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.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.43094735_43094737delinsCAG | CA2260785231 | BRCA1 | n.858_860delinsCTG c.794_796delinsCTG (p.Ser265=) c.668_670delinsCTG (p.Ser223=) c.791_793delinsCTG (p.Ser264=) c.716_718delinsCTG (p.Ser239=) c.784+7_784+9delinsCTG (n.784+7_784+9delinsCTG) c.646+7_646+9delinsCTG (n.646+7_646+9delinsCTG) c.-95_-93delinsCTG (n.-95_-93delinsCTG) c.671_673delinsCTG (p.Ser224=) c.653_655delinsCTG (p.Ser218=) c.664+7_664+9delinsCTG (n.664+7_664+9delinsCTG) c.706+7_706+9delinsCTG (n.706+7_706+9delinsCTG) c.*802_*804delinsCTG (n.*802_*804delinsCTG) c.*668_*670delinsCTG (n.*668_*670delinsCTG) c.670+1109_670+1111delinsCTG (n.670+1109_670+1111delinsCTG) c.145_147delinsCTG c.*577_*579delinsCTG (n.*577_*579delinsCTG) c.787+7_787+9delinsCTG (n.787+7_787+9delinsCTG) c.391_393delinsCTG c.409+7_409+9delinsCTG (n.409+7_409+9delinsCTG) c.412+7_412+9delinsCTG (n.412+7_412+9delinsCTG) c.*730_*732delinsCTG (n.*730_*732delinsCTG) c.4+30445_4+30447delinsCTG (n.4+30445_4+30447delinsCTG) c.-43-20216_-43-20214delinsCTG (n.-43-20216_-43-20214delinsCTG) c.-99+30534_-99+30536delinsCTG (n.-99+30534_-99+30536delinsCTG) n.930_932delinsCTG n.971_973delinsCTG | |
17 | g.43094737_43094738del | CA003879 | BRCA1 | n.858_859del c.794_795del (p.Ser265CysfsTer21) c.668_669del (p.Ser223CysfsTer21) c.791_792del (p.Ser264CysfsTer21) c.716_717del (p.Ser239CysfsTer21) c.784+7_784+8del (n.784+7_784+8del) c.646+7_646+8del (n.646+7_646+8del) c.-95_-94del (n.-95_-94del) c.671_672del (p.Ser224CysfsTer21) c.653_654del (p.Ser218CysfsTer21) c.664+7_664+8del (n.664+7_664+8del) c.706+7_706+8del (n.706+7_706+8del) c.*802_*803del (n.*802_*803del) c.*668_*669del (n.*668_*669del) c.670+1109_670+1110del (n.670+1109_670+1110del) c.145_146del c.*577_*578del (n.*577_*578del) c.787+7_787+8del (n.787+7_787+8del) c.391_392del c.409+7_409+8del (n.409+7_409+8del) c.412+7_412+8del (n.412+7_412+8del) c.*730_*731del (n.*730_*731del) c.4+30445_4+30446del (n.4+30445_4+30446del) c.-43-20216_-43-20215del (n.-43-20216_-43-20215del) c.-99+30534_-99+30535del (n.-99+30534_-99+30535del) n.930_931del n.971_972del | ClinVar dbSNP |
17 | g.43094736_43094740delinsAGAAC | CA2260785233 | BRCA1 | n.855_859delinsGTTCT c.791_795delinsGTTCT (p.Ser264=) c.665_669delinsGTTCT (p.Ser222=) c.788_792delinsGTTCT (p.Ser263=) c.713_717delinsGTTCT (p.Ser238=) c.784+4_784+8delinsGTTCT (n.784+4_784+8delinsGTTCT) c.646+4_646+8delinsGTTCT (n.646+4_646+8delinsGTTCT) c.-98_-94delinsGTTCT (n.-98_-94delinsGTTCT) c.668_672delinsGTTCT (p.Ser223=) c.650_654delinsGTTCT (p.Ser217=) c.664+4_664+8delinsGTTCT (n.664+4_664+8delinsGTTCT) c.706+4_706+8delinsGTTCT (n.706+4_706+8delinsGTTCT) c.*799_*803delinsGTTCT (n.*799_*803delinsGTTCT) c.*665_*669delinsGTTCT (n.*665_*669delinsGTTCT) c.670+1106_670+1110delinsGTTCT (n.670+1106_670+1110delinsGTTCT) c.142_146delinsGTTCT c.*574_*578delinsGTTCT (n.*574_*578delinsGTTCT) c.787+4_787+8delinsGTTCT (n.787+4_787+8delinsGTTCT) c.388_392delinsGTTCT c.409+4_409+8delinsGTTCT (n.409+4_409+8delinsGTTCT) c.412+4_412+8delinsGTTCT (n.412+4_412+8delinsGTTCT) c.*727_*731delinsGTTCT (n.*727_*731delinsGTTCT) c.4+30442_4+30446delinsGTTCT (n.4+30442_4+30446delinsGTTCT) c.-43-20219_-43-20215delinsGTTCT (n.-43-20219_-43-20215delinsGTTCT) c.-99+30531_-99+30535delinsGTTCT (n.-99+30531_-99+30535delinsGTTCT) n.927_931delinsGTTCT n.968_972delinsGTTCT | |
17 | g.43094737G>A | CA10600491 | BRCA1 | n.858C>T c.794C>T (p.Ser265Phe) c.668C>T (p.Ser223Phe) c.791C>T (p.Ser264Phe) c.716C>T (p.Ser239Phe) c.784+7C>T (n.784+7C>T) c.646+7C>T (n.646+7C>T) c.-95C>T (n.-95C>T) c.671C>T (p.Ser224Phe) c.653C>T (p.Ser218Phe) c.664+7C>T (n.664+7C>T) c.706+7C>T (n.706+7C>T) c.*802C>T (n.*802C>T) c.*668C>T (n.*668C>T) c.670+1109C>T (n.670+1109C>T) c.145C>T c.*577C>T (n.*577C>T) c.787+7C>T (n.787+7C>T) c.391C>T c.409+7C>T (n.409+7C>T) c.412+7C>T (n.412+7C>T) c.*730C>T (n.*730C>T) c.4+30445C>T (n.4+30445C>T) c.-43-20216C>T (n.-43-20216C>T) c.-99+30534C>T (n.-99+30534C>T) n.930C>T n.971C>T | dbSNP |
17 | g.43094737G>C | CA10600492 | BRCA1 | n.858C>G c.794C>G (p.Ser265Cys) c.668C>G (p.Ser223Cys) c.791C>G (p.Ser264Cys) c.716C>G (p.Ser239Cys) c.784+7C>G (n.784+7C>G) c.646+7C>G (n.646+7C>G) c.-95C>G (n.-95C>G) c.671C>G (p.Ser224Cys) c.653C>G (p.Ser218Cys) c.664+7C>G (n.664+7C>G) c.706+7C>G (n.706+7C>G) c.*802C>G (n.*802C>G) c.*668C>G (n.*668C>G) c.670+1109C>G (n.670+1109C>G) c.145C>G c.*577C>G (n.*577C>G) c.787+7C>G (n.787+7C>G) c.391C>G c.409+7C>G (n.409+7C>G) c.412+7C>G (n.412+7C>G) c.*730C>G (n.*730C>G) c.4+30445C>G (n.4+30445C>G) c.-43-20216C>G (n.-43-20216C>G) c.-99+30534C>G (n.-99+30534C>G) n.930C>G n.971C>G | dbSNP |
17 | g.43094737G>T | CA10600493 | BRCA1 | n.858C>A c.794C>A (p.Ser265Tyr) c.668C>A (p.Ser223Tyr) c.791C>A (p.Ser264Tyr) c.716C>A (p.Ser239Tyr) c.784+7C>A (n.784+7C>A) c.646+7C>A (n.646+7C>A) c.-95C>A (n.-95C>A) c.671C>A (p.Ser224Tyr) c.653C>A (p.Ser218Tyr) c.664+7C>A (n.664+7C>A) c.706+7C>A (n.706+7C>A) c.*802C>A (n.*802C>A) c.*668C>A (n.*668C>A) c.670+1109C>A (n.670+1109C>A) c.145C>A c.*577C>A (n.*577C>A) c.787+7C>A (n.787+7C>A) c.391C>A c.409+7C>A (n.409+7C>A) c.412+7C>A (n.412+7C>A) c.*730C>A (n.*730C>A) c.4+30445C>A (n.4+30445C>A) c.-43-20216C>A (n.-43-20216C>A) c.-99+30534C>A (n.-99+30534C>A) n.930C>A n.971C>A | gnomAD v4 |
17 | g.43094737_43094740del | CA354128 | BRCA1 | n.855_858del c.791_794del (p.Ser264MetfsTer?) c.665_668del (p.Ser222MetfsTer?) c.788_791del (p.Ser263MetfsTer?) c.713_716del (p.Ser238MetfsTer?) c.784+4_784+7del (n.784+4_784+7del) c.646+4_646+7del (n.646+4_646+7del) c.-98_-95del (n.-98_-95del) c.668_671del (p.Ser223MetfsTer?) c.650_653del (p.Ser217MetfsTer?) c.664+4_664+7del (n.664+4_664+7del) c.706+4_706+7del (n.706+4_706+7del) c.*799_*802del (n.*799_*802del) c.*665_*668del (n.*665_*668del) c.670+1106_670+1109del (n.670+1106_670+1109del) c.142_145del c.*574_*577del (n.*574_*577del) c.787+4_787+7del (n.787+4_787+7del) c.388_391del c.409+4_409+7del (n.409+4_409+7del) c.412+4_412+7del (n.412+4_412+7del) c.*727_*730del (n.*727_*730del) c.4+30442_4+30445del (n.4+30442_4+30445del) c.-43-20219_-43-20216del (n.-43-20219_-43-20216del) c.-99+30531_-99+30534del (n.-99+30531_-99+30534del) n.927_930del n.968_971del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43094738A= | CA2260785234 | BRCA1 | n.857T= c.793T= (p.Ser265=) c.667T= (p.Ser223=) c.790T= (p.Ser264=) c.715T= (p.Ser239=) c.784+6T= (n.784+6T=) c.646+6T= (n.646+6T=) c.-96T= (n.-96T=) c.670T= (p.Ser224=) c.652T= (p.Ser218=) c.664+6T= (n.664+6T=) c.706+6T= (n.706+6T=) c.*801T= (n.*801T=) c.*667T= (n.*667T=) c.670+1108T= (n.670+1108T=) c.144T= c.*576T= (n.*576T=) c.787+6T= (n.787+6T=) c.390T= c.409+6T= (n.409+6T=) c.412+6T= (n.412+6T=) c.*729T= (n.*729T=) c.4+30444T= (n.4+30444T=) c.-43-20217T= (n.-43-20217T=) c.-99+30533T= (n.-99+30533T=) n.929T= n.970T= | |
17 | g.43094738A>C | CA10600494 | BRCA1 | n.857T>G c.793T>G (p.Ser265Ala) c.667T>G (p.Ser223Ala) c.790T>G (p.Ser264Ala) c.715T>G (p.Ser239Ala) c.784+6T>G (n.784+6T>G) c.646+6T>G (n.646+6T>G) c.-96T>G (n.-96T>G) c.670T>G (p.Ser224Ala) c.652T>G (p.Ser218Ala) c.664+6T>G (n.664+6T>G) c.706+6T>G (n.706+6T>G) c.*801T>G (n.*801T>G) c.*667T>G (n.*667T>G) c.670+1108T>G (n.670+1108T>G) c.144T>G c.*576T>G (n.*576T>G) c.787+6T>G (n.787+6T>G) c.390T>G c.409+6T>G (n.409+6T>G) c.412+6T>G (n.412+6T>G) c.*729T>G (n.*729T>G) c.4+30444T>G (n.4+30444T>G) c.-43-20217T>G (n.-43-20217T>G) c.-99+30533T>G (n.-99+30533T>G) n.929T>G n.970T>G | dbSNP |
17 | g.43094738A>G | CA10600495 | BRCA1 | n.857T>C c.793T>C (p.Ser265Pro) c.667T>C (p.Ser223Pro) c.790T>C (p.Ser264Pro) c.715T>C (p.Ser239Pro) c.784+6T>C (n.784+6T>C) c.646+6T>C (n.646+6T>C) c.-96T>C (n.-96T>C) c.670T>C (p.Ser224Pro) c.652T>C (p.Ser218Pro) c.664+6T>C (n.664+6T>C) c.706+6T>C (n.706+6T>C) c.*801T>C (n.*801T>C) c.*667T>C (n.*667T>C) c.670+1108T>C (n.670+1108T>C) c.144T>C c.*576T>C (n.*576T>C) c.787+6T>C (n.787+6T>C) c.390T>C c.409+6T>C (n.409+6T>C) c.412+6T>C (n.412+6T>C) c.*729T>C (n.*729T>C) c.4+30444T>C (n.4+30444T>C) c.-43-20217T>C (n.-43-20217T>C) c.-99+30533T>C (n.-99+30533T>C) n.929T>C n.970T>C | dbSNP |
17 | g.43094738A>T | CA10600496 | BRCA1 | n.857T>A c.793T>A (p.Ser265Thr) c.667T>A (p.Ser223Thr) c.790T>A (p.Ser264Thr) c.715T>A (p.Ser239Thr) c.784+6T>A (n.784+6T>A) c.646+6T>A (n.646+6T>A) c.-96T>A (n.-96T>A) c.670T>A (p.Ser224Thr) c.652T>A (p.Ser218Thr) c.664+6T>A (n.664+6T>A) c.706+6T>A (n.706+6T>A) c.*801T>A (n.*801T>A) c.*667T>A (n.*667T>A) c.670+1108T>A (n.670+1108T>A) c.144T>A c.*576T>A (n.*576T>A) c.787+6T>A (n.787+6T>A) c.390T>A c.409+6T>A (n.409+6T>A) c.412+6T>A (n.412+6T>A) c.*729T>A (n.*729T>A) c.4+30444T>A (n.4+30444T>A) c.-43-20217T>A (n.-43-20217T>A) c.-99+30533T>A (n.-99+30533T>A) n.929T>A n.970T>A | dbSNP gnomAD v4 |
17 | g.43094739A= | CA2260785235 | BRCA1 | n.856T= c.792T= (p.Ser264=) c.666T= (p.Ser222=) c.789T= (p.Ser263=) c.714T= (p.Ser238=) c.784+5T= (n.784+5T=) c.646+5T= (n.646+5T=) c.-97T= (n.-97T=) c.669T= (p.Ser223=) c.651T= (p.Ser217=) c.664+5T= (n.664+5T=) c.706+5T= (n.706+5T=) c.*800T= (n.*800T=) c.*666T= (n.*666T=) c.670+1107T= (n.670+1107T=) c.143T= c.*575T= (n.*575T=) c.787+5T= (n.787+5T=) c.389T= c.409+5T= (n.409+5T=) c.412+5T= (n.412+5T=) c.*728T= (n.*728T=) c.4+30443T= (n.4+30443T=) c.-43-20218T= (n.-43-20218T=) c.-99+30532T= (n.-99+30532T=) n.928T= n.969T= | |
17 | g.43094739A>C | CA003878 | BRCA1 | n.856T>G c.792T>G (p.Ser264Arg) c.666T>G (p.Ser222Arg) c.789T>G (p.Ser263Arg) c.714T>G (p.Ser238Arg) c.784+5T>G (n.784+5T>G) c.646+5T>G (n.646+5T>G) c.-97T>G (n.-97T>G) c.669T>G (p.Ser223Arg) c.651T>G (p.Ser217Arg) c.664+5T>G (n.664+5T>G) c.706+5T>G (n.706+5T>G) c.*800T>G (n.*800T>G) c.*666T>G (n.*666T>G) c.670+1107T>G (n.670+1107T>G) c.143T>G c.*575T>G (n.*575T>G) c.787+5T>G (n.787+5T>G) c.389T>G c.409+5T>G (n.409+5T>G) c.412+5T>G (n.412+5T>G) c.*728T>G (n.*728T>G) c.4+30443T>G (n.4+30443T>G) c.-43-20218T>G (n.-43-20218T>G) c.-99+30532T>G (n.-99+30532T>G) n.928T>G n.969T>G | ClinVar dbSNP |
17 | g.43094739A>G | CA500233440 | BRCA1 | n.856T>C c.792T>C (p.Ser264=) c.666T>C (p.Ser222=) c.789T>C (p.Ser263=) c.714T>C (p.Ser238=) c.784+5T>C (n.784+5T>C) c.646+5T>C (n.646+5T>C) c.-97T>C (n.-97T>C) c.669T>C (p.Ser223=) c.651T>C (p.Ser217=) c.664+5T>C (n.664+5T>C) c.706+5T>C (n.706+5T>C) c.*800T>C (n.*800T>C) c.*666T>C (n.*666T>C) c.670+1107T>C (n.670+1107T>C) c.143T>C c.*575T>C (n.*575T>C) c.787+5T>C (n.787+5T>C) c.389T>C c.409+5T>C (n.409+5T>C) c.412+5T>C (n.412+5T>C) c.*728T>C (n.*728T>C) c.4+30443T>C (n.4+30443T>C) c.-43-20218T>C (n.-43-20218T>C) c.-99+30532T>C (n.-99+30532T>C) n.928T>C n.969T>C | dbSNP |
17 | g.43094739A>T | CA10600497 | BRCA1 | n.856T>A c.792T>A (p.Ser264Arg) c.666T>A (p.Ser222Arg) c.789T>A (p.Ser263Arg) c.714T>A (p.Ser238Arg) c.784+5T>A (n.784+5T>A) c.646+5T>A (n.646+5T>A) c.-97T>A (n.-97T>A) c.669T>A (p.Ser223Arg) c.651T>A (p.Ser217Arg) c.664+5T>A (n.664+5T>A) c.706+5T>A (n.706+5T>A) c.*800T>A (n.*800T>A) c.*666T>A (n.*666T>A) c.670+1107T>A (n.670+1107T>A) c.143T>A c.*575T>A (n.*575T>A) c.787+5T>A (n.787+5T>A) c.389T>A c.409+5T>A (n.409+5T>A) c.412+5T>A (n.412+5T>A) c.*728T>A (n.*728T>A) c.4+30443T>A (n.4+30443T>A) c.-43-20218T>A (n.-43-20218T>A) c.-99+30532T>A (n.-99+30532T>A) n.928T>A n.969T>A | dbSNP |
17 | g.43094740del | CA2573154063 | BRCA1 | n.855del c.791del (p.Ser264IlefsTer?) c.665del (p.Ser222IlefsTer?) c.788del (p.Ser263IlefsTer?) c.713del (p.Ser238IlefsTer?) c.784+4del (n.784+4del) c.646+4del (n.646+4del) c.-98del (n.-98del) c.668del (p.Ser223IlefsTer?) c.650del (p.Ser217IlefsTer?) c.664+4del (n.664+4del) c.706+4del (n.706+4del) c.*799del (n.*799del) c.*665del (n.*665del) c.670+1106del (n.670+1106del) c.142del c.*574del (n.*574del) c.787+4del (n.787+4del) c.388del c.409+4del (n.409+4del) c.412+4del (n.412+4del) c.*727del (n.*727del) c.4+30442del (n.4+30442del) c.-43-20219del (n.-43-20219del) c.-99+30531del (n.-99+30531del) n.927del n.968del | ClinVar dbSNP |
17 | g.43094740C>A | CA10600498 | BRCA1 | n.855G>T c.791G>T (p.Ser264Ile) c.665G>T (p.Ser222Ile) c.788G>T (p.Ser263Ile) c.713G>T (p.Ser238Ile) c.784+4G>T (n.784+4G>T) c.646+4G>T (n.646+4G>T) c.-98G>T (n.-98G>T) c.668G>T (p.Ser223Ile) c.650G>T (p.Ser217Ile) c.664+4G>T (n.664+4G>T) c.706+4G>T (n.706+4G>T) c.*799G>T (n.*799G>T) c.*665G>T (n.*665G>T) c.670+1106G>T (n.670+1106G>T) c.142G>T c.*574G>T (n.*574G>T) c.787+4G>T (n.787+4G>T) c.388G>T c.409+4G>T (n.409+4G>T) c.412+4G>T (n.412+4G>T) c.*727G>T (n.*727G>T) c.4+30442G>T (n.4+30442G>T) c.-43-20219G>T (n.-43-20219G>T) c.-99+30531G>T (n.-99+30531G>T) n.927G>T n.968G>T | dbSNP |
17 | g.43094740C= | CA2260785236 | BRCA1 | n.855G= c.791G= (p.Ser264=) c.665G= (p.Ser222=) c.788G= (p.Ser263=) c.713G= (p.Ser238=) c.784+4G= (n.784+4G=) c.646+4G= (n.646+4G=) c.-98G= (n.-98G=) c.668G= (p.Ser223=) c.650G= (p.Ser217=) c.664+4G= (n.664+4G=) c.706+4G= (n.706+4G=) c.*799G= (n.*799G=) c.*665G= (n.*665G=) c.670+1106G= (n.670+1106G=) c.142G= c.*574G= (n.*574G=) c.787+4G= (n.787+4G=) c.388G= c.409+4G= (n.409+4G=) c.412+4G= (n.412+4G=) c.*727G= (n.*727G=) c.4+30442G= (n.4+30442G=) c.-43-20219G= (n.-43-20219G=) c.-99+30531G= (n.-99+30531G=) n.927G= n.968G= | |
17 | g.43094740C>G | CA10600499 | BRCA1 | n.855G>C c.791G>C (p.Ser264Thr) c.665G>C (p.Ser222Thr) c.788G>C (p.Ser263Thr) c.713G>C (p.Ser238Thr) c.784+4G>C (n.784+4G>C) c.646+4G>C (n.646+4G>C) c.-98G>C (n.-98G>C) c.668G>C (p.Ser223Thr) c.650G>C (p.Ser217Thr) c.664+4G>C (n.664+4G>C) c.706+4G>C (n.706+4G>C) c.*799G>C (n.*799G>C) c.*665G>C (n.*665G>C) c.670+1106G>C (n.670+1106G>C) c.142G>C c.*574G>C (n.*574G>C) c.787+4G>C (n.787+4G>C) c.388G>C c.409+4G>C (n.409+4G>C) c.412+4G>C (n.412+4G>C) c.*727G>C (n.*727G>C) c.4+30442G>C (n.4+30442G>C) c.-43-20219G>C (n.-43-20219G>C) c.-99+30531G>C (n.-99+30531G>C) n.927G>C n.968G>C | dbSNP |
17 | g.43094740C>T | CA003877 | BRCA1 | n.855G>A c.791G>A (p.Ser264Asn) c.665G>A (p.Ser222Asn) c.788G>A (p.Ser263Asn) c.713G>A (p.Ser238Asn) c.784+4G>A (n.784+4G>A) c.646+4G>A (n.646+4G>A) c.-98G>A (n.-98G>A) c.668G>A (p.Ser223Asn) c.650G>A (p.Ser217Asn) c.664+4G>A (n.664+4G>A) c.706+4G>A (n.706+4G>A) c.*799G>A (n.*799G>A) c.*665G>A (n.*665G>A) c.670+1106G>A (n.670+1106G>A) c.142G>A c.*574G>A (n.*574G>A) c.787+4G>A (n.787+4G>A) c.388G>A c.409+4G>A (n.409+4G>A) c.412+4G>A (n.412+4G>A) c.*727G>A (n.*727G>A) c.4+30442G>A (n.4+30442G>A) c.-43-20219G>A (n.-43-20219G>A) c.-99+30531G>A (n.-99+30531G>A) n.927G>A n.968G>A | ClinVar dbSNP |
17 | g.43094741T>A | CA003875 | BRCA1 | n.854A>T c.790A>T (p.Ser264Cys) c.664A>T (p.Ser222Cys) c.787A>T (p.Ser263Cys) c.712A>T (p.Ser238Cys) c.784+3A>T (n.784+3A>T) c.646+3A>T (n.646+3A>T) c.-99A>T (n.-99A>T) c.667A>T (p.Ser223Cys) c.649A>T (p.Ser217Cys) c.664+3A>T (n.664+3A>T) c.706+3A>T (n.706+3A>T) c.*798A>T (n.*798A>T) c.*664A>T (n.*664A>T) c.670+1105A>T (n.670+1105A>T) c.141A>T c.*573A>T (n.*573A>T) c.787+3A>T (n.787+3A>T) c.387A>T c.409+3A>T (n.409+3A>T) c.412+3A>T (n.412+3A>T) c.*726A>T (n.*726A>T) c.4+30441A>T (n.4+30441A>T) c.-43-20220A>T (n.-43-20220A>T) c.-99+30530A>T (n.-99+30530A>T) n.926A>T n.967A>T | ClinVar dbSNP |
17 | g.43094741T>C | CA10600500 | BRCA1 | n.854A>G c.790A>G (p.Ser264Gly) c.664A>G (p.Ser222Gly) c.787A>G (p.Ser263Gly) c.712A>G (p.Ser238Gly) c.784+3A>G (n.784+3A>G) c.646+3A>G (n.646+3A>G) c.-99A>G (n.-99A>G) c.667A>G (p.Ser223Gly) c.649A>G (p.Ser217Gly) c.664+3A>G (n.664+3A>G) c.706+3A>G (n.706+3A>G) c.*798A>G (n.*798A>G) c.*664A>G (n.*664A>G) c.670+1105A>G (n.670+1105A>G) c.141A>G c.*573A>G (n.*573A>G) c.787+3A>G (n.787+3A>G) c.387A>G c.409+3A>G (n.409+3A>G) c.412+3A>G (n.412+3A>G) c.*726A>G (n.*726A>G) c.4+30441A>G (n.4+30441A>G) c.-43-20220A>G (n.-43-20220A>G) c.-99+30530A>G (n.-99+30530A>G) n.926A>G n.967A>G | ClinVar dbSNP |
17 | g.43094741T>G | CA10600501 | BRCA1 | n.854A>C c.790A>C (p.Ser264Arg) c.664A>C (p.Ser222Arg) c.787A>C (p.Ser263Arg) c.712A>C (p.Ser238Arg) c.784+3A>C (n.784+3A>C) c.646+3A>C (n.646+3A>C) c.-99A>C (n.-99A>C) c.667A>C (p.Ser223Arg) c.649A>C (p.Ser217Arg) c.664+3A>C (n.664+3A>C) c.706+3A>C (n.706+3A>C) c.*798A>C (n.*798A>C) c.*664A>C (n.*664A>C) c.670+1105A>C (n.670+1105A>C) c.141A>C c.*573A>C (n.*573A>C) c.787+3A>C (n.787+3A>C) c.387A>C c.409+3A>C (n.409+3A>C) c.412+3A>C (n.412+3A>C) c.*726A>C (n.*726A>C) c.4+30441A>C (n.4+30441A>C) c.-43-20220A>C (n.-43-20220A>C) c.-99+30530A>C (n.-99+30530A>C) n.926A>C n.967A>C | |
17 | g.43094741T= | CA2260785237 | BRCA1 | n.854A= c.790A= (p.Ser264=) c.664A= (p.Ser222=) c.787A= (p.Ser263=) c.712A= (p.Ser238=) c.784+3A= (n.784+3A=) c.646+3A= (n.646+3A=) c.-99A= (n.-99A=) c.667A= (p.Ser223=) c.649A= (p.Ser217=) c.664+3A= (n.664+3A=) c.706+3A= (n.706+3A=) c.*798A= (n.*798A=) c.*664A= (n.*664A=) c.670+1105A= (n.670+1105A=) c.141A= c.*573A= (n.*573A=) c.787+3A= (n.787+3A=) c.387A= c.409+3A= (n.409+3A=) c.412+3A= (n.412+3A=) c.*726A= (n.*726A=) c.4+30441A= (n.4+30441A=) c.-43-20220A= (n.-43-20220A=) c.-99+30530A= (n.-99+30530A=) n.926A= n.967A= | |
17 | g.43094742A= | CA2260785238 | BRCA1 | n.853T= c.789T= (p.Gly263=) c.663T= (p.Gly221=) c.786T= (p.Gly262=) c.711T= (p.Gly237=) c.784+2T= (n.784+2T=) c.646+2T= (n.646+2T=) c.-100T= (n.-100T=) c.666T= (p.Gly222=) c.648T= (p.Gly216=) c.664+2T= (n.664+2T=) c.706+2T= (n.706+2T=) c.*797T= (n.*797T=) c.*663T= (n.*663T=) c.670+1104T= (n.670+1104T=) c.140T= c.*572T= (n.*572T=) c.787+2T= (n.787+2T=) c.386T= c.409+2T= (n.409+2T=) c.412+2T= (n.412+2T=) c.*725T= (n.*725T=) c.4+30440T= (n.4+30440T=) c.-43-20221T= (n.-43-20221T=) c.-99+30529T= (n.-99+30529T=) n.925T= n.966T= | |
17 | g.43094742A>C | CA10600502 | BRCA1 | n.853T>G c.789T>G (p.Gly263=) c.663T>G (p.Gly221=) c.786T>G (p.Gly262=) c.711T>G (p.Gly237=) c.784+2T>G (n.784+2T>G) c.646+2T>G (n.646+2T>G) c.-100T>G (n.-100T>G) c.666T>G (p.Gly222=) c.648T>G (p.Gly216=) c.664+2T>G (n.664+2T>G) c.706+2T>G (n.706+2T>G) c.*797T>G (n.*797T>G) c.*663T>G (n.*663T>G) c.670+1104T>G (n.670+1104T>G) c.140T>G c.*572T>G (n.*572T>G) c.787+2T>G (n.787+2T>G) c.386T>G c.409+2T>G (n.409+2T>G) c.412+2T>G (n.412+2T>G) c.*725T>G (n.*725T>G) c.4+30440T>G (n.4+30440T>G) c.-43-20221T>G (n.-43-20221T>G) c.-99+30529T>G (n.-99+30529T>G) n.925T>G n.966T>G | dbSNP |
17 | g.43094742A>G | CA003874 | BRCA1 | n.853T>C c.789T>C (p.Gly263=) c.663T>C (p.Gly221=) c.786T>C (p.Gly262=) c.711T>C (p.Gly237=) c.784+2T>C (n.784+2T>C) c.646+2T>C (n.646+2T>C) c.-100T>C (n.-100T>C) c.666T>C (p.Gly222=) c.648T>C (p.Gly216=) c.664+2T>C (n.664+2T>C) c.706+2T>C (n.706+2T>C) c.*797T>C (n.*797T>C) c.*663T>C (n.*663T>C) c.670+1104T>C (n.670+1104T>C) c.140T>C c.*572T>C (n.*572T>C) c.787+2T>C (n.787+2T>C) c.386T>C c.409+2T>C (n.409+2T>C) c.412+2T>C (n.412+2T>C) c.*725T>C (n.*725T>C) c.4+30440T>C (n.4+30440T>C) c.-43-20221T>C (n.-43-20221T>C) c.-99+30529T>C (n.-99+30529T>C) n.925T>C n.966T>C | ClinVar dbSNP |
17 | g.43094742A>T | CA10600503 | BRCA1 | n.853T>A c.789T>A (p.Gly263=) c.663T>A (p.Gly221=) c.786T>A (p.Gly262=) c.711T>A (p.Gly237=) c.784+2T>A (n.784+2T>A) c.646+2T>A (n.646+2T>A) c.-100T>A (n.-100T>A) c.666T>A (p.Gly222=) c.648T>A (p.Gly216=) c.664+2T>A (n.664+2T>A) c.706+2T>A (n.706+2T>A) c.*797T>A (n.*797T>A) c.*663T>A (n.*663T>A) c.670+1104T>A (n.670+1104T>A) c.140T>A c.*572T>A (n.*572T>A) c.787+2T>A (n.787+2T>A) c.386T>A c.409+2T>A (n.409+2T>A) c.412+2T>A (n.412+2T>A) c.*725T>A (n.*725T>A) c.4+30440T>A (n.4+30440T>A) c.-43-20221T>A (n.-43-20221T>A) c.-99+30529T>A (n.-99+30529T>A) n.925T>A n.966T>A | dbSNP |
17 | g.43094742_43094743del | CA2499224581 | BRCA1 | n.852_853del c.788_789del (p.Gly263GlufsTer23) c.662_663del (p.Gly221GlufsTer23) c.785_786del (p.Gly262GlufsTer23) c.710_711del (p.Gly237GlufsTer23) c.784+1_784+2del (n.784+1_784+2del) c.646+1_646+2del (n.646+1_646+2del) c.-101_-100del (n.-101_-100del) c.665_666del (p.Gly222GlufsTer23) c.647_648del (p.Gly216GlufsTer23) c.664+1_664+2del (n.664+1_664+2del) c.706+1_706+2del (n.706+1_706+2del) c.*796_*797del (n.*796_*797del) c.*662_*663del (n.*662_*663del) c.670+1103_670+1104del (n.670+1103_670+1104del) c.139_140del c.*571_*572del (n.*571_*572del) c.787+1_787+2del (n.787+1_787+2del) c.385_386del c.409+1_409+2del (n.409+1_409+2del) c.412+1_412+2del (n.412+1_412+2del) c.*724_*725del (n.*724_*725del) c.4+30439_4+30440del (n.4+30439_4+30440del) c.-43-20222_-43-20221del (n.-43-20222_-43-20221del) c.-99+30528_-99+30529del (n.-99+30528_-99+30529del) n.924_925del n.965_966del | |
17 | g.43094742_43094743delinsAC | CA2260785239 | BRCA1 | n.852_853delinsGT c.788_789delinsGT (p.Gly263=) c.662_663delinsGT (p.Gly221=) c.785_786delinsGT (p.Gly262=) c.710_711delinsGT (p.Gly237=) c.784+1_784+2delinsGT (n.784+1_784+2delinsGT) c.646+1_646+2delinsGT (n.646+1_646+2delinsGT) c.-101_-100delinsGT (n.-101_-100delinsGT) c.665_666delinsGT (p.Gly222=) c.647_648delinsGT (p.Gly216=) c.664+1_664+2delinsGT (n.664+1_664+2delinsGT) c.706+1_706+2delinsGT (n.706+1_706+2delinsGT) c.*796_*797delinsGT (n.*796_*797delinsGT) c.*662_*663delinsGT (n.*662_*663delinsGT) c.670+1103_670+1104delinsGT (n.670+1103_670+1104delinsGT) c.139_140delinsGT c.*571_*572delinsGT (n.*571_*572delinsGT) c.787+1_787+2delinsGT (n.787+1_787+2delinsGT) c.385_386delinsGT c.409+1_409+2delinsGT (n.409+1_409+2delinsGT) c.412+1_412+2delinsGT (n.412+1_412+2delinsGT) c.*724_*725delinsGT (n.*724_*725delinsGT) c.4+30439_4+30440delinsGT (n.4+30439_4+30440delinsGT) c.-43-20222_-43-20221delinsGT (n.-43-20222_-43-20221delinsGT) c.-99+30528_-99+30529delinsGT (n.-99+30528_-99+30529delinsGT) n.924_925delinsGT n.965_966delinsGT | |
17 | g.43094743C>A | CA003872 | BRCA1 | n.852G>T c.788G>T (p.Gly263Val) c.662G>T (p.Gly221Val) c.785G>T (p.Gly262Val) c.710G>T (p.Gly237Val) c.784+1G>T (n.784+1G>T) c.646+1G>T (n.646+1G>T) c.-101G>T (n.-101G>T) c.665G>T (p.Gly222Val) c.647G>T (p.Gly216Val) c.664+1G>T (n.664+1G>T) c.706+1G>T (n.706+1G>T) c.*796G>T (n.*796G>T) c.*662G>T (n.*662G>T) c.670+1103G>T (n.670+1103G>T) c.139G>T c.*571G>T (n.*571G>T) c.787+1G>T (n.787+1G>T) c.385G>T c.409+1G>T (n.409+1G>T) c.412+1G>T (n.412+1G>T) c.*724G>T (n.*724G>T) c.4+30439G>T (n.4+30439G>T) c.-43-20222G>T (n.-43-20222G>T) c.-99+30528G>T (n.-99+30528G>T) n.924G>T n.965G>T | ClinVar dbSNP |
17 | g.43094743C= | CA2260785240 | BRCA1 | n.852G= c.788G= (p.Gly263=) c.662G= (p.Gly221=) c.785G= (p.Gly262=) c.710G= (p.Gly237=) c.784+1G= (n.784+1G=) c.646+1G= (n.646+1G=) c.-101G= (n.-101G=) c.665G= (p.Gly222=) c.647G= (p.Gly216=) c.664+1G= (n.664+1G=) c.706+1G= (n.706+1G=) c.*796G= (n.*796G=) c.*662G= (n.*662G=) c.670+1103G= (n.670+1103G=) c.139G= c.*571G= (n.*571G=) c.787+1G= (n.787+1G=) c.385G= c.409+1G= (n.409+1G=) c.412+1G= (n.412+1G=) c.*724G= (n.*724G=) c.4+30439G= (n.4+30439G=) c.-43-20222G= (n.-43-20222G=) c.-99+30528G= (n.-99+30528G=) n.924G= n.965G= | |
17 | g.43094743C>G | CA003871 | BRCA1 | n.852G>C c.788G>C (p.Gly263Ala) c.662G>C (p.Gly221Ala) c.785G>C (p.Gly262Ala) c.710G>C (p.Gly237Ala) c.784+1G>C (n.784+1G>C) c.646+1G>C (n.646+1G>C) c.-101G>C (n.-101G>C) c.665G>C (p.Gly222Ala) c.647G>C (p.Gly216Ala) c.664+1G>C (n.664+1G>C) c.706+1G>C (n.706+1G>C) c.*796G>C (n.*796G>C) c.*662G>C (n.*662G>C) c.670+1103G>C (n.670+1103G>C) c.139G>C c.*571G>C (n.*571G>C) c.787+1G>C (n.787+1G>C) c.385G>C c.409+1G>C (n.409+1G>C) c.412+1G>C (n.412+1G>C) c.*724G>C (n.*724G>C) c.4+30439G>C (n.4+30439G>C) c.-43-20222G>C (n.-43-20222G>C) c.-99+30528G>C (n.-99+30528G>C) n.924G>C n.965G>C | ClinVar dbSNP |
17 | g.43094743C>T | CA003870 | BRCA1 | n.852G>A c.788G>A (p.Gly263Asp) c.662G>A (p.Gly221Asp) c.785G>A (p.Gly262Asp) c.710G>A (p.Gly237Asp) c.784+1G>A (n.784+1G>A) c.646+1G>A (n.646+1G>A) c.-101G>A (n.-101G>A) c.665G>A (p.Gly222Asp) c.647G>A (p.Gly216Asp) c.664+1G>A (n.664+1G>A) c.706+1G>A (n.706+1G>A) c.*796G>A (n.*796G>A) c.*662G>A (n.*662G>A) c.670+1103G>A (n.670+1103G>A) c.139G>A c.*571G>A (n.*571G>A) c.787+1G>A (n.787+1G>A) c.385G>A c.409+1G>A (n.409+1G>A) c.412+1G>A (n.412+1G>A) c.*724G>A (n.*724G>A) c.4+30439G>A (n.4+30439G>A) c.-43-20222G>A (n.-43-20222G>A) c.-99+30528G>A (n.-99+30528G>A) n.924G>A n.965G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.43094745dup | CA10589993 | BRCA1 | n.852dup c.788dup (p.Ser264Ter) c.662dup (p.Ser222Ter) c.785dup (p.Ser263Ter) c.710dup (p.Ser238Ter) c.784+1dup c.646+1dup c.-101dup (n.-101dup) c.665dup (p.Ser223Ter) c.647dup (p.Ser217Ter) c.664+1dup c.706+1dup c.*796dup (n.*796dup) c.*662dup (n.*662dup) c.670+1103dup (n.670+1103dup) c.139dup c.*571dup (n.*571dup) c.787+1dup c.385dup c.409+1dup c.412+1dup c.*724dup (n.*724dup) c.4+30439dup (n.4+30439dup) c.-43-20222dup (n.-43-20222dup) c.-99+30528dup (n.-99+30528dup) n.924dup n.965dup | ClinVar dbSNP |
17 | g.43094745del | CA1139664807 | BRCA1 | n.852del c.788del (p.Gly263ValfsTer?) c.662del (p.Gly221ValfsTer?) c.785del (p.Gly262ValfsTer?) c.710del (p.Gly237ValfsTer?) c.784+1del c.646+1del c.-101del (n.-101del) c.665del (p.Gly222ValfsTer?) c.647del (p.Gly216ValfsTer?) c.664+1del c.706+1del c.*796del (n.*796del) c.*662del (n.*662del) c.670+1103del (n.670+1103del) c.139del c.*571del (n.*571del) c.787+1del c.385del c.409+1del c.412+1del c.*724del (n.*724del) c.4+30439del (n.4+30439del) c.-43-20222del (n.-43-20222del) c.-99+30528del (n.-99+30528del) n.924del n.965del | ClinVar dbSNP |
17 | g.43094744C>A | CA003869 | BRCA1 | n.851G>T c.787G>T (p.Gly263Cys) c.661G>T (p.Gly221Cys) c.784G>T (p.Gly262Cys) c.709G>T (p.Gly237Cys) c.646G>T (p.Gly216Cys) c.-102G>T (n.-102G>T) c.664G>T (p.Gly222Cys) c.706G>T (p.Gly236Cys) c.*795G>T (n.*795G>T) c.*661G>T (n.*661G>T) c.670+1102G>T (n.670+1102G>T) c.138G>T c.*570G>T (n.*570G>T) c.384G>T c.409G>T (p.Gly137Cys) c.412G>T (p.Gly138Cys) c.*723G>T (n.*723G>T) c.4+30438G>T (n.4+30438G>T) c.-43-20223G>T (n.-43-20223G>T) c.-99+30527G>T (n.-99+30527G>T) n.923G>T n.964G>T | ClinVar dbSNP |