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.43094651_43094683delinsTAGTGAGTAATAAACTGCTGTTCTCATGCTGTACA2260785153BRCA1n.912_944delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA
c.848_880delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA (p.Leu283=)
c.722_754delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA (p.Leu241=)
c.845_877delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA (p.Leu282=)
c.770_802delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA (p.Leu257=)
c.784+61_784+93delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA (n.784+61_784+93delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA)
c.646+61_646+93delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA (n.646+61_646+93delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA)
c.-41_-9delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA (n.-41_-9delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA)
c.725_757delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA (p.Leu242=)
c.707_739delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA (p.Leu236=)
c.664+61_664+93delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA (n.664+61_664+93delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA)
c.706+61_706+93delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA (n.706+61_706+93delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA)
c.*856_*888delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA (n.*856_*888delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA)
c.*722_*754delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA (n.*722_*754delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA)
c.670+1163_670+1195delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA (n.670+1163_670+1195delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA)
c.199_231delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA
c.*631_*663delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA (n.*631_*663delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA)
c.787+61_787+93delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA (n.787+61_787+93delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA)
c.445_477delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA
c.409+61_409+93delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA (n.409+61_409+93delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA)
c.412+61_412+93delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA (n.412+61_412+93delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA)
c.*784_*816delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA (n.*784_*816delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA)
c.4+30499_4+30531delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA (n.4+30499_4+30531delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA)
c.-43-20162_-43-20130delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA (n.-43-20162_-43-20130delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA)
c.-99+30588_-99+30620delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA (n.-99+30588_-99+30620delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA)
n.984_1016delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA
n.1025_1057delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA
17g.43094653_43094684delCA10588656BRCA1n.912_943del
c.848_879del (p.Leu283Ter)
c.722_753del (p.Leu241Ter)
c.845_876del (p.Leu282Ter)
c.770_801del (p.Leu257Ter)
c.784+61_784+92del (n.784+61_784+92del)
c.646+61_646+92del (n.646+61_646+92del)
c.-41_-10del (n.-41_-10del)
c.725_756del (p.Leu242Ter)
c.707_738del (p.Leu236Ter)
c.664+61_664+92del (n.664+61_664+92del)
c.706+61_706+92del (n.706+61_706+92del)
c.*856_*887del (n.*856_*887del)
c.*722_*753del (n.*722_*753del)
c.670+1163_670+1194del (n.670+1163_670+1194del)
c.199_230del
c.*631_*662del (n.*631_*662del)
c.787+61_787+92del (n.787+61_787+92del)
c.445_476del
c.409+61_409+92del (n.409+61_409+92del)
c.412+61_412+92del (n.412+61_412+92del)
c.*784_*815del (n.*784_*815del)
c.4+30499_4+30530del (n.4+30499_4+30530del)
c.-43-20162_-43-20131del (n.-43-20162_-43-20131del)
c.-99+30588_-99+30619del (n.-99+30588_-99+30619del)
n.984_1015del
n.1025_1056del
 ClinVar dbSNP
17g.43094664delCA658824551BRCA1n.933del
c.869del (p.Leu290TyrfsTer8)
c.743del (p.Leu248TyrfsTer8)
c.866del (p.Leu289TyrfsTer8)
c.791del (p.Leu264TyrfsTer8)
c.784+82del (n.784+82del)
c.646+82del (n.646+82del)
c.-20del (n.-20del)
c.746del (p.Leu249TyrfsTer8)
c.728del (p.Leu243TyrfsTer8)
c.664+82del (n.664+82del)
c.706+82del (n.706+82del)
c.*877del (n.*877del)
c.*743del (n.*743del)
c.670+1184del (n.670+1184del)
c.220del
c.*652del (n.*652del)
c.787+82del (n.787+82del)
c.466del
c.409+82del (n.409+82del)
c.412+82del (n.412+82del)
c.*805del (n.*805del)
c.4+30520del (n.4+30520del)
c.-43-20141del (n.-43-20141del)
c.-99+30609del (n.-99+30609del)
n.1005del
n.1046del
 ClinVar dbSNP
17g.43094663A>CCA10600341BRCA1n.932T>G
c.868T>G (p.Leu290Val)
c.742T>G (p.Leu248Val)
c.865T>G (p.Leu289Val)
c.790T>G (p.Leu264Val)
c.784+81T>G (n.784+81T>G)
c.646+81T>G (n.646+81T>G)
c.-21T>G (n.-21T>G)
c.745T>G (p.Leu249Val)
c.727T>G (p.Leu243Val)
c.664+81T>G (n.664+81T>G)
c.706+81T>G (n.706+81T>G)
c.*876T>G (n.*876T>G)
c.*742T>G (n.*742T>G)
c.670+1183T>G (n.670+1183T>G)
c.219T>G
c.*651T>G (n.*651T>G)
c.787+81T>G (n.787+81T>G)
c.465T>G
c.409+81T>G (n.409+81T>G)
c.412+81T>G (n.412+81T>G)
c.*804T>G (n.*804T>G)
c.4+30519T>G (n.4+30519T>G)
c.-43-20142T>G (n.-43-20142T>G)
c.-99+30608T>G (n.-99+30608T>G)
n.1004T>G
n.1045T>G
 dbSNP
17g.43094663A>GCA500233342BRCA1n.932T>C
c.868T>C (p.Leu290=)
c.742T>C (p.Leu248=)
c.865T>C (p.Leu289=)
c.790T>C (p.Leu264=)
c.784+81T>C (n.784+81T>C)
c.646+81T>C (n.646+81T>C)
c.-21T>C (n.-21T>C)
c.745T>C (p.Leu249=)
c.727T>C (p.Leu243=)
c.664+81T>C (n.664+81T>C)
c.706+81T>C (n.706+81T>C)
c.*876T>C (n.*876T>C)
c.*742T>C (n.*742T>C)
c.670+1183T>C (n.670+1183T>C)
c.219T>C
c.*651T>C (n.*651T>C)
c.787+81T>C (n.787+81T>C)
c.465T>C
c.409+81T>C (n.409+81T>C)
c.412+81T>C (n.412+81T>C)
c.*804T>C (n.*804T>C)
c.4+30519T>C (n.4+30519T>C)
c.-43-20142T>C (n.-43-20142T>C)
c.-99+30608T>C (n.-99+30608T>C)
n.1004T>C
n.1045T>C
17g.43094663A>TCA10600342BRCA1n.932T>A
c.868T>A (p.Leu290Ile)
c.742T>A (p.Leu248Ile)
c.865T>A (p.Leu289Ile)
c.790T>A (p.Leu264Ile)
c.784+81T>A (n.784+81T>A)
c.646+81T>A (n.646+81T>A)
c.-21T>A (n.-21T>A)
c.745T>A (p.Leu249Ile)
c.727T>A (p.Leu243Ile)
c.664+81T>A (n.664+81T>A)
c.706+81T>A (n.706+81T>A)
c.*876T>A (n.*876T>A)
c.*742T>A (n.*742T>A)
c.670+1183T>A (n.670+1183T>A)
c.219T>A
c.*651T>A (n.*651T>A)
c.787+81T>A (n.787+81T>A)
c.465T>A
c.409+81T>A (n.409+81T>A)
c.412+81T>A (n.412+81T>A)
c.*804T>A (n.*804T>A)
c.4+30519T>A (n.4+30519T>A)
c.-43-20142T>A (n.-43-20142T>A)
c.-99+30608T>A (n.-99+30608T>A)
n.1004T>A
n.1045T>A
 dbSNP
17g.43094664A>CCA10600343BRCA1n.931T>G
c.867T>G (p.Ser289Arg)
c.741T>G (p.Ser247Arg)
c.864T>G (p.Ser288Arg)
c.789T>G (p.Ser263Arg)
c.784+80T>G (n.784+80T>G)
c.646+80T>G (n.646+80T>G)
c.-22T>G (n.-22T>G)
c.744T>G (p.Ser248Arg)
c.726T>G (p.Ser242Arg)
c.664+80T>G (n.664+80T>G)
c.706+80T>G (n.706+80T>G)
c.*875T>G (n.*875T>G)
c.*741T>G (n.*741T>G)
c.670+1182T>G (n.670+1182T>G)
c.218T>G
c.*650T>G (n.*650T>G)
c.787+80T>G (n.787+80T>G)
c.464T>G
c.409+80T>G (n.409+80T>G)
c.412+80T>G (n.412+80T>G)
c.*803T>G (n.*803T>G)
c.4+30518T>G (n.4+30518T>G)
c.-43-20143T>G (n.-43-20143T>G)
c.-99+30607T>G (n.-99+30607T>G)
n.1003T>G
n.1044T>G
 dbSNP
17g.43094664A>GCA500233346BRCA1n.931T>C
c.867T>C (p.Ser289=)
c.741T>C (p.Ser247=)
c.864T>C (p.Ser288=)
c.789T>C (p.Ser263=)
c.784+80T>C (n.784+80T>C)
c.646+80T>C (n.646+80T>C)
c.-22T>C (n.-22T>C)
c.744T>C (p.Ser248=)
c.726T>C (p.Ser242=)
c.664+80T>C (n.664+80T>C)
c.706+80T>C (n.706+80T>C)
c.*875T>C (n.*875T>C)
c.*741T>C (n.*741T>C)
c.670+1182T>C (n.670+1182T>C)
c.218T>C
c.*650T>C (n.*650T>C)
c.787+80T>C (n.787+80T>C)
c.464T>C
c.409+80T>C (n.409+80T>C)
c.412+80T>C (n.412+80T>C)
c.*803T>C (n.*803T>C)
c.4+30518T>C (n.4+30518T>C)
c.-43-20143T>C (n.-43-20143T>C)
c.-99+30607T>C (n.-99+30607T>C)
n.1003T>C
n.1044T>C
17g.43094664A>TCA10600344BRCA1n.931T>A
c.867T>A (p.Ser289Arg)
c.741T>A (p.Ser247Arg)
c.864T>A (p.Ser288Arg)
c.789T>A (p.Ser263Arg)
c.784+80T>A (n.784+80T>A)
c.646+80T>A (n.646+80T>A)
c.-22T>A (n.-22T>A)
c.744T>A (p.Ser248Arg)
c.726T>A (p.Ser242Arg)
c.664+80T>A (n.664+80T>A)
c.706+80T>A (n.706+80T>A)
c.*875T>A (n.*875T>A)
c.*741T>A (n.*741T>A)
c.670+1182T>A (n.670+1182T>A)
c.218T>A
c.*650T>A (n.*650T>A)
c.787+80T>A (n.787+80T>A)
c.464T>A
c.409+80T>A (n.409+80T>A)
c.412+80T>A (n.412+80T>A)
c.*803T>A (n.*803T>A)
c.4+30518T>A (n.4+30518T>A)
c.-43-20143T>A (n.-43-20143T>A)
c.-99+30607T>A (n.-99+30607T>A)
n.1003T>A
n.1044T>A
 dbSNP
17g.43094664_43094667delinsACTGCA2260785167BRCA1n.928_931delinsCAGT
c.864_867delinsCAGT (p.Ser288=)
c.738_741delinsCAGT (p.Ser246=)
c.861_864delinsCAGT (p.Ser287=)
c.786_789delinsCAGT (p.Ser262=)
c.784+77_784+80delinsCAGT (n.784+77_784+80delinsCAGT)
c.646+77_646+80delinsCAGT (n.646+77_646+80delinsCAGT)
c.-25_-22delinsCAGT (n.-25_-22delinsCAGT)
c.741_744delinsCAGT (p.Ser247=)
c.723_726delinsCAGT (p.Ser241=)
c.664+77_664+80delinsCAGT (n.664+77_664+80delinsCAGT)
c.706+77_706+80delinsCAGT (n.706+77_706+80delinsCAGT)
c.*872_*875delinsCAGT (n.*872_*875delinsCAGT)
c.*738_*741delinsCAGT (n.*738_*741delinsCAGT)
c.670+1179_670+1182delinsCAGT (n.670+1179_670+1182delinsCAGT)
c.215_218delinsCAGT
c.*647_*650delinsCAGT (n.*647_*650delinsCAGT)
c.787+77_787+80delinsCAGT (n.787+77_787+80delinsCAGT)
c.461_464delinsCAGT
c.409+77_409+80delinsCAGT (n.409+77_409+80delinsCAGT)
c.412+77_412+80delinsCAGT (n.412+77_412+80delinsCAGT)
c.*800_*803delinsCAGT (n.*800_*803delinsCAGT)
c.4+30515_4+30518delinsCAGT (n.4+30515_4+30518delinsCAGT)
c.-43-20146_-43-20143delinsCAGT (n.-43-20146_-43-20143delinsCAGT)
c.-99+30604_-99+30607delinsCAGT (n.-99+30604_-99+30607delinsCAGT)
n.1000_1003delinsCAGT
n.1041_1044delinsCAGT
17g.43094665C>ACA10600345BRCA1n.930G>T
c.866G>T (p.Ser289Ile)
c.740G>T (p.Ser247Ile)
c.863G>T (p.Ser288Ile)
c.788G>T (p.Ser263Ile)
c.784+79G>T (n.784+79G>T)
c.646+79G>T (n.646+79G>T)
c.-23G>T (n.-23G>T)
c.743G>T (p.Ser248Ile)
c.725G>T (p.Ser242Ile)
c.664+79G>T (n.664+79G>T)
c.706+79G>T (n.706+79G>T)
c.*874G>T (n.*874G>T)
c.*740G>T (n.*740G>T)
c.670+1181G>T (n.670+1181G>T)
c.217G>T
c.*649G>T (n.*649G>T)
c.787+79G>T (n.787+79G>T)
c.463G>T
c.409+79G>T (n.409+79G>T)
c.412+79G>T (n.412+79G>T)
c.*802G>T (n.*802G>T)
c.4+30517G>T (n.4+30517G>T)
c.-43-20144G>T (n.-43-20144G>T)
c.-99+30606G>T (n.-99+30606G>T)
n.1002G>T
n.1043G>T
 dbSNP
17g.43094665C=CA2260785168BRCA1n.930G=
c.866G= (p.Ser289=)
c.740G= (p.Ser247=)
c.863G= (p.Ser288=)
c.788G= (p.Ser263=)
c.784+79G= (n.784+79G=)
c.646+79G= (n.646+79G=)
c.-23G= (n.-23G=)
c.743G= (p.Ser248=)
c.725G= (p.Ser242=)
c.664+79G= (n.664+79G=)
c.706+79G= (n.706+79G=)
c.*874G= (n.*874G=)
c.*740G= (n.*740G=)
c.670+1181G= (n.670+1181G=)
c.217G=
c.*649G= (n.*649G=)
c.787+79G= (n.787+79G=)
c.463G=
c.409+79G= (n.409+79G=)
c.412+79G= (n.412+79G=)
c.*802G= (n.*802G=)
c.4+30517G= (n.4+30517G=)
c.-43-20144G= (n.-43-20144G=)
c.-99+30606G= (n.-99+30606G=)
n.1002G=
n.1043G=
17g.43094665C>GCA10600346BRCA1n.930G>C
c.866G>C (p.Ser289Thr)
c.740G>C (p.Ser247Thr)
c.863G>C (p.Ser288Thr)
c.788G>C (p.Ser263Thr)
c.784+79G>C (n.784+79G>C)
c.646+79G>C (n.646+79G>C)
c.-23G>C (n.-23G>C)
c.743G>C (p.Ser248Thr)
c.725G>C (p.Ser242Thr)
c.664+79G>C (n.664+79G>C)
c.706+79G>C (n.706+79G>C)
c.*874G>C (n.*874G>C)
c.*740G>C (n.*740G>C)
c.670+1181G>C (n.670+1181G>C)
c.217G>C
c.*649G>C (n.*649G>C)
c.787+79G>C (n.787+79G>C)
c.463G>C
c.409+79G>C (n.409+79G>C)
c.412+79G>C (n.412+79G>C)
c.*802G>C (n.*802G>C)
c.4+30517G>C (n.4+30517G>C)
c.-43-20144G>C (n.-43-20144G>C)
c.-99+30606G>C (n.-99+30606G>C)
n.1002G>C
n.1043G>C
 ClinVar dbSNP
17g.43094665C>TCA056835BRCA1n.930G>A
c.866G>A (p.Ser289Asn)
c.740G>A (p.Ser247Asn)
c.863G>A (p.Ser288Asn)
c.788G>A (p.Ser263Asn)
c.784+79G>A (n.784+79G>A)
c.646+79G>A (n.646+79G>A)
c.-23G>A (n.-23G>A)
c.743G>A (p.Ser248Asn)
c.725G>A (p.Ser242Asn)
c.664+79G>A (n.664+79G>A)
c.706+79G>A (n.706+79G>A)
c.*874G>A (n.*874G>A)
c.*740G>A (n.*740G>A)
c.670+1181G>A (n.670+1181G>A)
c.217G>A
c.*649G>A (n.*649G>A)
c.787+79G>A (n.787+79G>A)
c.463G>A
c.409+79G>A (n.409+79G>A)
c.412+79G>A (n.412+79G>A)
c.*802G>A (n.*802G>A)
c.4+30517G>A (n.4+30517G>A)
c.-43-20144G>A (n.-43-20144G>A)
c.-99+30606G>A (n.-99+30606G>A)
n.1002G>A
n.1043G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43094668_43094670delCA10586120BRCA1n.928_930del
c.864_866del (p.Ser289del)
c.738_740del (p.Ser247del)
c.861_863del (p.Ser288del)
c.786_788del (p.Ser263del)
c.784+77_784+79del (n.784+77_784+79del)
c.646+77_646+79del (n.646+77_646+79del)
c.-25_-23del (n.-25_-23del)
c.741_743del (p.Ser248del)
c.723_725del (p.Ser242del)
c.664+77_664+79del (n.664+77_664+79del)
c.706+77_706+79del (n.706+77_706+79del)
c.*872_*874del (n.*872_*874del)
c.*738_*740del (n.*738_*740del)
c.670+1179_670+1181del (n.670+1179_670+1181del)
c.215_217del
c.*647_*649del (n.*647_*649del)
c.787+77_787+79del (n.787+77_787+79del)
c.461_463del
c.409+77_409+79del (n.409+77_409+79del)
c.412+77_412+79del (n.412+77_412+79del)
c.*800_*802del (n.*800_*802del)
c.4+30515_4+30517del (n.4+30515_4+30517del)
c.-43-20146_-43-20144del (n.-43-20146_-43-20144del)
c.-99+30604_-99+30606del (n.-99+30604_-99+30606del)
n.1000_1002del
n.1041_1043del
 ClinVar dbSNP
17g.43094666T>ACA10600347BRCA1n.929A>T
c.865A>T (p.Ser289Cys)
c.739A>T (p.Ser247Cys)
c.862A>T (p.Ser288Cys)
c.787A>T (p.Ser263Cys)
c.784+78A>T (n.784+78A>T)
c.646+78A>T (n.646+78A>T)
c.-24A>T (n.-24A>T)
c.742A>T (p.Ser248Cys)
c.724A>T (p.Ser242Cys)
c.664+78A>T (n.664+78A>T)
c.706+78A>T (n.706+78A>T)
c.*873A>T (n.*873A>T)
c.*739A>T (n.*739A>T)
c.670+1180A>T (n.670+1180A>T)
c.216A>T
c.*648A>T (n.*648A>T)
c.787+78A>T (n.787+78A>T)
c.462A>T
c.409+78A>T (n.409+78A>T)
c.412+78A>T (n.412+78A>T)
c.*801A>T (n.*801A>T)
c.4+30516A>T (n.4+30516A>T)
c.-43-20145A>T (n.-43-20145A>T)
c.-99+30605A>T (n.-99+30605A>T)
n.1001A>T
n.1042A>T
 dbSNP
17g.43094666T>CCA10600348BRCA1n.929A>G
c.865A>G (p.Ser289Gly)
c.739A>G (p.Ser247Gly)
c.862A>G (p.Ser288Gly)
c.787A>G (p.Ser263Gly)
c.784+78A>G (n.784+78A>G)
c.646+78A>G (n.646+78A>G)
c.-24A>G (n.-24A>G)
c.742A>G (p.Ser248Gly)
c.724A>G (p.Ser242Gly)
c.664+78A>G (n.664+78A>G)
c.706+78A>G (n.706+78A>G)
c.*873A>G (n.*873A>G)
c.*739A>G (n.*739A>G)
c.670+1180A>G (n.670+1180A>G)
c.216A>G
c.*648A>G (n.*648A>G)
c.787+78A>G (n.787+78A>G)
c.462A>G
c.409+78A>G (n.409+78A>G)
c.412+78A>G (n.412+78A>G)
c.*801A>G (n.*801A>G)
c.4+30516A>G (n.4+30516A>G)
c.-43-20145A>G (n.-43-20145A>G)
c.-99+30605A>G (n.-99+30605A>G)
n.1001A>G
n.1042A>G
 dbSNP
17g.43094666T>GCA10600349BRCA1n.929A>C
c.865A>C (p.Ser289Arg)
c.739A>C (p.Ser247Arg)
c.862A>C (p.Ser288Arg)
c.787A>C (p.Ser263Arg)
c.784+78A>C (n.784+78A>C)
c.646+78A>C (n.646+78A>C)
c.-24A>C (n.-24A>C)
c.742A>C (p.Ser248Arg)
c.724A>C (p.Ser242Arg)
c.664+78A>C (n.664+78A>C)
c.706+78A>C (n.706+78A>C)
c.*873A>C (n.*873A>C)
c.*739A>C (n.*739A>C)
c.670+1180A>C (n.670+1180A>C)
c.216A>C
c.*648A>C (n.*648A>C)
c.787+78A>C (n.787+78A>C)
c.462A>C
c.409+78A>C (n.409+78A>C)
c.412+78A>C (n.412+78A>C)
c.*801A>C (n.*801A>C)
c.4+30516A>C (n.4+30516A>C)
c.-43-20145A>C (n.-43-20145A>C)
c.-99+30605A>C (n.-99+30605A>C)
n.1001A>C
n.1042A>C
17g.43094667G>ACA500233353BRCA1n.928C>T
c.864C>T (p.Ser288=)
c.738C>T (p.Ser246=)
c.861C>T (p.Ser287=)
c.786C>T (p.Ser262=)
c.784+77C>T (n.784+77C>T)
c.646+77C>T (n.646+77C>T)
c.-25C>T (n.-25C>T)
c.741C>T (p.Ser247=)
c.723C>T (p.Ser241=)
c.664+77C>T (n.664+77C>T)
c.706+77C>T (n.706+77C>T)
c.*872C>T (n.*872C>T)
c.*738C>T (n.*738C>T)
c.670+1179C>T (n.670+1179C>T)
c.215C>T
c.*647C>T (n.*647C>T)
c.787+77C>T (n.787+77C>T)
c.461C>T
c.409+77C>T (n.409+77C>T)
c.412+77C>T (n.412+77C>T)
c.*800C>T (n.*800C>T)
c.4+30515C>T (n.4+30515C>T)
c.-43-20146C>T (n.-43-20146C>T)
c.-99+30604C>T (n.-99+30604C>T)
n.1000C>T
n.1041C>T
 ClinVar dbSNP
17g.43094667G>CCA10600350BRCA1n.928C>G
c.864C>G (p.Ser288Arg)
c.738C>G (p.Ser246Arg)
c.861C>G (p.Ser287Arg)
c.786C>G (p.Ser262Arg)
c.784+77C>G (n.784+77C>G)
c.646+77C>G (n.646+77C>G)
c.-25C>G (n.-25C>G)
c.741C>G (p.Ser247Arg)
c.723C>G (p.Ser241Arg)
c.664+77C>G (n.664+77C>G)
c.706+77C>G (n.706+77C>G)
c.*872C>G (n.*872C>G)
c.*738C>G (n.*738C>G)
c.670+1179C>G (n.670+1179C>G)
c.215C>G
c.*647C>G (n.*647C>G)
c.787+77C>G (n.787+77C>G)
c.461C>G
c.409+77C>G (n.409+77C>G)
c.412+77C>G (n.412+77C>G)
c.*800C>G (n.*800C>G)
c.4+30515C>G (n.4+30515C>G)
c.-43-20146C>G (n.-43-20146C>G)
c.-99+30604C>G (n.-99+30604C>G)
n.1000C>G
n.1041C>G
 dbSNP
17g.43094667G=CA2260785169BRCA1n.928C=
c.864C= (p.Ser288=)
c.738C= (p.Ser246=)
c.861C= (p.Ser287=)
c.786C= (p.Ser262=)
c.784+77C= (n.784+77C=)
c.646+77C= (n.646+77C=)
c.-25C= (n.-25C=)
c.741C= (p.Ser247=)
c.723C= (p.Ser241=)
c.664+77C= (n.664+77C=)
c.706+77C= (n.706+77C=)
c.*872C= (n.*872C=)
c.*738C= (n.*738C=)
c.670+1179C= (n.670+1179C=)
c.215C=
c.*647C= (n.*647C=)
c.787+77C= (n.787+77C=)
c.461C=
c.409+77C= (n.409+77C=)
c.412+77C= (n.412+77C=)
c.*800C= (n.*800C=)
c.4+30515C= (n.4+30515C=)
c.-43-20146C= (n.-43-20146C=)
c.-99+30604C= (n.-99+30604C=)
n.1000C=
n.1041C=
17g.43094667G>TCA056832BRCA1n.928C>A
c.864C>A (p.Ser288Arg)
c.738C>A (p.Ser246Arg)
c.861C>A (p.Ser287Arg)
c.786C>A (p.Ser262Arg)
c.784+77C>A (n.784+77C>A)
c.646+77C>A (n.646+77C>A)
c.-25C>A (n.-25C>A)
c.741C>A (p.Ser247Arg)
c.723C>A (p.Ser241Arg)
c.664+77C>A (n.664+77C>A)
c.706+77C>A (n.706+77C>A)
c.*872C>A (n.*872C>A)
c.*738C>A (n.*738C>A)
c.670+1179C>A (n.670+1179C>A)
c.215C>A
c.*647C>A (n.*647C>A)
c.787+77C>A (n.787+77C>A)
c.461C>A
c.409+77C>A (n.409+77C>A)
c.412+77C>A (n.412+77C>A)
c.*800C>A (n.*800C>A)
c.4+30515C>A (n.4+30515C>A)
c.-43-20146C>A (n.-43-20146C>A)
c.-99+30604C>A (n.-99+30604C>A)
n.1000C>A
n.1041C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.43094668C>ACA10600351BRCA1n.927G>T
c.863G>T (p.Ser288Ile)
c.737G>T (p.Ser246Ile)
c.860G>T (p.Ser287Ile)
c.785G>T (p.Ser262Ile)
c.784+76G>T (n.784+76G>T)
c.646+76G>T (n.646+76G>T)
c.-26G>T (n.-26G>T)
c.740G>T (p.Ser247Ile)
c.722G>T (p.Ser241Ile)
c.664+76G>T (n.664+76G>T)
c.706+76G>T (n.706+76G>T)
c.*871G>T (n.*871G>T)
c.*737G>T (n.*737G>T)
c.670+1178G>T (n.670+1178G>T)
c.214G>T
c.*646G>T (n.*646G>T)
c.787+76G>T (n.787+76G>T)
c.460G>T
c.409+76G>T (n.409+76G>T)
c.412+76G>T (n.412+76G>T)
c.*799G>T (n.*799G>T)
c.4+30514G>T (n.4+30514G>T)
c.-43-20147G>T (n.-43-20147G>T)
c.-99+30603G>T (n.-99+30603G>T)
n.999G>T
n.1040G>T
 dbSNP
17g.43094668C=CA2260785170BRCA1n.927G=
c.863G= (p.Ser288=)
c.737G= (p.Ser246=)
c.860G= (p.Ser287=)
c.785G= (p.Ser262=)
c.784+76G= (n.784+76G=)
c.646+76G= (n.646+76G=)
c.-26G= (n.-26G=)
c.740G= (p.Ser247=)
c.722G= (p.Ser241=)
c.664+76G= (n.664+76G=)
c.706+76G= (n.706+76G=)
c.*871G= (n.*871G=)
c.*737G= (n.*737G=)
c.670+1178G= (n.670+1178G=)
c.214G=
c.*646G= (n.*646G=)
c.787+76G= (n.787+76G=)
c.460G=
c.409+76G= (n.409+76G=)
c.412+76G= (n.412+76G=)
c.*799G= (n.*799G=)
c.4+30514G= (n.4+30514G=)
c.-43-20147G= (n.-43-20147G=)
c.-99+30603G= (n.-99+30603G=)
n.999G=
n.1040G=
17g.43094668C>GCA10600352BRCA1n.927G>C
c.863G>C (p.Ser288Thr)
c.737G>C (p.Ser246Thr)
c.860G>C (p.Ser287Thr)
c.785G>C (p.Ser262Thr)
c.784+76G>C (n.784+76G>C)
c.646+76G>C (n.646+76G>C)
c.-26G>C (n.-26G>C)
c.740G>C (p.Ser247Thr)
c.722G>C (p.Ser241Thr)
c.664+76G>C (n.664+76G>C)
c.706+76G>C (n.706+76G>C)
c.*871G>C (n.*871G>C)
c.*737G>C (n.*737G>C)
c.670+1178G>C (n.670+1178G>C)
c.214G>C
c.*646G>C (n.*646G>C)
c.787+76G>C (n.787+76G>C)
c.460G>C
c.409+76G>C (n.409+76G>C)
c.412+76G>C (n.412+76G>C)
c.*799G>C (n.*799G>C)
c.4+30514G>C (n.4+30514G>C)
c.-43-20147G>C (n.-43-20147G>C)
c.-99+30603G>C (n.-99+30603G>C)
n.999G>C
n.1040G>C
 dbSNP
17g.43094668C>TCA10600353BRCA1n.927G>A
c.863G>A (p.Ser288Asn)
c.737G>A (p.Ser246Asn)
c.860G>A (p.Ser287Asn)
c.785G>A (p.Ser262Asn)
c.784+76G>A (n.784+76G>A)
c.646+76G>A (n.646+76G>A)
c.-26G>A (n.-26G>A)
c.740G>A (p.Ser247Asn)
c.722G>A (p.Ser241Asn)
c.664+76G>A (n.664+76G>A)
c.706+76G>A (n.706+76G>A)
c.*871G>A (n.*871G>A)
c.*737G>A (n.*737G>A)
c.670+1178G>A (n.670+1178G>A)
c.214G>A
c.*646G>A (n.*646G>A)
c.787+76G>A (n.787+76G>A)
c.460G>A
c.409+76G>A (n.409+76G>A)
c.412+76G>A (n.412+76G>A)
c.*799G>A (n.*799G>A)
c.4+30514G>A (n.4+30514G>A)
c.-43-20147G>A (n.-43-20147G>A)
c.-99+30603G>A (n.-99+30603G>A)
n.999G>A
n.1040G>A
 ClinVar dbSNP
17g.43094668_43094669delinsCTCA2260785171BRCA1n.926_927delinsAG
c.862_863delinsAG (p.Ser288=)
c.736_737delinsAG (p.Ser246=)
c.859_860delinsAG (p.Ser287=)
c.784_785delinsAG (p.Ser262=)
c.784+75_784+76delinsAG (n.784+75_784+76delinsAG)
c.646+75_646+76delinsAG (n.646+75_646+76delinsAG)
c.-27_-26delinsAG (n.-27_-26delinsAG)
c.739_740delinsAG (p.Ser247=)
c.721_722delinsAG (p.Ser241=)
c.664+75_664+76delinsAG (n.664+75_664+76delinsAG)
c.706+75_706+76delinsAG (n.706+75_706+76delinsAG)
c.*870_*871delinsAG (n.*870_*871delinsAG)
c.*736_*737delinsAG (n.*736_*737delinsAG)
c.670+1177_670+1178delinsAG (n.670+1177_670+1178delinsAG)
c.213_214delinsAG
c.*645_*646delinsAG (n.*645_*646delinsAG)
c.787+75_787+76delinsAG (n.787+75_787+76delinsAG)
c.459_460delinsAG
c.409+75_409+76delinsAG (n.409+75_409+76delinsAG)
c.412+75_412+76delinsAG (n.412+75_412+76delinsAG)
c.*798_*799delinsAG (n.*798_*799delinsAG)
c.4+30513_4+30514delinsAG (n.4+30513_4+30514delinsAG)
c.-43-20148_-43-20147delinsAG (n.-43-20148_-43-20147delinsAG)
c.-99+30602_-99+30603delinsAG (n.-99+30602_-99+30603delinsAG)
n.998_999delinsAG
n.1039_1040delinsAG
17g.43094670_43094674delCA645597393BRCA1n.923_927del
c.859_863del (p.Asn287GlnfsTer6)
c.733_737del (p.Asn245GlnfsTer6)
c.856_860del (p.Asn286GlnfsTer6)
c.781_785del (p.Asn261GlnfsTer6)
c.784+72_784+76del (n.784+72_784+76del)
c.646+72_646+76del (n.646+72_646+76del)
c.-30_-26del (n.-30_-26del)
c.736_740del (p.Asn246GlnfsTer6)
c.718_722del (p.Asn240GlnfsTer6)
c.664+72_664+76del (n.664+72_664+76del)
c.706+72_706+76del (n.706+72_706+76del)
c.*867_*871del (n.*867_*871del)
c.*733_*737del (n.*733_*737del)
c.670+1174_670+1178del (n.670+1174_670+1178del)
c.210_214del
c.*642_*646del (n.*642_*646del)
c.787+72_787+76del (n.787+72_787+76del)
c.456_460del
c.409+72_409+76del (n.409+72_409+76del)
c.412+72_412+76del (n.412+72_412+76del)
c.*795_*799del (n.*795_*799del)
c.4+30510_4+30514del (n.4+30510_4+30514del)
c.-43-20151_-43-20147del (n.-43-20151_-43-20147del)
c.-99+30599_-99+30603del (n.-99+30599_-99+30603del)
n.995_999del
n.1036_1040del
 COSMIC
17g.43094669delCA10589986BRCA1n.926del
c.862del (p.Ser288AlafsTer10)
c.736del (p.Ser246AlafsTer10)
c.859del (p.Ser287AlafsTer10)
c.784del (p.Ser262AlafsTer10)
c.784+75del (n.784+75del)
c.646+75del (n.646+75del)
c.-27del (n.-27del)
c.739del (p.Ser247AlafsTer10)
c.721del (p.Ser241AlafsTer10)
c.664+75del (n.664+75del)
c.706+75del (n.706+75del)
c.*870del (n.*870del)
c.*736del (n.*736del)
c.670+1177del (n.670+1177del)
c.213del
c.*645del (n.*645del)
c.787+75del (n.787+75del)
c.459del
c.409+75del (n.409+75del)
c.412+75del (n.412+75del)
c.*798del (n.*798del)
c.4+30513del (n.4+30513del)
c.-43-20148del (n.-43-20148del)
c.-99+30602del (n.-99+30602del)
n.998del
n.1039del
 ClinVar dbSNP
17g.43094669T>ACA10600354BRCA1n.926A>T
c.862A>T (p.Ser288Cys)
c.736A>T (p.Ser246Cys)
c.859A>T (p.Ser287Cys)
c.784A>T (p.Ser262Cys)
c.784+75A>T (n.784+75A>T)
c.646+75A>T (n.646+75A>T)
c.-27A>T (n.-27A>T)
c.739A>T (p.Ser247Cys)
c.721A>T (p.Ser241Cys)
c.664+75A>T (n.664+75A>T)
c.706+75A>T (n.706+75A>T)
c.*870A>T (n.*870A>T)
c.*736A>T (n.*736A>T)
c.670+1177A>T (n.670+1177A>T)
c.213A>T
c.*645A>T (n.*645A>T)
c.787+75A>T (n.787+75A>T)
c.459A>T
c.409+75A>T (n.409+75A>T)
c.412+75A>T (n.412+75A>T)
c.*798A>T (n.*798A>T)
c.4+30513A>T (n.4+30513A>T)
c.-43-20148A>T (n.-43-20148A>T)
c.-99+30602A>T (n.-99+30602A>T)
n.998A>T
n.1039A>T
 dbSNP
17g.43094669T>CCA10600355BRCA1n.926A>G
c.862A>G (p.Ser288Gly)
c.736A>G (p.Ser246Gly)
c.859A>G (p.Ser287Gly)
c.784A>G (p.Ser262Gly)
c.784+75A>G (n.784+75A>G)
c.646+75A>G (n.646+75A>G)
c.-27A>G (n.-27A>G)
c.739A>G (p.Ser247Gly)
c.721A>G (p.Ser241Gly)
c.664+75A>G (n.664+75A>G)
c.706+75A>G (n.706+75A>G)
c.*870A>G (n.*870A>G)
c.*736A>G (n.*736A>G)
c.670+1177A>G (n.670+1177A>G)
c.213A>G
c.*645A>G (n.*645A>G)
c.787+75A>G (n.787+75A>G)
c.459A>G
c.409+75A>G (n.409+75A>G)
c.412+75A>G (n.412+75A>G)
c.*798A>G (n.*798A>G)
c.4+30513A>G (n.4+30513A>G)
c.-43-20148A>G (n.-43-20148A>G)
c.-99+30602A>G (n.-99+30602A>G)
n.998A>G
n.1039A>G
 ClinVar dbSNP
17g.43094669T>GCA10600356BRCA1n.926A>C
c.862A>C (p.Ser288Arg)
c.736A>C (p.Ser246Arg)
c.859A>C (p.Ser287Arg)
c.784A>C (p.Ser262Arg)
c.784+75A>C (n.784+75A>C)
c.646+75A>C (n.646+75A>C)
c.-27A>C (n.-27A>C)
c.739A>C (p.Ser247Arg)
c.721A>C (p.Ser241Arg)
c.664+75A>C (n.664+75A>C)
c.706+75A>C (n.706+75A>C)
c.*870A>C (n.*870A>C)
c.*736A>C (n.*736A>C)
c.670+1177A>C (n.670+1177A>C)
c.213A>C
c.*645A>C (n.*645A>C)
c.787+75A>C (n.787+75A>C)
c.459A>C
c.409+75A>C (n.409+75A>C)
c.412+75A>C (n.412+75A>C)
c.*798A>C (n.*798A>C)
c.4+30513A>C (n.4+30513A>C)
c.-43-20148A>C (n.-43-20148A>C)
c.-99+30602A>C (n.-99+30602A>C)
n.998A>C
n.1039A>C
17g.43094669T=CA2260785172BRCA1n.926A=
c.862A= (p.Ser288=)
c.736A= (p.Ser246=)
c.859A= (p.Ser287=)
c.784A= (p.Ser262=)
c.784+75A= (n.784+75A=)
c.646+75A= (n.646+75A=)
c.-27A= (n.-27A=)
c.739A= (p.Ser247=)
c.721A= (p.Ser241=)
c.664+75A= (n.664+75A=)
c.706+75A= (n.706+75A=)
c.*870A= (n.*870A=)
c.*736A= (n.*736A=)
c.670+1177A= (n.670+1177A=)
c.213A=
c.*645A= (n.*645A=)
c.787+75A= (n.787+75A=)
c.459A=
c.409+75A= (n.409+75A=)
c.412+75A= (n.412+75A=)
c.*798A= (n.*798A=)
c.4+30513A= (n.4+30513A=)
c.-43-20148A= (n.-43-20148A=)
c.-99+30602A= (n.-99+30602A=)
n.998A=
n.1039A=
17g.43094670_43094671dupCA10589985BRCA1n.925_926dup
c.861_862dup (p.Ser288ThrfsTer11)
c.735_736dup (p.Ser246ThrfsTer11)
c.858_859dup (p.Ser287ThrfsTer11)
c.783_784dup (p.Ser262ThrfsTer11)
c.784+74_784+75dup (n.784+74_784+75dup)
c.646+74_646+75dup (n.646+74_646+75dup)
c.-28_-27dup (n.-28_-27dup)
c.738_739dup (p.Ser247ThrfsTer11)
c.720_721dup (p.Ser241ThrfsTer11)
c.664+74_664+75dup (n.664+74_664+75dup)
c.706+74_706+75dup (n.706+74_706+75dup)
c.*869_*870dup (n.*869_*870dup)
c.*735_*736dup (n.*735_*736dup)
c.670+1176_670+1177dup (n.670+1176_670+1177dup)
c.212_213dup
c.*644_*645dup (n.*644_*645dup)
c.787+74_787+75dup (n.787+74_787+75dup)
c.458_459dup
c.409+74_409+75dup (n.409+74_409+75dup)
c.412+74_412+75dup (n.412+74_412+75dup)
c.*797_*798dup (n.*797_*798dup)
c.4+30512_4+30513dup (n.4+30512_4+30513dup)
c.-43-20149_-43-20148dup (n.-43-20149_-43-20148dup)
c.-99+30601_-99+30602dup (n.-99+30601_-99+30602dup)
n.997_998dup
n.1038_1039dup
 ClinVar dbSNP
17g.43094670G>ACA500233354BRCA1n.925C>T
c.861C>T (p.Asn287=)
c.735C>T (p.Asn245=)
c.858C>T (p.Asn286=)
c.783C>T (p.Asn261=)
c.784+74C>T (n.784+74C>T)
c.646+74C>T (n.646+74C>T)
c.-28C>T (n.-28C>T)
c.738C>T (p.Asn246=)
c.720C>T (p.Asn240=)
c.664+74C>T (n.664+74C>T)
c.706+74C>T (n.706+74C>T)
c.*869C>T (n.*869C>T)
c.*735C>T (n.*735C>T)
c.670+1176C>T (n.670+1176C>T)
c.212C>T
c.*644C>T (n.*644C>T)
c.787+74C>T (n.787+74C>T)
c.458C>T
c.409+74C>T (n.409+74C>T)
c.412+74C>T (n.412+74C>T)
c.*797C>T (n.*797C>T)
c.4+30512C>T (n.4+30512C>T)
c.-43-20149C>T (n.-43-20149C>T)
c.-99+30601C>T (n.-99+30601C>T)
n.997C>T
n.1038C>T
 dbSNP
17g.43094670G>CCA10600357BRCA1n.925C>G
c.861C>G (p.Asn287Lys)
c.735C>G (p.Asn245Lys)
c.858C>G (p.Asn286Lys)
c.783C>G (p.Asn261Lys)
c.784+74C>G (n.784+74C>G)
c.646+74C>G (n.646+74C>G)
c.-28C>G (n.-28C>G)
c.738C>G (p.Asn246Lys)
c.720C>G (p.Asn240Lys)
c.664+74C>G (n.664+74C>G)
c.706+74C>G (n.706+74C>G)
c.*869C>G (n.*869C>G)
c.*735C>G (n.*735C>G)
c.670+1176C>G (n.670+1176C>G)
c.212C>G
c.*644C>G (n.*644C>G)
c.787+74C>G (n.787+74C>G)
c.458C>G
c.409+74C>G (n.409+74C>G)
c.412+74C>G (n.412+74C>G)
c.*797C>G (n.*797C>G)
c.4+30512C>G (n.4+30512C>G)
c.-43-20149C>G (n.-43-20149C>G)
c.-99+30601C>G (n.-99+30601C>G)
n.997C>G
n.1038C>G
 ClinVar dbSNP
17g.43094670G=CA2260785173BRCA1n.925C=
c.861C= (p.Asn287=)
c.735C= (p.Asn245=)
c.858C= (p.Asn286=)
c.783C= (p.Asn261=)
c.784+74C= (n.784+74C=)
c.646+74C= (n.646+74C=)
c.-28C= (n.-28C=)
c.738C= (p.Asn246=)
c.720C= (p.Asn240=)
c.664+74C= (n.664+74C=)
c.706+74C= (n.706+74C=)
c.*869C= (n.*869C=)
c.*735C= (n.*735C=)
c.670+1176C= (n.670+1176C=)
c.212C=
c.*644C= (n.*644C=)
c.787+74C= (n.787+74C=)
c.458C=
c.409+74C= (n.409+74C=)
c.412+74C= (n.412+74C=)
c.*797C= (n.*797C=)
c.4+30512C= (n.4+30512C=)
c.-43-20149C= (n.-43-20149C=)
c.-99+30601C= (n.-99+30601C=)
n.997C=
n.1038C=
17g.43094670G>TCA10600358BRCA1n.925C>A
c.861C>A (p.Asn287Lys)
c.735C>A (p.Asn245Lys)
c.858C>A (p.Asn286Lys)
c.783C>A (p.Asn261Lys)
c.784+74C>A (n.784+74C>A)
c.646+74C>A (n.646+74C>A)
c.-28C>A (n.-28C>A)
c.738C>A (p.Asn246Lys)
c.720C>A (p.Asn240Lys)
c.664+74C>A (n.664+74C>A)
c.706+74C>A (n.706+74C>A)
c.*869C>A (n.*869C>A)
c.*735C>A (n.*735C>A)
c.670+1176C>A (n.670+1176C>A)
c.212C>A
c.*644C>A (n.*644C>A)
c.787+74C>A (n.787+74C>A)
c.458C>A
c.409+74C>A (n.409+74C>A)
c.412+74C>A (n.412+74C>A)
c.*797C>A (n.*797C>A)
c.4+30512C>A (n.4+30512C>A)
c.-43-20149C>A (n.-43-20149C>A)
c.-99+30601C>A (n.-99+30601C>A)
n.997C>A
n.1038C>A
 ClinVar dbSNP

Number of alleles fetched