UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.43093482_43093729del | CA2695226251 | BRCA1 | n.1866_2113del c.1802_2049del (p.His601ProfsTer3) c.1676_1923del (p.His559ProfsTer3) c.1799_2046del (p.His600ProfsTer3) c.1724_1971del (p.His575ProfsTer3) c.784+1015_784+1262del (n.784+1015_784+1262del) c.646+1015_646+1262del (n.646+1015_646+1262del) c.914_1161del (p.His305ProfsTer3) c.1679_1926del (p.His560ProfsTer3) c.1661_1908del (p.His554ProfsTer3) c.664+1015_664+1262del (n.664+1015_664+1262del) c.706+1015_706+1262del (n.706+1015_706+1262del) c.670+2117_670+2364del (n.670+2117_670+2364del) c.*1585_*1832del (n.*1585_*1832del) c.787+1015_787+1262del (n.787+1015_787+1262del) c.409+1015_409+1262del (n.409+1015_409+1262del) c.412+1015_412+1262del (n.412+1015_412+1262del) c.5-29778_5-29531del (n.5-29778_5-29531del) c.-43-19208_-43-18961del (n.-43-19208_-43-18961del) c.-99+31542_-99+31789del (n.-99+31542_-99+31789del) n.1938_2185del n.1979_2226del | |
| 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.43093697T>A | CA10598349 | BRCA1 | n.1898A>T c.1834A>T (p.Arg612Trp) c.1708A>T (p.Arg570Trp) c.1831A>T (p.Arg611Trp) c.1756A>T (p.Arg586Trp) c.784+1047A>T (n.784+1047A>T) c.646+1047A>T (n.646+1047A>T) c.946A>T (p.Arg316Trp) c.1711A>T (p.Arg571Trp) c.1693A>T (p.Arg565Trp) c.664+1047A>T (n.664+1047A>T) c.706+1047A>T (n.706+1047A>T) c.670+2149A>T (n.670+2149A>T) c.1185A>T c.*1617A>T (n.*1617A>T) c.787+1047A>T (n.787+1047A>T) c.409+1047A>T (n.409+1047A>T) c.412+1047A>T (n.412+1047A>T) c.5-29746A>T (n.5-29746A>T) c.-43-19176A>T (n.-43-19176A>T) c.-99+31574A>T (n.-99+31574A>T) n.1970A>T n.2011A>T | |
| 17 | g.43093697T>C | CA001196 | BRCA1 | n.1898A>G c.1834A>G (p.Arg612Gly) c.1708A>G (p.Arg570Gly) c.1831A>G (p.Arg611Gly) c.1756A>G (p.Arg586Gly) c.784+1047A>G (n.784+1047A>G) c.646+1047A>G (n.646+1047A>G) c.946A>G (p.Arg316Gly) c.1711A>G (p.Arg571Gly) c.1693A>G (p.Arg565Gly) c.664+1047A>G (n.664+1047A>G) c.706+1047A>G (n.706+1047A>G) c.670+2149A>G (n.670+2149A>G) c.1185A>G c.*1617A>G (n.*1617A>G) c.787+1047A>G (n.787+1047A>G) c.409+1047A>G (n.409+1047A>G) c.412+1047A>G (n.412+1047A>G) c.5-29746A>G (n.5-29746A>G) c.-43-19176A>G (n.-43-19176A>G) c.-99+31574A>G (n.-99+31574A>G) n.1970A>G n.2011A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.43093697T>G | CA500232810 | BRCA1 | n.1898A>C c.1834A>C (p.Arg612=) c.1708A>C (p.Arg570=) c.1831A>C (p.Arg611=) c.1756A>C (p.Arg586=) c.784+1047A>C (n.784+1047A>C) c.646+1047A>C (n.646+1047A>C) c.946A>C (p.Arg316=) c.1711A>C (p.Arg571=) c.1693A>C (p.Arg565=) c.664+1047A>C (n.664+1047A>C) c.706+1047A>C (n.706+1047A>C) c.670+2149A>C (n.670+2149A>C) c.1185A>C c.*1617A>C (n.*1617A>C) c.787+1047A>C (n.787+1047A>C) c.409+1047A>C (n.409+1047A>C) c.412+1047A>C (n.412+1047A>C) c.5-29746A>C (n.5-29746A>C) c.-43-19176A>C (n.-43-19176A>C) c.-99+31574A>C (n.-99+31574A>C) n.1970A>C n.2011A>C | |
| 17 | g.43093697T= | CA2260784237 | BRCA1 | n.1898A= c.1834A= (p.Arg612=) c.1708A= (p.Arg570=) c.1831A= (p.Arg611=) c.1756A= (p.Arg586=) c.784+1047A= (n.784+1047A=) c.646+1047A= (n.646+1047A=) c.946A= (p.Arg316=) c.1711A= (p.Arg571=) c.1693A= (p.Arg565=) c.664+1047A= (n.664+1047A=) c.706+1047A= (n.706+1047A=) c.670+2149A= (n.670+2149A=) c.1185A= c.*1617A= (n.*1617A=) c.787+1047A= (n.787+1047A=) c.409+1047A= (n.409+1047A=) c.412+1047A= (n.412+1047A=) c.5-29746A= (n.5-29746A=) c.-43-19176A= (n.-43-19176A=) c.-99+31574A= (n.-99+31574A=) n.1970A= n.2011A= | |
| 17 | g.43093698C>A | CA500232811 | BRCA1 | n.1897G>T c.1833G>T (p.Leu611=) c.1707G>T (p.Leu569=) c.1830G>T (p.Leu610=) c.1755G>T (p.Leu585=) c.784+1046G>T (n.784+1046G>T) c.646+1046G>T (n.646+1046G>T) c.945G>T (p.Leu315=) c.1710G>T (p.Leu570=) c.1692G>T (p.Leu564=) c.664+1046G>T (n.664+1046G>T) c.706+1046G>T (n.706+1046G>T) c.670+2148G>T (n.670+2148G>T) c.1184G>T c.*1616G>T (n.*1616G>T) c.787+1046G>T (n.787+1046G>T) c.409+1046G>T (n.409+1046G>T) c.412+1046G>T (n.412+1046G>T) c.5-29747G>T (n.5-29747G>T) c.-43-19177G>T (n.-43-19177G>T) c.-99+31573G>T (n.-99+31573G>T) n.1969G>T n.2010G>T | dbSNP |
| 17 | g.43093698C= | CA2260784238 | BRCA1 | n.1897G= c.1833G= (p.Leu611=) c.1707G= (p.Leu569=) c.1830G= (p.Leu610=) c.1755G= (p.Leu585=) c.784+1046G= (n.784+1046G=) c.646+1046G= (n.646+1046G=) c.945G= (p.Leu315=) c.1710G= (p.Leu570=) c.1692G= (p.Leu564=) c.664+1046G= (n.664+1046G=) c.706+1046G= (n.706+1046G=) c.670+2148G= (n.670+2148G=) c.1184G= c.*1616G= (n.*1616G=) c.787+1046G= (n.787+1046G=) c.409+1046G= (n.409+1046G=) c.412+1046G= (n.412+1046G=) c.5-29747G= (n.5-29747G=) c.-43-19177G= (n.-43-19177G=) c.-99+31573G= (n.-99+31573G=) n.1969G= n.2010G= | |
| 17 | g.43093698C>G | CA500232812 | BRCA1 | n.1897G>C c.1833G>C (p.Leu611=) c.1707G>C (p.Leu569=) c.1830G>C (p.Leu610=) c.1755G>C (p.Leu585=) c.784+1046G>C (n.784+1046G>C) c.646+1046G>C (n.646+1046G>C) c.945G>C (p.Leu315=) c.1710G>C (p.Leu570=) c.1692G>C (p.Leu564=) c.664+1046G>C (n.664+1046G>C) c.706+1046G>C (n.706+1046G>C) c.670+2148G>C (n.670+2148G>C) c.1184G>C c.*1616G>C (n.*1616G>C) c.787+1046G>C (n.787+1046G>C) c.409+1046G>C (n.409+1046G>C) c.412+1046G>C (n.412+1046G>C) c.5-29747G>C (n.5-29747G>C) c.-43-19177G>C (n.-43-19177G>C) c.-99+31573G>C (n.-99+31573G>C) n.1969G>C n.2010G>C | dbSNP |
| 17 | g.43093698C>T | CA001194 | BRCA1 | n.1897G>A c.1833G>A (p.Leu611=) c.1707G>A (p.Leu569=) c.1830G>A (p.Leu610=) c.1755G>A (p.Leu585=) c.784+1046G>A (n.784+1046G>A) c.646+1046G>A (n.646+1046G>A) c.945G>A (p.Leu315=) c.1710G>A (p.Leu570=) c.1692G>A (p.Leu564=) c.664+1046G>A (n.664+1046G>A) c.706+1046G>A (n.706+1046G>A) c.670+2148G>A (n.670+2148G>A) c.1184G>A c.*1616G>A (n.*1616G>A) c.787+1046G>A (n.787+1046G>A) c.409+1046G>A (n.409+1046G>A) c.412+1046G>A (n.412+1046G>A) c.5-29747G>A (n.5-29747G>A) c.-43-19177G>A (n.-43-19177G>A) c.-99+31573G>A (n.-99+31573G>A) n.1969G>A n.2010G>A | ClinVar dbSNP |
| 17 | g.43093699A>C | CA10598350 | BRCA1 | n.1896T>G c.1832T>G (p.Leu611Arg) c.1706T>G (p.Leu569Arg) c.1829T>G (p.Leu610Arg) c.1754T>G (p.Leu585Arg) c.784+1045T>G (n.784+1045T>G) c.646+1045T>G (n.646+1045T>G) c.944T>G (p.Leu315Arg) c.1709T>G (p.Leu570Arg) c.1691T>G (p.Leu564Arg) c.664+1045T>G (n.664+1045T>G) c.706+1045T>G (n.706+1045T>G) c.670+2147T>G (n.670+2147T>G) c.1183T>G c.*1615T>G (n.*1615T>G) c.787+1045T>G (n.787+1045T>G) c.409+1045T>G (n.409+1045T>G) c.412+1045T>G (n.412+1045T>G) c.5-29748T>G (n.5-29748T>G) c.-43-19178T>G (n.-43-19178T>G) c.-99+31572T>G (n.-99+31572T>G) n.1968T>G n.2009T>G | |
| 17 | g.43093699A>G | CA10598351 | BRCA1 | n.1896T>C c.1832T>C (p.Leu611Pro) c.1706T>C (p.Leu569Pro) c.1829T>C (p.Leu610Pro) c.1754T>C (p.Leu585Pro) c.784+1045T>C (n.784+1045T>C) c.646+1045T>C (n.646+1045T>C) c.944T>C (p.Leu315Pro) c.1709T>C (p.Leu570Pro) c.1691T>C (p.Leu564Pro) c.664+1045T>C (n.664+1045T>C) c.706+1045T>C (n.706+1045T>C) c.670+2147T>C (n.670+2147T>C) c.1183T>C c.*1615T>C (n.*1615T>C) c.787+1045T>C (n.787+1045T>C) c.409+1045T>C (n.409+1045T>C) c.412+1045T>C (n.412+1045T>C) c.5-29748T>C (n.5-29748T>C) c.-43-19178T>C (n.-43-19178T>C) c.-99+31572T>C (n.-99+31572T>C) n.1968T>C n.2009T>C | dbSNP |
| 17 | g.43093699A>T | CA10598352 | BRCA1 | n.1896T>A c.1832T>A (p.Leu611Gln) c.1706T>A (p.Leu569Gln) c.1829T>A (p.Leu610Gln) c.1754T>A (p.Leu585Gln) c.784+1045T>A (n.784+1045T>A) c.646+1045T>A (n.646+1045T>A) c.944T>A (p.Leu315Gln) c.1709T>A (p.Leu570Gln) c.1691T>A (p.Leu564Gln) c.664+1045T>A (n.664+1045T>A) c.706+1045T>A (n.706+1045T>A) c.670+2147T>A (n.670+2147T>A) c.1183T>A c.*1615T>A (n.*1615T>A) c.787+1045T>A (n.787+1045T>A) c.409+1045T>A (n.409+1045T>A) c.412+1045T>A (n.412+1045T>A) c.5-29748T>A (n.5-29748T>A) c.-43-19178T>A (n.-43-19178T>A) c.-99+31572T>A (n.-99+31572T>A) n.1968T>A n.2009T>A | dbSNP |
| 17 | g.43093699dup | CA2739265576 | BRCA1 | n.1896dup c.1832dup (p.Arg612GlufsTer13) c.1706dup (p.Arg570GlufsTer13) c.1829dup (p.Arg611GlufsTer13) c.1754dup (p.Arg586GlufsTer13) c.784+1045dup (n.784+1045dup) c.646+1045dup (n.646+1045dup) c.944dup (p.Arg316GlufsTer13) c.1709dup (p.Arg571GlufsTer13) c.1691dup (p.Arg565GlufsTer13) c.664+1045dup (n.664+1045dup) c.706+1045dup (n.706+1045dup) c.670+2147dup (n.670+2147dup) c.1183dup c.*1615dup (n.*1615dup) c.787+1045dup (n.787+1045dup) c.409+1045dup (n.409+1045dup) c.412+1045dup (n.412+1045dup) c.5-29748dup (n.5-29748dup) c.-43-19178dup (n.-43-19178dup) c.-99+31572dup (n.-99+31572dup) n.1968dup n.2009dup | ClinVar |
| 17 | g.43093699_43093700delinsAG | CA2260784239 | BRCA1 | n.1895_1896delinsCT c.1831_1832delinsCT (p.Leu611=) c.1705_1706delinsCT (p.Leu569=) c.1828_1829delinsCT (p.Leu610=) c.1753_1754delinsCT (p.Leu585=) c.784+1044_784+1045delinsCT (n.784+1044_784+1045delinsCT) c.646+1044_646+1045delinsCT (n.646+1044_646+1045delinsCT) c.943_944delinsCT (p.Leu315=) c.1708_1709delinsCT (p.Leu570=) c.1690_1691delinsCT (p.Leu564=) c.664+1044_664+1045delinsCT (n.664+1044_664+1045delinsCT) c.706+1044_706+1045delinsCT (n.706+1044_706+1045delinsCT) c.670+2146_670+2147delinsCT (n.670+2146_670+2147delinsCT) c.1182_1183delinsCT c.*1614_*1615delinsCT (n.*1614_*1615delinsCT) c.787+1044_787+1045delinsCT (n.787+1044_787+1045delinsCT) c.409+1044_409+1045delinsCT (n.409+1044_409+1045delinsCT) c.412+1044_412+1045delinsCT (n.412+1044_412+1045delinsCT) c.5-29749_5-29748delinsCT (n.5-29749_5-29748delinsCT) c.-43-19179_-43-19178delinsCT (n.-43-19179_-43-19178delinsCT) c.-99+31571_-99+31572delinsCT (n.-99+31571_-99+31572delinsCT) n.1967_1968delinsCT n.2008_2009delinsCT | |
| 17 | g.43093700del | CA001193 | BRCA1 | n.1895del c.1831del (p.Leu611Ter) c.1705del (p.Leu569Ter) c.1828del (p.Leu610Ter) c.1753del (p.Leu585Ter) c.784+1044del (n.784+1044del) c.646+1044del (n.646+1044del) c.943del (p.Leu315Ter) c.1708del (p.Leu570Ter) c.1690del (p.Leu564Ter) c.664+1044del (n.664+1044del) c.706+1044del (n.706+1044del) c.670+2146del (n.670+2146del) c.1182del c.*1614del (n.*1614del) c.787+1044del (n.787+1044del) c.409+1044del (n.409+1044del) c.412+1044del (n.412+1044del) c.5-29749del (n.5-29749del) c.-43-19179del (n.-43-19179del) c.-99+31571del (n.-99+31571del) n.1967del n.2008del | ClinVar dbSNP |
| 17 | g.43093700G>A | CA500232813 | BRCA1 | n.1895C>T c.1831C>T (p.Leu611=) c.1705C>T (p.Leu569=) c.1828C>T (p.Leu610=) c.1753C>T (p.Leu585=) c.784+1044C>T (n.784+1044C>T) c.646+1044C>T (n.646+1044C>T) c.943C>T (p.Leu315=) c.1708C>T (p.Leu570=) c.1690C>T (p.Leu564=) c.664+1044C>T (n.664+1044C>T) c.706+1044C>T (n.706+1044C>T) c.670+2146C>T (n.670+2146C>T) c.1182C>T c.*1614C>T (n.*1614C>T) c.787+1044C>T (n.787+1044C>T) c.409+1044C>T (n.409+1044C>T) c.412+1044C>T (n.412+1044C>T) c.5-29749C>T (n.5-29749C>T) c.-43-19179C>T (n.-43-19179C>T) c.-99+31571C>T (n.-99+31571C>T) n.1967C>T n.2008C>T | dbSNP |
| 17 | g.43093700G>C | CA10598353 | BRCA1 | n.1895C>G c.1831C>G (p.Leu611Val) c.1705C>G (p.Leu569Val) c.1828C>G (p.Leu610Val) c.1753C>G (p.Leu585Val) c.784+1044C>G (n.784+1044C>G) c.646+1044C>G (n.646+1044C>G) c.943C>G (p.Leu315Val) c.1708C>G (p.Leu570Val) c.1690C>G (p.Leu564Val) c.664+1044C>G (n.664+1044C>G) c.706+1044C>G (n.706+1044C>G) c.670+2146C>G (n.670+2146C>G) c.1182C>G c.*1614C>G (n.*1614C>G) c.787+1044C>G (n.787+1044C>G) c.409+1044C>G (n.409+1044C>G) c.412+1044C>G (n.412+1044C>G) c.5-29749C>G (n.5-29749C>G) c.-43-19179C>G (n.-43-19179C>G) c.-99+31571C>G (n.-99+31571C>G) n.1967C>G n.2008C>G | dbSNP |
| 17 | g.43093700G>T | CA10598354 | BRCA1 | n.1895C>A c.1831C>A (p.Leu611Met) c.1705C>A (p.Leu569Met) c.1828C>A (p.Leu610Met) c.1753C>A (p.Leu585Met) c.784+1044C>A (n.784+1044C>A) c.646+1044C>A (n.646+1044C>A) c.943C>A (p.Leu315Met) c.1708C>A (p.Leu570Met) c.1690C>A (p.Leu564Met) c.664+1044C>A (n.664+1044C>A) c.706+1044C>A (n.706+1044C>A) c.670+2146C>A (n.670+2146C>A) c.1182C>A c.*1614C>A (n.*1614C>A) c.787+1044C>A (n.787+1044C>A) c.409+1044C>A (n.409+1044C>A) c.412+1044C>A (n.412+1044C>A) c.5-29749C>A (n.5-29749C>A) c.-43-19179C>A (n.-43-19179C>A) c.-99+31571C>A (n.-99+31571C>A) n.1967C>A n.2008C>A | dbSNP |
| 17 | g.43093701C>A | CA10598355 | BRCA1 | n.1894G>T c.1830G>T (p.Arg610Ser) c.1704G>T (p.Arg568Ser) c.1827G>T (p.Arg609Ser) c.1752G>T (p.Arg584Ser) c.784+1043G>T (n.784+1043G>T) c.646+1043G>T (n.646+1043G>T) c.942G>T (p.Arg314Ser) c.1707G>T (p.Arg569Ser) c.1689G>T (p.Arg563Ser) c.664+1043G>T (n.664+1043G>T) c.706+1043G>T (n.706+1043G>T) c.670+2145G>T (n.670+2145G>T) c.1181G>T c.*1613G>T (n.*1613G>T) c.787+1043G>T (n.787+1043G>T) c.409+1043G>T (n.409+1043G>T) c.412+1043G>T (n.412+1043G>T) c.5-29750G>T (n.5-29750G>T) c.-43-19180G>T (n.-43-19180G>T) c.-99+31570G>T (n.-99+31570G>T) n.1966G>T n.2007G>T | ClinVar dbSNP |
| 17 | g.43093701C= | CA2260784240 | BRCA1 | n.1894G= c.1830G= (p.Arg610=) c.1704G= (p.Arg568=) c.1827G= (p.Arg609=) c.1752G= (p.Arg584=) c.784+1043G= (n.784+1043G=) c.646+1043G= (n.646+1043G=) c.942G= (p.Arg314=) c.1707G= (p.Arg569=) c.1689G= (p.Arg563=) c.664+1043G= (n.664+1043G=) c.706+1043G= (n.706+1043G=) c.670+2145G= (n.670+2145G=) c.1181G= c.*1613G= (n.*1613G=) c.787+1043G= (n.787+1043G=) c.409+1043G= (n.409+1043G=) c.412+1043G= (n.412+1043G=) c.5-29750G= (n.5-29750G=) c.-43-19180G= (n.-43-19180G=) c.-99+31570G= (n.-99+31570G=) n.1966G= n.2007G= | |
| 17 | g.43093701C>G | CA10598356 | BRCA1 | n.1894G>C c.1830G>C (p.Arg610Ser) c.1704G>C (p.Arg568Ser) c.1827G>C (p.Arg609Ser) c.1752G>C (p.Arg584Ser) c.784+1043G>C (n.784+1043G>C) c.646+1043G>C (n.646+1043G>C) c.942G>C (p.Arg314Ser) c.1707G>C (p.Arg569Ser) c.1689G>C (p.Arg563Ser) c.664+1043G>C (n.664+1043G>C) c.706+1043G>C (n.706+1043G>C) c.670+2145G>C (n.670+2145G>C) c.1181G>C c.*1613G>C (n.*1613G>C) c.787+1043G>C (n.787+1043G>C) c.409+1043G>C (n.409+1043G>C) c.412+1043G>C (n.412+1043G>C) c.5-29750G>C (n.5-29750G>C) c.-43-19180G>C (n.-43-19180G>C) c.-99+31570G>C (n.-99+31570G>C) n.1966G>C n.2007G>C | dbSNP |
| 17 | g.43093701C>T | CA001192 | BRCA1 | n.1894G>A c.1830G>A (p.Arg610=) c.1704G>A (p.Arg568=) c.1827G>A (p.Arg609=) c.1752G>A (p.Arg584=) c.784+1043G>A (n.784+1043G>A) c.646+1043G>A (n.646+1043G>A) c.942G>A (p.Arg314=) c.1707G>A (p.Arg569=) c.1689G>A (p.Arg563=) c.664+1043G>A (n.664+1043G>A) c.706+1043G>A (n.706+1043G>A) c.670+2145G>A (n.670+2145G>A) c.1181G>A c.*1613G>A (n.*1613G>A) c.787+1043G>A (n.787+1043G>A) c.409+1043G>A (n.409+1043G>A) c.412+1043G>A (n.412+1043G>A) c.5-29750G>A (n.5-29750G>A) c.-43-19180G>A (n.-43-19180G>A) c.-99+31570G>A (n.-99+31570G>A) n.1966G>A n.2007G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.43093701_43093706delinsCCTATT | CA2260784241 | BRCA1 | n.1889_1894delinsAATAGG c.1825_1830delinsAATAGG (p.Asn609=) c.1699_1704delinsAATAGG (p.Asn567=) c.1822_1827delinsAATAGG (p.Asn608=) c.1747_1752delinsAATAGG (p.Asn583=) c.784+1038_784+1043delinsAATAGG (n.784+1038_784+1043delinsAATAGG) c.646+1038_646+1043delinsAATAGG (n.646+1038_646+1043delinsAATAGG) c.937_942delinsAATAGG (p.Asn313=) c.1702_1707delinsAATAGG (p.Asn568=) c.1684_1689delinsAATAGG (p.Asn562=) c.664+1038_664+1043delinsAATAGG (n.664+1038_664+1043delinsAATAGG) c.706+1038_706+1043delinsAATAGG (n.706+1038_706+1043delinsAATAGG) c.670+2140_670+2145delinsAATAGG (n.670+2140_670+2145delinsAATAGG) c.1176_1181delinsAATAGG c.*1608_*1613delinsAATAGG (n.*1608_*1613delinsAATAGG) c.787+1038_787+1043delinsAATAGG (n.787+1038_787+1043delinsAATAGG) c.409+1038_409+1043delinsAATAGG (n.409+1038_409+1043delinsAATAGG) c.412+1038_412+1043delinsAATAGG (n.412+1038_412+1043delinsAATAGG) c.5-29755_5-29750delinsAATAGG (n.5-29755_5-29750delinsAATAGG) c.-43-19185_-43-19180delinsAATAGG (n.-43-19185_-43-19180delinsAATAGG) c.-99+31565_-99+31570delinsAATAGG (n.-99+31565_-99+31570delinsAATAGG) n.1961_1966delinsAATAGG n.2002_2007delinsAATAGG | |
| 17 | g.43093702C>A | CA10598357 | BRCA1 | n.1893G>T c.1829G>T (p.Arg610Met) c.1703G>T (p.Arg568Met) c.1826G>T (p.Arg609Met) c.1751G>T (p.Arg584Met) c.784+1042G>T (n.784+1042G>T) c.646+1042G>T (n.646+1042G>T) c.941G>T (p.Arg314Met) c.1706G>T (p.Arg569Met) c.1688G>T (p.Arg563Met) c.664+1042G>T (n.664+1042G>T) c.706+1042G>T (n.706+1042G>T) c.670+2144G>T (n.670+2144G>T) c.1180G>T c.*1612G>T (n.*1612G>T) c.787+1042G>T (n.787+1042G>T) c.409+1042G>T (n.409+1042G>T) c.412+1042G>T (n.412+1042G>T) c.5-29751G>T (n.5-29751G>T) c.-43-19181G>T (n.-43-19181G>T) c.-99+31569G>T (n.-99+31569G>T) n.1965G>T n.2006G>T | dbSNP COSMIC COSMIC |
| 17 | g.43093702C= | CA2260784242 | BRCA1 | n.1893G= c.1829G= (p.Arg610=) c.1703G= (p.Arg568=) c.1826G= (p.Arg609=) c.1751G= (p.Arg584=) c.784+1042G= (n.784+1042G=) c.646+1042G= (n.646+1042G=) c.941G= (p.Arg314=) c.1706G= (p.Arg569=) c.1688G= (p.Arg563=) c.664+1042G= (n.664+1042G=) c.706+1042G= (n.706+1042G=) c.670+2144G= (n.670+2144G=) c.1180G= c.*1612G= (n.*1612G=) c.787+1042G= (n.787+1042G=) c.409+1042G= (n.409+1042G=) c.412+1042G= (n.412+1042G=) c.5-29751G= (n.5-29751G=) c.-43-19181G= (n.-43-19181G=) c.-99+31569G= (n.-99+31569G=) n.1965G= n.2006G= | |
| 17 | g.43093702C>G | CA10598358 | BRCA1 | n.1893G>C c.1829G>C (p.Arg610Thr) c.1703G>C (p.Arg568Thr) c.1826G>C (p.Arg609Thr) c.1751G>C (p.Arg584Thr) c.784+1042G>C (n.784+1042G>C) c.646+1042G>C (n.646+1042G>C) c.941G>C (p.Arg314Thr) c.1706G>C (p.Arg569Thr) c.1688G>C (p.Arg563Thr) c.664+1042G>C (n.664+1042G>C) c.706+1042G>C (n.706+1042G>C) c.670+2144G>C (n.670+2144G>C) c.1180G>C c.*1612G>C (n.*1612G>C) c.787+1042G>C (n.787+1042G>C) c.409+1042G>C (n.409+1042G>C) c.412+1042G>C (n.412+1042G>C) c.5-29751G>C (n.5-29751G>C) c.-43-19181G>C (n.-43-19181G>C) c.-99+31569G>C (n.-99+31569G>C) n.1965G>C n.2006G>C | ClinVar dbSNP |
| 17 | g.43093702C>T | CA10580648 | BRCA1 | n.1893G>A c.1829G>A (p.Arg610Lys) c.1703G>A (p.Arg568Lys) c.1826G>A (p.Arg609Lys) c.1751G>A (p.Arg584Lys) c.784+1042G>A (n.784+1042G>A) c.646+1042G>A (n.646+1042G>A) c.941G>A (p.Arg314Lys) c.1706G>A (p.Arg569Lys) c.1688G>A (p.Arg563Lys) c.664+1042G>A (n.664+1042G>A) c.706+1042G>A (n.706+1042G>A) c.670+2144G>A (n.670+2144G>A) c.1180G>A c.*1612G>A (n.*1612G>A) c.787+1042G>A (n.787+1042G>A) c.409+1042G>A (n.409+1042G>A) c.412+1042G>A (n.412+1042G>A) c.5-29751G>A (n.5-29751G>A) c.-43-19181G>A (n.-43-19181G>A) c.-99+31569G>A (n.-99+31569G>A) n.1965G>A n.2006G>A | ClinVar dbSNP |
| 17 | g.43093704_43093708del | CA658684109 | BRCA1 | n.1889_1893del c.1825_1829del (p.Asn609AlafsTer14) c.1699_1703del (p.Asn567AlafsTer14) c.1822_1826del (p.Asn608AlafsTer14) c.1747_1751del (p.Asn583AlafsTer14) c.784+1038_784+1042del (n.784+1038_784+1042del) c.646+1038_646+1042del (n.646+1038_646+1042del) c.937_941del (p.Asn313AlafsTer14) c.1702_1706del (p.Asn568AlafsTer14) c.1684_1688del (p.Asn562AlafsTer14) c.664+1038_664+1042del (n.664+1038_664+1042del) c.706+1038_706+1042del (n.706+1038_706+1042del) c.670+2140_670+2144del (n.670+2140_670+2144del) c.1176_1180del c.*1608_*1612del (n.*1608_*1612del) c.787+1038_787+1042del (n.787+1038_787+1042del) c.409+1038_409+1042del (n.409+1038_409+1042del) c.412+1038_412+1042del (n.412+1038_412+1042del) c.5-29755_5-29751del (n.5-29755_5-29751del) c.-43-19185_-43-19181del (n.-43-19185_-43-19181del) c.-99+31565_-99+31569del (n.-99+31565_-99+31569del) n.1961_1965del n.2002_2006del | ClinVar dbSNP |
| 17 | g.43093703T>A | CA10598359 | BRCA1 | n.1892A>T c.1828A>T (p.Arg610Trp) c.1702A>T (p.Arg568Trp) c.1825A>T (p.Arg609Trp) c.1750A>T (p.Arg584Trp) c.784+1041A>T (n.784+1041A>T) c.646+1041A>T (n.646+1041A>T) c.940A>T (p.Arg314Trp) c.1705A>T (p.Arg569Trp) c.1687A>T (p.Arg563Trp) c.664+1041A>T (n.664+1041A>T) c.706+1041A>T (n.706+1041A>T) c.670+2143A>T (n.670+2143A>T) c.1179A>T c.*1611A>T (n.*1611A>T) c.787+1041A>T (n.787+1041A>T) c.409+1041A>T (n.409+1041A>T) c.412+1041A>T (n.412+1041A>T) c.5-29752A>T (n.5-29752A>T) c.-43-19182A>T (n.-43-19182A>T) c.-99+31568A>T (n.-99+31568A>T) n.1964A>T n.2005A>T | dbSNP |
| 17 | g.43093703T>C | CA001190 | BRCA1 | n.1892A>G c.1828A>G (p.Arg610Gly) c.1702A>G (p.Arg568Gly) c.1825A>G (p.Arg609Gly) c.1750A>G (p.Arg584Gly) c.784+1041A>G (n.784+1041A>G) c.646+1041A>G (n.646+1041A>G) c.940A>G (p.Arg314Gly) c.1705A>G (p.Arg569Gly) c.1687A>G (p.Arg563Gly) c.664+1041A>G (n.664+1041A>G) c.706+1041A>G (n.706+1041A>G) c.670+2143A>G (n.670+2143A>G) c.1179A>G c.*1611A>G (n.*1611A>G) c.787+1041A>G (n.787+1041A>G) c.409+1041A>G (n.409+1041A>G) c.412+1041A>G (n.412+1041A>G) c.5-29752A>G (n.5-29752A>G) c.-43-19182A>G (n.-43-19182A>G) c.-99+31568A>G (n.-99+31568A>G) n.1964A>G n.2005A>G | ClinVar dbSNP |
| 17 | g.43093703T>G | CA500232814 | BRCA1 | n.1892A>C c.1828A>C (p.Arg610=) c.1702A>C (p.Arg568=) c.1825A>C (p.Arg609=) c.1750A>C (p.Arg584=) c.784+1041A>C (n.784+1041A>C) c.646+1041A>C (n.646+1041A>C) c.940A>C (p.Arg314=) c.1705A>C (p.Arg569=) c.1687A>C (p.Arg563=) c.664+1041A>C (n.664+1041A>C) c.706+1041A>C (n.706+1041A>C) c.670+2143A>C (n.670+2143A>C) c.1179A>C c.*1611A>C (n.*1611A>C) c.787+1041A>C (n.787+1041A>C) c.409+1041A>C (n.409+1041A>C) c.412+1041A>C (n.412+1041A>C) c.5-29752A>C (n.5-29752A>C) c.-43-19182A>C (n.-43-19182A>C) c.-99+31568A>C (n.-99+31568A>C) n.1964A>C n.2005A>C | ClinVar dbSNP COSMIC COSMIC |
| 17 | g.43093703T= | CA2260784243 | BRCA1 | n.1892A= c.1828A= (p.Arg610=) c.1702A= (p.Arg568=) c.1825A= (p.Arg609=) c.1750A= (p.Arg584=) c.784+1041A= (n.784+1041A=) c.646+1041A= (n.646+1041A=) c.940A= (p.Arg314=) c.1705A= (p.Arg569=) c.1687A= (p.Arg563=) c.664+1041A= (n.664+1041A=) c.706+1041A= (n.706+1041A=) c.670+2143A= (n.670+2143A=) c.1179A= c.*1611A= (n.*1611A=) c.787+1041A= (n.787+1041A=) c.409+1041A= (n.409+1041A=) c.412+1041A= (n.412+1041A=) c.5-29752A= (n.5-29752A=) c.-43-19182A= (n.-43-19182A=) c.-99+31568A= (n.-99+31568A=) n.1964A= n.2005A= | |
| 17 | g.43093704A= | CA2260784247 | BRCA1 | n.1891T= c.1827T= (p.Asn609=) c.1701T= (p.Asn567=) c.1824T= (p.Asn608=) c.1749T= (p.Asn583=) c.784+1040T= (n.784+1040T=) c.646+1040T= (n.646+1040T=) c.939T= (p.Asn313=) c.1704T= (p.Asn568=) c.1686T= (p.Asn562=) c.664+1040T= (n.664+1040T=) c.706+1040T= (n.706+1040T=) c.670+2142T= (n.670+2142T=) c.1178T= c.*1610T= (n.*1610T=) c.787+1040T= (n.787+1040T=) c.409+1040T= (n.409+1040T=) c.412+1040T= (n.412+1040T=) c.5-29753T= (n.5-29753T=) c.-43-19183T= (n.-43-19183T=) c.-99+31567T= (n.-99+31567T=) n.1963T= n.2004T= | |
| 17 | g.43093704A>C | CA10598360 | BRCA1 | n.1891T>G c.1827T>G (p.Asn609Lys) c.1701T>G (p.Asn567Lys) c.1824T>G (p.Asn608Lys) c.1749T>G (p.Asn583Lys) c.784+1040T>G (n.784+1040T>G) c.646+1040T>G (n.646+1040T>G) c.939T>G (p.Asn313Lys) c.1704T>G (p.Asn568Lys) c.1686T>G (p.Asn562Lys) c.664+1040T>G (n.664+1040T>G) c.706+1040T>G (n.706+1040T>G) c.670+2142T>G (n.670+2142T>G) c.1178T>G c.*1610T>G (n.*1610T>G) c.787+1040T>G (n.787+1040T>G) c.409+1040T>G (n.409+1040T>G) c.412+1040T>G (n.412+1040T>G) c.5-29753T>G (n.5-29753T>G) c.-43-19183T>G (n.-43-19183T>G) c.-99+31567T>G (n.-99+31567T>G) n.1963T>G n.2004T>G | dbSNP |
| 17 | g.43093704A>G | CA8589951 | BRCA1 | n.1891T>C c.1827T>C (p.Asn609=) c.1701T>C (p.Asn567=) c.1824T>C (p.Asn608=) c.1749T>C (p.Asn583=) c.784+1040T>C (n.784+1040T>C) c.646+1040T>C (n.646+1040T>C) c.939T>C (p.Asn313=) c.1704T>C (p.Asn568=) c.1686T>C (p.Asn562=) c.664+1040T>C (n.664+1040T>C) c.706+1040T>C (n.706+1040T>C) c.670+2142T>C (n.670+2142T>C) c.1178T>C c.*1610T>C (n.*1610T>C) c.787+1040T>C (n.787+1040T>C) c.409+1040T>C (n.409+1040T>C) c.412+1040T>C (n.412+1040T>C) c.5-29753T>C (n.5-29753T>C) c.-43-19183T>C (n.-43-19183T>C) c.-99+31567T>C (n.-99+31567T>C) n.1963T>C n.2004T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.43093704A>T | CA10598361 | BRCA1 | n.1891T>A c.1827T>A (p.Asn609Lys) c.1701T>A (p.Asn567Lys) c.1824T>A (p.Asn608Lys) c.1749T>A (p.Asn583Lys) c.784+1040T>A (n.784+1040T>A) c.646+1040T>A (n.646+1040T>A) c.939T>A (p.Asn313Lys) c.1704T>A (p.Asn568Lys) c.1686T>A (p.Asn562Lys) c.664+1040T>A (n.664+1040T>A) c.706+1040T>A (n.706+1040T>A) c.670+2142T>A (n.670+2142T>A) c.1178T>A c.*1610T>A (n.*1610T>A) c.787+1040T>A (n.787+1040T>A) c.409+1040T>A (n.409+1040T>A) c.412+1040T>A (n.412+1040T>A) c.5-29753T>A (n.5-29753T>A) c.-43-19183T>A (n.-43-19183T>A) c.-99+31567T>A (n.-99+31567T>A) n.1963T>A n.2004T>A | dbSNP |
| 17 | g.43093704_43093705delinsAT | CA2260784245 | BRCA1 | n.1890_1891delinsAT c.1826_1827delinsAT (p.Asn609=) c.1700_1701delinsAT (p.Asn567=) c.1823_1824delinsAT (p.Asn608=) c.1748_1749delinsAT (p.Asn583=) c.784+1039_784+1040delinsAT (n.784+1039_784+1040delinsAT) c.646+1039_646+1040delinsAT (n.646+1039_646+1040delinsAT) c.938_939delinsAT (p.Asn313=) c.1703_1704delinsAT (p.Asn568=) c.1685_1686delinsAT (p.Asn562=) c.664+1039_664+1040delinsAT (n.664+1039_664+1040delinsAT) c.706+1039_706+1040delinsAT (n.706+1039_706+1040delinsAT) c.670+2141_670+2142delinsAT (n.670+2141_670+2142delinsAT) c.1177_1178delinsAT c.*1609_*1610delinsAT (n.*1609_*1610delinsAT) c.787+1039_787+1040delinsAT (n.787+1039_787+1040delinsAT) c.409+1039_409+1040delinsAT (n.409+1039_409+1040delinsAT) c.412+1039_412+1040delinsAT (n.412+1039_412+1040delinsAT) c.5-29754_5-29753delinsAT (n.5-29754_5-29753delinsAT) c.-43-19184_-43-19183delinsAT (n.-43-19184_-43-19183delinsAT) c.-99+31566_-99+31567delinsAT (n.-99+31566_-99+31567delinsAT) n.1962_1963delinsAT n.2003_2004delinsAT | |
| 17 | g.43093704_43093707delinsATTC | CA2260784246 | BRCA1 | n.1888_1891delinsGAAT c.1824_1827delinsGAAT (p.Lys608=) c.1698_1701delinsGAAT (p.Lys566=) c.1821_1824delinsGAAT (p.Lys607=) c.1746_1749delinsGAAT (p.Lys582=) c.784+1037_784+1040delinsGAAT (n.784+1037_784+1040delinsGAAT) c.646+1037_646+1040delinsGAAT (n.646+1037_646+1040delinsGAAT) c.936_939delinsGAAT (p.Lys312=) c.1701_1704delinsGAAT (p.Lys567=) c.1683_1686delinsGAAT (p.Lys561=) c.664+1037_664+1040delinsGAAT (n.664+1037_664+1040delinsGAAT) c.706+1037_706+1040delinsGAAT (n.706+1037_706+1040delinsGAAT) c.670+2139_670+2142delinsGAAT (n.670+2139_670+2142delinsGAAT) c.1175_1178delinsGAAT c.*1607_*1610delinsGAAT (n.*1607_*1610delinsGAAT) c.787+1037_787+1040delinsGAAT (n.787+1037_787+1040delinsGAAT) c.409+1037_409+1040delinsGAAT (n.409+1037_409+1040delinsGAAT) c.412+1037_412+1040delinsGAAT (n.412+1037_412+1040delinsGAAT) c.5-29756_5-29753delinsGAAT (n.5-29756_5-29753delinsGAAT) c.-43-19186_-43-19183delinsGAAT (n.-43-19186_-43-19183delinsGAAT) c.-99+31564_-99+31567delinsGAAT (n.-99+31564_-99+31567delinsGAAT) n.1960_1963delinsGAAT n.2001_2004delinsGAAT | |
| 17 | g.43093704_43093708delinsATTCT | CA2260784244 | BRCA1 | n.1887_1891delinsAGAAT c.1823_1827delinsAGAAT (p.Lys608=) c.1697_1701delinsAGAAT (p.Lys566=) c.1820_1824delinsAGAAT (p.Lys607=) c.1745_1749delinsAGAAT (p.Lys582=) c.784+1036_784+1040delinsAGAAT (n.784+1036_784+1040delinsAGAAT) c.646+1036_646+1040delinsAGAAT (n.646+1036_646+1040delinsAGAAT) c.935_939delinsAGAAT (p.Lys312=) c.1700_1704delinsAGAAT (p.Lys567=) c.1682_1686delinsAGAAT (p.Lys561=) c.664+1036_664+1040delinsAGAAT (n.664+1036_664+1040delinsAGAAT) c.706+1036_706+1040delinsAGAAT (n.706+1036_706+1040delinsAGAAT) c.670+2138_670+2142delinsAGAAT (n.670+2138_670+2142delinsAGAAT) c.1174_1178delinsAGAAT c.*1606_*1610delinsAGAAT (n.*1606_*1610delinsAGAAT) c.787+1036_787+1040delinsAGAAT (n.787+1036_787+1040delinsAGAAT) c.409+1036_409+1040delinsAGAAT (n.409+1036_409+1040delinsAGAAT) c.412+1036_412+1040delinsAGAAT (n.412+1036_412+1040delinsAGAAT) c.5-29757_5-29753delinsAGAAT (n.5-29757_5-29753delinsAGAAT) c.-43-19187_-43-19183delinsAGAAT (n.-43-19187_-43-19183delinsAGAAT) c.-99+31563_-99+31567delinsAGAAT (n.-99+31563_-99+31567delinsAGAAT) n.1959_1963delinsAGAAT n.2000_2004delinsAGAAT | |
| 17 | g.43093705T>A | CA10598362 | BRCA1 | n.1890A>T c.1826A>T (p.Asn609Ile) c.1700A>T (p.Asn567Ile) c.1823A>T (p.Asn608Ile) c.1748A>T (p.Asn583Ile) c.784+1039A>T (n.784+1039A>T) c.646+1039A>T (n.646+1039A>T) c.938A>T (p.Asn313Ile) c.1703A>T (p.Asn568Ile) c.1685A>T (p.Asn562Ile) c.664+1039A>T (n.664+1039A>T) c.706+1039A>T (n.706+1039A>T) c.670+2141A>T (n.670+2141A>T) c.1177A>T c.*1609A>T (n.*1609A>T) c.787+1039A>T (n.787+1039A>T) c.409+1039A>T (n.409+1039A>T) c.412+1039A>T (n.412+1039A>T) c.5-29754A>T (n.5-29754A>T) c.-43-19184A>T (n.-43-19184A>T) c.-99+31566A>T (n.-99+31566A>T) n.1962A>T n.2003A>T | dbSNP |
| 17 | g.43093705T>C | CA001189 | BRCA1 | n.1890A>G c.1826A>G (p.Asn609Ser) c.1700A>G (p.Asn567Ser) c.1823A>G (p.Asn608Ser) c.1748A>G (p.Asn583Ser) c.784+1039A>G (n.784+1039A>G) c.646+1039A>G (n.646+1039A>G) c.938A>G (p.Asn313Ser) c.1703A>G (p.Asn568Ser) c.1685A>G (p.Asn562Ser) c.664+1039A>G (n.664+1039A>G) c.706+1039A>G (n.706+1039A>G) c.670+2141A>G (n.670+2141A>G) c.1177A>G c.*1609A>G (n.*1609A>G) c.787+1039A>G (n.787+1039A>G) c.409+1039A>G (n.409+1039A>G) c.412+1039A>G (n.412+1039A>G) c.5-29754A>G (n.5-29754A>G) c.-43-19184A>G (n.-43-19184A>G) c.-99+31566A>G (n.-99+31566A>G) n.1962A>G n.2003A>G | ClinVar dbSNP gnomAD v4 |