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_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.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.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.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.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
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43091467T>ACA10593832BRCA1n.4128A>T
c.4064A>T (p.Asn1355Ile)
c.3938A>T (p.Asn1313Ile)
c.4061A>T (p.Asn1354Ile)
c.3986A>T (p.Asn1329Ile)
c.785-435A>T (n.785-435A>T)
c.647-435A>T (n.647-435A>T)
c.3176A>T (p.Asn1059Ile)
c.3941A>T (p.Asn1314Ile)
c.3923A>T (p.Asn1308Ile)
c.665-435A>T (n.665-435A>T)
c.707-435A>T (n.707-435A>T)
c.385A>T
c.671-435A>T (n.671-435A>T)
c.*3847A>T (n.*3847A>T)
c.358A>T
c.788-435A>T (n.788-435A>T)
c.410-435A>T (n.410-435A>T)
c.413-435A>T (n.413-435A>T)
c.5-27516A>T (n.5-27516A>T)
c.-43-16946A>T (n.-43-16946A>T)
c.-99+33804A>T (n.-99+33804A>T)
n.4200A>T
n.4241A>T
 dbSNP
17g.43091467T>CCA10593833BRCA1n.4128A>G
c.4064A>G (p.Asn1355Ser)
c.3938A>G (p.Asn1313Ser)
c.4061A>G (p.Asn1354Ser)
c.3986A>G (p.Asn1329Ser)
c.785-435A>G (n.785-435A>G)
c.647-435A>G (n.647-435A>G)
c.3176A>G (p.Asn1059Ser)
c.3941A>G (p.Asn1314Ser)
c.3923A>G (p.Asn1308Ser)
c.665-435A>G (n.665-435A>G)
c.707-435A>G (n.707-435A>G)
c.385A>G
c.671-435A>G (n.671-435A>G)
c.*3847A>G (n.*3847A>G)
c.358A>G
c.788-435A>G (n.788-435A>G)
c.410-435A>G (n.410-435A>G)
c.413-435A>G (n.413-435A>G)
c.5-27516A>G (n.5-27516A>G)
c.-43-16946A>G (n.-43-16946A>G)
c.-99+33804A>G (n.-99+33804A>G)
n.4200A>G
n.4241A>G
 ClinVar dbSNP
17g.43091467T>GCA10593834BRCA1n.4128A>C
c.4064A>C (p.Asn1355Thr)
c.3938A>C (p.Asn1313Thr)
c.4061A>C (p.Asn1354Thr)
c.3986A>C (p.Asn1329Thr)
c.785-435A>C (n.785-435A>C)
c.647-435A>C (n.647-435A>C)
c.3176A>C (p.Asn1059Thr)
c.3941A>C (p.Asn1314Thr)
c.3923A>C (p.Asn1308Thr)
c.665-435A>C (n.665-435A>C)
c.707-435A>C (n.707-435A>C)
c.385A>C
c.671-435A>C (n.671-435A>C)
c.*3847A>C (n.*3847A>C)
c.358A>C
c.788-435A>C (n.788-435A>C)
c.410-435A>C (n.410-435A>C)
c.413-435A>C (n.413-435A>C)
c.5-27516A>C (n.5-27516A>C)
c.-43-16946A>C (n.-43-16946A>C)
c.-99+33804A>C (n.-99+33804A>C)
n.4200A>C
n.4241A>C
17g.43091467T=CA2260781951BRCA1n.4128A=
c.4064A= (p.Asn1355=)
c.3938A= (p.Asn1313=)
c.4061A= (p.Asn1354=)
c.3986A= (p.Asn1329=)
c.785-435A= (n.785-435A=)
c.647-435A= (n.647-435A=)
c.3176A= (p.Asn1059=)
c.3941A= (p.Asn1314=)
c.3923A= (p.Asn1308=)
c.665-435A= (n.665-435A=)
c.707-435A= (n.707-435A=)
c.385A=
c.671-435A= (n.671-435A=)
c.*3847A= (n.*3847A=)
c.358A=
c.788-435A= (n.788-435A=)
c.410-435A= (n.410-435A=)
c.413-435A= (n.413-435A=)
c.5-27516A= (n.5-27516A=)
c.-43-16946A= (n.-43-16946A=)
c.-99+33804A= (n.-99+33804A=)
n.4200A=
n.4241A=
17g.43091468dupCA1139665607BRCA1n.4128dup
c.4064dup (p.Asn1355LysfsTer13)
c.3938dup (p.Asn1313LysfsTer13)
c.4061dup (p.Asn1354LysfsTer13)
c.3986dup (p.Asn1329LysfsTer13)
c.785-435dup (n.785-435dup)
c.647-435dup (n.647-435dup)
c.3176dup (p.Asn1059LysfsTer13)
c.3941dup (p.Asn1314LysfsTer13)
c.3923dup (p.Asn1308LysfsTer13)
c.665-435dup (n.665-435dup)
c.707-435dup (n.707-435dup)
c.385dup
c.671-435dup (n.671-435dup)
c.4064dup (p.Asn1355LysfsTer26)
c.*3847dup (n.*3847dup)
c.358dup
c.788-435dup (n.788-435dup)
c.410-435dup (n.410-435dup)
c.413-435dup (n.413-435dup)
c.5-27516dup (n.5-27516dup)
c.-43-16946dup (n.-43-16946dup)
c.-99+33804dup (n.-99+33804dup)
n.4200dup
n.4241dup
 ClinVar dbSNP
17g.43091469_43091472delCA915950085BRCA1n.4125_4128del
c.4061_4064del (p.Asn1354IlefsTer11)
c.3935_3938del (p.Asn1312IlefsTer11)
c.4058_4061del (p.Asn1353IlefsTer11)
c.3983_3986del (p.Asn1328IlefsTer11)
c.785-438_785-435del (n.785-438_785-435del)
c.647-438_647-435del (n.647-438_647-435del)
c.3173_3176del (p.Asn1058IlefsTer11)
c.3938_3941del (p.Asn1313IlefsTer11)
c.3920_3923del (p.Asn1307IlefsTer11)
c.665-438_665-435del (n.665-438_665-435del)
c.707-438_707-435del (n.707-438_707-435del)
c.382_385del
c.671-438_671-435del (n.671-438_671-435del)
c.*3844_*3847del (n.*3844_*3847del)
c.355_358del
c.788-438_788-435del (n.788-438_788-435del)
c.410-438_410-435del (n.410-438_410-435del)
c.413-438_413-435del (n.413-438_413-435del)
c.5-27519_5-27516del (n.5-27519_5-27516del)
c.-43-16949_-43-16946del (n.-43-16949_-43-16946del)
c.-99+33801_-99+33804del (n.-99+33801_-99+33804del)
n.4197_4200del
n.4238_4241del
 ClinVar dbSNP
17g.43091468T>ACA10593835BRCA1n.4127A>T
c.4063A>T (p.Asn1355Tyr)
c.3937A>T (p.Asn1313Tyr)
c.4060A>T (p.Asn1354Tyr)
c.3985A>T (p.Asn1329Tyr)
c.785-436A>T (n.785-436A>T)
c.647-436A>T (n.647-436A>T)
c.3175A>T (p.Asn1059Tyr)
c.3940A>T (p.Asn1314Tyr)
c.3922A>T (p.Asn1308Tyr)
c.665-436A>T (n.665-436A>T)
c.707-436A>T (n.707-436A>T)
c.384A>T
c.671-436A>T (n.671-436A>T)
c.*3846A>T (n.*3846A>T)
c.357A>T
c.788-436A>T (n.788-436A>T)
c.410-436A>T (n.410-436A>T)
c.413-436A>T (n.413-436A>T)
c.5-27517A>T (n.5-27517A>T)
c.-43-16947A>T (n.-43-16947A>T)
c.-99+33803A>T (n.-99+33803A>T)
n.4199A>T
n.4240A>T
17g.43091468T>CCA10580536BRCA1n.4127A>G
c.4063A>G (p.Asn1355Asp)
c.3937A>G (p.Asn1313Asp)
c.4060A>G (p.Asn1354Asp)
c.3985A>G (p.Asn1329Asp)
c.785-436A>G (n.785-436A>G)
c.647-436A>G (n.647-436A>G)
c.3175A>G (p.Asn1059Asp)
c.3940A>G (p.Asn1314Asp)
c.3922A>G (p.Asn1308Asp)
c.665-436A>G (n.665-436A>G)
c.707-436A>G (n.707-436A>G)
c.384A>G
c.671-436A>G (n.671-436A>G)
c.*3846A>G (n.*3846A>G)
c.357A>G
c.788-436A>G (n.788-436A>G)
c.410-436A>G (n.410-436A>G)
c.413-436A>G (n.413-436A>G)
c.5-27517A>G (n.5-27517A>G)
c.-43-16947A>G (n.-43-16947A>G)
c.-99+33803A>G (n.-99+33803A>G)
n.4199A>G
n.4240A>G
 ClinVar dbSNP gnomAD v4
17g.43091468T>GCA10593836BRCA1n.4127A>C
c.4063A>C (p.Asn1355His)
c.3937A>C (p.Asn1313His)
c.4060A>C (p.Asn1354His)
c.3985A>C (p.Asn1329His)
c.785-436A>C (n.785-436A>C)
c.647-436A>C (n.647-436A>C)
c.3175A>C (p.Asn1059His)
c.3940A>C (p.Asn1314His)
c.3922A>C (p.Asn1308His)
c.665-436A>C (n.665-436A>C)
c.707-436A>C (n.707-436A>C)
c.384A>C
c.671-436A>C (n.671-436A>C)
c.*3846A>C (n.*3846A>C)
c.357A>C
c.788-436A>C (n.788-436A>C)
c.410-436A>C (n.410-436A>C)
c.413-436A>C (n.413-436A>C)
c.5-27517A>C (n.5-27517A>C)
c.-43-16947A>C (n.-43-16947A>C)
c.-99+33803A>C (n.-99+33803A>C)
n.4199A>C
n.4240A>C
17g.43091468T=CA2260781952BRCA1n.4127A=
c.4063A= (p.Asn1355=)
c.3937A= (p.Asn1313=)
c.4060A= (p.Asn1354=)
c.3985A= (p.Asn1329=)
c.785-436A= (n.785-436A=)
c.647-436A= (n.647-436A=)
c.3175A= (p.Asn1059=)
c.3940A= (p.Asn1314=)
c.3922A= (p.Asn1308=)
c.665-436A= (n.665-436A=)
c.707-436A= (n.707-436A=)
c.384A=
c.671-436A= (n.671-436A=)
c.*3846A= (n.*3846A=)
c.357A=
c.788-436A= (n.788-436A=)
c.410-436A= (n.410-436A=)
c.413-436A= (n.413-436A=)
c.5-27517A= (n.5-27517A=)
c.-43-16947A= (n.-43-16947A=)
c.-99+33803A= (n.-99+33803A=)
n.4199A=
n.4240A=
17g.43091469A>CCA10593837BRCA1n.4126T>G
c.4062T>G (p.Asn1354Lys)
c.3936T>G (p.Asn1312Lys)
c.4059T>G (p.Asn1353Lys)
c.3984T>G (p.Asn1328Lys)
c.785-437T>G (n.785-437T>G)
c.647-437T>G (n.647-437T>G)
c.3174T>G (p.Asn1058Lys)
c.3939T>G (p.Asn1313Lys)
c.3921T>G (p.Asn1307Lys)
c.665-437T>G (n.665-437T>G)
c.707-437T>G (n.707-437T>G)
c.383T>G
c.671-437T>G (n.671-437T>G)
c.*3845T>G (n.*3845T>G)
c.356T>G
c.788-437T>G (n.788-437T>G)
c.410-437T>G (n.410-437T>G)
c.413-437T>G (n.413-437T>G)
c.5-27518T>G (n.5-27518T>G)
c.-43-16948T>G (n.-43-16948T>G)
c.-99+33802T>G (n.-99+33802T>G)
n.4198T>G
n.4239T>G
17g.43091469A>GCA500231982BRCA1n.4126T>C
c.4062T>C (p.Asn1354=)
c.3936T>C (p.Asn1312=)
c.4059T>C (p.Asn1353=)
c.3984T>C (p.Asn1328=)
c.785-437T>C (n.785-437T>C)
c.647-437T>C (n.647-437T>C)
c.3174T>C (p.Asn1058=)
c.3939T>C (p.Asn1313=)
c.3921T>C (p.Asn1307=)
c.665-437T>C (n.665-437T>C)
c.707-437T>C (n.707-437T>C)
c.383T>C
c.671-437T>C (n.671-437T>C)
c.*3845T>C (n.*3845T>C)
c.356T>C
c.788-437T>C (n.788-437T>C)
c.410-437T>C (n.410-437T>C)
c.413-437T>C (n.413-437T>C)
c.5-27518T>C (n.5-27518T>C)
c.-43-16948T>C (n.-43-16948T>C)
c.-99+33802T>C (n.-99+33802T>C)
n.4198T>C
n.4239T>C
17g.43091469A>TCA10593838BRCA1n.4126T>A
c.4062T>A (p.Asn1354Lys)
c.3936T>A (p.Asn1312Lys)
c.4059T>A (p.Asn1353Lys)
c.3984T>A (p.Asn1328Lys)
c.785-437T>A (n.785-437T>A)
c.647-437T>A (n.647-437T>A)
c.3174T>A (p.Asn1058Lys)
c.3939T>A (p.Asn1313Lys)
c.3921T>A (p.Asn1307Lys)
c.665-437T>A (n.665-437T>A)
c.707-437T>A (n.707-437T>A)
c.383T>A
c.671-437T>A (n.671-437T>A)
c.*3845T>A (n.*3845T>A)
c.356T>A
c.788-437T>A (n.788-437T>A)
c.410-437T>A (n.410-437T>A)
c.413-437T>A (n.413-437T>A)
c.5-27518T>A (n.5-27518T>A)
c.-43-16948T>A (n.-43-16948T>A)
c.-99+33802T>A (n.-99+33802T>A)
n.4198T>A
n.4239T>A
 gnomAD v4
17g.43091469_43091474delinsATTTTCCA2260781953BRCA1n.4121_4126delinsGAAAAT
c.4057_4062delinsGAAAAT (p.Glu1353=)
c.3931_3936delinsGAAAAT (p.Glu1311=)
c.4054_4059delinsGAAAAT (p.Glu1352=)
c.3979_3984delinsGAAAAT (p.Glu1327=)
c.785-442_785-437delinsGAAAAT (n.785-442_785-437delinsGAAAAT)
c.647-442_647-437delinsGAAAAT (n.647-442_647-437delinsGAAAAT)
c.3169_3174delinsGAAAAT (p.Glu1057=)
c.3934_3939delinsGAAAAT (p.Glu1312=)
c.3916_3921delinsGAAAAT (p.Glu1306=)
c.665-442_665-437delinsGAAAAT (n.665-442_665-437delinsGAAAAT)
c.707-442_707-437delinsGAAAAT (n.707-442_707-437delinsGAAAAT)
c.378_383delinsGAAAAT
c.671-442_671-437delinsGAAAAT (n.671-442_671-437delinsGAAAAT)
c.*3840_*3845delinsGAAAAT (n.*3840_*3845delinsGAAAAT)
c.351_356delinsGAAAAT
c.788-442_788-437delinsGAAAAT (n.788-442_788-437delinsGAAAAT)
c.410-442_410-437delinsGAAAAT (n.410-442_410-437delinsGAAAAT)
c.413-442_413-437delinsGAAAAT (n.413-442_413-437delinsGAAAAT)
c.5-27523_5-27518delinsGAAAAT (n.5-27523_5-27518delinsGAAAAT)
c.-43-16953_-43-16948delinsGAAAAT (n.-43-16953_-43-16948delinsGAAAAT)
c.-99+33797_-99+33802delinsGAAAAT (n.-99+33797_-99+33802delinsGAAAAT)
n.4193_4198delinsGAAAAT
n.4234_4239delinsGAAAAT
17g.43091470T>ACA10593839BRCA1n.4125A>T
c.4061A>T (p.Asn1354Ile)
c.3935A>T (p.Asn1312Ile)
c.4058A>T (p.Asn1353Ile)
c.3983A>T (p.Asn1328Ile)
c.785-438A>T (n.785-438A>T)
c.647-438A>T (n.647-438A>T)
c.3173A>T (p.Asn1058Ile)
c.3938A>T (p.Asn1313Ile)
c.3920A>T (p.Asn1307Ile)
c.665-438A>T (n.665-438A>T)
c.707-438A>T (n.707-438A>T)
c.382A>T
c.671-438A>T (n.671-438A>T)
c.*3844A>T (n.*3844A>T)
c.355A>T
c.788-438A>T (n.788-438A>T)
c.410-438A>T (n.410-438A>T)
c.413-438A>T (n.413-438A>T)
c.5-27519A>T (n.5-27519A>T)
c.-43-16949A>T (n.-43-16949A>T)
c.-99+33801A>T (n.-99+33801A>T)
n.4197A>T
n.4238A>T
17g.43091470T>CCA10593840BRCA1n.4125A>G
c.4061A>G (p.Asn1354Ser)
c.3935A>G (p.Asn1312Ser)
c.4058A>G (p.Asn1353Ser)
c.3983A>G (p.Asn1328Ser)
c.785-438A>G (n.785-438A>G)
c.647-438A>G (n.647-438A>G)
c.3173A>G (p.Asn1058Ser)
c.3938A>G (p.Asn1313Ser)
c.3920A>G (p.Asn1307Ser)
c.665-438A>G (n.665-438A>G)
c.707-438A>G (n.707-438A>G)
c.382A>G
c.671-438A>G (n.671-438A>G)
c.*3844A>G (n.*3844A>G)
c.355A>G
c.788-438A>G (n.788-438A>G)
c.410-438A>G (n.410-438A>G)
c.413-438A>G (n.413-438A>G)
c.5-27519A>G (n.5-27519A>G)
c.-43-16949A>G (n.-43-16949A>G)
c.-99+33801A>G (n.-99+33801A>G)
n.4197A>G
n.4238A>G
 ClinVar dbSNP
17g.43091470T>GCA058991BRCA1n.4125A>C
c.4061A>C (p.Asn1354Thr)
c.3935A>C (p.Asn1312Thr)
c.4058A>C (p.Asn1353Thr)
c.3983A>C (p.Asn1328Thr)
c.785-438A>C (n.785-438A>C)
c.647-438A>C (n.647-438A>C)
c.3173A>C (p.Asn1058Thr)
c.3938A>C (p.Asn1313Thr)
c.3920A>C (p.Asn1307Thr)
c.665-438A>C (n.665-438A>C)
c.707-438A>C (n.707-438A>C)
c.382A>C
c.671-438A>C (n.671-438A>C)
c.*3844A>C (n.*3844A>C)
c.355A>C
c.788-438A>C (n.788-438A>C)
c.410-438A>C (n.410-438A>C)
c.413-438A>C (n.413-438A>C)
c.5-27519A>C (n.5-27519A>C)
c.-43-16949A>C (n.-43-16949A>C)
c.-99+33801A>C (n.-99+33801A>C)
n.4197A>C
n.4238A>C
 dbSNP ExAC gnomAD v2
17g.43091470T=CA2260781954BRCA1n.4125A=
c.4061A= (p.Asn1354=)
c.3935A= (p.Asn1312=)
c.4058A= (p.Asn1353=)
c.3983A= (p.Asn1328=)
c.785-438A= (n.785-438A=)
c.647-438A= (n.647-438A=)
c.3173A= (p.Asn1058=)
c.3938A= (p.Asn1313=)
c.3920A= (p.Asn1307=)
c.665-438A= (n.665-438A=)
c.707-438A= (n.707-438A=)
c.382A=
c.671-438A= (n.671-438A=)
c.*3844A= (n.*3844A=)
c.355A=
c.788-438A= (n.788-438A=)
c.410-438A= (n.410-438A=)
c.413-438A= (n.413-438A=)
c.5-27519A= (n.5-27519A=)
c.-43-16949A= (n.-43-16949A=)
c.-99+33801A= (n.-99+33801A=)
n.4197A=
n.4238A=
17g.43091472_43091476delCA002591BRCA1n.4121_4125del
c.4057_4061del (p.Glu1353Ter)
c.3931_3935del (p.Glu1311Ter)
c.4054_4058del (p.Glu1352Ter)
c.3979_3983del (p.Glu1327Ter)
c.785-442_785-438del (n.785-442_785-438del)
c.647-442_647-438del (n.647-442_647-438del)
c.3169_3173del (p.Glu1057Ter)
c.3934_3938del (p.Glu1312Ter)
c.3916_3920del (p.Glu1306Ter)
c.665-442_665-438del (n.665-442_665-438del)
c.707-442_707-438del (n.707-442_707-438del)
c.378_382del
c.671-442_671-438del (n.671-442_671-438del)
c.*3840_*3844del (n.*3840_*3844del)
c.351_355del
c.788-442_788-438del (n.788-442_788-438del)
c.410-442_410-438del (n.410-442_410-438del)
c.413-442_413-438del (n.413-442_413-438del)
c.5-27523_5-27519del (n.5-27523_5-27519del)
c.-43-16953_-43-16949del (n.-43-16953_-43-16949del)
c.-99+33797_-99+33801del (n.-99+33797_-99+33801del)
n.4193_4197del
n.4234_4238del
 ClinVar dbSNP
17g.43091471T>ACA10593841BRCA1n.4124A>T
c.4060A>T (p.Asn1354Tyr)
c.3934A>T (p.Asn1312Tyr)
c.4057A>T (p.Asn1353Tyr)
c.3982A>T (p.Asn1328Tyr)
c.785-439A>T (n.785-439A>T)
c.647-439A>T (n.647-439A>T)
c.3172A>T (p.Asn1058Tyr)
c.3937A>T (p.Asn1313Tyr)
c.3919A>T (p.Asn1307Tyr)
c.665-439A>T (n.665-439A>T)
c.707-439A>T (n.707-439A>T)
c.381A>T
c.671-439A>T (n.671-439A>T)
c.*3843A>T (n.*3843A>T)
c.354A>T
c.788-439A>T (n.788-439A>T)
c.410-439A>T (n.410-439A>T)
c.413-439A>T (n.413-439A>T)
c.5-27520A>T (n.5-27520A>T)
c.-43-16950A>T (n.-43-16950A>T)
c.-99+33800A>T (n.-99+33800A>T)
n.4196A>T
n.4237A>T
17g.43091471T>CCA10593842BRCA1n.4124A>G
c.4060A>G (p.Asn1354Asp)
c.3934A>G (p.Asn1312Asp)
c.4057A>G (p.Asn1353Asp)
c.3982A>G (p.Asn1328Asp)
c.785-439A>G (n.785-439A>G)
c.647-439A>G (n.647-439A>G)
c.3172A>G (p.Asn1058Asp)
c.3937A>G (p.Asn1313Asp)
c.3919A>G (p.Asn1307Asp)
c.665-439A>G (n.665-439A>G)
c.707-439A>G (n.707-439A>G)
c.381A>G
c.671-439A>G (n.671-439A>G)
c.*3843A>G (n.*3843A>G)
c.354A>G
c.788-439A>G (n.788-439A>G)
c.410-439A>G (n.410-439A>G)
c.413-439A>G (n.413-439A>G)
c.5-27520A>G (n.5-27520A>G)
c.-43-16950A>G (n.-43-16950A>G)
c.-99+33800A>G (n.-99+33800A>G)
n.4196A>G
n.4237A>G
 ClinVar gnomAD v4
17g.43091471T>GCA10593843BRCA1n.4124A>C
c.4060A>C (p.Asn1354His)
c.3934A>C (p.Asn1312His)
c.4057A>C (p.Asn1353His)
c.3982A>C (p.Asn1328His)
c.785-439A>C (n.785-439A>C)
c.647-439A>C (n.647-439A>C)
c.3172A>C (p.Asn1058His)
c.3937A>C (p.Asn1313His)
c.3919A>C (p.Asn1307His)
c.665-439A>C (n.665-439A>C)
c.707-439A>C (n.707-439A>C)
c.381A>C
c.671-439A>C (n.671-439A>C)
c.*3843A>C (n.*3843A>C)
c.354A>C
c.788-439A>C (n.788-439A>C)
c.410-439A>C (n.410-439A>C)
c.413-439A>C (n.413-439A>C)
c.5-27520A>C (n.5-27520A>C)
c.-43-16950A>C (n.-43-16950A>C)
c.-99+33800A>C (n.-99+33800A>C)
n.4196A>C
n.4237A>C
 dbSNP
17g.43091472T>ACA10593844BRCA1n.4123A>T
c.4059A>T (p.Glu1353Asp)
c.3933A>T (p.Glu1311Asp)
c.4056A>T (p.Glu1352Asp)
c.3981A>T (p.Glu1327Asp)
c.785-440A>T (n.785-440A>T)
c.647-440A>T (n.647-440A>T)
c.3171A>T (p.Glu1057Asp)
c.3936A>T (p.Glu1312Asp)
c.3918A>T (p.Glu1306Asp)
c.665-440A>T (n.665-440A>T)
c.707-440A>T (n.707-440A>T)
c.380A>T
c.671-440A>T (n.671-440A>T)
c.*3842A>T (n.*3842A>T)
c.353A>T
c.788-440A>T (n.788-440A>T)
c.410-440A>T (n.410-440A>T)
c.413-440A>T (n.413-440A>T)
c.5-27521A>T (n.5-27521A>T)
c.-43-16951A>T (n.-43-16951A>T)
c.-99+33799A>T (n.-99+33799A>T)
n.4195A>T
n.4236A>T
 dbSNP
17g.43091472T>CCA500231983BRCA1n.4123A>G
c.4059A>G (p.Glu1353=)
c.3933A>G (p.Glu1311=)
c.4056A>G (p.Glu1352=)
c.3981A>G (p.Glu1327=)
c.785-440A>G (n.785-440A>G)
c.647-440A>G (n.647-440A>G)
c.3171A>G (p.Glu1057=)
c.3936A>G (p.Glu1312=)
c.3918A>G (p.Glu1306=)
c.665-440A>G (n.665-440A>G)
c.707-440A>G (n.707-440A>G)
c.380A>G
c.671-440A>G (n.671-440A>G)
c.*3842A>G (n.*3842A>G)
c.353A>G
c.788-440A>G (n.788-440A>G)
c.410-440A>G (n.410-440A>G)
c.413-440A>G (n.413-440A>G)
c.5-27521A>G (n.5-27521A>G)
c.-43-16951A>G (n.-43-16951A>G)
c.-99+33799A>G (n.-99+33799A>G)
n.4195A>G
n.4236A>G
 dbSNP
17g.43091472T>GCA10593845BRCA1n.4123A>C
c.4059A>C (p.Glu1353Asp)
c.3933A>C (p.Glu1311Asp)
c.4056A>C (p.Glu1352Asp)
c.3981A>C (p.Glu1327Asp)
c.785-440A>C (n.785-440A>C)
c.647-440A>C (n.647-440A>C)
c.3171A>C (p.Glu1057Asp)
c.3936A>C (p.Glu1312Asp)
c.3918A>C (p.Glu1306Asp)
c.665-440A>C (n.665-440A>C)
c.707-440A>C (n.707-440A>C)
c.380A>C
c.671-440A>C (n.671-440A>C)
c.*3842A>C (n.*3842A>C)
c.353A>C
c.788-440A>C (n.788-440A>C)
c.410-440A>C (n.410-440A>C)
c.413-440A>C (n.413-440A>C)
c.5-27521A>C (n.5-27521A>C)
c.-43-16951A>C (n.-43-16951A>C)
c.-99+33799A>C (n.-99+33799A>C)
n.4195A>C
n.4236A>C
17g.43091473T>ACA10593846BRCA1n.4122A>T
c.4058A>T (p.Glu1353Val)
c.3932A>T (p.Glu1311Val)
c.4055A>T (p.Glu1352Val)
c.3980A>T (p.Glu1327Val)
c.785-441A>T (n.785-441A>T)
c.647-441A>T (n.647-441A>T)
c.3170A>T (p.Glu1057Val)
c.3935A>T (p.Glu1312Val)
c.3917A>T (p.Glu1306Val)
c.665-441A>T (n.665-441A>T)
c.707-441A>T (n.707-441A>T)
c.379A>T
c.671-441A>T (n.671-441A>T)
c.*3841A>T (n.*3841A>T)
c.352A>T
c.788-441A>T (n.788-441A>T)
c.410-441A>T (n.410-441A>T)
c.413-441A>T (n.413-441A>T)
c.5-27522A>T (n.5-27522A>T)
c.-43-16952A>T (n.-43-16952A>T)
c.-99+33798A>T (n.-99+33798A>T)
n.4194A>T
n.4235A>T
17g.43091473T>CCA10593847BRCA1n.4122A>G
c.4058A>G (p.Glu1353Gly)
c.3932A>G (p.Glu1311Gly)
c.4055A>G (p.Glu1352Gly)
c.3980A>G (p.Glu1327Gly)
c.785-441A>G (n.785-441A>G)
c.647-441A>G (n.647-441A>G)
c.3170A>G (p.Glu1057Gly)
c.3935A>G (p.Glu1312Gly)
c.3917A>G (p.Glu1306Gly)
c.665-441A>G (n.665-441A>G)
c.707-441A>G (n.707-441A>G)
c.379A>G
c.671-441A>G (n.671-441A>G)
c.*3841A>G (n.*3841A>G)
c.352A>G
c.788-441A>G (n.788-441A>G)
c.410-441A>G (n.410-441A>G)
c.413-441A>G (n.413-441A>G)
c.5-27522A>G (n.5-27522A>G)
c.-43-16952A>G (n.-43-16952A>G)
c.-99+33798A>G (n.-99+33798A>G)
n.4194A>G
n.4235A>G
 dbSNP
17g.43091473T>GCA10593848BRCA1n.4122A>C
c.4058A>C (p.Glu1353Ala)
c.3932A>C (p.Glu1311Ala)
c.4055A>C (p.Glu1352Ala)
c.3980A>C (p.Glu1327Ala)
c.785-441A>C (n.785-441A>C)
c.647-441A>C (n.647-441A>C)
c.3170A>C (p.Glu1057Ala)
c.3935A>C (p.Glu1312Ala)
c.3917A>C (p.Glu1306Ala)
c.665-441A>C (n.665-441A>C)
c.707-441A>C (n.707-441A>C)
c.379A>C
c.671-441A>C (n.671-441A>C)
c.*3841A>C (n.*3841A>C)
c.352A>C
c.788-441A>C (n.788-441A>C)
c.410-441A>C (n.410-441A>C)
c.413-441A>C (n.413-441A>C)
c.5-27522A>C (n.5-27522A>C)
c.-43-16952A>C (n.-43-16952A>C)
c.-99+33798A>C (n.-99+33798A>C)
n.4194A>C
n.4235A>C
17g.43091474delCA2733925045BRCA1n.4121del
c.4057del (p.Glu1353LysfsTer13)
c.3931del (p.Glu1311LysfsTer13)
c.4054del (p.Glu1352LysfsTer13)
c.3979del (p.Glu1327LysfsTer13)
c.785-442del (n.785-442del)
c.647-442del (n.647-442del)
c.3169del (p.Glu1057LysfsTer13)
c.3934del (p.Glu1312LysfsTer13)
c.3916del (p.Glu1306LysfsTer13)
c.665-442del (n.665-442del)
c.707-442del (n.707-442del)
c.378del
c.671-442del (n.671-442del)
c.*3840del (n.*3840del)
c.351del
c.788-442del (n.788-442del)
c.410-442del (n.410-442del)
c.413-442del (n.413-442del)
c.5-27523del (n.5-27523del)
c.-43-16953del (n.-43-16953del)
c.-99+33797del (n.-99+33797del)
n.4193del
n.4234del
 dbSNP

Number of alleles fetched