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.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.43091560_43092541dup | CA1139665610 | BRCA1 | n.3054_4035dup c.2990_3971dup (p.Met1324IlefsTer8) c.2864_3845dup (p.Met1282IlefsTer8) c.2987_3968dup (p.Met1323IlefsTer8) c.2912_3893dup (p.Met1298IlefsTer8) c.785-1509_785-528dup (n.785-1509_785-528dup) c.647-1509_647-528dup (n.647-1509_647-528dup) c.2102_3083dup (p.Met1028IlefsTer8) c.2867_3848dup (p.Met1283IlefsTer8) c.2849_3830dup (p.Met1277IlefsTer8) c.665-1509_665-528dup (n.665-1509_665-528dup) c.707-1509_707-528dup (n.707-1509_707-528dup) c.671-1509_671-528dup (n.671-1509_671-528dup) c.*2773_*3754dup (n.*2773_*3754dup) c.788-1509_788-528dup (n.788-1509_788-528dup) c.410-1509_410-528dup (n.410-1509_410-528dup) c.413-1509_413-528dup (n.413-1509_413-528dup) c.5-28590_5-27609dup (n.5-28590_5-27609dup) c.-43-18020_-43-17039dup (n.-43-18020_-43-17039dup) c.-99+32730_-99+33711dup (n.-99+32730_-99+33711dup) n.3126_4107dup n.3167_4148dup | ClinVar dbSNP |
17 | g.43091633_43094861del | CA2580618250 | BRCA1 | n.736_3964del c.672_3900del c.546_3774del c.669_3897del c.594_3822del c.669_785-599del c.531_647-599del c.-217_3012del c.549_3777del c.531_3759del c.549_665-599del c.591_707-599del c.670+987_671-599del (n.670+987_671-599del) c.*455_*3683del c.672_788-599del c.294_410-599del c.297_413-599del c.4+30323_5-27680del (n.4+30323_5-27680del) c.-43-20338_-43-17110del (n.-43-20338_-43-17110del) c.-99+30412_-99+33640del (n.-99+30412_-99+33640del) n.808_4036del n.849_4077del | |
17 | g.43091761_43091780delinsTCTGTGTTCTTAGACAGACA | CA2260782248 | BRCA1 | n.3815_3834delinsTGTCTGTCTAAGAACACAGA c.3751_3770delinsTGTCTGTCTAAGAACACAGA (p.Cys1251=) c.3625_3644delinsTGTCTGTCTAAGAACACAGA (p.Cys1209=) c.3748_3767delinsTGTCTGTCTAAGAACACAGA (p.Cys1250=) c.3673_3692delinsTGTCTGTCTAAGAACACAGA (p.Cys1225=) c.785-748_785-729delinsTGTCTGTCTAAGAACACAGA (n.785-748_785-729delinsTGTCTGTCTAAGAACACAGA) c.647-748_647-729delinsTGTCTGTCTAAGAACACAGA (n.647-748_647-729delinsTGTCTGTCTAAGAACACAGA) c.2863_2882delinsTGTCTGTCTAAGAACACAGA (p.Cys955=) c.3628_3647delinsTGTCTGTCTAAGAACACAGA (p.Cys1210=) c.3610_3629delinsTGTCTGTCTAAGAACACAGA (p.Cys1204=) c.665-748_665-729delinsTGTCTGTCTAAGAACACAGA (n.665-748_665-729delinsTGTCTGTCTAAGAACACAGA) c.707-748_707-729delinsTGTCTGTCTAAGAACACAGA (n.707-748_707-729delinsTGTCTGTCTAAGAACACAGA) c.72_91delinsTGTCTGTCTAAGAACACAGA c.671-748_671-729delinsTGTCTGTCTAAGAACACAGA (n.671-748_671-729delinsTGTCTGTCTAAGAACACAGA) c.*3534_*3553delinsTGTCTGTCTAAGAACACAGA (n.*3534_*3553delinsTGTCTGTCTAAGAACACAGA) c.45_64delinsTGTCTGTCTAAGAACACAGA c.788-748_788-729delinsTGTCTGTCTAAGAACACAGA (n.788-748_788-729delinsTGTCTGTCTAAGAACACAGA) c.410-748_410-729delinsTGTCTGTCTAAGAACACAGA (n.410-748_410-729delinsTGTCTGTCTAAGAACACAGA) c.413-748_413-729delinsTGTCTGTCTAAGAACACAGA (n.413-748_413-729delinsTGTCTGTCTAAGAACACAGA) c.5-27829_5-27810delinsTGTCTGTCTAAGAACACAGA (n.5-27829_5-27810delinsTGTCTGTCTAAGAACACAGA) c.-43-17259_-43-17240delinsTGTCTGTCTAAGAACACAGA (n.-43-17259_-43-17240delinsTGTCTGTCTAAGAACACAGA) c.-99+33491_-99+33510delinsTGTCTGTCTAAGAACACAGA (n.-99+33491_-99+33510delinsTGTCTGTCTAAGAACACAGA) n.3887_3906delinsTGTCTGTCTAAGAACACAGA n.3928_3947delinsTGTCTGTCTAAGAACACAGA | |
17 | g.43091764_43091782del | CA913190411 | BRCA1 | n.3815_3833del c.3751_3769del (p.Cys1251ArgfsTer7) c.3625_3643del (p.Cys1209ArgfsTer7) c.3748_3766del (p.Cys1250ArgfsTer7) c.3673_3691del (p.Cys1225ArgfsTer7) c.785-748_785-730del (n.785-748_785-730del) c.647-748_647-730del (n.647-748_647-730del) c.2863_2881del (p.Cys955ArgfsTer7) c.3628_3646del (p.Cys1210ArgfsTer7) c.3610_3628del (p.Cys1204ArgfsTer7) c.665-748_665-730del (n.665-748_665-730del) c.707-748_707-730del (n.707-748_707-730del) c.72_90del c.671-748_671-730del (n.671-748_671-730del) c.*3534_*3552del (n.*3534_*3552del) c.45_63del c.788-748_788-730del (n.788-748_788-730del) c.410-748_410-730del (n.410-748_410-730del) c.413-748_413-730del (n.413-748_413-730del) c.5-27829_5-27811del (n.5-27829_5-27811del) c.-43-17259_-43-17241del (n.-43-17259_-43-17241del) c.-99+33491_-99+33509del (n.-99+33491_-99+33509del) n.3887_3905del n.3928_3946del | ClinVar dbSNP |
17 | g.43091777_43091780del | CA002407 | BRCA1 | n.3820_3823del c.3756_3759del (p.Ser1253ArgfsTer10) c.3630_3633del (p.Ser1211ArgfsTer10) c.3753_3756del (p.Ser1252ArgfsTer10) c.3678_3681del (p.Ser1227ArgfsTer10) c.785-743_785-740del (n.785-743_785-740del) c.647-743_647-740del (n.647-743_647-740del) c.2868_2871del (p.Ser957ArgfsTer10) c.3633_3636del (p.Ser1212ArgfsTer10) c.3615_3618del (p.Ser1206ArgfsTer10) c.665-743_665-740del (n.665-743_665-740del) c.707-743_707-740del (n.707-743_707-740del) c.77_80del c.671-743_671-740del (n.671-743_671-740del) c.*3539_*3542del (n.*3539_*3542del) c.50_53del c.788-743_788-740del (n.788-743_788-740del) c.410-743_410-740del (n.410-743_410-740del) c.413-743_413-740del (n.413-743_413-740del) c.5-27824_5-27821del (n.5-27824_5-27821del) c.-43-17254_-43-17251del (n.-43-17254_-43-17251del) c.-99+33496_-99+33499del (n.-99+33496_-99+33499del) n.3892_3895del n.3933_3936del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43091780_43091781del | CA2695225958 | BRCA1 | n.3816_3817del c.3752_3753del (p.Cys1251SerfsTer3) c.3626_3627del (p.Cys1209SerfsTer3) c.3749_3750del (p.Cys1250SerfsTer3) c.3674_3675del (p.Cys1225SerfsTer3) c.785-747_785-746del (n.785-747_785-746del) c.647-747_647-746del (n.647-747_647-746del) c.2864_2865del (p.Cys955SerfsTer3) c.3629_3630del (p.Cys1210SerfsTer3) c.3611_3612del (p.Cys1204SerfsTer3) c.665-747_665-746del (n.665-747_665-746del) c.707-747_707-746del (n.707-747_707-746del) c.73_74del c.671-747_671-746del (n.671-747_671-746del) c.*3535_*3536del (n.*3535_*3536del) c.46_47del c.788-747_788-746del (n.788-747_788-746del) c.410-747_410-746del (n.410-747_410-746del) c.413-747_413-746del (n.413-747_413-746del) c.5-27828_5-27827del (n.5-27828_5-27827del) c.-43-17258_-43-17257del (n.-43-17258_-43-17257del) c.-99+33492_-99+33493del (n.-99+33492_-99+33493del) n.3888_3889del n.3929_3930del | |
17 | g.43091778_43091782delinsACACT | CA2260782277 | BRCA1 | n.3813_3817delinsAGTGT c.3749_3753delinsAGTGT (p.Glu1250=) c.3623_3627delinsAGTGT (p.Glu1208=) c.3746_3750delinsAGTGT (p.Glu1249=) c.3671_3675delinsAGTGT (p.Glu1224=) c.785-750_785-746delinsAGTGT (n.785-750_785-746delinsAGTGT) c.647-750_647-746delinsAGTGT (n.647-750_647-746delinsAGTGT) c.2861_2865delinsAGTGT (p.Glu954=) c.3626_3630delinsAGTGT (p.Glu1209=) c.3608_3612delinsAGTGT (p.Glu1203=) c.665-750_665-746delinsAGTGT (n.665-750_665-746delinsAGTGT) c.707-750_707-746delinsAGTGT (n.707-750_707-746delinsAGTGT) c.70_74delinsAGTGT c.671-750_671-746delinsAGTGT (n.671-750_671-746delinsAGTGT) c.*3532_*3536delinsAGTGT (n.*3532_*3536delinsAGTGT) c.43_47delinsAGTGT c.788-750_788-746delinsAGTGT (n.788-750_788-746delinsAGTGT) c.410-750_410-746delinsAGTGT (n.410-750_410-746delinsAGTGT) c.413-750_413-746delinsAGTGT (n.413-750_413-746delinsAGTGT) c.5-27831_5-27827delinsAGTGT (n.5-27831_5-27827delinsAGTGT) c.-43-17261_-43-17257delinsAGTGT (n.-43-17261_-43-17257delinsAGTGT) c.-99+33489_-99+33493delinsAGTGT (n.-99+33489_-99+33493delinsAGTGT) n.3885_3889delinsAGTGT n.3926_3930delinsAGTGT | |
17 | g.43091780_43091783del | CA1139665614 | BRCA1 | n.3813_3816del c.3749_3752del (p.Glu1250ValfsTer13) c.3623_3626del (p.Glu1208ValfsTer13) c.3746_3749del (p.Glu1249ValfsTer13) c.3671_3674del (p.Glu1224ValfsTer13) c.785-750_785-747del (n.785-750_785-747del) c.647-750_647-747del (n.647-750_647-747del) c.2861_2864del (p.Glu954ValfsTer13) c.3626_3629del (p.Glu1209ValfsTer13) c.3608_3611del (p.Glu1203ValfsTer13) c.665-750_665-747del (n.665-750_665-747del) c.707-750_707-747del (n.707-750_707-747del) c.70_73del c.671-750_671-747del (n.671-750_671-747del) c.*3532_*3535del (n.*3532_*3535del) c.43_46del c.788-750_788-747del (n.788-750_788-747del) c.410-750_410-747del (n.410-750_410-747del) c.413-750_413-747del (n.413-750_413-747del) c.5-27831_5-27828del (n.5-27831_5-27828del) c.-43-17261_-43-17258del (n.-43-17261_-43-17258del) c.-99+33489_-99+33492del (n.-99+33489_-99+33492del) n.3885_3888del n.3926_3929del | ClinVar dbSNP |
17 | g.43091780A= | CA2260782279 | BRCA1 | n.3815T= c.3751T= (p.Cys1251=) c.3625T= (p.Cys1209=) c.3748T= (p.Cys1250=) c.3673T= (p.Cys1225=) c.785-748T= (n.785-748T=) c.647-748T= (n.647-748T=) c.2863T= (p.Cys955=) c.3628T= (p.Cys1210=) c.3610T= (p.Cys1204=) c.665-748T= (n.665-748T=) c.707-748T= (n.707-748T=) c.72T= c.671-748T= (n.671-748T=) c.*3534T= (n.*3534T=) c.45T= c.788-748T= (n.788-748T=) c.410-748T= (n.410-748T=) c.413-748T= (n.413-748T=) c.5-27829T= (n.5-27829T=) c.-43-17259T= (n.-43-17259T=) c.-99+33491T= (n.-99+33491T=) n.3887T= n.3928T= | |
17 | g.43091780A>C | CA10594469 | BRCA1 | n.3815T>G c.3751T>G (p.Cys1251Gly) c.3625T>G (p.Cys1209Gly) c.3748T>G (p.Cys1250Gly) c.3673T>G (p.Cys1225Gly) c.785-748T>G (n.785-748T>G) c.647-748T>G (n.647-748T>G) c.2863T>G (p.Cys955Gly) c.3628T>G (p.Cys1210Gly) c.3610T>G (p.Cys1204Gly) c.665-748T>G (n.665-748T>G) c.707-748T>G (n.707-748T>G) c.72T>G c.671-748T>G (n.671-748T>G) c.*3534T>G (n.*3534T>G) c.45T>G c.788-748T>G (n.788-748T>G) c.410-748T>G (n.410-748T>G) c.413-748T>G (n.413-748T>G) c.5-27829T>G (n.5-27829T>G) c.-43-17259T>G (n.-43-17259T>G) c.-99+33491T>G (n.-99+33491T>G) n.3887T>G n.3928T>G | dbSNP |
17 | g.43091780A>G | CA059212 | BRCA1 | n.3815T>C c.3751T>C (p.Cys1251Arg) c.3625T>C (p.Cys1209Arg) c.3748T>C (p.Cys1250Arg) c.3673T>C (p.Cys1225Arg) c.785-748T>C (n.785-748T>C) c.647-748T>C (n.647-748T>C) c.2863T>C (p.Cys955Arg) c.3628T>C (p.Cys1210Arg) c.3610T>C (p.Cys1204Arg) c.665-748T>C (n.665-748T>C) c.707-748T>C (n.707-748T>C) c.72T>C c.671-748T>C (n.671-748T>C) c.*3534T>C (n.*3534T>C) c.45T>C c.788-748T>C (n.788-748T>C) c.410-748T>C (n.410-748T>C) c.413-748T>C (n.413-748T>C) c.5-27829T>C (n.5-27829T>C) c.-43-17259T>C (n.-43-17259T>C) c.-99+33491T>C (n.-99+33491T>C) n.3887T>C n.3928T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43091780A>T | CA10594470 | BRCA1 | n.3815T>A c.3751T>A (p.Cys1251Ser) c.3625T>A (p.Cys1209Ser) c.3748T>A (p.Cys1250Ser) c.3673T>A (p.Cys1225Ser) c.785-748T>A (n.785-748T>A) c.647-748T>A (n.647-748T>A) c.2863T>A (p.Cys955Ser) c.3628T>A (p.Cys1210Ser) c.3610T>A (p.Cys1204Ser) c.665-748T>A (n.665-748T>A) c.707-748T>A (n.707-748T>A) c.72T>A c.671-748T>A (n.671-748T>A) c.*3534T>A (n.*3534T>A) c.45T>A c.788-748T>A (n.788-748T>A) c.410-748T>A (n.410-748T>A) c.413-748T>A (n.413-748T>A) c.5-27829T>A (n.5-27829T>A) c.-43-17259T>A (n.-43-17259T>A) c.-99+33491T>A (n.-99+33491T>A) n.3887T>A n.3928T>A | dbSNP |
17 | g.43091780dup | CA658761216 | BRCA1 | n.3815dup c.3751dup (p.Cys1251LeufsTer4) c.3625dup (p.Cys1209LeufsTer4) c.3748dup (p.Cys1250LeufsTer4) c.3673dup (p.Cys1225LeufsTer4) c.785-748dup (n.785-748dup) c.647-748dup (n.647-748dup) c.2863dup (p.Cys955LeufsTer4) c.3628dup (p.Cys1210LeufsTer4) c.3610dup (p.Cys1204LeufsTer4) c.665-748dup (n.665-748dup) c.707-748dup (n.707-748dup) c.72dup c.671-748dup (n.671-748dup) c.*3534dup (n.*3534dup) c.45dup c.788-748dup (n.788-748dup) c.410-748dup (n.410-748dup) c.413-748dup (n.413-748dup) c.5-27829dup (n.5-27829dup) c.-43-17259dup (n.-43-17259dup) c.-99+33491dup (n.-99+33491dup) n.3887dup n.3928dup | |
17 | g.43091780_43091781delinsAC | CA2260782280 | BRCA1 | n.3814_3815delinsGT c.3750_3751delinsGT (p.Glu1250=) c.3624_3625delinsGT (p.Glu1208=) c.3747_3748delinsGT (p.Glu1249=) c.3672_3673delinsGT (p.Glu1224=) c.785-749_785-748delinsGT (n.785-749_785-748delinsGT) c.647-749_647-748delinsGT (n.647-749_647-748delinsGT) c.2862_2863delinsGT (p.Glu954=) c.3627_3628delinsGT (p.Glu1209=) c.3609_3610delinsGT (p.Glu1203=) c.665-749_665-748delinsGT (n.665-749_665-748delinsGT) c.707-749_707-748delinsGT (n.707-749_707-748delinsGT) c.71_72delinsGT c.671-749_671-748delinsGT (n.671-749_671-748delinsGT) c.*3533_*3534delinsGT (n.*3533_*3534delinsGT) c.44_45delinsGT c.788-749_788-748delinsGT (n.788-749_788-748delinsGT) c.410-749_410-748delinsGT (n.410-749_410-748delinsGT) c.413-749_413-748delinsGT (n.413-749_413-748delinsGT) c.5-27830_5-27829delinsGT (n.5-27830_5-27829delinsGT) c.-43-17260_-43-17259delinsGT (n.-43-17260_-43-17259delinsGT) c.-99+33490_-99+33491delinsGT (n.-99+33490_-99+33491delinsGT) n.3886_3887delinsGT n.3927_3928delinsGT | |
17 | g.43091781del | CA10589726 | BRCA1 | n.3814del c.3750del (p.Glu1250AspfsTer14) c.3624del (p.Glu1208AspfsTer14) c.3747del (p.Glu1249AspfsTer14) c.3672del (p.Glu1224AspfsTer14) c.785-749del (n.785-749del) c.647-749del (n.647-749del) c.2862del (p.Glu954AspfsTer14) c.3627del (p.Glu1209AspfsTer14) c.3609del (p.Glu1203AspfsTer14) c.665-749del (n.665-749del) c.707-749del (n.707-749del) c.71del c.671-749del (n.671-749del) c.*3533del (n.*3533del) c.44del c.788-749del (n.788-749del) c.410-749del (n.410-749del) c.413-749del (n.413-749del) c.5-27830del (n.5-27830del) c.-43-17260del (n.-43-17260del) c.-99+33490del (n.-99+33490del) n.3886del n.3927del | ClinVar dbSNP |
17 | g.43091781C>A | CA10594471 | BRCA1 | n.3814G>T c.3750G>T (p.Glu1250Asp) c.3624G>T (p.Glu1208Asp) c.3747G>T (p.Glu1249Asp) c.3672G>T (p.Glu1224Asp) c.785-749G>T (n.785-749G>T) c.647-749G>T (n.647-749G>T) c.2862G>T (p.Glu954Asp) c.3627G>T (p.Glu1209Asp) c.3609G>T (p.Glu1203Asp) c.665-749G>T (n.665-749G>T) c.707-749G>T (n.707-749G>T) c.71G>T c.671-749G>T (n.671-749G>T) c.*3533G>T (n.*3533G>T) c.44G>T c.788-749G>T (n.788-749G>T) c.410-749G>T (n.410-749G>T) c.413-749G>T (n.413-749G>T) c.5-27830G>T (n.5-27830G>T) c.-43-17260G>T (n.-43-17260G>T) c.-99+33490G>T (n.-99+33490G>T) n.3886G>T n.3927G>T | ClinVar dbSNP |
17 | g.43091781C= | CA2260782281 | BRCA1 | n.3814G= c.3750G= (p.Glu1250=) c.3624G= (p.Glu1208=) c.3747G= (p.Glu1249=) c.3672G= (p.Glu1224=) c.785-749G= (n.785-749G=) c.647-749G= (n.647-749G=) c.2862G= (p.Glu954=) c.3627G= (p.Glu1209=) c.3609G= (p.Glu1203=) c.665-749G= (n.665-749G=) c.707-749G= (n.707-749G=) c.71G= c.671-749G= (n.671-749G=) c.*3533G= (n.*3533G=) c.44G= c.788-749G= (n.788-749G=) c.410-749G= (n.410-749G=) c.413-749G= (n.413-749G=) c.5-27830G= (n.5-27830G=) c.-43-17260G= (n.-43-17260G=) c.-99+33490G= (n.-99+33490G=) n.3886G= n.3927G= | |
17 | g.43091781C>G | CA002403 | BRCA1 | n.3814G>C c.3750G>C (p.Glu1250Asp) c.3624G>C (p.Glu1208Asp) c.3747G>C (p.Glu1249Asp) c.3672G>C (p.Glu1224Asp) c.785-749G>C (n.785-749G>C) c.647-749G>C (n.647-749G>C) c.2862G>C (p.Glu954Asp) c.3627G>C (p.Glu1209Asp) c.3609G>C (p.Glu1203Asp) c.665-749G>C (n.665-749G>C) c.707-749G>C (n.707-749G>C) c.71G>C c.671-749G>C (n.671-749G>C) c.*3533G>C (n.*3533G>C) c.44G>C c.788-749G>C (n.788-749G>C) c.410-749G>C (n.410-749G>C) c.413-749G>C (n.413-749G>C) c.5-27830G>C (n.5-27830G>C) c.-43-17260G>C (n.-43-17260G>C) c.-99+33490G>C (n.-99+33490G>C) n.3886G>C n.3927G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43091781C>T | CA10580551 | BRCA1 | n.3814G>A c.3750G>A (p.Glu1250=) c.3624G>A (p.Glu1208=) c.3747G>A (p.Glu1249=) c.3672G>A (p.Glu1224=) c.785-749G>A (n.785-749G>A) c.647-749G>A (n.647-749G>A) c.2862G>A (p.Glu954=) c.3627G>A (p.Glu1209=) c.3609G>A (p.Glu1203=) c.665-749G>A (n.665-749G>A) c.707-749G>A (n.707-749G>A) c.71G>A c.671-749G>A (n.671-749G>A) c.*3533G>A (n.*3533G>A) c.44G>A c.788-749G>A (n.788-749G>A) c.410-749G>A (n.410-749G>A) c.413-749G>A (n.413-749G>A) c.5-27830G>A (n.5-27830G>A) c.-43-17260G>A (n.-43-17260G>A) c.-99+33490G>A (n.-99+33490G>A) n.3886G>A n.3927G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43091782T>A | CA10594472 | BRCA1 | n.3813A>T c.3749A>T (p.Glu1250Val) c.3623A>T (p.Glu1208Val) c.3746A>T (p.Glu1249Val) c.3671A>T (p.Glu1224Val) c.785-750A>T (n.785-750A>T) c.647-750A>T (n.647-750A>T) c.2861A>T (p.Glu954Val) c.3626A>T (p.Glu1209Val) c.3608A>T (p.Glu1203Val) c.665-750A>T (n.665-750A>T) c.707-750A>T (n.707-750A>T) c.70A>T c.671-750A>T (n.671-750A>T) c.*3532A>T (n.*3532A>T) c.43A>T c.788-750A>T (n.788-750A>T) c.410-750A>T (n.410-750A>T) c.413-750A>T (n.413-750A>T) c.5-27831A>T (n.5-27831A>T) c.-43-17261A>T (n.-43-17261A>T) c.-99+33489A>T (n.-99+33489A>T) n.3885A>T n.3926A>T | dbSNP |
17 | g.43091782T>C | CA10594473 | BRCA1 | n.3813A>G c.3749A>G (p.Glu1250Gly) c.3623A>G (p.Glu1208Gly) c.3746A>G (p.Glu1249Gly) c.3671A>G (p.Glu1224Gly) c.785-750A>G (n.785-750A>G) c.647-750A>G (n.647-750A>G) c.2861A>G (p.Glu954Gly) c.3626A>G (p.Glu1209Gly) c.3608A>G (p.Glu1203Gly) c.665-750A>G (n.665-750A>G) c.707-750A>G (n.707-750A>G) c.70A>G c.671-750A>G (n.671-750A>G) c.*3532A>G (n.*3532A>G) c.43A>G c.788-750A>G (n.788-750A>G) c.410-750A>G (n.410-750A>G) c.413-750A>G (n.413-750A>G) c.5-27831A>G (n.5-27831A>G) c.-43-17261A>G (n.-43-17261A>G) c.-99+33489A>G (n.-99+33489A>G) n.3885A>G n.3926A>G | |
17 | g.43091782T>G | CA10594474 | BRCA1 | n.3813A>C c.3749A>C (p.Glu1250Ala) c.3623A>C (p.Glu1208Ala) c.3746A>C (p.Glu1249Ala) c.3671A>C (p.Glu1224Ala) c.785-750A>C (n.785-750A>C) c.647-750A>C (n.647-750A>C) c.2861A>C (p.Glu954Ala) c.3626A>C (p.Glu1209Ala) c.3608A>C (p.Glu1203Ala) c.665-750A>C (n.665-750A>C) c.707-750A>C (n.707-750A>C) c.70A>C c.671-750A>C (n.671-750A>C) c.*3532A>C (n.*3532A>C) c.43A>C c.788-750A>C (n.788-750A>C) c.410-750A>C (n.410-750A>C) c.413-750A>C (n.413-750A>C) c.5-27831A>C (n.5-27831A>C) c.-43-17261A>C (n.-43-17261A>C) c.-99+33489A>C (n.-99+33489A>C) n.3885A>C n.3926A>C | |
17 | g.43091782T= | CA2260782282 | BRCA1 | n.3813A= c.3749A= (p.Glu1250=) c.3623A= (p.Glu1208=) c.3746A= (p.Glu1249=) c.3671A= (p.Glu1224=) c.785-750A= (n.785-750A=) c.647-750A= (n.647-750A=) c.2861A= (p.Glu954=) c.3626A= (p.Glu1209=) c.3608A= (p.Glu1203=) c.665-750A= (n.665-750A=) c.707-750A= (n.707-750A=) c.70A= c.671-750A= (n.671-750A=) c.*3532A= (n.*3532A=) c.43A= c.788-750A= (n.788-750A=) c.410-750A= (n.410-750A=) c.413-750A= (n.413-750A=) c.5-27831A= (n.5-27831A=) c.-43-17261A= (n.-43-17261A=) c.-99+33489A= (n.-99+33489A=) n.3885A= n.3926A= | |
17 | g.43091782_43091783insG | CA658823947 | BRCA1 | n.3812_3813insC c.3748_3749insC (p.Glu1250AlafsTer5) c.3622_3623insC (p.Glu1208AlafsTer5) c.3745_3746insC (p.Glu1249AlafsTer5) c.3670_3671insC (p.Glu1224AlafsTer5) c.785-751_785-750insC (n.785-751_785-750insC) c.647-751_647-750insC (n.647-751_647-750insC) c.2860_2861insC (p.Glu954AlafsTer5) c.3625_3626insC (p.Glu1209AlafsTer5) c.3607_3608insC (p.Glu1203AlafsTer5) c.665-751_665-750insC (n.665-751_665-750insC) c.707-751_707-750insC (n.707-751_707-750insC) c.69_70insC c.671-751_671-750insC (n.671-751_671-750insC) c.*3531_*3532insC (n.*3531_*3532insC) c.42_43insC c.788-751_788-750insC (n.788-751_788-750insC) c.410-751_410-750insC (n.410-751_410-750insC) c.413-751_413-750insC (n.413-751_413-750insC) c.5-27832_5-27831insC (n.5-27832_5-27831insC) c.-43-17262_-43-17261insC (n.-43-17262_-43-17261insC) c.-99+33488_-99+33489insC (n.-99+33488_-99+33489insC) n.3884_3885insC n.3925_3926insC | ClinVar dbSNP |
17 | g.43091783C>A | CA002402 | BRCA1 | n.3812G>T c.3748G>T (p.Glu1250Ter) c.3622G>T (p.Glu1208Ter) c.3745G>T (p.Glu1249Ter) c.3670G>T (p.Glu1224Ter) c.785-751G>T (n.785-751G>T) c.647-751G>T (n.647-751G>T) c.2860G>T (p.Glu954Ter) c.3625G>T (p.Glu1209Ter) c.3607G>T (p.Glu1203Ter) c.665-751G>T (n.665-751G>T) c.707-751G>T (n.707-751G>T) c.69G>T c.671-751G>T (n.671-751G>T) c.*3531G>T (n.*3531G>T) c.42G>T c.788-751G>T (n.788-751G>T) c.410-751G>T (n.410-751G>T) c.413-751G>T (n.413-751G>T) c.5-27832G>T (n.5-27832G>T) c.-43-17262G>T (n.-43-17262G>T) c.-99+33488G>T (n.-99+33488G>T) n.3884G>T n.3925G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43091783C= | CA2260782283 | BRCA1 | n.3812G= c.3748G= (p.Glu1250=) c.3622G= (p.Glu1208=) c.3745G= (p.Glu1249=) c.3670G= (p.Glu1224=) c.785-751G= (n.785-751G=) c.647-751G= (n.647-751G=) c.2860G= (p.Glu954=) c.3625G= (p.Glu1209=) c.3607G= (p.Glu1203=) c.665-751G= (n.665-751G=) c.707-751G= (n.707-751G=) c.69G= c.671-751G= (n.671-751G=) c.*3531G= (n.*3531G=) c.42G= c.788-751G= (n.788-751G=) c.410-751G= (n.410-751G=) c.413-751G= (n.413-751G=) c.5-27832G= (n.5-27832G=) c.-43-17262G= (n.-43-17262G=) c.-99+33488G= (n.-99+33488G=) n.3884G= n.3925G= | |
17 | g.43091783C>G | CA10594475 | BRCA1 | n.3812G>C c.3748G>C (p.Glu1250Gln) c.3622G>C (p.Glu1208Gln) c.3745G>C (p.Glu1249Gln) c.3670G>C (p.Glu1224Gln) c.785-751G>C (n.785-751G>C) c.647-751G>C (n.647-751G>C) c.2860G>C (p.Glu954Gln) c.3625G>C (p.Glu1209Gln) c.3607G>C (p.Glu1203Gln) c.665-751G>C (n.665-751G>C) c.707-751G>C (n.707-751G>C) c.69G>C c.671-751G>C (n.671-751G>C) c.*3531G>C (n.*3531G>C) c.42G>C c.788-751G>C (n.788-751G>C) c.410-751G>C (n.410-751G>C) c.413-751G>C (n.413-751G>C) c.5-27832G>C (n.5-27832G>C) c.-43-17262G>C (n.-43-17262G>C) c.-99+33488G>C (n.-99+33488G>C) n.3884G>C n.3925G>C | dbSNP gnomAD v4 |
17 | g.43091783C>T | CA002401 | BRCA1 | n.3812G>A c.3748G>A (p.Glu1250Lys) c.3622G>A (p.Glu1208Lys) c.3745G>A (p.Glu1249Lys) c.3670G>A (p.Glu1224Lys) c.785-751G>A (n.785-751G>A) c.647-751G>A (n.647-751G>A) c.2860G>A (p.Glu954Lys) c.3625G>A (p.Glu1209Lys) c.3607G>A (p.Glu1203Lys) c.665-751G>A (n.665-751G>A) c.707-751G>A (n.707-751G>A) c.69G>A c.671-751G>A (n.671-751G>A) c.*3531G>A (n.*3531G>A) c.42G>A c.788-751G>A (n.788-751G>A) c.410-751G>A (n.410-751G>A) c.413-751G>A (n.413-751G>A) c.5-27832G>A (n.5-27832G>A) c.-43-17262G>A (n.-43-17262G>A) c.-99+33488G>A (n.-99+33488G>A) n.3884G>A n.3925G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
17 | g.43091783_43091817delinsCGGTAGCAACGGTGCTATGCCTAGTAGACTGAGAA | CA2260782284 | BRCA1 | n.3778_3812delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG c.3714_3748delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG (p.Pro1238=) c.3588_3622delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG (p.Pro1196=) c.3711_3745delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG (p.Pro1237=) c.3636_3670delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG (p.Pro1212=) c.785-785_785-751delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG (n.785-785_785-751delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG) c.647-785_647-751delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG (n.647-785_647-751delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG) c.2826_2860delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG (p.Pro942=) c.3591_3625delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG (p.Pro1197=) c.3573_3607delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG (p.Pro1191=) c.665-785_665-751delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG (n.665-785_665-751delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG) c.707-785_707-751delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG (n.707-785_707-751delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG) c.35_69delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG c.671-785_671-751delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG (n.671-785_671-751delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG) c.*3497_*3531delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG (n.*3497_*3531delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG) c.8_42delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG c.788-785_788-751delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG (n.788-785_788-751delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG) c.410-785_410-751delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG (n.410-785_410-751delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG) c.413-785_413-751delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG (n.413-785_413-751delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG) c.5-27866_5-27832delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG (n.5-27866_5-27832delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG) c.-43-17296_-43-17262delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG (n.-43-17296_-43-17262delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG) c.-99+33454_-99+33488delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG (n.-99+33454_-99+33488delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG) n.3850_3884delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG n.3891_3925delinsTTCTCAGTCTACTAGGCATAGCACCGTTGCTACCG | |
17 | g.43091784G>A | CA002400 | BRCA1 | n.3811C>T c.3747C>T (p.Thr1249=) c.3621C>T (p.Thr1207=) c.3744C>T (p.Thr1248=) c.3669C>T (p.Thr1223=) c.785-752C>T (n.785-752C>T) c.647-752C>T (n.647-752C>T) c.2859C>T (p.Thr953=) c.3624C>T (p.Thr1208=) c.3606C>T (p.Thr1202=) c.665-752C>T (n.665-752C>T) c.707-752C>T (n.707-752C>T) c.68C>T c.671-752C>T (n.671-752C>T) c.*3530C>T (n.*3530C>T) c.41C>T c.788-752C>T (n.788-752C>T) c.410-752C>T (n.410-752C>T) c.413-752C>T (n.413-752C>T) c.5-27833C>T (n.5-27833C>T) c.-43-17263C>T (n.-43-17263C>T) c.-99+33487C>T (n.-99+33487C>T) n.3883C>T n.3924C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43091784G>C | CA500232239 | BRCA1 | n.3811C>G c.3747C>G (p.Thr1249=) c.3621C>G (p.Thr1207=) c.3744C>G (p.Thr1248=) c.3669C>G (p.Thr1223=) c.785-752C>G (n.785-752C>G) c.647-752C>G (n.647-752C>G) c.2859C>G (p.Thr953=) c.3624C>G (p.Thr1208=) c.3606C>G (p.Thr1202=) c.665-752C>G (n.665-752C>G) c.707-752C>G (n.707-752C>G) c.68C>G c.671-752C>G (n.671-752C>G) c.*3530C>G (n.*3530C>G) c.41C>G c.788-752C>G (n.788-752C>G) c.410-752C>G (n.410-752C>G) c.413-752C>G (n.413-752C>G) c.5-27833C>G (n.5-27833C>G) c.-43-17263C>G (n.-43-17263C>G) c.-99+33487C>G (n.-99+33487C>G) n.3883C>G n.3924C>G | ClinVar dbSNP |
17 | g.43091784G= | CA2260782285 | BRCA1 | n.3811C= c.3747C= (p.Thr1249=) c.3621C= (p.Thr1207=) c.3744C= (p.Thr1248=) c.3669C= (p.Thr1223=) c.785-752C= (n.785-752C=) c.647-752C= (n.647-752C=) c.2859C= (p.Thr953=) c.3624C= (p.Thr1208=) c.3606C= (p.Thr1202=) c.665-752C= (n.665-752C=) c.707-752C= (n.707-752C=) c.68C= c.671-752C= (n.671-752C=) c.*3530C= (n.*3530C=) c.41C= c.788-752C= (n.788-752C=) c.410-752C= (n.410-752C=) c.413-752C= (n.413-752C=) c.5-27833C= (n.5-27833C=) c.-43-17263C= (n.-43-17263C=) c.-99+33487C= (n.-99+33487C=) n.3883C= n.3924C= | |
17 | g.43091784G>T | CA290834605 | BRCA1 | n.3811C>A c.3747C>A (p.Thr1249=) c.3621C>A (p.Thr1207=) c.3744C>A (p.Thr1248=) c.3669C>A (p.Thr1223=) c.785-752C>A (n.785-752C>A) c.647-752C>A (n.647-752C>A) c.2859C>A (p.Thr953=) c.3624C>A (p.Thr1208=) c.3606C>A (p.Thr1202=) c.665-752C>A (n.665-752C>A) c.707-752C>A (n.707-752C>A) c.68C>A c.671-752C>A (n.671-752C>A) c.*3530C>A (n.*3530C>A) c.41C>A c.788-752C>A (n.788-752C>A) c.410-752C>A (n.410-752C>A) c.413-752C>A (n.413-752C>A) c.5-27833C>A (n.5-27833C>A) c.-43-17263C>A (n.-43-17263C>A) c.-99+33487C>A (n.-99+33487C>A) n.3883C>A n.3924C>A | ClinVar dbSNP gnomAD v4 |
17 | g.43091785dup | CA645373175 | BRCA1 | n.3811dup c.3747dup (p.Glu1250ArgfsTer5) c.3621dup (p.Glu1208ArgfsTer5) c.3744dup (p.Glu1249ArgfsTer5) c.3669dup (p.Glu1224ArgfsTer5) c.785-752dup (n.785-752dup) c.647-752dup (n.647-752dup) c.2859dup (p.Glu954ArgfsTer5) c.3624dup (p.Glu1209ArgfsTer5) c.3606dup (p.Glu1203ArgfsTer5) c.665-752dup (n.665-752dup) c.707-752dup (n.707-752dup) c.68dup c.671-752dup (n.671-752dup) c.*3530dup (n.*3530dup) c.41dup c.788-752dup (n.788-752dup) c.410-752dup (n.410-752dup) c.413-752dup (n.413-752dup) c.5-27833dup (n.5-27833dup) c.-43-17263dup (n.-43-17263dup) c.-99+33487dup (n.-99+33487dup) n.3883dup n.3924dup | ClinVar dbSNP |
17 | g.43091788_43091821del | CA10586619 | BRCA1 | n.3778_3811del c.3714_3747del (p.Gln1240ValfsTer13) c.3588_3621del (p.Gln1198ValfsTer13) c.3711_3744del (p.Gln1239ValfsTer13) c.3636_3669del (p.Gln1214ValfsTer13) c.785-785_785-752del (n.785-785_785-752del) c.647-785_647-752del (n.647-785_647-752del) c.2826_2859del (p.Gln944ValfsTer13) c.3591_3624del (p.Gln1199ValfsTer13) c.3573_3606del (p.Gln1193ValfsTer13) c.665-785_665-752del (n.665-785_665-752del) c.707-785_707-752del (n.707-785_707-752del) c.35_68del c.671-785_671-752del (n.671-785_671-752del) c.*3497_*3530del (n.*3497_*3530del) c.8_41del c.788-785_788-752del (n.788-785_788-752del) c.410-785_410-752del (n.410-785_410-752del) c.413-785_413-752del (n.413-785_413-752del) c.5-27866_5-27833del (n.5-27866_5-27833del) c.-43-17296_-43-17263del (n.-43-17296_-43-17263del) c.-99+33454_-99+33487del (n.-99+33454_-99+33487del) n.3850_3883del n.3891_3924del | ClinVar dbSNP |
17 | g.43091784_43091826dup | CA274940 | BRCA1 | n.3769_3811dup c.3705_3747dup (p.Glu1250GlnfsTer8) c.3579_3621dup (p.Glu1208GlnfsTer8) c.3702_3744dup (p.Glu1249GlnfsTer8) c.3627_3669dup (p.Glu1224GlnfsTer8) c.785-794_785-752dup (n.785-794_785-752dup) c.647-794_647-752dup (n.647-794_647-752dup) c.2817_2859dup (p.Glu954GlnfsTer8) c.3582_3624dup (p.Glu1209GlnfsTer8) c.3564_3606dup (p.Glu1203GlnfsTer8) c.665-794_665-752dup (n.665-794_665-752dup) c.707-794_707-752dup (n.707-794_707-752dup) c.26_68dup c.671-794_671-752dup (n.671-794_671-752dup) c.*3488_*3530dup (n.*3488_*3530dup) c.788-794_788-752dup (n.788-794_788-752dup) c.410-794_410-752dup (n.410-794_410-752dup) c.413-794_413-752dup (n.413-794_413-752dup) c.5-27875_5-27833dup (n.5-27875_5-27833dup) c.-43-17305_-43-17263dup (n.-43-17305_-43-17263dup) c.-99+33445_-99+33487dup (n.-99+33445_-99+33487dup) n.3841_3883dup n.3882_3924dup | ClinVar dbSNP |
17 | g.43091785G>A | CA10594476 | BRCA1 | n.3810C>T c.3746C>T (p.Thr1249Ile) c.3620C>T (p.Thr1207Ile) c.3743C>T (p.Thr1248Ile) c.3668C>T (p.Thr1223Ile) c.785-753C>T (n.785-753C>T) c.647-753C>T (n.647-753C>T) c.2858C>T (p.Thr953Ile) c.3623C>T (p.Thr1208Ile) c.3605C>T (p.Thr1202Ile) c.665-753C>T (n.665-753C>T) c.707-753C>T (n.707-753C>T) c.67C>T c.671-753C>T (n.671-753C>T) c.*3529C>T (n.*3529C>T) c.40C>T c.788-753C>T (n.788-753C>T) c.410-753C>T (n.410-753C>T) c.413-753C>T (n.413-753C>T) c.5-27834C>T (n.5-27834C>T) c.-43-17264C>T (n.-43-17264C>T) c.-99+33486C>T (n.-99+33486C>T) n.3882C>T n.3923C>T | dbSNP gnomAD v4 |
17 | g.43091785G>C | CA002399 | BRCA1 | n.3810C>G c.3746C>G (p.Thr1249Ser) c.3620C>G (p.Thr1207Ser) c.3743C>G (p.Thr1248Ser) c.3668C>G (p.Thr1223Ser) c.785-753C>G (n.785-753C>G) c.647-753C>G (n.647-753C>G) c.2858C>G (p.Thr953Ser) c.3623C>G (p.Thr1208Ser) c.3605C>G (p.Thr1202Ser) c.665-753C>G (n.665-753C>G) c.707-753C>G (n.707-753C>G) c.67C>G c.671-753C>G (n.671-753C>G) c.*3529C>G (n.*3529C>G) c.40C>G c.788-753C>G (n.788-753C>G) c.410-753C>G (n.410-753C>G) c.413-753C>G (n.413-753C>G) c.5-27834C>G (n.5-27834C>G) c.-43-17264C>G (n.-43-17264C>G) c.-99+33486C>G (n.-99+33486C>G) n.3882C>G n.3923C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43091785G= | CA2260782286 | BRCA1 | n.3810C= c.3746C= (p.Thr1249=) c.3620C= (p.Thr1207=) c.3743C= (p.Thr1248=) c.3668C= (p.Thr1223=) c.785-753C= (n.785-753C=) c.647-753C= (n.647-753C=) c.2858C= (p.Thr953=) c.3623C= (p.Thr1208=) c.3605C= (p.Thr1202=) c.665-753C= (n.665-753C=) c.707-753C= (n.707-753C=) c.67C= c.671-753C= (n.671-753C=) c.*3529C= (n.*3529C=) c.40C= c.788-753C= (n.788-753C=) c.410-753C= (n.410-753C=) c.413-753C= (n.413-753C=) c.5-27834C= (n.5-27834C=) c.-43-17264C= (n.-43-17264C=) c.-99+33486C= (n.-99+33486C=) n.3882C= n.3923C= | |
17 | g.43091785G>T | CA10594477 | BRCA1 | n.3810C>A c.3746C>A (p.Thr1249Asn) c.3620C>A (p.Thr1207Asn) c.3743C>A (p.Thr1248Asn) c.3668C>A (p.Thr1223Asn) c.785-753C>A (n.785-753C>A) c.647-753C>A (n.647-753C>A) c.2858C>A (p.Thr953Asn) c.3623C>A (p.Thr1208Asn) c.3605C>A (p.Thr1202Asn) c.665-753C>A (n.665-753C>A) c.707-753C>A (n.707-753C>A) c.67C>A c.671-753C>A (n.671-753C>A) c.*3529C>A (n.*3529C>A) c.40C>A c.788-753C>A (n.788-753C>A) c.410-753C>A (n.410-753C>A) c.413-753C>A (n.413-753C>A) c.5-27834C>A (n.5-27834C>A) c.-43-17264C>A (n.-43-17264C>A) c.-99+33486C>A (n.-99+33486C>A) n.3882C>A n.3923C>A | dbSNP |
17 | g.43091786T>A | CA10594478 | BRCA1 | n.3809A>T c.3745A>T (p.Thr1249Ser) c.3619A>T (p.Thr1207Ser) c.3742A>T (p.Thr1248Ser) c.3667A>T (p.Thr1223Ser) c.785-754A>T (n.785-754A>T) c.647-754A>T (n.647-754A>T) c.2857A>T (p.Thr953Ser) c.3622A>T (p.Thr1208Ser) c.3604A>T (p.Thr1202Ser) c.665-754A>T (n.665-754A>T) c.707-754A>T (n.707-754A>T) c.66A>T c.671-754A>T (n.671-754A>T) c.*3528A>T (n.*3528A>T) c.39A>T c.788-754A>T (n.788-754A>T) c.410-754A>T (n.410-754A>T) c.413-754A>T (n.413-754A>T) c.5-27835A>T (n.5-27835A>T) c.-43-17265A>T (n.-43-17265A>T) c.-99+33485A>T (n.-99+33485A>T) n.3881A>T n.3922A>T | dbSNP |
17 | g.43091786T>C | CA10594479 | BRCA1 | n.3809A>G c.3745A>G (p.Thr1249Ala) c.3619A>G (p.Thr1207Ala) c.3742A>G (p.Thr1248Ala) c.3667A>G (p.Thr1223Ala) c.785-754A>G (n.785-754A>G) c.647-754A>G (n.647-754A>G) c.2857A>G (p.Thr953Ala) c.3622A>G (p.Thr1208Ala) c.3604A>G (p.Thr1202Ala) c.665-754A>G (n.665-754A>G) c.707-754A>G (n.707-754A>G) c.66A>G c.671-754A>G (n.671-754A>G) c.*3528A>G (n.*3528A>G) c.39A>G c.788-754A>G (n.788-754A>G) c.410-754A>G (n.410-754A>G) c.413-754A>G (n.413-754A>G) c.5-27835A>G (n.5-27835A>G) c.-43-17265A>G (n.-43-17265A>G) c.-99+33485A>G (n.-99+33485A>G) n.3881A>G n.3922A>G | ClinVar dbSNP |
17 | g.43091786T>G | CA063315 | BRCA1 | n.3809A>C c.3745A>C (p.Thr1249Pro) c.3619A>C (p.Thr1207Pro) c.3742A>C (p.Thr1248Pro) c.3667A>C (p.Thr1223Pro) c.785-754A>C (n.785-754A>C) c.647-754A>C (n.647-754A>C) c.2857A>C (p.Thr953Pro) c.3622A>C (p.Thr1208Pro) c.3604A>C (p.Thr1202Pro) c.665-754A>C (n.665-754A>C) c.707-754A>C (n.707-754A>C) c.66A>C c.671-754A>C (n.671-754A>C) c.*3528A>C (n.*3528A>C) c.39A>C c.788-754A>C (n.788-754A>C) c.410-754A>C (n.410-754A>C) c.413-754A>C (n.413-754A>C) c.5-27835A>C (n.5-27835A>C) c.-43-17265A>C (n.-43-17265A>C) c.-99+33485A>C (n.-99+33485A>C) n.3881A>C n.3922A>C | dbSNP COSMIC COSMIC |
17 | g.43091786T= | CA2260782287 | BRCA1 | n.3809A= c.3745A= (p.Thr1249=) c.3619A= (p.Thr1207=) c.3742A= (p.Thr1248=) c.3667A= (p.Thr1223=) c.785-754A= (n.785-754A=) c.647-754A= (n.647-754A=) c.2857A= (p.Thr953=) c.3622A= (p.Thr1208=) c.3604A= (p.Thr1202=) c.665-754A= (n.665-754A=) c.707-754A= (n.707-754A=) c.66A= c.671-754A= (n.671-754A=) c.*3528A= (n.*3528A=) c.39A= c.788-754A= (n.788-754A=) c.410-754A= (n.410-754A=) c.413-754A= (n.413-754A=) c.5-27835A= (n.5-27835A=) c.-43-17265A= (n.-43-17265A=) c.-99+33485A= (n.-99+33485A=) n.3881A= n.3922A= |