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.43094634_43094640delinsTACATTC | CA2260785132 | BRCA1 | n.955_961delinsGAATGTA c.891_897delinsGAATGTA (p.Met297=) c.765_771delinsGAATGTA (p.Met255=) c.888_894delinsGAATGTA (p.Met296=) c.813_819delinsGAATGTA (p.Met271=) c.784+104_784+110delinsGAATGTA (n.784+104_784+110delinsGAATGTA) c.646+104_646+110delinsGAATGTA (n.646+104_646+110delinsGAATGTA) c.3_9delinsGAATGTA (p.Met1=) c.768_774delinsGAATGTA (p.Met256=) c.750_756delinsGAATGTA (p.Met250=) c.664+104_664+110delinsGAATGTA (n.664+104_664+110delinsGAATGTA) c.706+104_706+110delinsGAATGTA (n.706+104_706+110delinsGAATGTA) c.*899_*905delinsGAATGTA (n.*899_*905delinsGAATGTA) c.*765_*771delinsGAATGTA (n.*765_*771delinsGAATGTA) c.670+1206_670+1212delinsGAATGTA (n.670+1206_670+1212delinsGAATGTA) c.242_248delinsGAATGTA c.*674_*680delinsGAATGTA (n.*674_*680delinsGAATGTA) c.787+104_787+110delinsGAATGTA (n.787+104_787+110delinsGAATGTA) c.488_494delinsGAATGTA c.409+104_409+110delinsGAATGTA (n.409+104_409+110delinsGAATGTA) c.412+104_412+110delinsGAATGTA (n.412+104_412+110delinsGAATGTA) c.*827_*833delinsGAATGTA (n.*827_*833delinsGAATGTA) c.4+30542_4+30548delinsGAATGTA (n.4+30542_4+30548delinsGAATGTA) c.-43-20119_-43-20113delinsGAATGTA (n.-43-20119_-43-20113delinsGAATGTA) c.-99+30631_-99+30637delinsGAATGTA (n.-99+30631_-99+30637delinsGAATGTA) n.1027_1033delinsGAATGTA n.1068_1074delinsGAATGTA | |
17 | g.43094636_43094637del | CA003953 | BRCA1 | n.959_960del c.895_896del (p.Val299ArgfsTer4) c.769_770del (p.Val257ArgfsTer4) c.892_893del (p.Val298ArgfsTer4) c.817_818del (p.Val273ArgfsTer4) c.784+108_784+109del (n.784+108_784+109del) c.646+108_646+109del (n.646+108_646+109del) c.7_8del (p.Val3ArgfsTer4) c.772_773del (p.Val258ArgfsTer4) c.754_755del (p.Val252ArgfsTer4) c.664+108_664+109del (n.664+108_664+109del) c.706+108_706+109del (n.706+108_706+109del) c.*903_*904del (n.*903_*904del) c.*769_*770del (n.*769_*770del) c.670+1210_670+1211del (n.670+1210_670+1211del) c.246_247del c.*678_*679del (n.*678_*679del) c.787+108_787+109del (n.787+108_787+109del) c.492_493del c.409+108_409+109del (n.409+108_409+109del) c.412+108_412+109del (n.412+108_412+109del) c.*831_*832del (n.*831_*832del) c.4+30546_4+30547del (n.4+30546_4+30547del) c.-43-20115_-43-20114del (n.-43-20115_-43-20114del) c.-99+30635_-99+30636del (n.-99+30635_-99+30636del) n.1031_1032del n.1072_1073del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43094635_43094640delinsGA | CA16620442 | BRCA1 | n.955_960delinsTC c.891_896delinsTC (p.Met297IlefsTer16) c.765_770delinsTC (p.Met255IlefsTer16) c.888_893delinsTC (p.Met296IlefsTer16) c.813_818delinsTC (p.Met271IlefsTer16) c.784+104_784+109delinsTC (n.784+104_784+109delinsTC) c.646+104_646+109delinsTC (n.646+104_646+109delinsTC) c.3_8delinsTC (p.Met1IlefsTer16) c.768_773delinsTC (p.Met256IlefsTer16) c.750_755delinsTC (p.Met250IlefsTer16) c.664+104_664+109delinsTC (n.664+104_664+109delinsTC) c.706+104_706+109delinsTC (n.706+104_706+109delinsTC) c.*899_*904delinsTC (n.*899_*904delinsTC) c.*765_*770delinsTC (n.*765_*770delinsTC) c.670+1206_670+1211delinsTC (n.670+1206_670+1211delinsTC) c.242_247delinsTC c.*674_*679delinsTC (n.*674_*679delinsTC) c.787+104_787+109delinsTC (n.787+104_787+109delinsTC) c.488_493delinsTC c.409+104_409+109delinsTC (n.409+104_409+109delinsTC) c.412+104_412+109delinsTC (n.412+104_412+109delinsTC) c.*827_*832delinsTC (n.*827_*832delinsTC) c.4+30542_4+30547delinsTC (n.4+30542_4+30547delinsTC) c.-43-20119_-43-20114delinsTC (n.-43-20119_-43-20114delinsTC) c.-99+30631_-99+30636delinsTC (n.-99+30631_-99+30636delinsTC) n.1027_1032delinsTC n.1068_1073delinsTC | ClinVar dbSNP |
17 | g.43094636_43094637delinsAC | CA2582342174 | BRCA1 | n.958_959delinsGT c.894_895delinsGT (p.Asn298_Val299delinsLysLeu) c.768_769delinsGT (p.Asn256_Val257delinsLysLeu) c.891_892delinsGT (p.Asn297_Val298delinsLysLeu) c.816_817delinsGT (p.Asn272_Val273delinsLysLeu) c.784+107_784+108delinsGT (n.784+107_784+108delinsGT) c.646+107_646+108delinsGT (n.646+107_646+108delinsGT) c.6_7delinsGT (p.Asn2_Val3delinsLysLeu) c.771_772delinsGT (p.Asn257_Val258delinsLysLeu) c.753_754delinsGT (p.Asn251_Val252delinsLysLeu) c.664+107_664+108delinsGT (n.664+107_664+108delinsGT) c.706+107_706+108delinsGT (n.706+107_706+108delinsGT) c.*902_*903delinsGT (n.*902_*903delinsGT) c.*768_*769delinsGT (n.*768_*769delinsGT) c.670+1209_670+1210delinsGT (n.670+1209_670+1210delinsGT) c.245_246delinsGT c.*677_*678delinsGT (n.*677_*678delinsGT) c.787+107_787+108delinsGT (n.787+107_787+108delinsGT) c.491_492delinsGT c.409+107_409+108delinsGT (n.409+107_409+108delinsGT) c.412+107_412+108delinsGT (n.412+107_412+108delinsGT) c.*830_*831delinsGT (n.*830_*831delinsGT) c.4+30545_4+30546delinsGT (n.4+30545_4+30546delinsGT) c.-43-20116_-43-20115delinsGT (n.-43-20116_-43-20115delinsGT) c.-99+30634_-99+30635delinsGT (n.-99+30634_-99+30635delinsGT) n.1030_1031delinsGT n.1071_1072delinsGT | ClinVar |
17 | g.43094636_43094637delinsCA | CA2260785134 | BRCA1 | n.958_959delinsTG c.894_895delinsTG (p.Asn298=) c.768_769delinsTG (p.Asn256=) c.891_892delinsTG (p.Asn297=) c.816_817delinsTG (p.Asn272=) c.784+107_784+108delinsTG (n.784+107_784+108delinsTG) c.646+107_646+108delinsTG (n.646+107_646+108delinsTG) c.6_7delinsTG (p.Asn2=) c.771_772delinsTG (p.Asn257=) c.753_754delinsTG (p.Asn251=) c.664+107_664+108delinsTG (n.664+107_664+108delinsTG) c.706+107_706+108delinsTG (n.706+107_706+108delinsTG) c.*902_*903delinsTG (n.*902_*903delinsTG) c.*768_*769delinsTG (n.*768_*769delinsTG) c.670+1209_670+1210delinsTG (n.670+1209_670+1210delinsTG) c.245_246delinsTG c.*677_*678delinsTG (n.*677_*678delinsTG) c.787+107_787+108delinsTG (n.787+107_787+108delinsTG) c.491_492delinsTG c.409+107_409+108delinsTG (n.409+107_409+108delinsTG) c.412+107_412+108delinsTG (n.412+107_412+108delinsTG) c.*830_*831delinsTG (n.*830_*831delinsTG) c.4+30545_4+30546delinsTG (n.4+30545_4+30546delinsTG) c.-43-20116_-43-20115delinsTG (n.-43-20116_-43-20115delinsTG) c.-99+30634_-99+30635delinsTG (n.-99+30634_-99+30635delinsTG) n.1030_1031delinsTG n.1071_1072delinsTG | |
17 | g.43094636_43094638delinsCAT | CA2260785135 | BRCA1 | n.957_959delinsATG c.893_895delinsATG (p.Asn298=) c.767_769delinsATG (p.Asn256=) c.890_892delinsATG (p.Asn297=) c.815_817delinsATG (p.Asn272=) c.784+106_784+108delinsATG (n.784+106_784+108delinsATG) c.646+106_646+108delinsATG (n.646+106_646+108delinsATG) c.5_7delinsATG (p.Asn2=) c.770_772delinsATG (p.Asn257=) c.752_754delinsATG (p.Asn251=) c.664+106_664+108delinsATG (n.664+106_664+108delinsATG) c.706+106_706+108delinsATG (n.706+106_706+108delinsATG) c.*901_*903delinsATG (n.*901_*903delinsATG) c.*767_*769delinsATG (n.*767_*769delinsATG) c.670+1208_670+1210delinsATG (n.670+1208_670+1210delinsATG) c.244_246delinsATG c.*676_*678delinsATG (n.*676_*678delinsATG) c.787+106_787+108delinsATG (n.787+106_787+108delinsATG) c.490_492delinsATG c.409+106_409+108delinsATG (n.409+106_409+108delinsATG) c.412+106_412+108delinsATG (n.412+106_412+108delinsATG) c.*829_*831delinsATG (n.*829_*831delinsATG) c.4+30544_4+30546delinsATG (n.4+30544_4+30546delinsATG) c.-43-20117_-43-20115delinsATG (n.-43-20117_-43-20115delinsATG) c.-99+30633_-99+30635delinsATG (n.-99+30633_-99+30635delinsATG) n.1029_1031delinsATG n.1070_1072delinsATG | |
17 | g.43094636_43094640del | CA2499224576 | BRCA1 | n.955_959del c.891_895del (p.Met297IlefsTer5) c.765_769del (p.Met255IlefsTer5) c.888_892del (p.Met296IlefsTer5) c.813_817del (p.Met271IlefsTer5) c.784+104_784+108del (n.784+104_784+108del) c.646+104_646+108del (n.646+104_646+108del) c.3_7del (p.Met1IlefsTer5) c.768_772del (p.Met256IlefsTer5) c.750_754del (p.Met250IlefsTer5) c.664+104_664+108del (n.664+104_664+108del) c.706+104_706+108del (n.706+104_706+108del) c.*899_*903del (n.*899_*903del) c.*765_*769del (n.*765_*769del) c.670+1206_670+1210del (n.670+1206_670+1210del) c.242_246del c.*674_*678del (n.*674_*678del) c.787+104_787+108del (n.787+104_787+108del) c.488_492del c.409+104_409+108del (n.409+104_409+108del) c.412+104_412+108del (n.412+104_412+108del) c.*827_*831del (n.*827_*831del) c.4+30542_4+30546del (n.4+30542_4+30546del) c.-43-20119_-43-20115del (n.-43-20119_-43-20115del) c.-99+30631_-99+30635del (n.-99+30631_-99+30635del) n.1027_1031del n.1068_1072del | dbSNP |
17 | g.43094641_43094644dup | CA003954 | BRCA1 | n.956_959dup c.892_895dup (p.Val299GlufsTer6) c.766_769dup (p.Val257GlufsTer6) c.889_892dup (p.Val298GlufsTer6) c.814_817dup (p.Val273GlufsTer6) c.784+105_784+108dup (n.784+105_784+108dup) c.646+105_646+108dup (n.646+105_646+108dup) c.4_7dup (p.Val3GlufsTer6) c.769_772dup (p.Val258GlufsTer6) c.751_754dup (p.Val252GlufsTer6) c.664+105_664+108dup (n.664+105_664+108dup) c.706+105_706+108dup (n.706+105_706+108dup) c.*900_*903dup (n.*900_*903dup) c.*766_*769dup (n.*766_*769dup) c.670+1207_670+1210dup (n.670+1207_670+1210dup) c.243_246dup c.*675_*678dup (n.*675_*678dup) c.787+105_787+108dup (n.787+105_787+108dup) c.489_492dup c.409+105_409+108dup (n.409+105_409+108dup) c.412+105_412+108dup (n.412+105_412+108dup) c.*828_*831dup (n.*828_*831dup) c.4+30543_4+30546dup (n.4+30543_4+30546dup) c.-43-20118_-43-20115dup (n.-43-20118_-43-20115dup) c.-99+30632_-99+30635dup (n.-99+30632_-99+30635dup) n.1028_1031dup n.1069_1072dup | ClinVar dbSNP |
17 | g.43094637del | CA919844525 | BRCA1 | n.958del c.894del (p.Asn298LysfsTer2) c.768del (p.Asn256LysfsTer2) c.891del (p.Asn297LysfsTer2) c.816del (p.Asn272LysfsTer2) c.784+107del (n.784+107del) c.646+107del (n.646+107del) c.6del (p.Asn2LysfsTer2) c.771del (p.Asn257LysfsTer2) c.753del (p.Asn251LysfsTer2) c.664+107del (n.664+107del) c.706+107del (n.706+107del) c.*902del (n.*902del) c.*768del (n.*768del) c.670+1209del (n.670+1209del) c.245del c.*677del (n.*677del) c.787+107del (n.787+107del) c.491del c.409+107del (n.409+107del) c.412+107del (n.412+107del) c.*830del (n.*830del) c.4+30545del (n.4+30545del) c.-43-20116del (n.-43-20116del) c.-99+30634del (n.-99+30634del) n.1030del n.1071del | dbSNP |
17 | g.43094637A= | CA2260785137 | BRCA1 | n.958T= c.894T= (p.Asn298=) c.768T= (p.Asn256=) c.891T= (p.Asn297=) c.816T= (p.Asn272=) c.784+107T= (n.784+107T=) c.646+107T= (n.646+107T=) c.6T= (p.Asn2=) c.771T= (p.Asn257=) c.753T= (p.Asn251=) c.664+107T= (n.664+107T=) c.706+107T= (n.706+107T=) c.*902T= (n.*902T=) c.*768T= (n.*768T=) c.670+1209T= (n.670+1209T=) c.245T= c.*677T= (n.*677T=) c.787+107T= (n.787+107T=) c.491T= c.409+107T= (n.409+107T=) c.412+107T= (n.412+107T=) c.*830T= (n.*830T=) c.4+30545T= (n.4+30545T=) c.-43-20116T= (n.-43-20116T=) c.-99+30634T= (n.-99+30634T=) n.1030T= n.1071T= | |
17 | g.43094637A>C | CA10600286 | BRCA1 | n.958T>G c.894T>G (p.Asn298Lys) c.768T>G (p.Asn256Lys) c.891T>G (p.Asn297Lys) c.816T>G (p.Asn272Lys) c.784+107T>G (n.784+107T>G) c.646+107T>G (n.646+107T>G) c.6T>G (p.Asn2Lys) c.771T>G (p.Asn257Lys) c.753T>G (p.Asn251Lys) c.664+107T>G (n.664+107T>G) c.706+107T>G (n.706+107T>G) c.*902T>G (n.*902T>G) c.*768T>G (n.*768T>G) c.670+1209T>G (n.670+1209T>G) c.245T>G c.*677T>G (n.*677T>G) c.787+107T>G (n.787+107T>G) c.491T>G c.409+107T>G (n.409+107T>G) c.412+107T>G (n.412+107T>G) c.*830T>G (n.*830T>G) c.4+30545T>G (n.4+30545T>G) c.-43-20116T>G (n.-43-20116T>G) c.-99+30634T>G (n.-99+30634T>G) n.1030T>G n.1071T>G | ClinVar |
17 | g.43094637A>G | CA500233305 | BRCA1 | n.958T>C c.894T>C (p.Asn298=) c.768T>C (p.Asn256=) c.891T>C (p.Asn297=) c.816T>C (p.Asn272=) c.784+107T>C (n.784+107T>C) c.646+107T>C (n.646+107T>C) c.6T>C (p.Asn2=) c.771T>C (p.Asn257=) c.753T>C (p.Asn251=) c.664+107T>C (n.664+107T>C) c.706+107T>C (n.706+107T>C) c.*902T>C (n.*902T>C) c.*768T>C (n.*768T>C) c.670+1209T>C (n.670+1209T>C) c.245T>C c.*677T>C (n.*677T>C) c.787+107T>C (n.787+107T>C) c.491T>C c.409+107T>C (n.409+107T>C) c.412+107T>C (n.412+107T>C) c.*830T>C (n.*830T>C) c.4+30545T>C (n.4+30545T>C) c.-43-20116T>C (n.-43-20116T>C) c.-99+30634T>C (n.-99+30634T>C) n.1030T>C n.1071T>C | ClinVar dbSNP gnomAD v4 |
17 | g.43094637A>T | CA10600287 | BRCA1 | n.958T>A c.894T>A (p.Asn298Lys) c.768T>A (p.Asn256Lys) c.891T>A (p.Asn297Lys) c.816T>A (p.Asn272Lys) c.784+107T>A (n.784+107T>A) c.646+107T>A (n.646+107T>A) c.6T>A (p.Asn2Lys) c.771T>A (p.Asn257Lys) c.753T>A (p.Asn251Lys) c.664+107T>A (n.664+107T>A) c.706+107T>A (n.706+107T>A) c.*902T>A (n.*902T>A) c.*768T>A (n.*768T>A) c.670+1209T>A (n.670+1209T>A) c.245T>A c.*677T>A (n.*677T>A) c.787+107T>A (n.787+107T>A) c.491T>A c.409+107T>A (n.409+107T>A) c.412+107T>A (n.412+107T>A) c.*830T>A (n.*830T>A) c.4+30545T>A (n.4+30545T>A) c.-43-20116T>A (n.-43-20116T>A) c.-99+30634T>A (n.-99+30634T>A) n.1030T>A n.1071T>A | dbSNP |
17 | g.43094637_43094638del | CA658798855 | BRCA1 | n.957_958del c.893_894del (p.Asn298SerfsTer5) c.767_768del (p.Asn256SerfsTer5) c.890_891del (p.Asn297SerfsTer5) c.815_816del (p.Asn272SerfsTer5) c.784+106_784+107del (n.784+106_784+107del) c.646+106_646+107del (n.646+106_646+107del) c.5_6del (p.Asn2SerfsTer5) c.770_771del (p.Asn257SerfsTer5) c.752_753del (p.Asn251SerfsTer5) c.664+106_664+107del (n.664+106_664+107del) c.706+106_706+107del (n.706+106_706+107del) c.*901_*902del (n.*901_*902del) c.*767_*768del (n.*767_*768del) c.670+1208_670+1209del (n.670+1208_670+1209del) c.244_245del c.*676_*677del (n.*676_*677del) c.787+106_787+107del (n.787+106_787+107del) c.490_491del c.409+106_409+107del (n.409+106_409+107del) c.412+106_412+107del (n.412+106_412+107del) c.*829_*830del (n.*829_*830del) c.4+30544_4+30545del (n.4+30544_4+30545del) c.-43-20117_-43-20116del (n.-43-20117_-43-20116del) c.-99+30633_-99+30634del (n.-99+30633_-99+30634del) n.1029_1030del n.1070_1071del | ClinVar dbSNP |
17 | g.43094638T>A | CA10600288 | BRCA1 | n.957A>T c.893A>T (p.Asn298Ile) c.767A>T (p.Asn256Ile) c.890A>T (p.Asn297Ile) c.815A>T (p.Asn272Ile) c.784+106A>T (n.784+106A>T) c.646+106A>T (n.646+106A>T) c.5A>T (p.Asn2Ile) c.770A>T (p.Asn257Ile) c.752A>T (p.Asn251Ile) c.664+106A>T (n.664+106A>T) c.706+106A>T (n.706+106A>T) c.*901A>T (n.*901A>T) c.*767A>T (n.*767A>T) c.670+1208A>T (n.670+1208A>T) c.244A>T c.*676A>T (n.*676A>T) c.787+106A>T (n.787+106A>T) c.490A>T c.409+106A>T (n.409+106A>T) c.412+106A>T (n.412+106A>T) c.*829A>T (n.*829A>T) c.4+30544A>T (n.4+30544A>T) c.-43-20117A>T (n.-43-20117A>T) c.-99+30633A>T (n.-99+30633A>T) n.1029A>T n.1070A>T | dbSNP |
17 | g.43094638T>C | CA056884 | BRCA1 | n.957A>G c.893A>G (p.Asn298Ser) c.767A>G (p.Asn256Ser) c.890A>G (p.Asn297Ser) c.815A>G (p.Asn272Ser) c.784+106A>G (n.784+106A>G) c.646+106A>G (n.646+106A>G) c.5A>G (p.Asn2Ser) c.770A>G (p.Asn257Ser) c.752A>G (p.Asn251Ser) c.664+106A>G (n.664+106A>G) c.706+106A>G (n.706+106A>G) c.*901A>G (n.*901A>G) c.*767A>G (n.*767A>G) c.670+1208A>G (n.670+1208A>G) c.244A>G c.*676A>G (n.*676A>G) c.787+106A>G (n.787+106A>G) c.490A>G c.409+106A>G (n.409+106A>G) c.412+106A>G (n.412+106A>G) c.*829A>G (n.*829A>G) c.4+30544A>G (n.4+30544A>G) c.-43-20117A>G (n.-43-20117A>G) c.-99+30633A>G (n.-99+30633A>G) n.1029A>G n.1070A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43094638T>G | CA10600289 | BRCA1 | n.957A>C c.893A>C (p.Asn298Thr) c.767A>C (p.Asn256Thr) c.890A>C (p.Asn297Thr) c.815A>C (p.Asn272Thr) c.784+106A>C (n.784+106A>C) c.646+106A>C (n.646+106A>C) c.5A>C (p.Asn2Thr) c.770A>C (p.Asn257Thr) c.752A>C (p.Asn251Thr) c.664+106A>C (n.664+106A>C) c.706+106A>C (n.706+106A>C) c.*901A>C (n.*901A>C) c.*767A>C (n.*767A>C) c.670+1208A>C (n.670+1208A>C) c.244A>C c.*676A>C (n.*676A>C) c.787+106A>C (n.787+106A>C) c.490A>C c.409+106A>C (n.409+106A>C) c.412+106A>C (n.412+106A>C) c.*829A>C (n.*829A>C) c.4+30544A>C (n.4+30544A>C) c.-43-20117A>C (n.-43-20117A>C) c.-99+30633A>C (n.-99+30633A>C) n.1029A>C n.1070A>C | |
17 | g.43094638T= | CA2260785138 | BRCA1 | n.957A= c.893A= (p.Asn298=) c.767A= (p.Asn256=) c.890A= (p.Asn297=) c.815A= (p.Asn272=) c.784+106A= (n.784+106A=) c.646+106A= (n.646+106A=) c.5A= (p.Asn2=) c.770A= (p.Asn257=) c.752A= (p.Asn251=) c.664+106A= (n.664+106A=) c.706+106A= (n.706+106A=) c.*901A= (n.*901A=) c.*767A= (n.*767A=) c.670+1208A= (n.670+1208A=) c.244A= c.*676A= (n.*676A=) c.787+106A= (n.787+106A=) c.490A= c.409+106A= (n.409+106A=) c.412+106A= (n.412+106A=) c.*829A= (n.*829A=) c.4+30544A= (n.4+30544A=) c.-43-20117A= (n.-43-20117A=) c.-99+30633A= (n.-99+30633A=) n.1029A= n.1070A= | |
17 | g.43094639T>A | CA10600290 | BRCA1 | n.956A>T c.892A>T (p.Asn298Tyr) c.766A>T (p.Asn256Tyr) c.889A>T (p.Asn297Tyr) c.814A>T (p.Asn272Tyr) c.784+105A>T (n.784+105A>T) c.646+105A>T (n.646+105A>T) c.4A>T (p.Asn2Tyr) c.769A>T (p.Asn257Tyr) c.751A>T (p.Asn251Tyr) c.664+105A>T (n.664+105A>T) c.706+105A>T (n.706+105A>T) c.*900A>T (n.*900A>T) c.*766A>T (n.*766A>T) c.670+1207A>T (n.670+1207A>T) c.243A>T c.*675A>T (n.*675A>T) c.787+105A>T (n.787+105A>T) c.489A>T c.409+105A>T (n.409+105A>T) c.412+105A>T (n.412+105A>T) c.*828A>T (n.*828A>T) c.4+30543A>T (n.4+30543A>T) c.-43-20118A>T (n.-43-20118A>T) c.-99+30632A>T (n.-99+30632A>T) n.1028A>T n.1069A>T | dbSNP |
17 | g.43094639T>C | CA10600291 | BRCA1 | n.956A>G c.892A>G (p.Asn298Asp) c.766A>G (p.Asn256Asp) c.889A>G (p.Asn297Asp) c.814A>G (p.Asn272Asp) c.784+105A>G (n.784+105A>G) c.646+105A>G (n.646+105A>G) c.4A>G (p.Asn2Asp) c.769A>G (p.Asn257Asp) c.751A>G (p.Asn251Asp) c.664+105A>G (n.664+105A>G) c.706+105A>G (n.706+105A>G) c.*900A>G (n.*900A>G) c.*766A>G (n.*766A>G) c.670+1207A>G (n.670+1207A>G) c.243A>G c.*675A>G (n.*675A>G) c.787+105A>G (n.787+105A>G) c.489A>G c.409+105A>G (n.409+105A>G) c.412+105A>G (n.412+105A>G) c.*828A>G (n.*828A>G) c.4+30543A>G (n.4+30543A>G) c.-43-20118A>G (n.-43-20118A>G) c.-99+30632A>G (n.-99+30632A>G) n.1028A>G n.1069A>G | gnomAD v4 |
17 | g.43094639T>G | CA10600292 | BRCA1 | n.956A>C c.892A>C (p.Asn298His) c.766A>C (p.Asn256His) c.889A>C (p.Asn297His) c.814A>C (p.Asn272His) c.784+105A>C (n.784+105A>C) c.646+105A>C (n.646+105A>C) c.4A>C (p.Asn2His) c.769A>C (p.Asn257His) c.751A>C (p.Asn251His) c.664+105A>C (n.664+105A>C) c.706+105A>C (n.706+105A>C) c.*900A>C (n.*900A>C) c.*766A>C (n.*766A>C) c.670+1207A>C (n.670+1207A>C) c.243A>C c.*675A>C (n.*675A>C) c.787+105A>C (n.787+105A>C) c.489A>C c.409+105A>C (n.409+105A>C) c.412+105A>C (n.412+105A>C) c.*828A>C (n.*828A>C) c.4+30543A>C (n.4+30543A>C) c.-43-20118A>C (n.-43-20118A>C) c.-99+30632A>C (n.-99+30632A>C) n.1028A>C n.1069A>C | dbSNP |
17 | g.43094639_43094640delinsAT | CA1139664803 | BRCA1 | n.955_956delinsAT c.891_892delinsAT (p.Met297_Asn298delinsIleTyr) c.765_766delinsAT (p.Met255_Asn256delinsIleTyr) c.888_889delinsAT (p.Met296_Asn297delinsIleTyr) c.813_814delinsAT (p.Met271_Asn272delinsIleTyr) c.784+104_784+105delinsAT (n.784+104_784+105delinsAT) c.646+104_646+105delinsAT (n.646+104_646+105delinsAT) c.3_4delinsAT (p.Met1_Asn2delinsIleTyr) c.768_769delinsAT (p.Met256_Asn257delinsIleTyr) c.750_751delinsAT (p.Met250_Asn251delinsIleTyr) c.664+104_664+105delinsAT (n.664+104_664+105delinsAT) c.706+104_706+105delinsAT (n.706+104_706+105delinsAT) c.*899_*900delinsAT (n.*899_*900delinsAT) c.*765_*766delinsAT (n.*765_*766delinsAT) c.670+1206_670+1207delinsAT (n.670+1206_670+1207delinsAT) c.242_243delinsAT c.*674_*675delinsAT (n.*674_*675delinsAT) c.787+104_787+105delinsAT (n.787+104_787+105delinsAT) c.488_489delinsAT c.409+104_409+105delinsAT (n.409+104_409+105delinsAT) c.412+104_412+105delinsAT (n.412+104_412+105delinsAT) c.*827_*828delinsAT (n.*827_*828delinsAT) c.4+30542_4+30543delinsAT (n.4+30542_4+30543delinsAT) c.-43-20119_-43-20118delinsAT (n.-43-20119_-43-20118delinsAT) c.-99+30631_-99+30632delinsAT (n.-99+30631_-99+30632delinsAT) n.1027_1028delinsAT n.1068_1069delinsAT | ClinVar dbSNP |
17 | g.43094639_43094640delinsTC | CA2260785139 | BRCA1 | n.955_956delinsGA c.891_892delinsGA (p.Met297=) c.765_766delinsGA (p.Met255=) c.888_889delinsGA (p.Met296=) c.813_814delinsGA (p.Met271=) c.784+104_784+105delinsGA (n.784+104_784+105delinsGA) c.646+104_646+105delinsGA (n.646+104_646+105delinsGA) c.3_4delinsGA (p.Met1=) c.768_769delinsGA (p.Met256=) c.750_751delinsGA (p.Met250=) c.664+104_664+105delinsGA (n.664+104_664+105delinsGA) c.706+104_706+105delinsGA (n.706+104_706+105delinsGA) c.*899_*900delinsGA (n.*899_*900delinsGA) c.*765_*766delinsGA (n.*765_*766delinsGA) c.670+1206_670+1207delinsGA (n.670+1206_670+1207delinsGA) c.242_243delinsGA c.*674_*675delinsGA (n.*674_*675delinsGA) c.787+104_787+105delinsGA (n.787+104_787+105delinsGA) c.488_489delinsGA c.409+104_409+105delinsGA (n.409+104_409+105delinsGA) c.412+104_412+105delinsGA (n.412+104_412+105delinsGA) c.*827_*828delinsGA (n.*827_*828delinsGA) c.4+30542_4+30543delinsGA (n.4+30542_4+30543delinsGA) c.-43-20119_-43-20118delinsGA (n.-43-20119_-43-20118delinsGA) c.-99+30631_-99+30632delinsGA (n.-99+30631_-99+30632delinsGA) n.1027_1028delinsGA n.1068_1069delinsGA | |
17 | g.43094640_43094642dup | CA2739265619 | BRCA1 | n.954_956dup c.890_892dup (p.Met297_Asn298insMet) c.764_766dup (p.Met255_Asn256insMet) c.887_889dup (p.Met296_Asn297insMet) c.812_814dup (p.Met271_Asn272insMet) c.784+103_784+105dup (n.784+103_784+105dup) c.646+103_646+105dup (n.646+103_646+105dup) c.2_4dup (p.Met1_Asn2insMet) c.767_769dup (p.Met256_Asn257insMet) c.749_751dup (p.Met250_Asn251insMet) c.664+103_664+105dup (n.664+103_664+105dup) c.706+103_706+105dup (n.706+103_706+105dup) c.*898_*900dup (n.*898_*900dup) c.*764_*766dup (n.*764_*766dup) c.670+1205_670+1207dup (n.670+1205_670+1207dup) c.241_243dup c.*673_*675dup (n.*673_*675dup) c.787+103_787+105dup (n.787+103_787+105dup) c.487_489dup c.409+103_409+105dup (n.409+103_409+105dup) c.412+103_412+105dup (n.412+103_412+105dup) c.*826_*828dup (n.*826_*828dup) c.4+30541_4+30543dup (n.4+30541_4+30543dup) c.-43-20120_-43-20118dup (n.-43-20120_-43-20118dup) c.-99+30630_-99+30632dup (n.-99+30630_-99+30632dup) n.1026_1028dup n.1067_1069dup | ClinVar |
17 | g.43094640C>A | CA10600293 | BRCA1 | n.955G>T c.891G>T (p.Met297Ile) c.765G>T (p.Met255Ile) c.888G>T (p.Met296Ile) c.813G>T (p.Met271Ile) c.784+104G>T (n.784+104G>T) c.646+104G>T (n.646+104G>T) c.3G>T (p.Met1Ile) c.768G>T (p.Met256Ile) c.750G>T (p.Met250Ile) c.664+104G>T (n.664+104G>T) c.706+104G>T (n.706+104G>T) c.*899G>T (n.*899G>T) c.*765G>T (n.*765G>T) c.670+1206G>T (n.670+1206G>T) c.242G>T c.*674G>T (n.*674G>T) c.787+104G>T (n.787+104G>T) c.488G>T c.409+104G>T (n.409+104G>T) c.412+104G>T (n.412+104G>T) c.*827G>T (n.*827G>T) c.4+30542G>T (n.4+30542G>T) c.-43-20119G>T (n.-43-20119G>T) c.-99+30631G>T (n.-99+30631G>T) n.1027G>T n.1068G>T | ClinVar dbSNP |
17 | g.43094640C= | CA2260785140 | BRCA1 | n.955G= c.891G= (p.Met297=) c.765G= (p.Met255=) c.888G= (p.Met296=) c.813G= (p.Met271=) c.784+104G= (n.784+104G=) c.646+104G= (n.646+104G=) c.3G= (p.Met1=) c.768G= (p.Met256=) c.750G= (p.Met250=) c.664+104G= (n.664+104G=) c.706+104G= (n.706+104G=) c.*899G= (n.*899G=) c.*765G= (n.*765G=) c.670+1206G= (n.670+1206G=) c.242G= c.*674G= (n.*674G=) c.787+104G= (n.787+104G=) c.488G= c.409+104G= (n.409+104G=) c.412+104G= (n.412+104G=) c.*827G= (n.*827G=) c.4+30542G= (n.4+30542G=) c.-43-20119G= (n.-43-20119G=) c.-99+30631G= (n.-99+30631G=) n.1027G= n.1068G= | |
17 | g.43094640C>G | CA10600294 | BRCA1 | n.955G>C c.891G>C (p.Met297Ile) c.765G>C (p.Met255Ile) c.888G>C (p.Met296Ile) c.813G>C (p.Met271Ile) c.784+104G>C (n.784+104G>C) c.646+104G>C (n.646+104G>C) c.3G>C (p.Met1Ile) c.768G>C (p.Met256Ile) c.750G>C (p.Met250Ile) c.664+104G>C (n.664+104G>C) c.706+104G>C (n.706+104G>C) c.*899G>C (n.*899G>C) c.*765G>C (n.*765G>C) c.670+1206G>C (n.670+1206G>C) c.242G>C c.*674G>C (n.*674G>C) c.787+104G>C (n.787+104G>C) c.488G>C c.409+104G>C (n.409+104G>C) c.412+104G>C (n.412+104G>C) c.*827G>C (n.*827G>C) c.4+30542G>C (n.4+30542G>C) c.-43-20119G>C (n.-43-20119G>C) c.-99+30631G>C (n.-99+30631G>C) n.1027G>C n.1068G>C | dbSNP |
17 | g.43094640C>T | CA003952 | BRCA1 | n.955G>A c.891G>A (p.Met297Ile) c.765G>A (p.Met255Ile) c.888G>A (p.Met296Ile) c.813G>A (p.Met271Ile) c.784+104G>A (n.784+104G>A) c.646+104G>A (n.646+104G>A) c.3G>A (p.Met1Ile) c.768G>A (p.Met256Ile) c.750G>A (p.Met250Ile) c.664+104G>A (n.664+104G>A) c.706+104G>A (n.706+104G>A) c.*899G>A (n.*899G>A) c.*765G>A (n.*765G>A) c.670+1206G>A (n.670+1206G>A) c.242G>A c.*674G>A (n.*674G>A) c.787+104G>A (n.787+104G>A) c.488G>A c.409+104G>A (n.409+104G>A) c.412+104G>A (n.412+104G>A) c.*827G>A (n.*827G>A) c.4+30542G>A (n.4+30542G>A) c.-43-20119G>A (n.-43-20119G>A) c.-99+30631G>A (n.-99+30631G>A) n.1027G>A n.1068G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43094641A= | CA2260785141 | BRCA1 | n.954T= c.890T= (p.Met297=) c.764T= (p.Met255=) c.887T= (p.Met296=) c.812T= (p.Met271=) c.784+103T= (n.784+103T=) c.646+103T= (n.646+103T=) c.2T= (p.Met1=) c.767T= (p.Met256=) c.749T= (p.Met250=) c.664+103T= (n.664+103T=) c.706+103T= (n.706+103T=) c.*898T= (n.*898T=) c.*764T= (n.*764T=) c.670+1205T= (n.670+1205T=) c.241T= c.*673T= (n.*673T=) c.787+103T= (n.787+103T=) c.487T= c.409+103T= (n.409+103T=) c.412+103T= (n.412+103T=) c.*826T= (n.*826T=) c.4+30541T= (n.4+30541T=) c.-43-20120T= (n.-43-20120T=) c.-99+30630T= (n.-99+30630T=) n.1026T= n.1067T= | |
17 | g.43094641A>C | CA10600295 | BRCA1 | n.954T>G c.890T>G (p.Met297Arg) c.764T>G (p.Met255Arg) c.887T>G (p.Met296Arg) c.812T>G (p.Met271Arg) c.784+103T>G (n.784+103T>G) c.646+103T>G (n.646+103T>G) c.2T>G (p.Met1Arg) c.767T>G (p.Met256Arg) c.749T>G (p.Met250Arg) c.664+103T>G (n.664+103T>G) c.706+103T>G (n.706+103T>G) c.*898T>G (n.*898T>G) c.*764T>G (n.*764T>G) c.670+1205T>G (n.670+1205T>G) c.241T>G c.*673T>G (n.*673T>G) c.787+103T>G (n.787+103T>G) c.487T>G c.409+103T>G (n.409+103T>G) c.412+103T>G (n.412+103T>G) c.*826T>G (n.*826T>G) c.4+30541T>G (n.4+30541T>G) c.-43-20120T>G (n.-43-20120T>G) c.-99+30630T>G (n.-99+30630T>G) n.1026T>G n.1067T>G | |
17 | g.43094641A>G | CA10600296 | BRCA1 | n.954T>C c.890T>C (p.Met297Thr) c.764T>C (p.Met255Thr) c.887T>C (p.Met296Thr) c.812T>C (p.Met271Thr) c.784+103T>C (n.784+103T>C) c.646+103T>C (n.646+103T>C) c.2T>C (p.Met1Thr) c.767T>C (p.Met256Thr) c.749T>C (p.Met250Thr) c.664+103T>C (n.664+103T>C) c.706+103T>C (n.706+103T>C) c.*898T>C (n.*898T>C) c.*764T>C (n.*764T>C) c.670+1205T>C (n.670+1205T>C) c.241T>C c.*673T>C (n.*673T>C) c.787+103T>C (n.787+103T>C) c.487T>C c.409+103T>C (n.409+103T>C) c.412+103T>C (n.412+103T>C) c.*826T>C (n.*826T>C) c.4+30541T>C (n.4+30541T>C) c.-43-20120T>C (n.-43-20120T>C) c.-99+30630T>C (n.-99+30630T>C) n.1026T>C n.1067T>C | |
17 | g.43094641A>T | CA003951 | BRCA1 | n.954T>A c.890T>A (p.Met297Lys) c.764T>A (p.Met255Lys) c.887T>A (p.Met296Lys) c.812T>A (p.Met271Lys) c.784+103T>A (n.784+103T>A) c.646+103T>A (n.646+103T>A) c.2T>A (p.Met1Lys) c.767T>A (p.Met256Lys) c.749T>A (p.Met250Lys) c.664+103T>A (n.664+103T>A) c.706+103T>A (n.706+103T>A) c.*898T>A (n.*898T>A) c.*764T>A (n.*764T>A) c.670+1205T>A (n.670+1205T>A) c.241T>A c.*673T>A (n.*673T>A) c.787+103T>A (n.787+103T>A) c.487T>A c.409+103T>A (n.409+103T>A) c.412+103T>A (n.412+103T>A) c.*826T>A (n.*826T>A) c.4+30541T>A (n.4+30541T>A) c.-43-20120T>A (n.-43-20120T>A) c.-99+30630T>A (n.-99+30630T>A) n.1026T>A n.1067T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43094642T>A | CA10600297 | BRCA1 | n.953A>T c.889A>T (p.Met297Leu) c.763A>T (p.Met255Leu) c.886A>T (p.Met296Leu) c.811A>T (p.Met271Leu) c.784+102A>T (n.784+102A>T) c.646+102A>T (n.646+102A>T) c.1A>T (p.Met1Leu) c.766A>T (p.Met256Leu) c.748A>T (p.Met250Leu) c.664+102A>T (n.664+102A>T) c.706+102A>T (n.706+102A>T) c.*897A>T (n.*897A>T) c.*763A>T (n.*763A>T) c.670+1204A>T (n.670+1204A>T) c.240A>T c.*672A>T (n.*672A>T) c.787+102A>T (n.787+102A>T) c.486A>T c.409+102A>T (n.409+102A>T) c.412+102A>T (n.412+102A>T) c.*825A>T (n.*825A>T) c.4+30540A>T (n.4+30540A>T) c.-43-20121A>T (n.-43-20121A>T) c.-99+30629A>T (n.-99+30629A>T) n.1025A>T n.1066A>T | dbSNP |
17 | g.43094642T>C | CA003950 | BRCA1 | n.953A>G c.889A>G (p.Met297Val) c.763A>G (p.Met255Val) c.886A>G (p.Met296Val) c.811A>G (p.Met271Val) c.784+102A>G (n.784+102A>G) c.646+102A>G (n.646+102A>G) c.1A>G (p.Met1Val) c.766A>G (p.Met256Val) c.748A>G (p.Met250Val) c.664+102A>G (n.664+102A>G) c.706+102A>G (n.706+102A>G) c.*897A>G (n.*897A>G) c.*763A>G (n.*763A>G) c.670+1204A>G (n.670+1204A>G) c.240A>G c.*672A>G (n.*672A>G) c.787+102A>G (n.787+102A>G) c.486A>G c.409+102A>G (n.409+102A>G) c.412+102A>G (n.412+102A>G) c.*825A>G (n.*825A>G) c.4+30540A>G (n.4+30540A>G) c.-43-20121A>G (n.-43-20121A>G) c.-99+30629A>G (n.-99+30629A>G) n.1025A>G n.1066A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
17 | g.43094642T>G | CA003948 | BRCA1 | n.953A>C c.889A>C (p.Met297Leu) c.763A>C (p.Met255Leu) c.886A>C (p.Met296Leu) c.811A>C (p.Met271Leu) c.784+102A>C (n.784+102A>C) c.646+102A>C (n.646+102A>C) c.1A>C (p.Met1Leu) c.766A>C (p.Met256Leu) c.748A>C (p.Met250Leu) c.664+102A>C (n.664+102A>C) c.706+102A>C (n.706+102A>C) c.*897A>C (n.*897A>C) c.*763A>C (n.*763A>C) c.670+1204A>C (n.670+1204A>C) c.240A>C c.*672A>C (n.*672A>C) c.787+102A>C (n.787+102A>C) c.486A>C c.409+102A>C (n.409+102A>C) c.412+102A>C (n.412+102A>C) c.*825A>C (n.*825A>C) c.4+30540A>C (n.4+30540A>C) c.-43-20121A>C (n.-43-20121A>C) c.-99+30629A>C (n.-99+30629A>C) n.1025A>C n.1066A>C | ClinVar dbSNP gnomAD v4 |
17 | g.43094642T= | CA2260785142 | BRCA1 | n.953A= c.889A= (p.Met297=) c.763A= (p.Met255=) c.886A= (p.Met296=) c.811A= (p.Met271=) c.784+102A= (n.784+102A=) c.646+102A= (n.646+102A=) c.1A= (p.Met1=) c.766A= (p.Met256=) c.748A= (p.Met250=) c.664+102A= (n.664+102A=) c.706+102A= (n.706+102A=) c.*897A= (n.*897A=) c.*763A= (n.*763A=) c.670+1204A= (n.670+1204A=) c.240A= c.*672A= (n.*672A=) c.787+102A= (n.787+102A=) c.486A= c.409+102A= (n.409+102A=) c.412+102A= (n.412+102A=) c.*825A= (n.*825A=) c.4+30540A= (n.4+30540A=) c.-43-20121A= (n.-43-20121A=) c.-99+30629A= (n.-99+30629A=) n.1025A= n.1066A= | |
17 | g.43094642_43094646delinsTTCTG | CA2260785143 | BRCA1 | n.949_953delinsCAGAA c.885_889delinsCAGAA (p.Asp295=) c.759_763delinsCAGAA (p.Asp253=) c.882_886delinsCAGAA (p.Asp294=) c.807_811delinsCAGAA (p.Asp269=) c.784+98_784+102delinsCAGAA (n.784+98_784+102delinsCAGAA) c.646+98_646+102delinsCAGAA (n.646+98_646+102delinsCAGAA) c.-4_1delinsCAGAA c.762_766delinsCAGAA (p.Asp254=) c.744_748delinsCAGAA (p.Asp248=) c.664+98_664+102delinsCAGAA (n.664+98_664+102delinsCAGAA) c.706+98_706+102delinsCAGAA (n.706+98_706+102delinsCAGAA) c.*893_*897delinsCAGAA (n.*893_*897delinsCAGAA) c.*759_*763delinsCAGAA (n.*759_*763delinsCAGAA) c.670+1200_670+1204delinsCAGAA (n.670+1200_670+1204delinsCAGAA) c.236_240delinsCAGAA c.*668_*672delinsCAGAA (n.*668_*672delinsCAGAA) c.787+98_787+102delinsCAGAA (n.787+98_787+102delinsCAGAA) c.482_486delinsCAGAA c.409+98_409+102delinsCAGAA (n.409+98_409+102delinsCAGAA) c.412+98_412+102delinsCAGAA (n.412+98_412+102delinsCAGAA) c.*821_*825delinsCAGAA (n.*821_*825delinsCAGAA) c.4+30536_4+30540delinsCAGAA (n.4+30536_4+30540delinsCAGAA) c.-43-20125_-43-20121delinsCAGAA (n.-43-20125_-43-20121delinsCAGAA) c.-99+30625_-99+30629delinsCAGAA (n.-99+30625_-99+30629delinsCAGAA) n.1021_1025delinsCAGAA n.1062_1066delinsCAGAA | |
17 | g.43094643T>A | CA10600298 | BRCA1 | n.952A>T c.888A>T (p.Arg296Ser) c.762A>T (p.Arg254Ser) c.885A>T (p.Arg295Ser) c.810A>T (p.Arg270Ser) c.784+101A>T (n.784+101A>T) c.646+101A>T (n.646+101A>T) c.-1A>T (n.-1A>T) c.765A>T (p.Arg255Ser) c.747A>T (p.Arg249Ser) c.664+101A>T (n.664+101A>T) c.706+101A>T (n.706+101A>T) c.*896A>T (n.*896A>T) c.*762A>T (n.*762A>T) c.670+1203A>T (n.670+1203A>T) c.239A>T c.*671A>T (n.*671A>T) c.787+101A>T (n.787+101A>T) c.485A>T c.409+101A>T (n.409+101A>T) c.412+101A>T (n.412+101A>T) c.*824A>T (n.*824A>T) c.4+30539A>T (n.4+30539A>T) c.-43-20122A>T (n.-43-20122A>T) c.-99+30628A>T (n.-99+30628A>T) n.1024A>T n.1065A>T | dbSNP |