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.43091479A=CA2260781959BRCA1n.4116T=
c.4052T= (p.Leu1351=)
c.3926T= (p.Leu1309=)
c.4049T= (p.Leu1350=)
c.3974T= (p.Leu1325=)
c.785-447T= (n.785-447T=)
c.647-447T= (n.647-447T=)
c.3164T= (p.Leu1055=)
c.3929T= (p.Leu1310=)
c.3911T= (p.Leu1304=)
c.665-447T= (n.665-447T=)
c.707-447T= (n.707-447T=)
c.373T=
c.671-447T= (n.671-447T=)
c.*3835T= (n.*3835T=)
c.346T=
c.788-447T= (n.788-447T=)
c.410-447T= (n.410-447T=)
c.413-447T= (n.413-447T=)
c.5-27528T= (n.5-27528T=)
c.-43-16958T= (n.-43-16958T=)
c.-99+33792T= (n.-99+33792T=)
n.4188T=
n.4229T=
17g.43091479A>CCA10593858BRCA1n.4116T>G
c.4052T>G (p.Leu1351Trp)
c.3926T>G (p.Leu1309Trp)
c.4049T>G (p.Leu1350Trp)
c.3974T>G (p.Leu1325Trp)
c.785-447T>G (n.785-447T>G)
c.647-447T>G (n.647-447T>G)
c.3164T>G (p.Leu1055Trp)
c.3929T>G (p.Leu1310Trp)
c.3911T>G (p.Leu1304Trp)
c.665-447T>G (n.665-447T>G)
c.707-447T>G (n.707-447T>G)
c.373T>G
c.671-447T>G (n.671-447T>G)
c.*3835T>G (n.*3835T>G)
c.346T>G
c.788-447T>G (n.788-447T>G)
c.410-447T>G (n.410-447T>G)
c.413-447T>G (n.413-447T>G)
c.5-27528T>G (n.5-27528T>G)
c.-43-16958T>G (n.-43-16958T>G)
c.-99+33792T>G (n.-99+33792T>G)
n.4188T>G
n.4229T>G
17g.43091479A>GCA10593859BRCA1n.4116T>C
c.4052T>C (p.Leu1351Ser)
c.3926T>C (p.Leu1309Ser)
c.4049T>C (p.Leu1350Ser)
c.3974T>C (p.Leu1325Ser)
c.785-447T>C (n.785-447T>C)
c.647-447T>C (n.647-447T>C)
c.3164T>C (p.Leu1055Ser)
c.3929T>C (p.Leu1310Ser)
c.3911T>C (p.Leu1304Ser)
c.665-447T>C (n.665-447T>C)
c.707-447T>C (n.707-447T>C)
c.373T>C
c.671-447T>C (n.671-447T>C)
c.*3835T>C (n.*3835T>C)
c.346T>C
c.788-447T>C (n.788-447T>C)
c.410-447T>C (n.410-447T>C)
c.413-447T>C (n.413-447T>C)
c.5-27528T>C (n.5-27528T>C)
c.-43-16958T>C (n.-43-16958T>C)
c.-99+33792T>C (n.-99+33792T>C)
n.4188T>C
n.4229T>C
 dbSNP gnomAD v2 gnomAD v4
17g.43091479A>TCA002587BRCA1n.4116T>A
c.4052T>A (p.Leu1351Ter)
c.3926T>A (p.Leu1309Ter)
c.4049T>A (p.Leu1350Ter)
c.3974T>A (p.Leu1325Ter)
c.785-447T>A (n.785-447T>A)
c.647-447T>A (n.647-447T>A)
c.3164T>A (p.Leu1055Ter)
c.3929T>A (p.Leu1310Ter)
c.3911T>A (p.Leu1304Ter)
c.665-447T>A (n.665-447T>A)
c.707-447T>A (n.707-447T>A)
c.373T>A
c.671-447T>A (n.671-447T>A)
c.*3835T>A (n.*3835T>A)
c.346T>A
c.788-447T>A (n.788-447T>A)
c.410-447T>A (n.410-447T>A)
c.413-447T>A (n.413-447T>A)
c.5-27528T>A (n.5-27528T>A)
c.-43-16958T>A (n.-43-16958T>A)
c.-99+33792T>A (n.-99+33792T>A)
n.4188T>A
n.4229T>A
 ClinVar dbSNP
17g.43091480dupCA002586BRCA1n.4116dup
c.4052dup (p.Leu1351PhefsTer5)
c.3926dup (p.Leu1309PhefsTer5)
c.4049dup (p.Leu1350PhefsTer5)
c.3974dup (p.Leu1325PhefsTer5)
c.785-447dup (n.785-447dup)
c.647-447dup (n.647-447dup)
c.3164dup (p.Leu1055PhefsTer5)
c.3929dup (p.Leu1310PhefsTer5)
c.3911dup (p.Leu1304PhefsTer5)
c.665-447dup (n.665-447dup)
c.707-447dup (n.707-447dup)
c.373dup
c.671-447dup (n.671-447dup)
c.*3835dup (n.*3835dup)
c.346dup
c.788-447dup (n.788-447dup)
c.410-447dup (n.410-447dup)
c.413-447dup (n.413-447dup)
c.5-27528dup (n.5-27528dup)
c.-43-16958dup (n.-43-16958dup)
c.-99+33792dup (n.-99+33792dup)
n.4188dup
n.4229dup
 ClinVar dbSNP
17g.43091479_43091480insCCA658825032BRCA1n.4115_4116insG
c.4051_4052insG (p.Leu1351CysfsTer5)
c.3925_3926insG (p.Leu1309CysfsTer5)
c.4048_4049insG (p.Leu1350CysfsTer5)
c.3973_3974insG (p.Leu1325CysfsTer5)
c.785-448_785-447insG (n.785-448_785-447insG)
c.647-448_647-447insG (n.647-448_647-447insG)
c.3163_3164insG (p.Leu1055CysfsTer5)
c.3928_3929insG (p.Leu1310CysfsTer5)
c.3910_3911insG (p.Leu1304CysfsTer5)
c.665-448_665-447insG (n.665-448_665-447insG)
c.707-448_707-447insG (n.707-448_707-447insG)
c.372_373insG
c.671-448_671-447insG (n.671-448_671-447insG)
c.*3834_*3835insG (n.*3834_*3835insG)
c.345_346insG
c.788-448_788-447insG (n.788-448_788-447insG)
c.410-448_410-447insG (n.410-448_410-447insG)
c.413-448_413-447insG (n.413-448_413-447insG)
c.5-27529_5-27528insG (n.5-27529_5-27528insG)
c.-43-16959_-43-16958insG (n.-43-16959_-43-16958insG)
c.-99+33791_-99+33792insG (n.-99+33791_-99+33792insG)
n.4187_4188insG
n.4228_4229insG
 ClinVar dbSNP
17g.43091480A=CA2260781960BRCA1n.4115T=
c.4051T= (p.Leu1351=)
c.3925T= (p.Leu1309=)
c.4048T= (p.Leu1350=)
c.3973T= (p.Leu1325=)
c.785-448T= (n.785-448T=)
c.647-448T= (n.647-448T=)
c.3163T= (p.Leu1055=)
c.3928T= (p.Leu1310=)
c.3910T= (p.Leu1304=)
c.665-448T= (n.665-448T=)
c.707-448T= (n.707-448T=)
c.372T=
c.671-448T= (n.671-448T=)
c.*3834T= (n.*3834T=)
c.345T=
c.788-448T= (n.788-448T=)
c.410-448T= (n.410-448T=)
c.413-448T= (n.413-448T=)
c.5-27529T= (n.5-27529T=)
c.-43-16959T= (n.-43-16959T=)
c.-99+33791T= (n.-99+33791T=)
n.4187T=
n.4228T=
17g.43091480A>CCA10593860BRCA1n.4115T>G
c.4051T>G (p.Leu1351Val)
c.3925T>G (p.Leu1309Val)
c.4048T>G (p.Leu1350Val)
c.3973T>G (p.Leu1325Val)
c.785-448T>G (n.785-448T>G)
c.647-448T>G (n.647-448T>G)
c.3163T>G (p.Leu1055Val)
c.3928T>G (p.Leu1310Val)
c.3910T>G (p.Leu1304Val)
c.665-448T>G (n.665-448T>G)
c.707-448T>G (n.707-448T>G)
c.372T>G
c.671-448T>G (n.671-448T>G)
c.*3834T>G (n.*3834T>G)
c.345T>G
c.788-448T>G (n.788-448T>G)
c.410-448T>G (n.410-448T>G)
c.413-448T>G (n.413-448T>G)
c.5-27529T>G (n.5-27529T>G)
c.-43-16959T>G (n.-43-16959T>G)
c.-99+33791T>G (n.-99+33791T>G)
n.4187T>G
n.4228T>G
17g.43091480A>GCA059000BRCA1n.4115T>C
c.4051T>C (p.Leu1351=)
c.3925T>C (p.Leu1309=)
c.4048T>C (p.Leu1350=)
c.3973T>C (p.Leu1325=)
c.785-448T>C (n.785-448T>C)
c.647-448T>C (n.647-448T>C)
c.3163T>C (p.Leu1055=)
c.3928T>C (p.Leu1310=)
c.3910T>C (p.Leu1304=)
c.665-448T>C (n.665-448T>C)
c.707-448T>C (n.707-448T>C)
c.372T>C
c.671-448T>C (n.671-448T>C)
c.*3834T>C (n.*3834T>C)
c.345T>C
c.788-448T>C (n.788-448T>C)
c.410-448T>C (n.410-448T>C)
c.413-448T>C (n.413-448T>C)
c.5-27529T>C (n.5-27529T>C)
c.-43-16959T>C (n.-43-16959T>C)
c.-99+33791T>C (n.-99+33791T>C)
n.4187T>C
n.4228T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43091480A>TCA10593861BRCA1n.4115T>A
c.4051T>A (p.Leu1351Met)
c.3925T>A (p.Leu1309Met)
c.4048T>A (p.Leu1350Met)
c.3973T>A (p.Leu1325Met)
c.785-448T>A (n.785-448T>A)
c.647-448T>A (n.647-448T>A)
c.3163T>A (p.Leu1055Met)
c.3928T>A (p.Leu1310Met)
c.3910T>A (p.Leu1304Met)
c.665-448T>A (n.665-448T>A)
c.707-448T>A (n.707-448T>A)
c.372T>A
c.671-448T>A (n.671-448T>A)
c.*3834T>A (n.*3834T>A)
c.345T>A
c.788-448T>A (n.788-448T>A)
c.410-448T>A (n.410-448T>A)
c.413-448T>A (n.413-448T>A)
c.5-27529T>A (n.5-27529T>A)
c.-43-16959T>A (n.-43-16959T>A)
c.-99+33791T>A (n.-99+33791T>A)
n.4187T>A
n.4228T>A
 dbSNP
17g.43091480_43091481insCCA002585BRCA1n.4114_4115insG
c.4050_4051insG (p.Leu1351ValfsTer5)
c.3924_3925insG (p.Leu1309ValfsTer5)
c.4047_4048insG (p.Leu1350ValfsTer5)
c.3972_3973insG (p.Leu1325ValfsTer5)
c.785-449_785-448insG (n.785-449_785-448insG)
c.647-449_647-448insG (n.647-449_647-448insG)
c.3162_3163insG (p.Leu1055ValfsTer5)
c.3927_3928insG (p.Leu1310ValfsTer5)
c.3909_3910insG (p.Leu1304ValfsTer5)
c.665-449_665-448insG (n.665-449_665-448insG)
c.707-449_707-448insG (n.707-449_707-448insG)
c.371_372insG
c.671-449_671-448insG (n.671-449_671-448insG)
c.*3833_*3834insG (n.*3833_*3834insG)
c.344_345insG
c.788-449_788-448insG (n.788-449_788-448insG)
c.410-449_410-448insG (n.410-449_410-448insG)
c.413-449_413-448insG (n.413-449_413-448insG)
c.5-27530_5-27529insG (n.5-27530_5-27529insG)
c.-43-16960_-43-16959insG (n.-43-16960_-43-16959insG)
c.-99+33790_-99+33791insG (n.-99+33790_-99+33791insG)
n.4186_4187insG
n.4227_4228insG
 ClinVar dbSNP
17g.43091481G>ACA059008BRCA1n.4114C>T
c.4050C>T (p.Gly1350=)
c.3924C>T (p.Gly1308=)
c.4047C>T (p.Gly1349=)
c.3972C>T (p.Gly1324=)
c.785-449C>T (n.785-449C>T)
c.647-449C>T (n.647-449C>T)
c.3162C>T (p.Gly1054=)
c.3927C>T (p.Gly1309=)
c.3909C>T (p.Gly1303=)
c.665-449C>T (n.665-449C>T)
c.707-449C>T (n.707-449C>T)
c.371C>T
c.671-449C>T (n.671-449C>T)
c.*3833C>T (n.*3833C>T)
c.344C>T
c.788-449C>T (n.788-449C>T)
c.410-449C>T (n.410-449C>T)
c.413-449C>T (n.413-449C>T)
c.5-27530C>T (n.5-27530C>T)
c.-43-16960C>T (n.-43-16960C>T)
c.-99+33790C>T (n.-99+33790C>T)
n.4186C>T
n.4227C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43091481G>CCA500231986BRCA1n.4114C>G
c.4050C>G (p.Gly1350=)
c.3924C>G (p.Gly1308=)
c.4047C>G (p.Gly1349=)
c.3972C>G (p.Gly1324=)
c.785-449C>G (n.785-449C>G)
c.647-449C>G (n.647-449C>G)
c.3162C>G (p.Gly1054=)
c.3927C>G (p.Gly1309=)
c.3909C>G (p.Gly1303=)
c.665-449C>G (n.665-449C>G)
c.707-449C>G (n.707-449C>G)
c.371C>G
c.671-449C>G (n.671-449C>G)
c.*3833C>G (n.*3833C>G)
c.344C>G
c.788-449C>G (n.788-449C>G)
c.410-449C>G (n.410-449C>G)
c.413-449C>G (n.413-449C>G)
c.5-27530C>G (n.5-27530C>G)
c.-43-16960C>G (n.-43-16960C>G)
c.-99+33790C>G (n.-99+33790C>G)
n.4186C>G
n.4227C>G
 ClinVar gnomAD v4
17g.43091481G=CA2260781961BRCA1n.4114C=
c.4050C= (p.Gly1350=)
c.3924C= (p.Gly1308=)
c.4047C= (p.Gly1349=)
c.3972C= (p.Gly1324=)
c.785-449C= (n.785-449C=)
c.647-449C= (n.647-449C=)
c.3162C= (p.Gly1054=)
c.3927C= (p.Gly1309=)
c.3909C= (p.Gly1303=)
c.665-449C= (n.665-449C=)
c.707-449C= (n.707-449C=)
c.371C=
c.671-449C= (n.671-449C=)
c.*3833C= (n.*3833C=)
c.344C=
c.788-449C= (n.788-449C=)
c.410-449C= (n.410-449C=)
c.413-449C= (n.413-449C=)
c.5-27530C= (n.5-27530C=)
c.-43-16960C= (n.-43-16960C=)
c.-99+33790C= (n.-99+33790C=)
n.4186C=
n.4227C=
17g.43091481G>TCA500231987BRCA1n.4114C>A
c.4050C>A (p.Gly1350=)
c.3924C>A (p.Gly1308=)
c.4047C>A (p.Gly1349=)
c.3972C>A (p.Gly1324=)
c.785-449C>A (n.785-449C>A)
c.647-449C>A (n.647-449C>A)
c.3162C>A (p.Gly1054=)
c.3927C>A (p.Gly1309=)
c.3909C>A (p.Gly1303=)
c.665-449C>A (n.665-449C>A)
c.707-449C>A (n.707-449C>A)
c.371C>A
c.671-449C>A (n.671-449C>A)
c.*3833C>A (n.*3833C>A)
c.344C>A
c.788-449C>A (n.788-449C>A)
c.410-449C>A (n.410-449C>A)
c.413-449C>A (n.413-449C>A)
c.5-27530C>A (n.5-27530C>A)
c.-43-16960C>A (n.-43-16960C>A)
c.-99+33790C>A (n.-99+33790C>A)
n.4186C>A
n.4227C>A
17g.43091482C>ACA10593862BRCA1n.4113G>T
c.4049G>T (p.Gly1350Val)
c.3923G>T (p.Gly1308Val)
c.4046G>T (p.Gly1349Val)
c.3971G>T (p.Gly1324Val)
c.785-450G>T (n.785-450G>T)
c.647-450G>T (n.647-450G>T)
c.3161G>T (p.Gly1054Val)
c.3926G>T (p.Gly1309Val)
c.3908G>T (p.Gly1303Val)
c.665-450G>T (n.665-450G>T)
c.707-450G>T (n.707-450G>T)
c.370G>T
c.671-450G>T (n.671-450G>T)
c.*3832G>T (n.*3832G>T)
c.343G>T
c.788-450G>T (n.788-450G>T)
c.410-450G>T (n.410-450G>T)
c.413-450G>T (n.413-450G>T)
c.5-27531G>T (n.5-27531G>T)
c.-43-16961G>T (n.-43-16961G>T)
c.-99+33789G>T (n.-99+33789G>T)
n.4185G>T
n.4226G>T
 ClinVar dbSNP
17g.43091482C=CA2260781962BRCA1n.4113G=
c.4049G= (p.Gly1350=)
c.3923G= (p.Gly1308=)
c.4046G= (p.Gly1349=)
c.3971G= (p.Gly1324=)
c.785-450G= (n.785-450G=)
c.647-450G= (n.647-450G=)
c.3161G= (p.Gly1054=)
c.3926G= (p.Gly1309=)
c.3908G= (p.Gly1303=)
c.665-450G= (n.665-450G=)
c.707-450G= (n.707-450G=)
c.370G=
c.671-450G= (n.671-450G=)
c.*3832G= (n.*3832G=)
c.343G=
c.788-450G= (n.788-450G=)
c.410-450G= (n.410-450G=)
c.413-450G= (n.413-450G=)
c.5-27531G= (n.5-27531G=)
c.-43-16961G= (n.-43-16961G=)
c.-99+33789G= (n.-99+33789G=)
n.4185G=
n.4226G=
17g.43091482C>GCA10593863BRCA1n.4113G>C
c.4049G>C (p.Gly1350Ala)
c.3923G>C (p.Gly1308Ala)
c.4046G>C (p.Gly1349Ala)
c.3971G>C (p.Gly1324Ala)
c.785-450G>C (n.785-450G>C)
c.647-450G>C (n.647-450G>C)
c.3161G>C (p.Gly1054Ala)
c.3926G>C (p.Gly1309Ala)
c.3908G>C (p.Gly1303Ala)
c.665-450G>C (n.665-450G>C)
c.707-450G>C (n.707-450G>C)
c.370G>C
c.671-450G>C (n.671-450G>C)
c.*3832G>C (n.*3832G>C)
c.343G>C
c.788-450G>C (n.788-450G>C)
c.410-450G>C (n.410-450G>C)
c.413-450G>C (n.413-450G>C)
c.5-27531G>C (n.5-27531G>C)
c.-43-16961G>C (n.-43-16961G>C)
c.-99+33789G>C (n.-99+33789G>C)
n.4185G>C
n.4226G>C
 dbSNP COSMIC COSMIC
17g.43091482C>TCA10593864BRCA1n.4113G>A
c.4049G>A (p.Gly1350Asp)
c.3923G>A (p.Gly1308Asp)
c.4046G>A (p.Gly1349Asp)
c.3971G>A (p.Gly1324Asp)
c.785-450G>A (n.785-450G>A)
c.647-450G>A (n.647-450G>A)
c.3161G>A (p.Gly1054Asp)
c.3926G>A (p.Gly1309Asp)
c.3908G>A (p.Gly1303Asp)
c.665-450G>A (n.665-450G>A)
c.707-450G>A (n.707-450G>A)
c.370G>A
c.671-450G>A (n.671-450G>A)
c.*3832G>A (n.*3832G>A)
c.343G>A
c.788-450G>A (n.788-450G>A)
c.410-450G>A (n.410-450G>A)
c.413-450G>A (n.413-450G>A)
c.5-27531G>A (n.5-27531G>A)
c.-43-16961G>A (n.-43-16961G>A)
c.-99+33789G>A (n.-99+33789G>A)
n.4185G>A
n.4226G>A
 dbSNP gnomAD v2 gnomAD v4
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.43091483C>ACA059014BRCA1n.4112G>T
c.4048G>T (p.Gly1350Cys)
c.3922G>T (p.Gly1308Cys)
c.4045G>T (p.Gly1349Cys)
c.3970G>T (p.Gly1324Cys)
c.785-451G>T (n.785-451G>T)
c.647-451G>T (n.647-451G>T)
c.3160G>T (p.Gly1054Cys)
c.3925G>T (p.Gly1309Cys)
c.3907G>T (p.Gly1303Cys)
c.665-451G>T (n.665-451G>T)
c.707-451G>T (n.707-451G>T)
c.369G>T
c.671-451G>T (n.671-451G>T)
c.*3831G>T (n.*3831G>T)
c.342G>T
c.788-451G>T (n.788-451G>T)
c.410-451G>T (n.410-451G>T)
c.413-451G>T (n.413-451G>T)
c.5-27532G>T (n.5-27532G>T)
c.-43-16962G>T (n.-43-16962G>T)
c.-99+33788G>T (n.-99+33788G>T)
n.4184G>T
n.4225G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43091483C=CA2260781963BRCA1n.4112G=
c.4048G= (p.Gly1350=)
c.3922G= (p.Gly1308=)
c.4045G= (p.Gly1349=)
c.3970G= (p.Gly1324=)
c.785-451G= (n.785-451G=)
c.647-451G= (n.647-451G=)
c.3160G= (p.Gly1054=)
c.3925G= (p.Gly1309=)
c.3907G= (p.Gly1303=)
c.665-451G= (n.665-451G=)
c.707-451G= (n.707-451G=)
c.369G=
c.671-451G= (n.671-451G=)
c.*3831G= (n.*3831G=)
c.342G=
c.788-451G= (n.788-451G=)
c.410-451G= (n.410-451G=)
c.413-451G= (n.413-451G=)
c.5-27532G= (n.5-27532G=)
c.-43-16962G= (n.-43-16962G=)
c.-99+33788G= (n.-99+33788G=)
n.4184G=
n.4225G=
17g.43091483C>GCA10593865BRCA1n.4112G>C
c.4048G>C (p.Gly1350Arg)
c.3922G>C (p.Gly1308Arg)
c.4045G>C (p.Gly1349Arg)
c.3970G>C (p.Gly1324Arg)
c.785-451G>C (n.785-451G>C)
c.647-451G>C (n.647-451G>C)
c.3160G>C (p.Gly1054Arg)
c.3925G>C (p.Gly1309Arg)
c.3907G>C (p.Gly1303Arg)
c.665-451G>C (n.665-451G>C)
c.707-451G>C (n.707-451G>C)
c.369G>C
c.671-451G>C (n.671-451G>C)
c.*3831G>C (n.*3831G>C)
c.342G>C
c.788-451G>C (n.788-451G>C)
c.410-451G>C (n.410-451G>C)
c.413-451G>C (n.413-451G>C)
c.5-27532G>C (n.5-27532G>C)
c.-43-16962G>C (n.-43-16962G>C)
c.-99+33788G>C (n.-99+33788G>C)
n.4184G>C
n.4225G>C
 ClinVar dbSNP
17g.43091483C>TCA10593866BRCA1n.4112G>A
c.4048G>A (p.Gly1350Ser)
c.3922G>A (p.Gly1308Ser)
c.4045G>A (p.Gly1349Ser)
c.3970G>A (p.Gly1324Ser)
c.785-451G>A (n.785-451G>A)
c.647-451G>A (n.647-451G>A)
c.3160G>A (p.Gly1054Ser)
c.3925G>A (p.Gly1309Ser)
c.3907G>A (p.Gly1303Ser)
c.665-451G>A (n.665-451G>A)
c.707-451G>A (n.707-451G>A)
c.369G>A
c.671-451G>A (n.671-451G>A)
c.*3831G>A (n.*3831G>A)
c.342G>A
c.788-451G>A (n.788-451G>A)
c.410-451G>A (n.410-451G>A)
c.413-451G>A (n.413-451G>A)
c.5-27532G>A (n.5-27532G>A)
c.-43-16962G>A (n.-43-16962G>A)
c.-99+33788G>A (n.-99+33788G>A)
n.4184G>A
n.4225G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43091483_43091484insTCA919844491BRCA1n.4111_4112insA
c.4047_4048insA (p.Gly1350ArgfsTer6)
c.3921_3922insA (p.Gly1308ArgfsTer6)
c.4044_4045insA (p.Gly1349ArgfsTer6)
c.3969_3970insA (p.Gly1324ArgfsTer6)
c.785-452_785-451insA (n.785-452_785-451insA)
c.647-452_647-451insA (n.647-452_647-451insA)
c.3159_3160insA (p.Gly1054ArgfsTer6)
c.3924_3925insA (p.Gly1309ArgfsTer6)
c.3906_3907insA (p.Gly1303ArgfsTer6)
c.665-452_665-451insA (n.665-452_665-451insA)
c.707-452_707-451insA (n.707-452_707-451insA)
c.368_369insA
c.671-452_671-451insA (n.671-452_671-451insA)
c.*3830_*3831insA (n.*3830_*3831insA)
c.341_342insA
c.788-452_788-451insA (n.788-452_788-451insA)
c.410-452_410-451insA (n.410-452_410-451insA)
c.413-452_413-451insA (n.413-452_413-451insA)
c.5-27533_5-27532insA (n.5-27533_5-27532insA)
c.-43-16963_-43-16962insA (n.-43-16963_-43-16962insA)
c.-99+33787_-99+33788insA (n.-99+33787_-99+33788insA)
n.4183_4184insA
n.4224_4225insA
 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

Number of alleles fetched