| 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.43091487_43091488delinsTC | CA2260781967 | BRCA1 | n.4107_4108delinsGA c.4043_4044delinsGA (p.Gly1348=) c.3917_3918delinsGA (p.Gly1306=) c.4040_4041delinsGA (p.Gly1347=) c.3965_3966delinsGA (p.Gly1322=) c.785-456_785-455delinsGA (n.785-456_785-455delinsGA) c.647-456_647-455delinsGA (n.647-456_647-455delinsGA) c.3155_3156delinsGA (p.Gly1052=) c.3920_3921delinsGA (p.Gly1307=) c.3902_3903delinsGA (p.Gly1301=) c.665-456_665-455delinsGA (n.665-456_665-455delinsGA) c.707-456_707-455delinsGA (n.707-456_707-455delinsGA) c.364_365delinsGA c.671-456_671-455delinsGA (n.671-456_671-455delinsGA) c.*3826_*3827delinsGA (n.*3826_*3827delinsGA) c.337_338delinsGA c.788-456_788-455delinsGA (n.788-456_788-455delinsGA) c.410-456_410-455delinsGA (n.410-456_410-455delinsGA) c.413-456_413-455delinsGA (n.413-456_413-455delinsGA) c.5-27537_5-27536delinsGA (n.5-27537_5-27536delinsGA) c.-43-16967_-43-16966delinsGA (n.-43-16967_-43-16966delinsGA) c.-99+33783_-99+33784delinsGA (n.-99+33783_-99+33784delinsGA) n.4179_4180delinsGA n.4220_4221delinsGA | |
| 17 | g.43091488C>A | CA10593871 | BRCA1 | n.4107G>T c.4043G>T (p.Gly1348Val) c.3917G>T (p.Gly1306Val) c.4040G>T (p.Gly1347Val) c.3965G>T (p.Gly1322Val) c.785-456G>T (n.785-456G>T) c.647-456G>T (n.647-456G>T) c.3155G>T (p.Gly1052Val) c.3920G>T (p.Gly1307Val) c.3902G>T (p.Gly1301Val) c.665-456G>T (n.665-456G>T) c.707-456G>T (n.707-456G>T) c.364G>T c.671-456G>T (n.671-456G>T) c.*3826G>T (n.*3826G>T) c.337G>T c.788-456G>T (n.788-456G>T) c.410-456G>T (n.410-456G>T) c.413-456G>T (n.413-456G>T) c.5-27537G>T (n.5-27537G>T) c.-43-16967G>T (n.-43-16967G>T) c.-99+33783G>T (n.-99+33783G>T) n.4179G>T n.4220G>T | ClinVar |
| 17 | g.43091488C>G | CA10593872 | BRCA1 | n.4107G>C c.4043G>C (p.Gly1348Ala) c.3917G>C (p.Gly1306Ala) c.4040G>C (p.Gly1347Ala) c.3965G>C (p.Gly1322Ala) c.785-456G>C (n.785-456G>C) c.647-456G>C (n.647-456G>C) c.3155G>C (p.Gly1052Ala) c.3920G>C (p.Gly1307Ala) c.3902G>C (p.Gly1301Ala) c.665-456G>C (n.665-456G>C) c.707-456G>C (n.707-456G>C) c.364G>C c.671-456G>C (n.671-456G>C) c.*3826G>C (n.*3826G>C) c.337G>C c.788-456G>C (n.788-456G>C) c.410-456G>C (n.410-456G>C) c.413-456G>C (n.413-456G>C) c.5-27537G>C (n.5-27537G>C) c.-43-16967G>C (n.-43-16967G>C) c.-99+33783G>C (n.-99+33783G>C) n.4179G>C n.4220G>C | |
| 17 | g.43091488C>T | CA10593873 | BRCA1 | n.4107G>A c.4043G>A (p.Gly1348Glu) c.3917G>A (p.Gly1306Glu) c.4040G>A (p.Gly1347Glu) c.3965G>A (p.Gly1322Glu) c.785-456G>A (n.785-456G>A) c.647-456G>A (n.647-456G>A) c.3155G>A (p.Gly1052Glu) c.3920G>A (p.Gly1307Glu) c.3902G>A (p.Gly1301Glu) c.665-456G>A (n.665-456G>A) c.707-456G>A (n.707-456G>A) c.364G>A c.671-456G>A (n.671-456G>A) c.*3826G>A (n.*3826G>A) c.337G>A c.788-456G>A (n.788-456G>A) c.410-456G>A (n.410-456G>A) c.413-456G>A (n.413-456G>A) c.5-27537G>A (n.5-27537G>A) c.-43-16967G>A (n.-43-16967G>A) c.-99+33783G>A (n.-99+33783G>A) n.4179G>A n.4220G>A | |
| 17 | g.43091489del | CA002582 | BRCA1 | n.4107del c.4043del (p.Gly1348GlufsTer18) c.3917del (p.Gly1306GlufsTer18) c.4040del (p.Gly1347GlufsTer18) c.3965del (p.Gly1322GlufsTer18) c.785-456del (n.785-456del) c.647-456del (n.647-456del) c.3155del (p.Gly1052GlufsTer18) c.3920del (p.Gly1307GlufsTer18) c.3902del (p.Gly1301GlufsTer18) c.665-456del (n.665-456del) c.707-456del (n.707-456del) c.364del c.671-456del (n.671-456del) c.*3826del (n.*3826del) c.337del c.788-456del (n.788-456del) c.410-456del (n.410-456del) c.413-456del (n.413-456del) c.5-27537del (n.5-27537del) c.-43-16967del (n.-43-16967del) c.-99+33783del (n.-99+33783del) n.4179del n.4220del | ClinVar dbSNP |
| 17 | g.43091488_43091490delinsCCT | CA2260781968 | BRCA1 | n.4105_4107delinsAGG c.4041_4043delinsAGG (p.Arg1347=) c.3915_3917delinsAGG (p.Arg1305=) c.4038_4040delinsAGG (p.Arg1346=) c.3963_3965delinsAGG (p.Arg1321=) c.785-458_785-456delinsAGG (n.785-458_785-456delinsAGG) c.647-458_647-456delinsAGG (n.647-458_647-456delinsAGG) c.3153_3155delinsAGG (p.Arg1051=) c.3918_3920delinsAGG (p.Arg1306=) c.3900_3902delinsAGG (p.Arg1300=) c.665-458_665-456delinsAGG (n.665-458_665-456delinsAGG) c.707-458_707-456delinsAGG (n.707-458_707-456delinsAGG) c.362_364delinsAGG c.671-458_671-456delinsAGG (n.671-458_671-456delinsAGG) c.*3824_*3826delinsAGG (n.*3824_*3826delinsAGG) c.335_337delinsAGG c.788-458_788-456delinsAGG (n.788-458_788-456delinsAGG) c.410-458_410-456delinsAGG (n.410-458_410-456delinsAGG) c.413-458_413-456delinsAGG (n.413-458_413-456delinsAGG) c.5-27539_5-27537delinsAGG (n.5-27539_5-27537delinsAGG) c.-43-16969_-43-16967delinsAGG (n.-43-16969_-43-16967delinsAGG) c.-99+33781_-99+33783delinsAGG (n.-99+33781_-99+33783delinsAGG) n.4177_4179delinsAGG n.4218_4220delinsAGG | |
| 17 | g.43091489C>A | CA10589699 | BRCA1 | n.4106G>T c.4042G>T (p.Gly1348Ter) c.3916G>T (p.Gly1306Ter) c.4039G>T (p.Gly1347Ter) c.3964G>T (p.Gly1322Ter) c.785-457G>T (n.785-457G>T) c.647-457G>T (n.647-457G>T) c.3154G>T (p.Gly1052Ter) c.3919G>T (p.Gly1307Ter) c.3901G>T (p.Gly1301Ter) c.665-457G>T (n.665-457G>T) c.707-457G>T (n.707-457G>T) c.363G>T c.671-457G>T (n.671-457G>T) c.*3825G>T (n.*3825G>T) c.336G>T c.788-457G>T (n.788-457G>T) c.410-457G>T (n.410-457G>T) c.413-457G>T (n.413-457G>T) c.5-27538G>T (n.5-27538G>T) c.-43-16968G>T (n.-43-16968G>T) c.-99+33782G>T (n.-99+33782G>T) n.4178G>T n.4219G>T | ClinVar dbSNP |
| 17 | g.43091489C= | CA2260781970 | BRCA1 | n.4106G= c.4042G= (p.Gly1348=) c.3916G= (p.Gly1306=) c.4039G= (p.Gly1347=) c.3964G= (p.Gly1322=) c.785-457G= (n.785-457G=) c.647-457G= (n.647-457G=) c.3154G= (p.Gly1052=) c.3919G= (p.Gly1307=) c.3901G= (p.Gly1301=) c.665-457G= (n.665-457G=) c.707-457G= (n.707-457G=) c.363G= c.671-457G= (n.671-457G=) c.*3825G= (n.*3825G=) c.336G= c.788-457G= (n.788-457G=) c.410-457G= (n.410-457G=) c.413-457G= (n.413-457G=) c.5-27538G= (n.5-27538G=) c.-43-16968G= (n.-43-16968G=) c.-99+33782G= (n.-99+33782G=) n.4178G= n.4219G= | |
| 17 | g.43091489C>G | CA10593874 | BRCA1 | n.4106G>C c.4042G>C (p.Gly1348Arg) c.3916G>C (p.Gly1306Arg) c.4039G>C (p.Gly1347Arg) c.3964G>C (p.Gly1322Arg) c.785-457G>C (n.785-457G>C) c.647-457G>C (n.647-457G>C) c.3154G>C (p.Gly1052Arg) c.3919G>C (p.Gly1307Arg) c.3901G>C (p.Gly1301Arg) c.665-457G>C (n.665-457G>C) c.707-457G>C (n.707-457G>C) c.363G>C c.671-457G>C (n.671-457G>C) c.*3825G>C (n.*3825G>C) c.336G>C c.788-457G>C (n.788-457G>C) c.410-457G>C (n.410-457G>C) c.413-457G>C (n.413-457G>C) c.5-27538G>C (n.5-27538G>C) c.-43-16968G>C (n.-43-16968G>C) c.-99+33782G>C (n.-99+33782G>C) n.4178G>C n.4219G>C | |
| 17 | g.43091489C>T | CA10593875 | BRCA1 | n.4106G>A c.4042G>A (p.Gly1348Arg) c.3916G>A (p.Gly1306Arg) c.4039G>A (p.Gly1347Arg) c.3964G>A (p.Gly1322Arg) c.785-457G>A (n.785-457G>A) c.647-457G>A (n.647-457G>A) c.3154G>A (p.Gly1052Arg) c.3919G>A (p.Gly1307Arg) c.3901G>A (p.Gly1301Arg) c.665-457G>A (n.665-457G>A) c.707-457G>A (n.707-457G>A) c.363G>A c.671-457G>A (n.671-457G>A) c.*3825G>A (n.*3825G>A) c.336G>A c.788-457G>A (n.788-457G>A) c.410-457G>A (n.410-457G>A) c.413-457G>A (n.413-457G>A) c.5-27538G>A (n.5-27538G>A) c.-43-16968G>A (n.-43-16968G>A) c.-99+33782G>A (n.-99+33782G>A) n.4178G>A n.4219G>A | dbSNP |
| 17 | g.43091491_43091492del | CA002581 | BRCA1 | n.4105_4106del c.4041_4042del (p.Gly1348AsnfsTer7) c.3915_3916del (p.Gly1306AsnfsTer7) c.4038_4039del (p.Gly1347AsnfsTer7) c.3963_3964del (p.Gly1322AsnfsTer7) c.785-458_785-457del (n.785-458_785-457del) c.647-458_647-457del (n.647-458_647-457del) c.3153_3154del (p.Gly1052AsnfsTer7) c.3918_3919del (p.Gly1307AsnfsTer7) c.3900_3901del (p.Gly1301AsnfsTer7) c.665-458_665-457del (n.665-458_665-457del) c.707-458_707-457del (n.707-458_707-457del) c.362_363del c.671-458_671-457del (n.671-458_671-457del) c.*3824_*3825del (n.*3824_*3825del) c.335_336del c.788-458_788-457del (n.788-458_788-457del) c.410-458_410-457del (n.410-458_410-457del) c.413-458_413-457del (n.413-458_413-457del) c.5-27539_5-27538del (n.5-27539_5-27538del) c.-43-16969_-43-16968del (n.-43-16969_-43-16968del) c.-99+33781_-99+33782del (n.-99+33781_-99+33782del) n.4177_4178del n.4218_4219del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.43091489_43091493delinsCTCTT | CA2260781969 | BRCA1 | n.4102_4106delinsAAGAG c.4038_4042delinsAAGAG (p.Glu1346=) c.3912_3916delinsAAGAG (p.Glu1304=) c.4035_4039delinsAAGAG (p.Glu1345=) c.3960_3964delinsAAGAG (p.Glu1320=) c.785-461_785-457delinsAAGAG (n.785-461_785-457delinsAAGAG) c.647-461_647-457delinsAAGAG (n.647-461_647-457delinsAAGAG) c.3150_3154delinsAAGAG (p.Glu1050=) c.3915_3919delinsAAGAG (p.Glu1305=) c.3897_3901delinsAAGAG (p.Glu1299=) c.665-461_665-457delinsAAGAG (n.665-461_665-457delinsAAGAG) c.707-461_707-457delinsAAGAG (n.707-461_707-457delinsAAGAG) c.359_363delinsAAGAG c.671-461_671-457delinsAAGAG (n.671-461_671-457delinsAAGAG) c.*3821_*3825delinsAAGAG (n.*3821_*3825delinsAAGAG) c.332_336delinsAAGAG c.788-461_788-457delinsAAGAG (n.788-461_788-457delinsAAGAG) c.410-461_410-457delinsAAGAG (n.410-461_410-457delinsAAGAG) c.413-461_413-457delinsAAGAG (n.413-461_413-457delinsAAGAG) c.5-27542_5-27538delinsAAGAG (n.5-27542_5-27538delinsAAGAG) c.-43-16972_-43-16968delinsAAGAG (n.-43-16972_-43-16968delinsAAGAG) c.-99+33778_-99+33782delinsAAGAG (n.-99+33778_-99+33782delinsAAGAG) n.4174_4178delinsAAGAG n.4215_4219delinsAAGAG | |
| 17 | g.43091490del | CA2513807920 | BRCA1 | n.4105del c.4041del (p.Gly1348GlufsTer18) c.3915del (p.Gly1306GlufsTer18) c.4038del (p.Gly1347GlufsTer18) c.3963del (p.Gly1322GlufsTer18) c.785-458del (n.785-458del) c.647-458del (n.647-458del) c.3153del (p.Gly1052GlufsTer18) c.3918del (p.Gly1307GlufsTer18) c.3900del (p.Gly1301GlufsTer18) c.665-458del (n.665-458del) c.707-458del (n.707-458del) c.362del c.671-458del (n.671-458del) c.*3824del (n.*3824del) c.335del c.788-458del (n.788-458del) c.410-458del (n.410-458del) c.413-458del (n.413-458del) c.5-27539del (n.5-27539del) c.-43-16969del (n.-43-16969del) c.-99+33781del (n.-99+33781del) n.4177del n.4218del | |
| 17 | g.43091490T>A | CA10593876 | BRCA1 | n.4105A>T c.4041A>T (p.Arg1347Ser) c.3915A>T (p.Arg1305Ser) c.4038A>T (p.Arg1346Ser) c.3963A>T (p.Arg1321Ser) c.785-458A>T (n.785-458A>T) c.647-458A>T (n.647-458A>T) c.3153A>T (p.Arg1051Ser) c.3918A>T (p.Arg1306Ser) c.3900A>T (p.Arg1300Ser) c.665-458A>T (n.665-458A>T) c.707-458A>T (n.707-458A>T) c.362A>T c.671-458A>T (n.671-458A>T) c.*3824A>T (n.*3824A>T) c.335A>T c.788-458A>T (n.788-458A>T) c.410-458A>T (n.410-458A>T) c.413-458A>T (n.413-458A>T) c.5-27539A>T (n.5-27539A>T) c.-43-16969A>T (n.-43-16969A>T) c.-99+33781A>T (n.-99+33781A>T) n.4177A>T n.4218A>T | |
| 17 | g.43091490T>C | CA500231993 | BRCA1 | n.4105A>G c.4041A>G (p.Arg1347=) c.3915A>G (p.Arg1305=) c.4038A>G (p.Arg1346=) c.3963A>G (p.Arg1321=) c.785-458A>G (n.785-458A>G) c.647-458A>G (n.647-458A>G) c.3153A>G (p.Arg1051=) c.3918A>G (p.Arg1306=) c.3900A>G (p.Arg1300=) c.665-458A>G (n.665-458A>G) c.707-458A>G (n.707-458A>G) c.362A>G c.671-458A>G (n.671-458A>G) c.*3824A>G (n.*3824A>G) c.335A>G c.788-458A>G (n.788-458A>G) c.410-458A>G (n.410-458A>G) c.413-458A>G (n.413-458A>G) c.5-27539A>G (n.5-27539A>G) c.-43-16969A>G (n.-43-16969A>G) c.-99+33781A>G (n.-99+33781A>G) n.4177A>G n.4218A>G | dbSNP gnomAD v4 |
| 17 | g.43091490T>G | CA10593877 | BRCA1 | n.4105A>C c.4041A>C (p.Arg1347Ser) c.3915A>C (p.Arg1305Ser) c.4038A>C (p.Arg1346Ser) c.3963A>C (p.Arg1321Ser) c.785-458A>C (n.785-458A>C) c.647-458A>C (n.647-458A>C) c.3153A>C (p.Arg1051Ser) c.3918A>C (p.Arg1306Ser) c.3900A>C (p.Arg1300Ser) c.665-458A>C (n.665-458A>C) c.707-458A>C (n.707-458A>C) c.362A>C c.671-458A>C (n.671-458A>C) c.*3824A>C (n.*3824A>C) c.335A>C c.788-458A>C (n.788-458A>C) c.410-458A>C (n.410-458A>C) c.413-458A>C (n.413-458A>C) c.5-27539A>C (n.5-27539A>C) c.-43-16969A>C (n.-43-16969A>C) c.-99+33781A>C (n.-99+33781A>C) n.4177A>C n.4218A>C | |
| 17 | g.43091490T= | CA2260781971 | BRCA1 | n.4105A= c.4041A= (p.Arg1347=) c.3915A= (p.Arg1305=) c.4038A= (p.Arg1346=) c.3963A= (p.Arg1321=) c.785-458A= (n.785-458A=) c.647-458A= (n.647-458A=) c.3153A= (p.Arg1051=) c.3918A= (p.Arg1306=) c.3900A= (p.Arg1300=) c.665-458A= (n.665-458A=) c.707-458A= (n.707-458A=) c.362A= c.671-458A= (n.671-458A=) c.*3824A= (n.*3824A=) c.335A= c.788-458A= (n.788-458A=) c.410-458A= (n.410-458A=) c.413-458A= (n.413-458A=) c.5-27539A= (n.5-27539A=) c.-43-16969A= (n.-43-16969A=) c.-99+33781A= (n.-99+33781A=) n.4177A= n.4218A= | |
| 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.43091491C>A | CA10593878 | BRCA1 | n.4104G>T c.4040G>T (p.Arg1347Ile) c.3914G>T (p.Arg1305Ile) c.4037G>T (p.Arg1346Ile) c.3962G>T (p.Arg1321Ile) c.785-459G>T (n.785-459G>T) c.647-459G>T (n.647-459G>T) c.3152G>T (p.Arg1051Ile) c.3917G>T (p.Arg1306Ile) c.3899G>T (p.Arg1300Ile) c.665-459G>T (n.665-459G>T) c.707-459G>T (n.707-459G>T) c.361G>T c.671-459G>T (n.671-459G>T) c.*3823G>T (n.*3823G>T) c.334G>T c.788-459G>T (n.788-459G>T) c.410-459G>T (n.410-459G>T) c.413-459G>T (n.413-459G>T) c.5-27540G>T (n.5-27540G>T) c.-43-16970G>T (n.-43-16970G>T) c.-99+33780G>T (n.-99+33780G>T) n.4176G>T n.4217G>T | ClinVar |
| 17 | g.43091491C= | CA2260781972 | BRCA1 | n.4104G= c.4040G= (p.Arg1347=) c.3914G= (p.Arg1305=) c.4037G= (p.Arg1346=) c.3962G= (p.Arg1321=) c.785-459G= (n.785-459G=) c.647-459G= (n.647-459G=) c.3152G= (p.Arg1051=) c.3917G= (p.Arg1306=) c.3899G= (p.Arg1300=) c.665-459G= (n.665-459G=) c.707-459G= (n.707-459G=) c.361G= c.671-459G= (n.671-459G=) c.*3823G= (n.*3823G=) c.334G= c.788-459G= (n.788-459G=) c.410-459G= (n.410-459G=) c.413-459G= (n.413-459G=) c.5-27540G= (n.5-27540G=) c.-43-16970G= (n.-43-16970G=) c.-99+33780G= (n.-99+33780G=) n.4176G= n.4217G= | |
| 17 | g.43091491C>G | CA10593879 | BRCA1 | n.4104G>C c.4040G>C (p.Arg1347Thr) c.3914G>C (p.Arg1305Thr) c.4037G>C (p.Arg1346Thr) c.3962G>C (p.Arg1321Thr) c.785-459G>C (n.785-459G>C) c.647-459G>C (n.647-459G>C) c.3152G>C (p.Arg1051Thr) c.3917G>C (p.Arg1306Thr) c.3899G>C (p.Arg1300Thr) c.665-459G>C (n.665-459G>C) c.707-459G>C (n.707-459G>C) c.361G>C c.671-459G>C (n.671-459G>C) c.*3823G>C (n.*3823G>C) c.334G>C c.788-459G>C (n.788-459G>C) c.410-459G>C (n.410-459G>C) c.413-459G>C (n.413-459G>C) c.5-27540G>C (n.5-27540G>C) c.-43-16970G>C (n.-43-16970G>C) c.-99+33780G>C (n.-99+33780G>C) n.4176G>C n.4217G>C | dbSNP |
| 17 | g.43091491C>T | CA002579 | BRCA1 | n.4104G>A c.4040G>A (p.Arg1347Lys) c.3914G>A (p.Arg1305Lys) c.4037G>A (p.Arg1346Lys) c.3962G>A (p.Arg1321Lys) c.785-459G>A (n.785-459G>A) c.647-459G>A (n.647-459G>A) c.3152G>A (p.Arg1051Lys) c.3917G>A (p.Arg1306Lys) c.3899G>A (p.Arg1300Lys) c.665-459G>A (n.665-459G>A) c.707-459G>A (n.707-459G>A) c.361G>A c.671-459G>A (n.671-459G>A) c.*3823G>A (n.*3823G>A) c.334G>A c.788-459G>A (n.788-459G>A) c.410-459G>A (n.410-459G>A) c.413-459G>A (n.413-459G>A) c.5-27540G>A (n.5-27540G>A) c.-43-16970G>A (n.-43-16970G>A) c.-99+33780G>A (n.-99+33780G>A) n.4176G>A n.4217G>A | ClinVar dbSNP gnomAD v4 |
| 17 | g.43091491_43091493delinsCTT | CA2260781973 | BRCA1 | n.4102_4104delinsAAG c.4038_4040delinsAAG (p.Glu1346=) c.3912_3914delinsAAG (p.Glu1304=) c.4035_4037delinsAAG (p.Glu1345=) c.3960_3962delinsAAG (p.Glu1320=) c.785-461_785-459delinsAAG (n.785-461_785-459delinsAAG) c.647-461_647-459delinsAAG (n.647-461_647-459delinsAAG) c.3150_3152delinsAAG (p.Glu1050=) c.3915_3917delinsAAG (p.Glu1305=) c.3897_3899delinsAAG (p.Glu1299=) c.665-461_665-459delinsAAG (n.665-461_665-459delinsAAG) c.707-461_707-459delinsAAG (n.707-461_707-459delinsAAG) c.359_361delinsAAG c.671-461_671-459delinsAAG (n.671-461_671-459delinsAAG) c.*3821_*3823delinsAAG (n.*3821_*3823delinsAAG) c.332_334delinsAAG c.788-461_788-459delinsAAG (n.788-461_788-459delinsAAG) c.410-461_410-459delinsAAG (n.410-461_410-459delinsAAG) c.413-461_413-459delinsAAG (n.413-461_413-459delinsAAG) c.5-27542_5-27540delinsAAG (n.5-27542_5-27540delinsAAG) c.-43-16972_-43-16970delinsAAG (n.-43-16972_-43-16970delinsAAG) c.-99+33778_-99+33780delinsAAG (n.-99+33778_-99+33780delinsAAG) n.4174_4176delinsAAG n.4215_4217delinsAAG | |
| 17 | g.43091492T>A | CA10593880 | BRCA1 | n.4103A>T c.4039A>T (p.Arg1347Ter) c.3913A>T (p.Arg1305Ter) c.4036A>T (p.Arg1346Ter) c.3961A>T (p.Arg1321Ter) c.785-460A>T (n.785-460A>T) c.647-460A>T (n.647-460A>T) c.3151A>T (p.Arg1051Ter) c.3916A>T (p.Arg1306Ter) c.3898A>T (p.Arg1300Ter) c.665-460A>T (n.665-460A>T) c.707-460A>T (n.707-460A>T) c.360A>T c.671-460A>T (n.671-460A>T) c.*3822A>T (n.*3822A>T) c.333A>T c.788-460A>T (n.788-460A>T) c.410-460A>T (n.410-460A>T) c.413-460A>T (n.413-460A>T) c.5-27541A>T (n.5-27541A>T) c.-43-16971A>T (n.-43-16971A>T) c.-99+33779A>T (n.-99+33779A>T) n.4175A>T n.4216A>T | ClinVar dbSNP gnomAD v4 |
| 17 | g.43091492T>C | CA002578 | BRCA1 | n.4103A>G c.4039A>G (p.Arg1347Gly) c.3913A>G (p.Arg1305Gly) c.4036A>G (p.Arg1346Gly) c.3961A>G (p.Arg1321Gly) c.785-460A>G (n.785-460A>G) c.647-460A>G (n.647-460A>G) c.3151A>G (p.Arg1051Gly) c.3916A>G (p.Arg1306Gly) c.3898A>G (p.Arg1300Gly) c.665-460A>G (n.665-460A>G) c.707-460A>G (n.707-460A>G) c.360A>G c.671-460A>G (n.671-460A>G) c.*3822A>G (n.*3822A>G) c.333A>G c.788-460A>G (n.788-460A>G) c.410-460A>G (n.410-460A>G) c.413-460A>G (n.413-460A>G) c.5-27541A>G (n.5-27541A>G) c.-43-16971A>G (n.-43-16971A>G) c.-99+33779A>G (n.-99+33779A>G) n.4175A>G n.4216A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.43091492T>G | CA500231994 | BRCA1 | n.4103A>C c.4039A>C (p.Arg1347=) c.3913A>C (p.Arg1305=) c.4036A>C (p.Arg1346=) c.3961A>C (p.Arg1321=) c.785-460A>C (n.785-460A>C) c.647-460A>C (n.647-460A>C) c.3151A>C (p.Arg1051=) c.3916A>C (p.Arg1306=) c.3898A>C (p.Arg1300=) c.665-460A>C (n.665-460A>C) c.707-460A>C (n.707-460A>C) c.360A>C c.671-460A>C (n.671-460A>C) c.*3822A>C (n.*3822A>C) c.333A>C c.788-460A>C (n.788-460A>C) c.410-460A>C (n.410-460A>C) c.413-460A>C (n.413-460A>C) c.5-27541A>C (n.5-27541A>C) c.-43-16971A>C (n.-43-16971A>C) c.-99+33779A>C (n.-99+33779A>C) n.4175A>C n.4216A>C | |
| 17 | g.43091492T= | CA2260781975 | BRCA1 | n.4103A= c.4039A= (p.Arg1347=) c.3913A= (p.Arg1305=) c.4036A= (p.Arg1346=) c.3961A= (p.Arg1321=) c.785-460A= (n.785-460A=) c.647-460A= (n.647-460A=) c.3151A= (p.Arg1051=) c.3916A= (p.Arg1306=) c.3898A= (p.Arg1300=) c.665-460A= (n.665-460A=) c.707-460A= (n.707-460A=) c.360A= c.671-460A= (n.671-460A=) c.*3822A= (n.*3822A=) c.333A= c.788-460A= (n.788-460A=) c.410-460A= (n.410-460A=) c.413-460A= (n.413-460A=) c.5-27541A= (n.5-27541A=) c.-43-16971A= (n.-43-16971A=) c.-99+33779A= (n.-99+33779A=) n.4175A= n.4216A= | |
| 17 | g.43091494dup | CA10589700 | BRCA1 | n.4103dup c.4039dup (p.Arg1347LysfsTer9) c.3913dup (p.Arg1305LysfsTer9) c.4036dup (p.Arg1346LysfsTer9) c.3961dup (p.Arg1321LysfsTer9) c.785-460dup (n.785-460dup) c.647-460dup (n.647-460dup) c.3151dup (p.Arg1051LysfsTer9) c.3916dup (p.Arg1306LysfsTer9) c.3898dup (p.Arg1300LysfsTer9) c.665-460dup (n.665-460dup) c.707-460dup (n.707-460dup) c.360dup c.671-460dup (n.671-460dup) c.*3822dup (n.*3822dup) c.333dup c.788-460dup (n.788-460dup) c.410-460dup (n.410-460dup) c.413-460dup (n.413-460dup) c.5-27541dup (n.5-27541dup) c.-43-16971dup (n.-43-16971dup) c.-99+33779dup (n.-99+33779dup) n.4175dup n.4216dup | ClinVar dbSNP |
| 17 | g.43091493_43091494del | CA002576 | BRCA1 | n.4102_4103del c.4038_4039del (p.Gly1348AsnfsTer7) c.3912_3913del (p.Gly1306AsnfsTer7) c.4035_4036del (p.Gly1347AsnfsTer7) c.3960_3961del (p.Gly1322AsnfsTer7) c.785-461_785-460del (n.785-461_785-460del) c.647-461_647-460del (n.647-461_647-460del) c.3150_3151del (p.Gly1052AsnfsTer7) c.3915_3916del (p.Gly1307AsnfsTer7) c.3897_3898del (p.Gly1301AsnfsTer7) c.665-461_665-460del (n.665-461_665-460del) c.707-461_707-460del (n.707-461_707-460del) c.359_360del c.671-461_671-460del (n.671-461_671-460del) c.*3821_*3822del (n.*3821_*3822del) c.332_333del c.788-461_788-460del (n.788-461_788-460del) c.410-461_410-460del (n.410-461_410-460del) c.413-461_413-460del (n.413-461_413-460del) c.5-27542_5-27541del (n.5-27542_5-27541del) c.-43-16972_-43-16971del (n.-43-16972_-43-16971del) c.-99+33778_-99+33779del (n.-99+33778_-99+33779del) n.4174_4175del n.4215_4216del | ClinVar dbSNP |
| 17 | g.43091492_43091495delinsTTTC | CA2260781974 | BRCA1 | n.4100_4103delinsGAAA c.4036_4039delinsGAAA (p.Glu1346=) c.3910_3913delinsGAAA (p.Glu1304=) c.4033_4036delinsGAAA (p.Glu1345=) c.3958_3961delinsGAAA (p.Glu1320=) c.785-463_785-460delinsGAAA (n.785-463_785-460delinsGAAA) c.647-463_647-460delinsGAAA (n.647-463_647-460delinsGAAA) c.3148_3151delinsGAAA (p.Glu1050=) c.3913_3916delinsGAAA (p.Glu1305=) c.3895_3898delinsGAAA (p.Glu1299=) c.665-463_665-460delinsGAAA (n.665-463_665-460delinsGAAA) c.707-463_707-460delinsGAAA (n.707-463_707-460delinsGAAA) c.357_360delinsGAAA c.671-463_671-460delinsGAAA (n.671-463_671-460delinsGAAA) c.*3819_*3822delinsGAAA (n.*3819_*3822delinsGAAA) c.330_333delinsGAAA c.788-463_788-460delinsGAAA (n.788-463_788-460delinsGAAA) c.410-463_410-460delinsGAAA (n.410-463_410-460delinsGAAA) c.413-463_413-460delinsGAAA (n.413-463_413-460delinsGAAA) c.5-27544_5-27541delinsGAAA (n.5-27544_5-27541delinsGAAA) c.-43-16974_-43-16971delinsGAAA (n.-43-16974_-43-16971delinsGAAA) c.-99+33776_-99+33779delinsGAAA (n.-99+33776_-99+33779delinsGAAA) n.4172_4175delinsGAAA n.4213_4216delinsGAAA | |
| 17 | g.43091493T>A | CA10593881 | BRCA1 | n.4102A>T c.4038A>T (p.Glu1346Asp) c.3912A>T (p.Glu1304Asp) c.4035A>T (p.Glu1345Asp) c.3960A>T (p.Glu1320Asp) c.785-461A>T (n.785-461A>T) c.647-461A>T (n.647-461A>T) c.3150A>T (p.Glu1050Asp) c.3915A>T (p.Glu1305Asp) c.3897A>T (p.Glu1299Asp) c.665-461A>T (n.665-461A>T) c.707-461A>T (n.707-461A>T) c.359A>T c.671-461A>T (n.671-461A>T) c.*3821A>T (n.*3821A>T) c.332A>T c.788-461A>T (n.788-461A>T) c.410-461A>T (n.410-461A>T) c.413-461A>T (n.413-461A>T) c.5-27542A>T (n.5-27542A>T) c.-43-16972A>T (n.-43-16972A>T) c.-99+33778A>T (n.-99+33778A>T) n.4174A>T n.4215A>T | |
| 17 | g.43091493T>C | CA500231995 | BRCA1 | n.4102A>G c.4038A>G (p.Glu1346=) c.3912A>G (p.Glu1304=) c.4035A>G (p.Glu1345=) c.3960A>G (p.Glu1320=) c.785-461A>G (n.785-461A>G) c.647-461A>G (n.647-461A>G) c.3150A>G (p.Glu1050=) c.3915A>G (p.Glu1305=) c.3897A>G (p.Glu1299=) c.665-461A>G (n.665-461A>G) c.707-461A>G (n.707-461A>G) c.359A>G c.671-461A>G (n.671-461A>G) c.*3821A>G (n.*3821A>G) c.332A>G c.788-461A>G (n.788-461A>G) c.410-461A>G (n.410-461A>G) c.413-461A>G (n.413-461A>G) c.5-27542A>G (n.5-27542A>G) c.-43-16972A>G (n.-43-16972A>G) c.-99+33778A>G (n.-99+33778A>G) n.4174A>G n.4215A>G | ClinVar dbSNP |
| 17 | g.43091493T>G | CA10593882 | BRCA1 | n.4102A>C c.4038A>C (p.Glu1346Asp) c.3912A>C (p.Glu1304Asp) c.4035A>C (p.Glu1345Asp) c.3960A>C (p.Glu1320Asp) c.785-461A>C (n.785-461A>C) c.647-461A>C (n.647-461A>C) c.3150A>C (p.Glu1050Asp) c.3915A>C (p.Glu1305Asp) c.3897A>C (p.Glu1299Asp) c.665-461A>C (n.665-461A>C) c.707-461A>C (n.707-461A>C) c.359A>C c.671-461A>C (n.671-461A>C) c.*3821A>C (n.*3821A>C) c.332A>C c.788-461A>C (n.788-461A>C) c.410-461A>C (n.410-461A>C) c.413-461A>C (n.413-461A>C) c.5-27542A>C (n.5-27542A>C) c.-43-16972A>C (n.-43-16972A>C) c.-99+33778A>C (n.-99+33778A>C) n.4174A>C n.4215A>C | ClinVar dbSNP |
| 17 | g.43091493T= | CA2260781976 | BRCA1 | n.4102A= c.4038A= (p.Glu1346=) c.3912A= (p.Glu1304=) c.4035A= (p.Glu1345=) c.3960A= (p.Glu1320=) c.785-461A= (n.785-461A=) c.647-461A= (n.647-461A=) c.3150A= (p.Glu1050=) c.3915A= (p.Glu1305=) c.3897A= (p.Glu1299=) c.665-461A= (n.665-461A=) c.707-461A= (n.707-461A=) c.359A= c.671-461A= (n.671-461A=) c.*3821A= (n.*3821A=) c.332A= c.788-461A= (n.788-461A=) c.410-461A= (n.410-461A=) c.413-461A= (n.413-461A=) c.5-27542A= (n.5-27542A=) c.-43-16972A= (n.-43-16972A=) c.-99+33778A= (n.-99+33778A=) n.4174A= n.4215A= | |
| 17 | g.43091496_43091498del | CA002574 | BRCA1 | n.4100_4102del c.4036_4038del (p.Glu1346del) c.3910_3912del (p.Glu1304del) c.4033_4035del (p.Glu1345del) c.3958_3960del (p.Glu1320del) c.785-463_785-461del (n.785-463_785-461del) c.647-463_647-461del (n.647-463_647-461del) c.3148_3150del (p.Glu1050del) c.3913_3915del (p.Glu1305del) c.3895_3897del (p.Glu1299del) c.665-463_665-461del (n.665-463_665-461del) c.707-463_707-461del (n.707-463_707-461del) c.357_359del c.671-463_671-461del (n.671-463_671-461del) c.*3819_*3821del (n.*3819_*3821del) c.330_332del c.788-463_788-461del (n.788-463_788-461del) c.410-463_410-461del (n.410-463_410-461del) c.413-463_413-461del (n.413-463_413-461del) c.5-27544_5-27542del (n.5-27544_5-27542del) c.-43-16974_-43-16972del (n.-43-16974_-43-16972del) c.-99+33776_-99+33778del (n.-99+33776_-99+33778del) n.4172_4174del n.4213_4215del | ClinVar dbSNP |
| 17 | g.43091494T>A | CA10593883 | BRCA1 | n.4101A>T c.4037A>T (p.Glu1346Val) c.3911A>T (p.Glu1304Val) c.4034A>T (p.Glu1345Val) c.3959A>T (p.Glu1320Val) c.785-462A>T (n.785-462A>T) c.647-462A>T (n.647-462A>T) c.3149A>T (p.Glu1050Val) c.3914A>T (p.Glu1305Val) c.3896A>T (p.Glu1299Val) c.665-462A>T (n.665-462A>T) c.707-462A>T (n.707-462A>T) c.358A>T c.671-462A>T (n.671-462A>T) c.*3820A>T (n.*3820A>T) c.331A>T c.788-462A>T (n.788-462A>T) c.410-462A>T (n.410-462A>T) c.413-462A>T (n.413-462A>T) c.5-27543A>T (n.5-27543A>T) c.-43-16973A>T (n.-43-16973A>T) c.-99+33777A>T (n.-99+33777A>T) n.4173A>T n.4214A>T | |
| 17 | g.43091494T>C | CA10593884 | BRCA1 | n.4101A>G c.4037A>G (p.Glu1346Gly) c.3911A>G (p.Glu1304Gly) c.4034A>G (p.Glu1345Gly) c.3959A>G (p.Glu1320Gly) c.785-462A>G (n.785-462A>G) c.647-462A>G (n.647-462A>G) c.3149A>G (p.Glu1050Gly) c.3914A>G (p.Glu1305Gly) c.3896A>G (p.Glu1299Gly) c.665-462A>G (n.665-462A>G) c.707-462A>G (n.707-462A>G) c.358A>G c.671-462A>G (n.671-462A>G) c.*3820A>G (n.*3820A>G) c.331A>G c.788-462A>G (n.788-462A>G) c.410-462A>G (n.410-462A>G) c.413-462A>G (n.413-462A>G) c.5-27543A>G (n.5-27543A>G) c.-43-16973A>G (n.-43-16973A>G) c.-99+33777A>G (n.-99+33777A>G) n.4173A>G n.4214A>G | ClinVar dbSNP gnomAD v4 |
| 17 | g.43091494T>G | CA10593885 | BRCA1 | n.4101A>C c.4037A>C (p.Glu1346Ala) c.3911A>C (p.Glu1304Ala) c.4034A>C (p.Glu1345Ala) c.3959A>C (p.Glu1320Ala) c.785-462A>C (n.785-462A>C) c.647-462A>C (n.647-462A>C) c.3149A>C (p.Glu1050Ala) c.3914A>C (p.Glu1305Ala) c.3896A>C (p.Glu1299Ala) c.665-462A>C (n.665-462A>C) c.707-462A>C (n.707-462A>C) c.358A>C c.671-462A>C (n.671-462A>C) c.*3820A>C (n.*3820A>C) c.331A>C c.788-462A>C (n.788-462A>C) c.410-462A>C (n.410-462A>C) c.413-462A>C (n.413-462A>C) c.5-27543A>C (n.5-27543A>C) c.-43-16973A>C (n.-43-16973A>C) c.-99+33777A>C (n.-99+33777A>C) n.4173A>C n.4214A>C | |
| 17 | g.43091494T= | CA2260781977 | BRCA1 | n.4101A= c.4037A= (p.Glu1346=) c.3911A= (p.Glu1304=) c.4034A= (p.Glu1345=) c.3959A= (p.Glu1320=) c.785-462A= (n.785-462A=) c.647-462A= (n.647-462A=) c.3149A= (p.Glu1050=) c.3914A= (p.Glu1305=) c.3896A= (p.Glu1299=) c.665-462A= (n.665-462A=) c.707-462A= (n.707-462A=) c.358A= c.671-462A= (n.671-462A=) c.*3820A= (n.*3820A=) c.331A= c.788-462A= (n.788-462A=) c.410-462A= (n.410-462A=) c.413-462A= (n.413-462A=) c.5-27543A= (n.5-27543A=) c.-43-16973A= (n.-43-16973A=) c.-99+33777A= (n.-99+33777A=) n.4173A= n.4214A= | |
| 17 | g.43091494_43091495delinsTC | CA2260781978 | BRCA1 | n.4100_4101delinsGA c.4036_4037delinsGA (p.Glu1346=) c.3910_3911delinsGA (p.Glu1304=) c.4033_4034delinsGA (p.Glu1345=) c.3958_3959delinsGA (p.Glu1320=) c.785-463_785-462delinsGA (n.785-463_785-462delinsGA) c.647-463_647-462delinsGA (n.647-463_647-462delinsGA) c.3148_3149delinsGA (p.Glu1050=) c.3913_3914delinsGA (p.Glu1305=) c.3895_3896delinsGA (p.Glu1299=) c.665-463_665-462delinsGA (n.665-463_665-462delinsGA) c.707-463_707-462delinsGA (n.707-463_707-462delinsGA) c.357_358delinsGA c.671-463_671-462delinsGA (n.671-463_671-462delinsGA) c.*3819_*3820delinsGA (n.*3819_*3820delinsGA) c.330_331delinsGA c.788-463_788-462delinsGA (n.788-463_788-462delinsGA) c.410-463_410-462delinsGA (n.410-463_410-462delinsGA) c.413-463_413-462delinsGA (n.413-463_413-462delinsGA) c.5-27544_5-27543delinsGA (n.5-27544_5-27543delinsGA) c.-43-16974_-43-16973delinsGA (n.-43-16974_-43-16973delinsGA) c.-99+33776_-99+33777delinsGA (n.-99+33776_-99+33777delinsGA) n.4172_4173delinsGA n.4213_4214delinsGA | |
| 17 | g.43091495_43091496del | CA059033 | BRCA1 | n.4100_4101del c.4036_4037del (p.Glu1346LysfsTer9) c.3910_3911del (p.Glu1304LysfsTer9) c.4033_4034del (p.Glu1345LysfsTer9) c.3958_3959del (p.Glu1320LysfsTer9) c.785-463_785-462del (n.785-463_785-462del) c.647-463_647-462del (n.647-463_647-462del) c.3148_3149del (p.Glu1050LysfsTer9) c.3913_3914del (p.Glu1305LysfsTer9) c.3895_3896del (p.Glu1299LysfsTer9) c.665-463_665-462del (n.665-463_665-462del) c.707-463_707-462del (n.707-463_707-462del) c.357_358del c.671-463_671-462del (n.671-463_671-462del) c.*3819_*3820del (n.*3819_*3820del) c.330_331del c.788-463_788-462del (n.788-463_788-462del) c.410-463_410-462del (n.410-463_410-462del) c.413-463_413-462del (n.413-463_413-462del) c.5-27544_5-27543del (n.5-27544_5-27543del) c.-43-16974_-43-16973del (n.-43-16974_-43-16973del) c.-99+33776_-99+33777del (n.-99+33776_-99+33777del) n.4172_4173del n.4213_4214del |