (n.*1458G>C) c.787+888G>C (n.787+888G>C) c.409+888G>C (n.409+888G>C) c.412+888G>C (n.412+888G>C) c.5-29905G>C (n.5-29905G>C) c.-43-19335G>C (n.-43-19335G>C) c.-99+31415G>C (n.-99+31415G>C) n.1811G>C n.1852G>C | dbSNP |
| 17 | g.43093856C>T | CA10598683 | BRCA1 | n.1739G>A c.1675G>A (p.Gly559Ser) c.1549G>A (p.Gly517Ser) c.1672G>A (p.Gly558Ser) c.1597G>A (p.Gly533Ser) c.784+888G>A (n.784+888G>A) c.646+888G>A (n.646+888G>A) c.787G>A (p.Gly263Ser) c.1552G>A (p.Gly518Ser) c.1534G>A (p.Gly512Ser) c.664+888G>A (n.664+888G>A) c.706+888G>A (n.706+888G>A) c.670+1990G>A (n.670+1990G>A) c.1026G>A c.*1458G>A (n.*1458G>A) c.787+888G>A (n.787+888G>A) c.409+888G>A (n.409+888G>A) c.412+888G>A (n.412+888G>A) c.5-29905G>A (n.5-29905G>A) c.-43-19335G>A (n.-43-19335G>A) c.-99+31415G>A (n.-99+31415G>A) n.1811G>A n.1852G>A | ClinVar dbSNP gnomAD v4 |
| 17 | g.43093856_43093858delinsCTT | CA2260784359 | BRCA1 | n.1737_1739delinsAAG c.1673_1675delinsAAG (p.Lys558=) c.1547_1549delinsAAG (p.Lys516=) c.1670_1672delinsAAG (p.Lys557=) c.1595_1597delinsAAG (p.Lys532=) c.784+886_784+888delinsAAG (n.784+886_784+888delinsAAG) c.646+886_646+888delinsAAG (n.646+886_646+888delinsAAG) c.785_787delinsAAG (p.Lys262=) c.1550_1552delinsAAG (p.Lys517=) c.1532_1534delinsAAG (p.Lys511=) c.664+886_664+888delinsAAG (n.664+886_664+888delinsAAG) c.706+886_706+888delinsAAG (n.706+886_706+888delinsAAG) c.670+1988_670+1990delinsAAG (n.670+1988_670+1990delinsAAG) c.1024_1026delinsAAG c.*1456_*1458delinsAAG (n.*1456_*1458delinsAAG) c.787+886_787+888delinsAAG (n.787+886_787+888delinsAAG) c.409+886_409+888delinsAAG (n.409+886_409+888delinsAAG) c.412+886_412+888delinsAAG (n.412+886_412+888delinsAAG) c.5-29907_5-29905delinsAAG (n.5-29907_5-29905delinsAAG) c.-43-19337_-43-19335delinsAAG (n.-43-19337_-43-19335delinsAAG) c.-99+31413_-99+31415delinsAAG (n.-99+31413_-99+31415delinsAAG) n.1809_1811delinsAAG n.1850_1852delinsAAG | |
| 17 | g.43093856_43093861delinsCTTTTG | CA2260784360 | BRCA1 | n.1734_1739delinsCAAAAG c.1670_1675delinsCAAAAG (p.Thr557=) c.1544_1549delinsCAAAAG (p.Thr515=) c.1667_1672delinsCAAAAG (p.Thr556=) c.1592_1597delinsCAAAAG (p.Thr531=) c.784+883_784+888delinsCAAAAG (n.784+883_784+888delinsCAAAAG) c.646+883_646+888delinsCAAAAG (n.646+883_646+888delinsCAAAAG) c.782_787delinsCAAAAG (p.Thr261=) c.1547_1552delinsCAAAAG (p.Thr516=) c.1529_1534delinsCAAAAG (p.Thr510=) c.664+883_664+888delinsCAAAAG (n.664+883_664+888delinsCAAAAG) c.706+883_706+888delinsCAAAAG (n.706+883_706+888delinsCAAAAG) c.670+1985_670+1990delinsCAAAAG (n.670+1985_670+1990delinsCAAAAG) c.1021_1026delinsCAAAAG c.*1453_*1458delinsCAAAAG (n.*1453_*1458delinsCAAAAG) c.787+883_787+888delinsCAAAAG (n.787+883_787+888delinsCAAAAG) c.409+883_409+888delinsCAAAAG (n.409+883_409+888delinsCAAAAG) c.412+883_412+888delinsCAAAAG (n.412+883_412+888delinsCAAAAG) c.5-29910_5-29905delinsCAAAAG (n.5-29910_5-29905delinsCAAAAG) c.-43-19340_-43-19335delinsCAAAAG (n.-43-19340_-43-19335delinsCAAAAG) c.-99+31410_-99+31415delinsCAAAAG (n.-99+31410_-99+31415delinsCAAAAG) n.1806_1811delinsCAAAAG n.1847_1852delinsCAAAAG |