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.43091484dupCA327907BRCA1n.4113dup
c.4049dup (p.Glu1352GlyfsTer4)
c.3923dup (p.Glu1310GlyfsTer4)
c.4046dup (p.Glu1351GlyfsTer4)
c.3971dup (p.Glu1326GlyfsTer4)
c.785-450dup (n.785-450dup)
c.647-450dup (n.647-450dup)
c.3161dup (p.Glu1056GlyfsTer4)
c.3926dup (p.Glu1311GlyfsTer4)
c.3908dup (p.Glu1305GlyfsTer4)
c.665-450dup (n.665-450dup)
c.707-450dup (n.707-450dup)
c.370dup
c.671-450dup (n.671-450dup)
c.*3832dup (n.*3832dup)
c.343dup
c.788-450dup (n.788-450dup)
c.410-450dup (n.410-450dup)
c.413-450dup (n.413-450dup)
c.5-27531dup (n.5-27531dup)
c.-43-16961dup (n.-43-16961dup)
c.-99+33789dup (n.-99+33789dup)
n.4185dup
n.4226dup
 ClinVar dbSNP
17g.43091484C>ACA500231988BRCA1n.4111G>T
c.4047G>T (p.Thr1349=)
c.3921G>T (p.Thr1307=)
c.4044G>T (p.Thr1348=)
c.3969G>T (p.Thr1323=)
c.785-452G>T (n.785-452G>T)
c.647-452G>T (n.647-452G>T)
c.3159G>T (p.Thr1053=)
c.3924G>T (p.Thr1308=)
c.3906G>T (p.Thr1302=)
c.665-452G>T (n.665-452G>T)
c.707-452G>T (n.707-452G>T)
c.368G>T
c.671-452G>T (n.671-452G>T)
c.*3830G>T (n.*3830G>T)
c.341G>T
c.788-452G>T (n.788-452G>T)
c.410-452G>T (n.410-452G>T)
c.413-452G>T (n.413-452G>T)
c.5-27533G>T (n.5-27533G>T)
c.-43-16963G>T (n.-43-16963G>T)
c.-99+33787G>T (n.-99+33787G>T)
n.4183G>T
n.4224G>T
 ClinVar dbSNP
17g.43091484C=CA2260781964BRCA1n.4111G=
c.4047G= (p.Thr1349=)
c.3921G= (p.Thr1307=)
c.4044G= (p.Thr1348=)
c.3969G= (p.Thr1323=)
c.785-452G= (n.785-452G=)
c.647-452G= (n.647-452G=)
c.3159G= (p.Thr1053=)
c.3924G= (p.Thr1308=)
c.3906G= (p.Thr1302=)
c.665-452G= (n.665-452G=)
c.707-452G= (n.707-452G=)
c.368G=
c.671-452G= (n.671-452G=)
c.*3830G= (n.*3830G=)
c.341G=
c.788-452G= (n.788-452G=)
c.410-452G= (n.410-452G=)
c.413-452G= (n.413-452G=)
c.5-27533G= (n.5-27533G=)
c.-43-16963G= (n.-43-16963G=)
c.-99+33787G= (n.-99+33787G=)
n.4183G=
n.4224G=
17g.43091484C>GCA500231989BRCA1n.4111G>C
c.4047G>C (p.Thr1349=)
c.3921G>C (p.Thr1307=)
c.4044G>C (p.Thr1348=)
c.3969G>C (p.Thr1323=)
c.785-452G>C (n.785-452G>C)
c.647-452G>C (n.647-452G>C)
c.3159G>C (p.Thr1053=)
c.3924G>C (p.Thr1308=)
c.3906G>C (p.Thr1302=)
c.665-452G>C (n.665-452G>C)
c.707-452G>C (n.707-452G>C)
c.368G>C
c.671-452G>C (n.671-452G>C)
c.*3830G>C (n.*3830G>C)
c.341G>C
c.788-452G>C (n.788-452G>C)
c.410-452G>C (n.410-452G>C)
c.413-452G>C (n.413-452G>C)
c.5-27533G>C (n.5-27533G>C)
c.-43-16963G>C (n.-43-16963G>C)
c.-99+33787G>C (n.-99+33787G>C)
n.4183G>C
n.4224G>C
 dbSNP gnomAD v3 gnomAD v4
17g.43091484C>TCA059018BRCA1n.4111G>A
c.4047G>A (p.Thr1349=)
c.3921G>A (p.Thr1307=)
c.4044G>A (p.Thr1348=)
c.3969G>A (p.Thr1323=)
c.785-452G>A (n.785-452G>A)
c.647-452G>A (n.647-452G>A)
c.3159G>A (p.Thr1053=)
c.3924G>A (p.Thr1308=)
c.3906G>A (p.Thr1302=)
c.665-452G>A (n.665-452G>A)
c.707-452G>A (n.707-452G>A)
c.368G>A
c.671-452G>A (n.671-452G>A)
c.*3830G>A (n.*3830G>A)
c.341G>A
c.788-452G>A (n.788-452G>A)
c.410-452G>A (n.410-452G>A)
c.413-452G>A (n.413-452G>A)
c.5-27533G>A (n.5-27533G>A)
c.-43-16963G>A (n.-43-16963G>A)
c.-99+33787G>A (n.-99+33787G>A)
n.4183G>A
n.4224G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43091484_43091485delinsTCA2695225945BRCA1n.4110_4111delinsA
c.4046_4047delinsA (p.Thr1349LysfsTer17)
c.3920_3921delinsA (p.Thr1307LysfsTer17)
c.4043_4044delinsA (p.Thr1348LysfsTer17)
c.3968_3969delinsA (p.Thr1323LysfsTer17)
c.785-453_785-452delinsA (n.785-453_785-452delinsA)
c.647-453_647-452delinsA (n.647-453_647-452delinsA)
c.3158_3159delinsA (p.Thr1053LysfsTer17)
c.3923_3924delinsA (p.Thr1308LysfsTer17)
c.3905_3906delinsA (p.Thr1302LysfsTer17)
c.665-453_665-452delinsA (n.665-453_665-452delinsA)
c.707-453_707-452delinsA (n.707-453_707-452delinsA)
c.367_368delinsA
c.671-453_671-452delinsA (n.671-453_671-452delinsA)
c.*3829_*3830delinsA (n.*3829_*3830delinsA)
c.340_341delinsA
c.788-453_788-452delinsA (n.788-453_788-452delinsA)
c.410-453_410-452delinsA (n.410-453_410-452delinsA)
c.413-453_413-452delinsA (n.413-453_413-452delinsA)
c.5-27534_5-27533delinsA (n.5-27534_5-27533delinsA)
c.-43-16964_-43-16963delinsA (n.-43-16964_-43-16963delinsA)
c.-99+33786_-99+33787delinsA (n.-99+33786_-99+33787delinsA)
n.4182_4183delinsA
n.4223_4224delinsA
17g.43091485G>ACA002584BRCA1n.4110C>T
c.4046C>T (p.Thr1349Met)
c.3920C>T (p.Thr1307Met)
c.4043C>T (p.Thr1348Met)
c.3968C>T (p.Thr1323Met)
c.785-453C>T (n.785-453C>T)
c.647-453C>T (n.647-453C>T)
c.3158C>T (p.Thr1053Met)
c.3923C>T (p.Thr1308Met)
c.3905C>T (p.Thr1302Met)
c.665-453C>T (n.665-453C>T)
c.707-453C>T (n.707-453C>T)
c.367C>T
c.671-453C>T (n.671-453C>T)
c.*3829C>T (n.*3829C>T)
c.340C>T
c.788-453C>T (n.788-453C>T)
c.410-453C>T (n.410-453C>T)
c.413-453C>T (n.413-453C>T)
c.5-27534C>T (n.5-27534C>T)
c.-43-16964C>T (n.-43-16964C>T)
c.-99+33786C>T (n.-99+33786C>T)
n.4182C>T
n.4223C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43091485G>CCA10593867BRCA1n.4110C>G
c.4046C>G (p.Thr1349Arg)
c.3920C>G (p.Thr1307Arg)
c.4043C>G (p.Thr1348Arg)
c.3968C>G (p.Thr1323Arg)
c.785-453C>G (n.785-453C>G)
c.647-453C>G (n.647-453C>G)
c.3158C>G (p.Thr1053Arg)
c.3923C>G (p.Thr1308Arg)
c.3905C>G (p.Thr1302Arg)
c.665-453C>G (n.665-453C>G)
c.707-453C>G (n.707-453C>G)
c.367C>G
c.671-453C>G (n.671-453C>G)
c.*3829C>G (n.*3829C>G)
c.340C>G
c.788-453C>G (n.788-453C>G)
c.410-453C>G (n.410-453C>G)
c.413-453C>G (n.413-453C>G)
c.5-27534C>G (n.5-27534C>G)
c.-43-16964C>G (n.-43-16964C>G)
c.-99+33786C>G (n.-99+33786C>G)
n.4182C>G
n.4223C>G
 ClinVar dbSNP gnomAD v4
17g.43091485G=CA2260781965BRCA1n.4110C=
c.4046C= (p.Thr1349=)
c.3920C= (p.Thr1307=)
c.4043C= (p.Thr1348=)
c.3968C= (p.Thr1323=)
c.785-453C= (n.785-453C=)
c.647-453C= (n.647-453C=)
c.3158C= (p.Thr1053=)
c.3923C= (p.Thr1308=)
c.3905C= (p.Thr1302=)
c.665-453C= (n.665-453C=)
c.707-453C= (n.707-453C=)
c.367C=
c.671-453C= (n.671-453C=)
c.*3829C= (n.*3829C=)
c.340C=
c.788-453C= (n.788-453C=)
c.410-453C= (n.410-453C=)
c.413-453C= (n.413-453C=)
c.5-27534C= (n.5-27534C=)
c.-43-16964C= (n.-43-16964C=)
c.-99+33786C= (n.-99+33786C=)
n.4182C=
n.4223C=
17g.43091485G>TCA10593868BRCA1n.4110C>A
c.4046C>A (p.Thr1349Lys)
c.3920C>A (p.Thr1307Lys)
c.4043C>A (p.Thr1348Lys)
c.3968C>A (p.Thr1323Lys)
c.785-453C>A (n.785-453C>A)
c.647-453C>A (n.647-453C>A)
c.3158C>A (p.Thr1053Lys)
c.3923C>A (p.Thr1308Lys)
c.3905C>A (p.Thr1302Lys)
c.665-453C>A (n.665-453C>A)
c.707-453C>A (n.707-453C>A)
c.367C>A
c.671-453C>A (n.671-453C>A)
c.*3829C>A (n.*3829C>A)
c.340C>A
c.788-453C>A (n.788-453C>A)
c.410-453C>A (n.410-453C>A)
c.413-453C>A (n.413-453C>A)
c.5-27534C>A (n.5-27534C>A)
c.-43-16964C>A (n.-43-16964C>A)
c.-99+33786C>A (n.-99+33786C>A)
n.4182C>A
n.4223C>A
 dbSNP
17g.43091485_43091486insATCA916084310BRCA1n.4109_4110insAT
c.4045_4046insAT (p.Thr1349AsnfsTer18)
c.3919_3920insAT (p.Thr1307AsnfsTer18)
c.4042_4043insAT (p.Thr1348AsnfsTer18)
c.3967_3968insAT (p.Thr1323AsnfsTer18)
c.785-454_785-453insAT (n.785-454_785-453insAT)
c.647-454_647-453insAT (n.647-454_647-453insAT)
c.3157_3158insAT (p.Thr1053AsnfsTer18)
c.3922_3923insAT (p.Thr1308AsnfsTer18)
c.3904_3905insAT (p.Thr1302AsnfsTer18)
c.665-454_665-453insAT (n.665-454_665-453insAT)
c.707-454_707-453insAT (n.707-454_707-453insAT)
c.366_367insAT
c.671-454_671-453insAT (n.671-454_671-453insAT)
c.*3828_*3829insAT (n.*3828_*3829insAT)
c.339_340insAT
c.788-454_788-453insAT (n.788-454_788-453insAT)
c.410-454_410-453insAT (n.410-454_410-453insAT)
c.413-454_413-453insAT (n.413-454_413-453insAT)
c.5-27535_5-27534insAT (n.5-27535_5-27534insAT)
c.-43-16965_-43-16964insAT (n.-43-16965_-43-16964insAT)
c.-99+33785_-99+33786insAT (n.-99+33785_-99+33786insAT)
n.4181_4182insAT
n.4222_4223insAT
17g.43091486T>ACA10593869BRCA1n.4109A>T
c.4045A>T (p.Thr1349Ser)
c.3919A>T (p.Thr1307Ser)
c.4042A>T (p.Thr1348Ser)
c.3967A>T (p.Thr1323Ser)
c.785-454A>T (n.785-454A>T)
c.647-454A>T (n.647-454A>T)
c.3157A>T (p.Thr1053Ser)
c.3922A>T (p.Thr1308Ser)
c.3904A>T (p.Thr1302Ser)
c.665-454A>T (n.665-454A>T)
c.707-454A>T (n.707-454A>T)
c.366A>T
c.671-454A>T (n.671-454A>T)
c.*3828A>T (n.*3828A>T)
c.339A>T
c.788-454A>T (n.788-454A>T)
c.410-454A>T (n.410-454A>T)
c.413-454A>T (n.413-454A>T)
c.5-27535A>T (n.5-27535A>T)
c.-43-16965A>T (n.-43-16965A>T)
c.-99+33785A>T (n.-99+33785A>T)
n.4181A>T
n.4222A>T
 dbSNP
17g.43091486T>CCA10593870BRCA1n.4109A>G
c.4045A>G (p.Thr1349Ala)
c.3919A>G (p.Thr1307Ala)
c.4042A>G (p.Thr1348Ala)
c.3967A>G (p.Thr1323Ala)
c.785-454A>G (n.785-454A>G)
c.647-454A>G (n.647-454A>G)
c.3157A>G (p.Thr1053Ala)
c.3922A>G (p.Thr1308Ala)
c.3904A>G (p.Thr1302Ala)
c.665-454A>G (n.665-454A>G)
c.707-454A>G (n.707-454A>G)
c.366A>G
c.671-454A>G (n.671-454A>G)
c.*3828A>G (n.*3828A>G)
c.339A>G
c.788-454A>G (n.788-454A>G)
c.410-454A>G (n.410-454A>G)
c.413-454A>G (n.413-454A>G)
c.5-27535A>G (n.5-27535A>G)
c.-43-16965A>G (n.-43-16965A>G)
c.-99+33785A>G (n.-99+33785A>G)
n.4181A>G
n.4222A>G
 ClinVar dbSNP gnomAD v4
17g.43091486T>GCA002583BRCA1n.4109A>C
c.4045A>C (p.Thr1349Pro)
c.3919A>C (p.Thr1307Pro)
c.4042A>C (p.Thr1348Pro)
c.3967A>C (p.Thr1323Pro)
c.785-454A>C (n.785-454A>C)
c.647-454A>C (n.647-454A>C)
c.3157A>C (p.Thr1053Pro)
c.3922A>C (p.Thr1308Pro)
c.3904A>C (p.Thr1302Pro)
c.665-454A>C (n.665-454A>C)
c.707-454A>C (n.707-454A>C)
c.366A>C
c.671-454A>C (n.671-454A>C)
c.*3828A>C (n.*3828A>C)
c.339A>C
c.788-454A>C (n.788-454A>C)
c.410-454A>C (n.410-454A>C)
c.413-454A>C (n.413-454A>C)
c.5-27535A>C (n.5-27535A>C)
c.-43-16965A>C (n.-43-16965A>C)
c.-99+33785A>C (n.-99+33785A>C)
n.4181A>C
n.4222A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43091486T=CA2260781966BRCA1n.4109A=
c.4045A= (p.Thr1349=)
c.3919A= (p.Thr1307=)
c.4042A= (p.Thr1348=)
c.3967A= (p.Thr1323=)
c.785-454A= (n.785-454A=)
c.647-454A= (n.647-454A=)
c.3157A= (p.Thr1053=)
c.3922A= (p.Thr1308=)
c.3904A= (p.Thr1302=)
c.665-454A= (n.665-454A=)
c.707-454A= (n.707-454A=)
c.366A=
c.671-454A= (n.671-454A=)
c.*3828A= (n.*3828A=)
c.339A=
c.788-454A= (n.788-454A=)
c.410-454A= (n.410-454A=)
c.413-454A= (n.413-454A=)
c.5-27535A= (n.5-27535A=)
c.-43-16965A= (n.-43-16965A=)
c.-99+33785A= (n.-99+33785A=)
n.4181A=
n.4222A=
17g.43091486_43091487insATCA915950089BRCA1n.4109_4110insTA
c.4045_4046insTA (p.Thr1349IlefsTer18)
c.3919_3920insTA (p.Thr1307IlefsTer18)
c.4042_4043insTA (p.Thr1348IlefsTer18)
c.3967_3968insTA (p.Thr1323IlefsTer18)
c.785-454_785-453insTA (n.785-454_785-453insTA)
c.647-454_647-453insTA (n.647-454_647-453insTA)
c.3157_3158insTA (p.Thr1053IlefsTer18)
c.3922_3923insTA (p.Thr1308IlefsTer18)
c.3904_3905insTA (p.Thr1302IlefsTer18)
c.665-454_665-453insTA (n.665-454_665-453insTA)
c.707-454_707-453insTA (n.707-454_707-453insTA)
c.366_367insTA
c.671-454_671-453insTA (n.671-454_671-453insTA)
c.*3828_*3829insTA (n.*3828_*3829insTA)
c.339_340insTA
c.788-454_788-453insTA (n.788-454_788-453insTA)
c.410-454_410-453insTA (n.410-454_410-453insTA)
c.413-454_413-453insTA (n.413-454_413-453insTA)
c.5-27535_5-27534insTA (n.5-27535_5-27534insTA)
c.-43-16965_-43-16964insTA (n.-43-16965_-43-16964insTA)
c.-99+33785_-99+33786insTA (n.-99+33785_-99+33786insTA)
n.4181_4182insTA
n.4222_4223insTA
 ClinVar dbSNP
17g.43091486_43091487insCCA2530989743BRCA1n.4108_4109insG
c.4044_4045insG (p.Thr1349AspfsTer7)
c.3918_3919insG (p.Thr1307AspfsTer7)
c.4041_4042insG (p.Thr1348AspfsTer7)
c.3966_3967insG (p.Thr1323AspfsTer7)
c.785-455_785-454insG (n.785-455_785-454insG)
c.647-455_647-454insG (n.647-455_647-454insG)
c.3156_3157insG (p.Thr1053AspfsTer7)
c.3921_3922insG (p.Thr1308AspfsTer7)
c.3903_3904insG (p.Thr1302AspfsTer7)
c.665-455_665-454insG (n.665-455_665-454insG)
c.707-455_707-454insG (n.707-455_707-454insG)
c.365_366insG
c.671-455_671-454insG (n.671-455_671-454insG)
c.*3827_*3828insG (n.*3827_*3828insG)
c.338_339insG
c.788-455_788-454insG (n.788-455_788-454insG)
c.410-455_410-454insG (n.410-455_410-454insG)
c.413-455_413-454insG (n.413-455_413-454insG)
c.5-27536_5-27535insG (n.5-27536_5-27535insG)
c.-43-16966_-43-16965insG (n.-43-16966_-43-16965insG)
c.-99+33784_-99+33785insG (n.-99+33784_-99+33785insG)
n.4180_4181insG
n.4221_4222insG
17g.43091487T>ACA500231990BRCA1n.4108A>T
c.4044A>T (p.Gly1348=)
c.3918A>T (p.Gly1306=)
c.4041A>T (p.Gly1347=)
c.3966A>T (p.Gly1322=)
c.785-455A>T (n.785-455A>T)
c.647-455A>T (n.647-455A>T)
c.3156A>T (p.Gly1052=)
c.3921A>T (p.Gly1307=)
c.3903A>T (p.Gly1301=)
c.665-455A>T (n.665-455A>T)
c.707-455A>T (n.707-455A>T)
c.365A>T
c.671-455A>T (n.671-455A>T)
c.*3827A>T (n.*3827A>T)
c.338A>T
c.788-455A>T (n.788-455A>T)
c.410-455A>T (n.410-455A>T)
c.413-455A>T (n.413-455A>T)
c.5-27536A>T (n.5-27536A>T)
c.-43-16966A>T (n.-43-16966A>T)
c.-99+33784A>T (n.-99+33784A>T)
n.4180A>T
n.4221A>T
17g.43091487T>CCA500231991BRCA1n.4108A>G
c.4044A>G (p.Gly1348=)
c.3918A>G (p.Gly1306=)
c.4041A>G (p.Gly1347=)
c.3966A>G (p.Gly1322=)
c.785-455A>G (n.785-455A>G)
c.647-455A>G (n.647-455A>G)
c.3156A>G (p.Gly1052=)
c.3921A>G (p.Gly1307=)
c.3903A>G (p.Gly1301=)
c.665-455A>G (n.665-455A>G)
c.707-455A>G (n.707-455A>G)
c.365A>G
c.671-455A>G (n.671-455A>G)
c.*3827A>G (n.*3827A>G)
c.338A>G
c.788-455A>G (n.788-455A>G)
c.410-455A>G (n.410-455A>G)
c.413-455A>G (n.413-455A>G)
c.5-27536A>G (n.5-27536A>G)
c.-43-16966A>G (n.-43-16966A>G)
c.-99+33784A>G (n.-99+33784A>G)
n.4180A>G
n.4221A>G
17g.43091487T>GCA500231992BRCA1n.4108A>C
c.4044A>C (p.Gly1348=)
c.3918A>C (p.Gly1306=)
c.4041A>C (p.Gly1347=)
c.3966A>C (p.Gly1322=)
c.785-455A>C (n.785-455A>C)
c.647-455A>C (n.647-455A>C)
c.3156A>C (p.Gly1052=)
c.3921A>C (p.Gly1307=)
c.3903A>C (p.Gly1301=)
c.665-455A>C (n.665-455A>C)
c.707-455A>C (n.707-455A>C)
c.365A>C
c.671-455A>C (n.671-455A>C)
c.*3827A>C (n.*3827A>C)
c.338A>C
c.788-455A>C (n.788-455A>C)
c.410-455A>C (n.410-455A>C)
c.413-455A>C (n.413-455A>C)
c.5-27536A>C (n.5-27536A>C)
c.-43-16966A>C (n.-43-16966A>C)
c.-99+33784A>C (n.-99+33784A>C)
n.4180A>C
n.4221A>C
 dbSNP
17g.43091487_43091488delinsTCCA2260781967BRCA1n.4107_4108delinsGA
c.4043_4044delinsGA (p.Gly1348=)
c.3917_3918delinsGA (p.Gly1306=)
c.4040_4041delinsGA (p.Gly1347=)
c.3965_3966delinsGA (p.Gly1322=)
c.785-456_785-455delinsGA (n.785-456_785-455delinsGA)
c.647-456_647-455delinsGA (n.647-456_647-455delinsGA)
c.3155_3156delinsGA (p.Gly1052=)
c.3920_3921delinsGA (p.Gly1307=)
c.3902_3903delinsGA (p.Gly1301=)
c.665-456_665-455delinsGA (n.665-456_665-455delinsGA)
c.707-456_707-455delinsGA (n.707-456_707-455delinsGA)
c.364_365delinsGA
c.671-456_671-455delinsGA (n.671-456_671-455delinsGA)
c.*3826_*3827delinsGA (n.*3826_*3827delinsGA)
c.337_338delinsGA
c.788-456_788-455delinsGA (n.788-456_788-455delinsGA)
c.410-456_410-455delinsGA (n.410-456_410-455delinsGA)
c.413-456_413-455delinsGA (n.413-456_413-455delinsGA)
c.5-27537_5-27536delinsGA (n.5-27537_5-27536delinsGA)
c.-43-16967_-43-16966delinsGA (n.-43-16967_-43-16966delinsGA)
c.-99+33783_-99+33784delinsGA (n.-99+33783_-99+33784delinsGA)
n.4179_4180delinsGA
n.4220_4221delinsGA
17g.43091488C>ACA10593871BRCA1n.4107G>T
c.4043G>T (p.Gly1348Val)
c.3917G>T (p.Gly1306Val)
c.4040G>T (p.Gly1347Val)
c.3965G>T (p.Gly1322Val)
c.785-456G>T (n.785-456G>T)
c.647-456G>T (n.647-456G>T)
c.3155G>T (p.Gly1052Val)
c.3920G>T (p.Gly1307Val)
c.3902G>T (p.Gly1301Val)
c.665-456G>T (n.665-456G>T)
c.707-456G>T (n.707-456G>T)
c.364G>T
c.671-456G>T (n.671-456G>T)
c.*3826G>T (n.*3826G>T)
c.337G>T
c.788-456G>T (n.788-456G>T)
c.410-456G>T (n.410-456G>T)
c.413-456G>T (n.413-456G>T)
c.5-27537G>T (n.5-27537G>T)
c.-43-16967G>T (n.-43-16967G>T)
c.-99+33783G>T (n.-99+33783G>T)
n.4179G>T
n.4220G>T
 ClinVar
17g.43091488C>GCA10593872BRCA1n.4107G>C
c.4043G>C (p.Gly1348Ala)
c.3917G>C (p.Gly1306Ala)
c.4040G>C (p.Gly1347Ala)
c.3965G>C (p.Gly1322Ala)
c.785-456G>C (n.785-456G>C)
c.647-456G>C (n.647-456G>C)
c.3155G>C (p.Gly1052Ala)
c.3920G>C (p.Gly1307Ala)
c.3902G>C (p.Gly1301Ala)
c.665-456G>C (n.665-456G>C)
c.707-456G>C (n.707-456G>C)
c.364G>C
c.671-456G>C (n.671-456G>C)
c.*3826G>C (n.*3826G>C)
c.337G>C
c.788-456G>C (n.788-456G>C)
c.410-456G>C (n.410-456G>C)
c.413-456G>C (n.413-456G>C)
c.5-27537G>C (n.5-27537G>C)
c.-43-16967G>C (n.-43-16967G>C)
c.-99+33783G>C (n.-99+33783G>C)
n.4179G>C
n.4220G>C
17g.43091488C>TCA10593873BRCA1n.4107G>A
c.4043G>A (p.Gly1348Glu)
c.3917G>A (p.Gly1306Glu)
c.4040G>A (p.Gly1347Glu)
c.3965G>A (p.Gly1322Glu)
c.785-456G>A (n.785-456G>A)
c.647-456G>A (n.647-456G>A)
c.3155G>A (p.Gly1052Glu)
c.3920G>A (p.Gly1307Glu)
c.3902G>A (p.Gly1301Glu)
c.665-456G>A (n.665-456G>A)
c.707-456G>A (n.707-456G>A)
c.364G>A
c.671-456G>A (n.671-456G>A)
c.*3826G>A (n.*3826G>A)
c.337G>A
c.788-456G>A (n.788-456G>A)
c.410-456G>A (n.410-456G>A)
c.413-456G>A (n.413-456G>A)
c.5-27537G>A (n.5-27537G>A)
c.-43-16967G>A (n.-43-16967G>A)
c.-99+33783G>A (n.-99+33783G>A)
n.4179G>A
n.4220G>A
17g.43091489delCA002582BRCA1n.4107del
c.4043del (p.Gly1348GlufsTer18)
c.3917del (p.Gly1306GlufsTer18)
c.4040del (p.Gly1347GlufsTer18)
c.3965del (p.Gly1322GlufsTer18)
c.785-456del (n.785-456del)
c.647-456del (n.647-456del)
c.3155del (p.Gly1052GlufsTer18)
c.3920del (p.Gly1307GlufsTer18)
c.3902del (p.Gly1301GlufsTer18)
c.665-456del (n.665-456del)
c.707-456del (n.707-456del)
c.364del
c.671-456del (n.671-456del)
c.*3826del (n.*3826del)
c.337del
c.788-456del (n.788-456del)
c.410-456del (n.410-456del)
c.413-456del (n.413-456del)
c.5-27537del (n.5-27537del)
c.-43-16967del (n.-43-16967del)
c.-99+33783del (n.-99+33783del)
n.4179del
n.4220del
 ClinVar dbSNP
17g.43091488_43091490delinsCCTCA2260781968BRCA1n.4105_4107delinsAGG
c.4041_4043delinsAGG (p.Arg1347=)
c.3915_3917delinsAGG (p.Arg1305=)
c.4038_4040delinsAGG (p.Arg1346=)
c.3963_3965delinsAGG (p.Arg1321=)
c.785-458_785-456delinsAGG (n.785-458_785-456delinsAGG)
c.647-458_647-456delinsAGG (n.647-458_647-456delinsAGG)
c.3153_3155delinsAGG (p.Arg1051=)
c.3918_3920delinsAGG (p.Arg1306=)
c.3900_3902delinsAGG (p.Arg1300=)
c.665-458_665-456delinsAGG (n.665-458_665-456delinsAGG)
c.707-458_707-456delinsAGG (n.707-458_707-456delinsAGG)
c.362_364delinsAGG
c.671-458_671-456delinsAGG (n.671-458_671-456delinsAGG)
c.*3824_*3826delinsAGG (n.*3824_*3826delinsAGG)
c.335_337delinsAGG
c.788-458_788-456delinsAGG (n.788-458_788-456delinsAGG)
c.410-458_410-456delinsAGG (n.410-458_410-456delinsAGG)
c.413-458_413-456delinsAGG (n.413-458_413-456delinsAGG)
c.5-27539_5-27537delinsAGG (n.5-27539_5-27537delinsAGG)
c.-43-16969_-43-16967delinsAGG (n.-43-16969_-43-16967delinsAGG)
c.-99+33781_-99+33783delinsAGG (n.-99+33781_-99+33783delinsAGG)
n.4177_4179delinsAGG
n.4218_4220delinsAGG
17g.43091489C>ACA10589699BRCA1n.4106G>T
c.4042G>T (p.Gly1348Ter)
c.3916G>T (p.Gly1306Ter)
c.4039G>T (p.Gly1347Ter)
c.3964G>T (p.Gly1322Ter)
c.785-457G>T (n.785-457G>T)
c.647-457G>T (n.647-457G>T)
c.3154G>T (p.Gly1052Ter)
c.3919G>T (p.Gly1307Ter)
c.3901G>T (p.Gly1301Ter)
c.665-457G>T (n.665-457G>T)
c.707-457G>T (n.707-457G>T)
c.363G>T
c.671-457G>T (n.671-457G>T)
c.*3825G>T (n.*3825G>T)
c.336G>T
c.788-457G>T (n.788-457G>T)
c.410-457G>T (n.410-457G>T)
c.413-457G>T (n.413-457G>T)
c.5-27538G>T (n.5-27538G>T)
c.-43-16968G>T (n.-43-16968G>T)
c.-99+33782G>T (n.-99+33782G>T)
n.4178G>T
n.4219G>T
 ClinVar dbSNP
17g.43091489C=CA2260781970BRCA1n.4106G=
c.4042G= (p.Gly1348=)
c.3916G= (p.Gly1306=)
c.4039G= (p.Gly1347=)
c.3964G= (p.Gly1322=)
c.785-457G= (n.785-457G=)
c.647-457G= (n.647-457G=)
c.3154G= (p.Gly1052=)
c.3919G= (p.Gly1307=)
c.3901G= (p.Gly1301=)
c.665-457G= (n.665-457G=)
c.707-457G= (n.707-457G=)
c.363G=
c.671-457G= (n.671-457G=)
c.*3825G= (n.*3825G=)
c.336G=
c.788-457G= (n.788-457G=)
c.410-457G= (n.410-457G=)
c.413-457G= (n.413-457G=)
c.5-27538G= (n.5-27538G=)
c.-43-16968G= (n.-43-16968G=)
c.-99+33782G= (n.-99+33782G=)
n.4178G=
n.4219G=
17g.43091489C>GCA10593874BRCA1n.4106G>C
c.4042G>C (p.Gly1348Arg)
c.3916G>C (p.Gly1306Arg)
c.4039G>C (p.Gly1347Arg)
c.3964G>C (p.Gly1322Arg)
c.785-457G>C (n.785-457G>C)
c.647-457G>C (n.647-457G>C)
c.3154G>C (p.Gly1052Arg)
c.3919G>C (p.Gly1307Arg)
c.3901G>C (p.Gly1301Arg)
c.665-457G>C (n.665-457G>C)
c.707-457G>C (n.707-457G>C)
c.363G>C
c.671-457G>C (n.671-457G>C)
c.*3825G>C (n.*3825G>C)
c.336G>C
c.788-457G>C (n.788-457G>C)
c.410-457G>C (n.410-457G>C)
c.413-457G>C (n.413-457G>C)
c.5-27538G>C (n.5-27538G>C)
c.-43-16968G>C (n.-43-16968G>C)
c.-99+33782G>C (n.-99+33782G>C)
n.4178G>C
n.4219G>C
17g.43091489C>TCA10593875BRCA1n.4106G>A
c.4042G>A (p.Gly1348Arg)
c.3916G>A (p.Gly1306Arg)
c.4039G>A (p.Gly1347Arg)
c.3964G>A (p.Gly1322Arg)
c.785-457G>A (n.785-457G>A)
c.647-457G>A (n.647-457G>A)
c.3154G>A (p.Gly1052Arg)
c.3919G>A (p.Gly1307Arg)
c.3901G>A (p.Gly1301Arg)
c.665-457G>A (n.665-457G>A)
c.707-457G>A (n.707-457G>A)
c.363G>A
c.671-457G>A (n.671-457G>A)
c.*3825G>A (n.*3825G>A)
c.336G>A
c.788-457G>A (n.788-457G>A)
c.410-457G>A (n.410-457G>A)
c.413-457G>A (n.413-457G>A)
c.5-27538G>A (n.5-27538G>A)
c.-43-16968G>A (n.-43-16968G>A)
c.-99+33782G>A (n.-99+33782G>A)
n.4178G>A
n.4219G>A
 dbSNP
17g.43091491_43091492delCA002581BRCA1n.4105_4106del
c.4041_4042del (p.Gly1348AsnfsTer7)
c.3915_3916del (p.Gly1306AsnfsTer7)
c.4038_4039del (p.Gly1347AsnfsTer7)
c.3963_3964del (p.Gly1322AsnfsTer7)
c.785-458_785-457del (n.785-458_785-457del)
c.647-458_647-457del (n.647-458_647-457del)
c.3153_3154del (p.Gly1052AsnfsTer7)
c.3918_3919del (p.Gly1307AsnfsTer7)
c.3900_3901del (p.Gly1301AsnfsTer7)
c.665-458_665-457del (n.665-458_665-457del)
c.707-458_707-457del (n.707-458_707-457del)
c.362_363del
c.671-458_671-457del (n.671-458_671-457del)
c.*3824_*3825del (n.*3824_*3825del)
c.335_336del
c.788-458_788-457del (n.788-458_788-457del)
c.410-458_410-457del (n.410-458_410-457del)
c.413-458_413-457del (n.413-458_413-457del)
c.5-27539_5-27538del (n.5-27539_5-27538del)
c.-43-16969_-43-16968del (n.-43-16969_-43-16968del)
c.-99+33781_-99+33782del (n.-99+33781_-99+33782del)
n.4177_4178del
n.4218_4219del
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43091489_43091493delinsCTCTTCA2260781969BRCA1n.4102_4106delinsAAGAG
c.4038_4042delinsAAGAG (p.Glu1346=)
c.3912_3916delinsAAGAG (p.Glu1304=)
c.4035_4039delinsAAGAG (p.Glu1345=)
c.3960_3964delinsAAGAG (p.Glu1320=)
c.785-461_785-457delinsAAGAG (n.785-461_785-457delinsAAGAG)
c.647-461_647-457delinsAAGAG (n.647-461_647-457delinsAAGAG)
c.3150_3154delinsAAGAG (p.Glu1050=)
c.3915_3919delinsAAGAG (p.Glu1305=)
c.3897_3901delinsAAGAG (p.Glu1299=)
c.665-461_665-457delinsAAGAG (n.665-461_665-457delinsAAGAG)
c.707-461_707-457delinsAAGAG (n.707-461_707-457delinsAAGAG)
c.359_363delinsAAGAG
c.671-461_671-457delinsAAGAG (n.671-461_671-457delinsAAGAG)
c.*3821_*3825delinsAAGAG (n.*3821_*3825delinsAAGAG)
c.332_336delinsAAGAG
c.788-461_788-457delinsAAGAG (n.788-461_788-457delinsAAGAG)
c.410-461_410-457delinsAAGAG (n.410-461_410-457delinsAAGAG)
c.413-461_413-457delinsAAGAG (n.413-461_413-457delinsAAGAG)
c.5-27542_5-27538delinsAAGAG (n.5-27542_5-27538delinsAAGAG)
c.-43-16972_-43-16968delinsAAGAG (n.-43-16972_-43-16968delinsAAGAG)
c.-99+33778_-99+33782delinsAAGAG (n.-99+33778_-99+33782delinsAAGAG)
n.4174_4178delinsAAGAG
n.4215_4219delinsAAGAG
17g.43091490delCA2513807920BRCA1n.4105del
c.4041del (p.Gly1348GlufsTer18)
c.3915del (p.Gly1306GlufsTer18)
c.4038del (p.Gly1347GlufsTer18)
c.3963del (p.Gly1322GlufsTer18)
c.785-458del (n.785-458del)
c.647-458del (n.647-458del)
c.3153del (p.Gly1052GlufsTer18)
c.3918del (p.Gly1307GlufsTer18)
c.3900del (p.Gly1301GlufsTer18)
c.665-458del (n.665-458del)
c.707-458del (n.707-458del)
c.362del
c.671-458del (n.671-458del)
c.*3824del (n.*3824del)
c.335del
c.788-458del (n.788-458del)
c.410-458del (n.410-458del)
c.413-458del (n.413-458del)
c.5-27539del (n.5-27539del)
c.-43-16969del (n.-43-16969del)
c.-99+33781del (n.-99+33781del)
n.4177del
n.4218del
17g.43091490T>ACA10593876BRCA1n.4105A>T
c.4041A>T (p.Arg1347Ser)
c.3915A>T (p.Arg1305Ser)
c.4038A>T (p.Arg1346Ser)
c.3963A>T (p.Arg1321Ser)
c.785-458A>T (n.785-458A>T)
c.647-458A>T (n.647-458A>T)
c.3153A>T (p.Arg1051Ser)
c.3918A>T (p.Arg1306Ser)
c.3900A>T (p.Arg1300Ser)
c.665-458A>T (n.665-458A>T)
c.707-458A>T (n.707-458A>T)
c.362A>T
c.671-458A>T (n.671-458A>T)
c.*3824A>T (n.*3824A>T)
c.335A>T
c.788-458A>T (n.788-458A>T)
c.410-458A>T (n.410-458A>T)
c.413-458A>T (n.413-458A>T)
c.5-27539A>T (n.5-27539A>T)
c.-43-16969A>T (n.-43-16969A>T)
c.-99+33781A>T (n.-99+33781A>T)
n.4177A>T
n.4218A>T
17g.43091490T>CCA500231993BRCA1n.4105A>G
c.4041A>G (p.Arg1347=)
c.3915A>G (p.Arg1305=)
c.4038A>G (p.Arg1346=)
c.3963A>G (p.Arg1321=)
c.785-458A>G (n.785-458A>G)
c.647-458A>G (n.647-458A>G)
c.3153A>G (p.Arg1051=)
c.3918A>G (p.Arg1306=)
c.3900A>G (p.Arg1300=)
c.665-458A>G (n.665-458A>G)
c.707-458A>G (n.707-458A>G)
c.362A>G
c.671-458A>G (n.671-458A>G)
c.*3824A>G (n.*3824A>G)
c.335A>G
c.788-458A>G (n.788-458A>G)
c.410-458A>G (n.410-458A>G)
c.413-458A>G (n.413-458A>G)
c.5-27539A>G (n.5-27539A>G)
c.-43-16969A>G (n.-43-16969A>G)
c.-99+33781A>G (n.-99+33781A>G)
n.4177A>G
n.4218A>G
 dbSNP gnomAD v4
17g.43091490T>GCA10593877BRCA1n.4105A>C
c.4041A>C (p.Arg1347Ser)
c.3915A>C (p.Arg1305Ser)
c.4038A>C (p.Arg1346Ser)
c.3963A>C (p.Arg1321Ser)
c.785-458A>C (n.785-458A>C)
c.647-458A>C (n.647-458A>C)
c.3153A>C (p.Arg1051Ser)
c.3918A>C (p.Arg1306Ser)
c.3900A>C (p.Arg1300Ser)
c.665-458A>C (n.665-458A>C)
c.707-458A>C (n.707-458A>C)
c.362A>C
c.671-458A>C (n.671-458A>C)
c.*3824A>C (n.*3824A>C)
c.335A>C
c.788-458A>C (n.788-458A>C)
c.410-458A>C (n.410-458A>C)
c.413-458A>C (n.413-458A>C)
c.5-27539A>C (n.5-27539A>C)
c.-43-16969A>C (n.-43-16969A>C)
c.-99+33781A>C (n.-99+33781A>C)
n.4177A>C
n.4218A>C
17g.43091490T=CA2260781971BRCA1n.4105A=
c.4041A= (p.Arg1347=)
c.3915A= (p.Arg1305=)
c.4038A= (p.Arg1346=)
c.3963A= (p.Arg1321=)
c.785-458A= (n.785-458A=)
c.647-458A= (n.647-458A=)
c.3153A= (p.Arg1051=)
c.3918A= (p.Arg1306=)
c.3900A= (p.Arg1300=)
c.665-458A= (n.665-458A=)
c.707-458A= (n.707-458A=)
c.362A=
c.671-458A= (n.671-458A=)
c.*3824A= (n.*3824A=)
c.335A=
c.788-458A= (n.788-458A=)
c.410-458A= (n.410-458A=)
c.413-458A= (n.413-458A=)
c.5-27539A= (n.5-27539A=)
c.-43-16969A= (n.-43-16969A=)
c.-99+33781A= (n.-99+33781A=)
n.4177A=
n.4218A=
17g.43091494_43091497delCA002577BRCA1n.4102_4105del
c.4038_4041del (p.Arg1347GlufsTer18)
c.3912_3915del (p.Arg1305GlufsTer18)
c.4035_4038del (p.Arg1346GlufsTer18)
c.3960_3963del (p.Arg1321GlufsTer18)
c.785-461_785-458del (n.785-461_785-458del)
c.647-461_647-458del (n.647-461_647-458del)
c.3150_3153del (p.Arg1051GlufsTer18)
c.3915_3918del (p.Arg1306GlufsTer18)
c.3897_3900del (p.Arg1300GlufsTer18)
c.665-461_665-458del (n.665-461_665-458del)
c.707-461_707-458del (n.707-461_707-458del)
c.359_362del
c.671-461_671-458del (n.671-461_671-458del)
c.*3821_*3824del (n.*3821_*3824del)
c.332_335del
c.788-461_788-458del (n.788-461_788-458del)
c.410-461_410-458del (n.410-461_410-458del)
c.413-461_413-458del (n.413-461_413-458del)
c.5-27542_5-27539del (n.5-27542_5-27539del)
c.-43-16972_-43-16969del (n.-43-16972_-43-16969del)
c.-99+33778_-99+33781del (n.-99+33778_-99+33781del)
n.4174_4177del
n.4215_4218del
 ClinVar dbSNP
17g.43091491C>ACA10593878BRCA1n.4104G>T
c.4040G>T (p.Arg1347Ile)
c.3914G>T (p.Arg1305Ile)
c.4037G>T (p.Arg1346Ile)
c.3962G>T (p.Arg1321Ile)
c.785-459G>T (n.785-459G>T)
c.647-459G>T (n.647-459G>T)
c.3152G>T (p.Arg1051Ile)
c.3917G>T (p.Arg1306Ile)
c.3899G>T (p.Arg1300Ile)
c.665-459G>T (n.665-459G>T)
c.707-459G>T (n.707-459G>T)
c.361G>T
c.671-459G>T (n.671-459G>T)
c.*3823G>T (n.*3823G>T)
c.334G>T
c.788-459G>T (n.788-459G>T)
c.410-459G>T (n.410-459G>T)
c.413-459G>T (n.413-459G>T)
c.5-27540G>T (n.5-27540G>T)
c.-43-16970G>T (n.-43-16970G>T)
c.-99+33780G>T (n.-99+33780G>T)
n.4176G>T
n.4217G>T
 ClinVar
17g.43091491C=CA2260781972BRCA1n.4104G=
c.4040G= (p.Arg1347=)
c.3914G= (p.Arg1305=)
c.4037G= (p.Arg1346=)
c.3962G= (p.Arg1321=)
c.785-459G= (n.785-459G=)
c.647-459G= (n.647-459G=)
c.3152G= (p.Arg1051=)
c.3917G= (p.Arg1306=)
c.3899G= (p.Arg1300=)
c.665-459G= (n.665-459G=)
c.707-459G= (n.707-459G=)
c.361G=
c.671-459G= (n.671-459G=)
c.*3823G= (n.*3823G=)
c.334G=
c.788-459G= (n.788-459G=)
c.410-459G= (n.410-459G=)
c.413-459G= (n.413-459G=)
c.5-27540G= (n.5-27540G=)
c.-43-16970G= (n.-43-16970G=)
c.-99+33780G= (n.-99+33780G=)
n.4176G=
n.4217G=
17g.43091491C>GCA10593879BRCA1n.4104G>C
c.4040G>C (p.Arg1347Thr)
c.3914G>C (p.Arg1305Thr)
c.4037G>C (p.Arg1346Thr)
c.3962G>C (p.Arg1321Thr)
c.785-459G>C (n.785-459G>C)
c.647-459G>C (n.647-459G>C)
c.3152G>C (p.Arg1051Thr)
c.3917G>C (p.Arg1306Thr)
c.3899G>C (p.Arg1300Thr)
c.665-459G>C (n.665-459G>C)
c.707-459G>C (n.707-459G>C)
c.361G>C
c.671-459G>C (n.671-459G>C)
c.*3823G>C (n.*3823G>C)
c.334G>C
c.788-459G>C (n.788-459G>C)
c.410-459G>C (n.410-459G>C)
c.413-459G>C (n.413-459G>C)
c.5-27540G>C (n.5-27540G>C)
c.-43-16970G>C (n.-43-16970G>C)
c.-99+33780G>C (n.-99+33780G>C)
n.4176G>C
n.4217G>C
 dbSNP

Number of alleles fetched