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.43091760_43091762del | CA16042165 | BRCA1 | n.3836_3838del c.3772_3774del (p.Glu1258del) c.3646_3648del (p.Glu1216del) c.3769_3771del (p.Glu1257del) c.3694_3696del (p.Glu1232del) c.785-727_785-725del (n.785-727_785-725del) c.647-727_647-725del (n.647-727_647-725del) c.2884_2886del (p.Glu962del) c.3649_3651del (p.Glu1217del) c.3631_3633del (p.Glu1211del) c.665-727_665-725del (n.665-727_665-725del) c.707-727_707-725del (n.707-727_707-725del) c.93_95del c.671-727_671-725del (n.671-727_671-725del) c.*3555_*3557del (n.*3555_*3557del) c.66_68del c.788-727_788-725del (n.788-727_788-725del) c.410-727_410-725del (n.410-727_410-725del) c.413-727_413-725del (n.413-727_413-725del) c.5-27808_5-27806del (n.5-27808_5-27806del) c.-43-17238_-43-17236del (n.-43-17238_-43-17236del) c.-99+33512_-99+33514del (n.-99+33512_-99+33514del) n.3908_3910del n.3949_3951del | dbSNP gnomAD v4 |
17 | g.43091762_43091763del | CA002424 | BRCA1 | n.3834_3835del c.3770_3771del (p.Glu1257GlyfsTer9) c.3644_3645del (p.Glu1215GlyfsTer9) c.3767_3768del (p.Glu1256GlyfsTer9) c.3692_3693del (p.Glu1231GlyfsTer9) c.785-729_785-728del (n.785-729_785-728del) c.647-729_647-728del (n.647-729_647-728del) c.2882_2883del (p.Glu961GlyfsTer9) c.3647_3648del (p.Glu1216GlyfsTer9) c.3629_3630del (p.Glu1210GlyfsTer9) c.665-729_665-728del (n.665-729_665-728del) c.707-729_707-728del (n.707-729_707-728del) c.91_92del c.671-729_671-728del (n.671-729_671-728del) c.*3553_*3554del (n.*3553_*3554del) c.64_65del c.788-729_788-728del (n.788-729_788-728del) c.410-729_410-728del (n.410-729_410-728del) c.413-729_413-728del (n.413-729_413-728del) c.5-27810_5-27809del (n.5-27810_5-27809del) c.-43-17240_-43-17239del (n.-43-17240_-43-17239del) c.-99+33510_-99+33511del (n.-99+33510_-99+33511del) n.3906_3907del n.3947_3948del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43091761_43091763del | CA2580612623 | BRCA1 | n.3832_3834del c.3768_3770del (p.Glu1257del) c.3642_3644del (p.Glu1215del) c.3765_3767del (p.Glu1256del) c.3690_3692del (p.Glu1231del) c.785-731_785-729del (n.785-731_785-729del) c.647-731_647-729del (n.647-731_647-729del) c.2880_2882del (p.Glu961del) c.3645_3647del (p.Glu1216del) c.3627_3629del (p.Glu1210del) c.665-731_665-729del (n.665-731_665-729del) c.707-731_707-729del (n.707-731_707-729del) c.89_91del c.671-731_671-729del (n.671-731_671-729del) c.*3551_*3553del (n.*3551_*3553del) c.62_64del c.788-731_788-729del (n.788-731_788-729del) c.410-731_410-729del (n.410-731_410-729del) c.413-731_413-729del (n.413-731_413-729del) c.5-27812_5-27810del (n.5-27812_5-27810del) c.-43-17242_-43-17240del (n.-43-17242_-43-17240del) c.-99+33508_-99+33510del (n.-99+33508_-99+33510del) n.3904_3906del n.3945_3947del | |
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.43091762C>A | CA10594433 | BRCA1 | n.3833G>T c.3769G>T (p.Glu1257Ter) c.3643G>T (p.Glu1215Ter) c.3766G>T (p.Glu1256Ter) c.3691G>T (p.Glu1231Ter) c.785-730G>T (n.785-730G>T) c.647-730G>T (n.647-730G>T) c.2881G>T (p.Glu961Ter) c.3646G>T (p.Glu1216Ter) c.3628G>T (p.Glu1210Ter) c.665-730G>T (n.665-730G>T) c.707-730G>T (n.707-730G>T) c.90G>T c.671-730G>T (n.671-730G>T) c.*3552G>T (n.*3552G>T) c.63G>T c.788-730G>T (n.788-730G>T) c.410-730G>T (n.410-730G>T) c.413-730G>T (n.413-730G>T) c.5-27811G>T (n.5-27811G>T) c.-43-17241G>T (n.-43-17241G>T) c.-99+33509G>T (n.-99+33509G>T) n.3905G>T n.3946G>T | dbSNP |
17 | g.43091762C= | CA2260782250 | BRCA1 | n.3833G= c.3769G= (p.Glu1257=) c.3643G= (p.Glu1215=) c.3766G= (p.Glu1256=) c.3691G= (p.Glu1231=) c.785-730G= (n.785-730G=) c.647-730G= (n.647-730G=) c.2881G= (p.Glu961=) c.3646G= (p.Glu1216=) c.3628G= (p.Glu1210=) c.665-730G= (n.665-730G=) c.707-730G= (n.707-730G=) c.90G= c.671-730G= (n.671-730G=) c.*3552G= (n.*3552G=) c.63G= c.788-730G= (n.788-730G=) c.410-730G= (n.410-730G=) c.413-730G= (n.413-730G=) c.5-27811G= (n.5-27811G=) c.-43-17241G= (n.-43-17241G=) c.-99+33509G= (n.-99+33509G=) n.3905G= n.3946G= | |
17 | g.43091762C>G | CA10594434 | BRCA1 | n.3833G>C c.3769G>C (p.Glu1257Gln) c.3643G>C (p.Glu1215Gln) c.3766G>C (p.Glu1256Gln) c.3691G>C (p.Glu1231Gln) c.785-730G>C (n.785-730G>C) c.647-730G>C (n.647-730G>C) c.2881G>C (p.Glu961Gln) c.3646G>C (p.Glu1216Gln) c.3628G>C (p.Glu1210Gln) c.665-730G>C (n.665-730G>C) c.707-730G>C (n.707-730G>C) c.90G>C c.671-730G>C (n.671-730G>C) c.*3552G>C (n.*3552G>C) c.63G>C c.788-730G>C (n.788-730G>C) c.410-730G>C (n.410-730G>C) c.413-730G>C (n.413-730G>C) c.5-27811G>C (n.5-27811G>C) c.-43-17241G>C (n.-43-17241G>C) c.-99+33509G>C (n.-99+33509G>C) n.3905G>C n.3946G>C | dbSNP |
17 | g.43091762C>T | CA10594435 | BRCA1 | n.3833G>A c.3769G>A (p.Glu1257Lys) c.3643G>A (p.Glu1215Lys) c.3766G>A (p.Glu1256Lys) c.3691G>A (p.Glu1231Lys) c.785-730G>A (n.785-730G>A) c.647-730G>A (n.647-730G>A) c.2881G>A (p.Glu961Lys) c.3646G>A (p.Glu1216Lys) c.3628G>A (p.Glu1210Lys) c.665-730G>A (n.665-730G>A) c.707-730G>A (n.707-730G>A) c.90G>A c.671-730G>A (n.671-730G>A) c.*3552G>A (n.*3552G>A) c.63G>A c.788-730G>A (n.788-730G>A) c.410-730G>A (n.410-730G>A) c.413-730G>A (n.413-730G>A) c.5-27811G>A (n.5-27811G>A) c.-43-17241G>A (n.-43-17241G>A) c.-99+33509G>A (n.-99+33509G>A) n.3905G>A n.3946G>A | ClinVar dbSNP gnomAD v4 |
17 | g.43091762_43091764delinsCTG | CA2260782249 | BRCA1 | n.3831_3833delinsCAG c.3767_3769delinsCAG (p.Thr1256=) c.3641_3643delinsCAG (p.Thr1214=) c.3764_3766delinsCAG (p.Thr1255=) c.3689_3691delinsCAG (p.Thr1230=) c.785-732_785-730delinsCAG (n.785-732_785-730delinsCAG) c.647-732_647-730delinsCAG (n.647-732_647-730delinsCAG) c.2879_2881delinsCAG (p.Thr960=) c.3644_3646delinsCAG (p.Thr1215=) c.3626_3628delinsCAG (p.Thr1209=) c.665-732_665-730delinsCAG (n.665-732_665-730delinsCAG) c.707-732_707-730delinsCAG (n.707-732_707-730delinsCAG) c.88_90delinsCAG c.671-732_671-730delinsCAG (n.671-732_671-730delinsCAG) c.*3550_*3552delinsCAG (n.*3550_*3552delinsCAG) c.61_63delinsCAG c.788-732_788-730delinsCAG (n.788-732_788-730delinsCAG) c.410-732_410-730delinsCAG (n.410-732_410-730delinsCAG) c.413-732_413-730delinsCAG (n.413-732_413-730delinsCAG) c.5-27813_5-27811delinsCAG (n.5-27813_5-27811delinsCAG) c.-43-17243_-43-17241delinsCAG (n.-43-17243_-43-17241delinsCAG) c.-99+33507_-99+33509delinsCAG (n.-99+33507_-99+33509delinsCAG) n.3903_3905delinsCAG n.3944_3946delinsCAG | |
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.43091763T>A | CA500232214 | BRCA1 | n.3832A>T c.3768A>T (p.Thr1256=) c.3642A>T (p.Thr1214=) c.3765A>T (p.Thr1255=) c.3690A>T (p.Thr1230=) c.785-731A>T (n.785-731A>T) c.647-731A>T (n.647-731A>T) c.2880A>T (p.Thr960=) c.3645A>T (p.Thr1215=) c.3627A>T (p.Thr1209=) c.665-731A>T (n.665-731A>T) c.707-731A>T (n.707-731A>T) c.89A>T c.671-731A>T (n.671-731A>T) c.*3551A>T (n.*3551A>T) c.62A>T c.788-731A>T (n.788-731A>T) c.410-731A>T (n.410-731A>T) c.413-731A>T (n.413-731A>T) c.5-27812A>T (n.5-27812A>T) c.-43-17242A>T (n.-43-17242A>T) c.-99+33508A>T (n.-99+33508A>T) n.3904A>T n.3945A>T | dbSNP |
17 | g.43091763T>C | CA002423 | BRCA1 | n.3832A>G c.3768A>G (p.Thr1256=) c.3642A>G (p.Thr1214=) c.3765A>G (p.Thr1255=) c.3690A>G (p.Thr1230=) c.785-731A>G (n.785-731A>G) c.647-731A>G (n.647-731A>G) c.2880A>G (p.Thr960=) c.3645A>G (p.Thr1215=) c.3627A>G (p.Thr1209=) c.665-731A>G (n.665-731A>G) c.707-731A>G (n.707-731A>G) c.89A>G c.671-731A>G (n.671-731A>G) c.*3551A>G (n.*3551A>G) c.62A>G c.788-731A>G (n.788-731A>G) c.410-731A>G (n.410-731A>G) c.413-731A>G (n.413-731A>G) c.5-27812A>G (n.5-27812A>G) c.-43-17242A>G (n.-43-17242A>G) c.-99+33508A>G (n.-99+33508A>G) n.3904A>G n.3945A>G | ClinVar dbSNP gnomAD v4 |
17 | g.43091763T>G | CA500232215 | BRCA1 | n.3832A>C c.3768A>C (p.Thr1256=) c.3642A>C (p.Thr1214=) c.3765A>C (p.Thr1255=) c.3690A>C (p.Thr1230=) c.785-731A>C (n.785-731A>C) c.647-731A>C (n.647-731A>C) c.2880A>C (p.Thr960=) c.3645A>C (p.Thr1215=) c.3627A>C (p.Thr1209=) c.665-731A>C (n.665-731A>C) c.707-731A>C (n.707-731A>C) c.89A>C c.671-731A>C (n.671-731A>C) c.*3551A>C (n.*3551A>C) c.62A>C c.788-731A>C (n.788-731A>C) c.410-731A>C (n.410-731A>C) c.413-731A>C (n.413-731A>C) c.5-27812A>C (n.5-27812A>C) c.-43-17242A>C (n.-43-17242A>C) c.-99+33508A>C (n.-99+33508A>C) n.3904A>C n.3945A>C | |
17 | g.43091763T= | CA2260782251 | BRCA1 | n.3832A= c.3768A= (p.Thr1256=) c.3642A= (p.Thr1214=) c.3765A= (p.Thr1255=) c.3690A= (p.Thr1230=) c.785-731A= (n.785-731A=) c.647-731A= (n.647-731A=) c.2880A= (p.Thr960=) c.3645A= (p.Thr1215=) c.3627A= (p.Thr1209=) c.665-731A= (n.665-731A=) c.707-731A= (n.707-731A=) c.89A= c.671-731A= (n.671-731A=) c.*3551A= (n.*3551A=) c.62A= c.788-731A= (n.788-731A=) c.410-731A= (n.410-731A=) c.413-731A= (n.413-731A=) c.5-27812A= (n.5-27812A=) c.-43-17242A= (n.-43-17242A=) c.-99+33508A= (n.-99+33508A=) n.3904A= n.3945A= | |
17 | g.43091763dup | CA1139770798 | BRCA1 | n.3832dup c.3768dup (p.Glu1257ArgfsTer10) c.3642dup (p.Glu1215ArgfsTer10) c.3765dup (p.Glu1256ArgfsTer10) c.3690dup (p.Glu1231ArgfsTer10) c.785-731dup (n.785-731dup) c.647-731dup (n.647-731dup) c.2880dup (p.Glu961ArgfsTer10) c.3645dup (p.Glu1216ArgfsTer10) c.3627dup (p.Glu1210ArgfsTer10) c.665-731dup (n.665-731dup) c.707-731dup (n.707-731dup) c.89dup c.671-731dup (n.671-731dup) c.*3551dup (n.*3551dup) c.62dup c.788-731dup (n.788-731dup) c.410-731dup (n.410-731dup) c.413-731dup (n.413-731dup) c.5-27812dup (n.5-27812dup) c.-43-17242dup (n.-43-17242dup) c.-99+33508dup (n.-99+33508dup) n.3904dup n.3945dup | |
17 | g.43091766_43091767del | CA002422 | BRCA1 | n.3831_3832del c.3767_3768del (p.Thr1256ArgfsTer10) c.3641_3642del (p.Thr1214ArgfsTer10) c.3764_3765del (p.Thr1255ArgfsTer10) c.3689_3690del (p.Thr1230ArgfsTer10) c.785-732_785-731del (n.785-732_785-731del) c.647-732_647-731del (n.647-732_647-731del) c.2879_2880del (p.Thr960ArgfsTer10) c.3644_3645del (p.Thr1215ArgfsTer10) c.3626_3627del (p.Thr1209ArgfsTer10) c.665-732_665-731del (n.665-732_665-731del) c.707-732_707-731del (n.707-732_707-731del) c.88_89del c.671-732_671-731del (n.671-732_671-731del) c.*3550_*3551del (n.*3550_*3551del) c.61_62del c.788-732_788-731del (n.788-732_788-731del) c.410-732_410-731del (n.410-732_410-731del) c.413-732_413-731del (n.413-732_413-731del) c.5-27813_5-27812del (n.5-27813_5-27812del) c.-43-17243_-43-17242del (n.-43-17243_-43-17242del) c.-99+33507_-99+33508del (n.-99+33507_-99+33508del) n.3903_3904del n.3944_3945del | dbSNP gnomAD v4 |
17 | g.43091764G>A | CA10594436 | BRCA1 | n.3831C>T c.3767C>T (p.Thr1256Ile) c.3641C>T (p.Thr1214Ile) c.3764C>T (p.Thr1255Ile) c.3689C>T (p.Thr1230Ile) c.785-732C>T (n.785-732C>T) c.647-732C>T (n.647-732C>T) c.2879C>T (p.Thr960Ile) c.3644C>T (p.Thr1215Ile) c.3626C>T (p.Thr1209Ile) c.665-732C>T (n.665-732C>T) c.707-732C>T (n.707-732C>T) c.88C>T c.671-732C>T (n.671-732C>T) c.*3550C>T (n.*3550C>T) c.61C>T c.788-732C>T (n.788-732C>T) c.410-732C>T (n.410-732C>T) c.413-732C>T (n.413-732C>T) c.5-27813C>T (n.5-27813C>T) c.-43-17243C>T (n.-43-17243C>T) c.-99+33507C>T (n.-99+33507C>T) n.3903C>T n.3944C>T | ClinVar dbSNP gnomAD v4 |
17 | g.43091764G>C | CA10594437 | BRCA1 | n.3831C>G c.3767C>G (p.Thr1256Arg) c.3641C>G (p.Thr1214Arg) c.3764C>G (p.Thr1255Arg) c.3689C>G (p.Thr1230Arg) c.785-732C>G (n.785-732C>G) c.647-732C>G (n.647-732C>G) c.2879C>G (p.Thr960Arg) c.3644C>G (p.Thr1215Arg) c.3626C>G (p.Thr1209Arg) c.665-732C>G (n.665-732C>G) c.707-732C>G (n.707-732C>G) c.88C>G c.671-732C>G (n.671-732C>G) c.*3550C>G (n.*3550C>G) c.61C>G c.788-732C>G (n.788-732C>G) c.410-732C>G (n.410-732C>G) c.413-732C>G (n.413-732C>G) c.5-27813C>G (n.5-27813C>G) c.-43-17243C>G (n.-43-17243C>G) c.-99+33507C>G (n.-99+33507C>G) n.3903C>G n.3944C>G | dbSNP |
17 | g.43091764G= | CA2260782252 | BRCA1 | n.3831C= c.3767C= (p.Thr1256=) c.3641C= (p.Thr1214=) c.3764C= (p.Thr1255=) c.3689C= (p.Thr1230=) c.785-732C= (n.785-732C=) c.647-732C= (n.647-732C=) c.2879C= (p.Thr960=) c.3644C= (p.Thr1215=) c.3626C= (p.Thr1209=) c.665-732C= (n.665-732C=) c.707-732C= (n.707-732C=) c.88C= c.671-732C= (n.671-732C=) c.*3550C= (n.*3550C=) c.61C= c.788-732C= (n.788-732C=) c.410-732C= (n.410-732C=) c.413-732C= (n.413-732C=) c.5-27813C= (n.5-27813C=) c.-43-17243C= (n.-43-17243C=) c.-99+33507C= (n.-99+33507C=) n.3903C= n.3944C= | |
17 | g.43091764G>T | CA10594438 | BRCA1 | n.3831C>A c.3767C>A (p.Thr1256Lys) c.3641C>A (p.Thr1214Lys) c.3764C>A (p.Thr1255Lys) c.3689C>A (p.Thr1230Lys) c.785-732C>A (n.785-732C>A) c.647-732C>A (n.647-732C>A) c.2879C>A (p.Thr960Lys) c.3644C>A (p.Thr1215Lys) c.3626C>A (p.Thr1209Lys) c.665-732C>A (n.665-732C>A) c.707-732C>A (n.707-732C>A) c.88C>A c.671-732C>A (n.671-732C>A) c.*3550C>A (n.*3550C>A) c.61C>A c.788-732C>A (n.788-732C>A) c.410-732C>A (n.410-732C>A) c.413-732C>A (n.413-732C>A) c.5-27813C>A (n.5-27813C>A) c.-43-17243C>A (n.-43-17243C>A) c.-99+33507C>A (n.-99+33507C>A) n.3903C>A n.3944C>A | gnomAD v4 |
17 | g.43091765del | CA2580612624 | BRCA1 | n.3830del c.3766del (p.Thr1256GlnfsTer8) c.3640del (p.Thr1214GlnfsTer8) c.3763del (p.Thr1255GlnfsTer8) c.3688del (p.Thr1230GlnfsTer8) c.785-733del (n.785-733del) c.647-733del (n.647-733del) c.2878del (p.Thr960GlnfsTer8) c.3643del (p.Thr1215GlnfsTer8) c.3625del (p.Thr1209GlnfsTer8) c.665-733del (n.665-733del) c.707-733del (n.707-733del) c.87del c.671-733del (n.671-733del) c.*3549del (n.*3549del) c.60del c.788-733del (n.788-733del) c.410-733del (n.410-733del) c.413-733del (n.413-733del) c.5-27814del (n.5-27814del) c.-43-17244del (n.-43-17244del) c.-99+33506del (n.-99+33506del) n.3902del n.3943del | |
17 | g.43091765T>A | CA10594439 | BRCA1 | n.3830A>T c.3766A>T (p.Thr1256Ser) c.3640A>T (p.Thr1214Ser) c.3763A>T (p.Thr1255Ser) c.3688A>T (p.Thr1230Ser) c.785-733A>T (n.785-733A>T) c.647-733A>T (n.647-733A>T) c.2878A>T (p.Thr960Ser) c.3643A>T (p.Thr1215Ser) c.3625A>T (p.Thr1209Ser) c.665-733A>T (n.665-733A>T) c.707-733A>T (n.707-733A>T) c.87A>T c.671-733A>T (n.671-733A>T) c.*3549A>T (n.*3549A>T) c.60A>T c.788-733A>T (n.788-733A>T) c.410-733A>T (n.410-733A>T) c.413-733A>T (n.413-733A>T) c.5-27814A>T (n.5-27814A>T) c.-43-17244A>T (n.-43-17244A>T) c.-99+33506A>T (n.-99+33506A>T) n.3902A>T n.3943A>T | dbSNP |
17 | g.43091765T>C | CA10594440 | BRCA1 | n.3830A>G c.3766A>G (p.Thr1256Ala) c.3640A>G (p.Thr1214Ala) c.3763A>G (p.Thr1255Ala) c.3688A>G (p.Thr1230Ala) c.785-733A>G (n.785-733A>G) c.647-733A>G (n.647-733A>G) c.2878A>G (p.Thr960Ala) c.3643A>G (p.Thr1215Ala) c.3625A>G (p.Thr1209Ala) c.665-733A>G (n.665-733A>G) c.707-733A>G (n.707-733A>G) c.87A>G c.671-733A>G (n.671-733A>G) c.*3549A>G (n.*3549A>G) c.60A>G c.788-733A>G (n.788-733A>G) c.410-733A>G (n.410-733A>G) c.413-733A>G (n.413-733A>G) c.5-27814A>G (n.5-27814A>G) c.-43-17244A>G (n.-43-17244A>G) c.-99+33506A>G (n.-99+33506A>G) n.3902A>G n.3943A>G | dbSNP gnomAD v4 |
17 | g.43091765T>G | CA10594441 | BRCA1 | n.3830A>C c.3766A>C (p.Thr1256Pro) c.3640A>C (p.Thr1214Pro) c.3763A>C (p.Thr1255Pro) c.3688A>C (p.Thr1230Pro) c.785-733A>C (n.785-733A>C) c.647-733A>C (n.647-733A>C) c.2878A>C (p.Thr960Pro) c.3643A>C (p.Thr1215Pro) c.3625A>C (p.Thr1209Pro) c.665-733A>C (n.665-733A>C) c.707-733A>C (n.707-733A>C) c.87A>C c.671-733A>C (n.671-733A>C) c.*3549A>C (n.*3549A>C) c.60A>C c.788-733A>C (n.788-733A>C) c.410-733A>C (n.410-733A>C) c.413-733A>C (n.413-733A>C) c.5-27814A>C (n.5-27814A>C) c.-43-17244A>C (n.-43-17244A>C) c.-99+33506A>C (n.-99+33506A>C) n.3902A>C n.3943A>C | dbSNP |
17 | g.43091765T= | CA2260782254 | BRCA1 | n.3830A= c.3766A= (p.Thr1256=) c.3640A= (p.Thr1214=) c.3763A= (p.Thr1255=) c.3688A= (p.Thr1230=) c.785-733A= (n.785-733A=) c.647-733A= (n.647-733A=) c.2878A= (p.Thr960=) c.3643A= (p.Thr1215=) c.3625A= (p.Thr1209=) c.665-733A= (n.665-733A=) c.707-733A= (n.707-733A=) c.87A= c.671-733A= (n.671-733A=) c.*3549A= (n.*3549A=) c.60A= c.788-733A= (n.788-733A=) c.410-733A= (n.410-733A=) c.413-733A= (n.413-733A=) c.5-27814A= (n.5-27814A=) c.-43-17244A= (n.-43-17244A=) c.-99+33506A= (n.-99+33506A=) n.3902A= n.3943A= | |
17 | g.43091765dup | CA002421 | BRCA1 | n.3830dup c.3766dup (p.Thr1256AsnfsTer11) c.3640dup (p.Thr1214AsnfsTer11) c.3763dup (p.Thr1255AsnfsTer11) c.3688dup (p.Thr1230AsnfsTer11) c.785-733dup (n.785-733dup) c.647-733dup (n.647-733dup) c.2878dup (p.Thr960AsnfsTer11) c.3643dup (p.Thr1215AsnfsTer11) c.3625dup (p.Thr1209AsnfsTer11) c.665-733dup (n.665-733dup) c.707-733dup (n.707-733dup) c.87dup c.671-733dup (n.671-733dup) c.*3549dup (n.*3549dup) c.60dup c.788-733dup (n.788-733dup) c.410-733dup (n.410-733dup) c.413-733dup (n.413-733dup) c.5-27814dup (n.5-27814dup) c.-43-17244dup (n.-43-17244dup) c.-99+33506dup (n.-99+33506dup) n.3902dup n.3943dup | ClinVar dbSNP |
17 | g.43091765_43091766delinsTG | CA2260782253 | BRCA1 | n.3829_3830delinsCA c.3765_3766delinsCA (p.Asn1255=) c.3639_3640delinsCA (p.Asn1213=) c.3762_3763delinsCA (p.Asn1254=) c.3687_3688delinsCA (p.Asn1229=) c.785-734_785-733delinsCA (n.785-734_785-733delinsCA) c.647-734_647-733delinsCA (n.647-734_647-733delinsCA) c.2877_2878delinsCA (p.Asn959=) c.3642_3643delinsCA (p.Asn1214=) c.3624_3625delinsCA (p.Asn1208=) c.665-734_665-733delinsCA (n.665-734_665-733delinsCA) c.707-734_707-733delinsCA (n.707-734_707-733delinsCA) c.86_87delinsCA c.671-734_671-733delinsCA (n.671-734_671-733delinsCA) c.*3548_*3549delinsCA (n.*3548_*3549delinsCA) c.59_60delinsCA c.788-734_788-733delinsCA (n.788-734_788-733delinsCA) c.410-734_410-733delinsCA (n.410-734_410-733delinsCA) c.413-734_413-733delinsCA (n.413-734_413-733delinsCA) c.5-27815_5-27814delinsCA (n.5-27815_5-27814delinsCA) c.-43-17245_-43-17244delinsCA (n.-43-17245_-43-17244delinsCA) c.-99+33505_-99+33506delinsCA (n.-99+33505_-99+33506delinsCA) n.3901_3902delinsCA n.3942_3943delinsCA | |
17 | g.43091766_43091770del | CA645578315 | BRCA1 | n.3826_3830del c.3762_3766del (p.Lys1254AsnfsTer11) c.3636_3640del (p.Lys1212AsnfsTer11) c.3759_3763del (p.Lys1253AsnfsTer11) c.3684_3688del (p.Lys1228AsnfsTer11) c.785-737_785-733del (n.785-737_785-733del) c.647-737_647-733del (n.647-737_647-733del) c.2874_2878del (p.Lys958AsnfsTer11) c.3639_3643del (p.Lys1213AsnfsTer11) c.3621_3625del (p.Lys1207AsnfsTer11) c.665-737_665-733del (n.665-737_665-733del) c.707-737_707-733del (n.707-737_707-733del) c.83_87del c.671-737_671-733del (n.671-737_671-733del) c.*3545_*3549del (n.*3545_*3549del) c.56_60del c.788-737_788-733del (n.788-737_788-733del) c.410-737_410-733del (n.410-737_410-733del) c.413-737_413-733del (n.413-737_413-733del) c.5-27818_5-27814del (n.5-27818_5-27814del) c.-43-17248_-43-17244del (n.-43-17248_-43-17244del) c.-99+33502_-99+33506del (n.-99+33502_-99+33506del) n.3898_3902del n.3939_3943del | COSMIC |
17 | g.43091766del | CA10589724 | BRCA1 | n.3829del c.3765del (p.Asn1255LysfsTer9) c.3639del (p.Asn1213LysfsTer9) c.3762del (p.Asn1254LysfsTer9) c.3687del (p.Asn1229LysfsTer9) c.785-734del (n.785-734del) c.647-734del (n.647-734del) c.2877del (p.Asn959LysfsTer9) c.3642del (p.Asn1214LysfsTer9) c.3624del (p.Asn1208LysfsTer9) c.665-734del (n.665-734del) c.707-734del (n.707-734del) c.86del c.671-734del (n.671-734del) c.*3548del (n.*3548del) c.59del c.788-734del (n.788-734del) c.410-734del (n.410-734del) c.413-734del (n.413-734del) c.5-27815del (n.5-27815del) c.-43-17245del (n.-43-17245del) c.-99+33505del (n.-99+33505del) n.3901del n.3942del | ClinVar dbSNP |
17 | g.43091766G>A | CA500232216 | BRCA1 | n.3829C>T c.3765C>T (p.Asn1255=) c.3639C>T (p.Asn1213=) c.3762C>T (p.Asn1254=) c.3687C>T (p.Asn1229=) c.785-734C>T (n.785-734C>T) c.647-734C>T (n.647-734C>T) c.2877C>T (p.Asn959=) c.3642C>T (p.Asn1214=) c.3624C>T (p.Asn1208=) c.665-734C>T (n.665-734C>T) c.707-734C>T (n.707-734C>T) c.86C>T c.671-734C>T (n.671-734C>T) c.*3548C>T (n.*3548C>T) c.59C>T c.788-734C>T (n.788-734C>T) c.410-734C>T (n.410-734C>T) c.413-734C>T (n.413-734C>T) c.5-27815C>T (n.5-27815C>T) c.-43-17245C>T (n.-43-17245C>T) c.-99+33505C>T (n.-99+33505C>T) n.3901C>T n.3942C>T | dbSNP |
17 | g.43091766G>C | CA10594442 | BRCA1 | n.3829C>G c.3765C>G (p.Asn1255Lys) c.3639C>G (p.Asn1213Lys) c.3762C>G (p.Asn1254Lys) c.3687C>G (p.Asn1229Lys) c.785-734C>G (n.785-734C>G) c.647-734C>G (n.647-734C>G) c.2877C>G (p.Asn959Lys) c.3642C>G (p.Asn1214Lys) c.3624C>G (p.Asn1208Lys) c.665-734C>G (n.665-734C>G) c.707-734C>G (n.707-734C>G) c.86C>G c.671-734C>G (n.671-734C>G) c.*3548C>G (n.*3548C>G) c.59C>G c.788-734C>G (n.788-734C>G) c.410-734C>G (n.410-734C>G) c.413-734C>G (n.413-734C>G) c.5-27815C>G (n.5-27815C>G) c.-43-17245C>G (n.-43-17245C>G) c.-99+33505C>G (n.-99+33505C>G) n.3901C>G n.3942C>G | dbSNP gnomAD v4 |
17 | g.43091766G= | CA2260782255 | BRCA1 | n.3829C= c.3765C= (p.Asn1255=) c.3639C= (p.Asn1213=) c.3762C= (p.Asn1254=) c.3687C= (p.Asn1229=) c.785-734C= (n.785-734C=) c.647-734C= (n.647-734C=) c.2877C= (p.Asn959=) c.3642C= (p.Asn1214=) c.3624C= (p.Asn1208=) c.665-734C= (n.665-734C=) c.707-734C= (n.707-734C=) c.86C= c.671-734C= (n.671-734C=) c.*3548C= (n.*3548C=) c.59C= c.788-734C= (n.788-734C=) c.410-734C= (n.410-734C=) c.413-734C= (n.413-734C=) c.5-27815C= (n.5-27815C=) c.-43-17245C= (n.-43-17245C=) c.-99+33505C= (n.-99+33505C=) n.3901C= n.3942C= | |
17 | g.43091766G>T | CA10594443 | BRCA1 | n.3829C>A c.3765C>A (p.Asn1255Lys) c.3639C>A (p.Asn1213Lys) c.3762C>A (p.Asn1254Lys) c.3687C>A (p.Asn1229Lys) c.785-734C>A (n.785-734C>A) c.647-734C>A (n.647-734C>A) c.2877C>A (p.Asn959Lys) c.3642C>A (p.Asn1214Lys) c.3624C>A (p.Asn1208Lys) c.665-734C>A (n.665-734C>A) c.707-734C>A (n.707-734C>A) c.86C>A c.671-734C>A (n.671-734C>A) c.*3548C>A (n.*3548C>A) c.59C>A c.788-734C>A (n.788-734C>A) c.410-734C>A (n.410-734C>A) c.413-734C>A (n.413-734C>A) c.5-27815C>A (n.5-27815C>A) c.-43-17245C>A (n.-43-17245C>A) c.-99+33505C>A (n.-99+33505C>A) n.3901C>A n.3942C>A | dbSNP |
17 | g.43091766_43091768delinsGTT | CA2260782257 | BRCA1 | n.3827_3829delinsAAC c.3763_3765delinsAAC (p.Asn1255=) c.3637_3639delinsAAC (p.Asn1213=) c.3760_3762delinsAAC (p.Asn1254=) c.3685_3687delinsAAC (p.Asn1229=) c.785-736_785-734delinsAAC (n.785-736_785-734delinsAAC) c.647-736_647-734delinsAAC (n.647-736_647-734delinsAAC) c.2875_2877delinsAAC (p.Asn959=) c.3640_3642delinsAAC (p.Asn1214=) c.3622_3624delinsAAC (p.Asn1208=) c.665-736_665-734delinsAAC (n.665-736_665-734delinsAAC) c.707-736_707-734delinsAAC (n.707-736_707-734delinsAAC) c.84_86delinsAAC c.671-736_671-734delinsAAC (n.671-736_671-734delinsAAC) c.*3546_*3548delinsAAC (n.*3546_*3548delinsAAC) c.57_59delinsAAC c.788-736_788-734delinsAAC (n.788-736_788-734delinsAAC) c.410-736_410-734delinsAAC (n.410-736_410-734delinsAAC) c.413-736_413-734delinsAAC (n.413-736_413-734delinsAAC) c.5-27817_5-27815delinsAAC (n.5-27817_5-27815delinsAAC) c.-43-17247_-43-17245delinsAAC (n.-43-17247_-43-17245delinsAAC) c.-99+33503_-99+33505delinsAAC (n.-99+33503_-99+33505delinsAAC) n.3899_3901delinsAAC n.3940_3942delinsAAC | |
17 | g.43091766_43091770delinsGTTCT | CA2260782256 | BRCA1 | n.3825_3829delinsAGAAC c.3761_3765delinsAGAAC (p.Lys1254=) c.3635_3639delinsAGAAC (p.Lys1212=) c.3758_3762delinsAGAAC (p.Lys1253=) c.3683_3687delinsAGAAC (p.Lys1228=) c.785-738_785-734delinsAGAAC (n.785-738_785-734delinsAGAAC) c.647-738_647-734delinsAGAAC (n.647-738_647-734delinsAGAAC) c.2873_2877delinsAGAAC (p.Lys958=) c.3638_3642delinsAGAAC (p.Lys1213=) c.3620_3624delinsAGAAC (p.Lys1207=) c.665-738_665-734delinsAGAAC (n.665-738_665-734delinsAGAAC) c.707-738_707-734delinsAGAAC (n.707-738_707-734delinsAGAAC) c.82_86delinsAGAAC c.671-738_671-734delinsAGAAC (n.671-738_671-734delinsAGAAC) c.*3544_*3548delinsAGAAC (n.*3544_*3548delinsAGAAC) c.55_59delinsAGAAC c.788-738_788-734delinsAGAAC (n.788-738_788-734delinsAGAAC) c.410-738_410-734delinsAGAAC (n.410-738_410-734delinsAGAAC) c.413-738_413-734delinsAGAAC (n.413-738_413-734delinsAGAAC) c.5-27819_5-27815delinsAGAAC (n.5-27819_5-27815delinsAGAAC) c.-43-17249_-43-17245delinsAGAAC (n.-43-17249_-43-17245delinsAGAAC) c.-99+33501_-99+33505delinsAGAAC (n.-99+33501_-99+33505delinsAGAAC) n.3897_3901delinsAGAAC n.3938_3942delinsAGAAC | |
17 | g.43091767T>A | CA10594444 | BRCA1 | n.3828A>T c.3764A>T (p.Asn1255Ile) c.3638A>T (p.Asn1213Ile) c.3761A>T (p.Asn1254Ile) c.3686A>T (p.Asn1229Ile) c.785-735A>T (n.785-735A>T) c.647-735A>T (n.647-735A>T) c.2876A>T (p.Asn959Ile) c.3641A>T (p.Asn1214Ile) c.3623A>T (p.Asn1208Ile) c.665-735A>T (n.665-735A>T) c.707-735A>T (n.707-735A>T) c.85A>T c.671-735A>T (n.671-735A>T) c.*3547A>T (n.*3547A>T) c.58A>T c.788-735A>T (n.788-735A>T) c.410-735A>T (n.410-735A>T) c.413-735A>T (n.413-735A>T) c.5-27816A>T (n.5-27816A>T) c.-43-17246A>T (n.-43-17246A>T) c.-99+33504A>T (n.-99+33504A>T) n.3900A>T n.3941A>T | dbSNP |
17 | g.43091767T>C | CA10594445 | BRCA1 | n.3828A>G c.3764A>G (p.Asn1255Ser) c.3638A>G (p.Asn1213Ser) c.3761A>G (p.Asn1254Ser) c.3686A>G (p.Asn1229Ser) c.785-735A>G (n.785-735A>G) c.647-735A>G (n.647-735A>G) c.2876A>G (p.Asn959Ser) c.3641A>G (p.Asn1214Ser) c.3623A>G (p.Asn1208Ser) c.665-735A>G (n.665-735A>G) c.707-735A>G (n.707-735A>G) c.85A>G c.671-735A>G (n.671-735A>G) c.*3547A>G (n.*3547A>G) c.58A>G c.788-735A>G (n.788-735A>G) c.410-735A>G (n.410-735A>G) c.413-735A>G (n.413-735A>G) c.5-27816A>G (n.5-27816A>G) c.-43-17246A>G (n.-43-17246A>G) c.-99+33504A>G (n.-99+33504A>G) n.3900A>G n.3941A>G | dbSNP |
17 | g.43091767T>G | CA10594446 | BRCA1 | n.3828A>C c.3764A>C (p.Asn1255Thr) c.3638A>C (p.Asn1213Thr) c.3761A>C (p.Asn1254Thr) c.3686A>C (p.Asn1229Thr) c.785-735A>C (n.785-735A>C) c.647-735A>C (n.647-735A>C) c.2876A>C (p.Asn959Thr) c.3641A>C (p.Asn1214Thr) c.3623A>C (p.Asn1208Thr) c.665-735A>C (n.665-735A>C) c.707-735A>C (n.707-735A>C) c.85A>C c.671-735A>C (n.671-735A>C) c.*3547A>C (n.*3547A>C) c.58A>C c.788-735A>C (n.788-735A>C) c.410-735A>C (n.410-735A>C) c.413-735A>C (n.413-735A>C) c.5-27816A>C (n.5-27816A>C) c.-43-17246A>C (n.-43-17246A>C) c.-99+33504A>C (n.-99+33504A>C) n.3900A>C n.3941A>C | |
17 | g.43091767_43091768del | CA002419 | BRCA1 | n.3827_3828del c.3763_3764del (p.Asn1255HisfsTer11) c.3637_3638del (p.Asn1213HisfsTer11) c.3760_3761del (p.Asn1254HisfsTer11) c.3685_3686del (p.Asn1229HisfsTer11) c.785-736_785-735del (n.785-736_785-735del) c.647-736_647-735del (n.647-736_647-735del) c.2875_2876del (p.Asn959HisfsTer11) c.3640_3641del (p.Asn1214HisfsTer11) c.3622_3623del (p.Asn1208HisfsTer11) c.665-736_665-735del (n.665-736_665-735del) c.707-736_707-735del (n.707-736_707-735del) c.84_85del c.671-736_671-735del (n.671-736_671-735del) c.*3546_*3547del (n.*3546_*3547del) c.57_58del c.788-736_788-735del (n.788-736_788-735del) c.410-736_410-735del (n.410-736_410-735del) c.413-736_413-735del (n.413-736_413-735del) c.5-27817_5-27816del (n.5-27817_5-27816del) c.-43-17247_-43-17246del (n.-43-17247_-43-17246del) c.-99+33503_-99+33504del (n.-99+33503_-99+33504del) n.3899_3900del n.3940_3941del | ClinVar dbSNP |
17 | g.43091768dup | CA002420 | BRCA1 | n.3828dup c.3764dup (p.Asn1255LysfsTer12) c.3638dup (p.Asn1213LysfsTer12) c.3761dup (p.Asn1254LysfsTer12) c.3686dup (p.Asn1229LysfsTer12) c.785-735dup (n.785-735dup) c.647-735dup (n.647-735dup) c.2876dup (p.Asn959LysfsTer12) c.3641dup (p.Asn1214LysfsTer12) c.3623dup (p.Asn1208LysfsTer12) c.665-735dup (n.665-735dup) c.707-735dup (n.707-735dup) c.85dup c.671-735dup (n.671-735dup) c.*3547dup (n.*3547dup) c.58dup c.788-735dup (n.788-735dup) c.410-735dup (n.410-735dup) c.413-735dup (n.413-735dup) c.5-27816dup (n.5-27816dup) c.-43-17246dup (n.-43-17246dup) c.-99+33504dup (n.-99+33504dup) n.3900dup n.3941dup | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.43091767_43091769delinsTTC | CA2260782259 | BRCA1 | n.3826_3828delinsGAA c.3762_3764delinsGAA (p.Lys1254=) c.3636_3638delinsGAA (p.Lys1212=) c.3759_3761delinsGAA (p.Lys1253=) c.3684_3686delinsGAA (p.Lys1228=) c.785-737_785-735delinsGAA (n.785-737_785-735delinsGAA) c.647-737_647-735delinsGAA (n.647-737_647-735delinsGAA) c.2874_2876delinsGAA (p.Lys958=) c.3639_3641delinsGAA (p.Lys1213=) c.3621_3623delinsGAA (p.Lys1207=) c.665-737_665-735delinsGAA (n.665-737_665-735delinsGAA) c.707-737_707-735delinsGAA (n.707-737_707-735delinsGAA) c.83_85delinsGAA c.671-737_671-735delinsGAA (n.671-737_671-735delinsGAA) c.*3545_*3547delinsGAA (n.*3545_*3547delinsGAA) c.56_58delinsGAA c.788-737_788-735delinsGAA (n.788-737_788-735delinsGAA) c.410-737_410-735delinsGAA (n.410-737_410-735delinsGAA) c.413-737_413-735delinsGAA (n.413-737_413-735delinsGAA) c.5-27818_5-27816delinsGAA (n.5-27818_5-27816delinsGAA) c.-43-17248_-43-17246delinsGAA (n.-43-17248_-43-17246delinsGAA) c.-99+33502_-99+33504delinsGAA (n.-99+33502_-99+33504delinsGAA) n.3898_3900delinsGAA n.3939_3941delinsGAA | |
17 | g.43091768_43091771del | CA2260782258 | BRCA1 | n.3825_3828del c.3761_3764del (p.Lys1254ThrfsTer9) c.3635_3638del (p.Lys1212ThrfsTer9) c.3758_3761del (p.Lys1253ThrfsTer9) c.3683_3686del (p.Lys1228ThrfsTer9) c.785-738_785-735del (n.785-738_785-735del) c.647-738_647-735del (n.647-738_647-735del) c.2873_2876del (p.Lys958ThrfsTer9) c.3638_3641del (p.Lys1213ThrfsTer9) c.3620_3623del (p.Lys1207ThrfsTer9) c.665-738_665-735del (n.665-738_665-735del) c.707-738_707-735del (n.707-738_707-735del) c.82_85del c.671-738_671-735del (n.671-738_671-735del) c.*3544_*3547del (n.*3544_*3547del) c.55_58del c.788-738_788-735del (n.788-738_788-735del) c.410-738_410-735del (n.410-738_410-735del) c.413-738_413-735del (n.413-738_413-735del) c.5-27819_5-27816del (n.5-27819_5-27816del) c.-43-17249_-43-17246del (n.-43-17249_-43-17246del) c.-99+33501_-99+33504del (n.-99+33501_-99+33504del) n.3897_3900del n.3938_3941del | ClinVar dbSNP |