| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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.43093881_43094860dup | CA2580618106 | BRCA1 | n.735_1714dup c.671_1650dup (p.Ser551LeufsTer10) c.545_1524dup (p.Ser509LeufsTer10) c.668_1647dup (p.Ser550LeufsTer10) c.593_1572dup (p.Ser525LeufsTer10) c.668_784+863dup c.530_646+863dup c.-218_762dup (p.Ser255LeufsTer10) c.548_1527dup (p.Ser510LeufsTer10) c.530_1509dup (p.Ser504LeufsTer10) c.548_664+863dup c.590_706+863dup c.670+986_670+1965dup (n.670+986_670+1965dup) c.22_1001dup c.*454_*1433dup (n.*454_*1433dup) c.671_787+863dup c.293_409+863dup c.296_412+863dup c.4+30322_5-29930dup (n.4+30322_5-29930dup) c.-43-20339_-43-19360dup (n.-43-20339_-43-19360dup) c.-99+30411_-99+31390dup (n.-99+30411_-99+31390dup) n.807_1786dup n.848_1827dup | |
| 17 | g.43094513_43094886del | CA1139664799 | BRCA1 | n.735-26_1082del c.671-26_1018del c.545-26_892del c.668-26_1015del c.593-26_940del c.668-26_784+231del c.530-26_646+231del c.-218-26_130del c.548-26_895del c.530-26_877del c.548-26_664+231del c.590-26_706+231del c.*679-26_*1026del c.*545-26_*892del c.670+960_670+1333del (n.670+960_670+1333del) c.22-26_369del c.*454-26_*801del c.671-26_787+231del c.268-26_615del c.293-26_409+231del c.296-26_412+231del c.*607-26_*954del c.4+30296_5-30562del (n.4+30296_5-30562del) c.-43-20365_-43-19992del (n.-43-20365_-43-19992del) c.-99+30385_-99+30758del (n.-99+30385_-99+30758del) n.807-26_1154del n.848-26_1195del | ClinVar |
| 17 | g.43094557_43101117del | CA16043351 | BRCA1 | n.506-1235_1040del c.442-1235_976del c.442-1238_850del c.442-1238_973del c.364-1235_898del c.442-1238_784+189del c.301-1235_646+189del c.-218-6255_88del c.442-1235_853del c.301-1235_835del c.442-1235_664+189del c.364-1238_706+189del c.*356-1235_*984del c.*316-1235_*850del c.442-1235_670+1291del c.*228-1238_*759del c.442-1235_787+189del c.165-1238_573del c.190-1238_409+189del c.190-1235_412+189del c.*378-1235_*912del c.4+24067_5-30604del (n.4+24067_5-30604del) c.-44+24156_-43-20034del (n.-44+24156_-43-20034del) c.-99+24156_-99+30716del (n.-99+24156_-99+30716del) n.581-1238_1112del n.622-1238_1153del | ClinVar |
| 17 | g.43094629_43095075delinsTTTTCTACATTCATTCTGTCTTTAGTGAGTAATAAACTGCTGTTCTCATGCTGTAATGAGCTGGCATGAGTATTTGTGCCACATGGCTCCACATGCAAGTTTGAAACAGAACTACCCTGATACTTTTCTGGATGCCTCTCAGCTGCACGCTTCTCAGTGGTGTTCAAATCATTATTACTGGGTTGATGATGTTCAGTATTTGTTACATCCGTCTCAGAAAATTCACAAGCAGCTGAAAATATACAAAAATAACAAGGTACTCAAAAACTGAATTGTCATTAAAAAAATACATACTTCATACACCTTGGAGGTGGAAATCAACCAACTGGCTATATTAGAGAAACTAACCTCATAAACTACCAAGTATACTGAAGATGTAGCTCATACTCTTTCATTTAATTCCTATTTACCTAGATTATTTCCACTTAGGATCCATTAAATTTTTAA | CA2260785126 | BRCA1 | n.735-215_966delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA c.671-215_902delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA c.545-215_776delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA c.668-215_899delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA c.593-215_824delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA c.668-215_784+115delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA c.530-215_646+115delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA c.-218-215_14delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA c.548-215_779delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA c.530-215_761delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA c.548-215_664+115delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA c.590-215_706+115delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA c.*679-215_*910delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA c.*545-215_*776delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA c.670+771_670+1217delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA (n.670+771_670+1217delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA) c.22-215_253delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA c.*454-215_*685delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA c.671-215_787+115delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA c.268-215_499delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA c.293-215_409+115delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA c.296-215_412+115delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA c.*607-215_*838delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA c.4+30107_4+30553delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA (n.4+30107_4+30553delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA) c.-43-20554_-43-20108delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA (n.-43-20554_-43-20108delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA) c.-99+30196_-99+30642delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA (n.-99+30196_-99+30642delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA) n.807-215_1038delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA n.848-215_1079delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA | |
| 17 | g.43094634_43095079del | CA10602598 | BRCA1 | n.735-215_965del c.671-215_901del c.545-215_775del c.668-215_898del c.593-215_823del c.668-215_784+114del c.530-215_646+114del c.-218-215_13del c.548-215_778del c.530-215_760del c.548-215_664+114del c.590-215_706+114del c.*679-215_*909del c.*545-215_*775del c.670+771_670+1216del (n.670+771_670+1216del) c.22-215_252del c.*454-215_*684del c.671-215_787+114del c.268-215_498del c.293-215_409+114del c.296-215_412+114del c.*607-215_*837del c.4+30107_4+30552del (n.4+30107_4+30552del) c.-43-20554_-43-20109del (n.-43-20554_-43-20109del) c.-99+30196_-99+30641del (n.-99+30196_-99+30641del) n.807-215_1037del n.848-215_1078del | ClinVar dbSNP |
| 17 | g.43094683_43094693delinsAATGAGCTGGC | CA2260785182 | BRCA1 | n.902_912delinsGCCAGCTCATT c.838_848delinsGCCAGCTCATT (p.Ala280=) c.712_722delinsGCCAGCTCATT (p.Ala238=) c.835_845delinsGCCAGCTCATT (p.Ala279=) c.760_770delinsGCCAGCTCATT (p.Ala254=) c.784+51_784+61delinsGCCAGCTCATT (n.784+51_784+61delinsGCCAGCTCATT) c.646+51_646+61delinsGCCAGCTCATT (n.646+51_646+61delinsGCCAGCTCATT) c.-51_-41delinsGCCAGCTCATT (n.-51_-41delinsGCCAGCTCATT) c.715_725delinsGCCAGCTCATT (p.Ala239=) c.697_707delinsGCCAGCTCATT (p.Ala233=) c.664+51_664+61delinsGCCAGCTCATT (n.664+51_664+61delinsGCCAGCTCATT) c.706+51_706+61delinsGCCAGCTCATT (n.706+51_706+61delinsGCCAGCTCATT) c.*846_*856delinsGCCAGCTCATT (n.*846_*856delinsGCCAGCTCATT) c.*712_*722delinsGCCAGCTCATT (n.*712_*722delinsGCCAGCTCATT) c.670+1153_670+1163delinsGCCAGCTCATT (n.670+1153_670+1163delinsGCCAGCTCATT) c.189_199delinsGCCAGCTCATT c.*621_*631delinsGCCAGCTCATT (n.*621_*631delinsGCCAGCTCATT) c.787+51_787+61delinsGCCAGCTCATT (n.787+51_787+61delinsGCCAGCTCATT) c.435_445delinsGCCAGCTCATT c.409+51_409+61delinsGCCAGCTCATT (n.409+51_409+61delinsGCCAGCTCATT) c.412+51_412+61delinsGCCAGCTCATT (n.412+51_412+61delinsGCCAGCTCATT) c.*774_*784delinsGCCAGCTCATT (n.*774_*784delinsGCCAGCTCATT) c.4+30489_4+30499delinsGCCAGCTCATT (n.4+30489_4+30499delinsGCCAGCTCATT) c.-43-20172_-43-20162delinsGCCAGCTCATT (n.-43-20172_-43-20162delinsGCCAGCTCATT) c.-99+30578_-99+30588delinsGCCAGCTCATT (n.-99+30578_-99+30588delinsGCCAGCTCATT) n.974_984delinsGCCAGCTCATT n.1015_1025delinsGCCAGCTCATT | |
| 17 | g.43094689_43094698del | CA1139664805 | BRCA1 | n.902_911del c.838_847del (p.Ala280TyrfsTer15) c.712_721del (p.Ala238TyrfsTer15) c.835_844del (p.Ala279TyrfsTer15) c.760_769del (p.Ala254TyrfsTer15) c.784+51_784+60del (n.784+51_784+60del) c.646+51_646+60del (n.646+51_646+60del) c.-51_-42del (n.-51_-42del) c.715_724del (p.Ala239TyrfsTer15) c.697_706del (p.Ala233TyrfsTer15) c.664+51_664+60del (n.664+51_664+60del) c.706+51_706+60del (n.706+51_706+60del) c.*846_*855del (n.*846_*855del) c.*712_*721del (n.*712_*721del) c.670+1153_670+1162del (n.670+1153_670+1162del) c.189_198del c.*621_*630del (n.*621_*630del) c.787+51_787+60del (n.787+51_787+60del) c.435_444del c.409+51_409+60del (n.409+51_409+60del) c.412+51_412+60del (n.412+51_412+60del) c.*774_*783del (n.*774_*783del) c.4+30489_4+30498del (n.4+30489_4+30498del) c.-43-20172_-43-20163del (n.-43-20172_-43-20163del) c.-99+30578_-99+30587del (n.-99+30578_-99+30587del) n.974_983del n.1015_1024del | ClinVar dbSNP |
| 17 | g.43094690_43095554del | CA2573154052 | BRCA1 | n.734+295_908del c.670+295_844del c.545-691_718del c.667+295_841del c.592+295_766del c.667+295_784+57del c.529+295_646+57del c.-218-691_-45del c.548-691_721del c.529+295_703del c.548-691_664+57del c.589+295_706+57del c.*678+295_*852del c.*544+295_*718del c.670+295_670+1159del (n.670+295_670+1159del) c.21+295_195del c.*453+295_*627del c.670+295_787+57del c.268-691_441del c.293-691_409+57del c.296-691_412+57del c.*606+295_*780del c.4+29631_4+30495del (n.4+29631_4+30495del) c.-43-21030_-43-20166del (n.-43-21030_-43-20166del) c.-99+29720_-99+30584del (n.-99+29720_-99+30584del) n.806+295_980del n.847+295_1021del | ClinVar dbSNP |
| 17 | g.43094692del | CA2499224580 | BRCA1 | n.904del c.840del (p.Ser281AlafsTer17) c.714del (p.Ser239AlafsTer17) c.837del (p.Ser280AlafsTer17) c.762del (p.Ser255AlafsTer17) c.784+53del (n.784+53del) c.646+53del (n.646+53del) c.-49del (n.-49del) c.717del (p.Ser240AlafsTer17) c.699del (p.Ser234AlafsTer17) c.664+53del (n.664+53del) c.706+53del (n.706+53del) c.*848del (n.*848del) c.*714del (n.*714del) c.670+1155del (n.670+1155del) c.191del c.*623del (n.*623del) c.787+53del (n.787+53del) c.437del c.409+53del (n.409+53del) c.412+53del (n.412+53del) c.*776del (n.*776del) c.4+30491del (n.4+30491del) c.-43-20170del (n.-43-20170del) c.-99+30580del (n.-99+30580del) n.976del n.1017del | |
| 17 | g.43094692G>A | CA10600404 | BRCA1 | n.903C>T c.839C>T (p.Ala280Val) c.713C>T (p.Ala238Val) c.836C>T (p.Ala279Val) c.761C>T (p.Ala254Val) c.784+52C>T (n.784+52C>T) c.646+52C>T (n.646+52C>T) c.-50C>T (n.-50C>T) c.716C>T (p.Ala239Val) c.698C>T (p.Ala233Val) c.664+52C>T (n.664+52C>T) c.706+52C>T (n.706+52C>T) c.*847C>T (n.*847C>T) c.*713C>T (n.*713C>T) c.670+1154C>T (n.670+1154C>T) c.190C>T c.*622C>T (n.*622C>T) c.787+52C>T (n.787+52C>T) c.436C>T c.409+52C>T (n.409+52C>T) c.412+52C>T (n.412+52C>T) c.*775C>T (n.*775C>T) c.4+30490C>T (n.4+30490C>T) c.-43-20171C>T (n.-43-20171C>T) c.-99+30579C>T (n.-99+30579C>T) n.975C>T n.1016C>T | dbSNP |
| 17 | g.43094692G>C | CA003932 | BRCA1 | n.903C>G c.839C>G (p.Ala280Gly) c.713C>G (p.Ala238Gly) c.836C>G (p.Ala279Gly) c.761C>G (p.Ala254Gly) c.784+52C>G (n.784+52C>G) c.646+52C>G (n.646+52C>G) c.-50C>G (n.-50C>G) c.716C>G (p.Ala239Gly) c.698C>G (p.Ala233Gly) c.664+52C>G (n.664+52C>G) c.706+52C>G (n.706+52C>G) c.*847C>G (n.*847C>G) c.*713C>G (n.*713C>G) c.670+1154C>G (n.670+1154C>G) c.190C>G c.*622C>G (n.*622C>G) c.787+52C>G (n.787+52C>G) c.436C>G c.409+52C>G (n.409+52C>G) c.412+52C>G (n.412+52C>G) c.*775C>G (n.*775C>G) c.4+30490C>G (n.4+30490C>G) c.-43-20171C>G (n.-43-20171C>G) c.-99+30579C>G (n.-99+30579C>G) n.975C>G n.1016C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.43094692G= | CA2260785191 | BRCA1 | n.903C= c.839C= (p.Ala280=) c.713C= (p.Ala238=) c.836C= (p.Ala279=) c.761C= (p.Ala254=) c.784+52C= (n.784+52C=) c.646+52C= (n.646+52C=) c.-50C= (n.-50C=) c.716C= (p.Ala239=) c.698C= (p.Ala233=) c.664+52C= (n.664+52C=) c.706+52C= (n.706+52C=) c.*847C= (n.*847C=) c.*713C= (n.*713C=) c.670+1154C= (n.670+1154C=) c.190C= c.*622C= (n.*622C=) c.787+52C= (n.787+52C=) c.436C= c.409+52C= (n.409+52C=) c.412+52C= (n.412+52C=) c.*775C= (n.*775C=) c.4+30490C= (n.4+30490C=) c.-43-20171C= (n.-43-20171C=) c.-99+30579C= (n.-99+30579C=) n.975C= n.1016C= | |
| 17 | g.43094692G>T | CA10600405 | BRCA1 | n.903C>A c.839C>A (p.Ala280Asp) c.713C>A (p.Ala238Asp) c.836C>A (p.Ala279Asp) c.761C>A (p.Ala254Asp) c.784+52C>A (n.784+52C>A) c.646+52C>A (n.646+52C>A) c.-50C>A (n.-50C>A) c.716C>A (p.Ala239Asp) c.698C>A (p.Ala233Asp) c.664+52C>A (n.664+52C>A) c.706+52C>A (n.706+52C>A) c.*847C>A (n.*847C>A) c.*713C>A (n.*713C>A) c.670+1154C>A (n.670+1154C>A) c.190C>A c.*622C>A (n.*622C>A) c.787+52C>A (n.787+52C>A) c.436C>A c.409+52C>A (n.409+52C>A) c.412+52C>A (n.412+52C>A) c.*775C>A (n.*775C>A) c.4+30490C>A (n.4+30490C>A) c.-43-20171C>A (n.-43-20171C>A) c.-99+30579C>A (n.-99+30579C>A) n.975C>A n.1016C>A | ClinVar dbSNP |
| 17 | g.43094693C>A | CA10600406 | BRCA1 | n.902G>T c.838G>T (p.Ala280Ser) c.712G>T (p.Ala238Ser) c.835G>T (p.Ala279Ser) c.760G>T (p.Ala254Ser) c.784+51G>T (n.784+51G>T) c.646+51G>T (n.646+51G>T) c.-51G>T (n.-51G>T) c.715G>T (p.Ala239Ser) c.697G>T (p.Ala233Ser) c.664+51G>T (n.664+51G>T) c.706+51G>T (n.706+51G>T) c.*846G>T (n.*846G>T) c.*712G>T (n.*712G>T) c.670+1153G>T (n.670+1153G>T) c.189G>T c.*621G>T (n.*621G>T) c.787+51G>T (n.787+51G>T) c.435G>T c.409+51G>T (n.409+51G>T) c.412+51G>T (n.412+51G>T) c.*774G>T (n.*774G>T) c.4+30489G>T (n.4+30489G>T) c.-43-20172G>T (n.-43-20172G>T) c.-99+30578G>T (n.-99+30578G>T) n.974G>T n.1015G>T | dbSNP |
| 17 | g.43094693C>G | CA10600407 | BRCA1 | n.902G>C c.838G>C (p.Ala280Pro) c.712G>C (p.Ala238Pro) c.835G>C (p.Ala279Pro) c.760G>C (p.Ala254Pro) c.784+51G>C (n.784+51G>C) c.646+51G>C (n.646+51G>C) c.-51G>C (n.-51G>C) c.715G>C (p.Ala239Pro) c.697G>C (p.Ala233Pro) c.664+51G>C (n.664+51G>C) c.706+51G>C (n.706+51G>C) c.*846G>C (n.*846G>C) c.*712G>C (n.*712G>C) c.670+1153G>C (n.670+1153G>C) c.189G>C c.*621G>C (n.*621G>C) c.787+51G>C (n.787+51G>C) c.435G>C c.409+51G>C (n.409+51G>C) c.412+51G>C (n.412+51G>C) c.*774G>C (n.*774G>C) c.4+30489G>C (n.4+30489G>C) c.-43-20172G>C (n.-43-20172G>C) c.-99+30578G>C (n.-99+30578G>C) n.974G>C n.1015G>C | dbSNP |
| 17 | g.43094693C>T | CA10600408 | BRCA1 | n.902G>A c.838G>A (p.Ala280Thr) c.712G>A (p.Ala238Thr) c.835G>A (p.Ala279Thr) c.760G>A (p.Ala254Thr) c.784+51G>A (n.784+51G>A) c.646+51G>A (n.646+51G>A) c.-51G>A (n.-51G>A) c.715G>A (p.Ala239Thr) c.697G>A (p.Ala233Thr) c.664+51G>A (n.664+51G>A) c.706+51G>A (n.706+51G>A) c.*846G>A (n.*846G>A) c.*712G>A (n.*712G>A) c.670+1153G>A (n.670+1153G>A) c.189G>A c.*621G>A (n.*621G>A) c.787+51G>A (n.787+51G>A) c.435G>A c.409+51G>A (n.409+51G>A) c.412+51G>A (n.412+51G>A) c.*774G>A (n.*774G>A) c.4+30489G>A (n.4+30489G>A) c.-43-20172G>A (n.-43-20172G>A) c.-99+30578G>A (n.-99+30578G>A) n.974G>A n.1015G>A | dbSNP |
| 17 | g.43094693dup | CA1139664806 | BRCA1 | n.902dup c.838dup (p.Ala280GlyfsTer7) c.712dup (p.Ala238GlyfsTer7) c.835dup (p.Ala279GlyfsTer7) c.760dup (p.Ala254GlyfsTer7) c.784+51dup (n.784+51dup) c.646+51dup (n.646+51dup) c.-51dup (n.-51dup) c.715dup (p.Ala239GlyfsTer7) c.697dup (p.Ala233GlyfsTer7) c.664+51dup (n.664+51dup) c.706+51dup (n.706+51dup) c.*846dup (n.*846dup) c.*712dup (n.*712dup) c.670+1153dup (n.670+1153dup) c.189dup c.*621dup (n.*621dup) c.787+51dup (n.787+51dup) c.435dup c.409+51dup (n.409+51dup) c.412+51dup (n.412+51dup) c.*774dup (n.*774dup) c.4+30489dup (n.4+30489dup) c.-43-20172dup (n.-43-20172dup) c.-99+30578dup (n.-99+30578dup) n.974dup n.1015dup | ClinVar dbSNP |
| 17 | g.43094694A= | CA2260785192 | BRCA1 | n.901T= c.837T= (p.His279=) c.711T= (p.His237=) c.834T= (p.His278=) c.759T= (p.His253=) c.784+50T= (n.784+50T=) c.646+50T= (n.646+50T=) c.-52T= (n.-52T=) c.714T= (p.His238=) c.696T= (p.His232=) c.664+50T= (n.664+50T=) c.706+50T= (n.706+50T=) c.*845T= (n.*845T=) c.*711T= (n.*711T=) c.670+1152T= (n.670+1152T=) c.188T= c.*620T= (n.*620T=) c.787+50T= (n.787+50T=) c.434T= c.409+50T= (n.409+50T=) c.412+50T= (n.412+50T=) c.*773T= (n.*773T=) c.4+30488T= (n.4+30488T=) c.-43-20173T= (n.-43-20173T=) c.-99+30577T= (n.-99+30577T=) n.973T= n.1014T= | |
| 17 | g.43094694A>C | CA10600409 | BRCA1 | n.901T>G c.837T>G (p.His279Gln) c.711T>G (p.His237Gln) c.834T>G (p.His278Gln) c.759T>G (p.His253Gln) c.784+50T>G (n.784+50T>G) c.646+50T>G (n.646+50T>G) c.-52T>G (n.-52T>G) c.714T>G (p.His238Gln) c.696T>G (p.His232Gln) c.664+50T>G (n.664+50T>G) c.706+50T>G (n.706+50T>G) c.*845T>G (n.*845T>G) c.*711T>G (n.*711T>G) c.670+1152T>G (n.670+1152T>G) c.188T>G c.*620T>G (n.*620T>G) c.787+50T>G (n.787+50T>G) c.434T>G c.409+50T>G (n.409+50T>G) c.412+50T>G (n.412+50T>G) c.*773T>G (n.*773T>G) c.4+30488T>G (n.4+30488T>G) c.-43-20173T>G (n.-43-20173T>G) c.-99+30577T>G (n.-99+30577T>G) n.973T>G n.1014T>G | dbSNP |
| 17 | g.43094694A>G | CA056815 | BRCA1 | n.901T>C c.837T>C (p.His279=) c.711T>C (p.His237=) c.834T>C (p.His278=) c.759T>C (p.His253=) c.784+50T>C (n.784+50T>C) c.646+50T>C (n.646+50T>C) c.-52T>C (n.-52T>C) c.714T>C (p.His238=) c.696T>C (p.His232=) c.664+50T>C (n.664+50T>C) c.706+50T>C (n.706+50T>C) c.*845T>C (n.*845T>C) c.*711T>C (n.*711T>C) c.670+1152T>C (n.670+1152T>C) c.188T>C c.*620T>C (n.*620T>C) c.787+50T>C (n.787+50T>C) c.434T>C c.409+50T>C (n.409+50T>C) c.412+50T>C (n.412+50T>C) c.*773T>C (n.*773T>C) c.4+30488T>C (n.4+30488T>C) c.-43-20173T>C (n.-43-20173T>C) c.-99+30577T>C (n.-99+30577T>C) n.973T>C n.1014T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.43094694A>T | CA10600410 | BRCA1 | n.901T>A c.837T>A (p.His279Gln) c.711T>A (p.His237Gln) c.834T>A (p.His278Gln) c.759T>A (p.His253Gln) c.784+50T>A (n.784+50T>A) c.646+50T>A (n.646+50T>A) c.-52T>A (n.-52T>A) c.714T>A (p.His238Gln) c.696T>A (p.His232Gln) c.664+50T>A (n.664+50T>A) c.706+50T>A (n.706+50T>A) c.*845T>A (n.*845T>A) c.*711T>A (n.*711T>A) c.670+1152T>A (n.670+1152T>A) c.188T>A c.*620T>A (n.*620T>A) c.787+50T>A (n.787+50T>A) c.434T>A c.409+50T>A (n.409+50T>A) c.412+50T>A (n.412+50T>A) c.*773T>A (n.*773T>A) c.4+30488T>A (n.4+30488T>A) c.-43-20173T>A (n.-43-20173T>A) c.-99+30577T>A (n.-99+30577T>A) n.973T>A n.1014T>A | dbSNP |
| 17 | g.43094694_43094702delinsATGAGTATT | CA2260785193 | BRCA1 | n.893_901delinsAATACTCAT c.829_837delinsAATACTCAT (p.Asn277=) c.703_711delinsAATACTCAT (p.Asn235=) c.826_834delinsAATACTCAT (p.Asn276=) c.751_759delinsAATACTCAT (p.Asn251=) c.784+42_784+50delinsAATACTCAT (n.784+42_784+50delinsAATACTCAT) c.646+42_646+50delinsAATACTCAT (n.646+42_646+50delinsAATACTCAT) c.-60_-52delinsAATACTCAT (n.-60_-52delinsAATACTCAT) c.706_714delinsAATACTCAT (p.Asn236=) c.688_696delinsAATACTCAT (p.Asn230=) c.664+42_664+50delinsAATACTCAT (n.664+42_664+50delinsAATACTCAT) c.706+42_706+50delinsAATACTCAT (n.706+42_706+50delinsAATACTCAT) c.*837_*845delinsAATACTCAT (n.*837_*845delinsAATACTCAT) c.*703_*711delinsAATACTCAT (n.*703_*711delinsAATACTCAT) c.670+1144_670+1152delinsAATACTCAT (n.670+1144_670+1152delinsAATACTCAT) c.180_188delinsAATACTCAT c.*612_*620delinsAATACTCAT (n.*612_*620delinsAATACTCAT) c.787+42_787+50delinsAATACTCAT (n.787+42_787+50delinsAATACTCAT) c.426_434delinsAATACTCAT c.409+42_409+50delinsAATACTCAT (n.409+42_409+50delinsAATACTCAT) c.412+42_412+50delinsAATACTCAT (n.412+42_412+50delinsAATACTCAT) c.*765_*773delinsAATACTCAT (n.*765_*773delinsAATACTCAT) c.4+30480_4+30488delinsAATACTCAT (n.4+30480_4+30488delinsAATACTCAT) c.-43-20181_-43-20173delinsAATACTCAT (n.-43-20181_-43-20173delinsAATACTCAT) c.-99+30569_-99+30577delinsAATACTCAT (n.-99+30569_-99+30577delinsAATACTCAT) n.965_973delinsAATACTCAT n.1006_1014delinsAATACTCAT | |
| 17 | g.43094695T>A | CA10600411 | BRCA1 | n.900A>T c.836A>T (p.His279Leu) c.710A>T (p.His237Leu) c.833A>T (p.His278Leu) c.758A>T (p.His253Leu) c.784+49A>T (n.784+49A>T) c.646+49A>T (n.646+49A>T) c.-53A>T (n.-53A>T) c.713A>T (p.His238Leu) c.695A>T (p.His232Leu) c.664+49A>T (n.664+49A>T) c.706+49A>T (n.706+49A>T) c.*844A>T (n.*844A>T) c.*710A>T (n.*710A>T) c.670+1151A>T (n.670+1151A>T) c.187A>T c.*619A>T (n.*619A>T) c.787+49A>T (n.787+49A>T) c.433A>T c.409+49A>T (n.409+49A>T) c.412+49A>T (n.412+49A>T) c.*772A>T (n.*772A>T) c.4+30487A>T (n.4+30487A>T) c.-43-20174A>T (n.-43-20174A>T) c.-99+30576A>T (n.-99+30576A>T) n.972A>T n.1013A>T | ClinVar dbSNP |
| 17 | g.43094695T>C | CA003930 | BRCA1 | n.900A>G c.836A>G (p.His279Arg) c.710A>G (p.His237Arg) c.833A>G (p.His278Arg) c.758A>G (p.His253Arg) c.784+49A>G (n.784+49A>G) c.646+49A>G (n.646+49A>G) c.-53A>G (n.-53A>G) c.713A>G (p.His238Arg) c.695A>G (p.His232Arg) c.664+49A>G (n.664+49A>G) c.706+49A>G (n.706+49A>G) c.*844A>G (n.*844A>G) c.*710A>G (n.*710A>G) c.670+1151A>G (n.670+1151A>G) c.187A>G c.*619A>G (n.*619A>G) c.787+49A>G (n.787+49A>G) c.433A>G c.409+49A>G (n.409+49A>G) c.412+49A>G (n.412+49A>G) c.*772A>G (n.*772A>G) c.4+30487A>G (n.4+30487A>G) c.-43-20174A>G (n.-43-20174A>G) c.-99+30576A>G (n.-99+30576A>G) n.972A>G n.1013A>G | ClinVar dbSNP gnomAD v4 |
| 17 | g.43094695T>G | CA10600412 | BRCA1 | n.900A>C c.836A>C (p.His279Pro) c.710A>C (p.His237Pro) c.833A>C (p.His278Pro) c.758A>C (p.His253Pro) c.784+49A>C (n.784+49A>C) c.646+49A>C (n.646+49A>C) c.-53A>C (n.-53A>C) c.713A>C (p.His238Pro) c.695A>C (p.His232Pro) c.664+49A>C (n.664+49A>C) c.706+49A>C (n.706+49A>C) c.*844A>C (n.*844A>C) c.*710A>C (n.*710A>C) c.670+1151A>C (n.670+1151A>C) c.187A>C c.*619A>C (n.*619A>C) c.787+49A>C (n.787+49A>C) c.433A>C c.409+49A>C (n.409+49A>C) c.412+49A>C (n.412+49A>C) c.*772A>C (n.*772A>C) c.4+30487A>C (n.4+30487A>C) c.-43-20174A>C (n.-43-20174A>C) c.-99+30576A>C (n.-99+30576A>C) n.972A>C n.1013A>C | dbSNP gnomAD v4 |
| 17 | g.43094695T= | CA2260785195 | BRCA1 | n.900A= c.836A= (p.His279=) c.710A= (p.His237=) c.833A= (p.His278=) c.758A= (p.His253=) c.784+49A= (n.784+49A=) c.646+49A= (n.646+49A=) c.-53A= (n.-53A=) c.713A= (p.His238=) c.695A= (p.His232=) c.664+49A= (n.664+49A=) c.706+49A= (n.706+49A=) c.*844A= (n.*844A=) c.*710A= (n.*710A=) c.670+1151A= (n.670+1151A=) c.187A= c.*619A= (n.*619A=) c.787+49A= (n.787+49A=) c.433A= c.409+49A= (n.409+49A=) c.412+49A= (n.412+49A=) c.*772A= (n.*772A=) c.4+30487A= (n.4+30487A=) c.-43-20174A= (n.-43-20174A=) c.-99+30576A= (n.-99+30576A=) n.972A= n.1013A= | |
| 17 | g.43094695_43094696delinsTG | CA2260785194 | BRCA1 | n.899_900delinsCA c.835_836delinsCA (p.His279=) c.709_710delinsCA (p.His237=) c.832_833delinsCA (p.His278=) c.757_758delinsCA (p.His253=) c.784+48_784+49delinsCA (n.784+48_784+49delinsCA) c.646+48_646+49delinsCA (n.646+48_646+49delinsCA) c.-54_-53delinsCA (n.-54_-53delinsCA) c.712_713delinsCA (p.His238=) c.694_695delinsCA (p.His232=) c.664+48_664+49delinsCA (n.664+48_664+49delinsCA) c.706+48_706+49delinsCA (n.706+48_706+49delinsCA) c.*843_*844delinsCA (n.*843_*844delinsCA) c.*709_*710delinsCA (n.*709_*710delinsCA) c.670+1150_670+1151delinsCA (n.670+1150_670+1151delinsCA) c.186_187delinsCA c.*618_*619delinsCA (n.*618_*619delinsCA) c.787+48_787+49delinsCA (n.787+48_787+49delinsCA) c.432_433delinsCA c.409+48_409+49delinsCA (n.409+48_409+49delinsCA) c.412+48_412+49delinsCA (n.412+48_412+49delinsCA) c.*771_*772delinsCA (n.*771_*772delinsCA) c.4+30486_4+30487delinsCA (n.4+30486_4+30487delinsCA) c.-43-20175_-43-20174delinsCA (n.-43-20175_-43-20174delinsCA) c.-99+30575_-99+30576delinsCA (n.-99+30575_-99+30576delinsCA) n.971_972delinsCA n.1012_1013delinsCA | |
| 17 | g.43094697_43094704del | CA10589987 | BRCA1 | n.893_900del c.829_836del (p.Asn277CysfsTer7) c.703_710del (p.Asn235CysfsTer7) c.826_833del (p.Asn276CysfsTer7) c.751_758del (p.Asn251CysfsTer7) c.784+42_784+49del (n.784+42_784+49del) c.646+42_646+49del (n.646+42_646+49del) c.-60_-53del (n.-60_-53del) c.706_713del (p.Asn236CysfsTer7) c.688_695del (p.Asn230CysfsTer7) c.664+42_664+49del (n.664+42_664+49del) c.706+42_706+49del (n.706+42_706+49del) c.*837_*844del (n.*837_*844del) c.*703_*710del (n.*703_*710del) c.670+1144_670+1151del (n.670+1144_670+1151del) c.180_187del c.*612_*619del (n.*612_*619del) c.787+42_787+49del (n.787+42_787+49del) c.426_433del c.409+42_409+49del (n.409+42_409+49del) c.412+42_412+49del (n.412+42_412+49del) c.*765_*772del (n.*765_*772del) c.4+30480_4+30487del (n.4+30480_4+30487del) c.-43-20181_-43-20174del (n.-43-20181_-43-20174del) c.-99+30569_-99+30576del (n.-99+30569_-99+30576del) n.965_972del n.1006_1013del | ClinVar dbSNP |
| 17 | g.43094696del | CA003929 | BRCA1 | n.899del c.835del (p.His279MetfsTer19) c.709del (p.His237MetfsTer19) c.832del (p.His278MetfsTer19) c.757del (p.His253MetfsTer19) c.784+48del (n.784+48del) c.646+48del (n.646+48del) c.-54del (n.-54del) c.712del (p.His238MetfsTer19) c.694del (p.His232MetfsTer19) c.664+48del (n.664+48del) c.706+48del (n.706+48del) c.*843del (n.*843del) c.*709del (n.*709del) c.670+1150del (n.670+1150del) c.186del c.*618del (n.*618del) c.787+48del (n.787+48del) c.432del c.409+48del (n.409+48del) c.412+48del (n.412+48del) c.*771del (n.*771del) c.4+30486del (n.4+30486del) c.-43-20175del (n.-43-20175del) c.-99+30575del (n.-99+30575del) n.971del n.1012del | ClinVar dbSNP |
| 17 | g.43094696G>A | CA10600413 | BRCA1 | n.899C>T c.835C>T (p.His279Tyr) c.709C>T (p.His237Tyr) c.832C>T (p.His278Tyr) c.757C>T (p.His253Tyr) c.784+48C>T (n.784+48C>T) c.646+48C>T (n.646+48C>T) c.-54C>T (n.-54C>T) c.712C>T (p.His238Tyr) c.694C>T (p.His232Tyr) c.664+48C>T (n.664+48C>T) c.706+48C>T (n.706+48C>T) c.*843C>T (n.*843C>T) c.*709C>T (n.*709C>T) c.670+1150C>T (n.670+1150C>T) c.186C>T c.*618C>T (n.*618C>T) c.787+48C>T (n.787+48C>T) c.432C>T c.409+48C>T (n.409+48C>T) c.412+48C>T (n.412+48C>T) c.*771C>T (n.*771C>T) c.4+30486C>T (n.4+30486C>T) c.-43-20175C>T (n.-43-20175C>T) c.-99+30575C>T (n.-99+30575C>T) n.971C>T n.1012C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.43094696G>C | CA10600414 | BRCA1 | n.899C>G c.835C>G (p.His279Asp) c.709C>G (p.His237Asp) c.832C>G (p.His278Asp) c.757C>G (p.His253Asp) c.784+48C>G (n.784+48C>G) c.646+48C>G (n.646+48C>G) c.-54C>G (n.-54C>G) c.712C>G (p.His238Asp) c.694C>G (p.His232Asp) c.664+48C>G (n.664+48C>G) c.706+48C>G (n.706+48C>G) c.*843C>G (n.*843C>G) c.*709C>G (n.*709C>G) c.670+1150C>G (n.670+1150C>G) c.186C>G c.*618C>G (n.*618C>G) c.787+48C>G (n.787+48C>G) c.432C>G c.409+48C>G (n.409+48C>G) c.412+48C>G (n.412+48C>G) c.*771C>G (n.*771C>G) c.4+30486C>G (n.4+30486C>G) c.-43-20175C>G (n.-43-20175C>G) c.-99+30575C>G (n.-99+30575C>G) n.971C>G n.1012C>G | dbSNP gnomAD v4 |
| 17 | g.43094696G= | CA2260785196 | BRCA1 | n.899C= c.835C= (p.His279=) c.709C= (p.His237=) c.832C= (p.His278=) c.757C= (p.His253=) c.784+48C= (n.784+48C=) c.646+48C= (n.646+48C=) c.-54C= (n.-54C=) c.712C= (p.His238=) c.694C= (p.His232=) c.664+48C= (n.664+48C=) c.706+48C= (n.706+48C=) c.*843C= (n.*843C=) c.*709C= (n.*709C=) c.670+1150C= (n.670+1150C=) c.186C= c.*618C= (n.*618C=) c.787+48C= (n.787+48C=) c.432C= c.409+48C= (n.409+48C=) c.412+48C= (n.412+48C=) c.*771C= (n.*771C=) c.4+30486C= (n.4+30486C=) c.-43-20175C= (n.-43-20175C=) c.-99+30575C= (n.-99+30575C=) n.971C= n.1012C= | |
| 17 | g.43094696G>T | CA10600415 | BRCA1 | n.899C>A c.835C>A (p.His279Asn) c.709C>A (p.His237Asn) c.832C>A (p.His278Asn) c.757C>A (p.His253Asn) c.784+48C>A (n.784+48C>A) c.646+48C>A (n.646+48C>A) c.-54C>A (n.-54C>A) c.712C>A (p.His238Asn) c.694C>A (p.His232Asn) c.664+48C>A (n.664+48C>A) c.706+48C>A (n.706+48C>A) c.*843C>A (n.*843C>A) c.*709C>A (n.*709C>A) c.670+1150C>A (n.670+1150C>A) c.186C>A c.*618C>A (n.*618C>A) c.787+48C>A (n.787+48C>A) c.432C>A c.409+48C>A (n.409+48C>A) c.412+48C>A (n.412+48C>A) c.*771C>A (n.*771C>A) c.4+30486C>A (n.4+30486C>A) c.-43-20175C>A (n.-43-20175C>A) c.-99+30575C>A (n.-99+30575C>A) n.971C>A n.1012C>A | dbSNP |
| 17 | g.43094696_43094697insT | CA658824552 | BRCA1 | n.898_899insA c.834_835insA (p.His279ThrfsTer8) c.708_709insA (p.His237ThrfsTer8) c.831_832insA (p.His278ThrfsTer8) c.756_757insA (p.His253ThrfsTer8) c.784+47_784+48insA (n.784+47_784+48insA) c.646+47_646+48insA (n.646+47_646+48insA) c.-55_-54insA (n.-55_-54insA) c.711_712insA (p.His238ThrfsTer8) c.693_694insA (p.His232ThrfsTer8) c.664+47_664+48insA (n.664+47_664+48insA) c.706+47_706+48insA (n.706+47_706+48insA) c.*842_*843insA (n.*842_*843insA) c.*708_*709insA (n.*708_*709insA) c.670+1149_670+1150insA (n.670+1149_670+1150insA) c.185_186insA c.*617_*618insA (n.*617_*618insA) c.787+47_787+48insA (n.787+47_787+48insA) c.431_432insA c.409+47_409+48insA (n.409+47_409+48insA) c.412+47_412+48insA (n.412+47_412+48insA) c.*770_*771insA (n.*770_*771insA) c.4+30485_4+30486insA (n.4+30485_4+30486insA) c.-43-20176_-43-20175insA (n.-43-20176_-43-20175insA) c.-99+30574_-99+30575insA (n.-99+30574_-99+30575insA) n.970_971insA n.1011_1012insA | ClinVar dbSNP |
| 17 | g.43094697A= | CA2260785197 | BRCA1 | n.898T= c.834T= (p.Thr278=) c.708T= (p.Thr236=) c.831T= (p.Thr277=) c.756T= (p.Thr252=) c.784+47T= (n.784+47T=) c.646+47T= (n.646+47T=) c.-55T= (n.-55T=) c.711T= (p.Thr237=) c.693T= (p.Thr231=) c.664+47T= (n.664+47T=) c.706+47T= (n.706+47T=) c.*842T= (n.*842T=) c.*708T= (n.*708T=) c.670+1149T= (n.670+1149T=) c.185T= c.*617T= (n.*617T=) c.787+47T= (n.787+47T=) c.431T= c.409+47T= (n.409+47T=) c.412+47T= (n.412+47T=) c.*770T= (n.*770T=) c.4+30485T= (n.4+30485T=) c.-43-20176T= (n.-43-20176T=) c.-99+30574T= (n.-99+30574T=) n.970T= n.1011T= | |
| 17 | g.43094697A>C | CA003928 | BRCA1 | n.898T>G c.834T>G (p.Thr278=) c.708T>G (p.Thr236=) c.831T>G (p.Thr277=) c.756T>G (p.Thr252=) c.784+47T>G (n.784+47T>G) c.646+47T>G (n.646+47T>G) c.-55T>G (n.-55T>G) c.711T>G (p.Thr237=) c.693T>G (p.Thr231=) c.664+47T>G (n.664+47T>G) c.706+47T>G (n.706+47T>G) c.*842T>G (n.*842T>G) c.*708T>G (n.*708T>G) c.670+1149T>G (n.670+1149T>G) c.185T>G c.*617T>G (n.*617T>G) c.787+47T>G (n.787+47T>G) c.431T>G c.409+47T>G (n.409+47T>G) c.412+47T>G (n.412+47T>G) c.*770T>G (n.*770T>G) c.4+30485T>G (n.4+30485T>G) c.-43-20176T>G (n.-43-20176T>G) c.-99+30574T>G (n.-99+30574T>G) n.970T>G n.1011T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.43094697A>G | CA500233391 | BRCA1 | n.898T>C c.834T>C (p.Thr278=) c.708T>C (p.Thr236=) c.831T>C (p.Thr277=) c.756T>C (p.Thr252=) c.784+47T>C (n.784+47T>C) c.646+47T>C (n.646+47T>C) c.-55T>C (n.-55T>C) c.711T>C (p.Thr237=) c.693T>C (p.Thr231=) c.664+47T>C (n.664+47T>C) c.706+47T>C (n.706+47T>C) c.*842T>C (n.*842T>C) c.*708T>C (n.*708T>C) c.670+1149T>C (n.670+1149T>C) c.185T>C c.*617T>C (n.*617T>C) c.787+47T>C (n.787+47T>C) c.431T>C c.409+47T>C (n.409+47T>C) c.412+47T>C (n.412+47T>C) c.*770T>C (n.*770T>C) c.4+30485T>C (n.4+30485T>C) c.-43-20176T>C (n.-43-20176T>C) c.-99+30574T>C (n.-99+30574T>C) n.970T>C n.1011T>C | dbSNP |
| 17 | g.43094697A>T | CA500233392 | BRCA1 | n.898T>A c.834T>A (p.Thr278=) c.708T>A (p.Thr236=) c.831T>A (p.Thr277=) c.756T>A (p.Thr252=) c.784+47T>A (n.784+47T>A) c.646+47T>A (n.646+47T>A) c.-55T>A (n.-55T>A) c.711T>A (p.Thr237=) c.693T>A (p.Thr231=) c.664+47T>A (n.664+47T>A) c.706+47T>A (n.706+47T>A) c.*842T>A (n.*842T>A) c.*708T>A (n.*708T>A) c.670+1149T>A (n.670+1149T>A) c.185T>A c.*617T>A (n.*617T>A) c.787+47T>A (n.787+47T>A) c.431T>A c.409+47T>A (n.409+47T>A) c.412+47T>A (n.412+47T>A) c.*770T>A (n.*770T>A) c.4+30485T>A (n.4+30485T>A) c.-43-20176T>A (n.-43-20176T>A) c.-99+30574T>A (n.-99+30574T>A) n.970T>A n.1011T>A | ClinVar dbSNP |
| 17 | g.43094697_43094698insT | CA003927 | BRCA1 | n.897_898insA c.833_834insA (p.His279SerfsTer8) c.707_708insA (p.His237SerfsTer8) c.830_831insA (p.His278SerfsTer8) c.755_756insA (p.His253SerfsTer8) c.784+46_784+47insA (n.784+46_784+47insA) c.646+46_646+47insA (n.646+46_646+47insA) c.-56_-55insA (n.-56_-55insA) c.710_711insA (p.His238SerfsTer8) c.692_693insA (p.His232SerfsTer8) c.664+46_664+47insA (n.664+46_664+47insA) c.706+46_706+47insA (n.706+46_706+47insA) c.*841_*842insA (n.*841_*842insA) c.*707_*708insA (n.*707_*708insA) c.670+1148_670+1149insA (n.670+1148_670+1149insA) c.184_185insA c.*616_*617insA (n.*616_*617insA) c.787+46_787+47insA (n.787+46_787+47insA) c.430_431insA c.409+46_409+47insA (n.409+46_409+47insA) c.412+46_412+47insA (n.412+46_412+47insA) c.*769_*770insA (n.*769_*770insA) c.4+30484_4+30485insA (n.4+30484_4+30485insA) c.-43-20177_-43-20176insA (n.-43-20177_-43-20176insA) c.-99+30573_-99+30574insA (n.-99+30573_-99+30574insA) n.969_970insA n.1010_1011insA | ClinVar dbSNP |
| 17 | g.43094698G>A | CA10600416 | BRCA1 | n.897C>T c.833C>T (p.Thr278Ile) c.707C>T (p.Thr236Ile) c.830C>T (p.Thr277Ile) c.755C>T (p.Thr252Ile) c.784+46C>T (n.784+46C>T) c.646+46C>T (n.646+46C>T) c.-56C>T (n.-56C>T) c.710C>T (p.Thr237Ile) c.692C>T (p.Thr231Ile) c.664+46C>T (n.664+46C>T) c.706+46C>T (n.706+46C>T) c.*841C>T (n.*841C>T) c.*707C>T (n.*707C>T) c.670+1148C>T (n.670+1148C>T) c.184C>T c.*616C>T (n.*616C>T) c.787+46C>T (n.787+46C>T) c.430C>T c.409+46C>T (n.409+46C>T) c.412+46C>T (n.412+46C>T) c.*769C>T (n.*769C>T) c.4+30484C>T (n.4+30484C>T) c.-43-20177C>T (n.-43-20177C>T) c.-99+30573C>T (n.-99+30573C>T) n.969C>T n.1010C>T | ClinVar dbSNP gnomAD v4 |
| 17 | g.43094698G>C | CA10600417 | BRCA1 | n.897C>G c.833C>G (p.Thr278Ser) c.707C>G (p.Thr236Ser) c.830C>G (p.Thr277Ser) c.755C>G (p.Thr252Ser) c.784+46C>G (n.784+46C>G) c.646+46C>G (n.646+46C>G) c.-56C>G (n.-56C>G) c.710C>G (p.Thr237Ser) c.692C>G (p.Thr231Ser) c.664+46C>G (n.664+46C>G) c.706+46C>G (n.706+46C>G) c.*841C>G (n.*841C>G) c.*707C>G (n.*707C>G) c.670+1148C>G (n.670+1148C>G) c.184C>G c.*616C>G (n.*616C>G) c.787+46C>G (n.787+46C>G) c.430C>G c.409+46C>G (n.409+46C>G) c.412+46C>G (n.412+46C>G) c.*769C>G (n.*769C>G) c.4+30484C>G (n.4+30484C>G) c.-43-20177C>G (n.-43-20177C>G) c.-99+30573C>G (n.-99+30573C>G) n.969C>G n.1010C>G | dbSNP |
| 17 | g.43094698G= | CA2260785198 | BRCA1 | n.897C= c.833C= (p.Thr278=) c.707C= (p.Thr236=) c.830C= (p.Thr277=) c.755C= (p.Thr252=) c.784+46C= (n.784+46C=) c.646+46C= (n.646+46C=) c.-56C= (n.-56C=) c.710C= (p.Thr237=) c.692C= (p.Thr231=) c.664+46C= (n.664+46C=) c.706+46C= (n.706+46C=) c.*841C= (n.*841C=) c.*707C= (n.*707C=) c.670+1148C= (n.670+1148C=) c.184C= c.*616C= (n.*616C=) c.787+46C= (n.787+46C=) c.430C= c.409+46C= (n.409+46C=) c.412+46C= (n.412+46C=) c.*769C= (n.*769C=) c.4+30484C= (n.4+30484C=) c.-43-20177C= (n.-43-20177C=) c.-99+30573C= (n.-99+30573C=) n.969C= n.1010C= | |
| 17 | g.43094698G>T | CA10600418 | BRCA1 | n.897C>A c.833C>A (p.Thr278Asn) c.707C>A (p.Thr236Asn) c.830C>A (p.Thr277Asn) c.755C>A (p.Thr252Asn) c.784+46C>A (n.784+46C>A) c.646+46C>A (n.646+46C>A) c.-56C>A (n.-56C>A) c.710C>A (p.Thr237Asn) c.692C>A (p.Thr231Asn) c.664+46C>A (n.664+46C>A) c.706+46C>A (n.706+46C>A) c.*841C>A (n.*841C>A) c.*707C>A (n.*707C>A) c.670+1148C>A (n.670+1148C>A) c.184C>A c.*616C>A (n.*616C>A) c.787+46C>A (n.787+46C>A) c.430C>A c.409+46C>A (n.409+46C>A) c.412+46C>A (n.412+46C>A) c.*769C>A (n.*769C>A) c.4+30484C>A (n.4+30484C>A) c.-43-20177C>A (n.-43-20177C>A) c.-99+30573C>A (n.-99+30573C>A) n.969C>A n.1010C>A |