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.43091462_43091464del | CA915950082 | BRCA1 | n.4135_4137del c.4071_4073del (p.Glu1358del) c.3945_3947del (p.Glu1316del) c.4068_4070del (p.Glu1357del) c.3993_3995del (p.Glu1332del) c.785-428_785-426del (n.785-428_785-426del) c.647-428_647-426del (n.647-428_647-426del) c.3183_3185del (p.Glu1062del) c.3948_3950del (p.Glu1317del) c.3930_3932del (p.Glu1311del) c.665-428_665-426del (n.665-428_665-426del) c.707-428_707-426del (n.707-428_707-426del) c.392_394del c.671-428_671-426del (n.671-428_671-426del) c.*3854_*3856del (n.*3854_*3856del) c.365_367del c.788-428_788-426del (n.788-428_788-426del) c.410-428_410-426del (n.410-428_410-426del) c.413-428_413-426del (n.413-428_413-426del) c.5-27509_5-27507del (n.5-27509_5-27507del) c.-43-16939_-43-16937del (n.-43-16939_-43-16937del) c.-99+33811_-99+33813del (n.-99+33811_-99+33813del) n.4207_4209del n.4248_4250del | ClinVar dbSNP |
17 | g.43091460_43091464del | CA2573154018 | BRCA1 | n.4131_4135del c.4067_4071del (p.Gln1356ArgfsTer10) c.3941_3945del (p.Gln1314ArgfsTer10) c.4064_4068del (p.Gln1355ArgfsTer10) c.3989_3993del (p.Gln1330ArgfsTer10) c.785-432_785-428del (n.785-432_785-428del) c.647-432_647-428del (n.647-432_647-428del) c.3179_3183del (p.Gln1060ArgfsTer10) c.3944_3948del (p.Gln1315ArgfsTer10) c.3926_3930del (p.Gln1309ArgfsTer10) c.665-432_665-428del (n.665-432_665-428del) c.707-432_707-428del (n.707-432_707-428del) c.388_392del c.671-432_671-428del (n.671-432_671-428del) c.4067_4071del (p.Gln1356ArgfsTer23) c.*3850_*3854del (n.*3850_*3854del) c.361_365del c.788-432_788-428del (n.788-432_788-428del) c.410-432_410-428del (n.410-432_410-428del) c.413-432_413-428del (n.413-432_413-428del) c.5-27513_5-27509del (n.5-27513_5-27509del) c.-43-16943_-43-16939del (n.-43-16943_-43-16939del) c.-99+33807_-99+33811del (n.-99+33807_-99+33811del) n.4203_4207del n.4244_4248del | ClinVar dbSNP |
17 | g.43091462_43091463insAATC | CA658825031 | BRCA1 | n.4134_4135insTTGA c.4070_4071insTTGA (p.Glu1357AspfsTer2) c.3944_3945insTTGA (p.Glu1315AspfsTer2) c.4067_4068insTTGA (p.Glu1356AspfsTer2) c.3992_3993insTTGA (p.Glu1331AspfsTer2) c.785-429_785-428insTTGA (n.785-429_785-428insTTGA) c.647-429_647-428insTTGA (n.647-429_647-428insTTGA) c.3182_3183insTTGA (p.Glu1061AspfsTer2) c.3947_3948insTTGA (p.Glu1316AspfsTer2) c.3929_3930insTTGA (p.Glu1310AspfsTer2) c.665-429_665-428insTTGA (n.665-429_665-428insTTGA) c.707-429_707-428insTTGA (n.707-429_707-428insTTGA) c.391_392insTTGA c.671-429_671-428insTTGA (n.671-429_671-428insTTGA) c.*3853_*3854insTTGA (n.*3853_*3854insTTGA) c.364_365insTTGA c.788-429_788-428insTTGA (n.788-429_788-428insTTGA) c.410-429_410-428insTTGA (n.410-429_410-428insTTGA) c.413-429_413-428insTTGA (n.413-429_413-428insTTGA) c.5-27510_5-27509insTTGA (n.5-27510_5-27509insTTGA) c.-43-16940_-43-16939insTTGA (n.-43-16940_-43-16939insTTGA) c.-99+33810_-99+33811insTTGA (n.-99+33810_-99+33811insTTGA) n.4206_4207insTTGA n.4247_4248insTTGA | ClinVar dbSNP |
17 | g.43091461_43091463delinsTCT | CA2260781937 | BRCA1 | n.4132_4134delinsAGA c.4068_4070delinsAGA (p.Gln1356=) c.3942_3944delinsAGA (p.Gln1314=) c.4065_4067delinsAGA (p.Gln1355=) c.3990_3992delinsAGA (p.Gln1330=) c.785-431_785-429delinsAGA (n.785-431_785-429delinsAGA) c.647-431_647-429delinsAGA (n.647-431_647-429delinsAGA) c.3180_3182delinsAGA (p.Gln1060=) c.3945_3947delinsAGA (p.Gln1315=) c.3927_3929delinsAGA (p.Gln1309=) c.665-431_665-429delinsAGA (n.665-431_665-429delinsAGA) c.707-431_707-429delinsAGA (n.707-431_707-429delinsAGA) c.389_391delinsAGA c.671-431_671-429delinsAGA (n.671-431_671-429delinsAGA) c.*3851_*3853delinsAGA (n.*3851_*3853delinsAGA) c.362_364delinsAGA c.788-431_788-429delinsAGA (n.788-431_788-429delinsAGA) c.410-431_410-429delinsAGA (n.410-431_410-429delinsAGA) c.413-431_413-429delinsAGA (n.413-431_413-429delinsAGA) c.5-27512_5-27510delinsAGA (n.5-27512_5-27510delinsAGA) c.-43-16942_-43-16940delinsAGA (n.-43-16942_-43-16940delinsAGA) c.-99+33808_-99+33810delinsAGA (n.-99+33808_-99+33810delinsAGA) n.4204_4206delinsAGA n.4245_4247delinsAGA | |
17 | g.43091461_43091465delinsTCTTG | CA2260781939 | BRCA1 | n.4130_4134delinsCAAGA c.4066_4070delinsCAAGA (p.Gln1356=) c.3940_3944delinsCAAGA (p.Gln1314=) c.4063_4067delinsCAAGA (p.Gln1355=) c.3988_3992delinsCAAGA (p.Gln1330=) c.785-433_785-429delinsCAAGA (n.785-433_785-429delinsCAAGA) c.647-433_647-429delinsCAAGA (n.647-433_647-429delinsCAAGA) c.3178_3182delinsCAAGA (p.Gln1060=) c.3943_3947delinsCAAGA (p.Gln1315=) c.3925_3929delinsCAAGA (p.Gln1309=) c.665-433_665-429delinsCAAGA (n.665-433_665-429delinsCAAGA) c.707-433_707-429delinsCAAGA (n.707-433_707-429delinsCAAGA) c.387_391delinsCAAGA c.671-433_671-429delinsCAAGA (n.671-433_671-429delinsCAAGA) c.*3849_*3853delinsCAAGA (n.*3849_*3853delinsCAAGA) c.360_364delinsCAAGA c.788-433_788-429delinsCAAGA (n.788-433_788-429delinsCAAGA) c.410-433_410-429delinsCAAGA (n.410-433_410-429delinsCAAGA) c.413-433_413-429delinsCAAGA (n.413-433_413-429delinsCAAGA) c.5-27514_5-27510delinsCAAGA (n.5-27514_5-27510delinsCAAGA) c.-43-16944_-43-16940delinsCAAGA (n.-43-16944_-43-16940delinsCAAGA) c.-99+33806_-99+33810delinsCAAGA (n.-99+33806_-99+33810delinsCAAGA) n.4202_4206delinsCAAGA n.4243_4247delinsCAAGA | |
17 | g.43091462C>A | CA10589695 | BRCA1 | n.4133G>T c.4069G>T (p.Glu1357Ter) c.3943G>T (p.Glu1315Ter) c.4066G>T (p.Glu1356Ter) c.3991G>T (p.Glu1331Ter) c.785-430G>T (n.785-430G>T) c.647-430G>T (n.647-430G>T) c.3181G>T (p.Glu1061Ter) c.3946G>T (p.Glu1316Ter) c.3928G>T (p.Glu1310Ter) c.665-430G>T (n.665-430G>T) c.707-430G>T (n.707-430G>T) c.390G>T c.671-430G>T (n.671-430G>T) c.*3852G>T (n.*3852G>T) c.363G>T c.788-430G>T (n.788-430G>T) c.410-430G>T (n.410-430G>T) c.413-430G>T (n.413-430G>T) c.5-27511G>T (n.5-27511G>T) c.-43-16941G>T (n.-43-16941G>T) c.-99+33809G>T (n.-99+33809G>T) n.4205G>T n.4246G>T | ClinVar dbSNP |
17 | g.43091462C= | CA2260781940 | BRCA1 | n.4133G= c.4069G= (p.Glu1357=) c.3943G= (p.Glu1315=) c.4066G= (p.Glu1356=) c.3991G= (p.Glu1331=) c.785-430G= (n.785-430G=) c.647-430G= (n.647-430G=) c.3181G= (p.Glu1061=) c.3946G= (p.Glu1316=) c.3928G= (p.Glu1310=) c.665-430G= (n.665-430G=) c.707-430G= (n.707-430G=) c.390G= c.671-430G= (n.671-430G=) c.*3852G= (n.*3852G=) c.363G= c.788-430G= (n.788-430G=) c.410-430G= (n.410-430G=) c.413-430G= (n.413-430G=) c.5-27511G= (n.5-27511G=) c.-43-16941G= (n.-43-16941G=) c.-99+33809G= (n.-99+33809G=) n.4205G= n.4246G= | |
17 | g.43091462C>G | CA10593821 | BRCA1 | n.4133G>C c.4069G>C (p.Glu1357Gln) c.3943G>C (p.Glu1315Gln) c.4066G>C (p.Glu1356Gln) c.3991G>C (p.Glu1331Gln) c.785-430G>C (n.785-430G>C) c.647-430G>C (n.647-430G>C) c.3181G>C (p.Glu1061Gln) c.3946G>C (p.Glu1316Gln) c.3928G>C (p.Glu1310Gln) c.665-430G>C (n.665-430G>C) c.707-430G>C (n.707-430G>C) c.390G>C c.671-430G>C (n.671-430G>C) c.*3852G>C (n.*3852G>C) c.363G>C c.788-430G>C (n.788-430G>C) c.410-430G>C (n.410-430G>C) c.413-430G>C (n.413-430G>C) c.5-27511G>C (n.5-27511G>C) c.-43-16941G>C (n.-43-16941G>C) c.-99+33809G>C (n.-99+33809G>C) n.4205G>C n.4246G>C | ClinVar dbSNP |
17 | g.43091462C>T | CA10593822 | BRCA1 | n.4133G>A c.4069G>A (p.Glu1357Lys) c.3943G>A (p.Glu1315Lys) c.4066G>A (p.Glu1356Lys) c.3991G>A (p.Glu1331Lys) c.785-430G>A (n.785-430G>A) c.647-430G>A (n.647-430G>A) c.3181G>A (p.Glu1061Lys) c.3946G>A (p.Glu1316Lys) c.3928G>A (p.Glu1310Lys) c.665-430G>A (n.665-430G>A) c.707-430G>A (n.707-430G>A) c.390G>A c.671-430G>A (n.671-430G>A) c.*3852G>A (n.*3852G>A) c.363G>A c.788-430G>A (n.788-430G>A) c.410-430G>A (n.410-430G>A) c.413-430G>A (n.413-430G>A) c.5-27511G>A (n.5-27511G>A) c.-43-16941G>A (n.-43-16941G>A) c.-99+33809G>A (n.-99+33809G>A) n.4205G>A n.4246G>A | dbSNP |
17 | g.43091462_43091463delinsA | CA1139665606 | BRCA1 | n.4132_4133delinsT c.4068_4069delinsT (p.Gln1356HisfsTer10) c.3942_3943delinsT (p.Gln1314HisfsTer10) c.4065_4066delinsT (p.Gln1355HisfsTer10) c.3990_3991delinsT (p.Gln1330HisfsTer10) c.785-431_785-430delinsT (n.785-431_785-430delinsT) c.647-431_647-430delinsT (n.647-431_647-430delinsT) c.3180_3181delinsT (p.Gln1060HisfsTer10) c.3945_3946delinsT (p.Gln1315HisfsTer10) c.3927_3928delinsT (p.Gln1309HisfsTer10) c.665-431_665-430delinsT (n.665-431_665-430delinsT) c.707-431_707-430delinsT (n.707-431_707-430delinsT) c.389_390delinsT c.671-431_671-430delinsT (n.671-431_671-430delinsT) c.*3851_*3852delinsT (n.*3851_*3852delinsT) c.362_363delinsT c.788-431_788-430delinsT (n.788-431_788-430delinsT) c.410-431_410-430delinsT (n.410-431_410-430delinsT) c.413-431_413-430delinsT (n.413-431_413-430delinsT) c.5-27512_5-27511delinsT (n.5-27512_5-27511delinsT) c.-43-16942_-43-16941delinsT (n.-43-16942_-43-16941delinsT) c.-99+33808_-99+33809delinsT (n.-99+33808_-99+33809delinsT) n.4204_4205delinsT n.4245_4246delinsT | ClinVar dbSNP |
17 | g.43091462_43091465del | CA002598 | BRCA1 | n.4130_4133del c.4066_4069del (p.Gln1356LysfsTer9) c.3940_3943del (p.Gln1314LysfsTer9) c.4063_4066del (p.Gln1355LysfsTer9) c.3988_3991del (p.Gln1330LysfsTer9) c.785-433_785-430del (n.785-433_785-430del) c.647-433_647-430del (n.647-433_647-430del) c.3178_3181del (p.Gln1060LysfsTer9) c.3943_3946del (p.Gln1315LysfsTer9) c.3925_3928del (p.Gln1309LysfsTer9) c.665-433_665-430del (n.665-433_665-430del) c.707-433_707-430del (n.707-433_707-430del) c.387_390del c.671-433_671-430del (n.671-433_671-430del) c.*3849_*3852del (n.*3849_*3852del) c.360_363del c.788-433_788-430del (n.788-433_788-430del) c.410-433_410-430del (n.410-433_410-430del) c.413-433_413-430del (n.413-433_413-430del) c.5-27514_5-27511del (n.5-27514_5-27511del) c.-43-16944_-43-16941del (n.-43-16944_-43-16941del) c.-99+33806_-99+33809del (n.-99+33806_-99+33809del) n.4202_4205del n.4243_4246del | ClinVar dbSNP |
17 | g.43091462_43091466delinsCTTGA | CA2260781942 | BRCA1 | n.4129_4133delinsTCAAG c.4065_4069delinsTCAAG (p.Asn1355=) c.3939_3943delinsTCAAG (p.Asn1313=) c.4062_4066delinsTCAAG (p.Asn1354=) c.3987_3991delinsTCAAG (p.Asn1329=) c.785-434_785-430delinsTCAAG (n.785-434_785-430delinsTCAAG) c.647-434_647-430delinsTCAAG (n.647-434_647-430delinsTCAAG) c.3177_3181delinsTCAAG (p.Asn1059=) c.3942_3946delinsTCAAG (p.Asn1314=) c.3924_3928delinsTCAAG (p.Asn1308=) c.665-434_665-430delinsTCAAG (n.665-434_665-430delinsTCAAG) c.707-434_707-430delinsTCAAG (n.707-434_707-430delinsTCAAG) c.386_390delinsTCAAG c.671-434_671-430delinsTCAAG (n.671-434_671-430delinsTCAAG) c.*3848_*3852delinsTCAAG (n.*3848_*3852delinsTCAAG) c.359_363delinsTCAAG c.788-434_788-430delinsTCAAG (n.788-434_788-430delinsTCAAG) c.410-434_410-430delinsTCAAG (n.410-434_410-430delinsTCAAG) c.413-434_413-430delinsTCAAG (n.413-434_413-430delinsTCAAG) c.5-27515_5-27511delinsTCAAG (n.5-27515_5-27511delinsTCAAG) c.-43-16945_-43-16941delinsTCAAG (n.-43-16945_-43-16941delinsTCAAG) c.-99+33805_-99+33809delinsTCAAG (n.-99+33805_-99+33809delinsTCAAG) n.4201_4205delinsTCAAG n.4242_4246delinsTCAAG | |
17 | g.43091462_43091469delinsCTTGATTA | CA2260781941 | BRCA1 | n.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 | |
17 | g.43091463T>A | CA10593823 | BRCA1 | n.4132A>T c.4068A>T (p.Gln1356His) c.3942A>T (p.Gln1314His) c.4065A>T (p.Gln1355His) c.3990A>T (p.Gln1330His) c.785-431A>T (n.785-431A>T) c.647-431A>T (n.647-431A>T) c.3180A>T (p.Gln1060His) c.3945A>T (p.Gln1315His) c.3927A>T (p.Gln1309His) c.665-431A>T (n.665-431A>T) c.707-431A>T (n.707-431A>T) c.389A>T c.671-431A>T (n.671-431A>T) c.*3851A>T (n.*3851A>T) c.362A>T c.788-431A>T (n.788-431A>T) c.410-431A>T (n.410-431A>T) c.413-431A>T (n.413-431A>T) c.5-27512A>T (n.5-27512A>T) c.-43-16942A>T (n.-43-16942A>T) c.-99+33808A>T (n.-99+33808A>T) n.4204A>T n.4245A>T | dbSNP |
17 | g.43091463T>C | CA500231980 | BRCA1 | n.4132A>G c.4068A>G (p.Gln1356=) c.3942A>G (p.Gln1314=) c.4065A>G (p.Gln1355=) c.3990A>G (p.Gln1330=) c.785-431A>G (n.785-431A>G) c.647-431A>G (n.647-431A>G) c.3180A>G (p.Gln1060=) c.3945A>G (p.Gln1315=) c.3927A>G (p.Gln1309=) c.665-431A>G (n.665-431A>G) c.707-431A>G (n.707-431A>G) c.389A>G c.671-431A>G (n.671-431A>G) c.*3851A>G (n.*3851A>G) c.362A>G c.788-431A>G (n.788-431A>G) c.410-431A>G (n.410-431A>G) c.413-431A>G (n.413-431A>G) c.5-27512A>G (n.5-27512A>G) c.-43-16942A>G (n.-43-16942A>G) c.-99+33808A>G (n.-99+33808A>G) n.4204A>G n.4245A>G | gnomAD v4 |
17 | g.43091463T>G | CA10593824 | BRCA1 | n.4132A>C c.4068A>C (p.Gln1356His) c.3942A>C (p.Gln1314His) c.4065A>C (p.Gln1355His) c.3990A>C (p.Gln1330His) c.785-431A>C (n.785-431A>C) c.647-431A>C (n.647-431A>C) c.3180A>C (p.Gln1060His) c.3945A>C (p.Gln1315His) c.3927A>C (p.Gln1309His) c.665-431A>C (n.665-431A>C) c.707-431A>C (n.707-431A>C) c.389A>C c.671-431A>C (n.671-431A>C) c.*3851A>C (n.*3851A>C) c.362A>C c.788-431A>C (n.788-431A>C) c.410-431A>C (n.410-431A>C) c.413-431A>C (n.413-431A>C) c.5-27512A>C (n.5-27512A>C) c.-43-16942A>C (n.-43-16942A>C) c.-99+33808A>C (n.-99+33808A>C) n.4204A>C n.4245A>C | |
17 | g.43091465_43091468del | CA026492 | BRCA1 | n.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 |
17 | g.43091465_43091471del | CA002594 | BRCA1 | n.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 |
17 | g.43091464T>A | CA10593825 | BRCA1 | n.4131A>T c.4067A>T (p.Gln1356Leu) c.3941A>T (p.Gln1314Leu) c.4064A>T (p.Gln1355Leu) c.3989A>T (p.Gln1330Leu) c.785-432A>T (n.785-432A>T) c.647-432A>T (n.647-432A>T) c.3179A>T (p.Gln1060Leu) c.3944A>T (p.Gln1315Leu) c.3926A>T (p.Gln1309Leu) c.665-432A>T (n.665-432A>T) c.707-432A>T (n.707-432A>T) c.388A>T c.671-432A>T (n.671-432A>T) c.*3850A>T (n.*3850A>T) c.361A>T c.788-432A>T (n.788-432A>T) c.410-432A>T (n.410-432A>T) c.413-432A>T (n.413-432A>T) c.5-27513A>T (n.5-27513A>T) c.-43-16943A>T (n.-43-16943A>T) c.-99+33807A>T (n.-99+33807A>T) n.4203A>T n.4244A>T | ClinVar dbSNP |
17 | g.43091464T>C | CA10593826 | BRCA1 | n.4131A>G c.4067A>G (p.Gln1356Arg) c.3941A>G (p.Gln1314Arg) c.4064A>G (p.Gln1355Arg) c.3989A>G (p.Gln1330Arg) c.785-432A>G (n.785-432A>G) c.647-432A>G (n.647-432A>G) c.3179A>G (p.Gln1060Arg) c.3944A>G (p.Gln1315Arg) c.3926A>G (p.Gln1309Arg) c.665-432A>G (n.665-432A>G) c.707-432A>G (n.707-432A>G) c.388A>G c.671-432A>G (n.671-432A>G) c.*3850A>G (n.*3850A>G) c.361A>G c.788-432A>G (n.788-432A>G) c.410-432A>G (n.410-432A>G) c.413-432A>G (n.413-432A>G) c.5-27513A>G (n.5-27513A>G) c.-43-16943A>G (n.-43-16943A>G) c.-99+33807A>G (n.-99+33807A>G) n.4203A>G n.4244A>G | dbSNP |
17 | g.43091464T>G | CA10593827 | BRCA1 | n.4131A>C c.4067A>C (p.Gln1356Pro) c.3941A>C (p.Gln1314Pro) c.4064A>C (p.Gln1355Pro) c.3989A>C (p.Gln1330Pro) c.785-432A>C (n.785-432A>C) c.647-432A>C (n.647-432A>C) c.3179A>C (p.Gln1060Pro) c.3944A>C (p.Gln1315Pro) c.3926A>C (p.Gln1309Pro) c.665-432A>C (n.665-432A>C) c.707-432A>C (n.707-432A>C) c.388A>C c.671-432A>C (n.671-432A>C) c.*3850A>C (n.*3850A>C) c.361A>C c.788-432A>C (n.788-432A>C) c.410-432A>C (n.410-432A>C) c.413-432A>C (n.413-432A>C) c.5-27513A>C (n.5-27513A>C) c.-43-16943A>C (n.-43-16943A>C) c.-99+33807A>C (n.-99+33807A>C) n.4203A>C n.4244A>C | gnomAD v4 |
17 | g.43091464_43091465delinsTG | CA2260781944 | BRCA1 | n.4130_4131delinsCA c.4066_4067delinsCA (p.Gln1356=) c.3940_3941delinsCA (p.Gln1314=) c.4063_4064delinsCA (p.Gln1355=) c.3988_3989delinsCA (p.Gln1330=) c.785-433_785-432delinsCA (n.785-433_785-432delinsCA) c.647-433_647-432delinsCA (n.647-433_647-432delinsCA) c.3178_3179delinsCA (p.Gln1060=) c.3943_3944delinsCA (p.Gln1315=) c.3925_3926delinsCA (p.Gln1309=) c.665-433_665-432delinsCA (n.665-433_665-432delinsCA) c.707-433_707-432delinsCA (n.707-433_707-432delinsCA) c.387_388delinsCA c.671-433_671-432delinsCA (n.671-433_671-432delinsCA) c.*3849_*3850delinsCA (n.*3849_*3850delinsCA) c.360_361delinsCA c.788-433_788-432delinsCA (n.788-433_788-432delinsCA) c.410-433_410-432delinsCA (n.410-433_410-432delinsCA) c.413-433_413-432delinsCA (n.413-433_413-432delinsCA) c.5-27514_5-27513delinsCA (n.5-27514_5-27513delinsCA) c.-43-16944_-43-16943delinsCA (n.-43-16944_-43-16943delinsCA) c.-99+33806_-99+33807delinsCA (n.-99+33806_-99+33807delinsCA) n.4202_4203delinsCA n.4243_4244delinsCA | |
17 | g.43091464_43091467delinsTGAT | CA2260781945 | BRCA1 | n.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 | |
17 | g.43091464_43091469delinsTGATTA | CA2260781943 | BRCA1 | n.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 | |
17 | g.43091465del | CA10589698 | BRCA1 | n.4130del c.4066del (p.Gln1356LysfsTer10) c.3940del (p.Gln1314LysfsTer10) c.4063del (p.Gln1355LysfsTer10) c.3988del (p.Gln1330LysfsTer10) c.785-433del (n.785-433del) c.647-433del (n.647-433del) c.3178del (p.Gln1060LysfsTer10) c.3943del (p.Gln1315LysfsTer10) c.3925del (p.Gln1309LysfsTer10) c.665-433del (n.665-433del) c.707-433del (n.707-433del) c.387del c.671-433del (n.671-433del) c.*3849del (n.*3849del) c.360del c.788-433del (n.788-433del) c.410-433del (n.410-433del) c.413-433del (n.413-433del) c.5-27514del (n.5-27514del) c.-43-16944del (n.-43-16944del) c.-99+33806del (n.-99+33806del) n.4202del n.4243del | ClinVar dbSNP |
17 | g.43091465G>A | CA10589696 | BRCA1 | n.4130C>T c.4066C>T (p.Gln1356Ter) c.3940C>T (p.Gln1314Ter) c.4063C>T (p.Gln1355Ter) c.3988C>T (p.Gln1330Ter) c.785-433C>T (n.785-433C>T) c.647-433C>T (n.647-433C>T) c.3178C>T (p.Gln1060Ter) c.3943C>T (p.Gln1315Ter) c.3925C>T (p.Gln1309Ter) c.665-433C>T (n.665-433C>T) c.707-433C>T (n.707-433C>T) c.387C>T c.671-433C>T (n.671-433C>T) c.*3849C>T (n.*3849C>T) c.360C>T c.788-433C>T (n.788-433C>T) c.410-433C>T (n.410-433C>T) c.413-433C>T (n.413-433C>T) c.5-27514C>T (n.5-27514C>T) c.-43-16944C>T (n.-43-16944C>T) c.-99+33806C>T (n.-99+33806C>T) n.4202C>T n.4243C>T | ClinVar dbSNP |
17 | g.43091465G>C | CA10593828 | BRCA1 | n.4130C>G c.4066C>G (p.Gln1356Glu) c.3940C>G (p.Gln1314Glu) c.4063C>G (p.Gln1355Glu) c.3988C>G (p.Gln1330Glu) c.785-433C>G (n.785-433C>G) c.647-433C>G (n.647-433C>G) c.3178C>G (p.Gln1060Glu) c.3943C>G (p.Gln1315Glu) c.3925C>G (p.Gln1309Glu) c.665-433C>G (n.665-433C>G) c.707-433C>G (n.707-433C>G) c.387C>G c.671-433C>G (n.671-433C>G) c.*3849C>G (n.*3849C>G) c.360C>G c.788-433C>G (n.788-433C>G) c.410-433C>G (n.410-433C>G) c.413-433C>G (n.413-433C>G) c.5-27514C>G (n.5-27514C>G) c.-43-16944C>G (n.-43-16944C>G) c.-99+33806C>G (n.-99+33806C>G) n.4202C>G n.4243C>G | dbSNP |
17 | g.43091465G= | CA2260781946 | BRCA1 | n.4130C= c.4066C= (p.Gln1356=) c.3940C= (p.Gln1314=) c.4063C= (p.Gln1355=) c.3988C= (p.Gln1330=) c.785-433C= (n.785-433C=) c.647-433C= (n.647-433C=) c.3178C= (p.Gln1060=) c.3943C= (p.Gln1315=) c.3925C= (p.Gln1309=) c.665-433C= (n.665-433C=) c.707-433C= (n.707-433C=) c.387C= c.671-433C= (n.671-433C=) c.*3849C= (n.*3849C=) c.360C= c.788-433C= (n.788-433C=) c.410-433C= (n.410-433C=) c.413-433C= (n.413-433C=) c.5-27514C= (n.5-27514C=) c.-43-16944C= (n.-43-16944C=) c.-99+33806C= (n.-99+33806C=) n.4202C= n.4243C= | |
17 | g.43091465G>T | CA10593829 | BRCA1 | n.4130C>A c.4066C>A (p.Gln1356Lys) c.3940C>A (p.Gln1314Lys) c.4063C>A (p.Gln1355Lys) c.3988C>A (p.Gln1330Lys) c.785-433C>A (n.785-433C>A) c.647-433C>A (n.647-433C>A) c.3178C>A (p.Gln1060Lys) c.3943C>A (p.Gln1315Lys) c.3925C>A (p.Gln1309Lys) c.665-433C>A (n.665-433C>A) c.707-433C>A (n.707-433C>A) c.387C>A c.671-433C>A (n.671-433C>A) c.*3849C>A (n.*3849C>A) c.360C>A c.788-433C>A (n.788-433C>A) c.410-433C>A (n.410-433C>A) c.413-433C>A (n.413-433C>A) c.5-27514C>A (n.5-27514C>A) c.-43-16944C>A (n.-43-16944C>A) c.-99+33806C>A (n.-99+33806C>A) n.4202C>A n.4243C>A | ClinVar dbSNP |
17 | g.43091465_43091467delinsA | CA16615383 | BRCA1 | n.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 |
17 | g.43091465_43091468delinsGATT | CA2260781948 | BRCA1 | n.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 | |
17 | g.43091465_43091469del | CA10589697 | BRCA1 | n.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 |
17 | g.43091465_43091469delinsGATTA | CA2260781947 | BRCA1 | n.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 | |
17 | g.43091465_43091466insGCA | CA2556619336 | BRCA1 | n.4129_4130insTGC c.4065_4066insTGC (p.Asn1355_Gln1356insCys) c.3939_3940insTGC (p.Asn1313_Gln1314insCys) c.4062_4063insTGC (p.Asn1354_Gln1355insCys) c.3987_3988insTGC (p.Asn1329_Gln1330insCys) c.785-434_785-433insTGC (n.785-434_785-433insTGC) c.647-434_647-433insTGC (n.647-434_647-433insTGC) c.3177_3178insTGC (p.Asn1059_Gln1060insCys) c.3942_3943insTGC (p.Asn1314_Gln1315insCys) c.3924_3925insTGC (p.Asn1308_Gln1309insCys) c.665-434_665-433insTGC (n.665-434_665-433insTGC) c.707-434_707-433insTGC (n.707-434_707-433insTGC) c.386_387insTGC c.671-434_671-433insTGC (n.671-434_671-433insTGC) c.*3848_*3849insTGC (n.*3848_*3849insTGC) c.359_360insTGC c.788-434_788-433insTGC (n.788-434_788-433insTGC) c.410-434_410-433insTGC (n.410-434_410-433insTGC) c.413-434_413-433insTGC (n.413-434_413-433insTGC) c.5-27515_5-27514insTGC (n.5-27515_5-27514insTGC) c.-43-16945_-43-16944insTGC (n.-43-16945_-43-16944insTGC) c.-99+33805_-99+33806insTGC (n.-99+33805_-99+33806insTGC) n.4201_4202insTGC n.4242_4243insTGC | |
17 | g.43091466A= | CA2260781949 | BRCA1 | n.4129T= c.4065T= (p.Asn1355=) c.3939T= (p.Asn1313=) c.4062T= (p.Asn1354=) c.3987T= (p.Asn1329=) c.785-434T= (n.785-434T=) c.647-434T= (n.647-434T=) c.3177T= (p.Asn1059=) c.3942T= (p.Asn1314=) c.3924T= (p.Asn1308=) c.665-434T= (n.665-434T=) c.707-434T= (n.707-434T=) c.386T= c.671-434T= (n.671-434T=) c.*3848T= (n.*3848T=) c.359T= c.788-434T= (n.788-434T=) c.410-434T= (n.410-434T=) c.413-434T= (n.413-434T=) c.5-27515T= (n.5-27515T=) c.-43-16945T= (n.-43-16945T=) c.-99+33805T= (n.-99+33805T=) n.4201T= n.4242T= | |
17 | g.43091466A>C | CA10593830 | BRCA1 | n.4129T>G c.4065T>G (p.Asn1355Lys) c.3939T>G (p.Asn1313Lys) c.4062T>G (p.Asn1354Lys) c.3987T>G (p.Asn1329Lys) c.785-434T>G (n.785-434T>G) c.647-434T>G (n.647-434T>G) c.3177T>G (p.Asn1059Lys) c.3942T>G (p.Asn1314Lys) c.3924T>G (p.Asn1308Lys) c.665-434T>G (n.665-434T>G) c.707-434T>G (n.707-434T>G) c.386T>G c.671-434T>G (n.671-434T>G) c.*3848T>G (n.*3848T>G) c.359T>G c.788-434T>G (n.788-434T>G) c.410-434T>G (n.410-434T>G) c.413-434T>G (n.413-434T>G) c.5-27515T>G (n.5-27515T>G) c.-43-16945T>G (n.-43-16945T>G) c.-99+33805T>G (n.-99+33805T>G) n.4201T>G n.4242T>G | |
17 | g.43091466A>G | CA500231981 | BRCA1 | n.4129T>C c.4065T>C (p.Asn1355=) c.3939T>C (p.Asn1313=) c.4062T>C (p.Asn1354=) c.3987T>C (p.Asn1329=) c.785-434T>C (n.785-434T>C) c.647-434T>C (n.647-434T>C) c.3177T>C (p.Asn1059=) c.3942T>C (p.Asn1314=) c.3924T>C (p.Asn1308=) c.665-434T>C (n.665-434T>C) c.707-434T>C (n.707-434T>C) c.386T>C c.671-434T>C (n.671-434T>C) c.*3848T>C (n.*3848T>C) c.359T>C c.788-434T>C (n.788-434T>C) c.410-434T>C (n.410-434T>C) c.413-434T>C (n.413-434T>C) c.5-27515T>C (n.5-27515T>C) c.-43-16945T>C (n.-43-16945T>C) c.-99+33805T>C (n.-99+33805T>C) n.4201T>C n.4242T>C | gnomAD v4 |
17 | g.43091466A>T | CA10593831 | BRCA1 | n.4129T>A c.4065T>A (p.Asn1355Lys) c.3939T>A (p.Asn1313Lys) c.4062T>A (p.Asn1354Lys) c.3987T>A (p.Asn1329Lys) c.785-434T>A (n.785-434T>A) c.647-434T>A (n.647-434T>A) c.3177T>A (p.Asn1059Lys) c.3942T>A (p.Asn1314Lys) c.3924T>A (p.Asn1308Lys) c.665-434T>A (n.665-434T>A) c.707-434T>A (n.707-434T>A) c.386T>A c.671-434T>A (n.671-434T>A) c.*3848T>A (n.*3848T>A) c.359T>A c.788-434T>A (n.788-434T>A) c.410-434T>A (n.410-434T>A) c.413-434T>A (n.413-434T>A) c.5-27515T>A (n.5-27515T>A) c.-43-16945T>A (n.-43-16945T>A) c.-99+33805T>A (n.-99+33805T>A) n.4201T>A n.4242T>A | |
17 | g.43091466_43091469del | CA002593 | BRCA1 | n.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 |
17 | g.43091466_43091470delinsATTAT | CA2260781950 | BRCA1 | n.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 | |
17 | g.43091469_43091471del | CA002595 | BRCA1 | n.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 | dbSNP gnomAD v2 gnomAD v4 |