Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.43084852_43094147delCA645369660BRCA1c.1385_4186-2276del
c.1259_4060-2276del
c.1382_4183-2279del
c.1307_4108-2276del
c.784+598_874-2276del
c.646+598_736-2276del
c.497_3298-2276del
c.1262_4063-2276del
c.1244_4045-2276del
c.664+598_754-2279del
c.706+598_796-2276del
c.670+1700_760-2276del
c.*1168_*3969-2276del
c.787+598_877-2276del
c.409+598_499-2276del
c.412+598_502-2276del
c.5-30195_5-20900del (n.5-30195_5-20900del)
c.-43-19625_-43-10330del (n.-43-19625_-43-10330del)
c.-99+31125_-98-34661del (n.-99+31125_-98-34661del)
n.1521_4322-2276del
n.1562_4363-2276del
ClinVar
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.43091560_43092541dupCA1139665610BRCA1n.3054_4035dup
c.2990_3971dup (p.Met1324IlefsTer8)
c.2864_3845dup (p.Met1282IlefsTer8)
c.2987_3968dup (p.Met1323IlefsTer8)
c.2912_3893dup (p.Met1298IlefsTer8)
c.785-1509_785-528dup (n.785-1509_785-528dup)
c.647-1509_647-528dup (n.647-1509_647-528dup)
c.2102_3083dup (p.Met1028IlefsTer8)
c.2867_3848dup (p.Met1283IlefsTer8)
c.2849_3830dup (p.Met1277IlefsTer8)
c.665-1509_665-528dup (n.665-1509_665-528dup)
c.707-1509_707-528dup (n.707-1509_707-528dup)
c.671-1509_671-528dup (n.671-1509_671-528dup)
c.*2773_*3754dup (n.*2773_*3754dup)
c.788-1509_788-528dup (n.788-1509_788-528dup)
c.410-1509_410-528dup (n.410-1509_410-528dup)
c.413-1509_413-528dup (n.413-1509_413-528dup)
c.5-28590_5-27609dup (n.5-28590_5-27609dup)
c.-43-18020_-43-17039dup (n.-43-18020_-43-17039dup)
c.-99+32730_-99+33711dup (n.-99+32730_-99+33711dup)
n.3126_4107dup
n.3167_4148dup
ClinVar dbSNP
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.43091760_43091762delCA16042165BRCA1n.3836_3838del
c.3772_3774del (p.Glu1258del)
c.3646_3648del (p.Glu1216del)
c.3769_3771del (p.Glu1257del)
c.3694_3696del (p.Glu1232del)
c.785-727_785-725del (n.785-727_785-725del)
c.647-727_647-725del (n.647-727_647-725del)
c.2884_2886del (p.Glu962del)
c.3649_3651del (p.Glu1217del)
c.3631_3633del (p.Glu1211del)
c.665-727_665-725del (n.665-727_665-725del)
c.707-727_707-725del (n.707-727_707-725del)
c.93_95del
c.671-727_671-725del (n.671-727_671-725del)
c.*3555_*3557del (n.*3555_*3557del)
c.66_68del
c.788-727_788-725del (n.788-727_788-725del)
c.410-727_410-725del (n.410-727_410-725del)
c.413-727_413-725del (n.413-727_413-725del)
c.5-27808_5-27806del (n.5-27808_5-27806del)
c.-43-17238_-43-17236del (n.-43-17238_-43-17236del)
c.-99+33512_-99+33514del (n.-99+33512_-99+33514del)
n.3908_3910del
n.3949_3951del
dbSNP gnomAD v4
17g.43091762_43091763delCA002424BRCA1n.3834_3835del
c.3770_3771del (p.Glu1257GlyfsTer9)
c.3644_3645del (p.Glu1215GlyfsTer9)
c.3767_3768del (p.Glu1256GlyfsTer9)
c.3692_3693del (p.Glu1231GlyfsTer9)
c.785-729_785-728del (n.785-729_785-728del)
c.647-729_647-728del (n.647-729_647-728del)
c.2882_2883del (p.Glu961GlyfsTer9)
c.3647_3648del (p.Glu1216GlyfsTer9)
c.3629_3630del (p.Glu1210GlyfsTer9)
c.665-729_665-728del (n.665-729_665-728del)
c.707-729_707-728del (n.707-729_707-728del)
c.91_92del
c.671-729_671-728del (n.671-729_671-728del)
c.*3553_*3554del (n.*3553_*3554del)
c.64_65del
c.788-729_788-728del (n.788-729_788-728del)
c.410-729_410-728del (n.410-729_410-728del)
c.413-729_413-728del (n.413-729_413-728del)
c.5-27810_5-27809del (n.5-27810_5-27809del)
c.-43-17240_-43-17239del (n.-43-17240_-43-17239del)
c.-99+33510_-99+33511del (n.-99+33510_-99+33511del)
n.3906_3907del
n.3947_3948del
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43091761_43091763delCA2580612623BRCA1n.3832_3834del
c.3768_3770del (p.Glu1257del)
c.3642_3644del (p.Glu1215del)
c.3765_3767del (p.Glu1256del)
c.3690_3692del (p.Glu1231del)
c.785-731_785-729del (n.785-731_785-729del)
c.647-731_647-729del (n.647-731_647-729del)
c.2880_2882del (p.Glu961del)
c.3645_3647del (p.Glu1216del)
c.3627_3629del (p.Glu1210del)
c.665-731_665-729del (n.665-731_665-729del)
c.707-731_707-729del (n.707-731_707-729del)
c.89_91del
c.671-731_671-729del (n.671-731_671-729del)
c.*3551_*3553del (n.*3551_*3553del)
c.62_64del
c.788-731_788-729del (n.788-731_788-729del)
c.410-731_410-729del (n.410-731_410-729del)
c.413-731_413-729del (n.413-731_413-729del)
c.5-27812_5-27810del (n.5-27812_5-27810del)
c.-43-17242_-43-17240del (n.-43-17242_-43-17240del)
c.-99+33508_-99+33510del (n.-99+33508_-99+33510del)
n.3904_3906del
n.3945_3947del
17g.43091761_43091780delinsTCTGTGTTCTTAGACAGACACA2260782248BRCA1n.3815_3834delinsTGTCTGTCTAAGAACACAGA
c.3751_3770delinsTGTCTGTCTAAGAACACAGA (p.Cys1251=)
c.3625_3644delinsTGTCTGTCTAAGAACACAGA (p.Cys1209=)
c.3748_3767delinsTGTCTGTCTAAGAACACAGA (p.Cys1250=)
c.3673_3692delinsTGTCTGTCTAAGAACACAGA (p.Cys1225=)
c.785-748_785-729delinsTGTCTGTCTAAGAACACAGA (n.785-748_785-729delinsTGTCTGTCTAAGAACACAGA)
c.647-748_647-729delinsTGTCTGTCTAAGAACACAGA (n.647-748_647-729delinsTGTCTGTCTAAGAACACAGA)
c.2863_2882delinsTGTCTGTCTAAGAACACAGA (p.Cys955=)
c.3628_3647delinsTGTCTGTCTAAGAACACAGA (p.Cys1210=)
c.3610_3629delinsTGTCTGTCTAAGAACACAGA (p.Cys1204=)
c.665-748_665-729delinsTGTCTGTCTAAGAACACAGA (n.665-748_665-729delinsTGTCTGTCTAAGAACACAGA)
c.707-748_707-729delinsTGTCTGTCTAAGAACACAGA (n.707-748_707-729delinsTGTCTGTCTAAGAACACAGA)
c.72_91delinsTGTCTGTCTAAGAACACAGA
c.671-748_671-729delinsTGTCTGTCTAAGAACACAGA (n.671-748_671-729delinsTGTCTGTCTAAGAACACAGA)
c.*3534_*3553delinsTGTCTGTCTAAGAACACAGA (n.*3534_*3553delinsTGTCTGTCTAAGAACACAGA)
c.45_64delinsTGTCTGTCTAAGAACACAGA
c.788-748_788-729delinsTGTCTGTCTAAGAACACAGA (n.788-748_788-729delinsTGTCTGTCTAAGAACACAGA)
c.410-748_410-729delinsTGTCTGTCTAAGAACACAGA (n.410-748_410-729delinsTGTCTGTCTAAGAACACAGA)
c.413-748_413-729delinsTGTCTGTCTAAGAACACAGA (n.413-748_413-729delinsTGTCTGTCTAAGAACACAGA)
c.5-27829_5-27810delinsTGTCTGTCTAAGAACACAGA (n.5-27829_5-27810delinsTGTCTGTCTAAGAACACAGA)
c.-43-17259_-43-17240delinsTGTCTGTCTAAGAACACAGA (n.-43-17259_-43-17240delinsTGTCTGTCTAAGAACACAGA)
c.-99+33491_-99+33510delinsTGTCTGTCTAAGAACACAGA (n.-99+33491_-99+33510delinsTGTCTGTCTAAGAACACAGA)
n.3887_3906delinsTGTCTGTCTAAGAACACAGA
n.3928_3947delinsTGTCTGTCTAAGAACACAGA
17g.43091762C>ACA10594433BRCA1n.3833G>T
c.3769G>T (p.Glu1257Ter)
c.3643G>T (p.Glu1215Ter)
c.3766G>T (p.Glu1256Ter)
c.3691G>T (p.Glu1231Ter)
c.785-730G>T (n.785-730G>T)
c.647-730G>T (n.647-730G>T)
c.2881G>T (p.Glu961Ter)
c.3646G>T (p.Glu1216Ter)
c.3628G>T (p.Glu1210Ter)
c.665-730G>T (n.665-730G>T)
c.707-730G>T (n.707-730G>T)
c.90G>T
c.671-730G>T (n.671-730G>T)
c.*3552G>T (n.*3552G>T)
c.63G>T
c.788-730G>T (n.788-730G>T)
c.410-730G>T (n.410-730G>T)
c.413-730G>T (n.413-730G>T)
c.5-27811G>T (n.5-27811G>T)
c.-43-17241G>T (n.-43-17241G>T)
c.-99+33509G>T (n.-99+33509G>T)
n.3905G>T
n.3946G>T
dbSNP
17g.43091762C=CA2260782250BRCA1n.3833G=
c.3769G= (p.Glu1257=)
c.3643G= (p.Glu1215=)
c.3766G= (p.Glu1256=)
c.3691G= (p.Glu1231=)
c.785-730G= (n.785-730G=)
c.647-730G= (n.647-730G=)
c.2881G= (p.Glu961=)
c.3646G= (p.Glu1216=)
c.3628G= (p.Glu1210=)
c.665-730G= (n.665-730G=)
c.707-730G= (n.707-730G=)
c.90G=
c.671-730G= (n.671-730G=)
c.*3552G= (n.*3552G=)
c.63G=
c.788-730G= (n.788-730G=)
c.410-730G= (n.410-730G=)
c.413-730G= (n.413-730G=)
c.5-27811G= (n.5-27811G=)
c.-43-17241G= (n.-43-17241G=)
c.-99+33509G= (n.-99+33509G=)
n.3905G=
n.3946G=
17g.43091762C>GCA10594434BRCA1n.3833G>C
c.3769G>C (p.Glu1257Gln)
c.3643G>C (p.Glu1215Gln)
c.3766G>C (p.Glu1256Gln)
c.3691G>C (p.Glu1231Gln)
c.785-730G>C (n.785-730G>C)
c.647-730G>C (n.647-730G>C)
c.2881G>C (p.Glu961Gln)
c.3646G>C (p.Glu1216Gln)
c.3628G>C (p.Glu1210Gln)
c.665-730G>C (n.665-730G>C)
c.707-730G>C (n.707-730G>C)
c.90G>C
c.671-730G>C (n.671-730G>C)
c.*3552G>C (n.*3552G>C)
c.63G>C
c.788-730G>C (n.788-730G>C)
c.410-730G>C (n.410-730G>C)
c.413-730G>C (n.413-730G>C)
c.5-27811G>C (n.5-27811G>C)
c.-43-17241G>C (n.-43-17241G>C)
c.-99+33509G>C (n.-99+33509G>C)
n.3905G>C
n.3946G>C
dbSNP
17g.43091762C>TCA10594435BRCA1n.3833G>A
c.3769G>A (p.Glu1257Lys)
c.3643G>A (p.Glu1215Lys)
c.3766G>A (p.Glu1256Lys)
c.3691G>A (p.Glu1231Lys)
c.785-730G>A (n.785-730G>A)
c.647-730G>A (n.647-730G>A)
c.2881G>A (p.Glu961Lys)
c.3646G>A (p.Glu1216Lys)
c.3628G>A (p.Glu1210Lys)
c.665-730G>A (n.665-730G>A)
c.707-730G>A (n.707-730G>A)
c.90G>A
c.671-730G>A (n.671-730G>A)
c.*3552G>A (n.*3552G>A)
c.63G>A
c.788-730G>A (n.788-730G>A)
c.410-730G>A (n.410-730G>A)
c.413-730G>A (n.413-730G>A)
c.5-27811G>A (n.5-27811G>A)
c.-43-17241G>A (n.-43-17241G>A)
c.-99+33509G>A (n.-99+33509G>A)
n.3905G>A
n.3946G>A
ClinVar dbSNP gnomAD v4
17g.43091762_43091764delinsCTGCA2260782249BRCA1n.3831_3833delinsCAG
c.3767_3769delinsCAG (p.Thr1256=)
c.3641_3643delinsCAG (p.Thr1214=)
c.3764_3766delinsCAG (p.Thr1255=)
c.3689_3691delinsCAG (p.Thr1230=)
c.785-732_785-730delinsCAG (n.785-732_785-730delinsCAG)
c.647-732_647-730delinsCAG (n.647-732_647-730delinsCAG)
c.2879_2881delinsCAG (p.Thr960=)
c.3644_3646delinsCAG (p.Thr1215=)
c.3626_3628delinsCAG (p.Thr1209=)
c.665-732_665-730delinsCAG (n.665-732_665-730delinsCAG)
c.707-732_707-730delinsCAG (n.707-732_707-730delinsCAG)
c.88_90delinsCAG
c.671-732_671-730delinsCAG (n.671-732_671-730delinsCAG)
c.*3550_*3552delinsCAG (n.*3550_*3552delinsCAG)
c.61_63delinsCAG
c.788-732_788-730delinsCAG (n.788-732_788-730delinsCAG)
c.410-732_410-730delinsCAG (n.410-732_410-730delinsCAG)
c.413-732_413-730delinsCAG (n.413-732_413-730delinsCAG)
c.5-27813_5-27811delinsCAG (n.5-27813_5-27811delinsCAG)
c.-43-17243_-43-17241delinsCAG (n.-43-17243_-43-17241delinsCAG)
c.-99+33507_-99+33509delinsCAG (n.-99+33507_-99+33509delinsCAG)
n.3903_3905delinsCAG
n.3944_3946delinsCAG
17g.43091764_43091782delCA913190411BRCA1n.3815_3833del
c.3751_3769del (p.Cys1251ArgfsTer7)
c.3625_3643del (p.Cys1209ArgfsTer7)
c.3748_3766del (p.Cys1250ArgfsTer7)
c.3673_3691del (p.Cys1225ArgfsTer7)
c.785-748_785-730del (n.785-748_785-730del)
c.647-748_647-730del (n.647-748_647-730del)
c.2863_2881del (p.Cys955ArgfsTer7)
c.3628_3646del (p.Cys1210ArgfsTer7)
c.3610_3628del (p.Cys1204ArgfsTer7)
c.665-748_665-730del (n.665-748_665-730del)
c.707-748_707-730del (n.707-748_707-730del)
c.72_90del
c.671-748_671-730del (n.671-748_671-730del)
c.*3534_*3552del (n.*3534_*3552del)
c.45_63del
c.788-748_788-730del (n.788-748_788-730del)
c.410-748_410-730del (n.410-748_410-730del)
c.413-748_413-730del (n.413-748_413-730del)
c.5-27829_5-27811del (n.5-27829_5-27811del)
c.-43-17259_-43-17241del (n.-43-17259_-43-17241del)
c.-99+33491_-99+33509del (n.-99+33491_-99+33509del)
n.3887_3905del
n.3928_3946del
ClinVar dbSNP
17g.43091763T>ACA500232214BRCA1n.3832A>T
c.3768A>T (p.Thr1256=)
c.3642A>T (p.Thr1214=)
c.3765A>T (p.Thr1255=)
c.3690A>T (p.Thr1230=)
c.785-731A>T (n.785-731A>T)
c.647-731A>T (n.647-731A>T)
c.2880A>T (p.Thr960=)
c.3645A>T (p.Thr1215=)
c.3627A>T (p.Thr1209=)
c.665-731A>T (n.665-731A>T)
c.707-731A>T (n.707-731A>T)
c.89A>T
c.671-731A>T (n.671-731A>T)
c.*3551A>T (n.*3551A>T)
c.62A>T
c.788-731A>T (n.788-731A>T)
c.410-731A>T (n.410-731A>T)
c.413-731A>T (n.413-731A>T)
c.5-27812A>T (n.5-27812A>T)
c.-43-17242A>T (n.-43-17242A>T)
c.-99+33508A>T (n.-99+33508A>T)
n.3904A>T
n.3945A>T
dbSNP
17g.43091763T>CCA002423BRCA1n.3832A>G
c.3768A>G (p.Thr1256=)
c.3642A>G (p.Thr1214=)
c.3765A>G (p.Thr1255=)
c.3690A>G (p.Thr1230=)
c.785-731A>G (n.785-731A>G)
c.647-731A>G (n.647-731A>G)
c.2880A>G (p.Thr960=)
c.3645A>G (p.Thr1215=)
c.3627A>G (p.Thr1209=)
c.665-731A>G (n.665-731A>G)
c.707-731A>G (n.707-731A>G)
c.89A>G
c.671-731A>G (n.671-731A>G)
c.*3551A>G (n.*3551A>G)
c.62A>G
c.788-731A>G (n.788-731A>G)
c.410-731A>G (n.410-731A>G)
c.413-731A>G (n.413-731A>G)
c.5-27812A>G (n.5-27812A>G)
c.-43-17242A>G (n.-43-17242A>G)
c.-99+33508A>G (n.-99+33508A>G)
n.3904A>G
n.3945A>G
ClinVar dbSNP gnomAD v4
17g.43091763T>GCA500232215BRCA1n.3832A>C
c.3768A>C (p.Thr1256=)
c.3642A>C (p.Thr1214=)
c.3765A>C (p.Thr1255=)
c.3690A>C (p.Thr1230=)
c.785-731A>C (n.785-731A>C)
c.647-731A>C (n.647-731A>C)
c.2880A>C (p.Thr960=)
c.3645A>C (p.Thr1215=)
c.3627A>C (p.Thr1209=)
c.665-731A>C (n.665-731A>C)
c.707-731A>C (n.707-731A>C)
c.89A>C
c.671-731A>C (n.671-731A>C)
c.*3551A>C (n.*3551A>C)
c.62A>C
c.788-731A>C (n.788-731A>C)
c.410-731A>C (n.410-731A>C)
c.413-731A>C (n.413-731A>C)
c.5-27812A>C (n.5-27812A>C)
c.-43-17242A>C (n.-43-17242A>C)
c.-99+33508A>C (n.-99+33508A>C)
n.3904A>C
n.3945A>C
17g.43091763T=CA2260782251BRCA1n.3832A=
c.3768A= (p.Thr1256=)
c.3642A= (p.Thr1214=)
c.3765A= (p.Thr1255=)
c.3690A= (p.Thr1230=)
c.785-731A= (n.785-731A=)
c.647-731A= (n.647-731A=)
c.2880A= (p.Thr960=)
c.3645A= (p.Thr1215=)
c.3627A= (p.Thr1209=)
c.665-731A= (n.665-731A=)
c.707-731A= (n.707-731A=)
c.89A=
c.671-731A= (n.671-731A=)
c.*3551A= (n.*3551A=)
c.62A=
c.788-731A= (n.788-731A=)
c.410-731A= (n.410-731A=)
c.413-731A= (n.413-731A=)
c.5-27812A= (n.5-27812A=)
c.-43-17242A= (n.-43-17242A=)
c.-99+33508A= (n.-99+33508A=)
n.3904A=
n.3945A=
17g.43091763dupCA1139770798BRCA1n.3832dup
c.3768dup (p.Glu1257ArgfsTer10)
c.3642dup (p.Glu1215ArgfsTer10)
c.3765dup (p.Glu1256ArgfsTer10)
c.3690dup (p.Glu1231ArgfsTer10)
c.785-731dup (n.785-731dup)
c.647-731dup (n.647-731dup)
c.2880dup (p.Glu961ArgfsTer10)
c.3645dup (p.Glu1216ArgfsTer10)
c.3627dup (p.Glu1210ArgfsTer10)
c.665-731dup (n.665-731dup)
c.707-731dup (n.707-731dup)
c.89dup
c.671-731dup (n.671-731dup)
c.*3551dup (n.*3551dup)
c.62dup
c.788-731dup (n.788-731dup)
c.410-731dup (n.410-731dup)
c.413-731dup (n.413-731dup)
c.5-27812dup (n.5-27812dup)
c.-43-17242dup (n.-43-17242dup)
c.-99+33508dup (n.-99+33508dup)
n.3904dup
n.3945dup
17g.43091766_43091767delCA002422BRCA1n.3831_3832del
c.3767_3768del (p.Thr1256ArgfsTer10)
c.3641_3642del (p.Thr1214ArgfsTer10)
c.3764_3765del (p.Thr1255ArgfsTer10)
c.3689_3690del (p.Thr1230ArgfsTer10)
c.785-732_785-731del (n.785-732_785-731del)
c.647-732_647-731del (n.647-732_647-731del)
c.2879_2880del (p.Thr960ArgfsTer10)
c.3644_3645del (p.Thr1215ArgfsTer10)
c.3626_3627del (p.Thr1209ArgfsTer10)
c.665-732_665-731del (n.665-732_665-731del)
c.707-732_707-731del (n.707-732_707-731del)
c.88_89del
c.671-732_671-731del (n.671-732_671-731del)
c.*3550_*3551del (n.*3550_*3551del)
c.61_62del
c.788-732_788-731del (n.788-732_788-731del)
c.410-732_410-731del (n.410-732_410-731del)
c.413-732_413-731del (n.413-732_413-731del)
c.5-27813_5-27812del (n.5-27813_5-27812del)
c.-43-17243_-43-17242del (n.-43-17243_-43-17242del)
c.-99+33507_-99+33508del (n.-99+33507_-99+33508del)
n.3903_3904del
n.3944_3945del
dbSNP gnomAD v4
17g.43091764G>ACA10594436BRCA1n.3831C>T
c.3767C>T (p.Thr1256Ile)
c.3641C>T (p.Thr1214Ile)
c.3764C>T (p.Thr1255Ile)
c.3689C>T (p.Thr1230Ile)
c.785-732C>T (n.785-732C>T)
c.647-732C>T (n.647-732C>T)
c.2879C>T (p.Thr960Ile)
c.3644C>T (p.Thr1215Ile)
c.3626C>T (p.Thr1209Ile)
c.665-732C>T (n.665-732C>T)
c.707-732C>T (n.707-732C>T)
c.88C>T
c.671-732C>T (n.671-732C>T)
c.*3550C>T (n.*3550C>T)
c.61C>T
c.788-732C>T (n.788-732C>T)
c.410-732C>T (n.410-732C>T)
c.413-732C>T (n.413-732C>T)
c.5-27813C>T (n.5-27813C>T)
c.-43-17243C>T (n.-43-17243C>T)
c.-99+33507C>T (n.-99+33507C>T)
n.3903C>T
n.3944C>T
ClinVar dbSNP gnomAD v4
17g.43091764G>CCA10594437BRCA1n.3831C>G
c.3767C>G (p.Thr1256Arg)
c.3641C>G (p.Thr1214Arg)
c.3764C>G (p.Thr1255Arg)
c.3689C>G (p.Thr1230Arg)
c.785-732C>G (n.785-732C>G)
c.647-732C>G (n.647-732C>G)
c.2879C>G (p.Thr960Arg)
c.3644C>G (p.Thr1215Arg)
c.3626C>G (p.Thr1209Arg)
c.665-732C>G (n.665-732C>G)
c.707-732C>G (n.707-732C>G)
c.88C>G
c.671-732C>G (n.671-732C>G)
c.*3550C>G (n.*3550C>G)
c.61C>G
c.788-732C>G (n.788-732C>G)
c.410-732C>G (n.410-732C>G)
c.413-732C>G (n.413-732C>G)
c.5-27813C>G (n.5-27813C>G)
c.-43-17243C>G (n.-43-17243C>G)
c.-99+33507C>G (n.-99+33507C>G)
n.3903C>G
n.3944C>G
dbSNP
17g.43091764G=CA2260782252BRCA1n.3831C=
c.3767C= (p.Thr1256=)
c.3641C= (p.Thr1214=)
c.3764C= (p.Thr1255=)
c.3689C= (p.Thr1230=)
c.785-732C= (n.785-732C=)
c.647-732C= (n.647-732C=)
c.2879C= (p.Thr960=)
c.3644C= (p.Thr1215=)
c.3626C= (p.Thr1209=)
c.665-732C= (n.665-732C=)
c.707-732C= (n.707-732C=)
c.88C=
c.671-732C= (n.671-732C=)
c.*3550C= (n.*3550C=)
c.61C=
c.788-732C= (n.788-732C=)
c.410-732C= (n.410-732C=)
c.413-732C= (n.413-732C=)
c.5-27813C= (n.5-27813C=)
c.-43-17243C= (n.-43-17243C=)
c.-99+33507C= (n.-99+33507C=)
n.3903C=
n.3944C=
17g.43091764G>TCA10594438BRCA1n.3831C>A
c.3767C>A (p.Thr1256Lys)
c.3641C>A (p.Thr1214Lys)
c.3764C>A (p.Thr1255Lys)
c.3689C>A (p.Thr1230Lys)
c.785-732C>A (n.785-732C>A)
c.647-732C>A (n.647-732C>A)
c.2879C>A (p.Thr960Lys)
c.3644C>A (p.Thr1215Lys)
c.3626C>A (p.Thr1209Lys)
c.665-732C>A (n.665-732C>A)
c.707-732C>A (n.707-732C>A)
c.88C>A
c.671-732C>A (n.671-732C>A)
c.*3550C>A (n.*3550C>A)
c.61C>A
c.788-732C>A (n.788-732C>A)
c.410-732C>A (n.410-732C>A)
c.413-732C>A (n.413-732C>A)
c.5-27813C>A (n.5-27813C>A)
c.-43-17243C>A (n.-43-17243C>A)
c.-99+33507C>A (n.-99+33507C>A)
n.3903C>A
n.3944C>A
gnomAD v4
17g.43091765delCA2580612624BRCA1n.3830del
c.3766del (p.Thr1256GlnfsTer8)
c.3640del (p.Thr1214GlnfsTer8)
c.3763del (p.Thr1255GlnfsTer8)
c.3688del (p.Thr1230GlnfsTer8)
c.785-733del (n.785-733del)
c.647-733del (n.647-733del)
c.2878del (p.Thr960GlnfsTer8)
c.3643del (p.Thr1215GlnfsTer8)
c.3625del (p.Thr1209GlnfsTer8)
c.665-733del (n.665-733del)
c.707-733del (n.707-733del)
c.87del
c.671-733del (n.671-733del)
c.*3549del (n.*3549del)
c.60del
c.788-733del (n.788-733del)
c.410-733del (n.410-733del)
c.413-733del (n.413-733del)
c.5-27814del (n.5-27814del)
c.-43-17244del (n.-43-17244del)
c.-99+33506del (n.-99+33506del)
n.3902del
n.3943del
17g.43091765T>ACA10594439BRCA1n.3830A>T
c.3766A>T (p.Thr1256Ser)
c.3640A>T (p.Thr1214Ser)
c.3763A>T (p.Thr1255Ser)
c.3688A>T (p.Thr1230Ser)
c.785-733A>T (n.785-733A>T)
c.647-733A>T (n.647-733A>T)
c.2878A>T (p.Thr960Ser)
c.3643A>T (p.Thr1215Ser)
c.3625A>T (p.Thr1209Ser)
c.665-733A>T (n.665-733A>T)
c.707-733A>T (n.707-733A>T)
c.87A>T
c.671-733A>T (n.671-733A>T)
c.*3549A>T (n.*3549A>T)
c.60A>T
c.788-733A>T (n.788-733A>T)
c.410-733A>T (n.410-733A>T)
c.413-733A>T (n.413-733A>T)
c.5-27814A>T (n.5-27814A>T)
c.-43-17244A>T (n.-43-17244A>T)
c.-99+33506A>T (n.-99+33506A>T)
n.3902A>T
n.3943A>T
dbSNP
17g.43091765T>CCA10594440BRCA1n.3830A>G
c.3766A>G (p.Thr1256Ala)
c.3640A>G (p.Thr1214Ala)
c.3763A>G (p.Thr1255Ala)
c.3688A>G (p.Thr1230Ala)
c.785-733A>G (n.785-733A>G)
c.647-733A>G (n.647-733A>G)
c.2878A>G (p.Thr960Ala)
c.3643A>G (p.Thr1215Ala)
c.3625A>G (p.Thr1209Ala)
c.665-733A>G (n.665-733A>G)
c.707-733A>G (n.707-733A>G)
c.87A>G
c.671-733A>G (n.671-733A>G)
c.*3549A>G (n.*3549A>G)
c.60A>G
c.788-733A>G (n.788-733A>G)
c.410-733A>G (n.410-733A>G)
c.413-733A>G (n.413-733A>G)
c.5-27814A>G (n.5-27814A>G)
c.-43-17244A>G (n.-43-17244A>G)
c.-99+33506A>G (n.-99+33506A>G)
n.3902A>G
n.3943A>G
dbSNP gnomAD v4
17g.43091765T>GCA10594441BRCA1n.3830A>C
c.3766A>C (p.Thr1256Pro)
c.3640A>C (p.Thr1214Pro)
c.3763A>C (p.Thr1255Pro)
c.3688A>C (p.Thr1230Pro)
c.785-733A>C (n.785-733A>C)
c.647-733A>C (n.647-733A>C)
c.2878A>C (p.Thr960Pro)
c.3643A>C (p.Thr1215Pro)
c.3625A>C (p.Thr1209Pro)
c.665-733A>C (n.665-733A>C)
c.707-733A>C (n.707-733A>C)
c.87A>C
c.671-733A>C (n.671-733A>C)
c.*3549A>C (n.*3549A>C)
c.60A>C
c.788-733A>C (n.788-733A>C)
c.410-733A>C (n.410-733A>C)
c.413-733A>C (n.413-733A>C)
c.5-27814A>C (n.5-27814A>C)
c.-43-17244A>C (n.-43-17244A>C)
c.-99+33506A>C (n.-99+33506A>C)
n.3902A>C
n.3943A>C
dbSNP
17g.43091765T=CA2260782254BRCA1n.3830A=
c.3766A= (p.Thr1256=)
c.3640A= (p.Thr1214=)
c.3763A= (p.Thr1255=)
c.3688A= (p.Thr1230=)
c.785-733A= (n.785-733A=)
c.647-733A= (n.647-733A=)
c.2878A= (p.Thr960=)
c.3643A= (p.Thr1215=)
c.3625A= (p.Thr1209=)
c.665-733A= (n.665-733A=)
c.707-733A= (n.707-733A=)
c.87A=
c.671-733A= (n.671-733A=)
c.*3549A= (n.*3549A=)
c.60A=
c.788-733A= (n.788-733A=)
c.410-733A= (n.410-733A=)
c.413-733A= (n.413-733A=)
c.5-27814A= (n.5-27814A=)
c.-43-17244A= (n.-43-17244A=)
c.-99+33506A= (n.-99+33506A=)
n.3902A=
n.3943A=
17g.43091765dupCA002421BRCA1n.3830dup
c.3766dup (p.Thr1256AsnfsTer11)
c.3640dup (p.Thr1214AsnfsTer11)
c.3763dup (p.Thr1255AsnfsTer11)
c.3688dup (p.Thr1230AsnfsTer11)
c.785-733dup (n.785-733dup)
c.647-733dup (n.647-733dup)
c.2878dup (p.Thr960AsnfsTer11)
c.3643dup (p.Thr1215AsnfsTer11)
c.3625dup (p.Thr1209AsnfsTer11)
c.665-733dup (n.665-733dup)
c.707-733dup (n.707-733dup)
c.87dup
c.671-733dup (n.671-733dup)
c.*3549dup (n.*3549dup)
c.60dup
c.788-733dup (n.788-733dup)
c.410-733dup (n.410-733dup)
c.413-733dup (n.413-733dup)
c.5-27814dup (n.5-27814dup)
c.-43-17244dup (n.-43-17244dup)
c.-99+33506dup (n.-99+33506dup)
n.3902dup
n.3943dup
ClinVar dbSNP
17g.43091765_43091766delinsTGCA2260782253BRCA1n.3829_3830delinsCA
c.3765_3766delinsCA (p.Asn1255=)
c.3639_3640delinsCA (p.Asn1213=)
c.3762_3763delinsCA (p.Asn1254=)
c.3687_3688delinsCA (p.Asn1229=)
c.785-734_785-733delinsCA (n.785-734_785-733delinsCA)
c.647-734_647-733delinsCA (n.647-734_647-733delinsCA)
c.2877_2878delinsCA (p.Asn959=)
c.3642_3643delinsCA (p.Asn1214=)
c.3624_3625delinsCA (p.Asn1208=)
c.665-734_665-733delinsCA (n.665-734_665-733delinsCA)
c.707-734_707-733delinsCA (n.707-734_707-733delinsCA)
c.86_87delinsCA
c.671-734_671-733delinsCA (n.671-734_671-733delinsCA)
c.*3548_*3549delinsCA (n.*3548_*3549delinsCA)
c.59_60delinsCA
c.788-734_788-733delinsCA (n.788-734_788-733delinsCA)
c.410-734_410-733delinsCA (n.410-734_410-733delinsCA)
c.413-734_413-733delinsCA (n.413-734_413-733delinsCA)
c.5-27815_5-27814delinsCA (n.5-27815_5-27814delinsCA)
c.-43-17245_-43-17244delinsCA (n.-43-17245_-43-17244delinsCA)
c.-99+33505_-99+33506delinsCA (n.-99+33505_-99+33506delinsCA)
n.3901_3902delinsCA
n.3942_3943delinsCA
17g.43091766_43091770delCA645578315BRCA1n.3826_3830del
c.3762_3766del (p.Lys1254AsnfsTer11)
c.3636_3640del (p.Lys1212AsnfsTer11)
c.3759_3763del (p.Lys1253AsnfsTer11)
c.3684_3688del (p.Lys1228AsnfsTer11)
c.785-737_785-733del (n.785-737_785-733del)
c.647-737_647-733del (n.647-737_647-733del)
c.2874_2878del (p.Lys958AsnfsTer11)
c.3639_3643del (p.Lys1213AsnfsTer11)
c.3621_3625del (p.Lys1207AsnfsTer11)
c.665-737_665-733del (n.665-737_665-733del)
c.707-737_707-733del (n.707-737_707-733del)
c.83_87del
c.671-737_671-733del (n.671-737_671-733del)
c.*3545_*3549del (n.*3545_*3549del)
c.56_60del
c.788-737_788-733del (n.788-737_788-733del)
c.410-737_410-733del (n.410-737_410-733del)
c.413-737_413-733del (n.413-737_413-733del)
c.5-27818_5-27814del (n.5-27818_5-27814del)
c.-43-17248_-43-17244del (n.-43-17248_-43-17244del)
c.-99+33502_-99+33506del (n.-99+33502_-99+33506del)
n.3898_3902del
n.3939_3943del
COSMIC
17g.43091766delCA10589724BRCA1n.3829del
c.3765del (p.Asn1255LysfsTer9)
c.3639del (p.Asn1213LysfsTer9)
c.3762del (p.Asn1254LysfsTer9)
c.3687del (p.Asn1229LysfsTer9)
c.785-734del (n.785-734del)
c.647-734del (n.647-734del)
c.2877del (p.Asn959LysfsTer9)
c.3642del (p.Asn1214LysfsTer9)
c.3624del (p.Asn1208LysfsTer9)
c.665-734del (n.665-734del)
c.707-734del (n.707-734del)
c.86del
c.671-734del (n.671-734del)
c.*3548del (n.*3548del)
c.59del
c.788-734del (n.788-734del)
c.410-734del (n.410-734del)
c.413-734del (n.413-734del)
c.5-27815del (n.5-27815del)
c.-43-17245del (n.-43-17245del)
c.-99+33505del (n.-99+33505del)
n.3901del
n.3942del
ClinVar dbSNP
17g.43091766G>ACA500232216BRCA1n.3829C>T
c.3765C>T (p.Asn1255=)
c.3639C>T (p.Asn1213=)
c.3762C>T (p.Asn1254=)
c.3687C>T (p.Asn1229=)
c.785-734C>T (n.785-734C>T)
c.647-734C>T (n.647-734C>T)
c.2877C>T (p.Asn959=)
c.3642C>T (p.Asn1214=)
c.3624C>T (p.Asn1208=)
c.665-734C>T (n.665-734C>T)
c.707-734C>T (n.707-734C>T)
c.86C>T
c.671-734C>T (n.671-734C>T)
c.*3548C>T (n.*3548C>T)
c.59C>T
c.788-734C>T (n.788-734C>T)
c.410-734C>T (n.410-734C>T)
c.413-734C>T (n.413-734C>T)
c.5-27815C>T (n.5-27815C>T)
c.-43-17245C>T (n.-43-17245C>T)
c.-99+33505C>T (n.-99+33505C>T)
n.3901C>T
n.3942C>T
dbSNP
17g.43091766G>CCA10594442BRCA1n.3829C>G
c.3765C>G (p.Asn1255Lys)
c.3639C>G (p.Asn1213Lys)
c.3762C>G (p.Asn1254Lys)
c.3687C>G (p.Asn1229Lys)
c.785-734C>G (n.785-734C>G)
c.647-734C>G (n.647-734C>G)
c.2877C>G (p.Asn959Lys)
c.3642C>G (p.Asn1214Lys)
c.3624C>G (p.Asn1208Lys)
c.665-734C>G (n.665-734C>G)
c.707-734C>G (n.707-734C>G)
c.86C>G
c.671-734C>G (n.671-734C>G)
c.*3548C>G (n.*3548C>G)
c.59C>G
c.788-734C>G (n.788-734C>G)
c.410-734C>G (n.410-734C>G)
c.413-734C>G (n.413-734C>G)
c.5-27815C>G (n.5-27815C>G)
c.-43-17245C>G (n.-43-17245C>G)
c.-99+33505C>G (n.-99+33505C>G)
n.3901C>G
n.3942C>G
dbSNP gnomAD v4
17g.43091766G=CA2260782255BRCA1n.3829C=
c.3765C= (p.Asn1255=)
c.3639C= (p.Asn1213=)
c.3762C= (p.Asn1254=)
c.3687C= (p.Asn1229=)
c.785-734C= (n.785-734C=)
c.647-734C= (n.647-734C=)
c.2877C= (p.Asn959=)
c.3642C= (p.Asn1214=)
c.3624C= (p.Asn1208=)
c.665-734C= (n.665-734C=)
c.707-734C= (n.707-734C=)
c.86C=
c.671-734C= (n.671-734C=)
c.*3548C= (n.*3548C=)
c.59C=
c.788-734C= (n.788-734C=)
c.410-734C= (n.410-734C=)
c.413-734C= (n.413-734C=)
c.5-27815C= (n.5-27815C=)
c.-43-17245C= (n.-43-17245C=)
c.-99+33505C= (n.-99+33505C=)
n.3901C=
n.3942C=
17g.43091766G>TCA10594443BRCA1n.3829C>A
c.3765C>A (p.Asn1255Lys)
c.3639C>A (p.Asn1213Lys)
c.3762C>A (p.Asn1254Lys)
c.3687C>A (p.Asn1229Lys)
c.785-734C>A (n.785-734C>A)
c.647-734C>A (n.647-734C>A)
c.2877C>A (p.Asn959Lys)
c.3642C>A (p.Asn1214Lys)
c.3624C>A (p.Asn1208Lys)
c.665-734C>A (n.665-734C>A)
c.707-734C>A (n.707-734C>A)
c.86C>A
c.671-734C>A (n.671-734C>A)
c.*3548C>A (n.*3548C>A)
c.59C>A
c.788-734C>A (n.788-734C>A)
c.410-734C>A (n.410-734C>A)
c.413-734C>A (n.413-734C>A)
c.5-27815C>A (n.5-27815C>A)
c.-43-17245C>A (n.-43-17245C>A)
c.-99+33505C>A (n.-99+33505C>A)
n.3901C>A
n.3942C>A
dbSNP
17g.43091766_43091768delinsGTTCA2260782257BRCA1n.3827_3829delinsAAC
c.3763_3765delinsAAC (p.Asn1255=)
c.3637_3639delinsAAC (p.Asn1213=)
c.3760_3762delinsAAC (p.Asn1254=)
c.3685_3687delinsAAC (p.Asn1229=)
c.785-736_785-734delinsAAC (n.785-736_785-734delinsAAC)
c.647-736_647-734delinsAAC (n.647-736_647-734delinsAAC)
c.2875_2877delinsAAC (p.Asn959=)
c.3640_3642delinsAAC (p.Asn1214=)
c.3622_3624delinsAAC (p.Asn1208=)
c.665-736_665-734delinsAAC (n.665-736_665-734delinsAAC)
c.707-736_707-734delinsAAC (n.707-736_707-734delinsAAC)
c.84_86delinsAAC
c.671-736_671-734delinsAAC (n.671-736_671-734delinsAAC)
c.*3546_*3548delinsAAC (n.*3546_*3548delinsAAC)
c.57_59delinsAAC
c.788-736_788-734delinsAAC (n.788-736_788-734delinsAAC)
c.410-736_410-734delinsAAC (n.410-736_410-734delinsAAC)
c.413-736_413-734delinsAAC (n.413-736_413-734delinsAAC)
c.5-27817_5-27815delinsAAC (n.5-27817_5-27815delinsAAC)
c.-43-17247_-43-17245delinsAAC (n.-43-17247_-43-17245delinsAAC)
c.-99+33503_-99+33505delinsAAC (n.-99+33503_-99+33505delinsAAC)
n.3899_3901delinsAAC
n.3940_3942delinsAAC
17g.43091766_43091770delinsGTTCTCA2260782256BRCA1n.3825_3829delinsAGAAC
c.3761_3765delinsAGAAC (p.Lys1254=)
c.3635_3639delinsAGAAC (p.Lys1212=)
c.3758_3762delinsAGAAC (p.Lys1253=)
c.3683_3687delinsAGAAC (p.Lys1228=)
c.785-738_785-734delinsAGAAC (n.785-738_785-734delinsAGAAC)
c.647-738_647-734delinsAGAAC (n.647-738_647-734delinsAGAAC)
c.2873_2877delinsAGAAC (p.Lys958=)
c.3638_3642delinsAGAAC (p.Lys1213=)
c.3620_3624delinsAGAAC (p.Lys1207=)
c.665-738_665-734delinsAGAAC (n.665-738_665-734delinsAGAAC)
c.707-738_707-734delinsAGAAC (n.707-738_707-734delinsAGAAC)
c.82_86delinsAGAAC
c.671-738_671-734delinsAGAAC (n.671-738_671-734delinsAGAAC)
c.*3544_*3548delinsAGAAC (n.*3544_*3548delinsAGAAC)
c.55_59delinsAGAAC
c.788-738_788-734delinsAGAAC (n.788-738_788-734delinsAGAAC)
c.410-738_410-734delinsAGAAC (n.410-738_410-734delinsAGAAC)
c.413-738_413-734delinsAGAAC (n.413-738_413-734delinsAGAAC)
c.5-27819_5-27815delinsAGAAC (n.5-27819_5-27815delinsAGAAC)
c.-43-17249_-43-17245delinsAGAAC (n.-43-17249_-43-17245delinsAGAAC)
c.-99+33501_-99+33505delinsAGAAC (n.-99+33501_-99+33505delinsAGAAC)
n.3897_3901delinsAGAAC
n.3938_3942delinsAGAAC
17g.43091767T>ACA10594444BRCA1n.3828A>T
c.3764A>T (p.Asn1255Ile)
c.3638A>T (p.Asn1213Ile)
c.3761A>T (p.Asn1254Ile)
c.3686A>T (p.Asn1229Ile)
c.785-735A>T (n.785-735A>T)
c.647-735A>T (n.647-735A>T)
c.2876A>T (p.Asn959Ile)
c.3641A>T (p.Asn1214Ile)
c.3623A>T (p.Asn1208Ile)
c.665-735A>T (n.665-735A>T)
c.707-735A>T (n.707-735A>T)
c.85A>T
c.671-735A>T (n.671-735A>T)
c.*3547A>T (n.*3547A>T)
c.58A>T
c.788-735A>T (n.788-735A>T)
c.410-735A>T (n.410-735A>T)
c.413-735A>T (n.413-735A>T)
c.5-27816A>T (n.5-27816A>T)
c.-43-17246A>T (n.-43-17246A>T)
c.-99+33504A>T (n.-99+33504A>T)
n.3900A>T
n.3941A>T
dbSNP
17g.43091767T>CCA10594445BRCA1n.3828A>G
c.3764A>G (p.Asn1255Ser)
c.3638A>G (p.Asn1213Ser)
c.3761A>G (p.Asn1254Ser)
c.3686A>G (p.Asn1229Ser)
c.785-735A>G (n.785-735A>G)
c.647-735A>G (n.647-735A>G)
c.2876A>G (p.Asn959Ser)
c.3641A>G (p.Asn1214Ser)
c.3623A>G (p.Asn1208Ser)
c.665-735A>G (n.665-735A>G)
c.707-735A>G (n.707-735A>G)
c.85A>G
c.671-735A>G (n.671-735A>G)
c.*3547A>G (n.*3547A>G)
c.58A>G
c.788-735A>G (n.788-735A>G)
c.410-735A>G (n.410-735A>G)
c.413-735A>G (n.413-735A>G)
c.5-27816A>G (n.5-27816A>G)
c.-43-17246A>G (n.-43-17246A>G)
c.-99+33504A>G (n.-99+33504A>G)
n.3900A>G
n.3941A>G
dbSNP
17g.43091767T>GCA10594446BRCA1n.3828A>C
c.3764A>C (p.Asn1255Thr)
c.3638A>C (p.Asn1213Thr)
c.3761A>C (p.Asn1254Thr)
c.3686A>C (p.Asn1229Thr)
c.785-735A>C (n.785-735A>C)
c.647-735A>C (n.647-735A>C)
c.2876A>C (p.Asn959Thr)
c.3641A>C (p.Asn1214Thr)
c.3623A>C (p.Asn1208Thr)
c.665-735A>C (n.665-735A>C)
c.707-735A>C (n.707-735A>C)
c.85A>C
c.671-735A>C (n.671-735A>C)
c.*3547A>C (n.*3547A>C)
c.58A>C
c.788-735A>C (n.788-735A>C)
c.410-735A>C (n.410-735A>C)
c.413-735A>C (n.413-735A>C)
c.5-27816A>C (n.5-27816A>C)
c.-43-17246A>C (n.-43-17246A>C)
c.-99+33504A>C (n.-99+33504A>C)
n.3900A>C
n.3941A>C
17g.43091767_43091768delCA002419BRCA1n.3827_3828del
c.3763_3764del (p.Asn1255HisfsTer11)
c.3637_3638del (p.Asn1213HisfsTer11)
c.3760_3761del (p.Asn1254HisfsTer11)
c.3685_3686del (p.Asn1229HisfsTer11)
c.785-736_785-735del (n.785-736_785-735del)
c.647-736_647-735del (n.647-736_647-735del)
c.2875_2876del (p.Asn959HisfsTer11)
c.3640_3641del (p.Asn1214HisfsTer11)
c.3622_3623del (p.Asn1208HisfsTer11)
c.665-736_665-735del (n.665-736_665-735del)
c.707-736_707-735del (n.707-736_707-735del)
c.84_85del
c.671-736_671-735del (n.671-736_671-735del)
c.*3546_*3547del (n.*3546_*3547del)
c.57_58del
c.788-736_788-735del (n.788-736_788-735del)
c.410-736_410-735del (n.410-736_410-735del)
c.413-736_413-735del (n.413-736_413-735del)
c.5-27817_5-27816del (n.5-27817_5-27816del)
c.-43-17247_-43-17246del (n.-43-17247_-43-17246del)
c.-99+33503_-99+33504del (n.-99+33503_-99+33504del)
n.3899_3900del
n.3940_3941del
ClinVar dbSNP
17g.43091768dupCA002420BRCA1n.3828dup
c.3764dup (p.Asn1255LysfsTer12)
c.3638dup (p.Asn1213LysfsTer12)
c.3761dup (p.Asn1254LysfsTer12)
c.3686dup (p.Asn1229LysfsTer12)
c.785-735dup (n.785-735dup)
c.647-735dup (n.647-735dup)
c.2876dup (p.Asn959LysfsTer12)
c.3641dup (p.Asn1214LysfsTer12)
c.3623dup (p.Asn1208LysfsTer12)
c.665-735dup (n.665-735dup)
c.707-735dup (n.707-735dup)
c.85dup
c.671-735dup (n.671-735dup)
c.*3547dup (n.*3547dup)
c.58dup
c.788-735dup (n.788-735dup)
c.410-735dup (n.410-735dup)
c.413-735dup (n.413-735dup)
c.5-27816dup (n.5-27816dup)
c.-43-17246dup (n.-43-17246dup)
c.-99+33504dup (n.-99+33504dup)
n.3900dup
n.3941dup
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43091767_43091769delinsTTCCA2260782259BRCA1n.3826_3828delinsGAA
c.3762_3764delinsGAA (p.Lys1254=)
c.3636_3638delinsGAA (p.Lys1212=)
c.3759_3761delinsGAA (p.Lys1253=)
c.3684_3686delinsGAA (p.Lys1228=)
c.785-737_785-735delinsGAA (n.785-737_785-735delinsGAA)
c.647-737_647-735delinsGAA (n.647-737_647-735delinsGAA)
c.2874_2876delinsGAA (p.Lys958=)
c.3639_3641delinsGAA (p.Lys1213=)
c.3621_3623delinsGAA (p.Lys1207=)
c.665-737_665-735delinsGAA (n.665-737_665-735delinsGAA)
c.707-737_707-735delinsGAA (n.707-737_707-735delinsGAA)
c.83_85delinsGAA
c.671-737_671-735delinsGAA (n.671-737_671-735delinsGAA)
c.*3545_*3547delinsGAA (n.*3545_*3547delinsGAA)
c.56_58delinsGAA
c.788-737_788-735delinsGAA (n.788-737_788-735delinsGAA)
c.410-737_410-735delinsGAA (n.410-737_410-735delinsGAA)
c.413-737_413-735delinsGAA (n.413-737_413-735delinsGAA)
c.5-27818_5-27816delinsGAA (n.5-27818_5-27816delinsGAA)
c.-43-17248_-43-17246delinsGAA (n.-43-17248_-43-17246delinsGAA)
c.-99+33502_-99+33504delinsGAA (n.-99+33502_-99+33504delinsGAA)
n.3898_3900delinsGAA
n.3939_3941delinsGAA
17g.43091768_43091771delCA2260782258BRCA1n.3825_3828del
c.3761_3764del (p.Lys1254ThrfsTer9)
c.3635_3638del (p.Lys1212ThrfsTer9)
c.3758_3761del (p.Lys1253ThrfsTer9)
c.3683_3686del (p.Lys1228ThrfsTer9)
c.785-738_785-735del (n.785-738_785-735del)
c.647-738_647-735del (n.647-738_647-735del)
c.2873_2876del (p.Lys958ThrfsTer9)
c.3638_3641del (p.Lys1213ThrfsTer9)
c.3620_3623del (p.Lys1207ThrfsTer9)
c.665-738_665-735del (n.665-738_665-735del)
c.707-738_707-735del (n.707-738_707-735del)
c.82_85del
c.671-738_671-735del (n.671-738_671-735del)
c.*3544_*3547del (n.*3544_*3547del)
c.55_58del
c.788-738_788-735del (n.788-738_788-735del)
c.410-738_410-735del (n.410-738_410-735del)
c.413-738_413-735del (n.413-738_413-735del)
c.5-27819_5-27816del (n.5-27819_5-27816del)
c.-43-17249_-43-17246del (n.-43-17249_-43-17246del)
c.-99+33501_-99+33504del (n.-99+33501_-99+33504del)
n.3897_3900del
n.3938_3941del
ClinVar dbSNP

Number of alleles fetched