| 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.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.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.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 |
| 17 | g.43091500T>A | CA10593895 | BRCA1 | n.4095A>T c.4031A>T (p.Asp1344Val) c.3905A>T (p.Asp1302Val) c.4028A>T (p.Asp1343Val) c.3953A>T (p.Asp1318Val) c.785-468A>T (n.785-468A>T) c.647-468A>T (n.647-468A>T) c.3143A>T (p.Asp1048Val) c.3908A>T (p.Asp1303Val) c.3890A>T (p.Asp1297Val) c.665-468A>T (n.665-468A>T) c.707-468A>T (n.707-468A>T) c.352A>T c.671-468A>T (n.671-468A>T) c.*3814A>T (n.*3814A>T) c.325A>T c.788-468A>T (n.788-468A>T) c.410-468A>T (n.410-468A>T) c.413-468A>T (n.413-468A>T) c.5-27549A>T (n.5-27549A>T) c.-43-16979A>T (n.-43-16979A>T) c.-99+33771A>T (n.-99+33771A>T) n.4167A>T n.4208A>T | dbSNP |
| 17 | g.43091500T>C | CA002571 | BRCA1 | n.4095A>G c.4031A>G (p.Asp1344Gly) c.3905A>G (p.Asp1302Gly) c.4028A>G (p.Asp1343Gly) c.3953A>G (p.Asp1318Gly) c.785-468A>G (n.785-468A>G) c.647-468A>G (n.647-468A>G) c.3143A>G (p.Asp1048Gly) c.3908A>G (p.Asp1303Gly) c.3890A>G (p.Asp1297Gly) c.665-468A>G (n.665-468A>G) c.707-468A>G (n.707-468A>G) c.352A>G c.671-468A>G (n.671-468A>G) c.*3814A>G (n.*3814A>G) c.325A>G c.788-468A>G (n.788-468A>G) c.410-468A>G (n.410-468A>G) c.413-468A>G (n.413-468A>G) c.5-27549A>G (n.5-27549A>G) c.-43-16979A>G (n.-43-16979A>G) c.-99+33771A>G (n.-99+33771A>G) n.4167A>G n.4208A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.43091500T>G | CA10593896 | BRCA1 | n.4095A>C c.4031A>C (p.Asp1344Ala) c.3905A>C (p.Asp1302Ala) c.4028A>C (p.Asp1343Ala) c.3953A>C (p.Asp1318Ala) c.785-468A>C (n.785-468A>C) c.647-468A>C (n.647-468A>C) c.3143A>C (p.Asp1048Ala) c.3908A>C (p.Asp1303Ala) c.3890A>C (p.Asp1297Ala) c.665-468A>C (n.665-468A>C) c.707-468A>C (n.707-468A>C) c.352A>C c.671-468A>C (n.671-468A>C) c.*3814A>C (n.*3814A>C) c.325A>C c.788-468A>C (n.788-468A>C) c.410-468A>C (n.410-468A>C) c.413-468A>C (n.413-468A>C) c.5-27549A>C (n.5-27549A>C) c.-43-16979A>C (n.-43-16979A>C) c.-99+33771A>C (n.-99+33771A>C) n.4167A>C n.4208A>C | |
| 17 | g.43091500T= | CA2260781985 | BRCA1 | n.4095A= c.4031A= (p.Asp1344=) c.3905A= (p.Asp1302=) c.4028A= (p.Asp1343=) c.3953A= (p.Asp1318=) c.785-468A= (n.785-468A=) c.647-468A= (n.647-468A=) c.3143A= (p.Asp1048=) c.3908A= (p.Asp1303=) c.3890A= (p.Asp1297=) c.665-468A= (n.665-468A=) c.707-468A= (n.707-468A=) c.352A= c.671-468A= (n.671-468A=) c.*3814A= (n.*3814A=) c.325A= c.788-468A= (n.788-468A=) c.410-468A= (n.410-468A=) c.413-468A= (n.413-468A=) c.5-27549A= (n.5-27549A=) c.-43-16979A= (n.-43-16979A=) c.-99+33771A= (n.-99+33771A=) n.4167A= n.4208A= | |
| 17 | g.43091501C>A | CA10593897 | BRCA1 | n.4094G>T c.4030G>T (p.Asp1344Tyr) c.3904G>T (p.Asp1302Tyr) c.4027G>T (p.Asp1343Tyr) c.3952G>T (p.Asp1318Tyr) c.785-469G>T (n.785-469G>T) c.647-469G>T (n.647-469G>T) c.3142G>T (p.Asp1048Tyr) c.3907G>T (p.Asp1303Tyr) c.3889G>T (p.Asp1297Tyr) c.665-469G>T (n.665-469G>T) c.707-469G>T (n.707-469G>T) c.351G>T c.671-469G>T (n.671-469G>T) c.*3813G>T (n.*3813G>T) c.324G>T c.788-469G>T (n.788-469G>T) c.410-469G>T (n.410-469G>T) c.413-469G>T (n.413-469G>T) c.5-27550G>T (n.5-27550G>T) c.-43-16980G>T (n.-43-16980G>T) c.-99+33770G>T (n.-99+33770G>T) n.4166G>T n.4207G>T | dbSNP |
| 17 | g.43091501C>G | CA10593898 | BRCA1 | n.4094G>C c.4030G>C (p.Asp1344His) c.3904G>C (p.Asp1302His) c.4027G>C (p.Asp1343His) c.3952G>C (p.Asp1318His) c.785-469G>C (n.785-469G>C) c.647-469G>C (n.647-469G>C) c.3142G>C (p.Asp1048His) c.3907G>C (p.Asp1303His) c.3889G>C (p.Asp1297His) c.665-469G>C (n.665-469G>C) c.707-469G>C (n.707-469G>C) c.351G>C c.671-469G>C (n.671-469G>C) c.*3813G>C (n.*3813G>C) c.324G>C c.788-469G>C (n.788-469G>C) c.410-469G>C (n.410-469G>C) c.413-469G>C (n.413-469G>C) c.5-27550G>C (n.5-27550G>C) c.-43-16980G>C (n.-43-16980G>C) c.-99+33770G>C (n.-99+33770G>C) n.4166G>C n.4207G>C | dbSNP COSMIC COSMIC |
| 17 | g.43091501C>T | CA10593899 | BRCA1 | n.4094G>A c.4030G>A (p.Asp1344Asn) c.3904G>A (p.Asp1302Asn) c.4027G>A (p.Asp1343Asn) c.3952G>A (p.Asp1318Asn) c.785-469G>A (n.785-469G>A) c.647-469G>A (n.647-469G>A) c.3142G>A (p.Asp1048Asn) c.3907G>A (p.Asp1303Asn) c.3889G>A (p.Asp1297Asn) c.665-469G>A (n.665-469G>A) c.707-469G>A (n.707-469G>A) c.351G>A c.671-469G>A (n.671-469G>A) c.*3813G>A (n.*3813G>A) c.324G>A c.788-469G>A (n.788-469G>A) c.410-469G>A (n.410-469G>A) c.413-469G>A (n.413-469G>A) c.5-27550G>A (n.5-27550G>A) c.-43-16980G>A (n.-43-16980G>A) c.-99+33770G>A (n.-99+33770G>A) n.4166G>A n.4207G>A | dbSNP COSMIC COSMIC |
| 17 | g.43091502A>C | CA10593900 | BRCA1 | n.4093T>G c.4029T>G (p.Asp1343Glu) c.3903T>G (p.Asp1301Glu) c.4026T>G (p.Asp1342Glu) c.3951T>G (p.Asp1317Glu) c.785-470T>G (n.785-470T>G) c.647-470T>G (n.647-470T>G) c.3141T>G (p.Asp1047Glu) c.3906T>G (p.Asp1302Glu) c.3888T>G (p.Asp1296Glu) c.665-470T>G (n.665-470T>G) c.707-470T>G (n.707-470T>G) c.350T>G c.671-470T>G (n.671-470T>G) c.*3812T>G (n.*3812T>G) c.323T>G c.788-470T>G (n.788-470T>G) c.410-470T>G (n.410-470T>G) c.413-470T>G (n.413-470T>G) c.5-27551T>G (n.5-27551T>G) c.-43-16981T>G (n.-43-16981T>G) c.-99+33769T>G (n.-99+33769T>G) n.4165T>G n.4206T>G | |
| 17 | g.43091502A>G | CA500231998 | BRCA1 | n.4093T>C c.4029T>C (p.Asp1343=) c.3903T>C (p.Asp1301=) c.4026T>C (p.Asp1342=) c.3951T>C (p.Asp1317=) c.785-470T>C (n.785-470T>C) c.647-470T>C (n.647-470T>C) c.3141T>C (p.Asp1047=) c.3906T>C (p.Asp1302=) c.3888T>C (p.Asp1296=) c.665-470T>C (n.665-470T>C) c.707-470T>C (n.707-470T>C) c.350T>C c.671-470T>C (n.671-470T>C) c.*3812T>C (n.*3812T>C) c.323T>C c.788-470T>C (n.788-470T>C) c.410-470T>C (n.410-470T>C) c.413-470T>C (n.413-470T>C) c.5-27551T>C (n.5-27551T>C) c.-43-16981T>C (n.-43-16981T>C) c.-99+33769T>C (n.-99+33769T>C) n.4165T>C n.4206T>C | |
| 17 | g.43091502A>T | CA10593901 | BRCA1 | n.4093T>A c.4029T>A (p.Asp1343Glu) c.3903T>A (p.Asp1301Glu) c.4026T>A (p.Asp1342Glu) c.3951T>A (p.Asp1317Glu) c.785-470T>A (n.785-470T>A) c.647-470T>A (n.647-470T>A) c.3141T>A (p.Asp1047Glu) c.3906T>A (p.Asp1302Glu) c.3888T>A (p.Asp1296Glu) c.665-470T>A (n.665-470T>A) c.707-470T>A (n.707-470T>A) c.350T>A c.671-470T>A (n.671-470T>A) c.*3812T>A (n.*3812T>A) c.323T>A c.788-470T>A (n.788-470T>A) c.410-470T>A (n.410-470T>A) c.413-470T>A (n.413-470T>A) c.5-27551T>A (n.5-27551T>A) c.-43-16981T>A (n.-43-16981T>A) c.-99+33769T>A (n.-99+33769T>A) n.4165T>A n.4206T>A | COSMIC COSMIC |
| 17 | g.43091503T>A | CA059047 | BRCA1 | n.4092A>T c.4028A>T (p.Asp1343Val) c.3902A>T (p.Asp1301Val) c.4025A>T (p.Asp1342Val) c.3950A>T (p.Asp1317Val) c.785-471A>T (n.785-471A>T) c.647-471A>T (n.647-471A>T) c.3140A>T (p.Asp1047Val) c.3905A>T (p.Asp1302Val) c.3887A>T (p.Asp1296Val) c.665-471A>T (n.665-471A>T) c.707-471A>T (n.707-471A>T) c.349A>T c.671-471A>T (n.671-471A>T) c.*3811A>T (n.*3811A>T) c.322A>T c.788-471A>T (n.788-471A>T) c.410-471A>T (n.410-471A>T) c.413-471A>T (n.413-471A>T) c.5-27552A>T (n.5-27552A>T) c.-43-16982A>T (n.-43-16982A>T) c.-99+33768A>T (n.-99+33768A>T) n.4164A>T n.4205A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.43091503T>C | CA10593902 | BRCA1 | n.4092A>G c.4028A>G (p.Asp1343Gly) c.3902A>G (p.Asp1301Gly) c.4025A>G (p.Asp1342Gly) c.3950A>G (p.Asp1317Gly) c.785-471A>G (n.785-471A>G) c.647-471A>G (n.647-471A>G) c.3140A>G (p.Asp1047Gly) c.3905A>G (p.Asp1302Gly) c.3887A>G (p.Asp1296Gly) c.665-471A>G (n.665-471A>G) c.707-471A>G (n.707-471A>G) c.349A>G c.671-471A>G (n.671-471A>G) c.*3811A>G (n.*3811A>G) c.322A>G c.788-471A>G (n.788-471A>G) c.410-471A>G (n.410-471A>G) c.413-471A>G (n.413-471A>G) c.5-27552A>G (n.5-27552A>G) c.-43-16982A>G (n.-43-16982A>G) c.-99+33768A>G (n.-99+33768A>G) n.4164A>G n.4205A>G | ClinVar dbSNP |
| 17 | g.43091503T>G | CA10593903 | BRCA1 | n.4092A>C c.4028A>C (p.Asp1343Ala) c.3902A>C (p.Asp1301Ala) c.4025A>C (p.Asp1342Ala) c.3950A>C (p.Asp1317Ala) c.785-471A>C (n.785-471A>C) c.647-471A>C (n.647-471A>C) c.3140A>C (p.Asp1047Ala) c.3905A>C (p.Asp1302Ala) c.3887A>C (p.Asp1296Ala) c.665-471A>C (n.665-471A>C) c.707-471A>C (n.707-471A>C) c.349A>C c.671-471A>C (n.671-471A>C) c.*3811A>C (n.*3811A>C) c.322A>C c.788-471A>C (n.788-471A>C) c.410-471A>C (n.410-471A>C) c.413-471A>C (n.413-471A>C) c.5-27552A>C (n.5-27552A>C) c.-43-16982A>C (n.-43-16982A>C) c.-99+33768A>C (n.-99+33768A>C) n.4164A>C n.4205A>C | |
| 17 | g.43091503T= | CA2260781986 | BRCA1 | n.4092A= c.4028A= (p.Asp1343=) c.3902A= (p.Asp1301=) c.4025A= (p.Asp1342=) c.3950A= (p.Asp1317=) c.785-471A= (n.785-471A=) c.647-471A= (n.647-471A=) c.3140A= (p.Asp1047=) c.3905A= (p.Asp1302=) c.3887A= (p.Asp1296=) c.665-471A= (n.665-471A=) c.707-471A= (n.707-471A=) c.349A= c.671-471A= (n.671-471A=) c.*3811A= (n.*3811A=) c.322A= c.788-471A= (n.788-471A=) c.410-471A= (n.410-471A=) c.413-471A= (n.413-471A=) c.5-27552A= (n.5-27552A=) c.-43-16982A= (n.-43-16982A=) c.-99+33768A= (n.-99+33768A=) n.4164A= n.4205A= | |
| 17 | g.43091504C>A | CA10593904 | BRCA1 | n.4091G>T c.4027G>T (p.Asp1343Tyr) c.3901G>T (p.Asp1301Tyr) c.4024G>T (p.Asp1342Tyr) c.3949G>T (p.Asp1317Tyr) c.785-472G>T (n.785-472G>T) c.647-472G>T (n.647-472G>T) c.3139G>T (p.Asp1047Tyr) c.3904G>T (p.Asp1302Tyr) c.3886G>T (p.Asp1296Tyr) c.665-472G>T (n.665-472G>T) c.707-472G>T (n.707-472G>T) c.348G>T c.671-472G>T (n.671-472G>T) c.*3810G>T (n.*3810G>T) c.321G>T c.788-472G>T (n.788-472G>T) c.410-472G>T (n.410-472G>T) c.413-472G>T (n.413-472G>T) c.5-27553G>T (n.5-27553G>T) c.-43-16983G>T (n.-43-16983G>T) c.-99+33767G>T (n.-99+33767G>T) n.4163G>T n.4204G>T | ClinVar dbSNP |
| 17 | g.43091504C= | CA2260781987 | BRCA1 | n.4091G= c.4027G= (p.Asp1343=) c.3901G= (p.Asp1301=) c.4024G= (p.Asp1342=) c.3949G= (p.Asp1317=) c.785-472G= (n.785-472G=) c.647-472G= (n.647-472G=) c.3139G= (p.Asp1047=) c.3904G= (p.Asp1302=) c.3886G= (p.Asp1296=) c.665-472G= (n.665-472G=) c.707-472G= (n.707-472G=) c.348G= c.671-472G= (n.671-472G=) c.*3810G= (n.*3810G=) c.321G= c.788-472G= (n.788-472G=) c.410-472G= (n.410-472G=) c.413-472G= (n.413-472G=) c.5-27553G= (n.5-27553G=) c.-43-16983G= (n.-43-16983G=) c.-99+33767G= (n.-99+33767G=) n.4163G= n.4204G= | |
| 17 | g.43091504C>G | CA10593905 | BRCA1 | n.4091G>C c.4027G>C (p.Asp1343His) c.3901G>C (p.Asp1301His) c.4024G>C (p.Asp1342His) c.3949G>C (p.Asp1317His) c.785-472G>C (n.785-472G>C) c.647-472G>C (n.647-472G>C) c.3139G>C (p.Asp1047His) c.3904G>C (p.Asp1302His) c.3886G>C (p.Asp1296His) c.665-472G>C (n.665-472G>C) c.707-472G>C (n.707-472G>C) c.348G>C c.671-472G>C (n.671-472G>C) c.*3810G>C (n.*3810G>C) c.321G>C c.788-472G>C (n.788-472G>C) c.410-472G>C (n.410-472G>C) c.413-472G>C (n.413-472G>C) c.5-27553G>C (n.5-27553G>C) c.-43-16983G>C (n.-43-16983G>C) c.-99+33767G>C (n.-99+33767G>C) n.4163G>C n.4204G>C | ClinVar dbSNP |
| 17 | g.43091504C>T | CA10593906 | BRCA1 | n.4091G>A c.4027G>A (p.Asp1343Asn) c.3901G>A (p.Asp1301Asn) c.4024G>A (p.Asp1342Asn) c.3949G>A (p.Asp1317Asn) c.785-472G>A (n.785-472G>A) c.647-472G>A (n.647-472G>A) c.3139G>A (p.Asp1047Asn) c.3904G>A (p.Asp1302Asn) c.3886G>A (p.Asp1296Asn) c.665-472G>A (n.665-472G>A) c.707-472G>A (n.707-472G>A) c.348G>A c.671-472G>A (n.671-472G>A) c.*3810G>A (n.*3810G>A) c.321G>A c.788-472G>A (n.788-472G>A) c.410-472G>A (n.410-472G>A) c.413-472G>A (n.413-472G>A) c.5-27553G>A (n.5-27553G>A) c.-43-16983G>A (n.-43-16983G>A) c.-99+33767G>A (n.-99+33767G>A) n.4163G>A n.4204G>A | dbSNP |
| 17 | g.43091505T>A | CA500231999 | BRCA1 | n.4090A>T c.4026A>T (p.Ser1342=) c.3900A>T (p.Ser1300=) c.4023A>T (p.Ser1341=) c.3948A>T (p.Ser1316=) c.785-473A>T (n.785-473A>T) c.647-473A>T (n.647-473A>T) c.3138A>T (p.Ser1046=) c.3903A>T (p.Ser1301=) c.3885A>T (p.Ser1295=) c.665-473A>T (n.665-473A>T) c.707-473A>T (n.707-473A>T) c.347A>T c.671-473A>T (n.671-473A>T) c.*3809A>T (n.*3809A>T) c.320A>T c.788-473A>T (n.788-473A>T) c.410-473A>T (n.410-473A>T) c.413-473A>T (n.413-473A>T) c.5-27554A>T (n.5-27554A>T) c.-43-16984A>T (n.-43-16984A>T) c.-99+33766A>T (n.-99+33766A>T) n.4162A>T n.4203A>T | dbSNP |
| 17 | g.43091505T>C | CA002570 | BRCA1 | n.4090A>G c.4026A>G (p.Ser1342=) c.3900A>G (p.Ser1300=) c.4023A>G (p.Ser1341=) c.3948A>G (p.Ser1316=) c.785-473A>G (n.785-473A>G) c.647-473A>G (n.647-473A>G) c.3138A>G (p.Ser1046=) c.3903A>G (p.Ser1301=) c.3885A>G (p.Ser1295=) c.665-473A>G (n.665-473A>G) c.707-473A>G (n.707-473A>G) c.347A>G c.671-473A>G (n.671-473A>G) c.*3809A>G (n.*3809A>G) c.320A>G c.788-473A>G (n.788-473A>G) c.410-473A>G (n.410-473A>G) c.413-473A>G (n.413-473A>G) c.5-27554A>G (n.5-27554A>G) c.-43-16984A>G (n.-43-16984A>G) c.-99+33766A>G (n.-99+33766A>G) n.4162A>G n.4203A>G | ClinVar dbSNP gnomAD v4 |
| 17 | g.43091505T>G | CA290832322 | BRCA1 | n.4090A>C c.4026A>C (p.Ser1342=) c.3900A>C (p.Ser1300=) c.4023A>C (p.Ser1341=) c.3948A>C (p.Ser1316=) c.785-473A>C (n.785-473A>C) c.647-473A>C (n.647-473A>C) c.3138A>C (p.Ser1046=) c.3903A>C (p.Ser1301=) c.3885A>C (p.Ser1295=) c.665-473A>C (n.665-473A>C) c.707-473A>C (n.707-473A>C) c.347A>C c.671-473A>C (n.671-473A>C) c.*3809A>C (n.*3809A>C) c.320A>C c.788-473A>C (n.788-473A>C) c.410-473A>C (n.410-473A>C) c.413-473A>C (n.413-473A>C) c.5-27554A>C (n.5-27554A>C) c.-43-16984A>C (n.-43-16984A>C) c.-99+33766A>C (n.-99+33766A>C) n.4162A>C n.4203A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.43091505T= | CA2260781988 | BRCA1 | n.4090A= c.4026A= (p.Ser1342=) c.3900A= (p.Ser1300=) c.4023A= (p.Ser1341=) c.3948A= (p.Ser1316=) c.785-473A= (n.785-473A=) c.647-473A= (n.647-473A=) c.3138A= (p.Ser1046=) c.3903A= (p.Ser1301=) c.3885A= (p.Ser1295=) c.665-473A= (n.665-473A=) c.707-473A= (n.707-473A=) c.347A= c.671-473A= (n.671-473A=) c.*3809A= (n.*3809A=) c.320A= c.788-473A= (n.788-473A=) c.410-473A= (n.410-473A=) c.413-473A= (n.413-473A=) c.5-27554A= (n.5-27554A=) c.-43-16984A= (n.-43-16984A=) c.-99+33766A= (n.-99+33766A=) n.4162A= n.4203A= | |
| 17 | g.43091506G>A | CA10593907 | BRCA1 | n.4089C>T c.4025C>T (p.Ser1342Leu) c.3899C>T (p.Ser1300Leu) c.4022C>T (p.Ser1341Leu) c.3947C>T (p.Ser1316Leu) c.785-474C>T (n.785-474C>T) c.647-474C>T (n.647-474C>T) c.3137C>T (p.Ser1046Leu) c.3902C>T (p.Ser1301Leu) c.3884C>T (p.Ser1295Leu) c.665-474C>T (n.665-474C>T) c.707-474C>T (n.707-474C>T) c.346C>T c.671-474C>T (n.671-474C>T) c.*3808C>T (n.*3808C>T) c.319C>T c.788-474C>T (n.788-474C>T) c.410-474C>T (n.410-474C>T) c.413-474C>T (n.413-474C>T) c.5-27555C>T (n.5-27555C>T) c.-43-16985C>T (n.-43-16985C>T) c.-99+33765C>T (n.-99+33765C>T) n.4161C>T n.4202C>T | dbSNP COSMIC COSMIC |
| 17 | g.43091506G>C | CA10593908 | BRCA1 | n.4089C>G c.4025C>G (p.Ser1342Ter) c.3899C>G (p.Ser1300Ter) c.4022C>G (p.Ser1341Ter) c.3947C>G (p.Ser1316Ter) c.785-474C>G (n.785-474C>G) c.647-474C>G (n.647-474C>G) c.3137C>G (p.Ser1046Ter) c.3902C>G (p.Ser1301Ter) c.3884C>G (p.Ser1295Ter) c.665-474C>G (n.665-474C>G) c.707-474C>G (n.707-474C>G) c.346C>G c.671-474C>G (n.671-474C>G) c.*3808C>G (n.*3808C>G) c.319C>G c.788-474C>G (n.788-474C>G) c.410-474C>G (n.410-474C>G) c.413-474C>G (n.413-474C>G) c.5-27555C>G (n.5-27555C>G) c.-43-16985C>G (n.-43-16985C>G) c.-99+33765C>G (n.-99+33765C>G) n.4161C>G n.4202C>G |