| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43084852_43094147del | CA645369660 | BRCA1 | c.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 |
| 17 | g.43090942_43094828del | CA2499224437 | BRCA1 | c.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 |
| 17 | g.43090946_43097291del | CA2580061395 | BRCA1 | c.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 |
| 17 | g.43091424_43091540delinsGGTTCCAATACCTAAGTTTGAATCCATGCTTTGCTCTTCTTGATTATTTTCTTCCAAGCCCGTTCCTCTTTCTTCATCATCTGAAACCAATTCCTTGTCACTCAGACCAACTCCCTG | CA2260781901 | BRCA1 | n.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 | |
| 17 | g.43091425_43091540delinsAT | CA1139665604 | BRCA1 | n.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 |
| 17 | g.43091433_43091540del | CA2638062434 | BRCA1 | n.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 |
| 17 | g.43091435_43094858dup | CA2579756134 | BRCA1 | n.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 | |
| 17 | g.43091435_43094859dup | CA2579756133 | BRCA1 | n.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 | |
| 17 | g.43091437_43094862del | CA2580618251 | BRCA1 | n.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 | |
| 17 | g.43091489_43091493delinsCTCTT | CA2260781969 | BRCA1 | n.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 | |
| 17 | g.43091494_43091497del | CA002577 | BRCA1 | n.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 |
| 17 | g.43091491_43091493delinsCTT | CA2260781973 | BRCA1 | n.4102_4104delinsAAG c.4038_4040delinsAAG (p.Glu1346=) c.3912_3914delinsAAG (p.Glu1304=) c.4035_4037delinsAAG (p.Glu1345=) c.3960_3962delinsAAG (p.Glu1320=) c.785-461_785-459delinsAAG (n.785-461_785-459delinsAAG) c.647-461_647-459delinsAAG (n.647-461_647-459delinsAAG) c.3150_3152delinsAAG (p.Glu1050=) c.3915_3917delinsAAG (p.Glu1305=) c.3897_3899delinsAAG (p.Glu1299=) c.665-461_665-459delinsAAG (n.665-461_665-459delinsAAG) c.707-461_707-459delinsAAG (n.707-461_707-459delinsAAG) c.359_361delinsAAG c.671-461_671-459delinsAAG (n.671-461_671-459delinsAAG) c.*3821_*3823delinsAAG (n.*3821_*3823delinsAAG) c.332_334delinsAAG c.788-461_788-459delinsAAG (n.788-461_788-459delinsAAG) c.410-461_410-459delinsAAG (n.410-461_410-459delinsAAG) c.413-461_413-459delinsAAG (n.413-461_413-459delinsAAG) c.5-27542_5-27540delinsAAG (n.5-27542_5-27540delinsAAG) c.-43-16972_-43-16970delinsAAG (n.-43-16972_-43-16970delinsAAG) c.-99+33778_-99+33780delinsAAG (n.-99+33778_-99+33780delinsAAG) n.4174_4176delinsAAG n.4215_4217delinsAAG | |
| 17 | g.43091494dup | CA10589700 | BRCA1 | n.4103dup c.4039dup (p.Arg1347LysfsTer9) c.3913dup (p.Arg1305LysfsTer9) c.4036dup (p.Arg1346LysfsTer9) c.3961dup (p.Arg1321LysfsTer9) c.785-460dup (n.785-460dup) c.647-460dup (n.647-460dup) c.3151dup (p.Arg1051LysfsTer9) c.3916dup (p.Arg1306LysfsTer9) c.3898dup (p.Arg1300LysfsTer9) c.665-460dup (n.665-460dup) c.707-460dup (n.707-460dup) c.360dup c.671-460dup (n.671-460dup) c.*3822dup (n.*3822dup) c.333dup c.788-460dup (n.788-460dup) c.410-460dup (n.410-460dup) c.413-460dup (n.413-460dup) c.5-27541dup (n.5-27541dup) c.-43-16971dup (n.-43-16971dup) c.-99+33779dup (n.-99+33779dup) n.4175dup n.4216dup | ClinVar dbSNP |
| 17 | g.43091493_43091494del | CA002576 | BRCA1 | n.4102_4103del c.4038_4039del (p.Gly1348AsnfsTer7) c.3912_3913del (p.Gly1306AsnfsTer7) c.4035_4036del (p.Gly1347AsnfsTer7) c.3960_3961del (p.Gly1322AsnfsTer7) c.785-461_785-460del (n.785-461_785-460del) c.647-461_647-460del (n.647-461_647-460del) c.3150_3151del (p.Gly1052AsnfsTer7) c.3915_3916del (p.Gly1307AsnfsTer7) c.3897_3898del (p.Gly1301AsnfsTer7) c.665-461_665-460del (n.665-461_665-460del) c.707-461_707-460del (n.707-461_707-460del) c.359_360del c.671-461_671-460del (n.671-461_671-460del) c.*3821_*3822del (n.*3821_*3822del) c.332_333del c.788-461_788-460del (n.788-461_788-460del) c.410-461_410-460del (n.410-461_410-460del) c.413-461_413-460del (n.413-461_413-460del) c.5-27542_5-27541del (n.5-27542_5-27541del) c.-43-16972_-43-16971del (n.-43-16972_-43-16971del) c.-99+33778_-99+33779del (n.-99+33778_-99+33779del) n.4174_4175del n.4215_4216del | ClinVar dbSNP |
| 17 | g.43091492_43091495delinsTTTC | CA2260781974 | BRCA1 | n.4100_4103delinsGAAA c.4036_4039delinsGAAA (p.Glu1346=) c.3910_3913delinsGAAA (p.Glu1304=) c.4033_4036delinsGAAA (p.Glu1345=) c.3958_3961delinsGAAA (p.Glu1320=) c.785-463_785-460delinsGAAA (n.785-463_785-460delinsGAAA) c.647-463_647-460delinsGAAA (n.647-463_647-460delinsGAAA) c.3148_3151delinsGAAA (p.Glu1050=) c.3913_3916delinsGAAA (p.Glu1305=) c.3895_3898delinsGAAA (p.Glu1299=) c.665-463_665-460delinsGAAA (n.665-463_665-460delinsGAAA) c.707-463_707-460delinsGAAA (n.707-463_707-460delinsGAAA) c.357_360delinsGAAA c.671-463_671-460delinsGAAA (n.671-463_671-460delinsGAAA) c.*3819_*3822delinsGAAA (n.*3819_*3822delinsGAAA) c.330_333delinsGAAA c.788-463_788-460delinsGAAA (n.788-463_788-460delinsGAAA) c.410-463_410-460delinsGAAA (n.410-463_410-460delinsGAAA) c.413-463_413-460delinsGAAA (n.413-463_413-460delinsGAAA) c.5-27544_5-27541delinsGAAA (n.5-27544_5-27541delinsGAAA) c.-43-16974_-43-16971delinsGAAA (n.-43-16974_-43-16971delinsGAAA) c.-99+33776_-99+33779delinsGAAA (n.-99+33776_-99+33779delinsGAAA) n.4172_4175delinsGAAA n.4213_4216delinsGAAA | |
| 17 | g.43091493T>A | CA10593881 | BRCA1 | n.4102A>T c.4038A>T (p.Glu1346Asp) c.3912A>T (p.Glu1304Asp) c.4035A>T (p.Glu1345Asp) c.3960A>T (p.Glu1320Asp) c.785-461A>T (n.785-461A>T) c.647-461A>T (n.647-461A>T) c.3150A>T (p.Glu1050Asp) c.3915A>T (p.Glu1305Asp) c.3897A>T (p.Glu1299Asp) c.665-461A>T (n.665-461A>T) c.707-461A>T (n.707-461A>T) c.359A>T c.671-461A>T (n.671-461A>T) c.*3821A>T (n.*3821A>T) c.332A>T c.788-461A>T (n.788-461A>T) c.410-461A>T (n.410-461A>T) c.413-461A>T (n.413-461A>T) c.5-27542A>T (n.5-27542A>T) c.-43-16972A>T (n.-43-16972A>T) c.-99+33778A>T (n.-99+33778A>T) n.4174A>T n.4215A>T | |
| 17 | g.43091493T>C | CA500231995 | BRCA1 | n.4102A>G c.4038A>G (p.Glu1346=) c.3912A>G (p.Glu1304=) c.4035A>G (p.Glu1345=) c.3960A>G (p.Glu1320=) c.785-461A>G (n.785-461A>G) c.647-461A>G (n.647-461A>G) c.3150A>G (p.Glu1050=) c.3915A>G (p.Glu1305=) c.3897A>G (p.Glu1299=) c.665-461A>G (n.665-461A>G) c.707-461A>G (n.707-461A>G) c.359A>G c.671-461A>G (n.671-461A>G) c.*3821A>G (n.*3821A>G) c.332A>G c.788-461A>G (n.788-461A>G) c.410-461A>G (n.410-461A>G) c.413-461A>G (n.413-461A>G) c.5-27542A>G (n.5-27542A>G) c.-43-16972A>G (n.-43-16972A>G) c.-99+33778A>G (n.-99+33778A>G) n.4174A>G n.4215A>G | ClinVar dbSNP |
| 17 | g.43091493T>G | CA10593882 | BRCA1 | n.4102A>C c.4038A>C (p.Glu1346Asp) c.3912A>C (p.Glu1304Asp) c.4035A>C (p.Glu1345Asp) c.3960A>C (p.Glu1320Asp) c.785-461A>C (n.785-461A>C) c.647-461A>C (n.647-461A>C) c.3150A>C (p.Glu1050Asp) c.3915A>C (p.Glu1305Asp) c.3897A>C (p.Glu1299Asp) c.665-461A>C (n.665-461A>C) c.707-461A>C (n.707-461A>C) c.359A>C c.671-461A>C (n.671-461A>C) c.*3821A>C (n.*3821A>C) c.332A>C c.788-461A>C (n.788-461A>C) c.410-461A>C (n.410-461A>C) c.413-461A>C (n.413-461A>C) c.5-27542A>C (n.5-27542A>C) c.-43-16972A>C (n.-43-16972A>C) c.-99+33778A>C (n.-99+33778A>C) n.4174A>C n.4215A>C | ClinVar dbSNP |
| 17 | g.43091493T= | CA2260781976 | BRCA1 | n.4102A= c.4038A= (p.Glu1346=) c.3912A= (p.Glu1304=) c.4035A= (p.Glu1345=) c.3960A= (p.Glu1320=) c.785-461A= (n.785-461A=) c.647-461A= (n.647-461A=) c.3150A= (p.Glu1050=) c.3915A= (p.Glu1305=) c.3897A= (p.Glu1299=) c.665-461A= (n.665-461A=) c.707-461A= (n.707-461A=) c.359A= c.671-461A= (n.671-461A=) c.*3821A= (n.*3821A=) c.332A= c.788-461A= (n.788-461A=) c.410-461A= (n.410-461A=) c.413-461A= (n.413-461A=) c.5-27542A= (n.5-27542A=) c.-43-16972A= (n.-43-16972A=) c.-99+33778A= (n.-99+33778A=) n.4174A= n.4215A= | |
| 17 | g.43091496_43091498del | CA002574 | BRCA1 | n.4100_4102del c.4036_4038del (p.Glu1346del) c.3910_3912del (p.Glu1304del) c.4033_4035del (p.Glu1345del) c.3958_3960del (p.Glu1320del) c.785-463_785-461del (n.785-463_785-461del) c.647-463_647-461del (n.647-463_647-461del) c.3148_3150del (p.Glu1050del) c.3913_3915del (p.Glu1305del) c.3895_3897del (p.Glu1299del) c.665-463_665-461del (n.665-463_665-461del) c.707-463_707-461del (n.707-463_707-461del) c.357_359del c.671-463_671-461del (n.671-463_671-461del) c.*3819_*3821del (n.*3819_*3821del) c.330_332del c.788-463_788-461del (n.788-463_788-461del) c.410-463_410-461del (n.410-463_410-461del) c.413-463_413-461del (n.413-463_413-461del) c.5-27544_5-27542del (n.5-27544_5-27542del) c.-43-16974_-43-16972del (n.-43-16974_-43-16972del) c.-99+33776_-99+33778del (n.-99+33776_-99+33778del) n.4172_4174del n.4213_4215del | ClinVar dbSNP |
| 17 | g.43091494T>A | CA10593883 | BRCA1 | n.4101A>T c.4037A>T (p.Glu1346Val) c.3911A>T (p.Glu1304Val) c.4034A>T (p.Glu1345Val) c.3959A>T (p.Glu1320Val) c.785-462A>T (n.785-462A>T) c.647-462A>T (n.647-462A>T) c.3149A>T (p.Glu1050Val) c.3914A>T (p.Glu1305Val) c.3896A>T (p.Glu1299Val) c.665-462A>T (n.665-462A>T) c.707-462A>T (n.707-462A>T) c.358A>T c.671-462A>T (n.671-462A>T) c.*3820A>T (n.*3820A>T) c.331A>T c.788-462A>T (n.788-462A>T) c.410-462A>T (n.410-462A>T) c.413-462A>T (n.413-462A>T) c.5-27543A>T (n.5-27543A>T) c.-43-16973A>T (n.-43-16973A>T) c.-99+33777A>T (n.-99+33777A>T) n.4173A>T n.4214A>T | |
| 17 | g.43091494T>C | CA10593884 | BRCA1 | n.4101A>G c.4037A>G (p.Glu1346Gly) c.3911A>G (p.Glu1304Gly) c.4034A>G (p.Glu1345Gly) c.3959A>G (p.Glu1320Gly) c.785-462A>G (n.785-462A>G) c.647-462A>G (n.647-462A>G) c.3149A>G (p.Glu1050Gly) c.3914A>G (p.Glu1305Gly) c.3896A>G (p.Glu1299Gly) c.665-462A>G (n.665-462A>G) c.707-462A>G (n.707-462A>G) c.358A>G c.671-462A>G (n.671-462A>G) c.*3820A>G (n.*3820A>G) c.331A>G c.788-462A>G (n.788-462A>G) c.410-462A>G (n.410-462A>G) c.413-462A>G (n.413-462A>G) c.5-27543A>G (n.5-27543A>G) c.-43-16973A>G (n.-43-16973A>G) c.-99+33777A>G (n.-99+33777A>G) n.4173A>G n.4214A>G | ClinVar dbSNP gnomAD v4 |
| 17 | g.43091494T>G | CA10593885 | BRCA1 | n.4101A>C c.4037A>C (p.Glu1346Ala) c.3911A>C (p.Glu1304Ala) c.4034A>C (p.Glu1345Ala) c.3959A>C (p.Glu1320Ala) c.785-462A>C (n.785-462A>C) c.647-462A>C (n.647-462A>C) c.3149A>C (p.Glu1050Ala) c.3914A>C (p.Glu1305Ala) c.3896A>C (p.Glu1299Ala) c.665-462A>C (n.665-462A>C) c.707-462A>C (n.707-462A>C) c.358A>C c.671-462A>C (n.671-462A>C) c.*3820A>C (n.*3820A>C) c.331A>C c.788-462A>C (n.788-462A>C) c.410-462A>C (n.410-462A>C) c.413-462A>C (n.413-462A>C) c.5-27543A>C (n.5-27543A>C) c.-43-16973A>C (n.-43-16973A>C) c.-99+33777A>C (n.-99+33777A>C) n.4173A>C n.4214A>C | |
| 17 | g.43091494T= | CA2260781977 | BRCA1 | n.4101A= c.4037A= (p.Glu1346=) c.3911A= (p.Glu1304=) c.4034A= (p.Glu1345=) c.3959A= (p.Glu1320=) c.785-462A= (n.785-462A=) c.647-462A= (n.647-462A=) c.3149A= (p.Glu1050=) c.3914A= (p.Glu1305=) c.3896A= (p.Glu1299=) c.665-462A= (n.665-462A=) c.707-462A= (n.707-462A=) c.358A= c.671-462A= (n.671-462A=) c.*3820A= (n.*3820A=) c.331A= c.788-462A= (n.788-462A=) c.410-462A= (n.410-462A=) c.413-462A= (n.413-462A=) c.5-27543A= (n.5-27543A=) c.-43-16973A= (n.-43-16973A=) c.-99+33777A= (n.-99+33777A=) n.4173A= n.4214A= | |
| 17 | g.43091494_43091495delinsTC | CA2260781978 | BRCA1 | n.4100_4101delinsGA c.4036_4037delinsGA (p.Glu1346=) c.3910_3911delinsGA (p.Glu1304=) c.4033_4034delinsGA (p.Glu1345=) c.3958_3959delinsGA (p.Glu1320=) c.785-463_785-462delinsGA (n.785-463_785-462delinsGA) c.647-463_647-462delinsGA (n.647-463_647-462delinsGA) c.3148_3149delinsGA (p.Glu1050=) c.3913_3914delinsGA (p.Glu1305=) c.3895_3896delinsGA (p.Glu1299=) c.665-463_665-462delinsGA (n.665-463_665-462delinsGA) c.707-463_707-462delinsGA (n.707-463_707-462delinsGA) c.357_358delinsGA c.671-463_671-462delinsGA (n.671-463_671-462delinsGA) c.*3819_*3820delinsGA (n.*3819_*3820delinsGA) c.330_331delinsGA c.788-463_788-462delinsGA (n.788-463_788-462delinsGA) c.410-463_410-462delinsGA (n.410-463_410-462delinsGA) c.413-463_413-462delinsGA (n.413-463_413-462delinsGA) c.5-27544_5-27543delinsGA (n.5-27544_5-27543delinsGA) c.-43-16974_-43-16973delinsGA (n.-43-16974_-43-16973delinsGA) c.-99+33776_-99+33777delinsGA (n.-99+33776_-99+33777delinsGA) n.4172_4173delinsGA n.4213_4214delinsGA | |
| 17 | g.43091495_43091496del | CA059033 | BRCA1 | n.4100_4101del c.4036_4037del (p.Glu1346LysfsTer9) c.3910_3911del (p.Glu1304LysfsTer9) c.4033_4034del (p.Glu1345LysfsTer9) c.3958_3959del (p.Glu1320LysfsTer9) c.785-463_785-462del (n.785-463_785-462del) c.647-463_647-462del (n.647-463_647-462del) c.3148_3149del (p.Glu1050LysfsTer9) c.3913_3914del (p.Glu1305LysfsTer9) c.3895_3896del (p.Glu1299LysfsTer9) c.665-463_665-462del (n.665-463_665-462del) c.707-463_707-462del (n.707-463_707-462del) c.357_358del c.671-463_671-462del (n.671-463_671-462del) c.*3819_*3820del (n.*3819_*3820del) c.330_331del c.788-463_788-462del (n.788-463_788-462del) c.410-463_410-462del (n.410-463_410-462del) c.413-463_413-462del (n.413-463_413-462del) c.5-27544_5-27543del (n.5-27544_5-27543del) c.-43-16974_-43-16973del (n.-43-16974_-43-16973del) c.-99+33776_-99+33777del (n.-99+33776_-99+33777del) n.4172_4173del n.4213_4214del | |
| 17 | g.43091495del | CA10589701 | BRCA1 | n.4100del c.4036del (p.Glu1346LysfsTer20) c.3910del (p.Glu1304LysfsTer20) c.4033del (p.Glu1345LysfsTer20) c.3958del (p.Glu1320LysfsTer20) c.785-463del (n.785-463del) c.647-463del (n.647-463del) c.3148del (p.Glu1050LysfsTer20) c.3913del (p.Glu1305LysfsTer20) c.3895del (p.Glu1299LysfsTer20) c.665-463del (n.665-463del) c.707-463del (n.707-463del) c.357del c.671-463del (n.671-463del) c.*3819del (n.*3819del) c.330del c.788-463del (n.788-463del) c.410-463del (n.410-463del) c.413-463del (n.413-463del) c.5-27544del (n.5-27544del) c.-43-16974del (n.-43-16974del) c.-99+33776del (n.-99+33776del) n.4172del n.4213del | ClinVar dbSNP |
| 17 | g.43091495C>A | CA10593886 | BRCA1 | n.4100G>T c.4036G>T (p.Glu1346Ter) c.3910G>T (p.Glu1304Ter) c.4033G>T (p.Glu1345Ter) c.3958G>T (p.Glu1320Ter) c.785-463G>T (n.785-463G>T) c.647-463G>T (n.647-463G>T) c.3148G>T (p.Glu1050Ter) c.3913G>T (p.Glu1305Ter) c.3895G>T (p.Glu1299Ter) c.665-463G>T (n.665-463G>T) c.707-463G>T (n.707-463G>T) c.357G>T c.671-463G>T (n.671-463G>T) c.*3819G>T (n.*3819G>T) c.330G>T c.788-463G>T (n.788-463G>T) c.410-463G>T (n.410-463G>T) c.413-463G>T (n.413-463G>T) c.5-27544G>T (n.5-27544G>T) c.-43-16974G>T (n.-43-16974G>T) c.-99+33776G>T (n.-99+33776G>T) n.4172G>T n.4213G>T | ClinVar |
| 17 | g.43091495C= | CA2260781979 | BRCA1 | n.4100G= c.4036G= (p.Glu1346=) c.3910G= (p.Glu1304=) c.4033G= (p.Glu1345=) c.3958G= (p.Glu1320=) c.785-463G= (n.785-463G=) c.647-463G= (n.647-463G=) c.3148G= (p.Glu1050=) c.3913G= (p.Glu1305=) c.3895G= (p.Glu1299=) c.665-463G= (n.665-463G=) c.707-463G= (n.707-463G=) c.357G= c.671-463G= (n.671-463G=) c.*3819G= (n.*3819G=) c.330G= c.788-463G= (n.788-463G=) c.410-463G= (n.410-463G=) c.413-463G= (n.413-463G=) c.5-27544G= (n.5-27544G=) c.-43-16974G= (n.-43-16974G=) c.-99+33776G= (n.-99+33776G=) n.4172G= n.4213G= | |
| 17 | g.43091495C>G | CA10593887 | BRCA1 | n.4100G>C c.4036G>C (p.Glu1346Gln) c.3910G>C (p.Glu1304Gln) c.4033G>C (p.Glu1345Gln) c.3958G>C (p.Glu1320Gln) c.785-463G>C (n.785-463G>C) c.647-463G>C (n.647-463G>C) c.3148G>C (p.Glu1050Gln) c.3913G>C (p.Glu1305Gln) c.3895G>C (p.Glu1299Gln) c.665-463G>C (n.665-463G>C) c.707-463G>C (n.707-463G>C) c.357G>C c.671-463G>C (n.671-463G>C) c.*3819G>C (n.*3819G>C) c.330G>C c.788-463G>C (n.788-463G>C) c.410-463G>C (n.410-463G>C) c.413-463G>C (n.413-463G>C) c.5-27544G>C (n.5-27544G>C) c.-43-16974G>C (n.-43-16974G>C) c.-99+33776G>C (n.-99+33776G>C) n.4172G>C n.4213G>C | dbSNP |
| 17 | g.43091495C>T | CA002575 | BRCA1 | n.4100G>A c.4036G>A (p.Glu1346Lys) c.3910G>A (p.Glu1304Lys) c.4033G>A (p.Glu1345Lys) c.3958G>A (p.Glu1320Lys) c.785-463G>A (n.785-463G>A) c.647-463G>A (n.647-463G>A) c.3148G>A (p.Glu1050Lys) c.3913G>A (p.Glu1305Lys) c.3895G>A (p.Glu1299Lys) c.665-463G>A (n.665-463G>A) c.707-463G>A (n.707-463G>A) c.357G>A c.671-463G>A (n.671-463G>A) c.*3819G>A (n.*3819G>A) c.330G>A c.788-463G>A (n.788-463G>A) c.410-463G>A (n.410-463G>A) c.413-463G>A (n.413-463G>A) c.5-27544G>A (n.5-27544G>A) c.-43-16974G>A (n.-43-16974G>A) c.-99+33776G>A (n.-99+33776G>A) n.4172G>A n.4213G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.43091495_43091496delinsCT | CA2260781980 | BRCA1 | n.4099_4100delinsAG c.4035_4036delinsAG (p.Glu1345=) c.3909_3910delinsAG (p.Glu1303=) c.4032_4033delinsAG (p.Glu1344=) c.3957_3958delinsAG (p.Glu1319=) c.785-464_785-463delinsAG (n.785-464_785-463delinsAG) c.647-464_647-463delinsAG (n.647-464_647-463delinsAG) c.3147_3148delinsAG (p.Glu1049=) c.3912_3913delinsAG (p.Glu1304=) c.3894_3895delinsAG (p.Glu1298=) c.665-464_665-463delinsAG (n.665-464_665-463delinsAG) c.707-464_707-463delinsAG (n.707-464_707-463delinsAG) c.356_357delinsAG c.671-464_671-463delinsAG (n.671-464_671-463delinsAG) c.*3818_*3819delinsAG (n.*3818_*3819delinsAG) c.329_330delinsAG c.788-464_788-463delinsAG (n.788-464_788-463delinsAG) c.410-464_410-463delinsAG (n.410-464_410-463delinsAG) c.413-464_413-463delinsAG (n.413-464_413-463delinsAG) c.5-27545_5-27544delinsAG (n.5-27545_5-27544delinsAG) c.-43-16975_-43-16974delinsAG (n.-43-16975_-43-16974delinsAG) c.-99+33775_-99+33776delinsAG (n.-99+33775_-99+33776delinsAG) n.4171_4172delinsAG n.4212_4213delinsAG | |
| 17 | g.43091496T>A | CA10593888 | BRCA1 | n.4099A>T c.4035A>T (p.Glu1345Asp) c.3909A>T (p.Glu1303Asp) c.4032A>T (p.Glu1344Asp) c.3957A>T (p.Glu1319Asp) c.785-464A>T (n.785-464A>T) c.647-464A>T (n.647-464A>T) c.3147A>T (p.Glu1049Asp) c.3912A>T (p.Glu1304Asp) c.3894A>T (p.Glu1298Asp) c.665-464A>T (n.665-464A>T) c.707-464A>T (n.707-464A>T) c.356A>T c.671-464A>T (n.671-464A>T) c.*3818A>T (n.*3818A>T) c.329A>T c.788-464A>T (n.788-464A>T) c.410-464A>T (n.410-464A>T) c.413-464A>T (n.413-464A>T) c.5-27545A>T (n.5-27545A>T) c.-43-16975A>T (n.-43-16975A>T) c.-99+33775A>T (n.-99+33775A>T) n.4171A>T n.4212A>T | ClinVar |
| 17 | g.43091496T>C | CA500231996 | BRCA1 | n.4099A>G c.4035A>G (p.Glu1345=) c.3909A>G (p.Glu1303=) c.4032A>G (p.Glu1344=) c.3957A>G (p.Glu1319=) c.785-464A>G (n.785-464A>G) c.647-464A>G (n.647-464A>G) c.3147A>G (p.Glu1049=) c.3912A>G (p.Glu1304=) c.3894A>G (p.Glu1298=) c.665-464A>G (n.665-464A>G) c.707-464A>G (n.707-464A>G) c.356A>G c.671-464A>G (n.671-464A>G) c.*3818A>G (n.*3818A>G) c.329A>G c.788-464A>G (n.788-464A>G) c.410-464A>G (n.410-464A>G) c.413-464A>G (n.413-464A>G) c.5-27545A>G (n.5-27545A>G) c.-43-16975A>G (n.-43-16975A>G) c.-99+33775A>G (n.-99+33775A>G) n.4171A>G n.4212A>G | |
| 17 | g.43091496T>G | CA10593889 | BRCA1 | n.4099A>C c.4035A>C (p.Glu1345Asp) c.3909A>C (p.Glu1303Asp) c.4032A>C (p.Glu1344Asp) c.3957A>C (p.Glu1319Asp) c.785-464A>C (n.785-464A>C) c.647-464A>C (n.647-464A>C) c.3147A>C (p.Glu1049Asp) c.3912A>C (p.Glu1304Asp) c.3894A>C (p.Glu1298Asp) c.665-464A>C (n.665-464A>C) c.707-464A>C (n.707-464A>C) c.356A>C c.671-464A>C (n.671-464A>C) c.*3818A>C (n.*3818A>C) c.329A>C c.788-464A>C (n.788-464A>C) c.410-464A>C (n.410-464A>C) c.413-464A>C (n.413-464A>C) c.5-27545A>C (n.5-27545A>C) c.-43-16975A>C (n.-43-16975A>C) c.-99+33775A>C (n.-99+33775A>C) n.4171A>C n.4212A>C | |
| 17 | g.43091497del | CA002573 | BRCA1 | n.4099del c.4035del (p.Glu1346LysfsTer20) c.3909del (p.Glu1304LysfsTer20) c.4032del (p.Glu1345LysfsTer20) c.3957del (p.Glu1320LysfsTer20) c.785-464del (n.785-464del) c.647-464del (n.647-464del) c.3147del (p.Glu1050LysfsTer20) c.3912del (p.Glu1305LysfsTer20) c.3894del (p.Glu1299LysfsTer20) c.665-464del (n.665-464del) c.707-464del (n.707-464del) c.356del c.671-464del (n.671-464del) c.*3818del (n.*3818del) c.329del c.788-464del (n.788-464del) c.410-464del (n.410-464del) c.413-464del (n.413-464del) c.5-27545del (n.5-27545del) c.-43-16975del (n.-43-16975del) c.-99+33775del (n.-99+33775del) n.4171del n.4212del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.43091496_43091499delinsTTCA | CA2260781981 | BRCA1 | n.4096_4099delinsTGAA c.4032_4035delinsTGAA (p.Asp1344=) c.3906_3909delinsTGAA (p.Asp1302=) c.4029_4032delinsTGAA (p.Asp1343=) c.3954_3957delinsTGAA (p.Asp1318=) c.785-467_785-464delinsTGAA (n.785-467_785-464delinsTGAA) c.647-467_647-464delinsTGAA (n.647-467_647-464delinsTGAA) c.3144_3147delinsTGAA (p.Asp1048=) c.3909_3912delinsTGAA (p.Asp1303=) c.3891_3894delinsTGAA (p.Asp1297=) c.665-467_665-464delinsTGAA (n.665-467_665-464delinsTGAA) c.707-467_707-464delinsTGAA (n.707-467_707-464delinsTGAA) c.353_356delinsTGAA c.671-467_671-464delinsTGAA (n.671-467_671-464delinsTGAA) c.*3815_*3818delinsTGAA (n.*3815_*3818delinsTGAA) c.326_329delinsTGAA c.788-467_788-464delinsTGAA (n.788-467_788-464delinsTGAA) c.410-467_410-464delinsTGAA (n.410-467_410-464delinsTGAA) c.413-467_413-464delinsTGAA (n.413-467_413-464delinsTGAA) c.5-27548_5-27545delinsTGAA (n.5-27548_5-27545delinsTGAA) c.-43-16978_-43-16975delinsTGAA (n.-43-16978_-43-16975delinsTGAA) c.-99+33772_-99+33775delinsTGAA (n.-99+33772_-99+33775delinsTGAA) n.4168_4171delinsTGAA n.4209_4212delinsTGAA | |
| 17 | g.43091497T>A | CA059040 | BRCA1 | n.4098A>T c.4034A>T (p.Glu1345Val) c.3908A>T (p.Glu1303Val) c.4031A>T (p.Glu1344Val) c.3956A>T (p.Glu1319Val) c.785-465A>T (n.785-465A>T) c.647-465A>T (n.647-465A>T) c.3146A>T (p.Glu1049Val) c.3911A>T (p.Glu1304Val) c.3893A>T (p.Glu1298Val) c.665-465A>T (n.665-465A>T) c.707-465A>T (n.707-465A>T) c.355A>T c.671-465A>T (n.671-465A>T) c.*3817A>T (n.*3817A>T) c.328A>T c.788-465A>T (n.788-465A>T) c.410-465A>T (n.410-465A>T) c.413-465A>T (n.413-465A>T) c.5-27546A>T (n.5-27546A>T) c.-43-16976A>T (n.-43-16976A>T) c.-99+33774A>T (n.-99+33774A>T) n.4170A>T n.4211A>T | ClinVar dbSNP ExAC gnomAD v2 |
| 17 | g.43091497T>C | CA10593890 | BRCA1 | n.4098A>G c.4034A>G (p.Glu1345Gly) c.3908A>G (p.Glu1303Gly) c.4031A>G (p.Glu1344Gly) c.3956A>G (p.Glu1319Gly) c.785-465A>G (n.785-465A>G) c.647-465A>G (n.647-465A>G) c.3146A>G (p.Glu1049Gly) c.3911A>G (p.Glu1304Gly) c.3893A>G (p.Glu1298Gly) c.665-465A>G (n.665-465A>G) c.707-465A>G (n.707-465A>G) c.355A>G c.671-465A>G (n.671-465A>G) c.*3817A>G (n.*3817A>G) c.328A>G c.788-465A>G (n.788-465A>G) c.410-465A>G (n.410-465A>G) c.413-465A>G (n.413-465A>G) c.5-27546A>G (n.5-27546A>G) c.-43-16976A>G (n.-43-16976A>G) c.-99+33774A>G (n.-99+33774A>G) n.4170A>G n.4211A>G | gnomAD v4 |
| 17 | g.43091497T>G | CA10593891 | BRCA1 | n.4098A>C c.4034A>C (p.Glu1345Ala) c.3908A>C (p.Glu1303Ala) c.4031A>C (p.Glu1344Ala) c.3956A>C (p.Glu1319Ala) c.785-465A>C (n.785-465A>C) c.647-465A>C (n.647-465A>C) c.3146A>C (p.Glu1049Ala) c.3911A>C (p.Glu1304Ala) c.3893A>C (p.Glu1298Ala) c.665-465A>C (n.665-465A>C) c.707-465A>C (n.707-465A>C) c.355A>C c.671-465A>C (n.671-465A>C) c.*3817A>C (n.*3817A>C) c.328A>C c.788-465A>C (n.788-465A>C) c.410-465A>C (n.410-465A>C) c.413-465A>C (n.413-465A>C) c.5-27546A>C (n.5-27546A>C) c.-43-16976A>C (n.-43-16976A>C) c.-99+33774A>C (n.-99+33774A>C) n.4170A>C n.4211A>C | |
| 17 | g.43091497T= | CA2260781982 | BRCA1 | n.4098A= c.4034A= (p.Glu1345=) c.3908A= (p.Glu1303=) c.4031A= (p.Glu1344=) c.3956A= (p.Glu1319=) c.785-465A= (n.785-465A=) c.647-465A= (n.647-465A=) c.3146A= (p.Glu1049=) c.3911A= (p.Glu1304=) c.3893A= (p.Glu1298=) c.665-465A= (n.665-465A=) c.707-465A= (n.707-465A=) c.355A= c.671-465A= (n.671-465A=) c.*3817A= (n.*3817A=) c.328A= c.788-465A= (n.788-465A=) c.410-465A= (n.410-465A=) c.413-465A= (n.413-465A=) c.5-27546A= (n.5-27546A=) c.-43-16976A= (n.-43-16976A=) c.-99+33774A= (n.-99+33774A=) n.4170A= n.4211A= | |
| 17 | g.43091502_43091504del | CA002572 | BRCA1 | n.4096_4098del c.4032_4034del (p.Asp1344del) c.3906_3908del (p.Asp1302del) c.4029_4031del (p.Asp1343del) c.3954_3956del (p.Asp1318del) c.785-467_785-465del (n.785-467_785-465del) c.647-467_647-465del (n.647-467_647-465del) c.3144_3146del (p.Asp1048del) c.3909_3911del (p.Asp1303del) c.3891_3893del (p.Asp1297del) c.665-467_665-465del (n.665-467_665-465del) c.707-467_707-465del (n.707-467_707-465del) c.353_355del c.671-467_671-465del (n.671-467_671-465del) c.*3815_*3817del (n.*3815_*3817del) c.326_328del c.788-467_788-465del (n.788-467_788-465del) c.410-467_410-465del (n.410-467_410-465del) c.413-467_413-465del (n.413-467_413-465del) c.5-27548_5-27546del (n.5-27548_5-27546del) c.-43-16978_-43-16976del (n.-43-16978_-43-16976del) c.-99+33772_-99+33774del (n.-99+33772_-99+33774del) n.4168_4170del n.4209_4211del | ClinVar dbSNP |
| 17 | g.43091498C>A | CA10589702 | BRCA1 | n.4097G>T c.4033G>T (p.Glu1345Ter) c.3907G>T (p.Glu1303Ter) c.4030G>T (p.Glu1344Ter) c.3955G>T (p.Glu1319Ter) c.785-466G>T (n.785-466G>T) c.647-466G>T (n.647-466G>T) c.3145G>T (p.Glu1049Ter) c.3910G>T (p.Glu1304Ter) c.3892G>T (p.Glu1298Ter) c.665-466G>T (n.665-466G>T) c.707-466G>T (n.707-466G>T) c.354G>T c.671-466G>T (n.671-466G>T) c.*3816G>T (n.*3816G>T) c.327G>T c.788-466G>T (n.788-466G>T) c.410-466G>T (n.410-466G>T) c.413-466G>T (n.413-466G>T) c.5-27547G>T (n.5-27547G>T) c.-43-16977G>T (n.-43-16977G>T) c.-99+33773G>T (n.-99+33773G>T) n.4169G>T n.4210G>T | ClinVar dbSNP |
| 17 | g.43091498C= | CA2260781983 | BRCA1 | n.4097G= c.4033G= (p.Glu1345=) c.3907G= (p.Glu1303=) c.4030G= (p.Glu1344=) c.3955G= (p.Glu1319=) c.785-466G= (n.785-466G=) c.647-466G= (n.647-466G=) c.3145G= (p.Glu1049=) c.3910G= (p.Glu1304=) c.3892G= (p.Glu1298=) c.665-466G= (n.665-466G=) c.707-466G= (n.707-466G=) c.354G= c.671-466G= (n.671-466G=) c.*3816G= (n.*3816G=) c.327G= c.788-466G= (n.788-466G=) c.410-466G= (n.410-466G=) c.413-466G= (n.413-466G=) c.5-27547G= (n.5-27547G=) c.-43-16977G= (n.-43-16977G=) c.-99+33773G= (n.-99+33773G=) n.4169G= n.4210G= | |
| 17 | g.43091498C>G | CA10593892 | BRCA1 | n.4097G>C c.4033G>C (p.Glu1345Gln) c.3907G>C (p.Glu1303Gln) c.4030G>C (p.Glu1344Gln) c.3955G>C (p.Glu1319Gln) c.785-466G>C (n.785-466G>C) c.647-466G>C (n.647-466G>C) c.3145G>C (p.Glu1049Gln) c.3910G>C (p.Glu1304Gln) c.3892G>C (p.Glu1298Gln) c.665-466G>C (n.665-466G>C) c.707-466G>C (n.707-466G>C) c.354G>C c.671-466G>C (n.671-466G>C) c.*3816G>C (n.*3816G>C) c.327G>C c.788-466G>C (n.788-466G>C) c.410-466G>C (n.410-466G>C) c.413-466G>C (n.413-466G>C) c.5-27547G>C (n.5-27547G>C) c.-43-16977G>C (n.-43-16977G>C) c.-99+33773G>C (n.-99+33773G>C) n.4169G>C n.4210G>C | dbSNP |
| 17 | g.43091498C>T | CA10593893 | BRCA1 | n.4097G>A c.4033G>A (p.Glu1345Lys) c.3907G>A (p.Glu1303Lys) c.4030G>A (p.Glu1344Lys) c.3955G>A (p.Glu1319Lys) c.785-466G>A (n.785-466G>A) c.647-466G>A (n.647-466G>A) c.3145G>A (p.Glu1049Lys) c.3910G>A (p.Glu1304Lys) c.3892G>A (p.Glu1298Lys) c.665-466G>A (n.665-466G>A) c.707-466G>A (n.707-466G>A) c.354G>A c.671-466G>A (n.671-466G>A) c.*3816G>A (n.*3816G>A) c.327G>A c.788-466G>A (n.788-466G>A) c.410-466G>A (n.410-466G>A) c.413-466G>A (n.413-466G>A) c.5-27547G>A (n.5-27547G>A) c.-43-16977G>A (n.-43-16977G>A) c.-99+33773G>A (n.-99+33773G>A) n.4169G>A n.4210G>A | dbSNP |
| 17 | g.43091499A= | CA2260781984 | BRCA1 | n.4096T= c.4032T= (p.Asp1344=) c.3906T= (p.Asp1302=) c.4029T= (p.Asp1343=) c.3954T= (p.Asp1318=) c.785-467T= (n.785-467T=) c.647-467T= (n.647-467T=) c.3144T= (p.Asp1048=) c.3909T= (p.Asp1303=) c.3891T= (p.Asp1297=) c.665-467T= (n.665-467T=) c.707-467T= (n.707-467T=) c.353T= c.671-467T= (n.671-467T=) c.*3815T= (n.*3815T=) c.326T= c.788-467T= (n.788-467T=) c.410-467T= (n.410-467T=) c.413-467T= (n.413-467T=) c.5-27548T= (n.5-27548T=) c.-43-16978T= (n.-43-16978T=) c.-99+33772T= (n.-99+33772T=) n.4168T= n.4209T= | |
| 17 | g.43091499A>C | CA10593894 | BRCA1 | n.4096T>G c.4032T>G (p.Asp1344Glu) c.3906T>G (p.Asp1302Glu) c.4029T>G (p.Asp1343Glu) c.3954T>G (p.Asp1318Glu) c.785-467T>G (n.785-467T>G) c.647-467T>G (n.647-467T>G) c.3144T>G (p.Asp1048Glu) c.3909T>G (p.Asp1303Glu) c.3891T>G (p.Asp1297Glu) c.665-467T>G (n.665-467T>G) c.707-467T>G (n.707-467T>G) c.353T>G c.671-467T>G (n.671-467T>G) c.*3815T>G (n.*3815T>G) c.326T>G c.788-467T>G (n.788-467T>G) c.410-467T>G (n.410-467T>G) c.413-467T>G (n.413-467T>G) c.5-27548T>G (n.5-27548T>G) c.-43-16978T>G (n.-43-16978T>G) c.-99+33772T>G (n.-99+33772T>G) n.4168T>G n.4209T>G | |
| 17 | g.43091499A>G | CA500231997 | BRCA1 | n.4096T>C c.4032T>C (p.Asp1344=) c.3906T>C (p.Asp1302=) c.4029T>C (p.Asp1343=) c.3954T>C (p.Asp1318=) c.785-467T>C (n.785-467T>C) c.647-467T>C (n.647-467T>C) c.3144T>C (p.Asp1048=) c.3909T>C (p.Asp1303=) c.3891T>C (p.Asp1297=) c.665-467T>C (n.665-467T>C) c.707-467T>C (n.707-467T>C) c.353T>C c.671-467T>C (n.671-467T>C) c.*3815T>C (n.*3815T>C) c.326T>C c.788-467T>C (n.788-467T>C) c.410-467T>C (n.410-467T>C) c.413-467T>C (n.413-467T>C) c.5-27548T>C (n.5-27548T>C) c.-43-16978T>C (n.-43-16978T>C) c.-99+33772T>C (n.-99+33772T>C) n.4168T>C n.4209T>C | ClinVar dbSNP |
| 17 | g.43091499A>T | CA059043 | BRCA1 | n.4096T>A c.4032T>A (p.Asp1344Glu) c.3906T>A (p.Asp1302Glu) c.4029T>A (p.Asp1343Glu) c.3954T>A (p.Asp1318Glu) c.785-467T>A (n.785-467T>A) c.647-467T>A (n.647-467T>A) c.3144T>A (p.Asp1048Glu) c.3909T>A (p.Asp1303Glu) c.3891T>A (p.Asp1297Glu) c.665-467T>A (n.665-467T>A) c.707-467T>A (n.707-467T>A) c.353T>A c.671-467T>A (n.671-467T>A) c.*3815T>A (n.*3815T>A) c.326T>A c.788-467T>A (n.788-467T>A) c.410-467T>A (n.410-467T>A) c.413-467T>A (n.413-467T>A) c.5-27548T>A (n.5-27548T>A) c.-43-16978T>A (n.-43-16978T>A) c.-99+33772T>A (n.-99+33772T>A) n.4168T>A n.4209T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |