| 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.43091514T>A | CA10593925 | BRCA1 | n.4081A>T c.4017A>T (p.Glu1339Asp) c.3891A>T (p.Glu1297Asp) c.4014A>T (p.Glu1338Asp) c.3939A>T (p.Glu1313Asp) c.785-482A>T (n.785-482A>T) c.647-482A>T (n.647-482A>T) c.3129A>T (p.Glu1043Asp) c.3894A>T (p.Glu1298Asp) c.3876A>T (p.Glu1292Asp) c.665-482A>T (n.665-482A>T) c.707-482A>T (n.707-482A>T) c.338A>T c.671-482A>T (n.671-482A>T) c.*3800A>T (n.*3800A>T) c.311A>T c.788-482A>T (n.788-482A>T) c.410-482A>T (n.410-482A>T) c.413-482A>T (n.413-482A>T) c.5-27563A>T (n.5-27563A>T) c.-43-16993A>T (n.-43-16993A>T) c.-99+33757A>T (n.-99+33757A>T) n.4153A>T n.4194A>T | dbSNP |
| 17 | g.43091514T>C | CA500232004 | BRCA1 | n.4081A>G c.4017A>G (p.Glu1339=) c.3891A>G (p.Glu1297=) c.4014A>G (p.Glu1338=) c.3939A>G (p.Glu1313=) c.785-482A>G (n.785-482A>G) c.647-482A>G (n.647-482A>G) c.3129A>G (p.Glu1043=) c.3894A>G (p.Glu1298=) c.3876A>G (p.Glu1292=) c.665-482A>G (n.665-482A>G) c.707-482A>G (n.707-482A>G) c.338A>G c.671-482A>G (n.671-482A>G) c.*3800A>G (n.*3800A>G) c.311A>G c.788-482A>G (n.788-482A>G) c.410-482A>G (n.410-482A>G) c.413-482A>G (n.413-482A>G) c.5-27563A>G (n.5-27563A>G) c.-43-16993A>G (n.-43-16993A>G) c.-99+33757A>G (n.-99+33757A>G) n.4153A>G n.4194A>G | ClinVar dbSNP |
| 17 | g.43091514T>G | CA10593926 | BRCA1 | n.4081A>C c.4017A>C (p.Glu1339Asp) c.3891A>C (p.Glu1297Asp) c.4014A>C (p.Glu1338Asp) c.3939A>C (p.Glu1313Asp) c.785-482A>C (n.785-482A>C) c.647-482A>C (n.647-482A>C) c.3129A>C (p.Glu1043Asp) c.3894A>C (p.Glu1298Asp) c.3876A>C (p.Glu1292Asp) c.665-482A>C (n.665-482A>C) c.707-482A>C (n.707-482A>C) c.338A>C c.671-482A>C (n.671-482A>C) c.*3800A>C (n.*3800A>C) c.311A>C c.788-482A>C (n.788-482A>C) c.410-482A>C (n.410-482A>C) c.413-482A>C (n.413-482A>C) c.5-27563A>C (n.5-27563A>C) c.-43-16993A>C (n.-43-16993A>C) c.-99+33757A>C (n.-99+33757A>C) n.4153A>C n.4194A>C | |
| 17 | g.43091514T= | CA2260781994 | BRCA1 | n.4081A= c.4017A= (p.Glu1339=) c.3891A= (p.Glu1297=) c.4014A= (p.Glu1338=) c.3939A= (p.Glu1313=) c.785-482A= (n.785-482A=) c.647-482A= (n.647-482A=) c.3129A= (p.Glu1043=) c.3894A= (p.Glu1298=) c.3876A= (p.Glu1292=) c.665-482A= (n.665-482A=) c.707-482A= (n.707-482A=) c.338A= c.671-482A= (n.671-482A=) c.*3800A= (n.*3800A=) c.311A= c.788-482A= (n.788-482A=) c.410-482A= (n.410-482A=) c.413-482A= (n.413-482A=) c.5-27563A= (n.5-27563A=) c.-43-16993A= (n.-43-16993A=) c.-99+33757A= (n.-99+33757A=) n.4153A= n.4194A= | |
| 17 | g.43091514_43091515insAA | CA10589703 | BRCA1 | n.4080_4081insTT c.4016_4017insTT (p.Glu1339AspfsTer28) c.3890_3891insTT (p.Glu1297AspfsTer28) c.4013_4014insTT (p.Glu1338AspfsTer28) c.3938_3939insTT (p.Glu1313AspfsTer28) c.785-483_785-482insTT (n.785-483_785-482insTT) c.647-483_647-482insTT (n.647-483_647-482insTT) c.3128_3129insTT (p.Glu1043AspfsTer28) c.3893_3894insTT (p.Glu1298AspfsTer28) c.3875_3876insTT (p.Glu1292AspfsTer28) c.665-483_665-482insTT (n.665-483_665-482insTT) c.707-483_707-482insTT (n.707-483_707-482insTT) c.337_338insTT c.671-483_671-482insTT (n.671-483_671-482insTT) c.*3799_*3800insTT (n.*3799_*3800insTT) c.310_311insTT c.788-483_788-482insTT (n.788-483_788-482insTT) c.410-483_410-482insTT (n.410-483_410-482insTT) c.413-483_413-482insTT (n.413-483_413-482insTT) c.5-27564_5-27563insTT (n.5-27564_5-27563insTT) c.-43-16994_-43-16993insTT (n.-43-16994_-43-16993insTT) c.-99+33756_-99+33757insTT (n.-99+33756_-99+33757insTT) n.4152_4153insTT n.4193_4194insTT | ClinVar dbSNP |
| 17 | g.43091515T>A | CA10593927 | BRCA1 | n.4080A>T c.4016A>T (p.Glu1339Val) c.3890A>T (p.Glu1297Val) c.4013A>T (p.Glu1338Val) c.3938A>T (p.Glu1313Val) c.785-483A>T (n.785-483A>T) c.647-483A>T (n.647-483A>T) c.3128A>T (p.Glu1043Val) c.3893A>T (p.Glu1298Val) c.3875A>T (p.Glu1292Val) c.665-483A>T (n.665-483A>T) c.707-483A>T (n.707-483A>T) c.337A>T c.671-483A>T (n.671-483A>T) c.*3799A>T (n.*3799A>T) c.310A>T c.788-483A>T (n.788-483A>T) c.410-483A>T (n.410-483A>T) c.413-483A>T (n.413-483A>T) c.5-27564A>T (n.5-27564A>T) c.-43-16994A>T (n.-43-16994A>T) c.-99+33756A>T (n.-99+33756A>T) n.4152A>T n.4193A>T | ClinVar dbSNP |
| 17 | g.43091515T>C | CA10588655 | BRCA1 | n.4080A>G c.4016A>G (p.Glu1339Gly) c.3890A>G (p.Glu1297Gly) c.4013A>G (p.Glu1338Gly) c.3938A>G (p.Glu1313Gly) c.785-483A>G (n.785-483A>G) c.647-483A>G (n.647-483A>G) c.3128A>G (p.Glu1043Gly) c.3893A>G (p.Glu1298Gly) c.3875A>G (p.Glu1292Gly) c.665-483A>G (n.665-483A>G) c.707-483A>G (n.707-483A>G) c.337A>G c.671-483A>G (n.671-483A>G) c.*3799A>G (n.*3799A>G) c.310A>G c.788-483A>G (n.788-483A>G) c.410-483A>G (n.410-483A>G) c.413-483A>G (n.413-483A>G) c.5-27564A>G (n.5-27564A>G) c.-43-16994A>G (n.-43-16994A>G) c.-99+33756A>G (n.-99+33756A>G) n.4152A>G n.4193A>G | ClinVar dbSNP |
| 17 | g.43091515T>G | CA10593928 | BRCA1 | n.4080A>C c.4016A>C (p.Glu1339Ala) c.3890A>C (p.Glu1297Ala) c.4013A>C (p.Glu1338Ala) c.3938A>C (p.Glu1313Ala) c.785-483A>C (n.785-483A>C) c.647-483A>C (n.647-483A>C) c.3128A>C (p.Glu1043Ala) c.3893A>C (p.Glu1298Ala) c.3875A>C (p.Glu1292Ala) c.665-483A>C (n.665-483A>C) c.707-483A>C (n.707-483A>C) c.337A>C c.671-483A>C (n.671-483A>C) c.*3799A>C (n.*3799A>C) c.310A>C c.788-483A>C (n.788-483A>C) c.410-483A>C (n.410-483A>C) c.413-483A>C (n.413-483A>C) c.5-27564A>C (n.5-27564A>C) c.-43-16994A>C (n.-43-16994A>C) c.-99+33756A>C (n.-99+33756A>C) n.4152A>C n.4193A>C | |
| 17 | g.43091515T= | CA2260781995 | BRCA1 | n.4080A= c.4016A= (p.Glu1339=) c.3890A= (p.Glu1297=) c.4013A= (p.Glu1338=) c.3938A= (p.Glu1313=) c.785-483A= (n.785-483A=) c.647-483A= (n.647-483A=) c.3128A= (p.Glu1043=) c.3893A= (p.Glu1298=) c.3875A= (p.Glu1292=) c.665-483A= (n.665-483A=) c.707-483A= (n.707-483A=) c.337A= c.671-483A= (n.671-483A=) c.*3799A= (n.*3799A=) c.310A= c.788-483A= (n.788-483A=) c.410-483A= (n.410-483A=) c.413-483A= (n.413-483A=) c.5-27564A= (n.5-27564A=) c.-43-16994A= (n.-43-16994A=) c.-99+33756A= (n.-99+33756A=) n.4152A= n.4193A= | |
| 17 | g.43091516C>A | CA002568 | BRCA1 | n.4079G>T c.4015G>T (p.Glu1339Ter) c.3889G>T (p.Glu1297Ter) c.4012G>T (p.Glu1338Ter) c.3937G>T (p.Glu1313Ter) c.785-484G>T (n.785-484G>T) c.647-484G>T (n.647-484G>T) c.3127G>T (p.Glu1043Ter) c.3892G>T (p.Glu1298Ter) c.3874G>T (p.Glu1292Ter) c.665-484G>T (n.665-484G>T) c.707-484G>T (n.707-484G>T) c.336G>T c.671-484G>T (n.671-484G>T) c.*3798G>T (n.*3798G>T) c.309G>T c.788-484G>T (n.788-484G>T) c.410-484G>T (n.410-484G>T) c.413-484G>T (n.413-484G>T) c.5-27565G>T (n.5-27565G>T) c.-43-16995G>T (n.-43-16995G>T) c.-99+33755G>T (n.-99+33755G>T) n.4151G>T n.4192G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.43091516C= | CA2260781996 | BRCA1 | n.4079G= c.4015G= (p.Glu1339=) c.3889G= (p.Glu1297=) c.4012G= (p.Glu1338=) c.3937G= (p.Glu1313=) c.785-484G= (n.785-484G=) c.647-484G= (n.647-484G=) c.3127G= (p.Glu1043=) c.3892G= (p.Glu1298=) c.3874G= (p.Glu1292=) c.665-484G= (n.665-484G=) c.707-484G= (n.707-484G=) c.336G= c.671-484G= (n.671-484G=) c.*3798G= (n.*3798G=) c.309G= c.788-484G= (n.788-484G=) c.410-484G= (n.410-484G=) c.413-484G= (n.413-484G=) c.5-27565G= (n.5-27565G=) c.-43-16995G= (n.-43-16995G=) c.-99+33755G= (n.-99+33755G=) n.4151G= n.4192G= | |
| 17 | g.43091516C>G | CA10593929 | BRCA1 | n.4079G>C c.4015G>C (p.Glu1339Gln) c.3889G>C (p.Glu1297Gln) c.4012G>C (p.Glu1338Gln) c.3937G>C (p.Glu1313Gln) c.785-484G>C (n.785-484G>C) c.647-484G>C (n.647-484G>C) c.3127G>C (p.Glu1043Gln) c.3892G>C (p.Glu1298Gln) c.3874G>C (p.Glu1292Gln) c.665-484G>C (n.665-484G>C) c.707-484G>C (n.707-484G>C) c.336G>C c.671-484G>C (n.671-484G>C) c.*3798G>C (n.*3798G>C) c.309G>C c.788-484G>C (n.788-484G>C) c.410-484G>C (n.410-484G>C) c.413-484G>C (n.413-484G>C) c.5-27565G>C (n.5-27565G>C) c.-43-16995G>C (n.-43-16995G>C) c.-99+33755G>C (n.-99+33755G>C) n.4151G>C n.4192G>C | |
| 17 | g.43091516C>T | CA002567 | BRCA1 | n.4079G>A c.4015G>A (p.Glu1339Lys) c.3889G>A (p.Glu1297Lys) c.4012G>A (p.Glu1338Lys) c.3937G>A (p.Glu1313Lys) c.785-484G>A (n.785-484G>A) c.647-484G>A (n.647-484G>A) c.3127G>A (p.Glu1043Lys) c.3892G>A (p.Glu1298Lys) c.3874G>A (p.Glu1292Lys) c.665-484G>A (n.665-484G>A) c.707-484G>A (n.707-484G>A) c.336G>A c.671-484G>A (n.671-484G>A) c.*3798G>A (n.*3798G>A) c.309G>A c.788-484G>A (n.788-484G>A) c.410-484G>A (n.410-484G>A) c.413-484G>A (n.413-484G>A) c.5-27565G>A (n.5-27565G>A) c.-43-16995G>A (n.-43-16995G>A) c.-99+33755G>A (n.-99+33755G>A) n.4151G>A n.4192G>A | ClinVar dbSNP gnomAD v4 |
| 17 | g.43091517dup | CA10586613 | BRCA1 | n.4079dup c.4015dup (p.Glu1339GlyfsTer6) c.3889dup (p.Glu1297GlyfsTer6) c.4012dup (p.Glu1338GlyfsTer6) c.3937dup (p.Glu1313GlyfsTer6) c.785-484dup (n.785-484dup) c.647-484dup (n.647-484dup) c.3127dup (p.Glu1043GlyfsTer6) c.3892dup (p.Glu1298GlyfsTer6) c.3874dup (p.Glu1292GlyfsTer6) c.665-484dup (n.665-484dup) c.707-484dup (n.707-484dup) c.336dup c.671-484dup (n.671-484dup) c.*3798dup (n.*3798dup) c.309dup c.788-484dup (n.788-484dup) c.410-484dup (n.410-484dup) c.413-484dup (n.413-484dup) c.5-27565dup (n.5-27565dup) c.-43-16995dup (n.-43-16995dup) c.-99+33755dup (n.-99+33755dup) n.4151dup n.4192dup | ClinVar dbSNP |
| 17 | g.43091517C>A | CA10593930 | BRCA1 | n.4078G>T c.4014G>T (p.Lys1338Asn) c.3888G>T (p.Lys1296Asn) c.4011G>T (p.Lys1337Asn) c.3936G>T (p.Lys1312Asn) c.785-485G>T (n.785-485G>T) c.647-485G>T (n.647-485G>T) c.3126G>T (p.Lys1042Asn) c.3891G>T (p.Lys1297Asn) c.3873G>T (p.Lys1291Asn) c.665-485G>T (n.665-485G>T) c.707-485G>T (n.707-485G>T) c.335G>T c.671-485G>T (n.671-485G>T) c.*3797G>T (n.*3797G>T) c.308G>T c.788-485G>T (n.788-485G>T) c.410-485G>T (n.410-485G>T) c.413-485G>T (n.413-485G>T) c.5-27566G>T (n.5-27566G>T) c.-43-16996G>T (n.-43-16996G>T) c.-99+33754G>T (n.-99+33754G>T) n.4150G>T n.4191G>T | dbSNP |
| 17 | g.43091517C= | CA2260781998 | BRCA1 | n.4078G= c.4014G= (p.Lys1338=) c.3888G= (p.Lys1296=) c.4011G= (p.Lys1337=) c.3936G= (p.Lys1312=) c.785-485G= (n.785-485G=) c.647-485G= (n.647-485G=) c.3126G= (p.Lys1042=) c.3891G= (p.Lys1297=) c.3873G= (p.Lys1291=) c.665-485G= (n.665-485G=) c.707-485G= (n.707-485G=) c.335G= c.671-485G= (n.671-485G=) c.*3797G= (n.*3797G=) c.308G= c.788-485G= (n.788-485G=) c.410-485G= (n.410-485G=) c.413-485G= (n.413-485G=) c.5-27566G= (n.5-27566G=) c.-43-16996G= (n.-43-16996G=) c.-99+33754G= (n.-99+33754G=) n.4150G= n.4191G= | |
| 17 | g.43091517C>G | CA10593931 | BRCA1 | n.4078G>C c.4014G>C (p.Lys1338Asn) c.3888G>C (p.Lys1296Asn) c.4011G>C (p.Lys1337Asn) c.3936G>C (p.Lys1312Asn) c.785-485G>C (n.785-485G>C) c.647-485G>C (n.647-485G>C) c.3126G>C (p.Lys1042Asn) c.3891G>C (p.Lys1297Asn) c.3873G>C (p.Lys1291Asn) c.665-485G>C (n.665-485G>C) c.707-485G>C (n.707-485G>C) c.335G>C c.671-485G>C (n.671-485G>C) c.*3797G>C (n.*3797G>C) c.308G>C c.788-485G>C (n.788-485G>C) c.410-485G>C (n.410-485G>C) c.413-485G>C (n.413-485G>C) c.5-27566G>C (n.5-27566G>C) c.-43-16996G>C (n.-43-16996G>C) c.-99+33754G>C (n.-99+33754G>C) n.4150G>C n.4191G>C | dbSNP |
| 17 | g.43091517C>T | CA500232005 | BRCA1 | n.4078G>A c.4014G>A (p.Lys1338=) c.3888G>A (p.Lys1296=) c.4011G>A (p.Lys1337=) c.3936G>A (p.Lys1312=) c.785-485G>A (n.785-485G>A) c.647-485G>A (n.647-485G>A) c.3126G>A (p.Lys1042=) c.3891G>A (p.Lys1297=) c.3873G>A (p.Lys1291=) c.665-485G>A (n.665-485G>A) c.707-485G>A (n.707-485G>A) c.335G>A c.671-485G>A (n.671-485G>A) c.*3797G>A (n.*3797G>A) c.308G>A c.788-485G>A (n.788-485G>A) c.410-485G>A (n.410-485G>A) c.413-485G>A (n.413-485G>A) c.5-27566G>A (n.5-27566G>A) c.-43-16996G>A (n.-43-16996G>A) c.-99+33754G>A (n.-99+33754G>A) n.4150G>A n.4191G>A | ClinVar dbSNP |
| 17 | g.43091517_43091518delinsCT | CA2260781997 | BRCA1 | n.4077_4078delinsAG c.4013_4014delinsAG (p.Lys1338=) c.3887_3888delinsAG (p.Lys1296=) c.4010_4011delinsAG (p.Lys1337=) c.3935_3936delinsAG (p.Lys1312=) c.785-486_785-485delinsAG (n.785-486_785-485delinsAG) c.647-486_647-485delinsAG (n.647-486_647-485delinsAG) c.3125_3126delinsAG (p.Lys1042=) c.3890_3891delinsAG (p.Lys1297=) c.3872_3873delinsAG (p.Lys1291=) c.665-486_665-485delinsAG (n.665-486_665-485delinsAG) c.707-486_707-485delinsAG (n.707-486_707-485delinsAG) c.334_335delinsAG c.671-486_671-485delinsAG (n.671-486_671-485delinsAG) c.*3796_*3797delinsAG (n.*3796_*3797delinsAG) c.307_308delinsAG c.788-486_788-485delinsAG (n.788-486_788-485delinsAG) c.410-486_410-485delinsAG (n.410-486_410-485delinsAG) c.413-486_413-485delinsAG (n.413-486_413-485delinsAG) c.5-27567_5-27566delinsAG (n.5-27567_5-27566delinsAG) c.-43-16997_-43-16996delinsAG (n.-43-16997_-43-16996delinsAG) c.-99+33753_-99+33754delinsAG (n.-99+33753_-99+33754delinsAG) n.4149_4150delinsAG n.4190_4191delinsAG | |
| 17 | g.43091518T>A | CA10593932 | BRCA1 | n.4077A>T c.4013A>T (p.Lys1338Met) c.3887A>T (p.Lys1296Met) c.4010A>T (p.Lys1337Met) c.3935A>T (p.Lys1312Met) c.785-486A>T (n.785-486A>T) c.647-486A>T (n.647-486A>T) c.3125A>T (p.Lys1042Met) c.3890A>T (p.Lys1297Met) c.3872A>T (p.Lys1291Met) c.665-486A>T (n.665-486A>T) c.707-486A>T (n.707-486A>T) c.334A>T c.671-486A>T (n.671-486A>T) c.*3796A>T (n.*3796A>T) c.307A>T c.788-486A>T (n.788-486A>T) c.410-486A>T (n.410-486A>T) c.413-486A>T (n.413-486A>T) c.5-27567A>T (n.5-27567A>T) c.-43-16997A>T (n.-43-16997A>T) c.-99+33753A>T (n.-99+33753A>T) n.4149A>T n.4190A>T | dbSNP |
| 17 | g.43091518T>C | CA10593933 | BRCA1 | n.4077A>G c.4013A>G (p.Lys1338Arg) c.3887A>G (p.Lys1296Arg) c.4010A>G (p.Lys1337Arg) c.3935A>G (p.Lys1312Arg) c.785-486A>G (n.785-486A>G) c.647-486A>G (n.647-486A>G) c.3125A>G (p.Lys1042Arg) c.3890A>G (p.Lys1297Arg) c.3872A>G (p.Lys1291Arg) c.665-486A>G (n.665-486A>G) c.707-486A>G (n.707-486A>G) c.334A>G c.671-486A>G (n.671-486A>G) c.*3796A>G (n.*3796A>G) c.307A>G c.788-486A>G (n.788-486A>G) c.410-486A>G (n.410-486A>G) c.413-486A>G (n.413-486A>G) c.5-27567A>G (n.5-27567A>G) c.-43-16997A>G (n.-43-16997A>G) c.-99+33753A>G (n.-99+33753A>G) n.4149A>G n.4190A>G | ClinVar dbSNP |
| 17 | g.43091518T>G | CA10593934 | BRCA1 | n.4077A>C c.4013A>C (p.Lys1338Thr) c.3887A>C (p.Lys1296Thr) c.4010A>C (p.Lys1337Thr) c.3935A>C (p.Lys1312Thr) c.785-486A>C (n.785-486A>C) c.647-486A>C (n.647-486A>C) c.3125A>C (p.Lys1042Thr) c.3890A>C (p.Lys1297Thr) c.3872A>C (p.Lys1291Thr) c.665-486A>C (n.665-486A>C) c.707-486A>C (n.707-486A>C) c.334A>C c.671-486A>C (n.671-486A>C) c.*3796A>C (n.*3796A>C) c.307A>C c.788-486A>C (n.788-486A>C) c.410-486A>C (n.410-486A>C) c.413-486A>C (n.413-486A>C) c.5-27567A>C (n.5-27567A>C) c.-43-16997A>C (n.-43-16997A>C) c.-99+33753A>C (n.-99+33753A>C) n.4149A>C n.4190A>C | |
| 17 | g.43091518T= | CA2260781999 | BRCA1 | n.4077A= c.4013A= (p.Lys1338=) c.3887A= (p.Lys1296=) c.4010A= (p.Lys1337=) c.3935A= (p.Lys1312=) c.785-486A= (n.785-486A=) c.647-486A= (n.647-486A=) c.3125A= (p.Lys1042=) c.3890A= (p.Lys1297=) c.3872A= (p.Lys1291=) c.665-486A= (n.665-486A=) c.707-486A= (n.707-486A=) c.334A= c.671-486A= (n.671-486A=) c.*3796A= (n.*3796A=) c.307A= c.788-486A= (n.788-486A=) c.410-486A= (n.410-486A=) c.413-486A= (n.413-486A=) c.5-27567A= (n.5-27567A=) c.-43-16997A= (n.-43-16997A=) c.-99+33753A= (n.-99+33753A=) n.4149A= n.4190A= | |
| 17 | g.43091519del | CA10586614 | BRCA1 | n.4077del c.4013del (p.Lys1338ArgfsTer28) c.3887del (p.Lys1296ArgfsTer28) c.4010del (p.Lys1337ArgfsTer28) c.3935del (p.Lys1312ArgfsTer28) c.785-486del (n.785-486del) c.647-486del (n.647-486del) c.3125del (p.Lys1042ArgfsTer28) c.3890del (p.Lys1297ArgfsTer28) c.3872del (p.Lys1291ArgfsTer28) c.665-486del (n.665-486del) c.707-486del (n.707-486del) c.334del c.671-486del (n.671-486del) c.*3796del (n.*3796del) c.307del c.788-486del (n.788-486del) c.410-486del (n.410-486del) c.413-486del (n.413-486del) c.5-27567del (n.5-27567del) c.-43-16997del (n.-43-16997del) c.-99+33753del (n.-99+33753del) n.4149del n.4190del | ClinVar dbSNP |
| 17 | g.43091519T>A | CA10593935 | BRCA1 | n.4076A>T c.4012A>T (p.Lys1338Ter) c.3886A>T (p.Lys1296Ter) c.4009A>T (p.Lys1337Ter) c.3934A>T (p.Lys1312Ter) c.785-487A>T (n.785-487A>T) c.647-487A>T (n.647-487A>T) c.3124A>T (p.Lys1042Ter) c.3889A>T (p.Lys1297Ter) c.3871A>T (p.Lys1291Ter) c.665-487A>T (n.665-487A>T) c.707-487A>T (n.707-487A>T) c.333A>T c.671-487A>T (n.671-487A>T) c.*3795A>T (n.*3795A>T) c.306A>T c.788-487A>T (n.788-487A>T) c.410-487A>T (n.410-487A>T) c.413-487A>T (n.413-487A>T) c.5-27568A>T (n.5-27568A>T) c.-43-16998A>T (n.-43-16998A>T) c.-99+33752A>T (n.-99+33752A>T) n.4148A>T n.4189A>T | ClinVar dbSNP |
| 17 | g.43091519T>C | CA10593936 | BRCA1 | n.4076A>G c.4012A>G (p.Lys1338Glu) c.3886A>G (p.Lys1296Glu) c.4009A>G (p.Lys1337Glu) c.3934A>G (p.Lys1312Glu) c.785-487A>G (n.785-487A>G) c.647-487A>G (n.647-487A>G) c.3124A>G (p.Lys1042Glu) c.3889A>G (p.Lys1297Glu) c.3871A>G (p.Lys1291Glu) c.665-487A>G (n.665-487A>G) c.707-487A>G (n.707-487A>G) c.333A>G c.671-487A>G (n.671-487A>G) c.*3795A>G (n.*3795A>G) c.306A>G c.788-487A>G (n.788-487A>G) c.410-487A>G (n.410-487A>G) c.413-487A>G (n.413-487A>G) c.5-27568A>G (n.5-27568A>G) c.-43-16998A>G (n.-43-16998A>G) c.-99+33752A>G (n.-99+33752A>G) n.4148A>G n.4189A>G | dbSNP |
| 17 | g.43091519T>G | CA10593937 | BRCA1 | n.4076A>C c.4012A>C (p.Lys1338Gln) c.3886A>C (p.Lys1296Gln) c.4009A>C (p.Lys1337Gln) c.3934A>C (p.Lys1312Gln) c.785-487A>C (n.785-487A>C) c.647-487A>C (n.647-487A>C) c.3124A>C (p.Lys1042Gln) c.3889A>C (p.Lys1297Gln) c.3871A>C (p.Lys1291Gln) c.665-487A>C (n.665-487A>C) c.707-487A>C (n.707-487A>C) c.333A>C c.671-487A>C (n.671-487A>C) c.*3795A>C (n.*3795A>C) c.306A>C c.788-487A>C (n.788-487A>C) c.410-487A>C (n.410-487A>C) c.413-487A>C (n.413-487A>C) c.5-27568A>C (n.5-27568A>C) c.-43-16998A>C (n.-43-16998A>C) c.-99+33752A>C (n.-99+33752A>C) n.4148A>C n.4189A>C | dbSNP |
| 17 | g.43091519T= | CA2260782000 | BRCA1 | n.4076A= c.4012A= (p.Lys1338=) c.3886A= (p.Lys1296=) c.4009A= (p.Lys1337=) c.3934A= (p.Lys1312=) c.785-487A= (n.785-487A=) c.647-487A= (n.647-487A=) c.3124A= (p.Lys1042=) c.3889A= (p.Lys1297=) c.3871A= (p.Lys1291=) c.665-487A= (n.665-487A=) c.707-487A= (n.707-487A=) c.333A= c.671-487A= (n.671-487A=) c.*3795A= (n.*3795A=) c.306A= c.788-487A= (n.788-487A=) c.410-487A= (n.410-487A=) c.413-487A= (n.413-487A=) c.5-27568A= (n.5-27568A=) c.-43-16998A= (n.-43-16998A=) c.-99+33752A= (n.-99+33752A=) n.4148A= n.4189A= | |
| 17 | g.43091520G>A | CA500232006 | BRCA1 | n.4075C>T c.4011C>T (p.Asp1337=) c.3885C>T (p.Asp1295=) c.4008C>T (p.Asp1336=) c.3933C>T (p.Asp1311=) c.785-488C>T (n.785-488C>T) c.647-488C>T (n.647-488C>T) c.3123C>T (p.Asp1041=) c.3888C>T (p.Asp1296=) c.3870C>T (p.Asp1290=) c.665-488C>T (n.665-488C>T) c.707-488C>T (n.707-488C>T) c.332C>T c.671-488C>T (n.671-488C>T) c.*3794C>T (n.*3794C>T) c.305C>T c.788-488C>T (n.788-488C>T) c.410-488C>T (n.410-488C>T) c.413-488C>T (n.413-488C>T) c.5-27569C>T (n.5-27569C>T) c.-43-16999C>T (n.-43-16999C>T) c.-99+33751C>T (n.-99+33751C>T) n.4147C>T n.4188C>T | ClinVar dbSNP gnomAD v4 |
| 17 | g.43091520G>C | CA002566 | BRCA1 | n.4075C>G c.4011C>G (p.Asp1337Glu) c.3885C>G (p.Asp1295Glu) c.4008C>G (p.Asp1336Glu) c.3933C>G (p.Asp1311Glu) c.785-488C>G (n.785-488C>G) c.647-488C>G (n.647-488C>G) c.3123C>G (p.Asp1041Glu) c.3888C>G (p.Asp1296Glu) c.3870C>G (p.Asp1290Glu) c.665-488C>G (n.665-488C>G) c.707-488C>G (n.707-488C>G) c.332C>G c.671-488C>G (n.671-488C>G) c.*3794C>G (n.*3794C>G) c.305C>G c.788-488C>G (n.788-488C>G) c.410-488C>G (n.410-488C>G) c.413-488C>G (n.413-488C>G) c.5-27569C>G (n.5-27569C>G) c.-43-16999C>G (n.-43-16999C>G) c.-99+33751C>G (n.-99+33751C>G) n.4147C>G n.4188C>G | ClinVar dbSNP |
| 17 | g.43091520G= | CA2260782001 | BRCA1 | n.4075C= c.4011C= (p.Asp1337=) c.3885C= (p.Asp1295=) c.4008C= (p.Asp1336=) c.3933C= (p.Asp1311=) c.785-488C= (n.785-488C=) c.647-488C= (n.647-488C=) c.3123C= (p.Asp1041=) c.3888C= (p.Asp1296=) c.3870C= (p.Asp1290=) c.665-488C= (n.665-488C=) c.707-488C= (n.707-488C=) c.332C= c.671-488C= (n.671-488C=) c.*3794C= (n.*3794C=) c.305C= c.788-488C= (n.788-488C=) c.410-488C= (n.410-488C=) c.413-488C= (n.413-488C=) c.5-27569C= (n.5-27569C=) c.-43-16999C= (n.-43-16999C=) c.-99+33751C= (n.-99+33751C=) n.4147C= n.4188C= | |
| 17 | g.43091520G>T | CA10593938 | BRCA1 | n.4075C>A c.4011C>A (p.Asp1337Glu) c.3885C>A (p.Asp1295Glu) c.4008C>A (p.Asp1336Glu) c.3933C>A (p.Asp1311Glu) c.785-488C>A (n.785-488C>A) c.647-488C>A (n.647-488C>A) c.3123C>A (p.Asp1041Glu) c.3888C>A (p.Asp1296Glu) c.3870C>A (p.Asp1290Glu) c.665-488C>A (n.665-488C>A) c.707-488C>A (n.707-488C>A) c.332C>A c.671-488C>A (n.671-488C>A) c.*3794C>A (n.*3794C>A) c.305C>A c.788-488C>A (n.788-488C>A) c.410-488C>A (n.410-488C>A) c.413-488C>A (n.413-488C>A) c.5-27569C>A (n.5-27569C>A) c.-43-16999C>A (n.-43-16999C>A) c.-99+33751C>A (n.-99+33751C>A) n.4147C>A n.4188C>A | |
| 17 | g.43091521T>A | CA10593939 | BRCA1 | n.4074A>T c.4010A>T (p.Asp1337Val) c.3884A>T (p.Asp1295Val) c.4007A>T (p.Asp1336Val) c.3932A>T (p.Asp1311Val) c.785-489A>T (n.785-489A>T) c.647-489A>T (n.647-489A>T) c.3122A>T (p.Asp1041Val) c.3887A>T (p.Asp1296Val) c.3869A>T (p.Asp1290Val) c.665-489A>T (n.665-489A>T) c.707-489A>T (n.707-489A>T) c.331A>T c.671-489A>T (n.671-489A>T) c.*3793A>T (n.*3793A>T) c.304A>T c.788-489A>T (n.788-489A>T) c.410-489A>T (n.410-489A>T) c.413-489A>T (n.413-489A>T) c.5-27570A>T (n.5-27570A>T) c.-43-17000A>T (n.-43-17000A>T) c.-99+33750A>T (n.-99+33750A>T) n.4146A>T n.4187A>T | dbSNP |
| 17 | g.43091521T>C | CA10593940 | BRCA1 | n.4074A>G c.4010A>G (p.Asp1337Gly) c.3884A>G (p.Asp1295Gly) c.4007A>G (p.Asp1336Gly) c.3932A>G (p.Asp1311Gly) c.785-489A>G (n.785-489A>G) c.647-489A>G (n.647-489A>G) c.3122A>G (p.Asp1041Gly) c.3887A>G (p.Asp1296Gly) c.3869A>G (p.Asp1290Gly) c.665-489A>G (n.665-489A>G) c.707-489A>G (n.707-489A>G) c.331A>G c.671-489A>G (n.671-489A>G) c.*3793A>G (n.*3793A>G) c.304A>G c.788-489A>G (n.788-489A>G) c.410-489A>G (n.410-489A>G) c.413-489A>G (n.413-489A>G) c.5-27570A>G (n.5-27570A>G) c.-43-17000A>G (n.-43-17000A>G) c.-99+33750A>G (n.-99+33750A>G) n.4146A>G n.4187A>G | dbSNP |
| 17 | g.43091521T>G | CA10593941 | BRCA1 | n.4074A>C c.4010A>C (p.Asp1337Ala) c.3884A>C (p.Asp1295Ala) c.4007A>C (p.Asp1336Ala) c.3932A>C (p.Asp1311Ala) c.785-489A>C (n.785-489A>C) c.647-489A>C (n.647-489A>C) c.3122A>C (p.Asp1041Ala) c.3887A>C (p.Asp1296Ala) c.3869A>C (p.Asp1290Ala) c.665-489A>C (n.665-489A>C) c.707-489A>C (n.707-489A>C) c.331A>C c.671-489A>C (n.671-489A>C) c.*3793A>C (n.*3793A>C) c.304A>C c.788-489A>C (n.788-489A>C) c.410-489A>C (n.410-489A>C) c.413-489A>C (n.413-489A>C) c.5-27570A>C (n.5-27570A>C) c.-43-17000A>C (n.-43-17000A>C) c.-99+33750A>C (n.-99+33750A>C) n.4146A>C n.4187A>C | dbSNP |
| 17 | g.43091522C>A | CA10593942 | BRCA1 | n.4073G>T c.4009G>T (p.Asp1337Tyr) c.3883G>T (p.Asp1295Tyr) c.4006G>T (p.Asp1336Tyr) c.3931G>T (p.Asp1311Tyr) c.785-490G>T (n.785-490G>T) c.647-490G>T (n.647-490G>T) c.3121G>T (p.Asp1041Tyr) c.3886G>T (p.Asp1296Tyr) c.3868G>T (p.Asp1290Tyr) c.665-490G>T (n.665-490G>T) c.707-490G>T (n.707-490G>T) c.330G>T c.671-490G>T (n.671-490G>T) c.*3792G>T (n.*3792G>T) c.303G>T c.788-490G>T (n.788-490G>T) c.410-490G>T (n.410-490G>T) c.413-490G>T (n.413-490G>T) c.5-27571G>T (n.5-27571G>T) c.-43-17001G>T (n.-43-17001G>T) c.-99+33749G>T (n.-99+33749G>T) n.4145G>T n.4186G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.43091522C= | CA2260782003 | BRCA1 | n.4073G= c.4009G= (p.Asp1337=) c.3883G= (p.Asp1295=) c.4006G= (p.Asp1336=) c.3931G= (p.Asp1311=) c.785-490G= (n.785-490G=) c.647-490G= (n.647-490G=) c.3121G= (p.Asp1041=) c.3886G= (p.Asp1296=) c.3868G= (p.Asp1290=) c.665-490G= (n.665-490G=) c.707-490G= (n.707-490G=) c.330G= c.671-490G= (n.671-490G=) c.*3792G= (n.*3792G=) c.303G= c.788-490G= (n.788-490G=) c.410-490G= (n.410-490G=) c.413-490G= (n.413-490G=) c.5-27571G= (n.5-27571G=) c.-43-17001G= (n.-43-17001G=) c.-99+33749G= (n.-99+33749G=) n.4145G= n.4186G= | |
| 17 | g.43091522C>G | CA10593943 | BRCA1 | n.4073G>C c.4009G>C (p.Asp1337His) c.3883G>C (p.Asp1295His) c.4006G>C (p.Asp1336His) c.3931G>C (p.Asp1311His) c.785-490G>C (n.785-490G>C) c.647-490G>C (n.647-490G>C) c.3121G>C (p.Asp1041His) c.3886G>C (p.Asp1296His) c.3868G>C (p.Asp1290His) c.665-490G>C (n.665-490G>C) c.707-490G>C (n.707-490G>C) c.330G>C c.671-490G>C (n.671-490G>C) c.*3792G>C (n.*3792G>C) c.303G>C c.788-490G>C (n.788-490G>C) c.410-490G>C (n.410-490G>C) c.413-490G>C (n.413-490G>C) c.5-27571G>C (n.5-27571G>C) c.-43-17001G>C (n.-43-17001G>C) c.-99+33749G>C (n.-99+33749G>C) n.4145G>C n.4186G>C | ClinVar dbSNP |
| 17 | g.43091522C>T | CA10593944 | BRCA1 | n.4073G>A c.4009G>A (p.Asp1337Asn) c.3883G>A (p.Asp1295Asn) c.4006G>A (p.Asp1336Asn) c.3931G>A (p.Asp1311Asn) c.785-490G>A (n.785-490G>A) c.647-490G>A (n.647-490G>A) c.3121G>A (p.Asp1041Asn) c.3886G>A (p.Asp1296Asn) c.3868G>A (p.Asp1290Asn) c.665-490G>A (n.665-490G>A) c.707-490G>A (n.707-490G>A) c.330G>A c.671-490G>A (n.671-490G>A) c.*3792G>A (n.*3792G>A) c.303G>A c.788-490G>A (n.788-490G>A) c.410-490G>A (n.410-490G>A) c.413-490G>A (n.413-490G>A) c.5-27571G>A (n.5-27571G>A) c.-43-17001G>A (n.-43-17001G>A) c.-99+33749G>A (n.-99+33749G>A) n.4145G>A n.4186G>A | dbSNP |
| 17 | g.43091522_43091532delinsCACTCAGACCA | CA2260782002 | BRCA1 | n.4063_4073delinsTGGTCTGAGTG c.3999_4009delinsTGGTCTGAGTG (p.Val1333=) c.3873_3883delinsTGGTCTGAGTG (p.Val1291=) c.3996_4006delinsTGGTCTGAGTG (p.Val1332=) c.3921_3931delinsTGGTCTGAGTG (p.Val1307=) c.785-500_785-490delinsTGGTCTGAGTG (n.785-500_785-490delinsTGGTCTGAGTG) c.647-500_647-490delinsTGGTCTGAGTG (n.647-500_647-490delinsTGGTCTGAGTG) c.3111_3121delinsTGGTCTGAGTG (p.Val1037=) c.3876_3886delinsTGGTCTGAGTG (p.Val1292=) c.3858_3868delinsTGGTCTGAGTG (p.Val1286=) c.665-500_665-490delinsTGGTCTGAGTG (n.665-500_665-490delinsTGGTCTGAGTG) c.707-500_707-490delinsTGGTCTGAGTG (n.707-500_707-490delinsTGGTCTGAGTG) c.320_330delinsTGGTCTGAGTG c.671-500_671-490delinsTGGTCTGAGTG (n.671-500_671-490delinsTGGTCTGAGTG) c.*3782_*3792delinsTGGTCTGAGTG (n.*3782_*3792delinsTGGTCTGAGTG) c.293_303delinsTGGTCTGAGTG c.788-500_788-490delinsTGGTCTGAGTG (n.788-500_788-490delinsTGGTCTGAGTG) c.410-500_410-490delinsTGGTCTGAGTG (n.410-500_410-490delinsTGGTCTGAGTG) c.413-500_413-490delinsTGGTCTGAGTG (n.413-500_413-490delinsTGGTCTGAGTG) c.5-27581_5-27571delinsTGGTCTGAGTG (n.5-27581_5-27571delinsTGGTCTGAGTG) c.-43-17011_-43-17001delinsTGGTCTGAGTG (n.-43-17011_-43-17001delinsTGGTCTGAGTG) c.-99+33739_-99+33749delinsTGGTCTGAGTG (n.-99+33739_-99+33749delinsTGGTCTGAGTG) n.4135_4145delinsTGGTCTGAGTG n.4176_4186delinsTGGTCTGAGTG | |
| 17 | g.43091523A>C | CA10593945 | BRCA1 | n.4072T>G c.4008T>G (p.Ser1336Arg) c.3882T>G (p.Ser1294Arg) c.4005T>G (p.Ser1335Arg) c.3930T>G (p.Ser1310Arg) c.785-491T>G (n.785-491T>G) c.647-491T>G (n.647-491T>G) c.3120T>G (p.Ser1040Arg) c.3885T>G (p.Ser1295Arg) c.3867T>G (p.Ser1289Arg) c.665-491T>G (n.665-491T>G) c.707-491T>G (n.707-491T>G) c.329T>G c.671-491T>G (n.671-491T>G) c.*3791T>G (n.*3791T>G) c.302T>G c.788-491T>G (n.788-491T>G) c.410-491T>G (n.410-491T>G) c.413-491T>G (n.413-491T>G) c.5-27572T>G (n.5-27572T>G) c.-43-17002T>G (n.-43-17002T>G) c.-99+33748T>G (n.-99+33748T>G) n.4144T>G n.4185T>G | dbSNP |