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.43094690_43095554delCA2573154052BRCA1n.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
17g.43094735_43094737delinsCAGCA2260785231BRCA1n.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
17g.43094737_43094738delCA003879BRCA1n.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
17g.43094736_43094740delinsAGAACCA2260785233BRCA1n.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
17g.43094737G>ACA10600491BRCA1n.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
17g.43094737G>CCA10600492BRCA1n.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
17g.43094737G>TCA10600493BRCA1n.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
17g.43094737_43094740delCA354128BRCA1n.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
17g.43094738A=CA2260785234BRCA1n.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=
17g.43094738A>CCA10600494BRCA1n.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
17g.43094738A>GCA10600495BRCA1n.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
17g.43094738A>TCA10600496BRCA1n.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
17g.43094739A=CA2260785235BRCA1n.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=
17g.43094739A>CCA003878BRCA1n.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
17g.43094739A>GCA500233440BRCA1n.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
17g.43094739A>TCA10600497BRCA1n.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
17g.43094740delCA2573154063BRCA1n.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
17g.43094740C>ACA10600498BRCA1n.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
17g.43094740C=CA2260785236BRCA1n.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=
17g.43094740C>GCA10600499BRCA1n.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
17g.43094740C>TCA003877BRCA1n.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
17g.43094741T>ACA003875BRCA1n.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
17g.43094741T>CCA10600500BRCA1n.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
17g.43094741T>GCA10600501BRCA1n.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
17g.43094741T=CA2260785237BRCA1n.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=
17g.43094742A=CA2260785238BRCA1n.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=
17g.43094742A>CCA10600502BRCA1n.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
17g.43094742A>GCA003874BRCA1n.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
17g.43094742A>TCA10600503BRCA1n.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
17g.43094742_43094743delCA2499224581BRCA1n.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
17g.43094742_43094743delinsACCA2260785239BRCA1n.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
17g.43094743C>ACA003872BRCA1n.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
17g.43094743C=CA2260785240BRCA1n.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=
17g.43094743C>GCA003871BRCA1n.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
17g.43094743C>TCA003870BRCA1n.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
17g.43094745dupCA10589993BRCA1n.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
17g.43094745delCA1139664807BRCA1n.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
17g.43094744C>ACA003869BRCA1n.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

Number of alleles fetched