Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.43063955_43071241delCA10575957BRCA1c.4674_5072del
c.4677_5075del
c.4551_4949del
c.4671_5069del
c.4599_4997del
c.1365_1763del
c.1227_1625del
c.3789_4187del
c.4554_4952del
c.4743_5141del
c.4536_4934del
c.1239_1637del
c.4740_5138del
c.1064_1462del
c.1251_1649del
c.*4460_*4858del
c.990_1388del
c.5-7286_5del
c.150_548del
c.-98-21047_-98-13761del (n.-98-21047_-98-13761del)
n.4813_5211del
n.4854_5252del
17g.43066661_43072815delCA913190336BRCA1c.4672+1532_5071+963del
c.4675+1532_5074+963del
c.4549+1532_4948+963del
c.4669+1532_5068+963del
c.4597+1532_4996+963del
c.1363+1532_1762+963del
c.1225+1532_1624+963del
c.3787+1532_4186+963del
c.4552+1532_4951+963del
c.4741+1532_5140+963del
c.4534+1532_4933+963del
c.1237+1532_1636+963del
c.4738+1532_5137+963del
c.1062+1532_1461+963del
c.1249+1532_1648+963del
c.*4458+1532_*4857+963del
c.988+1532_1387+963del
c.5-8848_5-2694del (n.5-8848_5-2694del)
c.148+1532_547+963del
c.-98-22609_-98-16455del (n.-98-22609_-98-16455del)
n.4811+1532_5210+963del
n.4852+1532_5251+963del
 ClinVar
17g.43067611_43071241delCA2581463406BRCA1c.4673_5071del
c.4676_5074del
c.4550_4948del
c.4670_5068del
c.4598_4996del
c.1364_1762del
c.1226_1624del
c.3788_4186del
c.4553_4951del
c.4742_5140del
c.4535_4933del
c.1238_1636del
c.4739_5137del
c.1063_1461del
c.1250_1648del
c.*4459_*4857del
c.989_1387del
c.5-7287_5-3657del (n.5-7287_5-3657del)
c.149_547del
c.-98-21048_-98-17418del (n.-98-21048_-98-17418del)
n.4812_5210del
n.4853_5251del
17g.43070037_43072667delCA10602585BRCA1c.4673-1420_4983+900del
c.4676-1420_4986+900del
c.4550-1420_4860+900del
c.4670-1420_4980+900del
c.4598-1420_4908+900del
c.1364-1420_1674+900del
c.1226-1420_1536+900del
c.3788-1420_4098+900del
c.4553-1420_4863+900del
c.4742-1420_5052+900del
c.4535-1420_4845+900del
c.1238-1420_1548+900del
c.4739-1420_5049+900del
c.1063-1420_1373+900del
c.1250-1420_1560+900del
c.*4459-1420_*4769+900del
c.989-1420_1299+900del
c.5-8707_5-6077del (n.5-8707_5-6077del)
c.149-1420_459+900del
c.-98-22468_-98-19838del (n.-98-22468_-98-19838del)
n.4812-1420_5122+900del
n.4853-1420_5163+900del
 ClinVar
17g.43070145_43072775delCA2697559917BRCA1c.4673-1528_4983+792del
c.4676-1528_4986+792del
c.4550-1528_4860+792del
c.4670-1528_4980+792del
c.4598-1528_4908+792del
c.1364-1528_1674+792del
c.1226-1528_1536+792del
c.3788-1528_4098+792del
c.4553-1528_4863+792del
c.4742-1528_5052+792del
c.4535-1528_4845+792del
c.1238-1528_1548+792del
c.4739-1528_5049+792del
c.1063-1528_1373+792del
c.1250-1528_1560+792del
c.*4459-1528_*4769+792del
c.989-1528_1299+792del
c.5-8815_5-6185del (n.5-8815_5-6185del)
c.149-1528_459+792del
c.-98-22576_-98-19946del (n.-98-22576_-98-19946del)
n.4812-1528_5122+792del
n.4853-1528_5163+792del
 ClinVar
17g.43070208_43078359dupCA16043350BRCA1c.4358-1732_4983+736dup
c.4358-1729_4986+736dup
c.4232-1729_4860+736dup
c.4352-1729_4980+736dup
c.4280-1729_4908+736dup
c.1046-1729_1674+736dup
c.908-1729_1536+736dup
c.3470-1729_4098+736dup
c.4235-1729_4863+736dup
c.4423+991_5052+736dup
c.4217-1729_4845+736dup
c.923-1732_1548+736dup
c.4423+991_5049+736dup
c.744+991_1373+736dup
c.932-1729_1560+736dup
c.*4141-1729_*4769+736dup
c.1049-1732_1674+736dup
c.671-1729_1299+736dup
c.5-14392_5-6241dup (n.5-14392_5-6241dup)
c.-43-3822_459+736dup
c.-98-28153_-98-20002dup (n.-98-28153_-98-20002dup)
n.4494-1729_5122+736dup
n.4535-1729_5163+736dup
17g.43070192_43078360dupCA2580612611BRCA1c.4358-1749_4983+736dup
c.4358-1746_4986+736dup
c.4232-1746_4860+736dup
c.4352-1746_4980+736dup
c.4280-1746_4908+736dup
c.1046-1746_1674+736dup
c.908-1746_1536+736dup
c.3470-1746_4098+736dup
c.4235-1746_4863+736dup
c.4423+974_5052+736dup
c.4217-1746_4845+736dup
c.923-1749_1548+736dup
c.4423+974_5049+736dup
c.744+974_1373+736dup
c.932-1746_1560+736dup
c.*4141-1746_*4769+736dup
c.1049-1749_1674+736dup
c.671-1746_1299+736dup
c.5-14409_5-6241dup (n.5-14409_5-6241dup)
c.-43-3839_459+736dup
c.-98-28170_-98-20002dup (n.-98-28170_-98-20002dup)
n.4494-1746_5122+736dup
n.4535-1746_5163+736dup
17g.43071163_43071164delinsGCCA2260772976BRCA1c.4747_4748delinsGC (p.Ala1583=)
c.4750_4751delinsGC (p.Ala1584=)
c.4624_4625delinsGC (p.Ala1542=)
c.4744_4745delinsGC (p.Ala1582=)
c.4672_4673delinsGC (p.Ala1558=)
c.1438_1439delinsGC (p.Ala480=)
c.1300_1301delinsGC (p.Ala434=)
c.3862_3863delinsGC (p.Ala1288=)
c.4627_4628delinsGC (p.Ala1543=)
c.4816_4817delinsGC (p.Ala1606=)
c.4609_4610delinsGC (p.Ala1537=)
c.1312_1313delinsGC (p.Ala438=)
c.1357_1358delinsGC (p.Ala453=)
c.4813_4814delinsGC (p.Ala1605=)
c.1137_1138delinsGC
c.1324_1325delinsGC (p.Ala442=)
c.*4533_*4534delinsGC (n.*4533_*4534delinsGC)
c.1063_1064delinsGC (p.Ala355=)
c.5-7213_5-7212delinsGC (n.5-7213_5-7212delinsGC)
c.223_224delinsGC (p.Ala75=)
c.-98-20974_-98-20973delinsGC (n.-98-20974_-98-20973delinsGC)
n.4886_4887delinsGC
n.4927_4928delinsGC
17g.43071163_43071165delinsGCTCA2260772974BRCA1c.4746_4748delinsAGC (p.Arg1582=)
c.4749_4751delinsAGC (p.Arg1583=)
c.4623_4625delinsAGC (p.Arg1541=)
c.4743_4745delinsAGC (p.Arg1581=)
c.4671_4673delinsAGC (p.Arg1557=)
c.1437_1439delinsAGC (p.Arg479=)
c.1299_1301delinsAGC (p.Arg433=)
c.3861_3863delinsAGC (p.Arg1287=)
c.4626_4628delinsAGC (p.Arg1542=)
c.4815_4817delinsAGC (p.Arg1605=)
c.4608_4610delinsAGC (p.Arg1536=)
c.1311_1313delinsAGC (p.Arg437=)
c.1356_1358delinsAGC (p.Arg452=)
c.4812_4814delinsAGC (p.Arg1604=)
c.1136_1138delinsAGC
c.1323_1325delinsAGC (p.Arg441=)
c.*4532_*4534delinsAGC (n.*4532_*4534delinsAGC)
c.1062_1064delinsAGC (p.Arg354=)
c.5-7214_5-7212delinsAGC (n.5-7214_5-7212delinsAGC)
c.222_224delinsAGC (p.Arg74=)
c.-98-20975_-98-20973delinsAGC (n.-98-20975_-98-20973delinsAGC)
n.4885_4887delinsAGC
n.4926_4928delinsAGC
17g.43071164delCA1139665582BRCA1c.4747del (p.Ala1583ProfsTer17)
c.4750del (p.Ala1584ProfsTer17)
c.4624del (p.Ala1542ProfsTer17)
c.4744del (p.Ala1582ProfsTer17)
c.4672del (p.Ala1558ProfsTer17)
c.1438del (p.Ala480ProfsTer17)
c.1300del (p.Ala434ProfsTer17)
c.3862del (p.Ala1288ProfsTer17)
c.4627del (p.Ala1543ProfsTer17)
c.4816del (p.Ala1606ProfsTer17)
c.4609del (p.Ala1537ProfsTer17)
c.1312del (p.Ala438ProfsTer17)
c.1357del (p.Ala453ProfsTer17)
c.4813del (p.Ala1605ProfsTer17)
c.1137del
c.1324del (p.Ala442ProfsTer17)
c.*4533del (n.*4533del)
c.1063del (p.Ala355ProfsTer17)
c.5-7213del (n.5-7213del)
c.223del (p.Ala75ProfsTer17)
c.-98-20974del (n.-98-20974del)
n.4886del
n.4927del
 ClinVar dbSNP
17g.43071164C>ACA003005BRCA1c.4747G>T (p.Ala1583Ser)
c.4750G>T (p.Ala1584Ser)
c.4624G>T (p.Ala1542Ser)
c.4744G>T (p.Ala1582Ser)
c.4672G>T (p.Ala1558Ser)
c.1438G>T (p.Ala480Ser)
c.1300G>T (p.Ala434Ser)
c.3862G>T (p.Ala1288Ser)
c.4627G>T (p.Ala1543Ser)
c.4816G>T (p.Ala1606Ser)
c.4609G>T (p.Ala1537Ser)
c.1312G>T (p.Ala438Ser)
c.1357G>T (p.Ala453Ser)
c.4813G>T (p.Ala1605Ser)
c.1137G>T
c.1324G>T (p.Ala442Ser)
c.*4533G>T (n.*4533G>T)
c.1063G>T (p.Ala355Ser)
c.5-7213G>T (n.5-7213G>T)
c.223G>T (p.Ala75Ser)
c.-98-20974G>T (n.-98-20974G>T)
n.4886G>T
n.4927G>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43071164C=CA2260772977BRCA1c.4747G= (p.Ala1583=)
c.4750G= (p.Ala1584=)
c.4624G= (p.Ala1542=)
c.4744G= (p.Ala1582=)
c.4672G= (p.Ala1558=)
c.1438G= (p.Ala480=)
c.1300G= (p.Ala434=)
c.3862G= (p.Ala1288=)
c.4627G= (p.Ala1543=)
c.4816G= (p.Ala1606=)
c.4609G= (p.Ala1537=)
c.1312G= (p.Ala438=)
c.1357G= (p.Ala453=)
c.4813G= (p.Ala1605=)
c.1137G=
c.1324G= (p.Ala442=)
c.*4533G= (n.*4533G=)
c.1063G= (p.Ala355=)
c.5-7213G= (n.5-7213G=)
c.223G= (p.Ala75=)
c.-98-20974G= (n.-98-20974G=)
n.4886G=
n.4927G=
17g.43071164C>GCA10592008BRCA1c.4747G>C (p.Ala1583Pro)
c.4750G>C (p.Ala1584Pro)
c.4624G>C (p.Ala1542Pro)
c.4744G>C (p.Ala1582Pro)
c.4672G>C (p.Ala1558Pro)
c.1438G>C (p.Ala480Pro)
c.1300G>C (p.Ala434Pro)
c.3862G>C (p.Ala1288Pro)
c.4627G>C (p.Ala1543Pro)
c.4816G>C (p.Ala1606Pro)
c.4609G>C (p.Ala1537Pro)
c.1312G>C (p.Ala438Pro)
c.1357G>C (p.Ala453Pro)
c.4813G>C (p.Ala1605Pro)
c.1137G>C
c.1324G>C (p.Ala442Pro)
c.*4533G>C (n.*4533G>C)
c.1063G>C (p.Ala355Pro)
c.5-7213G>C (n.5-7213G>C)
c.223G>C (p.Ala75Pro)
c.-98-20974G>C (n.-98-20974G>C)
n.4886G>C
n.4927G>C
 dbSNP
17g.43071164C>TCA10592009BRCA1c.4747G>A (p.Ala1583Thr)
c.4750G>A (p.Ala1584Thr)
c.4624G>A (p.Ala1542Thr)
c.4744G>A (p.Ala1582Thr)
c.4672G>A (p.Ala1558Thr)
c.1438G>A (p.Ala480Thr)
c.1300G>A (p.Ala434Thr)
c.3862G>A (p.Ala1288Thr)
c.4627G>A (p.Ala1543Thr)
c.4816G>A (p.Ala1606Thr)
c.4609G>A (p.Ala1537Thr)
c.1312G>A (p.Ala438Thr)
c.1357G>A (p.Ala453Thr)
c.4813G>A (p.Ala1605Thr)
c.1137G>A
c.1324G>A (p.Ala442Thr)
c.*4533G>A (n.*4533G>A)
c.1063G>A (p.Ala355Thr)
c.5-7213G>A (n.5-7213G>A)
c.223G>A (p.Ala75Thr)
c.-98-20974G>A (n.-98-20974G>A)
n.4886G>A
n.4927G>A
 dbSNP
17g.43071166_43071167delCA003004BRCA1c.4746_4747del (p.Arg1582SerfsTer?)
c.4749_4750del (p.Arg1583SerfsTer?)
c.4623_4624del (p.Arg1541SerfsTer?)
c.4743_4744del (p.Arg1581SerfsTer?)
c.4671_4672del (p.Arg1557SerfsTer?)
c.1437_1438del (p.Arg479SerfsTer?)
c.1299_1300del (p.Arg433SerfsTer?)
c.3861_3862del (p.Arg1287SerfsTer?)
c.4626_4627del (p.Arg1542SerfsTer?)
c.4815_4816del (p.Arg1605SerfsTer?)
c.4608_4609del (p.Arg1536SerfsTer?)
c.1311_1312del (p.Arg437SerfsTer?)
c.1356_1357del (p.Arg452SerfsTer?)
c.4812_4813del (p.Arg1604SerfsTer?)
c.1136_1137del
c.1323_1324del (p.Arg441SerfsTer?)
c.*4532_*4533del (n.*4532_*4533del)
c.1062_1063del (p.Arg354SerfsTer?)
c.5-7214_5-7213del (n.5-7214_5-7213del)
c.222_223del (p.Arg74SerfsTer?)
c.-98-20975_-98-20974del (n.-98-20975_-98-20974del)
n.4885_4886del
n.4926_4927del
 ClinVar dbSNP
17g.43071165T>ACA10592010BRCA1c.4746A>T (p.Arg1582Ser)
c.4749A>T (p.Arg1583Ser)
c.4623A>T (p.Arg1541Ser)
c.4743A>T (p.Arg1581Ser)
c.4671A>T (p.Arg1557Ser)
c.1437A>T (p.Arg479Ser)
c.1299A>T (p.Arg433Ser)
c.3861A>T (p.Arg1287Ser)
c.4626A>T (p.Arg1542Ser)
c.4815A>T (p.Arg1605Ser)
c.4608A>T (p.Arg1536Ser)
c.1311A>T (p.Arg437Ser)
c.1356A>T (p.Arg452Ser)
c.4812A>T (p.Arg1604Ser)
c.1136A>T
c.1323A>T (p.Arg441Ser)
c.*4532A>T (n.*4532A>T)
c.1062A>T (p.Arg354Ser)
c.5-7214A>T (n.5-7214A>T)
c.222A>T (p.Arg74Ser)
c.-98-20975A>T (n.-98-20975A>T)
n.4885A>T
n.4926A>T
 ClinVar dbSNP
17g.43071165T>CCA500231866BRCA1c.4746A>G (p.Arg1582=)
c.4749A>G (p.Arg1583=)
c.4623A>G (p.Arg1541=)
c.4743A>G (p.Arg1581=)
c.4671A>G (p.Arg1557=)
c.1437A>G (p.Arg479=)
c.1299A>G (p.Arg433=)
c.3861A>G (p.Arg1287=)
c.4626A>G (p.Arg1542=)
c.4815A>G (p.Arg1605=)
c.4608A>G (p.Arg1536=)
c.1311A>G (p.Arg437=)
c.1356A>G (p.Arg452=)
c.4812A>G (p.Arg1604=)
c.1136A>G
c.1323A>G (p.Arg441=)
c.*4532A>G (n.*4532A>G)
c.1062A>G (p.Arg354=)
c.5-7214A>G (n.5-7214A>G)
c.222A>G (p.Arg74=)
c.-98-20975A>G (n.-98-20975A>G)
n.4885A>G
n.4926A>G
 ClinVar dbSNP
17g.43071165T>GCA10592011BRCA1c.4746A>C (p.Arg1582Ser)
c.4749A>C (p.Arg1583Ser)
c.4623A>C (p.Arg1541Ser)
c.4743A>C (p.Arg1581Ser)
c.4671A>C (p.Arg1557Ser)
c.1437A>C (p.Arg479Ser)
c.1299A>C (p.Arg433Ser)
c.3861A>C (p.Arg1287Ser)
c.4626A>C (p.Arg1542Ser)
c.4815A>C (p.Arg1605Ser)
c.4608A>C (p.Arg1536Ser)
c.1311A>C (p.Arg437Ser)
c.1356A>C (p.Arg452Ser)
c.4812A>C (p.Arg1604Ser)
c.1136A>C
c.1323A>C (p.Arg441Ser)
c.*4532A>C (n.*4532A>C)
c.1062A>C (p.Arg354Ser)
c.5-7214A>C (n.5-7214A>C)
c.222A>C (p.Arg74Ser)
c.-98-20975A>C (n.-98-20975A>C)
n.4885A>C
n.4926A>C
17g.43071165T=CA2260772978BRCA1c.4746A= (p.Arg1582=)
c.4749A= (p.Arg1583=)
c.4623A= (p.Arg1541=)
c.4743A= (p.Arg1581=)
c.4671A= (p.Arg1557=)
c.1437A= (p.Arg479=)
c.1299A= (p.Arg433=)
c.3861A= (p.Arg1287=)
c.4626A= (p.Arg1542=)
c.4815A= (p.Arg1605=)
c.4608A= (p.Arg1536=)
c.1311A= (p.Arg437=)
c.1356A= (p.Arg452=)
c.4812A= (p.Arg1604=)
c.1136A=
c.1323A= (p.Arg441=)
c.*4532A= (n.*4532A=)
c.1062A= (p.Arg354=)
c.5-7214A= (n.5-7214A=)
c.222A= (p.Arg74=)
c.-98-20975A= (n.-98-20975A=)
n.4885A=
n.4926A=
17g.43071166C>ACA10592012BRCA1c.4745G>T (p.Arg1582Ile)
c.4748G>T (p.Arg1583Ile)
c.4622G>T (p.Arg1541Ile)
c.4742G>T (p.Arg1581Ile)
c.4670G>T (p.Arg1557Ile)
c.1436G>T (p.Arg479Ile)
c.1298G>T (p.Arg433Ile)
c.3860G>T (p.Arg1287Ile)
c.4625G>T (p.Arg1542Ile)
c.4814G>T (p.Arg1605Ile)
c.4607G>T (p.Arg1536Ile)
c.1310G>T (p.Arg437Ile)
c.1355G>T (p.Arg452Ile)
c.4811G>T (p.Arg1604Ile)
c.1135G>T
c.1322G>T (p.Arg441Ile)
c.*4531G>T (n.*4531G>T)
c.1061G>T (p.Arg354Ile)
c.5-7215G>T (n.5-7215G>T)
c.221G>T (p.Arg74Ile)
c.-98-20976G>T (n.-98-20976G>T)
n.4884G>T
n.4925G>T
 dbSNP
17g.43071166C=CA2260772979BRCA1c.4745G= (p.Arg1582=)
c.4748G= (p.Arg1583=)
c.4622G= (p.Arg1541=)
c.4742G= (p.Arg1581=)
c.4670G= (p.Arg1557=)
c.1436G= (p.Arg479=)
c.1298G= (p.Arg433=)
c.3860G= (p.Arg1287=)
c.4625G= (p.Arg1542=)
c.4814G= (p.Arg1605=)
c.4607G= (p.Arg1536=)
c.1310G= (p.Arg437=)
c.1355G= (p.Arg452=)
c.4811G= (p.Arg1604=)
c.1135G=
c.1322G= (p.Arg441=)
c.*4531G= (n.*4531G=)
c.1061G= (p.Arg354=)
c.5-7215G= (n.5-7215G=)
c.221G= (p.Arg74=)
c.-98-20976G= (n.-98-20976G=)
n.4884G=
n.4925G=
17g.43071166C>GCA10592013BRCA1c.4745G>C (p.Arg1582Thr)
c.4748G>C (p.Arg1583Thr)
c.4622G>C (p.Arg1541Thr)
c.4742G>C (p.Arg1581Thr)
c.4670G>C (p.Arg1557Thr)
c.1436G>C (p.Arg479Thr)
c.1298G>C (p.Arg433Thr)
c.3860G>C (p.Arg1287Thr)
c.4625G>C (p.Arg1542Thr)
c.4814G>C (p.Arg1605Thr)
c.4607G>C (p.Arg1536Thr)
c.1310G>C (p.Arg437Thr)
c.1355G>C (p.Arg452Thr)
c.4811G>C (p.Arg1604Thr)
c.1135G>C
c.1322G>C (p.Arg441Thr)
c.*4531G>C (n.*4531G>C)
c.1061G>C (p.Arg354Thr)
c.5-7215G>C (n.5-7215G>C)
c.221G>C (p.Arg74Thr)
c.-98-20976G>C (n.-98-20976G>C)
n.4884G>C
n.4925G>C
 ClinVar dbSNP gnomAD v4
17g.43071166C>TCA052895BRCA1c.4745G>A (p.Arg1582Lys)
c.4748G>A (p.Arg1583Lys)
c.4622G>A (p.Arg1541Lys)
c.4742G>A (p.Arg1581Lys)
c.4670G>A (p.Arg1557Lys)
c.1436G>A (p.Arg479Lys)
c.1298G>A (p.Arg433Lys)
c.3860G>A (p.Arg1287Lys)
c.4625G>A (p.Arg1542Lys)
c.4814G>A (p.Arg1605Lys)
c.4607G>A (p.Arg1536Lys)
c.1310G>A (p.Arg437Lys)
c.1355G>A (p.Arg452Lys)
c.4811G>A (p.Arg1604Lys)
c.1135G>A
c.1322G>A (p.Arg441Lys)
c.*4531G>A (n.*4531G>A)
c.1061G>A (p.Arg354Lys)
c.5-7215G>A (n.5-7215G>A)
c.221G>A (p.Arg74Lys)
c.-98-20976G>A (n.-98-20976G>A)
n.4884G>A
n.4925G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43071167T>ACA10592014BRCA1c.4744A>T (p.Arg1582Ter)
c.4747A>T (p.Arg1583Ter)
c.4621A>T (p.Arg1541Ter)
c.4741A>T (p.Arg1581Ter)
c.4669A>T (p.Arg1557Ter)
c.1435A>T (p.Arg479Ter)
c.1297A>T (p.Arg433Ter)
c.3859A>T (p.Arg1287Ter)
c.4624A>T (p.Arg1542Ter)
c.4813A>T (p.Arg1605Ter)
c.4606A>T (p.Arg1536Ter)
c.1309A>T (p.Arg437Ter)
c.1354A>T (p.Arg452Ter)
c.4810A>T (p.Arg1604Ter)
c.1134A>T
c.1321A>T (p.Arg441Ter)
c.*4530A>T (n.*4530A>T)
c.1060A>T (p.Arg354Ter)
c.5-7216A>T (n.5-7216A>T)
c.220A>T (p.Arg74Ter)
c.-98-20977A>T (n.-98-20977A>T)
n.4883A>T
n.4924A>T
 dbSNP
17g.43071167T>CCA10592015BRCA1c.4744A>G (p.Arg1582Gly)
c.4747A>G (p.Arg1583Gly)
c.4621A>G (p.Arg1541Gly)
c.4741A>G (p.Arg1581Gly)
c.4669A>G (p.Arg1557Gly)
c.1435A>G (p.Arg479Gly)
c.1297A>G (p.Arg433Gly)
c.3859A>G (p.Arg1287Gly)
c.4624A>G (p.Arg1542Gly)
c.4813A>G (p.Arg1605Gly)
c.4606A>G (p.Arg1536Gly)
c.1309A>G (p.Arg437Gly)
c.1354A>G (p.Arg452Gly)
c.4810A>G (p.Arg1604Gly)
c.1134A>G
c.1321A>G (p.Arg441Gly)
c.*4530A>G (n.*4530A>G)
c.1060A>G (p.Arg354Gly)
c.5-7216A>G (n.5-7216A>G)
c.220A>G (p.Arg74Gly)
c.-98-20977A>G (n.-98-20977A>G)
n.4883A>G
n.4924A>G
 ClinVar dbSNP
17g.43071167T>GCA500231867BRCA1c.4744A>C (p.Arg1582=)
c.4747A>C (p.Arg1583=)
c.4621A>C (p.Arg1541=)
c.4741A>C (p.Arg1581=)
c.4669A>C (p.Arg1557=)
c.1435A>C (p.Arg479=)
c.1297A>C (p.Arg433=)
c.3859A>C (p.Arg1287=)
c.4624A>C (p.Arg1542=)
c.4813A>C (p.Arg1605=)
c.4606A>C (p.Arg1536=)
c.1309A>C (p.Arg437=)
c.1354A>C (p.Arg452=)
c.4810A>C (p.Arg1604=)
c.1134A>C
c.1321A>C (p.Arg441=)
c.*4530A>C (n.*4530A>C)
c.1060A>C (p.Arg354=)
c.5-7216A>C (n.5-7216A>C)
c.220A>C (p.Arg74=)
c.-98-20977A>C (n.-98-20977A>C)
n.4883A>C
n.4924A>C
 dbSNP
17g.43071167T=CA2260772980BRCA1c.4744A= (p.Arg1582=)
c.4747A= (p.Arg1583=)
c.4621A= (p.Arg1541=)
c.4741A= (p.Arg1581=)
c.4669A= (p.Arg1557=)
c.1435A= (p.Arg479=)
c.1297A= (p.Arg433=)
c.3859A= (p.Arg1287=)
c.4624A= (p.Arg1542=)
c.4813A= (p.Arg1605=)
c.4606A= (p.Arg1536=)
c.1309A= (p.Arg437=)
c.1354A= (p.Arg452=)
c.4810A= (p.Arg1604=)
c.1134A=
c.1321A= (p.Arg441=)
c.*4530A= (n.*4530A=)
c.1060A= (p.Arg354=)
c.5-7216A= (n.5-7216A=)
c.220A= (p.Arg74=)
c.-98-20977A= (n.-98-20977A=)
n.4883A=
n.4924A=
17g.43071168G>ACA500231868BRCA1c.4743C>T (p.Asp1581=)
c.4746C>T (p.Asp1582=)
c.4620C>T (p.Asp1540=)
c.4740C>T (p.Asp1580=)
c.4668C>T (p.Asp1556=)
c.1434C>T (p.Asp478=)
c.1296C>T (p.Asp432=)
c.3858C>T (p.Asp1286=)
c.4623C>T (p.Asp1541=)
c.4812C>T (p.Asp1604=)
c.4605C>T (p.Asp1535=)
c.1308C>T (p.Asp436=)
c.1353C>T (p.Asp451=)
c.4809C>T (p.Asp1603=)
c.1133C>T
c.1320C>T (p.Asp440=)
c.*4529C>T (n.*4529C>T)
c.1059C>T (p.Asp353=)
c.5-7217C>T (n.5-7217C>T)
c.219C>T (p.Asp73=)
c.-98-20978C>T (n.-98-20978C>T)
n.4882C>T
n.4923C>T
 ClinVar dbSNP gnomAD v2
17g.43071168G>CCA10592016BRCA1c.4743C>G (p.Asp1581Glu)
c.4746C>G (p.Asp1582Glu)
c.4620C>G (p.Asp1540Glu)
c.4740C>G (p.Asp1580Glu)
c.4668C>G (p.Asp1556Glu)
c.1434C>G (p.Asp478Glu)
c.1296C>G (p.Asp432Glu)
c.3858C>G (p.Asp1286Glu)
c.4623C>G (p.Asp1541Glu)
c.4812C>G (p.Asp1604Glu)
c.4605C>G (p.Asp1535Glu)
c.1308C>G (p.Asp436Glu)
c.1353C>G (p.Asp451Glu)
c.4809C>G (p.Asp1603Glu)
c.1133C>G
c.1320C>G (p.Asp440Glu)
c.*4529C>G (n.*4529C>G)
c.1059C>G (p.Asp353Glu)
c.5-7217C>G (n.5-7217C>G)
c.219C>G (p.Asp73Glu)
c.-98-20978C>G (n.-98-20978C>G)
n.4882C>G
n.4923C>G
 ClinVar dbSNP
17g.43071168G>TCA10592017BRCA1c.4743C>A (p.Asp1581Glu)
c.4746C>A (p.Asp1582Glu)
c.4620C>A (p.Asp1540Glu)
c.4740C>A (p.Asp1580Glu)
c.4668C>A (p.Asp1556Glu)
c.1434C>A (p.Asp478Glu)
c.1296C>A (p.Asp432Glu)
c.3858C>A (p.Asp1286Glu)
c.4623C>A (p.Asp1541Glu)
c.4812C>A (p.Asp1604Glu)
c.4605C>A (p.Asp1535Glu)
c.1308C>A (p.Asp436Glu)
c.1353C>A (p.Asp451Glu)
c.4809C>A (p.Asp1603Glu)
c.1133C>A
c.1320C>A (p.Asp440Glu)
c.*4529C>A (n.*4529C>A)
c.1059C>A (p.Asp353Glu)
c.5-7217C>A (n.5-7217C>A)
c.219C>A (p.Asp73Glu)
c.-98-20978C>A (n.-98-20978C>A)
n.4882C>A
n.4923C>A
 COSMIC COSMIC
17g.43071168_43071169delinsGTCA2260772981BRCA1c.4742_4743delinsAC (p.Asp1581=)
c.4745_4746delinsAC (p.Asp1582=)
c.4619_4620delinsAC (p.Asp1540=)
c.4739_4740delinsAC (p.Asp1580=)
c.4667_4668delinsAC (p.Asp1556=)
c.1433_1434delinsAC (p.Asp478=)
c.1295_1296delinsAC (p.Asp432=)
c.3857_3858delinsAC (p.Asp1286=)
c.4622_4623delinsAC (p.Asp1541=)
c.4811_4812delinsAC (p.Asp1604=)
c.4604_4605delinsAC (p.Asp1535=)
c.1307_1308delinsAC (p.Asp436=)
c.1352_1353delinsAC (p.Asp451=)
c.4808_4809delinsAC (p.Asp1603=)
c.1132_1133delinsAC
c.1319_1320delinsAC (p.Asp440=)
c.*4528_*4529delinsAC (n.*4528_*4529delinsAC)
c.1058_1059delinsAC (p.Asp353=)
c.5-7218_5-7217delinsAC (n.5-7218_5-7217delinsAC)
c.218_219delinsAC (p.Asp73=)
c.-98-20979_-98-20978delinsAC (n.-98-20979_-98-20978delinsAC)
n.4881_4882delinsAC
n.4922_4923delinsAC
17g.43071169delCA003003BRCA1c.4742del (p.Asp1581AlafsTer19)
c.4745del (p.Asp1582AlafsTer19)
c.4619del (p.Asp1540AlafsTer19)
c.4739del (p.Asp1580AlafsTer19)
c.4667del (p.Asp1556AlafsTer19)
c.1433del (p.Asp478AlafsTer19)
c.1295del (p.Asp432AlafsTer19)
c.3857del (p.Asp1286AlafsTer19)
c.4622del (p.Asp1541AlafsTer19)
c.4811del (p.Asp1604AlafsTer19)
c.4604del (p.Asp1535AlafsTer19)
c.1307del (p.Asp436AlafsTer19)
c.1352del (p.Asp451AlafsTer19)
c.4808del (p.Asp1603AlafsTer19)
c.1132del
c.1319del (p.Asp440AlafsTer19)
c.*4528del (n.*4528del)
c.1058del (p.Asp353AlafsTer19)
c.5-7218del (n.5-7218del)
c.218del (p.Asp73AlafsTer19)
c.-98-20979del (n.-98-20979del)
n.4881del
n.4922del
 ClinVar dbSNP gnomAD v2
17g.43071169T>ACA10592018BRCA1c.4742A>T (p.Asp1581Val)
c.4745A>T (p.Asp1582Val)
c.4619A>T (p.Asp1540Val)
c.4739A>T (p.Asp1580Val)
c.4667A>T (p.Asp1556Val)
c.1433A>T (p.Asp478Val)
c.1295A>T (p.Asp432Val)
c.3857A>T (p.Asp1286Val)
c.4622A>T (p.Asp1541Val)
c.4811A>T (p.Asp1604Val)
c.4604A>T (p.Asp1535Val)
c.1307A>T (p.Asp436Val)
c.1352A>T (p.Asp451Val)
c.4808A>T (p.Asp1603Val)
c.1132A>T
c.1319A>T (p.Asp440Val)
c.*4528A>T (n.*4528A>T)
c.1058A>T (p.Asp353Val)
c.5-7218A>T (n.5-7218A>T)
c.218A>T (p.Asp73Val)
c.-98-20979A>T (n.-98-20979A>T)
n.4881A>T
n.4922A>T
 dbSNP
17g.43071169T>CCA10592019BRCA1c.4742A>G (p.Asp1581Gly)
c.4745A>G (p.Asp1582Gly)
c.4619A>G (p.Asp1540Gly)
c.4739A>G (p.Asp1580Gly)
c.4667A>G (p.Asp1556Gly)
c.1433A>G (p.Asp478Gly)
c.1295A>G (p.Asp432Gly)
c.3857A>G (p.Asp1286Gly)
c.4622A>G (p.Asp1541Gly)
c.4811A>G (p.Asp1604Gly)
c.4604A>G (p.Asp1535Gly)
c.1307A>G (p.Asp436Gly)
c.1352A>G (p.Asp451Gly)
c.4808A>G (p.Asp1603Gly)
c.1132A>G
c.1319A>G (p.Asp440Gly)
c.*4528A>G (n.*4528A>G)
c.1058A>G (p.Asp353Gly)
c.5-7218A>G (n.5-7218A>G)
c.218A>G (p.Asp73Gly)
c.-98-20979A>G (n.-98-20979A>G)
n.4881A>G
n.4922A>G
 ClinVar
17g.43071169T>GCA10592020BRCA1c.4742A>C (p.Asp1581Ala)
c.4745A>C (p.Asp1582Ala)
c.4619A>C (p.Asp1540Ala)
c.4739A>C (p.Asp1580Ala)
c.4667A>C (p.Asp1556Ala)
c.1433A>C (p.Asp478Ala)
c.1295A>C (p.Asp432Ala)
c.3857A>C (p.Asp1286Ala)
c.4622A>C (p.Asp1541Ala)
c.4811A>C (p.Asp1604Ala)
c.4604A>C (p.Asp1535Ala)
c.1307A>C (p.Asp436Ala)
c.1352A>C (p.Asp451Ala)
c.4808A>C (p.Asp1603Ala)
c.1132A>C
c.1319A>C (p.Asp440Ala)
c.*4528A>C (n.*4528A>C)
c.1058A>C (p.Asp353Ala)
c.5-7218A>C (n.5-7218A>C)
c.218A>C (p.Asp73Ala)
c.-98-20979A>C (n.-98-20979A>C)
n.4881A>C
n.4922A>C
 dbSNP
17g.43071169T=CA2581309321BRCA1c.4742A= (p.Asp1581=)
c.4745A= (p.Asp1582=)
c.4619A= (p.Asp1540=)
c.4739A= (p.Asp1580=)
c.4667A= (p.Asp1556=)
c.1433A= (p.Asp478=)
c.1295A= (p.Asp432=)
c.3857A= (p.Asp1286=)
c.4622A= (p.Asp1541=)
c.4811A= (p.Asp1604=)
c.4604A= (p.Asp1535=)
c.1307A= (p.Asp436=)
c.1352A= (p.Asp451=)
c.4808A= (p.Asp1603=)
c.1132A=
c.1319A= (p.Asp440=)
c.*4528A= (n.*4528A=)
c.1058A= (p.Asp353=)
c.5-7218A= (n.5-7218A=)
c.218A= (p.Asp73=)
c.-98-20979A= (n.-98-20979A=)
n.4881A=
n.4922A=
17g.43071170C>ACA10592021BRCA1c.4741G>T (p.Asp1581Tyr)
c.4744G>T (p.Asp1582Tyr)
c.4618G>T (p.Asp1540Tyr)
c.4738G>T (p.Asp1580Tyr)
c.4666G>T (p.Asp1556Tyr)
c.1432G>T (p.Asp478Tyr)
c.1294G>T (p.Asp432Tyr)
c.3856G>T (p.Asp1286Tyr)
c.4621G>T (p.Asp1541Tyr)
c.4810G>T (p.Asp1604Tyr)
c.4603G>T (p.Asp1535Tyr)
c.1306G>T (p.Asp436Tyr)
c.1351G>T (p.Asp451Tyr)
c.4807G>T (p.Asp1603Tyr)
c.1131G>T
c.1318G>T (p.Asp440Tyr)
c.*4527G>T (n.*4527G>T)
c.1057G>T (p.Asp353Tyr)
c.5-7219G>T (n.5-7219G>T)
c.217G>T (p.Asp73Tyr)
c.-98-20980G>T (n.-98-20980G>T)
n.4880G>T
n.4921G>T
 gnomAD v4
17g.43071170C>GCA10592022BRCA1c.4741G>C (p.Asp1581His)
c.4744G>C (p.Asp1582His)
c.4618G>C (p.Asp1540His)
c.4738G>C (p.Asp1580His)
c.4666G>C (p.Asp1556His)
c.1432G>C (p.Asp478His)
c.1294G>C (p.Asp432His)
c.3856G>C (p.Asp1286His)
c.4621G>C (p.Asp1541His)
c.4810G>C (p.Asp1604His)
c.4603G>C (p.Asp1535His)
c.1306G>C (p.Asp436His)
c.1351G>C (p.Asp451His)
c.4807G>C (p.Asp1603His)
c.1131G>C
c.1318G>C (p.Asp440His)
c.*4527G>C (n.*4527G>C)
c.1057G>C (p.Asp353His)
c.5-7219G>C (n.5-7219G>C)
c.217G>C (p.Asp73His)
c.-98-20980G>C (n.-98-20980G>C)
n.4880G>C
n.4921G>C
 dbSNP
17g.43071170C>TCA10592023BRCA1c.4741G>A (p.Asp1581Asn)
c.4744G>A (p.Asp1582Asn)
c.4618G>A (p.Asp1540Asn)
c.4738G>A (p.Asp1580Asn)
c.4666G>A (p.Asp1556Asn)
c.1432G>A (p.Asp478Asn)
c.1294G>A (p.Asp432Asn)
c.3856G>A (p.Asp1286Asn)
c.4621G>A (p.Asp1541Asn)
c.4810G>A (p.Asp1604Asn)
c.4603G>A (p.Asp1535Asn)
c.1306G>A (p.Asp436Asn)
c.1351G>A (p.Asp451Asn)
c.4807G>A (p.Asp1603Asn)
c.1131G>A
c.1318G>A (p.Asp440Asn)
c.*4527G>A (n.*4527G>A)
c.1057G>A (p.Asp353Asn)
c.5-7219G>A (n.5-7219G>A)
c.217G>A (p.Asp73Asn)
c.-98-20980G>A (n.-98-20980G>A)
n.4880G>A
n.4921G>A
 ClinVar dbSNP
17g.43071170delinsGGCA2580094180BRCA1c.4741delinsCC (p.Asp1581ProfsTer?)
c.4744delinsCC (p.Asp1582ProfsTer?)
c.4618delinsCC (p.Asp1540ProfsTer?)
c.4738delinsCC (p.Asp1580ProfsTer?)
c.4666delinsCC (p.Asp1556ProfsTer?)
c.1432delinsCC (p.Asp478ProfsTer?)
c.1294delinsCC (p.Asp432ProfsTer?)
c.3856delinsCC (p.Asp1286ProfsTer?)
c.4621delinsCC (p.Asp1541ProfsTer?)
c.4810delinsCC (p.Asp1604ProfsTer?)
c.4603delinsCC (p.Asp1535ProfsTer?)
c.1306delinsCC (p.Asp436ProfsTer?)
c.1351delinsCC (p.Asp451ProfsTer?)
c.4807delinsCC (p.Asp1603ProfsTer?)
c.1131delinsCC
c.1318delinsCC (p.Asp440ProfsTer?)
c.*4527delinsCC (n.*4527delinsCC)
c.1057delinsCC (p.Asp353ProfsTer?)
c.5-7219delinsCC (n.5-7219delinsCC)
c.217delinsCC (p.Asp73ProfsTer?)
c.-98-20980delinsCC (n.-98-20980delinsCC)
n.4880delinsCC
n.4921delinsCC
 ClinVar
17g.43071170_43071171delinsCTCA2260772982BRCA1c.4740_4741delinsAG (p.Glu1580=)
c.4743_4744delinsAG (p.Glu1581=)
c.4617_4618delinsAG (p.Glu1539=)
c.4737_4738delinsAG (p.Glu1579=)
c.4665_4666delinsAG (p.Glu1555=)
c.1431_1432delinsAG (p.Glu477=)
c.1293_1294delinsAG (p.Glu431=)
c.3855_3856delinsAG (p.Glu1285=)
c.4620_4621delinsAG (p.Glu1540=)
c.4809_4810delinsAG (p.Glu1603=)
c.4602_4603delinsAG (p.Glu1534=)
c.1305_1306delinsAG (p.Glu435=)
c.1350_1351delinsAG (p.Glu450=)
c.4806_4807delinsAG (p.Glu1602=)
c.1130_1131delinsAG
c.1317_1318delinsAG (p.Glu439=)
c.*4526_*4527delinsAG (n.*4526_*4527delinsAG)
c.1056_1057delinsAG (p.Glu352=)
c.5-7220_5-7219delinsAG (n.5-7220_5-7219delinsAG)
c.216_217delinsAG (p.Glu72=)
c.-98-20981_-98-20980delinsAG (n.-98-20981_-98-20980delinsAG)
n.4879_4880delinsAG
n.4920_4921delinsAG
17g.43071170_43071200delCA2695225910BRCA1c.4711_4741del (p.Ser1571ThrfsTer19)
c.4714_4744del (p.Ser1572ThrfsTer19)
c.4588_4618del (p.Ser1530ThrfsTer19)
c.4708_4738del (p.Ser1570ThrfsTer19)
c.4636_4666del (p.Ser1546ThrfsTer19)
c.1402_1432del (p.Ser468ThrfsTer19)
c.1264_1294del (p.Ser422ThrfsTer19)
c.3826_3856del (p.Ser1276ThrfsTer19)
c.4591_4621del (p.Ser1531ThrfsTer19)
c.4780_4810del (p.Ser1594ThrfsTer19)
c.4573_4603del (p.Ser1525ThrfsTer19)
c.1276_1306del (p.Ser426ThrfsTer19)
c.1321_1351del (p.Ser441ThrfsTer19)
c.4777_4807del (p.Ser1593ThrfsTer19)
c.1101_1131del
c.1288_1318del (p.Ser430ThrfsTer19)
c.*4497_*4527del (n.*4497_*4527del)
c.1027_1057del (p.Ser343ThrfsTer19)
c.5-7249_5-7219del (n.5-7249_5-7219del)
c.187_217del (p.Ser63ThrfsTer19)
c.-98-21010_-98-20980del (n.-98-21010_-98-20980del)
n.4850_4880del
n.4891_4921del
17g.43071171T>ACA10592024BRCA1c.4740A>T (p.Glu1580Asp)
c.4743A>T (p.Glu1581Asp)
c.4617A>T (p.Glu1539Asp)
c.4737A>T (p.Glu1579Asp)
c.4665A>T (p.Glu1555Asp)
c.1431A>T (p.Glu477Asp)
c.1293A>T (p.Glu431Asp)
c.3855A>T (p.Glu1285Asp)
c.4620A>T (p.Glu1540Asp)
c.4809A>T (p.Glu1603Asp)
c.4602A>T (p.Glu1534Asp)
c.1305A>T (p.Glu435Asp)
c.1350A>T (p.Glu450Asp)
c.4806A>T (p.Glu1602Asp)
c.1130A>T
c.1317A>T (p.Glu439Asp)
c.*4526A>T (n.*4526A>T)
c.1056A>T (p.Glu352Asp)
c.5-7220A>T (n.5-7220A>T)
c.216A>T (p.Glu72Asp)
c.-98-20981A>T (n.-98-20981A>T)
n.4879A>T
n.4920A>T
 dbSNP
17g.43071171T>CCA003002BRCA1c.4740A>G (p.Glu1580=)
c.4743A>G (p.Glu1581=)
c.4617A>G (p.Glu1539=)
c.4737A>G (p.Glu1579=)
c.4665A>G (p.Glu1555=)
c.1431A>G (p.Glu477=)
c.1293A>G (p.Glu431=)
c.3855A>G (p.Glu1285=)
c.4620A>G (p.Glu1540=)
c.4809A>G (p.Glu1603=)
c.4602A>G (p.Glu1534=)
c.1305A>G (p.Glu435=)
c.1350A>G (p.Glu450=)
c.4806A>G (p.Glu1602=)
c.1130A>G
c.1317A>G (p.Glu439=)
c.*4526A>G (n.*4526A>G)
c.1056A>G (p.Glu352=)
c.5-7220A>G (n.5-7220A>G)
c.216A>G (p.Glu72=)
c.-98-20981A>G (n.-98-20981A>G)
n.4879A>G
n.4920A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43071171T>GCA003001BRCA1c.4740A>C (p.Glu1580Asp)
c.4743A>C (p.Glu1581Asp)
c.4617A>C (p.Glu1539Asp)
c.4737A>C (p.Glu1579Asp)
c.4665A>C (p.Glu1555Asp)
c.1431A>C (p.Glu477Asp)
c.1293A>C (p.Glu431Asp)
c.3855A>C (p.Glu1285Asp)
c.4620A>C (p.Glu1540Asp)
c.4809A>C (p.Glu1603Asp)
c.4602A>C (p.Glu1534Asp)
c.1305A>C (p.Glu435Asp)
c.1350A>C (p.Glu450Asp)
c.4806A>C (p.Glu1602Asp)
c.1130A>C
c.1317A>C (p.Glu439Asp)
c.*4526A>C (n.*4526A>C)
c.1056A>C (p.Glu352Asp)
c.5-7220A>C (n.5-7220A>C)
c.216A>C (p.Glu72Asp)
c.-98-20981A>C (n.-98-20981A>C)
n.4879A>C
n.4920A>C
 ClinVar dbSNP
17g.43071171T=CA2260772983BRCA1c.4740A= (p.Glu1580=)
c.4743A= (p.Glu1581=)
c.4617A= (p.Glu1539=)
c.4737A= (p.Glu1579=)
c.4665A= (p.Glu1555=)
c.1431A= (p.Glu477=)
c.1293A= (p.Glu431=)
c.3855A= (p.Glu1285=)
c.4620A= (p.Glu1540=)
c.4809A= (p.Glu1603=)
c.4602A= (p.Glu1534=)
c.1305A= (p.Glu435=)
c.1350A= (p.Glu450=)
c.4806A= (p.Glu1602=)
c.1130A=
c.1317A= (p.Glu439=)
c.*4526A= (n.*4526A=)
c.1056A= (p.Glu352=)
c.5-7220A= (n.5-7220A=)
c.216A= (p.Glu72=)
c.-98-20981A= (n.-98-20981A=)
n.4879A=
n.4920A=
17g.43071172delCA10589646BRCA1c.4740del (p.Asp1581ThrfsTer19)
c.4743del (p.Asp1582ThrfsTer19)
c.4617del (p.Asp1540ThrfsTer19)
c.4737del (p.Asp1580ThrfsTer19)
c.4665del (p.Asp1556ThrfsTer19)
c.1431del (p.Asp478ThrfsTer19)
c.1293del (p.Asp432ThrfsTer19)
c.3855del (p.Asp1286ThrfsTer19)
c.4620del (p.Asp1541ThrfsTer19)
c.4809del (p.Asp1604ThrfsTer19)
c.4602del (p.Asp1535ThrfsTer19)
c.1305del (p.Asp436ThrfsTer19)
c.1350del (p.Asp451ThrfsTer19)
c.4806del (p.Asp1603ThrfsTer19)
c.1130del
c.1317del (p.Asp440ThrfsTer19)
c.*4526del (n.*4526del)
c.1056del (p.Asp353ThrfsTer19)
c.5-7220del (n.5-7220del)
c.216del (p.Asp73ThrfsTer19)
c.-98-20981del (n.-98-20981del)
n.4879del
n.4920del
 ClinVar dbSNP
17g.43071172T>ACA10592025BRCA1c.4739A>T (p.Glu1580Val)
c.4742A>T (p.Glu1581Val)
c.4616A>T (p.Glu1539Val)
c.4736A>T (p.Glu1579Val)
c.4664A>T (p.Glu1555Val)
c.1430A>T (p.Glu477Val)
c.1292A>T (p.Glu431Val)
c.3854A>T (p.Glu1285Val)
c.4619A>T (p.Glu1540Val)
c.4808A>T (p.Glu1603Val)
c.4601A>T (p.Glu1534Val)
c.1304A>T (p.Glu435Val)
c.1349A>T (p.Glu450Val)
c.4805A>T (p.Glu1602Val)
c.1129A>T
c.1316A>T (p.Glu439Val)
c.*4525A>T (n.*4525A>T)
c.1055A>T (p.Glu352Val)
c.5-7221A>T (n.5-7221A>T)
c.215A>T (p.Glu72Val)
c.-98-20982A>T (n.-98-20982A>T)
n.4878A>T
n.4919A>T
 dbSNP
17g.43071172T>CCA10592026BRCA1c.4739A>G (p.Glu1580Gly)
c.4742A>G (p.Glu1581Gly)
c.4616A>G (p.Glu1539Gly)
c.4736A>G (p.Glu1579Gly)
c.4664A>G (p.Glu1555Gly)
c.1430A>G (p.Glu477Gly)
c.1292A>G (p.Glu431Gly)
c.3854A>G (p.Glu1285Gly)
c.4619A>G (p.Glu1540Gly)
c.4808A>G (p.Glu1603Gly)
c.4601A>G (p.Glu1534Gly)
c.1304A>G (p.Glu435Gly)
c.1349A>G (p.Glu450Gly)
c.4805A>G (p.Glu1602Gly)
c.1129A>G
c.1316A>G (p.Glu439Gly)
c.*4525A>G (n.*4525A>G)
c.1055A>G (p.Glu352Gly)
c.5-7221A>G (n.5-7221A>G)
c.215A>G (p.Glu72Gly)
c.-98-20982A>G (n.-98-20982A>G)
n.4878A>G
n.4919A>G
17g.43071172T>GCA10592027BRCA1c.4739A>C (p.Glu1580Ala)
c.4742A>C (p.Glu1581Ala)
c.4616A>C (p.Glu1539Ala)
c.4736A>C (p.Glu1579Ala)
c.4664A>C (p.Glu1555Ala)
c.1430A>C (p.Glu477Ala)
c.1292A>C (p.Glu431Ala)
c.3854A>C (p.Glu1285Ala)
c.4619A>C (p.Glu1540Ala)
c.4808A>C (p.Glu1603Ala)
c.4601A>C (p.Glu1534Ala)
c.1304A>C (p.Glu435Ala)
c.1349A>C (p.Glu450Ala)
c.4805A>C (p.Glu1602Ala)
c.1129A>C
c.1316A>C (p.Glu439Ala)
c.*4525A>C (n.*4525A>C)
c.1055A>C (p.Glu352Ala)
c.5-7221A>C (n.5-7221A>C)
c.215A>C (p.Glu72Ala)
c.-98-20982A>C (n.-98-20982A>C)
n.4878A>C
n.4919A>C
17g.43071173C>ACA003000BRCA1c.4738G>T (p.Glu1580Ter)
c.4741G>T (p.Glu1581Ter)
c.4615G>T (p.Glu1539Ter)
c.4735G>T (p.Glu1579Ter)
c.4663G>T (p.Glu1555Ter)
c.1429G>T (p.Glu477Ter)
c.1291G>T (p.Glu431Ter)
c.3853G>T (p.Glu1285Ter)
c.4618G>T (p.Glu1540Ter)
c.4807G>T (p.Glu1603Ter)
c.4600G>T (p.Glu1534Ter)
c.1303G>T (p.Glu435Ter)
c.1348G>T (p.Glu450Ter)
c.4804G>T (p.Glu1602Ter)
c.1128G>T
c.1315G>T (p.Glu439Ter)
c.*4524G>T (n.*4524G>T)
c.1054G>T (p.Glu352Ter)
c.5-7222G>T (n.5-7222G>T)
c.214G>T (p.Glu72Ter)
c.-98-20983G>T (n.-98-20983G>T)
n.4877G>T
n.4918G>T
 ClinVar dbSNP
17g.43071173C=CA2260772984BRCA1c.4738G= (p.Glu1580=)
c.4741G= (p.Glu1581=)
c.4615G= (p.Glu1539=)
c.4735G= (p.Glu1579=)
c.4663G= (p.Glu1555=)
c.1429G= (p.Glu477=)
c.1291G= (p.Glu431=)
c.3853G= (p.Glu1285=)
c.4618G= (p.Glu1540=)
c.4807G= (p.Glu1603=)
c.4600G= (p.Glu1534=)
c.1303G= (p.Glu435=)
c.1348G= (p.Glu450=)
c.4804G= (p.Glu1602=)
c.1128G=
c.1315G= (p.Glu439=)
c.*4524G= (n.*4524G=)
c.1054G= (p.Glu352=)
c.5-7222G= (n.5-7222G=)
c.214G= (p.Glu72=)
c.-98-20983G= (n.-98-20983G=)
n.4877G=
n.4918G=
17g.43071173C>GCA10592028BRCA1c.4738G>C (p.Glu1580Gln)
c.4741G>C (p.Glu1581Gln)
c.4615G>C (p.Glu1539Gln)
c.4735G>C (p.Glu1579Gln)
c.4663G>C (p.Glu1555Gln)
c.1429G>C (p.Glu477Gln)
c.1291G>C (p.Glu431Gln)
c.3853G>C (p.Glu1285Gln)
c.4618G>C (p.Glu1540Gln)
c.4807G>C (p.Glu1603Gln)
c.4600G>C (p.Glu1534Gln)
c.1303G>C (p.Glu435Gln)
c.1348G>C (p.Glu450Gln)
c.4804G>C (p.Glu1602Gln)
c.1128G>C
c.1315G>C (p.Glu439Gln)
c.*4524G>C (n.*4524G>C)
c.1054G>C (p.Glu352Gln)
c.5-7222G>C (n.5-7222G>C)
c.214G>C (p.Glu72Gln)
c.-98-20983G>C (n.-98-20983G>C)
n.4877G>C
n.4918G>C
 ClinVar dbSNP gnomAD v4
17g.43071173C>TCA10592029BRCA1c.4738G>A (p.Glu1580Lys)
c.4741G>A (p.Glu1581Lys)
c.4615G>A (p.Glu1539Lys)
c.4735G>A (p.Glu1579Lys)
c.4663G>A (p.Glu1555Lys)
c.1429G>A (p.Glu477Lys)
c.1291G>A (p.Glu431Lys)
c.3853G>A (p.Glu1285Lys)
c.4618G>A (p.Glu1540Lys)
c.4807G>A (p.Glu1603Lys)
c.4600G>A (p.Glu1534Lys)
c.1303G>A (p.Glu435Lys)
c.1348G>A (p.Glu450Lys)
c.4804G>A (p.Glu1602Lys)
c.1128G>A
c.1315G>A (p.Glu439Lys)
c.*4524G>A (n.*4524G>A)
c.1054G>A (p.Glu352Lys)
c.5-7222G>A (n.5-7222G>A)
c.214G>A (p.Glu72Lys)
c.-98-20983G>A (n.-98-20983G>A)
n.4877G>A
n.4918G>A
 ClinVar dbSNP gnomAD v4
17g.43071174A=CA2260772985BRCA1c.4737T= (p.Ser1579=)
c.4740T= (p.Ser1580=)
c.4614T= (p.Ser1538=)
c.4734T= (p.Ser1578=)
c.4662T= (p.Ser1554=)
c.1428T= (p.Ser476=)
c.1290T= (p.Ser430=)
c.3852T= (p.Ser1284=)
c.4617T= (p.Ser1539=)
c.4806T= (p.Ser1602=)
c.4599T= (p.Ser1533=)
c.1302T= (p.Ser434=)
c.1347T= (p.Ser449=)
c.4803T= (p.Ser1601=)
c.1127T=
c.1314T= (p.Ser438=)
c.*4523T= (n.*4523T=)
c.1053T= (p.Ser351=)
c.5-7223T= (n.5-7223T=)
c.213T= (p.Ser71=)
c.-98-20984T= (n.-98-20984T=)
n.4876T=
n.4917T=
17g.43071174A>CCA500231869BRCA1c.4737T>G (p.Ser1579=)
c.4740T>G (p.Ser1580=)
c.4614T>G (p.Ser1538=)
c.4734T>G (p.Ser1578=)
c.4662T>G (p.Ser1554=)
c.1428T>G (p.Ser476=)
c.1290T>G (p.Ser430=)
c.3852T>G (p.Ser1284=)
c.4617T>G (p.Ser1539=)
c.4806T>G (p.Ser1602=)
c.4599T>G (p.Ser1533=)
c.1302T>G (p.Ser434=)
c.1347T>G (p.Ser449=)
c.4803T>G (p.Ser1601=)
c.1127T>G
c.1314T>G (p.Ser438=)
c.*4523T>G (n.*4523T>G)
c.1053T>G (p.Ser351=)
c.5-7223T>G (n.5-7223T>G)
c.213T>G (p.Ser71=)
c.-98-20984T>G (n.-98-20984T>G)
n.4876T>G
n.4917T>G
17g.43071174A>GCA052880BRCA1c.4737T>C (p.Ser1579=)
c.4740T>C (p.Ser1580=)
c.4614T>C (p.Ser1538=)
c.4734T>C (p.Ser1578=)
c.4662T>C (p.Ser1554=)
c.1428T>C (p.Ser476=)
c.1290T>C (p.Ser430=)
c.3852T>C (p.Ser1284=)
c.4617T>C (p.Ser1539=)
c.4806T>C (p.Ser1602=)
c.4599T>C (p.Ser1533=)
c.1302T>C (p.Ser434=)
c.1347T>C (p.Ser449=)
c.4803T>C (p.Ser1601=)
c.1127T>C
c.1314T>C (p.Ser438=)
c.*4523T>C (n.*4523T>C)
c.1053T>C (p.Ser351=)
c.5-7223T>C (n.5-7223T>C)
c.213T>C (p.Ser71=)
c.-98-20984T>C (n.-98-20984T>C)
n.4876T>C
n.4917T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43071174A>TCA500231870BRCA1c.4737T>A (p.Ser1579=)
c.4740T>A (p.Ser1580=)
c.4614T>A (p.Ser1538=)
c.4734T>A (p.Ser1578=)
c.4662T>A (p.Ser1554=)
c.1428T>A (p.Ser476=)
c.1290T>A (p.Ser430=)
c.3852T>A (p.Ser1284=)
c.4617T>A (p.Ser1539=)
c.4806T>A (p.Ser1602=)
c.4599T>A (p.Ser1533=)
c.1302T>A (p.Ser434=)
c.1347T>A (p.Ser449=)
c.4803T>A (p.Ser1601=)
c.1127T>A
c.1314T>A (p.Ser438=)
c.*4523T>A (n.*4523T>A)
c.1053T>A (p.Ser351=)
c.5-7223T>A (n.5-7223T>A)
c.213T>A (p.Ser71=)
c.-98-20984T>A (n.-98-20984T>A)
n.4876T>A
n.4917T>A
 dbSNP
17g.43071174_43071178delinsAGAAGCA2260772986BRCA1c.4733_4737delinsCTTCT (p.Pro1578=)
c.4736_4740delinsCTTCT (p.Pro1579=)
c.4610_4614delinsCTTCT (p.Pro1537=)
c.4730_4734delinsCTTCT (p.Pro1577=)
c.4658_4662delinsCTTCT (p.Pro1553=)
c.1424_1428delinsCTTCT (p.Pro475=)
c.1286_1290delinsCTTCT (p.Pro429=)
c.3848_3852delinsCTTCT (p.Pro1283=)
c.4613_4617delinsCTTCT (p.Pro1538=)
c.4802_4806delinsCTTCT (p.Pro1601=)
c.4595_4599delinsCTTCT (p.Pro1532=)
c.1298_1302delinsCTTCT (p.Pro433=)
c.1343_1347delinsCTTCT (p.Pro448=)
c.4799_4803delinsCTTCT (p.Pro1600=)
c.1123_1127delinsCTTCT
c.1310_1314delinsCTTCT (p.Pro437=)
c.*4519_*4523delinsCTTCT (n.*4519_*4523delinsCTTCT)
c.1049_1053delinsCTTCT (p.Pro350=)
c.5-7227_5-7223delinsCTTCT (n.5-7227_5-7223delinsCTTCT)
c.209_213delinsCTTCT (p.Pro70=)
c.-98-20988_-98-20984delinsCTTCT (n.-98-20988_-98-20984delinsCTTCT)
n.4872_4876delinsCTTCT
n.4913_4917delinsCTTCT
17g.43071176_43071206dupCA2573154037BRCA1c.4707_4737dup (p.Glu1580LeufsTer3)
c.4710_4740dup (p.Glu1581LeufsTer3)
c.4584_4614dup (p.Glu1539LeufsTer3)
c.4704_4734dup (p.Glu1579LeufsTer3)
c.4632_4662dup (p.Glu1555LeufsTer3)
c.1398_1428dup (p.Glu477LeufsTer3)
c.1260_1290dup (p.Glu431LeufsTer3)
c.3822_3852dup (p.Glu1285LeufsTer3)
c.4587_4617dup (p.Glu1540LeufsTer3)
c.4776_4806dup (p.Glu1603LeufsTer3)
c.4569_4599dup (p.Glu1534LeufsTer3)
c.1272_1302dup (p.Glu435LeufsTer3)
c.1317_1347dup (p.Glu450LeufsTer3)
c.4773_4803dup (p.Glu1602LeufsTer3)
c.1097_1127dup
c.1284_1314dup (p.Glu439LeufsTer3)
c.*4493_*4523dup (n.*4493_*4523dup)
c.1023_1053dup (p.Glu352LeufsTer3)
c.5-7253_5-7223dup (n.5-7253_5-7223dup)
c.183_213dup (p.Glu72LeufsTer3)
c.-98-21014_-98-20984dup (n.-98-21014_-98-20984dup)
n.4846_4876dup
n.4887_4917dup
 ClinVar dbSNP
17g.43071175G>ACA002999BRCA1c.4736C>T (p.Ser1579Phe)
c.4739C>T (p.Ser1580Phe)
c.4613C>T (p.Ser1538Phe)
c.4733C>T (p.Ser1578Phe)
c.4661C>T (p.Ser1554Phe)
c.1427C>T (p.Ser476Phe)
c.1289C>T (p.Ser430Phe)
c.3851C>T (p.Ser1284Phe)
c.4616C>T (p.Ser1539Phe)
c.4805C>T (p.Ser1602Phe)
c.4598C>T (p.Ser1533Phe)
c.1301C>T (p.Ser434Phe)
c.1346C>T (p.Ser449Phe)
c.4802C>T (p.Ser1601Phe)
c.1126C>T
c.1313C>T (p.Ser438Phe)
c.*4522C>T (n.*4522C>T)
c.1052C>T (p.Ser351Phe)
c.5-7224C>T (n.5-7224C>T)
c.212C>T (p.Ser71Phe)
c.-98-20985C>T (n.-98-20985C>T)
n.4875C>T
n.4916C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43071175G>CCA10592030BRCA1c.4736C>G (p.Ser1579Cys)
c.4739C>G (p.Ser1580Cys)
c.4613C>G (p.Ser1538Cys)
c.4733C>G (p.Ser1578Cys)
c.4661C>G (p.Ser1554Cys)
c.1427C>G (p.Ser476Cys)
c.1289C>G (p.Ser430Cys)
c.3851C>G (p.Ser1284Cys)
c.4616C>G (p.Ser1539Cys)
c.4805C>G (p.Ser1602Cys)
c.4598C>G (p.Ser1533Cys)
c.1301C>G (p.Ser434Cys)
c.1346C>G (p.Ser449Cys)
c.4802C>G (p.Ser1601Cys)
c.1126C>G
c.1313C>G (p.Ser438Cys)
c.*4522C>G (n.*4522C>G)
c.1052C>G (p.Ser351Cys)
c.5-7224C>G (n.5-7224C>G)
c.212C>G (p.Ser71Cys)
c.-98-20985C>G (n.-98-20985C>G)
n.4875C>G
n.4916C>G
 dbSNP
17g.43071175G=CA2260772987BRCA1c.4736C= (p.Ser1579=)
c.4739C= (p.Ser1580=)
c.4613C= (p.Ser1538=)
c.4733C= (p.Ser1578=)
c.4661C= (p.Ser1554=)
c.1427C= (p.Ser476=)
c.1289C= (p.Ser430=)
c.3851C= (p.Ser1284=)
c.4616C= (p.Ser1539=)
c.4805C= (p.Ser1602=)
c.4598C= (p.Ser1533=)
c.1301C= (p.Ser434=)
c.1346C= (p.Ser449=)
c.4802C= (p.Ser1601=)
c.1126C=
c.1313C= (p.Ser438=)
c.*4522C= (n.*4522C=)
c.1052C= (p.Ser351=)
c.5-7224C= (n.5-7224C=)
c.212C= (p.Ser71=)
c.-98-20985C= (n.-98-20985C=)
n.4875C=
n.4916C=
17g.43071175G>TCA10592031BRCA1c.4736C>A (p.Ser1579Tyr)
c.4739C>A (p.Ser1580Tyr)
c.4613C>A (p.Ser1538Tyr)
c.4733C>A (p.Ser1578Tyr)
c.4661C>A (p.Ser1554Tyr)
c.1427C>A (p.Ser476Tyr)
c.1289C>A (p.Ser430Tyr)
c.3851C>A (p.Ser1284Tyr)
c.4616C>A (p.Ser1539Tyr)
c.4805C>A (p.Ser1602Tyr)
c.4598C>A (p.Ser1533Tyr)
c.1301C>A (p.Ser434Tyr)
c.1346C>A (p.Ser449Tyr)
c.4802C>A (p.Ser1601Tyr)
c.1126C>A
c.1313C>A (p.Ser438Tyr)
c.*4522C>A (n.*4522C>A)
c.1052C>A (p.Ser351Tyr)
c.5-7224C>A (n.5-7224C>A)
c.212C>A (p.Ser71Tyr)
c.-98-20985C>A (n.-98-20985C>A)
n.4875C>A
n.4916C>A
 ClinVar dbSNP gnomAD v4
17g.43071177_43071180delCA658684116BRCA1c.4733_4736del (p.Pro1578LeufsTer21)
c.4736_4739del (p.Pro1579LeufsTer21)
c.4610_4613del (p.Pro1537LeufsTer21)
c.4730_4733del (p.Pro1577LeufsTer21)
c.4658_4661del (p.Pro1553LeufsTer21)
c.1424_1427del (p.Pro475LeufsTer21)
c.1286_1289del (p.Pro429LeufsTer21)
c.3848_3851del (p.Pro1283LeufsTer21)
c.4613_4616del (p.Pro1538LeufsTer21)
c.4802_4805del (p.Pro1601LeufsTer21)
c.4595_4598del (p.Pro1532LeufsTer21)
c.1298_1301del (p.Pro433LeufsTer21)
c.1343_1346del (p.Pro448LeufsTer21)
c.4799_4802del (p.Pro1600LeufsTer21)
c.1123_1126del
c.1310_1313del (p.Pro437LeufsTer21)
c.*4519_*4522del (n.*4519_*4522del)
c.1049_1052del (p.Pro350LeufsTer21)
c.5-7227_5-7224del (n.5-7227_5-7224del)
c.209_212del (p.Pro70LeufsTer21)
c.-98-20988_-98-20985del (n.-98-20988_-98-20985del)
n.4872_4875del
n.4913_4916del
 ClinVar dbSNP
17g.43071176A>CCA10592032BRCA1c.4735T>G (p.Ser1579Ala)
c.4738T>G (p.Ser1580Ala)
c.4612T>G (p.Ser1538Ala)
c.4732T>G (p.Ser1578Ala)
c.4660T>G (p.Ser1554Ala)
c.1426T>G (p.Ser476Ala)
c.1288T>G (p.Ser430Ala)
c.3850T>G (p.Ser1284Ala)
c.4615T>G (p.Ser1539Ala)
c.4804T>G (p.Ser1602Ala)
c.4597T>G (p.Ser1533Ala)
c.1300T>G (p.Ser434Ala)
c.1345T>G (p.Ser449Ala)
c.4801T>G (p.Ser1601Ala)
c.1125T>G
c.1312T>G (p.Ser438Ala)
c.*4521T>G (n.*4521T>G)
c.1051T>G (p.Ser351Ala)
c.5-7225T>G (n.5-7225T>G)
c.211T>G (p.Ser71Ala)
c.-98-20986T>G (n.-98-20986T>G)
n.4874T>G
n.4915T>G
17g.43071176A>GCA10592033BRCA1c.4735T>C (p.Ser1579Pro)
c.4738T>C (p.Ser1580Pro)
c.4612T>C (p.Ser1538Pro)
c.4732T>C (p.Ser1578Pro)
c.4660T>C (p.Ser1554Pro)
c.1426T>C (p.Ser476Pro)
c.1288T>C (p.Ser430Pro)
c.3850T>C (p.Ser1284Pro)
c.4615T>C (p.Ser1539Pro)
c.4804T>C (p.Ser1602Pro)
c.4597T>C (p.Ser1533Pro)
c.1300T>C (p.Ser434Pro)
c.1345T>C (p.Ser449Pro)
c.4801T>C (p.Ser1601Pro)
c.1125T>C
c.1312T>C (p.Ser438Pro)
c.*4521T>C (n.*4521T>C)
c.1051T>C (p.Ser351Pro)
c.5-7225T>C (n.5-7225T>C)
c.211T>C (p.Ser71Pro)
c.-98-20986T>C (n.-98-20986T>C)
n.4874T>C
n.4915T>C
 dbSNP gnomAD v4
17g.43071176A>TCA10592034BRCA1c.4735T>A (p.Ser1579Thr)
c.4738T>A (p.Ser1580Thr)
c.4612T>A (p.Ser1538Thr)
c.4732T>A (p.Ser1578Thr)
c.4660T>A (p.Ser1554Thr)
c.1426T>A (p.Ser476Thr)
c.1288T>A (p.Ser430Thr)
c.3850T>A (p.Ser1284Thr)
c.4615T>A (p.Ser1539Thr)
c.4804T>A (p.Ser1602Thr)
c.4597T>A (p.Ser1533Thr)
c.1300T>A (p.Ser434Thr)
c.1345T>A (p.Ser449Thr)
c.4801T>A (p.Ser1601Thr)
c.1125T>A
c.1312T>A (p.Ser438Thr)
c.*4521T>A (n.*4521T>A)
c.1051T>A (p.Ser351Thr)
c.5-7225T>A (n.5-7225T>A)
c.211T>A (p.Ser71Thr)
c.-98-20986T>A (n.-98-20986T>A)
n.4874T>A
n.4915T>A
17g.43071177A=CA2260772988BRCA1c.4734T= (p.Pro1578=)
c.4737T= (p.Pro1579=)
c.4611T= (p.Pro1537=)
c.4731T= (p.Pro1577=)
c.4659T= (p.Pro1553=)
c.1425T= (p.Pro475=)
c.1287T= (p.Pro429=)
c.3849T= (p.Pro1283=)
c.4614T= (p.Pro1538=)
c.4803T= (p.Pro1601=)
c.4596T= (p.Pro1532=)
c.1299T= (p.Pro433=)
c.1344T= (p.Pro448=)
c.4800T= (p.Pro1600=)
c.1124T=
c.1311T= (p.Pro437=)
c.*4520T= (n.*4520T=)
c.1050T= (p.Pro350=)
c.5-7226T= (n.5-7226T=)
c.210T= (p.Pro70=)
c.-98-20987T= (n.-98-20987T=)
n.4873T=
n.4914T=
17g.43071177A>CCA500231872BRCA1c.4734T>G (p.Pro1578=)
c.4737T>G (p.Pro1579=)
c.4611T>G (p.Pro1537=)
c.4731T>G (p.Pro1577=)
c.4659T>G (p.Pro1553=)
c.1425T>G (p.Pro475=)
c.1287T>G (p.Pro429=)
c.3849T>G (p.Pro1283=)
c.4614T>G (p.Pro1538=)
c.4803T>G (p.Pro1601=)
c.4596T>G (p.Pro1532=)
c.1299T>G (p.Pro433=)
c.1344T>G (p.Pro448=)
c.4800T>G (p.Pro1600=)
c.1124T>G
c.1311T>G (p.Pro437=)
c.*4520T>G (n.*4520T>G)
c.1050T>G (p.Pro350=)
c.5-7226T>G (n.5-7226T>G)
c.210T>G (p.Pro70=)
c.-98-20987T>G (n.-98-20987T>G)
n.4873T>G
n.4914T>G
17g.43071177A>GCA10583557BRCA1c.4734T>C (p.Pro1578=)
c.4737T>C (p.Pro1579=)
c.4611T>C (p.Pro1537=)
c.4731T>C (p.Pro1577=)
c.4659T>C (p.Pro1553=)
c.1425T>C (p.Pro475=)
c.1287T>C (p.Pro429=)
c.3849T>C (p.Pro1283=)
c.4614T>C (p.Pro1538=)
c.4803T>C (p.Pro1601=)
c.4596T>C (p.Pro1532=)
c.1299T>C (p.Pro433=)
c.1344T>C (p.Pro448=)
c.4800T>C (p.Pro1600=)
c.1124T>C
c.1311T>C (p.Pro437=)
c.*4520T>C (n.*4520T>C)
c.1050T>C (p.Pro350=)
c.5-7226T>C (n.5-7226T>C)
c.210T>C (p.Pro70=)
c.-98-20987T>C (n.-98-20987T>C)
n.4873T>C
n.4914T>C
 ClinVar dbSNP
17g.43071177A>TCA500231871BRCA1c.4734T>A (p.Pro1578=)
c.4737T>A (p.Pro1579=)
c.4611T>A (p.Pro1537=)
c.4731T>A (p.Pro1577=)
c.4659T>A (p.Pro1553=)
c.1425T>A (p.Pro475=)
c.1287T>A (p.Pro429=)
c.3849T>A (p.Pro1283=)
c.4614T>A (p.Pro1538=)
c.4803T>A (p.Pro1601=)
c.4596T>A (p.Pro1532=)
c.1299T>A (p.Pro433=)
c.1344T>A (p.Pro448=)
c.4800T>A (p.Pro1600=)
c.1124T>A
c.1311T>A (p.Pro437=)
c.*4520T>A (n.*4520T>A)
c.1050T>A (p.Pro350=)
c.5-7226T>A (n.5-7226T>A)
c.210T>A (p.Pro70=)
c.-98-20987T>A (n.-98-20987T>A)
n.4873T>A
n.4914T>A
 dbSNP
17g.43071178G>ACA10592035BRCA1c.4733C>T (p.Pro1578Leu)
c.4736C>T (p.Pro1579Leu)
c.4610C>T (p.Pro1537Leu)
c.4730C>T (p.Pro1577Leu)
c.4658C>T (p.Pro1553Leu)
c.1424C>T (p.Pro475Leu)
c.1286C>T (p.Pro429Leu)
c.3848C>T (p.Pro1283Leu)
c.4613C>T (p.Pro1538Leu)
c.4802C>T (p.Pro1601Leu)
c.4595C>T (p.Pro1532Leu)
c.1298C>T (p.Pro433Leu)
c.1343C>T (p.Pro448Leu)
c.4799C>T (p.Pro1600Leu)
c.1123C>T
c.1310C>T (p.Pro437Leu)
c.*4519C>T (n.*4519C>T)
c.1049C>T (p.Pro350Leu)
c.5-7227C>T (n.5-7227C>T)
c.209C>T (p.Pro70Leu)
c.-98-20988C>T (n.-98-20988C>T)
n.4872C>T
n.4913C>T
 ClinVar dbSNP
17g.43071178G>CCA10592036BRCA1c.4733C>G (p.Pro1578Arg)
c.4736C>G (p.Pro1579Arg)
c.4610C>G (p.Pro1537Arg)
c.4730C>G (p.Pro1577Arg)
c.4658C>G (p.Pro1553Arg)
c.1424C>G (p.Pro475Arg)
c.1286C>G (p.Pro429Arg)
c.3848C>G (p.Pro1283Arg)
c.4613C>G (p.Pro1538Arg)
c.4802C>G (p.Pro1601Arg)
c.4595C>G (p.Pro1532Arg)
c.1298C>G (p.Pro433Arg)
c.1343C>G (p.Pro448Arg)
c.4799C>G (p.Pro1600Arg)
c.1123C>G
c.1310C>G (p.Pro437Arg)
c.*4519C>G (n.*4519C>G)
c.1049C>G (p.Pro350Arg)
c.5-7227C>G (n.5-7227C>G)
c.209C>G (p.Pro70Arg)
c.-98-20988C>G (n.-98-20988C>G)
n.4872C>G
n.4913C>G
 dbSNP
17g.43071178G=CA2260772989BRCA1c.4733C= (p.Pro1578=)
c.4736C= (p.Pro1579=)
c.4610C= (p.Pro1537=)
c.4730C= (p.Pro1577=)
c.4658C= (p.Pro1553=)
c.1424C= (p.Pro475=)
c.1286C= (p.Pro429=)
c.3848C= (p.Pro1283=)
c.4613C= (p.Pro1538=)
c.4802C= (p.Pro1601=)
c.4595C= (p.Pro1532=)
c.1298C= (p.Pro433=)
c.1343C= (p.Pro448=)
c.4799C= (p.Pro1600=)
c.1123C=
c.1310C= (p.Pro437=)
c.*4519C= (n.*4519C=)
c.1049C= (p.Pro350=)
c.5-7227C= (n.5-7227C=)
c.209C= (p.Pro70=)
c.-98-20988C= (n.-98-20988C=)
n.4872C=
n.4913C=
17g.43071178G>TCA10592037BRCA1c.4733C>A (p.Pro1578His)
c.4736C>A (p.Pro1579His)
c.4610C>A (p.Pro1537His)
c.4730C>A (p.Pro1577His)
c.4658C>A (p.Pro1553His)
c.1424C>A (p.Pro475His)
c.1286C>A (p.Pro429His)
c.3848C>A (p.Pro1283His)
c.4613C>A (p.Pro1538His)
c.4802C>A (p.Pro1601His)
c.4595C>A (p.Pro1532His)
c.1298C>A (p.Pro433His)
c.1343C>A (p.Pro448His)
c.4799C>A (p.Pro1600His)
c.1123C>A
c.1310C>A (p.Pro437His)
c.*4519C>A (n.*4519C>A)
c.1049C>A (p.Pro350His)
c.5-7227C>A (n.5-7227C>A)
c.209C>A (p.Pro70His)
c.-98-20988C>A (n.-98-20988C>A)
n.4872C>A
n.4913C>A
 dbSNP
17g.43071179G>ACA052875BRCA1c.4732C>T (p.Pro1578Ser)
c.4735C>T (p.Pro1579Ser)
c.4609C>T (p.Pro1537Ser)
c.4729C>T (p.Pro1577Ser)
c.4657C>T (p.Pro1553Ser)
c.1423C>T (p.Pro475Ser)
c.1285C>T (p.Pro429Ser)
c.3847C>T (p.Pro1283Ser)
c.4612C>T (p.Pro1538Ser)
c.4801C>T (p.Pro1601Ser)
c.4594C>T (p.Pro1532Ser)
c.1297C>T (p.Pro433Ser)
c.1342C>T (p.Pro448Ser)
c.4798C>T (p.Pro1600Ser)
c.1122C>T
c.1309C>T (p.Pro437Ser)
c.*4518C>T (n.*4518C>T)
c.1048C>T (p.Pro350Ser)
c.5-7228C>T (n.5-7228C>T)
c.208C>T (p.Pro70Ser)
c.-98-20989C>T (n.-98-20989C>T)
n.4871C>T
n.4912C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43071179G>CCA002998BRCA1c.4732C>G (p.Pro1578Ala)
c.4735C>G (p.Pro1579Ala)
c.4609C>G (p.Pro1537Ala)
c.4729C>G (p.Pro1577Ala)
c.4657C>G (p.Pro1553Ala)
c.1423C>G (p.Pro475Ala)
c.1285C>G (p.Pro429Ala)
c.3847C>G (p.Pro1283Ala)
c.4612C>G (p.Pro1538Ala)
c.4801C>G (p.Pro1601Ala)
c.4594C>G (p.Pro1532Ala)
c.1297C>G (p.Pro433Ala)
c.1342C>G (p.Pro448Ala)
c.4798C>G (p.Pro1600Ala)
c.1122C>G
c.1309C>G (p.Pro437Ala)
c.*4518C>G (n.*4518C>G)
c.1048C>G (p.Pro350Ala)
c.5-7228C>G (n.5-7228C>G)
c.208C>G (p.Pro70Ala)
c.-98-20989C>G (n.-98-20989C>G)
n.4871C>G
n.4912C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43071179G=CA2260772990BRCA1c.4732C= (p.Pro1578=)
c.4735C= (p.Pro1579=)
c.4609C= (p.Pro1537=)
c.4729C= (p.Pro1577=)
c.4657C= (p.Pro1553=)
c.1423C= (p.Pro475=)
c.1285C= (p.Pro429=)
c.3847C= (p.Pro1283=)
c.4612C= (p.Pro1538=)
c.4801C= (p.Pro1601=)
c.4594C= (p.Pro1532=)
c.1297C= (p.Pro433=)
c.1342C= (p.Pro448=)
c.4798C= (p.Pro1600=)
c.1122C=
c.1309C= (p.Pro437=)
c.*4518C= (n.*4518C=)
c.1048C= (p.Pro350=)
c.5-7228C= (n.5-7228C=)
c.208C= (p.Pro70=)
c.-98-20989C= (n.-98-20989C=)
n.4871C=
n.4912C=
17g.43071179G>TCA10592038BRCA1c.4732C>A (p.Pro1578Thr)
c.4735C>A (p.Pro1579Thr)
c.4609C>A (p.Pro1537Thr)
c.4729C>A (p.Pro1577Thr)
c.4657C>A (p.Pro1553Thr)
c.1423C>A (p.Pro475Thr)
c.1285C>A (p.Pro429Thr)
c.3847C>A (p.Pro1283Thr)
c.4612C>A (p.Pro1538Thr)
c.4801C>A (p.Pro1601Thr)
c.4594C>A (p.Pro1532Thr)
c.1297C>A (p.Pro433Thr)
c.1342C>A (p.Pro448Thr)
c.4798C>A (p.Pro1600Thr)
c.1122C>A
c.1309C>A (p.Pro437Thr)
c.*4518C>A (n.*4518C>A)
c.1048C>A (p.Pro350Thr)
c.5-7228C>A (n.5-7228C>A)
c.208C>A (p.Pro70Thr)
c.-98-20989C>A (n.-98-20989C>A)
n.4871C>A
n.4912C>A
 dbSNP
17g.43071180A>CCA10592039BRCA1c.4731T>G (p.Asp1577Glu)
c.4734T>G (p.Asp1578Glu)
c.4608T>G (p.Asp1536Glu)
c.4728T>G (p.Asp1576Glu)
c.4656T>G (p.Asp1552Glu)
c.1422T>G (p.Asp474Glu)
c.1284T>G (p.Asp428Glu)
c.3846T>G (p.Asp1282Glu)
c.4611T>G (p.Asp1537Glu)
c.4800T>G (p.Asp1600Glu)
c.4593T>G (p.Asp1531Glu)
c.1296T>G (p.Asp432Glu)
c.1341T>G (p.Asp447Glu)
c.4797T>G (p.Asp1599Glu)
c.1121T>G
c.1308T>G (p.Asp436Glu)
c.*4517T>G (n.*4517T>G)
c.1047T>G (p.Asp349Glu)
c.5-7229T>G (n.5-7229T>G)
c.207T>G (p.Asp69Glu)
c.-98-20990T>G (n.-98-20990T>G)
n.4870T>G
n.4911T>G
 dbSNP
17g.43071180A>GCA500231873BRCA1c.4731T>C (p.Asp1577=)
c.4734T>C (p.Asp1578=)
c.4608T>C (p.Asp1536=)
c.4728T>C (p.Asp1576=)
c.4656T>C (p.Asp1552=)
c.1422T>C (p.Asp474=)
c.1284T>C (p.Asp428=)
c.3846T>C (p.Asp1282=)
c.4611T>C (p.Asp1537=)
c.4800T>C (p.Asp1600=)
c.4593T>C (p.Asp1531=)
c.1296T>C (p.Asp432=)
c.1341T>C (p.Asp447=)
c.4797T>C (p.Asp1599=)
c.1121T>C
c.1308T>C (p.Asp436=)
c.*4517T>C (n.*4517T>C)
c.1047T>C (p.Asp349=)
c.5-7229T>C (n.5-7229T>C)
c.207T>C (p.Asp69=)
c.-98-20990T>C (n.-98-20990T>C)
n.4870T>C
n.4911T>C
17g.43071180A>TCA10592040BRCA1c.4731T>A (p.Asp1577Glu)
c.4734T>A (p.Asp1578Glu)
c.4608T>A (p.Asp1536Glu)
c.4728T>A (p.Asp1576Glu)
c.4656T>A (p.Asp1552Glu)
c.1422T>A (p.Asp474Glu)
c.1284T>A (p.Asp428Glu)
c.3846T>A (p.Asp1282Glu)
c.4611T>A (p.Asp1537Glu)
c.4800T>A (p.Asp1600Glu)
c.4593T>A (p.Asp1531Glu)
c.1296T>A (p.Asp432Glu)
c.1341T>A (p.Asp447Glu)
c.4797T>A (p.Asp1599Glu)
c.1121T>A
c.1308T>A (p.Asp436Glu)
c.*4517T>A (n.*4517T>A)
c.1047T>A (p.Asp349Glu)
c.5-7229T>A (n.5-7229T>A)
c.207T>A (p.Asp69Glu)
c.-98-20990T>A (n.-98-20990T>A)
n.4870T>A
n.4911T>A
 dbSNP
17g.43071181T>ACA10592041BRCA1c.4730A>T (p.Asp1577Val)
c.4733A>T (p.Asp1578Val)
c.4607A>T (p.Asp1536Val)
c.4727A>T (p.Asp1576Val)
c.4655A>T (p.Asp1552Val)
c.1421A>T (p.Asp474Val)
c.1283A>T (p.Asp428Val)
c.3845A>T (p.Asp1282Val)
c.4610A>T (p.Asp1537Val)
c.4799A>T (p.Asp1600Val)
c.4592A>T (p.Asp1531Val)
c.1295A>T (p.Asp432Val)
c.1340A>T (p.Asp447Val)
c.4796A>T (p.Asp1599Val)
c.1120A>T
c.1307A>T (p.Asp436Val)
c.*4516A>T (n.*4516A>T)
c.1046A>T (p.Asp349Val)
c.5-7230A>T (n.5-7230A>T)
c.206A>T (p.Asp69Val)
c.-98-20991A>T (n.-98-20991A>T)
n.4869A>T
n.4910A>T
 dbSNP
17g.43071181T>CCA002997BRCA1c.4730A>G (p.Asp1577Gly)
c.4733A>G (p.Asp1578Gly)
c.4607A>G (p.Asp1536Gly)
c.4727A>G (p.Asp1576Gly)
c.4655A>G (p.Asp1552Gly)
c.1421A>G (p.Asp474Gly)
c.1283A>G (p.Asp428Gly)
c.3845A>G (p.Asp1282Gly)
c.4610A>G (p.Asp1537Gly)
c.4799A>G (p.Asp1600Gly)
c.4592A>G (p.Asp1531Gly)
c.1295A>G (p.Asp432Gly)
c.1340A>G (p.Asp447Gly)
c.4796A>G (p.Asp1599Gly)
c.1120A>G
c.1307A>G (p.Asp436Gly)
c.*4516A>G (n.*4516A>G)
c.1046A>G (p.Asp349Gly)
c.5-7230A>G (n.5-7230A>G)
c.206A>G (p.Asp69Gly)
c.-98-20991A>G (n.-98-20991A>G)
n.4869A>G
n.4910A>G
 ClinVar dbSNP gnomAD v4
17g.43071181T>GCA10592042BRCA1c.4730A>C (p.Asp1577Ala)
c.4733A>C (p.Asp1578Ala)
c.4607A>C (p.Asp1536Ala)
c.4727A>C (p.Asp1576Ala)
c.4655A>C (p.Asp1552Ala)
c.1421A>C (p.Asp474Ala)
c.1283A>C (p.Asp428Ala)
c.3845A>C (p.Asp1282Ala)
c.4610A>C (p.Asp1537Ala)
c.4799A>C (p.Asp1600Ala)
c.4592A>C (p.Asp1531Ala)
c.1295A>C (p.Asp432Ala)
c.1340A>C (p.Asp447Ala)
c.4796A>C (p.Asp1599Ala)
c.1120A>C
c.1307A>C (p.Asp436Ala)
c.*4516A>C (n.*4516A>C)
c.1046A>C (p.Asp349Ala)
c.5-7230A>C (n.5-7230A>C)
c.206A>C (p.Asp69Ala)
c.-98-20991A>C (n.-98-20991A>C)
n.4869A>C
n.4910A>C
 dbSNP
17g.43071181T=CA2260772991BRCA1c.4730A= (p.Asp1577=)
c.4733A= (p.Asp1578=)
c.4607A= (p.Asp1536=)
c.4727A= (p.Asp1576=)
c.4655A= (p.Asp1552=)
c.1421A= (p.Asp474=)
c.1283A= (p.Asp428=)
c.3845A= (p.Asp1282=)
c.4610A= (p.Asp1537=)
c.4799A= (p.Asp1600=)
c.4592A= (p.Asp1531=)
c.1295A= (p.Asp432=)
c.1340A= (p.Asp447=)
c.4796A= (p.Asp1599=)
c.1120A=
c.1307A= (p.Asp436=)
c.*4516A= (n.*4516A=)
c.1046A= (p.Asp349=)
c.5-7230A= (n.5-7230A=)
c.206A= (p.Asp69=)
c.-98-20991A= (n.-98-20991A=)
n.4869A=
n.4910A=
17g.43071182C>ACA10592043BRCA1c.4729G>T (p.Asp1577Tyr)
c.4732G>T (p.Asp1578Tyr)
c.4606G>T (p.Asp1536Tyr)
c.4726G>T (p.Asp1576Tyr)
c.4654G>T (p.Asp1552Tyr)
c.1420G>T (p.Asp474Tyr)
c.1282G>T (p.Asp428Tyr)
c.3844G>T (p.Asp1282Tyr)
c.4609G>T (p.Asp1537Tyr)
c.4798G>T (p.Asp1600Tyr)
c.4591G>T (p.Asp1531Tyr)
c.1294G>T (p.Asp432Tyr)
c.1339G>T (p.Asp447Tyr)
c.4795G>T (p.Asp1599Tyr)
c.1119G>T
c.1306G>T (p.Asp436Tyr)
c.*4515G>T (n.*4515G>T)
c.1045G>T (p.Asp349Tyr)
c.5-7231G>T (n.5-7231G>T)
c.205G>T (p.Asp69Tyr)
c.-98-20992G>T (n.-98-20992G>T)
n.4868G>T
n.4909G>T
 dbSNP
17g.43071182C>GCA10592044BRCA1c.4729G>C (p.Asp1577His)
c.4732G>C (p.Asp1578His)
c.4606G>C (p.Asp1536His)
c.4726G>C (p.Asp1576His)
c.4654G>C (p.Asp1552His)
c.1420G>C (p.Asp474His)
c.1282G>C (p.Asp428His)
c.3844G>C (p.Asp1282His)
c.4609G>C (p.Asp1537His)
c.4798G>C (p.Asp1600His)
c.4591G>C (p.Asp1531His)
c.1294G>C (p.Asp432His)
c.1339G>C (p.Asp447His)
c.4795G>C (p.Asp1599His)
c.1119G>C
c.1306G>C (p.Asp436His)
c.*4515G>C (n.*4515G>C)
c.1045G>C (p.Asp349His)
c.5-7231G>C (n.5-7231G>C)
c.205G>C (p.Asp69His)
c.-98-20992G>C (n.-98-20992G>C)
n.4868G>C
n.4909G>C
 dbSNP
17g.43071182C>TCA10592045BRCA1c.4729G>A (p.Asp1577Asn)
c.4732G>A (p.Asp1578Asn)
c.4606G>A (p.Asp1536Asn)
c.4726G>A (p.Asp1576Asn)
c.4654G>A (p.Asp1552Asn)
c.1420G>A (p.Asp474Asn)
c.1282G>A (p.Asp428Asn)
c.3844G>A (p.Asp1282Asn)
c.4609G>A (p.Asp1537Asn)
c.4798G>A (p.Asp1600Asn)
c.4591G>A (p.Asp1531Asn)
c.1294G>A (p.Asp432Asn)
c.1339G>A (p.Asp447Asn)
c.4795G>A (p.Asp1599Asn)
c.1119G>A
c.1306G>A (p.Asp436Asn)
c.*4515G>A (n.*4515G>A)
c.1045G>A (p.Asp349Asn)
c.5-7231G>A (n.5-7231G>A)
c.205G>A (p.Asp69Asn)
c.-98-20992G>A (n.-98-20992G>A)
n.4868G>A
n.4909G>A
 dbSNP
17g.43071183A=CA2260772992BRCA1c.4728T= (p.Ser1576=)
c.4731T= (p.Ser1577=)
c.4605T= (p.Ser1535=)
c.4725T= (p.Ser1575=)
c.4653T= (p.Ser1551=)
c.1419T= (p.Ser473=)
c.1281T= (p.Ser427=)
c.3843T= (p.Ser1281=)
c.4608T= (p.Ser1536=)
c.4797T= (p.Ser1599=)
c.4590T= (p.Ser1530=)
c.1293T= (p.Ser431=)
c.1338T= (p.Ser446=)
c.4794T= (p.Ser1598=)
c.1118T=
c.1305T= (p.Ser435=)
c.*4514T= (n.*4514T=)
c.1044T= (p.Ser348=)
c.5-7232T= (n.5-7232T=)
c.204T= (p.Ser68=)
c.-98-20993T= (n.-98-20993T=)
n.4867T=
n.4908T=
17g.43071183A>CCA500231874BRCA1c.4728T>G (p.Ser1576=)
c.4731T>G (p.Ser1577=)
c.4605T>G (p.Ser1535=)
c.4725T>G (p.Ser1575=)
c.4653T>G (p.Ser1551=)
c.1419T>G (p.Ser473=)
c.1281T>G (p.Ser427=)
c.3843T>G (p.Ser1281=)
c.4608T>G (p.Ser1536=)
c.4797T>G (p.Ser1599=)
c.4590T>G (p.Ser1530=)
c.1293T>G (p.Ser431=)
c.1338T>G (p.Ser446=)
c.4794T>G (p.Ser1598=)
c.1118T>G
c.1305T>G (p.Ser435=)
c.*4514T>G (n.*4514T>G)
c.1044T>G (p.Ser348=)
c.5-7232T>G (n.5-7232T>G)
c.204T>G (p.Ser68=)
c.-98-20993T>G (n.-98-20993T>G)
n.4867T>G
n.4908T>G
17g.43071183A>GCA500231875BRCA1c.4728T>C (p.Ser1576=)
c.4731T>C (p.Ser1577=)
c.4605T>C (p.Ser1535=)
c.4725T>C (p.Ser1575=)
c.4653T>C (p.Ser1551=)
c.1419T>C (p.Ser473=)
c.1281T>C (p.Ser427=)
c.3843T>C (p.Ser1281=)
c.4608T>C (p.Ser1536=)
c.4797T>C (p.Ser1599=)
c.4590T>C (p.Ser1530=)
c.1293T>C (p.Ser431=)
c.1338T>C (p.Ser446=)
c.4794T>C (p.Ser1598=)
c.1118T>C
c.1305T>C (p.Ser435=)
c.*4514T>C (n.*4514T>C)
c.1044T>C (p.Ser348=)
c.5-7232T>C (n.5-7232T>C)
c.204T>C (p.Ser68=)
c.-98-20993T>C (n.-98-20993T>C)
n.4867T>C
n.4908T>C
 ClinVar dbSNP
17g.43071183A>TCA500231876BRCA1c.4728T>A (p.Ser1576=)
c.4731T>A (p.Ser1577=)
c.4605T>A (p.Ser1535=)
c.4725T>A (p.Ser1575=)
c.4653T>A (p.Ser1551=)
c.1419T>A (p.Ser473=)
c.1281T>A (p.Ser427=)
c.3843T>A (p.Ser1281=)
c.4608T>A (p.Ser1536=)
c.4797T>A (p.Ser1599=)
c.4590T>A (p.Ser1530=)
c.1293T>A (p.Ser431=)
c.1338T>A (p.Ser446=)
c.4794T>A (p.Ser1598=)
c.1118T>A
c.1305T>A (p.Ser435=)
c.*4514T>A (n.*4514T>A)
c.1044T>A (p.Ser348=)
c.5-7232T>A (n.5-7232T>A)
c.204T>A (p.Ser68=)
c.-98-20993T>A (n.-98-20993T>A)
n.4867T>A
n.4908T>A
 ClinVar dbSNP
17g.43071184G>ACA10592046BRCA1c.4727C>T (p.Ser1576Phe)
c.4730C>T (p.Ser1577Phe)
c.4604C>T (p.Ser1535Phe)
c.4724C>T (p.Ser1575Phe)
c.4652C>T (p.Ser1551Phe)
c.1418C>T (p.Ser473Phe)
c.1280C>T (p.Ser427Phe)
c.3842C>T (p.Ser1281Phe)
c.4607C>T (p.Ser1536Phe)
c.4796C>T (p.Ser1599Phe)
c.4589C>T (p.Ser1530Phe)
c.1292C>T (p.Ser431Phe)
c.1337C>T (p.Ser446Phe)
c.4793C>T (p.Ser1598Phe)
c.1117C>T
c.1304C>T (p.Ser435Phe)
c.*4513C>T (n.*4513C>T)
c.1043C>T (p.Ser348Phe)
c.5-7233C>T (n.5-7233C>T)
c.203C>T (p.Ser68Phe)
c.-98-20994C>T (n.-98-20994C>T)
n.4866C>T
n.4907C>T
 ClinVar dbSNP gnomAD v4
17g.43071184G>CCA10592047BRCA1c.4727C>G (p.Ser1576Cys)
c.4730C>G (p.Ser1577Cys)
c.4604C>G (p.Ser1535Cys)
c.4724C>G (p.Ser1575Cys)
c.4652C>G (p.Ser1551Cys)
c.1418C>G (p.Ser473Cys)
c.1280C>G (p.Ser427Cys)
c.3842C>G (p.Ser1281Cys)
c.4607C>G (p.Ser1536Cys)
c.4796C>G (p.Ser1599Cys)
c.4589C>G (p.Ser1530Cys)
c.1292C>G (p.Ser431Cys)
c.1337C>G (p.Ser446Cys)
c.4793C>G (p.Ser1598Cys)
c.1117C>G
c.1304C>G (p.Ser435Cys)
c.*4513C>G (n.*4513C>G)
c.1043C>G (p.Ser348Cys)
c.5-7233C>G (n.5-7233C>G)
c.203C>G (p.Ser68Cys)
c.-98-20994C>G (n.-98-20994C>G)
n.4866C>G
n.4907C>G
 dbSNP
17g.43071184G=CA2260772993BRCA1c.4727C= (p.Ser1576=)
c.4730C= (p.Ser1577=)
c.4604C= (p.Ser1535=)
c.4724C= (p.Ser1575=)
c.4652C= (p.Ser1551=)
c.1418C= (p.Ser473=)
c.1280C= (p.Ser427=)
c.3842C= (p.Ser1281=)
c.4607C= (p.Ser1536=)
c.4796C= (p.Ser1599=)
c.4589C= (p.Ser1530=)
c.1292C= (p.Ser431=)
c.1337C= (p.Ser446=)
c.4793C= (p.Ser1598=)
c.1117C=
c.1304C= (p.Ser435=)
c.*4513C= (n.*4513C=)
c.1043C= (p.Ser348=)
c.5-7233C= (n.5-7233C=)
c.203C= (p.Ser68=)
c.-98-20994C= (n.-98-20994C=)
n.4866C=
n.4907C=
17g.43071184G>TCA002996BRCA1c.4727C>A (p.Ser1576Tyr)
c.4730C>A (p.Ser1577Tyr)
c.4604C>A (p.Ser1535Tyr)
c.4724C>A (p.Ser1575Tyr)
c.4652C>A (p.Ser1551Tyr)
c.1418C>A (p.Ser473Tyr)
c.1280C>A (p.Ser427Tyr)
c.3842C>A (p.Ser1281Tyr)
c.4607C>A (p.Ser1536Tyr)
c.4796C>A (p.Ser1599Tyr)
c.4589C>A (p.Ser1530Tyr)
c.1292C>A (p.Ser431Tyr)
c.1337C>A (p.Ser446Tyr)
c.4793C>A (p.Ser1598Tyr)
c.1117C>A
c.1304C>A (p.Ser435Tyr)
c.*4513C>A (n.*4513C>A)
c.1043C>A (p.Ser348Tyr)
c.5-7233C>A (n.5-7233C>A)
c.203C>A (p.Ser68Tyr)
c.-98-20994C>A (n.-98-20994C>A)
n.4866C>A
n.4907C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43071185A=CA2260772994BRCA1c.4726T= (p.Ser1576=)
c.4729T= (p.Ser1577=)
c.4603T= (p.Ser1535=)
c.4723T= (p.Ser1575=)
c.4651T= (p.Ser1551=)
c.1417T= (p.Ser473=)
c.1279T= (p.Ser427=)
c.3841T= (p.Ser1281=)
c.4606T= (p.Ser1536=)
c.4795T= (p.Ser1599=)
c.4588T= (p.Ser1530=)
c.1291T= (p.Ser431=)
c.1336T= (p.Ser446=)
c.4792T= (p.Ser1598=)
c.1116T=
c.1303T= (p.Ser435=)
c.*4512T= (n.*4512T=)
c.1042T= (p.Ser348=)
c.5-7234T= (n.5-7234T=)
c.202T= (p.Ser68=)
c.-98-20995T= (n.-98-20995T=)
n.4865T=
n.4906T=
17g.43071185A>CCA10592048BRCA1c.4726T>G (p.Ser1576Ala)
c.4729T>G (p.Ser1577Ala)
c.4603T>G (p.Ser1535Ala)
c.4723T>G (p.Ser1575Ala)
c.4651T>G (p.Ser1551Ala)
c.1417T>G (p.Ser473Ala)
c.1279T>G (p.Ser427Ala)
c.3841T>G (p.Ser1281Ala)
c.4606T>G (p.Ser1536Ala)
c.4795T>G (p.Ser1599Ala)
c.4588T>G (p.Ser1530Ala)
c.1291T>G (p.Ser431Ala)
c.1336T>G (p.Ser446Ala)
c.4792T>G (p.Ser1598Ala)
c.1116T>G
c.1303T>G (p.Ser435Ala)
c.*4512T>G (n.*4512T>G)
c.1042T>G (p.Ser348Ala)
c.5-7234T>G (n.5-7234T>G)
c.202T>G (p.Ser68Ala)
c.-98-20995T>G (n.-98-20995T>G)
n.4865T>G
n.4906T>G
 ClinVar dbSNP
17g.43071185A>GCA002994BRCA1c.4726T>C (p.Ser1576Pro)
c.4729T>C (p.Ser1577Pro)
c.4603T>C (p.Ser1535Pro)
c.4723T>C (p.Ser1575Pro)
c.4651T>C (p.Ser1551Pro)
c.1417T>C (p.Ser473Pro)
c.1279T>C (p.Ser427Pro)
c.3841T>C (p.Ser1281Pro)
c.4606T>C (p.Ser1536Pro)
c.4795T>C (p.Ser1599Pro)
c.4588T>C (p.Ser1530Pro)
c.1291T>C (p.Ser431Pro)
c.1336T>C (p.Ser446Pro)
c.4792T>C (p.Ser1598Pro)
c.1116T>C
c.1303T>C (p.Ser435Pro)
c.*4512T>C (n.*4512T>C)
c.1042T>C (p.Ser348Pro)
c.5-7234T>C (n.5-7234T>C)
c.202T>C (p.Ser68Pro)
c.-98-20995T>C (n.-98-20995T>C)
n.4865T>C
n.4906T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43071185A>TCA10592049BRCA1c.4726T>A (p.Ser1576Thr)
c.4729T>A (p.Ser1577Thr)
c.4603T>A (p.Ser1535Thr)
c.4723T>A (p.Ser1575Thr)
c.4651T>A (p.Ser1551Thr)
c.1417T>A (p.Ser473Thr)
c.1279T>A (p.Ser427Thr)
c.3841T>A (p.Ser1281Thr)
c.4606T>A (p.Ser1536Thr)
c.4795T>A (p.Ser1599Thr)
c.4588T>A (p.Ser1530Thr)
c.1291T>A (p.Ser431Thr)
c.1336T>A (p.Ser446Thr)
c.4792T>A (p.Ser1598Thr)
c.1116T>A
c.1303T>A (p.Ser435Thr)
c.*4512T>A (n.*4512T>A)
c.1042T>A (p.Ser348Thr)
c.5-7234T>A (n.5-7234T>A)
c.202T>A (p.Ser68Thr)
c.-98-20995T>A (n.-98-20995T>A)
n.4865T>A
n.4906T>A
 dbSNP
17g.43071186T>ACA10592050BRCA1c.4725A>T (p.Glu1575Asp)
c.4728A>T (p.Glu1576Asp)
c.4602A>T (p.Glu1534Asp)
c.4722A>T (p.Glu1574Asp)
c.4650A>T (p.Glu1550Asp)
c.1416A>T (p.Glu472Asp)
c.1278A>T (p.Glu426Asp)
c.3840A>T (p.Glu1280Asp)
c.4605A>T (p.Glu1535Asp)
c.4794A>T (p.Glu1598Asp)
c.4587A>T (p.Glu1529Asp)
c.1290A>T (p.Glu430Asp)
c.1335A>T (p.Glu445Asp)
c.4791A>T (p.Glu1597Asp)
c.1115A>T
c.1302A>T (p.Glu434Asp)
c.*4511A>T (n.*4511A>T)
c.1041A>T (p.Glu347Asp)
c.5-7235A>T (n.5-7235A>T)
c.201A>T (p.Glu67Asp)
c.-98-20996A>T (n.-98-20996A>T)
n.4864A>T
n.4905A>T
 dbSNP
17g.43071186T>CCA500231877BRCA1c.4725A>G (p.Glu1575=)
c.4728A>G (p.Glu1576=)
c.4602A>G (p.Glu1534=)
c.4722A>G (p.Glu1574=)
c.4650A>G (p.Glu1550=)
c.1416A>G (p.Glu472=)
c.1278A>G (p.Glu426=)
c.3840A>G (p.Glu1280=)
c.4605A>G (p.Glu1535=)
c.4794A>G (p.Glu1598=)
c.4587A>G (p.Glu1529=)
c.1290A>G (p.Glu430=)
c.1335A>G (p.Glu445=)
c.4791A>G (p.Glu1597=)
c.1115A>G
c.1302A>G (p.Glu434=)
c.*4511A>G (n.*4511A>G)
c.1041A>G (p.Glu347=)
c.5-7235A>G (n.5-7235A>G)
c.201A>G (p.Glu67=)
c.-98-20996A>G (n.-98-20996A>G)
n.4864A>G
n.4905A>G
 ClinVar dbSNP gnomAD v4
17g.43071186T>GCA10592051BRCA1c.4725A>C (p.Glu1575Asp)
c.4728A>C (p.Glu1576Asp)
c.4602A>C (p.Glu1534Asp)
c.4722A>C (p.Glu1574Asp)
c.4650A>C (p.Glu1550Asp)
c.1416A>C (p.Glu472Asp)
c.1278A>C (p.Glu426Asp)
c.3840A>C (p.Glu1280Asp)
c.4605A>C (p.Glu1535Asp)
c.4794A>C (p.Glu1598Asp)
c.4587A>C (p.Glu1529Asp)
c.1290A>C (p.Glu430Asp)
c.1335A>C (p.Glu445Asp)
c.4791A>C (p.Glu1597Asp)
c.1115A>C
c.1302A>C (p.Glu434Asp)
c.*4511A>C (n.*4511A>C)
c.1041A>C (p.Glu347Asp)
c.5-7235A>C (n.5-7235A>C)
c.201A>C (p.Glu67Asp)
c.-98-20996A>C (n.-98-20996A>C)
n.4864A>C
n.4905A>C
 dbSNP
17g.43071186T=CA2260772995BRCA1c.4725A= (p.Glu1575=)
c.4728A= (p.Glu1576=)
c.4602A= (p.Glu1534=)
c.4722A= (p.Glu1574=)
c.4650A= (p.Glu1550=)
c.1416A= (p.Glu472=)
c.1278A= (p.Glu426=)
c.3840A= (p.Glu1280=)
c.4605A= (p.Glu1535=)
c.4794A= (p.Glu1598=)
c.4587A= (p.Glu1529=)
c.1290A= (p.Glu430=)
c.1335A= (p.Glu445=)
c.4791A= (p.Glu1597=)
c.1115A=
c.1302A= (p.Glu434=)
c.*4511A= (n.*4511A=)
c.1041A= (p.Glu347=)
c.5-7235A= (n.5-7235A=)
c.201A= (p.Glu67=)
c.-98-20996A= (n.-98-20996A=)
n.4864A=
n.4905A=
17g.43071187T>ACA10592052BRCA1c.4724A>T (p.Glu1575Val)
c.4727A>T (p.Glu1576Val)
c.4601A>T (p.Glu1534Val)
c.4721A>T (p.Glu1574Val)
c.4649A>T (p.Glu1550Val)
c.1415A>T (p.Glu472Val)
c.1277A>T (p.Glu426Val)
c.3839A>T (p.Glu1280Val)
c.4604A>T (p.Glu1535Val)
c.4793A>T (p.Glu1598Val)
c.4586A>T (p.Glu1529Val)
c.1289A>T (p.Glu430Val)
c.1334A>T (p.Glu445Val)
c.4790A>T (p.Glu1597Val)
c.1114A>T
c.1301A>T (p.Glu434Val)
c.*4510A>T (n.*4510A>T)
c.1040A>T (p.Glu347Val)
c.5-7236A>T (n.5-7236A>T)
c.200A>T (p.Glu67Val)
c.-98-20997A>T (n.-98-20997A>T)
n.4863A>T
n.4904A>T
 dbSNP
17g.43071187T>CCA10580510BRCA1c.4724A>G (p.Glu1575Gly)
c.4727A>G (p.Glu1576Gly)
c.4601A>G (p.Glu1534Gly)
c.4721A>G (p.Glu1574Gly)
c.4649A>G (p.Glu1550Gly)
c.1415A>G (p.Glu472Gly)
c.1277A>G (p.Glu426Gly)
c.3839A>G (p.Glu1280Gly)
c.4604A>G (p.Glu1535Gly)
c.4793A>G (p.Glu1598Gly)
c.4586A>G (p.Glu1529Gly)
c.1289A>G (p.Glu430Gly)
c.1334A>G (p.Glu445Gly)
c.4790A>G (p.Glu1597Gly)
c.1114A>G
c.1301A>G (p.Glu434Gly)
c.*4510A>G (n.*4510A>G)
c.1040A>G (p.Glu347Gly)
c.5-7236A>G (n.5-7236A>G)
c.200A>G (p.Glu67Gly)
c.-98-20997A>G (n.-98-20997A>G)
n.4863A>G
n.4904A>G
 ClinVar dbSNP
17g.43071187T>GCA10592053BRCA1c.4724A>C (p.Glu1575Ala)
c.4727A>C (p.Glu1576Ala)
c.4601A>C (p.Glu1534Ala)
c.4721A>C (p.Glu1574Ala)
c.4649A>C (p.Glu1550Ala)
c.1415A>C (p.Glu472Ala)
c.1277A>C (p.Glu426Ala)
c.3839A>C (p.Glu1280Ala)
c.4604A>C (p.Glu1535Ala)
c.4793A>C (p.Glu1598Ala)
c.4586A>C (p.Glu1529Ala)
c.1289A>C (p.Glu430Ala)
c.1334A>C (p.Glu445Ala)
c.4790A>C (p.Glu1597Ala)
c.1114A>C
c.1301A>C (p.Glu434Ala)
c.*4510A>C (n.*4510A>C)
c.1040A>C (p.Glu347Ala)
c.5-7236A>C (n.5-7236A>C)
c.200A>C (p.Glu67Ala)
c.-98-20997A>C (n.-98-20997A>C)
n.4863A>C
n.4904A>C
17g.43071187T=CA2260772996BRCA1c.4724A= (p.Glu1575=)
c.4727A= (p.Glu1576=)
c.4601A= (p.Glu1534=)
c.4721A= (p.Glu1574=)
c.4649A= (p.Glu1550=)
c.1415A= (p.Glu472=)
c.1277A= (p.Glu426=)
c.3839A= (p.Glu1280=)
c.4604A= (p.Glu1535=)
c.4793A= (p.Glu1598=)
c.4586A= (p.Glu1529=)
c.1289A= (p.Glu430=)
c.1334A= (p.Glu445=)
c.4790A= (p.Glu1597=)
c.1114A=
c.1301A= (p.Glu434=)
c.*4510A= (n.*4510A=)
c.1040A= (p.Glu347=)
c.5-7236A= (n.5-7236A=)
c.200A= (p.Glu67=)
c.-98-20997A= (n.-98-20997A=)
n.4863A=
n.4904A=
17g.43071188C>ACA10592054BRCA1c.4723G>T (p.Glu1575Ter)
c.4726G>T (p.Glu1576Ter)
c.4600G>T (p.Glu1534Ter)
c.4720G>T (p.Glu1574Ter)
c.4648G>T (p.Glu1550Ter)
c.1414G>T (p.Glu472Ter)
c.1276G>T (p.Glu426Ter)
c.3838G>T (p.Glu1280Ter)
c.4603G>T (p.Glu1535Ter)
c.4792G>T (p.Glu1598Ter)
c.4585G>T (p.Glu1529Ter)
c.1288G>T (p.Glu430Ter)
c.1333G>T (p.Glu445Ter)
c.4789G>T (p.Glu1597Ter)
c.1113G>T
c.1300G>T (p.Glu434Ter)
c.*4509G>T (n.*4509G>T)
c.1039G>T (p.Glu347Ter)
c.5-7237G>T (n.5-7237G>T)
c.199G>T (p.Glu67Ter)
c.-98-20998G>T (n.-98-20998G>T)
n.4862G>T
n.4903G>T
 dbSNP
17g.43071188C=CA2260772997BRCA1c.4723G= (p.Glu1575=)
c.4726G= (p.Glu1576=)
c.4600G= (p.Glu1534=)
c.4720G= (p.Glu1574=)
c.4648G= (p.Glu1550=)
c.1414G= (p.Glu472=)
c.1276G= (p.Glu426=)
c.3838G= (p.Glu1280=)
c.4603G= (p.Glu1535=)
c.4792G= (p.Glu1598=)
c.4585G= (p.Glu1529=)
c.1288G= (p.Glu430=)
c.1333G= (p.Glu445=)
c.4789G= (p.Glu1597=)
c.1113G=
c.1300G= (p.Glu434=)
c.*4509G= (n.*4509G=)
c.1039G= (p.Glu347=)
c.5-7237G= (n.5-7237G=)
c.199G= (p.Glu67=)
c.-98-20998G= (n.-98-20998G=)
n.4862G=
n.4903G=
17g.43071188C>GCA10592055BRCA1c.4723G>C (p.Glu1575Gln)
c.4726G>C (p.Glu1576Gln)
c.4600G>C (p.Glu1534Gln)
c.4720G>C (p.Glu1574Gln)
c.4648G>C (p.Glu1550Gln)
c.1414G>C (p.Glu472Gln)
c.1276G>C (p.Glu426Gln)
c.3838G>C (p.Glu1280Gln)
c.4603G>C (p.Glu1535Gln)
c.4792G>C (p.Glu1598Gln)
c.4585G>C (p.Glu1529Gln)
c.1288G>C (p.Glu430Gln)
c.1333G>C (p.Glu445Gln)
c.4789G>C (p.Glu1597Gln)
c.1113G>C
c.1300G>C (p.Glu434Gln)
c.*4509G>C (n.*4509G>C)
c.1039G>C (p.Glu347Gln)
c.5-7237G>C (n.5-7237G>C)
c.199G>C (p.Glu67Gln)
c.-98-20998G>C (n.-98-20998G>C)
n.4862G>C
n.4903G>C
 ClinVar dbSNP
17g.43071188C>TCA10592056BRCA1c.4723G>A (p.Glu1575Lys)
c.4726G>A (p.Glu1576Lys)
c.4600G>A (p.Glu1534Lys)
c.4720G>A (p.Glu1574Lys)
c.4648G>A (p.Glu1550Lys)
c.1414G>A (p.Glu472Lys)
c.1276G>A (p.Glu426Lys)
c.3838G>A (p.Glu1280Lys)
c.4603G>A (p.Glu1535Lys)
c.4792G>A (p.Glu1598Lys)
c.4585G>A (p.Glu1529Lys)
c.1288G>A (p.Glu430Lys)
c.1333G>A (p.Glu445Lys)
c.4789G>A (p.Glu1597Lys)
c.1113G>A
c.1300G>A (p.Glu434Lys)
c.*4509G>A (n.*4509G>A)
c.1039G>A (p.Glu347Lys)
c.5-7237G>A (n.5-7237G>A)
c.199G>A (p.Glu67Lys)
c.-98-20998G>A (n.-98-20998G>A)
n.4862G>A
n.4903G>A
 ClinVar dbSNP
17g.43071189A=CA2260772999BRCA1c.4722T= (p.Pro1574=)
c.4725T= (p.Pro1575=)
c.4599T= (p.Pro1533=)
c.4719T= (p.Pro1573=)
c.4647T= (p.Pro1549=)
c.1413T= (p.Pro471=)
c.1275T= (p.Pro425=)
c.3837T= (p.Pro1279=)
c.4602T= (p.Pro1534=)
c.4791T= (p.Pro1597=)
c.4584T= (p.Pro1528=)
c.1287T= (p.Pro429=)
c.1332T= (p.Pro444=)
c.4788T= (p.Pro1596=)
c.1112T=
c.1299T= (p.Pro433=)
c.*4508T= (n.*4508T=)
c.1038T= (p.Pro346=)
c.5-7238T= (n.5-7238T=)
c.198T= (p.Pro66=)
c.-98-20999T= (n.-98-20999T=)
n.4861T=
n.4902T=
17g.43071189A>CCA10583558BRCA1c.4722T>G (p.Pro1574=)
c.4725T>G (p.Pro1575=)
c.4599T>G (p.Pro1533=)
c.4719T>G (p.Pro1573=)
c.4647T>G (p.Pro1549=)
c.1413T>G (p.Pro471=)
c.1275T>G (p.Pro425=)
c.3837T>G (p.Pro1279=)
c.4602T>G (p.Pro1534=)
c.4791T>G (p.Pro1597=)
c.4584T>G (p.Pro1528=)
c.1287T>G (p.Pro429=)
c.1332T>G (p.Pro444=)
c.4788T>G (p.Pro1596=)
c.1112T>G
c.1299T>G (p.Pro433=)
c.*4508T>G (n.*4508T>G)
c.1038T>G (p.Pro346=)
c.5-7238T>G (n.5-7238T>G)
c.198T>G (p.Pro66=)
c.-98-20999T>G (n.-98-20999T>G)
n.4861T>G
n.4902T>G
 ClinVar dbSNP
17g.43071189A>GCA500231878BRCA1c.4722T>C (p.Pro1574=)
c.4725T>C (p.Pro1575=)
c.4599T>C (p.Pro1533=)
c.4719T>C (p.Pro1573=)
c.4647T>C (p.Pro1549=)
c.1413T>C (p.Pro471=)
c.1275T>C (p.Pro425=)
c.3837T>C (p.Pro1279=)
c.4602T>C (p.Pro1534=)
c.4791T>C (p.Pro1597=)
c.4584T>C (p.Pro1528=)
c.1287T>C (p.Pro429=)
c.1332T>C (p.Pro444=)
c.4788T>C (p.Pro1596=)
c.1112T>C
c.1299T>C (p.Pro433=)
c.*4508T>C (n.*4508T>C)
c.1038T>C (p.Pro346=)
c.5-7238T>C (n.5-7238T>C)
c.198T>C (p.Pro66=)
c.-98-20999T>C (n.-98-20999T>C)
n.4861T>C
n.4902T>C
 ClinVar dbSNP
17g.43071189A>TCA500231879BRCA1c.4722T>A (p.Pro1574=)
c.4725T>A (p.Pro1575=)
c.4599T>A (p.Pro1533=)
c.4719T>A (p.Pro1573=)
c.4647T>A (p.Pro1549=)
c.1413T>A (p.Pro471=)
c.1275T>A (p.Pro425=)
c.3837T>A (p.Pro1279=)
c.4602T>A (p.Pro1534=)
c.4791T>A (p.Pro1597=)
c.4584T>A (p.Pro1528=)
c.1287T>A (p.Pro429=)
c.1332T>A (p.Pro444=)
c.4788T>A (p.Pro1596=)
c.1112T>A
c.1299T>A (p.Pro433=)
c.*4508T>A (n.*4508T>A)
c.1038T>A (p.Pro346=)
c.5-7238T>A (n.5-7238T>A)
c.198T>A (p.Pro66=)
c.-98-20999T>A (n.-98-20999T>A)
n.4861T>A
n.4902T>A
17g.43071189_43071190delinsAGCA2260772998BRCA1c.4721_4722delinsCT (p.Pro1574=)
c.4724_4725delinsCT (p.Pro1575=)
c.4598_4599delinsCT (p.Pro1533=)
c.4718_4719delinsCT (p.Pro1573=)
c.4646_4647delinsCT (p.Pro1549=)
c.1412_1413delinsCT (p.Pro471=)
c.1274_1275delinsCT (p.Pro425=)
c.3836_3837delinsCT (p.Pro1279=)
c.4601_4602delinsCT (p.Pro1534=)
c.4790_4791delinsCT (p.Pro1597=)
c.4583_4584delinsCT (p.Pro1528=)
c.1286_1287delinsCT (p.Pro429=)
c.1331_1332delinsCT (p.Pro444=)
c.4787_4788delinsCT (p.Pro1596=)
c.1111_1112delinsCT
c.1298_1299delinsCT (p.Pro433=)
c.*4507_*4508delinsCT (n.*4507_*4508delinsCT)
c.1037_1038delinsCT (p.Pro346=)
c.5-7239_5-7238delinsCT (n.5-7239_5-7238delinsCT)
c.197_198delinsCT (p.Pro66=)
c.-98-21000_-98-20999delinsCT (n.-98-21000_-98-20999delinsCT)
n.4860_4861delinsCT
n.4901_4902delinsCT
17g.43071190G>ACA10592057BRCA1c.4721C>T (p.Pro1574Leu)
c.4724C>T (p.Pro1575Leu)
c.4598C>T (p.Pro1533Leu)
c.4718C>T (p.Pro1573Leu)
c.4646C>T (p.Pro1549Leu)
c.1412C>T (p.Pro471Leu)
c.1274C>T (p.Pro425Leu)
c.3836C>T (p.Pro1279Leu)
c.4601C>T (p.Pro1534Leu)
c.4790C>T (p.Pro1597Leu)
c.4583C>T (p.Pro1528Leu)
c.1286C>T (p.Pro429Leu)
c.1331C>T (p.Pro444Leu)
c.4787C>T (p.Pro1596Leu)
c.1111C>T
c.1298C>T (p.Pro433Leu)
c.*4507C>T (n.*4507C>T)
c.1037C>T (p.Pro346Leu)
c.5-7239C>T (n.5-7239C>T)
c.197C>T (p.Pro66Leu)
c.-98-21000C>T (n.-98-21000C>T)
n.4860C>T
n.4901C>T
 ClinVar dbSNP
17g.43071190G>CCA10592058BRCA1c.4721C>G (p.Pro1574Arg)
c.4724C>G (p.Pro1575Arg)
c.4598C>G (p.Pro1533Arg)
c.4718C>G (p.Pro1573Arg)
c.4646C>G (p.Pro1549Arg)
c.1412C>G (p.Pro471Arg)
c.1274C>G (p.Pro425Arg)
c.3836C>G (p.Pro1279Arg)
c.4601C>G (p.Pro1534Arg)
c.4790C>G (p.Pro1597Arg)
c.4583C>G (p.Pro1528Arg)
c.1286C>G (p.Pro429Arg)
c.1331C>G (p.Pro444Arg)
c.4787C>G (p.Pro1596Arg)
c.1111C>G
c.1298C>G (p.Pro433Arg)
c.*4507C>G (n.*4507C>G)
c.1037C>G (p.Pro346Arg)
c.5-7239C>G (n.5-7239C>G)
c.197C>G (p.Pro66Arg)
c.-98-21000C>G (n.-98-21000C>G)
n.4860C>G
n.4901C>G
 dbSNP gnomAD v4
17g.43071190G=CA2260773000BRCA1c.4721C= (p.Pro1574=)
c.4724C= (p.Pro1575=)
c.4598C= (p.Pro1533=)
c.4718C= (p.Pro1573=)
c.4646C= (p.Pro1549=)
c.1412C= (p.Pro471=)
c.1274C= (p.Pro425=)
c.3836C= (p.Pro1279=)
c.4601C= (p.Pro1534=)
c.4790C= (p.Pro1597=)
c.4583C= (p.Pro1528=)
c.1286C= (p.Pro429=)
c.1331C= (p.Pro444=)
c.4787C= (p.Pro1596=)
c.1111C=
c.1298C= (p.Pro433=)
c.*4507C= (n.*4507C=)
c.1037C= (p.Pro346=)
c.5-7239C= (n.5-7239C=)
c.197C= (p.Pro66=)
c.-98-21000C= (n.-98-21000C=)
n.4860C=
n.4901C=
17g.43071190G>TCA002992BRCA1c.4721C>A (p.Pro1574His)
c.4724C>A (p.Pro1575His)
c.4598C>A (p.Pro1533His)
c.4718C>A (p.Pro1573His)
c.4646C>A (p.Pro1549His)
c.1412C>A (p.Pro471His)
c.1274C>A (p.Pro425His)
c.3836C>A (p.Pro1279His)
c.4601C>A (p.Pro1534His)
c.4790C>A (p.Pro1597His)
c.4583C>A (p.Pro1528His)
c.1286C>A (p.Pro429His)
c.1331C>A (p.Pro444His)
c.4787C>A (p.Pro1596His)
c.1111C>A
c.1298C>A (p.Pro433His)
c.*4507C>A (n.*4507C>A)
c.1037C>A (p.Pro346His)
c.5-7239C>A (n.5-7239C>A)
c.197C>A (p.Pro66His)
c.-98-21000C>A (n.-98-21000C>A)
n.4860C>A
n.4901C>A
 ClinVar dbSNP
17g.43071192delCA002993BRCA1c.4721del (p.Pro1574LeufsTer26)
c.4724del (p.Pro1575LeufsTer26)
c.4598del (p.Pro1533LeufsTer26)
c.4718del (p.Pro1573LeufsTer26)
c.4646del (p.Pro1549LeufsTer26)
c.1412del (p.Pro471LeufsTer26)
c.1274del (p.Pro425LeufsTer26)
c.3836del (p.Pro1279LeufsTer26)
c.4601del (p.Pro1534LeufsTer26)
c.4790del (p.Pro1597LeufsTer26)
c.4583del (p.Pro1528LeufsTer26)
c.1286del (p.Pro429LeufsTer26)
c.1331del (p.Pro444LeufsTer26)
c.4787del (p.Pro1596LeufsTer26)
c.1111del
c.1298del (p.Pro433LeufsTer26)
c.*4507del (n.*4507del)
c.1037del (p.Pro346LeufsTer26)
c.5-7239del (n.5-7239del)
c.197del (p.Pro66LeufsTer26)
c.-98-21000del (n.-98-21000del)
n.4860del
n.4901del
 ClinVar dbSNP
17g.43071191G>ACA10592059BRCA1c.4720C>T (p.Pro1574Ser)
c.4723C>T (p.Pro1575Ser)
c.4597C>T (p.Pro1533Ser)
c.4717C>T (p.Pro1573Ser)
c.4645C>T (p.Pro1549Ser)
c.1411C>T (p.Pro471Ser)
c.1273C>T (p.Pro425Ser)
c.3835C>T (p.Pro1279Ser)
c.4600C>T (p.Pro1534Ser)
c.4789C>T (p.Pro1597Ser)
c.4582C>T (p.Pro1528Ser)
c.1285C>T (p.Pro429Ser)
c.1330C>T (p.Pro444Ser)
c.4786C>T (p.Pro1596Ser)
c.1110C>T
c.1297C>T (p.Pro433Ser)
c.*4506C>T (n.*4506C>T)
c.1036C>T (p.Pro346Ser)
c.5-7240C>T (n.5-7240C>T)
c.196C>T (p.Pro66Ser)
c.-98-21001C>T (n.-98-21001C>T)
n.4859C>T
n.4900C>T
 dbSNP
17g.43071191G>CCA10592060BRCA1c.4720C>G (p.Pro1574Ala)
c.4723C>G (p.Pro1575Ala)
c.4597C>G (p.Pro1533Ala)
c.4717C>G (p.Pro1573Ala)
c.4645C>G (p.Pro1549Ala)
c.1411C>G (p.Pro471Ala)
c.1273C>G (p.Pro425Ala)
c.3835C>G (p.Pro1279Ala)
c.4600C>G (p.Pro1534Ala)
c.4789C>G (p.Pro1597Ala)
c.4582C>G (p.Pro1528Ala)
c.1285C>G (p.Pro429Ala)
c.1330C>G (p.Pro444Ala)
c.4786C>G (p.Pro1596Ala)
c.1110C>G
c.1297C>G (p.Pro433Ala)
c.*4506C>G (n.*4506C>G)
c.1036C>G (p.Pro346Ala)
c.5-7240C>G (n.5-7240C>G)
c.196C>G (p.Pro66Ala)
c.-98-21001C>G (n.-98-21001C>G)
n.4859C>G
n.4900C>G
17g.43071191G=CA2260773001BRCA1c.4720C= (p.Pro1574=)
c.4723C= (p.Pro1575=)
c.4597C= (p.Pro1533=)
c.4717C= (p.Pro1573=)
c.4645C= (p.Pro1549=)
c.1411C= (p.Pro471=)
c.1273C= (p.Pro425=)
c.3835C= (p.Pro1279=)
c.4600C= (p.Pro1534=)
c.4789C= (p.Pro1597=)
c.4582C= (p.Pro1528=)
c.1285C= (p.Pro429=)
c.1330C= (p.Pro444=)
c.4786C= (p.Pro1596=)
c.1110C=
c.1297C= (p.Pro433=)
c.*4506C= (n.*4506C=)
c.1036C= (p.Pro346=)
c.5-7240C= (n.5-7240C=)
c.196C= (p.Pro66=)
c.-98-21001C= (n.-98-21001C=)
n.4859C=
n.4900C=
17g.43071191G>TCA10592061BRCA1c.4720C>A (p.Pro1574Thr)
c.4723C>A (p.Pro1575Thr)
c.4597C>A (p.Pro1533Thr)
c.4717C>A (p.Pro1573Thr)
c.4645C>A (p.Pro1549Thr)
c.1411C>A (p.Pro471Thr)
c.1273C>A (p.Pro425Thr)
c.3835C>A (p.Pro1279Thr)
c.4600C>A (p.Pro1534Thr)
c.4789C>A (p.Pro1597Thr)
c.4582C>A (p.Pro1528Thr)
c.1285C>A (p.Pro429Thr)
c.1330C>A (p.Pro444Thr)
c.4786C>A (p.Pro1596Thr)
c.1110C>A
c.1297C>A (p.Pro433Thr)
c.*4506C>A (n.*4506C>A)
c.1036C>A (p.Pro346Thr)
c.5-7240C>A (n.5-7240C>A)
c.196C>A (p.Pro66Thr)
c.-98-21001C>A (n.-98-21001C>A)
n.4859C>A
n.4900C>A
 ClinVar dbSNP
17g.43071192G>ACA500231880BRCA1c.4719C>T (p.Asp1573=)
c.4722C>T (p.Asp1574=)
c.4596C>T (p.Asp1532=)
c.4716C>T (p.Asp1572=)
c.4644C>T (p.Asp1548=)
c.1410C>T (p.Asp470=)
c.1272C>T (p.Asp424=)
c.3834C>T (p.Asp1278=)
c.4599C>T (p.Asp1533=)
c.4788C>T (p.Asp1596=)
c.4581C>T (p.Asp1527=)
c.1284C>T (p.Asp428=)
c.1329C>T (p.Asp443=)
c.4785C>T (p.Asp1595=)
c.1109C>T
c.1296C>T (p.Asp432=)
c.*4505C>T (n.*4505C>T)
c.1035C>T (p.Asp345=)
c.5-7241C>T (n.5-7241C>T)
c.195C>T (p.Asp65=)
c.-98-21002C>T (n.-98-21002C>T)
n.4858C>T
n.4899C>T
 ClinVar dbSNP gnomAD v4
17g.43071192G>CCA10592062BRCA1c.4719C>G (p.Asp1573Glu)
c.4722C>G (p.Asp1574Glu)
c.4596C>G (p.Asp1532Glu)
c.4716C>G (p.Asp1572Glu)
c.4644C>G (p.Asp1548Glu)
c.1410C>G (p.Asp470Glu)
c.1272C>G (p.Asp424Glu)
c.3834C>G (p.Asp1278Glu)
c.4599C>G (p.Asp1533Glu)
c.4788C>G (p.Asp1596Glu)
c.4581C>G (p.Asp1527Glu)
c.1284C>G (p.Asp428Glu)
c.1329C>G (p.Asp443Glu)
c.4785C>G (p.Asp1595Glu)
c.1109C>G
c.1296C>G (p.Asp432Glu)
c.*4505C>G (n.*4505C>G)
c.1035C>G (p.Asp345Glu)
c.5-7241C>G (n.5-7241C>G)
c.195C>G (p.Asp65Glu)
c.-98-21002C>G (n.-98-21002C>G)
n.4858C>G
n.4899C>G
 dbSNP
17g.43071192G>TCA10592063BRCA1c.4719C>A (p.Asp1573Glu)
c.4722C>A (p.Asp1574Glu)
c.4596C>A (p.Asp1532Glu)
c.4716C>A (p.Asp1572Glu)
c.4644C>A (p.Asp1548Glu)
c.1410C>A (p.Asp470Glu)
c.1272C>A (p.Asp424Glu)
c.3834C>A (p.Asp1278Glu)
c.4599C>A (p.Asp1533Glu)
c.4788C>A (p.Asp1596Glu)
c.4581C>A (p.Asp1527Glu)
c.1284C>A (p.Asp428Glu)
c.1329C>A (p.Asp443Glu)
c.4785C>A (p.Asp1595Glu)
c.1109C>A
c.1296C>A (p.Asp432Glu)
c.*4505C>A (n.*4505C>A)
c.1035C>A (p.Asp345Glu)
c.5-7241C>A (n.5-7241C>A)
c.195C>A (p.Asp65Glu)
c.-98-21002C>A (n.-98-21002C>A)
n.4858C>A
n.4899C>A
 dbSNP
17g.43071193delCA2638062624BRCA1c.4718del (p.Asp1573AlafsTer27)
c.4721del (p.Asp1574AlafsTer27)
c.4595del (p.Asp1532AlafsTer27)
c.4715del (p.Asp1572AlafsTer27)
c.4643del (p.Asp1548AlafsTer27)
c.1409del (p.Asp470AlafsTer27)
c.1271del (p.Asp424AlafsTer27)
c.3833del (p.Asp1278AlafsTer27)
c.4598del (p.Asp1533AlafsTer27)
c.4787del (p.Asp1596AlafsTer27)
c.4580del (p.Asp1527AlafsTer27)
c.1283del (p.Asp428AlafsTer27)
c.1328del (p.Asp443AlafsTer27)
c.4784del (p.Asp1595AlafsTer27)
c.1108del
c.1295del (p.Asp432AlafsTer27)
c.*4504del (n.*4504del)
c.1034del (p.Asp345AlafsTer27)
c.5-7242del (n.5-7242del)
c.194del (p.Asp65AlafsTer27)
c.-98-21003del (n.-98-21003del)
n.4857del
n.4898del
 gnomAD v4
17g.43071193T>ACA10592064BRCA1c.4718A>T (p.Asp1573Val)
c.4721A>T (p.Asp1574Val)
c.4595A>T (p.Asp1532Val)
c.4715A>T (p.Asp1572Val)
c.4643A>T (p.Asp1548Val)
c.1409A>T (p.Asp470Val)
c.1271A>T (p.Asp424Val)
c.3833A>T (p.Asp1278Val)
c.4598A>T (p.Asp1533Val)
c.4787A>T (p.Asp1596Val)
c.4580A>T (p.Asp1527Val)
c.1283A>T (p.Asp428Val)
c.1328A>T (p.Asp443Val)
c.4784A>T (p.Asp1595Val)
c.1108A>T
c.1295A>T (p.Asp432Val)
c.*4504A>T (n.*4504A>T)
c.1034A>T (p.Asp345Val)
c.5-7242A>T (n.5-7242A>T)
c.194A>T (p.Asp65Val)
c.-98-21003A>T (n.-98-21003A>T)
n.4857A>T
n.4898A>T
 dbSNP
17g.43071193T>CCA10592065BRCA1c.4718A>G (p.Asp1573Gly)
c.4721A>G (p.Asp1574Gly)
c.4595A>G (p.Asp1532Gly)
c.4715A>G (p.Asp1572Gly)
c.4643A>G (p.Asp1548Gly)
c.1409A>G (p.Asp470Gly)
c.1271A>G (p.Asp424Gly)
c.3833A>G (p.Asp1278Gly)
c.4598A>G (p.Asp1533Gly)
c.4787A>G (p.Asp1596Gly)
c.4580A>G (p.Asp1527Gly)
c.1283A>G (p.Asp428Gly)
c.1328A>G (p.Asp443Gly)
c.4784A>G (p.Asp1595Gly)
c.1108A>G
c.1295A>G (p.Asp432Gly)
c.*4504A>G (n.*4504A>G)
c.1034A>G (p.Asp345Gly)
c.5-7242A>G (n.5-7242A>G)
c.194A>G (p.Asp65Gly)
c.-98-21003A>G (n.-98-21003A>G)
n.4857A>G
n.4898A>G
 dbSNP
17g.43071193T>GCA10592066BRCA1c.4718A>C (p.Asp1573Ala)
c.4721A>C (p.Asp1574Ala)
c.4595A>C (p.Asp1532Ala)
c.4715A>C (p.Asp1572Ala)
c.4643A>C (p.Asp1548Ala)
c.1409A>C (p.Asp470Ala)
c.1271A>C (p.Asp424Ala)
c.3833A>C (p.Asp1278Ala)
c.4598A>C (p.Asp1533Ala)
c.4787A>C (p.Asp1596Ala)
c.4580A>C (p.Asp1527Ala)
c.1283A>C (p.Asp428Ala)
c.1328A>C (p.Asp443Ala)
c.4784A>C (p.Asp1595Ala)
c.1108A>C
c.1295A>C (p.Asp432Ala)
c.*4504A>C (n.*4504A>C)
c.1034A>C (p.Asp345Ala)
c.5-7242A>C (n.5-7242A>C)
c.194A>C (p.Asp65Ala)
c.-98-21003A>C (n.-98-21003A>C)
n.4857A>C
n.4898A>C
 dbSNP
17g.43071194C>ACA10592067BRCA1c.4717G>T (p.Asp1573Tyr)
c.4720G>T (p.Asp1574Tyr)
c.4594G>T (p.Asp1532Tyr)
c.4714G>T (p.Asp1572Tyr)
c.4642G>T (p.Asp1548Tyr)
c.1408G>T (p.Asp470Tyr)
c.1270G>T (p.Asp424Tyr)
c.3832G>T (p.Asp1278Tyr)
c.4597G>T (p.Asp1533Tyr)
c.4786G>T (p.Asp1596Tyr)
c.4579G>T (p.Asp1527Tyr)
c.1282G>T (p.Asp428Tyr)
c.1327G>T (p.Asp443Tyr)
c.4783G>T (p.Asp1595Tyr)
c.1107G>T
c.1294G>T (p.Asp432Tyr)
c.*4503G>T (n.*4503G>T)
c.1033G>T (p.Asp345Tyr)
c.5-7243G>T (n.5-7243G>T)
c.193G>T (p.Asp65Tyr)
c.-98-21004G>T (n.-98-21004G>T)
n.4856G>T
n.4897G>T
 ClinVar dbSNP
17g.43071194C=CA2260773002BRCA1c.4717G= (p.Asp1573=)
c.4720G= (p.Asp1574=)
c.4594G= (p.Asp1532=)
c.4714G= (p.Asp1572=)
c.4642G= (p.Asp1548=)
c.1408G= (p.Asp470=)
c.1270G= (p.Asp424=)
c.3832G= (p.Asp1278=)
c.4597G= (p.Asp1533=)
c.4786G= (p.Asp1596=)
c.4579G= (p.Asp1527=)
c.1282G= (p.Asp428=)
c.1327G= (p.Asp443=)
c.4783G= (p.Asp1595=)
c.1107G=
c.1294G= (p.Asp432=)
c.*4503G= (n.*4503G=)
c.1033G= (p.Asp345=)
c.5-7243G= (n.5-7243G=)
c.193G= (p.Asp65=)
c.-98-21004G= (n.-98-21004G=)
n.4856G=
n.4897G=
17g.43071194C>GCA10592068BRCA1c.4717G>C (p.Asp1573His)
c.4720G>C (p.Asp1574His)
c.4594G>C (p.Asp1532His)
c.4714G>C (p.Asp1572His)
c.4642G>C (p.Asp1548His)
c.1408G>C (p.Asp470His)
c.1270G>C (p.Asp424His)
c.3832G>C (p.Asp1278His)
c.4597G>C (p.Asp1533His)
c.4786G>C (p.Asp1596His)
c.4579G>C (p.Asp1527His)
c.1282G>C (p.Asp428His)
c.1327G>C (p.Asp443His)
c.4783G>C (p.Asp1595His)
c.1107G>C
c.1294G>C (p.Asp432His)
c.*4503G>C (n.*4503G>C)
c.1033G>C (p.Asp345His)
c.5-7243G>C (n.5-7243G>C)
c.193G>C (p.Asp65His)
c.-98-21004G>C (n.-98-21004G>C)
n.4856G>C
n.4897G>C
 dbSNP
17g.43071194C>TCA10592069BRCA1c.4717G>A (p.Asp1573Asn)
c.4720G>A (p.Asp1574Asn)
c.4594G>A (p.Asp1532Asn)
c.4714G>A (p.Asp1572Asn)
c.4642G>A (p.Asp1548Asn)
c.1408G>A (p.Asp470Asn)
c.1270G>A (p.Asp424Asn)
c.3832G>A (p.Asp1278Asn)
c.4597G>A (p.Asp1533Asn)
c.4786G>A (p.Asp1596Asn)
c.4579G>A (p.Asp1527Asn)
c.1282G>A (p.Asp428Asn)
c.1327G>A (p.Asp443Asn)
c.4783G>A (p.Asp1595Asn)
c.1107G>A
c.1294G>A (p.Asp432Asn)
c.*4503G>A (n.*4503G>A)
c.1033G>A (p.Asp345Asn)
c.5-7243G>A (n.5-7243G>A)
c.193G>A (p.Asp65Asn)
c.-98-21004G>A (n.-98-21004G>A)
n.4856G>A
n.4897G>A
 dbSNP
17g.43071195A=CA2260773003BRCA1c.4716T= (p.Asp1572=)
c.4719T= (p.Asp1573=)
c.4593T= (p.Asp1531=)
c.4713T= (p.Asp1571=)
c.4641T= (p.Asp1547=)
c.1407T= (p.Asp469=)
c.1269T= (p.Asp423=)
c.3831T= (p.Asp1277=)
c.4596T= (p.Asp1532=)
c.4785T= (p.Asp1595=)
c.4578T= (p.Asp1526=)
c.1281T= (p.Asp427=)
c.1326T= (p.Asp442=)
c.4782T= (p.Asp1594=)
c.1106T=
c.1293T= (p.Asp431=)
c.*4502T= (n.*4502T=)
c.1032T= (p.Asp344=)
c.5-7244T= (n.5-7244T=)
c.192T= (p.Asp64=)
c.-98-21005T= (n.-98-21005T=)
n.4855T=
n.4896T=
17g.43071195A>CCA10592070BRCA1c.4716T>G (p.Asp1572Glu)
c.4719T>G (p.Asp1573Glu)
c.4593T>G (p.Asp1531Glu)
c.4713T>G (p.Asp1571Glu)
c.4641T>G (p.Asp1547Glu)
c.1407T>G (p.Asp469Glu)
c.1269T>G (p.Asp423Glu)
c.3831T>G (p.Asp1277Glu)
c.4596T>G (p.Asp1532Glu)
c.4785T>G (p.Asp1595Glu)
c.4578T>G (p.Asp1526Glu)
c.1281T>G (p.Asp427Glu)
c.1326T>G (p.Asp442Glu)
c.4782T>G (p.Asp1594Glu)
c.1106T>G
c.1293T>G (p.Asp431Glu)
c.*4502T>G (n.*4502T>G)
c.1032T>G (p.Asp344Glu)
c.5-7244T>G (n.5-7244T>G)
c.192T>G (p.Asp64Glu)
c.-98-21005T>G (n.-98-21005T>G)
n.4855T>G
n.4896T>G
17g.43071195A>GCA16607259BRCA1c.4716T>C (p.Asp1572=)
c.4719T>C (p.Asp1573=)
c.4593T>C (p.Asp1531=)
c.4713T>C (p.Asp1571=)
c.4641T>C (p.Asp1547=)
c.1407T>C (p.Asp469=)
c.1269T>C (p.Asp423=)
c.3831T>C (p.Asp1277=)
c.4596T>C (p.Asp1532=)
c.4785T>C (p.Asp1595=)
c.4578T>C (p.Asp1526=)
c.1281T>C (p.Asp427=)
c.1326T>C (p.Asp442=)
c.4782T>C (p.Asp1594=)
c.1106T>C
c.1293T>C (p.Asp431=)
c.*4502T>C (n.*4502T>C)
c.1032T>C (p.Asp344=)
c.5-7244T>C (n.5-7244T>C)
c.192T>C (p.Asp64=)
c.-98-21005T>C (n.-98-21005T>C)
n.4855T>C
n.4896T>C
 ClinVar dbSNP
17g.43071195A>TCA10592071BRCA1c.4716T>A (p.Asp1572Glu)
c.4719T>A (p.Asp1573Glu)
c.4593T>A (p.Asp1531Glu)
c.4713T>A (p.Asp1571Glu)
c.4641T>A (p.Asp1547Glu)
c.1407T>A (p.Asp469Glu)
c.1269T>A (p.Asp423Glu)
c.3831T>A (p.Asp1277Glu)
c.4596T>A (p.Asp1532Glu)
c.4785T>A (p.Asp1595Glu)
c.4578T>A (p.Asp1526Glu)
c.1281T>A (p.Asp427Glu)
c.1326T>A (p.Asp442Glu)
c.4782T>A (p.Asp1594Glu)
c.1106T>A
c.1293T>A (p.Asp431Glu)
c.*4502T>A (n.*4502T>A)
c.1032T>A (p.Asp344Glu)
c.5-7244T>A (n.5-7244T>A)
c.192T>A (p.Asp64Glu)
c.-98-21005T>A (n.-98-21005T>A)
n.4855T>A
n.4896T>A
 dbSNP
17g.43071196T>ACA10592072BRCA1c.4715A>T (p.Asp1572Val)
c.4718A>T (p.Asp1573Val)
c.4592A>T (p.Asp1531Val)
c.4712A>T (p.Asp1571Val)
c.4640A>T (p.Asp1547Val)
c.1406A>T (p.Asp469Val)
c.1268A>T (p.Asp423Val)
c.3830A>T (p.Asp1277Val)
c.4595A>T (p.Asp1532Val)
c.4784A>T (p.Asp1595Val)
c.4577A>T (p.Asp1526Val)
c.1280A>T (p.Asp427Val)
c.1325A>T (p.Asp442Val)
c.4781A>T (p.Asp1594Val)
c.1105A>T
c.1292A>T (p.Asp431Val)
c.*4501A>T (n.*4501A>T)
c.1031A>T (p.Asp344Val)
c.5-7245A>T (n.5-7245A>T)
c.191A>T (p.Asp64Val)
c.-98-21006A>T (n.-98-21006A>T)
n.4854A>T
n.4895A>T
 dbSNP
17g.43071196T>CCA10592073BRCA1c.4715A>G (p.Asp1572Gly)
c.4718A>G (p.Asp1573Gly)
c.4592A>G (p.Asp1531Gly)
c.4712A>G (p.Asp1571Gly)
c.4640A>G (p.Asp1547Gly)
c.1406A>G (p.Asp469Gly)
c.1268A>G (p.Asp423Gly)
c.3830A>G (p.Asp1277Gly)
c.4595A>G (p.Asp1532Gly)
c.4784A>G (p.Asp1595Gly)
c.4577A>G (p.Asp1526Gly)
c.1280A>G (p.Asp427Gly)
c.1325A>G (p.Asp442Gly)
c.4781A>G (p.Asp1594Gly)
c.1105A>G
c.1292A>G (p.Asp431Gly)
c.*4501A>G (n.*4501A>G)
c.1031A>G (p.Asp344Gly)
c.5-7245A>G (n.5-7245A>G)
c.191A>G (p.Asp64Gly)
c.-98-21006A>G (n.-98-21006A>G)
n.4854A>G
n.4895A>G
 dbSNP
17g.43071196T>GCA10592074BRCA1c.4715A>C (p.Asp1572Ala)
c.4718A>C (p.Asp1573Ala)
c.4592A>C (p.Asp1531Ala)
c.4712A>C (p.Asp1571Ala)
c.4640A>C (p.Asp1547Ala)
c.1406A>C (p.Asp469Ala)
c.1268A>C (p.Asp423Ala)
c.3830A>C (p.Asp1277Ala)
c.4595A>C (p.Asp1532Ala)
c.4784A>C (p.Asp1595Ala)
c.4577A>C (p.Asp1526Ala)
c.1280A>C (p.Asp427Ala)
c.1325A>C (p.Asp442Ala)
c.4781A>C (p.Asp1594Ala)
c.1105A>C
c.1292A>C (p.Asp431Ala)
c.*4501A>C (n.*4501A>C)
c.1031A>C (p.Asp344Ala)
c.5-7245A>C (n.5-7245A>C)
c.191A>C (p.Asp64Ala)
c.-98-21006A>C (n.-98-21006A>C)
n.4854A>C
n.4895A>C
17g.43071196_43071197delinsTCCA2260773004BRCA1c.4714_4715delinsGA (p.Asp1572=)
c.4717_4718delinsGA (p.Asp1573=)
c.4591_4592delinsGA (p.Asp1531=)
c.4711_4712delinsGA (p.Asp1571=)
c.4639_4640delinsGA (p.Asp1547=)
c.1405_1406delinsGA (p.Asp469=)
c.1267_1268delinsGA (p.Asp423=)
c.3829_3830delinsGA (p.Asp1277=)
c.4594_4595delinsGA (p.Asp1532=)
c.4783_4784delinsGA (p.Asp1595=)
c.4576_4577delinsGA (p.Asp1526=)
c.1279_1280delinsGA (p.Asp427=)
c.1324_1325delinsGA (p.Asp442=)
c.4780_4781delinsGA (p.Asp1594=)
c.1104_1105delinsGA
c.1291_1292delinsGA (p.Asp431=)
c.*4500_*4501delinsGA (n.*4500_*4501delinsGA)
c.1030_1031delinsGA (p.Asp344=)
c.5-7246_5-7245delinsGA (n.5-7246_5-7245delinsGA)
c.190_191delinsGA (p.Asp64=)
c.-98-21007_-98-21006delinsGA (n.-98-21007_-98-21006delinsGA)
n.4853_4854delinsGA
n.4894_4895delinsGA
17g.43071197delCA916080200BRCA1c.4714del (p.Asp1572MetfsTer28)
c.4717del (p.Asp1573MetfsTer28)
c.4591del (p.Asp1531MetfsTer28)
c.4711del (p.Asp1571MetfsTer28)
c.4639del (p.Asp1547MetfsTer28)
c.1405del (p.Asp469MetfsTer28)
c.1267del (p.Asp423MetfsTer28)
c.3829del (p.Asp1277MetfsTer28)
c.4594del (p.Asp1532MetfsTer28)
c.4783del (p.Asp1595MetfsTer28)
c.4576del (p.Asp1526MetfsTer28)
c.1279del (p.Asp427MetfsTer28)
c.1324del (p.Asp442MetfsTer28)
c.4780del (p.Asp1594MetfsTer28)
c.1104del
c.1291del (p.Asp431MetfsTer28)
c.*4500del (n.*4500del)
c.1030del (p.Asp344MetfsTer28)
c.5-7246del (n.5-7246del)
c.190del (p.Asp64MetfsTer28)
c.-98-21007del (n.-98-21007del)
n.4853del
n.4894del
 ClinVar dbSNP
17g.43071197C>ACA10592075BRCA1c.4714G>T (p.Asp1572Tyr)
c.4717G>T (p.Asp1573Tyr)
c.4591G>T (p.Asp1531Tyr)
c.4711G>T (p.Asp1571Tyr)
c.4639G>T (p.Asp1547Tyr)
c.1405G>T (p.Asp469Tyr)
c.1267G>T (p.Asp423Tyr)
c.3829G>T (p.Asp1277Tyr)
c.4594G>T (p.Asp1532Tyr)
c.4783G>T (p.Asp1595Tyr)
c.4576G>T (p.Asp1526Tyr)
c.1279G>T (p.Asp427Tyr)
c.1324G>T (p.Asp442Tyr)
c.4780G>T (p.Asp1594Tyr)
c.1104G>T
c.1291G>T (p.Asp431Tyr)
c.*4500G>T (n.*4500G>T)
c.1030G>T (p.Asp344Tyr)
c.5-7246G>T (n.5-7246G>T)
c.190G>T (p.Asp64Tyr)
c.-98-21007G>T (n.-98-21007G>T)
n.4853G>T
n.4894G>T
 dbSNP
17g.43071197C=CA2260773005BRCA1c.4714G= (p.Asp1572=)
c.4717G= (p.Asp1573=)
c.4591G= (p.Asp1531=)
c.4711G= (p.Asp1571=)
c.4639G= (p.Asp1547=)
c.1405G= (p.Asp469=)
c.1267G= (p.Asp423=)
c.3829G= (p.Asp1277=)
c.4594G= (p.Asp1532=)
c.4783G= (p.Asp1595=)
c.4576G= (p.Asp1526=)
c.1279G= (p.Asp427=)
c.1324G= (p.Asp442=)
c.4780G= (p.Asp1594=)
c.1104G=
c.1291G= (p.Asp431=)
c.*4500G= (n.*4500G=)
c.1030G= (p.Asp344=)
c.5-7246G= (n.5-7246G=)
c.190G= (p.Asp64=)
c.-98-21007G= (n.-98-21007G=)
n.4853G=
n.4894G=
17g.43071197C>GCA10592076BRCA1c.4714G>C (p.Asp1572His)
c.4717G>C (p.Asp1573His)
c.4591G>C (p.Asp1531His)
c.4711G>C (p.Asp1571His)
c.4639G>C (p.Asp1547His)
c.1405G>C (p.Asp469His)
c.1267G>C (p.Asp423His)
c.3829G>C (p.Asp1277His)
c.4594G>C (p.Asp1532His)
c.4783G>C (p.Asp1595His)
c.4576G>C (p.Asp1526His)
c.1279G>C (p.Asp427His)
c.1324G>C (p.Asp442His)
c.4780G>C (p.Asp1594His)
c.1104G>C
c.1291G>C (p.Asp431His)
c.*4500G>C (n.*4500G>C)
c.1030G>C (p.Asp344His)
c.5-7246G>C (n.5-7246G>C)
c.190G>C (p.Asp64His)
c.-98-21007G>C (n.-98-21007G>C)
n.4853G>C
n.4894G>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43071197C>TCA10592077BRCA1c.4714G>A (p.Asp1572Asn)
c.4717G>A (p.Asp1573Asn)
c.4591G>A (p.Asp1531Asn)
c.4711G>A (p.Asp1571Asn)
c.4639G>A (p.Asp1547Asn)
c.1405G>A (p.Asp469Asn)
c.1267G>A (p.Asp423Asn)
c.3829G>A (p.Asp1277Asn)
c.4594G>A (p.Asp1532Asn)
c.4783G>A (p.Asp1595Asn)
c.4576G>A (p.Asp1526Asn)
c.1279G>A (p.Asp427Asn)
c.1324G>A (p.Asp442Asn)
c.4780G>A (p.Asp1594Asn)
c.1104G>A
c.1291G>A (p.Asp431Asn)
c.*4500G>A (n.*4500G>A)
c.1030G>A (p.Asp344Asn)
c.5-7246G>A (n.5-7246G>A)
c.190G>A (p.Asp64Asn)
c.-98-21007G>A (n.-98-21007G>A)
n.4853G>A
n.4894G>A
 dbSNP gnomAD v4
17g.43071197_43071202delinsCAGAGACA2260773006BRCA1c.4709_4714delinsTCTCTG (p.Phe1570=)
c.4712_4717delinsTCTCTG (p.Phe1571=)
c.4586_4591delinsTCTCTG (p.Phe1529=)
c.4706_4711delinsTCTCTG (p.Phe1569=)
c.4634_4639delinsTCTCTG (p.Phe1545=)
c.1400_1405delinsTCTCTG (p.Phe467=)
c.1262_1267delinsTCTCTG (p.Phe421=)
c.3824_3829delinsTCTCTG (p.Phe1275=)
c.4589_4594delinsTCTCTG (p.Phe1530=)
c.4778_4783delinsTCTCTG (p.Phe1593=)
c.4571_4576delinsTCTCTG (p.Phe1524=)
c.1274_1279delinsTCTCTG (p.Phe425=)
c.1319_1324delinsTCTCTG (p.Phe440=)
c.4775_4780delinsTCTCTG (p.Phe1592=)
c.1099_1104delinsTCTCTG
c.1286_1291delinsTCTCTG (p.Phe429=)
c.*4495_*4500delinsTCTCTG (n.*4495_*4500delinsTCTCTG)
c.1025_1030delinsTCTCTG (p.Phe342=)
c.5-7251_5-7246delinsTCTCTG (n.5-7251_5-7246delinsTCTCTG)
c.185_190delinsTCTCTG (p.Phe62=)
c.-98-21012_-98-21007delinsTCTCTG (n.-98-21012_-98-21007delinsTCTCTG)
n.4848_4853delinsTCTCTG
n.4889_4894delinsTCTCTG
17g.43071198_43074416dupCA658653641BRCA1c.4588_4714dup
c.4591_4717dup
c.4465_4591dup
c.4585_4711dup
c.4513_4639dup
c.1279_1405dup
c.1141_1267dup
c.3703_3829dup
c.4468_4594dup
c.4657_4783dup
c.4450_4576dup
c.1153_1279dup
c.1198_1324dup
c.4654_4780dup
c.978_1104dup
c.1165_1291dup
c.*4374_*4500dup
c.904_1030dup
c.5-10464_5-7246dup (n.5-10464_5-7246dup)
c.64_190dup
c.-98-24225_-98-21007dup (n.-98-24225_-98-21007dup)
n.4727_4853dup
n.4768_4894dup
17g.43071198delCA2733916232BRCA1c.4713del (p.Asp1572MetfsTer28)
c.4716del (p.Asp1573MetfsTer28)
c.4590del (p.Asp1531MetfsTer28)
c.4710del (p.Asp1571MetfsTer28)
c.4638del (p.Asp1547MetfsTer28)
c.1404del (p.Asp469MetfsTer28)
c.1266del (p.Asp423MetfsTer28)
c.3828del (p.Asp1277MetfsTer28)
c.4593del (p.Asp1532MetfsTer28)
c.4782del (p.Asp1595MetfsTer28)
c.4575del (p.Asp1526MetfsTer28)
c.1278del (p.Asp427MetfsTer28)
c.1323del (p.Asp442MetfsTer28)
c.4779del (p.Asp1594MetfsTer28)
c.1103del
c.1290del (p.Asp431MetfsTer28)
c.*4499del (n.*4499del)
c.1029del (p.Asp344MetfsTer28)
c.5-7247del (n.5-7247del)
c.189del (p.Asp64MetfsTer28)
c.-98-21008del (n.-98-21008del)
n.4852del
n.4893del
 dbSNP
17g.43071198A=CA2260773007BRCA1c.4713T= (p.Ser1571=)
c.4716T= (p.Ser1572=)
c.4590T= (p.Ser1530=)
c.4710T= (p.Ser1570=)
c.4638T= (p.Ser1546=)
c.1404T= (p.Ser468=)
c.1266T= (p.Ser422=)
c.3828T= (p.Ser1276=)
c.4593T= (p.Ser1531=)
c.4782T= (p.Ser1594=)
c.4575T= (p.Ser1525=)
c.1278T= (p.Ser426=)
c.1323T= (p.Ser441=)
c.4779T= (p.Ser1593=)
c.1103T=
c.1290T= (p.Ser430=)
c.*4499T= (n.*4499T=)
c.1029T= (p.Ser343=)
c.5-7247T= (n.5-7247T=)
c.189T= (p.Ser63=)
c.-98-21008T= (n.-98-21008T=)
n.4852T=
n.4893T=
17g.43071198A>CCA500231883BRCA1c.4713T>G (p.Ser1571=)
c.4716T>G (p.Ser1572=)
c.4590T>G (p.Ser1530=)
c.4710T>G (p.Ser1570=)
c.4638T>G (p.Ser1546=)
c.1404T>G (p.Ser468=)
c.1266T>G (p.Ser422=)
c.3828T>G (p.Ser1276=)
c.4593T>G (p.Ser1531=)
c.4782T>G (p.Ser1594=)
c.4575T>G (p.Ser1525=)
c.1278T>G (p.Ser426=)
c.1323T>G (p.Ser441=)
c.4779T>G (p.Ser1593=)
c.1103T>G
c.1290T>G (p.Ser430=)
c.*4499T>G (n.*4499T>G)
c.1029T>G (p.Ser343=)
c.5-7247T>G (n.5-7247T>G)
c.189T>G (p.Ser63=)
c.-98-21008T>G (n.-98-21008T>G)
n.4852T>G
n.4893T>G
 ClinVar dbSNP
17g.43071198A>GCA500231881BRCA1c.4713T>C (p.Ser1571=)
c.4716T>C (p.Ser1572=)
c.4590T>C (p.Ser1530=)
c.4710T>C (p.Ser1570=)
c.4638T>C (p.Ser1546=)
c.1404T>C (p.Ser468=)
c.1266T>C (p.Ser422=)
c.3828T>C (p.Ser1276=)
c.4593T>C (p.Ser1531=)
c.4782T>C (p.Ser1594=)
c.4575T>C (p.Ser1525=)
c.1278T>C (p.Ser426=)
c.1323T>C (p.Ser441=)
c.4779T>C (p.Ser1593=)
c.1103T>C
c.1290T>C (p.Ser430=)
c.*4499T>C (n.*4499T>C)
c.1029T>C (p.Ser343=)
c.5-7247T>C (n.5-7247T>C)
c.189T>C (p.Ser63=)
c.-98-21008T>C (n.-98-21008T>C)
n.4852T>C
n.4893T>C
17g.43071198A>TCA500231882BRCA1c.4713T>A (p.Ser1571=)
c.4716T>A (p.Ser1572=)
c.4590T>A (p.Ser1530=)
c.4710T>A (p.Ser1570=)
c.4638T>A (p.Ser1546=)
c.1404T>A (p.Ser468=)
c.1266T>A (p.Ser422=)
c.3828T>A (p.Ser1276=)
c.4593T>A (p.Ser1531=)
c.4782T>A (p.Ser1594=)
c.4575T>A (p.Ser1525=)
c.1278T>A (p.Ser426=)
c.1323T>A (p.Ser441=)
c.4779T>A (p.Ser1593=)
c.1103T>A
c.1290T>A (p.Ser430=)
c.*4499T>A (n.*4499T>A)
c.1029T>A (p.Ser343=)
c.5-7247T>A (n.5-7247T>A)
c.189T>A (p.Ser63=)
c.-98-21008T>A (n.-98-21008T>A)
n.4852T>A
n.4893T>A
 dbSNP
17g.43071201_43071202delCA2580612628BRCA1c.4712_4713del (p.Ser1571Ter)
c.4715_4716del (p.Ser1572Ter)
c.4589_4590del (p.Ser1530Ter)
c.4709_4710del (p.Ser1570Ter)
c.4637_4638del (p.Ser1546Ter)
c.1403_1404del (p.Ser468Ter)
c.1265_1266del (p.Ser422Ter)
c.3827_3828del (p.Ser1276Ter)
c.4592_4593del (p.Ser1531Ter)
c.4781_4782del (p.Ser1594Ter)
c.4574_4575del (p.Ser1525Ter)
c.1277_1278del (p.Ser426Ter)
c.1322_1323del (p.Ser441Ter)
c.4778_4779del (p.Ser1593Ter)
c.1102_1103del
c.1289_1290del (p.Ser430Ter)
c.*4498_*4499del (n.*4498_*4499del)
c.1028_1029del (p.Ser343Ter)
c.5-7248_5-7247del (n.5-7248_5-7247del)
c.188_189del (p.Ser63Ter)
c.-98-21009_-98-21008del (n.-98-21009_-98-21008del)
n.4851_4852del
n.4892_4893del
 ClinVar dbSNP
17g.43071202_43071206delCA002990BRCA1c.4709_4713del (p.Phe1570Ter)
c.4712_4716del (p.Phe1571Ter)
c.4586_4590del (p.Phe1529Ter)
c.4706_4710del (p.Phe1569Ter)
c.4634_4638del (p.Phe1545Ter)
c.1400_1404del (p.Phe467Ter)
c.1262_1266del (p.Phe421Ter)
c.3824_3828del (p.Phe1275Ter)
c.4589_4593del (p.Phe1530Ter)
c.4778_4782del (p.Phe1593Ter)
c.4571_4575del (p.Phe1524Ter)
c.1274_1278del (p.Phe425Ter)
c.1319_1323del (p.Phe440Ter)
c.4775_4779del (p.Phe1592Ter)
c.1099_1103del
c.1286_1290del (p.Phe429Ter)
c.*4495_*4499del (n.*4495_*4499del)
c.1025_1029del (p.Phe342Ter)
c.5-7251_5-7247del (n.5-7251_5-7247del)
c.185_189del (p.Phe62Ter)
c.-98-21012_-98-21008del (n.-98-21012_-98-21008del)
n.4848_4852del
n.4889_4893del
 ClinVar dbSNP
17g.43071199G>ACA10592078BRCA1c.4712C>T (p.Ser1571Phe)
c.4715C>T (p.Ser1572Phe)
c.4589C>T (p.Ser1530Phe)
c.4709C>T (p.Ser1570Phe)
c.4637C>T (p.Ser1546Phe)
c.1403C>T (p.Ser468Phe)
c.1265C>T (p.Ser422Phe)
c.3827C>T (p.Ser1276Phe)
c.4592C>T (p.Ser1531Phe)
c.4781C>T (p.Ser1594Phe)
c.4574C>T (p.Ser1525Phe)
c.1277C>T (p.Ser426Phe)
c.1322C>T (p.Ser441Phe)
c.4778C>T (p.Ser1593Phe)
c.1102C>T
c.1289C>T (p.Ser430Phe)
c.*4498C>T (n.*4498C>T)
c.1028C>T (p.Ser343Phe)
c.5-7248C>T (n.5-7248C>T)
c.188C>T (p.Ser63Phe)
c.-98-21009C>T (n.-98-21009C>T)
n.4851C>T
n.4892C>T
 ClinVar
17g.43071199G>CCA10592079BRCA1c.4712C>G (p.Ser1571Cys)
c.4715C>G (p.Ser1572Cys)
c.4589C>G (p.Ser1530Cys)
c.4709C>G (p.Ser1570Cys)
c.4637C>G (p.Ser1546Cys)
c.1403C>G (p.Ser468Cys)
c.1265C>G (p.Ser422Cys)
c.3827C>G (p.Ser1276Cys)
c.4592C>G (p.Ser1531Cys)
c.4781C>G (p.Ser1594Cys)
c.4574C>G (p.Ser1525Cys)
c.1277C>G (p.Ser426Cys)
c.1322C>G (p.Ser441Cys)
c.4778C>G (p.Ser1593Cys)
c.1102C>G
c.1289C>G (p.Ser430Cys)
c.*4498C>G (n.*4498C>G)
c.1028C>G (p.Ser343Cys)
c.5-7248C>G (n.5-7248C>G)
c.188C>G (p.Ser63Cys)
c.-98-21009C>G (n.-98-21009C>G)
n.4851C>G
n.4892C>G
 ClinVar
17g.43071199G>TCA10592080BRCA1c.4712C>A (p.Ser1571Tyr)
c.4715C>A (p.Ser1572Tyr)
c.4589C>A (p.Ser1530Tyr)
c.4709C>A (p.Ser1570Tyr)
c.4637C>A (p.Ser1546Tyr)
c.1403C>A (p.Ser468Tyr)
c.1265C>A (p.Ser422Tyr)
c.3827C>A (p.Ser1276Tyr)
c.4592C>A (p.Ser1531Tyr)
c.4781C>A (p.Ser1594Tyr)
c.4574C>A (p.Ser1525Tyr)
c.1277C>A (p.Ser426Tyr)
c.1322C>A (p.Ser441Tyr)
c.4778C>A (p.Ser1593Tyr)
c.1102C>A
c.1289C>A (p.Ser430Tyr)
c.*4498C>A (n.*4498C>A)
c.1028C>A (p.Ser343Tyr)
c.5-7248C>A (n.5-7248C>A)
c.188C>A (p.Ser63Tyr)
c.-98-21009C>A (n.-98-21009C>A)
n.4851C>A
n.4892C>A
17g.43071200A>CCA10592081BRCA1c.4711T>G (p.Ser1571Ala)
c.4714T>G (p.Ser1572Ala)
c.4588T>G (p.Ser1530Ala)
c.4708T>G (p.Ser1570Ala)
c.4636T>G (p.Ser1546Ala)
c.1402T>G (p.Ser468Ala)
c.1264T>G (p.Ser422Ala)
c.3826T>G (p.Ser1276Ala)
c.4591T>G (p.Ser1531Ala)
c.4780T>G (p.Ser1594Ala)
c.4573T>G (p.Ser1525Ala)
c.1276T>G (p.Ser426Ala)
c.1321T>G (p.Ser441Ala)
c.4777T>G (p.Ser1593Ala)
c.1101T>G
c.1288T>G (p.Ser430Ala)
c.*4497T>G (n.*4497T>G)
c.1027T>G (p.Ser343Ala)
c.5-7249T>G (n.5-7249T>G)
c.187T>G (p.Ser63Ala)
c.-98-21010T>G (n.-98-21010T>G)
n.4850T>G
n.4891T>G
17g.43071200A>GCA10592082BRCA1c.4711T>C (p.Ser1571Pro)
c.4714T>C (p.Ser1572Pro)
c.4588T>C (p.Ser1530Pro)
c.4708T>C (p.Ser1570Pro)
c.4636T>C (p.Ser1546Pro)
c.1402T>C (p.Ser468Pro)
c.1264T>C (p.Ser422Pro)
c.3826T>C (p.Ser1276Pro)
c.4591T>C (p.Ser1531Pro)
c.4780T>C (p.Ser1594Pro)
c.4573T>C (p.Ser1525Pro)
c.1276T>C (p.Ser426Pro)
c.1321T>C (p.Ser441Pro)
c.4777T>C (p.Ser1593Pro)
c.1101T>C
c.1288T>C (p.Ser430Pro)
c.*4497T>C (n.*4497T>C)
c.1027T>C (p.Ser343Pro)
c.5-7249T>C (n.5-7249T>C)
c.187T>C (p.Ser63Pro)
c.-98-21010T>C (n.-98-21010T>C)
n.4850T>C
n.4891T>C
 dbSNP
17g.43071200A>TCA10592083BRCA1c.4711T>A (p.Ser1571Thr)
c.4714T>A (p.Ser1572Thr)
c.4588T>A (p.Ser1530Thr)
c.4708T>A (p.Ser1570Thr)
c.4636T>A (p.Ser1546Thr)
c.1402T>A (p.Ser468Thr)
c.1264T>A (p.Ser422Thr)
c.3826T>A (p.Ser1276Thr)
c.4591T>A (p.Ser1531Thr)
c.4780T>A (p.Ser1594Thr)
c.4573T>A (p.Ser1525Thr)
c.1276T>A (p.Ser426Thr)
c.1321T>A (p.Ser441Thr)
c.4777T>A (p.Ser1593Thr)
c.1101T>A
c.1288T>A (p.Ser430Thr)
c.*4497T>A (n.*4497T>A)
c.1027T>A (p.Ser343Thr)
c.5-7249T>A (n.5-7249T>A)
c.187T>A (p.Ser63Thr)
c.-98-21010T>A (n.-98-21010T>A)
n.4850T>A
n.4891T>A
17g.43071201G>ACA500231884BRCA1c.4710C>T (p.Phe1570=)
c.4713C>T (p.Phe1571=)
c.4587C>T (p.Phe1529=)
c.4707C>T (p.Phe1569=)
c.4635C>T (p.Phe1545=)
c.1401C>T (p.Phe467=)
c.1263C>T (p.Phe421=)
c.3825C>T (p.Phe1275=)
c.4590C>T (p.Phe1530=)
c.4779C>T (p.Phe1593=)
c.4572C>T (p.Phe1524=)
c.1275C>T (p.Phe425=)
c.1320C>T (p.Phe440=)
c.4776C>T (p.Phe1592=)
c.1100C>T
c.1287C>T (p.Phe429=)
c.*4496C>T (n.*4496C>T)
c.1026C>T (p.Phe342=)
c.5-7250C>T (n.5-7250C>T)
c.186C>T (p.Phe62=)
c.-98-21011C>T (n.-98-21011C>T)
n.4849C>T
n.4890C>T
 ClinVar dbSNP
17g.43071201G>CCA052816BRCA1c.4710C>G (p.Phe1570Leu)
c.4713C>G (p.Phe1571Leu)
c.4587C>G (p.Phe1529Leu)
c.4707C>G (p.Phe1569Leu)
c.4635C>G (p.Phe1545Leu)
c.1401C>G (p.Phe467Leu)
c.1263C>G (p.Phe421Leu)
c.3825C>G (p.Phe1275Leu)
c.4590C>G (p.Phe1530Leu)
c.4779C>G (p.Phe1593Leu)
c.4572C>G (p.Phe1524Leu)
c.1275C>G (p.Phe425Leu)
c.1320C>G (p.Phe440Leu)
c.4776C>G (p.Phe1592Leu)
c.1100C>G
c.1287C>G (p.Phe429Leu)
c.*4496C>G (n.*4496C>G)
c.1026C>G (p.Phe342Leu)
c.5-7250C>G (n.5-7250C>G)
c.186C>G (p.Phe62Leu)
c.-98-21011C>G (n.-98-21011C>G)
n.4849C>G
n.4890C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43071201G=CA2260773008BRCA1c.4710C= (p.Phe1570=)
c.4713C= (p.Phe1571=)
c.4587C= (p.Phe1529=)
c.4707C= (p.Phe1569=)
c.4635C= (p.Phe1545=)
c.1401C= (p.Phe467=)
c.1263C= (p.Phe421=)
c.3825C= (p.Phe1275=)
c.4590C= (p.Phe1530=)
c.4779C= (p.Phe1593=)
c.4572C= (p.Phe1524=)
c.1275C= (p.Phe425=)
c.1320C= (p.Phe440=)
c.4776C= (p.Phe1592=)
c.1100C=
c.1287C= (p.Phe429=)
c.*4496C= (n.*4496C=)
c.1026C= (p.Phe342=)
c.5-7250C= (n.5-7250C=)
c.186C= (p.Phe62=)
c.-98-21011C= (n.-98-21011C=)
n.4849C=
n.4890C=
17g.43071201G>TCA10592084BRCA1c.4710C>A (p.Phe1570Leu)
c.4713C>A (p.Phe1571Leu)
c.4587C>A (p.Phe1529Leu)
c.4707C>A (p.Phe1569Leu)
c.4635C>A (p.Phe1545Leu)
c.1401C>A (p.Phe467Leu)
c.1263C>A (p.Phe421Leu)
c.3825C>A (p.Phe1275Leu)
c.4590C>A (p.Phe1530Leu)
c.4779C>A (p.Phe1593Leu)
c.4572C>A (p.Phe1524Leu)
c.1275C>A (p.Phe425Leu)
c.1320C>A (p.Phe440Leu)
c.4776C>A (p.Phe1592Leu)
c.1100C>A
c.1287C>A (p.Phe429Leu)
c.*4496C>A (n.*4496C>A)
c.1026C>A (p.Phe342Leu)
c.5-7250C>A (n.5-7250C>A)
c.186C>A (p.Phe62Leu)
c.-98-21011C>A (n.-98-21011C>A)
n.4849C>A
n.4890C>A
 dbSNP
17g.43071201_43071202delinsGACA2260773009BRCA1c.4709_4710delinsTC (p.Phe1570=)
c.4712_4713delinsTC (p.Phe1571=)
c.4586_4587delinsTC (p.Phe1529=)
c.4706_4707delinsTC (p.Phe1569=)
c.4634_4635delinsTC (p.Phe1545=)
c.1400_1401delinsTC (p.Phe467=)
c.1262_1263delinsTC (p.Phe421=)
c.3824_3825delinsTC (p.Phe1275=)
c.4589_4590delinsTC (p.Phe1530=)
c.4778_4779delinsTC (p.Phe1593=)
c.4571_4572delinsTC (p.Phe1524=)
c.1274_1275delinsTC (p.Phe425=)
c.1319_1320delinsTC (p.Phe440=)
c.4775_4776delinsTC (p.Phe1592=)
c.1099_1100delinsTC
c.1286_1287delinsTC (p.Phe429=)
c.*4495_*4496delinsTC (n.*4495_*4496delinsTC)
c.1025_1026delinsTC (p.Phe342=)
c.5-7251_5-7250delinsTC (n.5-7251_5-7250delinsTC)
c.185_186delinsTC (p.Phe62=)
c.-98-21012_-98-21011delinsTC (n.-98-21012_-98-21011delinsTC)
n.4848_4849delinsTC
n.4889_4890delinsTC
17g.43071202A=CA2260773010BRCA1c.4709T= (p.Phe1570=)
c.4712T= (p.Phe1571=)
c.4586T= (p.Phe1529=)
c.4706T= (p.Phe1569=)
c.4634T= (p.Phe1545=)
c.1400T= (p.Phe467=)
c.1262T= (p.Phe421=)
c.3824T= (p.Phe1275=)
c.4589T= (p.Phe1530=)
c.4778T= (p.Phe1593=)
c.4571T= (p.Phe1524=)
c.1274T= (p.Phe425=)
c.1319T= (p.Phe440=)
c.4775T= (p.Phe1592=)
c.1099T=
c.1286T= (p.Phe429=)
c.*4495T= (n.*4495T=)
c.1025T= (p.Phe342=)
c.5-7251T= (n.5-7251T=)
c.185T= (p.Phe62=)
c.-98-21012T= (n.-98-21012T=)
n.4848T=
n.4889T=
17g.43071202A>CCA10592085BRCA1c.4709T>G (p.Phe1570Cys)
c.4712T>G (p.Phe1571Cys)
c.4586T>G (p.Phe1529Cys)
c.4706T>G (p.Phe1569Cys)
c.4634T>G (p.Phe1545Cys)
c.1400T>G (p.Phe467Cys)
c.1262T>G (p.Phe421Cys)
c.3824T>G (p.Phe1275Cys)
c.4589T>G (p.Phe1530Cys)
c.4778T>G (p.Phe1593Cys)
c.4571T>G (p.Phe1524Cys)
c.1274T>G (p.Phe425Cys)
c.1319T>G (p.Phe440Cys)
c.4775T>G (p.Phe1592Cys)
c.1099T>G
c.1286T>G (p.Phe429Cys)
c.*4495T>G (n.*4495T>G)
c.1025T>G (p.Phe342Cys)
c.5-7251T>G (n.5-7251T>G)
c.185T>G (p.Phe62Cys)
c.-98-21012T>G (n.-98-21012T>G)
n.4848T>G
n.4889T>G
17g.43071202A>GCA002991BRCA1c.4709T>C (p.Phe1570Ser)
c.4712T>C (p.Phe1571Ser)
c.4586T>C (p.Phe1529Ser)
c.4706T>C (p.Phe1569Ser)
c.4634T>C (p.Phe1545Ser)
c.1400T>C (p.Phe467Ser)
c.1262T>C (p.Phe421Ser)
c.3824T>C (p.Phe1275Ser)
c.4589T>C (p.Phe1530Ser)
c.4778T>C (p.Phe1593Ser)
c.4571T>C (p.Phe1524Ser)
c.1274T>C (p.Phe425Ser)
c.1319T>C (p.Phe440Ser)
c.4775T>C (p.Phe1592Ser)
c.1099T>C
c.1286T>C (p.Phe429Ser)
c.*4495T>C (n.*4495T>C)
c.1025T>C (p.Phe342Ser)
c.5-7251T>C (n.5-7251T>C)
c.185T>C (p.Phe62Ser)
c.-98-21012T>C (n.-98-21012T>C)
n.4848T>C
n.4889T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43071202A>TCA10592086BRCA1c.4709T>A (p.Phe1570Tyr)
c.4712T>A (p.Phe1571Tyr)
c.4586T>A (p.Phe1529Tyr)
c.4706T>A (p.Phe1569Tyr)
c.4634T>A (p.Phe1545Tyr)
c.1400T>A (p.Phe467Tyr)
c.1262T>A (p.Phe421Tyr)
c.3824T>A (p.Phe1275Tyr)
c.4589T>A (p.Phe1530Tyr)
c.4778T>A (p.Phe1593Tyr)
c.4571T>A (p.Phe1524Tyr)
c.1274T>A (p.Phe425Tyr)
c.1319T>A (p.Phe440Tyr)
c.4775T>A (p.Phe1592Tyr)
c.1099T>A
c.1286T>A (p.Phe429Tyr)
c.*4495T>A (n.*4495T>A)
c.1025T>A (p.Phe342Tyr)
c.5-7251T>A (n.5-7251T>A)
c.185T>A (p.Phe62Tyr)
c.-98-21012T>A (n.-98-21012T>A)
n.4848T>A
n.4889T>A
 dbSNP
17g.43071203delCA10575941BRCA1c.4709del (p.Phe1570SerfsTer30)
c.4712del (p.Phe1571SerfsTer30)
c.4586del (p.Phe1529SerfsTer30)
c.4706del (p.Phe1569SerfsTer30)
c.4634del (p.Phe1545SerfsTer30)
c.1400del (p.Phe467SerfsTer30)
c.1262del (p.Phe421SerfsTer30)
c.3824del (p.Phe1275SerfsTer30)
c.4589del (p.Phe1530SerfsTer30)
c.4778del (p.Phe1593SerfsTer30)
c.4571del (p.Phe1524SerfsTer30)
c.1274del (p.Phe425SerfsTer30)
c.1319del (p.Phe440SerfsTer30)
c.4775del (p.Phe1592SerfsTer30)
c.1099del
c.1286del (p.Phe429SerfsTer30)
c.*4495del (n.*4495del)
c.1025del (p.Phe342SerfsTer30)
c.5-7251del (n.5-7251del)
c.185del (p.Phe62SerfsTer30)
c.-98-21012del (n.-98-21012del)
n.4848del
n.4889del
 ClinVar dbSNP
17g.43071203A=CA2260773011BRCA1c.4708T= (p.Phe1570=)
c.4711T= (p.Phe1571=)
c.4585T= (p.Phe1529=)
c.4705T= (p.Phe1569=)
c.4633T= (p.Phe1545=)
c.1399T= (p.Phe467=)
c.1261T= (p.Phe421=)
c.3823T= (p.Phe1275=)
c.4588T= (p.Phe1530=)
c.4777T= (p.Phe1593=)
c.4570T= (p.Phe1524=)
c.1273T= (p.Phe425=)
c.1318T= (p.Phe440=)
c.4774T= (p.Phe1592=)
c.1098T=
c.1285T= (p.Phe429=)
c.*4494T= (n.*4494T=)
c.1024T= (p.Phe342=)
c.5-7252T= (n.5-7252T=)
c.184T= (p.Phe62=)
c.-98-21013T= (n.-98-21013T=)
n.4847T=
n.4888T=
17g.43071203A>CCA10592087BRCA1c.4708T>G (p.Phe1570Val)
c.4711T>G (p.Phe1571Val)
c.4585T>G (p.Phe1529Val)
c.4705T>G (p.Phe1569Val)
c.4633T>G (p.Phe1545Val)
c.1399T>G (p.Phe467Val)
c.1261T>G (p.Phe421Val)
c.3823T>G (p.Phe1275Val)
c.4588T>G (p.Phe1530Val)
c.4777T>G (p.Phe1593Val)
c.4570T>G (p.Phe1524Val)
c.1273T>G (p.Phe425Val)
c.1318T>G (p.Phe440Val)
c.4774T>G (p.Phe1592Val)
c.1098T>G
c.1285T>G (p.Phe429Val)
c.*4494T>G (n.*4494T>G)
c.1024T>G (p.Phe342Val)
c.5-7252T>G (n.5-7252T>G)
c.184T>G (p.Phe62Val)
c.-98-21013T>G (n.-98-21013T>G)
n.4847T>G
n.4888T>G
17g.43071203A>GCA10592088BRCA1c.4708T>C (p.Phe1570Leu)
c.4711T>C (p.Phe1571Leu)
c.4585T>C (p.Phe1529Leu)
c.4705T>C (p.Phe1569Leu)
c.4633T>C (p.Phe1545Leu)
c.1399T>C (p.Phe467Leu)
c.1261T>C (p.Phe421Leu)
c.3823T>C (p.Phe1275Leu)
c.4588T>C (p.Phe1530Leu)
c.4777T>C (p.Phe1593Leu)
c.4570T>C (p.Phe1524Leu)
c.1273T>C (p.Phe425Leu)
c.1318T>C (p.Phe440Leu)
c.4774T>C (p.Phe1592Leu)
c.1098T>C
c.1285T>C (p.Phe429Leu)
c.*4494T>C (n.*4494T>C)
c.1024T>C (p.Phe342Leu)
c.5-7252T>C (n.5-7252T>C)
c.184T>C (p.Phe62Leu)
c.-98-21013T>C (n.-98-21013T>C)
n.4847T>C
n.4888T>C
 ClinVar dbSNP
17g.43071203A>TCA10592089BRCA1c.4708T>A (p.Phe1570Ile)
c.4711T>A (p.Phe1571Ile)
c.4585T>A (p.Phe1529Ile)
c.4705T>A (p.Phe1569Ile)
c.4633T>A (p.Phe1545Ile)
c.1399T>A (p.Phe467Ile)
c.1261T>A (p.Phe421Ile)
c.3823T>A (p.Phe1275Ile)
c.4588T>A (p.Phe1530Ile)
c.4777T>A (p.Phe1593Ile)
c.4570T>A (p.Phe1524Ile)
c.1273T>A (p.Phe425Ile)
c.1318T>A (p.Phe440Ile)
c.4774T>A (p.Phe1592Ile)
c.1098T>A
c.1285T>A (p.Phe429Ile)
c.*4494T>A (n.*4494T>A)
c.1024T>A (p.Phe342Ile)
c.5-7252T>A (n.5-7252T>A)
c.184T>A (p.Phe62Ile)
c.-98-21013T>A (n.-98-21013T>A)
n.4847T>A
n.4888T>A
 ClinVar dbSNP
17g.43071203_43071214delinsAGAGGCTGATTCCA2260773012BRCA1c.4697_4708delinsGAATCAGCCTCT (p.Gly1566=)
c.4700_4711delinsGAATCAGCCTCT (p.Gly1567=)
c.4574_4585delinsGAATCAGCCTCT (p.Gly1525=)
c.4694_4705delinsGAATCAGCCTCT (p.Gly1565=)
c.4622_4633delinsGAATCAGCCTCT (p.Gly1541=)
c.1388_1399delinsGAATCAGCCTCT (p.Gly463=)
c.1250_1261delinsGAATCAGCCTCT (p.Gly417=)
c.3812_3823delinsGAATCAGCCTCT (p.Gly1271=)
c.4577_4588delinsGAATCAGCCTCT (p.Gly1526=)
c.4766_4777delinsGAATCAGCCTCT (p.Gly1589=)
c.4559_4570delinsGAATCAGCCTCT (p.Gly1520=)
c.1262_1273delinsGAATCAGCCTCT (p.Gly421=)
c.1307_1318delinsGAATCAGCCTCT (p.Gly436=)
c.4763_4774delinsGAATCAGCCTCT (p.Gly1588=)
c.1087_1098delinsGAATCAGCCTCT
c.1274_1285delinsGAATCAGCCTCT (p.Gly425=)
c.*4483_*4494delinsGAATCAGCCTCT (n.*4483_*4494delinsGAATCAGCCTCT)
c.1013_1024delinsGAATCAGCCTCT (p.Gly338=)
c.5-7263_5-7252delinsGAATCAGCCTCT (n.5-7263_5-7252delinsGAATCAGCCTCT)
c.173_184delinsGAATCAGCCTCT (p.Gly58=)
c.-98-21024_-98-21013delinsGAATCAGCCTCT (n.-98-21024_-98-21013delinsGAATCAGCCTCT)
n.4836_4847delinsGAATCAGCCTCT
n.4877_4888delinsGAATCAGCCTCT
17g.43071204G>ACA002989BRCA1c.4707C>T (p.Leu1569=)
c.4710C>T (p.Leu1570=)
c.4584C>T (p.Leu1528=)
c.4704C>T (p.Leu1568=)
c.4632C>T (p.Leu1544=)
c.1398C>T (p.Leu466=)
c.1260C>T (p.Leu420=)
c.3822C>T (p.Leu1274=)
c.4587C>T (p.Leu1529=)
c.4776C>T (p.Leu1592=)
c.4569C>T (p.Leu1523=)
c.1272C>T (p.Leu424=)
c.1317C>T (p.Leu439=)
c.4773C>T (p.Leu1591=)
c.1097C>T
c.1284C>T (p.Leu428=)
c.*4493C>T (n.*4493C>T)
c.1023C>T (p.Leu341=)
c.5-7253C>T (n.5-7253C>T)
c.183C>T (p.Leu61=)
c.-98-21014C>T (n.-98-21014C>T)
n.4846C>T
n.4887C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43071204G>CCA500231885BRCA1c.4707C>G (p.Leu1569=)
c.4710C>G (p.Leu1570=)
c.4584C>G (p.Leu1528=)
c.4704C>G (p.Leu1568=)
c.4632C>G (p.Leu1544=)
c.1398C>G (p.Leu466=)
c.1260C>G (p.Leu420=)
c.3822C>G (p.Leu1274=)
c.4587C>G (p.Leu1529=)
c.4776C>G (p.Leu1592=)
c.4569C>G (p.Leu1523=)
c.1272C>G (p.Leu424=)
c.1317C>G (p.Leu439=)
c.4773C>G (p.Leu1591=)
c.1097C>G
c.1284C>G (p.Leu428=)
c.*4493C>G (n.*4493C>G)
c.1023C>G (p.Leu341=)
c.5-7253C>G (n.5-7253C>G)
c.183C>G (p.Leu61=)
c.-98-21014C>G (n.-98-21014C>G)
n.4846C>G
n.4887C>G
 dbSNP
17g.43071204G=CA2260773013BRCA1c.4707C= (p.Leu1569=)
c.4710C= (p.Leu1570=)
c.4584C= (p.Leu1528=)
c.4704C= (p.Leu1568=)
c.4632C= (p.Leu1544=)
c.1398C= (p.Leu466=)
c.1260C= (p.Leu420=)
c.3822C= (p.Leu1274=)
c.4587C= (p.Leu1529=)
c.4776C= (p.Leu1592=)
c.4569C= (p.Leu1523=)
c.1272C= (p.Leu424=)
c.1317C= (p.Leu439=)
c.4773C= (p.Leu1591=)
c.1097C=
c.1284C= (p.Leu428=)
c.*4493C= (n.*4493C=)
c.1023C= (p.Leu341=)
c.5-7253C= (n.5-7253C=)
c.183C= (p.Leu61=)
c.-98-21014C= (n.-98-21014C=)
n.4846C=
n.4887C=
17g.43071204G>TCA500231886BRCA1c.4707C>A (p.Leu1569=)
c.4710C>A (p.Leu1570=)
c.4584C>A (p.Leu1528=)
c.4704C>A (p.Leu1568=)
c.4632C>A (p.Leu1544=)
c.1398C>A (p.Leu466=)
c.1260C>A (p.Leu420=)
c.3822C>A (p.Leu1274=)
c.4587C>A (p.Leu1529=)
c.4776C>A (p.Leu1592=)
c.4569C>A (p.Leu1523=)
c.1272C>A (p.Leu424=)
c.1317C>A (p.Leu439=)
c.4773C>A (p.Leu1591=)
c.1097C>A
c.1284C>A (p.Leu428=)
c.*4493C>A (n.*4493C>A)
c.1023C>A (p.Leu341=)
c.5-7253C>A (n.5-7253C>A)
c.183C>A (p.Leu61=)
c.-98-21014C>A (n.-98-21014C>A)
n.4846C>A
n.4887C>A
 dbSNP
17g.43071204_43071214delinsTCA10589647BRCA1c.4697_4707delinsA (p.Gly1566AspfsTer?)
c.4700_4710delinsA (p.Gly1567AspfsTer?)
c.4574_4584delinsA (p.Gly1525AspfsTer?)
c.4694_4704delinsA (p.Gly1565AspfsTer?)
c.4622_4632delinsA (p.Gly1541AspfsTer?)
c.1388_1398delinsA (p.Gly463AspfsTer?)
c.1250_1260delinsA (p.Gly417AspfsTer?)
c.3812_3822delinsA (p.Gly1271AspfsTer?)
c.4577_4587delinsA (p.Gly1526AspfsTer?)
c.4766_4776delinsA (p.Gly1589AspfsTer?)
c.4559_4569delinsA (p.Gly1520AspfsTer?)
c.1262_1272delinsA (p.Gly421AspfsTer?)
c.1307_1317delinsA (p.Gly436AspfsTer?)
c.4763_4773delinsA (p.Gly1588AspfsTer?)
c.1087_1097delinsA
c.1274_1284delinsA (p.Gly425AspfsTer?)
c.*4483_*4493delinsA (n.*4483_*4493delinsA)
c.1013_1023delinsA (p.Gly338AspfsTer?)
c.5-7263_5-7253delinsA (n.5-7263_5-7253delinsA)
c.173_183delinsA (p.Gly58AspfsTer?)
c.-98-21024_-98-21014delinsA (n.-98-21024_-98-21014delinsA)
n.4836_4846delinsA
n.4877_4887delinsA
 ClinVar dbSNP
17g.43071205A=CA2260773015BRCA1c.4706T= (p.Leu1569=)
c.4709T= (p.Leu1570=)
c.4583T= (p.Leu1528=)
c.4703T= (p.Leu1568=)
c.4631T= (p.Leu1544=)
c.1397T= (p.Leu466=)
c.1259T= (p.Leu420=)
c.3821T= (p.Leu1274=)
c.4586T= (p.Leu1529=)
c.4775T= (p.Leu1592=)
c.4568T= (p.Leu1523=)
c.1271T= (p.Leu424=)
c.1316T= (p.Leu439=)
c.4772T= (p.Leu1591=)
c.1096T=
c.1283T= (p.Leu428=)
c.*4492T= (n.*4492T=)
c.1022T= (p.Leu341=)
c.5-7254T= (n.5-7254T=)
c.182T= (p.Leu61=)
c.-98-21015T= (n.-98-21015T=)
n.4845T=
n.4886T=
17g.43071205A>CCA10592090BRCA1c.4706T>G (p.Leu1569Arg)
c.4709T>G (p.Leu1570Arg)
c.4583T>G (p.Leu1528Arg)
c.4703T>G (p.Leu1568Arg)
c.4631T>G (p.Leu1544Arg)
c.1397T>G (p.Leu466Arg)
c.1259T>G (p.Leu420Arg)
c.3821T>G (p.Leu1274Arg)
c.4586T>G (p.Leu1529Arg)
c.4775T>G (p.Leu1592Arg)
c.4568T>G (p.Leu1523Arg)
c.1271T>G (p.Leu424Arg)
c.1316T>G (p.Leu439Arg)
c.4772T>G (p.Leu1591Arg)
c.1096T>G
c.1283T>G (p.Leu428Arg)
c.*4492T>G (n.*4492T>G)
c.1022T>G (p.Leu341Arg)
c.5-7254T>G (n.5-7254T>G)
c.182T>G (p.Leu61Arg)
c.-98-21015T>G (n.-98-21015T>G)
n.4845T>G
n.4886T>G
17g.43071205A>GCA10592091BRCA1c.4706T>C (p.Leu1569Pro)
c.4709T>C (p.Leu1570Pro)
c.4583T>C (p.Leu1528Pro)
c.4703T>C (p.Leu1568Pro)
c.4631T>C (p.Leu1544Pro)
c.1397T>C (p.Leu466Pro)
c.1259T>C (p.Leu420Pro)
c.3821T>C (p.Leu1274Pro)
c.4586T>C (p.Leu1529Pro)
c.4775T>C (p.Leu1592Pro)
c.4568T>C (p.Leu1523Pro)
c.1271T>C (p.Leu424Pro)
c.1316T>C (p.Leu439Pro)
c.4772T>C (p.Leu1591Pro)
c.1096T>C
c.1283T>C (p.Leu428Pro)
c.*4492T>C (n.*4492T>C)
c.1022T>C (p.Leu341Pro)
c.5-7254T>C (n.5-7254T>C)
c.182T>C (p.Leu61Pro)
c.-98-21015T>C (n.-98-21015T>C)
n.4845T>C
n.4886T>C
 ClinVar dbSNP COSMIC COSMIC
17g.43071205A>TCA10592092BRCA1c.4706T>A (p.Leu1569His)
c.4709T>A (p.Leu1570His)
c.4583T>A (p.Leu1528His)
c.4703T>A (p.Leu1568His)
c.4631T>A (p.Leu1544His)
c.1397T>A (p.Leu466His)
c.1259T>A (p.Leu420His)
c.3821T>A (p.Leu1274His)
c.4586T>A (p.Leu1529His)
c.4775T>A (p.Leu1592His)
c.4568T>A (p.Leu1523His)
c.1271T>A (p.Leu424His)
c.1316T>A (p.Leu439His)
c.4772T>A (p.Leu1591His)
c.1096T>A
c.1283T>A (p.Leu428His)
c.*4492T>A (n.*4492T>A)
c.1022T>A (p.Leu341His)
c.5-7254T>A (n.5-7254T>A)
c.182T>A (p.Leu61His)
c.-98-21015T>A (n.-98-21015T>A)
n.4845T>A
n.4886T>A
 dbSNP
17g.43071205dupCA348034BRCA1c.4706dup (p.Phe1570LeufsTer3)
c.4709dup (p.Phe1571LeufsTer3)
c.4583dup (p.Phe1529LeufsTer3)
c.4703dup (p.Phe1569LeufsTer3)
c.4631dup (p.Phe1545LeufsTer3)
c.1397dup (p.Phe467LeufsTer3)
c.1259dup (p.Phe421LeufsTer3)
c.3821dup (p.Phe1275LeufsTer3)
c.4586dup (p.Phe1530LeufsTer3)
c.4775dup (p.Phe1593LeufsTer3)
c.4568dup (p.Phe1524LeufsTer3)
c.1271dup (p.Phe425LeufsTer3)
c.1316dup (p.Phe440LeufsTer3)
c.4772dup (p.Phe1592LeufsTer3)
c.1096dup
c.1283dup (p.Phe429LeufsTer3)
c.*4492dup (n.*4492dup)
c.1022dup (p.Phe342LeufsTer3)
c.5-7254dup (n.5-7254dup)
c.182dup (p.Phe62LeufsTer3)
c.-98-21015dup (n.-98-21015dup)
n.4845dup
n.4886dup
 ClinVar dbSNP
17g.43071205_43071215delinsAGGCTGATTCCCA2260773014BRCA1c.4696_4706delinsGGAATCAGCCT (p.Gly1566=)
c.4699_4709delinsGGAATCAGCCT (p.Gly1567=)
c.4573_4583delinsGGAATCAGCCT (p.Gly1525=)
c.4693_4703delinsGGAATCAGCCT (p.Gly1565=)
c.4621_4631delinsGGAATCAGCCT (p.Gly1541=)
c.1387_1397delinsGGAATCAGCCT (p.Gly463=)
c.1249_1259delinsGGAATCAGCCT (p.Gly417=)
c.3811_3821delinsGGAATCAGCCT (p.Gly1271=)
c.4576_4586delinsGGAATCAGCCT (p.Gly1526=)
c.4765_4775delinsGGAATCAGCCT (p.Gly1589=)
c.4558_4568delinsGGAATCAGCCT (p.Gly1520=)
c.1261_1271delinsGGAATCAGCCT (p.Gly421=)
c.1306_1316delinsGGAATCAGCCT (p.Gly436=)
c.4762_4772delinsGGAATCAGCCT (p.Gly1588=)
c.1086_1096delinsGGAATCAGCCT
c.1273_1283delinsGGAATCAGCCT (p.Gly425=)
c.*4482_*4492delinsGGAATCAGCCT (n.*4482_*4492delinsGGAATCAGCCT)
c.1012_1022delinsGGAATCAGCCT (p.Gly338=)
c.5-7264_5-7254delinsGGAATCAGCCT (n.5-7264_5-7254delinsGGAATCAGCCT)
c.172_182delinsGGAATCAGCCT (p.Gly58=)
c.-98-21025_-98-21015delinsGGAATCAGCCT (n.-98-21025_-98-21015delinsGGAATCAGCCT)
n.4835_4845delinsGGAATCAGCCT
n.4876_4886delinsGGAATCAGCCT
17g.43071206G>ACA052791BRCA1c.4705C>T (p.Leu1569Phe)
c.4708C>T (p.Leu1570Phe)
c.4582C>T (p.Leu1528Phe)
c.4702C>T (p.Leu1568Phe)
c.4630C>T (p.Leu1544Phe)
c.1396C>T (p.Leu466Phe)
c.1258C>T (p.Leu420Phe)
c.3820C>T (p.Leu1274Phe)
c.4585C>T (p.Leu1529Phe)
c.4774C>T (p.Leu1592Phe)
c.4567C>T (p.Leu1523Phe)
c.1270C>T (p.Leu424Phe)
c.1315C>T (p.Leu439Phe)
c.4771C>T (p.Leu1591Phe)
c.1095C>T
c.1282C>T (p.Leu428Phe)
c.*4491C>T (n.*4491C>T)
c.1021C>T (p.Leu341Phe)
c.5-7255C>T (n.5-7255C>T)
c.181C>T (p.Leu61Phe)
c.-98-21016C>T (n.-98-21016C>T)
n.4844C>T
n.4885C>T
 dbSNP ExAC gnomAD v2
17g.43071206G>CCA10592093BRCA1c.4705C>G (p.Leu1569Val)
c.4708C>G (p.Leu1570Val)
c.4582C>G (p.Leu1528Val)
c.4702C>G (p.Leu1568Val)
c.4630C>G (p.Leu1544Val)
c.1396C>G (p.Leu466Val)
c.1258C>G (p.Leu420Val)
c.3820C>G (p.Leu1274Val)
c.4585C>G (p.Leu1529Val)
c.4774C>G (p.Leu1592Val)
c.4567C>G (p.Leu1523Val)
c.1270C>G (p.Leu424Val)
c.1315C>G (p.Leu439Val)
c.4771C>G (p.Leu1591Val)
c.1095C>G
c.1282C>G (p.Leu428Val)
c.*4491C>G (n.*4491C>G)
c.1021C>G (p.Leu341Val)
c.5-7255C>G (n.5-7255C>G)
c.181C>G (p.Leu61Val)
c.-98-21016C>G (n.-98-21016C>G)
n.4844C>G
n.4885C>G
 dbSNP gnomAD v4
17g.43071206G=CA2260773016BRCA1c.4705C= (p.Leu1569=)
c.4708C= (p.Leu1570=)
c.4582C= (p.Leu1528=)
c.4702C= (p.Leu1568=)
c.4630C= (p.Leu1544=)
c.1396C= (p.Leu466=)
c.1258C= (p.Leu420=)
c.3820C= (p.Leu1274=)
c.4585C= (p.Leu1529=)
c.4774C= (p.Leu1592=)
c.4567C= (p.Leu1523=)
c.1270C= (p.Leu424=)
c.1315C= (p.Leu439=)
c.4771C= (p.Leu1591=)
c.1095C=
c.1282C= (p.Leu428=)
c.*4491C= (n.*4491C=)
c.1021C= (p.Leu341=)
c.5-7255C= (n.5-7255C=)
c.181C= (p.Leu61=)
c.-98-21016C= (n.-98-21016C=)
n.4844C=
n.4885C=
17g.43071206G>TCA10592094BRCA1c.4705C>A (p.Leu1569Ile)
c.4708C>A (p.Leu1570Ile)
c.4582C>A (p.Leu1528Ile)
c.4702C>A (p.Leu1568Ile)
c.4630C>A (p.Leu1544Ile)
c.1396C>A (p.Leu466Ile)
c.1258C>A (p.Leu420Ile)
c.3820C>A (p.Leu1274Ile)
c.4585C>A (p.Leu1529Ile)
c.4774C>A (p.Leu1592Ile)
c.4567C>A (p.Leu1523Ile)
c.1270C>A (p.Leu424Ile)
c.1315C>A (p.Leu439Ile)
c.4771C>A (p.Leu1591Ile)
c.1095C>A
c.1282C>A (p.Leu428Ile)
c.*4491C>A (n.*4491C>A)
c.1021C>A (p.Leu341Ile)
c.5-7255C>A (n.5-7255C>A)
c.181C>A (p.Leu61Ile)
c.-98-21016C>A (n.-98-21016C>A)
n.4844C>A
n.4885C>A
 dbSNP
17g.43071206_43071215delCA10589648BRCA1c.4696_4705del (p.Gly1566SerfsTer?)
c.4699_4708del (p.Gly1567SerfsTer?)
c.4573_4582del (p.Gly1525SerfsTer?)
c.4693_4702del (p.Gly1565SerfsTer?)
c.4621_4630del (p.Gly1541SerfsTer?)
c.1387_1396del (p.Gly463SerfsTer?)
c.1249_1258del (p.Gly417SerfsTer?)
c.3811_3820del (p.Gly1271SerfsTer?)
c.4576_4585del (p.Gly1526SerfsTer?)
c.4765_4774del (p.Gly1589SerfsTer?)
c.4558_4567del (p.Gly1520SerfsTer?)
c.1261_1270del (p.Gly421SerfsTer?)
c.1306_1315del (p.Gly436SerfsTer?)
c.4762_4771del (p.Gly1588SerfsTer?)
c.1086_1095del
c.1273_1282del (p.Gly425SerfsTer?)
c.*4482_*4491del (n.*4482_*4491del)
c.1012_1021del (p.Gly338SerfsTer?)
c.5-7264_5-7255del (n.5-7264_5-7255del)
c.172_181del (p.Gly58SerfsTer?)
c.-98-21025_-98-21016del (n.-98-21025_-98-21016del)
n.4835_4844del
n.4876_4885del
 ClinVar dbSNP
17g.43071207G>ACA500231887BRCA1c.4704C>T (p.Ser1568=)
c.4707C>T (p.Ser1569=)
c.4581C>T (p.Ser1527=)
c.4701C>T (p.Ser1567=)
c.4629C>T (p.Ser1543=)
c.1395C>T (p.Ser465=)
c.1257C>T (p.Ser419=)
c.3819C>T (p.Ser1273=)
c.4584C>T (p.Ser1528=)
c.4773C>T (p.Ser1591=)
c.4566C>T (p.Ser1522=)
c.1269C>T (p.Ser423=)
c.1314C>T (p.Ser438=)
c.4770C>T (p.Ser1590=)
c.1094C>T
c.1281C>T (p.Ser427=)
c.*4490C>T (n.*4490C>T)
c.1020C>T (p.Ser340=)
c.5-7256C>T (n.5-7256C>T)
c.180C>T (p.Ser60=)
c.-98-21017C>T (n.-98-21017C>T)
n.4843C>T
n.4884C>T
 ClinVar dbSNP gnomAD v4
17g.43071207G>CCA10592095BRCA1c.4704C>G (p.Ser1568Arg)
c.4707C>G (p.Ser1569Arg)
c.4581C>G (p.Ser1527Arg)
c.4701C>G (p.Ser1567Arg)
c.4629C>G (p.Ser1543Arg)
c.1395C>G (p.Ser465Arg)
c.1257C>G (p.Ser419Arg)
c.3819C>G (p.Ser1273Arg)
c.4584C>G (p.Ser1528Arg)
c.4773C>G (p.Ser1591Arg)
c.4566C>G (p.Ser1522Arg)
c.1269C>G (p.Ser423Arg)
c.1314C>G (p.Ser438Arg)
c.4770C>G (p.Ser1590Arg)
c.1094C>G
c.1281C>G (p.Ser427Arg)
c.*4490C>G (n.*4490C>G)
c.1020C>G (p.Ser340Arg)
c.5-7256C>G (n.5-7256C>G)
c.180C>G (p.Ser60Arg)
c.-98-21017C>G (n.-98-21017C>G)
n.4843C>G
n.4884C>G
 dbSNP
17g.43071207G>TCA10592096BRCA1c.4704C>A (p.Ser1568Arg)
c.4707C>A (p.Ser1569Arg)
c.4581C>A (p.Ser1527Arg)
c.4701C>A (p.Ser1567Arg)
c.4629C>A (p.Ser1543Arg)
c.1395C>A (p.Ser465Arg)
c.1257C>A (p.Ser419Arg)
c.3819C>A (p.Ser1273Arg)
c.4584C>A (p.Ser1528Arg)
c.4773C>A (p.Ser1591Arg)
c.4566C>A (p.Ser1522Arg)
c.1269C>A (p.Ser423Arg)
c.1314C>A (p.Ser438Arg)
c.4770C>A (p.Ser1590Arg)
c.1094C>A
c.1281C>A (p.Ser427Arg)
c.*4490C>A (n.*4490C>A)
c.1020C>A (p.Ser340Arg)
c.5-7256C>A (n.5-7256C>A)
c.180C>A (p.Ser60Arg)
c.-98-21017C>A (n.-98-21017C>A)
n.4843C>A
n.4884C>A
 dbSNP
17g.43071208C>ACA10592097BRCA1c.4703G>T (p.Ser1568Ile)
c.4706G>T (p.Ser1569Ile)
c.4580G>T (p.Ser1527Ile)
c.4700G>T (p.Ser1567Ile)
c.4628G>T (p.Ser1543Ile)
c.1394G>T (p.Ser465Ile)
c.1256G>T (p.Ser419Ile)
c.3818G>T (p.Ser1273Ile)
c.4583G>T (p.Ser1528Ile)
c.4772G>T (p.Ser1591Ile)
c.4565G>T (p.Ser1522Ile)
c.1268G>T (p.Ser423Ile)
c.1313G>T (p.Ser438Ile)
c.4769G>T (p.Ser1590Ile)
c.1093G>T
c.1280G>T (p.Ser427Ile)
c.*4489G>T (n.*4489G>T)
c.1019G>T (p.Ser340Ile)
c.5-7257G>T (n.5-7257G>T)
c.179G>T (p.Ser60Ile)
c.-98-21018G>T (n.-98-21018G>T)
n.4842G>T
n.4883G>T
 dbSNP
17g.43071208C=CA2260773017BRCA1c.4703G= (p.Ser1568=)
c.4706G= (p.Ser1569=)
c.4580G= (p.Ser1527=)
c.4700G= (p.Ser1567=)
c.4628G= (p.Ser1543=)
c.1394G= (p.Ser465=)
c.1256G= (p.Ser419=)
c.3818G= (p.Ser1273=)
c.4583G= (p.Ser1528=)
c.4772G= (p.Ser1591=)
c.4565G= (p.Ser1522=)
c.1268G= (p.Ser423=)
c.1313G= (p.Ser438=)
c.4769G= (p.Ser1590=)
c.1093G=
c.1280G= (p.Ser427=)
c.*4489G= (n.*4489G=)
c.1019G= (p.Ser340=)
c.5-7257G= (n.5-7257G=)
c.179G= (p.Ser60=)
c.-98-21018G= (n.-98-21018G=)
n.4842G=
n.4883G=
17g.43071208C>GCA10592098BRCA1c.4703G>C (p.Ser1568Thr)
c.4706G>C (p.Ser1569Thr)
c.4580G>C (p.Ser1527Thr)
c.4700G>C (p.Ser1567Thr)
c.4628G>C (p.Ser1543Thr)
c.1394G>C (p.Ser465Thr)
c.1256G>C (p.Ser419Thr)
c.3818G>C (p.Ser1273Thr)
c.4583G>C (p.Ser1528Thr)
c.4772G>C (p.Ser1591Thr)
c.4565G>C (p.Ser1522Thr)
c.1268G>C (p.Ser423Thr)
c.1313G>C (p.Ser438Thr)
c.4769G>C (p.Ser1590Thr)
c.1093G>C
c.1280G>C (p.Ser427Thr)
c.*4489G>C (n.*4489G>C)
c.1019G>C (p.Ser340Thr)
c.5-7257G>C (n.5-7257G>C)
c.179G>C (p.Ser60Thr)
c.-98-21018G>C (n.-98-21018G>C)
n.4842G>C
n.4883G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43071208C>TCA10592099BRCA1c.4703G>A (p.Ser1568Asn)
c.4706G>A (p.Ser1569Asn)
c.4580G>A (p.Ser1527Asn)
c.4700G>A (p.Ser1567Asn)
c.4628G>A (p.Ser1543Asn)
c.1394G>A (p.Ser465Asn)
c.1256G>A (p.Ser419Asn)
c.3818G>A (p.Ser1273Asn)
c.4583G>A (p.Ser1528Asn)
c.4772G>A (p.Ser1591Asn)
c.4565G>A (p.Ser1522Asn)
c.1268G>A (p.Ser423Asn)
c.1313G>A (p.Ser438Asn)
c.4769G>A (p.Ser1590Asn)
c.1093G>A
c.1280G>A (p.Ser427Asn)
c.*4489G>A (n.*4489G>A)
c.1019G>A (p.Ser340Asn)
c.5-7257G>A (n.5-7257G>A)
c.179G>A (p.Ser60Asn)
c.-98-21018G>A (n.-98-21018G>A)
n.4842G>A
n.4883G>A
 dbSNP
17g.43071209T>ACA10592100BRCA1c.4702A>T (p.Ser1568Cys)
c.4705A>T (p.Ser1569Cys)
c.4579A>T (p.Ser1527Cys)
c.4699A>T (p.Ser1567Cys)
c.4627A>T (p.Ser1543Cys)
c.1393A>T (p.Ser465Cys)
c.1255A>T (p.Ser419Cys)
c.3817A>T (p.Ser1273Cys)
c.4582A>T (p.Ser1528Cys)
c.4771A>T (p.Ser1591Cys)
c.4564A>T (p.Ser1522Cys)
c.1267A>T (p.Ser423Cys)
c.1312A>T (p.Ser438Cys)
c.4768A>T (p.Ser1590Cys)
c.1092A>T
c.1279A>T (p.Ser427Cys)
c.*4488A>T (n.*4488A>T)
c.1018A>T (p.Ser340Cys)
c.5-7258A>T (n.5-7258A>T)
c.178A>T (p.Ser60Cys)
c.-98-21019A>T (n.-98-21019A>T)
n.4841A>T
n.4882A>T
 gnomAD v4
17g.43071209T>CCA10592101BRCA1c.4702A>G (p.Ser1568Gly)
c.4705A>G (p.Ser1569Gly)
c.4579A>G (p.Ser1527Gly)
c.4699A>G (p.Ser1567Gly)
c.4627A>G (p.Ser1543Gly)
c.1393A>G (p.Ser465Gly)
c.1255A>G (p.Ser419Gly)
c.3817A>G (p.Ser1273Gly)
c.4582A>G (p.Ser1528Gly)
c.4771A>G (p.Ser1591Gly)
c.4564A>G (p.Ser1522Gly)
c.1267A>G (p.Ser423Gly)
c.1312A>G (p.Ser438Gly)
c.4768A>G (p.Ser1590Gly)
c.1092A>G
c.1279A>G (p.Ser427Gly)
c.*4488A>G (n.*4488A>G)
c.1018A>G (p.Ser340Gly)
c.5-7258A>G (n.5-7258A>G)
c.178A>G (p.Ser60Gly)
c.-98-21019A>G (n.-98-21019A>G)
n.4841A>G
n.4882A>G
17g.43071209T>GCA10592102BRCA1c.4702A>C (p.Ser1568Arg)
c.4705A>C (p.Ser1569Arg)
c.4579A>C (p.Ser1527Arg)
c.4699A>C (p.Ser1567Arg)
c.4627A>C (p.Ser1543Arg)
c.1393A>C (p.Ser465Arg)
c.1255A>C (p.Ser419Arg)
c.3817A>C (p.Ser1273Arg)
c.4582A>C (p.Ser1528Arg)
c.4771A>C (p.Ser1591Arg)
c.4564A>C (p.Ser1522Arg)
c.1267A>C (p.Ser423Arg)
c.1312A>C (p.Ser438Arg)
c.4768A>C (p.Ser1590Arg)
c.1092A>C
c.1279A>C (p.Ser427Arg)
c.*4488A>C (n.*4488A>C)
c.1018A>C (p.Ser340Arg)
c.5-7258A>C (n.5-7258A>C)
c.178A>C (p.Ser60Arg)
c.-98-21019A>C (n.-98-21019A>C)
n.4841A>C
n.4882A>C
17g.43071209T=CA2260773018BRCA1c.4702A= (p.Ser1568=)
c.4705A= (p.Ser1569=)
c.4579A= (p.Ser1527=)
c.4699A= (p.Ser1567=)
c.4627A= (p.Ser1543=)
c.1393A= (p.Ser465=)
c.1255A= (p.Ser419=)
c.3817A= (p.Ser1273=)
c.4582A= (p.Ser1528=)
c.4771A= (p.Ser1591=)
c.4564A= (p.Ser1522=)
c.1267A= (p.Ser423=)
c.1312A= (p.Ser438=)
c.4768A= (p.Ser1590=)
c.1092A=
c.1279A= (p.Ser427=)
c.*4488A= (n.*4488A=)
c.1018A= (p.Ser340=)
c.5-7258A= (n.5-7258A=)
c.178A= (p.Ser60=)
c.-98-21019A= (n.-98-21019A=)
n.4841A=
n.4882A=
17g.43071210G>ACA10575942BRCA1c.4701C>T (p.Ile1567=)
c.4704C>T (p.Ile1568=)
c.4578C>T (p.Ile1526=)
c.4698C>T (p.Ile1566=)
c.4626C>T (p.Ile1542=)
c.1392C>T (p.Ile464=)
c.1254C>T (p.Ile418=)
c.3816C>T (p.Ile1272=)
c.4581C>T (p.Ile1527=)
c.4770C>T (p.Ile1590=)
c.4563C>T (p.Ile1521=)
c.1266C>T (p.Ile422=)
c.1311C>T (p.Ile437=)
c.4767C>T (p.Ile1589=)
c.1091C>T
c.1278C>T (p.Ile426=)
c.*4487C>T (n.*4487C>T)
c.1017C>T (p.Ile339=)
c.5-7259C>T (n.5-7259C>T)
c.177C>T (p.Ile59=)
c.-98-21020C>T (n.-98-21020C>T)
n.4840C>T
n.4881C>T
 ClinVar dbSNP
17g.43071210G>CCA10592103BRCA1c.4701C>G (p.Ile1567Met)
c.4704C>G (p.Ile1568Met)
c.4578C>G (p.Ile1526Met)
c.4698C>G (p.Ile1566Met)
c.4626C>G (p.Ile1542Met)
c.1392C>G (p.Ile464Met)
c.1254C>G (p.Ile418Met)
c.3816C>G (p.Ile1272Met)
c.4581C>G (p.Ile1527Met)
c.4770C>G (p.Ile1590Met)
c.4563C>G (p.Ile1521Met)
c.1266C>G (p.Ile422Met)
c.1311C>G (p.Ile437Met)
c.4767C>G (p.Ile1589Met)
c.1091C>G
c.1278C>G (p.Ile426Met)
c.*4487C>G (n.*4487C>G)
c.1017C>G (p.Ile339Met)
c.5-7259C>G (n.5-7259C>G)
c.177C>G (p.Ile59Met)
c.-98-21020C>G (n.-98-21020C>G)
n.4840C>G
n.4881C>G
 dbSNP
17g.43071210G=CA2260773019BRCA1c.4701C= (p.Ile1567=)
c.4704C= (p.Ile1568=)
c.4578C= (p.Ile1526=)
c.4698C= (p.Ile1566=)
c.4626C= (p.Ile1542=)
c.1392C= (p.Ile464=)
c.1254C= (p.Ile418=)
c.3816C= (p.Ile1272=)
c.4581C= (p.Ile1527=)
c.4770C= (p.Ile1590=)
c.4563C= (p.Ile1521=)
c.1266C= (p.Ile422=)
c.1311C= (p.Ile437=)
c.4767C= (p.Ile1589=)
c.1091C=
c.1278C= (p.Ile426=)
c.*4487C= (n.*4487C=)
c.1017C= (p.Ile339=)
c.5-7259C= (n.5-7259C=)
c.177C= (p.Ile59=)
c.-98-21020C= (n.-98-21020C=)
n.4840C=
n.4881C=
17g.43071210G>TCA500231888BRCA1c.4701C>A (p.Ile1567=)
c.4704C>A (p.Ile1568=)
c.4578C>A (p.Ile1526=)
c.4698C>A (p.Ile1566=)
c.4626C>A (p.Ile1542=)
c.1392C>A (p.Ile464=)
c.1254C>A (p.Ile418=)
c.3816C>A (p.Ile1272=)
c.4581C>A (p.Ile1527=)
c.4770C>A (p.Ile1590=)
c.4563C>A (p.Ile1521=)
c.1266C>A (p.Ile422=)
c.1311C>A (p.Ile437=)
c.4767C>A (p.Ile1589=)
c.1091C>A
c.1278C>A (p.Ile426=)
c.*4487C>A (n.*4487C>A)
c.1017C>A (p.Ile339=)
c.5-7259C>A (n.5-7259C>A)
c.177C>A (p.Ile59=)
c.-98-21020C>A (n.-98-21020C>A)
n.4840C>A
n.4881C>A
17g.43071218_43071224dupCA10585937BRCA1c.4695_4701dup (p.Ser1568TrpfsTer7)
c.4698_4704dup (p.Ser1569TrpfsTer7)
c.4572_4578dup (p.Ser1527TrpfsTer7)
c.4692_4698dup (p.Ser1567TrpfsTer7)
c.4620_4626dup (p.Ser1543TrpfsTer7)
c.1386_1392dup (p.Ser465TrpfsTer7)
c.1248_1254dup (p.Ser419TrpfsTer7)
c.3810_3816dup (p.Ser1273TrpfsTer7)
c.4575_4581dup (p.Ser1528TrpfsTer7)
c.4764_4770dup (p.Ser1591TrpfsTer7)
c.4557_4563dup (p.Ser1522TrpfsTer7)
c.1260_1266dup (p.Ser423TrpfsTer7)
c.1305_1311dup (p.Ser438TrpfsTer7)
c.4761_4767dup (p.Ser1590TrpfsTer7)
c.1085_1091dup
c.1272_1278dup (p.Ser427TrpfsTer7)
c.*4481_*4487dup (n.*4481_*4487dup)
c.1011_1017dup (p.Ser340TrpfsTer7)
c.5-7265_5-7259dup (n.5-7265_5-7259dup)
c.171_177dup (p.Ser60TrpfsTer7)
c.-98-21026_-98-21020dup (n.-98-21026_-98-21020dup)
n.4834_4840dup
n.4875_4881dup
 ClinVar dbSNP
17g.43071211A>CCA10592104BRCA1c.4700T>G (p.Ile1567Ser)
c.4703T>G (p.Ile1568Ser)
c.4577T>G (p.Ile1526Ser)
c.4697T>G (p.Ile1566Ser)
c.4625T>G (p.Ile1542Ser)
c.1391T>G (p.Ile464Ser)
c.1253T>G (p.Ile418Ser)
c.3815T>G (p.Ile1272Ser)
c.4580T>G (p.Ile1527Ser)
c.4769T>G (p.Ile1590Ser)
c.4562T>G (p.Ile1521Ser)
c.1265T>G (p.Ile422Ser)
c.1310T>G (p.Ile437Ser)
c.4766T>G (p.Ile1589Ser)
c.1090T>G
c.1277T>G (p.Ile426Ser)
c.*4486T>G (n.*4486T>G)
c.1016T>G (p.Ile339Ser)
c.5-7260T>G (n.5-7260T>G)
c.176T>G (p.Ile59Ser)
c.-98-21021T>G (n.-98-21021T>G)
n.4839T>G
n.4880T>G
 dbSNP COSMIC
17g.43071211A>GCA10592105BRCA1c.4700T>C (p.Ile1567Thr)
c.4703T>C (p.Ile1568Thr)
c.4577T>C (p.Ile1526Thr)
c.4697T>C (p.Ile1566Thr)
c.4625T>C (p.Ile1542Thr)
c.1391T>C (p.Ile464Thr)
c.1253T>C (p.Ile418Thr)
c.3815T>C (p.Ile1272Thr)
c.4580T>C (p.Ile1527Thr)
c.4769T>C (p.Ile1590Thr)
c.4562T>C (p.Ile1521Thr)
c.1265T>C (p.Ile422Thr)
c.1310T>C (p.Ile437Thr)
c.4766T>C (p.Ile1589Thr)
c.1090T>C
c.1277T>C (p.Ile426Thr)
c.*4486T>C (n.*4486T>C)
c.1016T>C (p.Ile339Thr)
c.5-7260T>C (n.5-7260T>C)
c.176T>C (p.Ile59Thr)
c.-98-21021T>C (n.-98-21021T>C)
n.4839T>C
n.4880T>C
 dbSNP
17g.43071211A>TCA10592106BRCA1c.4700T>A (p.Ile1567Asn)
c.4703T>A (p.Ile1568Asn)
c.4577T>A (p.Ile1526Asn)
c.4697T>A (p.Ile1566Asn)
c.4625T>A (p.Ile1542Asn)
c.1391T>A (p.Ile464Asn)
c.1253T>A (p.Ile418Asn)
c.3815T>A (p.Ile1272Asn)
c.4580T>A (p.Ile1527Asn)
c.4769T>A (p.Ile1590Asn)
c.4562T>A (p.Ile1521Asn)
c.1265T>A (p.Ile422Asn)
c.1310T>A (p.Ile437Asn)
c.4766T>A (p.Ile1589Asn)
c.1090T>A
c.1277T>A (p.Ile426Asn)
c.*4486T>A (n.*4486T>A)
c.1016T>A (p.Ile339Asn)
c.5-7260T>A (n.5-7260T>A)
c.176T>A (p.Ile59Asn)
c.-98-21021T>A (n.-98-21021T>A)
n.4839T>A
n.4880T>A
 dbSNP
17g.43071212T>ACA10592107BRCA1c.4699A>T (p.Ile1567Phe)
c.4702A>T (p.Ile1568Phe)
c.4576A>T (p.Ile1526Phe)
c.4696A>T (p.Ile1566Phe)
c.4624A>T (p.Ile1542Phe)
c.1390A>T (p.Ile464Phe)
c.1252A>T (p.Ile418Phe)
c.3814A>T (p.Ile1272Phe)
c.4579A>T (p.Ile1527Phe)
c.4768A>T (p.Ile1590Phe)
c.4561A>T (p.Ile1521Phe)
c.1264A>T (p.Ile422Phe)
c.1309A>T (p.Ile437Phe)
c.4765A>T (p.Ile1589Phe)
c.1089A>T
c.1276A>T (p.Ile426Phe)
c.*4485A>T (n.*4485A>T)
c.1015A>T (p.Ile339Phe)
c.5-7261A>T (n.5-7261A>T)
c.175A>T (p.Ile59Phe)
c.-98-21022A>T (n.-98-21022A>T)
n.4838A>T
n.4879A>T
17g.43071212T>CCA002984BRCA1c.4699A>G (p.Ile1567Val)
c.4702A>G (p.Ile1568Val)
c.4576A>G (p.Ile1526Val)
c.4696A>G (p.Ile1566Val)
c.4624A>G (p.Ile1542Val)
c.1390A>G (p.Ile464Val)
c.1252A>G (p.Ile418Val)
c.3814A>G (p.Ile1272Val)
c.4579A>G (p.Ile1527Val)
c.4768A>G (p.Ile1590Val)
c.4561A>G (p.Ile1521Val)
c.1264A>G (p.Ile422Val)
c.1309A>G (p.Ile437Val)
c.4765A>G (p.Ile1589Val)
c.1089A>G
c.1276A>G (p.Ile426Val)
c.*4485A>G (n.*4485A>G)
c.1015A>G (p.Ile339Val)
c.5-7261A>G (n.5-7261A>G)
c.175A>G (p.Ile59Val)
c.-98-21022A>G (n.-98-21022A>G)
n.4838A>G
n.4879A>G
 ClinVar dbSNP gnomAD v4
17g.43071212T>GCA10592108BRCA1c.4699A>C (p.Ile1567Leu)
c.4702A>C (p.Ile1568Leu)
c.4576A>C (p.Ile1526Leu)
c.4696A>C (p.Ile1566Leu)
c.4624A>C (p.Ile1542Leu)
c.1390A>C (p.Ile464Leu)
c.1252A>C (p.Ile418Leu)
c.3814A>C (p.Ile1272Leu)
c.4579A>C (p.Ile1527Leu)
c.4768A>C (p.Ile1590Leu)
c.4561A>C (p.Ile1521Leu)
c.1264A>C (p.Ile422Leu)
c.1309A>C (p.Ile437Leu)
c.4765A>C (p.Ile1589Leu)
c.1089A>C
c.1276A>C (p.Ile426Leu)
c.*4485A>C (n.*4485A>C)
c.1015A>C (p.Ile339Leu)
c.5-7261A>C (n.5-7261A>C)
c.175A>C (p.Ile59Leu)
c.-98-21022A>C (n.-98-21022A>C)
n.4838A>C
n.4879A>C
17g.43071212T=CA2260773020BRCA1c.4699A= (p.Ile1567=)
c.4702A= (p.Ile1568=)
c.4576A= (p.Ile1526=)
c.4696A= (p.Ile1566=)
c.4624A= (p.Ile1542=)
c.1390A= (p.Ile464=)
c.1252A= (p.Ile418=)
c.3814A= (p.Ile1272=)
c.4579A= (p.Ile1527=)
c.4768A= (p.Ile1590=)
c.4561A= (p.Ile1521=)
c.1264A= (p.Ile422=)
c.1309A= (p.Ile437=)
c.4765A= (p.Ile1589=)
c.1089A=
c.1276A= (p.Ile426=)
c.*4485A= (n.*4485A=)
c.1015A= (p.Ile339=)
c.5-7261A= (n.5-7261A=)
c.175A= (p.Ile59=)
c.-98-21022A= (n.-98-21022A=)
n.4838A=
n.4879A=
17g.43071213T>ACA500231889BRCA1c.4698A>T (p.Gly1566=)
c.4701A>T (p.Gly1567=)
c.4575A>T (p.Gly1525=)
c.4695A>T (p.Gly1565=)
c.4623A>T (p.Gly1541=)
c.1389A>T (p.Gly463=)
c.1251A>T (p.Gly417=)
c.3813A>T (p.Gly1271=)
c.4578A>T (p.Gly1526=)
c.4767A>T (p.Gly1589=)
c.4560A>T (p.Gly1520=)
c.1263A>T (p.Gly421=)
c.1308A>T (p.Gly436=)
c.4764A>T (p.Gly1588=)
c.1088A>T
c.1275A>T (p.Gly425=)
c.*4484A>T (n.*4484A>T)
c.1014A>T (p.Gly338=)
c.5-7262A>T (n.5-7262A>T)
c.174A>T (p.Gly58=)
c.-98-21023A>T (n.-98-21023A>T)
n.4837A>T
n.4878A>T
17g.43071213T>CCA500231890BRCA1c.4698A>G (p.Gly1566=)
c.4701A>G (p.Gly1567=)
c.4575A>G (p.Gly1525=)
c.4695A>G (p.Gly1565=)
c.4623A>G (p.Gly1541=)
c.1389A>G (p.Gly463=)
c.1251A>G (p.Gly417=)
c.3813A>G (p.Gly1271=)
c.4578A>G (p.Gly1526=)
c.4767A>G (p.Gly1589=)
c.4560A>G (p.Gly1520=)
c.1263A>G (p.Gly421=)
c.1308A>G (p.Gly436=)
c.4764A>G (p.Gly1588=)
c.1088A>G
c.1275A>G (p.Gly425=)
c.*4484A>G (n.*4484A>G)
c.1014A>G (p.Gly338=)
c.5-7262A>G (n.5-7262A>G)
c.174A>G (p.Gly58=)
c.-98-21023A>G (n.-98-21023A>G)
n.4837A>G
n.4878A>G
17g.43071213T>GCA500231891BRCA1c.4698A>C (p.Gly1566=)
c.4701A>C (p.Gly1567=)
c.4575A>C (p.Gly1525=)
c.4695A>C (p.Gly1565=)
c.4623A>C (p.Gly1541=)
c.1389A>C (p.Gly463=)
c.1251A>C (p.Gly417=)
c.3813A>C (p.Gly1271=)
c.4578A>C (p.Gly1526=)
c.4767A>C (p.Gly1589=)
c.4560A>C (p.Gly1520=)
c.1263A>C (p.Gly421=)
c.1308A>C (p.Gly436=)
c.4764A>C (p.Gly1588=)
c.1088A>C
c.1275A>C (p.Gly425=)
c.*4484A>C (n.*4484A>C)
c.1014A>C (p.Gly338=)
c.5-7262A>C (n.5-7262A>C)
c.174A>C (p.Gly58=)
c.-98-21023A>C (n.-98-21023A>C)
n.4837A>C
n.4878A>C
17g.43071213T=CA2260773021BRCA1c.4698A= (p.Gly1566=)
c.4701A= (p.Gly1567=)
c.4575A= (p.Gly1525=)
c.4695A= (p.Gly1565=)
c.4623A= (p.Gly1541=)
c.1389A= (p.Gly463=)
c.1251A= (p.Gly417=)
c.3813A= (p.Gly1271=)
c.4578A= (p.Gly1526=)
c.4767A= (p.Gly1589=)
c.4560A= (p.Gly1520=)
c.1263A= (p.Gly421=)
c.1308A= (p.Gly436=)
c.4764A= (p.Gly1588=)
c.1088A=
c.1275A= (p.Gly425=)
c.*4484A= (n.*4484A=)
c.1014A= (p.Gly338=)
c.5-7262A= (n.5-7262A=)
c.174A= (p.Gly58=)
c.-98-21023A= (n.-98-21023A=)
n.4837A=
n.4878A=
17g.43071214C>ACA10592109BRCA1c.4697G>T (p.Gly1566Val)
c.4700G>T (p.Gly1567Val)
c.4574G>T (p.Gly1525Val)
c.4694G>T (p.Gly1565Val)
c.4622G>T (p.Gly1541Val)
c.1388G>T (p.Gly463Val)
c.1250G>T (p.Gly417Val)
c.3812G>T (p.Gly1271Val)
c.4577G>T (p.Gly1526Val)
c.4766G>T (p.Gly1589Val)
c.4559G>T (p.Gly1520Val)
c.1262G>T (p.Gly421Val)
c.1307G>T (p.Gly436Val)
c.4763G>T (p.Gly1588Val)
c.1087G>T
c.1274G>T (p.Gly425Val)
c.*4483G>T (n.*4483G>T)
c.1013G>T (p.Gly338Val)
c.5-7263G>T (n.5-7263G>T)
c.173G>T (p.Gly58Val)
c.-98-21024G>T (n.-98-21024G>T)
n.4836G>T
n.4877G>T
 ClinVar dbSNP
17g.43071214C=CA2260773022BRCA1c.4697G= (p.Gly1566=)
c.4700G= (p.Gly1567=)
c.4574G= (p.Gly1525=)
c.4694G= (p.Gly1565=)
c.4622G= (p.Gly1541=)
c.1388G= (p.Gly463=)
c.1250G= (p.Gly417=)
c.3812G= (p.Gly1271=)
c.4577G= (p.Gly1526=)
c.4766G= (p.Gly1589=)
c.4559G= (p.Gly1520=)
c.1262G= (p.Gly421=)
c.1307G= (p.Gly436=)
c.4763G= (p.Gly1588=)
c.1087G=
c.1274G= (p.Gly425=)
c.*4483G= (n.*4483G=)
c.1013G= (p.Gly338=)
c.5-7263G= (n.5-7263G=)
c.173G= (p.Gly58=)
c.-98-21024G= (n.-98-21024G=)
n.4836G=
n.4877G=
17g.43071214C>GCA10592110BRCA1c.4697G>C (p.Gly1566Ala)
c.4700G>C (p.Gly1567Ala)
c.4574G>C (p.Gly1525Ala)
c.4694G>C (p.Gly1565Ala)
c.4622G>C (p.Gly1541Ala)
c.1388G>C (p.Gly463Ala)
c.1250G>C (p.Gly417Ala)
c.3812G>C (p.Gly1271Ala)
c.4577G>C (p.Gly1526Ala)
c.4766G>C (p.Gly1589Ala)
c.4559G>C (p.Gly1520Ala)
c.1262G>C (p.Gly421Ala)
c.1307G>C (p.Gly436Ala)
c.4763G>C (p.Gly1588Ala)
c.1087G>C
c.1274G>C (p.Gly425Ala)
c.*4483G>C (n.*4483G>C)
c.1013G>C (p.Gly338Ala)
c.5-7263G>C (n.5-7263G>C)
c.173G>C (p.Gly58Ala)
c.-98-21024G>C (n.-98-21024G>C)
n.4836G>C
n.4877G>C
 ClinVar dbSNP
17g.43071214C>TCA10592111BRCA1c.4697G>A (p.Gly1566Glu)
c.4700G>A (p.Gly1567Glu)
c.4574G>A (p.Gly1525Glu)
c.4694G>A (p.Gly1565Glu)
c.4622G>A (p.Gly1541Glu)
c.1388G>A (p.Gly463Glu)
c.1250G>A (p.Gly417Glu)
c.3812G>A (p.Gly1271Glu)
c.4577G>A (p.Gly1526Glu)
c.4766G>A (p.Gly1589Glu)
c.4559G>A (p.Gly1520Glu)
c.1262G>A (p.Gly421Glu)
c.1307G>A (p.Gly436Glu)
c.4763G>A (p.Gly1588Glu)
c.1087G>A
c.1274G>A (p.Gly425Glu)
c.*4483G>A (n.*4483G>A)
c.1013G>A (p.Gly338Glu)
c.5-7263G>A (n.5-7263G>A)
c.173G>A (p.Gly58Glu)
c.-98-21024G>A (n.-98-21024G>A)
n.4836G>A
n.4877G>A
 ClinVar dbSNP
17g.43071214_43071215dupCA915950116BRCA1c.4696_4697dup (p.Ile1567GlufsTer?)
c.4699_4700dup (p.Ile1568GlufsTer?)
c.4573_4574dup (p.Ile1526GlufsTer?)
c.4693_4694dup (p.Ile1566GlufsTer?)
c.4621_4622dup (p.Ile1542GlufsTer?)
c.1387_1388dup (p.Ile464GlufsTer?)
c.1249_1250dup (p.Ile418GlufsTer?)
c.3811_3812dup (p.Ile1272GlufsTer?)
c.4576_4577dup (p.Ile1527GlufsTer?)
c.4765_4766dup (p.Ile1590GlufsTer?)
c.4558_4559dup (p.Ile1521GlufsTer?)
c.1261_1262dup (p.Ile422GlufsTer?)
c.1306_1307dup (p.Ile437GlufsTer?)
c.4762_4763dup (p.Ile1589GlufsTer?)
c.1086_1087dup
c.1273_1274dup (p.Ile426GlufsTer?)
c.*4482_*4483dup (n.*4482_*4483dup)
c.1012_1013dup (p.Ile339GlufsTer?)
c.5-7264_5-7263dup (n.5-7264_5-7263dup)
c.172_173dup (p.Ile59GlufsTer?)
c.-98-21025_-98-21024dup (n.-98-21025_-98-21024dup)
n.4835_4836dup
n.4876_4877dup
 ClinVar dbSNP
17g.43071215C>ACA10592112BRCA1c.4696G>T (p.Gly1566Ter)
c.4699G>T (p.Gly1567Ter)
c.4573G>T (p.Gly1525Ter)
c.4693G>T (p.Gly1565Ter)
c.4621G>T (p.Gly1541Ter)
c.1387G>T (p.Gly463Ter)
c.1249G>T (p.Gly417Ter)
c.3811G>T (p.Gly1271Ter)
c.4576G>T (p.Gly1526Ter)
c.4765G>T (p.Gly1589Ter)
c.4558G>T (p.Gly1520Ter)
c.1261G>T (p.Gly421Ter)
c.1306G>T (p.Gly436Ter)
c.4762G>T (p.Gly1588Ter)
c.1086G>T
c.1273G>T (p.Gly425Ter)
c.*4482G>T (n.*4482G>T)
c.1012G>T (p.Gly338Ter)
c.5-7264G>T (n.5-7264G>T)
c.172G>T (p.Gly58Ter)
c.-98-21025G>T (n.-98-21025G>T)
n.4835G>T
n.4876G>T
 ClinVar dbSNP
17g.43071215C=CA2260773023BRCA1c.4696G= (p.Gly1566=)
c.4699G= (p.Gly1567=)
c.4573G= (p.Gly1525=)
c.4693G= (p.Gly1565=)
c.4621G= (p.Gly1541=)
c.1387G= (p.Gly463=)
c.1249G= (p.Gly417=)
c.3811G= (p.Gly1271=)
c.4576G= (p.Gly1526=)
c.4765G= (p.Gly1589=)
c.4558G= (p.Gly1520=)
c.1261G= (p.Gly421=)
c.1306G= (p.Gly436=)
c.4762G= (p.Gly1588=)
c.1086G=
c.1273G= (p.Gly425=)
c.*4482G= (n.*4482G=)
c.1012G= (p.Gly338=)
c.5-7264G= (n.5-7264G=)
c.172G= (p.Gly58=)
c.-98-21025G= (n.-98-21025G=)
n.4835G=
n.4876G=
17g.43071215C>GCA10592113BRCA1c.4696G>C (p.Gly1566Arg)
c.4699G>C (p.Gly1567Arg)
c.4573G>C (p.Gly1525Arg)
c.4693G>C (p.Gly1565Arg)
c.4621G>C (p.Gly1541Arg)
c.1387G>C (p.Gly463Arg)
c.1249G>C (p.Gly417Arg)
c.3811G>C (p.Gly1271Arg)
c.4576G>C (p.Gly1526Arg)
c.4765G>C (p.Gly1589Arg)
c.4558G>C (p.Gly1520Arg)
c.1261G>C (p.Gly421Arg)
c.1306G>C (p.Gly436Arg)
c.4762G>C (p.Gly1588Arg)
c.1086G>C
c.1273G>C (p.Gly425Arg)
c.*4482G>C (n.*4482G>C)
c.1012G>C (p.Gly338Arg)
c.5-7264G>C (n.5-7264G>C)
c.172G>C (p.Gly58Arg)
c.-98-21025G>C (n.-98-21025G>C)
n.4835G>C
n.4876G>C
 dbSNP
17g.43071215C>TCA10592114BRCA1c.4696G>A (p.Gly1566Arg)
c.4699G>A (p.Gly1567Arg)
c.4573G>A (p.Gly1525Arg)
c.4693G>A (p.Gly1565Arg)
c.4621G>A (p.Gly1541Arg)
c.1387G>A (p.Gly463Arg)
c.1249G>A (p.Gly417Arg)
c.3811G>A (p.Gly1271Arg)
c.4576G>A (p.Gly1526Arg)
c.4765G>A (p.Gly1589Arg)
c.4558G>A (p.Gly1520Arg)
c.1261G>A (p.Gly421Arg)
c.1306G>A (p.Gly436Arg)
c.4762G>A (p.Gly1588Arg)
c.1086G>A
c.1273G>A (p.Gly425Arg)
c.*4482G>A (n.*4482G>A)
c.1012G>A (p.Gly338Arg)
c.5-7264G>A (n.5-7264G>A)
c.172G>A (p.Gly58Arg)
c.-98-21025G>A (n.-98-21025G>A)
n.4835G>A
n.4876G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43071216A=CA2260773024BRCA1c.4695T= (p.Ser1565=)
c.4698T= (p.Ser1566=)
c.4572T= (p.Ser1524=)
c.4692T= (p.Ser1564=)
c.4620T= (p.Ser1540=)
c.1386T= (p.Ser462=)
c.1248T= (p.Ser416=)
c.3810T= (p.Ser1270=)
c.4575T= (p.Ser1525=)
c.4764T= (p.Ser1588=)
c.4557T= (p.Ser1519=)
c.1260T= (p.Ser420=)
c.1305T= (p.Ser435=)
c.4761T= (p.Ser1587=)
c.1085T=
c.1272T= (p.Ser424=)
c.*4481T= (n.*4481T=)
c.1011T= (p.Ser337=)
c.5-7265T= (n.5-7265T=)
c.171T= (p.Ser57=)
c.-98-21026T= (n.-98-21026T=)
n.4834T=
n.4875T=
17g.43071216A>CCA500231892BRCA1c.4695T>G (p.Ser1565=)
c.4698T>G (p.Ser1566=)
c.4572T>G (p.Ser1524=)
c.4692T>G (p.Ser1564=)
c.4620T>G (p.Ser1540=)
c.1386T>G (p.Ser462=)
c.1248T>G (p.Ser416=)
c.3810T>G (p.Ser1270=)
c.4575T>G (p.Ser1525=)
c.4764T>G (p.Ser1588=)
c.4557T>G (p.Ser1519=)
c.1260T>G (p.Ser420=)
c.1305T>G (p.Ser435=)
c.4761T>G (p.Ser1587=)
c.1085T>G
c.1272T>G (p.Ser424=)
c.*4481T>G (n.*4481T>G)
c.1011T>G (p.Ser337=)
c.5-7265T>G (n.5-7265T>G)
c.171T>G (p.Ser57=)
c.-98-21026T>G (n.-98-21026T>G)
n.4834T>G
n.4875T>G
 ClinVar dbSNP
17g.43071216A>GCA500231893BRCA1c.4695T>C (p.Ser1565=)
c.4698T>C (p.Ser1566=)
c.4572T>C (p.Ser1524=)
c.4692T>C (p.Ser1564=)
c.4620T>C (p.Ser1540=)
c.1386T>C (p.Ser462=)
c.1248T>C (p.Ser416=)
c.3810T>C (p.Ser1270=)
c.4575T>C (p.Ser1525=)
c.4764T>C (p.Ser1588=)
c.4557T>C (p.Ser1519=)
c.1260T>C (p.Ser420=)
c.1305T>C (p.Ser435=)
c.4761T>C (p.Ser1587=)
c.1085T>C
c.1272T>C (p.Ser424=)
c.*4481T>C (n.*4481T>C)
c.1011T>C (p.Ser337=)
c.5-7265T>C (n.5-7265T>C)
c.171T>C (p.Ser57=)
c.-98-21026T>C (n.-98-21026T>C)
n.4834T>C
n.4875T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43071216A>TCA500231894BRCA1c.4695T>A (p.Ser1565=)
c.4698T>A (p.Ser1566=)
c.4572T>A (p.Ser1524=)
c.4692T>A (p.Ser1564=)
c.4620T>A (p.Ser1540=)
c.1386T>A (p.Ser462=)
c.1248T>A (p.Ser416=)
c.3810T>A (p.Ser1270=)
c.4575T>A (p.Ser1525=)
c.4764T>A (p.Ser1588=)
c.4557T>A (p.Ser1519=)
c.1260T>A (p.Ser420=)
c.1305T>A (p.Ser435=)
c.4761T>A (p.Ser1587=)
c.1085T>A
c.1272T>A (p.Ser424=)
c.*4481T>A (n.*4481T>A)
c.1011T>A (p.Ser337=)
c.5-7265T>A (n.5-7265T>A)
c.171T>A (p.Ser57=)
c.-98-21026T>A (n.-98-21026T>A)
n.4834T>A
n.4875T>A
17g.43071216_43071217insTCA658825009BRCA1c.4694_4695insA (p.Gly1566TrpfsTer7)
c.4697_4698insA (p.Gly1567TrpfsTer7)
c.4571_4572insA (p.Gly1525TrpfsTer7)
c.4691_4692insA (p.Gly1565TrpfsTer7)
c.4619_4620insA (p.Gly1541TrpfsTer7)
c.1385_1386insA (p.Gly463TrpfsTer7)
c.1247_1248insA (p.Gly417TrpfsTer7)
c.3809_3810insA (p.Gly1271TrpfsTer7)
c.4574_4575insA (p.Gly1526TrpfsTer7)
c.4763_4764insA (p.Gly1589TrpfsTer7)
c.4556_4557insA (p.Gly1520TrpfsTer7)
c.1259_1260insA (p.Gly421TrpfsTer7)
c.1304_1305insA (p.Gly436TrpfsTer7)
c.4760_4761insA (p.Gly1588TrpfsTer7)
c.1084_1085insA
c.1271_1272insA (p.Gly425TrpfsTer7)
c.*4480_*4481insA (n.*4480_*4481insA)
c.1010_1011insA (p.Gly338TrpfsTer7)
c.5-7266_5-7265insA (n.5-7266_5-7265insA)
c.170_171insA (p.Gly58TrpfsTer7)
c.-98-21027_-98-21026insA (n.-98-21027_-98-21026insA)
n.4833_4834insA
n.4874_4875insA
 ClinVar dbSNP
17g.43071217G>ACA10592115BRCA1c.4694C>T (p.Ser1565Phe)
c.4697C>T (p.Ser1566Phe)
c.4571C>T (p.Ser1524Phe)
c.4691C>T (p.Ser1564Phe)
c.4619C>T (p.Ser1540Phe)
c.1385C>T (p.Ser462Phe)
c.1247C>T (p.Ser416Phe)
c.3809C>T (p.Ser1270Phe)
c.4574C>T (p.Ser1525Phe)
c.4763C>T (p.Ser1588Phe)
c.4556C>T (p.Ser1519Phe)
c.1259C>T (p.Ser420Phe)
c.1304C>T (p.Ser435Phe)
c.4760C>T (p.Ser1587Phe)
c.1084C>T
c.1271C>T (p.Ser424Phe)
c.*4480C>T (n.*4480C>T)
c.1010C>T (p.Ser337Phe)
c.5-7266C>T (n.5-7266C>T)
c.170C>T (p.Ser57Phe)
c.-98-21027C>T (n.-98-21027C>T)
n.4833C>T
n.4874C>T
 dbSNP
17g.43071217G>CCA10592116BRCA1c.4694C>G (p.Ser1565Cys)
c.4697C>G (p.Ser1566Cys)
c.4571C>G (p.Ser1524Cys)
c.4691C>G (p.Ser1564Cys)
c.4619C>G (p.Ser1540Cys)
c.1385C>G (p.Ser462Cys)
c.1247C>G (p.Ser416Cys)
c.3809C>G (p.Ser1270Cys)
c.4574C>G (p.Ser1525Cys)
c.4763C>G (p.Ser1588Cys)
c.4556C>G (p.Ser1519Cys)
c.1259C>G (p.Ser420Cys)
c.1304C>G (p.Ser435Cys)
c.4760C>G (p.Ser1587Cys)
c.1084C>G
c.1271C>G (p.Ser424Cys)
c.*4480C>G (n.*4480C>G)
c.1010C>G (p.Ser337Cys)
c.5-7266C>G (n.5-7266C>G)
c.170C>G (p.Ser57Cys)
c.-98-21027C>G (n.-98-21027C>G)
n.4833C>G
n.4874C>G
 ClinVar dbSNP
17g.43071217G=CA2260773025BRCA1c.4694C= (p.Ser1565=)
c.4697C= (p.Ser1566=)
c.4571C= (p.Ser1524=)
c.4691C= (p.Ser1564=)
c.4619C= (p.Ser1540=)
c.1385C= (p.Ser462=)
c.1247C= (p.Ser416=)
c.3809C= (p.Ser1270=)
c.4574C= (p.Ser1525=)
c.4763C= (p.Ser1588=)
c.4556C= (p.Ser1519=)
c.1259C= (p.Ser420=)
c.1304C= (p.Ser435=)
c.4760C= (p.Ser1587=)
c.1084C=
c.1271C= (p.Ser424=)
c.*4480C= (n.*4480C=)
c.1010C= (p.Ser337=)
c.5-7266C= (n.5-7266C=)
c.170C= (p.Ser57=)
c.-98-21027C= (n.-98-21027C=)
n.4833C=
n.4874C=
17g.43071217G>TCA10592117BRCA1c.4694C>A (p.Ser1565Tyr)
c.4697C>A (p.Ser1566Tyr)
c.4571C>A (p.Ser1524Tyr)
c.4691C>A (p.Ser1564Tyr)
c.4619C>A (p.Ser1540Tyr)
c.1385C>A (p.Ser462Tyr)
c.1247C>A (p.Ser416Tyr)
c.3809C>A (p.Ser1270Tyr)
c.4574C>A (p.Ser1525Tyr)
c.4763C>A (p.Ser1588Tyr)
c.4556C>A (p.Ser1519Tyr)
c.1259C>A (p.Ser420Tyr)
c.1304C>A (p.Ser435Tyr)
c.4760C>A (p.Ser1587Tyr)
c.1084C>A
c.1271C>A (p.Ser424Tyr)
c.*4480C>A (n.*4480C>A)
c.1010C>A (p.Ser337Tyr)
c.5-7266C>A (n.5-7266C>A)
c.170C>A (p.Ser57Tyr)
c.-98-21027C>A (n.-98-21027C>A)
n.4833C>A
n.4874C>A
 ClinVar dbSNP gnomAD v4
17g.43071217_43071218insTCA002981BRCA1c.4693_4694insA (p.Ser1565TyrfsTer8)
c.4696_4697insA (p.Ser1566TyrfsTer8)
c.4570_4571insA (p.Ser1524TyrfsTer8)
c.4690_4691insA (p.Ser1564TyrfsTer8)
c.4618_4619insA (p.Ser1540TyrfsTer8)
c.1384_1385insA (p.Ser462TyrfsTer8)
c.1246_1247insA (p.Ser416TyrfsTer8)
c.3808_3809insA (p.Ser1270TyrfsTer8)
c.4573_4574insA (p.Ser1525TyrfsTer8)
c.4762_4763insA (p.Ser1588TyrfsTer8)
c.4555_4556insA (p.Ser1519TyrfsTer8)
c.1258_1259insA (p.Ser420TyrfsTer8)
c.1303_1304insA (p.Ser435TyrfsTer8)
c.4759_4760insA (p.Ser1587TyrfsTer8)
c.1083_1084insA
c.1270_1271insA (p.Ser424TyrfsTer8)
c.*4479_*4480insA (n.*4479_*4480insA)
c.1009_1010insA (p.Ser337TyrfsTer8)
c.5-7267_5-7266insA (n.5-7267_5-7266insA)
c.169_170insA (p.Ser57TyrfsTer8)
c.-98-21028_-98-21027insA (n.-98-21028_-98-21027insA)
n.4832_4833insA
n.4873_4874insA
 ClinVar dbSNP
17g.43071218A=CA2260773026BRCA1c.4693T= (p.Ser1565=)
c.4696T= (p.Ser1566=)
c.4570T= (p.Ser1524=)
c.4690T= (p.Ser1564=)
c.4618T= (p.Ser1540=)
c.1384T= (p.Ser462=)
c.1246T= (p.Ser416=)
c.3808T= (p.Ser1270=)
c.4573T= (p.Ser1525=)
c.4762T= (p.Ser1588=)
c.4555T= (p.Ser1519=)
c.1258T= (p.Ser420=)
c.1303T= (p.Ser435=)
c.4759T= (p.Ser1587=)
c.1083T=
c.1270T= (p.Ser424=)
c.*4479T= (n.*4479T=)
c.1009T= (p.Ser337=)
c.5-7267T= (n.5-7267T=)
c.169T= (p.Ser57=)
c.-98-21028T= (n.-98-21028T=)
n.4832T=
n.4873T=
17g.43071218A>CCA002982BRCA1c.4693T>G (p.Ser1565Ala)
c.4696T>G (p.Ser1566Ala)
c.4570T>G (p.Ser1524Ala)
c.4690T>G (p.Ser1564Ala)
c.4618T>G (p.Ser1540Ala)
c.1384T>G (p.Ser462Ala)
c.1246T>G (p.Ser416Ala)
c.3808T>G (p.Ser1270Ala)
c.4573T>G (p.Ser1525Ala)
c.4762T>G (p.Ser1588Ala)
c.4555T>G (p.Ser1519Ala)
c.1258T>G (p.Ser420Ala)
c.1303T>G (p.Ser435Ala)
c.4759T>G (p.Ser1587Ala)
c.1083T>G
c.1270T>G (p.Ser424Ala)
c.*4479T>G (n.*4479T>G)
c.1009T>G (p.Ser337Ala)
c.5-7267T>G (n.5-7267T>G)
c.169T>G (p.Ser57Ala)
c.-98-21028T>G (n.-98-21028T>G)
n.4832T>G
n.4873T>G
 ClinVar dbSNP
17g.43071218A>GCA10592118BRCA1c.4693T>C (p.Ser1565Pro)
c.4696T>C (p.Ser1566Pro)
c.4570T>C (p.Ser1524Pro)
c.4690T>C (p.Ser1564Pro)
c.4618T>C (p.Ser1540Pro)
c.1384T>C (p.Ser462Pro)
c.1246T>C (p.Ser416Pro)
c.3808T>C (p.Ser1270Pro)
c.4573T>C (p.Ser1525Pro)
c.4762T>C (p.Ser1588Pro)
c.4555T>C (p.Ser1519Pro)
c.1258T>C (p.Ser420Pro)
c.1303T>C (p.Ser435Pro)
c.4759T>C (p.Ser1587Pro)
c.1083T>C
c.1270T>C (p.Ser424Pro)
c.*4479T>C (n.*4479T>C)
c.1009T>C (p.Ser337Pro)
c.5-7267T>C (n.5-7267T>C)
c.169T>C (p.Ser57Pro)
c.-98-21028T>C (n.-98-21028T>C)
n.4832T>C
n.4873T>C
 dbSNP
17g.43071218A>TCA10592119BRCA1c.4693T>A (p.Ser1565Thr)
c.4696T>A (p.Ser1566Thr)
c.4570T>A (p.Ser1524Thr)
c.4690T>A (p.Ser1564Thr)
c.4618T>A (p.Ser1540Thr)
c.1384T>A (p.Ser462Thr)
c.1246T>A (p.Ser416Thr)
c.3808T>A (p.Ser1270Thr)
c.4573T>A (p.Ser1525Thr)
c.4762T>A (p.Ser1588Thr)
c.4555T>A (p.Ser1519Thr)
c.1258T>A (p.Ser420Thr)
c.1303T>A (p.Ser435Thr)
c.4759T>A (p.Ser1587Thr)
c.1083T>A
c.1270T>A (p.Ser424Thr)
c.*4479T>A (n.*4479T>A)
c.1009T>A (p.Ser337Thr)
c.5-7267T>A (n.5-7267T>A)
c.169T>A (p.Ser57Thr)
c.-98-21028T>A (n.-98-21028T>A)
n.4832T>A
n.4873T>A
 dbSNP
17g.43071219T>ACA10592120BRCA1c.4692A>T (p.Glu1564Asp)
c.4695A>T (p.Glu1565Asp)
c.4569A>T (p.Glu1523Asp)
c.4689A>T (p.Glu1563Asp)
c.4617A>T (p.Glu1539Asp)
c.1383A>T (p.Glu461Asp)
c.1245A>T (p.Glu415Asp)
c.3807A>T (p.Glu1269Asp)
c.4572A>T (p.Glu1524Asp)
c.4761A>T (p.Glu1587Asp)
c.4554A>T (p.Glu1518Asp)
c.1257A>T (p.Glu419Asp)
c.1302A>T (p.Glu434Asp)
c.4758A>T (p.Glu1586Asp)
c.1082A>T
c.1269A>T (p.Glu423Asp)
c.*4478A>T (n.*4478A>T)
c.1008A>T (p.Glu336Asp)
c.5-7268A>T (n.5-7268A>T)
c.168A>T (p.Glu56Asp)
c.-98-21029A>T (n.-98-21029A>T)
n.4831A>T
n.4872A>T
 dbSNP
17g.43071219T>CCA500231895BRCA1c.4692A>G (p.Glu1564=)
c.4695A>G (p.Glu1565=)
c.4569A>G (p.Glu1523=)
c.4689A>G (p.Glu1563=)
c.4617A>G (p.Glu1539=)
c.1383A>G (p.Glu461=)
c.1245A>G (p.Glu415=)
c.3807A>G (p.Glu1269=)
c.4572A>G (p.Glu1524=)
c.4761A>G (p.Glu1587=)
c.4554A>G (p.Glu1518=)
c.1257A>G (p.Glu419=)
c.1302A>G (p.Glu434=)
c.4758A>G (p.Glu1586=)
c.1082A>G
c.1269A>G (p.Glu423=)
c.*4478A>G (n.*4478A>G)
c.1008A>G (p.Glu336=)
c.5-7268A>G (n.5-7268A>G)
c.168A>G (p.Glu56=)
c.-98-21029A>G (n.-98-21029A>G)
n.4831A>G
n.4872A>G
 ClinVar dbSNP
17g.43071219T>GCA10592121BRCA1c.4692A>C (p.Glu1564Asp)
c.4695A>C (p.Glu1565Asp)
c.4569A>C (p.Glu1523Asp)
c.4689A>C (p.Glu1563Asp)
c.4617A>C (p.Glu1539Asp)
c.1383A>C (p.Glu461Asp)
c.1245A>C (p.Glu415Asp)
c.3807A>C (p.Glu1269Asp)
c.4572A>C (p.Glu1524Asp)
c.4761A>C (p.Glu1587Asp)
c.4554A>C (p.Glu1518Asp)
c.1257A>C (p.Glu419Asp)
c.1302A>C (p.Glu434Asp)
c.4758A>C (p.Glu1586Asp)
c.1082A>C
c.1269A>C (p.Glu423Asp)
c.*4478A>C (n.*4478A>C)
c.1008A>C (p.Glu336Asp)
c.5-7268A>C (n.5-7268A>C)
c.168A>C (p.Glu56Asp)
c.-98-21029A>C (n.-98-21029A>C)
n.4831A>C
n.4872A>C
 dbSNP
17g.43071220dupCA327938BRCA1c.4692dup (p.Ser1565IlefsTer8)
c.4695dup (p.Ser1566IlefsTer8)
c.4569dup (p.Ser1524IlefsTer8)
c.4689dup (p.Ser1564IlefsTer8)
c.4617dup (p.Ser1540IlefsTer8)
c.1383dup (p.Ser462IlefsTer8)
c.1245dup (p.Ser416IlefsTer8)
c.3807dup (p.Ser1270IlefsTer8)
c.4572dup (p.Ser1525IlefsTer8)
c.4761dup (p.Ser1588IlefsTer8)
c.4554dup (p.Ser1519IlefsTer8)
c.1257dup (p.Ser420IlefsTer8)
c.1302dup (p.Ser435IlefsTer8)
c.4758dup (p.Ser1587IlefsTer8)
c.1082dup
c.1269dup (p.Ser424IlefsTer8)
c.*4478dup (n.*4478dup)
c.1008dup (p.Ser337IlefsTer8)
c.5-7268dup (n.5-7268dup)
c.168dup (p.Ser57IlefsTer8)
c.-98-21029dup (n.-98-21029dup)
n.4831dup
n.4872dup
 ClinVar dbSNP
17g.43071219_43071226delinsTTCCAGGTCA2260773027BRCA1c.4685_4692delinsACCTGGAA (p.Tyr1562=)
c.4688_4695delinsACCTGGAA (p.Tyr1563=)
c.4562_4569delinsACCTGGAA (p.Tyr1521=)
c.4682_4689delinsACCTGGAA (p.Tyr1561=)
c.4610_4617delinsACCTGGAA (p.Tyr1537=)
c.1376_1383delinsACCTGGAA (p.Tyr459=)
c.1238_1245delinsACCTGGAA (p.Tyr413=)
c.3800_3807delinsACCTGGAA (p.Tyr1267=)
c.4565_4572delinsACCTGGAA (p.Tyr1522=)
c.4754_4761delinsACCTGGAA (p.Tyr1585=)
c.4547_4554delinsACCTGGAA (p.Tyr1516=)
c.1250_1257delinsACCTGGAA (p.Tyr417=)
c.1295_1302delinsACCTGGAA (p.Tyr432=)
c.4751_4758delinsACCTGGAA (p.Tyr1584=)
c.1075_1082delinsACCTGGAA
c.1262_1269delinsACCTGGAA (p.Tyr421=)
c.*4471_*4478delinsACCTGGAA (n.*4471_*4478delinsACCTGGAA)
c.1001_1008delinsACCTGGAA (p.Tyr334=)
c.5-7275_5-7268delinsACCTGGAA (n.5-7275_5-7268delinsACCTGGAA)
c.161_168delinsACCTGGAA (p.Tyr54=)
c.-98-21036_-98-21029delinsACCTGGAA (n.-98-21036_-98-21029delinsACCTGGAA)
n.4824_4831delinsACCTGGAA
n.4865_4872delinsACCTGGAA
17g.43071220T>ACA10592122BRCA1c.4691A>T (p.Glu1564Val)
c.4694A>T (p.Glu1565Val)
c.4568A>T (p.Glu1523Val)
c.4688A>T (p.Glu1563Val)
c.4616A>T (p.Glu1539Val)
c.1382A>T (p.Glu461Val)
c.1244A>T (p.Glu415Val)
c.3806A>T (p.Glu1269Val)
c.4571A>T (p.Glu1524Val)
c.4760A>T (p.Glu1587Val)
c.4553A>T (p.Glu1518Val)
c.1256A>T (p.Glu419Val)
c.1301A>T (p.Glu434Val)
c.4757A>T (p.Glu1586Val)
c.1081A>T
c.1268A>T (p.Glu423Val)
c.*4477A>T (n.*4477A>T)
c.1007A>T (p.Glu336Val)
c.5-7269A>T (n.5-7269A>T)
c.167A>T (p.Glu56Val)
c.-98-21030A>T (n.-98-21030A>T)
n.4830A>T
n.4871A>T
17g.43071220T>CCA10592123BRCA1c.4691A>G (p.Glu1564Gly)
c.4694A>G (p.Glu1565Gly)
c.4568A>G (p.Glu1523Gly)
c.4688A>G (p.Glu1563Gly)
c.4616A>G (p.Glu1539Gly)
c.1382A>G (p.Glu461Gly)
c.1244A>G (p.Glu415Gly)
c.3806A>G (p.Glu1269Gly)
c.4571A>G (p.Glu1524Gly)
c.4760A>G (p.Glu1587Gly)
c.4553A>G (p.Glu1518Gly)
c.1256A>G (p.Glu419Gly)
c.1301A>G (p.Glu434Gly)
c.4757A>G (p.Glu1586Gly)
c.1081A>G
c.1268A>G (p.Glu423Gly)
c.*4477A>G (n.*4477A>G)
c.1007A>G (p.Glu336Gly)
c.5-7269A>G (n.5-7269A>G)
c.167A>G (p.Glu56Gly)
c.-98-21030A>G (n.-98-21030A>G)
n.4830A>G
n.4871A>G
17g.43071220T>GCA10592124BRCA1c.4691A>C (p.Glu1564Ala)
c.4694A>C (p.Glu1565Ala)
c.4568A>C (p.Glu1523Ala)
c.4688A>C (p.Glu1563Ala)
c.4616A>C (p.Glu1539Ala)
c.1382A>C (p.Glu461Ala)
c.1244A>C (p.Glu415Ala)
c.3806A>C (p.Glu1269Ala)
c.4571A>C (p.Glu1524Ala)
c.4760A>C (p.Glu1587Ala)
c.4553A>C (p.Glu1518Ala)
c.1256A>C (p.Glu419Ala)
c.1301A>C (p.Glu434Ala)
c.4757A>C (p.Glu1586Ala)
c.1081A>C
c.1268A>C (p.Glu423Ala)
c.*4477A>C (n.*4477A>C)
c.1007A>C (p.Glu336Ala)
c.5-7269A>C (n.5-7269A>C)
c.167A>C (p.Glu56Ala)
c.-98-21030A>C (n.-98-21030A>C)
n.4830A>C
n.4871A>C
17g.43071220_43071226delinsCCA658684117BRCA1c.4685_4691delinsG (p.Tyr1562Ter)
c.4688_4694delinsG (p.Tyr1563Ter)
c.4562_4568delinsG (p.Tyr1521Ter)
c.4682_4688delinsG (p.Tyr1561Ter)
c.4610_4616delinsG (p.Tyr1537Ter)
c.1376_1382delinsG (p.Tyr459Ter)
c.1238_1244delinsG (p.Tyr413Ter)
c.3800_3806delinsG (p.Tyr1267Ter)
c.4565_4571delinsG (p.Tyr1522Ter)
c.4754_4760delinsG (p.Tyr1585Ter)
c.4547_4553delinsG (p.Tyr1516Ter)
c.1250_1256delinsG (p.Tyr417Ter)
c.1295_1301delinsG (p.Tyr432Ter)
c.4751_4757delinsG (p.Tyr1584Ter)
c.1075_1081delinsG
c.1262_1268delinsG (p.Tyr421Ter)
c.*4471_*4477delinsG (n.*4471_*4477delinsG)
c.1001_1007delinsG (p.Tyr334Ter)
c.5-7275_5-7269delinsG (n.5-7275_5-7269delinsG)
c.161_167delinsG (p.Tyr54Ter)
c.-98-21036_-98-21030delinsG (n.-98-21036_-98-21030delinsG)
n.4824_4830delinsG
n.4865_4871delinsG
 ClinVar dbSNP
17g.43071221C>ACA10592125BRCA1c.4690G>T (p.Glu1564Ter)
c.4693G>T (p.Glu1565Ter)
c.4567G>T (p.Glu1523Ter)
c.4687G>T (p.Glu1563Ter)
c.4615G>T (p.Glu1539Ter)
c.1381G>T (p.Glu461Ter)
c.1243G>T (p.Glu415Ter)
c.3805G>T (p.Glu1269Ter)
c.4570G>T (p.Glu1524Ter)
c.4759G>T (p.Glu1587Ter)
c.4552G>T (p.Glu1518Ter)
c.1255G>T (p.Glu419Ter)
c.1300G>T (p.Glu434Ter)
c.4756G>T (p.Glu1586Ter)
c.1080G>T
c.1267G>T (p.Glu423Ter)
c.*4476G>T (n.*4476G>T)
c.1006G>T (p.Glu336Ter)
c.5-7270G>T (n.5-7270G>T)
c.166G>T (p.Glu56Ter)
c.-98-21031G>T (n.-98-21031G>T)
n.4829G>T
n.4870G>T
 dbSNP
17g.43071221C=CA2260773028BRCA1c.4690G= (p.Glu1564=)
c.4693G= (p.Glu1565=)
c.4567G= (p.Glu1523=)
c.4687G= (p.Glu1563=)
c.4615G= (p.Glu1539=)
c.1381G= (p.Glu461=)
c.1243G= (p.Glu415=)
c.3805G= (p.Glu1269=)
c.4570G= (p.Glu1524=)
c.4759G= (p.Glu1587=)
c.4552G= (p.Glu1518=)
c.1255G= (p.Glu419=)
c.1300G= (p.Glu434=)
c.4756G= (p.Glu1586=)
c.1080G=
c.1267G= (p.Glu423=)
c.*4476G= (n.*4476G=)
c.1006G= (p.Glu336=)
c.5-7270G= (n.5-7270G=)
c.166G= (p.Glu56=)
c.-98-21031G= (n.-98-21031G=)
n.4829G=
n.4870G=
17g.43071221C>GCA10592126BRCA1c.4690G>C (p.Glu1564Gln)
c.4693G>C (p.Glu1565Gln)
c.4567G>C (p.Glu1523Gln)
c.4687G>C (p.Glu1563Gln)
c.4615G>C (p.Glu1539Gln)
c.1381G>C (p.Glu461Gln)
c.1243G>C (p.Glu415Gln)
c.3805G>C (p.Glu1269Gln)
c.4570G>C (p.Glu1524Gln)
c.4759G>C (p.Glu1587Gln)
c.4552G>C (p.Glu1518Gln)
c.1255G>C (p.Glu419Gln)
c.1300G>C (p.Glu434Gln)
c.4756G>C (p.Glu1586Gln)
c.1080G>C
c.1267G>C (p.Glu423Gln)
c.*4476G>C (n.*4476G>C)
c.1006G>C (p.Glu336Gln)
c.5-7270G>C (n.5-7270G>C)
c.166G>C (p.Glu56Gln)
c.-98-21031G>C (n.-98-21031G>C)
n.4829G>C
n.4870G>C
 ClinVar dbSNP
17g.43071221C>TCA338907BRCA1c.4690G>A (p.Glu1564Lys)
c.4693G>A (p.Glu1565Lys)
c.4567G>A (p.Glu1523Lys)
c.4687G>A (p.Glu1563Lys)
c.4615G>A (p.Glu1539Lys)
c.1381G>A (p.Glu461Lys)
c.1243G>A (p.Glu415Lys)
c.3805G>A (p.Glu1269Lys)
c.4570G>A (p.Glu1524Lys)
c.4759G>A (p.Glu1587Lys)
c.4552G>A (p.Glu1518Lys)
c.1255G>A (p.Glu419Lys)
c.1300G>A (p.Glu434Lys)
c.4756G>A (p.Glu1586Lys)
c.1080G>A
c.1267G>A (p.Glu423Lys)
c.*4476G>A (n.*4476G>A)
c.1006G>A (p.Glu336Lys)
c.5-7270G>A (n.5-7270G>A)
c.166G>A (p.Glu56Lys)
c.-98-21031G>A (n.-98-21031G>A)
n.4829G>A
n.4870G>A
 ClinVar dbSNP
17g.43071222C>ACA500231896BRCA1c.4689G>T (p.Leu1563=)
c.4692G>T (p.Leu1564=)
c.4566G>T (p.Leu1522=)
c.4686G>T (p.Leu1562=)
c.4614G>T (p.Leu1538=)
c.1380G>T (p.Leu460=)
c.1242G>T (p.Leu414=)
c.3804G>T (p.Leu1268=)
c.4569G>T (p.Leu1523=)
c.4758G>T (p.Leu1586=)
c.4551G>T (p.Leu1517=)
c.1254G>T (p.Leu418=)
c.1299G>T (p.Leu433=)
c.4755G>T (p.Leu1585=)
c.1079G>T
c.1266G>T (p.Leu422=)
c.*4475G>T (n.*4475G>T)
c.1005G>T (p.Leu335=)
c.5-7271G>T (n.5-7271G>T)
c.165G>T (p.Leu55=)
c.-98-21032G>T (n.-98-21032G>T)
n.4828G>T
n.4869G>T
 dbSNP
17g.43071222C>GCA500231897BRCA1c.4689G>C (p.Leu1563=)
c.4692G>C (p.Leu1564=)
c.4566G>C (p.Leu1522=)
c.4686G>C (p.Leu1562=)
c.4614G>C (p.Leu1538=)
c.1380G>C (p.Leu460=)
c.1242G>C (p.Leu414=)
c.3804G>C (p.Leu1268=)
c.4569G>C (p.Leu1523=)
c.4758G>C (p.Leu1586=)
c.4551G>C (p.Leu1517=)
c.1254G>C (p.Leu418=)
c.1299G>C (p.Leu433=)
c.4755G>C (p.Leu1585=)
c.1079G>C
c.1266G>C (p.Leu422=)
c.*4475G>C (n.*4475G>C)
c.1005G>C (p.Leu335=)
c.5-7271G>C (n.5-7271G>C)
c.165G>C (p.Leu55=)
c.-98-21032G>C (n.-98-21032G>C)
n.4828G>C
n.4869G>C
 dbSNP
17g.43071222C>TCA500231898BRCA1c.4689G>A (p.Leu1563=)
c.4692G>A (p.Leu1564=)
c.4566G>A (p.Leu1522=)
c.4686G>A (p.Leu1562=)
c.4614G>A (p.Leu1538=)
c.1380G>A (p.Leu460=)
c.1242G>A (p.Leu414=)
c.3804G>A (p.Leu1268=)
c.4569G>A (p.Leu1523=)
c.4758G>A (p.Leu1586=)
c.4551G>A (p.Leu1517=)
c.1254G>A (p.Leu418=)
c.1299G>A (p.Leu433=)
c.4755G>A (p.Leu1585=)
c.1079G>A
c.1266G>A (p.Leu422=)
c.*4475G>A (n.*4475G>A)
c.1005G>A (p.Leu335=)
c.5-7271G>A (n.5-7271G>A)
c.165G>A (p.Leu55=)
c.-98-21032G>A (n.-98-21032G>A)
n.4828G>A
n.4869G>A
 dbSNP
17g.43071223A=CA2260773029BRCA1c.4688T= (p.Leu1563=)
c.4691T= (p.Leu1564=)
c.4565T= (p.Leu1522=)
c.4685T= (p.Leu1562=)
c.4613T= (p.Leu1538=)
c.1379T= (p.Leu460=)
c.1241T= (p.Leu414=)
c.3803T= (p.Leu1268=)
c.4568T= (p.Leu1523=)
c.4757T= (p.Leu1586=)
c.4550T= (p.Leu1517=)
c.1253T= (p.Leu418=)
c.1298T= (p.Leu433=)
c.4754T= (p.Leu1585=)
c.1078T=
c.1265T= (p.Leu422=)
c.*4474T= (n.*4474T=)
c.1004T= (p.Leu335=)
c.5-7272T= (n.5-7272T=)
c.164T= (p.Leu55=)
c.-98-21033T= (n.-98-21033T=)
n.4827T=
n.4868T=
17g.43071223A>CCA10592127BRCA1c.4688T>G (p.Leu1563Arg)
c.4691T>G (p.Leu1564Arg)
c.4565T>G (p.Leu1522Arg)
c.4685T>G (p.Leu1562Arg)
c.4613T>G (p.Leu1538Arg)
c.1379T>G (p.Leu460Arg)
c.1241T>G (p.Leu414Arg)
c.3803T>G (p.Leu1268Arg)
c.4568T>G (p.Leu1523Arg)
c.4757T>G (p.Leu1586Arg)
c.4550T>G (p.Leu1517Arg)
c.1253T>G (p.Leu418Arg)
c.1298T>G (p.Leu433Arg)
c.4754T>G (p.Leu1585Arg)
c.1078T>G
c.1265T>G (p.Leu422Arg)
c.*4474T>G (n.*4474T>G)
c.1004T>G (p.Leu335Arg)
c.5-7272T>G (n.5-7272T>G)
c.164T>G (p.Leu55Arg)
c.-98-21033T>G (n.-98-21033T>G)
n.4827T>G
n.4868T>G
17g.43071223A>GCA002980BRCA1c.4688T>C (p.Leu1563Pro)
c.4691T>C (p.Leu1564Pro)
c.4565T>C (p.Leu1522Pro)
c.4685T>C (p.Leu1562Pro)
c.4613T>C (p.Leu1538Pro)
c.1379T>C (p.Leu460Pro)
c.1241T>C (p.Leu414Pro)
c.3803T>C (p.Leu1268Pro)
c.4568T>C (p.Leu1523Pro)
c.4757T>C (p.Leu1586Pro)
c.4550T>C (p.Leu1517Pro)
c.1253T>C (p.Leu418Pro)
c.1298T>C (p.Leu433Pro)
c.4754T>C (p.Leu1585Pro)
c.1078T>C
c.1265T>C (p.Leu422Pro)
c.*4474T>C (n.*4474T>C)
c.1004T>C (p.Leu335Pro)
c.5-7272T>C (n.5-7272T>C)
c.164T>C (p.Leu55Pro)
c.-98-21033T>C (n.-98-21033T>C)
n.4827T>C
n.4868T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43071223A>TCA10592128BRCA1c.4688T>A (p.Leu1563Gln)
c.4691T>A (p.Leu1564Gln)
c.4565T>A (p.Leu1522Gln)
c.4685T>A (p.Leu1562Gln)
c.4613T>A (p.Leu1538Gln)
c.1379T>A (p.Leu460Gln)
c.1241T>A (p.Leu414Gln)
c.3803T>A (p.Leu1268Gln)
c.4568T>A (p.Leu1523Gln)
c.4757T>A (p.Leu1586Gln)
c.4550T>A (p.Leu1517Gln)
c.1253T>A (p.Leu418Gln)
c.1298T>A (p.Leu433Gln)
c.4754T>A (p.Leu1585Gln)
c.1078T>A
c.1265T>A (p.Leu422Gln)
c.*4474T>A (n.*4474T>A)
c.1004T>A (p.Leu335Gln)
c.5-7272T>A (n.5-7272T>A)
c.164T>A (p.Leu55Gln)
c.-98-21033T>A (n.-98-21033T>A)
n.4827T>A
n.4868T>A
 dbSNP
17g.43071224G>ACA500231899BRCA1c.4687C>T (p.Leu1563=)
c.4690C>T (p.Leu1564=)
c.4564C>T (p.Leu1522=)
c.4684C>T (p.Leu1562=)
c.4612C>T (p.Leu1538=)
c.1378C>T (p.Leu460=)
c.1240C>T (p.Leu414=)
c.3802C>T (p.Leu1268=)
c.4567C>T (p.Leu1523=)
c.4756C>T (p.Leu1586=)
c.4549C>T (p.Leu1517=)
c.1252C>T (p.Leu418=)
c.1297C>T (p.Leu433=)
c.4753C>T (p.Leu1585=)
c.1077C>T
c.1264C>T (p.Leu422=)
c.*4473C>T (n.*4473C>T)
c.1003C>T (p.Leu335=)
c.5-7273C>T (n.5-7273C>T)
c.163C>T (p.Leu55=)
c.-98-21034C>T (n.-98-21034C>T)
n.4826C>T
n.4867C>T
 ClinVar dbSNP gnomAD v4
17g.43071224G>CCA10592129BRCA1c.4687C>G (p.Leu1563Val)
c.4690C>G (p.Leu1564Val)
c.4564C>G (p.Leu1522Val)
c.4684C>G (p.Leu1562Val)
c.4612C>G (p.Leu1538Val)
c.1378C>G (p.Leu460Val)
c.1240C>G (p.Leu414Val)
c.3802C>G (p.Leu1268Val)
c.4567C>G (p.Leu1523Val)
c.4756C>G (p.Leu1586Val)
c.4549C>G (p.Leu1517Val)
c.1252C>G (p.Leu418Val)
c.1297C>G (p.Leu433Val)
c.4753C>G (p.Leu1585Val)
c.1077C>G
c.1264C>G (p.Leu422Val)
c.*4473C>G (n.*4473C>G)
c.1003C>G (p.Leu335Val)
c.5-7273C>G (n.5-7273C>G)
c.163C>G (p.Leu55Val)
c.-98-21034C>G (n.-98-21034C>G)
n.4826C>G
n.4867C>G
 ClinVar dbSNP
17g.43071224G=CA2260773030BRCA1c.4687C= (p.Leu1563=)
c.4690C= (p.Leu1564=)
c.4564C= (p.Leu1522=)
c.4684C= (p.Leu1562=)
c.4612C= (p.Leu1538=)
c.1378C= (p.Leu460=)
c.1240C= (p.Leu414=)
c.3802C= (p.Leu1268=)
c.4567C= (p.Leu1523=)
c.4756C= (p.Leu1586=)
c.4549C= (p.Leu1517=)
c.1252C= (p.Leu418=)
c.1297C= (p.Leu433=)
c.4753C= (p.Leu1585=)
c.1077C=
c.1264C= (p.Leu422=)
c.*4473C= (n.*4473C=)
c.1003C= (p.Leu335=)
c.5-7273C= (n.5-7273C=)
c.163C= (p.Leu55=)
c.-98-21034C= (n.-98-21034C=)
n.4826C=
n.4867C=
17g.43071224G>TCA10592130BRCA1c.4687C>A (p.Leu1563Met)
c.4690C>A (p.Leu1564Met)
c.4564C>A (p.Leu1522Met)
c.4684C>A (p.Leu1562Met)
c.4612C>A (p.Leu1538Met)
c.1378C>A (p.Leu460Met)
c.1240C>A (p.Leu414Met)
c.3802C>A (p.Leu1268Met)
c.4567C>A (p.Leu1523Met)
c.4756C>A (p.Leu1586Met)
c.4549C>A (p.Leu1517Met)
c.1252C>A (p.Leu418Met)
c.1297C>A (p.Leu433Met)
c.4753C>A (p.Leu1585Met)
c.1077C>A
c.1264C>A (p.Leu422Met)
c.*4473C>A (n.*4473C>A)
c.1003C>A (p.Leu335Met)
c.5-7273C>A (n.5-7273C>A)
c.163C>A (p.Leu55Met)
c.-98-21034C>A (n.-98-21034C>A)
n.4826C>A
n.4867C>A
 dbSNP
17g.43071225delCA2825002516BRCA1c.4687del (p.Leu1563TrpfsTer?)
c.4690del (p.Leu1564TrpfsTer?)
c.4564del (p.Leu1522TrpfsTer?)
c.4684del (p.Leu1562TrpfsTer?)
c.4612del (p.Leu1538TrpfsTer?)
c.1378del (p.Leu460TrpfsTer?)
c.1240del (p.Leu414TrpfsTer?)
c.3802del (p.Leu1268TrpfsTer?)
c.4567del (p.Leu1523TrpfsTer?)
c.4756del (p.Leu1586TrpfsTer?)
c.4549del (p.Leu1517TrpfsTer?)
c.1252del (p.Leu418TrpfsTer?)
c.1297del (p.Leu433TrpfsTer?)
c.4753del (p.Leu1585TrpfsTer?)
c.1077del
c.1264del (p.Leu422TrpfsTer?)
c.*4473del (n.*4473del)
c.1003del (p.Leu335TrpfsTer?)
c.5-7273del (n.5-7273del)
c.163del (p.Leu55TrpfsTer?)
c.-98-21034del (n.-98-21034del)
n.4826del
n.4867del
 ClinVar
17g.43071225_43071232dupCA1139771097BRCA1c.4680_4687dup (p.Leu1563ProfsTer?)
c.4683_4690dup (p.Leu1564ProfsTer?)
c.4557_4564dup (p.Leu1522ProfsTer?)
c.4677_4684dup (p.Leu1562ProfsTer?)
c.4605_4612dup (p.Leu1538ProfsTer?)
c.1371_1378dup (p.Leu460ProfsTer?)
c.1233_1240dup (p.Leu414ProfsTer?)
c.3795_3802dup (p.Leu1268ProfsTer?)
c.4560_4567dup (p.Leu1523ProfsTer?)
c.4749_4756dup (p.Leu1586ProfsTer?)
c.4542_4549dup (p.Leu1517ProfsTer?)
c.1245_1252dup (p.Leu418ProfsTer?)
c.1290_1297dup (p.Leu433ProfsTer?)
c.4746_4753dup (p.Leu1585ProfsTer?)
c.1070_1077dup
c.1257_1264dup (p.Leu422ProfsTer?)
c.*4466_*4473dup (n.*4466_*4473dup)
c.996_1003dup (p.Leu335ProfsTer?)
c.5-7280_5-7273dup (n.5-7280_5-7273dup)
c.156_163dup (p.Leu55ProfsTer?)
c.-98-21041_-98-21034dup (n.-98-21041_-98-21034dup)
n.4819_4826dup
n.4860_4867dup
17g.43071225G>ACA500231900BRCA1c.4686C>T (p.Tyr1562=)
c.4689C>T (p.Tyr1563=)
c.4563C>T (p.Tyr1521=)
c.4683C>T (p.Tyr1561=)
c.4611C>T (p.Tyr1537=)
c.1377C>T (p.Tyr459=)
c.1239C>T (p.Tyr413=)
c.3801C>T (p.Tyr1267=)
c.4566C>T (p.Tyr1522=)
c.4755C>T (p.Tyr1585=)
c.4548C>T (p.Tyr1516=)
c.1251C>T (p.Tyr417=)
c.1296C>T (p.Tyr432=)
c.4752C>T (p.Tyr1584=)
c.1076C>T
c.1263C>T (p.Tyr421=)
c.*4472C>T (n.*4472C>T)
c.1002C>T (p.Tyr334=)
c.5-7274C>T (n.5-7274C>T)
c.162C>T (p.Tyr54=)
c.-98-21035C>T (n.-98-21035C>T)
n.4825C>T
n.4866C>T
 ClinVar dbSNP
17g.43071225G>CCA002979BRCA1c.4686C>G (p.Tyr1562Ter)
c.4689C>G (p.Tyr1563Ter)
c.4563C>G (p.Tyr1521Ter)
c.4683C>G (p.Tyr1561Ter)
c.4611C>G (p.Tyr1537Ter)
c.1377C>G (p.Tyr459Ter)
c.1239C>G (p.Tyr413Ter)
c.3801C>G (p.Tyr1267Ter)
c.4566C>G (p.Tyr1522Ter)
c.4755C>G (p.Tyr1585Ter)
c.4548C>G (p.Tyr1516Ter)
c.1251C>G (p.Tyr417Ter)
c.1296C>G (p.Tyr432Ter)
c.4752C>G (p.Tyr1584Ter)
c.1076C>G
c.1263C>G (p.Tyr421Ter)
c.*4472C>G (n.*4472C>G)
c.1002C>G (p.Tyr334Ter)
c.5-7274C>G (n.5-7274C>G)
c.162C>G (p.Tyr54Ter)
c.-98-21035C>G (n.-98-21035C>G)
n.4825C>G
n.4866C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43071225G=CA2260773031BRCA1c.4686C= (p.Tyr1562=)
c.4689C= (p.Tyr1563=)
c.4563C= (p.Tyr1521=)
c.4683C= (p.Tyr1561=)
c.4611C= (p.Tyr1537=)
c.1377C= (p.Tyr459=)
c.1239C= (p.Tyr413=)
c.3801C= (p.Tyr1267=)
c.4566C= (p.Tyr1522=)
c.4755C= (p.Tyr1585=)
c.4548C= (p.Tyr1516=)
c.1251C= (p.Tyr417=)
c.1296C= (p.Tyr432=)
c.4752C= (p.Tyr1584=)
c.1076C=
c.1263C= (p.Tyr421=)
c.*4472C= (n.*4472C=)
c.1002C= (p.Tyr334=)
c.5-7274C= (n.5-7274C=)
c.162C= (p.Tyr54=)
c.-98-21035C= (n.-98-21035C=)
n.4825C=
n.4866C=
17g.43071225G>TCA10592131BRCA1c.4686C>A (p.Tyr1562Ter)
c.4689C>A (p.Tyr1563Ter)
c.4563C>A (p.Tyr1521Ter)
c.4683C>A (p.Tyr1561Ter)
c.4611C>A (p.Tyr1537Ter)
c.1377C>A (p.Tyr459Ter)
c.1239C>A (p.Tyr413Ter)
c.3801C>A (p.Tyr1267Ter)
c.4566C>A (p.Tyr1522Ter)
c.4755C>A (p.Tyr1585Ter)
c.4548C>A (p.Tyr1516Ter)
c.1251C>A (p.Tyr417Ter)
c.1296C>A (p.Tyr432Ter)
c.4752C>A (p.Tyr1584Ter)
c.1076C>A
c.1263C>A (p.Tyr421Ter)
c.*4472C>A (n.*4472C>A)
c.1002C>A (p.Tyr334Ter)
c.5-7274C>A (n.5-7274C>A)
c.162C>A (p.Tyr54Ter)
c.-98-21035C>A (n.-98-21035C>A)
n.4825C>A
n.4866C>A
17g.43071226T>ACA10592132BRCA1c.4685A>T (p.Tyr1562Phe)
c.4688A>T (p.Tyr1563Phe)
c.4562A>T (p.Tyr1521Phe)
c.4682A>T (p.Tyr1561Phe)
c.4610A>T (p.Tyr1537Phe)
c.1376A>T (p.Tyr459Phe)
c.1238A>T (p.Tyr413Phe)
c.3800A>T (p.Tyr1267Phe)
c.4565A>T (p.Tyr1522Phe)
c.4754A>T (p.Tyr1585Phe)
c.4547A>T (p.Tyr1516Phe)
c.1250A>T (p.Tyr417Phe)
c.1295A>T (p.Tyr432Phe)
c.4751A>T (p.Tyr1584Phe)
c.1075A>T
c.1262A>T (p.Tyr421Phe)
c.*4471A>T (n.*4471A>T)
c.1001A>T (p.Tyr334Phe)
c.5-7275A>T (n.5-7275A>T)
c.161A>T (p.Tyr54Phe)
c.-98-21036A>T (n.-98-21036A>T)
n.4824A>T
n.4865A>T
17g.43071226T>CCA10592133BRCA1c.4685A>G (p.Tyr1562Cys)
c.4688A>G (p.Tyr1563Cys)
c.4562A>G (p.Tyr1521Cys)
c.4682A>G (p.Tyr1561Cys)
c.4610A>G (p.Tyr1537Cys)
c.1376A>G (p.Tyr459Cys)
c.1238A>G (p.Tyr413Cys)
c.3800A>G (p.Tyr1267Cys)
c.4565A>G (p.Tyr1522Cys)
c.4754A>G (p.Tyr1585Cys)
c.4547A>G (p.Tyr1516Cys)
c.1250A>G (p.Tyr417Cys)
c.1295A>G (p.Tyr432Cys)
c.4751A>G (p.Tyr1584Cys)
c.1075A>G
c.1262A>G (p.Tyr421Cys)
c.*4471A>G (n.*4471A>G)
c.1001A>G (p.Tyr334Cys)
c.5-7275A>G (n.5-7275A>G)
c.161A>G (p.Tyr54Cys)
c.-98-21036A>G (n.-98-21036A>G)
n.4824A>G
n.4865A>G
17g.43071226T>GCA10592134BRCA1c.4685A>C (p.Tyr1562Ser)
c.4688A>C (p.Tyr1563Ser)
c.4562A>C (p.Tyr1521Ser)
c.4682A>C (p.Tyr1561Ser)
c.4610A>C (p.Tyr1537Ser)
c.1376A>C (p.Tyr459Ser)
c.1238A>C (p.Tyr413Ser)
c.3800A>C (p.Tyr1267Ser)
c.4565A>C (p.Tyr1522Ser)
c.4754A>C (p.Tyr1585Ser)
c.4547A>C (p.Tyr1516Ser)
c.1250A>C (p.Tyr417Ser)
c.1295A>C (p.Tyr432Ser)
c.4751A>C (p.Tyr1584Ser)
c.1075A>C
c.1262A>C (p.Tyr421Ser)
c.*4471A>C (n.*4471A>C)
c.1001A>C (p.Tyr334Ser)
c.5-7275A>C (n.5-7275A>C)
c.161A>C (p.Tyr54Ser)
c.-98-21036A>C (n.-98-21036A>C)
n.4824A>C
n.4865A>C
17g.43071226dupCA10589649BRCA1c.4685dup (p.Tyr1562Ter)
c.4688dup (p.Tyr1563Ter)
c.4562dup (p.Tyr1521Ter)
c.4682dup (p.Tyr1561Ter)
c.4610dup (p.Tyr1537Ter)
c.1376dup (p.Tyr459Ter)
c.1238dup (p.Tyr413Ter)
c.3800dup (p.Tyr1267Ter)
c.4565dup (p.Tyr1522Ter)
c.4754dup (p.Tyr1585Ter)
c.4547dup (p.Tyr1516Ter)
c.1250dup (p.Tyr417Ter)
c.1295dup (p.Tyr432Ter)
c.4751dup (p.Tyr1584Ter)
c.1075dup
c.1262dup (p.Tyr421Ter)
c.*4471dup (n.*4471dup)
c.1001dup (p.Tyr334Ter)
c.5-7275dup (n.5-7275dup)
c.161dup (p.Tyr54Ter)
c.-98-21036dup (n.-98-21036dup)
n.4824dup
n.4865dup
 ClinVar dbSNP
17g.43071227_43071263delCA2695202220BRCA1c.4673-24_4685del
c.4676-24_4688del
c.4550-24_4562del
c.4670-24_4682del
c.4598-24_4610del
c.1364-24_1376del
c.1226-24_1238del
c.3788-24_3800del
c.4553-24_4565del
c.4742-24_4754del
c.4535-24_4547del
c.1238-24_1250del
c.1283-24_1295del
c.4739-24_4751del
c.1063-24_1075del
c.1250-24_1262del
c.*4459-24_*4471del
c.989-24_1001del
c.5-7311_5-7275del (n.5-7311_5-7275del)
c.149-24_161del
c.-98-21072_-98-21036del (n.-98-21072_-98-21036del)
n.4812-24_4824del
n.4853-24_4865del
17g.43071227A>CCA10592135BRCA1c.4684T>G (p.Tyr1562Asp)
c.4687T>G (p.Tyr1563Asp)
c.4561T>G (p.Tyr1521Asp)
c.4681T>G (p.Tyr1561Asp)
c.4609T>G (p.Tyr1537Asp)
c.1375T>G (p.Tyr459Asp)
c.1237T>G (p.Tyr413Asp)
c.3799T>G (p.Tyr1267Asp)
c.4564T>G (p.Tyr1522Asp)
c.4753T>G (p.Tyr1585Asp)
c.4546T>G (p.Tyr1516Asp)
c.1249T>G (p.Tyr417Asp)
c.1294T>G (p.Tyr432Asp)
c.4750T>G (p.Tyr1584Asp)
c.1074T>G
c.1261T>G (p.Tyr421Asp)
c.*4470T>G (n.*4470T>G)
c.1000T>G (p.Tyr334Asp)
c.5-7276T>G (n.5-7276T>G)
c.160T>G (p.Tyr54Asp)
c.-98-21037T>G (n.-98-21037T>G)
n.4823T>G
n.4864T>G
17g.43071227A>GCA10592136BRCA1c.4684T>C (p.Tyr1562His)
c.4687T>C (p.Tyr1563His)
c.4561T>C (p.Tyr1521His)
c.4681T>C (p.Tyr1561His)
c.4609T>C (p.Tyr1537His)
c.1375T>C (p.Tyr459His)
c.1237T>C (p.Tyr413His)
c.3799T>C (p.Tyr1267His)
c.4564T>C (p.Tyr1522His)
c.4753T>C (p.Tyr1585His)
c.4546T>C (p.Tyr1516His)
c.1249T>C (p.Tyr417His)
c.1294T>C (p.Tyr432His)
c.4750T>C (p.Tyr1584His)
c.1074T>C
c.1261T>C (p.Tyr421His)
c.*4470T>C (n.*4470T>C)
c.1000T>C (p.Tyr334His)
c.5-7276T>C (n.5-7276T>C)
c.160T>C (p.Tyr54His)
c.-98-21037T>C (n.-98-21037T>C)
n.4823T>C
n.4864T>C
 dbSNP
17g.43071227A>TCA10592137BRCA1c.4684T>A (p.Tyr1562Asn)
c.4687T>A (p.Tyr1563Asn)
c.4561T>A (p.Tyr1521Asn)
c.4681T>A (p.Tyr1561Asn)
c.4609T>A (p.Tyr1537Asn)
c.1375T>A (p.Tyr459Asn)
c.1237T>A (p.Tyr413Asn)
c.3799T>A (p.Tyr1267Asn)
c.4564T>A (p.Tyr1522Asn)
c.4753T>A (p.Tyr1585Asn)
c.4546T>A (p.Tyr1516Asn)
c.1249T>A (p.Tyr417Asn)
c.1294T>A (p.Tyr432Asn)
c.4750T>A (p.Tyr1584Asn)
c.1074T>A
c.1261T>A (p.Tyr421Asn)
c.*4470T>A (n.*4470T>A)
c.1000T>A (p.Tyr334Asn)
c.5-7276T>A (n.5-7276T>A)
c.160T>A (p.Tyr54Asn)
c.-98-21037T>A (n.-98-21037T>A)
n.4823T>A
n.4864T>A
 dbSNP
17g.43071228A>CCA500231901BRCA1c.4683T>G (p.Pro1561=)
c.4686T>G (p.Pro1562=)
c.4560T>G (p.Pro1520=)
c.4680T>G (p.Pro1560=)
c.4608T>G (p.Pro1536=)
c.1374T>G (p.Pro458=)
c.1236T>G (p.Pro412=)
c.3798T>G (p.Pro1266=)
c.4563T>G (p.Pro1521=)
c.4752T>G (p.Pro1584=)
c.4545T>G (p.Pro1515=)
c.1248T>G (p.Pro416=)
c.1293T>G (p.Pro431=)
c.4749T>G (p.Pro1583=)
c.1073T>G
c.1260T>G (p.Pro420=)
c.*4469T>G (n.*4469T>G)
c.999T>G (p.Pro333=)
c.5-7277T>G (n.5-7277T>G)
c.159T>G (p.Pro53=)
c.-98-21038T>G (n.-98-21038T>G)
n.4822T>G
n.4863T>G
17g.43071228A>GCA500231902BRCA1c.4683T>C (p.Pro1561=)
c.4686T>C (p.Pro1562=)
c.4560T>C (p.Pro1520=)
c.4680T>C (p.Pro1560=)
c.4608T>C (p.Pro1536=)
c.1374T>C (p.Pro458=)
c.1236T>C (p.Pro412=)
c.3798T>C (p.Pro1266=)
c.4563T>C (p.Pro1521=)
c.4752T>C (p.Pro1584=)
c.4545T>C (p.Pro1515=)
c.1248T>C (p.Pro416=)
c.1293T>C (p.Pro431=)
c.4749T>C (p.Pro1583=)
c.1073T>C
c.1260T>C (p.Pro420=)
c.*4469T>C (n.*4469T>C)
c.999T>C (p.Pro333=)
c.5-7277T>C (n.5-7277T>C)
c.159T>C (p.Pro53=)
c.-98-21038T>C (n.-98-21038T>C)
n.4822T>C
n.4863T>C
 ClinVar COSMIC COSMIC
17g.43071228A>TCA500231903BRCA1c.4683T>A (p.Pro1561=)
c.4686T>A (p.Pro1562=)
c.4560T>A (p.Pro1520=)
c.4680T>A (p.Pro1560=)
c.4608T>A (p.Pro1536=)
c.1374T>A (p.Pro458=)
c.1236T>A (p.Pro412=)
c.3798T>A (p.Pro1266=)
c.4563T>A (p.Pro1521=)
c.4752T>A (p.Pro1584=)
c.4545T>A (p.Pro1515=)
c.1248T>A (p.Pro416=)
c.1293T>A (p.Pro431=)
c.4749T>A (p.Pro1583=)
c.1073T>A
c.1260T>A (p.Pro420=)
c.*4469T>A (n.*4469T>A)
c.999T>A (p.Pro333=)
c.5-7277T>A (n.5-7277T>A)
c.159T>A (p.Pro53=)
c.-98-21038T>A (n.-98-21038T>A)
n.4822T>A
n.4863T>A
 dbSNP
17g.43071228_43071230delinsAGGCA2260773032BRCA1c.4681_4683delinsCCT (p.Pro1561=)
c.4684_4686delinsCCT (p.Pro1562=)
c.4558_4560delinsCCT (p.Pro1520=)
c.4678_4680delinsCCT (p.Pro1560=)
c.4606_4608delinsCCT (p.Pro1536=)
c.1372_1374delinsCCT (p.Pro458=)
c.1234_1236delinsCCT (p.Pro412=)
c.3796_3798delinsCCT (p.Pro1266=)
c.4561_4563delinsCCT (p.Pro1521=)
c.4750_4752delinsCCT (p.Pro1584=)
c.4543_4545delinsCCT (p.Pro1515=)
c.1246_1248delinsCCT (p.Pro416=)
c.1291_1293delinsCCT (p.Pro431=)
c.4747_4749delinsCCT (p.Pro1583=)
c.1071_1073delinsCCT
c.1258_1260delinsCCT (p.Pro420=)
c.*4467_*4469delinsCCT (n.*4467_*4469delinsCCT)
c.997_999delinsCCT (p.Pro333=)
c.5-7279_5-7277delinsCCT (n.5-7279_5-7277delinsCCT)
c.157_159delinsCCT (p.Pro53=)
c.-98-21040_-98-21038delinsCCT (n.-98-21040_-98-21038delinsCCT)
n.4820_4822delinsCCT
n.4861_4863delinsCCT
17g.43071229G>ACA002978BRCA1c.4682C>T (p.Pro1561Leu)
c.4685C>T (p.Pro1562Leu)
c.4559C>T (p.Pro1520Leu)
c.4679C>T (p.Pro1560Leu)
c.4607C>T (p.Pro1536Leu)
c.1373C>T (p.Pro458Leu)
c.1235C>T (p.Pro412Leu)
c.3797C>T (p.Pro1266Leu)
c.4562C>T (p.Pro1521Leu)
c.4751C>T (p.Pro1584Leu)
c.4544C>T (p.Pro1515Leu)
c.1247C>T (p.Pro416Leu)
c.1292C>T (p.Pro431Leu)
c.4748C>T (p.Pro1583Leu)
c.1072C>T
c.1259C>T (p.Pro420Leu)
c.*4468C>T (n.*4468C>T)
c.998C>T (p.Pro333Leu)
c.5-7278C>T (n.5-7278C>T)
c.158C>T (p.Pro53Leu)
c.-98-21039C>T (n.-98-21039C>T)
n.4821C>T
n.4862C>T
 ClinVar dbSNP gnomAD v4
17g.43071229G>CCA10592138BRCA1c.4682C>G (p.Pro1561Arg)
c.4685C>G (p.Pro1562Arg)
c.4559C>G (p.Pro1520Arg)
c.4679C>G (p.Pro1560Arg)
c.4607C>G (p.Pro1536Arg)
c.1373C>G (p.Pro458Arg)
c.1235C>G (p.Pro412Arg)
c.3797C>G (p.Pro1266Arg)
c.4562C>G (p.Pro1521Arg)
c.4751C>G (p.Pro1584Arg)
c.4544C>G (p.Pro1515Arg)
c.1247C>G (p.Pro416Arg)
c.1292C>G (p.Pro431Arg)
c.4748C>G (p.Pro1583Arg)
c.1072C>G
c.1259C>G (p.Pro420Arg)
c.*4468C>G (n.*4468C>G)
c.998C>G (p.Pro333Arg)
c.5-7278C>G (n.5-7278C>G)
c.158C>G (p.Pro53Arg)
c.-98-21039C>G (n.-98-21039C>G)
n.4821C>G
n.4862C>G
 ClinVar dbSNP
17g.43071229G=CA2260773033BRCA1c.4682C= (p.Pro1561=)
c.4685C= (p.Pro1562=)
c.4559C= (p.Pro1520=)
c.4679C= (p.Pro1560=)
c.4607C= (p.Pro1536=)
c.1373C= (p.Pro458=)
c.1235C= (p.Pro412=)
c.3797C= (p.Pro1266=)
c.4562C= (p.Pro1521=)
c.4751C= (p.Pro1584=)
c.4544C= (p.Pro1515=)
c.1247C= (p.Pro416=)
c.1292C= (p.Pro431=)
c.4748C= (p.Pro1583=)
c.1072C=
c.1259C= (p.Pro420=)
c.*4468C= (n.*4468C=)
c.998C= (p.Pro333=)
c.5-7278C= (n.5-7278C=)
c.158C= (p.Pro53=)
c.-98-21039C= (n.-98-21039C=)
n.4821C=
n.4862C=
17g.43071229G>TCA10592139BRCA1c.4682C>A (p.Pro1561His)
c.4685C>A (p.Pro1562His)
c.4559C>A (p.Pro1520His)
c.4679C>A (p.Pro1560His)
c.4607C>A (p.Pro1536His)
c.1373C>A (p.Pro458His)
c.1235C>A (p.Pro412His)
c.3797C>A (p.Pro1266His)
c.4562C>A (p.Pro1521His)
c.4751C>A (p.Pro1584His)
c.4544C>A (p.Pro1515His)
c.1247C>A (p.Pro416His)
c.1292C>A (p.Pro431His)
c.4748C>A (p.Pro1583His)
c.1072C>A
c.1259C>A (p.Pro420His)
c.*4468C>A (n.*4468C>A)
c.998C>A (p.Pro333His)
c.5-7278C>A (n.5-7278C>A)
c.158C>A (p.Pro53His)
c.-98-21039C>A (n.-98-21039C>A)
n.4821C>A
n.4862C>A
17g.43071231_43071232delCA002977BRCA1c.4681_4682del (p.Pro1561LeufsTer11)
c.4684_4685del (p.Pro1562LeufsTer11)
c.4558_4559del (p.Pro1520LeufsTer11)
c.4678_4679del (p.Pro1560LeufsTer11)
c.4606_4607del (p.Pro1536LeufsTer11)
c.1372_1373del (p.Pro458LeufsTer11)
c.1234_1235del (p.Pro412LeufsTer11)
c.3796_3797del (p.Pro1266LeufsTer11)
c.4561_4562del (p.Pro1521LeufsTer11)
c.4750_4751del (p.Pro1584LeufsTer11)
c.4543_4544del (p.Pro1515LeufsTer11)
c.1246_1247del (p.Pro416LeufsTer11)
c.1291_1292del (p.Pro431LeufsTer11)
c.4747_4748del (p.Pro1583LeufsTer11)
c.1071_1072del
c.1258_1259del (p.Pro420LeufsTer11)
c.*4467_*4468del (n.*4467_*4468del)
c.997_998del (p.Pro333LeufsTer11)
c.5-7279_5-7278del (n.5-7279_5-7278del)
c.157_158del (p.Pro53LeufsTer11)
c.-98-21040_-98-21039del (n.-98-21040_-98-21039del)
n.4820_4821del
n.4861_4862del
 ClinVar dbSNP
17g.43071230G>ACA10592140BRCA1c.4681C>T (p.Pro1561Ser)
c.4684C>T (p.Pro1562Ser)
c.4558C>T (p.Pro1520Ser)
c.4678C>T (p.Pro1560Ser)
c.4606C>T (p.Pro1536Ser)
c.1372C>T (p.Pro458Ser)
c.1234C>T (p.Pro412Ser)
c.3796C>T (p.Pro1266Ser)
c.4561C>T (p.Pro1521Ser)
c.4750C>T (p.Pro1584Ser)
c.4543C>T (p.Pro1515Ser)
c.1246C>T (p.Pro416Ser)
c.1291C>T (p.Pro431Ser)
c.4747C>T (p.Pro1583Ser)
c.1071C>T
c.1258C>T (p.Pro420Ser)
c.*4467C>T (n.*4467C>T)
c.997C>T (p.Pro333Ser)
c.5-7279C>T (n.5-7279C>T)
c.157C>T (p.Pro53Ser)
c.-98-21040C>T (n.-98-21040C>T)
n.4820C>T
n.4861C>T
 ClinVar dbSNP
17g.43071230G>CCA10592141BRCA1c.4681C>G (p.Pro1561Ala)
c.4684C>G (p.Pro1562Ala)
c.4558C>G (p.Pro1520Ala)
c.4678C>G (p.Pro1560Ala)
c.4606C>G (p.Pro1536Ala)
c.1372C>G (p.Pro458Ala)
c.1234C>G (p.Pro412Ala)
c.3796C>G (p.Pro1266Ala)
c.4561C>G (p.Pro1521Ala)
c.4750C>G (p.Pro1584Ala)
c.4543C>G (p.Pro1515Ala)
c.1246C>G (p.Pro416Ala)
c.1291C>G (p.Pro431Ala)
c.4747C>G (p.Pro1583Ala)
c.1071C>G
c.1258C>G (p.Pro420Ala)
c.*4467C>G (n.*4467C>G)
c.997C>G (p.Pro333Ala)
c.5-7279C>G (n.5-7279C>G)
c.157C>G (p.Pro53Ala)
c.-98-21040C>G (n.-98-21040C>G)
n.4820C>G
n.4861C>G
 dbSNP
17g.43071230G>TCA10592142BRCA1c.4681C>A (p.Pro1561Thr)
c.4684C>A (p.Pro1562Thr)
c.4558C>A (p.Pro1520Thr)
c.4678C>A (p.Pro1560Thr)
c.4606C>A (p.Pro1536Thr)
c.1372C>A (p.Pro458Thr)
c.1234C>A (p.Pro412Thr)
c.3796C>A (p.Pro1266Thr)
c.4561C>A (p.Pro1521Thr)
c.4750C>A (p.Pro1584Thr)
c.4543C>A (p.Pro1515Thr)
c.1246C>A (p.Pro416Thr)
c.1291C>A (p.Pro431Thr)
c.4747C>A (p.Pro1583Thr)
c.1071C>A
c.1258C>A (p.Pro420Thr)
c.*4467C>A (n.*4467C>A)
c.997C>A (p.Pro333Thr)
c.5-7279C>A (n.5-7279C>A)
c.157C>A (p.Pro53Thr)
c.-98-21040C>A (n.-98-21040C>A)
n.4820C>A
n.4861C>A
 dbSNP COSMIC COSMIC
17g.43071231G>ACA10580511BRCA1c.4680C>T (p.Thr1560=)
c.4683C>T (p.Thr1561=)
c.4557C>T (p.Thr1519=)
c.4677C>T (p.Thr1559=)
c.4605C>T (p.Thr1535=)
c.1371C>T (p.Thr457=)
c.1233C>T (p.Thr411=)
c.3795C>T (p.Thr1265=)
c.4560C>T (p.Thr1520=)
c.4749C>T (p.Thr1583=)
c.4542C>T (p.Thr1514=)
c.1245C>T (p.Thr415=)
c.1290C>T (p.Thr430=)
c.4746C>T (p.Thr1582=)
c.1070C>T
c.1257C>T (p.Thr419=)
c.*4466C>T (n.*4466C>T)
c.996C>T (p.Thr332=)
c.5-7280C>T (n.5-7280C>T)
c.156C>T (p.Thr52=)
c.-98-21041C>T (n.-98-21041C>T)
n.4819C>T
n.4860C>T
 ClinVar dbSNP gnomAD v4
17g.43071231G>CCA16620422BRCA1c.4680C>G (p.Thr1560=)
c.4683C>G (p.Thr1561=)
c.4557C>G (p.Thr1519=)
c.4677C>G (p.Thr1559=)
c.4605C>G (p.Thr1535=)
c.1371C>G (p.Thr457=)
c.1233C>G (p.Thr411=)
c.3795C>G (p.Thr1265=)
c.4560C>G (p.Thr1520=)
c.4749C>G (p.Thr1583=)
c.4542C>G (p.Thr1514=)
c.1245C>G (p.Thr415=)
c.1290C>G (p.Thr430=)
c.4746C>G (p.Thr1582=)
c.1070C>G
c.1257C>G (p.Thr419=)
c.*4466C>G (n.*4466C>G)
c.996C>G (p.Thr332=)
c.5-7280C>G (n.5-7280C>G)
c.156C>G (p.Thr52=)
c.-98-21041C>G (n.-98-21041C>G)
n.4819C>G
n.4860C>G
 ClinVar dbSNP
17g.43071231G=CA2260773034BRCA1c.4680C= (p.Thr1560=)
c.4683C= (p.Thr1561=)
c.4557C= (p.Thr1519=)
c.4677C= (p.Thr1559=)
c.4605C= (p.Thr1535=)
c.1371C= (p.Thr457=)
c.1233C= (p.Thr411=)
c.3795C= (p.Thr1265=)
c.4560C= (p.Thr1520=)
c.4749C= (p.Thr1583=)
c.4542C= (p.Thr1514=)
c.1245C= (p.Thr415=)
c.1290C= (p.Thr430=)
c.4746C= (p.Thr1582=)
c.1070C=
c.1257C= (p.Thr419=)
c.*4466C= (n.*4466C=)
c.996C= (p.Thr332=)
c.5-7280C= (n.5-7280C=)
c.156C= (p.Thr52=)
c.-98-21041C= (n.-98-21041C=)
n.4819C=
n.4860C=
17g.43071231G>TCA500231904BRCA1c.4680C>A (p.Thr1560=)
c.4683C>A (p.Thr1561=)
c.4557C>A (p.Thr1519=)
c.4677C>A (p.Thr1559=)
c.4605C>A (p.Thr1535=)
c.1371C>A (p.Thr457=)
c.1233C>A (p.Thr411=)
c.3795C>A (p.Thr1265=)
c.4560C>A (p.Thr1520=)
c.4749C>A (p.Thr1583=)
c.4542C>A (p.Thr1514=)
c.1245C>A (p.Thr415=)
c.1290C>A (p.Thr430=)
c.4746C>A (p.Thr1582=)
c.1070C>A
c.1257C>A (p.Thr419=)
c.*4466C>A (n.*4466C>A)
c.996C>A (p.Thr332=)
c.5-7280C>A (n.5-7280C>A)
c.156C>A (p.Thr52=)
c.-98-21041C>A (n.-98-21041C>A)
n.4819C>A
n.4860C>A
 ClinVar dbSNP
17g.43071232G>ACA002976BRCA1c.4679C>T (p.Thr1560Ile)
c.4682C>T (p.Thr1561Ile)
c.4556C>T (p.Thr1519Ile)
c.4676C>T (p.Thr1559Ile)
c.4604C>T (p.Thr1535Ile)
c.1370C>T (p.Thr457Ile)
c.1232C>T (p.Thr411Ile)
c.3794C>T (p.Thr1265Ile)
c.4559C>T (p.Thr1520Ile)
c.4748C>T (p.Thr1583Ile)
c.4541C>T (p.Thr1514Ile)
c.1244C>T (p.Thr415Ile)
c.1289C>T (p.Thr430Ile)
c.4745C>T (p.Thr1582Ile)
c.1069C>T
c.1256C>T (p.Thr419Ile)
c.*4465C>T (n.*4465C>T)
c.995C>T (p.Thr332Ile)
c.5-7281C>T (n.5-7281C>T)
c.155C>T (p.Thr52Ile)
c.-98-21042C>T (n.-98-21042C>T)
n.4818C>T
n.4859C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43071232G>CCA10592143BRCA1c.4679C>G (p.Thr1560Ser)
c.4682C>G (p.Thr1561Ser)
c.4556C>G (p.Thr1519Ser)
c.4676C>G (p.Thr1559Ser)
c.4604C>G (p.Thr1535Ser)
c.1370C>G (p.Thr457Ser)
c.1232C>G (p.Thr411Ser)
c.3794C>G (p.Thr1265Ser)
c.4559C>G (p.Thr1520Ser)
c.4748C>G (p.Thr1583Ser)
c.4541C>G (p.Thr1514Ser)
c.1244C>G (p.Thr415Ser)
c.1289C>G (p.Thr430Ser)
c.4745C>G (p.Thr1582Ser)
c.1069C>G
c.1256C>G (p.Thr419Ser)
c.*4465C>G (n.*4465C>G)
c.995C>G (p.Thr332Ser)
c.5-7281C>G (n.5-7281C>G)
c.155C>G (p.Thr52Ser)
c.-98-21042C>G (n.-98-21042C>G)
n.4818C>G
n.4859C>G
 dbSNP
17g.43071232G=CA2260773035BRCA1c.4679C= (p.Thr1560=)
c.4682C= (p.Thr1561=)
c.4556C= (p.Thr1519=)
c.4676C= (p.Thr1559=)
c.4604C= (p.Thr1535=)
c.1370C= (p.Thr457=)
c.1232C= (p.Thr411=)
c.3794C= (p.Thr1265=)
c.4559C= (p.Thr1520=)
c.4748C= (p.Thr1583=)
c.4541C= (p.Thr1514=)
c.1244C= (p.Thr415=)
c.1289C= (p.Thr430=)
c.4745C= (p.Thr1582=)
c.1069C=
c.1256C= (p.Thr419=)
c.*4465C= (n.*4465C=)
c.995C= (p.Thr332=)
c.5-7281C= (n.5-7281C=)
c.155C= (p.Thr52=)
c.-98-21042C= (n.-98-21042C=)
n.4818C=
n.4859C=
17g.43071232G>TCA052746BRCA1c.4679C>A (p.Thr1560Asn)
c.4682C>A (p.Thr1561Asn)
c.4556C>A (p.Thr1519Asn)
c.4676C>A (p.Thr1559Asn)
c.4604C>A (p.Thr1535Asn)
c.1370C>A (p.Thr457Asn)
c.1232C>A (p.Thr411Asn)
c.3794C>A (p.Thr1265Asn)
c.4559C>A (p.Thr1520Asn)
c.4748C>A (p.Thr1583Asn)
c.4541C>A (p.Thr1514Asn)
c.1244C>A (p.Thr415Asn)
c.1289C>A (p.Thr430Asn)
c.4745C>A (p.Thr1582Asn)
c.1069C>A
c.1256C>A (p.Thr419Asn)
c.*4465C>A (n.*4465C>A)
c.995C>A (p.Thr332Asn)
c.5-7281C>A (n.5-7281C>A)
c.155C>A (p.Thr52Asn)
c.-98-21042C>A (n.-98-21042C>A)
n.4818C>A
n.4859C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43071232_43071233delinsGTCA2260773036BRCA1c.4678_4679delinsAC (p.Thr1560=)
c.4681_4682delinsAC (p.Thr1561=)
c.4555_4556delinsAC (p.Thr1519=)
c.4675_4676delinsAC (p.Thr1559=)
c.4603_4604delinsAC (p.Thr1535=)
c.1369_1370delinsAC (p.Thr457=)
c.1231_1232delinsAC (p.Thr411=)
c.3793_3794delinsAC (p.Thr1265=)
c.4558_4559delinsAC (p.Thr1520=)
c.4747_4748delinsAC (p.Thr1583=)
c.4540_4541delinsAC (p.Thr1514=)
c.1243_1244delinsAC (p.Thr415=)
c.1288_1289delinsAC (p.Thr430=)
c.4744_4745delinsAC (p.Thr1582=)
c.1068_1069delinsAC
c.1255_1256delinsAC (p.Thr419=)
c.*4464_*4465delinsAC (n.*4464_*4465delinsAC)
c.994_995delinsAC (p.Thr332=)
c.5-7282_5-7281delinsAC (n.5-7282_5-7281delinsAC)
c.154_155delinsAC (p.Thr52=)
c.-98-21043_-98-21042delinsAC (n.-98-21043_-98-21042delinsAC)
n.4817_4818delinsAC
n.4858_4859delinsAC
17g.43071233T>ACA10592144BRCA1c.4678A>T (p.Thr1560Ser)
c.4681A>T (p.Thr1561Ser)
c.4555A>T (p.Thr1519Ser)
c.4675A>T (p.Thr1559Ser)
c.4603A>T (p.Thr1535Ser)
c.1369A>T (p.Thr457Ser)
c.1231A>T (p.Thr411Ser)
c.3793A>T (p.Thr1265Ser)
c.4558A>T (p.Thr1520Ser)
c.4747A>T (p.Thr1583Ser)
c.4540A>T (p.Thr1514Ser)
c.1243A>T (p.Thr415Ser)
c.1288A>T (p.Thr430Ser)
c.4744A>T (p.Thr1582Ser)
c.1068A>T
c.1255A>T (p.Thr419Ser)
c.*4464A>T (n.*4464A>T)
c.994A>T (p.Thr332Ser)
c.5-7282A>T (n.5-7282A>T)
c.154A>T (p.Thr52Ser)
c.-98-21043A>T (n.-98-21043A>T)
n.4817A>T
n.4858A>T
 dbSNP
17g.43071233T>CCA10592145BRCA1c.4678A>G (p.Thr1560Ala)
c.4681A>G (p.Thr1561Ala)
c.4555A>G (p.Thr1519Ala)
c.4675A>G (p.Thr1559Ala)
c.4603A>G (p.Thr1535Ala)
c.1369A>G (p.Thr457Ala)
c.1231A>G (p.Thr411Ala)
c.3793A>G (p.Thr1265Ala)
c.4558A>G (p.Thr1520Ala)
c.4747A>G (p.Thr1583Ala)
c.4540A>G (p.Thr1514Ala)
c.1243A>G (p.Thr415Ala)
c.1288A>G (p.Thr430Ala)
c.4744A>G (p.Thr1582Ala)
c.1068A>G
c.1255A>G (p.Thr419Ala)
c.*4464A>G (n.*4464A>G)
c.994A>G (p.Thr332Ala)
c.5-7282A>G (n.5-7282A>G)
c.154A>G (p.Thr52Ala)
c.-98-21043A>G (n.-98-21043A>G)
n.4817A>G
n.4858A>G
 dbSNP
17g.43071233T>GCA10592146BRCA1c.4678A>C (p.Thr1560Pro)
c.4681A>C (p.Thr1561Pro)
c.4555A>C (p.Thr1519Pro)
c.4675A>C (p.Thr1559Pro)
c.4603A>C (p.Thr1535Pro)
c.1369A>C (p.Thr457Pro)
c.1231A>C (p.Thr411Pro)
c.3793A>C (p.Thr1265Pro)
c.4558A>C (p.Thr1520Pro)
c.4747A>C (p.Thr1583Pro)
c.4540A>C (p.Thr1514Pro)
c.1243A>C (p.Thr415Pro)
c.1288A>C (p.Thr430Pro)
c.4744A>C (p.Thr1582Pro)
c.1068A>C
c.1255A>C (p.Thr419Pro)
c.*4464A>C (n.*4464A>C)
c.994A>C (p.Thr332Pro)
c.5-7282A>C (n.5-7282A>C)
c.154A>C (p.Thr52Pro)
c.-98-21043A>C (n.-98-21043A>C)
n.4817A>C
n.4858A>C
 dbSNP
17g.43071234delCA002975BRCA1c.4678del (p.Thr1560ProfsTer?)
c.4681del (p.Thr1561ProfsTer?)
c.4555del (p.Thr1519ProfsTer?)
c.4675del (p.Thr1559ProfsTer?)
c.4603del (p.Thr1535ProfsTer?)
c.1369del (p.Thr457ProfsTer?)
c.1231del (p.Thr411ProfsTer?)
c.3793del (p.Thr1265ProfsTer?)
c.4558del (p.Thr1520ProfsTer?)
c.4747del (p.Thr1583ProfsTer?)
c.4540del (p.Thr1514ProfsTer?)
c.1243del (p.Thr415ProfsTer?)
c.1288del (p.Thr430ProfsTer?)
c.4744del (p.Thr1582ProfsTer?)
c.1068del
c.1255del (p.Thr419ProfsTer?)
c.*4464del (n.*4464del)
c.994del (p.Thr332ProfsTer?)
c.5-7282del (n.5-7282del)
c.154del (p.Thr52ProfsTer?)
c.-98-21043del (n.-98-21043del)
n.4817del
n.4858del
 ClinVar dbSNP
17g.43071234T>ACA500231905BRCA1c.4677A>T (p.Gly1559=)
c.4680A>T (p.Gly1560=)
c.4554A>T (p.Gly1518=)
c.4674A>T (p.Gly1558=)
c.4602A>T (p.Gly1534=)
c.1368A>T (p.Gly456=)
c.1230A>T (p.Gly410=)
c.3792A>T (p.Gly1264=)
c.4557A>T (p.Gly1519=)
c.4746A>T (p.Gly1582=)
c.4539A>T (p.Gly1513=)
c.1242A>T (p.Gly414=)
c.1287A>T (p.Gly429=)
c.4743A>T (p.Gly1581=)
c.1067A>T
c.1254A>T (p.Gly418=)
c.*4463A>T (n.*4463A>T)
c.993A>T (p.Gly331=)
c.5-7283A>T (n.5-7283A>T)
c.153A>T (p.Gly51=)
c.-98-21044A>T (n.-98-21044A>T)
n.4816A>T
n.4857A>T
 ClinVar dbSNP
17g.43071234T>CCA500231907BRCA1c.4677A>G (p.Gly1559=)
c.4680A>G (p.Gly1560=)
c.4554A>G (p.Gly1518=)
c.4674A>G (p.Gly1558=)
c.4602A>G (p.Gly1534=)
c.1368A>G (p.Gly456=)
c.1230A>G (p.Gly410=)
c.3792A>G (p.Gly1264=)
c.4557A>G (p.Gly1519=)
c.4746A>G (p.Gly1582=)
c.4539A>G (p.Gly1513=)
c.1242A>G (p.Gly414=)
c.1287A>G (p.Gly429=)
c.4743A>G (p.Gly1581=)
c.1067A>G
c.1254A>G (p.Gly418=)
c.*4463A>G (n.*4463A>G)
c.993A>G (p.Gly331=)
c.5-7283A>G (n.5-7283A>G)
c.153A>G (p.Gly51=)
c.-98-21044A>G (n.-98-21044A>G)
n.4816A>G
n.4857A>G
17g.43071234T>GCA500231906BRCA1c.4677A>C (p.Gly1559=)
c.4680A>C (p.Gly1560=)
c.4554A>C (p.Gly1518=)
c.4674A>C (p.Gly1558=)
c.4602A>C (p.Gly1534=)
c.1368A>C (p.Gly456=)
c.1230A>C (p.Gly410=)
c.3792A>C (p.Gly1264=)
c.4557A>C (p.Gly1519=)
c.4746A>C (p.Gly1582=)
c.4539A>C (p.Gly1513=)
c.1242A>C (p.Gly414=)
c.1287A>C (p.Gly429=)
c.4743A>C (p.Gly1581=)
c.1067A>C
c.1254A>C (p.Gly418=)
c.*4463A>C (n.*4463A>C)
c.993A>C (p.Gly331=)
c.5-7283A>C (n.5-7283A>C)
c.153A>C (p.Gly51=)
c.-98-21044A>C (n.-98-21044A>C)
n.4816A>C
n.4857A>C
17g.43071234T=CA2260773038BRCA1c.4677A= (p.Gly1559=)
c.4680A= (p.Gly1560=)
c.4554A= (p.Gly1518=)
c.4674A= (p.Gly1558=)
c.4602A= (p.Gly1534=)
c.1368A= (p.Gly456=)
c.1230A= (p.Gly410=)
c.3792A= (p.Gly1264=)
c.4557A= (p.Gly1519=)
c.4746A= (p.Gly1582=)
c.4539A= (p.Gly1513=)
c.1242A= (p.Gly414=)
c.1287A= (p.Gly429=)
c.4743A= (p.Gly1581=)
c.1067A=
c.1254A= (p.Gly418=)
c.*4463A= (n.*4463A=)
c.993A= (p.Gly331=)
c.5-7283A= (n.5-7283A=)
c.153A= (p.Gly51=)
c.-98-21044A= (n.-98-21044A=)
n.4816A=
n.4857A=
17g.43071234_43071236delinsTCCCA2260773037BRCA1c.4675_4677delinsGGA (p.Gly1559=)
c.4678_4680delinsGGA (p.Gly1560=)
c.4552_4554delinsGGA (p.Gly1518=)
c.4672_4674delinsGGA (p.Gly1558=)
c.4600_4602delinsGGA (p.Gly1534=)
c.1366_1368delinsGGA (p.Gly456=)
c.1228_1230delinsGGA (p.Gly410=)
c.3790_3792delinsGGA (p.Gly1264=)
c.4555_4557delinsGGA (p.Gly1519=)
c.4744_4746delinsGGA (p.Gly1582=)
c.4537_4539delinsGGA (p.Gly1513=)
c.1240_1242delinsGGA (p.Gly414=)
c.1285_1287delinsGGA (p.Gly429=)
c.4741_4743delinsGGA (p.Gly1581=)
c.1065_1067delinsGGA
c.1252_1254delinsGGA (p.Gly418=)
c.*4461_*4463delinsGGA (n.*4461_*4463delinsGGA)
c.991_993delinsGGA (p.Gly331=)
c.5-7285_5-7283delinsGGA (n.5-7285_5-7283delinsGGA)
c.151_153delinsGGA (p.Gly51=)
c.-98-21046_-98-21044delinsGGA (n.-98-21046_-98-21044delinsGGA)
n.4814_4816delinsGGA
n.4855_4857delinsGGA
17g.43071235C>ACA002974BRCA1c.4676G>T (p.Gly1559Val)
c.4679G>T (p.Gly1560Val)
c.4553G>T (p.Gly1518Val)
c.4673G>T (p.Gly1558Val)
c.4601G>T (p.Gly1534Val)
c.1367G>T (p.Gly456Val)
c.1229G>T (p.Gly410Val)
c.3791G>T (p.Gly1264Val)
c.4556G>T (p.Gly1519Val)
c.4745G>T (p.Gly1582Val)
c.4538G>T (p.Gly1513Val)
c.1241G>T (p.Gly414Val)
c.1286G>T (p.Gly429Val)
c.4742G>T (p.Gly1581Val)
c.1066G>T
c.1253G>T (p.Gly418Val)
c.*4462G>T (n.*4462G>T)
c.992G>T (p.Gly331Val)
c.5-7284G>T (n.5-7284G>T)
c.152G>T (p.Gly51Val)
c.-98-21045G>T (n.-98-21045G>T)
n.4815G>T
n.4856G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43071235C=CA2260773040BRCA1c.4676G= (p.Gly1559=)
c.4679G= (p.Gly1560=)
c.4553G= (p.Gly1518=)
c.4673G= (p.Gly1558=)
c.4601G= (p.Gly1534=)
c.1367G= (p.Gly456=)
c.1229G= (p.Gly410=)
c.3791G= (p.Gly1264=)
c.4556G= (p.Gly1519=)
c.4745G= (p.Gly1582=)
c.4538G= (p.Gly1513=)
c.1241G= (p.Gly414=)
c.1286G= (p.Gly429=)
c.4742G= (p.Gly1581=)
c.1066G=
c.1253G= (p.Gly418=)
c.*4462G= (n.*4462G=)
c.992G= (p.Gly331=)
c.5-7284G= (n.5-7284G=)
c.152G= (p.Gly51=)
c.-98-21045G= (n.-98-21045G=)
n.4815G=
n.4856G=
17g.43071235C>GCA10592147BRCA1c.4676G>C (p.Gly1559Ala)
c.4679G>C (p.Gly1560Ala)
c.4553G>C (p.Gly1518Ala)
c.4673G>C (p.Gly1558Ala)
c.4601G>C (p.Gly1534Ala)
c.1367G>C (p.Gly456Ala)
c.1229G>C (p.Gly410Ala)
c.3791G>C (p.Gly1264Ala)
c.4556G>C (p.Gly1519Ala)
c.4745G>C (p.Gly1582Ala)
c.4538G>C (p.Gly1513Ala)
c.1241G>C (p.Gly414Ala)
c.1286G>C (p.Gly429Ala)
c.4742G>C (p.Gly1581Ala)
c.1066G>C
c.1253G>C (p.Gly418Ala)
c.*4462G>C (n.*4462G>C)
c.992G>C (p.Gly331Ala)
c.5-7284G>C (n.5-7284G>C)
c.152G>C (p.Gly51Ala)
c.-98-21045G>C (n.-98-21045G>C)
n.4815G>C
n.4856G>C
 dbSNP
17g.43071235C>TCA10592148BRCA1c.4676G>A (p.Gly1559Glu)
c.4679G>A (p.Gly1560Glu)
c.4553G>A (p.Gly1518Glu)
c.4673G>A (p.Gly1558Glu)
c.4601G>A (p.Gly1534Glu)
c.1367G>A (p.Gly456Glu)
c.1229G>A (p.Gly410Glu)
c.3791G>A (p.Gly1264Glu)
c.4556G>A (p.Gly1519Glu)
c.4745G>A (p.Gly1582Glu)
c.4538G>A (p.Gly1513Glu)
c.1241G>A (p.Gly414Glu)
c.1286G>A (p.Gly429Glu)
c.4742G>A (p.Gly1581Glu)
c.1066G>A
c.1253G>A (p.Gly418Glu)
c.*4462G>A (n.*4462G>A)
c.992G>A (p.Gly331Glu)
c.5-7284G>A (n.5-7284G>A)
c.152G>A (p.Gly51Glu)
c.-98-21045G>A (n.-98-21045G>A)
n.4815G>A
n.4856G>A
 ClinVar dbSNP
17g.43071237delCA2580094190BRCA1c.4676del (p.Gly1559GlufsTer?)
c.4679del (p.Gly1560GlufsTer?)
c.4553del (p.Gly1518GlufsTer?)
c.4673del (p.Gly1558GlufsTer?)
c.4601del (p.Gly1534GlufsTer?)
c.1367del (p.Gly456GlufsTer?)
c.1229del (p.Gly410GlufsTer?)
c.3791del (p.Gly1264GlufsTer?)
c.4556del (p.Gly1519GlufsTer?)
c.4745del (p.Gly1582GlufsTer?)
c.4538del (p.Gly1513GlufsTer?)
c.1241del (p.Gly414GlufsTer?)
c.1286del (p.Gly429GlufsTer?)
c.4742del (p.Gly1581GlufsTer?)
c.1066del
c.1253del (p.Gly418GlufsTer?)
c.*4462del (n.*4462del)
c.992del (p.Gly331GlufsTer?)
c.5-7284del (n.5-7284del)
c.152del (p.Gly51GlufsTer?)
c.-98-21045del (n.-98-21045del)
n.4815del
n.4856del
 ClinVar
17g.43071236_43071237delCA645509504BRCA1c.4675_4676del (p.Gly1559AsnfsTer13)
c.4678_4679del (p.Gly1560AsnfsTer13)
c.4552_4553del (p.Gly1518AsnfsTer13)
c.4672_4673del (p.Gly1558AsnfsTer13)
c.4600_4601del (p.Gly1534AsnfsTer13)
c.1366_1367del (p.Gly456AsnfsTer13)
c.1228_1229del (p.Gly410AsnfsTer13)
c.3790_3791del (p.Gly1264AsnfsTer13)
c.4555_4556del (p.Gly1519AsnfsTer13)
c.4744_4745del (p.Gly1582AsnfsTer13)
c.4537_4538del (p.Gly1513AsnfsTer13)
c.1240_1241del (p.Gly414AsnfsTer13)
c.1285_1286del (p.Gly429AsnfsTer13)
c.4741_4742del (p.Gly1581AsnfsTer13)
c.1065_1066del
c.1252_1253del (p.Gly418AsnfsTer13)
c.*4461_*4462del (n.*4461_*4462del)
c.991_992del (p.Gly331AsnfsTer13)
c.5-7285_5-7284del (n.5-7285_5-7284del)
c.151_152del (p.Gly51AsnfsTer13)
c.-98-21046_-98-21045del (n.-98-21046_-98-21045del)
n.4814_4815del
n.4855_4856del
 ClinVar dbSNP
17g.43071235_43071238delinsCCCTCA2260773039BRCA1c.4673_4676delinsAGGG (p.Glu1558=)
c.4676_4679delinsAGGG (p.Glu1559=)
c.4550_4553delinsAGGG (p.Glu1517=)
c.4670_4673delinsAGGG (p.Glu1557=)
c.4598_4601delinsAGGG (p.Glu1533=)
c.1364_1367delinsAGGG (p.Glu455=)
c.1226_1229delinsAGGG (p.Glu409=)
c.3788_3791delinsAGGG (p.Glu1263=)
c.4553_4556delinsAGGG (p.Glu1518=)
c.4742_4745delinsAGGG (p.Glu1581=)
c.4535_4538delinsAGGG (p.Glu1512=)
c.1238_1241delinsAGGG (p.Glu413=)
c.1283_1286delinsAGGG (p.Glu428=)
c.4739_4742delinsAGGG (p.Glu1580=)
c.1063_1066delinsAGGG
c.1250_1253delinsAGGG (p.Glu417=)
c.*4459_*4462delinsAGGG (n.*4459_*4462delinsAGGG)
c.989_992delinsAGGG (p.Glu330=)
c.5-7287_5-7284delinsAGGG (n.5-7287_5-7284delinsAGGG)
c.149_152delinsAGGG (p.Glu50=)
c.-98-21048_-98-21045delinsAGGG (n.-98-21048_-98-21045delinsAGGG)
n.4812_4815delinsAGGG
n.4853_4856delinsAGGG
17g.43071236C>ACA002973BRCA1c.4675G>T (p.Gly1559Ter)
c.4678G>T (p.Gly1560Ter)
c.4552G>T (p.Gly1518Ter)
c.4672G>T (p.Gly1558Ter)
c.4600G>T (p.Gly1534Ter)
c.1366G>T (p.Gly456Ter)
c.1228G>T (p.Gly410Ter)
c.3790G>T (p.Gly1264Ter)
c.4555G>T (p.Gly1519Ter)
c.4744G>T (p.Gly1582Ter)
c.4537G>T (p.Gly1513Ter)
c.1240G>T (p.Gly414Ter)
c.1285G>T (p.Gly429Ter)
c.4741G>T (p.Gly1581Ter)
c.1065G>T
c.1252G>T (p.Gly418Ter)
c.*4461G>T (n.*4461G>T)
c.991G>T (p.Gly331Ter)
c.5-7285G>T (n.5-7285G>T)
c.151G>T (p.Gly51Ter)
c.-98-21046G>T (n.-98-21046G>T)
n.4814G>T
n.4855G>T
 ClinVar dbSNP
17g.43071236C=CA2260773041BRCA1c.4675G= (p.Gly1559=)
c.4678G= (p.Gly1560=)
c.4552G= (p.Gly1518=)
c.4672G= (p.Gly1558=)
c.4600G= (p.Gly1534=)
c.1366G= (p.Gly456=)
c.1228G= (p.Gly410=)
c.3790G= (p.Gly1264=)
c.4555G= (p.Gly1519=)
c.4744G= (p.Gly1582=)
c.4537G= (p.Gly1513=)
c.1240G= (p.Gly414=)
c.1285G= (p.Gly429=)
c.4741G= (p.Gly1581=)
c.1065G=
c.1252G= (p.Gly418=)
c.*4461G= (n.*4461G=)
c.991G= (p.Gly331=)
c.5-7285G= (n.5-7285G=)
c.151G= (p.Gly51=)
c.-98-21046G= (n.-98-21046G=)
n.4814G=
n.4855G=
17g.43071236C>GCA10592149BRCA1c.4675G>C (p.Gly1559Arg)
c.4678G>C (p.Gly1560Arg)
c.4552G>C (p.Gly1518Arg)
c.4672G>C (p.Gly1558Arg)
c.4600G>C (p.Gly1534Arg)
c.1366G>C (p.Gly456Arg)
c.1228G>C (p.Gly410Arg)
c.3790G>C (p.Gly1264Arg)
c.4555G>C (p.Gly1519Arg)
c.4744G>C (p.Gly1582Arg)
c.4537G>C (p.Gly1513Arg)
c.1240G>C (p.Gly414Arg)
c.1285G>C (p.Gly429Arg)
c.4741G>C (p.Gly1581Arg)
c.1065G>C
c.1252G>C (p.Gly418Arg)
c.*4461G>C (n.*4461G>C)
c.991G>C (p.Gly331Arg)
c.5-7285G>C (n.5-7285G>C)
c.151G>C (p.Gly51Arg)
c.-98-21046G>C (n.-98-21046G>C)
n.4814G>C
n.4855G>C
 dbSNP
17g.43071236C>TCA10592150BRCA1c.4675G>A (p.Gly1559Arg)
c.4678G>A (p.Gly1560Arg)
c.4552G>A (p.Gly1518Arg)
c.4672G>A (p.Gly1558Arg)
c.4600G>A (p.Gly1534Arg)
c.1366G>A (p.Gly456Arg)
c.1228G>A (p.Gly410Arg)
c.3790G>A (p.Gly1264Arg)
c.4555G>A (p.Gly1519Arg)
c.4744G>A (p.Gly1582Arg)
c.4537G>A (p.Gly1513Arg)
c.1240G>A (p.Gly414Arg)
c.1285G>A (p.Gly429Arg)
c.4741G>A (p.Gly1581Arg)
c.1065G>A
c.1252G>A (p.Gly418Arg)
c.*4461G>A (n.*4461G>A)
c.991G>A (p.Gly331Arg)
c.5-7285G>A (n.5-7285G>A)
c.151G>A (p.Gly51Arg)
c.-98-21046G>A (n.-98-21046G>A)
n.4814G>A
n.4855G>A
 dbSNP
17g.43071237_43071239delCA658798838BRCA1c.4673_4675del
c.4676_4678del
c.4550_4552del
c.4670_4672del
c.4598_4600del
c.1364_1366del
c.1226_1228del
c.3788_3790del
c.4553_4555del
c.4742_4744del
c.4535_4537del
c.1238_1240del
c.1283_1285del
c.4739_4741del
c.1063_1065del
c.1250_1252del
c.*4459_*4461del
c.989_991del
c.5-7287_5-7285del (n.5-7287_5-7285del)
c.149_151del
c.-98-21048_-98-21046del (n.-98-21048_-98-21046del)
n.4812_4814del
n.4853_4855del
 ClinVar dbSNP
17g.43071237C>ACA10592151BRCA1c.4674G>T (p.Glu1558Asp)
c.4677G>T (p.Glu1559Asp)
c.4551G>T (p.Glu1517Asp)
c.4671G>T (p.Glu1557Asp)
c.4599G>T (p.Glu1533Asp)
c.1365G>T (p.Glu455Asp)
c.1227G>T (p.Glu409Asp)
c.3789G>T (p.Glu1263Asp)
c.4554G>T (p.Glu1518Asp)
c.4743G>T (p.Glu1581Asp)
c.4536G>T (p.Glu1512Asp)
c.1239G>T (p.Glu413Asp)
c.1284G>T (p.Glu428Asp)
c.4740G>T (p.Glu1580Asp)
c.1064G>T
c.1251G>T (p.Glu417Asp)
c.*4460G>T (n.*4460G>T)
c.990G>T (p.Glu330Asp)
c.5-7286G>T (n.5-7286G>T)
c.150G>T (p.Glu50Asp)
c.-98-21047G>T (n.-98-21047G>T)
n.4813G>T
n.4854G>T
 dbSNP
17g.43071237C=CA2260773042BRCA1c.4674G= (p.Glu1558=)
c.4677G= (p.Glu1559=)
c.4551G= (p.Glu1517=)
c.4671G= (p.Glu1557=)
c.4599G= (p.Glu1533=)
c.1365G= (p.Glu455=)
c.1227G= (p.Glu409=)
c.3789G= (p.Glu1263=)
c.4554G= (p.Glu1518=)
c.4743G= (p.Glu1581=)
c.4536G= (p.Glu1512=)
c.1239G= (p.Glu413=)
c.1284G= (p.Glu428=)
c.4740G= (p.Glu1580=)
c.1064G=
c.1251G= (p.Glu417=)
c.*4460G= (n.*4460G=)
c.990G= (p.Glu330=)
c.5-7286G= (n.5-7286G=)
c.150G= (p.Glu50=)
c.-98-21047G= (n.-98-21047G=)
n.4813G=
n.4854G=
17g.43071237C>GCA002972BRCA1c.4674G>C (p.Glu1558Asp)
c.4677G>C (p.Glu1559Asp)
c.4551G>C (p.Glu1517Asp)
c.4671G>C (p.Glu1557Asp)
c.4599G>C (p.Glu1533Asp)
c.1365G>C (p.Glu455Asp)
c.1227G>C (p.Glu409Asp)
c.3789G>C (p.Glu1263Asp)
c.4554G>C (p.Glu1518Asp)
c.4743G>C (p.Glu1581Asp)
c.4536G>C (p.Glu1512Asp)
c.1239G>C (p.Glu413Asp)
c.1284G>C (p.Glu428Asp)
c.4740G>C (p.Glu1580Asp)
c.1064G>C
c.1251G>C (p.Glu417Asp)
c.*4460G>C (n.*4460G>C)
c.990G>C (p.Glu330Asp)
c.5-7286G>C (n.5-7286G>C)
c.150G>C (p.Glu50Asp)
c.-98-21047G>C (n.-98-21047G>C)
n.4813G>C
n.4854G>C
 ClinVar dbSNP gnomAD v4
17g.43071237C>TCA500231908BRCA1c.4674G>A (p.Glu1558=)
c.4677G>A (p.Glu1559=)
c.4551G>A (p.Glu1517=)
c.4671G>A (p.Glu1557=)
c.4599G>A (p.Glu1533=)
c.1365G>A (p.Glu455=)
c.1227G>A (p.Glu409=)
c.3789G>A (p.Glu1263=)
c.4554G>A (p.Glu1518=)
c.4743G>A (p.Glu1581=)
c.4536G>A (p.Glu1512=)
c.1239G>A (p.Glu413=)
c.1284G>A (p.Glu428=)
c.4740G>A (p.Glu1580=)
c.1064G>A
c.1251G>A (p.Glu417=)
c.*4460G>A (n.*4460G>A)
c.990G>A (p.Glu330=)
c.5-7286G>A (n.5-7286G>A)
c.150G>A (p.Glu50=)
c.-98-21047G>A (n.-98-21047G>A)
n.4813G>A
n.4854G>A
 dbSNP
17g.43071238T>ACA10592152BRCA1c.4673A>T (p.Glu1558Val)
c.4676A>T (p.Glu1559Val)
c.4550A>T (p.Glu1517Val)
c.4670A>T (p.Glu1557Val)
c.4598A>T (p.Glu1533Val)
c.1364A>T (p.Glu455Val)
c.1226A>T (p.Glu409Val)
c.3788A>T (p.Glu1263Val)
c.4553A>T (p.Glu1518Val)
c.4742A>T (p.Glu1581Val)
c.4535A>T (p.Glu1512Val)
c.1238A>T (p.Glu413Val)
c.1283A>T (p.Glu428Val)
c.4739A>T (p.Glu1580Val)
c.1063A>T
c.1250A>T (p.Glu417Val)
c.*4459A>T (n.*4459A>T)
c.989A>T (p.Glu330Val)
c.5-7287A>T (n.5-7287A>T)
c.149A>T (p.Glu50Val)
c.-98-21048A>T (n.-98-21048A>T)
n.4812A>T
n.4853A>T
 ClinVar dbSNP gnomAD v4
17g.43071238T>CCA10592153BRCA1c.4673A>G (p.Glu1558Gly)
c.4676A>G (p.Glu1559Gly)
c.4550A>G (p.Glu1517Gly)
c.4670A>G (p.Glu1557Gly)
c.4598A>G (p.Glu1533Gly)
c.1364A>G (p.Glu455Gly)
c.1226A>G (p.Glu409Gly)
c.3788A>G (p.Glu1263Gly)
c.4553A>G (p.Glu1518Gly)
c.4742A>G (p.Glu1581Gly)
c.4535A>G (p.Glu1512Gly)
c.1238A>G (p.Glu413Gly)
c.1283A>G (p.Glu428Gly)
c.4739A>G (p.Glu1580Gly)
c.1063A>G
c.1250A>G (p.Glu417Gly)
c.*4459A>G (n.*4459A>G)
c.989A>G (p.Glu330Gly)
c.5-7287A>G (n.5-7287A>G)
c.149A>G (p.Glu50Gly)
c.-98-21048A>G (n.-98-21048A>G)
n.4812A>G
n.4853A>G
 dbSNP
17g.43071238T>GCA10592154BRCA1c.4673A>C (p.Glu1558Ala)
c.4676A>C (p.Glu1559Ala)
c.4550A>C (p.Glu1517Ala)
c.4670A>C (p.Glu1557Ala)
c.4598A>C (p.Glu1533Ala)
c.1364A>C (p.Glu455Ala)
c.1226A>C (p.Glu409Ala)
c.3788A>C (p.Glu1263Ala)
c.4553A>C (p.Glu1518Ala)
c.4742A>C (p.Glu1581Ala)
c.4535A>C (p.Glu1512Ala)
c.1238A>C (p.Glu413Ala)
c.1283A>C (p.Glu428Ala)
c.4739A>C (p.Glu1580Ala)
c.1063A>C
c.1250A>C (p.Glu417Ala)
c.*4459A>C (n.*4459A>C)
c.989A>C (p.Glu330Ala)
c.5-7287A>C (n.5-7287A>C)
c.149A>C (p.Glu50Ala)
c.-98-21048A>C (n.-98-21048A>C)
n.4812A>C
n.4853A>C
17g.43071238dupCA916084313BRCA1c.4673dup (p.Thr1560AsnfsTer13)
c.4676dup (p.Thr1561AsnfsTer13)
c.4550dup (p.Thr1519AsnfsTer13)
c.4670dup (p.Thr1559AsnfsTer13)
c.4598dup (p.Thr1535AsnfsTer13)
c.1364dup (p.Thr457AsnfsTer13)
c.1226dup (p.Thr411AsnfsTer13)
c.3788dup (p.Thr1265AsnfsTer13)
c.4553dup (p.Thr1520AsnfsTer13)
c.4742dup (p.Thr1583AsnfsTer13)
c.4535dup (p.Thr1514AsnfsTer13)
c.1238dup (p.Thr415AsnfsTer13)
c.1283dup (p.Thr430AsnfsTer13)
c.4739dup (p.Thr1582AsnfsTer13)
c.1063dup
c.1250dup (p.Thr419AsnfsTer13)
c.*4459dup (n.*4459dup)
c.989dup (p.Thr332AsnfsTer13)
c.5-7287dup (n.5-7287dup)
c.149dup (p.Thr52AsnfsTer13)
c.-98-21048dup (n.-98-21048dup)
n.4812dup
n.4853dup
17g.43071239C>ACA10592155BRCA1c.4673-1G>T (n.4673-1G>T)
c.4676-1G>T (n.4676-1G>T)
c.4550-1G>T (n.4550-1G>T)
c.4670-1G>T (n.4670-1G>T)
c.4598-1G>T (n.4598-1G>T)
c.1364-1G>T (n.1364-1G>T)
c.1226-1G>T (n.1226-1G>T)
c.3788-1G>T (n.3788-1G>T)
c.4553-1G>T (n.4553-1G>T)
c.4742-1G>T (n.4742-1G>T)
c.4535-1G>T (n.4535-1G>T)
c.1238-1G>T (n.1238-1G>T)
c.1283-1G>T (n.1283-1G>T)
c.4739-1G>T (n.4739-1G>T)
c.1063-1G>T
c.1250-1G>T (n.1250-1G>T)
c.*4459-1G>T (n.*4459-1G>T)
c.989-1G>T (n.989-1G>T)
c.5-7288G>T (n.5-7288G>T)
c.149-1G>T (n.149-1G>T)
c.-98-21049G>T (n.-98-21049G>T)
n.4812-1G>T
n.4853-1G>T
 ClinVar dbSNP
17g.43071239C=CA2260773043BRCA1c.4673-1G= (n.4673-1G=)
c.4676-1G= (n.4676-1G=)
c.4550-1G= (n.4550-1G=)
c.4670-1G= (n.4670-1G=)
c.4598-1G= (n.4598-1G=)
c.1364-1G= (n.1364-1G=)
c.1226-1G= (n.1226-1G=)
c.3788-1G= (n.3788-1G=)
c.4553-1G= (n.4553-1G=)
c.4742-1G= (n.4742-1G=)
c.4535-1G= (n.4535-1G=)
c.1238-1G= (n.1238-1G=)
c.1283-1G= (n.1283-1G=)
c.4739-1G= (n.4739-1G=)
c.1063-1G=
c.1250-1G= (n.1250-1G=)
c.*4459-1G= (n.*4459-1G=)
c.989-1G= (n.989-1G=)
c.5-7288G= (n.5-7288G=)
c.149-1G= (n.149-1G=)
c.-98-21049G= (n.-98-21049G=)
n.4812-1G=
n.4853-1G=
17g.43071239C>GCA10592156BRCA1c.4673-1G>C (n.4673-1G>C)
c.4676-1G>C (n.4676-1G>C)
c.4550-1G>C (n.4550-1G>C)
c.4670-1G>C (n.4670-1G>C)
c.4598-1G>C (n.4598-1G>C)
c.1364-1G>C (n.1364-1G>C)
c.1226-1G>C (n.1226-1G>C)
c.3788-1G>C (n.3788-1G>C)
c.4553-1G>C (n.4553-1G>C)
c.4742-1G>C (n.4742-1G>C)
c.4535-1G>C (n.4535-1G>C)
c.1238-1G>C (n.1238-1G>C)
c.1283-1G>C (n.1283-1G>C)
c.4739-1G>C (n.4739-1G>C)
c.1063-1G>C
c.1250-1G>C (n.1250-1G>C)
c.*4459-1G>C (n.*4459-1G>C)
c.989-1G>C (n.989-1G>C)
c.5-7288G>C (n.5-7288G>C)
c.149-1G>C (n.149-1G>C)
c.-98-21049G>C (n.-98-21049G>C)
n.4812-1G>C
n.4853-1G>C
 ClinVar dbSNP
17g.43071239C>TCA002968BRCA1c.4673-1G>A (n.4673-1G>A)
c.4676-1G>A (n.4676-1G>A)
c.4550-1G>A (n.4550-1G>A)
c.4670-1G>A (n.4670-1G>A)
c.4598-1G>A (n.4598-1G>A)
c.1364-1G>A (n.1364-1G>A)
c.1226-1G>A (n.1226-1G>A)
c.3788-1G>A (n.3788-1G>A)
c.4553-1G>A (n.4553-1G>A)
c.4742-1G>A (n.4742-1G>A)
c.4535-1G>A (n.4535-1G>A)
c.1238-1G>A (n.1238-1G>A)
c.1283-1G>A (n.1283-1G>A)
c.4739-1G>A (n.4739-1G>A)
c.1063-1G>A
c.1250-1G>A (n.1250-1G>A)
c.*4459-1G>A (n.*4459-1G>A)
c.989-1G>A (n.989-1G>A)
c.5-7288G>A (n.5-7288G>A)
c.149-1G>A (n.149-1G>A)
c.-98-21049G>A (n.-98-21049G>A)
n.4812-1G>A
n.4853-1G>A
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
17g.43071240T>ACA10592157BRCA1c.4673-2A>T (n.4673-2A>T)
c.4676-2A>T (n.4676-2A>T)
c.4550-2A>T (n.4550-2A>T)
c.4670-2A>T (n.4670-2A>T)
c.4598-2A>T (n.4598-2A>T)
c.1364-2A>T (n.1364-2A>T)
c.1226-2A>T (n.1226-2A>T)
c.3788-2A>T (n.3788-2A>T)
c.4553-2A>T (n.4553-2A>T)
c.4742-2A>T (n.4742-2A>T)
c.4535-2A>T (n.4535-2A>T)
c.1238-2A>T (n.1238-2A>T)
c.1283-2A>T (n.1283-2A>T)
c.4739-2A>T (n.4739-2A>T)
c.1063-2A>T
c.1250-2A>T (n.1250-2A>T)
c.*4459-2A>T (n.*4459-2A>T)
c.989-2A>T (n.989-2A>T)
c.5-7289A>T (n.5-7289A>T)
c.149-2A>T (n.149-2A>T)
c.-98-21050A>T (n.-98-21050A>T)
n.4812-2A>T
n.4853-2A>T
 dbSNP
17g.43071240T>CCA002969BRCA1c.4673-2A>G (n.4673-2A>G)
c.4676-2A>G (n.4676-2A>G)
c.4550-2A>G (n.4550-2A>G)
c.4670-2A>G (n.4670-2A>G)
c.4598-2A>G (n.4598-2A>G)
c.1364-2A>G (n.1364-2A>G)
c.1226-2A>G (n.1226-2A>G)
c.3788-2A>G (n.3788-2A>G)
c.4553-2A>G (n.4553-2A>G)
c.4742-2A>G (n.4742-2A>G)
c.4535-2A>G (n.4535-2A>G)
c.1238-2A>G (n.1238-2A>G)
c.1283-2A>G (n.1283-2A>G)
c.4739-2A>G (n.4739-2A>G)
c.1063-2A>G
c.1250-2A>G (n.1250-2A>G)
c.*4459-2A>G (n.*4459-2A>G)
c.989-2A>G (n.989-2A>G)
c.5-7289A>G (n.5-7289A>G)
c.149-2A>G (n.149-2A>G)
c.-98-21050A>G (n.-98-21050A>G)
n.4812-2A>G
n.4853-2A>G
 ClinVar dbSNP
17g.43071240T>GCA10592158BRCA1c.4673-2A>C (n.4673-2A>C)
c.4676-2A>C (n.4676-2A>C)
c.4550-2A>C (n.4550-2A>C)
c.4670-2A>C (n.4670-2A>C)
c.4598-2A>C (n.4598-2A>C)
c.1364-2A>C (n.1364-2A>C)
c.1226-2A>C (n.1226-2A>C)
c.3788-2A>C (n.3788-2A>C)
c.4553-2A>C (n.4553-2A>C)
c.4742-2A>C (n.4742-2A>C)
c.4535-2A>C (n.4535-2A>C)
c.1238-2A>C (n.1238-2A>C)
c.1283-2A>C (n.1283-2A>C)
c.4739-2A>C (n.4739-2A>C)
c.1063-2A>C
c.1250-2A>C (n.1250-2A>C)
c.*4459-2A>C (n.*4459-2A>C)
c.989-2A>C (n.989-2A>C)
c.5-7289A>C (n.5-7289A>C)
c.149-2A>C (n.149-2A>C)
c.-98-21050A>C (n.-98-21050A>C)
n.4812-2A>C
n.4853-2A>C
 ClinVar dbSNP
17g.43071240T=CA2260773044BRCA1c.4673-2A= (n.4673-2A=)
c.4676-2A= (n.4676-2A=)
c.4550-2A= (n.4550-2A=)
c.4670-2A= (n.4670-2A=)
c.4598-2A= (n.4598-2A=)
c.1364-2A= (n.1364-2A=)
c.1226-2A= (n.1226-2A=)
c.3788-2A= (n.3788-2A=)
c.4553-2A= (n.4553-2A=)
c.4742-2A= (n.4742-2A=)
c.4535-2A= (n.4535-2A=)
c.1238-2A= (n.1238-2A=)
c.1283-2A= (n.1283-2A=)
c.4739-2A= (n.4739-2A=)
c.1063-2A=
c.1250-2A= (n.1250-2A=)
c.*4459-2A= (n.*4459-2A=)
c.989-2A= (n.989-2A=)
c.5-7289A= (n.5-7289A=)
c.149-2A= (n.149-2A=)
c.-98-21050A= (n.-98-21050A=)
n.4812-2A=
n.4853-2A=
17g.43071241G>ACA1139665583BRCA1c.4673-3C>T (n.4673-3C>T)
c.4676-3C>T (n.4676-3C>T)
c.4550-3C>T (n.4550-3C>T)
c.4670-3C>T (n.4670-3C>T)
c.4598-3C>T (n.4598-3C>T)
c.1364-3C>T (n.1364-3C>T)
c.1226-3C>T (n.1226-3C>T)
c.3788-3C>T (n.3788-3C>T)
c.4553-3C>T (n.4553-3C>T)
c.4742-3C>T (n.4742-3C>T)
c.4535-3C>T (n.4535-3C>T)
c.1238-3C>T (n.1238-3C>T)
c.1283-3C>T (n.1283-3C>T)
c.4739-3C>T (n.4739-3C>T)
c.1063-3C>T
c.1250-3C>T (n.1250-3C>T)
c.*4459-3C>T (n.*4459-3C>T)
c.989-3C>T (n.989-3C>T)
c.5-7290C>T (n.5-7290C>T)
c.149-3C>T (n.149-3C>T)
c.-98-21051C>T (n.-98-21051C>T)
n.4812-3C>T
n.4853-3C>T
 ClinVar dbSNP
17g.43071241G>CCA1139665584BRCA1c.4673-3C>G (n.4673-3C>G)
c.4676-3C>G (n.4676-3C>G)
c.4550-3C>G (n.4550-3C>G)
c.4670-3C>G (n.4670-3C>G)
c.4598-3C>G (n.4598-3C>G)
c.1364-3C>G (n.1364-3C>G)
c.1226-3C>G (n.1226-3C>G)
c.3788-3C>G (n.3788-3C>G)
c.4553-3C>G (n.4553-3C>G)
c.4742-3C>G (n.4742-3C>G)
c.4535-3C>G (n.4535-3C>G)
c.1238-3C>G (n.1238-3C>G)
c.1283-3C>G (n.1283-3C>G)
c.4739-3C>G (n.4739-3C>G)
c.1063-3C>G
c.1250-3C>G (n.1250-3C>G)
c.*4459-3C>G (n.*4459-3C>G)
c.989-3C>G (n.989-3C>G)
c.5-7290C>G (n.5-7290C>G)
c.149-3C>G (n.149-3C>G)
c.-98-21051C>G (n.-98-21051C>G)
n.4812-3C>G
n.4853-3C>G
 ClinVar dbSNP
17g.43071241G=CA2260773045BRCA1c.4673-3C= (n.4673-3C=)
c.4676-3C= (n.4676-3C=)
c.4550-3C= (n.4550-3C=)
c.4670-3C= (n.4670-3C=)
c.4598-3C= (n.4598-3C=)
c.1364-3C= (n.1364-3C=)
c.1226-3C= (n.1226-3C=)
c.3788-3C= (n.3788-3C=)
c.4553-3C= (n.4553-3C=)
c.4742-3C= (n.4742-3C=)
c.4535-3C= (n.4535-3C=)
c.1238-3C= (n.1238-3C=)
c.1283-3C= (n.1283-3C=)
c.4739-3C= (n.4739-3C=)
c.1063-3C=
c.1250-3C= (n.1250-3C=)
c.*4459-3C= (n.*4459-3C=)
c.989-3C= (n.989-3C=)
c.5-7290C= (n.5-7290C=)
c.149-3C= (n.149-3C=)
c.-98-21051C= (n.-98-21051C=)
n.4812-3C=
n.4853-3C=
17g.43071243A>TCA2733916912BRCA1c.4673-5T>A (n.4673-5T>A)
c.4676-5T>A (n.4676-5T>A)
c.4550-5T>A (n.4550-5T>A)
c.4670-5T>A (n.4670-5T>A)
c.4598-5T>A (n.4598-5T>A)
c.1364-5T>A (n.1364-5T>A)
c.1226-5T>A (n.1226-5T>A)
c.3788-5T>A (n.3788-5T>A)
c.4553-5T>A (n.4553-5T>A)
c.4742-5T>A (n.4742-5T>A)
c.4535-5T>A (n.4535-5T>A)
c.1238-5T>A (n.1238-5T>A)
c.1283-5T>A (n.1283-5T>A)
c.4739-5T>A (n.4739-5T>A)
c.1063-5T>A
c.1250-5T>A (n.1250-5T>A)
c.*4459-5T>A (n.*4459-5T>A)
c.989-5T>A (n.989-5T>A)
c.5-7292T>A (n.5-7292T>A)
c.149-5T>A (n.149-5T>A)
c.-98-21053T>A (n.-98-21053T>A)
n.4812-5T>A
n.4853-5T>A
 dbSNP
17g.43071244A=CA2260773046BRCA1c.4673-6T= (n.4673-6T=)
c.4676-6T= (n.4676-6T=)
c.4550-6T= (n.4550-6T=)
c.4670-6T= (n.4670-6T=)
c.4598-6T= (n.4598-6T=)
c.1364-6T= (n.1364-6T=)
c.1226-6T= (n.1226-6T=)
c.3788-6T= (n.3788-6T=)
c.4553-6T= (n.4553-6T=)
c.4742-6T= (n.4742-6T=)
c.4535-6T= (n.4535-6T=)
c.1238-6T= (n.1238-6T=)
c.1283-6T= (n.1283-6T=)
c.4739-6T= (n.4739-6T=)
c.1063-6T=
c.1250-6T= (n.1250-6T=)
c.*4459-6T= (n.*4459-6T=)
c.989-6T= (n.989-6T=)
c.5-7293T= (n.5-7293T=)
c.149-6T= (n.149-6T=)
c.-98-21054T= (n.-98-21054T=)
n.4812-6T=
n.4853-6T=
17g.43071244A>GCA290832083BRCA1c.4673-6T>C (n.4673-6T>C)
c.4676-6T>C (n.4676-6T>C)
c.4550-6T>C (n.4550-6T>C)
c.4670-6T>C (n.4670-6T>C)
c.4598-6T>C (n.4598-6T>C)
c.1364-6T>C (n.1364-6T>C)
c.1226-6T>C (n.1226-6T>C)
c.3788-6T>C (n.3788-6T>C)
c.4553-6T>C (n.4553-6T>C)
c.4742-6T>C (n.4742-6T>C)
c.4535-6T>C (n.4535-6T>C)
c.1238-6T>C (n.1238-6T>C)
c.1283-6T>C (n.1283-6T>C)
c.4739-6T>C (n.4739-6T>C)
c.1063-6T>C
c.1250-6T>C (n.1250-6T>C)
c.*4459-6T>C (n.*4459-6T>C)
c.989-6T>C (n.989-6T>C)
c.5-7293T>C (n.5-7293T>C)
c.149-6T>C (n.149-6T>C)
c.-98-21054T>C (n.-98-21054T>C)
n.4812-6T>C
n.4853-6T>C
 dbSNP gnomAD v3 gnomAD v4
17g.43071244A>TCA2733643018BRCA1c.4673-6T>A (n.4673-6T>A)
c.4676-6T>A (n.4676-6T>A)
c.4550-6T>A (n.4550-6T>A)
c.4670-6T>A (n.4670-6T>A)
c.4598-6T>A (n.4598-6T>A)
c.1364-6T>A (n.1364-6T>A)
c.1226-6T>A (n.1226-6T>A)
c.3788-6T>A (n.3788-6T>A)
c.4553-6T>A (n.4553-6T>A)
c.4742-6T>A (n.4742-6T>A)
c.4535-6T>A (n.4535-6T>A)
c.1238-6T>A (n.1238-6T>A)
c.1283-6T>A (n.1283-6T>A)
c.4739-6T>A (n.4739-6T>A)
c.1063-6T>A
c.1250-6T>A (n.1250-6T>A)
c.*4459-6T>A (n.*4459-6T>A)
c.989-6T>A (n.989-6T>A)
c.5-7293T>A (n.5-7293T>A)
c.149-6T>A (n.149-6T>A)
c.-98-21054T>A (n.-98-21054T>A)
n.4812-6T>A
n.4853-6T>A
 dbSNP
17g.43071245G>ACA002970BRCA1c.4673-7C>T (n.4673-7C>T)
c.4676-7C>T (n.4676-7C>T)
c.4550-7C>T (n.4550-7C>T)
c.4670-7C>T (n.4670-7C>T)
c.4598-7C>T (n.4598-7C>T)
c.1364-7C>T (n.1364-7C>T)
c.1226-7C>T (n.1226-7C>T)
c.3788-7C>T (n.3788-7C>T)
c.4553-7C>T (n.4553-7C>T)
c.4742-7C>T (n.4742-7C>T)
c.4535-7C>T (n.4535-7C>T)
c.1238-7C>T (n.1238-7C>T)
c.1283-7C>T (n.1283-7C>T)
c.4739-7C>T (n.4739-7C>T)
c.1063-7C>T
c.1250-7C>T (n.1250-7C>T)
c.*4459-7C>T (n.*4459-7C>T)
c.989-7C>T (n.989-7C>T)
c.5-7294C>T (n.5-7294C>T)
c.149-7C>T (n.149-7C>T)
c.-98-21055C>T (n.-98-21055C>T)
n.4812-7C>T
n.4853-7C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43071245G=CA2260773047BRCA1c.4673-7C= (n.4673-7C=)
c.4676-7C= (n.4676-7C=)
c.4550-7C= (n.4550-7C=)
c.4670-7C= (n.4670-7C=)
c.4598-7C= (n.4598-7C=)
c.1364-7C= (n.1364-7C=)
c.1226-7C= (n.1226-7C=)
c.3788-7C= (n.3788-7C=)
c.4553-7C= (n.4553-7C=)
c.4742-7C= (n.4742-7C=)
c.4535-7C= (n.4535-7C=)
c.1238-7C= (n.1238-7C=)
c.1283-7C= (n.1283-7C=)
c.4739-7C= (n.4739-7C=)
c.1063-7C=
c.1250-7C= (n.1250-7C=)
c.*4459-7C= (n.*4459-7C=)
c.989-7C= (n.989-7C=)
c.5-7294C= (n.5-7294C=)
c.149-7C= (n.149-7C=)
c.-98-21055C= (n.-98-21055C=)
n.4812-7C=
n.4853-7C=
17g.43071246G>ACA2573154040BRCA1c.4673-8C>T (n.4673-8C>T)
c.4676-8C>T (n.4676-8C>T)
c.4550-8C>T (n.4550-8C>T)
c.4670-8C>T (n.4670-8C>T)
c.4598-8C>T (n.4598-8C>T)
c.1364-8C>T (n.1364-8C>T)
c.1226-8C>T (n.1226-8C>T)
c.3788-8C>T (n.3788-8C>T)
c.4553-8C>T (n.4553-8C>T)
c.4742-8C>T (n.4742-8C>T)
c.4535-8C>T (n.4535-8C>T)
c.1238-8C>T (n.1238-8C>T)
c.1283-8C>T (n.1283-8C>T)
c.4739-8C>T (n.4739-8C>T)
c.1063-8C>T
c.1250-8C>T (n.1250-8C>T)
c.*4459-8C>T (n.*4459-8C>T)
c.989-8C>T (n.989-8C>T)
c.5-7295C>T (n.5-7295C>T)
c.149-8C>T (n.149-8C>T)
c.-98-21056C>T (n.-98-21056C>T)
n.4812-8C>T
n.4853-8C>T
 ClinVar dbSNP gnomAD v4
17g.43071246G>CCA002971BRCA1c.4673-8C>G (n.4673-8C>G)
c.4676-8C>G (n.4676-8C>G)
c.4550-8C>G (n.4550-8C>G)
c.4670-8C>G (n.4670-8C>G)
c.4598-8C>G (n.4598-8C>G)
c.1364-8C>G (n.1364-8C>G)
c.1226-8C>G (n.1226-8C>G)
c.3788-8C>G (n.3788-8C>G)
c.4553-8C>G (n.4553-8C>G)
c.4742-8C>G (n.4742-8C>G)
c.4535-8C>G (n.4535-8C>G)
c.1238-8C>G (n.1238-8C>G)
c.1283-8C>G (n.1283-8C>G)
c.4739-8C>G (n.4739-8C>G)
c.1063-8C>G
c.1250-8C>G (n.1250-8C>G)
c.*4459-8C>G (n.*4459-8C>G)
c.989-8C>G (n.989-8C>G)
c.5-7295C>G (n.5-7295C>G)
c.149-8C>G (n.149-8C>G)
c.-98-21056C>G (n.-98-21056C>G)
n.4812-8C>G
n.4853-8C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43071246G=CA2260773048BRCA1c.4673-8C= (n.4673-8C=)
c.4676-8C= (n.4676-8C=)
c.4550-8C= (n.4550-8C=)
c.4670-8C= (n.4670-8C=)
c.4598-8C= (n.4598-8C=)
c.1364-8C= (n.1364-8C=)
c.1226-8C= (n.1226-8C=)
c.3788-8C= (n.3788-8C=)
c.4553-8C= (n.4553-8C=)
c.4742-8C= (n.4742-8C=)
c.4535-8C= (n.4535-8C=)
c.1238-8C= (n.1238-8C=)
c.1283-8C= (n.1283-8C=)
c.4739-8C= (n.4739-8C=)
c.1063-8C=
c.1250-8C= (n.1250-8C=)
c.*4459-8C= (n.*4459-8C=)
c.989-8C= (n.989-8C=)
c.5-7295C= (n.5-7295C=)
c.149-8C= (n.149-8C=)
c.-98-21056C= (n.-98-21056C=)
n.4812-8C=
n.4853-8C=
17g.43071246G>TCA2580094193BRCA1c.4673-8C>A (n.4673-8C>A)
c.4676-8C>A (n.4676-8C>A)
c.4550-8C>A (n.4550-8C>A)
c.4670-8C>A (n.4670-8C>A)
c.4598-8C>A (n.4598-8C>A)
c.1364-8C>A (n.1364-8C>A)
c.1226-8C>A (n.1226-8C>A)
c.3788-8C>A (n.3788-8C>A)
c.4553-8C>A (n.4553-8C>A)
c.4742-8C>A (n.4742-8C>A)
c.4535-8C>A (n.4535-8C>A)
c.1238-8C>A (n.1238-8C>A)
c.1283-8C>A (n.1283-8C>A)
c.4739-8C>A (n.4739-8C>A)
c.1063-8C>A
c.1250-8C>A (n.1250-8C>A)
c.*4459-8C>A (n.*4459-8C>A)
c.989-8C>A (n.989-8C>A)
c.5-7295C>A (n.5-7295C>A)
c.149-8C>A (n.149-8C>A)
c.-98-21056C>A (n.-98-21056C>A)
n.4812-8C>A
n.4853-8C>A
 ClinVar
17g.43071248A=CA2260773049BRCA1c.4673-10T= (n.4673-10T=)
c.4676-10T= (n.4676-10T=)
c.4550-10T= (n.4550-10T=)
c.4670-10T= (n.4670-10T=)
c.4598-10T= (n.4598-10T=)
c.1364-10T= (n.1364-10T=)
c.1226-10T= (n.1226-10T=)
c.3788-10T= (n.3788-10T=)
c.4553-10T= (n.4553-10T=)
c.4742-10T= (n.4742-10T=)
c.4535-10T= (n.4535-10T=)
c.1238-10T= (n.1238-10T=)
c.1283-10T= (n.1283-10T=)
c.4739-10T= (n.4739-10T=)
c.1063-10T=
c.1250-10T= (n.1250-10T=)
c.*4459-10T= (n.*4459-10T=)
c.989-10T= (n.989-10T=)
c.5-7297T= (n.5-7297T=)
c.149-10T= (n.149-10T=)
c.-98-21058T= (n.-98-21058T=)
n.4812-10T=
n.4853-10T=
17g.43071248A>TCA002965BRCA1c.4673-10T>A (n.4673-10T>A)
c.4676-10T>A (n.4676-10T>A)
c.4550-10T>A (n.4550-10T>A)
c.4670-10T>A (n.4670-10T>A)
c.4598-10T>A (n.4598-10T>A)
c.1364-10T>A (n.1364-10T>A)
c.1226-10T>A (n.1226-10T>A)
c.3788-10T>A (n.3788-10T>A)
c.4553-10T>A (n.4553-10T>A)
c.4742-10T>A (n.4742-10T>A)
c.4535-10T>A (n.4535-10T>A)
c.1238-10T>A (n.1238-10T>A)
c.1283-10T>A (n.1283-10T>A)
c.4739-10T>A (n.4739-10T>A)
c.1063-10T>A
c.1250-10T>A (n.1250-10T>A)
c.*4459-10T>A (n.*4459-10T>A)
c.989-10T>A (n.989-10T>A)
c.5-7297T>A (n.5-7297T>A)
c.149-10T>A (n.149-10T>A)
c.-98-21058T>A (n.-98-21058T>A)
n.4812-10T>A
n.4853-10T>A
 ClinVar dbSNP
17g.43071249T>ACA2733641863BRCA1c.4673-11A>T (n.4673-11A>T)
c.4676-11A>T (n.4676-11A>T)
c.4550-11A>T (n.4550-11A>T)
c.4670-11A>T (n.4670-11A>T)
c.4598-11A>T (n.4598-11A>T)
c.1364-11A>T (n.1364-11A>T)
c.1226-11A>T (n.1226-11A>T)
c.3788-11A>T (n.3788-11A>T)
c.4553-11A>T (n.4553-11A>T)
c.4742-11A>T (n.4742-11A>T)
c.4535-11A>T (n.4535-11A>T)
c.1238-11A>T (n.1238-11A>T)
c.1283-11A>T (n.1283-11A>T)
c.4739-11A>T (n.4739-11A>T)
c.1063-11A>T
c.1250-11A>T (n.1250-11A>T)
c.*4459-11A>T (n.*4459-11A>T)
c.989-11A>T (n.989-11A>T)
c.5-7298A>T (n.5-7298A>T)
c.149-11A>T (n.149-11A>T)
c.-98-21059A>T (n.-98-21059A>T)
n.4812-11A>T
n.4853-11A>T
 dbSNP
17g.43071249T>CCA002966BRCA1c.4673-11A>G (n.4673-11A>G)
c.4676-11A>G (n.4676-11A>G)
c.4550-11A>G (n.4550-11A>G)
c.4670-11A>G (n.4670-11A>G)
c.4598-11A>G (n.4598-11A>G)
c.1364-11A>G (n.1364-11A>G)
c.1226-11A>G (n.1226-11A>G)
c.3788-11A>G (n.3788-11A>G)
c.4553-11A>G (n.4553-11A>G)
c.4742-11A>G (n.4742-11A>G)
c.4535-11A>G (n.4535-11A>G)
c.1238-11A>G (n.1238-11A>G)
c.1283-11A>G (n.1283-11A>G)
c.4739-11A>G (n.4739-11A>G)
c.1063-11A>G
c.1250-11A>G (n.1250-11A>G)
c.*4459-11A>G (n.*4459-11A>G)
c.989-11A>G (n.989-11A>G)
c.5-7298A>G (n.5-7298A>G)
c.149-11A>G (n.149-11A>G)
c.-98-21059A>G (n.-98-21059A>G)
n.4812-11A>G
n.4853-11A>G
 ClinVar dbSNP gnomAD v4
17g.43071249T>GCA2580094195BRCA1c.4673-11A>C (n.4673-11A>C)
c.4676-11A>C (n.4676-11A>C)
c.4550-11A>C (n.4550-11A>C)
c.4670-11A>C (n.4670-11A>C)
c.4598-11A>C (n.4598-11A>C)
c.1364-11A>C (n.1364-11A>C)
c.1226-11A>C (n.1226-11A>C)
c.3788-11A>C (n.3788-11A>C)
c.4553-11A>C (n.4553-11A>C)
c.4742-11A>C (n.4742-11A>C)
c.4535-11A>C (n.4535-11A>C)
c.1238-11A>C (n.1238-11A>C)
c.1283-11A>C (n.1283-11A>C)
c.4739-11A>C (n.4739-11A>C)
c.1063-11A>C
c.1250-11A>C (n.1250-11A>C)
c.*4459-11A>C (n.*4459-11A>C)
c.989-11A>C (n.989-11A>C)
c.5-7298A>C (n.5-7298A>C)
c.149-11A>C (n.149-11A>C)
c.-98-21059A>C (n.-98-21059A>C)
n.4812-11A>C
n.4853-11A>C
 ClinVar
17g.43071249T=CA2260773050BRCA1c.4673-11A= (n.4673-11A=)
c.4676-11A= (n.4676-11A=)
c.4550-11A= (n.4550-11A=)
c.4670-11A= (n.4670-11A=)
c.4598-11A= (n.4598-11A=)
c.1364-11A= (n.1364-11A=)
c.1226-11A= (n.1226-11A=)
c.3788-11A= (n.3788-11A=)
c.4553-11A= (n.4553-11A=)
c.4742-11A= (n.4742-11A=)
c.4535-11A= (n.4535-11A=)
c.1238-11A= (n.1238-11A=)
c.1283-11A= (n.1283-11A=)
c.4739-11A= (n.4739-11A=)
c.1063-11A=
c.1250-11A= (n.1250-11A=)
c.*4459-11A= (n.*4459-11A=)
c.989-11A= (n.989-11A=)
c.5-7298A= (n.5-7298A=)
c.149-11A= (n.149-11A=)
c.-98-21059A= (n.-98-21059A=)
n.4812-11A=
n.4853-11A=
17g.43071250G>ACA772170681BRCA1c.4673-12C>T (n.4673-12C>T)
c.4676-12C>T (n.4676-12C>T)
c.4550-12C>T (n.4550-12C>T)
c.4670-12C>T (n.4670-12C>T)
c.4598-12C>T (n.4598-12C>T)
c.1364-12C>T (n.1364-12C>T)
c.1226-12C>T (n.1226-12C>T)
c.3788-12C>T (n.3788-12C>T)
c.4553-12C>T (n.4553-12C>T)
c.4742-12C>T (n.4742-12C>T)
c.4535-12C>T (n.4535-12C>T)
c.1238-12C>T (n.1238-12C>T)
c.1283-12C>T (n.1283-12C>T)
c.4739-12C>T (n.4739-12C>T)
c.1063-12C>T
c.1250-12C>T (n.1250-12C>T)
c.*4459-12C>T (n.*4459-12C>T)
c.989-12C>T (n.989-12C>T)
c.5-7299C>T (n.5-7299C>T)
c.149-12C>T (n.149-12C>T)
c.-98-21060C>T (n.-98-21060C>T)
n.4812-12C>T
n.4853-12C>T
 dbSNP gnomAD v3 gnomAD v4
17g.43071250G=CA2260773051BRCA1c.4673-12C= (n.4673-12C=)
c.4676-12C= (n.4676-12C=)
c.4550-12C= (n.4550-12C=)
c.4670-12C= (n.4670-12C=)
c.4598-12C= (n.4598-12C=)
c.1364-12C= (n.1364-12C=)
c.1226-12C= (n.1226-12C=)
c.3788-12C= (n.3788-12C=)
c.4553-12C= (n.4553-12C=)
c.4742-12C= (n.4742-12C=)
c.4535-12C= (n.4535-12C=)
c.1238-12C= (n.1238-12C=)
c.1283-12C= (n.1283-12C=)
c.4739-12C= (n.4739-12C=)
c.1063-12C=
c.1250-12C= (n.1250-12C=)
c.*4459-12C= (n.*4459-12C=)
c.989-12C= (n.989-12C=)
c.5-7299C= (n.5-7299C=)
c.149-12C= (n.149-12C=)
c.-98-21060C= (n.-98-21060C=)
n.4812-12C=
n.4853-12C=
17g.43071252dupCA290832119BRCA1c.4673-12dup (n.4673-12dup)
c.4676-12dup (n.4676-12dup)
c.4550-12dup (n.4550-12dup)
c.4670-12dup (n.4670-12dup)
c.4598-12dup (n.4598-12dup)
c.1364-12dup (n.1364-12dup)
c.1226-12dup (n.1226-12dup)
c.3788-12dup (n.3788-12dup)
c.4553-12dup (n.4553-12dup)
c.4742-12dup (n.4742-12dup)
c.4535-12dup (n.4535-12dup)
c.1238-12dup (n.1238-12dup)
c.1283-12dup (n.1283-12dup)
c.4739-12dup (n.4739-12dup)
c.1063-12dup
c.1250-12dup (n.1250-12dup)
c.*4459-12dup (n.*4459-12dup)
c.989-12dup (n.989-12dup)
c.5-7299dup (n.5-7299dup)
c.149-12dup (n.149-12dup)
c.-98-21060dup (n.-98-21060dup)
n.4812-12dup
n.4853-12dup
 dbSNP
17g.43071251G>ACA2733916993BRCA1c.4673-13C>T (n.4673-13C>T)
c.4676-13C>T (n.4676-13C>T)
c.4550-13C>T (n.4550-13C>T)
c.4670-13C>T (n.4670-13C>T)
c.4598-13C>T (n.4598-13C>T)
c.1364-13C>T (n.1364-13C>T)
c.1226-13C>T (n.1226-13C>T)
c.3788-13C>T (n.3788-13C>T)
c.4553-13C>T (n.4553-13C>T)
c.4742-13C>T (n.4742-13C>T)
c.4535-13C>T (n.4535-13C>T)
c.1238-13C>T (n.1238-13C>T)
c.1283-13C>T (n.1283-13C>T)
c.4739-13C>T (n.4739-13C>T)
c.1063-13C>T
c.1250-13C>T (n.1250-13C>T)
c.*4459-13C>T (n.*4459-13C>T)
c.989-13C>T (n.989-13C>T)
c.5-7300C>T (n.5-7300C>T)
c.149-13C>T (n.149-13C>T)
c.-98-21061C>T (n.-98-21061C>T)
n.4812-13C>T
n.4853-13C>T
 dbSNP
17g.43071251G>CCA2638062648BRCA1c.4673-13C>G (n.4673-13C>G)
c.4676-13C>G (n.4676-13C>G)
c.4550-13C>G (n.4550-13C>G)
c.4670-13C>G (n.4670-13C>G)
c.4598-13C>G (n.4598-13C>G)
c.1364-13C>G (n.1364-13C>G)
c.1226-13C>G (n.1226-13C>G)
c.3788-13C>G (n.3788-13C>G)
c.4553-13C>G (n.4553-13C>G)
c.4742-13C>G (n.4742-13C>G)
c.4535-13C>G (n.4535-13C>G)
c.1238-13C>G (n.1238-13C>G)
c.1283-13C>G (n.1283-13C>G)
c.4739-13C>G (n.4739-13C>G)
c.1063-13C>G
c.1250-13C>G (n.1250-13C>G)
c.*4459-13C>G (n.*4459-13C>G)
c.989-13C>G (n.989-13C>G)
c.5-7300C>G (n.5-7300C>G)
c.149-13C>G (n.149-13C>G)
c.-98-21061C>G (n.-98-21061C>G)
n.4812-13C>G
n.4853-13C>G
 ClinVar dbSNP gnomAD v4
17g.43071251G>TCA2809538937BRCA1c.4673-13C>A (n.4673-13C>A)
c.4676-13C>A (n.4676-13C>A)
c.4550-13C>A (n.4550-13C>A)
c.4670-13C>A (n.4670-13C>A)
c.4598-13C>A (n.4598-13C>A)
c.1364-13C>A (n.1364-13C>A)
c.1226-13C>A (n.1226-13C>A)
c.3788-13C>A (n.3788-13C>A)
c.4553-13C>A (n.4553-13C>A)
c.4742-13C>A (n.4742-13C>A)
c.4535-13C>A (n.4535-13C>A)
c.1238-13C>A (n.1238-13C>A)
c.1283-13C>A (n.1283-13C>A)
c.4739-13C>A (n.4739-13C>A)
c.1063-13C>A
c.1250-13C>A (n.1250-13C>A)
c.*4459-13C>A (n.*4459-13C>A)
c.989-13C>A (n.989-13C>A)
c.5-7300C>A (n.5-7300C>A)
c.149-13C>A (n.149-13C>A)
c.-98-21061C>A (n.-98-21061C>A)
n.4812-13C>A
n.4853-13C>A
17g.43071252G>ACA2733917017BRCA1c.4673-14C>T (n.4673-14C>T)
c.4676-14C>T (n.4676-14C>T)
c.4550-14C>T (n.4550-14C>T)
c.4670-14C>T (n.4670-14C>T)
c.4598-14C>T (n.4598-14C>T)
c.1364-14C>T (n.1364-14C>T)
c.1226-14C>T (n.1226-14C>T)
c.3788-14C>T (n.3788-14C>T)
c.4553-14C>T (n.4553-14C>T)
c.4742-14C>T (n.4742-14C>T)
c.4535-14C>T (n.4535-14C>T)
c.1238-14C>T (n.1238-14C>T)
c.1283-14C>T (n.1283-14C>T)
c.4739-14C>T (n.4739-14C>T)
c.1063-14C>T
c.1250-14C>T (n.1250-14C>T)
c.*4459-14C>T (n.*4459-14C>T)
c.989-14C>T (n.989-14C>T)
c.5-7301C>T (n.5-7301C>T)
c.149-14C>T (n.149-14C>T)
c.-98-21062C>T (n.-98-21062C>T)
n.4812-14C>T
n.4853-14C>T
 dbSNP
17g.43071252G>CCA2733917047BRCA1c.4673-14C>G (n.4673-14C>G)
c.4676-14C>G (n.4676-14C>G)
c.4550-14C>G (n.4550-14C>G)
c.4670-14C>G (n.4670-14C>G)
c.4598-14C>G (n.4598-14C>G)
c.1364-14C>G (n.1364-14C>G)
c.1226-14C>G (n.1226-14C>G)
c.3788-14C>G (n.3788-14C>G)
c.4553-14C>G (n.4553-14C>G)
c.4742-14C>G (n.4742-14C>G)
c.4535-14C>G (n.4535-14C>G)
c.1238-14C>G (n.1238-14C>G)
c.1283-14C>G (n.1283-14C>G)
c.4739-14C>G (n.4739-14C>G)
c.1063-14C>G
c.1250-14C>G (n.1250-14C>G)
c.*4459-14C>G (n.*4459-14C>G)
c.989-14C>G (n.989-14C>G)
c.5-7301C>G (n.5-7301C>G)
c.149-14C>G (n.149-14C>G)
c.-98-21062C>G (n.-98-21062C>G)
n.4812-14C>G
n.4853-14C>G
 dbSNP
17g.43071253A>GCA2733917049BRCA1c.4673-15T>C (n.4673-15T>C)
c.4676-15T>C (n.4676-15T>C)
c.4550-15T>C (n.4550-15T>C)
c.4670-15T>C (n.4670-15T>C)
c.4598-15T>C (n.4598-15T>C)
c.1364-15T>C (n.1364-15T>C)
c.1226-15T>C (n.1226-15T>C)
c.3788-15T>C (n.3788-15T>C)
c.4553-15T>C (n.4553-15T>C)
c.4742-15T>C (n.4742-15T>C)
c.4535-15T>C (n.4535-15T>C)
c.1238-15T>C (n.1238-15T>C)
c.1283-15T>C (n.1283-15T>C)
c.4739-15T>C (n.4739-15T>C)
c.1063-15T>C
c.1250-15T>C (n.1250-15T>C)
c.*4459-15T>C (n.*4459-15T>C)
c.989-15T>C (n.989-15T>C)
c.5-7302T>C (n.5-7302T>C)
c.149-15T>C (n.149-15T>C)
c.-98-21063T>C (n.-98-21063T>C)
n.4812-15T>C
n.4853-15T>C
 dbSNP
17g.43071253A>TCA656361225BRCA1c.4673-15T>A (n.4673-15T>A)
c.4676-15T>A (n.4676-15T>A)
c.4550-15T>A (n.4550-15T>A)
c.4670-15T>A (n.4670-15T>A)
c.4598-15T>A (n.4598-15T>A)
c.1364-15T>A (n.1364-15T>A)
c.1226-15T>A (n.1226-15T>A)
c.3788-15T>A (n.3788-15T>A)
c.4553-15T>A (n.4553-15T>A)
c.4742-15T>A (n.4742-15T>A)
c.4535-15T>A (n.4535-15T>A)
c.1238-15T>A (n.1238-15T>A)
c.1283-15T>A (n.1283-15T>A)
c.4739-15T>A (n.4739-15T>A)
c.1063-15T>A
c.1250-15T>A (n.1250-15T>A)
c.*4459-15T>A (n.*4459-15T>A)
c.989-15T>A (n.989-15T>A)
c.5-7302T>A (n.5-7302T>A)
c.149-15T>A (n.149-15T>A)
c.-98-21063T>A (n.-98-21063T>A)
n.4812-15T>A
n.4853-15T>A
 COSMIC
17g.43071254G>ACA2580094196BRCA1c.4673-16C>T (n.4673-16C>T)
c.4676-16C>T (n.4676-16C>T)
c.4550-16C>T (n.4550-16C>T)
c.4670-16C>T (n.4670-16C>T)
c.4598-16C>T (n.4598-16C>T)
c.1364-16C>T (n.1364-16C>T)
c.1226-16C>T (n.1226-16C>T)
c.3788-16C>T (n.3788-16C>T)
c.4553-16C>T (n.4553-16C>T)
c.4742-16C>T (n.4742-16C>T)
c.4535-16C>T (n.4535-16C>T)
c.1238-16C>T (n.1238-16C>T)
c.1283-16C>T (n.1283-16C>T)
c.4739-16C>T (n.4739-16C>T)
c.1063-16C>T
c.1250-16C>T (n.1250-16C>T)
c.*4459-16C>T (n.*4459-16C>T)
c.989-16C>T (n.989-16C>T)
c.5-7303C>T (n.5-7303C>T)
c.149-16C>T (n.149-16C>T)
c.-98-21064C>T (n.-98-21064C>T)
n.4812-16C>T
n.4853-16C>T
 ClinVar dbSNP
17g.43071254G>CCA002967BRCA1c.4673-16C>G (n.4673-16C>G)
c.4676-16C>G (n.4676-16C>G)
c.4550-16C>G (n.4550-16C>G)
c.4670-16C>G (n.4670-16C>G)
c.4598-16C>G (n.4598-16C>G)
c.1364-16C>G (n.1364-16C>G)
c.1226-16C>G (n.1226-16C>G)
c.3788-16C>G (n.3788-16C>G)
c.4553-16C>G (n.4553-16C>G)
c.4742-16C>G (n.4742-16C>G)
c.4535-16C>G (n.4535-16C>G)
c.1238-16C>G (n.1238-16C>G)
c.1283-16C>G (n.1283-16C>G)
c.4739-16C>G (n.4739-16C>G)
c.1063-16C>G
c.1250-16C>G (n.1250-16C>G)
c.*4459-16C>G (n.*4459-16C>G)
c.989-16C>G (n.989-16C>G)
c.5-7303C>G (n.5-7303C>G)
c.149-16C>G (n.149-16C>G)
c.-98-21064C>G (n.-98-21064C>G)
n.4812-16C>G
n.4853-16C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43071254G=CA2260773052BRCA1c.4673-16C= (n.4673-16C=)
c.4676-16C= (n.4676-16C=)
c.4550-16C= (n.4550-16C=)
c.4670-16C= (n.4670-16C=)
c.4598-16C= (n.4598-16C=)
c.1364-16C= (n.1364-16C=)
c.1226-16C= (n.1226-16C=)
c.3788-16C= (n.3788-16C=)
c.4553-16C= (n.4553-16C=)
c.4742-16C= (n.4742-16C=)
c.4535-16C= (n.4535-16C=)
c.1238-16C= (n.1238-16C=)
c.1283-16C= (n.1283-16C=)
c.4739-16C= (n.4739-16C=)
c.1063-16C=
c.1250-16C= (n.1250-16C=)
c.*4459-16C= (n.*4459-16C=)
c.989-16C= (n.989-16C=)
c.5-7303C= (n.5-7303C=)
c.149-16C= (n.149-16C=)
c.-98-21064C= (n.-98-21064C=)
n.4812-16C=
n.4853-16C=
17g.43071254G>TCA2638062649BRCA1c.4673-16C>A (n.4673-16C>A)
c.4676-16C>A (n.4676-16C>A)
c.4550-16C>A (n.4550-16C>A)
c.4670-16C>A (n.4670-16C>A)
c.4598-16C>A (n.4598-16C>A)
c.1364-16C>A (n.1364-16C>A)
c.1226-16C>A (n.1226-16C>A)
c.3788-16C>A (n.3788-16C>A)
c.4553-16C>A (n.4553-16C>A)
c.4742-16C>A (n.4742-16C>A)
c.4535-16C>A (n.4535-16C>A)
c.1238-16C>A (n.1238-16C>A)
c.1283-16C>A (n.1283-16C>A)
c.4739-16C>A (n.4739-16C>A)
c.1063-16C>A
c.1250-16C>A (n.1250-16C>A)
c.*4459-16C>A (n.*4459-16C>A)
c.989-16C>A (n.989-16C>A)
c.5-7303C>A (n.5-7303C>A)
c.149-16C>A (n.149-16C>A)
c.-98-21064C>A (n.-98-21064C>A)
n.4812-16C>A
n.4853-16C>A
 dbSNP gnomAD v4
17g.43071255A=CA2260773053BRCA1c.4673-17T= (n.4673-17T=)
c.4676-17T= (n.4676-17T=)
c.4550-17T= (n.4550-17T=)
c.4670-17T= (n.4670-17T=)
c.4598-17T= (n.4598-17T=)
c.1364-17T= (n.1364-17T=)
c.1226-17T= (n.1226-17T=)
c.3788-17T= (n.3788-17T=)
c.4553-17T= (n.4553-17T=)
c.4742-17T= (n.4742-17T=)
c.4535-17T= (n.4535-17T=)
c.1238-17T= (n.1238-17T=)
c.1283-17T= (n.1283-17T=)
c.4739-17T= (n.4739-17T=)
c.1063-17T=
c.1250-17T= (n.1250-17T=)
c.*4459-17T= (n.*4459-17T=)
c.989-17T= (n.989-17T=)
c.5-7304T= (n.5-7304T=)
c.149-17T= (n.149-17T=)
c.-98-21065T= (n.-98-21065T=)
n.4812-17T=
n.4853-17T=
17g.43071255A>GCA626221206BRCA1c.4673-17T>C (n.4673-17T>C)
c.4676-17T>C (n.4676-17T>C)
c.4550-17T>C (n.4550-17T>C)
c.4670-17T>C (n.4670-17T>C)
c.4598-17T>C (n.4598-17T>C)
c.1364-17T>C (n.1364-17T>C)
c.1226-17T>C (n.1226-17T>C)
c.3788-17T>C (n.3788-17T>C)
c.4553-17T>C (n.4553-17T>C)
c.4742-17T>C (n.4742-17T>C)
c.4535-17T>C (n.4535-17T>C)
c.1238-17T>C (n.1238-17T>C)
c.1283-17T>C (n.1283-17T>C)
c.4739-17T>C (n.4739-17T>C)
c.1063-17T>C
c.1250-17T>C (n.1250-17T>C)
c.*4459-17T>C (n.*4459-17T>C)
c.989-17T>C (n.989-17T>C)
c.5-7304T>C (n.5-7304T>C)
c.149-17T>C (n.149-17T>C)
c.-98-21065T>C (n.-98-21065T>C)
n.4812-17T>C
n.4853-17T>C
 dbSNP gnomAD v2 gnomAD v4
17g.43071256A>GCA2499224398BRCA1c.4673-18T>C (n.4673-18T>C)
c.4676-18T>C (n.4676-18T>C)
c.4550-18T>C (n.4550-18T>C)
c.4670-18T>C (n.4670-18T>C)
c.4598-18T>C (n.4598-18T>C)
c.1364-18T>C (n.1364-18T>C)
c.1226-18T>C (n.1226-18T>C)
c.3788-18T>C (n.3788-18T>C)
c.4553-18T>C (n.4553-18T>C)
c.4742-18T>C (n.4742-18T>C)
c.4535-18T>C (n.4535-18T>C)
c.1238-18T>C (n.1238-18T>C)
c.1283-18T>C (n.1283-18T>C)
c.4739-18T>C (n.4739-18T>C)
c.1063-18T>C
c.1250-18T>C (n.1250-18T>C)
c.*4459-18T>C (n.*4459-18T>C)
c.989-18T>C (n.989-18T>C)
c.5-7305T>C (n.5-7305T>C)
c.149-18T>C (n.149-18T>C)
c.-98-21066T>C (n.-98-21066T>C)
n.4812-18T>C
n.4853-18T>C
 ClinVar dbSNP gnomAD v4
17g.43071256A>TCA2733917155BRCA1c.4673-18T>A (n.4673-18T>A)
c.4676-18T>A (n.4676-18T>A)
c.4550-18T>A (n.4550-18T>A)
c.4670-18T>A (n.4670-18T>A)
c.4598-18T>A (n.4598-18T>A)
c.1364-18T>A (n.1364-18T>A)
c.1226-18T>A (n.1226-18T>A)
c.3788-18T>A (n.3788-18T>A)
c.4553-18T>A (n.4553-18T>A)
c.4742-18T>A (n.4742-18T>A)
c.4535-18T>A (n.4535-18T>A)
c.1238-18T>A (n.1238-18T>A)
c.1283-18T>A (n.1283-18T>A)
c.4739-18T>A (n.4739-18T>A)
c.1063-18T>A
c.1250-18T>A (n.1250-18T>A)
c.*4459-18T>A (n.*4459-18T>A)
c.989-18T>A (n.989-18T>A)
c.5-7305T>A (n.5-7305T>A)
c.149-18T>A (n.149-18T>A)
c.-98-21066T>A (n.-98-21066T>A)
n.4812-18T>A
n.4853-18T>A
 dbSNP
17g.43071257G>TCA2638062650BRCA1c.4673-19C>A (n.4673-19C>A)
c.4676-19C>A (n.4676-19C>A)
c.4550-19C>A (n.4550-19C>A)
c.4670-19C>A (n.4670-19C>A)
c.4598-19C>A (n.4598-19C>A)
c.1364-19C>A (n.1364-19C>A)
c.1226-19C>A (n.1226-19C>A)
c.3788-19C>A (n.3788-19C>A)
c.4553-19C>A (n.4553-19C>A)
c.4742-19C>A (n.4742-19C>A)
c.4535-19C>A (n.4535-19C>A)
c.1238-19C>A (n.1238-19C>A)
c.1283-19C>A (n.1283-19C>A)
c.4739-19C>A (n.4739-19C>A)
c.1063-19C>A
c.1250-19C>A (n.1250-19C>A)
c.*4459-19C>A (n.*4459-19C>A)
c.989-19C>A (n.989-19C>A)
c.5-7306C>A (n.5-7306C>A)
c.149-19C>A (n.149-19C>A)
c.-98-21067C>A (n.-98-21067C>A)
n.4812-19C>A
n.4853-19C>A
 gnomAD v4
17g.43071258T>ACA2733676564BRCA1c.4673-20A>T (n.4673-20A>T)
c.4676-20A>T (n.4676-20A>T)
c.4550-20A>T (n.4550-20A>T)
c.4670-20A>T (n.4670-20A>T)
c.4598-20A>T (n.4598-20A>T)
c.1364-20A>T (n.1364-20A>T)
c.1226-20A>T (n.1226-20A>T)
c.3788-20A>T (n.3788-20A>T)
c.4553-20A>T (n.4553-20A>T)
c.4742-20A>T (n.4742-20A>T)
c.4535-20A>T (n.4535-20A>T)
c.1238-20A>T (n.1238-20A>T)
c.1283-20A>T (n.1283-20A>T)
c.4739-20A>T (n.4739-20A>T)
c.1063-20A>T
c.1250-20A>T (n.1250-20A>T)
c.*4459-20A>T (n.*4459-20A>T)
c.989-20A>T (n.989-20A>T)
c.5-7307A>T (n.5-7307A>T)
c.149-20A>T (n.149-20A>T)
c.-98-21068A>T (n.-98-21068A>T)
n.4812-20A>T
n.4853-20A>T
 dbSNP
17g.43071258T>CCA2733676565BRCA1c.4673-20A>G (n.4673-20A>G)
c.4676-20A>G (n.4676-20A>G)
c.4550-20A>G (n.4550-20A>G)
c.4670-20A>G (n.4670-20A>G)
c.4598-20A>G (n.4598-20A>G)
c.1364-20A>G (n.1364-20A>G)
c.1226-20A>G (n.1226-20A>G)
c.3788-20A>G (n.3788-20A>G)
c.4553-20A>G (n.4553-20A>G)
c.4742-20A>G (n.4742-20A>G)
c.4535-20A>G (n.4535-20A>G)
c.1238-20A>G (n.1238-20A>G)
c.1283-20A>G (n.1283-20A>G)
c.4739-20A>G (n.4739-20A>G)
c.1063-20A>G
c.1250-20A>G (n.1250-20A>G)
c.*4459-20A>G (n.*4459-20A>G)
c.989-20A>G (n.989-20A>G)
c.5-7307A>G (n.5-7307A>G)
c.149-20A>G (n.149-20A>G)
c.-98-21068A>G (n.-98-21068A>G)
n.4812-20A>G
n.4853-20A>G
 dbSNP
17g.43071258T>GCA913188834BRCA1c.4673-20A>C (n.4673-20A>C)
c.4676-20A>C (n.4676-20A>C)
c.4550-20A>C (n.4550-20A>C)
c.4670-20A>C (n.4670-20A>C)
c.4598-20A>C (n.4598-20A>C)
c.1364-20A>C (n.1364-20A>C)
c.1226-20A>C (n.1226-20A>C)
c.3788-20A>C (n.3788-20A>C)
c.4553-20A>C (n.4553-20A>C)
c.4742-20A>C (n.4742-20A>C)
c.4535-20A>C (n.4535-20A>C)
c.1238-20A>C (n.1238-20A>C)
c.1283-20A>C (n.1283-20A>C)
c.4739-20A>C (n.4739-20A>C)
c.1063-20A>C
c.1250-20A>C (n.1250-20A>C)
c.*4459-20A>C (n.*4459-20A>C)
c.989-20A>C (n.989-20A>C)
c.5-7307A>C (n.5-7307A>C)
c.149-20A>C (n.149-20A>C)
c.-98-21068A>C (n.-98-21068A>C)
n.4812-20A>C
n.4853-20A>C
 ClinVar dbSNP
17g.43071258T=CA2260773054BRCA1c.4673-20A= (n.4673-20A=)
c.4676-20A= (n.4676-20A=)
c.4550-20A= (n.4550-20A=)
c.4670-20A= (n.4670-20A=)
c.4598-20A= (n.4598-20A=)
c.1364-20A= (n.1364-20A=)
c.1226-20A= (n.1226-20A=)
c.3788-20A= (n.3788-20A=)
c.4553-20A= (n.4553-20A=)
c.4742-20A= (n.4742-20A=)
c.4535-20A= (n.4535-20A=)
c.1238-20A= (n.1238-20A=)
c.1283-20A= (n.1283-20A=)
c.4739-20A= (n.4739-20A=)
c.1063-20A=
c.1250-20A= (n.1250-20A=)
c.*4459-20A= (n.*4459-20A=)
c.989-20A= (n.989-20A=)
c.5-7307A= (n.5-7307A=)
c.149-20A= (n.149-20A=)
c.-98-21068A= (n.-98-21068A=)
n.4812-20A=
n.4853-20A=
17g.43071259T>ACA2733917203BRCA1c.4673-21A>T (n.4673-21A>T)
c.4676-21A>T (n.4676-21A>T)
c.4550-21A>T (n.4550-21A>T)
c.4670-21A>T (n.4670-21A>T)
c.4598-21A>T (n.4598-21A>T)
c.1364-21A>T (n.1364-21A>T)
c.1226-21A>T (n.1226-21A>T)
c.3788-21A>T (n.3788-21A>T)
c.4553-21A>T (n.4553-21A>T)
c.4742-21A>T (n.4742-21A>T)
c.4535-21A>T (n.4535-21A>T)
c.1238-21A>T (n.1238-21A>T)
c.1283-21A>T (n.1283-21A>T)
c.4739-21A>T (n.4739-21A>T)
c.1063-21A>T
c.1250-21A>T (n.1250-21A>T)
c.*4459-21A>T (n.*4459-21A>T)
c.989-21A>T (n.989-21A>T)
c.5-7308A>T (n.5-7308A>T)
c.149-21A>T (n.149-21A>T)
c.-98-21069A>T (n.-98-21069A>T)
n.4812-21A>T
n.4853-21A>T
 dbSNP
17g.43071259T>GCA2733917204BRCA1c.4673-21A>C (n.4673-21A>C)
c.4676-21A>C (n.4676-21A>C)
c.4550-21A>C (n.4550-21A>C)
c.4670-21A>C (n.4670-21A>C)
c.4598-21A>C (n.4598-21A>C)
c.1364-21A>C (n.1364-21A>C)
c.1226-21A>C (n.1226-21A>C)
c.3788-21A>C (n.3788-21A>C)
c.4553-21A>C (n.4553-21A>C)
c.4742-21A>C (n.4742-21A>C)
c.4535-21A>C (n.4535-21A>C)
c.1238-21A>C (n.1238-21A>C)
c.1283-21A>C (n.1283-21A>C)
c.4739-21A>C (n.4739-21A>C)
c.1063-21A>C
c.1250-21A>C (n.1250-21A>C)
c.*4459-21A>C (n.*4459-21A>C)
c.989-21A>C (n.989-21A>C)
c.5-7308A>C (n.5-7308A>C)
c.149-21A>C (n.149-21A>C)
c.-98-21069A>C (n.-98-21069A>C)
n.4812-21A>C
n.4853-21A>C
 dbSNP
17g.43071260T>ACA2733917208BRCA1c.4673-22A>T (n.4673-22A>T)
c.4676-22A>T (n.4676-22A>T)
c.4550-22A>T (n.4550-22A>T)
c.4670-22A>T (n.4670-22A>T)
c.4598-22A>T (n.4598-22A>T)
c.1364-22A>T (n.1364-22A>T)
c.1226-22A>T (n.1226-22A>T)
c.3788-22A>T (n.3788-22A>T)
c.4553-22A>T (n.4553-22A>T)
c.4742-22A>T (n.4742-22A>T)
c.4535-22A>T (n.4535-22A>T)
c.1238-22A>T (n.1238-22A>T)
c.1283-22A>T (n.1283-22A>T)
c.4739-22A>T (n.4739-22A>T)
c.1063-22A>T
c.1250-22A>T (n.1250-22A>T)
c.*4459-22A>T (n.*4459-22A>T)
c.989-22A>T (n.989-22A>T)
c.5-7309A>T (n.5-7309A>T)
c.149-22A>T (n.149-22A>T)
c.-98-21070A>T (n.-98-21070A>T)
n.4812-22A>T
n.4853-22A>T
 dbSNP
17g.43071261A>GCA2638062651BRCA1c.4673-23T>C (n.4673-23T>C)
c.4676-23T>C (n.4676-23T>C)
c.4550-23T>C (n.4550-23T>C)
c.4670-23T>C (n.4670-23T>C)
c.4598-23T>C (n.4598-23T>C)
c.1364-23T>C (n.1364-23T>C)
c.1226-23T>C (n.1226-23T>C)
c.3788-23T>C (n.3788-23T>C)
c.4553-23T>C (n.4553-23T>C)
c.4742-23T>C (n.4742-23T>C)
c.4535-23T>C (n.4535-23T>C)
c.1238-23T>C (n.1238-23T>C)
c.1283-23T>C (n.1283-23T>C)
c.4739-23T>C (n.4739-23T>C)
c.1063-23T>C
c.1250-23T>C (n.1250-23T>C)
c.*4459-23T>C (n.*4459-23T>C)
c.989-23T>C (n.989-23T>C)
c.5-7310T>C (n.5-7310T>C)
c.149-23T>C (n.149-23T>C)
c.-98-21071T>C (n.-98-21071T>C)
n.4812-23T>C
n.4853-23T>C
 dbSNP gnomAD v4
17g.43071263T>CCA052720BRCA1c.4673-25A>G (n.4673-25A>G)
c.4676-25A>G (n.4676-25A>G)
c.4550-25A>G (n.4550-25A>G)
c.4670-25A>G (n.4670-25A>G)
c.4598-25A>G (n.4598-25A>G)
c.1364-25A>G (n.1364-25A>G)
c.1226-25A>G (n.1226-25A>G)
c.3788-25A>G (n.3788-25A>G)
c.4553-25A>G (n.4553-25A>G)
c.4742-25A>G (n.4742-25A>G)
c.4535-25A>G (n.4535-25A>G)
c.1238-25A>G (n.1238-25A>G)
c.1283-25A>G (n.1283-25A>G)
c.4739-25A>G (n.4739-25A>G)
c.1063-25A>G
c.1250-25A>G (n.1250-25A>G)
c.*4459-25A>G (n.*4459-25A>G)
c.989-25A>G (n.989-25A>G)
c.5-7312A>G (n.5-7312A>G)
c.149-25A>G (n.149-25A>G)
c.-98-21073A>G (n.-98-21073A>G)
n.4812-25A>G
n.4853-25A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43071263T=CA2260773055BRCA1c.4673-25A= (n.4673-25A=)
c.4676-25A= (n.4676-25A=)
c.4550-25A= (n.4550-25A=)
c.4670-25A= (n.4670-25A=)
c.4598-25A= (n.4598-25A=)
c.1364-25A= (n.1364-25A=)
c.1226-25A= (n.1226-25A=)
c.3788-25A= (n.3788-25A=)
c.4553-25A= (n.4553-25A=)
c.4742-25A= (n.4742-25A=)
c.4535-25A= (n.4535-25A=)
c.1238-25A= (n.1238-25A=)
c.1283-25A= (n.1283-25A=)
c.4739-25A= (n.4739-25A=)
c.1063-25A=
c.1250-25A= (n.1250-25A=)
c.*4459-25A= (n.*4459-25A=)
c.989-25A= (n.989-25A=)
c.5-7312A= (n.5-7312A=)
c.149-25A= (n.149-25A=)
c.-98-21073A= (n.-98-21073A=)
n.4812-25A=
n.4853-25A=
17g.43071264T>ACA2733917218BRCA1c.4673-26A>T (n.4673-26A>T)
c.4676-26A>T (n.4676-26A>T)
c.4550-26A>T (n.4550-26A>T)
c.4670-26A>T (n.4670-26A>T)
c.4598-26A>T (n.4598-26A>T)
c.1364-26A>T (n.1364-26A>T)
c.1226-26A>T (n.1226-26A>T)
c.3788-26A>T (n.3788-26A>T)
c.4553-26A>T (n.4553-26A>T)
c.4742-26A>T (n.4742-26A>T)
c.4535-26A>T (n.4535-26A>T)
c.1238-26A>T (n.1238-26A>T)
c.1283-26A>T (n.1283-26A>T)
c.4739-26A>T (n.4739-26A>T)
c.1063-26A>T
c.1250-26A>T (n.1250-26A>T)
c.*4459-26A>T (n.*4459-26A>T)
c.989-26A>T (n.989-26A>T)
c.5-7313A>T (n.5-7313A>T)
c.149-26A>T (n.149-26A>T)
c.-98-21074A>T (n.-98-21074A>T)
n.4812-26A>T
n.4853-26A>T
 dbSNP
17g.43071264T>CCA2733917214BRCA1c.4673-26A>G (n.4673-26A>G)
c.4676-26A>G (n.4676-26A>G)
c.4550-26A>G (n.4550-26A>G)
c.4670-26A>G (n.4670-26A>G)
c.4598-26A>G (n.4598-26A>G)
c.1364-26A>G (n.1364-26A>G)
c.1226-26A>G (n.1226-26A>G)
c.3788-26A>G (n.3788-26A>G)
c.4553-26A>G (n.4553-26A>G)
c.4742-26A>G (n.4742-26A>G)
c.4535-26A>G (n.4535-26A>G)
c.1238-26A>G (n.1238-26A>G)
c.1283-26A>G (n.1283-26A>G)
c.4739-26A>G (n.4739-26A>G)
c.1063-26A>G
c.1250-26A>G (n.1250-26A>G)
c.*4459-26A>G (n.*4459-26A>G)
c.989-26A>G (n.989-26A>G)
c.5-7313A>G (n.5-7313A>G)
c.149-26A>G (n.149-26A>G)
c.-98-21074A>G (n.-98-21074A>G)
n.4812-26A>G
n.4853-26A>G
 dbSNP
17g.43071264T>GCA2638062652BRCA1c.4673-26A>C (n.4673-26A>C)
c.4676-26A>C (n.4676-26A>C)
c.4550-26A>C (n.4550-26A>C)
c.4670-26A>C (n.4670-26A>C)
c.4598-26A>C (n.4598-26A>C)
c.1364-26A>C (n.1364-26A>C)
c.1226-26A>C (n.1226-26A>C)
c.3788-26A>C (n.3788-26A>C)
c.4553-26A>C (n.4553-26A>C)
c.4742-26A>C (n.4742-26A>C)
c.4535-26A>C (n.4535-26A>C)
c.1238-26A>C (n.1238-26A>C)
c.1283-26A>C (n.1283-26A>C)
c.4739-26A>C (n.4739-26A>C)
c.1063-26A>C
c.1250-26A>C (n.1250-26A>C)
c.*4459-26A>C (n.*4459-26A>C)
c.989-26A>C (n.989-26A>C)
c.5-7313A>C (n.5-7313A>C)
c.149-26A>C (n.149-26A>C)
c.-98-21074A>C (n.-98-21074A>C)
n.4812-26A>C
n.4853-26A>C
 gnomAD v4

Number of alleles fetched