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.43091424_43091540delinsGGTTCCAATACCTAAGTTTGAATCCATGCTTTGCTCTTCTTGATTATTTTCTTCCAAGCCCGTTCCTCTTTCTTCATCATCTGAAACCAATTCCTTGTCACTCAGACCAACTCCCTGCA2260781901BRCA1n.4055_4171delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC
c.3991_4096+11delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC
c.3865_3970+11delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC
c.3988_4093+11delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC
c.3913_4018+11delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC
c.785-508_785-392delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC (n.785-508_785-392delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC)
c.647-508_647-392delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC (n.647-508_647-392delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC)
c.3103_3208+11delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC
c.3868_3973+11delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC
c.3850_3955+11delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC
c.665-508_665-392delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC (n.665-508_665-392delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC)
c.707-508_707-392delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC (n.707-508_707-392delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC)
c.312_417+11delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC
c.671-508_671-392delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC (n.671-508_671-392delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC)
c.3991_4107delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC (p.Gln1331=)
c.*3774_*3879+11delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC
c.285_390+11delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC
c.788-508_788-392delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC (n.788-508_788-392delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC)
c.410-508_410-392delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC (n.410-508_410-392delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC)
c.413-508_413-392delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC (n.413-508_413-392delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC)
c.5-27589_5-27473delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC (n.5-27589_5-27473delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC)
c.-43-17019_-43-16903delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC (n.-43-17019_-43-16903delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC)
c.-99+33731_-99+33847delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC (n.-99+33731_-99+33847delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC)
n.4127_4232+11delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC
n.4168_4273+11delinsCAGGGAGTTGGTCTGAGTGACAAGGAATTGGTTTCAGATGATGAAGAAAGAGGAACGGGCTTGGAAGAAAATAATCAAGAAGAGCAAAGCATGGATTCAAACTTAGGTATTGGAACC
17g.43091425_43091540delinsATCA1139665604BRCA1n.4055_4170delinsAT
c.3991_4096+10delinsAT
c.3865_3970+10delinsAT
c.3988_4093+10delinsAT
c.3913_4018+10delinsAT
c.785-508_785-393delinsAT (n.785-508_785-393delinsAT)
c.647-508_647-393delinsAT (n.647-508_647-393delinsAT)
c.3103_3208+10delinsAT
c.3868_3973+10delinsAT
c.3850_3955+10delinsAT
c.665-508_665-393delinsAT (n.665-508_665-393delinsAT)
c.707-508_707-393delinsAT (n.707-508_707-393delinsAT)
c.312_417+10delinsAT
c.671-508_671-393delinsAT (n.671-508_671-393delinsAT)
c.3991_4106delinsAT (p.Gln1331_Thr1369delinsIle)
c.*3774_*3879+10delinsAT
c.285_390+10delinsAT
c.788-508_788-393delinsAT (n.788-508_788-393delinsAT)
c.410-508_410-393delinsAT (n.410-508_410-393delinsAT)
c.413-508_413-393delinsAT (n.413-508_413-393delinsAT)
c.5-27589_5-27474delinsAT (n.5-27589_5-27474delinsAT)
c.-43-17019_-43-16904delinsAT (n.-43-17019_-43-16904delinsAT)
c.-99+33731_-99+33846delinsAT (n.-99+33731_-99+33846delinsAT)
n.4127_4232+10delinsAT
n.4168_4273+10delinsAT
ClinVar dbSNP
17g.43091433_43091540delCA2638062434BRCA1n.4055_4162del
c.3991_4096+2del
c.3865_3970+2del
c.3988_4093+2del
c.3913_4018+2del
c.785-508_785-401del (n.785-508_785-401del)
c.647-508_647-401del (n.647-508_647-401del)
c.3103_3208+2del
c.3868_3973+2del
c.3850_3955+2del
c.665-508_665-401del (n.665-508_665-401del)
c.707-508_707-401del (n.707-508_707-401del)
c.312_417+2del
c.671-508_671-401del (n.671-508_671-401del)
c.3991_4098del (p.Gln1331_Gly1366del)
c.*3774_*3879+2del
c.285_390+2del
c.788-508_788-401del (n.788-508_788-401del)
c.410-508_410-401del (n.410-508_410-401del)
c.413-508_413-401del (n.413-508_413-401del)
c.5-27589_5-27482del (n.5-27589_5-27482del)
c.-43-17019_-43-16912del (n.-43-17019_-43-16912del)
c.-99+33731_-99+33838del (n.-99+33731_-99+33838del)
n.4127_4232+2del
n.4168_4273+2del
gnomAD v4
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.43091462_43091464delCA915950082BRCA1n.4135_4137del
c.4071_4073del (p.Glu1358del)
c.3945_3947del (p.Glu1316del)
c.4068_4070del (p.Glu1357del)
c.3993_3995del (p.Glu1332del)
c.785-428_785-426del (n.785-428_785-426del)
c.647-428_647-426del (n.647-428_647-426del)
c.3183_3185del (p.Glu1062del)
c.3948_3950del (p.Glu1317del)
c.3930_3932del (p.Glu1311del)
c.665-428_665-426del (n.665-428_665-426del)
c.707-428_707-426del (n.707-428_707-426del)
c.392_394del
c.671-428_671-426del (n.671-428_671-426del)
c.*3854_*3856del (n.*3854_*3856del)
c.365_367del
c.788-428_788-426del (n.788-428_788-426del)
c.410-428_410-426del (n.410-428_410-426del)
c.413-428_413-426del (n.413-428_413-426del)
c.5-27509_5-27507del (n.5-27509_5-27507del)
c.-43-16939_-43-16937del (n.-43-16939_-43-16937del)
c.-99+33811_-99+33813del (n.-99+33811_-99+33813del)
n.4207_4209del
n.4248_4250del
ClinVar dbSNP
17g.43091460_43091464delCA2573154018BRCA1n.4131_4135del
c.4067_4071del (p.Gln1356ArgfsTer10)
c.3941_3945del (p.Gln1314ArgfsTer10)
c.4064_4068del (p.Gln1355ArgfsTer10)
c.3989_3993del (p.Gln1330ArgfsTer10)
c.785-432_785-428del (n.785-432_785-428del)
c.647-432_647-428del (n.647-432_647-428del)
c.3179_3183del (p.Gln1060ArgfsTer10)
c.3944_3948del (p.Gln1315ArgfsTer10)
c.3926_3930del (p.Gln1309ArgfsTer10)
c.665-432_665-428del (n.665-432_665-428del)
c.707-432_707-428del (n.707-432_707-428del)
c.388_392del
c.671-432_671-428del (n.671-432_671-428del)
c.4067_4071del (p.Gln1356ArgfsTer23)
c.*3850_*3854del (n.*3850_*3854del)
c.361_365del
c.788-432_788-428del (n.788-432_788-428del)
c.410-432_410-428del (n.410-432_410-428del)
c.413-432_413-428del (n.413-432_413-428del)
c.5-27513_5-27509del (n.5-27513_5-27509del)
c.-43-16943_-43-16939del (n.-43-16943_-43-16939del)
c.-99+33807_-99+33811del (n.-99+33807_-99+33811del)
n.4203_4207del
n.4244_4248del
ClinVar dbSNP
17g.43091462_43091463insAATCCA658825031BRCA1n.4134_4135insTTGA
c.4070_4071insTTGA (p.Glu1357AspfsTer2)
c.3944_3945insTTGA (p.Glu1315AspfsTer2)
c.4067_4068insTTGA (p.Glu1356AspfsTer2)
c.3992_3993insTTGA (p.Glu1331AspfsTer2)
c.785-429_785-428insTTGA (n.785-429_785-428insTTGA)
c.647-429_647-428insTTGA (n.647-429_647-428insTTGA)
c.3182_3183insTTGA (p.Glu1061AspfsTer2)
c.3947_3948insTTGA (p.Glu1316AspfsTer2)
c.3929_3930insTTGA (p.Glu1310AspfsTer2)
c.665-429_665-428insTTGA (n.665-429_665-428insTTGA)
c.707-429_707-428insTTGA (n.707-429_707-428insTTGA)
c.391_392insTTGA
c.671-429_671-428insTTGA (n.671-429_671-428insTTGA)
c.*3853_*3854insTTGA (n.*3853_*3854insTTGA)
c.364_365insTTGA
c.788-429_788-428insTTGA (n.788-429_788-428insTTGA)
c.410-429_410-428insTTGA (n.410-429_410-428insTTGA)
c.413-429_413-428insTTGA (n.413-429_413-428insTTGA)
c.5-27510_5-27509insTTGA (n.5-27510_5-27509insTTGA)
c.-43-16940_-43-16939insTTGA (n.-43-16940_-43-16939insTTGA)
c.-99+33810_-99+33811insTTGA (n.-99+33810_-99+33811insTTGA)
n.4206_4207insTTGA
n.4247_4248insTTGA
ClinVar dbSNP
17g.43091461_43091463delinsTCTCA2260781937BRCA1n.4132_4134delinsAGA
c.4068_4070delinsAGA (p.Gln1356=)
c.3942_3944delinsAGA (p.Gln1314=)
c.4065_4067delinsAGA (p.Gln1355=)
c.3990_3992delinsAGA (p.Gln1330=)
c.785-431_785-429delinsAGA (n.785-431_785-429delinsAGA)
c.647-431_647-429delinsAGA (n.647-431_647-429delinsAGA)
c.3180_3182delinsAGA (p.Gln1060=)
c.3945_3947delinsAGA (p.Gln1315=)
c.3927_3929delinsAGA (p.Gln1309=)
c.665-431_665-429delinsAGA (n.665-431_665-429delinsAGA)
c.707-431_707-429delinsAGA (n.707-431_707-429delinsAGA)
c.389_391delinsAGA
c.671-431_671-429delinsAGA (n.671-431_671-429delinsAGA)
c.*3851_*3853delinsAGA (n.*3851_*3853delinsAGA)
c.362_364delinsAGA
c.788-431_788-429delinsAGA (n.788-431_788-429delinsAGA)
c.410-431_410-429delinsAGA (n.410-431_410-429delinsAGA)
c.413-431_413-429delinsAGA (n.413-431_413-429delinsAGA)
c.5-27512_5-27510delinsAGA (n.5-27512_5-27510delinsAGA)
c.-43-16942_-43-16940delinsAGA (n.-43-16942_-43-16940delinsAGA)
c.-99+33808_-99+33810delinsAGA (n.-99+33808_-99+33810delinsAGA)
n.4204_4206delinsAGA
n.4245_4247delinsAGA
17g.43091461_43091465delinsTCTTGCA2260781939BRCA1n.4130_4134delinsCAAGA
c.4066_4070delinsCAAGA (p.Gln1356=)
c.3940_3944delinsCAAGA (p.Gln1314=)
c.4063_4067delinsCAAGA (p.Gln1355=)
c.3988_3992delinsCAAGA (p.Gln1330=)
c.785-433_785-429delinsCAAGA (n.785-433_785-429delinsCAAGA)
c.647-433_647-429delinsCAAGA (n.647-433_647-429delinsCAAGA)
c.3178_3182delinsCAAGA (p.Gln1060=)
c.3943_3947delinsCAAGA (p.Gln1315=)
c.3925_3929delinsCAAGA (p.Gln1309=)
c.665-433_665-429delinsCAAGA (n.665-433_665-429delinsCAAGA)
c.707-433_707-429delinsCAAGA (n.707-433_707-429delinsCAAGA)
c.387_391delinsCAAGA
c.671-433_671-429delinsCAAGA (n.671-433_671-429delinsCAAGA)
c.*3849_*3853delinsCAAGA (n.*3849_*3853delinsCAAGA)
c.360_364delinsCAAGA
c.788-433_788-429delinsCAAGA (n.788-433_788-429delinsCAAGA)
c.410-433_410-429delinsCAAGA (n.410-433_410-429delinsCAAGA)
c.413-433_413-429delinsCAAGA (n.413-433_413-429delinsCAAGA)
c.5-27514_5-27510delinsCAAGA (n.5-27514_5-27510delinsCAAGA)
c.-43-16944_-43-16940delinsCAAGA (n.-43-16944_-43-16940delinsCAAGA)
c.-99+33806_-99+33810delinsCAAGA (n.-99+33806_-99+33810delinsCAAGA)
n.4202_4206delinsCAAGA
n.4243_4247delinsCAAGA
17g.43091462C>ACA10589695BRCA1n.4133G>T
c.4069G>T (p.Glu1357Ter)
c.3943G>T (p.Glu1315Ter)
c.4066G>T (p.Glu1356Ter)
c.3991G>T (p.Glu1331Ter)
c.785-430G>T (n.785-430G>T)
c.647-430G>T (n.647-430G>T)
c.3181G>T (p.Glu1061Ter)
c.3946G>T (p.Glu1316Ter)
c.3928G>T (p.Glu1310Ter)
c.665-430G>T (n.665-430G>T)
c.707-430G>T (n.707-430G>T)
c.390G>T
c.671-430G>T (n.671-430G>T)
c.*3852G>T (n.*3852G>T)
c.363G>T
c.788-430G>T (n.788-430G>T)
c.410-430G>T (n.410-430G>T)
c.413-430G>T (n.413-430G>T)
c.5-27511G>T (n.5-27511G>T)
c.-43-16941G>T (n.-43-16941G>T)
c.-99+33809G>T (n.-99+33809G>T)
n.4205G>T
n.4246G>T
ClinVar dbSNP
17g.43091462C=CA2260781940BRCA1n.4133G=
c.4069G= (p.Glu1357=)
c.3943G= (p.Glu1315=)
c.4066G= (p.Glu1356=)
c.3991G= (p.Glu1331=)
c.785-430G= (n.785-430G=)
c.647-430G= (n.647-430G=)
c.3181G= (p.Glu1061=)
c.3946G= (p.Glu1316=)
c.3928G= (p.Glu1310=)
c.665-430G= (n.665-430G=)
c.707-430G= (n.707-430G=)
c.390G=
c.671-430G= (n.671-430G=)
c.*3852G= (n.*3852G=)
c.363G=
c.788-430G= (n.788-430G=)
c.410-430G= (n.410-430G=)
c.413-430G= (n.413-430G=)
c.5-27511G= (n.5-27511G=)
c.-43-16941G= (n.-43-16941G=)
c.-99+33809G= (n.-99+33809G=)
n.4205G=
n.4246G=
17g.43091462C>GCA10593821BRCA1n.4133G>C
c.4069G>C (p.Glu1357Gln)
c.3943G>C (p.Glu1315Gln)
c.4066G>C (p.Glu1356Gln)
c.3991G>C (p.Glu1331Gln)
c.785-430G>C (n.785-430G>C)
c.647-430G>C (n.647-430G>C)
c.3181G>C (p.Glu1061Gln)
c.3946G>C (p.Glu1316Gln)
c.3928G>C (p.Glu1310Gln)
c.665-430G>C (n.665-430G>C)
c.707-430G>C (n.707-430G>C)
c.390G>C
c.671-430G>C (n.671-430G>C)
c.*3852G>C (n.*3852G>C)
c.363G>C
c.788-430G>C (n.788-430G>C)
c.410-430G>C (n.410-430G>C)
c.413-430G>C (n.413-430G>C)
c.5-27511G>C (n.5-27511G>C)
c.-43-16941G>C (n.-43-16941G>C)
c.-99+33809G>C (n.-99+33809G>C)
n.4205G>C
n.4246G>C
ClinVar dbSNP
17g.43091462C>TCA10593822BRCA1n.4133G>A
c.4069G>A (p.Glu1357Lys)
c.3943G>A (p.Glu1315Lys)
c.4066G>A (p.Glu1356Lys)
c.3991G>A (p.Glu1331Lys)
c.785-430G>A (n.785-430G>A)
c.647-430G>A (n.647-430G>A)
c.3181G>A (p.Glu1061Lys)
c.3946G>A (p.Glu1316Lys)
c.3928G>A (p.Glu1310Lys)
c.665-430G>A (n.665-430G>A)
c.707-430G>A (n.707-430G>A)
c.390G>A
c.671-430G>A (n.671-430G>A)
c.*3852G>A (n.*3852G>A)
c.363G>A
c.788-430G>A (n.788-430G>A)
c.410-430G>A (n.410-430G>A)
c.413-430G>A (n.413-430G>A)
c.5-27511G>A (n.5-27511G>A)
c.-43-16941G>A (n.-43-16941G>A)
c.-99+33809G>A (n.-99+33809G>A)
n.4205G>A
n.4246G>A
dbSNP
17g.43091462_43091463delinsACA1139665606BRCA1n.4132_4133delinsT
c.4068_4069delinsT (p.Gln1356HisfsTer10)
c.3942_3943delinsT (p.Gln1314HisfsTer10)
c.4065_4066delinsT (p.Gln1355HisfsTer10)
c.3990_3991delinsT (p.Gln1330HisfsTer10)
c.785-431_785-430delinsT (n.785-431_785-430delinsT)
c.647-431_647-430delinsT (n.647-431_647-430delinsT)
c.3180_3181delinsT (p.Gln1060HisfsTer10)
c.3945_3946delinsT (p.Gln1315HisfsTer10)
c.3927_3928delinsT (p.Gln1309HisfsTer10)
c.665-431_665-430delinsT (n.665-431_665-430delinsT)
c.707-431_707-430delinsT (n.707-431_707-430delinsT)
c.389_390delinsT
c.671-431_671-430delinsT (n.671-431_671-430delinsT)
c.*3851_*3852delinsT (n.*3851_*3852delinsT)
c.362_363delinsT
c.788-431_788-430delinsT (n.788-431_788-430delinsT)
c.410-431_410-430delinsT (n.410-431_410-430delinsT)
c.413-431_413-430delinsT (n.413-431_413-430delinsT)
c.5-27512_5-27511delinsT (n.5-27512_5-27511delinsT)
c.-43-16942_-43-16941delinsT (n.-43-16942_-43-16941delinsT)
c.-99+33808_-99+33809delinsT (n.-99+33808_-99+33809delinsT)
n.4204_4205delinsT
n.4245_4246delinsT
ClinVar dbSNP
17g.43091462_43091465delCA002598BRCA1n.4130_4133del
c.4066_4069del (p.Gln1356LysfsTer9)
c.3940_3943del (p.Gln1314LysfsTer9)
c.4063_4066del (p.Gln1355LysfsTer9)
c.3988_3991del (p.Gln1330LysfsTer9)
c.785-433_785-430del (n.785-433_785-430del)
c.647-433_647-430del (n.647-433_647-430del)
c.3178_3181del (p.Gln1060LysfsTer9)
c.3943_3946del (p.Gln1315LysfsTer9)
c.3925_3928del (p.Gln1309LysfsTer9)
c.665-433_665-430del (n.665-433_665-430del)
c.707-433_707-430del (n.707-433_707-430del)
c.387_390del
c.671-433_671-430del (n.671-433_671-430del)
c.*3849_*3852del (n.*3849_*3852del)
c.360_363del
c.788-433_788-430del (n.788-433_788-430del)
c.410-433_410-430del (n.410-433_410-430del)
c.413-433_413-430del (n.413-433_413-430del)
c.5-27514_5-27511del (n.5-27514_5-27511del)
c.-43-16944_-43-16941del (n.-43-16944_-43-16941del)
c.-99+33806_-99+33809del (n.-99+33806_-99+33809del)
n.4202_4205del
n.4243_4246del
ClinVar dbSNP
17g.43091462_43091466delinsCTTGACA2260781942BRCA1n.4129_4133delinsTCAAG
c.4065_4069delinsTCAAG (p.Asn1355=)
c.3939_3943delinsTCAAG (p.Asn1313=)
c.4062_4066delinsTCAAG (p.Asn1354=)
c.3987_3991delinsTCAAG (p.Asn1329=)
c.785-434_785-430delinsTCAAG (n.785-434_785-430delinsTCAAG)
c.647-434_647-430delinsTCAAG (n.647-434_647-430delinsTCAAG)
c.3177_3181delinsTCAAG (p.Asn1059=)
c.3942_3946delinsTCAAG (p.Asn1314=)
c.3924_3928delinsTCAAG (p.Asn1308=)
c.665-434_665-430delinsTCAAG (n.665-434_665-430delinsTCAAG)
c.707-434_707-430delinsTCAAG (n.707-434_707-430delinsTCAAG)
c.386_390delinsTCAAG
c.671-434_671-430delinsTCAAG (n.671-434_671-430delinsTCAAG)
c.*3848_*3852delinsTCAAG (n.*3848_*3852delinsTCAAG)
c.359_363delinsTCAAG
c.788-434_788-430delinsTCAAG (n.788-434_788-430delinsTCAAG)
c.410-434_410-430delinsTCAAG (n.410-434_410-430delinsTCAAG)
c.413-434_413-430delinsTCAAG (n.413-434_413-430delinsTCAAG)
c.5-27515_5-27511delinsTCAAG (n.5-27515_5-27511delinsTCAAG)
c.-43-16945_-43-16941delinsTCAAG (n.-43-16945_-43-16941delinsTCAAG)
c.-99+33805_-99+33809delinsTCAAG (n.-99+33805_-99+33809delinsTCAAG)
n.4201_4205delinsTCAAG
n.4242_4246delinsTCAAG
17g.43091462_43091469delinsCTTGATTACA2260781941BRCA1n.4126_4133delinsTAATCAAG
c.4062_4069delinsTAATCAAG (p.Asn1354=)
c.3936_3943delinsTAATCAAG (p.Asn1312=)
c.4059_4066delinsTAATCAAG (p.Asn1353=)
c.3984_3991delinsTAATCAAG (p.Asn1328=)
c.785-437_785-430delinsTAATCAAG (n.785-437_785-430delinsTAATCAAG)
c.647-437_647-430delinsTAATCAAG (n.647-437_647-430delinsTAATCAAG)
c.3174_3181delinsTAATCAAG (p.Asn1058=)
c.3939_3946delinsTAATCAAG (p.Asn1313=)
c.3921_3928delinsTAATCAAG (p.Asn1307=)
c.665-437_665-430delinsTAATCAAG (n.665-437_665-430delinsTAATCAAG)
c.707-437_707-430delinsTAATCAAG (n.707-437_707-430delinsTAATCAAG)
c.383_390delinsTAATCAAG
c.671-437_671-430delinsTAATCAAG (n.671-437_671-430delinsTAATCAAG)
c.*3845_*3852delinsTAATCAAG (n.*3845_*3852delinsTAATCAAG)
c.356_363delinsTAATCAAG
c.788-437_788-430delinsTAATCAAG (n.788-437_788-430delinsTAATCAAG)
c.410-437_410-430delinsTAATCAAG (n.410-437_410-430delinsTAATCAAG)
c.413-437_413-430delinsTAATCAAG (n.413-437_413-430delinsTAATCAAG)
c.5-27518_5-27511delinsTAATCAAG (n.5-27518_5-27511delinsTAATCAAG)
c.-43-16948_-43-16941delinsTAATCAAG (n.-43-16948_-43-16941delinsTAATCAAG)
c.-99+33802_-99+33809delinsTAATCAAG (n.-99+33802_-99+33809delinsTAATCAAG)
n.4198_4205delinsTAATCAAG
n.4239_4246delinsTAATCAAG
17g.43091463T>ACA10593823BRCA1n.4132A>T
c.4068A>T (p.Gln1356His)
c.3942A>T (p.Gln1314His)
c.4065A>T (p.Gln1355His)
c.3990A>T (p.Gln1330His)
c.785-431A>T (n.785-431A>T)
c.647-431A>T (n.647-431A>T)
c.3180A>T (p.Gln1060His)
c.3945A>T (p.Gln1315His)
c.3927A>T (p.Gln1309His)
c.665-431A>T (n.665-431A>T)
c.707-431A>T (n.707-431A>T)
c.389A>T
c.671-431A>T (n.671-431A>T)
c.*3851A>T (n.*3851A>T)
c.362A>T
c.788-431A>T (n.788-431A>T)
c.410-431A>T (n.410-431A>T)
c.413-431A>T (n.413-431A>T)
c.5-27512A>T (n.5-27512A>T)
c.-43-16942A>T (n.-43-16942A>T)
c.-99+33808A>T (n.-99+33808A>T)
n.4204A>T
n.4245A>T
dbSNP
17g.43091463T>CCA500231980BRCA1n.4132A>G
c.4068A>G (p.Gln1356=)
c.3942A>G (p.Gln1314=)
c.4065A>G (p.Gln1355=)
c.3990A>G (p.Gln1330=)
c.785-431A>G (n.785-431A>G)
c.647-431A>G (n.647-431A>G)
c.3180A>G (p.Gln1060=)
c.3945A>G (p.Gln1315=)
c.3927A>G (p.Gln1309=)
c.665-431A>G (n.665-431A>G)
c.707-431A>G (n.707-431A>G)
c.389A>G
c.671-431A>G (n.671-431A>G)
c.*3851A>G (n.*3851A>G)
c.362A>G
c.788-431A>G (n.788-431A>G)
c.410-431A>G (n.410-431A>G)
c.413-431A>G (n.413-431A>G)
c.5-27512A>G (n.5-27512A>G)
c.-43-16942A>G (n.-43-16942A>G)
c.-99+33808A>G (n.-99+33808A>G)
n.4204A>G
n.4245A>G
gnomAD v4
17g.43091463T>GCA10593824BRCA1n.4132A>C
c.4068A>C (p.Gln1356His)
c.3942A>C (p.Gln1314His)
c.4065A>C (p.Gln1355His)
c.3990A>C (p.Gln1330His)
c.785-431A>C (n.785-431A>C)
c.647-431A>C (n.647-431A>C)
c.3180A>C (p.Gln1060His)
c.3945A>C (p.Gln1315His)
c.3927A>C (p.Gln1309His)
c.665-431A>C (n.665-431A>C)
c.707-431A>C (n.707-431A>C)
c.389A>C
c.671-431A>C (n.671-431A>C)
c.*3851A>C (n.*3851A>C)
c.362A>C
c.788-431A>C (n.788-431A>C)
c.410-431A>C (n.410-431A>C)
c.413-431A>C (n.413-431A>C)
c.5-27512A>C (n.5-27512A>C)
c.-43-16942A>C (n.-43-16942A>C)
c.-99+33808A>C (n.-99+33808A>C)
n.4204A>C
n.4245A>C
17g.43091465_43091468delCA026492BRCA1n.4129_4132del
c.4065_4068del (p.Asn1355LysfsTer10)
c.3939_3942del (p.Asn1313LysfsTer10)
c.4062_4065del (p.Asn1354LysfsTer10)
c.3987_3990del (p.Asn1329LysfsTer10)
c.785-434_785-431del (n.785-434_785-431del)
c.647-434_647-431del (n.647-434_647-431del)
c.3177_3180del (p.Asn1059LysfsTer10)
c.3942_3945del (p.Asn1314LysfsTer10)
c.3924_3927del (p.Asn1308LysfsTer10)
c.665-434_665-431del (n.665-434_665-431del)
c.707-434_707-431del (n.707-434_707-431del)
c.386_389del
c.671-434_671-431del (n.671-434_671-431del)
c.*3848_*3851del (n.*3848_*3851del)
c.359_362del
c.788-434_788-431del (n.788-434_788-431del)
c.410-434_410-431del (n.410-434_410-431del)
c.413-434_413-431del (n.413-434_413-431del)
c.5-27515_5-27512del (n.5-27515_5-27512del)
c.-43-16945_-43-16942del (n.-43-16945_-43-16942del)
c.-99+33805_-99+33808del (n.-99+33805_-99+33808del)
n.4201_4204del
n.4242_4245del
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43091465_43091471delCA002594BRCA1n.4126_4132del
c.4062_4068del (p.Asn1354LysfsTer10)
c.3936_3942del (p.Asn1312LysfsTer10)
c.4059_4065del (p.Asn1353LysfsTer10)
c.3984_3990del (p.Asn1328LysfsTer10)
c.785-437_785-431del (n.785-437_785-431del)
c.647-437_647-431del (n.647-437_647-431del)
c.3174_3180del (p.Asn1058LysfsTer10)
c.3939_3945del (p.Asn1313LysfsTer10)
c.3921_3927del (p.Asn1307LysfsTer10)
c.665-437_665-431del (n.665-437_665-431del)
c.707-437_707-431del (n.707-437_707-431del)
c.383_389del
c.671-437_671-431del (n.671-437_671-431del)
c.*3845_*3851del (n.*3845_*3851del)
c.356_362del
c.788-437_788-431del (n.788-437_788-431del)
c.410-437_410-431del (n.410-437_410-431del)
c.413-437_413-431del (n.413-437_413-431del)
c.5-27518_5-27512del (n.5-27518_5-27512del)
c.-43-16948_-43-16942del (n.-43-16948_-43-16942del)
c.-99+33802_-99+33808del (n.-99+33802_-99+33808del)
n.4198_4204del
n.4239_4245del
ClinVar dbSNP
17g.43091464T>ACA10593825BRCA1n.4131A>T
c.4067A>T (p.Gln1356Leu)
c.3941A>T (p.Gln1314Leu)
c.4064A>T (p.Gln1355Leu)
c.3989A>T (p.Gln1330Leu)
c.785-432A>T (n.785-432A>T)
c.647-432A>T (n.647-432A>T)
c.3179A>T (p.Gln1060Leu)
c.3944A>T (p.Gln1315Leu)
c.3926A>T (p.Gln1309Leu)
c.665-432A>T (n.665-432A>T)
c.707-432A>T (n.707-432A>T)
c.388A>T
c.671-432A>T (n.671-432A>T)
c.*3850A>T (n.*3850A>T)
c.361A>T
c.788-432A>T (n.788-432A>T)
c.410-432A>T (n.410-432A>T)
c.413-432A>T (n.413-432A>T)
c.5-27513A>T (n.5-27513A>T)
c.-43-16943A>T (n.-43-16943A>T)
c.-99+33807A>T (n.-99+33807A>T)
n.4203A>T
n.4244A>T
ClinVar dbSNP
17g.43091464T>CCA10593826BRCA1n.4131A>G
c.4067A>G (p.Gln1356Arg)
c.3941A>G (p.Gln1314Arg)
c.4064A>G (p.Gln1355Arg)
c.3989A>G (p.Gln1330Arg)
c.785-432A>G (n.785-432A>G)
c.647-432A>G (n.647-432A>G)
c.3179A>G (p.Gln1060Arg)
c.3944A>G (p.Gln1315Arg)
c.3926A>G (p.Gln1309Arg)
c.665-432A>G (n.665-432A>G)
c.707-432A>G (n.707-432A>G)
c.388A>G
c.671-432A>G (n.671-432A>G)
c.*3850A>G (n.*3850A>G)
c.361A>G
c.788-432A>G (n.788-432A>G)
c.410-432A>G (n.410-432A>G)
c.413-432A>G (n.413-432A>G)
c.5-27513A>G (n.5-27513A>G)
c.-43-16943A>G (n.-43-16943A>G)
c.-99+33807A>G (n.-99+33807A>G)
n.4203A>G
n.4244A>G
dbSNP
17g.43091464T>GCA10593827BRCA1n.4131A>C
c.4067A>C (p.Gln1356Pro)
c.3941A>C (p.Gln1314Pro)
c.4064A>C (p.Gln1355Pro)
c.3989A>C (p.Gln1330Pro)
c.785-432A>C (n.785-432A>C)
c.647-432A>C (n.647-432A>C)
c.3179A>C (p.Gln1060Pro)
c.3944A>C (p.Gln1315Pro)
c.3926A>C (p.Gln1309Pro)
c.665-432A>C (n.665-432A>C)
c.707-432A>C (n.707-432A>C)
c.388A>C
c.671-432A>C (n.671-432A>C)
c.*3850A>C (n.*3850A>C)
c.361A>C
c.788-432A>C (n.788-432A>C)
c.410-432A>C (n.410-432A>C)
c.413-432A>C (n.413-432A>C)
c.5-27513A>C (n.5-27513A>C)
c.-43-16943A>C (n.-43-16943A>C)
c.-99+33807A>C (n.-99+33807A>C)
n.4203A>C
n.4244A>C
gnomAD v4
17g.43091464_43091465delinsTGCA2260781944BRCA1n.4130_4131delinsCA
c.4066_4067delinsCA (p.Gln1356=)
c.3940_3941delinsCA (p.Gln1314=)
c.4063_4064delinsCA (p.Gln1355=)
c.3988_3989delinsCA (p.Gln1330=)
c.785-433_785-432delinsCA (n.785-433_785-432delinsCA)
c.647-433_647-432delinsCA (n.647-433_647-432delinsCA)
c.3178_3179delinsCA (p.Gln1060=)
c.3943_3944delinsCA (p.Gln1315=)
c.3925_3926delinsCA (p.Gln1309=)
c.665-433_665-432delinsCA (n.665-433_665-432delinsCA)
c.707-433_707-432delinsCA (n.707-433_707-432delinsCA)
c.387_388delinsCA
c.671-433_671-432delinsCA (n.671-433_671-432delinsCA)
c.*3849_*3850delinsCA (n.*3849_*3850delinsCA)
c.360_361delinsCA
c.788-433_788-432delinsCA (n.788-433_788-432delinsCA)
c.410-433_410-432delinsCA (n.410-433_410-432delinsCA)
c.413-433_413-432delinsCA (n.413-433_413-432delinsCA)
c.5-27514_5-27513delinsCA (n.5-27514_5-27513delinsCA)
c.-43-16944_-43-16943delinsCA (n.-43-16944_-43-16943delinsCA)
c.-99+33806_-99+33807delinsCA (n.-99+33806_-99+33807delinsCA)
n.4202_4203delinsCA
n.4243_4244delinsCA
17g.43091464_43091467delinsTGATCA2260781945BRCA1n.4128_4131delinsATCA
c.4064_4067delinsATCA (p.Asn1355=)
c.3938_3941delinsATCA (p.Asn1313=)
c.4061_4064delinsATCA (p.Asn1354=)
c.3986_3989delinsATCA (p.Asn1329=)
c.785-435_785-432delinsATCA (n.785-435_785-432delinsATCA)
c.647-435_647-432delinsATCA (n.647-435_647-432delinsATCA)
c.3176_3179delinsATCA (p.Asn1059=)
c.3941_3944delinsATCA (p.Asn1314=)
c.3923_3926delinsATCA (p.Asn1308=)
c.665-435_665-432delinsATCA (n.665-435_665-432delinsATCA)
c.707-435_707-432delinsATCA (n.707-435_707-432delinsATCA)
c.385_388delinsATCA
c.671-435_671-432delinsATCA (n.671-435_671-432delinsATCA)
c.*3847_*3850delinsATCA (n.*3847_*3850delinsATCA)
c.358_361delinsATCA
c.788-435_788-432delinsATCA (n.788-435_788-432delinsATCA)
c.410-435_410-432delinsATCA (n.410-435_410-432delinsATCA)
c.413-435_413-432delinsATCA (n.413-435_413-432delinsATCA)
c.5-27516_5-27513delinsATCA (n.5-27516_5-27513delinsATCA)
c.-43-16946_-43-16943delinsATCA (n.-43-16946_-43-16943delinsATCA)
c.-99+33804_-99+33807delinsATCA (n.-99+33804_-99+33807delinsATCA)
n.4200_4203delinsATCA
n.4241_4244delinsATCA
17g.43091464_43091469delinsTGATTACA2260781943BRCA1n.4126_4131delinsTAATCA
c.4062_4067delinsTAATCA (p.Asn1354=)
c.3936_3941delinsTAATCA (p.Asn1312=)
c.4059_4064delinsTAATCA (p.Asn1353=)
c.3984_3989delinsTAATCA (p.Asn1328=)
c.785-437_785-432delinsTAATCA (n.785-437_785-432delinsTAATCA)
c.647-437_647-432delinsTAATCA (n.647-437_647-432delinsTAATCA)
c.3174_3179delinsTAATCA (p.Asn1058=)
c.3939_3944delinsTAATCA (p.Asn1313=)
c.3921_3926delinsTAATCA (p.Asn1307=)
c.665-437_665-432delinsTAATCA (n.665-437_665-432delinsTAATCA)
c.707-437_707-432delinsTAATCA (n.707-437_707-432delinsTAATCA)
c.383_388delinsTAATCA
c.671-437_671-432delinsTAATCA (n.671-437_671-432delinsTAATCA)
c.*3845_*3850delinsTAATCA (n.*3845_*3850delinsTAATCA)
c.356_361delinsTAATCA
c.788-437_788-432delinsTAATCA (n.788-437_788-432delinsTAATCA)
c.410-437_410-432delinsTAATCA (n.410-437_410-432delinsTAATCA)
c.413-437_413-432delinsTAATCA (n.413-437_413-432delinsTAATCA)
c.5-27518_5-27513delinsTAATCA (n.5-27518_5-27513delinsTAATCA)
c.-43-16948_-43-16943delinsTAATCA (n.-43-16948_-43-16943delinsTAATCA)
c.-99+33802_-99+33807delinsTAATCA (n.-99+33802_-99+33807delinsTAATCA)
n.4198_4203delinsTAATCA
n.4239_4244delinsTAATCA
17g.43091465delCA10589698BRCA1n.4130del
c.4066del (p.Gln1356LysfsTer10)
c.3940del (p.Gln1314LysfsTer10)
c.4063del (p.Gln1355LysfsTer10)
c.3988del (p.Gln1330LysfsTer10)
c.785-433del (n.785-433del)
c.647-433del (n.647-433del)
c.3178del (p.Gln1060LysfsTer10)
c.3943del (p.Gln1315LysfsTer10)
c.3925del (p.Gln1309LysfsTer10)
c.665-433del (n.665-433del)
c.707-433del (n.707-433del)
c.387del
c.671-433del (n.671-433del)
c.*3849del (n.*3849del)
c.360del
c.788-433del (n.788-433del)
c.410-433del (n.410-433del)
c.413-433del (n.413-433del)
c.5-27514del (n.5-27514del)
c.-43-16944del (n.-43-16944del)
c.-99+33806del (n.-99+33806del)
n.4202del
n.4243del
ClinVar dbSNP
17g.43091465G>ACA10589696BRCA1n.4130C>T
c.4066C>T (p.Gln1356Ter)
c.3940C>T (p.Gln1314Ter)
c.4063C>T (p.Gln1355Ter)
c.3988C>T (p.Gln1330Ter)
c.785-433C>T (n.785-433C>T)
c.647-433C>T (n.647-433C>T)
c.3178C>T (p.Gln1060Ter)
c.3943C>T (p.Gln1315Ter)
c.3925C>T (p.Gln1309Ter)
c.665-433C>T (n.665-433C>T)
c.707-433C>T (n.707-433C>T)
c.387C>T
c.671-433C>T (n.671-433C>T)
c.*3849C>T (n.*3849C>T)
c.360C>T
c.788-433C>T (n.788-433C>T)
c.410-433C>T (n.410-433C>T)
c.413-433C>T (n.413-433C>T)
c.5-27514C>T (n.5-27514C>T)
c.-43-16944C>T (n.-43-16944C>T)
c.-99+33806C>T (n.-99+33806C>T)
n.4202C>T
n.4243C>T
ClinVar dbSNP
17g.43091465G>CCA10593828BRCA1n.4130C>G
c.4066C>G (p.Gln1356Glu)
c.3940C>G (p.Gln1314Glu)
c.4063C>G (p.Gln1355Glu)
c.3988C>G (p.Gln1330Glu)
c.785-433C>G (n.785-433C>G)
c.647-433C>G (n.647-433C>G)
c.3178C>G (p.Gln1060Glu)
c.3943C>G (p.Gln1315Glu)
c.3925C>G (p.Gln1309Glu)
c.665-433C>G (n.665-433C>G)
c.707-433C>G (n.707-433C>G)
c.387C>G
c.671-433C>G (n.671-433C>G)
c.*3849C>G (n.*3849C>G)
c.360C>G
c.788-433C>G (n.788-433C>G)
c.410-433C>G (n.410-433C>G)
c.413-433C>G (n.413-433C>G)
c.5-27514C>G (n.5-27514C>G)
c.-43-16944C>G (n.-43-16944C>G)
c.-99+33806C>G (n.-99+33806C>G)
n.4202C>G
n.4243C>G
dbSNP
17g.43091465G=CA2260781946BRCA1n.4130C=
c.4066C= (p.Gln1356=)
c.3940C= (p.Gln1314=)
c.4063C= (p.Gln1355=)
c.3988C= (p.Gln1330=)
c.785-433C= (n.785-433C=)
c.647-433C= (n.647-433C=)
c.3178C= (p.Gln1060=)
c.3943C= (p.Gln1315=)
c.3925C= (p.Gln1309=)
c.665-433C= (n.665-433C=)
c.707-433C= (n.707-433C=)
c.387C=
c.671-433C= (n.671-433C=)
c.*3849C= (n.*3849C=)
c.360C=
c.788-433C= (n.788-433C=)
c.410-433C= (n.410-433C=)
c.413-433C= (n.413-433C=)
c.5-27514C= (n.5-27514C=)
c.-43-16944C= (n.-43-16944C=)
c.-99+33806C= (n.-99+33806C=)
n.4202C=
n.4243C=
17g.43091465G>TCA10593829BRCA1n.4130C>A
c.4066C>A (p.Gln1356Lys)
c.3940C>A (p.Gln1314Lys)
c.4063C>A (p.Gln1355Lys)
c.3988C>A (p.Gln1330Lys)
c.785-433C>A (n.785-433C>A)
c.647-433C>A (n.647-433C>A)
c.3178C>A (p.Gln1060Lys)
c.3943C>A (p.Gln1315Lys)
c.3925C>A (p.Gln1309Lys)
c.665-433C>A (n.665-433C>A)
c.707-433C>A (n.707-433C>A)
c.387C>A
c.671-433C>A (n.671-433C>A)
c.*3849C>A (n.*3849C>A)
c.360C>A
c.788-433C>A (n.788-433C>A)
c.410-433C>A (n.410-433C>A)
c.413-433C>A (n.413-433C>A)
c.5-27514C>A (n.5-27514C>A)
c.-43-16944C>A (n.-43-16944C>A)
c.-99+33806C>A (n.-99+33806C>A)
n.4202C>A
n.4243C>A
ClinVar dbSNP
17g.43091465_43091467delinsACA16615383BRCA1n.4128_4130delinsT
c.4064_4066delinsT (p.Asn1355IlefsTer12)
c.3938_3940delinsT (p.Asn1313IlefsTer12)
c.4061_4063delinsT (p.Asn1354IlefsTer12)
c.3986_3988delinsT (p.Asn1329IlefsTer12)
c.785-435_785-433delinsT (n.785-435_785-433delinsT)
c.647-435_647-433delinsT (n.647-435_647-433delinsT)
c.3176_3178delinsT (p.Asn1059IlefsTer12)
c.3941_3943delinsT (p.Asn1314IlefsTer12)
c.3923_3925delinsT (p.Asn1308IlefsTer12)
c.665-435_665-433delinsT (n.665-435_665-433delinsT)
c.707-435_707-433delinsT (n.707-435_707-433delinsT)
c.385_387delinsT
c.671-435_671-433delinsT (n.671-435_671-433delinsT)
c.4064_4066delinsT (p.Asn1355IlefsTer25)
c.*3847_*3849delinsT (n.*3847_*3849delinsT)
c.358_360delinsT
c.788-435_788-433delinsT (n.788-435_788-433delinsT)
c.410-435_410-433delinsT (n.410-435_410-433delinsT)
c.413-435_413-433delinsT (n.413-435_413-433delinsT)
c.5-27516_5-27514delinsT (n.5-27516_5-27514delinsT)
c.-43-16946_-43-16944delinsT (n.-43-16946_-43-16944delinsT)
c.-99+33804_-99+33806delinsT (n.-99+33804_-99+33806delinsT)
n.4200_4202delinsT
n.4241_4243delinsT
ClinVar dbSNP
17g.43091465_43091468delinsGATTCA2260781948BRCA1n.4127_4130delinsAATC
c.4063_4066delinsAATC (p.Asn1355=)
c.3937_3940delinsAATC (p.Asn1313=)
c.4060_4063delinsAATC (p.Asn1354=)
c.3985_3988delinsAATC (p.Asn1329=)
c.785-436_785-433delinsAATC (n.785-436_785-433delinsAATC)
c.647-436_647-433delinsAATC (n.647-436_647-433delinsAATC)
c.3175_3178delinsAATC (p.Asn1059=)
c.3940_3943delinsAATC (p.Asn1314=)
c.3922_3925delinsAATC (p.Asn1308=)
c.665-436_665-433delinsAATC (n.665-436_665-433delinsAATC)
c.707-436_707-433delinsAATC (n.707-436_707-433delinsAATC)
c.384_387delinsAATC
c.671-436_671-433delinsAATC (n.671-436_671-433delinsAATC)
c.*3846_*3849delinsAATC (n.*3846_*3849delinsAATC)
c.357_360delinsAATC
c.788-436_788-433delinsAATC (n.788-436_788-433delinsAATC)
c.410-436_410-433delinsAATC (n.410-436_410-433delinsAATC)
c.413-436_413-433delinsAATC (n.413-436_413-433delinsAATC)
c.5-27517_5-27514delinsAATC (n.5-27517_5-27514delinsAATC)
c.-43-16947_-43-16944delinsAATC (n.-43-16947_-43-16944delinsAATC)
c.-99+33803_-99+33806delinsAATC (n.-99+33803_-99+33806delinsAATC)
n.4199_4202delinsAATC
n.4240_4243delinsAATC
17g.43091465_43091469delCA10589697BRCA1n.4126_4130del
c.4062_4066del (p.Asn1354LysfsTer12)
c.3936_3940del (p.Asn1312LysfsTer12)
c.4059_4063del (p.Asn1353LysfsTer12)
c.3984_3988del (p.Asn1328LysfsTer12)
c.785-437_785-433del (n.785-437_785-433del)
c.647-437_647-433del (n.647-437_647-433del)
c.3174_3178del (p.Asn1058LysfsTer12)
c.3939_3943del (p.Asn1313LysfsTer12)
c.3921_3925del (p.Asn1307LysfsTer12)
c.665-437_665-433del (n.665-437_665-433del)
c.707-437_707-433del (n.707-437_707-433del)
c.383_387del
c.671-437_671-433del (n.671-437_671-433del)
c.4062_4066del (p.Asn1354LysfsTer25)
c.*3845_*3849del (n.*3845_*3849del)
c.356_360del
c.788-437_788-433del (n.788-437_788-433del)
c.410-437_410-433del (n.410-437_410-433del)
c.413-437_413-433del (n.413-437_413-433del)
c.5-27518_5-27514del (n.5-27518_5-27514del)
c.-43-16948_-43-16944del (n.-43-16948_-43-16944del)
c.-99+33802_-99+33806del (n.-99+33802_-99+33806del)
n.4198_4202del
n.4239_4243del
ClinVar dbSNP
17g.43091465_43091469delinsGATTACA2260781947BRCA1n.4126_4130delinsTAATC
c.4062_4066delinsTAATC (p.Asn1354=)
c.3936_3940delinsTAATC (p.Asn1312=)
c.4059_4063delinsTAATC (p.Asn1353=)
c.3984_3988delinsTAATC (p.Asn1328=)
c.785-437_785-433delinsTAATC (n.785-437_785-433delinsTAATC)
c.647-437_647-433delinsTAATC (n.647-437_647-433delinsTAATC)
c.3174_3178delinsTAATC (p.Asn1058=)
c.3939_3943delinsTAATC (p.Asn1313=)
c.3921_3925delinsTAATC (p.Asn1307=)
c.665-437_665-433delinsTAATC (n.665-437_665-433delinsTAATC)
c.707-437_707-433delinsTAATC (n.707-437_707-433delinsTAATC)
c.383_387delinsTAATC
c.671-437_671-433delinsTAATC (n.671-437_671-433delinsTAATC)
c.*3845_*3849delinsTAATC (n.*3845_*3849delinsTAATC)
c.356_360delinsTAATC
c.788-437_788-433delinsTAATC (n.788-437_788-433delinsTAATC)
c.410-437_410-433delinsTAATC (n.410-437_410-433delinsTAATC)
c.413-437_413-433delinsTAATC (n.413-437_413-433delinsTAATC)
c.5-27518_5-27514delinsTAATC (n.5-27518_5-27514delinsTAATC)
c.-43-16948_-43-16944delinsTAATC (n.-43-16948_-43-16944delinsTAATC)
c.-99+33802_-99+33806delinsTAATC (n.-99+33802_-99+33806delinsTAATC)
n.4198_4202delinsTAATC
n.4239_4243delinsTAATC
17g.43091465_43091466insGCACA2556619336BRCA1n.4129_4130insTGC
c.4065_4066insTGC (p.Asn1355_Gln1356insCys)
c.3939_3940insTGC (p.Asn1313_Gln1314insCys)
c.4062_4063insTGC (p.Asn1354_Gln1355insCys)
c.3987_3988insTGC (p.Asn1329_Gln1330insCys)
c.785-434_785-433insTGC (n.785-434_785-433insTGC)
c.647-434_647-433insTGC (n.647-434_647-433insTGC)
c.3177_3178insTGC (p.Asn1059_Gln1060insCys)
c.3942_3943insTGC (p.Asn1314_Gln1315insCys)
c.3924_3925insTGC (p.Asn1308_Gln1309insCys)
c.665-434_665-433insTGC (n.665-434_665-433insTGC)
c.707-434_707-433insTGC (n.707-434_707-433insTGC)
c.386_387insTGC
c.671-434_671-433insTGC (n.671-434_671-433insTGC)
c.*3848_*3849insTGC (n.*3848_*3849insTGC)
c.359_360insTGC
c.788-434_788-433insTGC (n.788-434_788-433insTGC)
c.410-434_410-433insTGC (n.410-434_410-433insTGC)
c.413-434_413-433insTGC (n.413-434_413-433insTGC)
c.5-27515_5-27514insTGC (n.5-27515_5-27514insTGC)
c.-43-16945_-43-16944insTGC (n.-43-16945_-43-16944insTGC)
c.-99+33805_-99+33806insTGC (n.-99+33805_-99+33806insTGC)
n.4201_4202insTGC
n.4242_4243insTGC
17g.43091466A=CA2260781949BRCA1n.4129T=
c.4065T= (p.Asn1355=)
c.3939T= (p.Asn1313=)
c.4062T= (p.Asn1354=)
c.3987T= (p.Asn1329=)
c.785-434T= (n.785-434T=)
c.647-434T= (n.647-434T=)
c.3177T= (p.Asn1059=)
c.3942T= (p.Asn1314=)
c.3924T= (p.Asn1308=)
c.665-434T= (n.665-434T=)
c.707-434T= (n.707-434T=)
c.386T=
c.671-434T= (n.671-434T=)
c.*3848T= (n.*3848T=)
c.359T=
c.788-434T= (n.788-434T=)
c.410-434T= (n.410-434T=)
c.413-434T= (n.413-434T=)
c.5-27515T= (n.5-27515T=)
c.-43-16945T= (n.-43-16945T=)
c.-99+33805T= (n.-99+33805T=)
n.4201T=
n.4242T=
17g.43091466A>CCA10593830BRCA1n.4129T>G
c.4065T>G (p.Asn1355Lys)
c.3939T>G (p.Asn1313Lys)
c.4062T>G (p.Asn1354Lys)
c.3987T>G (p.Asn1329Lys)
c.785-434T>G (n.785-434T>G)
c.647-434T>G (n.647-434T>G)
c.3177T>G (p.Asn1059Lys)
c.3942T>G (p.Asn1314Lys)
c.3924T>G (p.Asn1308Lys)
c.665-434T>G (n.665-434T>G)
c.707-434T>G (n.707-434T>G)
c.386T>G
c.671-434T>G (n.671-434T>G)
c.*3848T>G (n.*3848T>G)
c.359T>G
c.788-434T>G (n.788-434T>G)
c.410-434T>G (n.410-434T>G)
c.413-434T>G (n.413-434T>G)
c.5-27515T>G (n.5-27515T>G)
c.-43-16945T>G (n.-43-16945T>G)
c.-99+33805T>G (n.-99+33805T>G)
n.4201T>G
n.4242T>G
17g.43091466A>GCA500231981BRCA1n.4129T>C
c.4065T>C (p.Asn1355=)
c.3939T>C (p.Asn1313=)
c.4062T>C (p.Asn1354=)
c.3987T>C (p.Asn1329=)
c.785-434T>C (n.785-434T>C)
c.647-434T>C (n.647-434T>C)
c.3177T>C (p.Asn1059=)
c.3942T>C (p.Asn1314=)
c.3924T>C (p.Asn1308=)
c.665-434T>C (n.665-434T>C)
c.707-434T>C (n.707-434T>C)
c.386T>C
c.671-434T>C (n.671-434T>C)
c.*3848T>C (n.*3848T>C)
c.359T>C
c.788-434T>C (n.788-434T>C)
c.410-434T>C (n.410-434T>C)
c.413-434T>C (n.413-434T>C)
c.5-27515T>C (n.5-27515T>C)
c.-43-16945T>C (n.-43-16945T>C)
c.-99+33805T>C (n.-99+33805T>C)
n.4201T>C
n.4242T>C
gnomAD v4
17g.43091466A>TCA10593831BRCA1n.4129T>A
c.4065T>A (p.Asn1355Lys)
c.3939T>A (p.Asn1313Lys)
c.4062T>A (p.Asn1354Lys)
c.3987T>A (p.Asn1329Lys)
c.785-434T>A (n.785-434T>A)
c.647-434T>A (n.647-434T>A)
c.3177T>A (p.Asn1059Lys)
c.3942T>A (p.Asn1314Lys)
c.3924T>A (p.Asn1308Lys)
c.665-434T>A (n.665-434T>A)
c.707-434T>A (n.707-434T>A)
c.386T>A
c.671-434T>A (n.671-434T>A)
c.*3848T>A (n.*3848T>A)
c.359T>A
c.788-434T>A (n.788-434T>A)
c.410-434T>A (n.410-434T>A)
c.413-434T>A (n.413-434T>A)
c.5-27515T>A (n.5-27515T>A)
c.-43-16945T>A (n.-43-16945T>A)
c.-99+33805T>A (n.-99+33805T>A)
n.4201T>A
n.4242T>A
17g.43091466_43091469delCA002593BRCA1n.4126_4129del
c.4062_4065del (p.Asn1355LysfsTer10)
c.3936_3939del (p.Asn1313LysfsTer10)
c.4059_4062del (p.Asn1354LysfsTer10)
c.3984_3987del (p.Asn1329LysfsTer10)
c.785-437_785-434del (n.785-437_785-434del)
c.647-437_647-434del (n.647-437_647-434del)
c.3174_3177del (p.Asn1059LysfsTer10)
c.3939_3942del (p.Asn1314LysfsTer10)
c.3921_3924del (p.Asn1308LysfsTer10)
c.665-437_665-434del (n.665-437_665-434del)
c.707-437_707-434del (n.707-437_707-434del)
c.383_386del
c.671-437_671-434del (n.671-437_671-434del)
c.*3845_*3848del (n.*3845_*3848del)
c.356_359del
c.788-437_788-434del (n.788-437_788-434del)
c.410-437_410-434del (n.410-437_410-434del)
c.413-437_413-434del (n.413-437_413-434del)
c.5-27518_5-27515del (n.5-27518_5-27515del)
c.-43-16948_-43-16945del (n.-43-16948_-43-16945del)
c.-99+33802_-99+33805del (n.-99+33802_-99+33805del)
n.4198_4201del
n.4239_4242del
ClinVar dbSNP
17g.43091466_43091470delinsATTATCA2260781950BRCA1n.4125_4129delinsATAAT
c.4061_4065delinsATAAT (p.Asn1354=)
c.3935_3939delinsATAAT (p.Asn1312=)
c.4058_4062delinsATAAT (p.Asn1353=)
c.3983_3987delinsATAAT (p.Asn1328=)
c.785-438_785-434delinsATAAT (n.785-438_785-434delinsATAAT)
c.647-438_647-434delinsATAAT (n.647-438_647-434delinsATAAT)
c.3173_3177delinsATAAT (p.Asn1058=)
c.3938_3942delinsATAAT (p.Asn1313=)
c.3920_3924delinsATAAT (p.Asn1307=)
c.665-438_665-434delinsATAAT (n.665-438_665-434delinsATAAT)
c.707-438_707-434delinsATAAT (n.707-438_707-434delinsATAAT)
c.382_386delinsATAAT
c.671-438_671-434delinsATAAT (n.671-438_671-434delinsATAAT)
c.*3844_*3848delinsATAAT (n.*3844_*3848delinsATAAT)
c.355_359delinsATAAT
c.788-438_788-434delinsATAAT (n.788-438_788-434delinsATAAT)
c.410-438_410-434delinsATAAT (n.410-438_410-434delinsATAAT)
c.413-438_413-434delinsATAAT (n.413-438_413-434delinsATAAT)
c.5-27519_5-27515delinsATAAT (n.5-27519_5-27515delinsATAAT)
c.-43-16949_-43-16945delinsATAAT (n.-43-16949_-43-16945delinsATAAT)
c.-99+33801_-99+33805delinsATAAT (n.-99+33801_-99+33805delinsATAAT)
n.4197_4201delinsATAAT
n.4238_4242delinsATAAT
17g.43091469_43091471delCA002595BRCA1n.4127_4129del
c.4063_4065del (p.Asn1355del)
c.3937_3939del (p.Asn1313del)
c.4060_4062del (p.Asn1354del)
c.3985_3987del (p.Asn1329del)
c.785-436_785-434del (n.785-436_785-434del)
c.647-436_647-434del (n.647-436_647-434del)
c.3175_3177del (p.Asn1059del)
c.3940_3942del (p.Asn1314del)
c.3922_3924del (p.Asn1308del)
c.665-436_665-434del (n.665-436_665-434del)
c.707-436_707-434del (n.707-436_707-434del)
c.384_386del
c.671-436_671-434del (n.671-436_671-434del)
c.*3846_*3848del (n.*3846_*3848del)
c.357_359del
c.788-436_788-434del (n.788-436_788-434del)
c.410-436_410-434del (n.410-436_410-434del)
c.413-436_413-434del (n.413-436_413-434del)
c.5-27517_5-27515del (n.5-27517_5-27515del)
c.-43-16947_-43-16945del (n.-43-16947_-43-16945del)
c.-99+33803_-99+33805del (n.-99+33803_-99+33805del)
n.4199_4201del
n.4240_4242del
dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched