| 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.43091680_43091691delinsTGATGTTCCTGA | CA2260782160 | BRCA1 | n.3904_3915delinsTCAGGAACATCA c.3840_3851delinsTCAGGAACATCA (p.Ser1280=) c.3714_3725delinsTCAGGAACATCA (p.Ser1238=) c.3837_3848delinsTCAGGAACATCA (p.Ser1279=) c.3762_3773delinsTCAGGAACATCA (p.Ser1254=) c.785-659_785-648delinsTCAGGAACATCA (n.785-659_785-648delinsTCAGGAACATCA) c.647-659_647-648delinsTCAGGAACATCA (n.647-659_647-648delinsTCAGGAACATCA) c.2952_2963delinsTCAGGAACATCA (p.Ser984=) c.3717_3728delinsTCAGGAACATCA (p.Ser1239=) c.3699_3710delinsTCAGGAACATCA (p.Ser1233=) c.665-659_665-648delinsTCAGGAACATCA (n.665-659_665-648delinsTCAGGAACATCA) c.707-659_707-648delinsTCAGGAACATCA (n.707-659_707-648delinsTCAGGAACATCA) c.161_172delinsTCAGGAACATCA c.671-659_671-648delinsTCAGGAACATCA (n.671-659_671-648delinsTCAGGAACATCA) c.*3623_*3634delinsTCAGGAACATCA (n.*3623_*3634delinsTCAGGAACATCA) c.134_145delinsTCAGGAACATCA c.788-659_788-648delinsTCAGGAACATCA (n.788-659_788-648delinsTCAGGAACATCA) c.410-659_410-648delinsTCAGGAACATCA (n.410-659_410-648delinsTCAGGAACATCA) c.413-659_413-648delinsTCAGGAACATCA (n.413-659_413-648delinsTCAGGAACATCA) c.5-27740_5-27729delinsTCAGGAACATCA (n.5-27740_5-27729delinsTCAGGAACATCA) c.-43-17170_-43-17159delinsTCAGGAACATCA (n.-43-17170_-43-17159delinsTCAGGAACATCA) c.-99+33580_-99+33591delinsTCAGGAACATCA (n.-99+33580_-99+33591delinsTCAGGAACATCA) n.3976_3987delinsTCAGGAACATCA n.4017_4028delinsTCAGGAACATCA | |
| 17 | g.43091685_43091695del | CA10589719 | BRCA1 | n.3904_3914del c.3840_3850del (p.Gln1281ProfsTer2) c.3714_3724del (p.Gln1239ProfsTer2) c.3837_3847del (p.Gln1280ProfsTer2) c.3762_3772del (p.Gln1255ProfsTer2) c.785-659_785-649del (n.785-659_785-649del) c.647-659_647-649del (n.647-659_647-649del) c.2952_2962del (p.Gln985ProfsTer2) c.3717_3727del (p.Gln1240ProfsTer2) c.3699_3709del (p.Gln1234ProfsTer2) c.665-659_665-649del (n.665-659_665-649del) c.707-659_707-649del (n.707-659_707-649del) c.161_171del c.671-659_671-649del (n.671-659_671-649del) c.*3623_*3633del (n.*3623_*3633del) c.134_144del c.788-659_788-649del (n.788-659_788-649del) c.410-659_410-649del (n.410-659_410-649del) c.413-659_413-649del (n.413-659_413-649del) c.5-27740_5-27730del (n.5-27740_5-27730del) c.-43-17170_-43-17160del (n.-43-17170_-43-17160del) c.-99+33580_-99+33590del (n.-99+33580_-99+33590del) n.3976_3986del n.4017_4027del | ClinVar dbSNP |
| 17 | g.43091684G>A | CA10594270 | BRCA1 | n.3911C>T c.3847C>T (p.His1283Tyr) c.3721C>T (p.His1241Tyr) c.3844C>T (p.His1282Tyr) c.3769C>T (p.His1257Tyr) c.785-652C>T (n.785-652C>T) c.647-652C>T (n.647-652C>T) c.2959C>T (p.His987Tyr) c.3724C>T (p.His1242Tyr) c.3706C>T (p.His1236Tyr) c.665-652C>T (n.665-652C>T) c.707-652C>T (n.707-652C>T) c.168C>T c.671-652C>T (n.671-652C>T) c.*3630C>T (n.*3630C>T) c.141C>T c.788-652C>T (n.788-652C>T) c.410-652C>T (n.410-652C>T) c.413-652C>T (n.413-652C>T) c.5-27733C>T (n.5-27733C>T) c.-43-17163C>T (n.-43-17163C>T) c.-99+33587C>T (n.-99+33587C>T) n.3983C>T n.4024C>T | ClinVar dbSNP |
| 17 | g.43091684G>C | CA10594271 | BRCA1 | n.3911C>G c.3847C>G (p.His1283Asp) c.3721C>G (p.His1241Asp) c.3844C>G (p.His1282Asp) c.3769C>G (p.His1257Asp) c.785-652C>G (n.785-652C>G) c.647-652C>G (n.647-652C>G) c.2959C>G (p.His987Asp) c.3724C>G (p.His1242Asp) c.3706C>G (p.His1236Asp) c.665-652C>G (n.665-652C>G) c.707-652C>G (n.707-652C>G) c.168C>G c.671-652C>G (n.671-652C>G) c.*3630C>G (n.*3630C>G) c.141C>G c.788-652C>G (n.788-652C>G) c.410-652C>G (n.410-652C>G) c.413-652C>G (n.413-652C>G) c.5-27733C>G (n.5-27733C>G) c.-43-17163C>G (n.-43-17163C>G) c.-99+33587C>G (n.-99+33587C>G) n.3983C>G n.4024C>G | dbSNP |
| 17 | g.43091684G= | CA2260782163 | BRCA1 | n.3911C= c.3847C= (p.His1283=) c.3721C= (p.His1241=) c.3844C= (p.His1282=) c.3769C= (p.His1257=) c.785-652C= (n.785-652C=) c.647-652C= (n.647-652C=) c.2959C= (p.His987=) c.3724C= (p.His1242=) c.3706C= (p.His1236=) c.665-652C= (n.665-652C=) c.707-652C= (n.707-652C=) c.168C= c.671-652C= (n.671-652C=) c.*3630C= (n.*3630C=) c.141C= c.788-652C= (n.788-652C=) c.410-652C= (n.410-652C=) c.413-652C= (n.413-652C=) c.5-27733C= (n.5-27733C=) c.-43-17163C= (n.-43-17163C=) c.-99+33587C= (n.-99+33587C=) n.3983C= n.4024C= | |
| 17 | g.43091684G>T | CA10594272 | BRCA1 | n.3911C>A c.3847C>A (p.His1283Asn) c.3721C>A (p.His1241Asn) c.3844C>A (p.His1282Asn) c.3769C>A (p.His1257Asn) c.785-652C>A (n.785-652C>A) c.647-652C>A (n.647-652C>A) c.2959C>A (p.His987Asn) c.3724C>A (p.His1242Asn) c.3706C>A (p.His1236Asn) c.665-652C>A (n.665-652C>A) c.707-652C>A (n.707-652C>A) c.168C>A c.671-652C>A (n.671-652C>A) c.*3630C>A (n.*3630C>A) c.141C>A c.788-652C>A (n.788-652C>A) c.410-652C>A (n.410-652C>A) c.413-652C>A (n.413-652C>A) c.5-27733C>A (n.5-27733C>A) c.-43-17163C>A (n.-43-17163C>A) c.-99+33587C>A (n.-99+33587C>A) n.3983C>A n.4024C>A | dbSNP |
| 17 | g.43091685T>A | CA10594273 | BRCA1 | n.3910A>T c.3846A>T (p.Glu1282Asp) c.3720A>T (p.Glu1240Asp) c.3843A>T (p.Glu1281Asp) c.3768A>T (p.Glu1256Asp) c.785-653A>T (n.785-653A>T) c.647-653A>T (n.647-653A>T) c.2958A>T (p.Glu986Asp) c.3723A>T (p.Glu1241Asp) c.3705A>T (p.Glu1235Asp) c.665-653A>T (n.665-653A>T) c.707-653A>T (n.707-653A>T) c.167A>T c.671-653A>T (n.671-653A>T) c.*3629A>T (n.*3629A>T) c.140A>T c.788-653A>T (n.788-653A>T) c.410-653A>T (n.410-653A>T) c.413-653A>T (n.413-653A>T) c.5-27734A>T (n.5-27734A>T) c.-43-17164A>T (n.-43-17164A>T) c.-99+33586A>T (n.-99+33586A>T) n.3982A>T n.4023A>T | dbSNP |
| 17 | g.43091685T>C | CA500232159 | BRCA1 | n.3910A>G c.3846A>G (p.Glu1282=) c.3720A>G (p.Glu1240=) c.3843A>G (p.Glu1281=) c.3768A>G (p.Glu1256=) c.785-653A>G (n.785-653A>G) c.647-653A>G (n.647-653A>G) c.2958A>G (p.Glu986=) c.3723A>G (p.Glu1241=) c.3705A>G (p.Glu1235=) c.665-653A>G (n.665-653A>G) c.707-653A>G (n.707-653A>G) c.167A>G c.671-653A>G (n.671-653A>G) c.*3629A>G (n.*3629A>G) c.140A>G c.788-653A>G (n.788-653A>G) c.410-653A>G (n.410-653A>G) c.413-653A>G (n.413-653A>G) c.5-27734A>G (n.5-27734A>G) c.-43-17164A>G (n.-43-17164A>G) c.-99+33586A>G (n.-99+33586A>G) n.3982A>G n.4023A>G | ClinVar dbSNP |
| 17 | g.43091685T>G | CA10594274 | BRCA1 | n.3910A>C c.3846A>C (p.Glu1282Asp) c.3720A>C (p.Glu1240Asp) c.3843A>C (p.Glu1281Asp) c.3768A>C (p.Glu1256Asp) c.785-653A>C (n.785-653A>C) c.647-653A>C (n.647-653A>C) c.2958A>C (p.Glu986Asp) c.3723A>C (p.Glu1241Asp) c.3705A>C (p.Glu1235Asp) c.665-653A>C (n.665-653A>C) c.707-653A>C (n.707-653A>C) c.167A>C c.671-653A>C (n.671-653A>C) c.*3629A>C (n.*3629A>C) c.140A>C c.788-653A>C (n.788-653A>C) c.410-653A>C (n.410-653A>C) c.413-653A>C (n.413-653A>C) c.5-27734A>C (n.5-27734A>C) c.-43-17164A>C (n.-43-17164A>C) c.-99+33586A>C (n.-99+33586A>C) n.3982A>C n.4023A>C | dbSNP |
| 17 | g.43091685T= | CA2260782164 | BRCA1 | n.3910A= c.3846A= (p.Glu1282=) c.3720A= (p.Glu1240=) c.3843A= (p.Glu1281=) c.3768A= (p.Glu1256=) c.785-653A= (n.785-653A=) c.647-653A= (n.647-653A=) c.2958A= (p.Glu986=) c.3723A= (p.Glu1241=) c.3705A= (p.Glu1235=) c.665-653A= (n.665-653A=) c.707-653A= (n.707-653A=) c.167A= c.671-653A= (n.671-653A=) c.*3629A= (n.*3629A=) c.140A= c.788-653A= (n.788-653A=) c.410-653A= (n.410-653A=) c.413-653A= (n.413-653A=) c.5-27734A= (n.5-27734A=) c.-43-17164A= (n.-43-17164A=) c.-99+33586A= (n.-99+33586A=) n.3982A= n.4023A= | |
| 17 | g.43091686T>A | CA002478 | BRCA1 | n.3909A>T c.3845A>T (p.Glu1282Val) c.3719A>T (p.Glu1240Val) c.3842A>T (p.Glu1281Val) c.3767A>T (p.Glu1256Val) c.785-654A>T (n.785-654A>T) c.647-654A>T (n.647-654A>T) c.2957A>T (p.Glu986Val) c.3722A>T (p.Glu1241Val) c.3704A>T (p.Glu1235Val) c.665-654A>T (n.665-654A>T) c.707-654A>T (n.707-654A>T) c.166A>T c.671-654A>T (n.671-654A>T) c.*3628A>T (n.*3628A>T) c.139A>T c.788-654A>T (n.788-654A>T) c.410-654A>T (n.410-654A>T) c.413-654A>T (n.413-654A>T) c.5-27735A>T (n.5-27735A>T) c.-43-17165A>T (n.-43-17165A>T) c.-99+33585A>T (n.-99+33585A>T) n.3981A>T n.4022A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.43091686T>C | CA10594275 | BRCA1 | n.3909A>G c.3845A>G (p.Glu1282Gly) c.3719A>G (p.Glu1240Gly) c.3842A>G (p.Glu1281Gly) c.3767A>G (p.Glu1256Gly) c.785-654A>G (n.785-654A>G) c.647-654A>G (n.647-654A>G) c.2957A>G (p.Glu986Gly) c.3722A>G (p.Glu1241Gly) c.3704A>G (p.Glu1235Gly) c.665-654A>G (n.665-654A>G) c.707-654A>G (n.707-654A>G) c.166A>G c.671-654A>G (n.671-654A>G) c.*3628A>G (n.*3628A>G) c.139A>G c.788-654A>G (n.788-654A>G) c.410-654A>G (n.410-654A>G) c.413-654A>G (n.413-654A>G) c.5-27735A>G (n.5-27735A>G) c.-43-17165A>G (n.-43-17165A>G) c.-99+33585A>G (n.-99+33585A>G) n.3981A>G n.4022A>G | ClinVar dbSNP |
| 17 | g.43091686T>G | CA10594276 | BRCA1 | n.3909A>C c.3845A>C (p.Glu1282Ala) c.3719A>C (p.Glu1240Ala) c.3842A>C (p.Glu1281Ala) c.3767A>C (p.Glu1256Ala) c.785-654A>C (n.785-654A>C) c.647-654A>C (n.647-654A>C) c.2957A>C (p.Glu986Ala) c.3722A>C (p.Glu1241Ala) c.3704A>C (p.Glu1235Ala) c.665-654A>C (n.665-654A>C) c.707-654A>C (n.707-654A>C) c.166A>C c.671-654A>C (n.671-654A>C) c.*3628A>C (n.*3628A>C) c.139A>C c.788-654A>C (n.788-654A>C) c.410-654A>C (n.410-654A>C) c.413-654A>C (n.413-654A>C) c.5-27735A>C (n.5-27735A>C) c.-43-17165A>C (n.-43-17165A>C) c.-99+33585A>C (n.-99+33585A>C) n.3981A>C n.4022A>C | dbSNP |
| 17 | g.43091686T= | CA2260782165 | BRCA1 | n.3909A= c.3845A= (p.Glu1282=) c.3719A= (p.Glu1240=) c.3842A= (p.Glu1281=) c.3767A= (p.Glu1256=) c.785-654A= (n.785-654A=) c.647-654A= (n.647-654A=) c.2957A= (p.Glu986=) c.3722A= (p.Glu1241=) c.3704A= (p.Glu1235=) c.665-654A= (n.665-654A=) c.707-654A= (n.707-654A=) c.166A= c.671-654A= (n.671-654A=) c.*3628A= (n.*3628A=) c.139A= c.788-654A= (n.788-654A=) c.410-654A= (n.410-654A=) c.413-654A= (n.413-654A=) c.5-27735A= (n.5-27735A=) c.-43-17165A= (n.-43-17165A=) c.-99+33585A= (n.-99+33585A=) n.3981A= n.4022A= | |
| 17 | g.43091686_43091687delinsTC | CA2260782166 | BRCA1 | n.3908_3909delinsGA c.3844_3845delinsGA (p.Glu1282=) c.3718_3719delinsGA (p.Glu1240=) c.3841_3842delinsGA (p.Glu1281=) c.3766_3767delinsGA (p.Glu1256=) c.785-655_785-654delinsGA (n.785-655_785-654delinsGA) c.647-655_647-654delinsGA (n.647-655_647-654delinsGA) c.2956_2957delinsGA (p.Glu986=) c.3721_3722delinsGA (p.Glu1241=) c.3703_3704delinsGA (p.Glu1235=) c.665-655_665-654delinsGA (n.665-655_665-654delinsGA) c.707-655_707-654delinsGA (n.707-655_707-654delinsGA) c.165_166delinsGA c.671-655_671-654delinsGA (n.671-655_671-654delinsGA) c.*3627_*3628delinsGA (n.*3627_*3628delinsGA) c.138_139delinsGA c.788-655_788-654delinsGA (n.788-655_788-654delinsGA) c.410-655_410-654delinsGA (n.410-655_410-654delinsGA) c.413-655_413-654delinsGA (n.413-655_413-654delinsGA) c.5-27736_5-27735delinsGA (n.5-27736_5-27735delinsGA) c.-43-17166_-43-17165delinsGA (n.-43-17166_-43-17165delinsGA) c.-99+33584_-99+33585delinsGA (n.-99+33584_-99+33585delinsGA) n.3980_3981delinsGA n.4021_4022delinsGA | |
| 17 | g.43091687C>A | CA10594277 | BRCA1 | n.3908G>T c.3844G>T (p.Glu1282Ter) c.3718G>T (p.Glu1240Ter) c.3841G>T (p.Glu1281Ter) c.3766G>T (p.Glu1256Ter) c.785-655G>T (n.785-655G>T) c.647-655G>T (n.647-655G>T) c.2956G>T (p.Glu986Ter) c.3721G>T (p.Glu1241Ter) c.3703G>T (p.Glu1235Ter) c.665-655G>T (n.665-655G>T) c.707-655G>T (n.707-655G>T) c.165G>T c.671-655G>T (n.671-655G>T) c.*3627G>T (n.*3627G>T) c.138G>T c.788-655G>T (n.788-655G>T) c.410-655G>T (n.410-655G>T) c.413-655G>T (n.413-655G>T) c.5-27736G>T (n.5-27736G>T) c.-43-17166G>T (n.-43-17166G>T) c.-99+33584G>T (n.-99+33584G>T) n.3980G>T n.4021G>T | ClinVar dbSNP |
| 17 | g.43091687C>G | CA10594278 | BRCA1 | n.3908G>C c.3844G>C (p.Glu1282Gln) c.3718G>C (p.Glu1240Gln) c.3841G>C (p.Glu1281Gln) c.3766G>C (p.Glu1256Gln) c.785-655G>C (n.785-655G>C) c.647-655G>C (n.647-655G>C) c.2956G>C (p.Glu986Gln) c.3721G>C (p.Glu1241Gln) c.3703G>C (p.Glu1235Gln) c.665-655G>C (n.665-655G>C) c.707-655G>C (n.707-655G>C) c.165G>C c.671-655G>C (n.671-655G>C) c.*3627G>C (n.*3627G>C) c.138G>C c.788-655G>C (n.788-655G>C) c.410-655G>C (n.410-655G>C) c.413-655G>C (n.413-655G>C) c.5-27736G>C (n.5-27736G>C) c.-43-17166G>C (n.-43-17166G>C) c.-99+33584G>C (n.-99+33584G>C) n.3980G>C n.4021G>C | ClinVar |
| 17 | g.43091687C>T | CA10594279 | BRCA1 | n.3908G>A c.3844G>A (p.Glu1282Lys) c.3718G>A (p.Glu1240Lys) c.3841G>A (p.Glu1281Lys) c.3766G>A (p.Glu1256Lys) c.785-655G>A (n.785-655G>A) c.647-655G>A (n.647-655G>A) c.2956G>A (p.Glu986Lys) c.3721G>A (p.Glu1241Lys) c.3703G>A (p.Glu1235Lys) c.665-655G>A (n.665-655G>A) c.707-655G>A (n.707-655G>A) c.165G>A c.671-655G>A (n.671-655G>A) c.*3627G>A (n.*3627G>A) c.138G>A c.788-655G>A (n.788-655G>A) c.410-655G>A (n.410-655G>A) c.413-655G>A (n.413-655G>A) c.5-27736G>A (n.5-27736G>A) c.-43-17166G>A (n.-43-17166G>A) c.-99+33584G>A (n.-99+33584G>A) n.3980G>A n.4021G>A | ClinVar dbSNP |
| 17 | g.43091687_43091688insGC | CA2638062628 | BRCA1 | n.3908_3909insCG c.3844_3845insCG (p.Glu1282AlafsTer26) c.3718_3719insCG (p.Glu1240AlafsTer26) c.3841_3842insCG (p.Glu1281AlafsTer26) c.3766_3767insCG (p.Glu1256AlafsTer26) c.785-655_785-654insCG (n.785-655_785-654insCG) c.647-655_647-654insCG (n.647-655_647-654insCG) c.2956_2957insCG (p.Glu986AlafsTer26) c.3721_3722insCG (p.Glu1241AlafsTer26) c.3703_3704insCG (p.Glu1235AlafsTer26) c.665-655_665-654insCG (n.665-655_665-654insCG) c.707-655_707-654insCG (n.707-655_707-654insCG) c.165_166insCG c.671-655_671-654insCG (n.671-655_671-654insCG) c.*3627_*3628insCG (n.*3627_*3628insCG) c.138_139insCG c.788-655_788-654insCG (n.788-655_788-654insCG) c.410-655_410-654insCG (n.410-655_410-654insCG) c.413-655_413-654insCG (n.413-655_413-654insCG) c.5-27736_5-27735insCG (n.5-27736_5-27735insCG) c.-43-17166_-43-17165insCG (n.-43-17166_-43-17165insCG) c.-99+33584_-99+33585insCG (n.-99+33584_-99+33585insCG) n.3980_3981insCG n.4021_4022insCG | gnomAD v4 |
| 17 | g.43091688del | CA002477 | BRCA1 | n.3908del c.3844del (p.Glu1282AsnfsTer25) c.3718del (p.Glu1240AsnfsTer25) c.3841del (p.Glu1281AsnfsTer25) c.3766del (p.Glu1256AsnfsTer25) c.785-655del (n.785-655del) c.647-655del (n.647-655del) c.2956del (p.Glu986AsnfsTer25) c.3721del (p.Glu1241AsnfsTer25) c.3703del (p.Glu1235AsnfsTer25) c.665-655del (n.665-655del) c.707-655del (n.707-655del) c.165del c.671-655del (n.671-655del) c.*3627del (n.*3627del) c.138del c.788-655del (n.788-655del) c.410-655del (n.410-655del) c.413-655del (n.413-655del) c.5-27736del (n.5-27736del) c.-43-17166del (n.-43-17166del) c.-99+33584del (n.-99+33584del) n.3980del n.4021del | ClinVar dbSNP |
| 17 | g.43091687_43091690delinsCCTG | CA2260782167 | BRCA1 | n.3905_3908delinsCAGG c.3841_3844delinsCAGG (p.Gln1281=) c.3715_3718delinsCAGG (p.Gln1239=) c.3838_3841delinsCAGG (p.Gln1280=) c.3763_3766delinsCAGG (p.Gln1255=) c.785-658_785-655delinsCAGG (n.785-658_785-655delinsCAGG) c.647-658_647-655delinsCAGG (n.647-658_647-655delinsCAGG) c.2953_2956delinsCAGG (p.Gln985=) c.3718_3721delinsCAGG (p.Gln1240=) c.3700_3703delinsCAGG (p.Gln1234=) c.665-658_665-655delinsCAGG (n.665-658_665-655delinsCAGG) c.707-658_707-655delinsCAGG (n.707-658_707-655delinsCAGG) c.162_165delinsCAGG c.671-658_671-655delinsCAGG (n.671-658_671-655delinsCAGG) c.*3624_*3627delinsCAGG (n.*3624_*3627delinsCAGG) c.135_138delinsCAGG c.788-658_788-655delinsCAGG (n.788-658_788-655delinsCAGG) c.410-658_410-655delinsCAGG (n.410-658_410-655delinsCAGG) c.413-658_413-655delinsCAGG (n.413-658_413-655delinsCAGG) c.5-27739_5-27736delinsCAGG (n.5-27739_5-27736delinsCAGG) c.-43-17169_-43-17166delinsCAGG (n.-43-17169_-43-17166delinsCAGG) c.-99+33581_-99+33584delinsCAGG (n.-99+33581_-99+33584delinsCAGG) n.3977_3980delinsCAGG n.4018_4021delinsCAGG | |
| 17 | g.43091687_43091692delinsCCTGAG | CA2260782168 | BRCA1 | n.3903_3908delinsCTCAGG c.3839_3844delinsCTCAGG (p.Ser1280=) c.3713_3718delinsCTCAGG (p.Ser1238=) c.3836_3841delinsCTCAGG (p.Ser1279=) c.3761_3766delinsCTCAGG (p.Ser1254=) c.785-660_785-655delinsCTCAGG (n.785-660_785-655delinsCTCAGG) c.647-660_647-655delinsCTCAGG (n.647-660_647-655delinsCTCAGG) c.2951_2956delinsCTCAGG (p.Ser984=) c.3716_3721delinsCTCAGG (p.Ser1239=) c.3698_3703delinsCTCAGG (p.Ser1233=) c.665-660_665-655delinsCTCAGG (n.665-660_665-655delinsCTCAGG) c.707-660_707-655delinsCTCAGG (n.707-660_707-655delinsCTCAGG) c.160_165delinsCTCAGG c.671-660_671-655delinsCTCAGG (n.671-660_671-655delinsCTCAGG) c.*3622_*3627delinsCTCAGG (n.*3622_*3627delinsCTCAGG) c.133_138delinsCTCAGG c.788-660_788-655delinsCTCAGG (n.788-660_788-655delinsCTCAGG) c.410-660_410-655delinsCTCAGG (n.410-660_410-655delinsCTCAGG) c.413-660_413-655delinsCTCAGG (n.413-660_413-655delinsCTCAGG) c.5-27741_5-27736delinsCTCAGG (n.5-27741_5-27736delinsCTCAGG) c.-43-17171_-43-17166delinsCTCAGG (n.-43-17171_-43-17166delinsCTCAGG) c.-99+33579_-99+33584delinsCTCAGG (n.-99+33579_-99+33584delinsCTCAGG) n.3975_3980delinsCTCAGG n.4016_4021delinsCTCAGG | |
| 17 | g.43091688C>A | CA10594280 | BRCA1 | n.3907G>T c.3843G>T (p.Gln1281His) c.3717G>T (p.Gln1239His) c.3840G>T (p.Gln1280His) c.3765G>T (p.Gln1255His) c.785-656G>T (n.785-656G>T) c.647-656G>T (n.647-656G>T) c.2955G>T (p.Gln985His) c.3720G>T (p.Gln1240His) c.3702G>T (p.Gln1234His) c.665-656G>T (n.665-656G>T) c.707-656G>T (n.707-656G>T) c.164G>T c.671-656G>T (n.671-656G>T) c.*3626G>T (n.*3626G>T) c.137G>T c.788-656G>T (n.788-656G>T) c.410-656G>T (n.410-656G>T) c.413-656G>T (n.413-656G>T) c.5-27737G>T (n.5-27737G>T) c.-43-17167G>T (n.-43-17167G>T) c.-99+33583G>T (n.-99+33583G>T) n.3979G>T n.4020G>T | ClinVar dbSNP |
| 17 | g.43091688C= | CA2260782170 | BRCA1 | n.3907G= c.3843G= (p.Gln1281=) c.3717G= (p.Gln1239=) c.3840G= (p.Gln1280=) c.3765G= (p.Gln1255=) c.785-656G= (n.785-656G=) c.647-656G= (n.647-656G=) c.2955G= (p.Gln985=) c.3720G= (p.Gln1240=) c.3702G= (p.Gln1234=) c.665-656G= (n.665-656G=) c.707-656G= (n.707-656G=) c.164G= c.671-656G= (n.671-656G=) c.*3626G= (n.*3626G=) c.137G= c.788-656G= (n.788-656G=) c.410-656G= (n.410-656G=) c.413-656G= (n.413-656G=) c.5-27737G= (n.5-27737G=) c.-43-17167G= (n.-43-17167G=) c.-99+33583G= (n.-99+33583G=) n.3979G= n.4020G= | |
| 17 | g.43091688C>G | CA10594281 | BRCA1 | n.3907G>C c.3843G>C (p.Gln1281His) c.3717G>C (p.Gln1239His) c.3840G>C (p.Gln1280His) c.3765G>C (p.Gln1255His) c.785-656G>C (n.785-656G>C) c.647-656G>C (n.647-656G>C) c.2955G>C (p.Gln985His) c.3720G>C (p.Gln1240His) c.3702G>C (p.Gln1234His) c.665-656G>C (n.665-656G>C) c.707-656G>C (n.707-656G>C) c.164G>C c.671-656G>C (n.671-656G>C) c.*3626G>C (n.*3626G>C) c.137G>C c.788-656G>C (n.788-656G>C) c.410-656G>C (n.410-656G>C) c.413-656G>C (n.413-656G>C) c.5-27737G>C (n.5-27737G>C) c.-43-17167G>C (n.-43-17167G>C) c.-99+33583G>C (n.-99+33583G>C) n.3979G>C n.4020G>C | dbSNP |
| 17 | g.43091688C>T | CA500232160 | BRCA1 | n.3907G>A c.3843G>A (p.Gln1281=) c.3717G>A (p.Gln1239=) c.3840G>A (p.Gln1280=) c.3765G>A (p.Gln1255=) c.785-656G>A (n.785-656G>A) c.647-656G>A (n.647-656G>A) c.2955G>A (p.Gln985=) c.3720G>A (p.Gln1240=) c.3702G>A (p.Gln1234=) c.665-656G>A (n.665-656G>A) c.707-656G>A (n.707-656G>A) c.164G>A c.671-656G>A (n.671-656G>A) c.*3626G>A (n.*3626G>A) c.137G>A c.788-656G>A (n.788-656G>A) c.410-656G>A (n.410-656G>A) c.413-656G>A (n.413-656G>A) c.5-27737G>A (n.5-27737G>A) c.-43-17167G>A (n.-43-17167G>A) c.-99+33583G>A (n.-99+33583G>A) n.3979G>A n.4020G>A | dbSNP gnomAD v4 |
| 17 | g.43091688_43091690del | CA002474 | BRCA1 | n.3905_3907del c.3841_3843del (p.Gln1281del) c.3715_3717del (p.Gln1239del) c.3838_3840del (p.Gln1280del) c.3763_3765del (p.Gln1255del) c.785-658_785-656del (n.785-658_785-656del) c.647-658_647-656del (n.647-658_647-656del) c.2953_2955del (p.Gln985del) c.3718_3720del (p.Gln1240del) c.3700_3702del (p.Gln1234del) c.665-658_665-656del (n.665-658_665-656del) c.707-658_707-656del (n.707-658_707-656del) c.162_164del c.671-658_671-656del (n.671-658_671-656del) c.*3624_*3626del (n.*3624_*3626del) c.135_137del c.788-658_788-656del (n.788-658_788-656del) c.410-658_410-656del (n.410-658_410-656del) c.413-658_413-656del (n.413-658_413-656del) c.5-27739_5-27737del (n.5-27739_5-27737del) c.-43-17169_-43-17167del (n.-43-17169_-43-17167del) c.-99+33581_-99+33583del (n.-99+33581_-99+33583del) n.3977_3979del n.4018_4020del | ClinVar dbSNP |
| 17 | g.43091688_43091690delinsCTG | CA2260782169 | BRCA1 | n.3905_3907delinsCAG c.3841_3843delinsCAG (p.Gln1281=) c.3715_3717delinsCAG (p.Gln1239=) c.3838_3840delinsCAG (p.Gln1280=) c.3763_3765delinsCAG (p.Gln1255=) c.785-658_785-656delinsCAG (n.785-658_785-656delinsCAG) c.647-658_647-656delinsCAG (n.647-658_647-656delinsCAG) c.2953_2955delinsCAG (p.Gln985=) c.3718_3720delinsCAG (p.Gln1240=) c.3700_3702delinsCAG (p.Gln1234=) c.665-658_665-656delinsCAG (n.665-658_665-656delinsCAG) c.707-658_707-656delinsCAG (n.707-658_707-656delinsCAG) c.162_164delinsCAG c.671-658_671-656delinsCAG (n.671-658_671-656delinsCAG) c.*3624_*3626delinsCAG (n.*3624_*3626delinsCAG) c.135_137delinsCAG c.788-658_788-656delinsCAG (n.788-658_788-656delinsCAG) c.410-658_410-656delinsCAG (n.410-658_410-656delinsCAG) c.413-658_413-656delinsCAG (n.413-658_413-656delinsCAG) c.5-27739_5-27737delinsCAG (n.5-27739_5-27737delinsCAG) c.-43-17169_-43-17167delinsCAG (n.-43-17169_-43-17167delinsCAG) c.-99+33581_-99+33583delinsCAG (n.-99+33581_-99+33583delinsCAG) n.3977_3979delinsCAG n.4018_4020delinsCAG | |
| 17 | g.43091688_43091692del | CA10589720 | BRCA1 | n.3903_3907del c.3839_3843del (p.Ser1280Ter) c.3713_3717del (p.Ser1238Ter) c.3836_3840del (p.Ser1279Ter) c.3761_3765del (p.Ser1254Ter) c.785-660_785-656del (n.785-660_785-656del) c.647-660_647-656del (n.647-660_647-656del) c.2951_2955del (p.Ser984Ter) c.3716_3720del (p.Ser1239Ter) c.3698_3702del (p.Ser1233Ter) c.665-660_665-656del (n.665-660_665-656del) c.707-660_707-656del (n.707-660_707-656del) c.160_164del c.671-660_671-656del (n.671-660_671-656del) c.*3622_*3626del (n.*3622_*3626del) c.133_137del c.788-660_788-656del (n.788-660_788-656del) c.410-660_410-656del (n.410-660_410-656del) c.413-660_413-656del (n.413-660_413-656del) c.5-27741_5-27737del (n.5-27741_5-27737del) c.-43-17171_-43-17167del (n.-43-17171_-43-17167del) c.-99+33579_-99+33583del (n.-99+33579_-99+33583del) n.3975_3979del n.4016_4020del | ClinVar dbSNP |
| 17 | g.43091688_43091692delinsGCCT | CA002470 | BRCA1 | n.3903_3907delinsAGGC c.3839_3843delinsAGGC (p.Ser1280Ter) c.3713_3717delinsAGGC (p.Ser1238Ter) c.3836_3840delinsAGGC (p.Ser1279Ter) c.3761_3765delinsAGGC (p.Ser1254Ter) c.785-660_785-656delinsAGGC (n.785-660_785-656delinsAGGC) c.647-660_647-656delinsAGGC (n.647-660_647-656delinsAGGC) c.2951_2955delinsAGGC (p.Ser984Ter) c.3716_3720delinsAGGC (p.Ser1239Ter) c.3698_3702delinsAGGC (p.Ser1233Ter) c.665-660_665-656delinsAGGC (n.665-660_665-656delinsAGGC) c.707-660_707-656delinsAGGC (n.707-660_707-656delinsAGGC) c.160_164delinsAGGC c.671-660_671-656delinsAGGC (n.671-660_671-656delinsAGGC) c.*3622_*3626delinsAGGC (n.*3622_*3626delinsAGGC) c.133_137delinsAGGC c.788-660_788-656delinsAGGC (n.788-660_788-656delinsAGGC) c.410-660_410-656delinsAGGC (n.410-660_410-656delinsAGGC) c.413-660_413-656delinsAGGC (n.413-660_413-656delinsAGGC) c.5-27741_5-27737delinsAGGC (n.5-27741_5-27737delinsAGGC) c.-43-17171_-43-17167delinsAGGC (n.-43-17171_-43-17167delinsAGGC) c.-99+33579_-99+33583delinsAGGC (n.-99+33579_-99+33583delinsAGGC) n.3975_3979delinsAGGC n.4016_4020delinsAGGC | ClinVar dbSNP |
| 17 | g.43091689T>A | CA10594282 | BRCA1 | n.3906A>T c.3842A>T (p.Gln1281Leu) c.3716A>T (p.Gln1239Leu) c.3839A>T (p.Gln1280Leu) c.3764A>T (p.Gln1255Leu) c.785-657A>T (n.785-657A>T) c.647-657A>T (n.647-657A>T) c.2954A>T (p.Gln985Leu) c.3719A>T (p.Gln1240Leu) c.3701A>T (p.Gln1234Leu) c.665-657A>T (n.665-657A>T) c.707-657A>T (n.707-657A>T) c.163A>T c.671-657A>T (n.671-657A>T) c.*3625A>T (n.*3625A>T) c.136A>T c.788-657A>T (n.788-657A>T) c.410-657A>T (n.410-657A>T) c.413-657A>T (n.413-657A>T) c.5-27738A>T (n.5-27738A>T) c.-43-17168A>T (n.-43-17168A>T) c.-99+33582A>T (n.-99+33582A>T) n.3978A>T n.4019A>T | |
| 17 | g.43091689T>C | CA10594283 | BRCA1 | n.3906A>G c.3842A>G (p.Gln1281Arg) c.3716A>G (p.Gln1239Arg) c.3839A>G (p.Gln1280Arg) c.3764A>G (p.Gln1255Arg) c.785-657A>G (n.785-657A>G) c.647-657A>G (n.647-657A>G) c.2954A>G (p.Gln985Arg) c.3719A>G (p.Gln1240Arg) c.3701A>G (p.Gln1234Arg) c.665-657A>G (n.665-657A>G) c.707-657A>G (n.707-657A>G) c.163A>G c.671-657A>G (n.671-657A>G) c.*3625A>G (n.*3625A>G) c.136A>G c.788-657A>G (n.788-657A>G) c.410-657A>G (n.410-657A>G) c.413-657A>G (n.413-657A>G) c.5-27738A>G (n.5-27738A>G) c.-43-17168A>G (n.-43-17168A>G) c.-99+33582A>G (n.-99+33582A>G) n.3978A>G n.4019A>G | ClinVar dbSNP |
| 17 | g.43091689T>G | CA002476 | BRCA1 | n.3906A>C c.3842A>C (p.Gln1281Pro) c.3716A>C (p.Gln1239Pro) c.3839A>C (p.Gln1280Pro) c.3764A>C (p.Gln1255Pro) c.785-657A>C (n.785-657A>C) c.647-657A>C (n.647-657A>C) c.2954A>C (p.Gln985Pro) c.3719A>C (p.Gln1240Pro) c.3701A>C (p.Gln1234Pro) c.665-657A>C (n.665-657A>C) c.707-657A>C (n.707-657A>C) c.163A>C c.671-657A>C (n.671-657A>C) c.*3625A>C (n.*3625A>C) c.136A>C c.788-657A>C (n.788-657A>C) c.410-657A>C (n.410-657A>C) c.413-657A>C (n.413-657A>C) c.5-27738A>C (n.5-27738A>C) c.-43-17168A>C (n.-43-17168A>C) c.-99+33582A>C (n.-99+33582A>C) n.3978A>C n.4019A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.43091689T= | CA2260782171 | BRCA1 | n.3906A= c.3842A= (p.Gln1281=) c.3716A= (p.Gln1239=) c.3839A= (p.Gln1280=) c.3764A= (p.Gln1255=) c.785-657A= (n.785-657A=) c.647-657A= (n.647-657A=) c.2954A= (p.Gln985=) c.3719A= (p.Gln1240=) c.3701A= (p.Gln1234=) c.665-657A= (n.665-657A=) c.707-657A= (n.707-657A=) c.163A= c.671-657A= (n.671-657A=) c.*3625A= (n.*3625A=) c.136A= c.788-657A= (n.788-657A=) c.410-657A= (n.410-657A=) c.413-657A= (n.413-657A=) c.5-27738A= (n.5-27738A=) c.-43-17168A= (n.-43-17168A=) c.-99+33582A= (n.-99+33582A=) n.3978A= n.4019A= | |
| 17 | g.43091689_43091690del | CA002472 | BRCA1 | n.3905_3906del c.3841_3842del (p.Gln1281GlyfsTer5) c.3715_3716del (p.Gln1239GlyfsTer5) c.3838_3839del (p.Gln1280GlyfsTer5) c.3763_3764del (p.Gln1255GlyfsTer5) c.785-658_785-657del (n.785-658_785-657del) c.647-658_647-657del (n.647-658_647-657del) c.2953_2954del (p.Gln985GlyfsTer5) c.3718_3719del (p.Gln1240GlyfsTer5) c.3700_3701del (p.Gln1234GlyfsTer5) c.665-658_665-657del (n.665-658_665-657del) c.707-658_707-657del (n.707-658_707-657del) c.162_163del c.671-658_671-657del (n.671-658_671-657del) c.*3624_*3625del (n.*3624_*3625del) c.135_136del c.788-658_788-657del (n.788-658_788-657del) c.410-658_410-657del (n.410-658_410-657del) c.413-658_413-657del (n.413-658_413-657del) c.5-27739_5-27738del (n.5-27739_5-27738del) c.-43-17169_-43-17168del (n.-43-17169_-43-17168del) c.-99+33581_-99+33582del (n.-99+33581_-99+33582del) n.3977_3978del n.4018_4019del | ClinVar dbSNP |
| 17 | g.43091690G>A | CA002475 | BRCA1 | n.3905C>T c.3841C>T (p.Gln1281Ter) c.3715C>T (p.Gln1239Ter) c.3838C>T (p.Gln1280Ter) c.3763C>T (p.Gln1255Ter) c.785-658C>T (n.785-658C>T) c.647-658C>T (n.647-658C>T) c.2953C>T (p.Gln985Ter) c.3718C>T (p.Gln1240Ter) c.3700C>T (p.Gln1234Ter) c.665-658C>T (n.665-658C>T) c.707-658C>T (n.707-658C>T) c.162C>T c.671-658C>T (n.671-658C>T) c.*3624C>T (n.*3624C>T) c.135C>T c.788-658C>T (n.788-658C>T) c.410-658C>T (n.410-658C>T) c.413-658C>T (n.413-658C>T) c.5-27739C>T (n.5-27739C>T) c.-43-17169C>T (n.-43-17169C>T) c.-99+33581C>T (n.-99+33581C>T) n.3977C>T n.4018C>T | ClinVar dbSNP COSMIC |
| 17 | g.43091690G>C | CA10594284 | BRCA1 | n.3905C>G c.3841C>G (p.Gln1281Glu) c.3715C>G (p.Gln1239Glu) c.3838C>G (p.Gln1280Glu) c.3763C>G (p.Gln1255Glu) c.785-658C>G (n.785-658C>G) c.647-658C>G (n.647-658C>G) c.2953C>G (p.Gln985Glu) c.3718C>G (p.Gln1240Glu) c.3700C>G (p.Gln1234Glu) c.665-658C>G (n.665-658C>G) c.707-658C>G (n.707-658C>G) c.162C>G c.671-658C>G (n.671-658C>G) c.*3624C>G (n.*3624C>G) c.135C>G c.788-658C>G (n.788-658C>G) c.410-658C>G (n.410-658C>G) c.413-658C>G (n.413-658C>G) c.5-27739C>G (n.5-27739C>G) c.-43-17169C>G (n.-43-17169C>G) c.-99+33581C>G (n.-99+33581C>G) n.3977C>G n.4018C>G | ClinVar dbSNP |
| 17 | g.43091690G= | CA2260782173 | BRCA1 | n.3905C= c.3841C= (p.Gln1281=) c.3715C= (p.Gln1239=) c.3838C= (p.Gln1280=) c.3763C= (p.Gln1255=) c.785-658C= (n.785-658C=) c.647-658C= (n.647-658C=) c.2953C= (p.Gln985=) c.3718C= (p.Gln1240=) c.3700C= (p.Gln1234=) c.665-658C= (n.665-658C=) c.707-658C= (n.707-658C=) c.162C= c.671-658C= (n.671-658C=) c.*3624C= (n.*3624C=) c.135C= c.788-658C= (n.788-658C=) c.410-658C= (n.410-658C=) c.413-658C= (n.413-658C=) c.5-27739C= (n.5-27739C=) c.-43-17169C= (n.-43-17169C=) c.-99+33581C= (n.-99+33581C=) n.3977C= n.4018C= | |
| 17 | g.43091690G>T | CA10594285 | BRCA1 | n.3905C>A c.3841C>A (p.Gln1281Lys) c.3715C>A (p.Gln1239Lys) c.3838C>A (p.Gln1280Lys) c.3763C>A (p.Gln1255Lys) c.785-658C>A (n.785-658C>A) c.647-658C>A (n.647-658C>A) c.2953C>A (p.Gln985Lys) c.3718C>A (p.Gln1240Lys) c.3700C>A (p.Gln1234Lys) c.665-658C>A (n.665-658C>A) c.707-658C>A (n.707-658C>A) c.162C>A c.671-658C>A (n.671-658C>A) c.*3624C>A (n.*3624C>A) c.135C>A c.788-658C>A (n.788-658C>A) c.410-658C>A (n.410-658C>A) c.413-658C>A (n.413-658C>A) c.5-27739C>A (n.5-27739C>A) c.-43-17169C>A (n.-43-17169C>A) c.-99+33581C>A (n.-99+33581C>A) n.3977C>A n.4018C>A | |
| 17 | g.43091690_43091692del | CA2638062632 | BRCA1 | n.3903_3905del c.3839_3841del (p.Ser1280Ter) c.3713_3715del (p.Ser1238Ter) c.3836_3838del (p.Ser1279Ter) c.3761_3763del (p.Ser1254Ter) c.785-660_785-658del (n.785-660_785-658del) c.647-660_647-658del (n.647-660_647-658del) c.2951_2953del (p.Ser984Ter) c.3716_3718del (p.Ser1239Ter) c.3698_3700del (p.Ser1233Ter) c.665-660_665-658del (n.665-660_665-658del) c.707-660_707-658del (n.707-660_707-658del) c.160_162del c.671-660_671-658del (n.671-660_671-658del) c.*3622_*3624del (n.*3622_*3624del) c.133_135del c.788-660_788-658del (n.788-660_788-658del) c.410-660_410-658del (n.410-660_410-658del) c.413-660_413-658del (n.413-660_413-658del) c.5-27741_5-27739del (n.5-27741_5-27739del) c.-43-17171_-43-17169del (n.-43-17171_-43-17169del) c.-99+33579_-99+33581del (n.-99+33579_-99+33581del) n.3975_3977del n.4016_4018del | gnomAD v4 |
| 17 | g.43091690_43091694delinsGAGAT | CA2260782172 | BRCA1 | n.3901_3905delinsATCTC c.3837_3841delinsATCTC (p.Ala1279=) c.3711_3715delinsATCTC (p.Ala1237=) c.3834_3838delinsATCTC (p.Ala1278=) c.3759_3763delinsATCTC (p.Ala1253=) c.785-662_785-658delinsATCTC (n.785-662_785-658delinsATCTC) c.647-662_647-658delinsATCTC (n.647-662_647-658delinsATCTC) c.2949_2953delinsATCTC (p.Ala983=) c.3714_3718delinsATCTC (p.Ala1238=) c.3696_3700delinsATCTC (p.Ala1232=) c.665-662_665-658delinsATCTC (n.665-662_665-658delinsATCTC) c.707-662_707-658delinsATCTC (n.707-662_707-658delinsATCTC) c.158_162delinsATCTC c.671-662_671-658delinsATCTC (n.671-662_671-658delinsATCTC) c.*3620_*3624delinsATCTC (n.*3620_*3624delinsATCTC) c.131_135delinsATCTC c.788-662_788-658delinsATCTC (n.788-662_788-658delinsATCTC) c.410-662_410-658delinsATCTC (n.410-662_410-658delinsATCTC) c.413-662_413-658delinsATCTC (n.413-662_413-658delinsATCTC) c.5-27743_5-27739delinsATCTC (n.5-27743_5-27739delinsATCTC) c.-43-17173_-43-17169delinsATCTC (n.-43-17173_-43-17169delinsATCTC) c.-99+33577_-99+33581delinsATCTC (n.-99+33577_-99+33581delinsATCTC) n.3973_3977delinsATCTC n.4014_4018delinsATCTC | |
| 17 | g.43091691A>C | CA500232161 | BRCA1 | n.3904T>G c.3840T>G (p.Ser1280=) c.3714T>G (p.Ser1238=) c.3837T>G (p.Ser1279=) c.3762T>G (p.Ser1254=) c.785-659T>G (n.785-659T>G) c.647-659T>G (n.647-659T>G) c.2952T>G (p.Ser984=) c.3717T>G (p.Ser1239=) c.3699T>G (p.Ser1233=) c.665-659T>G (n.665-659T>G) c.707-659T>G (n.707-659T>G) c.161T>G c.671-659T>G (n.671-659T>G) c.*3623T>G (n.*3623T>G) c.134T>G c.788-659T>G (n.788-659T>G) c.410-659T>G (n.410-659T>G) c.413-659T>G (n.413-659T>G) c.5-27740T>G (n.5-27740T>G) c.-43-17170T>G (n.-43-17170T>G) c.-99+33580T>G (n.-99+33580T>G) n.3976T>G n.4017T>G |