Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.43090942_43094828delCA2499224437BRCA1c.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
17g.43090946_43097291delCA2580061395BRCA1c.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
17g.43091435_43094858dupCA2579756134BRCA1n.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
17g.43091435_43094859dupCA2579756133BRCA1n.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
17g.43091437_43094862delCA2580618251BRCA1n.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
17g.43091633_43094861delCA2580618250BRCA1n.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
17g.43093751_43094887delCA10602596BRCA1n.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
17g.43093881_43094860dupCA2580618106BRCA1n.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
17g.43094513_43094886delCA1139664799BRCA1n.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
17g.43094557_43101117delCA16043351BRCA1n.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
17g.43094629_43095075delinsTTTTCTACATTCATTCTGTCTTTAGTGAGTAATAAACTGCTGTTCTCATGCTGTAATGAGCTGGCATGAGTATTTGTGCCACATGGCTCCACATGCAAGTTTGAAACAGAACTACCCTGATACTTTTCTGGATGCCTCTCAGCTGCACGCTTCTCAGTGGTGTTCAAATCATTATTACTGGGTTGATGATGTTCAGTATTTGTTACATCCGTCTCAGAAAATTCACAAGCAGCTGAAAATATACAAAAATAACAAGGTACTCAAAAACTGAATTGTCATTAAAAAAATACATACTTCATACACCTTGGAGGTGGAAATCAACCAACTGGCTATATTAGAGAAACTAACCTCATAAACTACCAAGTATACTGAAGATGTAGCTCATACTCTTTCATTTAATTCCTATTTACCTAGATTATTTCCACTTAGGATCCATTAAATTTTTAACA2260785126BRCA1n.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
17g.43094634_43095079delCA10602598BRCA1n.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
17g.43094634_43094640delinsTACATTCCA2260785132BRCA1n.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
17g.43094636_43094637delCA003953BRCA1n.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
17g.43094635_43094640delinsGACA16620442BRCA1n.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
17g.43094636_43094637delinsACCA2582342174BRCA1n.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
17g.43094636_43094637delinsCACA2260785134BRCA1n.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
17g.43094636_43094638delinsCATCA2260785135BRCA1n.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
17g.43094636_43094640delCA2499224576BRCA1n.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
17g.43094641_43094644dupCA003954BRCA1n.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
17g.43094637delCA919844525BRCA1n.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
17g.43094637A=CA2260785137BRCA1n.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=
17g.43094637A>CCA10600286BRCA1n.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
17g.43094637A>GCA500233305BRCA1n.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
17g.43094637A>TCA10600287BRCA1n.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
17g.43094637_43094638delCA658798855BRCA1n.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
17g.43094638T>ACA10600288BRCA1n.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
17g.43094638T>CCA056884BRCA1n.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
17g.43094638T>GCA10600289BRCA1n.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
17g.43094638T=CA2260785138BRCA1n.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=
17g.43094639T>ACA10600290BRCA1n.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
17g.43094639T>CCA10600291BRCA1n.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
17g.43094639T>GCA10600292BRCA1n.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
17g.43094639_43094640delinsATCA1139664803BRCA1n.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
17g.43094639_43094640delinsTCCA2260785139BRCA1n.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
17g.43094640_43094642dupCA2739265619BRCA1n.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
17g.43094640C>ACA10600293BRCA1n.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
17g.43094640C=CA2260785140BRCA1n.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=
17g.43094640C>GCA10600294BRCA1n.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
17g.43094640C>TCA003952BRCA1n.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
17g.43094641A=CA2260785141BRCA1n.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=
17g.43094641A>CCA10600295BRCA1n.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
17g.43094641A>GCA10600296BRCA1n.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
17g.43094641A>TCA003951BRCA1n.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
17g.43094642T>ACA10600297BRCA1n.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
17g.43094642T>CCA003950BRCA1n.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
17g.43094642T>GCA003948BRCA1n.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
17g.43094642T=CA2260785142BRCA1n.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=
17g.43094642_43094646delinsTTCTGCA2260785143BRCA1n.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
17g.43094643T>ACA10600298BRCA1n.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

Number of alleles fetched