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.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.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.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
 ClinVar dbSNP gnomAD v4
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.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
17g.43091768T>ACA10594447BRCA1n.3827A>T
c.3763A>T (p.Asn1255Tyr)
c.3637A>T (p.Asn1213Tyr)
c.3760A>T (p.Asn1254Tyr)
c.3685A>T (p.Asn1229Tyr)
c.785-736A>T (n.785-736A>T)
c.647-736A>T (n.647-736A>T)
c.2875A>T (p.Asn959Tyr)
c.3640A>T (p.Asn1214Tyr)
c.3622A>T (p.Asn1208Tyr)
c.665-736A>T (n.665-736A>T)
c.707-736A>T (n.707-736A>T)
c.84A>T
c.671-736A>T (n.671-736A>T)
c.*3546A>T (n.*3546A>T)
c.57A>T
c.788-736A>T (n.788-736A>T)
c.410-736A>T (n.410-736A>T)
c.413-736A>T (n.413-736A>T)
c.5-27817A>T (n.5-27817A>T)
c.-43-17247A>T (n.-43-17247A>T)
c.-99+33503A>T (n.-99+33503A>T)
n.3899A>T
n.3940A>T
 dbSNP
17g.43091768T>CCA10594448BRCA1n.3827A>G
c.3763A>G (p.Asn1255Asp)
c.3637A>G (p.Asn1213Asp)
c.3760A>G (p.Asn1254Asp)
c.3685A>G (p.Asn1229Asp)
c.785-736A>G (n.785-736A>G)
c.647-736A>G (n.647-736A>G)
c.2875A>G (p.Asn959Asp)
c.3640A>G (p.Asn1214Asp)
c.3622A>G (p.Asn1208Asp)
c.665-736A>G (n.665-736A>G)
c.707-736A>G (n.707-736A>G)
c.84A>G
c.671-736A>G (n.671-736A>G)
c.*3546A>G (n.*3546A>G)
c.57A>G
c.788-736A>G (n.788-736A>G)
c.410-736A>G (n.410-736A>G)
c.413-736A>G (n.413-736A>G)
c.5-27817A>G (n.5-27817A>G)
c.-43-17247A>G (n.-43-17247A>G)
c.-99+33503A>G (n.-99+33503A>G)
n.3899A>G
n.3940A>G
 ClinVar dbSNP
17g.43091768T>GCA10594449BRCA1n.3827A>C
c.3763A>C (p.Asn1255His)
c.3637A>C (p.Asn1213His)
c.3760A>C (p.Asn1254His)
c.3685A>C (p.Asn1229His)
c.785-736A>C (n.785-736A>C)
c.647-736A>C (n.647-736A>C)
c.2875A>C (p.Asn959His)
c.3640A>C (p.Asn1214His)
c.3622A>C (p.Asn1208His)
c.665-736A>C (n.665-736A>C)
c.707-736A>C (n.707-736A>C)
c.84A>C
c.671-736A>C (n.671-736A>C)
c.*3546A>C (n.*3546A>C)
c.57A>C
c.788-736A>C (n.788-736A>C)
c.410-736A>C (n.410-736A>C)
c.413-736A>C (n.413-736A>C)
c.5-27817A>C (n.5-27817A>C)
c.-43-17247A>C (n.-43-17247A>C)
c.-99+33503A>C (n.-99+33503A>C)
n.3899A>C
n.3940A>C
 dbSNP
17g.43091768T=CA2260782260BRCA1n.3827A=
c.3763A= (p.Asn1255=)
c.3637A= (p.Asn1213=)
c.3760A= (p.Asn1254=)
c.3685A= (p.Asn1229=)
c.785-736A= (n.785-736A=)
c.647-736A= (n.647-736A=)
c.2875A= (p.Asn959=)
c.3640A= (p.Asn1214=)
c.3622A= (p.Asn1208=)
c.665-736A= (n.665-736A=)
c.707-736A= (n.707-736A=)
c.84A=
c.671-736A= (n.671-736A=)
c.*3546A= (n.*3546A=)
c.57A=
c.788-736A= (n.788-736A=)
c.410-736A= (n.410-736A=)
c.413-736A= (n.413-736A=)
c.5-27817A= (n.5-27817A=)
c.-43-17247A= (n.-43-17247A=)
c.-99+33503A= (n.-99+33503A=)
n.3899A=
n.3940A=
17g.43091769_43091770delCA002418BRCA1n.3826_3827del
c.3762_3763del (p.Asn1255HisfsTer11)
c.3636_3637del (p.Asn1213HisfsTer11)
c.3759_3760del (p.Asn1254HisfsTer11)
c.3684_3685del (p.Asn1229HisfsTer11)
c.785-737_785-736del (n.785-737_785-736del)
c.647-737_647-736del (n.647-737_647-736del)
c.2874_2875del (p.Asn959HisfsTer11)
c.3639_3640del (p.Asn1214HisfsTer11)
c.3621_3622del (p.Asn1208HisfsTer11)
c.665-737_665-736del (n.665-737_665-736del)
c.707-737_707-736del (n.707-737_707-736del)
c.83_84del
c.671-737_671-736del (n.671-737_671-736del)
c.*3545_*3546del (n.*3545_*3546del)
c.56_57del
c.788-737_788-736del (n.788-737_788-736del)
c.410-737_410-736del (n.410-737_410-736del)
c.413-737_413-736del (n.413-737_413-736del)
c.5-27818_5-27817del (n.5-27818_5-27817del)
c.-43-17248_-43-17247del (n.-43-17248_-43-17247del)
c.-99+33502_-99+33503del (n.-99+33502_-99+33503del)
n.3898_3899del
n.3939_3940del
 ClinVar dbSNP
17g.43091768_43091769insAACA658823939BRCA1n.3826_3827insTT
c.3762_3763insTT (p.Asn1255LeufsTer10)
c.3636_3637insTT (p.Asn1213LeufsTer10)
c.3759_3760insTT (p.Asn1254LeufsTer10)
c.3684_3685insTT (p.Asn1229LeufsTer10)
c.785-737_785-736insTT (n.785-737_785-736insTT)
c.647-737_647-736insTT (n.647-737_647-736insTT)
c.2874_2875insTT (p.Asn959LeufsTer10)
c.3639_3640insTT (p.Asn1214LeufsTer10)
c.3621_3622insTT (p.Asn1208LeufsTer10)
c.665-737_665-736insTT (n.665-737_665-736insTT)
c.707-737_707-736insTT (n.707-737_707-736insTT)
c.83_84insTT
c.671-737_671-736insTT (n.671-737_671-736insTT)
c.*3545_*3546insTT (n.*3545_*3546insTT)
c.56_57insTT
c.788-737_788-736insTT (n.788-737_788-736insTT)
c.410-737_410-736insTT (n.410-737_410-736insTT)
c.413-737_413-736insTT (n.413-737_413-736insTT)
c.5-27818_5-27817insTT (n.5-27818_5-27817insTT)
c.-43-17248_-43-17247insTT (n.-43-17248_-43-17247insTT)
c.-99+33502_-99+33503insTT (n.-99+33502_-99+33503insTT)
n.3898_3899insTT
n.3939_3940insTT
 ClinVar dbSNP
17g.43091769C>ACA10594450BRCA1n.3826G>T
c.3762G>T (p.Lys1254Asn)
c.3636G>T (p.Lys1212Asn)
c.3759G>T (p.Lys1253Asn)
c.3684G>T (p.Lys1228Asn)
c.785-737G>T (n.785-737G>T)
c.647-737G>T (n.647-737G>T)
c.2874G>T (p.Lys958Asn)
c.3639G>T (p.Lys1213Asn)
c.3621G>T (p.Lys1207Asn)
c.665-737G>T (n.665-737G>T)
c.707-737G>T (n.707-737G>T)
c.83G>T
c.671-737G>T (n.671-737G>T)
c.*3545G>T (n.*3545G>T)
c.56G>T
c.788-737G>T (n.788-737G>T)
c.410-737G>T (n.410-737G>T)
c.413-737G>T (n.413-737G>T)
c.5-27818G>T (n.5-27818G>T)
c.-43-17248G>T (n.-43-17248G>T)
c.-99+33502G>T (n.-99+33502G>T)
n.3898G>T
n.3939G>T
 ClinVar dbSNP gnomAD v4
17g.43091769C=CA2260782261BRCA1n.3826G=
c.3762G= (p.Lys1254=)
c.3636G= (p.Lys1212=)
c.3759G= (p.Lys1253=)
c.3684G= (p.Lys1228=)
c.785-737G= (n.785-737G=)
c.647-737G= (n.647-737G=)
c.2874G= (p.Lys958=)
c.3639G= (p.Lys1213=)
c.3621G= (p.Lys1207=)
c.665-737G= (n.665-737G=)
c.707-737G= (n.707-737G=)
c.83G=
c.671-737G= (n.671-737G=)
c.*3545G= (n.*3545G=)
c.56G=
c.788-737G= (n.788-737G=)
c.410-737G= (n.410-737G=)
c.413-737G= (n.413-737G=)
c.5-27818G= (n.5-27818G=)
c.-43-17248G= (n.-43-17248G=)
c.-99+33502G= (n.-99+33502G=)
n.3898G=
n.3939G=
17g.43091769C>GCA10594451BRCA1n.3826G>C
c.3762G>C (p.Lys1254Asn)
c.3636G>C (p.Lys1212Asn)
c.3759G>C (p.Lys1253Asn)
c.3684G>C (p.Lys1228Asn)
c.785-737G>C (n.785-737G>C)
c.647-737G>C (n.647-737G>C)
c.2874G>C (p.Lys958Asn)
c.3639G>C (p.Lys1213Asn)
c.3621G>C (p.Lys1207Asn)
c.665-737G>C (n.665-737G>C)
c.707-737G>C (n.707-737G>C)
c.83G>C
c.671-737G>C (n.671-737G>C)
c.*3545G>C (n.*3545G>C)
c.56G>C
c.788-737G>C (n.788-737G>C)
c.410-737G>C (n.410-737G>C)
c.413-737G>C (n.413-737G>C)
c.5-27818G>C (n.5-27818G>C)
c.-43-17248G>C (n.-43-17248G>C)
c.-99+33502G>C (n.-99+33502G>C)
n.3898G>C
n.3939G>C
17g.43091769C>TCA500232222BRCA1n.3826G>A
c.3762G>A (p.Lys1254=)
c.3636G>A (p.Lys1212=)
c.3759G>A (p.Lys1253=)
c.3684G>A (p.Lys1228=)
c.785-737G>A (n.785-737G>A)
c.647-737G>A (n.647-737G>A)
c.2874G>A (p.Lys958=)
c.3639G>A (p.Lys1213=)
c.3621G>A (p.Lys1207=)
c.665-737G>A (n.665-737G>A)
c.707-737G>A (n.707-737G>A)
c.83G>A
c.671-737G>A (n.671-737G>A)
c.*3545G>A (n.*3545G>A)
c.56G>A
c.788-737G>A (n.788-737G>A)
c.410-737G>A (n.410-737G>A)
c.413-737G>A (n.413-737G>A)
c.5-27818G>A (n.5-27818G>A)
c.-43-17248G>A (n.-43-17248G>A)
c.-99+33502G>A (n.-99+33502G>A)
n.3898G>A
n.3939G>A
 dbSNP
17g.43091769_43091770insACA658823940BRCA1n.3825_3826insT
c.3761_3762insT (p.Lys1254AsnfsTer13)
c.3635_3636insT (p.Lys1212AsnfsTer13)
c.3758_3759insT (p.Lys1253AsnfsTer13)
c.3683_3684insT (p.Lys1228AsnfsTer13)
c.785-738_785-737insT (n.785-738_785-737insT)
c.647-738_647-737insT (n.647-738_647-737insT)
c.2873_2874insT (p.Lys958AsnfsTer13)
c.3638_3639insT (p.Lys1213AsnfsTer13)
c.3620_3621insT (p.Lys1207AsnfsTer13)
c.665-738_665-737insT (n.665-738_665-737insT)
c.707-738_707-737insT (n.707-738_707-737insT)
c.82_83insT
c.671-738_671-737insT (n.671-738_671-737insT)
c.*3544_*3545insT (n.*3544_*3545insT)
c.55_56insT
c.788-738_788-737insT (n.788-738_788-737insT)
c.410-738_410-737insT (n.410-738_410-737insT)
c.413-738_413-737insT (n.413-738_413-737insT)
c.5-27819_5-27818insT (n.5-27819_5-27818insT)
c.-43-17249_-43-17248insT (n.-43-17249_-43-17248insT)
c.-99+33501_-99+33502insT (n.-99+33501_-99+33502insT)
n.3897_3898insT
n.3938_3939insT
 ClinVar dbSNP
17g.43091769_43091770insAACA002417BRCA1n.3825_3826insTT
c.3761_3762insTT (p.Lys1254AsnfsTer2)
c.3635_3636insTT (p.Lys1212AsnfsTer2)
c.3758_3759insTT (p.Lys1253AsnfsTer2)
c.3683_3684insTT (p.Lys1228AsnfsTer2)
c.785-738_785-737insTT (n.785-738_785-737insTT)
c.647-738_647-737insTT (n.647-738_647-737insTT)
c.2873_2874insTT (p.Lys958AsnfsTer2)
c.3638_3639insTT (p.Lys1213AsnfsTer2)
c.3620_3621insTT (p.Lys1207AsnfsTer2)
c.665-738_665-737insTT (n.665-738_665-737insTT)
c.707-738_707-737insTT (n.707-738_707-737insTT)
c.82_83insTT
c.671-738_671-737insTT (n.671-738_671-737insTT)
c.*3544_*3545insTT (n.*3544_*3545insTT)
c.55_56insTT
c.788-738_788-737insTT (n.788-738_788-737insTT)
c.410-738_410-737insTT (n.410-738_410-737insTT)
c.413-738_413-737insTT (n.413-738_413-737insTT)
c.5-27819_5-27818insTT (n.5-27819_5-27818insTT)
c.-43-17249_-43-17248insTT (n.-43-17249_-43-17248insTT)
c.-99+33501_-99+33502insTT (n.-99+33501_-99+33502insTT)
n.3897_3898insTT
n.3938_3939insTT
 ClinVar dbSNP
17g.43091770T>ACA10594452BRCA1n.3825A>T
c.3761A>T (p.Lys1254Met)
c.3635A>T (p.Lys1212Met)
c.3758A>T (p.Lys1253Met)
c.3683A>T (p.Lys1228Met)
c.785-738A>T (n.785-738A>T)
c.647-738A>T (n.647-738A>T)
c.2873A>T (p.Lys958Met)
c.3638A>T (p.Lys1213Met)
c.3620A>T (p.Lys1207Met)
c.665-738A>T (n.665-738A>T)
c.707-738A>T (n.707-738A>T)
c.82A>T
c.671-738A>T (n.671-738A>T)
c.*3544A>T (n.*3544A>T)
c.55A>T
c.788-738A>T (n.788-738A>T)
c.410-738A>T (n.410-738A>T)
c.413-738A>T (n.413-738A>T)
c.5-27819A>T (n.5-27819A>T)
c.-43-17249A>T (n.-43-17249A>T)
c.-99+33501A>T (n.-99+33501A>T)
n.3897A>T
n.3938A>T
 dbSNP
17g.43091770T>CCA10594453BRCA1n.3825A>G
c.3761A>G (p.Lys1254Arg)
c.3635A>G (p.Lys1212Arg)
c.3758A>G (p.Lys1253Arg)
c.3683A>G (p.Lys1228Arg)
c.785-738A>G (n.785-738A>G)
c.647-738A>G (n.647-738A>G)
c.2873A>G (p.Lys958Arg)
c.3638A>G (p.Lys1213Arg)
c.3620A>G (p.Lys1207Arg)
c.665-738A>G (n.665-738A>G)
c.707-738A>G (n.707-738A>G)
c.82A>G
c.671-738A>G (n.671-738A>G)
c.*3544A>G (n.*3544A>G)
c.55A>G
c.788-738A>G (n.788-738A>G)
c.410-738A>G (n.410-738A>G)
c.413-738A>G (n.413-738A>G)
c.5-27819A>G (n.5-27819A>G)
c.-43-17249A>G (n.-43-17249A>G)
c.-99+33501A>G (n.-99+33501A>G)
n.3897A>G
n.3938A>G
 dbSNP
17g.43091770T>GCA10594454BRCA1n.3825A>C
c.3761A>C (p.Lys1254Thr)
c.3635A>C (p.Lys1212Thr)
c.3758A>C (p.Lys1253Thr)
c.3683A>C (p.Lys1228Thr)
c.785-738A>C (n.785-738A>C)
c.647-738A>C (n.647-738A>C)
c.2873A>C (p.Lys958Thr)
c.3638A>C (p.Lys1213Thr)
c.3620A>C (p.Lys1207Thr)
c.665-738A>C (n.665-738A>C)
c.707-738A>C (n.707-738A>C)
c.82A>C
c.671-738A>C (n.671-738A>C)
c.*3544A>C (n.*3544A>C)
c.55A>C
c.788-738A>C (n.788-738A>C)
c.410-738A>C (n.410-738A>C)
c.413-738A>C (n.413-738A>C)
c.5-27819A>C (n.5-27819A>C)
c.-43-17249A>C (n.-43-17249A>C)
c.-99+33501A>C (n.-99+33501A>C)
n.3897A>C
n.3938A>C
 COSMIC
17g.43091770T=CA2260782263BRCA1n.3825A=
c.3761A= (p.Lys1254=)
c.3635A= (p.Lys1212=)
c.3758A= (p.Lys1253=)
c.3683A= (p.Lys1228=)
c.785-738A= (n.785-738A=)
c.647-738A= (n.647-738A=)
c.2873A= (p.Lys958=)
c.3638A= (p.Lys1213=)
c.3620A= (p.Lys1207=)
c.665-738A= (n.665-738A=)
c.707-738A= (n.707-738A=)
c.82A=
c.671-738A= (n.671-738A=)
c.*3544A= (n.*3544A=)
c.55A=
c.788-738A= (n.788-738A=)
c.410-738A= (n.410-738A=)
c.413-738A= (n.413-738A=)
c.5-27819A= (n.5-27819A=)
c.-43-17249A= (n.-43-17249A=)
c.-99+33501A= (n.-99+33501A=)
n.3897A=
n.3938A=
17g.43091770_43091772delinsTTACA2260782264BRCA1n.3823_3825delinsTAA
c.3759_3761delinsTAA (p.Ser1253=)
c.3633_3635delinsTAA (p.Ser1211=)
c.3756_3758delinsTAA (p.Ser1252=)
c.3681_3683delinsTAA (p.Ser1227=)
c.785-740_785-738delinsTAA (n.785-740_785-738delinsTAA)
c.647-740_647-738delinsTAA (n.647-740_647-738delinsTAA)
c.2871_2873delinsTAA (p.Ser957=)
c.3636_3638delinsTAA (p.Ser1212=)
c.3618_3620delinsTAA (p.Ser1206=)
c.665-740_665-738delinsTAA (n.665-740_665-738delinsTAA)
c.707-740_707-738delinsTAA (n.707-740_707-738delinsTAA)
c.80_82delinsTAA
c.671-740_671-738delinsTAA (n.671-740_671-738delinsTAA)
c.*3542_*3544delinsTAA (n.*3542_*3544delinsTAA)
c.53_55delinsTAA
c.788-740_788-738delinsTAA (n.788-740_788-738delinsTAA)
c.410-740_410-738delinsTAA (n.410-740_410-738delinsTAA)
c.413-740_413-738delinsTAA (n.413-740_413-738delinsTAA)
c.5-27821_5-27819delinsTAA (n.5-27821_5-27819delinsTAA)
c.-43-17251_-43-17249delinsTAA (n.-43-17251_-43-17249delinsTAA)
c.-99+33499_-99+33501delinsTAA (n.-99+33499_-99+33501delinsTAA)
n.3895_3897delinsTAA
n.3936_3938delinsTAA
17g.43091770_43091775delinsTTAGACCA2260782262BRCA1n.3820_3825delinsGTCTAA
c.3756_3761delinsGTCTAA (p.Leu1252=)
c.3630_3635delinsGTCTAA (p.Leu1210=)
c.3753_3758delinsGTCTAA (p.Leu1251=)
c.3678_3683delinsGTCTAA (p.Leu1226=)
c.785-743_785-738delinsGTCTAA (n.785-743_785-738delinsGTCTAA)
c.647-743_647-738delinsGTCTAA (n.647-743_647-738delinsGTCTAA)
c.2868_2873delinsGTCTAA (p.Leu956=)
c.3633_3638delinsGTCTAA (p.Leu1211=)
c.3615_3620delinsGTCTAA (p.Leu1205=)
c.665-743_665-738delinsGTCTAA (n.665-743_665-738delinsGTCTAA)
c.707-743_707-738delinsGTCTAA (n.707-743_707-738delinsGTCTAA)
c.77_82delinsGTCTAA
c.671-743_671-738delinsGTCTAA (n.671-743_671-738delinsGTCTAA)
c.*3539_*3544delinsGTCTAA (n.*3539_*3544delinsGTCTAA)
c.50_55delinsGTCTAA
c.788-743_788-738delinsGTCTAA (n.788-743_788-738delinsGTCTAA)
c.410-743_410-738delinsGTCTAA (n.410-743_410-738delinsGTCTAA)
c.413-743_413-738delinsGTCTAA (n.413-743_413-738delinsGTCTAA)
c.5-27824_5-27819delinsGTCTAA (n.5-27824_5-27819delinsGTCTAA)
c.-43-17254_-43-17249delinsGTCTAA (n.-43-17254_-43-17249delinsGTCTAA)
c.-99+33496_-99+33501delinsGTCTAA (n.-99+33496_-99+33501delinsGTCTAA)
n.3892_3897delinsGTCTAA
n.3933_3938delinsGTCTAA
17g.43091770_43091771insACA002414BRCA1n.3824_3825insT
c.3760_3761insT (p.Lys1254IlefsTer13)
c.3634_3635insT (p.Lys1212IlefsTer13)
c.3757_3758insT (p.Lys1253IlefsTer13)
c.3682_3683insT (p.Lys1228IlefsTer13)
c.785-739_785-738insT (n.785-739_785-738insT)
c.647-739_647-738insT (n.647-739_647-738insT)
c.2872_2873insT (p.Lys958IlefsTer13)
c.3637_3638insT (p.Lys1213IlefsTer13)
c.3619_3620insT (p.Lys1207IlefsTer13)
c.665-739_665-738insT (n.665-739_665-738insT)
c.707-739_707-738insT (n.707-739_707-738insT)
c.81_82insT
c.671-739_671-738insT (n.671-739_671-738insT)
c.*3543_*3544insT (n.*3543_*3544insT)
c.54_55insT
c.788-739_788-738insT (n.788-739_788-738insT)
c.410-739_410-738insT (n.410-739_410-738insT)
c.413-739_413-738insT (n.413-739_413-738insT)
c.5-27820_5-27819insT (n.5-27820_5-27819insT)
c.-43-17250_-43-17249insT (n.-43-17250_-43-17249insT)
c.-99+33500_-99+33501insT (n.-99+33500_-99+33501insT)
n.3896_3897insT
n.3937_3938insT
 ClinVar dbSNP
17g.43091771T>ACA10594455BRCA1n.3824A>T
c.3760A>T (p.Lys1254Ter)
c.3634A>T (p.Lys1212Ter)
c.3757A>T (p.Lys1253Ter)
c.3682A>T (p.Lys1228Ter)
c.785-739A>T (n.785-739A>T)
c.647-739A>T (n.647-739A>T)
c.2872A>T (p.Lys958Ter)
c.3637A>T (p.Lys1213Ter)
c.3619A>T (p.Lys1207Ter)
c.665-739A>T (n.665-739A>T)
c.707-739A>T (n.707-739A>T)
c.81A>T
c.671-739A>T (n.671-739A>T)
c.*3543A>T (n.*3543A>T)
c.54A>T
c.788-739A>T (n.788-739A>T)
c.410-739A>T (n.410-739A>T)
c.413-739A>T (n.413-739A>T)
c.5-27820A>T (n.5-27820A>T)
c.-43-17250A>T (n.-43-17250A>T)
c.-99+33500A>T (n.-99+33500A>T)
n.3896A>T
n.3937A>T
 ClinVar
17g.43091771T>CCA002415BRCA1n.3824A>G
c.3760A>G (p.Lys1254Glu)
c.3634A>G (p.Lys1212Glu)
c.3757A>G (p.Lys1253Glu)
c.3682A>G (p.Lys1228Glu)
c.785-739A>G (n.785-739A>G)
c.647-739A>G (n.647-739A>G)
c.2872A>G (p.Lys958Glu)
c.3637A>G (p.Lys1213Glu)
c.3619A>G (p.Lys1207Glu)
c.665-739A>G (n.665-739A>G)
c.707-739A>G (n.707-739A>G)
c.81A>G
c.671-739A>G (n.671-739A>G)
c.*3543A>G (n.*3543A>G)
c.54A>G
c.788-739A>G (n.788-739A>G)
c.410-739A>G (n.410-739A>G)
c.413-739A>G (n.413-739A>G)
c.5-27820A>G (n.5-27820A>G)
c.-43-17250A>G (n.-43-17250A>G)
c.-99+33500A>G (n.-99+33500A>G)
n.3896A>G
n.3937A>G
 ClinVar dbSNP gnomAD v4
17g.43091771T>GCA10594456BRCA1n.3824A>C
c.3760A>C (p.Lys1254Gln)
c.3634A>C (p.Lys1212Gln)
c.3757A>C (p.Lys1253Gln)
c.3682A>C (p.Lys1228Gln)
c.785-739A>C (n.785-739A>C)
c.647-739A>C (n.647-739A>C)
c.2872A>C (p.Lys958Gln)
c.3637A>C (p.Lys1213Gln)
c.3619A>C (p.Lys1207Gln)
c.665-739A>C (n.665-739A>C)
c.707-739A>C (n.707-739A>C)
c.81A>C
c.671-739A>C (n.671-739A>C)
c.*3543A>C (n.*3543A>C)
c.54A>C
c.788-739A>C (n.788-739A>C)
c.410-739A>C (n.410-739A>C)
c.413-739A>C (n.413-739A>C)
c.5-27820A>C (n.5-27820A>C)
c.-43-17250A>C (n.-43-17250A>C)
c.-99+33500A>C (n.-99+33500A>C)
n.3896A>C
n.3937A>C
17g.43091771T=CA2260782268BRCA1n.3824A=
c.3760A= (p.Lys1254=)
c.3634A= (p.Lys1212=)
c.3757A= (p.Lys1253=)
c.3682A= (p.Lys1228=)
c.785-739A= (n.785-739A=)
c.647-739A= (n.647-739A=)
c.2872A= (p.Lys958=)
c.3637A= (p.Lys1213=)
c.3619A= (p.Lys1207=)
c.665-739A= (n.665-739A=)
c.707-739A= (n.707-739A=)
c.81A=
c.671-739A= (n.671-739A=)
c.*3543A= (n.*3543A=)
c.54A=
c.788-739A= (n.788-739A=)
c.410-739A= (n.410-739A=)
c.413-739A= (n.413-739A=)
c.5-27820A= (n.5-27820A=)
c.-43-17250A= (n.-43-17250A=)
c.-99+33500A= (n.-99+33500A=)
n.3896A=
n.3937A=
17g.43091771_43091772delCA002410BRCA1n.3823_3824del
c.3759_3760del (p.Lys1254GlufsTer12)
c.3633_3634del (p.Lys1212GlufsTer12)
c.3756_3757del (p.Lys1253GlufsTer12)
c.3681_3682del (p.Lys1228GlufsTer12)
c.785-740_785-739del (n.785-740_785-739del)
c.647-740_647-739del (n.647-740_647-739del)
c.2871_2872del (p.Lys958GlufsTer12)
c.3636_3637del (p.Lys1213GlufsTer12)
c.3618_3619del (p.Lys1207GlufsTer12)
c.665-740_665-739del (n.665-740_665-739del)
c.707-740_707-739del (n.707-740_707-739del)
c.80_81del
c.671-740_671-739del (n.671-740_671-739del)
c.*3542_*3543del (n.*3542_*3543del)
c.53_54del
c.788-740_788-739del (n.788-740_788-739del)
c.410-740_410-739del (n.410-740_410-739del)
c.413-740_413-739del (n.413-740_413-739del)
c.5-27821_5-27820del (n.5-27821_5-27820del)
c.-43-17251_-43-17250del (n.-43-17251_-43-17250del)
c.-99+33499_-99+33500del (n.-99+33499_-99+33500del)
n.3895_3896del
n.3936_3937del
 ClinVar dbSNP
17g.43091771_43091772delinsTACA2260782266BRCA1n.3823_3824delinsTA
c.3759_3760delinsTA (p.Ser1253=)
c.3633_3634delinsTA (p.Ser1211=)
c.3756_3757delinsTA (p.Ser1252=)
c.3681_3682delinsTA (p.Ser1227=)
c.785-740_785-739delinsTA (n.785-740_785-739delinsTA)
c.647-740_647-739delinsTA (n.647-740_647-739delinsTA)
c.2871_2872delinsTA (p.Ser957=)
c.3636_3637delinsTA (p.Ser1212=)
c.3618_3619delinsTA (p.Ser1206=)
c.665-740_665-739delinsTA (n.665-740_665-739delinsTA)
c.707-740_707-739delinsTA (n.707-740_707-739delinsTA)
c.80_81delinsTA
c.671-740_671-739delinsTA (n.671-740_671-739delinsTA)
c.*3542_*3543delinsTA (n.*3542_*3543delinsTA)
c.53_54delinsTA
c.788-740_788-739delinsTA (n.788-740_788-739delinsTA)
c.410-740_410-739delinsTA (n.410-740_410-739delinsTA)
c.413-740_413-739delinsTA (n.413-740_413-739delinsTA)
c.5-27821_5-27820delinsTA (n.5-27821_5-27820delinsTA)
c.-43-17251_-43-17250delinsTA (n.-43-17251_-43-17250delinsTA)
c.-99+33499_-99+33500delinsTA (n.-99+33499_-99+33500delinsTA)
n.3895_3896delinsTA
n.3936_3937delinsTA
17g.43091771_43091773delinsTAGCA2260782265BRCA1n.3822_3824delinsCTA
c.3758_3760delinsCTA (p.Ser1253=)
c.3632_3634delinsCTA (p.Ser1211=)
c.3755_3757delinsCTA (p.Ser1252=)
c.3680_3682delinsCTA (p.Ser1227=)
c.785-741_785-739delinsCTA (n.785-741_785-739delinsCTA)
c.647-741_647-739delinsCTA (n.647-741_647-739delinsCTA)
c.2870_2872delinsCTA (p.Ser957=)
c.3635_3637delinsCTA (p.Ser1212=)
c.3617_3619delinsCTA (p.Ser1206=)
c.665-741_665-739delinsCTA (n.665-741_665-739delinsCTA)
c.707-741_707-739delinsCTA (n.707-741_707-739delinsCTA)
c.79_81delinsCTA
c.671-741_671-739delinsCTA (n.671-741_671-739delinsCTA)
c.*3541_*3543delinsCTA (n.*3541_*3543delinsCTA)
c.52_54delinsCTA
c.788-741_788-739delinsCTA (n.788-741_788-739delinsCTA)
c.410-741_410-739delinsCTA (n.410-741_410-739delinsCTA)
c.413-741_413-739delinsCTA (n.413-741_413-739delinsCTA)
c.5-27822_5-27820delinsCTA (n.5-27822_5-27820delinsCTA)
c.-43-17252_-43-17250delinsCTA (n.-43-17252_-43-17250delinsCTA)
c.-99+33498_-99+33500delinsCTA (n.-99+33498_-99+33500delinsCTA)
n.3894_3896delinsCTA
n.3935_3937delinsCTA
17g.43091771_43091775delCA10589725BRCA1n.3820_3824del
c.3756_3760del (p.Ser1253GlufsTer12)
c.3630_3634del (p.Ser1211GlufsTer12)
c.3753_3757del (p.Ser1252GlufsTer12)
c.3678_3682del (p.Ser1227GlufsTer12)
c.785-743_785-739del (n.785-743_785-739del)
c.647-743_647-739del (n.647-743_647-739del)
c.2868_2872del (p.Ser957GlufsTer12)
c.3633_3637del (p.Ser1212GlufsTer12)
c.3615_3619del (p.Ser1206GlufsTer12)
c.665-743_665-739del (n.665-743_665-739del)
c.707-743_707-739del (n.707-743_707-739del)
c.77_81del
c.671-743_671-739del (n.671-743_671-739del)
c.*3539_*3543del (n.*3539_*3543del)
c.50_54del
c.788-743_788-739del (n.788-743_788-739del)
c.410-743_410-739del (n.410-743_410-739del)
c.413-743_413-739del (n.413-743_413-739del)
c.5-27824_5-27820del (n.5-27824_5-27820del)
c.-43-17254_-43-17250del (n.-43-17254_-43-17250del)
c.-99+33496_-99+33500del (n.-99+33496_-99+33500del)
n.3892_3896del
n.3933_3937del
 ClinVar dbSNP
17g.43091771_43091775delinsTAGACCA2260782267BRCA1n.3820_3824delinsGTCTA
c.3756_3760delinsGTCTA (p.Leu1252=)
c.3630_3634delinsGTCTA (p.Leu1210=)
c.3753_3757delinsGTCTA (p.Leu1251=)
c.3678_3682delinsGTCTA (p.Leu1226=)
c.785-743_785-739delinsGTCTA (n.785-743_785-739delinsGTCTA)
c.647-743_647-739delinsGTCTA (n.647-743_647-739delinsGTCTA)
c.2868_2872delinsGTCTA (p.Leu956=)
c.3633_3637delinsGTCTA (p.Leu1211=)
c.3615_3619delinsGTCTA (p.Leu1205=)
c.665-743_665-739delinsGTCTA (n.665-743_665-739delinsGTCTA)
c.707-743_707-739delinsGTCTA (n.707-743_707-739delinsGTCTA)
c.77_81delinsGTCTA
c.671-743_671-739delinsGTCTA (n.671-743_671-739delinsGTCTA)
c.*3539_*3543delinsGTCTA (n.*3539_*3543delinsGTCTA)
c.50_54delinsGTCTA
c.788-743_788-739delinsGTCTA (n.788-743_788-739delinsGTCTA)
c.410-743_410-739delinsGTCTA (n.410-743_410-739delinsGTCTA)
c.413-743_413-739delinsGTCTA (n.413-743_413-739delinsGTCTA)
c.5-27824_5-27820delinsGTCTA (n.5-27824_5-27820delinsGTCTA)
c.-43-17254_-43-17250delinsGTCTA (n.-43-17254_-43-17250delinsGTCTA)
c.-99+33496_-99+33500delinsGTCTA (n.-99+33496_-99+33500delinsGTCTA)
n.3892_3896delinsGTCTA
n.3933_3937delinsGTCTA
17g.43091772delCA002412BRCA1n.3823del
c.3759del (p.Lys1254ArgfsTer10)
c.3633del (p.Lys1212ArgfsTer10)
c.3756del (p.Lys1253ArgfsTer10)
c.3681del (p.Lys1228ArgfsTer10)
c.785-740del (n.785-740del)
c.647-740del (n.647-740del)
c.2871del (p.Lys958ArgfsTer10)
c.3636del (p.Lys1213ArgfsTer10)
c.3618del (p.Lys1207ArgfsTer10)
c.665-740del (n.665-740del)
c.707-740del (n.707-740del)
c.80del
c.671-740del (n.671-740del)
c.*3542del (n.*3542del)
c.53del
c.788-740del (n.788-740del)
c.410-740del (n.410-740del)
c.413-740del (n.413-740del)
c.5-27821del (n.5-27821del)
c.-43-17251del (n.-43-17251del)
c.-99+33499del (n.-99+33499del)
n.3895del
n.3936del
 ClinVar dbSNP

Number of alleles fetched