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.43070924_43070926delinsTCACA2260772725BRCA1c.4983+2_4983+4delinsTGA (n.4983+2_4983+4delinsTGA)
c.4986+2_4986+4delinsTGA (n.4986+2_4986+4delinsTGA)
c.4860+2_4860+4delinsTGA (n.4860+2_4860+4delinsTGA)
c.4980+2_4980+4delinsTGA (n.4980+2_4980+4delinsTGA)
c.4908+2_4908+4delinsTGA (n.4908+2_4908+4delinsTGA)
c.1674+2_1674+4delinsTGA (n.1674+2_1674+4delinsTGA)
c.1536+2_1536+4delinsTGA (n.1536+2_1536+4delinsTGA)
c.4098+2_4098+4delinsTGA (n.4098+2_4098+4delinsTGA)
c.4863+2_4863+4delinsTGA (n.4863+2_4863+4delinsTGA)
c.5052+2_5052+4delinsTGA (n.5052+2_5052+4delinsTGA)
c.4845+2_4845+4delinsTGA (n.4845+2_4845+4delinsTGA)
c.1548+2_1548+4delinsTGA (n.1548+2_1548+4delinsTGA)
c.1595_1597delinsTGA (p.Val532=)
c.5049+2_5049+4delinsTGA (n.5049+2_5049+4delinsTGA)
c.1373+2_1373+4delinsTGA
c.1560+2_1560+4delinsTGA (n.1560+2_1560+4delinsTGA)
c.*4769+2_*4769+4delinsTGA (n.*4769+2_*4769+4delinsTGA)
n.139+2_139+4delinsTGA
c.1299+2_1299+4delinsTGA (n.1299+2_1299+4delinsTGA)
c.5-6975_5-6973delinsTGA (n.5-6975_5-6973delinsTGA)
c.459+2_459+4delinsTGA (n.459+2_459+4delinsTGA)
c.-98-20736_-98-20734delinsTGA (n.-98-20736_-98-20734delinsTGA)
n.5122+2_5122+4delinsTGA
n.5163+2_5163+4delinsTGA
17g.43070925C>ACA916080194BRCA1c.4983+3G>T (n.4983+3G>T)
c.4986+3G>T (n.4986+3G>T)
c.4860+3G>T (n.4860+3G>T)
c.4980+3G>T (n.4980+3G>T)
c.4908+3G>T (n.4908+3G>T)
c.1674+3G>T (n.1674+3G>T)
c.1536+3G>T (n.1536+3G>T)
c.4098+3G>T (n.4098+3G>T)
c.4863+3G>T (n.4863+3G>T)
c.5052+3G>T (n.5052+3G>T)
c.4845+3G>T (n.4845+3G>T)
c.1548+3G>T (n.1548+3G>T)
c.1596G>T (p.Val532=)
c.5049+3G>T (n.5049+3G>T)
c.1373+3G>T
c.1560+3G>T (n.1560+3G>T)
c.*4769+3G>T (n.*4769+3G>T)
n.139+3G>T
c.1299+3G>T (n.1299+3G>T)
c.5-6974G>T (n.5-6974G>T)
c.459+3G>T (n.459+3G>T)
c.-98-20735G>T (n.-98-20735G>T)
n.5122+3G>T
n.5163+3G>T
 ClinVar dbSNP
17g.43070925C=CA2260772727BRCA1c.4983+3G= (n.4983+3G=)
c.4986+3G= (n.4986+3G=)
c.4860+3G= (n.4860+3G=)
c.4980+3G= (n.4980+3G=)
c.4908+3G= (n.4908+3G=)
c.1674+3G= (n.1674+3G=)
c.1536+3G= (n.1536+3G=)
c.4098+3G= (n.4098+3G=)
c.4863+3G= (n.4863+3G=)
c.5052+3G= (n.5052+3G=)
c.4845+3G= (n.4845+3G=)
c.1548+3G= (n.1548+3G=)
c.1596G= (p.Val532=)
c.5049+3G= (n.5049+3G=)
c.1373+3G=
c.1560+3G= (n.1560+3G=)
c.*4769+3G= (n.*4769+3G=)
n.139+3G=
c.1299+3G= (n.1299+3G=)
c.5-6974G= (n.5-6974G=)
c.459+3G= (n.459+3G=)
c.-98-20735G= (n.-98-20735G=)
n.5122+3G=
n.5163+3G=
17g.43070925C>GCA003121BRCA1c.4983+3G>C (n.4983+3G>C)
c.4986+3G>C (n.4986+3G>C)
c.4860+3G>C (n.4860+3G>C)
c.4980+3G>C (n.4980+3G>C)
c.4908+3G>C (n.4908+3G>C)
c.1674+3G>C (n.1674+3G>C)
c.1536+3G>C (n.1536+3G>C)
c.4098+3G>C (n.4098+3G>C)
c.4863+3G>C (n.4863+3G>C)
c.5052+3G>C (n.5052+3G>C)
c.4845+3G>C (n.4845+3G>C)
c.1548+3G>C (n.1548+3G>C)
c.1596G>C (p.Val532=)
c.5049+3G>C (n.5049+3G>C)
c.1373+3G>C
c.1560+3G>C (n.1560+3G>C)
c.*4769+3G>C (n.*4769+3G>C)
n.139+3G>C
c.1299+3G>C (n.1299+3G>C)
c.5-6974G>C (n.5-6974G>C)
c.459+3G>C (n.459+3G>C)
c.-98-20735G>C (n.-98-20735G>C)
n.5122+3G>C
n.5163+3G>C
 ClinVar dbSNP
17g.43070925C>TCA916080195BRCA1c.4983+3G>A (n.4983+3G>A)
c.4986+3G>A (n.4986+3G>A)
c.4860+3G>A (n.4860+3G>A)
c.4980+3G>A (n.4980+3G>A)
c.4908+3G>A (n.4908+3G>A)
c.1674+3G>A (n.1674+3G>A)
c.1536+3G>A (n.1536+3G>A)
c.4098+3G>A (n.4098+3G>A)
c.4863+3G>A (n.4863+3G>A)
c.5052+3G>A (n.5052+3G>A)
c.4845+3G>A (n.4845+3G>A)
c.1548+3G>A (n.1548+3G>A)
c.1596G>A (p.Val532=)
c.5049+3G>A (n.5049+3G>A)
c.1373+3G>A
c.1560+3G>A (n.1560+3G>A)
c.*4769+3G>A (n.*4769+3G>A)
n.139+3G>A
c.1299+3G>A (n.1299+3G>A)
c.5-6974G>A (n.5-6974G>A)
c.459+3G>A (n.459+3G>A)
c.-98-20735G>A (n.-98-20735G>A)
n.5122+3G>A
n.5163+3G>A
 ClinVar dbSNP
17g.43070927_43070928delCA645373139BRCA1c.4983+2_4983+3del
c.4986+2_4986+3del
c.4860+2_4860+3del
c.4980+2_4980+3del
c.4908+2_4908+3del
c.1674+2_1674+3del
c.1536+2_1536+3del
c.4098+2_4098+3del
c.4863+2_4863+3del
c.5052+2_5052+3del
c.4845+2_4845+3del
c.1548+2_1548+3del
c.1595_1596del (p.Val532GlufsTer11)
c.5049+2_5049+3del
c.1373+2_1373+3del
c.1560+2_1560+3del
c.*4769+2_*4769+3del
n.139+2_139+3del
c.1299+2_1299+3del
c.5-6975_5-6974del (n.5-6975_5-6974del)
c.459+2_459+3del
c.-98-20736_-98-20735del (n.-98-20736_-98-20735del)
n.5122+2_5122+3del
n.5163+2_5163+3del
 ClinVar dbSNP
17g.43070926A=CA2260772728BRCA1c.4983+2T= (n.4983+2T=)
c.4986+2T= (n.4986+2T=)
c.4860+2T= (n.4860+2T=)
c.4980+2T= (n.4980+2T=)
c.4908+2T= (n.4908+2T=)
c.1674+2T= (n.1674+2T=)
c.1536+2T= (n.1536+2T=)
c.4098+2T= (n.4098+2T=)
c.4863+2T= (n.4863+2T=)
c.5052+2T= (n.5052+2T=)
c.4845+2T= (n.4845+2T=)
c.1548+2T= (n.1548+2T=)
c.1595T= (p.Val532=)
c.5049+2T= (n.5049+2T=)
c.1373+2T=
c.1560+2T= (n.1560+2T=)
c.*4769+2T= (n.*4769+2T=)
n.139+2T=
c.1299+2T= (n.1299+2T=)
c.5-6975T= (n.5-6975T=)
c.459+2T= (n.459+2T=)
c.-98-20736T= (n.-98-20736T=)
n.5122+2T=
n.5163+2T=
17g.43070926A>CCA10591548BRCA1c.4983+2T>G (n.4983+2T>G)
c.4986+2T>G (n.4986+2T>G)
c.4860+2T>G (n.4860+2T>G)
c.4980+2T>G (n.4980+2T>G)
c.4908+2T>G (n.4908+2T>G)
c.1674+2T>G (n.1674+2T>G)
c.1536+2T>G (n.1536+2T>G)
c.4098+2T>G (n.4098+2T>G)
c.4863+2T>G (n.4863+2T>G)
c.5052+2T>G (n.5052+2T>G)
c.4845+2T>G (n.4845+2T>G)
c.1548+2T>G (n.1548+2T>G)
c.1595T>G (p.Val532Gly)
c.5049+2T>G (n.5049+2T>G)
c.1373+2T>G
c.1560+2T>G (n.1560+2T>G)
c.*4769+2T>G (n.*4769+2T>G)
n.139+2T>G
c.1299+2T>G (n.1299+2T>G)
c.5-6975T>G (n.5-6975T>G)
c.459+2T>G (n.459+2T>G)
c.-98-20736T>G (n.-98-20736T>G)
n.5122+2T>G
n.5163+2T>G
 ClinVar dbSNP
17g.43070926A>GCA003120BRCA1c.4983+2T>C (n.4983+2T>C)
c.4986+2T>C (n.4986+2T>C)
c.4860+2T>C (n.4860+2T>C)
c.4980+2T>C (n.4980+2T>C)
c.4908+2T>C (n.4908+2T>C)
c.1674+2T>C (n.1674+2T>C)
c.1536+2T>C (n.1536+2T>C)
c.4098+2T>C (n.4098+2T>C)
c.4863+2T>C (n.4863+2T>C)
c.5052+2T>C (n.5052+2T>C)
c.4845+2T>C (n.4845+2T>C)
c.1548+2T>C (n.1548+2T>C)
c.1595T>C (p.Val532Ala)
c.5049+2T>C (n.5049+2T>C)
c.1373+2T>C
c.1560+2T>C (n.1560+2T>C)
c.*4769+2T>C (n.*4769+2T>C)
n.139+2T>C
c.1299+2T>C (n.1299+2T>C)
c.5-6975T>C (n.5-6975T>C)
c.459+2T>C (n.459+2T>C)
c.-98-20736T>C (n.-98-20736T>C)
n.5122+2T>C
n.5163+2T>C
 ClinVar dbSNP gnomAD v4
17g.43070926A>TCA10591549BRCA1c.4983+2T>A (n.4983+2T>A)
c.4986+2T>A (n.4986+2T>A)
c.4860+2T>A (n.4860+2T>A)
c.4980+2T>A (n.4980+2T>A)
c.4908+2T>A (n.4908+2T>A)
c.1674+2T>A (n.1674+2T>A)
c.1536+2T>A (n.1536+2T>A)
c.4098+2T>A (n.4098+2T>A)
c.4863+2T>A (n.4863+2T>A)
c.5052+2T>A (n.5052+2T>A)
c.4845+2T>A (n.4845+2T>A)
c.1548+2T>A (n.1548+2T>A)
c.1595T>A (p.Val532Glu)
c.5049+2T>A (n.5049+2T>A)
c.1373+2T>A
c.1560+2T>A (n.1560+2T>A)
c.*4769+2T>A (n.*4769+2T>A)
n.139+2T>A
c.1299+2T>A (n.1299+2T>A)
c.5-6975T>A (n.5-6975T>A)
c.459+2T>A (n.459+2T>A)
c.-98-20736T>A (n.-98-20736T>A)
n.5122+2T>A
n.5163+2T>A
 ClinVar dbSNP
17g.43070927C>ACA003119BRCA1c.4983+1G>T (n.4983+1G>T)
c.4986+1G>T (n.4986+1G>T)
c.4860+1G>T (n.4860+1G>T)
c.4980+1G>T (n.4980+1G>T)
c.4908+1G>T (n.4908+1G>T)
c.1674+1G>T (n.1674+1G>T)
c.1536+1G>T (n.1536+1G>T)
c.4098+1G>T (n.4098+1G>T)
c.4863+1G>T (n.4863+1G>T)
c.5052+1G>T (n.5052+1G>T)
c.4845+1G>T (n.4845+1G>T)
c.1548+1G>T (n.1548+1G>T)
c.1594G>T (p.Val532Leu)
c.5049+1G>T (n.5049+1G>T)
c.1373+1G>T
c.1560+1G>T (n.1560+1G>T)
c.*4769+1G>T (n.*4769+1G>T)
n.139+1G>T
c.1299+1G>T (n.1299+1G>T)
c.5-6976G>T (n.5-6976G>T)
c.459+1G>T (n.459+1G>T)
c.-98-20737G>T (n.-98-20737G>T)
n.5122+1G>T
n.5163+1G>T
 ClinVar dbSNP
17g.43070927C=CA2260772729BRCA1c.4983+1G= (n.4983+1G=)
c.4986+1G= (n.4986+1G=)
c.4860+1G= (n.4860+1G=)
c.4980+1G= (n.4980+1G=)
c.4908+1G= (n.4908+1G=)
c.1674+1G= (n.1674+1G=)
c.1536+1G= (n.1536+1G=)
c.4098+1G= (n.4098+1G=)
c.4863+1G= (n.4863+1G=)
c.5052+1G= (n.5052+1G=)
c.4845+1G= (n.4845+1G=)
c.1548+1G= (n.1548+1G=)
c.1594G= (p.Val532=)
c.5049+1G= (n.5049+1G=)
c.1373+1G=
c.1560+1G= (n.1560+1G=)
c.*4769+1G= (n.*4769+1G=)
n.139+1G=
c.1299+1G= (n.1299+1G=)
c.5-6976G= (n.5-6976G=)
c.459+1G= (n.459+1G=)
c.-98-20737G= (n.-98-20737G=)
n.5122+1G=
n.5163+1G=
17g.43070927C>GCA10591550BRCA1c.4983+1G>C (n.4983+1G>C)
c.4986+1G>C (n.4986+1G>C)
c.4860+1G>C (n.4860+1G>C)
c.4980+1G>C (n.4980+1G>C)
c.4908+1G>C (n.4908+1G>C)
c.1674+1G>C (n.1674+1G>C)
c.1536+1G>C (n.1536+1G>C)
c.4098+1G>C (n.4098+1G>C)
c.4863+1G>C (n.4863+1G>C)
c.5052+1G>C (n.5052+1G>C)
c.4845+1G>C (n.4845+1G>C)
c.1548+1G>C (n.1548+1G>C)
c.1594G>C (p.Val532Leu)
c.5049+1G>C (n.5049+1G>C)
c.1373+1G>C
c.1560+1G>C (n.1560+1G>C)
c.*4769+1G>C (n.*4769+1G>C)
n.139+1G>C
c.1299+1G>C (n.1299+1G>C)
c.5-6976G>C (n.5-6976G>C)
c.459+1G>C (n.459+1G>C)
c.-98-20737G>C (n.-98-20737G>C)
n.5122+1G>C
n.5163+1G>C
 ClinVar dbSNP
17g.43070927C>TCA003118BRCA1c.4983+1G>A (n.4983+1G>A)
c.4986+1G>A (n.4986+1G>A)
c.4860+1G>A (n.4860+1G>A)
c.4980+1G>A (n.4980+1G>A)
c.4908+1G>A (n.4908+1G>A)
c.1674+1G>A (n.1674+1G>A)
c.1536+1G>A (n.1536+1G>A)
c.4098+1G>A (n.4098+1G>A)
c.4863+1G>A (n.4863+1G>A)
c.5052+1G>A (n.5052+1G>A)
c.4845+1G>A (n.4845+1G>A)
c.1548+1G>A (n.1548+1G>A)
c.1594G>A (p.Val532Met)
c.5049+1G>A (n.5049+1G>A)
c.1373+1G>A
c.1560+1G>A (n.1560+1G>A)
c.*4769+1G>A (n.*4769+1G>A)
n.139+1G>A
c.1299+1G>A (n.1299+1G>A)
c.5-6976G>A (n.5-6976G>A)
c.459+1G>A (n.459+1G>A)
c.-98-20737G>A (n.-98-20737G>A)
n.5122+1G>A
n.5163+1G>A
 ClinVar dbSNP
17g.43070928A=CA2260772730BRCA1c.4983T= (p.Phe1661=)
c.4986T= (p.Phe1662=)
c.4860T= (p.Phe1620=)
c.4980T= (p.Phe1660=)
c.4908T= (p.Phe1636=)
c.1674T= (p.Phe558=)
c.1536T= (p.Phe512=)
c.4098T= (p.Phe1366=)
c.4863T= (p.Phe1621=)
c.5052T= (p.Phe1684=)
c.4845T= (p.Phe1615=)
c.1548T= (p.Phe516=)
c.1593T= (p.Phe531=)
c.5049T= (p.Phe1683=)
c.1373T=
c.1560T= (p.Phe520=)
c.*4769T= (n.*4769T=)
n.139T=
c.1299T= (p.Phe433=)
c.5-6977T= (n.5-6977T=)
c.459T= (p.Phe153=)
c.-98-20738T= (n.-98-20738T=)
n.5122T=
n.5163T=
17g.43070928A>CCA10591551BRCA1c.4983T>G (p.Phe1661Leu)
c.4986T>G (p.Phe1662Leu)
c.4860T>G (p.Phe1620Leu)
c.4980T>G (p.Phe1660Leu)
c.4908T>G (p.Phe1636Leu)
c.1674T>G (p.Phe558Leu)
c.1536T>G (p.Phe512Leu)
c.4098T>G (p.Phe1366Leu)
c.4863T>G (p.Phe1621Leu)
c.5052T>G (p.Phe1684Leu)
c.4845T>G (p.Phe1615Leu)
c.1548T>G (p.Phe516Leu)
c.1593T>G (p.Phe531Leu)
c.5049T>G (p.Phe1683Leu)
c.1373T>G
c.1560T>G (p.Phe520Leu)
c.*4769T>G (n.*4769T>G)
n.139T>G
c.1299T>G (p.Phe433Leu)
c.5-6977T>G (n.5-6977T>G)
c.459T>G (p.Phe153Leu)
c.-98-20738T>G (n.-98-20738T>G)
n.5122T>G
n.5163T>G
 ClinVar dbSNP
17g.43070928A>GCA500231508BRCA1c.4983T>C (p.Phe1661=)
c.4986T>C (p.Phe1662=)
c.4860T>C (p.Phe1620=)
c.4980T>C (p.Phe1660=)
c.4908T>C (p.Phe1636=)
c.1674T>C (p.Phe558=)
c.1536T>C (p.Phe512=)
c.4098T>C (p.Phe1366=)
c.4863T>C (p.Phe1621=)
c.5052T>C (p.Phe1684=)
c.4845T>C (p.Phe1615=)
c.1548T>C (p.Phe516=)
c.1593T>C (p.Phe531=)
c.5049T>C (p.Phe1683=)
c.1373T>C
c.1560T>C (p.Phe520=)
c.*4769T>C (n.*4769T>C)
n.139T>C
c.1299T>C (p.Phe433=)
c.5-6977T>C (n.5-6977T>C)
c.459T>C (p.Phe153=)
c.-98-20738T>C (n.-98-20738T>C)
n.5122T>C
n.5163T>C
 ClinVar dbSNP
17g.43070928A>TCA10591552BRCA1c.4983T>A (p.Phe1661Leu)
c.4986T>A (p.Phe1662Leu)
c.4860T>A (p.Phe1620Leu)
c.4980T>A (p.Phe1660Leu)
c.4908T>A (p.Phe1636Leu)
c.1674T>A (p.Phe558Leu)
c.1536T>A (p.Phe512Leu)
c.4098T>A (p.Phe1366Leu)
c.4863T>A (p.Phe1621Leu)
c.5052T>A (p.Phe1684Leu)
c.4845T>A (p.Phe1615Leu)
c.1548T>A (p.Phe516Leu)
c.1593T>A (p.Phe531Leu)
c.5049T>A (p.Phe1683Leu)
c.1373T>A
c.1560T>A (p.Phe520Leu)
c.*4769T>A (n.*4769T>A)
n.139T>A
c.1299T>A (p.Phe433Leu)
c.5-6977T>A (n.5-6977T>A)
c.459T>A (p.Phe153Leu)
c.-98-20738T>A (n.-98-20738T>A)
n.5122T>A
n.5163T>A
 ClinVar dbSNP
17g.43070930dupCA658684112BRCA1c.4983dup (p.Met1662TyrfsTer16)
c.4986dup (p.Met1663TyrfsTer16)
c.4860dup (p.Met1621TyrfsTer16)
c.4980dup (p.Met1661TyrfsTer16)
c.4908dup (p.Met1637TyrfsTer16)
c.1674dup (p.Met559TyrfsTer16)
c.1536dup (p.Met513TyrfsTer16)
c.4098dup (p.Met1367TyrfsTer16)
c.4863dup (p.Met1622TyrfsTer16)
c.5052dup (p.Met1685TyrfsTer16)
c.4845dup (p.Met1616TyrfsTer16)
c.1548dup (p.Met517TyrfsTer16)
c.1593dup (p.Val532CysfsTer12)
c.5049dup (p.Met1684TyrfsTer16)
c.1373dup
c.1560dup (p.Met521TyrfsTer16)
c.*4769dup (n.*4769dup)
n.139dup
c.1299dup (p.Met434TyrfsTer16)
c.5-6977dup (n.5-6977dup)
c.459dup (p.Met154TyrfsTer16)
c.-98-20738dup (n.-98-20738dup)
n.5122dup
n.5163dup
 ClinVar dbSNP
17g.43070929A=CA2260772731BRCA1c.4982T= (p.Phe1661=)
c.4985T= (p.Phe1662=)
c.4859T= (p.Phe1620=)
c.4979T= (p.Phe1660=)
c.4907T= (p.Phe1636=)
c.1673T= (p.Phe558=)
c.1535T= (p.Phe512=)
c.4097T= (p.Phe1366=)
c.4862T= (p.Phe1621=)
c.5051T= (p.Phe1684=)
c.4844T= (p.Phe1615=)
c.1547T= (p.Phe516=)
c.1592T= (p.Phe531=)
c.5048T= (p.Phe1683=)
c.1372T=
c.1559T= (p.Phe520=)
c.*4768T= (n.*4768T=)
n.138T=
c.1298T= (p.Phe433=)
c.5-6978T= (n.5-6978T=)
c.458T= (p.Phe153=)
c.-98-20739T= (n.-98-20739T=)
n.5121T=
n.5162T=
17g.43070929A>CCA10591553BRCA1c.4982T>G (p.Phe1661Cys)
c.4985T>G (p.Phe1662Cys)
c.4859T>G (p.Phe1620Cys)
c.4979T>G (p.Phe1660Cys)
c.4907T>G (p.Phe1636Cys)
c.1673T>G (p.Phe558Cys)
c.1535T>G (p.Phe512Cys)
c.4097T>G (p.Phe1366Cys)
c.4862T>G (p.Phe1621Cys)
c.5051T>G (p.Phe1684Cys)
c.4844T>G (p.Phe1615Cys)
c.1547T>G (p.Phe516Cys)
c.1592T>G (p.Phe531Cys)
c.5048T>G (p.Phe1683Cys)
c.1372T>G
c.1559T>G (p.Phe520Cys)
c.*4768T>G (n.*4768T>G)
n.138T>G
c.1298T>G (p.Phe433Cys)
c.5-6978T>G (n.5-6978T>G)
c.458T>G (p.Phe153Cys)
c.-98-20739T>G (n.-98-20739T>G)
n.5121T>G
n.5162T>G
 ClinVar dbSNP gnomAD v4
17g.43070929A>GCA003117BRCA1c.4982T>C (p.Phe1661Ser)
c.4985T>C (p.Phe1662Ser)
c.4859T>C (p.Phe1620Ser)
c.4979T>C (p.Phe1660Ser)
c.4907T>C (p.Phe1636Ser)
c.1673T>C (p.Phe558Ser)
c.1535T>C (p.Phe512Ser)
c.4097T>C (p.Phe1366Ser)
c.4862T>C (p.Phe1621Ser)
c.5051T>C (p.Phe1684Ser)
c.4844T>C (p.Phe1615Ser)
c.1547T>C (p.Phe516Ser)
c.1592T>C (p.Phe531Ser)
c.5048T>C (p.Phe1683Ser)
c.1372T>C
c.1559T>C (p.Phe520Ser)
c.*4768T>C (n.*4768T>C)
n.138T>C
c.1298T>C (p.Phe433Ser)
c.5-6978T>C (n.5-6978T>C)
c.458T>C (p.Phe153Ser)
c.-98-20739T>C (n.-98-20739T>C)
n.5121T>C
n.5162T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43070929A>TCA10591554BRCA1c.4982T>A (p.Phe1661Tyr)
c.4985T>A (p.Phe1662Tyr)
c.4859T>A (p.Phe1620Tyr)
c.4979T>A (p.Phe1660Tyr)
c.4907T>A (p.Phe1636Tyr)
c.1673T>A (p.Phe558Tyr)
c.1535T>A (p.Phe512Tyr)
c.4097T>A (p.Phe1366Tyr)
c.4862T>A (p.Phe1621Tyr)
c.5051T>A (p.Phe1684Tyr)
c.4844T>A (p.Phe1615Tyr)
c.1547T>A (p.Phe516Tyr)
c.1592T>A (p.Phe531Tyr)
c.5048T>A (p.Phe1683Tyr)
c.1372T>A
c.1559T>A (p.Phe520Tyr)
c.*4768T>A (n.*4768T>A)
n.138T>A
c.1298T>A (p.Phe433Tyr)
c.5-6978T>A (n.5-6978T>A)
c.458T>A (p.Phe153Tyr)
c.-98-20739T>A (n.-98-20739T>A)
n.5121T>A
n.5162T>A
 ClinVar dbSNP
17g.43070929_43070948delinsAATTCTTCTGGGGTCAGGCCCA2260772732BRCA1c.4963_4982delinsGGCCTGACCCCAGAAGAATT (p.Gly1655=)
c.4966_4985delinsGGCCTGACCCCAGAAGAATT (p.Gly1656=)
c.4840_4859delinsGGCCTGACCCCAGAAGAATT (p.Gly1614=)
c.4960_4979delinsGGCCTGACCCCAGAAGAATT (p.Gly1654=)
c.4888_4907delinsGGCCTGACCCCAGAAGAATT (p.Gly1630=)
c.1654_1673delinsGGCCTGACCCCAGAAGAATT (p.Gly552=)
c.1516_1535delinsGGCCTGACCCCAGAAGAATT (p.Gly506=)
c.4078_4097delinsGGCCTGACCCCAGAAGAATT (p.Gly1360=)
c.4843_4862delinsGGCCTGACCCCAGAAGAATT (p.Gly1615=)
c.5032_5051delinsGGCCTGACCCCAGAAGAATT (p.Gly1678=)
c.4825_4844delinsGGCCTGACCCCAGAAGAATT (p.Gly1609=)
c.1528_1547delinsGGCCTGACCCCAGAAGAATT (p.Gly510=)
c.1573_1592delinsGGCCTGACCCCAGAAGAATT (p.Gly525=)
c.5029_5048delinsGGCCTGACCCCAGAAGAATT (p.Gly1677=)
c.1353_1372delinsGGCCTGACCCCAGAAGAATT
c.1540_1559delinsGGCCTGACCCCAGAAGAATT (p.Gly514=)
c.*4749_*4768delinsGGCCTGACCCCAGAAGAATT (n.*4749_*4768delinsGGCCTGACCCCAGAAGAATT)
n.119_138delinsGGCCTGACCCCAGAAGAATT
c.1279_1298delinsGGCCTGACCCCAGAAGAATT (p.Gly427=)
c.5-6997_5-6978delinsGGCCTGACCCCAGAAGAATT (n.5-6997_5-6978delinsGGCCTGACCCCAGAAGAATT)
c.439_458delinsGGCCTGACCCCAGAAGAATT (p.Gly147=)
c.-98-20758_-98-20739delinsGGCCTGACCCCAGAAGAATT (n.-98-20758_-98-20739delinsGGCCTGACCCCAGAAGAATT)
n.5102_5121delinsGGCCTGACCCCAGAAGAATT
n.5143_5162delinsGGCCTGACCCCAGAAGAATT
17g.43070930A=CA2260772733BRCA1c.4981T= (p.Phe1661=)
c.4984T= (p.Phe1662=)
c.4858T= (p.Phe1620=)
c.4978T= (p.Phe1660=)
c.4906T= (p.Phe1636=)
c.1672T= (p.Phe558=)
c.1534T= (p.Phe512=)
c.4096T= (p.Phe1366=)
c.4861T= (p.Phe1621=)
c.5050T= (p.Phe1684=)
c.4843T= (p.Phe1615=)
c.1546T= (p.Phe516=)
c.1591T= (p.Phe531=)
c.5047T= (p.Phe1683=)
c.1371T=
c.1558T= (p.Phe520=)
c.*4767T= (n.*4767T=)
n.137T=
c.1297T= (p.Phe433=)
c.5-6979T= (n.5-6979T=)
c.457T= (p.Phe153=)
c.-98-20740T= (n.-98-20740T=)
n.5120T=
n.5161T=
17g.43070930A>CCA10591555BRCA1c.4981T>G (p.Phe1661Val)
c.4984T>G (p.Phe1662Val)
c.4858T>G (p.Phe1620Val)
c.4978T>G (p.Phe1660Val)
c.4906T>G (p.Phe1636Val)
c.1672T>G (p.Phe558Val)
c.1534T>G (p.Phe512Val)
c.4096T>G (p.Phe1366Val)
c.4861T>G (p.Phe1621Val)
c.5050T>G (p.Phe1684Val)
c.4843T>G (p.Phe1615Val)
c.1546T>G (p.Phe516Val)
c.1591T>G (p.Phe531Val)
c.5047T>G (p.Phe1683Val)
c.1371T>G
c.1558T>G (p.Phe520Val)
c.*4767T>G (n.*4767T>G)
n.137T>G
c.1297T>G (p.Phe433Val)
c.5-6979T>G (n.5-6979T>G)
c.457T>G (p.Phe153Val)
c.-98-20740T>G (n.-98-20740T>G)
n.5120T>G
n.5161T>G
 ClinVar dbSNP gnomAD v4
17g.43070930A>GCA10591556BRCA1c.4981T>C (p.Phe1661Leu)
c.4984T>C (p.Phe1662Leu)
c.4858T>C (p.Phe1620Leu)
c.4978T>C (p.Phe1660Leu)
c.4906T>C (p.Phe1636Leu)
c.1672T>C (p.Phe558Leu)
c.1534T>C (p.Phe512Leu)
c.4096T>C (p.Phe1366Leu)
c.4861T>C (p.Phe1621Leu)
c.5050T>C (p.Phe1684Leu)
c.4843T>C (p.Phe1615Leu)
c.1546T>C (p.Phe516Leu)
c.1591T>C (p.Phe531Leu)
c.5047T>C (p.Phe1683Leu)
c.1371T>C
c.1558T>C (p.Phe520Leu)
c.*4767T>C (n.*4767T>C)
n.137T>C
c.1297T>C (p.Phe433Leu)
c.5-6979T>C (n.5-6979T>C)
c.457T>C (p.Phe153Leu)
c.-98-20740T>C (n.-98-20740T>C)
n.5120T>C
n.5161T>C
 ClinVar dbSNP
17g.43070930A>TCA10591557BRCA1c.4981T>A (p.Phe1661Ile)
c.4984T>A (p.Phe1662Ile)
c.4858T>A (p.Phe1620Ile)
c.4978T>A (p.Phe1660Ile)
c.4906T>A (p.Phe1636Ile)
c.1672T>A (p.Phe558Ile)
c.1534T>A (p.Phe512Ile)
c.4096T>A (p.Phe1366Ile)
c.4861T>A (p.Phe1621Ile)
c.5050T>A (p.Phe1684Ile)
c.4843T>A (p.Phe1615Ile)
c.1546T>A (p.Phe516Ile)
c.1591T>A (p.Phe531Ile)
c.5047T>A (p.Phe1683Ile)
c.1371T>A
c.1558T>A (p.Phe520Ile)
c.*4767T>A (n.*4767T>A)
n.137T>A
c.1297T>A (p.Phe433Ile)
c.5-6979T>A (n.5-6979T>A)
c.457T>A (p.Phe153Ile)
c.-98-20740T>A (n.-98-20740T>A)
n.5120T>A
n.5161T>A
 ClinVar dbSNP
17g.43070930_43070933delinsATTCCA2260772734BRCA1c.4978_4981delinsGAAT (p.Glu1660=)
c.4981_4984delinsGAAT (p.Glu1661=)
c.4855_4858delinsGAAT (p.Glu1619=)
c.4975_4978delinsGAAT (p.Glu1659=)
c.4903_4906delinsGAAT (p.Glu1635=)
c.1669_1672delinsGAAT (p.Glu557=)
c.1531_1534delinsGAAT (p.Glu511=)
c.4093_4096delinsGAAT (p.Glu1365=)
c.4858_4861delinsGAAT (p.Glu1620=)
c.5047_5050delinsGAAT (p.Glu1683=)
c.4840_4843delinsGAAT (p.Glu1614=)
c.1543_1546delinsGAAT (p.Glu515=)
c.1588_1591delinsGAAT (p.Glu530=)
c.5044_5047delinsGAAT (p.Glu1682=)
c.1368_1371delinsGAAT
c.1555_1558delinsGAAT (p.Glu519=)
c.*4764_*4767delinsGAAT (n.*4764_*4767delinsGAAT)
n.134_137delinsGAAT
c.1294_1297delinsGAAT (p.Glu432=)
c.5-6982_5-6979delinsGAAT (n.5-6982_5-6979delinsGAAT)
c.454_457delinsGAAT (p.Glu152=)
c.-98-20743_-98-20740delinsGAAT (n.-98-20743_-98-20740delinsGAAT)
n.5117_5120delinsGAAT
n.5158_5161delinsGAAT
17g.43070931_43070949delCA003113BRCA1c.4963_4981del (p.Gly1655LeufsTer15)
c.4966_4984del (p.Gly1656LeufsTer15)
c.4840_4858del (p.Gly1614LeufsTer15)
c.4960_4978del (p.Gly1654LeufsTer15)
c.4888_4906del (p.Gly1630LeufsTer15)
c.1654_1672del (p.Gly552LeufsTer15)
c.1516_1534del (p.Gly506LeufsTer15)
c.4078_4096del (p.Gly1360LeufsTer15)
c.4843_4861del (p.Gly1615LeufsTer15)
c.5032_5050del (p.Gly1678LeufsTer15)
c.4825_4843del (p.Gly1609LeufsTer15)
c.1528_1546del (p.Gly510LeufsTer15)
c.1573_1591del (p.Gly525LeufsTer2)
c.5029_5047del (p.Gly1677LeufsTer15)
c.1353_1371del
c.1540_1558del (p.Gly514LeufsTer15)
c.*4749_*4767del (n.*4749_*4767del)
n.119_137del
c.1279_1297del (p.Gly427LeufsTer15)
c.5-6997_5-6979del (n.5-6997_5-6979del)
c.439_457del (p.Gly147LeufsTer15)
c.-98-20758_-98-20740del (n.-98-20758_-98-20740del)
n.5102_5120del
n.5143_5161del
 ClinVar dbSNP
17g.43070931T>ACA10591558BRCA1c.4980A>T (p.Glu1660Asp)
c.4983A>T (p.Glu1661Asp)
c.4857A>T (p.Glu1619Asp)
c.4977A>T (p.Glu1659Asp)
c.4905A>T (p.Glu1635Asp)
c.1671A>T (p.Glu557Asp)
c.1533A>T (p.Glu511Asp)
c.4095A>T (p.Glu1365Asp)
c.4860A>T (p.Glu1620Asp)
c.5049A>T (p.Glu1683Asp)
c.4842A>T (p.Glu1614Asp)
c.1545A>T (p.Glu515Asp)
c.1590A>T (p.Glu530Asp)
c.5046A>T (p.Glu1682Asp)
c.1370A>T
c.1557A>T (p.Glu519Asp)
c.*4766A>T (n.*4766A>T)
n.136A>T
c.1296A>T (p.Glu432Asp)
c.5-6980A>T (n.5-6980A>T)
c.456A>T (p.Glu152Asp)
c.-98-20741A>T (n.-98-20741A>T)
n.5119A>T
n.5160A>T
 ClinVar dbSNP
17g.43070931T>CCA500231513BRCA1c.4980A>G (p.Glu1660=)
c.4983A>G (p.Glu1661=)
c.4857A>G (p.Glu1619=)
c.4977A>G (p.Glu1659=)
c.4905A>G (p.Glu1635=)
c.1671A>G (p.Glu557=)
c.1533A>G (p.Glu511=)
c.4095A>G (p.Glu1365=)
c.4860A>G (p.Glu1620=)
c.5049A>G (p.Glu1683=)
c.4842A>G (p.Glu1614=)
c.1545A>G (p.Glu515=)
c.1590A>G (p.Glu530=)
c.5046A>G (p.Glu1682=)
c.1370A>G
c.1557A>G (p.Glu519=)
c.*4766A>G (n.*4766A>G)
n.136A>G
c.1296A>G (p.Glu432=)
c.5-6980A>G (n.5-6980A>G)
c.456A>G (p.Glu152=)
c.-98-20741A>G (n.-98-20741A>G)
n.5119A>G
n.5160A>G
 ClinVar dbSNP
17g.43070931T>GCA10591559BRCA1c.4980A>C (p.Glu1660Asp)
c.4983A>C (p.Glu1661Asp)
c.4857A>C (p.Glu1619Asp)
c.4977A>C (p.Glu1659Asp)
c.4905A>C (p.Glu1635Asp)
c.1671A>C (p.Glu557Asp)
c.1533A>C (p.Glu511Asp)
c.4095A>C (p.Glu1365Asp)
c.4860A>C (p.Glu1620Asp)
c.5049A>C (p.Glu1683Asp)
c.4842A>C (p.Glu1614Asp)
c.1545A>C (p.Glu515Asp)
c.1590A>C (p.Glu530Asp)
c.5046A>C (p.Glu1682Asp)
c.1370A>C
c.1557A>C (p.Glu519Asp)
c.*4766A>C (n.*4766A>C)
n.136A>C
c.1296A>C (p.Glu432Asp)
c.5-6980A>C (n.5-6980A>C)
c.456A>C (p.Glu152Asp)
c.-98-20741A>C (n.-98-20741A>C)
n.5119A>C
n.5160A>C
 ClinVar dbSNP
17g.43070931T=CA2260772736BRCA1c.4980A= (p.Glu1660=)
c.4983A= (p.Glu1661=)
c.4857A= (p.Glu1619=)
c.4977A= (p.Glu1659=)
c.4905A= (p.Glu1635=)
c.1671A= (p.Glu557=)
c.1533A= (p.Glu511=)
c.4095A= (p.Glu1365=)
c.4860A= (p.Glu1620=)
c.5049A= (p.Glu1683=)
c.4842A= (p.Glu1614=)
c.1545A= (p.Glu515=)
c.1590A= (p.Glu530=)
c.5046A= (p.Glu1682=)
c.1370A=
c.1557A= (p.Glu519=)
c.*4766A= (n.*4766A=)
n.136A=
c.1296A= (p.Glu432=)
c.5-6980A= (n.5-6980A=)
c.456A= (p.Glu152=)
c.-98-20741A= (n.-98-20741A=)
n.5119A=
n.5160A=
17g.43070935_43070937delCA915950101BRCA1c.4978_4980del (p.Glu1660del)
c.4981_4983del (p.Glu1661del)
c.4855_4857del (p.Glu1619del)
c.4975_4977del (p.Glu1659del)
c.4903_4905del (p.Glu1635del)
c.1669_1671del (p.Glu557del)
c.1531_1533del (p.Glu511del)
c.4093_4095del (p.Glu1365del)
c.4858_4860del (p.Glu1620del)
c.5047_5049del (p.Glu1683del)
c.4840_4842del (p.Glu1614del)
c.1543_1545del (p.Glu515del)
c.1588_1590del (p.Glu530del)
c.5044_5046del (p.Glu1682del)
c.1368_1370del
c.1555_1557del (p.Glu519del)
c.*4764_*4766del (n.*4764_*4766del)
n.134_136del
c.1294_1296del (p.Glu432del)
c.5-6982_5-6980del (n.5-6982_5-6980del)
c.454_456del (p.Glu152del)
c.-98-20743_-98-20741del (n.-98-20743_-98-20741del)
n.5117_5119del
n.5158_5160del
 ClinVar dbSNP
17g.43070931_43070950delinsTTCTTCTGGGGTCAGGCCAGCA2260772735BRCA1c.4961_4980delinsCTGGCCTGACCCCAGAAGAA (p.Ser1654=)
c.4964_4983delinsCTGGCCTGACCCCAGAAGAA (p.Ser1655=)
c.4838_4857delinsCTGGCCTGACCCCAGAAGAA (p.Ser1613=)
c.4958_4977delinsCTGGCCTGACCCCAGAAGAA (p.Ser1653=)
c.4886_4905delinsCTGGCCTGACCCCAGAAGAA (p.Ser1629=)
c.1652_1671delinsCTGGCCTGACCCCAGAAGAA (p.Ser551=)
c.1514_1533delinsCTGGCCTGACCCCAGAAGAA (p.Ser505=)
c.4076_4095delinsCTGGCCTGACCCCAGAAGAA (p.Ser1359=)
c.4841_4860delinsCTGGCCTGACCCCAGAAGAA (p.Ser1614=)
c.5030_5049delinsCTGGCCTGACCCCAGAAGAA (p.Ser1677=)
c.4823_4842delinsCTGGCCTGACCCCAGAAGAA (p.Ser1608=)
c.1526_1545delinsCTGGCCTGACCCCAGAAGAA (p.Ser509=)
c.1571_1590delinsCTGGCCTGACCCCAGAAGAA (p.Ser524=)
c.5027_5046delinsCTGGCCTGACCCCAGAAGAA (p.Ser1676=)
c.1351_1370delinsCTGGCCTGACCCCAGAAGAA
c.1538_1557delinsCTGGCCTGACCCCAGAAGAA (p.Ser513=)
c.*4747_*4766delinsCTGGCCTGACCCCAGAAGAA (n.*4747_*4766delinsCTGGCCTGACCCCAGAAGAA)
n.117_136delinsCTGGCCTGACCCCAGAAGAA
c.1277_1296delinsCTGGCCTGACCCCAGAAGAA (p.Ser426=)
c.5-6999_5-6980delinsCTGGCCTGACCCCAGAAGAA (n.5-6999_5-6980delinsCTGGCCTGACCCCAGAAGAA)
c.437_456delinsCTGGCCTGACCCCAGAAGAA (p.Ser146=)
c.-98-20760_-98-20741delinsCTGGCCTGACCCCAGAAGAA (n.-98-20760_-98-20741delinsCTGGCCTGACCCCAGAAGAA)
n.5100_5119delinsCTGGCCTGACCCCAGAAGAA
n.5141_5160delinsCTGGCCTGACCCCAGAAGAA
17g.43070932T>ACA10591560BRCA1c.4979A>T (p.Glu1660Val)
c.4982A>T (p.Glu1661Val)
c.4856A>T (p.Glu1619Val)
c.4976A>T (p.Glu1659Val)
c.4904A>T (p.Glu1635Val)
c.1670A>T (p.Glu557Val)
c.1532A>T (p.Glu511Val)
c.4094A>T (p.Glu1365Val)
c.4859A>T (p.Glu1620Val)
c.5048A>T (p.Glu1683Val)
c.4841A>T (p.Glu1614Val)
c.1544A>T (p.Glu515Val)
c.1589A>T (p.Glu530Val)
c.5045A>T (p.Glu1682Val)
c.1369A>T
c.1556A>T (p.Glu519Val)
c.*4765A>T (n.*4765A>T)
n.135A>T
c.1295A>T (p.Glu432Val)
c.5-6981A>T (n.5-6981A>T)
c.455A>T (p.Glu152Val)
c.-98-20742A>T (n.-98-20742A>T)
n.5118A>T
n.5159A>T
 ClinVar dbSNP
17g.43070932T>CCA10591561BRCA1c.4979A>G (p.Glu1660Gly)
c.4982A>G (p.Glu1661Gly)
c.4856A>G (p.Glu1619Gly)
c.4976A>G (p.Glu1659Gly)
c.4904A>G (p.Glu1635Gly)
c.1670A>G (p.Glu557Gly)
c.1532A>G (p.Glu511Gly)
c.4094A>G (p.Glu1365Gly)
c.4859A>G (p.Glu1620Gly)
c.5048A>G (p.Glu1683Gly)
c.4841A>G (p.Glu1614Gly)
c.1544A>G (p.Glu515Gly)
c.1589A>G (p.Glu530Gly)
c.5045A>G (p.Glu1682Gly)
c.1369A>G
c.1556A>G (p.Glu519Gly)
c.*4765A>G (n.*4765A>G)
n.135A>G
c.1295A>G (p.Glu432Gly)
c.5-6981A>G (n.5-6981A>G)
c.455A>G (p.Glu152Gly)
c.-98-20742A>G (n.-98-20742A>G)
n.5118A>G
n.5159A>G
 ClinVar dbSNP
17g.43070932T>GCA10591562BRCA1c.4979A>C (p.Glu1660Ala)
c.4982A>C (p.Glu1661Ala)
c.4856A>C (p.Glu1619Ala)
c.4976A>C (p.Glu1659Ala)
c.4904A>C (p.Glu1635Ala)
c.1670A>C (p.Glu557Ala)
c.1532A>C (p.Glu511Ala)
c.4094A>C (p.Glu1365Ala)
c.4859A>C (p.Glu1620Ala)
c.5048A>C (p.Glu1683Ala)
c.4841A>C (p.Glu1614Ala)
c.1544A>C (p.Glu515Ala)
c.1589A>C (p.Glu530Ala)
c.5045A>C (p.Glu1682Ala)
c.1369A>C
c.1556A>C (p.Glu519Ala)
c.*4765A>C (n.*4765A>C)
n.135A>C
c.1295A>C (p.Glu432Ala)
c.5-6981A>C (n.5-6981A>C)
c.455A>C (p.Glu152Ala)
c.-98-20742A>C (n.-98-20742A>C)
n.5118A>C
n.5159A>C
 ClinVar dbSNP
17g.43070932T=CA2260772737BRCA1c.4979A= (p.Glu1660=)
c.4982A= (p.Glu1661=)
c.4856A= (p.Glu1619=)
c.4976A= (p.Glu1659=)
c.4904A= (p.Glu1635=)
c.1670A= (p.Glu557=)
c.1532A= (p.Glu511=)
c.4094A= (p.Glu1365=)
c.4859A= (p.Glu1620=)
c.5048A= (p.Glu1683=)
c.4841A= (p.Glu1614=)
c.1544A= (p.Glu515=)
c.1589A= (p.Glu530=)
c.5045A= (p.Glu1682=)
c.1369A=
c.1556A= (p.Glu519=)
c.*4765A= (n.*4765A=)
n.135A=
c.1295A= (p.Glu432=)
c.5-6981A= (n.5-6981A=)
c.455A= (p.Glu152=)
c.-98-20742A= (n.-98-20742A=)
n.5118A=
n.5159A=
17g.43070932_43070940delCA2697559918BRCA1c.4971_4979del (p.Pro1658_Glu1660del)
c.4974_4982del (p.Pro1659_Glu1661del)
c.4848_4856del (p.Pro1617_Glu1619del)
c.4968_4976del (p.Pro1657_Glu1659del)
c.4896_4904del (p.Pro1633_Glu1635del)
c.1662_1670del (p.Pro555_Glu557del)
c.1524_1532del (p.Pro509_Glu511del)
c.4086_4094del (p.Pro1363_Glu1365del)
c.4851_4859del (p.Pro1618_Glu1620del)
c.5040_5048del (p.Pro1681_Glu1683del)
c.4833_4841del (p.Pro1612_Glu1614del)
c.1536_1544del (p.Pro513_Glu515del)
c.1581_1589del (p.Pro528_Glu530del)
c.5037_5045del (p.Pro1680_Glu1682del)
c.1361_1369del
c.1548_1556del (p.Pro517_Glu519del)
c.*4757_*4765del (n.*4757_*4765del)
n.127_135del
c.1287_1295del (p.Pro430_Glu432del)
c.5-6989_5-6981del (n.5-6989_5-6981del)
c.447_455del (p.Pro150_Glu152del)
c.-98-20750_-98-20742del (n.-98-20750_-98-20742del)
n.5110_5118del
n.5151_5159del
 ClinVar
17g.43070932_43070950delCA003108BRCA1c.4961_4979del (p.Ser1654TyrfsTer16)
c.4964_4982del (p.Ser1655TyrfsTer16)
c.4838_4856del (p.Ser1613TyrfsTer16)
c.4958_4976del (p.Ser1653TyrfsTer16)
c.4886_4904del (p.Ser1629TyrfsTer16)
c.1652_1670del (p.Ser551TyrfsTer16)
c.1514_1532del (p.Ser505TyrfsTer16)
c.4076_4094del (p.Ser1359TyrfsTer16)
c.4841_4859del (p.Ser1614TyrfsTer16)
c.5030_5048del (p.Ser1677TyrfsTer16)
c.4823_4841del (p.Ser1608TyrfsTer16)
c.1526_1544del (p.Ser509TyrfsTer16)
c.1571_1589del (p.Ser524TyrfsTer3)
c.5027_5045del (p.Ser1676TyrfsTer16)
c.1351_1369del
c.1538_1556del (p.Ser513TyrfsTer16)
c.*4747_*4765del (n.*4747_*4765del)
n.117_135del
c.1277_1295del (p.Ser426TyrfsTer16)
c.5-6999_5-6981del (n.5-6999_5-6981del)
c.437_455del (p.Ser146TyrfsTer16)
c.-98-20760_-98-20742del (n.-98-20760_-98-20742del)
n.5100_5118del
n.5141_5159del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43070933C>ACA003116BRCA1c.4978G>T (p.Glu1660Ter)
c.4981G>T (p.Glu1661Ter)
c.4855G>T (p.Glu1619Ter)
c.4975G>T (p.Glu1659Ter)
c.4903G>T (p.Glu1635Ter)
c.1669G>T (p.Glu557Ter)
c.1531G>T (p.Glu511Ter)
c.4093G>T (p.Glu1365Ter)
c.4858G>T (p.Glu1620Ter)
c.5047G>T (p.Glu1683Ter)
c.4840G>T (p.Glu1614Ter)
c.1543G>T (p.Glu515Ter)
c.1588G>T (p.Glu530Ter)
c.5044G>T (p.Glu1682Ter)
c.1368G>T
c.1555G>T (p.Glu519Ter)
c.*4764G>T (n.*4764G>T)
n.134G>T
c.1294G>T (p.Glu432Ter)
c.5-6982G>T (n.5-6982G>T)
c.454G>T (p.Glu152Ter)
c.-98-20743G>T (n.-98-20743G>T)
n.5117G>T
n.5158G>T
 ClinVar dbSNP
17g.43070933C=CA2260772738BRCA1c.4978G= (p.Glu1660=)
c.4981G= (p.Glu1661=)
c.4855G= (p.Glu1619=)
c.4975G= (p.Glu1659=)
c.4903G= (p.Glu1635=)
c.1669G= (p.Glu557=)
c.1531G= (p.Glu511=)
c.4093G= (p.Glu1365=)
c.4858G= (p.Glu1620=)
c.5047G= (p.Glu1683=)
c.4840G= (p.Glu1614=)
c.1543G= (p.Glu515=)
c.1588G= (p.Glu530=)
c.5044G= (p.Glu1682=)
c.1368G=
c.1555G= (p.Glu519=)
c.*4764G= (n.*4764G=)
n.134G=
c.1294G= (p.Glu432=)
c.5-6982G= (n.5-6982G=)
c.454G= (p.Glu152=)
c.-98-20743G= (n.-98-20743G=)
n.5117G=
n.5158G=
17g.43070933C>GCA10591563BRCA1c.4978G>C (p.Glu1660Gln)
c.4981G>C (p.Glu1661Gln)
c.4855G>C (p.Glu1619Gln)
c.4975G>C (p.Glu1659Gln)
c.4903G>C (p.Glu1635Gln)
c.1669G>C (p.Glu557Gln)
c.1531G>C (p.Glu511Gln)
c.4093G>C (p.Glu1365Gln)
c.4858G>C (p.Glu1620Gln)
c.5047G>C (p.Glu1683Gln)
c.4840G>C (p.Glu1614Gln)
c.1543G>C (p.Glu515Gln)
c.1588G>C (p.Glu530Gln)
c.5044G>C (p.Glu1682Gln)
c.1368G>C
c.1555G>C (p.Glu519Gln)
c.*4764G>C (n.*4764G>C)
n.134G>C
c.1294G>C (p.Glu432Gln)
c.5-6982G>C (n.5-6982G>C)
c.454G>C (p.Glu152Gln)
c.-98-20743G>C (n.-98-20743G>C)
n.5117G>C
n.5158G>C
 ClinVar dbSNP
17g.43070933C>TCA10591564BRCA1c.4978G>A (p.Glu1660Lys)
c.4981G>A (p.Glu1661Lys)
c.4855G>A (p.Glu1619Lys)
c.4975G>A (p.Glu1659Lys)
c.4903G>A (p.Glu1635Lys)
c.1669G>A (p.Glu557Lys)
c.1531G>A (p.Glu511Lys)
c.4093G>A (p.Glu1365Lys)
c.4858G>A (p.Glu1620Lys)
c.5047G>A (p.Glu1683Lys)
c.4840G>A (p.Glu1614Lys)
c.1543G>A (p.Glu515Lys)
c.1588G>A (p.Glu530Lys)
c.5044G>A (p.Glu1682Lys)
c.1368G>A
c.1555G>A (p.Glu519Lys)
c.*4764G>A (n.*4764G>A)
n.134G>A
c.1294G>A (p.Glu432Lys)
c.5-6982G>A (n.5-6982G>A)
c.454G>A (p.Glu152Lys)
c.-98-20743G>A (n.-98-20743G>A)
n.5117G>A
n.5158G>A
 ClinVar dbSNP gnomAD v4
17g.43070934_43070952delCA658761200BRCA1c.4960_4978del (p.Ser1654AsnfsTer16)
c.4963_4981del (p.Ser1655AsnfsTer16)
c.4837_4855del (p.Ser1613AsnfsTer16)
c.4957_4975del (p.Ser1653AsnfsTer16)
c.4885_4903del (p.Ser1629AsnfsTer16)
c.1651_1669del (p.Ser551AsnfsTer16)
c.1513_1531del (p.Ser505AsnfsTer16)
c.4075_4093del (p.Ser1359AsnfsTer16)
c.4840_4858del (p.Ser1614AsnfsTer16)
c.5029_5047del (p.Ser1677AsnfsTer16)
c.4822_4840del (p.Ser1608AsnfsTer16)
c.1525_1543del (p.Ser509AsnfsTer16)
c.1570_1588del (p.Ser524AsnfsTer3)
c.5026_5044del (p.Ser1676AsnfsTer16)
c.1350_1368del
c.1537_1555del (p.Ser513AsnfsTer16)
c.*4746_*4764del (n.*4746_*4764del)
n.116_134del
c.1276_1294del (p.Ser426AsnfsTer16)
c.5-7000_5-6982del (n.5-7000_5-6982del)
c.436_454del (p.Ser146AsnfsTer16)
c.-98-20761_-98-20743del (n.-98-20761_-98-20743del)
n.5099_5117del
n.5140_5158del
17g.43070934T>ACA10591565BRCA1c.4977A>T (p.Glu1659Asp)
c.4980A>T (p.Glu1660Asp)
c.4854A>T (p.Glu1618Asp)
c.4974A>T (p.Glu1658Asp)
c.4902A>T (p.Glu1634Asp)
c.1668A>T (p.Glu556Asp)
c.1530A>T (p.Glu510Asp)
c.4092A>T (p.Glu1364Asp)
c.4857A>T (p.Glu1619Asp)
c.5046A>T (p.Glu1682Asp)
c.4839A>T (p.Glu1613Asp)
c.1542A>T (p.Glu514Asp)
c.1587A>T (p.Glu529Asp)
c.5043A>T (p.Glu1681Asp)
c.1367A>T
c.1554A>T (p.Glu518Asp)
c.*4763A>T (n.*4763A>T)
n.133A>T
c.1293A>T (p.Glu431Asp)
c.5-6983A>T (n.5-6983A>T)
c.453A>T (p.Glu151Asp)
c.-98-20744A>T (n.-98-20744A>T)
n.5116A>T
n.5157A>T
 ClinVar dbSNP
17g.43070934T>CCA500231518BRCA1c.4977A>G (p.Glu1659=)
c.4980A>G (p.Glu1660=)
c.4854A>G (p.Glu1618=)
c.4974A>G (p.Glu1658=)
c.4902A>G (p.Glu1634=)
c.1668A>G (p.Glu556=)
c.1530A>G (p.Glu510=)
c.4092A>G (p.Glu1364=)
c.4857A>G (p.Glu1619=)
c.5046A>G (p.Glu1682=)
c.4839A>G (p.Glu1613=)
c.1542A>G (p.Glu514=)
c.1587A>G (p.Glu529=)
c.5043A>G (p.Glu1681=)
c.1367A>G
c.1554A>G (p.Glu518=)
c.*4763A>G (n.*4763A>G)
n.133A>G
c.1293A>G (p.Glu431=)
c.5-6983A>G (n.5-6983A>G)
c.453A>G (p.Glu151=)
c.-98-20744A>G (n.-98-20744A>G)
n.5116A>G
n.5157A>G
 ClinVar dbSNP
17g.43070934T>GCA10591566BRCA1c.4977A>C (p.Glu1659Asp)
c.4980A>C (p.Glu1660Asp)
c.4854A>C (p.Glu1618Asp)
c.4974A>C (p.Glu1658Asp)
c.4902A>C (p.Glu1634Asp)
c.1668A>C (p.Glu556Asp)
c.1530A>C (p.Glu510Asp)
c.4092A>C (p.Glu1364Asp)
c.4857A>C (p.Glu1619Asp)
c.5046A>C (p.Glu1682Asp)
c.4839A>C (p.Glu1613Asp)
c.1542A>C (p.Glu514Asp)
c.1587A>C (p.Glu529Asp)
c.5043A>C (p.Glu1681Asp)
c.1367A>C
c.1554A>C (p.Glu518Asp)
c.*4763A>C (n.*4763A>C)
n.133A>C
c.1293A>C (p.Glu431Asp)
c.5-6983A>C (n.5-6983A>C)
c.453A>C (p.Glu151Asp)
c.-98-20744A>C (n.-98-20744A>C)
n.5116A>C
n.5157A>C
 ClinVar dbSNP
17g.43070934T=CA2260772740BRCA1c.4977A= (p.Glu1659=)
c.4980A= (p.Glu1660=)
c.4854A= (p.Glu1618=)
c.4974A= (p.Glu1658=)
c.4902A= (p.Glu1634=)
c.1668A= (p.Glu556=)
c.1530A= (p.Glu510=)
c.4092A= (p.Glu1364=)
c.4857A= (p.Glu1619=)
c.5046A= (p.Glu1682=)
c.4839A= (p.Glu1613=)
c.1542A= (p.Glu514=)
c.1587A= (p.Glu529=)
c.5043A= (p.Glu1681=)
c.1367A=
c.1554A= (p.Glu518=)
c.*4763A= (n.*4763A=)
n.133A=
c.1293A= (p.Glu431=)
c.5-6983A= (n.5-6983A=)
c.453A= (p.Glu151=)
c.-98-20744A= (n.-98-20744A=)
n.5116A=
n.5157A=
17g.43070934_43070950delinsTTCTGGGGTCAGGCCAGCA2260772739BRCA1c.4961_4977delinsCTGGCCTGACCCCAGAA (p.Ser1654=)
c.4964_4980delinsCTGGCCTGACCCCAGAA (p.Ser1655=)
c.4838_4854delinsCTGGCCTGACCCCAGAA (p.Ser1613=)
c.4958_4974delinsCTGGCCTGACCCCAGAA (p.Ser1653=)
c.4886_4902delinsCTGGCCTGACCCCAGAA (p.Ser1629=)
c.1652_1668delinsCTGGCCTGACCCCAGAA (p.Ser551=)
c.1514_1530delinsCTGGCCTGACCCCAGAA (p.Ser505=)
c.4076_4092delinsCTGGCCTGACCCCAGAA (p.Ser1359=)
c.4841_4857delinsCTGGCCTGACCCCAGAA (p.Ser1614=)
c.5030_5046delinsCTGGCCTGACCCCAGAA (p.Ser1677=)
c.4823_4839delinsCTGGCCTGACCCCAGAA (p.Ser1608=)
c.1526_1542delinsCTGGCCTGACCCCAGAA (p.Ser509=)
c.1571_1587delinsCTGGCCTGACCCCAGAA (p.Ser524=)
c.5027_5043delinsCTGGCCTGACCCCAGAA (p.Ser1676=)
c.1351_1367delinsCTGGCCTGACCCCAGAA
c.1538_1554delinsCTGGCCTGACCCCAGAA (p.Ser513=)
c.*4747_*4763delinsCTGGCCTGACCCCAGAA (n.*4747_*4763delinsCTGGCCTGACCCCAGAA)
n.117_133delinsCTGGCCTGACCCCAGAA
c.1277_1293delinsCTGGCCTGACCCCAGAA (p.Ser426=)
c.5-6999_5-6983delinsCTGGCCTGACCCCAGAA (n.5-6999_5-6983delinsCTGGCCTGACCCCAGAA)
c.437_453delinsCTGGCCTGACCCCAGAA (p.Ser146=)
c.-98-20760_-98-20744delinsCTGGCCTGACCCCAGAA (n.-98-20760_-98-20744delinsCTGGCCTGACCCCAGAA)
n.5100_5116delinsCTGGCCTGACCCCAGAA
n.5141_5157delinsCTGGCCTGACCCCAGAA
17g.43070935T>ACA10591567BRCA1c.4976A>T (p.Glu1659Val)
c.4979A>T (p.Glu1660Val)
c.4853A>T (p.Glu1618Val)
c.4973A>T (p.Glu1658Val)
c.4901A>T (p.Glu1634Val)
c.1667A>T (p.Glu556Val)
c.1529A>T (p.Glu510Val)
c.4091A>T (p.Glu1364Val)
c.4856A>T (p.Glu1619Val)
c.5045A>T (p.Glu1682Val)
c.4838A>T (p.Glu1613Val)
c.1541A>T (p.Glu514Val)
c.1586A>T (p.Glu529Val)
c.5042A>T (p.Glu1681Val)
c.1366A>T
c.1553A>T (p.Glu518Val)
c.*4762A>T (n.*4762A>T)
n.132A>T
c.1292A>T (p.Glu431Val)
c.5-6984A>T (n.5-6984A>T)
c.452A>T (p.Glu151Val)
c.-98-20745A>T (n.-98-20745A>T)
n.5115A>T
n.5156A>T
 ClinVar dbSNP
17g.43070935T>CCA10591568BRCA1c.4976A>G (p.Glu1659Gly)
c.4979A>G (p.Glu1660Gly)
c.4853A>G (p.Glu1618Gly)
c.4973A>G (p.Glu1658Gly)
c.4901A>G (p.Glu1634Gly)
c.1667A>G (p.Glu556Gly)
c.1529A>G (p.Glu510Gly)
c.4091A>G (p.Glu1364Gly)
c.4856A>G (p.Glu1619Gly)
c.5045A>G (p.Glu1682Gly)
c.4838A>G (p.Glu1613Gly)
c.1541A>G (p.Glu514Gly)
c.1586A>G (p.Glu529Gly)
c.5042A>G (p.Glu1681Gly)
c.1366A>G
c.1553A>G (p.Glu518Gly)
c.*4762A>G (n.*4762A>G)
n.132A>G
c.1292A>G (p.Glu431Gly)
c.5-6984A>G (n.5-6984A>G)
c.452A>G (p.Glu151Gly)
c.-98-20745A>G (n.-98-20745A>G)
n.5115A>G
n.5156A>G
 ClinVar dbSNP gnomAD v4
17g.43070935T>GCA10591569BRCA1c.4976A>C (p.Glu1659Ala)
c.4979A>C (p.Glu1660Ala)
c.4853A>C (p.Glu1618Ala)
c.4973A>C (p.Glu1658Ala)
c.4901A>C (p.Glu1634Ala)
c.1667A>C (p.Glu556Ala)
c.1529A>C (p.Glu510Ala)
c.4091A>C (p.Glu1364Ala)
c.4856A>C (p.Glu1619Ala)
c.5045A>C (p.Glu1682Ala)
c.4838A>C (p.Glu1613Ala)
c.1541A>C (p.Glu514Ala)
c.1586A>C (p.Glu529Ala)
c.5042A>C (p.Glu1681Ala)
c.1366A>C
c.1553A>C (p.Glu518Ala)
c.*4762A>C (n.*4762A>C)
n.132A>C
c.1292A>C (p.Glu431Ala)
c.5-6984A>C (n.5-6984A>C)
c.452A>C (p.Glu151Ala)
c.-98-20745A>C (n.-98-20745A>C)
n.5115A>C
n.5156A>C
 ClinVar dbSNP
17g.43070935T=CA2260772741BRCA1c.4976A= (p.Glu1659=)
c.4979A= (p.Glu1660=)
c.4853A= (p.Glu1618=)
c.4973A= (p.Glu1658=)
c.4901A= (p.Glu1634=)
c.1667A= (p.Glu556=)
c.1529A= (p.Glu510=)
c.4091A= (p.Glu1364=)
c.4856A= (p.Glu1619=)
c.5045A= (p.Glu1682=)
c.4838A= (p.Glu1613=)
c.1541A= (p.Glu514=)
c.1586A= (p.Glu529=)
c.5042A= (p.Glu1681=)
c.1366A=
c.1553A= (p.Glu518=)
c.*4762A= (n.*4762A=)
n.132A=
c.1292A= (p.Glu431=)
c.5-6984A= (n.5-6984A=)
c.452A= (p.Glu151=)
c.-98-20745A= (n.-98-20745A=)
n.5115A=
n.5156A=
17g.43070935_43070950delCA003106BRCA1c.4961_4976del (p.Ser1654Ter)
c.4964_4979del (p.Ser1655Ter)
c.4838_4853del (p.Ser1613Ter)
c.4958_4973del (p.Ser1653Ter)
c.4886_4901del (p.Ser1629Ter)
c.1652_1667del (p.Ser551Ter)
c.1514_1529del (p.Ser505Ter)
c.4076_4091del (p.Ser1359Ter)
c.4841_4856del (p.Ser1614Ter)
c.5030_5045del (p.Ser1677Ter)
c.4823_4838del (p.Ser1608Ter)
c.1526_1541del (p.Ser509Ter)
c.1571_1586del (p.Ser524Ter)
c.5027_5042del (p.Ser1676Ter)
c.1351_1366del
c.1538_1553del (p.Ser513Ter)
c.*4747_*4762del (n.*4747_*4762del)
n.117_132del
c.1277_1292del (p.Ser426Ter)
c.5-6999_5-6984del (n.5-6999_5-6984del)
c.437_452del (p.Ser146Ter)
c.-98-20760_-98-20745del (n.-98-20760_-98-20745del)
n.5100_5115del
n.5141_5156del
 ClinVar dbSNP
17g.43070936C>ACA10591570BRCA1c.4975G>T (p.Glu1659Ter)
c.4978G>T (p.Glu1660Ter)
c.4852G>T (p.Glu1618Ter)
c.4972G>T (p.Glu1658Ter)
c.4900G>T (p.Glu1634Ter)
c.1666G>T (p.Glu556Ter)
c.1528G>T (p.Glu510Ter)
c.4090G>T (p.Glu1364Ter)
c.4855G>T (p.Glu1619Ter)
c.5044G>T (p.Glu1682Ter)
c.4837G>T (p.Glu1613Ter)
c.1540G>T (p.Glu514Ter)
c.1585G>T (p.Glu529Ter)
c.5041G>T (p.Glu1681Ter)
c.1365G>T
c.1552G>T (p.Glu518Ter)
c.*4761G>T (n.*4761G>T)
n.131G>T
c.1291G>T (p.Glu431Ter)
c.5-6985G>T (n.5-6985G>T)
c.451G>T (p.Glu151Ter)
c.-98-20746G>T (n.-98-20746G>T)
n.5114G>T
n.5155G>T
 ClinVar dbSNP
17g.43070936C=CA2260772742BRCA1c.4975G= (p.Glu1659=)
c.4978G= (p.Glu1660=)
c.4852G= (p.Glu1618=)
c.4972G= (p.Glu1658=)
c.4900G= (p.Glu1634=)
c.1666G= (p.Glu556=)
c.1528G= (p.Glu510=)
c.4090G= (p.Glu1364=)
c.4855G= (p.Glu1619=)
c.5044G= (p.Glu1682=)
c.4837G= (p.Glu1613=)
c.1540G= (p.Glu514=)
c.1585G= (p.Glu529=)
c.5041G= (p.Glu1681=)
c.1365G=
c.1552G= (p.Glu518=)
c.*4761G= (n.*4761G=)
n.131G=
c.1291G= (p.Glu431=)
c.5-6985G= (n.5-6985G=)
c.451G= (p.Glu151=)
c.-98-20746G= (n.-98-20746G=)
n.5114G=
n.5155G=
17g.43070936C>GCA10591571BRCA1c.4975G>C (p.Glu1659Gln)
c.4978G>C (p.Glu1660Gln)
c.4852G>C (p.Glu1618Gln)
c.4972G>C (p.Glu1658Gln)
c.4900G>C (p.Glu1634Gln)
c.1666G>C (p.Glu556Gln)
c.1528G>C (p.Glu510Gln)
c.4090G>C (p.Glu1364Gln)
c.4855G>C (p.Glu1619Gln)
c.5044G>C (p.Glu1682Gln)
c.4837G>C (p.Glu1613Gln)
c.1540G>C (p.Glu514Gln)
c.1585G>C (p.Glu529Gln)
c.5041G>C (p.Glu1681Gln)
c.1365G>C
c.1552G>C (p.Glu518Gln)
c.*4761G>C (n.*4761G>C)
n.131G>C
c.1291G>C (p.Glu431Gln)
c.5-6985G>C (n.5-6985G>C)
c.451G>C (p.Glu151Gln)
c.-98-20746G>C (n.-98-20746G>C)
n.5114G>C
n.5155G>C
 ClinVar dbSNP
17g.43070936C>TCA10591572BRCA1c.4975G>A (p.Glu1659Lys)
c.4978G>A (p.Glu1660Lys)
c.4852G>A (p.Glu1618Lys)
c.4972G>A (p.Glu1658Lys)
c.4900G>A (p.Glu1634Lys)
c.1666G>A (p.Glu556Lys)
c.1528G>A (p.Glu510Lys)
c.4090G>A (p.Glu1364Lys)
c.4855G>A (p.Glu1619Lys)
c.5044G>A (p.Glu1682Lys)
c.4837G>A (p.Glu1613Lys)
c.1540G>A (p.Glu514Lys)
c.1585G>A (p.Glu529Lys)
c.5041G>A (p.Glu1681Lys)
c.1365G>A
c.1552G>A (p.Glu518Lys)
c.*4761G>A (n.*4761G>A)
n.131G>A
c.1291G>A (p.Glu431Lys)
c.5-6985G>A (n.5-6985G>A)
c.451G>A (p.Glu151Lys)
c.-98-20746G>A (n.-98-20746G>A)
n.5114G>A
n.5155G>A
 ClinVar dbSNP
17g.43070937T>ACA500231525BRCA1c.4974A>T (p.Pro1658=)
c.4977A>T (p.Pro1659=)
c.4851A>T (p.Pro1617=)
c.4971A>T (p.Pro1657=)
c.4899A>T (p.Pro1633=)
c.1665A>T (p.Pro555=)
c.1527A>T (p.Pro509=)
c.4089A>T (p.Pro1363=)
c.4854A>T (p.Pro1618=)
c.5043A>T (p.Pro1681=)
c.4836A>T (p.Pro1612=)
c.1539A>T (p.Pro513=)
c.1584A>T (p.Pro528=)
c.5040A>T (p.Pro1680=)
c.1364A>T
c.1551A>T (p.Pro517=)
c.*4760A>T (n.*4760A>T)
n.130A>T
c.1290A>T (p.Pro430=)
c.5-6986A>T (n.5-6986A>T)
c.450A>T (p.Pro150=)
c.-98-20747A>T (n.-98-20747A>T)
n.5113A>T
n.5154A>T
 ClinVar dbSNP
17g.43070937T>CCA500231526BRCA1c.4974A>G (p.Pro1658=)
c.4977A>G (p.Pro1659=)
c.4851A>G (p.Pro1617=)
c.4971A>G (p.Pro1657=)
c.4899A>G (p.Pro1633=)
c.1665A>G (p.Pro555=)
c.1527A>G (p.Pro509=)
c.4089A>G (p.Pro1363=)
c.4854A>G (p.Pro1618=)
c.5043A>G (p.Pro1681=)
c.4836A>G (p.Pro1612=)
c.1539A>G (p.Pro513=)
c.1584A>G (p.Pro528=)
c.5040A>G (p.Pro1680=)
c.1364A>G
c.1551A>G (p.Pro517=)
c.*4760A>G (n.*4760A>G)
n.130A>G
c.1290A>G (p.Pro430=)
c.5-6986A>G (n.5-6986A>G)
c.450A>G (p.Pro150=)
c.-98-20747A>G (n.-98-20747A>G)
n.5113A>G
n.5154A>G
 ClinVar dbSNP gnomAD v4
17g.43070937T>GCA500231527BRCA1c.4974A>C (p.Pro1658=)
c.4977A>C (p.Pro1659=)
c.4851A>C (p.Pro1617=)
c.4971A>C (p.Pro1657=)
c.4899A>C (p.Pro1633=)
c.1665A>C (p.Pro555=)
c.1527A>C (p.Pro509=)
c.4089A>C (p.Pro1363=)
c.4854A>C (p.Pro1618=)
c.5043A>C (p.Pro1681=)
c.4836A>C (p.Pro1612=)
c.1539A>C (p.Pro513=)
c.1584A>C (p.Pro528=)
c.5040A>C (p.Pro1680=)
c.1364A>C
c.1551A>C (p.Pro517=)
c.*4760A>C (n.*4760A>C)
n.130A>C
c.1290A>C (p.Pro430=)
c.5-6986A>C (n.5-6986A>C)
c.450A>C (p.Pro150=)
c.-98-20747A>C (n.-98-20747A>C)
n.5113A>C
n.5154A>C
 ClinVar dbSNP
17g.43070937T=CA2260772744BRCA1c.4974A= (p.Pro1658=)
c.4977A= (p.Pro1659=)
c.4851A= (p.Pro1617=)
c.4971A= (p.Pro1657=)
c.4899A= (p.Pro1633=)
c.1665A= (p.Pro555=)
c.1527A= (p.Pro509=)
c.4089A= (p.Pro1363=)
c.4854A= (p.Pro1618=)
c.5043A= (p.Pro1681=)
c.4836A= (p.Pro1612=)
c.1539A= (p.Pro513=)
c.1584A= (p.Pro528=)
c.5040A= (p.Pro1680=)
c.1364A=
c.1551A= (p.Pro517=)
c.*4760A= (n.*4760A=)
n.130A=
c.1290A= (p.Pro430=)
c.5-6986A= (n.5-6986A=)
c.450A= (p.Pro150=)
c.-98-20747A= (n.-98-20747A=)
n.5113A=
n.5154A=
17g.43070937_43070938delinsTGCA2260772743BRCA1c.4973_4974delinsCA (p.Pro1658=)
c.4976_4977delinsCA (p.Pro1659=)
c.4850_4851delinsCA (p.Pro1617=)
c.4970_4971delinsCA (p.Pro1657=)
c.4898_4899delinsCA (p.Pro1633=)
c.1664_1665delinsCA (p.Pro555=)
c.1526_1527delinsCA (p.Pro509=)
c.4088_4089delinsCA (p.Pro1363=)
c.4853_4854delinsCA (p.Pro1618=)
c.5042_5043delinsCA (p.Pro1681=)
c.4835_4836delinsCA (p.Pro1612=)
c.1538_1539delinsCA (p.Pro513=)
c.1583_1584delinsCA (p.Pro528=)
c.5039_5040delinsCA (p.Pro1680=)
c.1363_1364delinsCA
c.1550_1551delinsCA (p.Pro517=)
c.*4759_*4760delinsCA (n.*4759_*4760delinsCA)
n.129_130delinsCA
c.1289_1290delinsCA (p.Pro430=)
c.5-6987_5-6986delinsCA (n.5-6987_5-6986delinsCA)
c.449_450delinsCA (p.Pro150=)
c.-98-20748_-98-20747delinsCA (n.-98-20748_-98-20747delinsCA)
n.5112_5113delinsCA
n.5153_5154delinsCA
17g.43070938G>ACA10591573BRCA1c.4973C>T (p.Pro1658Leu)
c.4976C>T (p.Pro1659Leu)
c.4850C>T (p.Pro1617Leu)
c.4970C>T (p.Pro1657Leu)
c.4898C>T (p.Pro1633Leu)
c.1664C>T (p.Pro555Leu)
c.1526C>T (p.Pro509Leu)
c.4088C>T (p.Pro1363Leu)
c.4853C>T (p.Pro1618Leu)
c.5042C>T (p.Pro1681Leu)
c.4835C>T (p.Pro1612Leu)
c.1538C>T (p.Pro513Leu)
c.1583C>T (p.Pro528Leu)
c.5039C>T (p.Pro1680Leu)
c.1363C>T
c.1550C>T (p.Pro517Leu)
c.*4759C>T (n.*4759C>T)
n.129C>T
c.1289C>T (p.Pro430Leu)
c.5-6987C>T (n.5-6987C>T)
c.449C>T (p.Pro150Leu)
c.-98-20748C>T (n.-98-20748C>T)
n.5112C>T
n.5153C>T
 ClinVar dbSNP
17g.43070938G>CCA10591574BRCA1c.4973C>G (p.Pro1658Arg)
c.4976C>G (p.Pro1659Arg)
c.4850C>G (p.Pro1617Arg)
c.4970C>G (p.Pro1657Arg)
c.4898C>G (p.Pro1633Arg)
c.1664C>G (p.Pro555Arg)
c.1526C>G (p.Pro509Arg)
c.4088C>G (p.Pro1363Arg)
c.4853C>G (p.Pro1618Arg)
c.5042C>G (p.Pro1681Arg)
c.4835C>G (p.Pro1612Arg)
c.1538C>G (p.Pro513Arg)
c.1583C>G (p.Pro528Arg)
c.5039C>G (p.Pro1680Arg)
c.1363C>G
c.1550C>G (p.Pro517Arg)
c.*4759C>G (n.*4759C>G)
n.129C>G
c.1289C>G (p.Pro430Arg)
c.5-6987C>G (n.5-6987C>G)
c.449C>G (p.Pro150Arg)
c.-98-20748C>G (n.-98-20748C>G)
n.5112C>G
n.5153C>G
 ClinVar dbSNP
17g.43070938G=CA2260772745BRCA1c.4973C= (p.Pro1658=)
c.4976C= (p.Pro1659=)
c.4850C= (p.Pro1617=)
c.4970C= (p.Pro1657=)
c.4898C= (p.Pro1633=)
c.1664C= (p.Pro555=)
c.1526C= (p.Pro509=)
c.4088C= (p.Pro1363=)
c.4853C= (p.Pro1618=)
c.5042C= (p.Pro1681=)
c.4835C= (p.Pro1612=)
c.1538C= (p.Pro513=)
c.1583C= (p.Pro528=)
c.5039C= (p.Pro1680=)
c.1363C=
c.1550C= (p.Pro517=)
c.*4759C= (n.*4759C=)
n.129C=
c.1289C= (p.Pro430=)
c.5-6987C= (n.5-6987C=)
c.449C= (p.Pro150=)
c.-98-20748C= (n.-98-20748C=)
n.5112C=
n.5153C=
17g.43070938G>TCA10591575BRCA1c.4973C>A (p.Pro1658Gln)
c.4976C>A (p.Pro1659Gln)
c.4850C>A (p.Pro1617Gln)
c.4970C>A (p.Pro1657Gln)
c.4898C>A (p.Pro1633Gln)
c.1664C>A (p.Pro555Gln)
c.1526C>A (p.Pro509Gln)
c.4088C>A (p.Pro1363Gln)
c.4853C>A (p.Pro1618Gln)
c.5042C>A (p.Pro1681Gln)
c.4835C>A (p.Pro1612Gln)
c.1538C>A (p.Pro513Gln)
c.1583C>A (p.Pro528Gln)
c.5039C>A (p.Pro1680Gln)
c.1363C>A
c.1550C>A (p.Pro517Gln)
c.*4759C>A (n.*4759C>A)
n.129C>A
c.1289C>A (p.Pro430Gln)
c.5-6987C>A (n.5-6987C>A)
c.449C>A (p.Pro150Gln)
c.-98-20748C>A (n.-98-20748C>A)
n.5112C>A
n.5153C>A
 ClinVar dbSNP
17g.43070941delCA10585909BRCA1c.4973del (p.Pro1658GlnfsTer18)
c.4976del (p.Pro1659GlnfsTer18)
c.4850del (p.Pro1617GlnfsTer18)
c.4970del (p.Pro1657GlnfsTer18)
c.4898del (p.Pro1633GlnfsTer18)
c.1664del (p.Pro555GlnfsTer18)
c.1526del (p.Pro509GlnfsTer18)
c.4088del (p.Pro1363GlnfsTer18)
c.4853del (p.Pro1618GlnfsTer18)
c.5042del (p.Pro1681GlnfsTer18)
c.4835del (p.Pro1612GlnfsTer18)
c.1538del (p.Pro513GlnfsTer18)
c.1583del (p.Pro528GlnfsTer5)
c.5039del (p.Pro1680GlnfsTer18)
c.1363del
c.1550del (p.Pro517GlnfsTer18)
c.*4759del (n.*4759del)
n.129del
c.1289del (p.Pro430GlnfsTer18)
c.5-6987del (n.5-6987del)
c.449del (p.Pro150GlnfsTer18)
c.-98-20748del (n.-98-20748del)
n.5112del
n.5153del
 ClinVar dbSNP
17g.43070939G>ACA10591576BRCA1c.4972C>T (p.Pro1658Ser)
c.4975C>T (p.Pro1659Ser)
c.4849C>T (p.Pro1617Ser)
c.4969C>T (p.Pro1657Ser)
c.4897C>T (p.Pro1633Ser)
c.1663C>T (p.Pro555Ser)
c.1525C>T (p.Pro509Ser)
c.4087C>T (p.Pro1363Ser)
c.4852C>T (p.Pro1618Ser)
c.5041C>T (p.Pro1681Ser)
c.4834C>T (p.Pro1612Ser)
c.1537C>T (p.Pro513Ser)
c.1582C>T (p.Pro528Ser)
c.5038C>T (p.Pro1680Ser)
c.1362C>T
c.1549C>T (p.Pro517Ser)
c.*4758C>T (n.*4758C>T)
n.128C>T
c.1288C>T (p.Pro430Ser)
c.5-6988C>T (n.5-6988C>T)
c.448C>T (p.Pro150Ser)
c.-98-20749C>T (n.-98-20749C>T)
n.5111C>T
n.5152C>T
 ClinVar dbSNP
17g.43070939G>CCA10591577BRCA1c.4972C>G (p.Pro1658Ala)
c.4975C>G (p.Pro1659Ala)
c.4849C>G (p.Pro1617Ala)
c.4969C>G (p.Pro1657Ala)
c.4897C>G (p.Pro1633Ala)
c.1663C>G (p.Pro555Ala)
c.1525C>G (p.Pro509Ala)
c.4087C>G (p.Pro1363Ala)
c.4852C>G (p.Pro1618Ala)
c.5041C>G (p.Pro1681Ala)
c.4834C>G (p.Pro1612Ala)
c.1537C>G (p.Pro513Ala)
c.1582C>G (p.Pro528Ala)
c.5038C>G (p.Pro1680Ala)
c.1362C>G
c.1549C>G (p.Pro517Ala)
c.*4758C>G (n.*4758C>G)
n.128C>G
c.1288C>G (p.Pro430Ala)
c.5-6988C>G (n.5-6988C>G)
c.448C>G (p.Pro150Ala)
c.-98-20749C>G (n.-98-20749C>G)
n.5111C>G
n.5152C>G
 ClinVar dbSNP gnomAD v4
17g.43070939G=CA2260772746BRCA1c.4972C= (p.Pro1658=)
c.4975C= (p.Pro1659=)
c.4849C= (p.Pro1617=)
c.4969C= (p.Pro1657=)
c.4897C= (p.Pro1633=)
c.1663C= (p.Pro555=)
c.1525C= (p.Pro509=)
c.4087C= (p.Pro1363=)
c.4852C= (p.Pro1618=)
c.5041C= (p.Pro1681=)
c.4834C= (p.Pro1612=)
c.1537C= (p.Pro513=)
c.1582C= (p.Pro528=)
c.5038C= (p.Pro1680=)
c.1362C=
c.1549C= (p.Pro517=)
c.*4758C= (n.*4758C=)
n.128C=
c.1288C= (p.Pro430=)
c.5-6988C= (n.5-6988C=)
c.448C= (p.Pro150=)
c.-98-20749C= (n.-98-20749C=)
n.5111C=
n.5152C=
17g.43070939G>TCA10591578BRCA1c.4972C>A (p.Pro1658Thr)
c.4975C>A (p.Pro1659Thr)
c.4849C>A (p.Pro1617Thr)
c.4969C>A (p.Pro1657Thr)
c.4897C>A (p.Pro1633Thr)
c.1663C>A (p.Pro555Thr)
c.1525C>A (p.Pro509Thr)
c.4087C>A (p.Pro1363Thr)
c.4852C>A (p.Pro1618Thr)
c.5041C>A (p.Pro1681Thr)
c.4834C>A (p.Pro1612Thr)
c.1537C>A (p.Pro513Thr)
c.1582C>A (p.Pro528Thr)
c.5038C>A (p.Pro1680Thr)
c.1362C>A
c.1549C>A (p.Pro517Thr)
c.*4758C>A (n.*4758C>A)
n.128C>A
c.1288C>A (p.Pro430Thr)
c.5-6988C>A (n.5-6988C>A)
c.448C>A (p.Pro150Thr)
c.-98-20749C>A (n.-98-20749C>A)
n.5111C>A
n.5152C>A
 ClinVar dbSNP
17g.43070940G>ACA500231533BRCA1c.4971C>T (p.Thr1657=)
c.4974C>T (p.Thr1658=)
c.4848C>T (p.Thr1616=)
c.4968C>T (p.Thr1656=)
c.4896C>T (p.Thr1632=)
c.1662C>T (p.Thr554=)
c.1524C>T (p.Thr508=)
c.4086C>T (p.Thr1362=)
c.4851C>T (p.Thr1617=)
c.5040C>T (p.Thr1680=)
c.4833C>T (p.Thr1611=)
c.1536C>T (p.Thr512=)
c.1581C>T (p.Thr527=)
c.5037C>T (p.Thr1679=)
c.1361C>T
c.1548C>T (p.Thr516=)
c.*4757C>T (n.*4757C>T)
n.127C>T
c.1287C>T (p.Thr429=)
c.5-6989C>T (n.5-6989C>T)
c.447C>T (p.Thr149=)
c.-98-20750C>T (n.-98-20750C>T)
n.5110C>T
n.5151C>T
 ClinVar dbSNP gnomAD v4
17g.43070940G>CCA500231534BRCA1c.4971C>G (p.Thr1657=)
c.4974C>G (p.Thr1658=)
c.4848C>G (p.Thr1616=)
c.4968C>G (p.Thr1656=)
c.4896C>G (p.Thr1632=)
c.1662C>G (p.Thr554=)
c.1524C>G (p.Thr508=)
c.4086C>G (p.Thr1362=)
c.4851C>G (p.Thr1617=)
c.5040C>G (p.Thr1680=)
c.4833C>G (p.Thr1611=)
c.1536C>G (p.Thr512=)
c.1581C>G (p.Thr527=)
c.5037C>G (p.Thr1679=)
c.1361C>G
c.1548C>G (p.Thr516=)
c.*4757C>G (n.*4757C>G)
n.127C>G
c.1287C>G (p.Thr429=)
c.5-6989C>G (n.5-6989C>G)
c.447C>G (p.Thr149=)
c.-98-20750C>G (n.-98-20750C>G)
n.5110C>G
n.5151C>G
 dbSNP
17g.43070940G=CA2260772747BRCA1c.4971C= (p.Thr1657=)
c.4974C= (p.Thr1658=)
c.4848C= (p.Thr1616=)
c.4968C= (p.Thr1656=)
c.4896C= (p.Thr1632=)
c.1662C= (p.Thr554=)
c.1524C= (p.Thr508=)
c.4086C= (p.Thr1362=)
c.4851C= (p.Thr1617=)
c.5040C= (p.Thr1680=)
c.4833C= (p.Thr1611=)
c.1536C= (p.Thr512=)
c.1581C= (p.Thr527=)
c.5037C= (p.Thr1679=)
c.1361C=
c.1548C= (p.Thr516=)
c.*4757C= (n.*4757C=)
n.127C=
c.1287C= (p.Thr429=)
c.5-6989C= (n.5-6989C=)
c.447C= (p.Thr149=)
c.-98-20750C= (n.-98-20750C=)
n.5110C=
n.5151C=
17g.43070940G>TCA500231535BRCA1c.4971C>A (p.Thr1657=)
c.4974C>A (p.Thr1658=)
c.4848C>A (p.Thr1616=)
c.4968C>A (p.Thr1656=)
c.4896C>A (p.Thr1632=)
c.1662C>A (p.Thr554=)
c.1524C>A (p.Thr508=)
c.4086C>A (p.Thr1362=)
c.4851C>A (p.Thr1617=)
c.5040C>A (p.Thr1680=)
c.4833C>A (p.Thr1611=)
c.1536C>A (p.Thr512=)
c.1581C>A (p.Thr527=)
c.5037C>A (p.Thr1679=)
c.1361C>A
c.1548C>A (p.Thr516=)
c.*4757C>A (n.*4757C>A)
n.127C>A
c.1287C>A (p.Thr429=)
c.5-6989C>A (n.5-6989C>A)
c.447C>A (p.Thr149=)
c.-98-20750C>A (n.-98-20750C>A)
n.5110C>A
n.5151C>A
 dbSNP
17g.43070941G>ACA10591579BRCA1c.4970C>T (p.Thr1657Ile)
c.4973C>T (p.Thr1658Ile)
c.4847C>T (p.Thr1616Ile)
c.4967C>T (p.Thr1656Ile)
c.4895C>T (p.Thr1632Ile)
c.1661C>T (p.Thr554Ile)
c.1523C>T (p.Thr508Ile)
c.4085C>T (p.Thr1362Ile)
c.4850C>T (p.Thr1617Ile)
c.5039C>T (p.Thr1680Ile)
c.4832C>T (p.Thr1611Ile)
c.1535C>T (p.Thr512Ile)
c.1580C>T (p.Thr527Ile)
c.5036C>T (p.Thr1679Ile)
c.1360C>T
c.1547C>T (p.Thr516Ile)
c.*4756C>T (n.*4756C>T)
n.126C>T
c.1286C>T (p.Thr429Ile)
c.5-6990C>T (n.5-6990C>T)
c.446C>T (p.Thr149Ile)
c.-98-20751C>T (n.-98-20751C>T)
n.5109C>T
n.5150C>T
 ClinVar dbSNP
17g.43070941G>CCA10591580BRCA1c.4970C>G (p.Thr1657Ser)
c.4973C>G (p.Thr1658Ser)
c.4847C>G (p.Thr1616Ser)
c.4967C>G (p.Thr1656Ser)
c.4895C>G (p.Thr1632Ser)
c.1661C>G (p.Thr554Ser)
c.1523C>G (p.Thr508Ser)
c.4085C>G (p.Thr1362Ser)
c.4850C>G (p.Thr1617Ser)
c.5039C>G (p.Thr1680Ser)
c.4832C>G (p.Thr1611Ser)
c.1535C>G (p.Thr512Ser)
c.1580C>G (p.Thr527Ser)
c.5036C>G (p.Thr1679Ser)
c.1360C>G
c.1547C>G (p.Thr516Ser)
c.*4756C>G (n.*4756C>G)
n.126C>G
c.1286C>G (p.Thr429Ser)
c.5-6990C>G (n.5-6990C>G)
c.446C>G (p.Thr149Ser)
c.-98-20751C>G (n.-98-20751C>G)
n.5109C>G
n.5150C>G
 ClinVar dbSNP
17g.43070941G=CA2260772748BRCA1c.4970C= (p.Thr1657=)
c.4973C= (p.Thr1658=)
c.4847C= (p.Thr1616=)
c.4967C= (p.Thr1656=)
c.4895C= (p.Thr1632=)
c.1661C= (p.Thr554=)
c.1523C= (p.Thr508=)
c.4085C= (p.Thr1362=)
c.4850C= (p.Thr1617=)
c.5039C= (p.Thr1680=)
c.4832C= (p.Thr1611=)
c.1535C= (p.Thr512=)
c.1580C= (p.Thr527=)
c.5036C= (p.Thr1679=)
c.1360C=
c.1547C= (p.Thr516=)
c.*4756C= (n.*4756C=)
n.126C=
c.1286C= (p.Thr429=)
c.5-6990C= (n.5-6990C=)
c.446C= (p.Thr149=)
c.-98-20751C= (n.-98-20751C=)
n.5109C=
n.5150C=
17g.43070941G>TCA10591581BRCA1c.4970C>A (p.Thr1657Asn)
c.4973C>A (p.Thr1658Asn)
c.4847C>A (p.Thr1616Asn)
c.4967C>A (p.Thr1656Asn)
c.4895C>A (p.Thr1632Asn)
c.1661C>A (p.Thr554Asn)
c.1523C>A (p.Thr508Asn)
c.4085C>A (p.Thr1362Asn)
c.4850C>A (p.Thr1617Asn)
c.5039C>A (p.Thr1680Asn)
c.4832C>A (p.Thr1611Asn)
c.1535C>A (p.Thr512Asn)
c.1580C>A (p.Thr527Asn)
c.5036C>A (p.Thr1679Asn)
c.1360C>A
c.1547C>A (p.Thr516Asn)
c.*4756C>A (n.*4756C>A)
n.126C>A
c.1286C>A (p.Thr429Asn)
c.5-6990C>A (n.5-6990C>A)
c.446C>A (p.Thr149Asn)
c.-98-20751C>A (n.-98-20751C>A)
n.5109C>A
n.5150C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43070941_43070942delinsGTCA2260772749BRCA1c.4969_4970delinsAC (p.Thr1657=)
c.4972_4973delinsAC (p.Thr1658=)
c.4846_4847delinsAC (p.Thr1616=)
c.4966_4967delinsAC (p.Thr1656=)
c.4894_4895delinsAC (p.Thr1632=)
c.1660_1661delinsAC (p.Thr554=)
c.1522_1523delinsAC (p.Thr508=)
c.4084_4085delinsAC (p.Thr1362=)
c.4849_4850delinsAC (p.Thr1617=)
c.5038_5039delinsAC (p.Thr1680=)
c.4831_4832delinsAC (p.Thr1611=)
c.1534_1535delinsAC (p.Thr512=)
c.1579_1580delinsAC (p.Thr527=)
c.5035_5036delinsAC (p.Thr1679=)
c.1359_1360delinsAC
c.1546_1547delinsAC (p.Thr516=)
c.*4755_*4756delinsAC (n.*4755_*4756delinsAC)
n.125_126delinsAC
c.1285_1286delinsAC (p.Thr429=)
c.5-6991_5-6990delinsAC (n.5-6991_5-6990delinsAC)
c.445_446delinsAC (p.Thr149=)
c.-98-20752_-98-20751delinsAC (n.-98-20752_-98-20751delinsAC)
n.5108_5109delinsAC
n.5149_5150delinsAC
17g.43070942delCA16616883BRCA1c.4969del (p.Thr1657ProfsTer19)
c.4972del (p.Thr1658ProfsTer19)
c.4846del (p.Thr1616ProfsTer19)
c.4966del (p.Thr1656ProfsTer19)
c.4894del (p.Thr1632ProfsTer19)
c.1660del (p.Thr554ProfsTer19)
c.1522del (p.Thr508ProfsTer19)
c.4084del (p.Thr1362ProfsTer19)
c.4849del (p.Thr1617ProfsTer19)
c.5038del (p.Thr1680ProfsTer19)
c.4831del (p.Thr1611ProfsTer19)
c.1534del (p.Thr512ProfsTer19)
c.1579del (p.Thr527ProfsTer6)
c.5035del (p.Thr1679ProfsTer19)
c.1359del
c.1546del (p.Thr516ProfsTer19)
c.*4755del (n.*4755del)
n.125del
c.1285del (p.Thr429ProfsTer19)
c.5-6991del (n.5-6991del)
c.445del (p.Thr149ProfsTer19)
c.-98-20752del (n.-98-20752del)
n.5108del
n.5149del
 ClinVar dbSNP
17g.43070942T>ACA10591582BRCA1c.4969A>T (p.Thr1657Ser)
c.4972A>T (p.Thr1658Ser)
c.4846A>T (p.Thr1616Ser)
c.4966A>T (p.Thr1656Ser)
c.4894A>T (p.Thr1632Ser)
c.1660A>T (p.Thr554Ser)
c.1522A>T (p.Thr508Ser)
c.4084A>T (p.Thr1362Ser)
c.4849A>T (p.Thr1617Ser)
c.5038A>T (p.Thr1680Ser)
c.4831A>T (p.Thr1611Ser)
c.1534A>T (p.Thr512Ser)
c.1579A>T (p.Thr527Ser)
c.5035A>T (p.Thr1679Ser)
c.1359A>T
c.1546A>T (p.Thr516Ser)
c.*4755A>T (n.*4755A>T)
n.125A>T
c.1285A>T (p.Thr429Ser)
c.5-6991A>T (n.5-6991A>T)
c.445A>T (p.Thr149Ser)
c.-98-20752A>T (n.-98-20752A>T)
n.5108A>T
n.5149A>T
 ClinVar dbSNP
17g.43070942T>CCA10591583BRCA1c.4969A>G (p.Thr1657Ala)
c.4972A>G (p.Thr1658Ala)
c.4846A>G (p.Thr1616Ala)
c.4966A>G (p.Thr1656Ala)
c.4894A>G (p.Thr1632Ala)
c.1660A>G (p.Thr554Ala)
c.1522A>G (p.Thr508Ala)
c.4084A>G (p.Thr1362Ala)
c.4849A>G (p.Thr1617Ala)
c.5038A>G (p.Thr1680Ala)
c.4831A>G (p.Thr1611Ala)
c.1534A>G (p.Thr512Ala)
c.1579A>G (p.Thr527Ala)
c.5035A>G (p.Thr1679Ala)
c.1359A>G
c.1546A>G (p.Thr516Ala)
c.*4755A>G (n.*4755A>G)
n.125A>G
c.1285A>G (p.Thr429Ala)
c.5-6991A>G (n.5-6991A>G)
c.445A>G (p.Thr149Ala)
c.-98-20752A>G (n.-98-20752A>G)
n.5108A>G
n.5149A>G
 ClinVar dbSNP
17g.43070942T>GCA10591584BRCA1c.4969A>C (p.Thr1657Pro)
c.4972A>C (p.Thr1658Pro)
c.4846A>C (p.Thr1616Pro)
c.4966A>C (p.Thr1656Pro)
c.4894A>C (p.Thr1632Pro)
c.1660A>C (p.Thr554Pro)
c.1522A>C (p.Thr508Pro)
c.4084A>C (p.Thr1362Pro)
c.4849A>C (p.Thr1617Pro)
c.5038A>C (p.Thr1680Pro)
c.4831A>C (p.Thr1611Pro)
c.1534A>C (p.Thr512Pro)
c.1579A>C (p.Thr527Pro)
c.5035A>C (p.Thr1679Pro)
c.1359A>C
c.1546A>C (p.Thr516Pro)
c.*4755A>C (n.*4755A>C)
n.125A>C
c.1285A>C (p.Thr429Pro)
c.5-6991A>C (n.5-6991A>C)
c.445A>C (p.Thr149Pro)
c.-98-20752A>C (n.-98-20752A>C)
n.5108A>C
n.5149A>C
 dbSNP
17g.43070942T=CA2260772750BRCA1c.4969A= (p.Thr1657=)
c.4972A= (p.Thr1658=)
c.4846A= (p.Thr1616=)
c.4966A= (p.Thr1656=)
c.4894A= (p.Thr1632=)
c.1660A= (p.Thr554=)
c.1522A= (p.Thr508=)
c.4084A= (p.Thr1362=)
c.4849A= (p.Thr1617=)
c.5038A= (p.Thr1680=)
c.4831A= (p.Thr1611=)
c.1534A= (p.Thr512=)
c.1579A= (p.Thr527=)
c.5035A= (p.Thr1679=)
c.1359A=
c.1546A= (p.Thr516=)
c.*4755A= (n.*4755A=)
n.125A=
c.1285A= (p.Thr429=)
c.5-6991A= (n.5-6991A=)
c.445A= (p.Thr149=)
c.-98-20752A= (n.-98-20752A=)
n.5108A=
n.5149A=
17g.43070943C>ACA500231542BRCA1c.4968G>T (p.Leu1656=)
c.4971G>T (p.Leu1657=)
c.4845G>T (p.Leu1615=)
c.4965G>T (p.Leu1655=)
c.4893G>T (p.Leu1631=)
c.1659G>T (p.Leu553=)
c.1521G>T (p.Leu507=)
c.4083G>T (p.Leu1361=)
c.4848G>T (p.Leu1616=)
c.5037G>T (p.Leu1679=)
c.4830G>T (p.Leu1610=)
c.1533G>T (p.Leu511=)
c.1578G>T (p.Leu526=)
c.5034G>T (p.Leu1678=)
c.1358G>T
c.1545G>T (p.Leu515=)
c.*4754G>T (n.*4754G>T)
n.124G>T
c.1284G>T (p.Leu428=)
c.5-6992G>T (n.5-6992G>T)
c.444G>T (p.Leu148=)
c.-98-20753G>T (n.-98-20753G>T)
n.5107G>T
n.5148G>T
 ClinVar dbSNP
17g.43070943C=CA2260772751BRCA1c.4968G= (p.Leu1656=)
c.4971G= (p.Leu1657=)
c.4845G= (p.Leu1615=)
c.4965G= (p.Leu1655=)
c.4893G= (p.Leu1631=)
c.1659G= (p.Leu553=)
c.1521G= (p.Leu507=)
c.4083G= (p.Leu1361=)
c.4848G= (p.Leu1616=)
c.5037G= (p.Leu1679=)
c.4830G= (p.Leu1610=)
c.1533G= (p.Leu511=)
c.1578G= (p.Leu526=)
c.5034G= (p.Leu1678=)
c.1358G=
c.1545G= (p.Leu515=)
c.*4754G= (n.*4754G=)
n.124G=
c.1284G= (p.Leu428=)
c.5-6992G= (n.5-6992G=)
c.444G= (p.Leu148=)
c.-98-20753G= (n.-98-20753G=)
n.5107G=
n.5148G=
17g.43070943C>GCA348025BRCA1c.4968G>C (p.Leu1656=)
c.4971G>C (p.Leu1657=)
c.4845G>C (p.Leu1615=)
c.4965G>C (p.Leu1655=)
c.4893G>C (p.Leu1631=)
c.1659G>C (p.Leu553=)
c.1521G>C (p.Leu507=)
c.4083G>C (p.Leu1361=)
c.4848G>C (p.Leu1616=)
c.5037G>C (p.Leu1679=)
c.4830G>C (p.Leu1610=)
c.1533G>C (p.Leu511=)
c.1578G>C (p.Leu526=)
c.5034G>C (p.Leu1678=)
c.1358G>C
c.1545G>C (p.Leu515=)
c.*4754G>C (n.*4754G>C)
n.124G>C
c.1284G>C (p.Leu428=)
c.5-6992G>C (n.5-6992G>C)
c.444G>C (p.Leu148=)
c.-98-20753G>C (n.-98-20753G>C)
n.5107G>C
n.5148G>C
 ClinVar dbSNP gnomAD v4
17g.43070943C>TCA003115BRCA1c.4968G>A (p.Leu1656=)
c.4971G>A (p.Leu1657=)
c.4845G>A (p.Leu1615=)
c.4965G>A (p.Leu1655=)
c.4893G>A (p.Leu1631=)
c.1659G>A (p.Leu553=)
c.1521G>A (p.Leu507=)
c.4083G>A (p.Leu1361=)
c.4848G>A (p.Leu1616=)
c.5037G>A (p.Leu1679=)
c.4830G>A (p.Leu1610=)
c.1533G>A (p.Leu511=)
c.1578G>A (p.Leu526=)
c.5034G>A (p.Leu1678=)
c.1358G>A
c.1545G>A (p.Leu515=)
c.*4754G>A (n.*4754G>A)
n.124G>A
c.1284G>A (p.Leu428=)
c.5-6992G>A (n.5-6992G>A)
c.444G>A (p.Leu148=)
c.-98-20753G>A (n.-98-20753G>A)
n.5107G>A
n.5148G>A
 ClinVar dbSNP
17g.43070944A=CA2260772753BRCA1c.4967T= (p.Leu1656=)
c.4970T= (p.Leu1657=)
c.4844T= (p.Leu1615=)
c.4964T= (p.Leu1655=)
c.4892T= (p.Leu1631=)
c.1658T= (p.Leu553=)
c.1520T= (p.Leu507=)
c.4082T= (p.Leu1361=)
c.4847T= (p.Leu1616=)
c.5036T= (p.Leu1679=)
c.4829T= (p.Leu1610=)
c.1532T= (p.Leu511=)
c.1577T= (p.Leu526=)
c.5033T= (p.Leu1678=)
c.1357T=
c.1544T= (p.Leu515=)
c.*4753T= (n.*4753T=)
n.123T=
c.1283T= (p.Leu428=)
c.5-6993T= (n.5-6993T=)
c.443T= (p.Leu148=)
c.-98-20754T= (n.-98-20754T=)
n.5106T=
n.5147T=
17g.43070944A>CCA10591585BRCA1c.4967T>G (p.Leu1656Arg)
c.4970T>G (p.Leu1657Arg)
c.4844T>G (p.Leu1615Arg)
c.4964T>G (p.Leu1655Arg)
c.4892T>G (p.Leu1631Arg)
c.1658T>G (p.Leu553Arg)
c.1520T>G (p.Leu507Arg)
c.4082T>G (p.Leu1361Arg)
c.4847T>G (p.Leu1616Arg)
c.5036T>G (p.Leu1679Arg)
c.4829T>G (p.Leu1610Arg)
c.1532T>G (p.Leu511Arg)
c.1577T>G (p.Leu526Arg)
c.5033T>G (p.Leu1678Arg)
c.1357T>G
c.1544T>G (p.Leu515Arg)
c.*4753T>G (n.*4753T>G)
n.123T>G
c.1283T>G (p.Leu428Arg)
c.5-6993T>G (n.5-6993T>G)
c.443T>G (p.Leu148Arg)
c.-98-20754T>G (n.-98-20754T>G)
n.5106T>G
n.5147T>G
 ClinVar dbSNP
17g.43070944A>GCA10591586BRCA1c.4967T>C (p.Leu1656Pro)
c.4970T>C (p.Leu1657Pro)
c.4844T>C (p.Leu1615Pro)
c.4964T>C (p.Leu1655Pro)
c.4892T>C (p.Leu1631Pro)
c.1658T>C (p.Leu553Pro)
c.1520T>C (p.Leu507Pro)
c.4082T>C (p.Leu1361Pro)
c.4847T>C (p.Leu1616Pro)
c.5036T>C (p.Leu1679Pro)
c.4829T>C (p.Leu1610Pro)
c.1532T>C (p.Leu511Pro)
c.1577T>C (p.Leu526Pro)
c.5033T>C (p.Leu1678Pro)
c.1357T>C
c.1544T>C (p.Leu515Pro)
c.*4753T>C (n.*4753T>C)
n.123T>C
c.1283T>C (p.Leu428Pro)
c.5-6993T>C (n.5-6993T>C)
c.443T>C (p.Leu148Pro)
c.-98-20754T>C (n.-98-20754T>C)
n.5106T>C
n.5147T>C
 ClinVar dbSNP
17g.43070944A>TCA10591587BRCA1c.4967T>A (p.Leu1656Gln)
c.4970T>A (p.Leu1657Gln)
c.4844T>A (p.Leu1615Gln)
c.4964T>A (p.Leu1655Gln)
c.4892T>A (p.Leu1631Gln)
c.1658T>A (p.Leu553Gln)
c.1520T>A (p.Leu507Gln)
c.4082T>A (p.Leu1361Gln)
c.4847T>A (p.Leu1616Gln)
c.5036T>A (p.Leu1679Gln)
c.4829T>A (p.Leu1610Gln)
c.1532T>A (p.Leu511Gln)
c.1577T>A (p.Leu526Gln)
c.5033T>A (p.Leu1678Gln)
c.1357T>A
c.1544T>A (p.Leu515Gln)
c.*4753T>A (n.*4753T>A)
n.123T>A
c.1283T>A (p.Leu428Gln)
c.5-6993T>A (n.5-6993T>A)
c.443T>A (p.Leu148Gln)
c.-98-20754T>A (n.-98-20754T>A)
n.5106T>A
n.5147T>A
 ClinVar dbSNP
17g.43070944_43070945delinsAGCA2260772752BRCA1c.4966_4967delinsCT (p.Leu1656=)
c.4969_4970delinsCT (p.Leu1657=)
c.4843_4844delinsCT (p.Leu1615=)
c.4963_4964delinsCT (p.Leu1655=)
c.4891_4892delinsCT (p.Leu1631=)
c.1657_1658delinsCT (p.Leu553=)
c.1519_1520delinsCT (p.Leu507=)
c.4081_4082delinsCT (p.Leu1361=)
c.4846_4847delinsCT (p.Leu1616=)
c.5035_5036delinsCT (p.Leu1679=)
c.4828_4829delinsCT (p.Leu1610=)
c.1531_1532delinsCT (p.Leu511=)
c.1576_1577delinsCT (p.Leu526=)
c.5032_5033delinsCT (p.Leu1678=)
c.1356_1357delinsCT
c.1543_1544delinsCT (p.Leu515=)
c.*4752_*4753delinsCT (n.*4752_*4753delinsCT)
n.122_123delinsCT
c.1282_1283delinsCT (p.Leu428=)
c.5-6994_5-6993delinsCT (n.5-6994_5-6993delinsCT)
c.442_443delinsCT (p.Leu148=)
c.-98-20755_-98-20754delinsCT (n.-98-20755_-98-20754delinsCT)
n.5105_5106delinsCT
n.5146_5147delinsCT
17g.43070945G>ACA500231547BRCA1c.4966C>T (p.Leu1656=)
c.4969C>T (p.Leu1657=)
c.4843C>T (p.Leu1615=)
c.4963C>T (p.Leu1655=)
c.4891C>T (p.Leu1631=)
c.1657C>T (p.Leu553=)
c.1519C>T (p.Leu507=)
c.4081C>T (p.Leu1361=)
c.4846C>T (p.Leu1616=)
c.5035C>T (p.Leu1679=)
c.4828C>T (p.Leu1610=)
c.1531C>T (p.Leu511=)
c.1576C>T (p.Leu526=)
c.5032C>T (p.Leu1678=)
c.1356C>T
c.1543C>T (p.Leu515=)
c.*4752C>T (n.*4752C>T)
n.122C>T
c.1282C>T (p.Leu428=)
c.5-6994C>T (n.5-6994C>T)
c.442C>T (p.Leu148=)
c.-98-20755C>T (n.-98-20755C>T)
n.5105C>T
n.5146C>T
 ClinVar dbSNP
17g.43070945G>CCA10591588BRCA1c.4966C>G (p.Leu1656Val)
c.4969C>G (p.Leu1657Val)
c.4843C>G (p.Leu1615Val)
c.4963C>G (p.Leu1655Val)
c.4891C>G (p.Leu1631Val)
c.1657C>G (p.Leu553Val)
c.1519C>G (p.Leu507Val)
c.4081C>G (p.Leu1361Val)
c.4846C>G (p.Leu1616Val)
c.5035C>G (p.Leu1679Val)
c.4828C>G (p.Leu1610Val)
c.1531C>G (p.Leu511Val)
c.1576C>G (p.Leu526Val)
c.5032C>G (p.Leu1678Val)
c.1356C>G
c.1543C>G (p.Leu515Val)
c.*4752C>G (n.*4752C>G)
n.122C>G
c.1282C>G (p.Leu428Val)
c.5-6994C>G (n.5-6994C>G)
c.442C>G (p.Leu148Val)
c.-98-20755C>G (n.-98-20755C>G)
n.5105C>G
n.5146C>G
 ClinVar dbSNP
17g.43070945G=CA2260772754BRCA1c.4966C= (p.Leu1656=)
c.4969C= (p.Leu1657=)
c.4843C= (p.Leu1615=)
c.4963C= (p.Leu1655=)
c.4891C= (p.Leu1631=)
c.1657C= (p.Leu553=)
c.1519C= (p.Leu507=)
c.4081C= (p.Leu1361=)
c.4846C= (p.Leu1616=)
c.5035C= (p.Leu1679=)
c.4828C= (p.Leu1610=)
c.1531C= (p.Leu511=)
c.1576C= (p.Leu526=)
c.5032C= (p.Leu1678=)
c.1356C=
c.1543C= (p.Leu515=)
c.*4752C= (n.*4752C=)
n.122C=
c.1282C= (p.Leu428=)
c.5-6994C= (n.5-6994C=)
c.442C= (p.Leu148=)
c.-98-20755C= (n.-98-20755C=)
n.5105C=
n.5146C=
17g.43070945G>TCA10591589BRCA1c.4966C>A (p.Leu1656Met)
c.4969C>A (p.Leu1657Met)
c.4843C>A (p.Leu1615Met)
c.4963C>A (p.Leu1655Met)
c.4891C>A (p.Leu1631Met)
c.1657C>A (p.Leu553Met)
c.1519C>A (p.Leu507Met)
c.4081C>A (p.Leu1361Met)
c.4846C>A (p.Leu1616Met)
c.5035C>A (p.Leu1679Met)
c.4828C>A (p.Leu1610Met)
c.1531C>A (p.Leu511Met)
c.1576C>A (p.Leu526Met)
c.5032C>A (p.Leu1678Met)
c.1356C>A
c.1543C>A (p.Leu515Met)
c.*4752C>A (n.*4752C>A)
n.122C>A
c.1282C>A (p.Leu428Met)
c.5-6994C>A (n.5-6994C>A)
c.442C>A (p.Leu148Met)
c.-98-20755C>A (n.-98-20755C>A)
n.5105C>A
n.5146C>A
 ClinVar dbSNP
17g.43070946delCA10586605BRCA1c.4966del (p.Leu1656Ter)
c.4969del (p.Leu1657Ter)
c.4843del (p.Leu1615Ter)
c.4963del (p.Leu1655Ter)
c.4891del (p.Leu1631Ter)
c.1657del (p.Leu553Ter)
c.1519del (p.Leu507Ter)
c.4081del (p.Leu1361Ter)
c.4846del (p.Leu1616Ter)
c.5035del (p.Leu1679Ter)
c.4828del (p.Leu1610Ter)
c.1531del (p.Leu511Ter)
c.1576del (p.Leu526Ter)
c.5032del (p.Leu1678Ter)
c.1356del
c.1543del (p.Leu515Ter)
c.*4752del (n.*4752del)
n.122del
c.1282del (p.Leu428Ter)
c.5-6994del (n.5-6994del)
c.442del (p.Leu148Ter)
c.-98-20755del (n.-98-20755del)
n.5105del
n.5146del
 ClinVar dbSNP
17g.43070946G>ACA500231549BRCA1c.4965C>T (p.Gly1655=)
c.4968C>T (p.Gly1656=)
c.4842C>T (p.Gly1614=)
c.4962C>T (p.Gly1654=)
c.4890C>T (p.Gly1630=)
c.1656C>T (p.Gly552=)
c.1518C>T (p.Gly506=)
c.4080C>T (p.Gly1360=)
c.4845C>T (p.Gly1615=)
c.5034C>T (p.Gly1678=)
c.4827C>T (p.Gly1609=)
c.1530C>T (p.Gly510=)
c.1575C>T (p.Gly525=)
c.5031C>T (p.Gly1677=)
c.1355C>T
c.1542C>T (p.Gly514=)
c.*4751C>T (n.*4751C>T)
n.121C>T
c.1281C>T (p.Gly427=)
c.5-6995C>T (n.5-6995C>T)
c.441C>T (p.Gly147=)
c.-98-20756C>T (n.-98-20756C>T)
n.5104C>T
n.5145C>T
 ClinVar dbSNP gnomAD v4
17g.43070946G>CCA500231550BRCA1c.4965C>G (p.Gly1655=)
c.4968C>G (p.Gly1656=)
c.4842C>G (p.Gly1614=)
c.4962C>G (p.Gly1654=)
c.4890C>G (p.Gly1630=)
c.1656C>G (p.Gly552=)
c.1518C>G (p.Gly506=)
c.4080C>G (p.Gly1360=)
c.4845C>G (p.Gly1615=)
c.5034C>G (p.Gly1678=)
c.4827C>G (p.Gly1609=)
c.1530C>G (p.Gly510=)
c.1575C>G (p.Gly525=)
c.5031C>G (p.Gly1677=)
c.1355C>G
c.1542C>G (p.Gly514=)
c.*4751C>G (n.*4751C>G)
n.121C>G
c.1281C>G (p.Gly427=)
c.5-6995C>G (n.5-6995C>G)
c.441C>G (p.Gly147=)
c.-98-20756C>G (n.-98-20756C>G)
n.5104C>G
n.5145C>G
 ClinVar dbSNP gnomAD v4
17g.43070946G=CA2260772755BRCA1c.4965C= (p.Gly1655=)
c.4968C= (p.Gly1656=)
c.4842C= (p.Gly1614=)
c.4962C= (p.Gly1654=)
c.4890C= (p.Gly1630=)
c.1656C= (p.Gly552=)
c.1518C= (p.Gly506=)
c.4080C= (p.Gly1360=)
c.4845C= (p.Gly1615=)
c.5034C= (p.Gly1678=)
c.4827C= (p.Gly1609=)
c.1530C= (p.Gly510=)
c.1575C= (p.Gly525=)
c.5031C= (p.Gly1677=)
c.1355C=
c.1542C= (p.Gly514=)
c.*4751C= (n.*4751C=)
n.121C=
c.1281C= (p.Gly427=)
c.5-6995C= (n.5-6995C=)
c.441C= (p.Gly147=)
c.-98-20756C= (n.-98-20756C=)
n.5104C=
n.5145C=
17g.43070946G>TCA500231551BRCA1c.4965C>A (p.Gly1655=)
c.4968C>A (p.Gly1656=)
c.4842C>A (p.Gly1614=)
c.4962C>A (p.Gly1654=)
c.4890C>A (p.Gly1630=)
c.1656C>A (p.Gly552=)
c.1518C>A (p.Gly506=)
c.4080C>A (p.Gly1360=)
c.4845C>A (p.Gly1615=)
c.5034C>A (p.Gly1678=)
c.4827C>A (p.Gly1609=)
c.1530C>A (p.Gly510=)
c.1575C>A (p.Gly525=)
c.5031C>A (p.Gly1677=)
c.1355C>A
c.1542C>A (p.Gly514=)
c.*4751C>A (n.*4751C>A)
n.121C>A
c.1281C>A (p.Gly427=)
c.5-6995C>A (n.5-6995C>A)
c.441C>A (p.Gly147=)
c.-98-20756C>A (n.-98-20756C>A)
n.5104C>A
n.5145C>A
 ClinVar dbSNP
17g.43070947C>ACA10591590BRCA1c.4964G>T (p.Gly1655Val)
c.4967G>T (p.Gly1656Val)
c.4841G>T (p.Gly1614Val)
c.4961G>T (p.Gly1654Val)
c.4889G>T (p.Gly1630Val)
c.1655G>T (p.Gly552Val)
c.1517G>T (p.Gly506Val)
c.4079G>T (p.Gly1360Val)
c.4844G>T (p.Gly1615Val)
c.5033G>T (p.Gly1678Val)
c.4826G>T (p.Gly1609Val)
c.1529G>T (p.Gly510Val)
c.1574G>T (p.Gly525Val)
c.5030G>T (p.Gly1677Val)
c.1354G>T
c.1541G>T (p.Gly514Val)
c.*4750G>T (n.*4750G>T)
n.120G>T
c.1280G>T (p.Gly427Val)
c.5-6996G>T (n.5-6996G>T)
c.440G>T (p.Gly147Val)
c.-98-20757G>T (n.-98-20757G>T)
n.5103G>T
n.5144G>T
 ClinVar dbSNP
17g.43070947C=CA2260772756BRCA1c.4964G= (p.Gly1655=)
c.4967G= (p.Gly1656=)
c.4841G= (p.Gly1614=)
c.4961G= (p.Gly1654=)
c.4889G= (p.Gly1630=)
c.1655G= (p.Gly552=)
c.1517G= (p.Gly506=)
c.4079G= (p.Gly1360=)
c.4844G= (p.Gly1615=)
c.5033G= (p.Gly1678=)
c.4826G= (p.Gly1609=)
c.1529G= (p.Gly510=)
c.1574G= (p.Gly525=)
c.5030G= (p.Gly1677=)
c.1354G=
c.1541G= (p.Gly514=)
c.*4750G= (n.*4750G=)
n.120G=
c.1280G= (p.Gly427=)
c.5-6996G= (n.5-6996G=)
c.440G= (p.Gly147=)
c.-98-20757G= (n.-98-20757G=)
n.5103G=
n.5144G=
17g.43070947C>GCA10591591BRCA1c.4964G>C (p.Gly1655Ala)
c.4967G>C (p.Gly1656Ala)
c.4841G>C (p.Gly1614Ala)
c.4961G>C (p.Gly1654Ala)
c.4889G>C (p.Gly1630Ala)
c.1655G>C (p.Gly552Ala)
c.1517G>C (p.Gly506Ala)
c.4079G>C (p.Gly1360Ala)
c.4844G>C (p.Gly1615Ala)
c.5033G>C (p.Gly1678Ala)
c.4826G>C (p.Gly1609Ala)
c.1529G>C (p.Gly510Ala)
c.1574G>C (p.Gly525Ala)
c.5030G>C (p.Gly1677Ala)
c.1354G>C
c.1541G>C (p.Gly514Ala)
c.*4750G>C (n.*4750G>C)
n.120G>C
c.1280G>C (p.Gly427Ala)
c.5-6996G>C (n.5-6996G>C)
c.440G>C (p.Gly147Ala)
c.-98-20757G>C (n.-98-20757G>C)
n.5103G>C
n.5144G>C
 ClinVar dbSNP
17g.43070947C>TCA003114BRCA1c.4964G>A (p.Gly1655Asp)
c.4967G>A (p.Gly1656Asp)
c.4841G>A (p.Gly1614Asp)
c.4961G>A (p.Gly1654Asp)
c.4889G>A (p.Gly1630Asp)
c.1655G>A (p.Gly552Asp)
c.1517G>A (p.Gly506Asp)
c.4079G>A (p.Gly1360Asp)
c.4844G>A (p.Gly1615Asp)
c.5033G>A (p.Gly1678Asp)
c.4826G>A (p.Gly1609Asp)
c.1529G>A (p.Gly510Asp)
c.1574G>A (p.Gly525Asp)
c.5030G>A (p.Gly1677Asp)
c.1354G>A
c.1541G>A (p.Gly514Asp)
c.*4750G>A (n.*4750G>A)
n.120G>A
c.1280G>A (p.Gly427Asp)
c.5-6996G>A (n.5-6996G>A)
c.440G>A (p.Gly147Asp)
c.-98-20757G>A (n.-98-20757G>A)
n.5103G>A
n.5144G>A
 ClinVar dbSNP
17g.43070948C>ACA10591592BRCA1c.4963G>T (p.Gly1655Cys)
c.4966G>T (p.Gly1656Cys)
c.4840G>T (p.Gly1614Cys)
c.4960G>T (p.Gly1654Cys)
c.4888G>T (p.Gly1630Cys)
c.1654G>T (p.Gly552Cys)
c.1516G>T (p.Gly506Cys)
c.4078G>T (p.Gly1360Cys)
c.4843G>T (p.Gly1615Cys)
c.5032G>T (p.Gly1678Cys)
c.4825G>T (p.Gly1609Cys)
c.1528G>T (p.Gly510Cys)
c.1573G>T (p.Gly525Cys)
c.5029G>T (p.Gly1677Cys)
c.1353G>T
c.1540G>T (p.Gly514Cys)
c.*4749G>T (n.*4749G>T)
n.119G>T
c.1279G>T (p.Gly427Cys)
c.5-6997G>T (n.5-6997G>T)
c.439G>T (p.Gly147Cys)
c.-98-20758G>T (n.-98-20758G>T)
n.5102G>T
n.5143G>T
 ClinVar dbSNP
17g.43070948C=CA2260772757BRCA1c.4963G= (p.Gly1655=)
c.4966G= (p.Gly1656=)
c.4840G= (p.Gly1614=)
c.4960G= (p.Gly1654=)
c.4888G= (p.Gly1630=)
c.1654G= (p.Gly552=)
c.1516G= (p.Gly506=)
c.4078G= (p.Gly1360=)
c.4843G= (p.Gly1615=)
c.5032G= (p.Gly1678=)
c.4825G= (p.Gly1609=)
c.1528G= (p.Gly510=)
c.1573G= (p.Gly525=)
c.5029G= (p.Gly1677=)
c.1353G=
c.1540G= (p.Gly514=)
c.*4749G= (n.*4749G=)
n.119G=
c.1279G= (p.Gly427=)
c.5-6997G= (n.5-6997G=)
c.439G= (p.Gly147=)
c.-98-20758G= (n.-98-20758G=)
n.5102G=
n.5143G=
17g.43070948C>GCA10591593BRCA1c.4963G>C (p.Gly1655Arg)
c.4966G>C (p.Gly1656Arg)
c.4840G>C (p.Gly1614Arg)
c.4960G>C (p.Gly1654Arg)
c.4888G>C (p.Gly1630Arg)
c.1654G>C (p.Gly552Arg)
c.1516G>C (p.Gly506Arg)
c.4078G>C (p.Gly1360Arg)
c.4843G>C (p.Gly1615Arg)
c.5032G>C (p.Gly1678Arg)
c.4825G>C (p.Gly1609Arg)
c.1528G>C (p.Gly510Arg)
c.1573G>C (p.Gly525Arg)
c.5029G>C (p.Gly1677Arg)
c.1353G>C
c.1540G>C (p.Gly514Arg)
c.*4749G>C (n.*4749G>C)
n.119G>C
c.1279G>C (p.Gly427Arg)
c.5-6997G>C (n.5-6997G>C)
c.439G>C (p.Gly147Arg)
c.-98-20758G>C (n.-98-20758G>C)
n.5102G>C
n.5143G>C
 ClinVar dbSNP
17g.43070948C>TCA10591594BRCA1c.4963G>A (p.Gly1655Ser)
c.4966G>A (p.Gly1656Ser)
c.4840G>A (p.Gly1614Ser)
c.4960G>A (p.Gly1654Ser)
c.4888G>A (p.Gly1630Ser)
c.1654G>A (p.Gly552Ser)
c.1516G>A (p.Gly506Ser)
c.4078G>A (p.Gly1360Ser)
c.4843G>A (p.Gly1615Ser)
c.5032G>A (p.Gly1678Ser)
c.4825G>A (p.Gly1609Ser)
c.1528G>A (p.Gly510Ser)
c.1573G>A (p.Gly525Ser)
c.5029G>A (p.Gly1677Ser)
c.1353G>A
c.1540G>A (p.Gly514Ser)
c.*4749G>A (n.*4749G>A)
n.119G>A
c.1279G>A (p.Gly427Ser)
c.5-6997G>A (n.5-6997G>A)
c.439G>A (p.Gly147Ser)
c.-98-20758G>A (n.-98-20758G>A)
n.5102G>A
n.5143G>A
 ClinVar dbSNP
17g.43070948_43070966delCA2499224388BRCA1c.4945_4963del (p.Met1649AlafsTer2)
c.4948_4966del (p.Met1650AlafsTer2)
c.4822_4840del (p.Met1608AlafsTer2)
c.4942_4960del (p.Met1648AlafsTer2)
c.4870_4888del (p.Met1624AlafsTer2)
c.1636_1654del (p.Met546AlafsTer2)
c.1498_1516del (p.Met500AlafsTer2)
c.4060_4078del (p.Met1354AlafsTer2)
c.4825_4843del (p.Met1609AlafsTer2)
c.5014_5032del (p.Met1672AlafsTer2)
c.4807_4825del (p.Met1603AlafsTer2)
c.1510_1528del (p.Met504AlafsTer2)
c.1555_1573del (p.Met519AlafsTer2)
c.5011_5029del (p.Met1671AlafsTer2)
c.1335_1353del
c.1522_1540del (p.Met508AlafsTer2)
c.*4731_*4749del (n.*4731_*4749del)
n.101_119del
c.1261_1279del (p.Met421AlafsTer2)
c.5-7015_5-6997del (n.5-7015_5-6997del)
c.421_439del (p.Met141AlafsTer2)
c.-98-20776_-98-20758del (n.-98-20776_-98-20758del)
n.5084_5102del
n.5125_5143del
 ClinVar dbSNP
17g.43070949A=CA2260772758BRCA1c.4962T= (p.Ser1654=)
c.4965T= (p.Ser1655=)
c.4839T= (p.Ser1613=)
c.4959T= (p.Ser1653=)
c.4887T= (p.Ser1629=)
c.1653T= (p.Ser551=)
c.1515T= (p.Ser505=)
c.4077T= (p.Ser1359=)
c.4842T= (p.Ser1614=)
c.5031T= (p.Ser1677=)
c.4824T= (p.Ser1608=)
c.1527T= (p.Ser509=)
c.1572T= (p.Ser524=)
c.5028T= (p.Ser1676=)
c.1352T=
c.1539T= (p.Ser513=)
c.*4748T= (n.*4748T=)
n.118T=
c.1278T= (p.Ser426=)
c.5-6998T= (n.5-6998T=)
c.438T= (p.Ser146=)
c.-98-20759T= (n.-98-20759T=)
n.5101T=
n.5142T=
17g.43070949A>CCA500231557BRCA1c.4962T>G (p.Ser1654=)
c.4965T>G (p.Ser1655=)
c.4839T>G (p.Ser1613=)
c.4959T>G (p.Ser1653=)
c.4887T>G (p.Ser1629=)
c.1653T>G (p.Ser551=)
c.1515T>G (p.Ser505=)
c.4077T>G (p.Ser1359=)
c.4842T>G (p.Ser1614=)
c.5031T>G (p.Ser1677=)
c.4824T>G (p.Ser1608=)
c.1527T>G (p.Ser509=)
c.1572T>G (p.Ser524=)
c.5028T>G (p.Ser1676=)
c.1352T>G
c.1539T>G (p.Ser513=)
c.*4748T>G (n.*4748T>G)
n.118T>G
c.1278T>G (p.Ser426=)
c.5-6998T>G (n.5-6998T>G)
c.438T>G (p.Ser146=)
c.-98-20759T>G (n.-98-20759T>G)
n.5101T>G
n.5142T>G
 ClinVar dbSNP
17g.43070949A>GCA500231559BRCA1c.4962T>C (p.Ser1654=)
c.4965T>C (p.Ser1655=)
c.4839T>C (p.Ser1613=)
c.4959T>C (p.Ser1653=)
c.4887T>C (p.Ser1629=)
c.1653T>C (p.Ser551=)
c.1515T>C (p.Ser505=)
c.4077T>C (p.Ser1359=)
c.4842T>C (p.Ser1614=)
c.5031T>C (p.Ser1677=)
c.4824T>C (p.Ser1608=)
c.1527T>C (p.Ser509=)
c.1572T>C (p.Ser524=)
c.5028T>C (p.Ser1676=)
c.1352T>C
c.1539T>C (p.Ser513=)
c.*4748T>C (n.*4748T>C)
n.118T>C
c.1278T>C (p.Ser426=)
c.5-6998T>C (n.5-6998T>C)
c.438T>C (p.Ser146=)
c.-98-20759T>C (n.-98-20759T>C)
n.5101T>C
n.5142T>C
 ClinVar dbSNP
17g.43070949A>TCA500231558BRCA1c.4962T>A (p.Ser1654=)
c.4965T>A (p.Ser1655=)
c.4839T>A (p.Ser1613=)
c.4959T>A (p.Ser1653=)
c.4887T>A (p.Ser1629=)
c.1653T>A (p.Ser551=)
c.1515T>A (p.Ser505=)
c.4077T>A (p.Ser1359=)
c.4842T>A (p.Ser1614=)
c.5031T>A (p.Ser1677=)
c.4824T>A (p.Ser1608=)
c.1527T>A (p.Ser509=)
c.1572T>A (p.Ser524=)
c.5028T>A (p.Ser1676=)
c.1352T>A
c.1539T>A (p.Ser513=)
c.*4748T>A (n.*4748T>A)
n.118T>A
c.1278T>A (p.Ser426=)
c.5-6998T>A (n.5-6998T>A)
c.438T>A (p.Ser146=)
c.-98-20759T>A (n.-98-20759T>A)
n.5101T>A
n.5142T>A
 ClinVar dbSNP
17g.43070950G>ACA003111BRCA1c.4961C>T (p.Ser1654Phe)
c.4964C>T (p.Ser1655Phe)
c.4838C>T (p.Ser1613Phe)
c.4958C>T (p.Ser1653Phe)
c.4886C>T (p.Ser1629Phe)
c.1652C>T (p.Ser551Phe)
c.1514C>T (p.Ser505Phe)
c.4076C>T (p.Ser1359Phe)
c.4841C>T (p.Ser1614Phe)
c.5030C>T (p.Ser1677Phe)
c.4823C>T (p.Ser1608Phe)
c.1526C>T (p.Ser509Phe)
c.1571C>T (p.Ser524Phe)
c.5027C>T (p.Ser1676Phe)
c.1351C>T
c.1538C>T (p.Ser513Phe)
c.*4747C>T (n.*4747C>T)
n.117C>T
c.1277C>T (p.Ser426Phe)
c.5-6999C>T (n.5-6999C>T)
c.437C>T (p.Ser146Phe)
c.-98-20760C>T (n.-98-20760C>T)
n.5100C>T
n.5141C>T
 ClinVar dbSNP
17g.43070950G>CCA10591595BRCA1c.4961C>G (p.Ser1654Cys)
c.4964C>G (p.Ser1655Cys)
c.4838C>G (p.Ser1613Cys)
c.4958C>G (p.Ser1653Cys)
c.4886C>G (p.Ser1629Cys)
c.1652C>G (p.Ser551Cys)
c.1514C>G (p.Ser505Cys)
c.4076C>G (p.Ser1359Cys)
c.4841C>G (p.Ser1614Cys)
c.5030C>G (p.Ser1677Cys)
c.4823C>G (p.Ser1608Cys)
c.1526C>G (p.Ser509Cys)
c.1571C>G (p.Ser524Cys)
c.5027C>G (p.Ser1676Cys)
c.1351C>G
c.1538C>G (p.Ser513Cys)
c.*4747C>G (n.*4747C>G)
n.117C>G
c.1277C>G (p.Ser426Cys)
c.5-6999C>G (n.5-6999C>G)
c.437C>G (p.Ser146Cys)
c.-98-20760C>G (n.-98-20760C>G)
n.5100C>G
n.5141C>G
 ClinVar dbSNP
17g.43070950G=CA2260772759BRCA1c.4961C= (p.Ser1654=)
c.4964C= (p.Ser1655=)
c.4838C= (p.Ser1613=)
c.4958C= (p.Ser1653=)
c.4886C= (p.Ser1629=)
c.1652C= (p.Ser551=)
c.1514C= (p.Ser505=)
c.4076C= (p.Ser1359=)
c.4841C= (p.Ser1614=)
c.5030C= (p.Ser1677=)
c.4823C= (p.Ser1608=)
c.1526C= (p.Ser509=)
c.1571C= (p.Ser524=)
c.5027C= (p.Ser1676=)
c.1351C=
c.1538C= (p.Ser513=)
c.*4747C= (n.*4747C=)
n.117C=
c.1277C= (p.Ser426=)
c.5-6999C= (n.5-6999C=)
c.437C= (p.Ser146=)
c.-98-20760C= (n.-98-20760C=)
n.5100C=
n.5141C=
17g.43070950G>TCA10591596BRCA1c.4961C>A (p.Ser1654Tyr)
c.4964C>A (p.Ser1655Tyr)
c.4838C>A (p.Ser1613Tyr)
c.4958C>A (p.Ser1653Tyr)
c.4886C>A (p.Ser1629Tyr)
c.1652C>A (p.Ser551Tyr)
c.1514C>A (p.Ser505Tyr)
c.4076C>A (p.Ser1359Tyr)
c.4841C>A (p.Ser1614Tyr)
c.5030C>A (p.Ser1677Tyr)
c.4823C>A (p.Ser1608Tyr)
c.1526C>A (p.Ser509Tyr)
c.1571C>A (p.Ser524Tyr)
c.5027C>A (p.Ser1676Tyr)
c.1351C>A
c.1538C>A (p.Ser513Tyr)
c.*4747C>A (n.*4747C>A)
n.117C>A
c.1277C>A (p.Ser426Tyr)
c.5-6999C>A (n.5-6999C>A)
c.437C>A (p.Ser146Tyr)
c.-98-20760C>A (n.-98-20760C>A)
n.5100C>A
n.5141C>A
 ClinVar dbSNP
17g.43070951delCA2695225903BRCA1c.4960del (p.Ser1654LeufsTer3)
c.4963del (p.Ser1655LeufsTer3)
c.4837del (p.Ser1613LeufsTer3)
c.4957del (p.Ser1653LeufsTer3)
c.4885del (p.Ser1629LeufsTer3)
c.1651del (p.Ser551LeufsTer3)
c.1513del (p.Ser505LeufsTer3)
c.4075del (p.Ser1359LeufsTer3)
c.4840del (p.Ser1614LeufsTer3)
c.5029del (p.Ser1677LeufsTer3)
c.4822del (p.Ser1608LeufsTer3)
c.1525del (p.Ser509LeufsTer3)
c.1570del (p.Ser524LeufsTer3)
c.5026del (p.Ser1676LeufsTer3)
c.1350del
c.1537del (p.Ser513LeufsTer3)
c.*4746del (n.*4746del)
n.116del
c.1276del (p.Ser426LeufsTer3)
c.5-7000del (n.5-7000del)
c.436del (p.Ser146LeufsTer3)
c.-98-20761del (n.-98-20761del)
n.5099del
n.5140del
17g.43070951A=CA2260772760BRCA1c.4960T= (p.Ser1654=)
c.4963T= (p.Ser1655=)
c.4837T= (p.Ser1613=)
c.4957T= (p.Ser1653=)
c.4885T= (p.Ser1629=)
c.1651T= (p.Ser551=)
c.1513T= (p.Ser505=)
c.4075T= (p.Ser1359=)
c.4840T= (p.Ser1614=)
c.5029T= (p.Ser1677=)
c.4822T= (p.Ser1608=)
c.1525T= (p.Ser509=)
c.1570T= (p.Ser524=)
c.5026T= (p.Ser1676=)
c.1350T=
c.1537T= (p.Ser513=)
c.*4746T= (n.*4746T=)
n.116T=
c.1276T= (p.Ser426=)
c.5-7000T= (n.5-7000T=)
c.436T= (p.Ser146=)
c.-98-20761T= (n.-98-20761T=)
n.5099T=
n.5140T=
17g.43070951A>CCA10591597BRCA1c.4960T>G (p.Ser1654Ala)
c.4963T>G (p.Ser1655Ala)
c.4837T>G (p.Ser1613Ala)
c.4957T>G (p.Ser1653Ala)
c.4885T>G (p.Ser1629Ala)
c.1651T>G (p.Ser551Ala)
c.1513T>G (p.Ser505Ala)
c.4075T>G (p.Ser1359Ala)
c.4840T>G (p.Ser1614Ala)
c.5029T>G (p.Ser1677Ala)
c.4822T>G (p.Ser1608Ala)
c.1525T>G (p.Ser509Ala)
c.1570T>G (p.Ser524Ala)
c.5026T>G (p.Ser1676Ala)
c.1350T>G
c.1537T>G (p.Ser513Ala)
c.*4746T>G (n.*4746T>G)
n.116T>G
c.1276T>G (p.Ser426Ala)
c.5-7000T>G (n.5-7000T>G)
c.436T>G (p.Ser146Ala)
c.-98-20761T>G (n.-98-20761T>G)
n.5099T>G
n.5140T>G
 ClinVar dbSNP
17g.43070951A>GCA10591598BRCA1c.4960T>C (p.Ser1654Pro)
c.4963T>C (p.Ser1655Pro)
c.4837T>C (p.Ser1613Pro)
c.4957T>C (p.Ser1653Pro)
c.4885T>C (p.Ser1629Pro)
c.1651T>C (p.Ser551Pro)
c.1513T>C (p.Ser505Pro)
c.4075T>C (p.Ser1359Pro)
c.4840T>C (p.Ser1614Pro)
c.5029T>C (p.Ser1677Pro)
c.4822T>C (p.Ser1608Pro)
c.1525T>C (p.Ser509Pro)
c.1570T>C (p.Ser524Pro)
c.5026T>C (p.Ser1676Pro)
c.1350T>C
c.1537T>C (p.Ser513Pro)
c.*4746T>C (n.*4746T>C)
n.116T>C
c.1276T>C (p.Ser426Pro)
c.5-7000T>C (n.5-7000T>C)
c.436T>C (p.Ser146Pro)
c.-98-20761T>C (n.-98-20761T>C)
n.5099T>C
n.5140T>C
 ClinVar dbSNP
17g.43070951A>TCA10591599BRCA1c.4960T>A (p.Ser1654Thr)
c.4963T>A (p.Ser1655Thr)
c.4837T>A (p.Ser1613Thr)
c.4957T>A (p.Ser1653Thr)
c.4885T>A (p.Ser1629Thr)
c.1651T>A (p.Ser551Thr)
c.1513T>A (p.Ser505Thr)
c.4075T>A (p.Ser1359Thr)
c.4840T>A (p.Ser1614Thr)
c.5029T>A (p.Ser1677Thr)
c.4822T>A (p.Ser1608Thr)
c.1525T>A (p.Ser509Thr)
c.1570T>A (p.Ser524Thr)
c.5026T>A (p.Ser1676Thr)
c.1350T>A
c.1537T>A (p.Ser513Thr)
c.*4746T>A (n.*4746T>A)
n.116T>A
c.1276T>A (p.Ser426Thr)
c.5-7000T>A (n.5-7000T>A)
c.436T>A (p.Ser146Thr)
c.-98-20761T>A (n.-98-20761T>A)
n.5099T>A
n.5140T>A
 ClinVar dbSNP
17g.43070952C>ACA500231563BRCA1c.4959G>T (p.Val1653=)
c.4962G>T (p.Val1654=)
c.4836G>T (p.Val1612=)
c.4956G>T (p.Val1652=)
c.4884G>T (p.Val1628=)
c.1650G>T (p.Val550=)
c.1512G>T (p.Val504=)
c.4074G>T (p.Val1358=)
c.4839G>T (p.Val1613=)
c.5028G>T (p.Val1676=)
c.4821G>T (p.Val1607=)
c.1524G>T (p.Val508=)
c.1569G>T (p.Val523=)
c.5025G>T (p.Val1675=)
c.1349G>T
c.1536G>T (p.Val512=)
c.*4745G>T (n.*4745G>T)
n.115G>T
c.1275G>T (p.Val425=)
c.5-7001G>T (n.5-7001G>T)
c.435G>T (p.Val145=)
c.-98-20762G>T (n.-98-20762G>T)
n.5098G>T
n.5139G>T
 ClinVar dbSNP
17g.43070952C=CA2260772761BRCA1c.4959G= (p.Val1653=)
c.4962G= (p.Val1654=)
c.4836G= (p.Val1612=)
c.4956G= (p.Val1652=)
c.4884G= (p.Val1628=)
c.1650G= (p.Val550=)
c.1512G= (p.Val504=)
c.4074G= (p.Val1358=)
c.4839G= (p.Val1613=)
c.5028G= (p.Val1676=)
c.4821G= (p.Val1607=)
c.1524G= (p.Val508=)
c.1569G= (p.Val523=)
c.5025G= (p.Val1675=)
c.1349G=
c.1536G= (p.Val512=)
c.*4745G= (n.*4745G=)
n.115G=
c.1275G= (p.Val425=)
c.5-7001G= (n.5-7001G=)
c.435G= (p.Val145=)
c.-98-20762G= (n.-98-20762G=)
n.5098G=
n.5139G=
17g.43070952C>GCA500231562BRCA1c.4959G>C (p.Val1653=)
c.4962G>C (p.Val1654=)
c.4836G>C (p.Val1612=)
c.4956G>C (p.Val1652=)
c.4884G>C (p.Val1628=)
c.1650G>C (p.Val550=)
c.1512G>C (p.Val504=)
c.4074G>C (p.Val1358=)
c.4839G>C (p.Val1613=)
c.5028G>C (p.Val1676=)
c.4821G>C (p.Val1607=)
c.1524G>C (p.Val508=)
c.1569G>C (p.Val523=)
c.5025G>C (p.Val1675=)
c.1349G>C
c.1536G>C (p.Val512=)
c.*4745G>C (n.*4745G>C)
n.115G>C
c.1275G>C (p.Val425=)
c.5-7001G>C (n.5-7001G>C)
c.435G>C (p.Val145=)
c.-98-20762G>C (n.-98-20762G>C)
n.5098G>C
n.5139G>C
 ClinVar dbSNP
17g.43070952C>TCA053497BRCA1c.4959G>A (p.Val1653=)
c.4962G>A (p.Val1654=)
c.4836G>A (p.Val1612=)
c.4956G>A (p.Val1652=)
c.4884G>A (p.Val1628=)
c.1650G>A (p.Val550=)
c.1512G>A (p.Val504=)
c.4074G>A (p.Val1358=)
c.4839G>A (p.Val1613=)
c.5028G>A (p.Val1676=)
c.4821G>A (p.Val1607=)
c.1524G>A (p.Val508=)
c.1569G>A (p.Val523=)
c.5025G>A (p.Val1675=)
c.1349G>A
c.1536G>A (p.Val512=)
c.*4745G>A (n.*4745G>A)
n.115G>A
c.1275G>A (p.Val425=)
c.5-7001G>A (n.5-7001G>A)
c.435G>A (p.Val145=)
c.-98-20762G>A (n.-98-20762G>A)
n.5098G>A
n.5139G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43070953A=CA2260772762BRCA1c.4958T= (p.Val1653=)
c.4961T= (p.Val1654=)
c.4835T= (p.Val1612=)
c.4955T= (p.Val1652=)
c.4883T= (p.Val1628=)
c.1649T= (p.Val550=)
c.1511T= (p.Val504=)
c.4073T= (p.Val1358=)
c.4838T= (p.Val1613=)
c.5027T= (p.Val1676=)
c.4820T= (p.Val1607=)
c.1523T= (p.Val508=)
c.1568T= (p.Val523=)
c.5024T= (p.Val1675=)
c.1348T=
c.1535T= (p.Val512=)
c.*4744T= (n.*4744T=)
n.114T=
c.1274T= (p.Val425=)
c.5-7002T= (n.5-7002T=)
c.434T= (p.Val145=)
c.-98-20763T= (n.-98-20763T=)
n.5097T=
n.5138T=
17g.43070953A>CCA10591600BRCA1c.4958T>G (p.Val1653Gly)
c.4961T>G (p.Val1654Gly)
c.4835T>G (p.Val1612Gly)
c.4955T>G (p.Val1652Gly)
c.4883T>G (p.Val1628Gly)
c.1649T>G (p.Val550Gly)
c.1511T>G (p.Val504Gly)
c.4073T>G (p.Val1358Gly)
c.4838T>G (p.Val1613Gly)
c.5027T>G (p.Val1676Gly)
c.4820T>G (p.Val1607Gly)
c.1523T>G (p.Val508Gly)
c.1568T>G (p.Val523Gly)
c.5024T>G (p.Val1675Gly)
c.1348T>G
c.1535T>G (p.Val512Gly)
c.*4744T>G (n.*4744T>G)
n.114T>G
c.1274T>G (p.Val425Gly)
c.5-7002T>G (n.5-7002T>G)
c.434T>G (p.Val145Gly)
c.-98-20763T>G (n.-98-20763T>G)
n.5097T>G
n.5138T>G
 ClinVar dbSNP
17g.43070953A>GCA10591601BRCA1c.4958T>C (p.Val1653Ala)
c.4961T>C (p.Val1654Ala)
c.4835T>C (p.Val1612Ala)
c.4955T>C (p.Val1652Ala)
c.4883T>C (p.Val1628Ala)
c.1649T>C (p.Val550Ala)
c.1511T>C (p.Val504Ala)
c.4073T>C (p.Val1358Ala)
c.4838T>C (p.Val1613Ala)
c.5027T>C (p.Val1676Ala)
c.4820T>C (p.Val1607Ala)
c.1523T>C (p.Val508Ala)
c.1568T>C (p.Val523Ala)
c.5024T>C (p.Val1675Ala)
c.1348T>C
c.1535T>C (p.Val512Ala)
c.*4744T>C (n.*4744T>C)
n.114T>C
c.1274T>C (p.Val425Ala)
c.5-7002T>C (n.5-7002T>C)
c.434T>C (p.Val145Ala)
c.-98-20763T>C (n.-98-20763T>C)
n.5097T>C
n.5138T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43070953A>TCA10591602BRCA1c.4958T>A (p.Val1653Glu)
c.4961T>A (p.Val1654Glu)
c.4835T>A (p.Val1612Glu)
c.4955T>A (p.Val1652Glu)
c.4883T>A (p.Val1628Glu)
c.1649T>A (p.Val550Glu)
c.1511T>A (p.Val504Glu)
c.4073T>A (p.Val1358Glu)
c.4838T>A (p.Val1613Glu)
c.5027T>A (p.Val1676Glu)
c.4820T>A (p.Val1607Glu)
c.1523T>A (p.Val508Glu)
c.1568T>A (p.Val523Glu)
c.5024T>A (p.Val1675Glu)
c.1348T>A
c.1535T>A (p.Val512Glu)
c.*4744T>A (n.*4744T>A)
n.114T>A
c.1274T>A (p.Val425Glu)
c.5-7002T>A (n.5-7002T>A)
c.434T>A (p.Val145Glu)
c.-98-20763T>A (n.-98-20763T>A)
n.5097T>A
n.5138T>A
 ClinVar dbSNP
17g.43070954C>ACA10591603BRCA1c.4957G>T (p.Val1653Leu)
c.4960G>T (p.Val1654Leu)
c.4834G>T (p.Val1612Leu)
c.4954G>T (p.Val1652Leu)
c.4882G>T (p.Val1628Leu)
c.1648G>T (p.Val550Leu)
c.1510G>T (p.Val504Leu)
c.4072G>T (p.Val1358Leu)
c.4837G>T (p.Val1613Leu)
c.5026G>T (p.Val1676Leu)
c.4819G>T (p.Val1607Leu)
c.1522G>T (p.Val508Leu)
c.1567G>T (p.Val523Leu)
c.5023G>T (p.Val1675Leu)
c.1347G>T
c.1534G>T (p.Val512Leu)
c.*4743G>T (n.*4743G>T)
n.113G>T
c.1273G>T (p.Val425Leu)
c.5-7003G>T (n.5-7003G>T)
c.433G>T (p.Val145Leu)
c.-98-20764G>T (n.-98-20764G>T)
n.5096G>T
n.5137G>T
 ClinVar dbSNP
17g.43070954C=CA2260772763BRCA1c.4957G= (p.Val1653=)
c.4960G= (p.Val1654=)
c.4834G= (p.Val1612=)
c.4954G= (p.Val1652=)
c.4882G= (p.Val1628=)
c.1648G= (p.Val550=)
c.1510G= (p.Val504=)
c.4072G= (p.Val1358=)
c.4837G= (p.Val1613=)
c.5026G= (p.Val1676=)
c.4819G= (p.Val1607=)
c.1522G= (p.Val508=)
c.1567G= (p.Val523=)
c.5023G= (p.Val1675=)
c.1347G=
c.1534G= (p.Val512=)
c.*4743G= (n.*4743G=)
n.113G=
c.1273G= (p.Val425=)
c.5-7003G= (n.5-7003G=)
c.433G= (p.Val145=)
c.-98-20764G= (n.-98-20764G=)
n.5096G=
n.5137G=
17g.43070954C>GCA10591604BRCA1c.4957G>C (p.Val1653Leu)
c.4960G>C (p.Val1654Leu)
c.4834G>C (p.Val1612Leu)
c.4954G>C (p.Val1652Leu)
c.4882G>C (p.Val1628Leu)
c.1648G>C (p.Val550Leu)
c.1510G>C (p.Val504Leu)
c.4072G>C (p.Val1358Leu)
c.4837G>C (p.Val1613Leu)
c.5026G>C (p.Val1676Leu)
c.4819G>C (p.Val1607Leu)
c.1522G>C (p.Val508Leu)
c.1567G>C (p.Val523Leu)
c.5023G>C (p.Val1675Leu)
c.1347G>C
c.1534G>C (p.Val512Leu)
c.*4743G>C (n.*4743G>C)
n.113G>C
c.1273G>C (p.Val425Leu)
c.5-7003G>C (n.5-7003G>C)
c.433G>C (p.Val145Leu)
c.-98-20764G>C (n.-98-20764G>C)
n.5096G>C
n.5137G>C
 ClinVar dbSNP
17g.43070954C>TCA10591605BRCA1c.4957G>A (p.Val1653Met)
c.4960G>A (p.Val1654Met)
c.4834G>A (p.Val1612Met)
c.4954G>A (p.Val1652Met)
c.4882G>A (p.Val1628Met)
c.1648G>A (p.Val550Met)
c.1510G>A (p.Val504Met)
c.4072G>A (p.Val1358Met)
c.4837G>A (p.Val1613Met)
c.5026G>A (p.Val1676Met)
c.4819G>A (p.Val1607Met)
c.1522G>A (p.Val508Met)
c.1567G>A (p.Val523Met)
c.5023G>A (p.Val1675Met)
c.1347G>A
c.1534G>A (p.Val512Met)
c.*4743G>A (n.*4743G>A)
n.113G>A
c.1273G>A (p.Val425Met)
c.5-7003G>A (n.5-7003G>A)
c.433G>A (p.Val145Met)
c.-98-20764G>A (n.-98-20764G>A)
n.5096G>A
n.5137G>A
 ClinVar dbSNP
17g.43070955C>ACA500231570BRCA1c.4956G>T (p.Val1652=)
c.4959G>T (p.Val1653=)
c.4833G>T (p.Val1611=)
c.4953G>T (p.Val1651=)
c.4881G>T (p.Val1627=)
c.1647G>T (p.Val549=)
c.1509G>T (p.Val503=)
c.4071G>T (p.Val1357=)
c.4836G>T (p.Val1612=)
c.5025G>T (p.Val1675=)
c.4818G>T (p.Val1606=)
c.1521G>T (p.Val507=)
c.1566G>T (p.Val522=)
c.5022G>T (p.Val1674=)
c.1346G>T
c.1533G>T (p.Val511=)
c.*4742G>T (n.*4742G>T)
n.112G>T
c.1272G>T (p.Val424=)
c.5-7004G>T (n.5-7004G>T)
c.432G>T (p.Val144=)
c.-98-20765G>T (n.-98-20765G>T)
n.5095G>T
n.5136G>T
 ClinVar dbSNP
17g.43070955C=CA2260772764BRCA1c.4956G= (p.Val1652=)
c.4959G= (p.Val1653=)
c.4833G= (p.Val1611=)
c.4953G= (p.Val1651=)
c.4881G= (p.Val1627=)
c.1647G= (p.Val549=)
c.1509G= (p.Val503=)
c.4071G= (p.Val1357=)
c.4836G= (p.Val1612=)
c.5025G= (p.Val1675=)
c.4818G= (p.Val1606=)
c.1521G= (p.Val507=)
c.1566G= (p.Val522=)
c.5022G= (p.Val1674=)
c.1346G=
c.1533G= (p.Val511=)
c.*4742G= (n.*4742G=)
n.112G=
c.1272G= (p.Val424=)
c.5-7004G= (n.5-7004G=)
c.432G= (p.Val144=)
c.-98-20765G= (n.-98-20765G=)
n.5095G=
n.5136G=
17g.43070955C>GCA500231571BRCA1c.4956G>C (p.Val1652=)
c.4959G>C (p.Val1653=)
c.4833G>C (p.Val1611=)
c.4953G>C (p.Val1651=)
c.4881G>C (p.Val1627=)
c.1647G>C (p.Val549=)
c.1509G>C (p.Val503=)
c.4071G>C (p.Val1357=)
c.4836G>C (p.Val1612=)
c.5025G>C (p.Val1675=)
c.4818G>C (p.Val1606=)
c.1521G>C (p.Val507=)
c.1566G>C (p.Val522=)
c.5022G>C (p.Val1674=)
c.1346G>C
c.1533G>C (p.Val511=)
c.*4742G>C (n.*4742G>C)
n.112G>C
c.1272G>C (p.Val424=)
c.5-7004G>C (n.5-7004G>C)
c.432G>C (p.Val144=)
c.-98-20765G>C (n.-98-20765G>C)
n.5095G>C
n.5136G>C
 ClinVar dbSNP
17g.43070955C>TCA10583556BRCA1c.4956G>A (p.Val1652=)
c.4959G>A (p.Val1653=)
c.4833G>A (p.Val1611=)
c.4953G>A (p.Val1651=)
c.4881G>A (p.Val1627=)
c.1647G>A (p.Val549=)
c.1509G>A (p.Val503=)
c.4071G>A (p.Val1357=)
c.4836G>A (p.Val1612=)
c.5025G>A (p.Val1675=)
c.4818G>A (p.Val1606=)
c.1521G>A (p.Val507=)
c.1566G>A (p.Val522=)
c.5022G>A (p.Val1674=)
c.1346G>A
c.1533G>A (p.Val511=)
c.*4742G>A (n.*4742G>A)
n.112G>A
c.1272G>A (p.Val424=)
c.5-7004G>A (n.5-7004G>A)
c.432G>A (p.Val144=)
c.-98-20765G>A (n.-98-20765G>A)
n.5095G>A
n.5136G>A
 ClinVar dbSNP
17g.43070956_43070957delCA2697559919BRCA1c.4955_4956del (p.Val1652GlyfsTer25)
c.4958_4959del (p.Val1653GlyfsTer25)
c.4832_4833del (p.Val1611GlyfsTer25)
c.4952_4953del (p.Val1651GlyfsTer25)
c.4880_4881del (p.Val1627GlyfsTer25)
c.1646_1647del (p.Val549GlyfsTer25)
c.1508_1509del (p.Val503GlyfsTer25)
c.4070_4071del (p.Val1357GlyfsTer25)
c.4835_4836del (p.Val1612GlyfsTer25)
c.5024_5025del (p.Val1675GlyfsTer25)
c.4817_4818del (p.Val1606GlyfsTer25)
c.1520_1521del (p.Val507GlyfsTer25)
c.1565_1566del (p.Val522GlyfsTer21)
c.5021_5022del (p.Val1674GlyfsTer25)
c.1345_1346del
c.1532_1533del (p.Val511GlyfsTer25)
c.*4741_*4742del (n.*4741_*4742del)
n.111_112del
c.1271_1272del (p.Val424GlyfsTer25)
c.5-7005_5-7004del (n.5-7005_5-7004del)
c.431_432del (p.Val144GlyfsTer25)
c.-98-20766_-98-20765del (n.-98-20766_-98-20765del)
n.5094_5095del
n.5135_5136del
 ClinVar
17g.43070956A=CA2260772765BRCA1c.4955T= (p.Val1652=)
c.4958T= (p.Val1653=)
c.4832T= (p.Val1611=)
c.4952T= (p.Val1651=)
c.4880T= (p.Val1627=)
c.1646T= (p.Val549=)
c.1508T= (p.Val503=)
c.4070T= (p.Val1357=)
c.4835T= (p.Val1612=)
c.5024T= (p.Val1675=)
c.4817T= (p.Val1606=)
c.1520T= (p.Val507=)
c.1565T= (p.Val522=)
c.5021T= (p.Val1674=)
c.1345T=
c.1532T= (p.Val511=)
c.*4741T= (n.*4741T=)
n.111T=
c.1271T= (p.Val424=)
c.5-7005T= (n.5-7005T=)
c.431T= (p.Val144=)
c.-98-20766T= (n.-98-20766T=)
n.5094T=
n.5135T=
17g.43070956A>CCA10591606BRCA1c.4955T>G (p.Val1652Gly)
c.4958T>G (p.Val1653Gly)
c.4832T>G (p.Val1611Gly)
c.4952T>G (p.Val1651Gly)
c.4880T>G (p.Val1627Gly)
c.1646T>G (p.Val549Gly)
c.1508T>G (p.Val503Gly)
c.4070T>G (p.Val1357Gly)
c.4835T>G (p.Val1612Gly)
c.5024T>G (p.Val1675Gly)
c.4817T>G (p.Val1606Gly)
c.1520T>G (p.Val507Gly)
c.1565T>G (p.Val522Gly)
c.5021T>G (p.Val1674Gly)
c.1345T>G
c.1532T>G (p.Val511Gly)
c.*4741T>G (n.*4741T>G)
n.111T>G
c.1271T>G (p.Val424Gly)
c.5-7005T>G (n.5-7005T>G)
c.431T>G (p.Val144Gly)
c.-98-20766T>G (n.-98-20766T>G)
n.5094T>G
n.5135T>G
 ClinVar dbSNP
17g.43070956A>GCA10591607BRCA1c.4955T>C (p.Val1652Ala)
c.4958T>C (p.Val1653Ala)
c.4832T>C (p.Val1611Ala)
c.4952T>C (p.Val1651Ala)
c.4880T>C (p.Val1627Ala)
c.1646T>C (p.Val549Ala)
c.1508T>C (p.Val503Ala)
c.4070T>C (p.Val1357Ala)
c.4835T>C (p.Val1612Ala)
c.5024T>C (p.Val1675Ala)
c.4817T>C (p.Val1606Ala)
c.1520T>C (p.Val507Ala)
c.1565T>C (p.Val522Ala)
c.5021T>C (p.Val1674Ala)
c.1345T>C
c.1532T>C (p.Val511Ala)
c.*4741T>C (n.*4741T>C)
n.111T>C
c.1271T>C (p.Val424Ala)
c.5-7005T>C (n.5-7005T>C)
c.431T>C (p.Val144Ala)
c.-98-20766T>C (n.-98-20766T>C)
n.5094T>C
n.5135T>C
 ClinVar dbSNP
17g.43070956A>TCA10591608BRCA1c.4955T>A (p.Val1652Glu)
c.4958T>A (p.Val1653Glu)
c.4832T>A (p.Val1611Glu)
c.4952T>A (p.Val1651Glu)
c.4880T>A (p.Val1627Glu)
c.1646T>A (p.Val549Glu)
c.1508T>A (p.Val503Glu)
c.4070T>A (p.Val1357Glu)
c.4835T>A (p.Val1612Glu)
c.5024T>A (p.Val1675Glu)
c.4817T>A (p.Val1606Glu)
c.1520T>A (p.Val507Glu)
c.1565T>A (p.Val522Glu)
c.5021T>A (p.Val1674Glu)
c.1345T>A
c.1532T>A (p.Val511Glu)
c.*4741T>A (n.*4741T>A)
n.111T>A
c.1271T>A (p.Val424Glu)
c.5-7005T>A (n.5-7005T>A)
c.431T>A (p.Val144Glu)
c.-98-20766T>A (n.-98-20766T>A)
n.5094T>A
n.5135T>A
 ClinVar dbSNP
17g.43070957C>ACA10591609BRCA1c.4954G>T (p.Val1652Leu)
c.4957G>T (p.Val1653Leu)
c.4831G>T (p.Val1611Leu)
c.4951G>T (p.Val1651Leu)
c.4879G>T (p.Val1627Leu)
c.1645G>T (p.Val549Leu)
c.1507G>T (p.Val503Leu)
c.4069G>T (p.Val1357Leu)
c.4834G>T (p.Val1612Leu)
c.5023G>T (p.Val1675Leu)
c.4816G>T (p.Val1606Leu)
c.1519G>T (p.Val507Leu)
c.1564G>T (p.Val522Leu)
c.5020G>T (p.Val1674Leu)
c.1344G>T
c.1531G>T (p.Val511Leu)
c.*4740G>T (n.*4740G>T)
n.110G>T
c.1270G>T (p.Val424Leu)
c.5-7006G>T (n.5-7006G>T)
c.430G>T (p.Val144Leu)
c.-98-20767G>T (n.-98-20767G>T)
n.5093G>T
n.5134G>T
 ClinVar dbSNP gnomAD v4
17g.43070957C=CA2260772766BRCA1c.4954G= (p.Val1652=)
c.4957G= (p.Val1653=)
c.4831G= (p.Val1611=)
c.4951G= (p.Val1651=)
c.4879G= (p.Val1627=)
c.1645G= (p.Val549=)
c.1507G= (p.Val503=)
c.4069G= (p.Val1357=)
c.4834G= (p.Val1612=)
c.5023G= (p.Val1675=)
c.4816G= (p.Val1606=)
c.1519G= (p.Val507=)
c.1564G= (p.Val522=)
c.5020G= (p.Val1674=)
c.1344G=
c.1531G= (p.Val511=)
c.*4740G= (n.*4740G=)
n.110G=
c.1270G= (p.Val424=)
c.5-7006G= (n.5-7006G=)
c.430G= (p.Val144=)
c.-98-20767G= (n.-98-20767G=)
n.5093G=
n.5134G=
17g.43070957C>GCA10591610BRCA1c.4954G>C (p.Val1652Leu)
c.4957G>C (p.Val1653Leu)
c.4831G>C (p.Val1611Leu)
c.4951G>C (p.Val1651Leu)
c.4879G>C (p.Val1627Leu)
c.1645G>C (p.Val549Leu)
c.1507G>C (p.Val503Leu)
c.4069G>C (p.Val1357Leu)
c.4834G>C (p.Val1612Leu)
c.5023G>C (p.Val1675Leu)
c.4816G>C (p.Val1606Leu)
c.1519G>C (p.Val507Leu)
c.1564G>C (p.Val522Leu)
c.5020G>C (p.Val1674Leu)
c.1344G>C
c.1531G>C (p.Val511Leu)
c.*4740G>C (n.*4740G>C)
n.110G>C
c.1270G>C (p.Val424Leu)
c.5-7006G>C (n.5-7006G>C)
c.430G>C (p.Val144Leu)
c.-98-20767G>C (n.-98-20767G>C)
n.5093G>C
n.5134G>C
 ClinVar dbSNP
17g.43070957C>TCA003104BRCA1c.4954G>A (p.Val1652Met)
c.4957G>A (p.Val1653Met)
c.4831G>A (p.Val1611Met)
c.4951G>A (p.Val1651Met)
c.4879G>A (p.Val1627Met)
c.1645G>A (p.Val549Met)
c.1507G>A (p.Val503Met)
c.4069G>A (p.Val1357Met)
c.4834G>A (p.Val1612Met)
c.5023G>A (p.Val1675Met)
c.4816G>A (p.Val1606Met)
c.1519G>A (p.Val507Met)
c.1564G>A (p.Val522Met)
c.5020G>A (p.Val1674Met)
c.1344G>A
c.1531G>A (p.Val511Met)
c.*4740G>A (n.*4740G>A)
n.110G>A
c.1270G>A (p.Val424Met)
c.5-7006G>A (n.5-7006G>A)
c.430G>A (p.Val144Met)
c.-98-20767G>A (n.-98-20767G>A)
n.5093G>A
n.5134G>A
 ClinVar dbSNP
17g.43070958C>ACA10591611BRCA1c.4953G>T (p.Met1651Ile)
c.4956G>T (p.Met1652Ile)
c.4830G>T (p.Met1610Ile)
c.4950G>T (p.Met1650Ile)
c.4878G>T (p.Met1626Ile)
c.1644G>T (p.Met548Ile)
c.1506G>T (p.Met502Ile)
c.4068G>T (p.Met1356Ile)
c.4833G>T (p.Met1611Ile)
c.5022G>T (p.Met1674Ile)
c.4815G>T (p.Met1605Ile)
c.1518G>T (p.Met506Ile)
c.1563G>T (p.Met521Ile)
c.5019G>T (p.Met1673Ile)
c.1343G>T
c.1530G>T (p.Met510Ile)
c.*4739G>T (n.*4739G>T)
n.109G>T
c.1269G>T (p.Met423Ile)
c.5-7007G>T (n.5-7007G>T)
c.429G>T (p.Met143Ile)
c.-98-20768G>T (n.-98-20768G>T)
n.5092G>T
n.5133G>T
 ClinVar dbSNP
17g.43070958C=CA2260772767BRCA1c.4953G= (p.Met1651=)
c.4956G= (p.Met1652=)
c.4830G= (p.Met1610=)
c.4950G= (p.Met1650=)
c.4878G= (p.Met1626=)
c.1644G= (p.Met548=)
c.1506G= (p.Met502=)
c.4068G= (p.Met1356=)
c.4833G= (p.Met1611=)
c.5022G= (p.Met1674=)
c.4815G= (p.Met1605=)
c.1518G= (p.Met506=)
c.1563G= (p.Met521=)
c.5019G= (p.Met1673=)
c.1343G=
c.1530G= (p.Met510=)
c.*4739G= (n.*4739G=)
n.109G=
c.1269G= (p.Met423=)
c.5-7007G= (n.5-7007G=)
c.429G= (p.Met143=)
c.-98-20768G= (n.-98-20768G=)
n.5092G=
n.5133G=
17g.43070958C>GCA10591612BRCA1c.4953G>C (p.Met1651Ile)
c.4956G>C (p.Met1652Ile)
c.4830G>C (p.Met1610Ile)
c.4950G>C (p.Met1650Ile)
c.4878G>C (p.Met1626Ile)
c.1644G>C (p.Met548Ile)
c.1506G>C (p.Met502Ile)
c.4068G>C (p.Met1356Ile)
c.4833G>C (p.Met1611Ile)
c.5022G>C (p.Met1674Ile)
c.4815G>C (p.Met1605Ile)
c.1518G>C (p.Met506Ile)
c.1563G>C (p.Met521Ile)
c.5019G>C (p.Met1673Ile)
c.1343G>C
c.1530G>C (p.Met510Ile)
c.*4739G>C (n.*4739G>C)
n.109G>C
c.1269G>C (p.Met423Ile)
c.5-7007G>C (n.5-7007G>C)
c.429G>C (p.Met143Ile)
c.-98-20768G>C (n.-98-20768G>C)
n.5092G>C
n.5133G>C
 ClinVar dbSNP
17g.43070958C>TCA003103BRCA1c.4953G>A (p.Met1651Ile)
c.4956G>A (p.Met1652Ile)
c.4830G>A (p.Met1610Ile)
c.4950G>A (p.Met1650Ile)
c.4878G>A (p.Met1626Ile)
c.1644G>A (p.Met548Ile)
c.1506G>A (p.Met502Ile)
c.4068G>A (p.Met1356Ile)
c.4833G>A (p.Met1611Ile)
c.5022G>A (p.Met1674Ile)
c.4815G>A (p.Met1605Ile)
c.1518G>A (p.Met506Ile)
c.1563G>A (p.Met521Ile)
c.5019G>A (p.Met1673Ile)
c.1343G>A
c.1530G>A (p.Met510Ile)
c.*4739G>A (n.*4739G>A)
n.109G>A
c.1269G>A (p.Met423Ile)
c.5-7007G>A (n.5-7007G>A)
c.429G>A (p.Met143Ile)
c.-98-20768G>A (n.-98-20768G>A)
n.5092G>A
n.5133G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43070958_43070959delinsCACA2260772768BRCA1c.4952_4953delinsTG (p.Met1651=)
c.4955_4956delinsTG (p.Met1652=)
c.4829_4830delinsTG (p.Met1610=)
c.4949_4950delinsTG (p.Met1650=)
c.4877_4878delinsTG (p.Met1626=)
c.1643_1644delinsTG (p.Met548=)
c.1505_1506delinsTG (p.Met502=)
c.4067_4068delinsTG (p.Met1356=)
c.4832_4833delinsTG (p.Met1611=)
c.5021_5022delinsTG (p.Met1674=)
c.4814_4815delinsTG (p.Met1605=)
c.1517_1518delinsTG (p.Met506=)
c.1562_1563delinsTG (p.Met521=)
c.5018_5019delinsTG (p.Met1673=)
c.1342_1343delinsTG
c.1529_1530delinsTG (p.Met510=)
c.*4738_*4739delinsTG (n.*4738_*4739delinsTG)
n.108_109delinsTG
c.1268_1269delinsTG (p.Met423=)
c.5-7008_5-7007delinsTG (n.5-7008_5-7007delinsTG)
c.428_429delinsTG (p.Met143=)
c.-98-20769_-98-20768delinsTG (n.-98-20769_-98-20768delinsTG)
n.5091_5092delinsTG
n.5132_5133delinsTG
17g.43070958_43070959delinsTTCA915950102BRCA1c.4952_4953delinsAA (p.Met1651Lys)
c.4955_4956delinsAA (p.Met1652Lys)
c.4829_4830delinsAA (p.Met1610Lys)
c.4949_4950delinsAA (p.Met1650Lys)
c.4877_4878delinsAA (p.Met1626Lys)
c.1643_1644delinsAA (p.Met548Lys)
c.1505_1506delinsAA (p.Met502Lys)
c.4067_4068delinsAA (p.Met1356Lys)
c.4832_4833delinsAA (p.Met1611Lys)
c.5021_5022delinsAA (p.Met1674Lys)
c.4814_4815delinsAA (p.Met1605Lys)
c.1517_1518delinsAA (p.Met506Lys)
c.1562_1563delinsAA (p.Met521Lys)
c.5018_5019delinsAA (p.Met1673Lys)
c.1342_1343delinsAA
c.1529_1530delinsAA (p.Met510Lys)
c.*4738_*4739delinsAA (n.*4738_*4739delinsAA)
n.108_109delinsAA
c.1268_1269delinsAA (p.Met423Lys)
c.5-7008_5-7007delinsAA (n.5-7008_5-7007delinsAA)
c.428_429delinsAA (p.Met143Lys)
c.-98-20769_-98-20768delinsAA (n.-98-20769_-98-20768delinsAA)
n.5091_5092delinsAA
n.5132_5133delinsAA
 ClinVar dbSNP
17g.43070959delCA1139665577BRCA1c.4952del (p.Met1651ArgfsTer6)
c.4955del (p.Met1652ArgfsTer6)
c.4829del (p.Met1610ArgfsTer6)
c.4949del (p.Met1650ArgfsTer6)
c.4877del (p.Met1626ArgfsTer6)
c.1643del (p.Met548ArgfsTer6)
c.1505del (p.Met502ArgfsTer6)
c.4067del (p.Met1356ArgfsTer6)
c.4832del (p.Met1611ArgfsTer6)
c.5021del (p.Met1674ArgfsTer6)
c.4814del (p.Met1605ArgfsTer6)
c.1517del (p.Met506ArgfsTer6)
c.1562del (p.Met521ArgfsTer6)
c.5018del (p.Met1673ArgfsTer6)
c.1342del
c.1529del (p.Met510ArgfsTer6)
c.*4738del (n.*4738del)
n.108del
c.1268del (p.Met423ArgfsTer6)
c.5-7008del (n.5-7008del)
c.428del (p.Met143ArgfsTer6)
c.-98-20769del (n.-98-20769del)
n.5091del
n.5132del
 ClinVar dbSNP
17g.43070959A=CA2260772769BRCA1c.4952T= (p.Met1651=)
c.4955T= (p.Met1652=)
c.4829T= (p.Met1610=)
c.4949T= (p.Met1650=)
c.4877T= (p.Met1626=)
c.1643T= (p.Met548=)
c.1505T= (p.Met502=)
c.4067T= (p.Met1356=)
c.4832T= (p.Met1611=)
c.5021T= (p.Met1674=)
c.4814T= (p.Met1605=)
c.1517T= (p.Met506=)
c.1562T= (p.Met521=)
c.5018T= (p.Met1673=)
c.1342T=
c.1529T= (p.Met510=)
c.*4738T= (n.*4738T=)
n.108T=
c.1268T= (p.Met423=)
c.5-7008T= (n.5-7008T=)
c.428T= (p.Met143=)
c.-98-20769T= (n.-98-20769T=)
n.5091T=
n.5132T=
17g.43070959A>CCA10591613BRCA1c.4952T>G (p.Met1651Arg)
c.4955T>G (p.Met1652Arg)
c.4829T>G (p.Met1610Arg)
c.4949T>G (p.Met1650Arg)
c.4877T>G (p.Met1626Arg)
c.1643T>G (p.Met548Arg)
c.1505T>G (p.Met502Arg)
c.4067T>G (p.Met1356Arg)
c.4832T>G (p.Met1611Arg)
c.5021T>G (p.Met1674Arg)
c.4814T>G (p.Met1605Arg)
c.1517T>G (p.Met506Arg)
c.1562T>G (p.Met521Arg)
c.5018T>G (p.Met1673Arg)
c.1342T>G
c.1529T>G (p.Met510Arg)
c.*4738T>G (n.*4738T>G)
n.108T>G
c.1268T>G (p.Met423Arg)
c.5-7008T>G (n.5-7008T>G)
c.428T>G (p.Met143Arg)
c.-98-20769T>G (n.-98-20769T>G)
n.5091T>G
n.5132T>G
 ClinVar dbSNP
17g.43070959A>GCA003102BRCA1c.4952T>C (p.Met1651Thr)
c.4955T>C (p.Met1652Thr)
c.4829T>C (p.Met1610Thr)
c.4949T>C (p.Met1650Thr)
c.4877T>C (p.Met1626Thr)
c.1643T>C (p.Met548Thr)
c.1505T>C (p.Met502Thr)
c.4067T>C (p.Met1356Thr)
c.4832T>C (p.Met1611Thr)
c.5021T>C (p.Met1674Thr)
c.4814T>C (p.Met1605Thr)
c.1517T>C (p.Met506Thr)
c.1562T>C (p.Met521Thr)
c.5018T>C (p.Met1673Thr)
c.1342T>C
c.1529T>C (p.Met510Thr)
c.*4738T>C (n.*4738T>C)
n.108T>C
c.1268T>C (p.Met423Thr)
c.5-7008T>C (n.5-7008T>C)
c.428T>C (p.Met143Thr)
c.-98-20769T>C (n.-98-20769T>C)
n.5091T>C
n.5132T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43070959A>TCA003101BRCA1c.4952T>A (p.Met1651Lys)
c.4955T>A (p.Met1652Lys)
c.4829T>A (p.Met1610Lys)
c.4949T>A (p.Met1650Lys)
c.4877T>A (p.Met1626Lys)
c.1643T>A (p.Met548Lys)
c.1505T>A (p.Met502Lys)
c.4067T>A (p.Met1356Lys)
c.4832T>A (p.Met1611Lys)
c.5021T>A (p.Met1674Lys)
c.4814T>A (p.Met1605Lys)
c.1517T>A (p.Met506Lys)
c.1562T>A (p.Met521Lys)
c.5018T>A (p.Met1673Lys)
c.1342T>A
c.1529T>A (p.Met510Lys)
c.*4738T>A (n.*4738T>A)
n.108T>A
c.1268T>A (p.Met423Lys)
c.5-7008T>A (n.5-7008T>A)
c.428T>A (p.Met143Lys)
c.-98-20769T>A (n.-98-20769T>A)
n.5091T>A
n.5132T>A
 ClinVar dbSNP gnomAD v4
17g.43070960T>ACA10591614BRCA1c.4951A>T (p.Met1651Leu)
c.4954A>T (p.Met1652Leu)
c.4828A>T (p.Met1610Leu)
c.4948A>T (p.Met1650Leu)
c.4876A>T (p.Met1626Leu)
c.1642A>T (p.Met548Leu)
c.1504A>T (p.Met502Leu)
c.4066A>T (p.Met1356Leu)
c.4831A>T (p.Met1611Leu)
c.5020A>T (p.Met1674Leu)
c.4813A>T (p.Met1605Leu)
c.1516A>T (p.Met506Leu)
c.1561A>T (p.Met521Leu)
c.5017A>T (p.Met1673Leu)
c.1341A>T
c.1528A>T (p.Met510Leu)
c.*4737A>T (n.*4737A>T)
n.107A>T
c.1267A>T (p.Met423Leu)
c.5-7009A>T (n.5-7009A>T)
c.427A>T (p.Met143Leu)
c.-98-20770A>T (n.-98-20770A>T)
n.5090A>T
n.5131A>T
 ClinVar dbSNP
17g.43070960T>CCA10591615BRCA1c.4951A>G (p.Met1651Val)
c.4954A>G (p.Met1652Val)
c.4828A>G (p.Met1610Val)
c.4948A>G (p.Met1650Val)
c.4876A>G (p.Met1626Val)
c.1642A>G (p.Met548Val)
c.1504A>G (p.Met502Val)
c.4066A>G (p.Met1356Val)
c.4831A>G (p.Met1611Val)
c.5020A>G (p.Met1674Val)
c.4813A>G (p.Met1605Val)
c.1516A>G (p.Met506Val)
c.1561A>G (p.Met521Val)
c.5017A>G (p.Met1673Val)
c.1341A>G
c.1528A>G (p.Met510Val)
c.*4737A>G (n.*4737A>G)
n.107A>G
c.1267A>G (p.Met423Val)
c.5-7009A>G (n.5-7009A>G)
c.427A>G (p.Met143Val)
c.-98-20770A>G (n.-98-20770A>G)
n.5090A>G
n.5131A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43070960T>GCA10591616BRCA1c.4951A>C (p.Met1651Leu)
c.4954A>C (p.Met1652Leu)
c.4828A>C (p.Met1610Leu)
c.4948A>C (p.Met1650Leu)
c.4876A>C (p.Met1626Leu)
c.1642A>C (p.Met548Leu)
c.1504A>C (p.Met502Leu)
c.4066A>C (p.Met1356Leu)
c.4831A>C (p.Met1611Leu)
c.5020A>C (p.Met1674Leu)
c.4813A>C (p.Met1605Leu)
c.1516A>C (p.Met506Leu)
c.1561A>C (p.Met521Leu)
c.5017A>C (p.Met1673Leu)
c.1341A>C
c.1528A>C (p.Met510Leu)
c.*4737A>C (n.*4737A>C)
n.107A>C
c.1267A>C (p.Met423Leu)
c.5-7009A>C (n.5-7009A>C)
c.427A>C (p.Met143Leu)
c.-98-20770A>C (n.-98-20770A>C)
n.5090A>C
n.5131A>C
 ClinVar dbSNP
17g.43070960T=CA2260772770BRCA1c.4951A= (p.Met1651=)
c.4954A= (p.Met1652=)
c.4828A= (p.Met1610=)
c.4948A= (p.Met1650=)
c.4876A= (p.Met1626=)
c.1642A= (p.Met548=)
c.1504A= (p.Met502=)
c.4066A= (p.Met1356=)
c.4831A= (p.Met1611=)
c.5020A= (p.Met1674=)
c.4813A= (p.Met1605=)
c.1516A= (p.Met506=)
c.1561A= (p.Met521=)
c.5017A= (p.Met1673=)
c.1341A=
c.1528A= (p.Met510=)
c.*4737A= (n.*4737A=)
n.107A=
c.1267A= (p.Met423=)
c.5-7009A= (n.5-7009A=)
c.427A= (p.Met143=)
c.-98-20770A= (n.-98-20770A=)
n.5090A=
n.5131A=
17g.43070961G>ACA500231576BRCA1c.4950C>T (p.Ser1650=)
c.4953C>T (p.Ser1651=)
c.4827C>T (p.Ser1609=)
c.4947C>T (p.Ser1649=)
c.4875C>T (p.Ser1625=)
c.1641C>T (p.Ser547=)
c.1503C>T (p.Ser501=)
c.4065C>T (p.Ser1355=)
c.4830C>T (p.Ser1610=)
c.5019C>T (p.Ser1673=)
c.4812C>T (p.Ser1604=)
c.1515C>T (p.Ser505=)
c.1560C>T (p.Ser520=)
c.5016C>T (p.Ser1672=)
c.1340C>T
c.1527C>T (p.Ser509=)
c.*4736C>T (n.*4736C>T)
n.106C>T
c.1266C>T (p.Ser422=)
c.5-7010C>T (n.5-7010C>T)
c.426C>T (p.Ser142=)
c.-98-20771C>T (n.-98-20771C>T)
n.5089C>T
n.5130C>T
 ClinVar dbSNP
17g.43070961G>CCA500231577BRCA1c.4950C>G (p.Ser1650=)
c.4953C>G (p.Ser1651=)
c.4827C>G (p.Ser1609=)
c.4947C>G (p.Ser1649=)
c.4875C>G (p.Ser1625=)
c.1641C>G (p.Ser547=)
c.1503C>G (p.Ser501=)
c.4065C>G (p.Ser1355=)
c.4830C>G (p.Ser1610=)
c.5019C>G (p.Ser1673=)
c.4812C>G (p.Ser1604=)
c.1515C>G (p.Ser505=)
c.1560C>G (p.Ser520=)
c.5016C>G (p.Ser1672=)
c.1340C>G
c.1527C>G (p.Ser509=)
c.*4736C>G (n.*4736C>G)
n.106C>G
c.1266C>G (p.Ser422=)
c.5-7010C>G (n.5-7010C>G)
c.426C>G (p.Ser142=)
c.-98-20771C>G (n.-98-20771C>G)
n.5089C>G
n.5130C>G
 ClinVar dbSNP
17g.43070961G=CA2260772771BRCA1c.4950C= (p.Ser1650=)
c.4953C= (p.Ser1651=)
c.4827C= (p.Ser1609=)
c.4947C= (p.Ser1649=)
c.4875C= (p.Ser1625=)
c.1641C= (p.Ser547=)
c.1503C= (p.Ser501=)
c.4065C= (p.Ser1355=)
c.4830C= (p.Ser1610=)
c.5019C= (p.Ser1673=)
c.4812C= (p.Ser1604=)
c.1515C= (p.Ser505=)
c.1560C= (p.Ser520=)
c.5016C= (p.Ser1672=)
c.1340C=
c.1527C= (p.Ser509=)
c.*4736C= (n.*4736C=)
n.106C=
c.1266C= (p.Ser422=)
c.5-7010C= (n.5-7010C=)
c.426C= (p.Ser142=)
c.-98-20771C= (n.-98-20771C=)
n.5089C=
n.5130C=
17g.43070961G>TCA500231578BRCA1c.4950C>A (p.Ser1650=)
c.4953C>A (p.Ser1651=)
c.4827C>A (p.Ser1609=)
c.4947C>A (p.Ser1649=)
c.4875C>A (p.Ser1625=)
c.1641C>A (p.Ser547=)
c.1503C>A (p.Ser501=)
c.4065C>A (p.Ser1355=)
c.4830C>A (p.Ser1610=)
c.5019C>A (p.Ser1673=)
c.4812C>A (p.Ser1604=)
c.1515C>A (p.Ser505=)
c.1560C>A (p.Ser520=)
c.5016C>A (p.Ser1672=)
c.1340C>A
c.1527C>A (p.Ser509=)
c.*4736C>A (n.*4736C>A)
n.106C>A
c.1266C>A (p.Ser422=)
c.5-7010C>A (n.5-7010C>A)
c.426C>A (p.Ser142=)
c.-98-20771C>A (n.-98-20771C>A)
n.5089C>A
n.5130C>A
 ClinVar dbSNP
17g.43070962G>ACA003100BRCA1c.4949C>T (p.Ser1650Phe)
c.4952C>T (p.Ser1651Phe)
c.4826C>T (p.Ser1609Phe)
c.4946C>T (p.Ser1649Phe)
c.4874C>T (p.Ser1625Phe)
c.1640C>T (p.Ser547Phe)
c.1502C>T (p.Ser501Phe)
c.4064C>T (p.Ser1355Phe)
c.4829C>T (p.Ser1610Phe)
c.5018C>T (p.Ser1673Phe)
c.4811C>T (p.Ser1604Phe)
c.1514C>T (p.Ser505Phe)
c.1559C>T (p.Ser520Phe)
c.5015C>T (p.Ser1672Phe)
c.1339C>T
c.1526C>T (p.Ser509Phe)
c.*4735C>T (n.*4735C>T)
n.105C>T
c.1265C>T (p.Ser422Phe)
c.5-7011C>T (n.5-7011C>T)
c.425C>T (p.Ser142Phe)
c.-98-20772C>T (n.-98-20772C>T)
n.5088C>T
n.5129C>T
 ClinVar dbSNP gnomAD v4
17g.43070962G>CCA10591617BRCA1c.4949C>G (p.Ser1650Cys)
c.4952C>G (p.Ser1651Cys)
c.4826C>G (p.Ser1609Cys)
c.4946C>G (p.Ser1649Cys)
c.4874C>G (p.Ser1625Cys)
c.1640C>G (p.Ser547Cys)
c.1502C>G (p.Ser501Cys)
c.4064C>G (p.Ser1355Cys)
c.4829C>G (p.Ser1610Cys)
c.5018C>G (p.Ser1673Cys)
c.4811C>G (p.Ser1604Cys)
c.1514C>G (p.Ser505Cys)
c.1559C>G (p.Ser520Cys)
c.5015C>G (p.Ser1672Cys)
c.1339C>G
c.1526C>G (p.Ser509Cys)
c.*4735C>G (n.*4735C>G)
n.105C>G
c.1265C>G (p.Ser422Cys)
c.5-7011C>G (n.5-7011C>G)
c.425C>G (p.Ser142Cys)
c.-98-20772C>G (n.-98-20772C>G)
n.5088C>G
n.5129C>G
 ClinVar dbSNP
17g.43070962G=CA2260772772BRCA1c.4949C= (p.Ser1650=)
c.4952C= (p.Ser1651=)
c.4826C= (p.Ser1609=)
c.4946C= (p.Ser1649=)
c.4874C= (p.Ser1625=)
c.1640C= (p.Ser547=)
c.1502C= (p.Ser501=)
c.4064C= (p.Ser1355=)
c.4829C= (p.Ser1610=)
c.5018C= (p.Ser1673=)
c.4811C= (p.Ser1604=)
c.1514C= (p.Ser505=)
c.1559C= (p.Ser520=)
c.5015C= (p.Ser1672=)
c.1339C=
c.1526C= (p.Ser509=)
c.*4735C= (n.*4735C=)
n.105C=
c.1265C= (p.Ser422=)
c.5-7011C= (n.5-7011C=)
c.425C= (p.Ser142=)
c.-98-20772C= (n.-98-20772C=)
n.5088C=
n.5129C=
17g.43070962G>TCA10591618BRCA1c.4949C>A (p.Ser1650Tyr)
c.4952C>A (p.Ser1651Tyr)
c.4826C>A (p.Ser1609Tyr)
c.4946C>A (p.Ser1649Tyr)
c.4874C>A (p.Ser1625Tyr)
c.1640C>A (p.Ser547Tyr)
c.1502C>A (p.Ser501Tyr)
c.4064C>A (p.Ser1355Tyr)
c.4829C>A (p.Ser1610Tyr)
c.5018C>A (p.Ser1673Tyr)
c.4811C>A (p.Ser1604Tyr)
c.1514C>A (p.Ser505Tyr)
c.1559C>A (p.Ser520Tyr)
c.5015C>A (p.Ser1672Tyr)
c.1339C>A
c.1526C>A (p.Ser509Tyr)
c.*4735C>A (n.*4735C>A)
n.105C>A
c.1265C>A (p.Ser422Tyr)
c.5-7011C>A (n.5-7011C>A)
c.425C>A (p.Ser142Tyr)
c.-98-20772C>A (n.-98-20772C>A)
n.5088C>A
n.5129C>A
 ClinVar dbSNP
17g.43070963A=CA2260772773BRCA1c.4948T= (p.Ser1650=)
c.4951T= (p.Ser1651=)
c.4825T= (p.Ser1609=)
c.4945T= (p.Ser1649=)
c.4873T= (p.Ser1625=)
c.1639T= (p.Ser547=)
c.1501T= (p.Ser501=)
c.4063T= (p.Ser1355=)
c.4828T= (p.Ser1610=)
c.5017T= (p.Ser1673=)
c.4810T= (p.Ser1604=)
c.1513T= (p.Ser505=)
c.1558T= (p.Ser520=)
c.5014T= (p.Ser1672=)
c.1338T=
c.1525T= (p.Ser509=)
c.*4734T= (n.*4734T=)
n.104T=
c.1264T= (p.Ser422=)
c.5-7012T= (n.5-7012T=)
c.424T= (p.Ser142=)
c.-98-20773T= (n.-98-20773T=)
n.5087T=
n.5128T=
17g.43070963A>CCA10591619BRCA1c.4948T>G (p.Ser1650Ala)
c.4951T>G (p.Ser1651Ala)
c.4825T>G (p.Ser1609Ala)
c.4945T>G (p.Ser1649Ala)
c.4873T>G (p.Ser1625Ala)
c.1639T>G (p.Ser547Ala)
c.1501T>G (p.Ser501Ala)
c.4063T>G (p.Ser1355Ala)
c.4828T>G (p.Ser1610Ala)
c.5017T>G (p.Ser1673Ala)
c.4810T>G (p.Ser1604Ala)
c.1513T>G (p.Ser505Ala)
c.1558T>G (p.Ser520Ala)
c.5014T>G (p.Ser1672Ala)
c.1338T>G
c.1525T>G (p.Ser509Ala)
c.*4734T>G (n.*4734T>G)
n.104T>G
c.1264T>G (p.Ser422Ala)
c.5-7012T>G (n.5-7012T>G)
c.424T>G (p.Ser142Ala)
c.-98-20773T>G (n.-98-20773T>G)
n.5087T>G
n.5128T>G
 ClinVar dbSNP
17g.43070963A>GCA10584551BRCA1c.4948T>C (p.Ser1650Pro)
c.4951T>C (p.Ser1651Pro)
c.4825T>C (p.Ser1609Pro)
c.4945T>C (p.Ser1649Pro)
c.4873T>C (p.Ser1625Pro)
c.1639T>C (p.Ser547Pro)
c.1501T>C (p.Ser501Pro)
c.4063T>C (p.Ser1355Pro)
c.4828T>C (p.Ser1610Pro)
c.5017T>C (p.Ser1673Pro)
c.4810T>C (p.Ser1604Pro)
c.1513T>C (p.Ser505Pro)
c.1558T>C (p.Ser520Pro)
c.5014T>C (p.Ser1672Pro)
c.1338T>C
c.1525T>C (p.Ser509Pro)
c.*4734T>C (n.*4734T>C)
n.104T>C
c.1264T>C (p.Ser422Pro)
c.5-7012T>C (n.5-7012T>C)
c.424T>C (p.Ser142Pro)
c.-98-20773T>C (n.-98-20773T>C)
n.5087T>C
n.5128T>C
 ClinVar dbSNP
17g.43070963A>TCA10591620BRCA1c.4948T>A (p.Ser1650Thr)
c.4951T>A (p.Ser1651Thr)
c.4825T>A (p.Ser1609Thr)
c.4945T>A (p.Ser1649Thr)
c.4873T>A (p.Ser1625Thr)
c.1639T>A (p.Ser547Thr)
c.1501T>A (p.Ser501Thr)
c.4063T>A (p.Ser1355Thr)
c.4828T>A (p.Ser1610Thr)
c.5017T>A (p.Ser1673Thr)
c.4810T>A (p.Ser1604Thr)
c.1513T>A (p.Ser505Thr)
c.1558T>A (p.Ser520Thr)
c.5014T>A (p.Ser1672Thr)
c.1338T>A
c.1525T>A (p.Ser509Thr)
c.*4734T>A (n.*4734T>A)
n.104T>A
c.1264T>A (p.Ser422Thr)
c.5-7012T>A (n.5-7012T>A)
c.424T>A (p.Ser142Thr)
c.-98-20773T>A (n.-98-20773T>A)
n.5087T>A
n.5128T>A
 ClinVar dbSNP
17g.43070963_43070966delCA2739265580BRCA1c.4945_4948del (p.Met1649ProfsTer7)
c.4948_4951del (p.Met1650ProfsTer7)
c.4822_4825del (p.Met1608ProfsTer7)
c.4942_4945del (p.Met1648ProfsTer7)
c.4870_4873del (p.Met1624ProfsTer7)
c.1636_1639del (p.Met546ProfsTer7)
c.1498_1501del (p.Met500ProfsTer7)
c.4060_4063del (p.Met1354ProfsTer7)
c.4825_4828del (p.Met1609ProfsTer7)
c.5014_5017del (p.Met1672ProfsTer7)
c.4807_4810del (p.Met1603ProfsTer7)
c.1510_1513del (p.Met504ProfsTer7)
c.1555_1558del (p.Met519ProfsTer7)
c.5011_5014del (p.Met1671ProfsTer7)
c.1335_1338del
c.1522_1525del (p.Met508ProfsTer7)
c.*4731_*4734del (n.*4731_*4734del)
n.101_104del
c.1261_1264del (p.Met421ProfsTer7)
c.5-7015_5-7012del (n.5-7015_5-7012del)
c.421_424del (p.Met141ProfsTer7)
c.-98-20776_-98-20773del (n.-98-20776_-98-20773del)
n.5084_5087del
n.5125_5128del
 ClinVar
17g.43070964C>ACA10591621BRCA1c.4947G>T (p.Met1649Ile)
c.4950G>T (p.Met1650Ile)
c.4824G>T (p.Met1608Ile)
c.4944G>T (p.Met1648Ile)
c.4872G>T (p.Met1624Ile)
c.1638G>T (p.Met546Ile)
c.1500G>T (p.Met500Ile)
c.4062G>T (p.Met1354Ile)
c.4827G>T (p.Met1609Ile)
c.5016G>T (p.Met1672Ile)
c.4809G>T (p.Met1603Ile)
c.1512G>T (p.Met504Ile)
c.1557G>T (p.Met519Ile)
c.5013G>T (p.Met1671Ile)
c.1337G>T
c.1524G>T (p.Met508Ile)
c.*4733G>T (n.*4733G>T)
n.103G>T
c.1263G>T (p.Met421Ile)
c.5-7013G>T (n.5-7013G>T)
c.423G>T (p.Met141Ile)
c.-98-20774G>T (n.-98-20774G>T)
n.5086G>T
n.5127G>T
 ClinVar dbSNP
17g.43070964C=CA2260772774BRCA1c.4947G= (p.Met1649=)
c.4950G= (p.Met1650=)
c.4824G= (p.Met1608=)
c.4944G= (p.Met1648=)
c.4872G= (p.Met1624=)
c.1638G= (p.Met546=)
c.1500G= (p.Met500=)
c.4062G= (p.Met1354=)
c.4827G= (p.Met1609=)
c.5016G= (p.Met1672=)
c.4809G= (p.Met1603=)
c.1512G= (p.Met504=)
c.1557G= (p.Met519=)
c.5013G= (p.Met1671=)
c.1337G=
c.1524G= (p.Met508=)
c.*4733G= (n.*4733G=)
n.103G=
c.1263G= (p.Met421=)
c.5-7013G= (n.5-7013G=)
c.423G= (p.Met141=)
c.-98-20774G= (n.-98-20774G=)
n.5086G=
n.5127G=
17g.43070964C>GCA10591622BRCA1c.4947G>C (p.Met1649Ile)
c.4950G>C (p.Met1650Ile)
c.4824G>C (p.Met1608Ile)
c.4944G>C (p.Met1648Ile)
c.4872G>C (p.Met1624Ile)
c.1638G>C (p.Met546Ile)
c.1500G>C (p.Met500Ile)
c.4062G>C (p.Met1354Ile)
c.4827G>C (p.Met1609Ile)
c.5016G>C (p.Met1672Ile)
c.4809G>C (p.Met1603Ile)
c.1512G>C (p.Met504Ile)
c.1557G>C (p.Met519Ile)
c.5013G>C (p.Met1671Ile)
c.1337G>C
c.1524G>C (p.Met508Ile)
c.*4733G>C (n.*4733G>C)
n.103G>C
c.1263G>C (p.Met421Ile)
c.5-7013G>C (n.5-7013G>C)
c.423G>C (p.Met141Ile)
c.-98-20774G>C (n.-98-20774G>C)
n.5086G>C
n.5127G>C
 ClinVar dbSNP
17g.43070964C>TCA10591623BRCA1c.4947G>A (p.Met1649Ile)
c.4950G>A (p.Met1650Ile)
c.4824G>A (p.Met1608Ile)
c.4944G>A (p.Met1648Ile)
c.4872G>A (p.Met1624Ile)
c.1638G>A (p.Met546Ile)
c.1500G>A (p.Met500Ile)
c.4062G>A (p.Met1354Ile)
c.4827G>A (p.Met1609Ile)
c.5016G>A (p.Met1672Ile)
c.4809G>A (p.Met1603Ile)
c.1512G>A (p.Met504Ile)
c.1557G>A (p.Met519Ile)
c.5013G>A (p.Met1671Ile)
c.1337G>A
c.1524G>A (p.Met508Ile)
c.*4733G>A (n.*4733G>A)
n.103G>A
c.1263G>A (p.Met421Ile)
c.5-7013G>A (n.5-7013G>A)
c.423G>A (p.Met141Ile)
c.-98-20774G>A (n.-98-20774G>A)
n.5086G>A
n.5127G>A
 ClinVar dbSNP
17g.43070965A=CA2260772775BRCA1c.4946T= (p.Met1649=)
c.4949T= (p.Met1650=)
c.4823T= (p.Met1608=)
c.4943T= (p.Met1648=)
c.4871T= (p.Met1624=)
c.1637T= (p.Met546=)
c.1499T= (p.Met500=)
c.4061T= (p.Met1354=)
c.4826T= (p.Met1609=)
c.5015T= (p.Met1672=)
c.4808T= (p.Met1603=)
c.1511T= (p.Met504=)
c.1556T= (p.Met519=)
c.5012T= (p.Met1671=)
c.1336T=
c.1523T= (p.Met508=)
c.*4732T= (n.*4732T=)
n.102T=
c.1262T= (p.Met421=)
c.5-7014T= (n.5-7014T=)
c.422T= (p.Met141=)
c.-98-20775T= (n.-98-20775T=)
n.5085T=
n.5126T=
17g.43070965A>CCA10591624BRCA1c.4946T>G (p.Met1649Arg)
c.4949T>G (p.Met1650Arg)
c.4823T>G (p.Met1608Arg)
c.4943T>G (p.Met1648Arg)
c.4871T>G (p.Met1624Arg)
c.1637T>G (p.Met546Arg)
c.1499T>G (p.Met500Arg)
c.4061T>G (p.Met1354Arg)
c.4826T>G (p.Met1609Arg)
c.5015T>G (p.Met1672Arg)
c.4808T>G (p.Met1603Arg)
c.1511T>G (p.Met504Arg)
c.1556T>G (p.Met519Arg)
c.5012T>G (p.Met1671Arg)
c.1336T>G
c.1523T>G (p.Met508Arg)
c.*4732T>G (n.*4732T>G)
n.102T>G
c.1262T>G (p.Met421Arg)
c.5-7014T>G (n.5-7014T>G)
c.422T>G (p.Met141Arg)
c.-98-20775T>G (n.-98-20775T>G)
n.5085T>G
n.5126T>G
 ClinVar dbSNP
17g.43070965A>GCA053470BRCA1c.4946T>C (p.Met1649Thr)
c.4949T>C (p.Met1650Thr)
c.4823T>C (p.Met1608Thr)
c.4943T>C (p.Met1648Thr)
c.4871T>C (p.Met1624Thr)
c.1637T>C (p.Met546Thr)
c.1499T>C (p.Met500Thr)
c.4061T>C (p.Met1354Thr)
c.4826T>C (p.Met1609Thr)
c.5015T>C (p.Met1672Thr)
c.4808T>C (p.Met1603Thr)
c.1511T>C (p.Met504Thr)
c.1556T>C (p.Met519Thr)
c.5012T>C (p.Met1671Thr)
c.1336T>C
c.1523T>C (p.Met508Thr)
c.*4732T>C (n.*4732T>C)
n.102T>C
c.1262T>C (p.Met421Thr)
c.5-7014T>C (n.5-7014T>C)
c.422T>C (p.Met141Thr)
c.-98-20775T>C (n.-98-20775T>C)
n.5085T>C
n.5126T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43070965A>TCA10591625BRCA1c.4946T>A (p.Met1649Lys)
c.4949T>A (p.Met1650Lys)
c.4823T>A (p.Met1608Lys)
c.4943T>A (p.Met1648Lys)
c.4871T>A (p.Met1624Lys)
c.1637T>A (p.Met546Lys)
c.1499T>A (p.Met500Lys)
c.4061T>A (p.Met1354Lys)
c.4826T>A (p.Met1609Lys)
c.5015T>A (p.Met1672Lys)
c.4808T>A (p.Met1603Lys)
c.1511T>A (p.Met504Lys)
c.1556T>A (p.Met519Lys)
c.5012T>A (p.Met1671Lys)
c.1336T>A
c.1523T>A (p.Met508Lys)
c.*4732T>A (n.*4732T>A)
n.102T>A
c.1262T>A (p.Met421Lys)
c.5-7014T>A (n.5-7014T>A)
c.422T>A (p.Met141Lys)
c.-98-20775T>A (n.-98-20775T>A)
n.5085T>A
n.5126T>A
 ClinVar dbSNP
17g.43070965_43070968delinsATTCCA2260772776BRCA1c.4943_4946delinsGAAT (p.Arg1648=)
c.4946_4949delinsGAAT (p.Arg1649=)
c.4820_4823delinsGAAT (p.Arg1607=)
c.4940_4943delinsGAAT (p.Arg1647=)
c.4868_4871delinsGAAT (p.Arg1623=)
c.1634_1637delinsGAAT (p.Arg545=)
c.1496_1499delinsGAAT (p.Arg499=)
c.4058_4061delinsGAAT (p.Arg1353=)
c.4823_4826delinsGAAT (p.Arg1608=)
c.5012_5015delinsGAAT (p.Arg1671=)
c.4805_4808delinsGAAT (p.Arg1602=)
c.1508_1511delinsGAAT (p.Arg503=)
c.1553_1556delinsGAAT (p.Arg518=)
c.5009_5012delinsGAAT (p.Arg1670=)
c.1333_1336delinsGAAT
c.1520_1523delinsGAAT (p.Arg507=)
c.*4729_*4732delinsGAAT (n.*4729_*4732delinsGAAT)
n.99_102delinsGAAT
c.1259_1262delinsGAAT (p.Arg420=)
c.5-7017_5-7014delinsGAAT (n.5-7017_5-7014delinsGAAT)
c.419_422delinsGAAT (p.Arg140=)
c.-98-20778_-98-20775delinsGAAT (n.-98-20778_-98-20775delinsGAAT)
n.5082_5085delinsGAAT
n.5123_5126delinsGAAT
17g.43070966T>ACA10591626BRCA1c.4945A>T (p.Met1649Leu)
c.4948A>T (p.Met1650Leu)
c.4822A>T (p.Met1608Leu)
c.4942A>T (p.Met1648Leu)
c.4870A>T (p.Met1624Leu)
c.1636A>T (p.Met546Leu)
c.1498A>T (p.Met500Leu)
c.4060A>T (p.Met1354Leu)
c.4825A>T (p.Met1609Leu)
c.5014A>T (p.Met1672Leu)
c.4807A>T (p.Met1603Leu)
c.1510A>T (p.Met504Leu)
c.1555A>T (p.Met519Leu)
c.5011A>T (p.Met1671Leu)
c.1335A>T
c.1522A>T (p.Met508Leu)
c.*4731A>T (n.*4731A>T)
n.101A>T
c.1261A>T (p.Met421Leu)
c.5-7015A>T (n.5-7015A>T)
c.421A>T (p.Met141Leu)
c.-98-20776A>T (n.-98-20776A>T)
n.5084A>T
n.5125A>T
 ClinVar dbSNP
17g.43070966T>CCA10591627BRCA1c.4945A>G (p.Met1649Val)
c.4948A>G (p.Met1650Val)
c.4822A>G (p.Met1608Val)
c.4942A>G (p.Met1648Val)
c.4870A>G (p.Met1624Val)
c.1636A>G (p.Met546Val)
c.1498A>G (p.Met500Val)
c.4060A>G (p.Met1354Val)
c.4825A>G (p.Met1609Val)
c.5014A>G (p.Met1672Val)
c.4807A>G (p.Met1603Val)
c.1510A>G (p.Met504Val)
c.1555A>G (p.Met519Val)
c.5011A>G (p.Met1671Val)
c.1335A>G
c.1522A>G (p.Met508Val)
c.*4731A>G (n.*4731A>G)
n.101A>G
c.1261A>G (p.Met421Val)
c.5-7015A>G (n.5-7015A>G)
c.421A>G (p.Met141Val)
c.-98-20776A>G (n.-98-20776A>G)
n.5084A>G
n.5125A>G
 ClinVar dbSNP
17g.43070966T>GCA10591628BRCA1c.4945A>C (p.Met1649Leu)
c.4948A>C (p.Met1650Leu)
c.4822A>C (p.Met1608Leu)
c.4942A>C (p.Met1648Leu)
c.4870A>C (p.Met1624Leu)
c.1636A>C (p.Met546Leu)
c.1498A>C (p.Met500Leu)
c.4060A>C (p.Met1354Leu)
c.4825A>C (p.Met1609Leu)
c.5014A>C (p.Met1672Leu)
c.4807A>C (p.Met1603Leu)
c.1510A>C (p.Met504Leu)
c.1555A>C (p.Met519Leu)
c.5011A>C (p.Met1671Leu)
c.1335A>C
c.1522A>C (p.Met508Leu)
c.*4731A>C (n.*4731A>C)
n.101A>C
c.1261A>C (p.Met421Leu)
c.5-7015A>C (n.5-7015A>C)
c.421A>C (p.Met141Leu)
c.-98-20776A>C (n.-98-20776A>C)
n.5084A>C
n.5125A>C
 ClinVar dbSNP
17g.43070966T=CA2260772777BRCA1c.4945A= (p.Met1649=)
c.4948A= (p.Met1650=)
c.4822A= (p.Met1608=)
c.4942A= (p.Met1648=)
c.4870A= (p.Met1624=)
c.1636A= (p.Met546=)
c.1498A= (p.Met500=)
c.4060A= (p.Met1354=)
c.4825A= (p.Met1609=)
c.5014A= (p.Met1672=)
c.4807A= (p.Met1603=)
c.1510A= (p.Met504=)
c.1555A= (p.Met519=)
c.5011A= (p.Met1671=)
c.1335A=
c.1522A= (p.Met508=)
c.*4731A= (n.*4731A=)
n.101A=
c.1261A= (p.Met421=)
c.5-7015A= (n.5-7015A=)
c.421A= (p.Met141=)
c.-98-20776A= (n.-98-20776A=)
n.5084A=
n.5125A=
17g.43070966_43070969delinsTTCTCA2260772778BRCA1c.4942_4945delinsAGAA (p.Arg1648=)
c.4945_4948delinsAGAA (p.Arg1649=)
c.4819_4822delinsAGAA (p.Arg1607=)
c.4939_4942delinsAGAA (p.Arg1647=)
c.4867_4870delinsAGAA (p.Arg1623=)
c.1633_1636delinsAGAA (p.Arg545=)
c.1495_1498delinsAGAA (p.Arg499=)
c.4057_4060delinsAGAA (p.Arg1353=)
c.4822_4825delinsAGAA (p.Arg1608=)
c.5011_5014delinsAGAA (p.Arg1671=)
c.4804_4807delinsAGAA (p.Arg1602=)
c.1507_1510delinsAGAA (p.Arg503=)
c.1552_1555delinsAGAA (p.Arg518=)
c.5008_5011delinsAGAA (p.Arg1670=)
c.1332_1335delinsAGAA
c.1519_1522delinsAGAA (p.Arg507=)
c.*4728_*4731delinsAGAA (n.*4728_*4731delinsAGAA)
n.98_101delinsAGAA
c.1258_1261delinsAGAA (p.Arg420=)
c.5-7018_5-7015delinsAGAA (n.5-7018_5-7015delinsAGAA)
c.418_421delinsAGAA (p.Arg140=)
c.-98-20779_-98-20776delinsAGAA (n.-98-20779_-98-20776delinsAGAA)
n.5081_5084delinsAGAA
n.5122_5125delinsAGAA
17g.43070968_43070970delCA915950103BRCA1c.4943_4945del (p.Arg1648del)
c.4946_4948del (p.Arg1649del)
c.4820_4822del (p.Arg1607del)
c.4940_4942del (p.Arg1647del)
c.4868_4870del (p.Arg1623del)
c.1634_1636del (p.Arg545del)
c.1496_1498del (p.Arg499del)
c.4058_4060del (p.Arg1353del)
c.4823_4825del (p.Arg1608del)
c.5012_5014del (p.Arg1671del)
c.4805_4807del (p.Arg1602del)
c.1508_1510del (p.Arg503del)
c.1553_1555del (p.Arg518del)
c.5009_5011del (p.Arg1670del)
c.1333_1335del
c.1520_1522del (p.Arg507del)
c.*4729_*4731del (n.*4729_*4731del)
n.99_101del
c.1259_1261del (p.Arg420del)
c.5-7017_5-7015del (n.5-7017_5-7015del)
c.419_421del (p.Arg140del)
c.-98-20778_-98-20776del (n.-98-20778_-98-20776del)
n.5082_5084del
n.5123_5125del
 ClinVar dbSNP gnomAD v4
17g.43070966_43070967insACA2499224389BRCA1c.4944_4945insT (p.Met1649TyrfsTer29)
c.4947_4948insT (p.Met1650TyrfsTer29)
c.4821_4822insT (p.Met1608TyrfsTer29)
c.4941_4942insT (p.Met1648TyrfsTer29)
c.4869_4870insT (p.Met1624TyrfsTer29)
c.1635_1636insT (p.Met546TyrfsTer29)
c.1497_1498insT (p.Met500TyrfsTer29)
c.4059_4060insT (p.Met1354TyrfsTer29)
c.4824_4825insT (p.Met1609TyrfsTer29)
c.5013_5014insT (p.Met1672TyrfsTer29)
c.4806_4807insT (p.Met1603TyrfsTer29)
c.1509_1510insT (p.Met504TyrfsTer29)
c.1554_1555insT (p.Met519TyrfsTer25)
c.5010_5011insT (p.Met1671TyrfsTer29)
c.1334_1335insT
c.1521_1522insT (p.Met508TyrfsTer29)
c.*4730_*4731insT (n.*4730_*4731insT)
n.100_101insT
c.1260_1261insT (p.Met421TyrfsTer29)
c.5-7016_5-7015insT (n.5-7016_5-7015insT)
c.420_421insT (p.Met141TyrfsTer29)
c.-98-20777_-98-20776insT (n.-98-20777_-98-20776insT)
n.5083_5084insT
n.5124_5125insT
 ClinVar dbSNP
17g.43070967T>ACA10591629BRCA1c.4944A>T (p.Arg1648Ser)
c.4947A>T (p.Arg1649Ser)
c.4821A>T (p.Arg1607Ser)
c.4941A>T (p.Arg1647Ser)
c.4869A>T (p.Arg1623Ser)
c.1635A>T (p.Arg545Ser)
c.1497A>T (p.Arg499Ser)
c.4059A>T (p.Arg1353Ser)
c.4824A>T (p.Arg1608Ser)
c.5013A>T (p.Arg1671Ser)
c.4806A>T (p.Arg1602Ser)
c.1509A>T (p.Arg503Ser)
c.1554A>T (p.Arg518Ser)
c.5010A>T (p.Arg1670Ser)
c.1334A>T
c.1521A>T (p.Arg507Ser)
c.*4730A>T (n.*4730A>T)
n.100A>T
c.1260A>T (p.Arg420Ser)
c.5-7016A>T (n.5-7016A>T)
c.420A>T (p.Arg140Ser)
c.-98-20777A>T (n.-98-20777A>T)
n.5083A>T
n.5124A>T
 ClinVar dbSNP
17g.43070967T>CCA500231591BRCA1c.4944A>G (p.Arg1648=)
c.4947A>G (p.Arg1649=)
c.4821A>G (p.Arg1607=)
c.4941A>G (p.Arg1647=)
c.4869A>G (p.Arg1623=)
c.1635A>G (p.Arg545=)
c.1497A>G (p.Arg499=)
c.4059A>G (p.Arg1353=)
c.4824A>G (p.Arg1608=)
c.5013A>G (p.Arg1671=)
c.4806A>G (p.Arg1602=)
c.1509A>G (p.Arg503=)
c.1554A>G (p.Arg518=)
c.5010A>G (p.Arg1670=)
c.1334A>G
c.1521A>G (p.Arg507=)
c.*4730A>G (n.*4730A>G)
n.100A>G
c.1260A>G (p.Arg420=)
c.5-7016A>G (n.5-7016A>G)
c.420A>G (p.Arg140=)
c.-98-20777A>G (n.-98-20777A>G)
n.5083A>G
n.5124A>G
 ClinVar dbSNP
17g.43070967T>GCA10591630BRCA1c.4944A>C (p.Arg1648Ser)
c.4947A>C (p.Arg1649Ser)
c.4821A>C (p.Arg1607Ser)
c.4941A>C (p.Arg1647Ser)
c.4869A>C (p.Arg1623Ser)
c.1635A>C (p.Arg545Ser)
c.1497A>C (p.Arg499Ser)
c.4059A>C (p.Arg1353Ser)
c.4824A>C (p.Arg1608Ser)
c.5013A>C (p.Arg1671Ser)
c.4806A>C (p.Arg1602Ser)
c.1509A>C (p.Arg503Ser)
c.1554A>C (p.Arg518Ser)
c.5010A>C (p.Arg1670Ser)
c.1334A>C
c.1521A>C (p.Arg507Ser)
c.*4730A>C (n.*4730A>C)
n.100A>C
c.1260A>C (p.Arg420Ser)
c.5-7016A>C (n.5-7016A>C)
c.420A>C (p.Arg140Ser)
c.-98-20777A>C (n.-98-20777A>C)
n.5083A>C
n.5124A>C
 ClinVar dbSNP
17g.43070967T=CA2260772779BRCA1c.4944A= (p.Arg1648=)
c.4947A= (p.Arg1649=)
c.4821A= (p.Arg1607=)
c.4941A= (p.Arg1647=)
c.4869A= (p.Arg1623=)
c.1635A= (p.Arg545=)
c.1497A= (p.Arg499=)
c.4059A= (p.Arg1353=)
c.4824A= (p.Arg1608=)
c.5013A= (p.Arg1671=)
c.4806A= (p.Arg1602=)
c.1509A= (p.Arg503=)
c.1554A= (p.Arg518=)
c.5010A= (p.Arg1670=)
c.1334A=
c.1521A= (p.Arg507=)
c.*4730A= (n.*4730A=)
n.100A=
c.1260A= (p.Arg420=)
c.5-7016A= (n.5-7016A=)
c.420A= (p.Arg140=)
c.-98-20777A= (n.-98-20777A=)
n.5083A=
n.5124A=
17g.43070967_43070969delinsAAAACA003097BRCA1c.4942_4944delinsTTTT (p.Arg1648PhefsTer30)
c.4945_4947delinsTTTT (p.Arg1649PhefsTer30)
c.4819_4821delinsTTTT (p.Arg1607PhefsTer30)
c.4939_4941delinsTTTT (p.Arg1647PhefsTer30)
c.4867_4869delinsTTTT (p.Arg1623PhefsTer30)
c.1633_1635delinsTTTT (p.Arg545PhefsTer30)
c.1495_1497delinsTTTT (p.Arg499PhefsTer30)
c.4057_4059delinsTTTT (p.Arg1353PhefsTer30)
c.4822_4824delinsTTTT (p.Arg1608PhefsTer30)
c.5011_5013delinsTTTT (p.Arg1671PhefsTer30)
c.4804_4806delinsTTTT (p.Arg1602PhefsTer30)
c.1507_1509delinsTTTT (p.Arg503PhefsTer30)
c.1552_1554delinsTTTT (p.Arg518PhefsTer26)
c.5008_5010delinsTTTT (p.Arg1670PhefsTer30)
c.1332_1334delinsTTTT
c.1519_1521delinsTTTT (p.Arg507PhefsTer30)
c.*4728_*4730delinsTTTT (n.*4728_*4730delinsTTTT)
n.98_100delinsTTTT
c.1258_1260delinsTTTT (p.Arg420PhefsTer30)
c.5-7018_5-7016delinsTTTT (n.5-7018_5-7016delinsTTTT)
c.418_420delinsTTTT (p.Arg140PhefsTer30)
c.-98-20779_-98-20777delinsTTTT (n.-98-20779_-98-20777delinsTTTT)
n.5081_5083delinsTTTT
n.5122_5124delinsTTTT
 ClinVar dbSNP
17g.43070968C>ACA10591631BRCA1c.4943G>T (p.Arg1648Ile)
c.4946G>T (p.Arg1649Ile)
c.4820G>T (p.Arg1607Ile)
c.4940G>T (p.Arg1647Ile)
c.4868G>T (p.Arg1623Ile)
c.1634G>T (p.Arg545Ile)
c.1496G>T (p.Arg499Ile)
c.4058G>T (p.Arg1353Ile)
c.4823G>T (p.Arg1608Ile)
c.5012G>T (p.Arg1671Ile)
c.4805G>T (p.Arg1602Ile)
c.1508G>T (p.Arg503Ile)
c.1553G>T (p.Arg518Ile)
c.5009G>T (p.Arg1670Ile)
c.1333G>T
c.1520G>T (p.Arg507Ile)
c.*4729G>T (n.*4729G>T)
n.99G>T
c.1259G>T (p.Arg420Ile)
c.5-7017G>T (n.5-7017G>T)
c.419G>T (p.Arg140Ile)
c.-98-20778G>T (n.-98-20778G>T)
n.5082G>T
n.5123G>T
 ClinVar dbSNP gnomAD v4 COSMIC
17g.43070968C=CA2260772781BRCA1c.4943G= (p.Arg1648=)
c.4946G= (p.Arg1649=)
c.4820G= (p.Arg1607=)
c.4940G= (p.Arg1647=)
c.4868G= (p.Arg1623=)
c.1634G= (p.Arg545=)
c.1496G= (p.Arg499=)
c.4058G= (p.Arg1353=)
c.4823G= (p.Arg1608=)
c.5012G= (p.Arg1671=)
c.4805G= (p.Arg1602=)
c.1508G= (p.Arg503=)
c.1553G= (p.Arg518=)
c.5009G= (p.Arg1670=)
c.1333G=
c.1520G= (p.Arg507=)
c.*4729G= (n.*4729G=)
n.99G=
c.1259G= (p.Arg420=)
c.5-7017G= (n.5-7017G=)
c.419G= (p.Arg140=)
c.-98-20778G= (n.-98-20778G=)
n.5082G=
n.5123G=
17g.43070968C>GCA10580504BRCA1c.4943G>C (p.Arg1648Thr)
c.4946G>C (p.Arg1649Thr)
c.4820G>C (p.Arg1607Thr)
c.4940G>C (p.Arg1647Thr)
c.4868G>C (p.Arg1623Thr)
c.1634G>C (p.Arg545Thr)
c.1496G>C (p.Arg499Thr)
c.4058G>C (p.Arg1353Thr)
c.4823G>C (p.Arg1608Thr)
c.5012G>C (p.Arg1671Thr)
c.4805G>C (p.Arg1602Thr)
c.1508G>C (p.Arg503Thr)
c.1553G>C (p.Arg518Thr)
c.5009G>C (p.Arg1670Thr)
c.1333G>C
c.1520G>C (p.Arg507Thr)
c.*4729G>C (n.*4729G>C)
n.99G>C
c.1259G>C (p.Arg420Thr)
c.5-7017G>C (n.5-7017G>C)
c.419G>C (p.Arg140Thr)
c.-98-20778G>C (n.-98-20778G>C)
n.5082G>C
n.5123G>C
 ClinVar dbSNP
17g.43070968C>TCA10591632BRCA1c.4943G>A (p.Arg1648Lys)
c.4946G>A (p.Arg1649Lys)
c.4820G>A (p.Arg1607Lys)
c.4940G>A (p.Arg1647Lys)
c.4868G>A (p.Arg1623Lys)
c.1634G>A (p.Arg545Lys)
c.1496G>A (p.Arg499Lys)
c.4058G>A (p.Arg1353Lys)
c.4823G>A (p.Arg1608Lys)
c.5012G>A (p.Arg1671Lys)
c.4805G>A (p.Arg1602Lys)
c.1508G>A (p.Arg503Lys)
c.1553G>A (p.Arg518Lys)
c.5009G>A (p.Arg1670Lys)
c.1333G>A
c.1520G>A (p.Arg507Lys)
c.*4729G>A (n.*4729G>A)
n.99G>A
c.1259G>A (p.Arg420Lys)
c.5-7017G>A (n.5-7017G>A)
c.419G>A (p.Arg140Lys)
c.-98-20778G>A (n.-98-20778G>A)
n.5082G>A
n.5123G>A
 ClinVar dbSNP gnomAD v4 COSMIC
17g.43070968_43070970delinsCTTCA2260772780BRCA1c.4941_4943delinsAAG (p.Lys1647=)
c.4944_4946delinsAAG (p.Lys1648=)
c.4818_4820delinsAAG (p.Lys1606=)
c.4938_4940delinsAAG (p.Lys1646=)
c.4866_4868delinsAAG (p.Lys1622=)
c.1632_1634delinsAAG (p.Lys544=)
c.1494_1496delinsAAG (p.Lys498=)
c.4056_4058delinsAAG (p.Lys1352=)
c.4821_4823delinsAAG (p.Lys1607=)
c.5010_5012delinsAAG (p.Lys1670=)
c.4803_4805delinsAAG (p.Lys1601=)
c.1506_1508delinsAAG (p.Lys502=)
c.1551_1553delinsAAG (p.Lys517=)
c.5007_5009delinsAAG (p.Lys1669=)
c.1331_1333delinsAAG
c.1518_1520delinsAAG (p.Lys506=)
c.*4727_*4729delinsAAG (n.*4727_*4729delinsAAG)
n.97_99delinsAAG
c.1257_1259delinsAAG (p.Lys419=)
c.5-7019_5-7017delinsAAG (n.5-7019_5-7017delinsAAG)
c.417_419delinsAAG (p.Lys139=)
c.-98-20780_-98-20778delinsAAG (n.-98-20780_-98-20778delinsAAG)
n.5080_5082delinsAAG
n.5121_5123delinsAAG
17g.43070969T>ACA10591633BRCA1c.4942A>T (p.Arg1648Ter)
c.4945A>T (p.Arg1649Ter)
c.4819A>T (p.Arg1607Ter)
c.4939A>T (p.Arg1647Ter)
c.4867A>T (p.Arg1623Ter)
c.1633A>T (p.Arg545Ter)
c.1495A>T (p.Arg499Ter)
c.4057A>T (p.Arg1353Ter)
c.4822A>T (p.Arg1608Ter)
c.5011A>T (p.Arg1671Ter)
c.4804A>T (p.Arg1602Ter)
c.1507A>T (p.Arg503Ter)
c.1552A>T (p.Arg518Ter)
c.5008A>T (p.Arg1670Ter)
c.1332A>T
c.1519A>T (p.Arg507Ter)
c.*4728A>T (n.*4728A>T)
n.98A>T
c.1258A>T (p.Arg420Ter)
c.5-7018A>T (n.5-7018A>T)
c.418A>T (p.Arg140Ter)
c.-98-20779A>T (n.-98-20779A>T)
n.5081A>T
n.5122A>T
 ClinVar dbSNP
17g.43070969T>CCA10591634BRCA1c.4942A>G (p.Arg1648Gly)
c.4945A>G (p.Arg1649Gly)
c.4819A>G (p.Arg1607Gly)
c.4939A>G (p.Arg1647Gly)
c.4867A>G (p.Arg1623Gly)
c.1633A>G (p.Arg545Gly)
c.1495A>G (p.Arg499Gly)
c.4057A>G (p.Arg1353Gly)
c.4822A>G (p.Arg1608Gly)
c.5011A>G (p.Arg1671Gly)
c.4804A>G (p.Arg1602Gly)
c.1507A>G (p.Arg503Gly)
c.1552A>G (p.Arg518Gly)
c.5008A>G (p.Arg1670Gly)
c.1332A>G
c.1519A>G (p.Arg507Gly)
c.*4728A>G (n.*4728A>G)
n.98A>G
c.1258A>G (p.Arg420Gly)
c.5-7018A>G (n.5-7018A>G)
c.418A>G (p.Arg140Gly)
c.-98-20779A>G (n.-98-20779A>G)
n.5081A>G
n.5122A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43070969T>GCA500231595BRCA1c.4942A>C (p.Arg1648=)
c.4945A>C (p.Arg1649=)
c.4819A>C (p.Arg1607=)
c.4939A>C (p.Arg1647=)
c.4867A>C (p.Arg1623=)
c.1633A>C (p.Arg545=)
c.1495A>C (p.Arg499=)
c.4057A>C (p.Arg1353=)
c.4822A>C (p.Arg1608=)
c.5011A>C (p.Arg1671=)
c.4804A>C (p.Arg1602=)
c.1507A>C (p.Arg503=)
c.1552A>C (p.Arg518=)
c.5008A>C (p.Arg1670=)
c.1332A>C
c.1519A>C (p.Arg507=)
c.*4728A>C (n.*4728A>C)
n.98A>C
c.1258A>C (p.Arg420=)
c.5-7018A>C (n.5-7018A>C)
c.418A>C (p.Arg140=)
c.-98-20779A>C (n.-98-20779A>C)
n.5081A>C
n.5122A>C
 ClinVar dbSNP
17g.43070969T=CA2260772782BRCA1c.4942A= (p.Arg1648=)
c.4945A= (p.Arg1649=)
c.4819A= (p.Arg1607=)
c.4939A= (p.Arg1647=)
c.4867A= (p.Arg1623=)
c.1633A= (p.Arg545=)
c.1495A= (p.Arg499=)
c.4057A= (p.Arg1353=)
c.4822A= (p.Arg1608=)
c.5011A= (p.Arg1671=)
c.4804A= (p.Arg1602=)
c.1507A= (p.Arg503=)
c.1552A= (p.Arg518=)
c.5008A= (p.Arg1670=)
c.1332A=
c.1519A= (p.Arg507=)
c.*4728A= (n.*4728A=)
n.98A=
c.1258A= (p.Arg420=)
c.5-7018A= (n.5-7018A=)
c.418A= (p.Arg140=)
c.-98-20779A= (n.-98-20779A=)
n.5081A=
n.5122A=
17g.43070972delCA003094BRCA1c.4942del (p.Arg1648GlufsTer9)
c.4945del (p.Arg1649GlufsTer9)
c.4819del (p.Arg1607GlufsTer9)
c.4939del (p.Arg1647GlufsTer9)
c.4867del (p.Arg1623GlufsTer9)
c.1633del (p.Arg545GlufsTer9)
c.1495del (p.Arg499GlufsTer9)
c.4057del (p.Arg1353GlufsTer9)
c.4822del (p.Arg1608GlufsTer9)
c.5011del (p.Arg1671GlufsTer9)
c.4804del (p.Arg1602GlufsTer9)
c.1507del (p.Arg503GlufsTer9)
c.1552del (p.Arg518GlufsTer9)
c.5008del (p.Arg1670GlufsTer9)
c.1332del
c.1519del (p.Arg507GlufsTer9)
c.*4728del (n.*4728del)
n.98del
c.1258del (p.Arg420GlufsTer9)
c.5-7018del (n.5-7018del)
c.418del (p.Arg140GlufsTer9)
c.-98-20779del (n.-98-20779del)
n.5081del
n.5122del
 ClinVar dbSNP
17g.43070971_43070972delCA003095BRCA1c.4941_4942del (p.Arg1648AsnfsTer29)
c.4944_4945del (p.Arg1649AsnfsTer29)
c.4818_4819del (p.Arg1607AsnfsTer29)
c.4938_4939del (p.Arg1647AsnfsTer29)
c.4866_4867del (p.Arg1623AsnfsTer29)
c.1632_1633del (p.Arg545AsnfsTer29)
c.1494_1495del (p.Arg499AsnfsTer29)
c.4056_4057del (p.Arg1353AsnfsTer29)
c.4821_4822del (p.Arg1608AsnfsTer29)
c.5010_5011del (p.Arg1671AsnfsTer29)
c.4803_4804del (p.Arg1602AsnfsTer29)
c.1506_1507del (p.Arg503AsnfsTer29)
c.1551_1552del (p.Arg518AsnfsTer25)
c.5007_5008del (p.Arg1670AsnfsTer29)
c.1331_1332del
c.1518_1519del (p.Arg507AsnfsTer29)
c.*4727_*4728del (n.*4727_*4728del)
n.97_98del
c.1257_1258del (p.Arg420AsnfsTer29)
c.5-7019_5-7018del (n.5-7019_5-7018del)
c.417_418del (p.Arg140AsnfsTer29)
c.-98-20780_-98-20779del (n.-98-20780_-98-20779del)
n.5080_5081del
n.5121_5122del
 ClinVar dbSNP
17g.43070969_43070970insAAAACA915950104BRCA1c.4941_4942insTTTT (p.Arg1648PhefsTer2)
c.4944_4945insTTTT (p.Arg1649PhefsTer2)
c.4818_4819insTTTT (p.Arg1607PhefsTer2)
c.4938_4939insTTTT (p.Arg1647PhefsTer2)
c.4866_4867insTTTT (p.Arg1623PhefsTer2)
c.1632_1633insTTTT (p.Arg545PhefsTer2)
c.1494_1495insTTTT (p.Arg499PhefsTer2)
c.4056_4057insTTTT (p.Arg1353PhefsTer2)
c.4821_4822insTTTT (p.Arg1608PhefsTer2)
c.5010_5011insTTTT (p.Arg1671PhefsTer2)
c.4803_4804insTTTT (p.Arg1602PhefsTer2)
c.1506_1507insTTTT (p.Arg503PhefsTer2)
c.1551_1552insTTTT (p.Arg518PhefsTer2)
c.5007_5008insTTTT (p.Arg1670PhefsTer2)
c.1331_1332insTTTT
c.1518_1519insTTTT (p.Arg507PhefsTer2)
c.*4727_*4728insTTTT (n.*4727_*4728insTTTT)
n.97_98insTTTT
c.1257_1258insTTTT (p.Arg420PhefsTer2)
c.5-7019_5-7018insTTTT (n.5-7019_5-7018insTTTT)
c.417_418insTTTT (p.Arg140PhefsTer2)
c.-98-20780_-98-20779insTTTT (n.-98-20780_-98-20779insTTTT)
n.5080_5081insTTTT
n.5121_5122insTTTT
 ClinVar dbSNP gnomAD v4
17g.43070970T>ACA10591635BRCA1c.4941A>T (p.Lys1647Asn)
c.4944A>T (p.Lys1648Asn)
c.4818A>T (p.Lys1606Asn)
c.4938A>T (p.Lys1646Asn)
c.4866A>T (p.Lys1622Asn)
c.1632A>T (p.Lys544Asn)
c.1494A>T (p.Lys498Asn)
c.4056A>T (p.Lys1352Asn)
c.4821A>T (p.Lys1607Asn)
c.5010A>T (p.Lys1670Asn)
c.4803A>T (p.Lys1601Asn)
c.1506A>T (p.Lys502Asn)
c.1551A>T (p.Lys517Asn)
c.5007A>T (p.Lys1669Asn)
c.1331A>T
c.1518A>T (p.Lys506Asn)
c.*4727A>T (n.*4727A>T)
n.97A>T
c.1257A>T (p.Lys419Asn)
c.5-7019A>T (n.5-7019A>T)
c.417A>T (p.Lys139Asn)
c.-98-20780A>T (n.-98-20780A>T)
n.5080A>T
n.5121A>T
 ClinVar dbSNP
17g.43070970T>CCA500231597BRCA1c.4941A>G (p.Lys1647=)
c.4944A>G (p.Lys1648=)
c.4818A>G (p.Lys1606=)
c.4938A>G (p.Lys1646=)
c.4866A>G (p.Lys1622=)
c.1632A>G (p.Lys544=)
c.1494A>G (p.Lys498=)
c.4056A>G (p.Lys1352=)
c.4821A>G (p.Lys1607=)
c.5010A>G (p.Lys1670=)
c.4803A>G (p.Lys1601=)
c.1506A>G (p.Lys502=)
c.1551A>G (p.Lys517=)
c.5007A>G (p.Lys1669=)
c.1331A>G
c.1518A>G (p.Lys506=)
c.*4727A>G (n.*4727A>G)
n.97A>G
c.1257A>G (p.Lys419=)
c.5-7019A>G (n.5-7019A>G)
c.417A>G (p.Lys139=)
c.-98-20780A>G (n.-98-20780A>G)
n.5080A>G
n.5121A>G
 ClinVar dbSNP
17g.43070970T>GCA10591636BRCA1c.4941A>C (p.Lys1647Asn)
c.4944A>C (p.Lys1648Asn)
c.4818A>C (p.Lys1606Asn)
c.4938A>C (p.Lys1646Asn)
c.4866A>C (p.Lys1622Asn)
c.1632A>C (p.Lys544Asn)
c.1494A>C (p.Lys498Asn)
c.4056A>C (p.Lys1352Asn)
c.4821A>C (p.Lys1607Asn)
c.5010A>C (p.Lys1670Asn)
c.4803A>C (p.Lys1601Asn)
c.1506A>C (p.Lys502Asn)
c.1551A>C (p.Lys517Asn)
c.5007A>C (p.Lys1669Asn)
c.1331A>C
c.1518A>C (p.Lys506Asn)
c.*4727A>C (n.*4727A>C)
n.97A>C
c.1257A>C (p.Lys419Asn)
c.5-7019A>C (n.5-7019A>C)
c.417A>C (p.Lys139Asn)
c.-98-20780A>C (n.-98-20780A>C)
n.5080A>C
n.5121A>C
 ClinVar dbSNP
17g.43070970T=CA2260772783BRCA1c.4941A= (p.Lys1647=)
c.4944A= (p.Lys1648=)
c.4818A= (p.Lys1606=)
c.4938A= (p.Lys1646=)
c.4866A= (p.Lys1622=)
c.1632A= (p.Lys544=)
c.1494A= (p.Lys498=)
c.4056A= (p.Lys1352=)
c.4821A= (p.Lys1607=)
c.5010A= (p.Lys1670=)
c.4803A= (p.Lys1601=)
c.1506A= (p.Lys502=)
c.1551A= (p.Lys517=)
c.5007A= (p.Lys1669=)
c.1331A=
c.1518A= (p.Lys506=)
c.*4727A= (n.*4727A=)
n.97A=
c.1257A= (p.Lys419=)
c.5-7019A= (n.5-7019A=)
c.417A= (p.Lys139=)
c.-98-20780A= (n.-98-20780A=)
n.5080A=
n.5121A=
17g.43070971T>ACA10591637BRCA1c.4940A>T (p.Lys1647Ile)
c.4943A>T (p.Lys1648Ile)
c.4817A>T (p.Lys1606Ile)
c.4937A>T (p.Lys1646Ile)
c.4865A>T (p.Lys1622Ile)
c.1631A>T (p.Lys544Ile)
c.1493A>T (p.Lys498Ile)
c.4055A>T (p.Lys1352Ile)
c.4820A>T (p.Lys1607Ile)
c.5009A>T (p.Lys1670Ile)
c.4802A>T (p.Lys1601Ile)
c.1505A>T (p.Lys502Ile)
c.1550A>T (p.Lys517Ile)
c.5006A>T (p.Lys1669Ile)
c.1330A>T
c.1517A>T (p.Lys506Ile)
c.*4726A>T (n.*4726A>T)
n.96A>T
c.1256A>T (p.Lys419Ile)
c.5-7020A>T (n.5-7020A>T)
c.416A>T (p.Lys139Ile)
c.-98-20781A>T (n.-98-20781A>T)
n.5079A>T
n.5120A>T
 ClinVar dbSNP
17g.43070971T>CCA10591638BRCA1c.4940A>G (p.Lys1647Arg)
c.4943A>G (p.Lys1648Arg)
c.4817A>G (p.Lys1606Arg)
c.4937A>G (p.Lys1646Arg)
c.4865A>G (p.Lys1622Arg)
c.1631A>G (p.Lys544Arg)
c.1493A>G (p.Lys498Arg)
c.4055A>G (p.Lys1352Arg)
c.4820A>G (p.Lys1607Arg)
c.5009A>G (p.Lys1670Arg)
c.4802A>G (p.Lys1601Arg)
c.1505A>G (p.Lys502Arg)
c.1550A>G (p.Lys517Arg)
c.5006A>G (p.Lys1669Arg)
c.1330A>G
c.1517A>G (p.Lys506Arg)
c.*4726A>G (n.*4726A>G)
n.96A>G
c.1256A>G (p.Lys419Arg)
c.5-7020A>G (n.5-7020A>G)
c.416A>G (p.Lys139Arg)
c.-98-20781A>G (n.-98-20781A>G)
n.5079A>G
n.5120A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43070971T>GCA10591639BRCA1c.4940A>C (p.Lys1647Thr)
c.4943A>C (p.Lys1648Thr)
c.4817A>C (p.Lys1606Thr)
c.4937A>C (p.Lys1646Thr)
c.4865A>C (p.Lys1622Thr)
c.1631A>C (p.Lys544Thr)
c.1493A>C (p.Lys498Thr)
c.4055A>C (p.Lys1352Thr)
c.4820A>C (p.Lys1607Thr)
c.5009A>C (p.Lys1670Thr)
c.4802A>C (p.Lys1601Thr)
c.1505A>C (p.Lys502Thr)
c.1550A>C (p.Lys517Thr)
c.5006A>C (p.Lys1669Thr)
c.1330A>C
c.1517A>C (p.Lys506Thr)
c.*4726A>C (n.*4726A>C)
n.96A>C
c.1256A>C (p.Lys419Thr)
c.5-7020A>C (n.5-7020A>C)
c.416A>C (p.Lys139Thr)
c.-98-20781A>C (n.-98-20781A>C)
n.5079A>C
n.5120A>C
 ClinVar dbSNP
17g.43070971T=CA2260772784BRCA1c.4940A= (p.Lys1647=)
c.4943A= (p.Lys1648=)
c.4817A= (p.Lys1606=)
c.4937A= (p.Lys1646=)
c.4865A= (p.Lys1622=)
c.1631A= (p.Lys544=)
c.1493A= (p.Lys498=)
c.4055A= (p.Lys1352=)
c.4820A= (p.Lys1607=)
c.5009A= (p.Lys1670=)
c.4802A= (p.Lys1601=)
c.1505A= (p.Lys502=)
c.1550A= (p.Lys517=)
c.5006A= (p.Lys1669=)
c.1330A=
c.1517A= (p.Lys506=)
c.*4726A= (n.*4726A=)
n.96A=
c.1256A= (p.Lys419=)
c.5-7020A= (n.5-7020A=)
c.416A= (p.Lys139=)
c.-98-20781A= (n.-98-20781A=)
n.5079A=
n.5120A=
17g.43070972T>ACA10591640BRCA1c.4939A>T (p.Lys1647Ter)
c.4942A>T (p.Lys1648Ter)
c.4816A>T (p.Lys1606Ter)
c.4936A>T (p.Lys1646Ter)
c.4864A>T (p.Lys1622Ter)
c.1630A>T (p.Lys544Ter)
c.1492A>T (p.Lys498Ter)
c.4054A>T (p.Lys1352Ter)
c.4819A>T (p.Lys1607Ter)
c.5008A>T (p.Lys1670Ter)
c.4801A>T (p.Lys1601Ter)
c.1504A>T (p.Lys502Ter)
c.1549A>T (p.Lys517Ter)
c.5005A>T (p.Lys1669Ter)
c.1329A>T
c.1516A>T (p.Lys506Ter)
c.*4725A>T (n.*4725A>T)
n.95A>T
c.1255A>T (p.Lys419Ter)
c.5-7021A>T (n.5-7021A>T)
c.415A>T (p.Lys139Ter)
c.-98-20782A>T (n.-98-20782A>T)
n.5078A>T
n.5119A>T
 ClinVar dbSNP
17g.43070972T>CCA053462BRCA1c.4939A>G (p.Lys1647Glu)
c.4942A>G (p.Lys1648Glu)
c.4816A>G (p.Lys1606Glu)
c.4936A>G (p.Lys1646Glu)
c.4864A>G (p.Lys1622Glu)
c.1630A>G (p.Lys544Glu)
c.1492A>G (p.Lys498Glu)
c.4054A>G (p.Lys1352Glu)
c.4819A>G (p.Lys1607Glu)
c.5008A>G (p.Lys1670Glu)
c.4801A>G (p.Lys1601Glu)
c.1504A>G (p.Lys502Glu)
c.1549A>G (p.Lys517Glu)
c.5005A>G (p.Lys1669Glu)
c.1329A>G
c.1516A>G (p.Lys506Glu)
c.*4725A>G (n.*4725A>G)
n.95A>G
c.1255A>G (p.Lys419Glu)
c.5-7021A>G (n.5-7021A>G)
c.415A>G (p.Lys139Glu)
c.-98-20782A>G (n.-98-20782A>G)
n.5078A>G
n.5119A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43070972T>GCA10591641BRCA1c.4939A>C (p.Lys1647Gln)
c.4942A>C (p.Lys1648Gln)
c.4816A>C (p.Lys1606Gln)
c.4936A>C (p.Lys1646Gln)
c.4864A>C (p.Lys1622Gln)
c.1630A>C (p.Lys544Gln)
c.1492A>C (p.Lys498Gln)
c.4054A>C (p.Lys1352Gln)
c.4819A>C (p.Lys1607Gln)
c.5008A>C (p.Lys1670Gln)
c.4801A>C (p.Lys1601Gln)
c.1504A>C (p.Lys502Gln)
c.1549A>C (p.Lys517Gln)
c.5005A>C (p.Lys1669Gln)
c.1329A>C
c.1516A>C (p.Lys506Gln)
c.*4725A>C (n.*4725A>C)
n.95A>C
c.1255A>C (p.Lys419Gln)
c.5-7021A>C (n.5-7021A>C)
c.415A>C (p.Lys139Gln)
c.-98-20782A>C (n.-98-20782A>C)
n.5078A>C
n.5119A>C
 ClinVar dbSNP
17g.43070972T=CA2260772785BRCA1c.4939A= (p.Lys1647=)
c.4942A= (p.Lys1648=)
c.4816A= (p.Lys1606=)
c.4936A= (p.Lys1646=)
c.4864A= (p.Lys1622=)
c.1630A= (p.Lys544=)
c.1492A= (p.Lys498=)
c.4054A= (p.Lys1352=)
c.4819A= (p.Lys1607=)
c.5008A= (p.Lys1670=)
c.4801A= (p.Lys1601=)
c.1504A= (p.Lys502=)
c.1549A= (p.Lys517=)
c.5005A= (p.Lys1669=)
c.1329A=
c.1516A= (p.Lys506=)
c.*4725A= (n.*4725A=)
n.95A=
c.1255A= (p.Lys419=)
c.5-7021A= (n.5-7021A=)
c.415A= (p.Lys139=)
c.-98-20782A= (n.-98-20782A=)
n.5078A=
n.5119A=
17g.43070972_43070973delinsTGCA2260772787BRCA1c.4938_4939delinsCA (p.Asn1646=)
c.4941_4942delinsCA (p.Asn1647=)
c.4815_4816delinsCA (p.Asn1605=)
c.4935_4936delinsCA (p.Asn1645=)
c.4863_4864delinsCA (p.Asn1621=)
c.1629_1630delinsCA (p.Asn543=)
c.1491_1492delinsCA (p.Asn497=)
c.4053_4054delinsCA (p.Asn1351=)
c.4818_4819delinsCA (p.Asn1606=)
c.5007_5008delinsCA (p.Asn1669=)
c.4800_4801delinsCA (p.Asn1600=)
c.1503_1504delinsCA (p.Asn501=)
c.1548_1549delinsCA (p.Asn516=)
c.5004_5005delinsCA (p.Asn1668=)
c.1328_1329delinsCA
c.1515_1516delinsCA (p.Asn505=)
c.*4724_*4725delinsCA (n.*4724_*4725delinsCA)
n.94_95delinsCA
c.1254_1255delinsCA (p.Asn418=)
c.5-7022_5-7021delinsCA (n.5-7022_5-7021delinsCA)
c.414_415delinsCA (p.Asn138=)
c.-98-20783_-98-20782delinsCA (n.-98-20783_-98-20782delinsCA)
n.5077_5078delinsCA
n.5118_5119delinsCA
17g.43070972_43071054delinsTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCACA2260772786BRCA1c.4857_4939delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr1619=)
c.4860_4942delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr1620=)
c.4734_4816delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr1578=)
c.4854_4936delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr1618=)
c.4782_4864delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr1594=)
c.1548_1630delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr516=)
c.1410_1492delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr470=)
c.3972_4054delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr1324=)
c.4737_4819delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr1579=)
c.4926_5008delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr1642=)
c.4719_4801delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr1573=)
c.1422_1504delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr474=)
c.1467_1549delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr489=)
c.4923_5005delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr1641=)
c.1247_1329delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA
c.1434_1516delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr478=)
c.*4643_*4725delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (n.*4643_*4725delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA)
n.13_95delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA
c.1173_1255delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr391=)
c.5-7103_5-7021delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (n.5-7103_5-7021delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA)
c.333_415delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr111=)
c.-98-20864_-98-20782delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (n.-98-20864_-98-20782delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA)
n.4996_5078delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA
n.5037_5119delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA
17g.43070973delCA003093BRCA1c.4938del (p.Asn1646LysfsTer11)
c.4941del (p.Asn1647LysfsTer11)
c.4815del (p.Asn1605LysfsTer11)
c.4935del (p.Asn1645LysfsTer11)
c.4863del (p.Asn1621LysfsTer11)
c.1629del (p.Asn543LysfsTer11)
c.1491del (p.Asn497LysfsTer11)
c.4053del (p.Asn1351LysfsTer11)
c.4818del (p.Asn1606LysfsTer11)
c.5007del (p.Asn1669LysfsTer11)
c.4800del (p.Asn1600LysfsTer11)
c.1503del (p.Asn501LysfsTer11)
c.1548del (p.Asn516LysfsTer11)
c.5004del (p.Asn1668LysfsTer11)
c.1328del
c.1515del (p.Asn505LysfsTer11)
c.*4724del (n.*4724del)
n.94del
c.1254del (p.Asn418LysfsTer11)
c.5-7022del (n.5-7022del)
c.414del (p.Asn138LysfsTer11)
c.-98-20783del (n.-98-20783del)
n.5077del
n.5118del
 ClinVar dbSNP
17g.43070973G>ACA500231606BRCA1c.4938C>T (p.Asn1646=)
c.4941C>T (p.Asn1647=)
c.4815C>T (p.Asn1605=)
c.4935C>T (p.Asn1645=)
c.4863C>T (p.Asn1621=)
c.1629C>T (p.Asn543=)
c.1491C>T (p.Asn497=)
c.4053C>T (p.Asn1351=)
c.4818C>T (p.Asn1606=)
c.5007C>T (p.Asn1669=)
c.4800C>T (p.Asn1600=)
c.1503C>T (p.Asn501=)
c.1548C>T (p.Asn516=)
c.5004C>T (p.Asn1668=)
c.1328C>T
c.1515C>T (p.Asn505=)
c.*4724C>T (n.*4724C>T)
n.94C>T
c.1254C>T (p.Asn418=)
c.5-7022C>T (n.5-7022C>T)
c.414C>T (p.Asn138=)
c.-98-20783C>T (n.-98-20783C>T)
n.5077C>T
n.5118C>T
 ClinVar dbSNP
17g.43070973G>CCA10591642BRCA1c.4938C>G (p.Asn1646Lys)
c.4941C>G (p.Asn1647Lys)
c.4815C>G (p.Asn1605Lys)
c.4935C>G (p.Asn1645Lys)
c.4863C>G (p.Asn1621Lys)
c.1629C>G (p.Asn543Lys)
c.1491C>G (p.Asn497Lys)
c.4053C>G (p.Asn1351Lys)
c.4818C>G (p.Asn1606Lys)
c.5007C>G (p.Asn1669Lys)
c.4800C>G (p.Asn1600Lys)
c.1503C>G (p.Asn501Lys)
c.1548C>G (p.Asn516Lys)
c.5004C>G (p.Asn1668Lys)
c.1328C>G
c.1515C>G (p.Asn505Lys)
c.*4724C>G (n.*4724C>G)
n.94C>G
c.1254C>G (p.Asn418Lys)
c.5-7022C>G (n.5-7022C>G)
c.414C>G (p.Asn138Lys)
c.-98-20783C>G (n.-98-20783C>G)
n.5077C>G
n.5118C>G
 ClinVar dbSNP gnomAD v4
17g.43070973G=CA2260772788BRCA1c.4938C= (p.Asn1646=)
c.4941C= (p.Asn1647=)
c.4815C= (p.Asn1605=)
c.4935C= (p.Asn1645=)
c.4863C= (p.Asn1621=)
c.1629C= (p.Asn543=)
c.1491C= (p.Asn497=)
c.4053C= (p.Asn1351=)
c.4818C= (p.Asn1606=)
c.5007C= (p.Asn1669=)
c.4800C= (p.Asn1600=)
c.1503C= (p.Asn501=)
c.1548C= (p.Asn516=)
c.5004C= (p.Asn1668=)
c.1328C=
c.1515C= (p.Asn505=)
c.*4724C= (n.*4724C=)
n.94C=
c.1254C= (p.Asn418=)
c.5-7022C= (n.5-7022C=)
c.414C= (p.Asn138=)
c.-98-20783C= (n.-98-20783C=)
n.5077C=
n.5118C=
17g.43070973G>TCA003092BRCA1c.4938C>A (p.Asn1646Lys)
c.4941C>A (p.Asn1647Lys)
c.4815C>A (p.Asn1605Lys)
c.4935C>A (p.Asn1645Lys)
c.4863C>A (p.Asn1621Lys)
c.1629C>A (p.Asn543Lys)
c.1491C>A (p.Asn497Lys)
c.4053C>A (p.Asn1351Lys)
c.4818C>A (p.Asn1606Lys)
c.5007C>A (p.Asn1669Lys)
c.4800C>A (p.Asn1600Lys)
c.1503C>A (p.Asn501Lys)
c.1548C>A (p.Asn516Lys)
c.5004C>A (p.Asn1668Lys)
c.1328C>A
c.1515C>A (p.Asn505Lys)
c.*4724C>A (n.*4724C>A)
n.94C>A
c.1254C>A (p.Asn418Lys)
c.5-7022C>A (n.5-7022C>A)
c.414C>A (p.Asn138Lys)
c.-98-20783C>A (n.-98-20783C>A)
n.5077C>A
n.5118C>A
 ClinVar dbSNP gnomAD v4
17g.43070975_43071056delCA10589635BRCA1c.4857_4938del (p.Asp1620LysfsTer10)
c.4860_4941del (p.Asp1621LysfsTer10)
c.4734_4815del (p.Asp1579LysfsTer10)
c.4854_4935del (p.Asp1619LysfsTer10)
c.4782_4863del (p.Asp1595LysfsTer10)
c.1548_1629del (p.Asp517LysfsTer10)
c.1410_1491del (p.Asp471LysfsTer10)
c.3972_4053del (p.Asp1325LysfsTer10)
c.4737_4818del (p.Asp1580LysfsTer10)
c.4926_5007del (p.Asp1643LysfsTer10)
c.4719_4800del (p.Asp1574LysfsTer10)
c.1422_1503del (p.Asp475LysfsTer10)
c.1467_1548del (p.Asp490LysfsTer10)
c.4923_5004del (p.Asp1642LysfsTer10)
c.1247_1328del
c.1434_1515del (p.Asp479LysfsTer10)
c.*4643_*4724del (n.*4643_*4724del)
n.13_94del
c.1173_1254del (p.Asp392LysfsTer10)
c.5-7103_5-7022del (n.5-7103_5-7022del)
c.333_414del (p.Asp112LysfsTer10)
c.-98-20864_-98-20783del (n.-98-20864_-98-20783del)
n.4996_5077del
n.5037_5118del
 ClinVar dbSNP
17g.43070974T>ACA10591643BRCA1c.4937A>T (p.Asn1646Ile)
c.4940A>T (p.Asn1647Ile)
c.4814A>T (p.Asn1605Ile)
c.4934A>T (p.Asn1645Ile)
c.4862A>T (p.Asn1621Ile)
c.1628A>T (p.Asn543Ile)
c.1490A>T (p.Asn497Ile)
c.4052A>T (p.Asn1351Ile)
c.4817A>T (p.Asn1606Ile)
c.5006A>T (p.Asn1669Ile)
c.4799A>T (p.Asn1600Ile)
c.1502A>T (p.Asn501Ile)
c.1547A>T (p.Asn516Ile)
c.5003A>T (p.Asn1668Ile)
c.1327A>T
c.1514A>T (p.Asn505Ile)
c.*4723A>T (n.*4723A>T)
n.93A>T
c.1253A>T (p.Asn418Ile)
c.5-7023A>T (n.5-7023A>T)
c.413A>T (p.Asn138Ile)
c.-98-20784A>T (n.-98-20784A>T)
n.5076A>T
n.5117A>T
 ClinVar dbSNP
17g.43070974T>CCA10591644BRCA1c.4937A>G (p.Asn1646Ser)
c.4940A>G (p.Asn1647Ser)
c.4814A>G (p.Asn1605Ser)
c.4934A>G (p.Asn1645Ser)
c.4862A>G (p.Asn1621Ser)
c.1628A>G (p.Asn543Ser)
c.1490A>G (p.Asn497Ser)
c.4052A>G (p.Asn1351Ser)
c.4817A>G (p.Asn1606Ser)
c.5006A>G (p.Asn1669Ser)
c.4799A>G (p.Asn1600Ser)
c.1502A>G (p.Asn501Ser)
c.1547A>G (p.Asn516Ser)
c.5003A>G (p.Asn1668Ser)
c.1327A>G
c.1514A>G (p.Asn505Ser)
c.*4723A>G (n.*4723A>G)
n.93A>G
c.1253A>G (p.Asn418Ser)
c.5-7023A>G (n.5-7023A>G)
c.413A>G (p.Asn138Ser)
c.-98-20784A>G (n.-98-20784A>G)
n.5076A>G
n.5117A>G
 ClinVar dbSNP
17g.43070974T>GCA10591645BRCA1c.4937A>C (p.Asn1646Thr)
c.4940A>C (p.Asn1647Thr)
c.4814A>C (p.Asn1605Thr)
c.4934A>C (p.Asn1645Thr)
c.4862A>C (p.Asn1621Thr)
c.1628A>C (p.Asn543Thr)
c.1490A>C (p.Asn497Thr)
c.4052A>C (p.Asn1351Thr)
c.4817A>C (p.Asn1606Thr)
c.5006A>C (p.Asn1669Thr)
c.4799A>C (p.Asn1600Thr)
c.1502A>C (p.Asn501Thr)
c.1547A>C (p.Asn516Thr)
c.5003A>C (p.Asn1668Thr)
c.1327A>C
c.1514A>C (p.Asn505Thr)
c.*4723A>C (n.*4723A>C)
n.93A>C
c.1253A>C (p.Asn418Thr)
c.5-7023A>C (n.5-7023A>C)
c.413A>C (p.Asn138Thr)
c.-98-20784A>C (n.-98-20784A>C)
n.5076A>C
n.5117A>C
 ClinVar dbSNP
17g.43070974T=CA2260772789BRCA1c.4937A= (p.Asn1646=)
c.4940A= (p.Asn1647=)
c.4814A= (p.Asn1605=)
c.4934A= (p.Asn1645=)
c.4862A= (p.Asn1621=)
c.1628A= (p.Asn543=)
c.1490A= (p.Asn497=)
c.4052A= (p.Asn1351=)
c.4817A= (p.Asn1606=)
c.5006A= (p.Asn1669=)
c.4799A= (p.Asn1600=)
c.1502A= (p.Asn501=)
c.1547A= (p.Asn516=)
c.5003A= (p.Asn1668=)
c.1327A=
c.1514A= (p.Asn505=)
c.*4723A= (n.*4723A=)
n.93A=
c.1253A= (p.Asn418=)
c.5-7023A= (n.5-7023A=)
c.413A= (p.Asn138=)
c.-98-20784A= (n.-98-20784A=)
n.5076A=
n.5117A=
17g.43070975T>ACA10591646BRCA1c.4936A>T (p.Asn1646Tyr)
c.4939A>T (p.Asn1647Tyr)
c.4813A>T (p.Asn1605Tyr)
c.4933A>T (p.Asn1645Tyr)
c.4861A>T (p.Asn1621Tyr)
c.1627A>T (p.Asn543Tyr)
c.1489A>T (p.Asn497Tyr)
c.4051A>T (p.Asn1351Tyr)
c.4816A>T (p.Asn1606Tyr)
c.5005A>T (p.Asn1669Tyr)
c.4798A>T (p.Asn1600Tyr)
c.1501A>T (p.Asn501Tyr)
c.1546A>T (p.Asn516Tyr)
c.5002A>T (p.Asn1668Tyr)
c.1326A>T
c.1513A>T (p.Asn505Tyr)
c.*4722A>T (n.*4722A>T)
n.92A>T
c.1252A>T (p.Asn418Tyr)
c.5-7024A>T (n.5-7024A>T)
c.412A>T (p.Asn138Tyr)
c.-98-20785A>T (n.-98-20785A>T)
n.5075A>T
n.5116A>T
 ClinVar dbSNP
17g.43070975T>CCA10591647BRCA1c.4936A>G (p.Asn1646Asp)
c.4939A>G (p.Asn1647Asp)
c.4813A>G (p.Asn1605Asp)
c.4933A>G (p.Asn1645Asp)
c.4861A>G (p.Asn1621Asp)
c.1627A>G (p.Asn543Asp)
c.1489A>G (p.Asn497Asp)
c.4051A>G (p.Asn1351Asp)
c.4816A>G (p.Asn1606Asp)
c.5005A>G (p.Asn1669Asp)
c.4798A>G (p.Asn1600Asp)
c.1501A>G (p.Asn501Asp)
c.1546A>G (p.Asn516Asp)
c.5002A>G (p.Asn1668Asp)
c.1326A>G
c.1513A>G (p.Asn505Asp)
c.*4722A>G (n.*4722A>G)
n.92A>G
c.1252A>G (p.Asn418Asp)
c.5-7024A>G (n.5-7024A>G)
c.412A>G (p.Asn138Asp)
c.-98-20785A>G (n.-98-20785A>G)
n.5075A>G
n.5116A>G
 ClinVar dbSNP
17g.43070975T>GCA10591648BRCA1c.4936A>C (p.Asn1646His)
c.4939A>C (p.Asn1647His)
c.4813A>C (p.Asn1605His)
c.4933A>C (p.Asn1645His)
c.4861A>C (p.Asn1621His)
c.1627A>C (p.Asn543His)
c.1489A>C (p.Asn497His)
c.4051A>C (p.Asn1351His)
c.4816A>C (p.Asn1606His)
c.5005A>C (p.Asn1669His)
c.4798A>C (p.Asn1600His)
c.1501A>C (p.Asn501His)
c.1546A>C (p.Asn516His)
c.5002A>C (p.Asn1668His)
c.1326A>C
c.1513A>C (p.Asn505His)
c.*4722A>C (n.*4722A>C)
n.92A>C
c.1252A>C (p.Asn418His)
c.5-7024A>C (n.5-7024A>C)
c.412A>C (p.Asn138His)
c.-98-20785A>C (n.-98-20785A>C)
n.5075A>C
n.5116A>C
 ClinVar dbSNP
17g.43070975T=CA2260772790BRCA1c.4936A= (p.Asn1646=)
c.4939A= (p.Asn1647=)
c.4813A= (p.Asn1605=)
c.4933A= (p.Asn1645=)
c.4861A= (p.Asn1621=)
c.1627A= (p.Asn543=)
c.1489A= (p.Asn497=)
c.4051A= (p.Asn1351=)
c.4816A= (p.Asn1606=)
c.5005A= (p.Asn1669=)
c.4798A= (p.Asn1600=)
c.1501A= (p.Asn501=)
c.1546A= (p.Asn516=)
c.5002A= (p.Asn1668=)
c.1326A=
c.1513A= (p.Asn505=)
c.*4722A= (n.*4722A=)
n.92A=
c.1252A= (p.Asn418=)
c.5-7024A= (n.5-7024A=)
c.412A= (p.Asn138=)
c.-98-20785A= (n.-98-20785A=)
n.5075A=
n.5116A=
17g.43070976G>ACA500231617BRCA1c.4935C>T (p.Val1645=)
c.4938C>T (p.Val1646=)
c.4812C>T (p.Val1604=)
c.4932C>T (p.Val1644=)
c.4860C>T (p.Val1620=)
c.1626C>T (p.Val542=)
c.1488C>T (p.Val496=)
c.4050C>T (p.Val1350=)
c.4815C>T (p.Val1605=)
c.5004C>T (p.Val1668=)
c.4797C>T (p.Val1599=)
c.1500C>T (p.Val500=)
c.1545C>T (p.Val515=)
c.5001C>T (p.Val1667=)
c.1325C>T
c.1512C>T (p.Val504=)
c.*4721C>T (n.*4721C>T)
n.91C>T
c.1251C>T (p.Val417=)
c.5-7025C>T (n.5-7025C>T)
c.411C>T (p.Val137=)
c.-98-20786C>T (n.-98-20786C>T)
n.5074C>T
n.5115C>T
 ClinVar dbSNP
17g.43070976G>CCA500231618BRCA1c.4935C>G (p.Val1645=)
c.4938C>G (p.Val1646=)
c.4812C>G (p.Val1604=)
c.4932C>G (p.Val1644=)
c.4860C>G (p.Val1620=)
c.1626C>G (p.Val542=)
c.1488C>G (p.Val496=)
c.4050C>G (p.Val1350=)
c.4815C>G (p.Val1605=)
c.5004C>G (p.Val1668=)
c.4797C>G (p.Val1599=)
c.1500C>G (p.Val500=)
c.1545C>G (p.Val515=)
c.5001C>G (p.Val1667=)
c.1325C>G
c.1512C>G (p.Val504=)
c.*4721C>G (n.*4721C>G)
n.91C>G
c.1251C>G (p.Val417=)
c.5-7025C>G (n.5-7025C>G)
c.411C>G (p.Val137=)
c.-98-20786C>G (n.-98-20786C>G)
n.5074C>G
n.5115C>G
 ClinVar dbSNP
17g.43070976G=CA2260772791BRCA1c.4935C= (p.Val1645=)
c.4938C= (p.Val1646=)
c.4812C= (p.Val1604=)
c.4932C= (p.Val1644=)
c.4860C= (p.Val1620=)
c.1626C= (p.Val542=)
c.1488C= (p.Val496=)
c.4050C= (p.Val1350=)
c.4815C= (p.Val1605=)
c.5004C= (p.Val1668=)
c.4797C= (p.Val1599=)
c.1500C= (p.Val500=)
c.1545C= (p.Val515=)
c.5001C= (p.Val1667=)
c.1325C=
c.1512C= (p.Val504=)
c.*4721C= (n.*4721C=)
n.91C=
c.1251C= (p.Val417=)
c.5-7025C= (n.5-7025C=)
c.411C= (p.Val137=)
c.-98-20786C= (n.-98-20786C=)
n.5074C=
n.5115C=
17g.43070976G>TCA500231619BRCA1c.4935C>A (p.Val1645=)
c.4938C>A (p.Val1646=)
c.4812C>A (p.Val1604=)
c.4932C>A (p.Val1644=)
c.4860C>A (p.Val1620=)
c.1626C>A (p.Val542=)
c.1488C>A (p.Val496=)
c.4050C>A (p.Val1350=)
c.4815C>A (p.Val1605=)
c.5004C>A (p.Val1668=)
c.4797C>A (p.Val1599=)
c.1500C>A (p.Val500=)
c.1545C>A (p.Val515=)
c.5001C>A (p.Val1667=)
c.1325C>A
c.1512C>A (p.Val504=)
c.*4721C>A (n.*4721C>A)
n.91C>A
c.1251C>A (p.Val417=)
c.5-7025C>A (n.5-7025C>A)
c.411C>A (p.Val137=)
c.-98-20786C>A (n.-98-20786C>A)
n.5074C>A
n.5115C>A
 ClinVar dbSNP
17g.43070977A=CA2260772792BRCA1c.4934T= (p.Val1645=)
c.4937T= (p.Val1646=)
c.4811T= (p.Val1604=)
c.4931T= (p.Val1644=)
c.4859T= (p.Val1620=)
c.1625T= (p.Val542=)
c.1487T= (p.Val496=)
c.4049T= (p.Val1350=)
c.4814T= (p.Val1605=)
c.5003T= (p.Val1668=)
c.4796T= (p.Val1599=)
c.1499T= (p.Val500=)
c.1544T= (p.Val515=)
c.5000T= (p.Val1667=)
c.1324T=
c.1511T= (p.Val504=)
c.*4720T= (n.*4720T=)
n.90T=
c.1250T= (p.Val417=)
c.5-7026T= (n.5-7026T=)
c.410T= (p.Val137=)
c.-98-20787T= (n.-98-20787T=)
n.5073T=
n.5114T=
17g.43070977A>CCA10591649BRCA1c.4934T>G (p.Val1645Gly)
c.4937T>G (p.Val1646Gly)
c.4811T>G (p.Val1604Gly)
c.4931T>G (p.Val1644Gly)
c.4859T>G (p.Val1620Gly)
c.1625T>G (p.Val542Gly)
c.1487T>G (p.Val496Gly)
c.4049T>G (p.Val1350Gly)
c.4814T>G (p.Val1605Gly)
c.5003T>G (p.Val1668Gly)
c.4796T>G (p.Val1599Gly)
c.1499T>G (p.Val500Gly)
c.1544T>G (p.Val515Gly)
c.5000T>G (p.Val1667Gly)
c.1324T>G
c.1511T>G (p.Val504Gly)
c.*4720T>G (n.*4720T>G)
n.90T>G
c.1250T>G (p.Val417Gly)
c.5-7026T>G (n.5-7026T>G)
c.410T>G (p.Val137Gly)
c.-98-20787T>G (n.-98-20787T>G)
n.5073T>G
n.5114T>G
 ClinVar dbSNP
17g.43070977A>GCA10591650BRCA1c.4934T>C (p.Val1645Ala)
c.4937T>C (p.Val1646Ala)
c.4811T>C (p.Val1604Ala)
c.4931T>C (p.Val1644Ala)
c.4859T>C (p.Val1620Ala)
c.1625T>C (p.Val542Ala)
c.1487T>C (p.Val496Ala)
c.4049T>C (p.Val1350Ala)
c.4814T>C (p.Val1605Ala)
c.5003T>C (p.Val1668Ala)
c.4796T>C (p.Val1599Ala)
c.1499T>C (p.Val500Ala)
c.1544T>C (p.Val515Ala)
c.5000T>C (p.Val1667Ala)
c.1324T>C
c.1511T>C (p.Val504Ala)
c.*4720T>C (n.*4720T>C)
n.90T>C
c.1250T>C (p.Val417Ala)
c.5-7026T>C (n.5-7026T>C)
c.410T>C (p.Val137Ala)
c.-98-20787T>C (n.-98-20787T>C)
n.5073T>C
n.5114T>C
 ClinVar dbSNP
17g.43070977A>TCA10591651BRCA1c.4934T>A (p.Val1645Asp)
c.4937T>A (p.Val1646Asp)
c.4811T>A (p.Val1604Asp)
c.4931T>A (p.Val1644Asp)
c.4859T>A (p.Val1620Asp)
c.1625T>A (p.Val542Asp)
c.1487T>A (p.Val496Asp)
c.4049T>A (p.Val1350Asp)
c.4814T>A (p.Val1605Asp)
c.5003T>A (p.Val1668Asp)
c.4796T>A (p.Val1599Asp)
c.1499T>A (p.Val500Asp)
c.1544T>A (p.Val515Asp)
c.5000T>A (p.Val1667Asp)
c.1324T>A
c.1511T>A (p.Val504Asp)
c.*4720T>A (n.*4720T>A)
n.90T>A
c.1250T>A (p.Val417Asp)
c.5-7026T>A (n.5-7026T>A)
c.410T>A (p.Val137Asp)
c.-98-20787T>A (n.-98-20787T>A)
n.5073T>A
n.5114T>A
 ClinVar dbSNP
17g.43070977_43070978delinsACCA2260772793BRCA1c.4933_4934delinsGT (p.Val1645=)
c.4936_4937delinsGT (p.Val1646=)
c.4810_4811delinsGT (p.Val1604=)
c.4930_4931delinsGT (p.Val1644=)
c.4858_4859delinsGT (p.Val1620=)
c.1624_1625delinsGT (p.Val542=)
c.1486_1487delinsGT (p.Val496=)
c.4048_4049delinsGT (p.Val1350=)
c.4813_4814delinsGT (p.Val1605=)
c.5002_5003delinsGT (p.Val1668=)
c.4795_4796delinsGT (p.Val1599=)
c.1498_1499delinsGT (p.Val500=)
c.1543_1544delinsGT (p.Val515=)
c.4999_5000delinsGT (p.Val1667=)
c.1323_1324delinsGT
c.1510_1511delinsGT (p.Val504=)
c.*4719_*4720delinsGT (n.*4719_*4720delinsGT)
n.89_90delinsGT
c.1249_1250delinsGT (p.Val417=)
c.5-7027_5-7026delinsGT (n.5-7027_5-7026delinsGT)
c.409_410delinsGT (p.Val137=)
c.-98-20788_-98-20787delinsGT (n.-98-20788_-98-20787delinsGT)
n.5072_5073delinsGT
n.5113_5114delinsGT
17g.43070978C>ACA10591652BRCA1c.4933G>T (p.Val1645Phe)
c.4936G>T (p.Val1646Phe)
c.4810G>T (p.Val1604Phe)
c.4930G>T (p.Val1644Phe)
c.4858G>T (p.Val1620Phe)
c.1624G>T (p.Val542Phe)
c.1486G>T (p.Val496Phe)
c.4048G>T (p.Val1350Phe)
c.4813G>T (p.Val1605Phe)
c.5002G>T (p.Val1668Phe)
c.4795G>T (p.Val1599Phe)
c.1498G>T (p.Val500Phe)
c.1543G>T (p.Val515Phe)
c.4999G>T (p.Val1667Phe)
c.1323G>T
c.1510G>T (p.Val504Phe)
c.*4719G>T (n.*4719G>T)
n.89G>T
c.1249G>T (p.Val417Phe)
c.5-7027G>T (n.5-7027G>T)
c.409G>T (p.Val137Phe)
c.-98-20788G>T (n.-98-20788G>T)
n.5072G>T
n.5113G>T
 ClinVar dbSNP
17g.43070978C=CA2260772794BRCA1c.4933G= (p.Val1645=)
c.4936G= (p.Val1646=)
c.4810G= (p.Val1604=)
c.4930G= (p.Val1644=)
c.4858G= (p.Val1620=)
c.1624G= (p.Val542=)
c.1486G= (p.Val496=)
c.4048G= (p.Val1350=)
c.4813G= (p.Val1605=)
c.5002G= (p.Val1668=)
c.4795G= (p.Val1599=)
c.1498G= (p.Val500=)
c.1543G= (p.Val515=)
c.4999G= (p.Val1667=)
c.1323G=
c.1510G= (p.Val504=)
c.*4719G= (n.*4719G=)
n.89G=
c.1249G= (p.Val417=)
c.5-7027G= (n.5-7027G=)
c.409G= (p.Val137=)
c.-98-20788G= (n.-98-20788G=)
n.5072G=
n.5113G=
17g.43070978C>GCA10591653BRCA1c.4933G>C (p.Val1645Leu)
c.4936G>C (p.Val1646Leu)
c.4810G>C (p.Val1604Leu)
c.4930G>C (p.Val1644Leu)
c.4858G>C (p.Val1620Leu)
c.1624G>C (p.Val542Leu)
c.1486G>C (p.Val496Leu)
c.4048G>C (p.Val1350Leu)
c.4813G>C (p.Val1605Leu)
c.5002G>C (p.Val1668Leu)
c.4795G>C (p.Val1599Leu)
c.1498G>C (p.Val500Leu)
c.1543G>C (p.Val515Leu)
c.4999G>C (p.Val1667Leu)
c.1323G>C
c.1510G>C (p.Val504Leu)
c.*4719G>C (n.*4719G>C)
n.89G>C
c.1249G>C (p.Val417Leu)
c.5-7027G>C (n.5-7027G>C)
c.409G>C (p.Val137Leu)
c.-98-20788G>C (n.-98-20788G>C)
n.5072G>C
n.5113G>C
 ClinVar dbSNP
17g.43070978C>TCA10591654BRCA1c.4933G>A (p.Val1645Ile)
c.4936G>A (p.Val1646Ile)
c.4810G>A (p.Val1604Ile)
c.4930G>A (p.Val1644Ile)
c.4858G>A (p.Val1620Ile)
c.1624G>A (p.Val542Ile)
c.1486G>A (p.Val496Ile)
c.4048G>A (p.Val1350Ile)
c.4813G>A (p.Val1605Ile)
c.5002G>A (p.Val1668Ile)
c.4795G>A (p.Val1599Ile)
c.1498G>A (p.Val500Ile)
c.1543G>A (p.Val515Ile)
c.4999G>A (p.Val1667Ile)
c.1323G>A
c.1510G>A (p.Val504Ile)
c.*4719G>A (n.*4719G>A)
n.89G>A
c.1249G>A (p.Val417Ile)
c.5-7027G>A (n.5-7027G>A)
c.409G>A (p.Val137Ile)
c.-98-20788G>A (n.-98-20788G>A)
n.5072G>A
n.5113G>A
 ClinVar dbSNP gnomAD v4
17g.43070980dupCA2695195948BRCA1c.4933dup (p.Val1645GlyfsTer?)
c.4936dup (p.Val1646GlyfsTer?)
c.4810dup (p.Val1604GlyfsTer?)
c.4930dup (p.Val1644GlyfsTer?)
c.4858dup (p.Val1620GlyfsTer?)
c.1624dup (p.Val542GlyfsTer?)
c.1486dup (p.Val496GlyfsTer?)
c.4048dup (p.Val1350GlyfsTer?)
c.4813dup (p.Val1605GlyfsTer?)
c.5002dup (p.Val1668GlyfsTer?)
c.4795dup (p.Val1599GlyfsTer?)
c.1498dup (p.Val500GlyfsTer?)
c.1543dup (p.Val515GlyfsTer29)
c.4999dup (p.Val1667GlyfsTer?)
c.1323dup
c.1510dup (p.Val504GlyfsTer?)
c.*4719dup (n.*4719dup)
n.89dup
c.1249dup (p.Val417GlyfsTer?)
c.5-7027dup (n.5-7027dup)
c.409dup (p.Val137GlyfsTer?)
c.-98-20788dup (n.-98-20788dup)
n.5072dup
n.5113dup
17g.43070980delCA003086BRCA1c.4933del (p.Val1645SerfsTer12)
c.4936del (p.Val1646SerfsTer12)
c.4810del (p.Val1604SerfsTer12)
c.4930del (p.Val1644SerfsTer12)
c.4858del (p.Val1620SerfsTer12)
c.1624del (p.Val542SerfsTer12)
c.1486del (p.Val496SerfsTer12)
c.4048del (p.Val1350SerfsTer12)
c.4813del (p.Val1605SerfsTer12)
c.5002del (p.Val1668SerfsTer12)
c.4795del (p.Val1599SerfsTer12)
c.1498del (p.Val500SerfsTer12)
c.1543del (p.Val515SerfsTer12)
c.4999del (p.Val1667SerfsTer12)
c.1323del
c.1510del (p.Val504SerfsTer12)
c.*4719del (n.*4719del)
n.89del
c.1249del (p.Val417SerfsTer12)
c.5-7027del (n.5-7027del)
c.409del (p.Val137SerfsTer12)
c.-98-20788del (n.-98-20788del)
n.5072del
n.5113del
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43070978_43070979insTTCA658825002BRCA1c.4932_4933insAA (p.Val1645LysfsTer13)
c.4935_4936insAA (p.Val1646LysfsTer13)
c.4809_4810insAA (p.Val1604LysfsTer13)
c.4929_4930insAA (p.Val1644LysfsTer13)
c.4857_4858insAA (p.Val1620LysfsTer13)
c.1623_1624insAA (p.Val542LysfsTer13)
c.1485_1486insAA (p.Val496LysfsTer13)
c.4047_4048insAA (p.Val1350LysfsTer13)
c.4812_4813insAA (p.Val1605LysfsTer13)
c.5001_5002insAA (p.Val1668LysfsTer13)
c.4794_4795insAA (p.Val1599LysfsTer13)
c.1497_1498insAA (p.Val500LysfsTer13)
c.1542_1543insAA (p.Val515LysfsTer13)
c.4998_4999insAA (p.Val1667LysfsTer13)
c.1322_1323insAA
c.1509_1510insAA (p.Val504LysfsTer13)
c.*4718_*4719insAA (n.*4718_*4719insAA)
n.88_89insAA
c.1248_1249insAA (p.Val417LysfsTer13)
c.5-7028_5-7027insAA (n.5-7028_5-7027insAA)
c.408_409insAA (p.Val137LysfsTer13)
c.-98-20789_-98-20788insAA (n.-98-20789_-98-20788insAA)
n.5071_5072insAA
n.5112_5113insAA
 ClinVar dbSNP
17g.43070979C>ACA10591655BRCA1c.4932G>T (p.Arg1644Ser)
c.4935G>T (p.Arg1645Ser)
c.4809G>T (p.Arg1603Ser)
c.4929G>T (p.Arg1643Ser)
c.4857G>T (p.Arg1619Ser)
c.1623G>T (p.Arg541Ser)
c.1485G>T (p.Arg495Ser)
c.4047G>T (p.Arg1349Ser)
c.4812G>T (p.Arg1604Ser)
c.5001G>T (p.Arg1667Ser)
c.4794G>T (p.Arg1598Ser)
c.1497G>T (p.Arg499Ser)
c.1542G>T (p.Arg514Ser)
c.4998G>T (p.Arg1666Ser)
c.1322G>T
c.1509G>T (p.Arg503Ser)
c.*4718G>T (n.*4718G>T)
n.88G>T
c.1248G>T (p.Arg416Ser)
c.5-7028G>T (n.5-7028G>T)
c.408G>T (p.Arg136Ser)
c.-98-20789G>T (n.-98-20789G>T)
n.5071G>T
n.5112G>T
 ClinVar dbSNP
17g.43070979C=CA2260772795BRCA1c.4932G= (p.Arg1644=)
c.4935G= (p.Arg1645=)
c.4809G= (p.Arg1603=)
c.4929G= (p.Arg1643=)
c.4857G= (p.Arg1619=)
c.1623G= (p.Arg541=)
c.1485G= (p.Arg495=)
c.4047G= (p.Arg1349=)
c.4812G= (p.Arg1604=)
c.5001G= (p.Arg1667=)
c.4794G= (p.Arg1598=)
c.1497G= (p.Arg499=)
c.1542G= (p.Arg514=)
c.4998G= (p.Arg1666=)
c.1322G=
c.1509G= (p.Arg503=)
c.*4718G= (n.*4718G=)
n.88G=
c.1248G= (p.Arg416=)
c.5-7028G= (n.5-7028G=)
c.408G= (p.Arg136=)
c.-98-20789G= (n.-98-20789G=)
n.5071G=
n.5112G=
17g.43070979C>GCA003089BRCA1c.4932G>C (p.Arg1644Ser)
c.4935G>C (p.Arg1645Ser)
c.4809G>C (p.Arg1603Ser)
c.4929G>C (p.Arg1643Ser)
c.4857G>C (p.Arg1619Ser)
c.1623G>C (p.Arg541Ser)
c.1485G>C (p.Arg495Ser)
c.4047G>C (p.Arg1349Ser)
c.4812G>C (p.Arg1604Ser)
c.5001G>C (p.Arg1667Ser)
c.4794G>C (p.Arg1598Ser)
c.1497G>C (p.Arg499Ser)
c.1542G>C (p.Arg514Ser)
c.4998G>C (p.Arg1666Ser)
c.1322G>C
c.1509G>C (p.Arg503Ser)
c.*4718G>C (n.*4718G>C)
n.88G>C
c.1248G>C (p.Arg416Ser)
c.5-7028G>C (n.5-7028G>C)
c.408G>C (p.Arg136Ser)
c.-98-20789G>C (n.-98-20789G>C)
n.5071G>C
n.5112G>C
 ClinVar dbSNP gnomAD v4
17g.43070979C>TCA500231627BRCA1c.4932G>A (p.Arg1644=)
c.4935G>A (p.Arg1645=)
c.4809G>A (p.Arg1603=)
c.4929G>A (p.Arg1643=)
c.4857G>A (p.Arg1619=)
c.1623G>A (p.Arg541=)
c.1485G>A (p.Arg495=)
c.4047G>A (p.Arg1349=)
c.4812G>A (p.Arg1604=)
c.5001G>A (p.Arg1667=)
c.4794G>A (p.Arg1598=)
c.1497G>A (p.Arg499=)
c.1542G>A (p.Arg514=)
c.4998G>A (p.Arg1666=)
c.1322G>A
c.1509G>A (p.Arg503=)
c.*4718G>A (n.*4718G>A)
n.88G>A
c.1248G>A (p.Arg416=)
c.5-7028G>A (n.5-7028G>A)
c.408G>A (p.Arg136=)
c.-98-20789G>A (n.-98-20789G>A)
n.5071G>A
n.5112G>A
 ClinVar dbSNP
17g.43070979_43070980insTTGTCCA2733912913BRCA1c.4932_4933insACAAG (p.Val1645ThrfsTer14)
c.4935_4936insACAAG (p.Val1646ThrfsTer14)
c.4809_4810insACAAG (p.Val1604ThrfsTer14)
c.4929_4930insACAAG (p.Val1644ThrfsTer14)
c.4857_4858insACAAG (p.Val1620ThrfsTer14)
c.1623_1624insACAAG (p.Val542ThrfsTer14)
c.1485_1486insACAAG (p.Val496ThrfsTer14)
c.4047_4048insACAAG (p.Val1350ThrfsTer14)
c.4812_4813insACAAG (p.Val1605ThrfsTer14)
c.5001_5002insACAAG (p.Val1668ThrfsTer14)
c.4794_4795insACAAG (p.Val1599ThrfsTer14)
c.1497_1498insACAAG (p.Val500ThrfsTer14)
c.1542_1543insACAAG (p.Val515ThrfsTer14)
c.4998_4999insACAAG (p.Val1667ThrfsTer14)
c.1322_1323insACAAG
c.1509_1510insACAAG (p.Val504ThrfsTer14)
c.*4718_*4719insACAAG (n.*4718_*4719insACAAG)
n.88_89insACAAG
c.1248_1249insACAAG (p.Val417ThrfsTer14)
c.5-7028_5-7027insACAAG (n.5-7028_5-7027insACAAG)
c.408_409insACAAG (p.Val137ThrfsTer14)
c.-98-20789_-98-20788insACAAG (n.-98-20789_-98-20788insACAAG)
n.5071_5072insACAAG
n.5112_5113insACAAG
 dbSNP
17g.43070979_43070980insTTCA645373140BRCA1c.4931_4932insAA (p.Val1645ArgfsTer13)
c.4934_4935insAA (p.Val1646ArgfsTer13)
c.4808_4809insAA (p.Val1604ArgfsTer13)
c.4928_4929insAA (p.Val1644ArgfsTer13)
c.4856_4857insAA (p.Val1620ArgfsTer13)
c.1622_1623insAA (p.Val542ArgfsTer13)
c.1484_1485insAA (p.Val496ArgfsTer13)
c.4046_4047insAA (p.Val1350ArgfsTer13)
c.4811_4812insAA (p.Val1605ArgfsTer13)
c.5000_5001insAA (p.Val1668ArgfsTer13)
c.4793_4794insAA (p.Val1599ArgfsTer13)
c.1496_1497insAA (p.Val500ArgfsTer13)
c.1541_1542insAA (p.Val515ArgfsTer13)
c.4997_4998insAA (p.Val1667ArgfsTer13)
c.1321_1322insAA
c.1508_1509insAA (p.Val504ArgfsTer13)
c.*4717_*4718insAA (n.*4717_*4718insAA)
n.87_88insAA
c.1247_1248insAA (p.Val417ArgfsTer13)
c.5-7029_5-7028insAA (n.5-7029_5-7028insAA)
c.407_408insAA (p.Val137ArgfsTer13)
c.-98-20790_-98-20789insAA (n.-98-20790_-98-20789insAA)
n.5070_5071insAA
n.5111_5112insAA
 ClinVar dbSNP
17g.43070980C>ACA003088BRCA1c.4931G>T (p.Arg1644Met)
c.4934G>T (p.Arg1645Met)
c.4808G>T (p.Arg1603Met)
c.4928G>T (p.Arg1643Met)
c.4856G>T (p.Arg1619Met)
c.1622G>T (p.Arg541Met)
c.1484G>T (p.Arg495Met)
c.4046G>T (p.Arg1349Met)
c.4811G>T (p.Arg1604Met)
c.5000G>T (p.Arg1667Met)
c.4793G>T (p.Arg1598Met)
c.1496G>T (p.Arg499Met)
c.1541G>T (p.Arg514Met)
c.4997G>T (p.Arg1666Met)
c.1321G>T
c.1508G>T (p.Arg503Met)
c.*4717G>T (n.*4717G>T)
n.87G>T
c.1247G>T (p.Arg416Met)
c.5-7029G>T (n.5-7029G>T)
c.407G>T (p.Arg136Met)
c.-98-20790G>T (n.-98-20790G>T)
n.5070G>T
n.5111G>T
 ClinVar dbSNP
17g.43070980C=CA2260772796BRCA1c.4931G= (p.Arg1644=)
c.4934G= (p.Arg1645=)
c.4808G= (p.Arg1603=)
c.4928G= (p.Arg1643=)
c.4856G= (p.Arg1619=)
c.1622G= (p.Arg541=)
c.1484G= (p.Arg495=)
c.4046G= (p.Arg1349=)
c.4811G= (p.Arg1604=)
c.5000G= (p.Arg1667=)
c.4793G= (p.Arg1598=)
c.1496G= (p.Arg499=)
c.1541G= (p.Arg514=)
c.4997G= (p.Arg1666=)
c.1321G=
c.1508G= (p.Arg503=)
c.*4717G= (n.*4717G=)
n.87G=
c.1247G= (p.Arg416=)
c.5-7029G= (n.5-7029G=)
c.407G= (p.Arg136=)
c.-98-20790G= (n.-98-20790G=)
n.5070G=
n.5111G=
17g.43070980C>GCA003087BRCA1c.4931G>C (p.Arg1644Thr)
c.4934G>C (p.Arg1645Thr)
c.4808G>C (p.Arg1603Thr)
c.4928G>C (p.Arg1643Thr)
c.4856G>C (p.Arg1619Thr)
c.1622G>C (p.Arg541Thr)
c.1484G>C (p.Arg495Thr)
c.4046G>C (p.Arg1349Thr)
c.4811G>C (p.Arg1604Thr)
c.5000G>C (p.Arg1667Thr)
c.4793G>C (p.Arg1598Thr)
c.1496G>C (p.Arg499Thr)
c.1541G>C (p.Arg514Thr)
c.4997G>C (p.Arg1666Thr)
c.1321G>C
c.1508G>C (p.Arg503Thr)
c.*4717G>C (n.*4717G>C)
n.87G>C
c.1247G>C (p.Arg416Thr)
c.5-7029G>C (n.5-7029G>C)
c.407G>C (p.Arg136Thr)
c.-98-20790G>C (n.-98-20790G>C)
n.5070G>C
n.5111G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43070980C>TCA10591656BRCA1c.4931G>A (p.Arg1644Lys)
c.4934G>A (p.Arg1645Lys)
c.4808G>A (p.Arg1603Lys)
c.4928G>A (p.Arg1643Lys)
c.4856G>A (p.Arg1619Lys)
c.1622G>A (p.Arg541Lys)
c.1484G>A (p.Arg495Lys)
c.4046G>A (p.Arg1349Lys)
c.4811G>A (p.Arg1604Lys)
c.5000G>A (p.Arg1667Lys)
c.4793G>A (p.Arg1598Lys)
c.1496G>A (p.Arg499Lys)
c.1541G>A (p.Arg514Lys)
c.4997G>A (p.Arg1666Lys)
c.1321G>A
c.1508G>A (p.Arg503Lys)
c.*4717G>A (n.*4717G>A)
n.87G>A
c.1247G>A (p.Arg416Lys)
c.5-7029G>A (n.5-7029G>A)
c.407G>A (p.Arg136Lys)
c.-98-20790G>A (n.-98-20790G>A)
n.5070G>A
n.5111G>A
 ClinVar dbSNP
17g.43070981T>ACA10591657BRCA1c.4930A>T (p.Arg1644Trp)
c.4933A>T (p.Arg1645Trp)
c.4807A>T (p.Arg1603Trp)
c.4927A>T (p.Arg1643Trp)
c.4855A>T (p.Arg1619Trp)
c.1621A>T (p.Arg541Trp)
c.1483A>T (p.Arg495Trp)
c.4045A>T (p.Arg1349Trp)
c.4810A>T (p.Arg1604Trp)
c.4999A>T (p.Arg1667Trp)
c.4792A>T (p.Arg1598Trp)
c.1495A>T (p.Arg499Trp)
c.1540A>T (p.Arg514Trp)
c.4996A>T (p.Arg1666Trp)
c.1320A>T
c.1507A>T (p.Arg503Trp)
c.*4716A>T (n.*4716A>T)
n.86A>T
c.1246A>T (p.Arg416Trp)
c.5-7030A>T (n.5-7030A>T)
c.406A>T (p.Arg136Trp)
c.-98-20791A>T (n.-98-20791A>T)
n.5069A>T
n.5110A>T
 ClinVar dbSNP
17g.43070981T>CCA003084BRCA1c.4930A>G (p.Arg1644Gly)
c.4933A>G (p.Arg1645Gly)
c.4807A>G (p.Arg1603Gly)
c.4927A>G (p.Arg1643Gly)
c.4855A>G (p.Arg1619Gly)
c.1621A>G (p.Arg541Gly)
c.1483A>G (p.Arg495Gly)
c.4045A>G (p.Arg1349Gly)
c.4810A>G (p.Arg1604Gly)
c.4999A>G (p.Arg1667Gly)
c.4792A>G (p.Arg1598Gly)
c.1495A>G (p.Arg499Gly)
c.1540A>G (p.Arg514Gly)
c.4996A>G (p.Arg1666Gly)
c.1320A>G
c.1507A>G (p.Arg503Gly)
c.*4716A>G (n.*4716A>G)
n.86A>G
c.1246A>G (p.Arg416Gly)
c.5-7030A>G (n.5-7030A>G)
c.406A>G (p.Arg136Gly)
c.-98-20791A>G (n.-98-20791A>G)
n.5069A>G
n.5110A>G
 ClinVar dbSNP
17g.43070981T>GCA500231628BRCA1c.4930A>C (p.Arg1644=)
c.4933A>C (p.Arg1645=)
c.4807A>C (p.Arg1603=)
c.4927A>C (p.Arg1643=)
c.4855A>C (p.Arg1619=)
c.1621A>C (p.Arg541=)
c.1483A>C (p.Arg495=)
c.4045A>C (p.Arg1349=)
c.4810A>C (p.Arg1604=)
c.4999A>C (p.Arg1667=)
c.4792A>C (p.Arg1598=)
c.1495A>C (p.Arg499=)
c.1540A>C (p.Arg514=)
c.4996A>C (p.Arg1666=)
c.1320A>C
c.1507A>C (p.Arg503=)
c.*4716A>C (n.*4716A>C)
n.86A>C
c.1246A>C (p.Arg416=)
c.5-7030A>C (n.5-7030A>C)
c.406A>C (p.Arg136=)
c.-98-20791A>C (n.-98-20791A>C)
n.5069A>C
n.5110A>C
 ClinVar dbSNP
17g.43070981T=CA2260772797BRCA1c.4930A= (p.Arg1644=)
c.4933A= (p.Arg1645=)
c.4807A= (p.Arg1603=)
c.4927A= (p.Arg1643=)
c.4855A= (p.Arg1619=)
c.1621A= (p.Arg541=)
c.1483A= (p.Arg495=)
c.4045A= (p.Arg1349=)
c.4810A= (p.Arg1604=)
c.4999A= (p.Arg1667=)
c.4792A= (p.Arg1598=)
c.1495A= (p.Arg499=)
c.1540A= (p.Arg514=)
c.4996A= (p.Arg1666=)
c.1320A=
c.1507A= (p.Arg503=)
c.*4716A= (n.*4716A=)
n.86A=
c.1246A= (p.Arg416=)
c.5-7030A= (n.5-7030A=)
c.406A= (p.Arg136=)
c.-98-20791A= (n.-98-20791A=)
n.5069A=
n.5110A=
17g.43070982_43070983dupCA003083BRCA1c.4929_4930dup (p.Arg1644LysfsTer14)
c.4932_4933dup (p.Arg1645LysfsTer14)
c.4806_4807dup (p.Arg1603LysfsTer14)
c.4926_4927dup (p.Arg1643LysfsTer14)
c.4854_4855dup (p.Arg1619LysfsTer14)
c.1620_1621dup (p.Arg541LysfsTer14)
c.1482_1483dup (p.Arg495LysfsTer14)
c.4044_4045dup (p.Arg1349LysfsTer14)
c.4809_4810dup (p.Arg1604LysfsTer14)
c.4998_4999dup (p.Arg1667LysfsTer14)
c.4791_4792dup (p.Arg1598LysfsTer14)
c.1494_1495dup (p.Arg499LysfsTer14)
c.1539_1540dup (p.Arg514LysfsTer14)
c.4995_4996dup (p.Arg1666LysfsTer14)
c.1319_1320dup
c.1506_1507dup (p.Arg503LysfsTer14)
c.*4715_*4716dup (n.*4715_*4716dup)
n.85_86dup
c.1245_1246dup (p.Arg416LysfsTer14)
c.5-7031_5-7030dup (n.5-7031_5-7030dup)
c.405_406dup (p.Arg136LysfsTer14)
c.-98-20792_-98-20791dup (n.-98-20792_-98-20791dup)
n.5068_5069dup
n.5109_5110dup
 ClinVar dbSNP
17g.43070983delCA1139768351BRCA1c.4930del (p.Arg1644GlyfsTer13)
c.4933del (p.Arg1645GlyfsTer13)
c.4807del (p.Arg1603GlyfsTer13)
c.4927del (p.Arg1643GlyfsTer13)
c.4855del (p.Arg1619GlyfsTer13)
c.1621del (p.Arg541GlyfsTer13)
c.1483del (p.Arg495GlyfsTer13)
c.4045del (p.Arg1349GlyfsTer13)
c.4810del (p.Arg1604GlyfsTer13)
c.4999del (p.Arg1667GlyfsTer13)
c.4792del (p.Arg1598GlyfsTer13)
c.1495del (p.Arg499GlyfsTer13)
c.1540del (p.Arg514GlyfsTer13)
c.4996del (p.Arg1666GlyfsTer13)
c.1320del
c.1507del (p.Arg503GlyfsTer13)
c.*4716del (n.*4716del)
n.86del
c.1246del (p.Arg416GlyfsTer13)
c.5-7030del (n.5-7030del)
c.406del (p.Arg136GlyfsTer13)
c.-98-20791del (n.-98-20791del)
n.5069del
n.5110del
 ClinVar dbSNP
17g.43070982T>ACA10591658BRCA1c.4929A>T (p.Glu1643Asp)
c.4932A>T (p.Glu1644Asp)
c.4806A>T (p.Glu1602Asp)
c.4926A>T (p.Glu1642Asp)
c.4854A>T (p.Glu1618Asp)
c.1620A>T (p.Glu540Asp)
c.1482A>T (p.Glu494Asp)
c.4044A>T (p.Glu1348Asp)
c.4809A>T (p.Glu1603Asp)
c.4998A>T (p.Glu1666Asp)
c.4791A>T (p.Glu1597Asp)
c.1494A>T (p.Glu498Asp)
c.1539A>T (p.Glu513Asp)
c.4995A>T (p.Glu1665Asp)
c.1319A>T
c.1506A>T (p.Glu502Asp)
c.*4715A>T (n.*4715A>T)
n.85A>T
c.1245A>T (p.Glu415Asp)
c.5-7031A>T (n.5-7031A>T)
c.405A>T (p.Glu135Asp)
c.-98-20792A>T (n.-98-20792A>T)
n.5068A>T
n.5109A>T
 ClinVar dbSNP
17g.43070982T>CCA500231630BRCA1c.4929A>G (p.Glu1643=)
c.4932A>G (p.Glu1644=)
c.4806A>G (p.Glu1602=)
c.4926A>G (p.Glu1642=)
c.4854A>G (p.Glu1618=)
c.1620A>G (p.Glu540=)
c.1482A>G (p.Glu494=)
c.4044A>G (p.Glu1348=)
c.4809A>G (p.Glu1603=)
c.4998A>G (p.Glu1666=)
c.4791A>G (p.Glu1597=)
c.1494A>G (p.Glu498=)
c.1539A>G (p.Glu513=)
c.4995A>G (p.Glu1665=)
c.1319A>G
c.1506A>G (p.Glu502=)
c.*4715A>G (n.*4715A>G)
n.85A>G
c.1245A>G (p.Glu415=)
c.5-7031A>G (n.5-7031A>G)
c.405A>G (p.Glu135=)
c.-98-20792A>G (n.-98-20792A>G)
n.5068A>G
n.5109A>G
 ClinVar dbSNP
17g.43070982T>GCA10591659BRCA1c.4929A>C (p.Glu1643Asp)
c.4932A>C (p.Glu1644Asp)
c.4806A>C (p.Glu1602Asp)
c.4926A>C (p.Glu1642Asp)
c.4854A>C (p.Glu1618Asp)
c.1620A>C (p.Glu540Asp)
c.1482A>C (p.Glu494Asp)
c.4044A>C (p.Glu1348Asp)
c.4809A>C (p.Glu1603Asp)
c.4998A>C (p.Glu1666Asp)
c.4791A>C (p.Glu1597Asp)
c.1494A>C (p.Glu498Asp)
c.1539A>C (p.Glu513Asp)
c.4995A>C (p.Glu1665Asp)
c.1319A>C
c.1506A>C (p.Glu502Asp)
c.*4715A>C (n.*4715A>C)
n.85A>C
c.1245A>C (p.Glu415Asp)
c.5-7031A>C (n.5-7031A>C)
c.405A>C (p.Glu135Asp)
c.-98-20792A>C (n.-98-20792A>C)
n.5068A>C
n.5109A>C
 ClinVar dbSNP
17g.43070982T=CA2260772799BRCA1c.4929A= (p.Glu1643=)
c.4932A= (p.Glu1644=)
c.4806A= (p.Glu1602=)
c.4926A= (p.Glu1642=)
c.4854A= (p.Glu1618=)
c.1620A= (p.Glu540=)
c.1482A= (p.Glu494=)
c.4044A= (p.Glu1348=)
c.4809A= (p.Glu1603=)
c.4998A= (p.Glu1666=)
c.4791A= (p.Glu1597=)
c.1494A= (p.Glu498=)
c.1539A= (p.Glu513=)
c.4995A= (p.Glu1665=)
c.1319A=
c.1506A= (p.Glu502=)
c.*4715A= (n.*4715A=)
n.85A=
c.1245A= (p.Glu415=)
c.5-7031A= (n.5-7031A=)
c.405A= (p.Glu135=)
c.-98-20792A= (n.-98-20792A=)
n.5068A=
n.5109A=
17g.43070982_43070984delinsTTCCA2260772798BRCA1c.4927_4929delinsGAA (p.Glu1643=)
c.4930_4932delinsGAA (p.Glu1644=)
c.4804_4806delinsGAA (p.Glu1602=)
c.4924_4926delinsGAA (p.Glu1642=)
c.4852_4854delinsGAA (p.Glu1618=)
c.1618_1620delinsGAA (p.Glu540=)
c.1480_1482delinsGAA (p.Glu494=)
c.4042_4044delinsGAA (p.Glu1348=)
c.4807_4809delinsGAA (p.Glu1603=)
c.4996_4998delinsGAA (p.Glu1666=)
c.4789_4791delinsGAA (p.Glu1597=)
c.1492_1494delinsGAA (p.Glu498=)
c.1537_1539delinsGAA (p.Glu513=)
c.4993_4995delinsGAA (p.Glu1665=)
c.1317_1319delinsGAA
c.1504_1506delinsGAA (p.Glu502=)
c.*4713_*4715delinsGAA (n.*4713_*4715delinsGAA)
n.83_85delinsGAA
c.1243_1245delinsGAA (p.Glu415=)
c.5-7033_5-7031delinsGAA (n.5-7033_5-7031delinsGAA)
c.403_405delinsGAA (p.Glu135=)
c.-98-20794_-98-20792delinsGAA (n.-98-20794_-98-20792delinsGAA)
n.5066_5068delinsGAA
n.5107_5109delinsGAA
17g.43070983T>ACA10591660BRCA1c.4928A>T (p.Glu1643Val)
c.4931A>T (p.Glu1644Val)
c.4805A>T (p.Glu1602Val)
c.4925A>T (p.Glu1642Val)
c.4853A>T (p.Glu1618Val)
c.1619A>T (p.Glu540Val)
c.1481A>T (p.Glu494Val)
c.4043A>T (p.Glu1348Val)
c.4808A>T (p.Glu1603Val)
c.4997A>T (p.Glu1666Val)
c.4790A>T (p.Glu1597Val)
c.1493A>T (p.Glu498Val)
c.1538A>T (p.Glu513Val)
c.4994A>T (p.Glu1665Val)
c.1318A>T
c.1505A>T (p.Glu502Val)
c.*4714A>T (n.*4714A>T)
n.84A>T
c.1244A>T (p.Glu415Val)
c.5-7032A>T (n.5-7032A>T)
c.404A>T (p.Glu135Val)
c.-98-20793A>T (n.-98-20793A>T)
n.5067A>T
n.5108A>T
 ClinVar dbSNP
17g.43070983T>CCA003082BRCA1c.4928A>G (p.Glu1643Gly)
c.4931A>G (p.Glu1644Gly)
c.4805A>G (p.Glu1602Gly)
c.4925A>G (p.Glu1642Gly)
c.4853A>G (p.Glu1618Gly)
c.1619A>G (p.Glu540Gly)
c.1481A>G (p.Glu494Gly)
c.4043A>G (p.Glu1348Gly)
c.4808A>G (p.Glu1603Gly)
c.4997A>G (p.Glu1666Gly)
c.4790A>G (p.Glu1597Gly)
c.1493A>G (p.Glu498Gly)
c.1538A>G (p.Glu513Gly)
c.4994A>G (p.Glu1665Gly)
c.1318A>G
c.1505A>G (p.Glu502Gly)
c.*4714A>G (n.*4714A>G)
n.84A>G
c.1244A>G (p.Glu415Gly)
c.5-7032A>G (n.5-7032A>G)
c.404A>G (p.Glu135Gly)
c.-98-20793A>G (n.-98-20793A>G)
n.5067A>G
n.5108A>G
 ClinVar dbSNP gnomAD v4
17g.43070983T>GCA10591661BRCA1c.4928A>C (p.Glu1643Ala)
c.4931A>C (p.Glu1644Ala)
c.4805A>C (p.Glu1602Ala)
c.4925A>C (p.Glu1642Ala)
c.4853A>C (p.Glu1618Ala)
c.1619A>C (p.Glu540Ala)
c.1481A>C (p.Glu494Ala)
c.4043A>C (p.Glu1348Ala)
c.4808A>C (p.Glu1603Ala)
c.4997A>C (p.Glu1666Ala)
c.4790A>C (p.Glu1597Ala)
c.1493A>C (p.Glu498Ala)
c.1538A>C (p.Glu513Ala)
c.4994A>C (p.Glu1665Ala)
c.1318A>C
c.1505A>C (p.Glu502Ala)
c.*4714A>C (n.*4714A>C)
n.84A>C
c.1244A>C (p.Glu415Ala)
c.5-7032A>C (n.5-7032A>C)
c.404A>C (p.Glu135Ala)
c.-98-20793A>C (n.-98-20793A>C)
n.5067A>C
n.5108A>C
 ClinVar dbSNP
17g.43070983T=CA2260772800BRCA1c.4928A= (p.Glu1643=)
c.4931A= (p.Glu1644=)
c.4805A= (p.Glu1602=)
c.4925A= (p.Glu1642=)
c.4853A= (p.Glu1618=)
c.1619A= (p.Glu540=)
c.1481A= (p.Glu494=)
c.4043A= (p.Glu1348=)
c.4808A= (p.Glu1603=)
c.4997A= (p.Glu1666=)
c.4790A= (p.Glu1597=)
c.1493A= (p.Glu498=)
c.1538A= (p.Glu513=)
c.4994A= (p.Glu1665=)
c.1318A=
c.1505A= (p.Glu502=)
c.*4714A= (n.*4714A=)
n.84A=
c.1244A= (p.Glu415=)
c.5-7032A= (n.5-7032A=)
c.404A= (p.Glu135=)
c.-98-20793A= (n.-98-20793A=)
n.5067A=
n.5108A=
17g.43070984_43070985delCA919844185BRCA1c.4927_4928del (p.Glu1643LysfsTer?)
c.4930_4931del (p.Glu1644LysfsTer?)
c.4804_4805del (p.Glu1602LysfsTer?)
c.4924_4925del (p.Glu1642LysfsTer?)
c.4852_4853del (p.Glu1618LysfsTer?)
c.1618_1619del (p.Glu540LysfsTer?)
c.1480_1481del (p.Glu494LysfsTer?)
c.4042_4043del (p.Glu1348LysfsTer?)
c.4807_4808del (p.Glu1603LysfsTer?)
c.4996_4997del (p.Glu1666LysfsTer?)
c.4789_4790del (p.Glu1597LysfsTer?)
c.1492_1493del (p.Glu498LysfsTer?)
c.1537_1538del (p.Glu513LysfsTer30)
c.4993_4994del (p.Glu1665LysfsTer?)
c.1317_1318del
c.1504_1505del (p.Glu502LysfsTer?)
c.*4713_*4714del (n.*4713_*4714del)
n.83_84del
c.1243_1244del (p.Glu415LysfsTer?)
c.5-7033_5-7032del (n.5-7033_5-7032del)
c.403_404del (p.Glu135LysfsTer?)
c.-98-20794_-98-20793del (n.-98-20794_-98-20793del)
n.5066_5067del
n.5107_5108del
 dbSNP
17g.43070984C>ACA003081BRCA1c.4927G>T (p.Glu1643Ter)
c.4930G>T (p.Glu1644Ter)
c.4804G>T (p.Glu1602Ter)
c.4924G>T (p.Glu1642Ter)
c.4852G>T (p.Glu1618Ter)
c.1618G>T (p.Glu540Ter)
c.1480G>T (p.Glu494Ter)
c.4042G>T (p.Glu1348Ter)
c.4807G>T (p.Glu1603Ter)
c.4996G>T (p.Glu1666Ter)
c.4789G>T (p.Glu1597Ter)
c.1492G>T (p.Glu498Ter)
c.1537G>T (p.Glu513Ter)
c.4993G>T (p.Glu1665Ter)
c.1317G>T
c.1504G>T (p.Glu502Ter)
c.*4713G>T (n.*4713G>T)
n.83G>T
c.1243G>T (p.Glu415Ter)
c.5-7033G>T (n.5-7033G>T)
c.403G>T (p.Glu135Ter)
c.-98-20794G>T (n.-98-20794G>T)
n.5066G>T
n.5107G>T
 ClinVar dbSNP COSMIC
17g.43070984C=CA2260772801BRCA1c.4927G= (p.Glu1643=)
c.4930G= (p.Glu1644=)
c.4804G= (p.Glu1602=)
c.4924G= (p.Glu1642=)
c.4852G= (p.Glu1618=)
c.1618G= (p.Glu540=)
c.1480G= (p.Glu494=)
c.4042G= (p.Glu1348=)
c.4807G= (p.Glu1603=)
c.4996G= (p.Glu1666=)
c.4789G= (p.Glu1597=)
c.1492G= (p.Glu498=)
c.1537G= (p.Glu513=)
c.4993G= (p.Glu1665=)
c.1317G=
c.1504G= (p.Glu502=)
c.*4713G= (n.*4713G=)
n.83G=
c.1243G= (p.Glu415=)
c.5-7033G= (n.5-7033G=)
c.403G= (p.Glu135=)
c.-98-20794G= (n.-98-20794G=)
n.5066G=
n.5107G=
17g.43070984C>GCA10591662BRCA1c.4927G>C (p.Glu1643Gln)
c.4930G>C (p.Glu1644Gln)
c.4804G>C (p.Glu1602Gln)
c.4924G>C (p.Glu1642Gln)
c.4852G>C (p.Glu1618Gln)
c.1618G>C (p.Glu540Gln)
c.1480G>C (p.Glu494Gln)
c.4042G>C (p.Glu1348Gln)
c.4807G>C (p.Glu1603Gln)
c.4996G>C (p.Glu1666Gln)
c.4789G>C (p.Glu1597Gln)
c.1492G>C (p.Glu498Gln)
c.1537G>C (p.Glu513Gln)
c.4993G>C (p.Glu1665Gln)
c.1317G>C
c.1504G>C (p.Glu502Gln)
c.*4713G>C (n.*4713G>C)
n.83G>C
c.1243G>C (p.Glu415Gln)
c.5-7033G>C (n.5-7033G>C)
c.403G>C (p.Glu135Gln)
c.-98-20794G>C (n.-98-20794G>C)
n.5066G>C
n.5107G>C
 ClinVar dbSNP
17g.43070984C>TCA10591663BRCA1c.4927G>A (p.Glu1643Lys)
c.4930G>A (p.Glu1644Lys)
c.4804G>A (p.Glu1602Lys)
c.4924G>A (p.Glu1642Lys)
c.4852G>A (p.Glu1618Lys)
c.1618G>A (p.Glu540Lys)
c.1480G>A (p.Glu494Lys)
c.4042G>A (p.Glu1348Lys)
c.4807G>A (p.Glu1603Lys)
c.4996G>A (p.Glu1666Lys)
c.4789G>A (p.Glu1597Lys)
c.1492G>A (p.Glu498Lys)
c.1537G>A (p.Glu513Lys)
c.4993G>A (p.Glu1665Lys)
c.1317G>A
c.1504G>A (p.Glu502Lys)
c.*4713G>A (n.*4713G>A)
n.83G>A
c.1243G>A (p.Glu415Lys)
c.5-7033G>A (n.5-7033G>A)
c.403G>A (p.Glu135Lys)
c.-98-20794G>A (n.-98-20794G>A)
n.5066G>A
n.5107G>A
 ClinVar dbSNP gnomAD v4
17g.43070985delCA2580094006BRCA1c.4926del (p.Glu1643LysfsTer14)
c.4929del (p.Glu1644LysfsTer14)
c.4803del (p.Glu1602LysfsTer14)
c.4923del (p.Glu1642LysfsTer14)
c.4851del (p.Glu1618LysfsTer14)
c.1617del (p.Glu540LysfsTer14)
c.1479del (p.Glu494LysfsTer14)
c.4041del (p.Glu1348LysfsTer14)
c.4806del (p.Glu1603LysfsTer14)
c.4995del (p.Glu1666LysfsTer14)
c.4788del (p.Glu1597LysfsTer14)
c.1491del (p.Glu498LysfsTer14)
c.1536del (p.Glu513LysfsTer14)
c.4992del (p.Glu1665LysfsTer14)
c.1316del
c.1503del (p.Glu502LysfsTer14)
c.*4712del (n.*4712del)
n.82del
c.1242del (p.Glu415LysfsTer14)
c.5-7034del (n.5-7034del)
c.402del (p.Glu135LysfsTer14)
c.-98-20795del (n.-98-20795del)
n.5065del
n.5106del
 ClinVar
17g.43070985T>ACA500231637BRCA1c.4926A>T (p.Thr1642=)
c.4929A>T (p.Thr1643=)
c.4803A>T (p.Thr1601=)
c.4923A>T (p.Thr1641=)
c.4851A>T (p.Thr1617=)
c.1617A>T (p.Thr539=)
c.1479A>T (p.Thr493=)
c.4041A>T (p.Thr1347=)
c.4806A>T (p.Thr1602=)
c.4995A>T (p.Thr1665=)
c.4788A>T (p.Thr1596=)
c.1491A>T (p.Thr497=)
c.1536A>T (p.Thr512=)
c.4992A>T (p.Thr1664=)
c.1316A>T
c.1503A>T (p.Thr501=)
c.*4712A>T (n.*4712A>T)
n.82A>T
c.1242A>T (p.Thr414=)
c.5-7034A>T (n.5-7034A>T)
c.402A>T (p.Thr134=)
c.-98-20795A>T (n.-98-20795A>T)
n.5065A>T
n.5106A>T
 ClinVar dbSNP
17g.43070985T>CCA500231639BRCA1c.4926A>G (p.Thr1642=)
c.4929A>G (p.Thr1643=)
c.4803A>G (p.Thr1601=)
c.4923A>G (p.Thr1641=)
c.4851A>G (p.Thr1617=)
c.1617A>G (p.Thr539=)
c.1479A>G (p.Thr493=)
c.4041A>G (p.Thr1347=)
c.4806A>G (p.Thr1602=)
c.4995A>G (p.Thr1665=)
c.4788A>G (p.Thr1596=)
c.1491A>G (p.Thr497=)
c.1536A>G (p.Thr512=)
c.4992A>G (p.Thr1664=)
c.1316A>G
c.1503A>G (p.Thr501=)
c.*4712A>G (n.*4712A>G)
n.82A>G
c.1242A>G (p.Thr414=)
c.5-7034A>G (n.5-7034A>G)
c.402A>G (p.Thr134=)
c.-98-20795A>G (n.-98-20795A>G)
n.5065A>G
n.5106A>G
 ClinVar dbSNP
17g.43070985T>GCA003080BRCA1c.4926A>C (p.Thr1642=)
c.4929A>C (p.Thr1643=)
c.4803A>C (p.Thr1601=)
c.4923A>C (p.Thr1641=)
c.4851A>C (p.Thr1617=)
c.1617A>C (p.Thr539=)
c.1479A>C (p.Thr493=)
c.4041A>C (p.Thr1347=)
c.4806A>C (p.Thr1602=)
c.4995A>C (p.Thr1665=)
c.4788A>C (p.Thr1596=)
c.1491A>C (p.Thr497=)
c.1536A>C (p.Thr512=)
c.4992A>C (p.Thr1664=)
c.1316A>C
c.1503A>C (p.Thr501=)
c.*4712A>C (n.*4712A>C)
n.82A>C
c.1242A>C (p.Thr414=)
c.5-7034A>C (n.5-7034A>C)
c.402A>C (p.Thr134=)
c.-98-20795A>C (n.-98-20795A>C)
n.5065A>C
n.5106A>C
 ClinVar dbSNP
17g.43070985T=CA2260772802BRCA1c.4926A= (p.Thr1642=)
c.4929A= (p.Thr1643=)
c.4803A= (p.Thr1601=)
c.4923A= (p.Thr1641=)
c.4851A= (p.Thr1617=)
c.1617A= (p.Thr539=)
c.1479A= (p.Thr493=)
c.4041A= (p.Thr1347=)
c.4806A= (p.Thr1602=)
c.4995A= (p.Thr1665=)
c.4788A= (p.Thr1596=)
c.1491A= (p.Thr497=)
c.1536A= (p.Thr512=)
c.4992A= (p.Thr1664=)
c.1316A=
c.1503A= (p.Thr501=)
c.*4712A= (n.*4712A=)
n.82A=
c.1242A= (p.Thr414=)
c.5-7034A= (n.5-7034A=)
c.402A= (p.Thr134=)
c.-98-20795A= (n.-98-20795A=)
n.5065A=
n.5106A=
17g.43070986G>ACA10591664BRCA1c.4925C>T (p.Thr1642Ile)
c.4928C>T (p.Thr1643Ile)
c.4802C>T (p.Thr1601Ile)
c.4922C>T (p.Thr1641Ile)
c.4850C>T (p.Thr1617Ile)
c.1616C>T (p.Thr539Ile)
c.1478C>T (p.Thr493Ile)
c.4040C>T (p.Thr1347Ile)
c.4805C>T (p.Thr1602Ile)
c.4994C>T (p.Thr1665Ile)
c.4787C>T (p.Thr1596Ile)
c.1490C>T (p.Thr497Ile)
c.1535C>T (p.Thr512Ile)
c.4991C>T (p.Thr1664Ile)
c.1315C>T
c.1502C>T (p.Thr501Ile)
c.*4711C>T (n.*4711C>T)
n.81C>T
c.1241C>T (p.Thr414Ile)
c.5-7035C>T (n.5-7035C>T)
c.401C>T (p.Thr134Ile)
c.-98-20796C>T (n.-98-20796C>T)
n.5064C>T
n.5105C>T
 ClinVar dbSNP
17g.43070986G>CCA10591665BRCA1c.4925C>G (p.Thr1642Arg)
c.4928C>G (p.Thr1643Arg)
c.4802C>G (p.Thr1601Arg)
c.4922C>G (p.Thr1641Arg)
c.4850C>G (p.Thr1617Arg)
c.1616C>G (p.Thr539Arg)
c.1478C>G (p.Thr493Arg)
c.4040C>G (p.Thr1347Arg)
c.4805C>G (p.Thr1602Arg)
c.4994C>G (p.Thr1665Arg)
c.4787C>G (p.Thr1596Arg)
c.1490C>G (p.Thr497Arg)
c.1535C>G (p.Thr512Arg)
c.4991C>G (p.Thr1664Arg)
c.1315C>G
c.1502C>G (p.Thr501Arg)
c.*4711C>G (n.*4711C>G)
n.81C>G
c.1241C>G (p.Thr414Arg)
c.5-7035C>G (n.5-7035C>G)
c.401C>G (p.Thr134Arg)
c.-98-20796C>G (n.-98-20796C>G)
n.5064C>G
n.5105C>G
 ClinVar dbSNP
17g.43070986G=CA2260772803BRCA1c.4925C= (p.Thr1642=)
c.4928C= (p.Thr1643=)
c.4802C= (p.Thr1601=)
c.4922C= (p.Thr1641=)
c.4850C= (p.Thr1617=)
c.1616C= (p.Thr539=)
c.1478C= (p.Thr493=)
c.4040C= (p.Thr1347=)
c.4805C= (p.Thr1602=)
c.4994C= (p.Thr1665=)
c.4787C= (p.Thr1596=)
c.1490C= (p.Thr497=)
c.1535C= (p.Thr512=)
c.4991C= (p.Thr1664=)
c.1315C=
c.1502C= (p.Thr501=)
c.*4711C= (n.*4711C=)
n.81C=
c.1241C= (p.Thr414=)
c.5-7035C= (n.5-7035C=)
c.401C= (p.Thr134=)
c.-98-20796C= (n.-98-20796C=)
n.5064C=
n.5105C=
17g.43070986G>TCA10591666BRCA1c.4925C>A (p.Thr1642Lys)
c.4928C>A (p.Thr1643Lys)
c.4802C>A (p.Thr1601Lys)
c.4922C>A (p.Thr1641Lys)
c.4850C>A (p.Thr1617Lys)
c.1616C>A (p.Thr539Lys)
c.1478C>A (p.Thr493Lys)
c.4040C>A (p.Thr1347Lys)
c.4805C>A (p.Thr1602Lys)
c.4994C>A (p.Thr1665Lys)
c.4787C>A (p.Thr1596Lys)
c.1490C>A (p.Thr497Lys)
c.1535C>A (p.Thr512Lys)
c.4991C>A (p.Thr1664Lys)
c.1315C>A
c.1502C>A (p.Thr501Lys)
c.*4711C>A (n.*4711C>A)
n.81C>A
c.1241C>A (p.Thr414Lys)
c.5-7035C>A (n.5-7035C>A)
c.401C>A (p.Thr134Lys)
c.-98-20796C>A (n.-98-20796C>A)
n.5064C>A
n.5105C>A
 ClinVar dbSNP
17g.43070987T>ACA10591667BRCA1c.4924A>T (p.Thr1642Ser)
c.4927A>T (p.Thr1643Ser)
c.4801A>T (p.Thr1601Ser)
c.4921A>T (p.Thr1641Ser)
c.4849A>T (p.Thr1617Ser)
c.1615A>T (p.Thr539Ser)
c.1477A>T (p.Thr493Ser)
c.4039A>T (p.Thr1347Ser)
c.4804A>T (p.Thr1602Ser)
c.4993A>T (p.Thr1665Ser)
c.4786A>T (p.Thr1596Ser)
c.1489A>T (p.Thr497Ser)
c.1534A>T (p.Thr512Ser)
c.4990A>T (p.Thr1664Ser)
c.1314A>T
c.1501A>T (p.Thr501Ser)
c.*4710A>T (n.*4710A>T)
n.80A>T
c.1240A>T (p.Thr414Ser)
c.5-7036A>T (n.5-7036A>T)
c.400A>T (p.Thr134Ser)
c.-98-20797A>T (n.-98-20797A>T)
n.5063A>T
n.5104A>T
 ClinVar dbSNP
17g.43070987T>CCA10591668BRCA1c.4924A>G (p.Thr1642Ala)
c.4927A>G (p.Thr1643Ala)
c.4801A>G (p.Thr1601Ala)
c.4921A>G (p.Thr1641Ala)
c.4849A>G (p.Thr1617Ala)
c.1615A>G (p.Thr539Ala)
c.1477A>G (p.Thr493Ala)
c.4039A>G (p.Thr1347Ala)
c.4804A>G (p.Thr1602Ala)
c.4993A>G (p.Thr1665Ala)
c.4786A>G (p.Thr1596Ala)
c.1489A>G (p.Thr497Ala)
c.1534A>G (p.Thr512Ala)
c.4990A>G (p.Thr1664Ala)
c.1314A>G
c.1501A>G (p.Thr501Ala)
c.*4710A>G (n.*4710A>G)
n.80A>G
c.1240A>G (p.Thr414Ala)
c.5-7036A>G (n.5-7036A>G)
c.400A>G (p.Thr134Ala)
c.-98-20797A>G (n.-98-20797A>G)
n.5063A>G
n.5104A>G
 ClinVar dbSNP
17g.43070987T>GCA10591669BRCA1c.4924A>C (p.Thr1642Pro)
c.4927A>C (p.Thr1643Pro)
c.4801A>C (p.Thr1601Pro)
c.4921A>C (p.Thr1641Pro)
c.4849A>C (p.Thr1617Pro)
c.1615A>C (p.Thr539Pro)
c.1477A>C (p.Thr493Pro)
c.4039A>C (p.Thr1347Pro)
c.4804A>C (p.Thr1602Pro)
c.4993A>C (p.Thr1665Pro)
c.4786A>C (p.Thr1596Pro)
c.1489A>C (p.Thr497Pro)
c.1534A>C (p.Thr512Pro)
c.4990A>C (p.Thr1664Pro)
c.1314A>C
c.1501A>C (p.Thr501Pro)
c.*4710A>C (n.*4710A>C)
n.80A>C
c.1240A>C (p.Thr414Pro)
c.5-7036A>C (n.5-7036A>C)
c.400A>C (p.Thr134Pro)
c.-98-20797A>C (n.-98-20797A>C)
n.5063A>C
n.5104A>C
 ClinVar dbSNP
17g.43070987T=CA2260772804BRCA1c.4924A= (p.Thr1642=)
c.4927A= (p.Thr1643=)
c.4801A= (p.Thr1601=)
c.4921A= (p.Thr1641=)
c.4849A= (p.Thr1617=)
c.1615A= (p.Thr539=)
c.1477A= (p.Thr493=)
c.4039A= (p.Thr1347=)
c.4804A= (p.Thr1602=)
c.4993A= (p.Thr1665=)
c.4786A= (p.Thr1596=)
c.1489A= (p.Thr497=)
c.1534A= (p.Thr512=)
c.4990A= (p.Thr1664=)
c.1314A=
c.1501A= (p.Thr501=)
c.*4710A= (n.*4710A=)
n.80A=
c.1240A= (p.Thr414=)
c.5-7036A= (n.5-7036A=)
c.400A= (p.Thr134=)
c.-98-20797A= (n.-98-20797A=)
n.5063A=
n.5104A=
17g.43070988T>ACA500231647BRCA1c.4923A>T (p.Ser1641=)
c.4926A>T (p.Ser1642=)
c.4800A>T (p.Ser1600=)
c.4920A>T (p.Ser1640=)
c.4848A>T (p.Ser1616=)
c.1614A>T (p.Ser538=)
c.1476A>T (p.Ser492=)
c.4038A>T (p.Ser1346=)
c.4803A>T (p.Ser1601=)
c.4992A>T (p.Ser1664=)
c.4785A>T (p.Ser1595=)
c.1488A>T (p.Ser496=)
c.1533A>T (p.Ser511=)
c.4989A>T (p.Ser1663=)
c.1313A>T
c.1500A>T (p.Ser500=)
c.*4709A>T (n.*4709A>T)
n.79A>T
c.1239A>T (p.Ser413=)
c.5-7037A>T (n.5-7037A>T)
c.399A>T (p.Ser133=)
c.-98-20798A>T (n.-98-20798A>T)
n.5062A>T
n.5103A>T
 ClinVar dbSNP
17g.43070988T>CCA500231644BRCA1c.4923A>G (p.Ser1641=)
c.4926A>G (p.Ser1642=)
c.4800A>G (p.Ser1600=)
c.4920A>G (p.Ser1640=)
c.4848A>G (p.Ser1616=)
c.1614A>G (p.Ser538=)
c.1476A>G (p.Ser492=)
c.4038A>G (p.Ser1346=)
c.4803A>G (p.Ser1601=)
c.4992A>G (p.Ser1664=)
c.4785A>G (p.Ser1595=)
c.1488A>G (p.Ser496=)
c.1533A>G (p.Ser511=)
c.4989A>G (p.Ser1663=)
c.1313A>G
c.1500A>G (p.Ser500=)
c.*4709A>G (n.*4709A>G)
n.79A>G
c.1239A>G (p.Ser413=)
c.5-7037A>G (n.5-7037A>G)
c.399A>G (p.Ser133=)
c.-98-20798A>G (n.-98-20798A>G)
n.5062A>G
n.5103A>G
 ClinVar dbSNP
17g.43070988T>GCA500231645BRCA1c.4923A>C (p.Ser1641=)
c.4926A>C (p.Ser1642=)
c.4800A>C (p.Ser1600=)
c.4920A>C (p.Ser1640=)
c.4848A>C (p.Ser1616=)
c.1614A>C (p.Ser538=)
c.1476A>C (p.Ser492=)
c.4038A>C (p.Ser1346=)
c.4803A>C (p.Ser1601=)
c.4992A>C (p.Ser1664=)
c.4785A>C (p.Ser1595=)
c.1488A>C (p.Ser496=)
c.1533A>C (p.Ser511=)
c.4989A>C (p.Ser1663=)
c.1313A>C
c.1500A>C (p.Ser500=)
c.*4709A>C (n.*4709A>C)
n.79A>C
c.1239A>C (p.Ser413=)
c.5-7037A>C (n.5-7037A>C)
c.399A>C (p.Ser133=)
c.-98-20798A>C (n.-98-20798A>C)
n.5062A>C
n.5103A>C
 ClinVar dbSNP
17g.43070988T=CA2260772805BRCA1c.4923A= (p.Ser1641=)
c.4926A= (p.Ser1642=)
c.4800A= (p.Ser1600=)
c.4920A= (p.Ser1640=)
c.4848A= (p.Ser1616=)
c.1614A= (p.Ser538=)
c.1476A= (p.Ser492=)
c.4038A= (p.Ser1346=)
c.4803A= (p.Ser1601=)
c.4992A= (p.Ser1664=)
c.4785A= (p.Ser1595=)
c.1488A= (p.Ser496=)
c.1533A= (p.Ser511=)
c.4989A= (p.Ser1663=)
c.1313A=
c.1500A= (p.Ser500=)
c.*4709A= (n.*4709A=)
n.79A=
c.1239A= (p.Ser413=)
c.5-7037A= (n.5-7037A=)
c.399A= (p.Ser133=)
c.-98-20798A= (n.-98-20798A=)
n.5062A=
n.5103A=
17g.43070989G>ACA10591670BRCA1c.4922C>T (p.Ser1641Leu)
c.4925C>T (p.Ser1642Leu)
c.4799C>T (p.Ser1600Leu)
c.4919C>T (p.Ser1640Leu)
c.4847C>T (p.Ser1616Leu)
c.1613C>T (p.Ser538Leu)
c.1475C>T (p.Ser492Leu)
c.4037C>T (p.Ser1346Leu)
c.4802C>T (p.Ser1601Leu)
c.4991C>T (p.Ser1664Leu)
c.4784C>T (p.Ser1595Leu)
c.1487C>T (p.Ser496Leu)
c.1532C>T (p.Ser511Leu)
c.4988C>T (p.Ser1663Leu)
c.1312C>T
c.1499C>T (p.Ser500Leu)
c.*4708C>T (n.*4708C>T)
n.78C>T
c.1238C>T (p.Ser413Leu)
c.5-7038C>T (n.5-7038C>T)
c.398C>T (p.Ser133Leu)
c.-98-20799C>T (n.-98-20799C>T)
n.5061C>T
n.5102C>T
 ClinVar dbSNP
17g.43070989G>CCA10591671BRCA1c.4922C>G (p.Ser1641Ter)
c.4925C>G (p.Ser1642Ter)
c.4799C>G (p.Ser1600Ter)
c.4919C>G (p.Ser1640Ter)
c.4847C>G (p.Ser1616Ter)
c.1613C>G (p.Ser538Ter)
c.1475C>G (p.Ser492Ter)
c.4037C>G (p.Ser1346Ter)
c.4802C>G (p.Ser1601Ter)
c.4991C>G (p.Ser1664Ter)
c.4784C>G (p.Ser1595Ter)
c.1487C>G (p.Ser496Ter)
c.1532C>G (p.Ser511Ter)
c.4988C>G (p.Ser1663Ter)
c.1312C>G
c.1499C>G (p.Ser500Ter)
c.*4708C>G (n.*4708C>G)
n.78C>G
c.1238C>G (p.Ser413Ter)
c.5-7038C>G (n.5-7038C>G)
c.398C>G (p.Ser133Ter)
c.-98-20799C>G (n.-98-20799C>G)
n.5061C>G
n.5102C>G
 ClinVar dbSNP
17g.43070989G=CA2260772806BRCA1c.4922C= (p.Ser1641=)
c.4925C= (p.Ser1642=)
c.4799C= (p.Ser1600=)
c.4919C= (p.Ser1640=)
c.4847C= (p.Ser1616=)
c.1613C= (p.Ser538=)
c.1475C= (p.Ser492=)
c.4037C= (p.Ser1346=)
c.4802C= (p.Ser1601=)
c.4991C= (p.Ser1664=)
c.4784C= (p.Ser1595=)
c.1487C= (p.Ser496=)
c.1532C= (p.Ser511=)
c.4988C= (p.Ser1663=)
c.1312C=
c.1499C= (p.Ser500=)
c.*4708C= (n.*4708C=)
n.78C=
c.1238C= (p.Ser413=)
c.5-7038C= (n.5-7038C=)
c.398C= (p.Ser133=)
c.-98-20799C= (n.-98-20799C=)
n.5061C=
n.5102C=
17g.43070989G>TCA10591672BRCA1c.4922C>A (p.Ser1641Ter)
c.4925C>A (p.Ser1642Ter)
c.4799C>A (p.Ser1600Ter)
c.4919C>A (p.Ser1640Ter)
c.4847C>A (p.Ser1616Ter)
c.1613C>A (p.Ser538Ter)
c.1475C>A (p.Ser492Ter)
c.4037C>A (p.Ser1346Ter)
c.4802C>A (p.Ser1601Ter)
c.4991C>A (p.Ser1664Ter)
c.4784C>A (p.Ser1595Ter)
c.1487C>A (p.Ser496Ter)
c.1532C>A (p.Ser511Ter)
c.4988C>A (p.Ser1663Ter)
c.1312C>A
c.1499C>A (p.Ser500Ter)
c.*4708C>A (n.*4708C>A)
n.78C>A
c.1238C>A (p.Ser413Ter)
c.5-7038C>A (n.5-7038C>A)
c.398C>A (p.Ser133Ter)
c.-98-20799C>A (n.-98-20799C>A)
n.5061C>A
n.5102C>A
 ClinVar dbSNP
17g.43070990A=CA2260772807BRCA1c.4921T= (p.Ser1641=)
c.4924T= (p.Ser1642=)
c.4798T= (p.Ser1600=)
c.4918T= (p.Ser1640=)
c.4846T= (p.Ser1616=)
c.1612T= (p.Ser538=)
c.1474T= (p.Ser492=)
c.4036T= (p.Ser1346=)
c.4801T= (p.Ser1601=)
c.4990T= (p.Ser1664=)
c.4783T= (p.Ser1595=)
c.1486T= (p.Ser496=)
c.1531T= (p.Ser511=)
c.4987T= (p.Ser1663=)
c.1311T=
c.1498T= (p.Ser500=)
c.*4707T= (n.*4707T=)
n.77T=
c.1237T= (p.Ser413=)
c.5-7039T= (n.5-7039T=)
c.397T= (p.Ser133=)
c.-98-20800T= (n.-98-20800T=)
n.5060T=
n.5101T=
17g.43070990A>CCA10591673BRCA1c.4921T>G (p.Ser1641Ala)
c.4924T>G (p.Ser1642Ala)
c.4798T>G (p.Ser1600Ala)
c.4918T>G (p.Ser1640Ala)
c.4846T>G (p.Ser1616Ala)
c.1612T>G (p.Ser538Ala)
c.1474T>G (p.Ser492Ala)
c.4036T>G (p.Ser1346Ala)
c.4801T>G (p.Ser1601Ala)
c.4990T>G (p.Ser1664Ala)
c.4783T>G (p.Ser1595Ala)
c.1486T>G (p.Ser496Ala)
c.1531T>G (p.Ser511Ala)
c.4987T>G (p.Ser1663Ala)
c.1311T>G
c.1498T>G (p.Ser500Ala)
c.*4707T>G (n.*4707T>G)
n.77T>G
c.1237T>G (p.Ser413Ala)
c.5-7039T>G (n.5-7039T>G)
c.397T>G (p.Ser133Ala)
c.-98-20800T>G (n.-98-20800T>G)
n.5060T>G
n.5101T>G
 ClinVar dbSNP
17g.43070990A>GCA10591674BRCA1c.4921T>C (p.Ser1641Pro)
c.4924T>C (p.Ser1642Pro)
c.4798T>C (p.Ser1600Pro)
c.4918T>C (p.Ser1640Pro)
c.4846T>C (p.Ser1616Pro)
c.1612T>C (p.Ser538Pro)
c.1474T>C (p.Ser492Pro)
c.4036T>C (p.Ser1346Pro)
c.4801T>C (p.Ser1601Pro)
c.4990T>C (p.Ser1664Pro)
c.4783T>C (p.Ser1595Pro)
c.1486T>C (p.Ser496Pro)
c.1531T>C (p.Ser511Pro)
c.4987T>C (p.Ser1663Pro)
c.1311T>C
c.1498T>C (p.Ser500Pro)
c.*4707T>C (n.*4707T>C)
n.77T>C
c.1237T>C (p.Ser413Pro)
c.5-7039T>C (n.5-7039T>C)
c.397T>C (p.Ser133Pro)
c.-98-20800T>C (n.-98-20800T>C)
n.5060T>C
n.5101T>C
 ClinVar dbSNP
17g.43070990A>TCA10591675BRCA1c.4921T>A (p.Ser1641Thr)
c.4924T>A (p.Ser1642Thr)
c.4798T>A (p.Ser1600Thr)
c.4918T>A (p.Ser1640Thr)
c.4846T>A (p.Ser1616Thr)
c.1612T>A (p.Ser538Thr)
c.1474T>A (p.Ser492Thr)
c.4036T>A (p.Ser1346Thr)
c.4801T>A (p.Ser1601Thr)
c.4990T>A (p.Ser1664Thr)
c.4783T>A (p.Ser1595Thr)
c.1486T>A (p.Ser496Thr)
c.1531T>A (p.Ser511Thr)
c.4987T>A (p.Ser1663Thr)
c.1311T>A
c.1498T>A (p.Ser500Thr)
c.*4707T>A (n.*4707T>A)
n.77T>A
c.1237T>A (p.Ser413Thr)
c.5-7039T>A (n.5-7039T>A)
c.397T>A (p.Ser133Thr)
c.-98-20800T>A (n.-98-20800T>A)
n.5060T>A
n.5101T>A
 ClinVar dbSNP
17g.43070991A=CA2260772808BRCA1c.4920T= (p.Ala1640=)
c.4923T= (p.Ala1641=)
c.4797T= (p.Ala1599=)
c.4917T= (p.Ala1639=)
c.4845T= (p.Ala1615=)
c.1611T= (p.Ala537=)
c.1473T= (p.Ala491=)
c.4035T= (p.Ala1345=)
c.4800T= (p.Ala1600=)
c.4989T= (p.Ala1663=)
c.4782T= (p.Ala1594=)
c.1485T= (p.Ala495=)
c.1530T= (p.Ala510=)
c.4986T= (p.Ala1662=)
c.1310T=
c.1497T= (p.Ala499=)
c.*4706T= (n.*4706T=)
n.76T=
c.1236T= (p.Ala412=)
c.5-7040T= (n.5-7040T=)
c.396T= (p.Ala132=)
c.-98-20801T= (n.-98-20801T=)
n.5059T=
n.5100T=
17g.43070991A>CCA10580505BRCA1c.4920T>G (p.Ala1640=)
c.4923T>G (p.Ala1641=)
c.4797T>G (p.Ala1599=)
c.4917T>G (p.Ala1639=)
c.4845T>G (p.Ala1615=)
c.1611T>G (p.Ala537=)
c.1473T>G (p.Ala491=)
c.4035T>G (p.Ala1345=)
c.4800T>G (p.Ala1600=)
c.4989T>G (p.Ala1663=)
c.4782T>G (p.Ala1594=)
c.1485T>G (p.Ala495=)
c.1530T>G (p.Ala510=)
c.4986T>G (p.Ala1662=)
c.1310T>G
c.1497T>G (p.Ala499=)
c.*4706T>G (n.*4706T>G)
n.76T>G
c.1236T>G (p.Ala412=)
c.5-7040T>G (n.5-7040T>G)
c.396T>G (p.Ala132=)
c.-98-20801T>G (n.-98-20801T>G)
n.5059T>G
n.5100T>G
 ClinVar dbSNP gnomAD v4
17g.43070991A>GCA500231648BRCA1c.4920T>C (p.Ala1640=)
c.4923T>C (p.Ala1641=)
c.4797T>C (p.Ala1599=)
c.4917T>C (p.Ala1639=)
c.4845T>C (p.Ala1615=)
c.1611T>C (p.Ala537=)
c.1473T>C (p.Ala491=)
c.4035T>C (p.Ala1345=)
c.4800T>C (p.Ala1600=)
c.4989T>C (p.Ala1663=)
c.4782T>C (p.Ala1594=)
c.1485T>C (p.Ala495=)
c.1530T>C (p.Ala510=)
c.4986T>C (p.Ala1662=)
c.1310T>C
c.1497T>C (p.Ala499=)
c.*4706T>C (n.*4706T>C)
n.76T>C
c.1236T>C (p.Ala412=)
c.5-7040T>C (n.5-7040T>C)
c.396T>C (p.Ala132=)
c.-98-20801T>C (n.-98-20801T>C)
n.5059T>C
n.5100T>C
 ClinVar dbSNP
17g.43070991A>TCA500231649BRCA1c.4920T>A (p.Ala1640=)
c.4923T>A (p.Ala1641=)
c.4797T>A (p.Ala1599=)
c.4917T>A (p.Ala1639=)
c.4845T>A (p.Ala1615=)
c.1611T>A (p.Ala537=)
c.1473T>A (p.Ala491=)
c.4035T>A (p.Ala1345=)
c.4800T>A (p.Ala1600=)
c.4989T>A (p.Ala1663=)
c.4782T>A (p.Ala1594=)
c.1485T>A (p.Ala495=)
c.1530T>A (p.Ala510=)
c.4986T>A (p.Ala1662=)
c.1310T>A
c.1497T>A (p.Ala499=)
c.*4706T>A (n.*4706T>A)
n.76T>A
c.1236T>A (p.Ala412=)
c.5-7040T>A (n.5-7040T>A)
c.396T>A (p.Ala132=)
c.-98-20801T>A (n.-98-20801T>A)
n.5059T>A
n.5100T>A
 ClinVar dbSNP
17g.43070992G>ACA10591676BRCA1c.4919C>T (p.Ala1640Val)
c.4922C>T (p.Ala1641Val)
c.4796C>T (p.Ala1599Val)
c.4916C>T (p.Ala1639Val)
c.4844C>T (p.Ala1615Val)
c.1610C>T (p.Ala537Val)
c.1472C>T (p.Ala491Val)
c.4034C>T (p.Ala1345Val)
c.4799C>T (p.Ala1600Val)
c.4988C>T (p.Ala1663Val)
c.4781C>T (p.Ala1594Val)
c.1484C>T (p.Ala495Val)
c.1529C>T (p.Ala510Val)
c.4985C>T (p.Ala1662Val)
c.1309C>T
c.1496C>T (p.Ala499Val)
c.*4705C>T (n.*4705C>T)
n.75C>T
c.1235C>T (p.Ala412Val)
c.5-7041C>T (n.5-7041C>T)
c.395C>T (p.Ala132Val)
c.-98-20802C>T (n.-98-20802C>T)
n.5058C>T
n.5099C>T
 ClinVar dbSNP
17g.43070992G>CCA10591677BRCA1c.4919C>G (p.Ala1640Gly)
c.4922C>G (p.Ala1641Gly)
c.4796C>G (p.Ala1599Gly)
c.4916C>G (p.Ala1639Gly)
c.4844C>G (p.Ala1615Gly)
c.1610C>G (p.Ala537Gly)
c.1472C>G (p.Ala491Gly)
c.4034C>G (p.Ala1345Gly)
c.4799C>G (p.Ala1600Gly)
c.4988C>G (p.Ala1663Gly)
c.4781C>G (p.Ala1594Gly)
c.1484C>G (p.Ala495Gly)
c.1529C>G (p.Ala510Gly)
c.4985C>G (p.Ala1662Gly)
c.1309C>G
c.1496C>G (p.Ala499Gly)
c.*4705C>G (n.*4705C>G)
n.75C>G
c.1235C>G (p.Ala412Gly)
c.5-7041C>G (n.5-7041C>G)
c.395C>G (p.Ala132Gly)
c.-98-20802C>G (n.-98-20802C>G)
n.5058C>G
n.5099C>G
 ClinVar dbSNP
17g.43070992G=CA2260772810BRCA1c.4919C= (p.Ala1640=)
c.4922C= (p.Ala1641=)
c.4796C= (p.Ala1599=)
c.4916C= (p.Ala1639=)
c.4844C= (p.Ala1615=)
c.1610C= (p.Ala537=)
c.1472C= (p.Ala491=)
c.4034C= (p.Ala1345=)
c.4799C= (p.Ala1600=)
c.4988C= (p.Ala1663=)
c.4781C= (p.Ala1594=)
c.1484C= (p.Ala495=)
c.1529C= (p.Ala510=)
c.4985C= (p.Ala1662=)
c.1309C=
c.1496C= (p.Ala499=)
c.*4705C= (n.*4705C=)
n.75C=
c.1235C= (p.Ala412=)
c.5-7041C= (n.5-7041C=)
c.395C= (p.Ala132=)
c.-98-20802C= (n.-98-20802C=)
n.5058C=
n.5099C=
17g.43070992G>TCA10591678BRCA1c.4919C>A (p.Ala1640Asp)
c.4922C>A (p.Ala1641Asp)
c.4796C>A (p.Ala1599Asp)
c.4916C>A (p.Ala1639Asp)
c.4844C>A (p.Ala1615Asp)
c.1610C>A (p.Ala537Asp)
c.1472C>A (p.Ala491Asp)
c.4034C>A (p.Ala1345Asp)
c.4799C>A (p.Ala1600Asp)
c.4988C>A (p.Ala1663Asp)
c.4781C>A (p.Ala1594Asp)
c.1484C>A (p.Ala495Asp)
c.1529C>A (p.Ala510Asp)
c.4985C>A (p.Ala1662Asp)
c.1309C>A
c.1496C>A (p.Ala499Asp)
c.*4705C>A (n.*4705C>A)
n.75C>A
c.1235C>A (p.Ala412Asp)
c.5-7041C>A (n.5-7041C>A)
c.395C>A (p.Ala132Asp)
c.-98-20802C>A (n.-98-20802C>A)
n.5058C>A
n.5099C>A
 ClinVar dbSNP
17g.43070992_43070993delinsGCCA2260772809BRCA1c.4918_4919delinsGC (p.Ala1640=)
c.4921_4922delinsGC (p.Ala1641=)
c.4795_4796delinsGC (p.Ala1599=)
c.4915_4916delinsGC (p.Ala1639=)
c.4843_4844delinsGC (p.Ala1615=)
c.1609_1610delinsGC (p.Ala537=)
c.1471_1472delinsGC (p.Ala491=)
c.4033_4034delinsGC (p.Ala1345=)
c.4798_4799delinsGC (p.Ala1600=)
c.4987_4988delinsGC (p.Ala1663=)
c.4780_4781delinsGC (p.Ala1594=)
c.1483_1484delinsGC (p.Ala495=)
c.1528_1529delinsGC (p.Ala510=)
c.4984_4985delinsGC (p.Ala1662=)
c.1308_1309delinsGC
c.1495_1496delinsGC (p.Ala499=)
c.*4704_*4705delinsGC (n.*4704_*4705delinsGC)
n.74_75delinsGC
c.1234_1235delinsGC (p.Ala412=)
c.5-7042_5-7041delinsGC (n.5-7042_5-7041delinsGC)
c.394_395delinsGC (p.Ala132=)
c.-98-20803_-98-20802delinsGC (n.-98-20803_-98-20802delinsGC)
n.5057_5058delinsGC
n.5098_5099delinsGC
17g.43070993delCA10589636BRCA1c.4918del (p.Ala1640LeufsTer17)
c.4921del (p.Ala1641LeufsTer17)
c.4795del (p.Ala1599LeufsTer17)
c.4915del (p.Ala1639LeufsTer17)
c.4843del (p.Ala1615LeufsTer17)
c.1609del (p.Ala537LeufsTer17)
c.1471del (p.Ala491LeufsTer17)
c.4033del (p.Ala1345LeufsTer17)
c.4798del (p.Ala1600LeufsTer17)
c.4987del (p.Ala1663LeufsTer17)
c.4780del (p.Ala1594LeufsTer17)
c.1483del (p.Ala495LeufsTer17)
c.1528del (p.Ala510LeufsTer17)
c.4984del (p.Ala1662LeufsTer17)
c.1308del
c.1495del (p.Ala499LeufsTer17)
c.*4704del (n.*4704del)
n.74del
c.1234del (p.Ala412LeufsTer17)
c.5-7042del (n.5-7042del)
c.394del (p.Ala132LeufsTer17)
c.-98-20803del (n.-98-20803del)
n.5057del
n.5098del
 ClinVar dbSNP
17g.43070993C>ACA10591679BRCA1c.4918G>T (p.Ala1640Ser)
c.4921G>T (p.Ala1641Ser)
c.4795G>T (p.Ala1599Ser)
c.4915G>T (p.Ala1639Ser)
c.4843G>T (p.Ala1615Ser)
c.1609G>T (p.Ala537Ser)
c.1471G>T (p.Ala491Ser)
c.4033G>T (p.Ala1345Ser)
c.4798G>T (p.Ala1600Ser)
c.4987G>T (p.Ala1663Ser)
c.4780G>T (p.Ala1594Ser)
c.1483G>T (p.Ala495Ser)
c.1528G>T (p.Ala510Ser)
c.4984G>T (p.Ala1662Ser)
c.1308G>T
c.1495G>T (p.Ala499Ser)
c.*4704G>T (n.*4704G>T)
n.74G>T
c.1234G>T (p.Ala412Ser)
c.5-7042G>T (n.5-7042G>T)
c.394G>T (p.Ala132Ser)
c.-98-20803G>T (n.-98-20803G>T)
n.5057G>T
n.5098G>T
 ClinVar dbSNP
17g.43070993C=CA2260772811BRCA1c.4918G= (p.Ala1640=)
c.4921G= (p.Ala1641=)
c.4795G= (p.Ala1599=)
c.4915G= (p.Ala1639=)
c.4843G= (p.Ala1615=)
c.1609G= (p.Ala537=)
c.1471G= (p.Ala491=)
c.4033G= (p.Ala1345=)
c.4798G= (p.Ala1600=)
c.4987G= (p.Ala1663=)
c.4780G= (p.Ala1594=)
c.1483G= (p.Ala495=)
c.1528G= (p.Ala510=)
c.4984G= (p.Ala1662=)
c.1308G=
c.1495G= (p.Ala499=)
c.*4704G= (n.*4704G=)
n.74G=
c.1234G= (p.Ala412=)
c.5-7042G= (n.5-7042G=)
c.394G= (p.Ala132=)
c.-98-20803G= (n.-98-20803G=)
n.5057G=
n.5098G=
17g.43070993C>GCA10591680BRCA1c.4918G>C (p.Ala1640Pro)
c.4921G>C (p.Ala1641Pro)
c.4795G>C (p.Ala1599Pro)
c.4915G>C (p.Ala1639Pro)
c.4843G>C (p.Ala1615Pro)
c.1609G>C (p.Ala537Pro)
c.1471G>C (p.Ala491Pro)
c.4033G>C (p.Ala1345Pro)
c.4798G>C (p.Ala1600Pro)
c.4987G>C (p.Ala1663Pro)
c.4780G>C (p.Ala1594Pro)
c.1483G>C (p.Ala495Pro)
c.1528G>C (p.Ala510Pro)
c.4984G>C (p.Ala1662Pro)
c.1308G>C
c.1495G>C (p.Ala499Pro)
c.*4704G>C (n.*4704G>C)
n.74G>C
c.1234G>C (p.Ala412Pro)
c.5-7042G>C (n.5-7042G>C)
c.394G>C (p.Ala132Pro)
c.-98-20803G>C (n.-98-20803G>C)
n.5057G>C
n.5098G>C
 ClinVar dbSNP
17g.43070993C>TCA003079BRCA1c.4918G>A (p.Ala1640Thr)
c.4921G>A (p.Ala1641Thr)
c.4795G>A (p.Ala1599Thr)
c.4915G>A (p.Ala1639Thr)
c.4843G>A (p.Ala1615Thr)
c.1609G>A (p.Ala537Thr)
c.1471G>A (p.Ala491Thr)
c.4033G>A (p.Ala1345Thr)
c.4798G>A (p.Ala1600Thr)
c.4987G>A (p.Ala1663Thr)
c.4780G>A (p.Ala1594Thr)
c.1483G>A (p.Ala495Thr)
c.1528G>A (p.Ala510Thr)
c.4984G>A (p.Ala1662Thr)
c.1308G>A
c.1495G>A (p.Ala499Thr)
c.*4704G>A (n.*4704G>A)
n.74G>A
c.1234G>A (p.Ala412Thr)
c.5-7042G>A (n.5-7042G>A)
c.394G>A (p.Ala132Thr)
c.-98-20803G>A (n.-98-20803G>A)
n.5057G>A
n.5098G>A
 ClinVar dbSNP
17g.43070994T>ACA500231660BRCA1c.4917A>T (p.Thr1639=)
c.4920A>T (p.Thr1640=)
c.4794A>T (p.Thr1598=)
c.4914A>T (p.Thr1638=)
c.4842A>T (p.Thr1614=)
c.1608A>T (p.Thr536=)
c.1470A>T (p.Thr490=)
c.4032A>T (p.Thr1344=)
c.4797A>T (p.Thr1599=)
c.4986A>T (p.Thr1662=)
c.4779A>T (p.Thr1593=)
c.1482A>T (p.Thr494=)
c.1527A>T (p.Thr509=)
c.4983A>T (p.Thr1661=)
c.1307A>T
c.1494A>T (p.Thr498=)
c.*4703A>T (n.*4703A>T)
n.73A>T
c.1233A>T (p.Thr411=)
c.5-7043A>T (n.5-7043A>T)
c.393A>T (p.Thr131=)
c.-98-20804A>T (n.-98-20804A>T)
n.5056A>T
n.5097A>T
 ClinVar dbSNP
17g.43070994T>CCA500231661BRCA1c.4917A>G (p.Thr1639=)
c.4920A>G (p.Thr1640=)
c.4794A>G (p.Thr1598=)
c.4914A>G (p.Thr1638=)
c.4842A>G (p.Thr1614=)
c.1608A>G (p.Thr536=)
c.1470A>G (p.Thr490=)
c.4032A>G (p.Thr1344=)
c.4797A>G (p.Thr1599=)
c.4986A>G (p.Thr1662=)
c.4779A>G (p.Thr1593=)
c.1482A>G (p.Thr494=)
c.1527A>G (p.Thr509=)
c.4983A>G (p.Thr1661=)
c.1307A>G
c.1494A>G (p.Thr498=)
c.*4703A>G (n.*4703A>G)
n.73A>G
c.1233A>G (p.Thr411=)
c.5-7043A>G (n.5-7043A>G)
c.393A>G (p.Thr131=)
c.-98-20804A>G (n.-98-20804A>G)
n.5056A>G
n.5097A>G
 ClinVar dbSNP
17g.43070994T>GCA500231662BRCA1c.4917A>C (p.Thr1639=)
c.4920A>C (p.Thr1640=)
c.4794A>C (p.Thr1598=)
c.4914A>C (p.Thr1638=)
c.4842A>C (p.Thr1614=)
c.1608A>C (p.Thr536=)
c.1470A>C (p.Thr490=)
c.4032A>C (p.Thr1344=)
c.4797A>C (p.Thr1599=)
c.4986A>C (p.Thr1662=)
c.4779A>C (p.Thr1593=)
c.1482A>C (p.Thr494=)
c.1527A>C (p.Thr509=)
c.4983A>C (p.Thr1661=)
c.1307A>C
c.1494A>C (p.Thr498=)
c.*4703A>C (n.*4703A>C)
n.73A>C
c.1233A>C (p.Thr411=)
c.5-7043A>C (n.5-7043A>C)
c.393A>C (p.Thr131=)
c.-98-20804A>C (n.-98-20804A>C)
n.5056A>C
n.5097A>C
 ClinVar dbSNP COSMIC
17g.43070994T=CA2260772813BRCA1c.4917A= (p.Thr1639=)
c.4920A= (p.Thr1640=)
c.4794A= (p.Thr1598=)
c.4914A= (p.Thr1638=)
c.4842A= (p.Thr1614=)
c.1608A= (p.Thr536=)
c.1470A= (p.Thr490=)
c.4032A= (p.Thr1344=)
c.4797A= (p.Thr1599=)
c.4986A= (p.Thr1662=)
c.4779A= (p.Thr1593=)
c.1482A= (p.Thr494=)
c.1527A= (p.Thr509=)
c.4983A= (p.Thr1661=)
c.1307A=
c.1494A= (p.Thr498=)
c.*4703A= (n.*4703A=)
n.73A=
c.1233A= (p.Thr411=)
c.5-7043A= (n.5-7043A=)
c.393A= (p.Thr131=)
c.-98-20804A= (n.-98-20804A=)
n.5056A=
n.5097A=
17g.43070994_43071013delinsTGTCAATTCTGGCTTCTCCCCA2260772812BRCA1c.4898_4917delinsGGGAGAAGCCAGAATTGACA (p.Arg1633=)
c.4901_4920delinsGGGAGAAGCCAGAATTGACA (p.Arg1634=)
c.4775_4794delinsGGGAGAAGCCAGAATTGACA (p.Arg1592=)
c.4895_4914delinsGGGAGAAGCCAGAATTGACA (p.Arg1632=)
c.4823_4842delinsGGGAGAAGCCAGAATTGACA (p.Arg1608=)
c.1589_1608delinsGGGAGAAGCCAGAATTGACA (p.Arg530=)
c.1451_1470delinsGGGAGAAGCCAGAATTGACA (p.Arg484=)
c.4013_4032delinsGGGAGAAGCCAGAATTGACA (p.Arg1338=)
c.4778_4797delinsGGGAGAAGCCAGAATTGACA (p.Arg1593=)
c.4967_4986delinsGGGAGAAGCCAGAATTGACA (p.Arg1656=)
c.4760_4779delinsGGGAGAAGCCAGAATTGACA (p.Arg1587=)
c.1463_1482delinsGGGAGAAGCCAGAATTGACA (p.Arg488=)
c.1508_1527delinsGGGAGAAGCCAGAATTGACA (p.Arg503=)
c.4964_4983delinsGGGAGAAGCCAGAATTGACA (p.Arg1655=)
c.1288_1307delinsGGGAGAAGCCAGAATTGACA
c.1475_1494delinsGGGAGAAGCCAGAATTGACA (p.Arg492=)
c.*4684_*4703delinsGGGAGAAGCCAGAATTGACA (n.*4684_*4703delinsGGGAGAAGCCAGAATTGACA)
n.54_73delinsGGGAGAAGCCAGAATTGACA
c.1214_1233delinsGGGAGAAGCCAGAATTGACA (p.Arg405=)
c.5-7062_5-7043delinsGGGAGAAGCCAGAATTGACA (n.5-7062_5-7043delinsGGGAGAAGCCAGAATTGACA)
c.374_393delinsGGGAGAAGCCAGAATTGACA (p.Arg125=)
c.-98-20823_-98-20804delinsGGGAGAAGCCAGAATTGACA (n.-98-20823_-98-20804delinsGGGAGAAGCCAGAATTGACA)
n.5037_5056delinsGGGAGAAGCCAGAATTGACA
n.5078_5097delinsGGGAGAAGCCAGAATTGACA
17g.43070995G>ACA10591681BRCA1c.4916C>T (p.Thr1639Ile)
c.4919C>T (p.Thr1640Ile)
c.4793C>T (p.Thr1598Ile)
c.4913C>T (p.Thr1638Ile)
c.4841C>T (p.Thr1614Ile)
c.1607C>T (p.Thr536Ile)
c.1469C>T (p.Thr490Ile)
c.4031C>T (p.Thr1344Ile)
c.4796C>T (p.Thr1599Ile)
c.4985C>T (p.Thr1662Ile)
c.4778C>T (p.Thr1593Ile)
c.1481C>T (p.Thr494Ile)
c.1526C>T (p.Thr509Ile)
c.4982C>T (p.Thr1661Ile)
c.1306C>T
c.1493C>T (p.Thr498Ile)
c.*4702C>T (n.*4702C>T)
n.72C>T
c.1232C>T (p.Thr411Ile)
c.5-7044C>T (n.5-7044C>T)
c.392C>T (p.Thr131Ile)
c.-98-20805C>T (n.-98-20805C>T)
n.5055C>T
n.5096C>T
 ClinVar dbSNP
17g.43070995G>CCA10591682BRCA1c.4916C>G (p.Thr1639Arg)
c.4919C>G (p.Thr1640Arg)
c.4793C>G (p.Thr1598Arg)
c.4913C>G (p.Thr1638Arg)
c.4841C>G (p.Thr1614Arg)
c.1607C>G (p.Thr536Arg)
c.1469C>G (p.Thr490Arg)
c.4031C>G (p.Thr1344Arg)
c.4796C>G (p.Thr1599Arg)
c.4985C>G (p.Thr1662Arg)
c.4778C>G (p.Thr1593Arg)
c.1481C>G (p.Thr494Arg)
c.1526C>G (p.Thr509Arg)
c.4982C>G (p.Thr1661Arg)
c.1306C>G
c.1493C>G (p.Thr498Arg)
c.*4702C>G (n.*4702C>G)
n.72C>G
c.1232C>G (p.Thr411Arg)
c.5-7044C>G (n.5-7044C>G)
c.392C>G (p.Thr131Arg)
c.-98-20805C>G (n.-98-20805C>G)
n.5055C>G
n.5096C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43070995G=CA2260772814BRCA1c.4916C= (p.Thr1639=)
c.4919C= (p.Thr1640=)
c.4793C= (p.Thr1598=)
c.4913C= (p.Thr1638=)
c.4841C= (p.Thr1614=)
c.1607C= (p.Thr536=)
c.1469C= (p.Thr490=)
c.4031C= (p.Thr1344=)
c.4796C= (p.Thr1599=)
c.4985C= (p.Thr1662=)
c.4778C= (p.Thr1593=)
c.1481C= (p.Thr494=)
c.1526C= (p.Thr509=)
c.4982C= (p.Thr1661=)
c.1306C=
c.1493C= (p.Thr498=)
c.*4702C= (n.*4702C=)
n.72C=
c.1232C= (p.Thr411=)
c.5-7044C= (n.5-7044C=)
c.392C= (p.Thr131=)
c.-98-20805C= (n.-98-20805C=)
n.5055C=
n.5096C=
17g.43070995G>TCA10591683BRCA1c.4916C>A (p.Thr1639Lys)
c.4919C>A (p.Thr1640Lys)
c.4793C>A (p.Thr1598Lys)
c.4913C>A (p.Thr1638Lys)
c.4841C>A (p.Thr1614Lys)
c.1607C>A (p.Thr536Lys)
c.1469C>A (p.Thr490Lys)
c.4031C>A (p.Thr1344Lys)
c.4796C>A (p.Thr1599Lys)
c.4985C>A (p.Thr1662Lys)
c.4778C>A (p.Thr1593Lys)
c.1481C>A (p.Thr494Lys)
c.1526C>A (p.Thr509Lys)
c.4982C>A (p.Thr1661Lys)
c.1306C>A
c.1493C>A (p.Thr498Lys)
c.*4702C>A (n.*4702C>A)
n.72C>A
c.1232C>A (p.Thr411Lys)
c.5-7044C>A (n.5-7044C>A)
c.392C>A (p.Thr131Lys)
c.-98-20805C>A (n.-98-20805C>A)
n.5055C>A
n.5096C>A
 ClinVar dbSNP
17g.43070995_43071013delCA645373141BRCA1c.4898_4916del (p.Arg1633LysfsTer18)
c.4901_4919del (p.Arg1634LysfsTer18)
c.4775_4793del (p.Arg1592LysfsTer18)
c.4895_4913del (p.Arg1632LysfsTer18)
c.4823_4841del (p.Arg1608LysfsTer18)
c.1589_1607del (p.Arg530LysfsTer18)
c.1451_1469del (p.Arg484LysfsTer18)
c.4013_4031del (p.Arg1338LysfsTer18)
c.4778_4796del (p.Arg1593LysfsTer18)
c.4967_4985del (p.Arg1656LysfsTer18)
c.4760_4778del (p.Arg1587LysfsTer18)
c.1463_1481del (p.Arg488LysfsTer18)
c.1508_1526del (p.Arg503LysfsTer18)
c.4964_4982del (p.Arg1655LysfsTer18)
c.1288_1306del
c.1475_1493del (p.Arg492LysfsTer18)
c.*4684_*4702del (n.*4684_*4702del)
n.54_72del
c.1214_1232del (p.Arg405LysfsTer18)
c.5-7062_5-7044del (n.5-7062_5-7044del)
c.374_392del (p.Arg125LysfsTer18)
c.-98-20823_-98-20805del (n.-98-20823_-98-20805del)
n.5037_5055del
n.5078_5096del
 ClinVar dbSNP
17g.43070995_43070996insGTCAATTCTGGCTTCTCCCCA919844186BRCA1c.4915_4916insGGGAGAAGCCAGAATTGAC (p.Thr1639ArgfsTer?)
c.4918_4919insGGGAGAAGCCAGAATTGAC (p.Thr1640ArgfsTer?)
c.4792_4793insGGGAGAAGCCAGAATTGAC (p.Thr1598ArgfsTer?)
c.4912_4913insGGGAGAAGCCAGAATTGAC (p.Thr1638ArgfsTer?)
c.4840_4841insGGGAGAAGCCAGAATTGAC (p.Thr1614ArgfsTer?)
c.1606_1607insGGGAGAAGCCAGAATTGAC (p.Thr536ArgfsTer?)
c.1468_1469insGGGAGAAGCCAGAATTGAC (p.Thr490ArgfsTer?)
c.4030_4031insGGGAGAAGCCAGAATTGAC (p.Thr1344ArgfsTer?)
c.4795_4796insGGGAGAAGCCAGAATTGAC (p.Thr1599ArgfsTer?)
c.4984_4985insGGGAGAAGCCAGAATTGAC (p.Thr1662ArgfsTer?)
c.4777_4778insGGGAGAAGCCAGAATTGAC (p.Thr1593ArgfsTer?)
c.1480_1481insGGGAGAAGCCAGAATTGAC (p.Thr494ArgfsTer?)
c.1525_1526insGGGAGAAGCCAGAATTGAC (p.Thr509ArgfsTer?)
c.4981_4982insGGGAGAAGCCAGAATTGAC (p.Thr1661ArgfsTer?)
c.1305_1306insGGGAGAAGCCAGAATTGAC
c.1492_1493insGGGAGAAGCCAGAATTGAC (p.Thr498ArgfsTer?)
c.*4701_*4702insGGGAGAAGCCAGAATTGAC (n.*4701_*4702insGGGAGAAGCCAGAATTGAC)
n.71_72insGGGAGAAGCCAGAATTGAC
c.1231_1232insGGGAGAAGCCAGAATTGAC (p.Thr411ArgfsTer?)
c.5-7045_5-7044insGGGAGAAGCCAGAATTGAC (n.5-7045_5-7044insGGGAGAAGCCAGAATTGAC)
c.391_392insGGGAGAAGCCAGAATTGAC (p.Thr131ArgfsTer?)
c.-98-20806_-98-20805insGGGAGAAGCCAGAATTGAC (n.-98-20806_-98-20805insGGGAGAAGCCAGAATTGAC)
n.5054_5055insGGGAGAAGCCAGAATTGAC
n.5095_5096insGGGAGAAGCCAGAATTGAC
 dbSNP
17g.43070996T>ACA10591684BRCA1c.4915A>T (p.Thr1639Ser)
c.4918A>T (p.Thr1640Ser)
c.4792A>T (p.Thr1598Ser)
c.4912A>T (p.Thr1638Ser)
c.4840A>T (p.Thr1614Ser)
c.1606A>T (p.Thr536Ser)
c.1468A>T (p.Thr490Ser)
c.4030A>T (p.Thr1344Ser)
c.4795A>T (p.Thr1599Ser)
c.4984A>T (p.Thr1662Ser)
c.4777A>T (p.Thr1593Ser)
c.1480A>T (p.Thr494Ser)
c.1525A>T (p.Thr509Ser)
c.4981A>T (p.Thr1661Ser)
c.1305A>T
c.1492A>T (p.Thr498Ser)
c.*4701A>T (n.*4701A>T)
n.71A>T
c.1231A>T (p.Thr411Ser)
c.5-7045A>T (n.5-7045A>T)
c.391A>T (p.Thr131Ser)
c.-98-20806A>T (n.-98-20806A>T)
n.5054A>T
n.5095A>T
 ClinVar dbSNP
17g.43070996T>CCA10591685BRCA1c.4915A>G (p.Thr1639Ala)
c.4918A>G (p.Thr1640Ala)
c.4792A>G (p.Thr1598Ala)
c.4912A>G (p.Thr1638Ala)
c.4840A>G (p.Thr1614Ala)
c.1606A>G (p.Thr536Ala)
c.1468A>G (p.Thr490Ala)
c.4030A>G (p.Thr1344Ala)
c.4795A>G (p.Thr1599Ala)
c.4984A>G (p.Thr1662Ala)
c.4777A>G (p.Thr1593Ala)
c.1480A>G (p.Thr494Ala)
c.1525A>G (p.Thr509Ala)
c.4981A>G (p.Thr1661Ala)
c.1305A>G
c.1492A>G (p.Thr498Ala)
c.*4701A>G (n.*4701A>G)
n.71A>G
c.1231A>G (p.Thr411Ala)
c.5-7045A>G (n.5-7045A>G)
c.391A>G (p.Thr131Ala)
c.-98-20806A>G (n.-98-20806A>G)
n.5054A>G
n.5095A>G
 ClinVar dbSNP
17g.43070996T>GCA10591686BRCA1c.4915A>C (p.Thr1639Pro)
c.4918A>C (p.Thr1640Pro)
c.4792A>C (p.Thr1598Pro)
c.4912A>C (p.Thr1638Pro)
c.4840A>C (p.Thr1614Pro)
c.1606A>C (p.Thr536Pro)
c.1468A>C (p.Thr490Pro)
c.4030A>C (p.Thr1344Pro)
c.4795A>C (p.Thr1599Pro)
c.4984A>C (p.Thr1662Pro)
c.4777A>C (p.Thr1593Pro)
c.1480A>C (p.Thr494Pro)
c.1525A>C (p.Thr509Pro)
c.4981A>C (p.Thr1661Pro)
c.1305A>C
c.1492A>C (p.Thr498Pro)
c.*4701A>C (n.*4701A>C)
n.71A>C
c.1231A>C (p.Thr411Pro)
c.5-7045A>C (n.5-7045A>C)
c.391A>C (p.Thr131Pro)
c.-98-20806A>C (n.-98-20806A>C)
n.5054A>C
n.5095A>C
 ClinVar dbSNP
17g.43070996T=CA2260772815BRCA1c.4915A= (p.Thr1639=)
c.4918A= (p.Thr1640=)
c.4792A= (p.Thr1598=)
c.4912A= (p.Thr1638=)
c.4840A= (p.Thr1614=)
c.1606A= (p.Thr536=)
c.1468A= (p.Thr490=)
c.4030A= (p.Thr1344=)
c.4795A= (p.Thr1599=)
c.4984A= (p.Thr1662=)
c.4777A= (p.Thr1593=)
c.1480A= (p.Thr494=)
c.1525A= (p.Thr509=)
c.4981A= (p.Thr1661=)
c.1305A=
c.1492A= (p.Thr498=)
c.*4701A= (n.*4701A=)
n.71A=
c.1231A= (p.Thr411=)
c.5-7045A= (n.5-7045A=)
c.391A= (p.Thr131=)
c.-98-20806A= (n.-98-20806A=)
n.5054A=
n.5095A=
17g.43070997C>ACA10591687BRCA1c.4914G>T (p.Leu1638Phe)
c.4917G>T (p.Leu1639Phe)
c.4791G>T (p.Leu1597Phe)
c.4911G>T (p.Leu1637Phe)
c.4839G>T (p.Leu1613Phe)
c.1605G>T (p.Leu535Phe)
c.1467G>T (p.Leu489Phe)
c.4029G>T (p.Leu1343Phe)
c.4794G>T (p.Leu1598Phe)
c.4983G>T (p.Leu1661Phe)
c.4776G>T (p.Leu1592Phe)
c.1479G>T (p.Leu493Phe)
c.1524G>T (p.Leu508Phe)
c.4980G>T (p.Leu1660Phe)
c.1304G>T
c.1491G>T (p.Leu497Phe)
c.*4700G>T (n.*4700G>T)
n.70G>T
c.1230G>T (p.Leu410Phe)
c.5-7046G>T (n.5-7046G>T)
c.390G>T (p.Leu130Phe)
c.-98-20807G>T (n.-98-20807G>T)
n.5053G>T
n.5094G>T
 ClinVar dbSNP
17g.43070997C=CA2260772816BRCA1c.4914G= (p.Leu1638=)
c.4917G= (p.Leu1639=)
c.4791G= (p.Leu1597=)
c.4911G= (p.Leu1637=)
c.4839G= (p.Leu1613=)
c.1605G= (p.Leu535=)
c.1467G= (p.Leu489=)
c.4029G= (p.Leu1343=)
c.4794G= (p.Leu1598=)
c.4983G= (p.Leu1661=)
c.4776G= (p.Leu1592=)
c.1479G= (p.Leu493=)
c.1524G= (p.Leu508=)
c.4980G= (p.Leu1660=)
c.1304G=
c.1491G= (p.Leu497=)
c.*4700G= (n.*4700G=)
n.70G=
c.1230G= (p.Leu410=)
c.5-7046G= (n.5-7046G=)
c.390G= (p.Leu130=)
c.-98-20807G= (n.-98-20807G=)
n.5053G=
n.5094G=
17g.43070997C>GCA10591688BRCA1c.4914G>C (p.Leu1638Phe)
c.4917G>C (p.Leu1639Phe)
c.4791G>C (p.Leu1597Phe)
c.4911G>C (p.Leu1637Phe)
c.4839G>C (p.Leu1613Phe)
c.1605G>C (p.Leu535Phe)
c.1467G>C (p.Leu489Phe)
c.4029G>C (p.Leu1343Phe)
c.4794G>C (p.Leu1598Phe)
c.4983G>C (p.Leu1661Phe)
c.4776G>C (p.Leu1592Phe)
c.1479G>C (p.Leu493Phe)
c.1524G>C (p.Leu508Phe)
c.4980G>C (p.Leu1660Phe)
c.1304G>C
c.1491G>C (p.Leu497Phe)
c.*4700G>C (n.*4700G>C)
n.70G>C
c.1230G>C (p.Leu410Phe)
c.5-7046G>C (n.5-7046G>C)
c.390G>C (p.Leu130Phe)
c.-98-20807G>C (n.-98-20807G>C)
n.5053G>C
n.5094G>C
 ClinVar dbSNP gnomAD v4
17g.43070997C>TCA16615754BRCA1c.4914G>A (p.Leu1638=)
c.4917G>A (p.Leu1639=)
c.4791G>A (p.Leu1597=)
c.4911G>A (p.Leu1637=)
c.4839G>A (p.Leu1613=)
c.1605G>A (p.Leu535=)
c.1467G>A (p.Leu489=)
c.4029G>A (p.Leu1343=)
c.4794G>A (p.Leu1598=)
c.4983G>A (p.Leu1661=)
c.4776G>A (p.Leu1592=)
c.1479G>A (p.Leu493=)
c.1524G>A (p.Leu508=)
c.4980G>A (p.Leu1660=)
c.1304G>A
c.1491G>A (p.Leu497=)
c.*4700G>A (n.*4700G>A)
n.70G>A
c.1230G>A (p.Leu410=)
c.5-7046G>A (n.5-7046G>A)
c.390G>A (p.Leu130=)
c.-98-20807G>A (n.-98-20807G>A)
n.5053G>A
n.5094G>A
 ClinVar dbSNP
17g.43070998A=CA2260772817BRCA1c.4913T= (p.Leu1638=)
c.4916T= (p.Leu1639=)
c.4790T= (p.Leu1597=)
c.4910T= (p.Leu1637=)
c.4838T= (p.Leu1613=)
c.1604T= (p.Leu535=)
c.1466T= (p.Leu489=)
c.4028T= (p.Leu1343=)
c.4793T= (p.Leu1598=)
c.4982T= (p.Leu1661=)
c.4775T= (p.Leu1592=)
c.1478T= (p.Leu493=)
c.1523T= (p.Leu508=)
c.4979T= (p.Leu1660=)
c.1303T=
c.1490T= (p.Leu497=)
c.*4699T= (n.*4699T=)
n.69T=
c.1229T= (p.Leu410=)
c.5-7047T= (n.5-7047T=)
c.389T= (p.Leu130=)
c.-98-20808T= (n.-98-20808T=)
n.5052T=
n.5093T=
17g.43070998A>CCA10591689BRCA1c.4913T>G (p.Leu1638Trp)
c.4916T>G (p.Leu1639Trp)
c.4790T>G (p.Leu1597Trp)
c.4910T>G (p.Leu1637Trp)
c.4838T>G (p.Leu1613Trp)
c.1604T>G (p.Leu535Trp)
c.1466T>G (p.Leu489Trp)
c.4028T>G (p.Leu1343Trp)
c.4793T>G (p.Leu1598Trp)
c.4982T>G (p.Leu1661Trp)
c.4775T>G (p.Leu1592Trp)
c.1478T>G (p.Leu493Trp)
c.1523T>G (p.Leu508Trp)
c.4979T>G (p.Leu1660Trp)
c.1303T>G
c.1490T>G (p.Leu497Trp)
c.*4699T>G (n.*4699T>G)
n.69T>G
c.1229T>G (p.Leu410Trp)
c.5-7047T>G (n.5-7047T>G)
c.389T>G (p.Leu130Trp)
c.-98-20808T>G (n.-98-20808T>G)
n.5052T>G
n.5093T>G
 ClinVar dbSNP
17g.43070998A>GCA10591690BRCA1c.4913T>C (p.Leu1638Ser)
c.4916T>C (p.Leu1639Ser)
c.4790T>C (p.Leu1597Ser)
c.4910T>C (p.Leu1637Ser)
c.4838T>C (p.Leu1613Ser)
c.1604T>C (p.Leu535Ser)
c.1466T>C (p.Leu489Ser)
c.4028T>C (p.Leu1343Ser)
c.4793T>C (p.Leu1598Ser)
c.4982T>C (p.Leu1661Ser)
c.4775T>C (p.Leu1592Ser)
c.1478T>C (p.Leu493Ser)
c.1523T>C (p.Leu508Ser)
c.4979T>C (p.Leu1660Ser)
c.1303T>C
c.1490T>C (p.Leu497Ser)
c.*4699T>C (n.*4699T>C)
n.69T>C
c.1229T>C (p.Leu410Ser)
c.5-7047T>C (n.5-7047T>C)
c.389T>C (p.Leu130Ser)
c.-98-20808T>C (n.-98-20808T>C)
n.5052T>C
n.5093T>C
 ClinVar dbSNP
17g.43070998A>TCA10591691BRCA1c.4913T>A (p.Leu1638Ter)
c.4916T>A (p.Leu1639Ter)
c.4790T>A (p.Leu1597Ter)
c.4910T>A (p.Leu1637Ter)
c.4838T>A (p.Leu1613Ter)
c.1604T>A (p.Leu535Ter)
c.1466T>A (p.Leu489Ter)
c.4028T>A (p.Leu1343Ter)
c.4793T>A (p.Leu1598Ter)
c.4982T>A (p.Leu1661Ter)
c.4775T>A (p.Leu1592Ter)
c.1478T>A (p.Leu493Ter)
c.1523T>A (p.Leu508Ter)
c.4979T>A (p.Leu1660Ter)
c.1303T>A
c.1490T>A (p.Leu497Ter)
c.*4699T>A (n.*4699T>A)
n.69T>A
c.1229T>A (p.Leu410Ter)
c.5-7047T>A (n.5-7047T>A)
c.389T>A (p.Leu130Ter)
c.-98-20808T>A (n.-98-20808T>A)
n.5052T>A
n.5093T>A
 ClinVar dbSNP
17g.43070999A=CA2260772818BRCA1c.4912T= (p.Leu1638=)
c.4915T= (p.Leu1639=)
c.4789T= (p.Leu1597=)
c.4909T= (p.Leu1637=)
c.4837T= (p.Leu1613=)
c.1603T= (p.Leu535=)
c.1465T= (p.Leu489=)
c.4027T= (p.Leu1343=)
c.4792T= (p.Leu1598=)
c.4981T= (p.Leu1661=)
c.4774T= (p.Leu1592=)
c.1477T= (p.Leu493=)
c.1522T= (p.Leu508=)
c.4978T= (p.Leu1660=)
c.1302T=
c.1489T= (p.Leu497=)
c.*4698T= (n.*4698T=)
n.68T=
c.1228T= (p.Leu410=)
c.5-7048T= (n.5-7048T=)
c.388T= (p.Leu130=)
c.-98-20809T= (n.-98-20809T=)
n.5051T=
n.5092T=
17g.43070999A>CCA10591692BRCA1c.4912T>G (p.Leu1638Val)
c.4915T>G (p.Leu1639Val)
c.4789T>G (p.Leu1597Val)
c.4909T>G (p.Leu1637Val)
c.4837T>G (p.Leu1613Val)
c.1603T>G (p.Leu535Val)
c.1465T>G (p.Leu489Val)
c.4027T>G (p.Leu1343Val)
c.4792T>G (p.Leu1598Val)
c.4981T>G (p.Leu1661Val)
c.4774T>G (p.Leu1592Val)
c.1477T>G (p.Leu493Val)
c.1522T>G (p.Leu508Val)
c.4978T>G (p.Leu1660Val)
c.1302T>G
c.1489T>G (p.Leu497Val)
c.*4698T>G (n.*4698T>G)
n.68T>G
c.1228T>G (p.Leu410Val)
c.5-7048T>G (n.5-7048T>G)
c.388T>G (p.Leu130Val)
c.-98-20809T>G (n.-98-20809T>G)
n.5051T>G
n.5092T>G
 ClinVar dbSNP
17g.43070999A>GCA500231674BRCA1c.4912T>C (p.Leu1638=)
c.4915T>C (p.Leu1639=)
c.4789T>C (p.Leu1597=)
c.4909T>C (p.Leu1637=)
c.4837T>C (p.Leu1613=)
c.1603T>C (p.Leu535=)
c.1465T>C (p.Leu489=)
c.4027T>C (p.Leu1343=)
c.4792T>C (p.Leu1598=)
c.4981T>C (p.Leu1661=)
c.4774T>C (p.Leu1592=)
c.1477T>C (p.Leu493=)
c.1522T>C (p.Leu508=)
c.4978T>C (p.Leu1660=)
c.1302T>C
c.1489T>C (p.Leu497=)
c.*4698T>C (n.*4698T>C)
n.68T>C
c.1228T>C (p.Leu410=)
c.5-7048T>C (n.5-7048T>C)
c.388T>C (p.Leu130=)
c.-98-20809T>C (n.-98-20809T>C)
n.5051T>C
n.5092T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43070999A>TCA10591693BRCA1c.4912T>A (p.Leu1638Met)
c.4915T>A (p.Leu1639Met)
c.4789T>A (p.Leu1597Met)
c.4909T>A (p.Leu1637Met)
c.4837T>A (p.Leu1613Met)
c.1603T>A (p.Leu535Met)
c.1465T>A (p.Leu489Met)
c.4027T>A (p.Leu1343Met)
c.4792T>A (p.Leu1598Met)
c.4981T>A (p.Leu1661Met)
c.4774T>A (p.Leu1592Met)
c.1477T>A (p.Leu493Met)
c.1522T>A (p.Leu508Met)
c.4978T>A (p.Leu1660Met)
c.1302T>A
c.1489T>A (p.Leu497Met)
c.*4698T>A (n.*4698T>A)
n.68T>A
c.1228T>A (p.Leu410Met)
c.5-7048T>A (n.5-7048T>A)
c.388T>A (p.Leu130Met)
c.-98-20809T>A (n.-98-20809T>A)
n.5051T>A
n.5092T>A
 ClinVar dbSNP
17g.43071000T>ACA10591694BRCA1c.4911A>T (p.Glu1637Asp)
c.4914A>T (p.Glu1638Asp)
c.4788A>T (p.Glu1596Asp)
c.4908A>T (p.Glu1636Asp)
c.4836A>T (p.Glu1612Asp)
c.1602A>T (p.Glu534Asp)
c.1464A>T (p.Glu488Asp)
c.4026A>T (p.Glu1342Asp)
c.4791A>T (p.Glu1597Asp)
c.4980A>T (p.Glu1660Asp)
c.4773A>T (p.Glu1591Asp)
c.1476A>T (p.Glu492Asp)
c.1521A>T (p.Glu507Asp)
c.4977A>T (p.Glu1659Asp)
c.1301A>T
c.1488A>T (p.Glu496Asp)
c.*4697A>T (n.*4697A>T)
n.67A>T
c.1227A>T (p.Glu409Asp)
c.5-7049A>T (n.5-7049A>T)
c.387A>T (p.Glu129Asp)
c.-98-20810A>T (n.-98-20810A>T)
n.5050A>T
n.5091A>T
 ClinVar dbSNP
17g.43071000T>CCA003078BRCA1c.4911A>G (p.Glu1637=)
c.4914A>G (p.Glu1638=)
c.4788A>G (p.Glu1596=)
c.4908A>G (p.Glu1636=)
c.4836A>G (p.Glu1612=)
c.1602A>G (p.Glu534=)
c.1464A>G (p.Glu488=)
c.4026A>G (p.Glu1342=)
c.4791A>G (p.Glu1597=)
c.4980A>G (p.Glu1660=)
c.4773A>G (p.Glu1591=)
c.1476A>G (p.Glu492=)
c.1521A>G (p.Glu507=)
c.4977A>G (p.Glu1659=)
c.1301A>G
c.1488A>G (p.Glu496=)
c.*4697A>G (n.*4697A>G)
n.67A>G
c.1227A>G (p.Glu409=)
c.5-7049A>G (n.5-7049A>G)
c.387A>G (p.Glu129=)
c.-98-20810A>G (n.-98-20810A>G)
n.5050A>G
n.5091A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43071000T>GCA10591695BRCA1c.4911A>C (p.Glu1637Asp)
c.4914A>C (p.Glu1638Asp)
c.4788A>C (p.Glu1596Asp)
c.4908A>C (p.Glu1636Asp)
c.4836A>C (p.Glu1612Asp)
c.1602A>C (p.Glu534Asp)
c.1464A>C (p.Glu488Asp)
c.4026A>C (p.Glu1342Asp)
c.4791A>C (p.Glu1597Asp)
c.4980A>C (p.Glu1660Asp)
c.4773A>C (p.Glu1591Asp)
c.1476A>C (p.Glu492Asp)
c.1521A>C (p.Glu507Asp)
c.4977A>C (p.Glu1659Asp)
c.1301A>C
c.1488A>C (p.Glu496Asp)
c.*4697A>C (n.*4697A>C)
n.67A>C
c.1227A>C (p.Glu409Asp)
c.5-7049A>C (n.5-7049A>C)
c.387A>C (p.Glu129Asp)
c.-98-20810A>C (n.-98-20810A>C)
n.5050A>C
n.5091A>C
 ClinVar dbSNP COSMIC COSMIC
17g.43071000T=CA2260772819BRCA1c.4911A= (p.Glu1637=)
c.4914A= (p.Glu1638=)
c.4788A= (p.Glu1596=)
c.4908A= (p.Glu1636=)
c.4836A= (p.Glu1612=)
c.1602A= (p.Glu534=)
c.1464A= (p.Glu488=)
c.4026A= (p.Glu1342=)
c.4791A= (p.Glu1597=)
c.4980A= (p.Glu1660=)
c.4773A= (p.Glu1591=)
c.1476A= (p.Glu492=)
c.1521A= (p.Glu507=)
c.4977A= (p.Glu1659=)
c.1301A=
c.1488A= (p.Glu496=)
c.*4697A= (n.*4697A=)
n.67A=
c.1227A= (p.Glu409=)
c.5-7049A= (n.5-7049A=)
c.387A= (p.Glu129=)
c.-98-20810A= (n.-98-20810A=)
n.5050A=
n.5091A=
17g.43071001T>ACA10591696BRCA1c.4910A>T (p.Glu1637Val)
c.4913A>T (p.Glu1638Val)
c.4787A>T (p.Glu1596Val)
c.4907A>T (p.Glu1636Val)
c.4835A>T (p.Glu1612Val)
c.1601A>T (p.Glu534Val)
c.1463A>T (p.Glu488Val)
c.4025A>T (p.Glu1342Val)
c.4790A>T (p.Glu1597Val)
c.4979A>T (p.Glu1660Val)
c.4772A>T (p.Glu1591Val)
c.1475A>T (p.Glu492Val)
c.1520A>T (p.Glu507Val)
c.4976A>T (p.Glu1659Val)
c.1300A>T
c.1487A>T (p.Glu496Val)
c.*4696A>T (n.*4696A>T)
n.66A>T
c.1226A>T (p.Glu409Val)
c.5-7050A>T (n.5-7050A>T)
c.386A>T (p.Glu129Val)
c.-98-20811A>T (n.-98-20811A>T)
n.5049A>T
n.5090A>T
 ClinVar dbSNP
17g.43071001T>CCA10591697BRCA1c.4910A>G (p.Glu1637Gly)
c.4913A>G (p.Glu1638Gly)
c.4787A>G (p.Glu1596Gly)
c.4907A>G (p.Glu1636Gly)
c.4835A>G (p.Glu1612Gly)
c.1601A>G (p.Glu534Gly)
c.1463A>G (p.Glu488Gly)
c.4025A>G (p.Glu1342Gly)
c.4790A>G (p.Glu1597Gly)
c.4979A>G (p.Glu1660Gly)
c.4772A>G (p.Glu1591Gly)
c.1475A>G (p.Glu492Gly)
c.1520A>G (p.Glu507Gly)
c.4976A>G (p.Glu1659Gly)
c.1300A>G
c.1487A>G (p.Glu496Gly)
c.*4696A>G (n.*4696A>G)
n.66A>G
c.1226A>G (p.Glu409Gly)
c.5-7050A>G (n.5-7050A>G)
c.386A>G (p.Glu129Gly)
c.-98-20811A>G (n.-98-20811A>G)
n.5049A>G
n.5090A>G
 ClinVar dbSNP gnomAD v4
17g.43071001T>GCA10591698BRCA1c.4910A>C (p.Glu1637Ala)
c.4913A>C (p.Glu1638Ala)
c.4787A>C (p.Glu1596Ala)
c.4907A>C (p.Glu1636Ala)
c.4835A>C (p.Glu1612Ala)
c.1601A>C (p.Glu534Ala)
c.1463A>C (p.Glu488Ala)
c.4025A>C (p.Glu1342Ala)
c.4790A>C (p.Glu1597Ala)
c.4979A>C (p.Glu1660Ala)
c.4772A>C (p.Glu1591Ala)
c.1475A>C (p.Glu492Ala)
c.1520A>C (p.Glu507Ala)
c.4976A>C (p.Glu1659Ala)
c.1300A>C
c.1487A>C (p.Glu496Ala)
c.*4696A>C (n.*4696A>C)
n.66A>C
c.1226A>C (p.Glu409Ala)
c.5-7050A>C (n.5-7050A>C)
c.386A>C (p.Glu129Ala)
c.-98-20811A>C (n.-98-20811A>C)
n.5049A>C
n.5090A>C
 ClinVar dbSNP
17g.43071001T=CA2260772820BRCA1c.4910A= (p.Glu1637=)
c.4913A= (p.Glu1638=)
c.4787A= (p.Glu1596=)
c.4907A= (p.Glu1636=)
c.4835A= (p.Glu1612=)
c.1601A= (p.Glu534=)
c.1463A= (p.Glu488=)
c.4025A= (p.Glu1342=)
c.4790A= (p.Glu1597=)
c.4979A= (p.Glu1660=)
c.4772A= (p.Glu1591=)
c.1475A= (p.Glu492=)
c.1520A= (p.Glu507=)
c.4976A= (p.Glu1659=)
c.1300A=
c.1487A= (p.Glu496=)
c.*4696A= (n.*4696A=)
n.66A=
c.1226A= (p.Glu409=)
c.5-7050A= (n.5-7050A=)
c.386A= (p.Glu129=)
c.-98-20811A= (n.-98-20811A=)
n.5049A=
n.5090A=
17g.43071002C>ACA10591699BRCA1c.4909G>T (p.Glu1637Ter)
c.4912G>T (p.Glu1638Ter)
c.4786G>T (p.Glu1596Ter)
c.4906G>T (p.Glu1636Ter)
c.4834G>T (p.Glu1612Ter)
c.1600G>T (p.Glu534Ter)
c.1462G>T (p.Glu488Ter)
c.4024G>T (p.Glu1342Ter)
c.4789G>T (p.Glu1597Ter)
c.4978G>T (p.Glu1660Ter)
c.4771G>T (p.Glu1591Ter)
c.1474G>T (p.Glu492Ter)
c.1519G>T (p.Glu507Ter)
c.4975G>T (p.Glu1659Ter)
c.1299G>T
c.1486G>T (p.Glu496Ter)
c.*4695G>T (n.*4695G>T)
n.65G>T
c.1225G>T (p.Glu409Ter)
c.5-7051G>T (n.5-7051G>T)
c.385G>T (p.Glu129Ter)
c.-98-20812G>T (n.-98-20812G>T)
n.5048G>T
n.5089G>T
 ClinVar dbSNP
17g.43071002C=CA2260772821BRCA1c.4909G= (p.Glu1637=)
c.4912G= (p.Glu1638=)
c.4786G= (p.Glu1596=)
c.4906G= (p.Glu1636=)
c.4834G= (p.Glu1612=)
c.1600G= (p.Glu534=)
c.1462G= (p.Glu488=)
c.4024G= (p.Glu1342=)
c.4789G= (p.Glu1597=)
c.4978G= (p.Glu1660=)
c.4771G= (p.Glu1591=)
c.1474G= (p.Glu492=)
c.1519G= (p.Glu507=)
c.4975G= (p.Glu1659=)
c.1299G=
c.1486G= (p.Glu496=)
c.*4695G= (n.*4695G=)
n.65G=
c.1225G= (p.Glu409=)
c.5-7051G= (n.5-7051G=)
c.385G= (p.Glu129=)
c.-98-20812G= (n.-98-20812G=)
n.5048G=
n.5089G=
17g.43071002C>GCA10591700BRCA1c.4909G>C (p.Glu1637Gln)
c.4912G>C (p.Glu1638Gln)
c.4786G>C (p.Glu1596Gln)
c.4906G>C (p.Glu1636Gln)
c.4834G>C (p.Glu1612Gln)
c.1600G>C (p.Glu534Gln)
c.1462G>C (p.Glu488Gln)
c.4024G>C (p.Glu1342Gln)
c.4789G>C (p.Glu1597Gln)
c.4978G>C (p.Glu1660Gln)
c.4771G>C (p.Glu1591Gln)
c.1474G>C (p.Glu492Gln)
c.1519G>C (p.Glu507Gln)
c.4975G>C (p.Glu1659Gln)
c.1299G>C
c.1486G>C (p.Glu496Gln)
c.*4695G>C (n.*4695G>C)
n.65G>C
c.1225G>C (p.Glu409Gln)
c.5-7051G>C (n.5-7051G>C)
c.385G>C (p.Glu129Gln)
c.-98-20812G>C (n.-98-20812G>C)
n.5048G>C
n.5089G>C
 ClinVar dbSNP
17g.43071002C>TCA10591701BRCA1c.4909G>A (p.Glu1637Lys)
c.4912G>A (p.Glu1638Lys)
c.4786G>A (p.Glu1596Lys)
c.4906G>A (p.Glu1636Lys)
c.4834G>A (p.Glu1612Lys)
c.1600G>A (p.Glu534Lys)
c.1462G>A (p.Glu488Lys)
c.4024G>A (p.Glu1342Lys)
c.4789G>A (p.Glu1597Lys)
c.4978G>A (p.Glu1660Lys)
c.4771G>A (p.Glu1591Lys)
c.1474G>A (p.Glu492Lys)
c.1519G>A (p.Glu507Lys)
c.4975G>A (p.Glu1659Lys)
c.1299G>A
c.1486G>A (p.Glu496Lys)
c.*4695G>A (n.*4695G>A)
n.65G>A
c.1225G>A (p.Glu409Lys)
c.5-7051G>A (n.5-7051G>A)
c.385G>A (p.Glu129Lys)
c.-98-20812G>A (n.-98-20812G>A)
n.5048G>A
n.5089G>A
 ClinVar dbSNP
17g.43071003T>ACA500231677BRCA1c.4908A>T (p.Pro1636=)
c.4911A>T (p.Pro1637=)
c.4785A>T (p.Pro1595=)
c.4905A>T (p.Pro1635=)
c.4833A>T (p.Pro1611=)
c.1599A>T (p.Pro533=)
c.1461A>T (p.Pro487=)
c.4023A>T (p.Pro1341=)
c.4788A>T (p.Pro1596=)
c.4977A>T (p.Pro1659=)
c.4770A>T (p.Pro1590=)
c.1473A>T (p.Pro491=)
c.1518A>T (p.Pro506=)
c.4974A>T (p.Pro1658=)
c.1298A>T
c.1485A>T (p.Pro495=)
c.*4694A>T (n.*4694A>T)
n.64A>T
c.1224A>T (p.Pro408=)
c.5-7052A>T (n.5-7052A>T)
c.384A>T (p.Pro128=)
c.-98-20813A>T (n.-98-20813A>T)
n.5047A>T
n.5088A>T
 ClinVar dbSNP
17g.43071003T>CCA500231678BRCA1c.4908A>G (p.Pro1636=)
c.4911A>G (p.Pro1637=)
c.4785A>G (p.Pro1595=)
c.4905A>G (p.Pro1635=)
c.4833A>G (p.Pro1611=)
c.1599A>G (p.Pro533=)
c.1461A>G (p.Pro487=)
c.4023A>G (p.Pro1341=)
c.4788A>G (p.Pro1596=)
c.4977A>G (p.Pro1659=)
c.4770A>G (p.Pro1590=)
c.1473A>G (p.Pro491=)
c.1518A>G (p.Pro506=)
c.4974A>G (p.Pro1658=)
c.1298A>G
c.1485A>G (p.Pro495=)
c.*4694A>G (n.*4694A>G)
n.64A>G
c.1224A>G (p.Pro408=)
c.5-7052A>G (n.5-7052A>G)
c.384A>G (p.Pro128=)
c.-98-20813A>G (n.-98-20813A>G)
n.5047A>G
n.5088A>G
 ClinVar dbSNP COSMIC COSMIC
17g.43071003T>GCA500231679BRCA1c.4908A>C (p.Pro1636=)
c.4911A>C (p.Pro1637=)
c.4785A>C (p.Pro1595=)
c.4905A>C (p.Pro1635=)
c.4833A>C (p.Pro1611=)
c.1599A>C (p.Pro533=)
c.1461A>C (p.Pro487=)
c.4023A>C (p.Pro1341=)
c.4788A>C (p.Pro1596=)
c.4977A>C (p.Pro1659=)
c.4770A>C (p.Pro1590=)
c.1473A>C (p.Pro491=)
c.1518A>C (p.Pro506=)
c.4974A>C (p.Pro1658=)
c.1298A>C
c.1485A>C (p.Pro495=)
c.*4694A>C (n.*4694A>C)
n.64A>C
c.1224A>C (p.Pro408=)
c.5-7052A>C (n.5-7052A>C)
c.384A>C (p.Pro128=)
c.-98-20813A>C (n.-98-20813A>C)
n.5047A>C
n.5088A>C
 ClinVar dbSNP
17g.43071003T=CA2260772823BRCA1c.4908A= (p.Pro1636=)
c.4911A= (p.Pro1637=)
c.4785A= (p.Pro1595=)
c.4905A= (p.Pro1635=)
c.4833A= (p.Pro1611=)
c.1599A= (p.Pro533=)
c.1461A= (p.Pro487=)
c.4023A= (p.Pro1341=)
c.4788A= (p.Pro1596=)
c.4977A= (p.Pro1659=)
c.4770A= (p.Pro1590=)
c.1473A= (p.Pro491=)
c.1518A= (p.Pro506=)
c.4974A= (p.Pro1658=)
c.1298A=
c.1485A= (p.Pro495=)
c.*4694A= (n.*4694A=)
n.64A=
c.1224A= (p.Pro408=)
c.5-7052A= (n.5-7052A=)
c.384A= (p.Pro128=)
c.-98-20813A= (n.-98-20813A=)
n.5047A=
n.5088A=
17g.43071003_43071004delinsTGCA2260772822BRCA1c.4907_4908delinsCA (p.Pro1636=)
c.4910_4911delinsCA (p.Pro1637=)
c.4784_4785delinsCA (p.Pro1595=)
c.4904_4905delinsCA (p.Pro1635=)
c.4832_4833delinsCA (p.Pro1611=)
c.1598_1599delinsCA (p.Pro533=)
c.1460_1461delinsCA (p.Pro487=)
c.4022_4023delinsCA (p.Pro1341=)
c.4787_4788delinsCA (p.Pro1596=)
c.4976_4977delinsCA (p.Pro1659=)
c.4769_4770delinsCA (p.Pro1590=)
c.1472_1473delinsCA (p.Pro491=)
c.1517_1518delinsCA (p.Pro506=)
c.4973_4974delinsCA (p.Pro1658=)
c.1297_1298delinsCA
c.1484_1485delinsCA (p.Pro495=)
c.*4693_*4694delinsCA (n.*4693_*4694delinsCA)
n.63_64delinsCA
c.1223_1224delinsCA (p.Pro408=)
c.5-7053_5-7052delinsCA (n.5-7053_5-7052delinsCA)
c.383_384delinsCA (p.Pro128=)
c.-98-20814_-98-20813delinsCA (n.-98-20814_-98-20813delinsCA)
n.5046_5047delinsCA
n.5087_5088delinsCA
17g.43071004G>ACA003076BRCA1c.4907C>T (p.Pro1636Leu)
c.4910C>T (p.Pro1637Leu)
c.4784C>T (p.Pro1595Leu)
c.4904C>T (p.Pro1635Leu)
c.4832C>T (p.Pro1611Leu)
c.1598C>T (p.Pro533Leu)
c.1460C>T (p.Pro487Leu)
c.4022C>T (p.Pro1341Leu)
c.4787C>T (p.Pro1596Leu)
c.4976C>T (p.Pro1659Leu)
c.4769C>T (p.Pro1590Leu)
c.1472C>T (p.Pro491Leu)
c.1517C>T (p.Pro506Leu)
c.4973C>T (p.Pro1658Leu)
c.1297C>T
c.1484C>T (p.Pro495Leu)
c.*4693C>T (n.*4693C>T)
n.63C>T
c.1223C>T (p.Pro408Leu)
c.5-7053C>T (n.5-7053C>T)
c.383C>T (p.Pro128Leu)
c.-98-20814C>T (n.-98-20814C>T)
n.5046C>T
n.5087C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43071004G>CCA10591702BRCA1c.4907C>G (p.Pro1636Arg)
c.4910C>G (p.Pro1637Arg)
c.4784C>G (p.Pro1595Arg)
c.4904C>G (p.Pro1635Arg)
c.4832C>G (p.Pro1611Arg)
c.1598C>G (p.Pro533Arg)
c.1460C>G (p.Pro487Arg)
c.4022C>G (p.Pro1341Arg)
c.4787C>G (p.Pro1596Arg)
c.4976C>G (p.Pro1659Arg)
c.4769C>G (p.Pro1590Arg)
c.1472C>G (p.Pro491Arg)
c.1517C>G (p.Pro506Arg)
c.4973C>G (p.Pro1658Arg)
c.1297C>G
c.1484C>G (p.Pro495Arg)
c.*4693C>G (n.*4693C>G)
n.63C>G
c.1223C>G (p.Pro408Arg)
c.5-7053C>G (n.5-7053C>G)
c.383C>G (p.Pro128Arg)
c.-98-20814C>G (n.-98-20814C>G)
n.5046C>G
n.5087C>G
 ClinVar dbSNP
17g.43071004G=CA2260772824BRCA1c.4907C= (p.Pro1636=)
c.4910C= (p.Pro1637=)
c.4784C= (p.Pro1595=)
c.4904C= (p.Pro1635=)
c.4832C= (p.Pro1611=)
c.1598C= (p.Pro533=)
c.1460C= (p.Pro487=)
c.4022C= (p.Pro1341=)
c.4787C= (p.Pro1596=)
c.4976C= (p.Pro1659=)
c.4769C= (p.Pro1590=)
c.1472C= (p.Pro491=)
c.1517C= (p.Pro506=)
c.4973C= (p.Pro1658=)
c.1297C=
c.1484C= (p.Pro495=)
c.*4693C= (n.*4693C=)
n.63C=
c.1223C= (p.Pro408=)
c.5-7053C= (n.5-7053C=)
c.383C= (p.Pro128=)
c.-98-20814C= (n.-98-20814C=)
n.5046C=
n.5087C=
17g.43071004G>TCA10591703BRCA1c.4907C>A (p.Pro1636Gln)
c.4910C>A (p.Pro1637Gln)
c.4784C>A (p.Pro1595Gln)
c.4904C>A (p.Pro1635Gln)
c.4832C>A (p.Pro1611Gln)
c.1598C>A (p.Pro533Gln)
c.1460C>A (p.Pro487Gln)
c.4022C>A (p.Pro1341Gln)
c.4787C>A (p.Pro1596Gln)
c.4976C>A (p.Pro1659Gln)
c.4769C>A (p.Pro1590Gln)
c.1472C>A (p.Pro491Gln)
c.1517C>A (p.Pro506Gln)
c.4973C>A (p.Pro1658Gln)
c.1297C>A
c.1484C>A (p.Pro495Gln)
c.*4693C>A (n.*4693C>A)
n.63C>A
c.1223C>A (p.Pro408Gln)
c.5-7053C>A (n.5-7053C>A)
c.383C>A (p.Pro128Gln)
c.-98-20814C>A (n.-98-20814C>A)
n.5046C>A
n.5087C>A
 ClinVar dbSNP
17g.43071005delCA003077BRCA1c.4907del (p.Pro1636GlnfsTer3)
c.4910del (p.Pro1637GlnfsTer3)
c.4784del (p.Pro1595GlnfsTer3)
c.4904del (p.Pro1635GlnfsTer3)
c.4832del (p.Pro1611GlnfsTer3)
c.1598del (p.Pro533GlnfsTer3)
c.1460del (p.Pro487GlnfsTer3)
c.4022del (p.Pro1341GlnfsTer3)
c.4787del (p.Pro1596GlnfsTer3)
c.4976del (p.Pro1659GlnfsTer3)
c.4769del (p.Pro1590GlnfsTer3)
c.1472del (p.Pro491GlnfsTer3)
c.1517del (p.Pro506GlnfsTer3)
c.4973del (p.Pro1658GlnfsTer3)
c.1297del
c.1484del (p.Pro495GlnfsTer3)
c.*4693del (n.*4693del)
n.63del
c.1223del (p.Pro408GlnfsTer3)
c.5-7053del (n.5-7053del)
c.383del (p.Pro128GlnfsTer3)
c.-98-20814del (n.-98-20814del)
n.5046del
n.5087del
 ClinVar dbSNP
17g.43071005G>ACA10580506BRCA1c.4906C>T (p.Pro1636Ser)
c.4909C>T (p.Pro1637Ser)
c.4783C>T (p.Pro1595Ser)
c.4903C>T (p.Pro1635Ser)
c.4831C>T (p.Pro1611Ser)
c.1597C>T (p.Pro533Ser)
c.1459C>T (p.Pro487Ser)
c.4021C>T (p.Pro1341Ser)
c.4786C>T (p.Pro1596Ser)
c.4975C>T (p.Pro1659Ser)
c.4768C>T (p.Pro1590Ser)
c.1471C>T (p.Pro491Ser)
c.1516C>T (p.Pro506Ser)
c.4972C>T (p.Pro1658Ser)
c.1296C>T
c.1483C>T (p.Pro495Ser)
c.*4692C>T (n.*4692C>T)
n.62C>T
c.1222C>T (p.Pro408Ser)
c.5-7054C>T (n.5-7054C>T)
c.382C>T (p.Pro128Ser)
c.-98-20815C>T (n.-98-20815C>T)
n.5045C>T
n.5086C>T
 ClinVar dbSNP
17g.43071005G>CCA10591704BRCA1c.4906C>G (p.Pro1636Ala)
c.4909C>G (p.Pro1637Ala)
c.4783C>G (p.Pro1595Ala)
c.4903C>G (p.Pro1635Ala)
c.4831C>G (p.Pro1611Ala)
c.1597C>G (p.Pro533Ala)
c.1459C>G (p.Pro487Ala)
c.4021C>G (p.Pro1341Ala)
c.4786C>G (p.Pro1596Ala)
c.4975C>G (p.Pro1659Ala)
c.4768C>G (p.Pro1590Ala)
c.1471C>G (p.Pro491Ala)
c.1516C>G (p.Pro506Ala)
c.4972C>G (p.Pro1658Ala)
c.1296C>G
c.1483C>G (p.Pro495Ala)
c.*4692C>G (n.*4692C>G)
n.62C>G
c.1222C>G (p.Pro408Ala)
c.5-7054C>G (n.5-7054C>G)
c.382C>G (p.Pro128Ala)
c.-98-20815C>G (n.-98-20815C>G)
n.5045C>G
n.5086C>G
 ClinVar dbSNP
17g.43071005G=CA2260772825BRCA1c.4906C= (p.Pro1636=)
c.4909C= (p.Pro1637=)
c.4783C= (p.Pro1595=)
c.4903C= (p.Pro1635=)
c.4831C= (p.Pro1611=)
c.1597C= (p.Pro533=)
c.1459C= (p.Pro487=)
c.4021C= (p.Pro1341=)
c.4786C= (p.Pro1596=)
c.4975C= (p.Pro1659=)
c.4768C= (p.Pro1590=)
c.1471C= (p.Pro491=)
c.1516C= (p.Pro506=)
c.4972C= (p.Pro1658=)
c.1296C=
c.1483C= (p.Pro495=)
c.*4692C= (n.*4692C=)
n.62C=
c.1222C= (p.Pro408=)
c.5-7054C= (n.5-7054C=)
c.382C= (p.Pro128=)
c.-98-20815C= (n.-98-20815C=)
n.5045C=
n.5086C=
17g.43071005G>TCA10591705BRCA1c.4906C>A (p.Pro1636Thr)
c.4909C>A (p.Pro1637Thr)
c.4783C>A (p.Pro1595Thr)
c.4903C>A (p.Pro1635Thr)
c.4831C>A (p.Pro1611Thr)
c.1597C>A (p.Pro533Thr)
c.1459C>A (p.Pro487Thr)
c.4021C>A (p.Pro1341Thr)
c.4786C>A (p.Pro1596Thr)
c.4975C>A (p.Pro1659Thr)
c.4768C>A (p.Pro1590Thr)
c.1471C>A (p.Pro491Thr)
c.1516C>A (p.Pro506Thr)
c.4972C>A (p.Pro1658Thr)
c.1296C>A
c.1483C>A (p.Pro495Thr)
c.*4692C>A (n.*4692C>A)
n.62C>A
c.1222C>A (p.Pro408Thr)
c.5-7054C>A (n.5-7054C>A)
c.382C>A (p.Pro128Thr)
c.-98-20815C>A (n.-98-20815C>A)
n.5045C>A
n.5086C>A
 ClinVar dbSNP
17g.43071006C>ACA10591706BRCA1c.4905G>T (p.Lys1635Asn)
c.4908G>T (p.Lys1636Asn)
c.4782G>T (p.Lys1594Asn)
c.4902G>T (p.Lys1634Asn)
c.4830G>T (p.Lys1610Asn)
c.1596G>T (p.Lys532Asn)
c.1458G>T (p.Lys486Asn)
c.4020G>T (p.Lys1340Asn)
c.4785G>T (p.Lys1595Asn)
c.4974G>T (p.Lys1658Asn)
c.4767G>T (p.Lys1589Asn)
c.1470G>T (p.Lys490Asn)
c.1515G>T (p.Lys505Asn)
c.4971G>T (p.Lys1657Asn)
c.1295G>T
c.1482G>T (p.Lys494Asn)
c.*4691G>T (n.*4691G>T)
n.61G>T
c.1221G>T (p.Lys407Asn)
c.5-7055G>T (n.5-7055G>T)
c.381G>T (p.Lys127Asn)
c.-98-20816G>T (n.-98-20816G>T)
n.5044G>T
n.5085G>T
 ClinVar dbSNP
17g.43071006C=CA2260772826BRCA1c.4905G= (p.Lys1635=)
c.4908G= (p.Lys1636=)
c.4782G= (p.Lys1594=)
c.4902G= (p.Lys1634=)
c.4830G= (p.Lys1610=)
c.1596G= (p.Lys532=)
c.1458G= (p.Lys486=)
c.4020G= (p.Lys1340=)
c.4785G= (p.Lys1595=)
c.4974G= (p.Lys1658=)
c.4767G= (p.Lys1589=)
c.1470G= (p.Lys490=)
c.1515G= (p.Lys505=)
c.4971G= (p.Lys1657=)
c.1295G=
c.1482G= (p.Lys494=)
c.*4691G= (n.*4691G=)
n.61G=
c.1221G= (p.Lys407=)
c.5-7055G= (n.5-7055G=)
c.381G= (p.Lys127=)
c.-98-20816G= (n.-98-20816G=)
n.5044G=
n.5085G=
17g.43071006C>GCA10591707BRCA1c.4905G>C (p.Lys1635Asn)
c.4908G>C (p.Lys1636Asn)
c.4782G>C (p.Lys1594Asn)
c.4902G>C (p.Lys1634Asn)
c.4830G>C (p.Lys1610Asn)
c.1596G>C (p.Lys532Asn)
c.1458G>C (p.Lys486Asn)
c.4020G>C (p.Lys1340Asn)
c.4785G>C (p.Lys1595Asn)
c.4974G>C (p.Lys1658Asn)
c.4767G>C (p.Lys1589Asn)
c.1470G>C (p.Lys490Asn)
c.1515G>C (p.Lys505Asn)
c.4971G>C (p.Lys1657Asn)
c.1295G>C
c.1482G>C (p.Lys494Asn)
c.*4691G>C (n.*4691G>C)
n.61G>C
c.1221G>C (p.Lys407Asn)
c.5-7055G>C (n.5-7055G>C)
c.381G>C (p.Lys127Asn)
c.-98-20816G>C (n.-98-20816G>C)
n.5044G>C
n.5085G>C
 ClinVar dbSNP
17g.43071006C>TCA500231688BRCA1c.4905G>A (p.Lys1635=)
c.4908G>A (p.Lys1636=)
c.4782G>A (p.Lys1594=)
c.4902G>A (p.Lys1634=)
c.4830G>A (p.Lys1610=)
c.1596G>A (p.Lys532=)
c.1458G>A (p.Lys486=)
c.4020G>A (p.Lys1340=)
c.4785G>A (p.Lys1595=)
c.4974G>A (p.Lys1658=)
c.4767G>A (p.Lys1589=)
c.1470G>A (p.Lys490=)
c.1515G>A (p.Lys505=)
c.4971G>A (p.Lys1657=)
c.1295G>A
c.1482G>A (p.Lys494=)
c.*4691G>A (n.*4691G>A)
n.61G>A
c.1221G>A (p.Lys407=)
c.5-7055G>A (n.5-7055G>A)
c.381G>A (p.Lys127=)
c.-98-20816G>A (n.-98-20816G>A)
n.5044G>A
n.5085G>A
 ClinVar dbSNP
17g.43071007T>ACA10591708BRCA1c.4904A>T (p.Lys1635Met)
c.4907A>T (p.Lys1636Met)
c.4781A>T (p.Lys1594Met)
c.4901A>T (p.Lys1634Met)
c.4829A>T (p.Lys1610Met)
c.1595A>T (p.Lys532Met)
c.1457A>T (p.Lys486Met)
c.4019A>T (p.Lys1340Met)
c.4784A>T (p.Lys1595Met)
c.4973A>T (p.Lys1658Met)
c.4766A>T (p.Lys1589Met)
c.1469A>T (p.Lys490Met)
c.1514A>T (p.Lys505Met)
c.4970A>T (p.Lys1657Met)
c.1294A>T
c.1481A>T (p.Lys494Met)
c.*4690A>T (n.*4690A>T)
n.60A>T
c.1220A>T (p.Lys407Met)
c.5-7056A>T (n.5-7056A>T)
c.380A>T (p.Lys127Met)
c.-98-20817A>T (n.-98-20817A>T)
n.5043A>T
n.5084A>T
 ClinVar dbSNP
17g.43071007T>CCA10591709BRCA1c.4904A>G (p.Lys1635Arg)
c.4907A>G (p.Lys1636Arg)
c.4781A>G (p.Lys1594Arg)
c.4901A>G (p.Lys1634Arg)
c.4829A>G (p.Lys1610Arg)
c.1595A>G (p.Lys532Arg)
c.1457A>G (p.Lys486Arg)
c.4019A>G (p.Lys1340Arg)
c.4784A>G (p.Lys1595Arg)
c.4973A>G (p.Lys1658Arg)
c.4766A>G (p.Lys1589Arg)
c.1469A>G (p.Lys490Arg)
c.1514A>G (p.Lys505Arg)
c.4970A>G (p.Lys1657Arg)
c.1294A>G
c.1481A>G (p.Lys494Arg)
c.*4690A>G (n.*4690A>G)
n.60A>G
c.1220A>G (p.Lys407Arg)
c.5-7056A>G (n.5-7056A>G)
c.380A>G (p.Lys127Arg)
c.-98-20817A>G (n.-98-20817A>G)
n.5043A>G
n.5084A>G
 ClinVar dbSNP
17g.43071007T>GCA10591710BRCA1c.4904A>C (p.Lys1635Thr)
c.4907A>C (p.Lys1636Thr)
c.4781A>C (p.Lys1594Thr)
c.4901A>C (p.Lys1634Thr)
c.4829A>C (p.Lys1610Thr)
c.1595A>C (p.Lys532Thr)
c.1457A>C (p.Lys486Thr)
c.4019A>C (p.Lys1340Thr)
c.4784A>C (p.Lys1595Thr)
c.4973A>C (p.Lys1658Thr)
c.4766A>C (p.Lys1589Thr)
c.1469A>C (p.Lys490Thr)
c.1514A>C (p.Lys505Thr)
c.4970A>C (p.Lys1657Thr)
c.1294A>C
c.1481A>C (p.Lys494Thr)
c.*4690A>C (n.*4690A>C)
n.60A>C
c.1220A>C (p.Lys407Thr)
c.5-7056A>C (n.5-7056A>C)
c.380A>C (p.Lys127Thr)
c.-98-20817A>C (n.-98-20817A>C)
n.5043A>C
n.5084A>C
 ClinVar dbSNP
17g.43071007T=CA2260772828BRCA1c.4904A= (p.Lys1635=)
c.4907A= (p.Lys1636=)
c.4781A= (p.Lys1594=)
c.4901A= (p.Lys1634=)
c.4829A= (p.Lys1610=)
c.1595A= (p.Lys532=)
c.1457A= (p.Lys486=)
c.4019A= (p.Lys1340=)
c.4784A= (p.Lys1595=)
c.4973A= (p.Lys1658=)
c.4766A= (p.Lys1589=)
c.1469A= (p.Lys490=)
c.1514A= (p.Lys505=)
c.4970A= (p.Lys1657=)
c.1294A=
c.1481A= (p.Lys494=)
c.*4690A= (n.*4690A=)
n.60A=
c.1220A= (p.Lys407=)
c.5-7056A= (n.5-7056A=)
c.380A= (p.Lys127=)
c.-98-20817A= (n.-98-20817A=)
n.5043A=
n.5084A=
17g.43071008delCA2733912920BRCA1c.4904del (p.Lys1635SerfsTer4)
c.4907del (p.Lys1636SerfsTer4)
c.4781del (p.Lys1594SerfsTer4)
c.4901del (p.Lys1634SerfsTer4)
c.4829del (p.Lys1610SerfsTer4)
c.1595del (p.Lys532SerfsTer4)
c.1457del (p.Lys486SerfsTer4)
c.4019del (p.Lys1340SerfsTer4)
c.4784del (p.Lys1595SerfsTer4)
c.4973del (p.Lys1658SerfsTer4)
c.4766del (p.Lys1589SerfsTer4)
c.1469del (p.Lys490SerfsTer4)
c.1514del (p.Lys505SerfsTer4)
c.4970del (p.Lys1657SerfsTer4)
c.1294del
c.1481del (p.Lys494SerfsTer4)
c.*4690del (n.*4690del)
n.60del
c.1220del (p.Lys407SerfsTer4)
c.5-7056del (n.5-7056del)
c.380del (p.Lys127SerfsTer4)
c.-98-20817del (n.-98-20817del)
n.5043del
n.5084del
 dbSNP
17g.43071007_43071009delinsTTCCA2260772827BRCA1c.4902_4904delinsGAA (p.Glu1634=)
c.4905_4907delinsGAA (p.Glu1635=)
c.4779_4781delinsGAA (p.Glu1593=)
c.4899_4901delinsGAA (p.Glu1633=)
c.4827_4829delinsGAA (p.Glu1609=)
c.1593_1595delinsGAA (p.Glu531=)
c.1455_1457delinsGAA (p.Glu485=)
c.4017_4019delinsGAA (p.Glu1339=)
c.4782_4784delinsGAA (p.Glu1594=)
c.4971_4973delinsGAA (p.Glu1657=)
c.4764_4766delinsGAA (p.Glu1588=)
c.1467_1469delinsGAA (p.Glu489=)
c.1512_1514delinsGAA (p.Glu504=)
c.4968_4970delinsGAA (p.Glu1656=)
c.1292_1294delinsGAA
c.1479_1481delinsGAA (p.Glu493=)
c.*4688_*4690delinsGAA (n.*4688_*4690delinsGAA)
n.58_60delinsGAA
c.1218_1220delinsGAA (p.Glu406=)
c.5-7058_5-7056delinsGAA (n.5-7058_5-7056delinsGAA)
c.378_380delinsGAA (p.Glu126=)
c.-98-20819_-98-20817delinsGAA (n.-98-20819_-98-20817delinsGAA)
n.5041_5043delinsGAA
n.5082_5084delinsGAA
17g.43071008T>ACA10591711BRCA1c.4903A>T (p.Lys1635Ter)
c.4906A>T (p.Lys1636Ter)
c.4780A>T (p.Lys1594Ter)
c.4900A>T (p.Lys1634Ter)
c.4828A>T (p.Lys1610Ter)
c.1594A>T (p.Lys532Ter)
c.1456A>T (p.Lys486Ter)
c.4018A>T (p.Lys1340Ter)
c.4783A>T (p.Lys1595Ter)
c.4972A>T (p.Lys1658Ter)
c.4765A>T (p.Lys1589Ter)
c.1468A>T (p.Lys490Ter)
c.1513A>T (p.Lys505Ter)
c.4969A>T (p.Lys1657Ter)
c.1293A>T
c.1480A>T (p.Lys494Ter)
c.*4689A>T (n.*4689A>T)
n.59A>T
c.1219A>T (p.Lys407Ter)
c.5-7057A>T (n.5-7057A>T)
c.379A>T (p.Lys127Ter)
c.-98-20818A>T (n.-98-20818A>T)
n.5042A>T
n.5083A>T
 ClinVar dbSNP
17g.43071008T>CCA10591712BRCA1c.4903A>G (p.Lys1635Glu)
c.4906A>G (p.Lys1636Glu)
c.4780A>G (p.Lys1594Glu)
c.4900A>G (p.Lys1634Glu)
c.4828A>G (p.Lys1610Glu)
c.1594A>G (p.Lys532Glu)
c.1456A>G (p.Lys486Glu)
c.4018A>G (p.Lys1340Glu)
c.4783A>G (p.Lys1595Glu)
c.4972A>G (p.Lys1658Glu)
c.4765A>G (p.Lys1589Glu)
c.1468A>G (p.Lys490Glu)
c.1513A>G (p.Lys505Glu)
c.4969A>G (p.Lys1657Glu)
c.1293A>G
c.1480A>G (p.Lys494Glu)
c.*4689A>G (n.*4689A>G)
n.59A>G
c.1219A>G (p.Lys407Glu)
c.5-7057A>G (n.5-7057A>G)
c.379A>G (p.Lys127Glu)
c.-98-20818A>G (n.-98-20818A>G)
n.5042A>G
n.5083A>G
 ClinVar dbSNP
17g.43071008T>GCA10591713BRCA1c.4903A>C (p.Lys1635Gln)
c.4906A>C (p.Lys1636Gln)
c.4780A>C (p.Lys1594Gln)
c.4900A>C (p.Lys1634Gln)
c.4828A>C (p.Lys1610Gln)
c.1594A>C (p.Lys532Gln)
c.1456A>C (p.Lys486Gln)
c.4018A>C (p.Lys1340Gln)
c.4783A>C (p.Lys1595Gln)
c.4972A>C (p.Lys1658Gln)
c.4765A>C (p.Lys1589Gln)
c.1468A>C (p.Lys490Gln)
c.1513A>C (p.Lys505Gln)
c.4969A>C (p.Lys1657Gln)
c.1293A>C
c.1480A>C (p.Lys494Gln)
c.*4689A>C (n.*4689A>C)
n.59A>C
c.1219A>C (p.Lys407Gln)
c.5-7057A>C (n.5-7057A>C)
c.379A>C (p.Lys127Gln)
c.-98-20818A>C (n.-98-20818A>C)
n.5042A>C
n.5083A>C
 ClinVar dbSNP
17g.43071008T=CA2260772829BRCA1c.4903A= (p.Lys1635=)
c.4906A= (p.Lys1636=)
c.4780A= (p.Lys1594=)
c.4900A= (p.Lys1634=)
c.4828A= (p.Lys1610=)
c.1594A= (p.Lys532=)
c.1456A= (p.Lys486=)
c.4018A= (p.Lys1340=)
c.4783A= (p.Lys1595=)
c.4972A= (p.Lys1658=)
c.4765A= (p.Lys1589=)
c.1468A= (p.Lys490=)
c.1513A= (p.Lys505=)
c.4969A= (p.Lys1657=)
c.1293A=
c.1480A= (p.Lys494=)
c.*4689A= (n.*4689A=)
n.59A=
c.1219A= (p.Lys407=)
c.5-7057A= (n.5-7057A=)
c.379A= (p.Lys127=)
c.-98-20818A= (n.-98-20818A=)
n.5042A=
n.5083A=
17g.43071010_43071011delCA003074BRCA1c.4902_4903del (p.Lys1635AlafsTer?)
c.4905_4906del (p.Lys1636AlafsTer?)
c.4779_4780del (p.Lys1594AlafsTer?)
c.4899_4900del (p.Lys1634AlafsTer?)
c.4827_4828del (p.Lys1610AlafsTer?)
c.1593_1594del (p.Lys532AlafsTer?)
c.1455_1456del (p.Lys486AlafsTer?)
c.4017_4018del (p.Lys1340AlafsTer?)
c.4782_4783del (p.Lys1595AlafsTer?)
c.4971_4972del (p.Lys1658AlafsTer?)
c.4764_4765del (p.Lys1589AlafsTer?)
c.1467_1468del (p.Lys490AlafsTer?)
c.1512_1513del (p.Lys505AlafsTer?)
c.4968_4969del (p.Lys1657AlafsTer?)
c.1292_1293del
c.1479_1480del (p.Lys494AlafsTer?)
c.*4688_*4689del (n.*4688_*4689del)
n.58_59del
c.1218_1219del (p.Lys407AlafsTer?)
c.5-7058_5-7057del (n.5-7058_5-7057del)
c.378_379del (p.Lys127AlafsTer?)
c.-98-20819_-98-20818del (n.-98-20819_-98-20818del)
n.5041_5042del
n.5082_5083del
 ClinVar dbSNP
17g.43071009C>ACA10591714BRCA1c.4902G>T (p.Glu1634Asp)
c.4905G>T (p.Glu1635Asp)
c.4779G>T (p.Glu1593Asp)
c.4899G>T (p.Glu1633Asp)
c.4827G>T (p.Glu1609Asp)
c.1593G>T (p.Glu531Asp)
c.1455G>T (p.Glu485Asp)
c.4017G>T (p.Glu1339Asp)
c.4782G>T (p.Glu1594Asp)
c.4971G>T (p.Glu1657Asp)
c.4764G>T (p.Glu1588Asp)
c.1467G>T (p.Glu489Asp)
c.1512G>T (p.Glu504Asp)
c.4968G>T (p.Glu1656Asp)
c.1292G>T
c.1479G>T (p.Glu493Asp)
c.*4688G>T (n.*4688G>T)
n.58G>T
c.1218G>T (p.Glu406Asp)
c.5-7058G>T (n.5-7058G>T)
c.378G>T (p.Glu126Asp)
c.-98-20819G>T (n.-98-20819G>T)
n.5041G>T
n.5082G>T
 ClinVar dbSNP
17g.43071009C=CA2260772830BRCA1c.4902G= (p.Glu1634=)
c.4905G= (p.Glu1635=)
c.4779G= (p.Glu1593=)
c.4899G= (p.Glu1633=)
c.4827G= (p.Glu1609=)
c.1593G= (p.Glu531=)
c.1455G= (p.Glu485=)
c.4017G= (p.Glu1339=)
c.4782G= (p.Glu1594=)
c.4971G= (p.Glu1657=)
c.4764G= (p.Glu1588=)
c.1467G= (p.Glu489=)
c.1512G= (p.Glu504=)
c.4968G= (p.Glu1656=)
c.1292G=
c.1479G= (p.Glu493=)
c.*4688G= (n.*4688G=)
n.58G=
c.1218G= (p.Glu406=)
c.5-7058G= (n.5-7058G=)
c.378G= (p.Glu126=)
c.-98-20819G= (n.-98-20819G=)
n.5041G=
n.5082G=
17g.43071009C>GCA10591715BRCA1c.4902G>C (p.Glu1634Asp)
c.4905G>C (p.Glu1635Asp)
c.4779G>C (p.Glu1593Asp)
c.4899G>C (p.Glu1633Asp)
c.4827G>C (p.Glu1609Asp)
c.1593G>C (p.Glu531Asp)
c.1455G>C (p.Glu485Asp)
c.4017G>C (p.Glu1339Asp)
c.4782G>C (p.Glu1594Asp)
c.4971G>C (p.Glu1657Asp)
c.4764G>C (p.Glu1588Asp)
c.1467G>C (p.Glu489Asp)
c.1512G>C (p.Glu504Asp)
c.4968G>C (p.Glu1656Asp)
c.1292G>C
c.1479G>C (p.Glu493Asp)
c.*4688G>C (n.*4688G>C)
n.58G>C
c.1218G>C (p.Glu406Asp)
c.5-7058G>C (n.5-7058G>C)
c.378G>C (p.Glu126Asp)
c.-98-20819G>C (n.-98-20819G>C)
n.5041G>C
n.5082G>C
 ClinVar dbSNP
17g.43071009C>TCA500231696BRCA1c.4902G>A (p.Glu1634=)
c.4905G>A (p.Glu1635=)
c.4779G>A (p.Glu1593=)
c.4899G>A (p.Glu1633=)
c.4827G>A (p.Glu1609=)
c.1593G>A (p.Glu531=)
c.1455G>A (p.Glu485=)
c.4017G>A (p.Glu1339=)
c.4782G>A (p.Glu1594=)
c.4971G>A (p.Glu1657=)
c.4764G>A (p.Glu1588=)
c.1467G>A (p.Glu489=)
c.1512G>A (p.Glu504=)
c.4968G>A (p.Glu1656=)
c.1292G>A
c.1479G>A (p.Glu493=)
c.*4688G>A (n.*4688G>A)
n.58G>A
c.1218G>A (p.Glu406=)
c.5-7058G>A (n.5-7058G>A)
c.378G>A (p.Glu126=)
c.-98-20819G>A (n.-98-20819G>A)
n.5041G>A
n.5082G>A
 ClinVar dbSNP COSMIC COSMIC
17g.43071010T>ACA10591716BRCA1c.4901A>T (p.Glu1634Val)
c.4904A>T (p.Glu1635Val)
c.4778A>T (p.Glu1593Val)
c.4898A>T (p.Glu1633Val)
c.4826A>T (p.Glu1609Val)
c.1592A>T (p.Glu531Val)
c.1454A>T (p.Glu485Val)
c.4016A>T (p.Glu1339Val)
c.4781A>T (p.Glu1594Val)
c.4970A>T (p.Glu1657Val)
c.4763A>T (p.Glu1588Val)
c.1466A>T (p.Glu489Val)
c.1511A>T (p.Glu504Val)
c.4967A>T (p.Glu1656Val)
c.1291A>T
c.1478A>T (p.Glu493Val)
c.*4687A>T (n.*4687A>T)
n.57A>T
c.1217A>T (p.Glu406Val)
c.5-7059A>T (n.5-7059A>T)
c.377A>T (p.Glu126Val)
c.-98-20820A>T (n.-98-20820A>T)
n.5040A>T
n.5081A>T
 ClinVar dbSNP
17g.43071010T>CCA10591717BRCA1c.4901A>G (p.Glu1634Gly)
c.4904A>G (p.Glu1635Gly)
c.4778A>G (p.Glu1593Gly)
c.4898A>G (p.Glu1633Gly)
c.4826A>G (p.Glu1609Gly)
c.1592A>G (p.Glu531Gly)
c.1454A>G (p.Glu485Gly)
c.4016A>G (p.Glu1339Gly)
c.4781A>G (p.Glu1594Gly)
c.4970A>G (p.Glu1657Gly)
c.4763A>G (p.Glu1588Gly)
c.1466A>G (p.Glu489Gly)
c.1511A>G (p.Glu504Gly)
c.4967A>G (p.Glu1656Gly)
c.1291A>G
c.1478A>G (p.Glu493Gly)
c.*4687A>G (n.*4687A>G)
n.57A>G
c.1217A>G (p.Glu406Gly)
c.5-7059A>G (n.5-7059A>G)
c.377A>G (p.Glu126Gly)
c.-98-20820A>G (n.-98-20820A>G)
n.5040A>G
n.5081A>G
 ClinVar dbSNP
17g.43071010T>GCA10591718BRCA1c.4901A>C (p.Glu1634Ala)
c.4904A>C (p.Glu1635Ala)
c.4778A>C (p.Glu1593Ala)
c.4898A>C (p.Glu1633Ala)
c.4826A>C (p.Glu1609Ala)
c.1592A>C (p.Glu531Ala)
c.1454A>C (p.Glu485Ala)
c.4016A>C (p.Glu1339Ala)
c.4781A>C (p.Glu1594Ala)
c.4970A>C (p.Glu1657Ala)
c.4763A>C (p.Glu1588Ala)
c.1466A>C (p.Glu489Ala)
c.1511A>C (p.Glu504Ala)
c.4967A>C (p.Glu1656Ala)
c.1291A>C
c.1478A>C (p.Glu493Ala)
c.*4687A>C (n.*4687A>C)
n.57A>C
c.1217A>C (p.Glu406Ala)
c.5-7059A>C (n.5-7059A>C)
c.377A>C (p.Glu126Ala)
c.-98-20820A>C (n.-98-20820A>C)
n.5040A>C
n.5081A>C
 ClinVar dbSNP
17g.43071010T=CA2260772832BRCA1c.4901A= (p.Glu1634=)
c.4904A= (p.Glu1635=)
c.4778A= (p.Glu1593=)
c.4898A= (p.Glu1633=)
c.4826A= (p.Glu1609=)
c.1592A= (p.Glu531=)
c.1454A= (p.Glu485=)
c.4016A= (p.Glu1339=)
c.4781A= (p.Glu1594=)
c.4970A= (p.Glu1657=)
c.4763A= (p.Glu1588=)
c.1466A= (p.Glu489=)
c.1511A= (p.Glu504=)
c.4967A= (p.Glu1656=)
c.1291A=
c.1478A= (p.Glu493=)
c.*4687A= (n.*4687A=)
n.57A=
c.1217A= (p.Glu406=)
c.5-7059A= (n.5-7059A=)
c.377A= (p.Glu126=)
c.-98-20820A= (n.-98-20820A=)
n.5040A=
n.5081A=
17g.43071010_43071011delinsTCCA2260772831BRCA1c.4900_4901delinsGA (p.Glu1634=)
c.4903_4904delinsGA (p.Glu1635=)
c.4777_4778delinsGA (p.Glu1593=)
c.4897_4898delinsGA (p.Glu1633=)
c.4825_4826delinsGA (p.Glu1609=)
c.1591_1592delinsGA (p.Glu531=)
c.1453_1454delinsGA (p.Glu485=)
c.4015_4016delinsGA (p.Glu1339=)
c.4780_4781delinsGA (p.Glu1594=)
c.4969_4970delinsGA (p.Glu1657=)
c.4762_4763delinsGA (p.Glu1588=)
c.1465_1466delinsGA (p.Glu489=)
c.1510_1511delinsGA (p.Glu504=)
c.4966_4967delinsGA (p.Glu1656=)
c.1290_1291delinsGA
c.1477_1478delinsGA (p.Glu493=)
c.*4686_*4687delinsGA (n.*4686_*4687delinsGA)
n.56_57delinsGA
c.1216_1217delinsGA (p.Glu406=)
c.5-7060_5-7059delinsGA (n.5-7060_5-7059delinsGA)
c.376_377delinsGA (p.Glu126=)
c.-98-20821_-98-20820delinsGA (n.-98-20821_-98-20820delinsGA)
n.5039_5040delinsGA
n.5080_5081delinsGA
17g.43071011C>ACA003073BRCA1c.4900G>T (p.Glu1634Ter)
c.4903G>T (p.Glu1635Ter)
c.4777G>T (p.Glu1593Ter)
c.4897G>T (p.Glu1633Ter)
c.4825G>T (p.Glu1609Ter)
c.1591G>T (p.Glu531Ter)
c.1453G>T (p.Glu485Ter)
c.4015G>T (p.Glu1339Ter)
c.4780G>T (p.Glu1594Ter)
c.4969G>T (p.Glu1657Ter)
c.4762G>T (p.Glu1588Ter)
c.1465G>T (p.Glu489Ter)
c.1510G>T (p.Glu504Ter)
c.4966G>T (p.Glu1656Ter)
c.1290G>T
c.1477G>T (p.Glu493Ter)
c.*4686G>T (n.*4686G>T)
n.56G>T
c.1216G>T (p.Glu406Ter)
c.5-7060G>T (n.5-7060G>T)
c.376G>T (p.Glu126Ter)
c.-98-20821G>T (n.-98-20821G>T)
n.5039G>T
n.5080G>T
 ClinVar dbSNP
17g.43071011C=CA2260772833BRCA1c.4900G= (p.Glu1634=)
c.4903G= (p.Glu1635=)
c.4777G= (p.Glu1593=)
c.4897G= (p.Glu1633=)
c.4825G= (p.Glu1609=)
c.1591G= (p.Glu531=)
c.1453G= (p.Glu485=)
c.4015G= (p.Glu1339=)
c.4780G= (p.Glu1594=)
c.4969G= (p.Glu1657=)
c.4762G= (p.Glu1588=)
c.1465G= (p.Glu489=)
c.1510G= (p.Glu504=)
c.4966G= (p.Glu1656=)
c.1290G=
c.1477G= (p.Glu493=)
c.*4686G= (n.*4686G=)
n.56G=
c.1216G= (p.Glu406=)
c.5-7060G= (n.5-7060G=)
c.376G= (p.Glu126=)
c.-98-20821G= (n.-98-20821G=)
n.5039G=
n.5080G=
17g.43071011C>GCA10591719BRCA1c.4900G>C (p.Glu1634Gln)
c.4903G>C (p.Glu1635Gln)
c.4777G>C (p.Glu1593Gln)
c.4897G>C (p.Glu1633Gln)
c.4825G>C (p.Glu1609Gln)
c.1591G>C (p.Glu531Gln)
c.1453G>C (p.Glu485Gln)
c.4015G>C (p.Glu1339Gln)
c.4780G>C (p.Glu1594Gln)
c.4969G>C (p.Glu1657Gln)
c.4762G>C (p.Glu1588Gln)
c.1465G>C (p.Glu489Gln)
c.1510G>C (p.Glu504Gln)
c.4966G>C (p.Glu1656Gln)
c.1290G>C
c.1477G>C (p.Glu493Gln)
c.*4686G>C (n.*4686G>C)
n.56G>C
c.1216G>C (p.Glu406Gln)
c.5-7060G>C (n.5-7060G>C)
c.376G>C (p.Glu126Gln)
c.-98-20821G>C (n.-98-20821G>C)
n.5039G>C
n.5080G>C
 ClinVar dbSNP
17g.43071011C>TCA003072BRCA1c.4900G>A (p.Glu1634Lys)
c.4903G>A (p.Glu1635Lys)
c.4777G>A (p.Glu1593Lys)
c.4897G>A (p.Glu1633Lys)
c.4825G>A (p.Glu1609Lys)
c.1591G>A (p.Glu531Lys)
c.1453G>A (p.Glu485Lys)
c.4015G>A (p.Glu1339Lys)
c.4780G>A (p.Glu1594Lys)
c.4969G>A (p.Glu1657Lys)
c.4762G>A (p.Glu1588Lys)
c.1465G>A (p.Glu489Lys)
c.1510G>A (p.Glu504Lys)
c.4966G>A (p.Glu1656Lys)
c.1290G>A
c.1477G>A (p.Glu493Lys)
c.*4686G>A (n.*4686G>A)
n.56G>A
c.1216G>A (p.Glu406Lys)
c.5-7060G>A (n.5-7060G>A)
c.376G>A (p.Glu126Lys)
c.-98-20821G>A (n.-98-20821G>A)
n.5039G>A
n.5080G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43071013dupCA915950106BRCA1c.4900dup (p.Glu1634GlyfsTer?)
c.4903dup (p.Glu1635GlyfsTer?)
c.4777dup (p.Glu1593GlyfsTer?)
c.4897dup (p.Glu1633GlyfsTer?)
c.4825dup (p.Glu1609GlyfsTer?)
c.1591dup (p.Glu531GlyfsTer?)
c.1453dup (p.Glu485GlyfsTer?)
c.4015dup (p.Glu1339GlyfsTer?)
c.4780dup (p.Glu1594GlyfsTer?)
c.4969dup (p.Glu1657GlyfsTer?)
c.4762dup (p.Glu1588GlyfsTer?)
c.1465dup (p.Glu489GlyfsTer?)
c.1510dup (p.Glu504GlyfsTer?)
c.4966dup (p.Glu1656GlyfsTer?)
c.1290dup
c.1477dup (p.Glu493GlyfsTer?)
c.*4686dup (n.*4686dup)
n.56dup
c.1216dup (p.Glu406GlyfsTer?)
c.5-7060dup (n.5-7060dup)
c.376dup (p.Glu126GlyfsTer?)
c.-98-20821dup (n.-98-20821dup)
n.5039dup
n.5080dup
 ClinVar dbSNP
17g.43071013delCA645373142BRCA1c.4900del (p.Glu1634ArgfsTer5)
c.4903del (p.Glu1635ArgfsTer5)
c.4777del (p.Glu1593ArgfsTer5)
c.4897del (p.Glu1633ArgfsTer5)
c.4825del (p.Glu1609ArgfsTer5)
c.1591del (p.Glu531ArgfsTer5)
c.1453del (p.Glu485ArgfsTer5)
c.4015del (p.Glu1339ArgfsTer5)
c.4780del (p.Glu1594ArgfsTer5)
c.4969del (p.Glu1657ArgfsTer5)
c.4762del (p.Glu1588ArgfsTer5)
c.1465del (p.Glu489ArgfsTer5)
c.1510del (p.Glu504ArgfsTer5)
c.4966del (p.Glu1656ArgfsTer5)
c.1290del
c.1477del (p.Glu493ArgfsTer5)
c.*4686del (n.*4686del)
n.56del
c.1216del (p.Glu406ArgfsTer5)
c.5-7060del (n.5-7060del)
c.376del (p.Glu126ArgfsTer5)
c.-98-20821del (n.-98-20821del)
n.5039del
n.5080del
 ClinVar dbSNP
17g.43071012C>ACA053433BRCA1c.4899G>T (p.Arg1633Ser)
c.4902G>T (p.Arg1634Ser)
c.4776G>T (p.Arg1592Ser)
c.4896G>T (p.Arg1632Ser)
c.4824G>T (p.Arg1608Ser)
c.1590G>T (p.Arg530Ser)
c.1452G>T (p.Arg484Ser)
c.4014G>T (p.Arg1338Ser)
c.4779G>T (p.Arg1593Ser)
c.4968G>T (p.Arg1656Ser)
c.4761G>T (p.Arg1587Ser)
c.1464G>T (p.Arg488Ser)
c.1509G>T (p.Arg503Ser)
c.4965G>T (p.Arg1655Ser)
c.1289G>T
c.1476G>T (p.Arg492Ser)
c.*4685G>T (n.*4685G>T)
n.55G>T
c.1215G>T (p.Arg405Ser)
c.5-7061G>T (n.5-7061G>T)
c.375G>T (p.Arg125Ser)
c.-98-20822G>T (n.-98-20822G>T)
n.5038G>T
n.5079G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43071012C=CA2260772834BRCA1c.4899G= (p.Arg1633=)
c.4902G= (p.Arg1634=)
c.4776G= (p.Arg1592=)
c.4896G= (p.Arg1632=)
c.4824G= (p.Arg1608=)
c.1590G= (p.Arg530=)
c.1452G= (p.Arg484=)
c.4014G= (p.Arg1338=)
c.4779G= (p.Arg1593=)
c.4968G= (p.Arg1656=)
c.4761G= (p.Arg1587=)
c.1464G= (p.Arg488=)
c.1509G= (p.Arg503=)
c.4965G= (p.Arg1655=)
c.1289G=
c.1476G= (p.Arg492=)
c.*4685G= (n.*4685G=)
n.55G=
c.1215G= (p.Arg405=)
c.5-7061G= (n.5-7061G=)
c.375G= (p.Arg125=)
c.-98-20822G= (n.-98-20822G=)
n.5038G=
n.5079G=
17g.43071012C>GCA10591720BRCA1c.4899G>C (p.Arg1633Ser)
c.4902G>C (p.Arg1634Ser)
c.4776G>C (p.Arg1592Ser)
c.4896G>C (p.Arg1632Ser)
c.4824G>C (p.Arg1608Ser)
c.1590G>C (p.Arg530Ser)
c.1452G>C (p.Arg484Ser)
c.4014G>C (p.Arg1338Ser)
c.4779G>C (p.Arg1593Ser)
c.4968G>C (p.Arg1656Ser)
c.4761G>C (p.Arg1587Ser)
c.1464G>C (p.Arg488Ser)
c.1509G>C (p.Arg503Ser)
c.4965G>C (p.Arg1655Ser)
c.1289G>C
c.1476G>C (p.Arg492Ser)
c.*4685G>C (n.*4685G>C)
n.55G>C
c.1215G>C (p.Arg405Ser)
c.5-7061G>C (n.5-7061G>C)
c.375G>C (p.Arg125Ser)
c.-98-20822G>C (n.-98-20822G>C)
n.5038G>C
n.5079G>C
 ClinVar dbSNP
17g.43071012C>TCA339038BRCA1c.4899G>A (p.Arg1633=)
c.4902G>A (p.Arg1634=)
c.4776G>A (p.Arg1592=)
c.4896G>A (p.Arg1632=)
c.4824G>A (p.Arg1608=)
c.1590G>A (p.Arg530=)
c.1452G>A (p.Arg484=)
c.4014G>A (p.Arg1338=)
c.4779G>A (p.Arg1593=)
c.4968G>A (p.Arg1656=)
c.4761G>A (p.Arg1587=)
c.1464G>A (p.Arg488=)
c.1509G>A (p.Arg503=)
c.4965G>A (p.Arg1655=)
c.1289G>A
c.1476G>A (p.Arg492=)
c.*4685G>A (n.*4685G>A)
n.55G>A
c.1215G>A (p.Arg405=)
c.5-7061G>A (n.5-7061G>A)
c.375G>A (p.Arg125=)
c.-98-20822G>A (n.-98-20822G>A)
n.5038G>A
n.5079G>A
 ClinVar dbSNP gnomAD v4
17g.43071013C>ACA10591721BRCA1c.4898G>T (p.Arg1633Met)
c.4901G>T (p.Arg1634Met)
c.4775G>T (p.Arg1592Met)
c.4895G>T (p.Arg1632Met)
c.4823G>T (p.Arg1608Met)
c.1589G>T (p.Arg530Met)
c.1451G>T (p.Arg484Met)
c.4013G>T (p.Arg1338Met)
c.4778G>T (p.Arg1593Met)
c.4967G>T (p.Arg1656Met)
c.4760G>T (p.Arg1587Met)
c.1463G>T (p.Arg488Met)
c.1508G>T (p.Arg503Met)
c.4964G>T (p.Arg1655Met)
c.1288G>T
c.1475G>T (p.Arg492Met)
c.*4684G>T (n.*4684G>T)
n.54G>T
c.1214G>T (p.Arg405Met)
c.5-7062G>T (n.5-7062G>T)
c.374G>T (p.Arg125Met)
c.-98-20823G>T (n.-98-20823G>T)
n.5037G>T
n.5078G>T
 dbSNP
17g.43071013C=CA2260772835BRCA1c.4898G= (p.Arg1633=)
c.4901G= (p.Arg1634=)
c.4775G= (p.Arg1592=)
c.4895G= (p.Arg1632=)
c.4823G= (p.Arg1608=)
c.1589G= (p.Arg530=)
c.1451G= (p.Arg484=)
c.4013G= (p.Arg1338=)
c.4778G= (p.Arg1593=)
c.4967G= (p.Arg1656=)
c.4760G= (p.Arg1587=)
c.1463G= (p.Arg488=)
c.1508G= (p.Arg503=)
c.4964G= (p.Arg1655=)
c.1288G=
c.1475G= (p.Arg492=)
c.*4684G= (n.*4684G=)
n.54G=
c.1214G= (p.Arg405=)
c.5-7062G= (n.5-7062G=)
c.374G= (p.Arg125=)
c.-98-20823G= (n.-98-20823G=)
n.5037G=
n.5078G=
17g.43071013C>GCA10591722BRCA1c.4898G>C (p.Arg1633Thr)
c.4901G>C (p.Arg1634Thr)
c.4775G>C (p.Arg1592Thr)
c.4895G>C (p.Arg1632Thr)
c.4823G>C (p.Arg1608Thr)
c.1589G>C (p.Arg530Thr)
c.1451G>C (p.Arg484Thr)
c.4013G>C (p.Arg1338Thr)
c.4778G>C (p.Arg1593Thr)
c.4967G>C (p.Arg1656Thr)
c.4760G>C (p.Arg1587Thr)
c.1463G>C (p.Arg488Thr)
c.1508G>C (p.Arg503Thr)
c.4964G>C (p.Arg1655Thr)
c.1288G>C
c.1475G>C (p.Arg492Thr)
c.*4684G>C (n.*4684G>C)
n.54G>C
c.1214G>C (p.Arg405Thr)
c.5-7062G>C (n.5-7062G>C)
c.374G>C (p.Arg125Thr)
c.-98-20823G>C (n.-98-20823G>C)
n.5037G>C
n.5078G>C
 ClinVar dbSNP
17g.43071013C>TCA10591723BRCA1c.4898G>A (p.Arg1633Lys)
c.4901G>A (p.Arg1634Lys)
c.4775G>A (p.Arg1592Lys)
c.4895G>A (p.Arg1632Lys)
c.4823G>A (p.Arg1608Lys)
c.1589G>A (p.Arg530Lys)
c.1451G>A (p.Arg484Lys)
c.4013G>A (p.Arg1338Lys)
c.4778G>A (p.Arg1593Lys)
c.4967G>A (p.Arg1656Lys)
c.4760G>A (p.Arg1587Lys)
c.1463G>A (p.Arg488Lys)
c.1508G>A (p.Arg503Lys)
c.4964G>A (p.Arg1655Lys)
c.1288G>A
c.1475G>A (p.Arg492Lys)
c.*4684G>A (n.*4684G>A)
n.54G>A
c.1214G>A (p.Arg405Lys)
c.5-7062G>A (n.5-7062G>A)
c.374G>A (p.Arg125Lys)
c.-98-20823G>A (n.-98-20823G>A)
n.5037G>A
n.5078G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43071014T>ACA10591724BRCA1c.4897A>T (p.Arg1633Trp)
c.4900A>T (p.Arg1634Trp)
c.4774A>T (p.Arg1592Trp)
c.4894A>T (p.Arg1632Trp)
c.4822A>T (p.Arg1608Trp)
c.1588A>T (p.Arg530Trp)
c.1450A>T (p.Arg484Trp)
c.4012A>T (p.Arg1338Trp)
c.4777A>T (p.Arg1593Trp)
c.4966A>T (p.Arg1656Trp)
c.4759A>T (p.Arg1587Trp)
c.1462A>T (p.Arg488Trp)
c.1507A>T (p.Arg503Trp)
c.4963A>T (p.Arg1655Trp)
c.1287A>T
c.1474A>T (p.Arg492Trp)
c.*4683A>T (n.*4683A>T)
n.53A>T
c.1213A>T (p.Arg405Trp)
c.5-7063A>T (n.5-7063A>T)
c.373A>T (p.Arg125Trp)
c.-98-20824A>T (n.-98-20824A>T)
n.5036A>T
n.5077A>T
 dbSNP
17g.43071014T>CCA10591725BRCA1c.4897A>G (p.Arg1633Gly)
c.4900A>G (p.Arg1634Gly)
c.4774A>G (p.Arg1592Gly)
c.4894A>G (p.Arg1632Gly)
c.4822A>G (p.Arg1608Gly)
c.1588A>G (p.Arg530Gly)
c.1450A>G (p.Arg484Gly)
c.4012A>G (p.Arg1338Gly)
c.4777A>G (p.Arg1593Gly)
c.4966A>G (p.Arg1656Gly)
c.4759A>G (p.Arg1587Gly)
c.1462A>G (p.Arg488Gly)
c.1507A>G (p.Arg503Gly)
c.4963A>G (p.Arg1655Gly)
c.1287A>G
c.1474A>G (p.Arg492Gly)
c.*4683A>G (n.*4683A>G)
n.53A>G
c.1213A>G (p.Arg405Gly)
c.5-7063A>G (n.5-7063A>G)
c.373A>G (p.Arg125Gly)
c.-98-20824A>G (n.-98-20824A>G)
n.5036A>G
n.5077A>G
 ClinVar dbSNP
17g.43071014T>GCA500231709BRCA1c.4897A>C (p.Arg1633=)
c.4900A>C (p.Arg1634=)
c.4774A>C (p.Arg1592=)
c.4894A>C (p.Arg1632=)
c.4822A>C (p.Arg1608=)
c.1588A>C (p.Arg530=)
c.1450A>C (p.Arg484=)
c.4012A>C (p.Arg1338=)
c.4777A>C (p.Arg1593=)
c.4966A>C (p.Arg1656=)
c.4759A>C (p.Arg1587=)
c.1462A>C (p.Arg488=)
c.1507A>C (p.Arg503=)
c.4963A>C (p.Arg1655=)
c.1287A>C
c.1474A>C (p.Arg492=)
c.*4683A>C (n.*4683A>C)
n.53A>C
c.1213A>C (p.Arg405=)
c.5-7063A>C (n.5-7063A>C)
c.373A>C (p.Arg125=)
c.-98-20824A>C (n.-98-20824A>C)
n.5036A>C
n.5077A>C
 ClinVar dbSNP
17g.43071014T=CA2260772836BRCA1c.4897A= (p.Arg1633=)
c.4900A= (p.Arg1634=)
c.4774A= (p.Arg1592=)
c.4894A= (p.Arg1632=)
c.4822A= (p.Arg1608=)
c.1588A= (p.Arg530=)
c.1450A= (p.Arg484=)
c.4012A= (p.Arg1338=)
c.4777A= (p.Arg1593=)
c.4966A= (p.Arg1656=)
c.4759A= (p.Arg1587=)
c.1462A= (p.Arg488=)
c.1507A= (p.Arg503=)
c.4963A= (p.Arg1655=)
c.1287A=
c.1474A= (p.Arg492=)
c.*4683A= (n.*4683A=)
n.53A=
c.1213A= (p.Arg405=)
c.5-7063A= (n.5-7063A=)
c.373A= (p.Arg125=)
c.-98-20824A= (n.-98-20824A=)
n.5036A=
n.5077A=
17g.43071015G>ACA500231712BRCA1c.4896C>T (p.Ser1632=)
c.4899C>T (p.Ser1633=)
c.4773C>T (p.Ser1591=)
c.4893C>T (p.Ser1631=)
c.4821C>T (p.Ser1607=)
c.1587C>T (p.Ser529=)
c.1449C>T (p.Ser483=)
c.4011C>T (p.Ser1337=)
c.4776C>T (p.Ser1592=)
c.4965C>T (p.Ser1655=)
c.4758C>T (p.Ser1586=)
c.1461C>T (p.Ser487=)
c.1506C>T (p.Ser502=)
c.4962C>T (p.Ser1654=)
c.1286C>T
c.1473C>T (p.Ser491=)
c.*4682C>T (n.*4682C>T)
n.52C>T
c.1212C>T (p.Ser404=)
c.5-7064C>T (n.5-7064C>T)
c.372C>T (p.Ser124=)
c.-98-20825C>T (n.-98-20825C>T)
n.5035C>T
n.5076C>T
 ClinVar dbSNP gnomAD v4
17g.43071015G>CCA10591726BRCA1c.4896C>G (p.Ser1632Arg)
c.4899C>G (p.Ser1633Arg)
c.4773C>G (p.Ser1591Arg)
c.4893C>G (p.Ser1631Arg)
c.4821C>G (p.Ser1607Arg)
c.1587C>G (p.Ser529Arg)
c.1449C>G (p.Ser483Arg)
c.4011C>G (p.Ser1337Arg)
c.4776C>G (p.Ser1592Arg)
c.4965C>G (p.Ser1655Arg)
c.4758C>G (p.Ser1586Arg)
c.1461C>G (p.Ser487Arg)
c.1506C>G (p.Ser502Arg)
c.4962C>G (p.Ser1654Arg)
c.1286C>G
c.1473C>G (p.Ser491Arg)
c.*4682C>G (n.*4682C>G)
n.52C>G
c.1212C>G (p.Ser404Arg)
c.5-7064C>G (n.5-7064C>G)
c.372C>G (p.Ser124Arg)
c.-98-20825C>G (n.-98-20825C>G)
n.5035C>G
n.5076C>G
 ClinVar dbSNP
17g.43071015G=CA2260772837BRCA1c.4896C= (p.Ser1632=)
c.4899C= (p.Ser1633=)
c.4773C= (p.Ser1591=)
c.4893C= (p.Ser1631=)
c.4821C= (p.Ser1607=)
c.1587C= (p.Ser529=)
c.1449C= (p.Ser483=)
c.4011C= (p.Ser1337=)
c.4776C= (p.Ser1592=)
c.4965C= (p.Ser1655=)
c.4758C= (p.Ser1586=)
c.1461C= (p.Ser487=)
c.1506C= (p.Ser502=)
c.4962C= (p.Ser1654=)
c.1286C=
c.1473C= (p.Ser491=)
c.*4682C= (n.*4682C=)
n.52C=
c.1212C= (p.Ser404=)
c.5-7064C= (n.5-7064C=)
c.372C= (p.Ser124=)
c.-98-20825C= (n.-98-20825C=)
n.5035C=
n.5076C=
17g.43071015G>TCA10591727BRCA1c.4896C>A (p.Ser1632Arg)
c.4899C>A (p.Ser1633Arg)
c.4773C>A (p.Ser1591Arg)
c.4893C>A (p.Ser1631Arg)
c.4821C>A (p.Ser1607Arg)
c.1587C>A (p.Ser529Arg)
c.1449C>A (p.Ser483Arg)
c.4011C>A (p.Ser1337Arg)
c.4776C>A (p.Ser1592Arg)
c.4965C>A (p.Ser1655Arg)
c.4758C>A (p.Ser1586Arg)
c.1461C>A (p.Ser487Arg)
c.1506C>A (p.Ser502Arg)
c.4962C>A (p.Ser1654Arg)
c.1286C>A
c.1473C>A (p.Ser491Arg)
c.*4682C>A (n.*4682C>A)
n.52C>A
c.1212C>A (p.Ser404Arg)
c.5-7064C>A (n.5-7064C>A)
c.372C>A (p.Ser124Arg)
c.-98-20825C>A (n.-98-20825C>A)
n.5035C>A
n.5076C>A
 ClinVar dbSNP
17g.43071015dupCA2695225904BRCA1c.4896dup (p.Arg1633GlnfsTer?)
c.4899dup (p.Arg1634GlnfsTer?)
c.4773dup (p.Arg1592GlnfsTer?)
c.4893dup (p.Arg1632GlnfsTer?)
c.4821dup (p.Arg1608GlnfsTer?)
c.1587dup (p.Arg530GlnfsTer?)
c.1449dup (p.Arg484GlnfsTer?)
c.4011dup (p.Arg1338GlnfsTer?)
c.4776dup (p.Arg1593GlnfsTer?)
c.4965dup (p.Arg1656GlnfsTer?)
c.4758dup (p.Arg1587GlnfsTer?)
c.1461dup (p.Arg488GlnfsTer?)
c.1506dup (p.Arg503GlnfsTer?)
c.4962dup (p.Arg1655GlnfsTer?)
c.1286dup
c.1473dup (p.Arg492GlnfsTer?)
c.*4682dup (n.*4682dup)
n.52dup
c.1212dup (p.Arg405GlnfsTer?)
c.5-7064dup (n.5-7064dup)
c.372dup (p.Arg125GlnfsTer?)
c.-98-20825dup (n.-98-20825dup)
n.5035dup
n.5076dup
17g.43071016C>ACA10591728BRCA1c.4895G>T (p.Ser1632Ile)
c.4898G>T (p.Ser1633Ile)
c.4772G>T (p.Ser1591Ile)
c.4892G>T (p.Ser1631Ile)
c.4820G>T (p.Ser1607Ile)
c.1586G>T (p.Ser529Ile)
c.1448G>T (p.Ser483Ile)
c.4010G>T (p.Ser1337Ile)
c.4775G>T (p.Ser1592Ile)
c.4964G>T (p.Ser1655Ile)
c.4757G>T (p.Ser1586Ile)
c.1460G>T (p.Ser487Ile)
c.1505G>T (p.Ser502Ile)
c.4961G>T (p.Ser1654Ile)
c.1285G>T
c.1472G>T (p.Ser491Ile)
c.*4681G>T (n.*4681G>T)
n.51G>T
c.1211G>T (p.Ser404Ile)
c.5-7065G>T (n.5-7065G>T)
c.371G>T (p.Ser124Ile)
c.-98-20826G>T (n.-98-20826G>T)
n.5034G>T
n.5075G>T
 ClinVar dbSNP
17g.43071016C=CA2260772838BRCA1c.4895G= (p.Ser1632=)
c.4898G= (p.Ser1633=)
c.4772G= (p.Ser1591=)
c.4892G= (p.Ser1631=)
c.4820G= (p.Ser1607=)
c.1586G= (p.Ser529=)
c.1448G= (p.Ser483=)
c.4010G= (p.Ser1337=)
c.4775G= (p.Ser1592=)
c.4964G= (p.Ser1655=)
c.4757G= (p.Ser1586=)
c.1460G= (p.Ser487=)
c.1505G= (p.Ser502=)
c.4961G= (p.Ser1654=)
c.1285G=
c.1472G= (p.Ser491=)
c.*4681G= (n.*4681G=)
n.51G=
c.1211G= (p.Ser404=)
c.5-7065G= (n.5-7065G=)
c.371G= (p.Ser124=)
c.-98-20826G= (n.-98-20826G=)
n.5034G=
n.5075G=
17g.43071016C>GCA10591729BRCA1c.4895G>C (p.Ser1632Thr)
c.4898G>C (p.Ser1633Thr)
c.4772G>C (p.Ser1591Thr)
c.4892G>C (p.Ser1631Thr)
c.4820G>C (p.Ser1607Thr)
c.1586G>C (p.Ser529Thr)
c.1448G>C (p.Ser483Thr)
c.4010G>C (p.Ser1337Thr)
c.4775G>C (p.Ser1592Thr)
c.4964G>C (p.Ser1655Thr)
c.4757G>C (p.Ser1586Thr)
c.1460G>C (p.Ser487Thr)
c.1505G>C (p.Ser502Thr)
c.4961G>C (p.Ser1654Thr)
c.1285G>C
c.1472G>C (p.Ser491Thr)
c.*4681G>C (n.*4681G>C)
n.51G>C
c.1211G>C (p.Ser404Thr)
c.5-7065G>C (n.5-7065G>C)
c.371G>C (p.Ser124Thr)
c.-98-20826G>C (n.-98-20826G>C)
n.5034G>C
n.5075G>C
 ClinVar dbSNP
17g.43071016C>TCA10591730BRCA1c.4895G>A (p.Ser1632Asn)
c.4898G>A (p.Ser1633Asn)
c.4772G>A (p.Ser1591Asn)
c.4892G>A (p.Ser1631Asn)
c.4820G>A (p.Ser1607Asn)
c.1586G>A (p.Ser529Asn)
c.1448G>A (p.Ser483Asn)
c.4010G>A (p.Ser1337Asn)
c.4775G>A (p.Ser1592Asn)
c.4964G>A (p.Ser1655Asn)
c.4757G>A (p.Ser1586Asn)
c.1460G>A (p.Ser487Asn)
c.1505G>A (p.Ser502Asn)
c.4961G>A (p.Ser1654Asn)
c.1285G>A
c.1472G>A (p.Ser491Asn)
c.*4681G>A (n.*4681G>A)
n.51G>A
c.1211G>A (p.Ser404Asn)
c.5-7065G>A (n.5-7065G>A)
c.371G>A (p.Ser124Asn)
c.-98-20826G>A (n.-98-20826G>A)
n.5034G>A
n.5075G>A
 ClinVar dbSNP
17g.43071017T>ACA10591731BRCA1c.4894A>T (p.Ser1632Cys)
c.4897A>T (p.Ser1633Cys)
c.4771A>T (p.Ser1591Cys)
c.4891A>T (p.Ser1631Cys)
c.4819A>T (p.Ser1607Cys)
c.1585A>T (p.Ser529Cys)
c.1447A>T (p.Ser483Cys)
c.4009A>T (p.Ser1337Cys)
c.4774A>T (p.Ser1592Cys)
c.4963A>T (p.Ser1655Cys)
c.4756A>T (p.Ser1586Cys)
c.1459A>T (p.Ser487Cys)
c.1504A>T (p.Ser502Cys)
c.4960A>T (p.Ser1654Cys)
c.1284A>T
c.1471A>T (p.Ser491Cys)
c.*4680A>T (n.*4680A>T)
n.50A>T
c.1210A>T (p.Ser404Cys)
c.5-7066A>T (n.5-7066A>T)
c.370A>T (p.Ser124Cys)
c.-98-20827A>T (n.-98-20827A>T)
n.5033A>T
n.5074A>T
 ClinVar dbSNP
17g.43071017T>CCA10591732BRCA1c.4894A>G (p.Ser1632Gly)
c.4897A>G (p.Ser1633Gly)
c.4771A>G (p.Ser1591Gly)
c.4891A>G (p.Ser1631Gly)
c.4819A>G (p.Ser1607Gly)
c.1585A>G (p.Ser529Gly)
c.1447A>G (p.Ser483Gly)
c.4009A>G (p.Ser1337Gly)
c.4774A>G (p.Ser1592Gly)
c.4963A>G (p.Ser1655Gly)
c.4756A>G (p.Ser1586Gly)
c.1459A>G (p.Ser487Gly)
c.1504A>G (p.Ser502Gly)
c.4960A>G (p.Ser1654Gly)
c.1284A>G
c.1471A>G (p.Ser491Gly)
c.*4680A>G (n.*4680A>G)
n.50A>G
c.1210A>G (p.Ser404Gly)
c.5-7066A>G (n.5-7066A>G)
c.370A>G (p.Ser124Gly)
c.-98-20827A>G (n.-98-20827A>G)
n.5033A>G
n.5074A>G
 ClinVar dbSNP
17g.43071017T>GCA10591733BRCA1c.4894A>C (p.Ser1632Arg)
c.4897A>C (p.Ser1633Arg)
c.4771A>C (p.Ser1591Arg)
c.4891A>C (p.Ser1631Arg)
c.4819A>C (p.Ser1607Arg)
c.1585A>C (p.Ser529Arg)
c.1447A>C (p.Ser483Arg)
c.4009A>C (p.Ser1337Arg)
c.4774A>C (p.Ser1592Arg)
c.4963A>C (p.Ser1655Arg)
c.4756A>C (p.Ser1586Arg)
c.1459A>C (p.Ser487Arg)
c.1504A>C (p.Ser502Arg)
c.4960A>C (p.Ser1654Arg)
c.1284A>C
c.1471A>C (p.Ser491Arg)
c.*4680A>C (n.*4680A>C)
n.50A>C
c.1210A>C (p.Ser404Arg)
c.5-7066A>C (n.5-7066A>C)
c.370A>C (p.Ser124Arg)
c.-98-20827A>C (n.-98-20827A>C)
n.5033A>C
n.5074A>C
 ClinVar dbSNP
17g.43071017T=CA2260772840BRCA1c.4894A= (p.Ser1632=)
c.4897A= (p.Ser1633=)
c.4771A= (p.Ser1591=)
c.4891A= (p.Ser1631=)
c.4819A= (p.Ser1607=)
c.1585A= (p.Ser529=)
c.1447A= (p.Ser483=)
c.4009A= (p.Ser1337=)
c.4774A= (p.Ser1592=)
c.4963A= (p.Ser1655=)
c.4756A= (p.Ser1586=)
c.1459A= (p.Ser487=)
c.1504A= (p.Ser502=)
c.4960A= (p.Ser1654=)
c.1284A=
c.1471A= (p.Ser491=)
c.*4680A= (n.*4680A=)
n.50A=
c.1210A= (p.Ser404=)
c.5-7066A= (n.5-7066A=)
c.370A= (p.Ser124=)
c.-98-20827A= (n.-98-20827A=)
n.5033A=
n.5074A=
17g.43071017_43071019delinsTCACA2260772839BRCA1c.4892_4894delinsTGA (p.Val1631=)
c.4895_4897delinsTGA (p.Val1632=)
c.4769_4771delinsTGA (p.Val1590=)
c.4889_4891delinsTGA (p.Val1630=)
c.4817_4819delinsTGA (p.Val1606=)
c.1583_1585delinsTGA (p.Val528=)
c.1445_1447delinsTGA (p.Val482=)
c.4007_4009delinsTGA (p.Val1336=)
c.4772_4774delinsTGA (p.Val1591=)
c.4961_4963delinsTGA (p.Val1654=)
c.4754_4756delinsTGA (p.Val1585=)
c.1457_1459delinsTGA (p.Val486=)
c.1502_1504delinsTGA (p.Val501=)
c.4958_4960delinsTGA (p.Val1653=)
c.1282_1284delinsTGA
c.1469_1471delinsTGA (p.Val490=)
c.*4678_*4680delinsTGA (n.*4678_*4680delinsTGA)
n.48_50delinsTGA
c.1208_1210delinsTGA (p.Val403=)
c.5-7068_5-7066delinsTGA (n.5-7068_5-7066delinsTGA)
c.368_370delinsTGA (p.Val123=)
c.-98-20829_-98-20827delinsTGA (n.-98-20829_-98-20827delinsTGA)
n.5031_5033delinsTGA
n.5072_5074delinsTGA
17g.43071018delCA2695225905BRCA1c.4893del (p.Ser1632AlafsTer7)
c.4896del (p.Ser1633AlafsTer7)
c.4770del (p.Ser1591AlafsTer7)
c.4890del (p.Ser1631AlafsTer7)
c.4818del (p.Ser1607AlafsTer7)
c.1584del (p.Ser529AlafsTer7)
c.1446del (p.Ser483AlafsTer7)
c.4008del (p.Ser1337AlafsTer7)
c.4773del (p.Ser1592AlafsTer7)
c.4962del (p.Ser1655AlafsTer7)
c.4755del (p.Ser1586AlafsTer7)
c.1458del (p.Ser487AlafsTer7)
c.1503del (p.Ser502AlafsTer7)
c.4959del (p.Ser1654AlafsTer7)
c.1283del
c.1470del (p.Ser491AlafsTer7)
c.*4679del (n.*4679del)
n.49del
c.1209del (p.Ser404AlafsTer7)
c.5-7067del (n.5-7067del)
c.369del (p.Ser124AlafsTer7)
c.-98-20828del (n.-98-20828del)
n.5032del
n.5073del
17g.43071018C>ACA500231715BRCA1c.4893G>T (p.Val1631=)
c.4896G>T (p.Val1632=)
c.4770G>T (p.Val1590=)
c.4890G>T (p.Val1630=)
c.4818G>T (p.Val1606=)
c.1584G>T (p.Val528=)
c.1446G>T (p.Val482=)
c.4008G>T (p.Val1336=)
c.4773G>T (p.Val1591=)
c.4962G>T (p.Val1654=)
c.4755G>T (p.Val1585=)
c.1458G>T (p.Val486=)
c.1503G>T (p.Val501=)
c.4959G>T (p.Val1653=)
c.1283G>T
c.1470G>T (p.Val490=)
c.*4679G>T (n.*4679G>T)
n.49G>T
c.1209G>T (p.Val403=)
c.5-7067G>T (n.5-7067G>T)
c.369G>T (p.Val123=)
c.-98-20828G>T (n.-98-20828G>T)
n.5032G>T
n.5073G>T
 ClinVar dbSNP
17g.43071018C=CA2260772841BRCA1c.4893G= (p.Val1631=)
c.4896G= (p.Val1632=)
c.4770G= (p.Val1590=)
c.4890G= (p.Val1630=)
c.4818G= (p.Val1606=)
c.1584G= (p.Val528=)
c.1446G= (p.Val482=)
c.4008G= (p.Val1336=)
c.4773G= (p.Val1591=)
c.4962G= (p.Val1654=)
c.4755G= (p.Val1585=)
c.1458G= (p.Val486=)
c.1503G= (p.Val501=)
c.4959G= (p.Val1653=)
c.1283G=
c.1470G= (p.Val490=)
c.*4679G= (n.*4679G=)
n.49G=
c.1209G= (p.Val403=)
c.5-7067G= (n.5-7067G=)
c.369G= (p.Val123=)
c.-98-20828G= (n.-98-20828G=)
n.5032G=
n.5073G=
17g.43071018C>GCA500231718BRCA1c.4893G>C (p.Val1631=)
c.4896G>C (p.Val1632=)
c.4770G>C (p.Val1590=)
c.4890G>C (p.Val1630=)
c.4818G>C (p.Val1606=)
c.1584G>C (p.Val528=)
c.1446G>C (p.Val482=)
c.4008G>C (p.Val1336=)
c.4773G>C (p.Val1591=)
c.4962G>C (p.Val1654=)
c.4755G>C (p.Val1585=)
c.1458G>C (p.Val486=)
c.1503G>C (p.Val501=)
c.4959G>C (p.Val1653=)
c.1283G>C
c.1470G>C (p.Val490=)
c.*4679G>C (n.*4679G>C)
n.49G>C
c.1209G>C (p.Val403=)
c.5-7067G>C (n.5-7067G>C)
c.369G>C (p.Val123=)
c.-98-20828G>C (n.-98-20828G>C)
n.5032G>C
n.5073G>C
 ClinVar dbSNP
17g.43071018C>TCA500231720BRCA1c.4893G>A (p.Val1631=)
c.4896G>A (p.Val1632=)
c.4770G>A (p.Val1590=)
c.4890G>A (p.Val1630=)
c.4818G>A (p.Val1606=)
c.1584G>A (p.Val528=)
c.1446G>A (p.Val482=)
c.4008G>A (p.Val1336=)
c.4773G>A (p.Val1591=)
c.4962G>A (p.Val1654=)
c.4755G>A (p.Val1585=)
c.1458G>A (p.Val486=)
c.1503G>A (p.Val501=)
c.4959G>A (p.Val1653=)
c.1283G>A
c.1470G>A (p.Val490=)
c.*4679G>A (n.*4679G>A)
n.49G>A
c.1209G>A (p.Val403=)
c.5-7067G>A (n.5-7067G>A)
c.369G>A (p.Val123=)
c.-98-20828G>A (n.-98-20828G>A)
n.5032G>A
n.5073G>A
 ClinVar dbSNP gnomAD v4
17g.43071021_43071022delCA10586606BRCA1c.4892_4893del (p.Val1631GlufsTer?)
c.4895_4896del (p.Val1632GlufsTer?)
c.4769_4770del (p.Val1590GlufsTer?)
c.4889_4890del (p.Val1630GlufsTer?)
c.4817_4818del (p.Val1606GlufsTer?)
c.1583_1584del (p.Val528GlufsTer?)
c.1445_1446del (p.Val482GlufsTer?)
c.4007_4008del (p.Val1336GlufsTer?)
c.4772_4773del (p.Val1591GlufsTer?)
c.4961_4962del (p.Val1654GlufsTer?)
c.4754_4755del (p.Val1585GlufsTer?)
c.1457_1458del (p.Val486GlufsTer?)
c.1502_1503del (p.Val501GlufsTer?)
c.4958_4959del (p.Val1653GlufsTer?)
c.1282_1283del
c.1469_1470del (p.Val490GlufsTer?)
c.*4678_*4679del (n.*4678_*4679del)
n.48_49del
c.1208_1209del (p.Val403GlufsTer?)
c.5-7068_5-7067del (n.5-7068_5-7067del)
c.368_369del (p.Val123GlufsTer?)
c.-98-20829_-98-20828del (n.-98-20829_-98-20828del)
n.5031_5032del
n.5072_5073del
 ClinVar dbSNP
17g.43071019A=CA2260772842BRCA1c.4892T= (p.Val1631=)
c.4895T= (p.Val1632=)
c.4769T= (p.Val1590=)
c.4889T= (p.Val1630=)
c.4817T= (p.Val1606=)
c.1583T= (p.Val528=)
c.1445T= (p.Val482=)
c.4007T= (p.Val1336=)
c.4772T= (p.Val1591=)
c.4961T= (p.Val1654=)
c.4754T= (p.Val1585=)
c.1457T= (p.Val486=)
c.1502T= (p.Val501=)
c.4958T= (p.Val1653=)
c.1282T=
c.1469T= (p.Val490=)
c.*4678T= (n.*4678T=)
n.48T=
c.1208T= (p.Val403=)
c.5-7068T= (n.5-7068T=)
c.368T= (p.Val123=)
c.-98-20829T= (n.-98-20829T=)
n.5031T=
n.5072T=
17g.43071019A>CCA10591734BRCA1c.4892T>G (p.Val1631Gly)
c.4895T>G (p.Val1632Gly)
c.4769T>G (p.Val1590Gly)
c.4889T>G (p.Val1630Gly)
c.4817T>G (p.Val1606Gly)
c.1583T>G (p.Val528Gly)
c.1445T>G (p.Val482Gly)
c.4007T>G (p.Val1336Gly)
c.4772T>G (p.Val1591Gly)
c.4961T>G (p.Val1654Gly)
c.4754T>G (p.Val1585Gly)
c.1457T>G (p.Val486Gly)
c.1502T>G (p.Val501Gly)
c.4958T>G (p.Val1653Gly)
c.1282T>G
c.1469T>G (p.Val490Gly)
c.*4678T>G (n.*4678T>G)
n.48T>G
c.1208T>G (p.Val403Gly)
c.5-7068T>G (n.5-7068T>G)
c.368T>G (p.Val123Gly)
c.-98-20829T>G (n.-98-20829T>G)
n.5031T>G
n.5072T>G
 ClinVar dbSNP
17g.43071019A>GCA10591735BRCA1c.4892T>C (p.Val1631Ala)
c.4895T>C (p.Val1632Ala)
c.4769T>C (p.Val1590Ala)
c.4889T>C (p.Val1630Ala)
c.4817T>C (p.Val1606Ala)
c.1583T>C (p.Val528Ala)
c.1445T>C (p.Val482Ala)
c.4007T>C (p.Val1336Ala)
c.4772T>C (p.Val1591Ala)
c.4961T>C (p.Val1654Ala)
c.4754T>C (p.Val1585Ala)
c.1457T>C (p.Val486Ala)
c.1502T>C (p.Val501Ala)
c.4958T>C (p.Val1653Ala)
c.1282T>C
c.1469T>C (p.Val490Ala)
c.*4678T>C (n.*4678T>C)
n.48T>C
c.1208T>C (p.Val403Ala)
c.5-7068T>C (n.5-7068T>C)
c.368T>C (p.Val123Ala)
c.-98-20829T>C (n.-98-20829T>C)
n.5031T>C
n.5072T>C
 ClinVar dbSNP
17g.43071019A>TCA10591736BRCA1c.4892T>A (p.Val1631Glu)
c.4895T>A (p.Val1632Glu)
c.4769T>A (p.Val1590Glu)
c.4889T>A (p.Val1630Glu)
c.4817T>A (p.Val1606Glu)
c.1583T>A (p.Val528Glu)
c.1445T>A (p.Val482Glu)
c.4007T>A (p.Val1336Glu)
c.4772T>A (p.Val1591Glu)
c.4961T>A (p.Val1654Glu)
c.4754T>A (p.Val1585Glu)
c.1457T>A (p.Val486Glu)
c.1502T>A (p.Val501Glu)
c.4958T>A (p.Val1653Glu)
c.1282T>A
c.1469T>A (p.Val490Glu)
c.*4678T>A (n.*4678T>A)
n.48T>A
c.1208T>A (p.Val403Glu)
c.5-7068T>A (n.5-7068T>A)
c.368T>A (p.Val123Glu)
c.-98-20829T>A (n.-98-20829T>A)
n.5031T>A
n.5072T>A
 ClinVar dbSNP
17g.43071020C>ACA003070BRCA1c.4891G>T (p.Val1631Leu)
c.4894G>T (p.Val1632Leu)
c.4768G>T (p.Val1590Leu)
c.4888G>T (p.Val1630Leu)
c.4816G>T (p.Val1606Leu)
c.1582G>T (p.Val528Leu)
c.1444G>T (p.Val482Leu)
c.4006G>T (p.Val1336Leu)
c.4771G>T (p.Val1591Leu)
c.4960G>T (p.Val1654Leu)
c.4753G>T (p.Val1585Leu)
c.1456G>T (p.Val486Leu)
c.1501G>T (p.Val501Leu)
c.4957G>T (p.Val1653Leu)
c.1281G>T
c.1468G>T (p.Val490Leu)
c.*4677G>T (n.*4677G>T)
n.47G>T
c.1207G>T (p.Val403Leu)
c.5-7069G>T (n.5-7069G>T)
c.367G>T (p.Val123Leu)
c.-98-20830G>T (n.-98-20830G>T)
n.5030G>T
n.5071G>T
 ClinVar dbSNP
17g.43071020C=CA2260772843BRCA1c.4891G= (p.Val1631=)
c.4894G= (p.Val1632=)
c.4768G= (p.Val1590=)
c.4888G= (p.Val1630=)
c.4816G= (p.Val1606=)
c.1582G= (p.Val528=)
c.1444G= (p.Val482=)
c.4006G= (p.Val1336=)
c.4771G= (p.Val1591=)
c.4960G= (p.Val1654=)
c.4753G= (p.Val1585=)
c.1456G= (p.Val486=)
c.1501G= (p.Val501=)
c.4957G= (p.Val1653=)
c.1281G=
c.1468G= (p.Val490=)
c.*4677G= (n.*4677G=)
n.47G=
c.1207G= (p.Val403=)
c.5-7069G= (n.5-7069G=)
c.367G= (p.Val123=)
c.-98-20830G= (n.-98-20830G=)
n.5030G=
n.5071G=
17g.43071020C>GCA10591737BRCA1c.4891G>C (p.Val1631Leu)
c.4894G>C (p.Val1632Leu)
c.4768G>C (p.Val1590Leu)
c.4888G>C (p.Val1630Leu)
c.4816G>C (p.Val1606Leu)
c.1582G>C (p.Val528Leu)
c.1444G>C (p.Val482Leu)
c.4006G>C (p.Val1336Leu)
c.4771G>C (p.Val1591Leu)
c.4960G>C (p.Val1654Leu)
c.4753G>C (p.Val1585Leu)
c.1456G>C (p.Val486Leu)
c.1501G>C (p.Val501Leu)
c.4957G>C (p.Val1653Leu)
c.1281G>C
c.1468G>C (p.Val490Leu)
c.*4677G>C (n.*4677G>C)
n.47G>C
c.1207G>C (p.Val403Leu)
c.5-7069G>C (n.5-7069G>C)
c.367G>C (p.Val123Leu)
c.-98-20830G>C (n.-98-20830G>C)
n.5030G>C
n.5071G>C
 ClinVar dbSNP gnomAD v4
17g.43071020C>TCA053429BRCA1c.4891G>A (p.Val1631Met)
c.4894G>A (p.Val1632Met)
c.4768G>A (p.Val1590Met)
c.4888G>A (p.Val1630Met)
c.4816G>A (p.Val1606Met)
c.1582G>A (p.Val528Met)
c.1444G>A (p.Val482Met)
c.4006G>A (p.Val1336Met)
c.4771G>A (p.Val1591Met)
c.4960G>A (p.Val1654Met)
c.4753G>A (p.Val1585Met)
c.1456G>A (p.Val486Met)
c.1501G>A (p.Val501Met)
c.4957G>A (p.Val1653Met)
c.1281G>A
c.1468G>A (p.Val490Met)
c.*4677G>A (n.*4677G>A)
n.47G>A
c.1207G>A (p.Val403Met)
c.5-7069G>A (n.5-7069G>A)
c.367G>A (p.Val123Met)
c.-98-20830G>A (n.-98-20830G>A)
n.5030G>A
n.5071G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43071020_43071027delinsCACTTTCTCA2260772844BRCA1c.4884_4891delinsAGAAAGTG (p.Glu1628=)
c.4887_4894delinsAGAAAGTG (p.Glu1629=)
c.4761_4768delinsAGAAAGTG (p.Glu1587=)
c.4881_4888delinsAGAAAGTG (p.Glu1627=)
c.4809_4816delinsAGAAAGTG (p.Glu1603=)
c.1575_1582delinsAGAAAGTG (p.Glu525=)
c.1437_1444delinsAGAAAGTG (p.Glu479=)
c.3999_4006delinsAGAAAGTG (p.Glu1333=)
c.4764_4771delinsAGAAAGTG (p.Glu1588=)
c.4953_4960delinsAGAAAGTG (p.Glu1651=)
c.4746_4753delinsAGAAAGTG (p.Glu1582=)
c.1449_1456delinsAGAAAGTG (p.Glu483=)
c.1494_1501delinsAGAAAGTG (p.Glu498=)
c.4950_4957delinsAGAAAGTG (p.Glu1650=)
c.1274_1281delinsAGAAAGTG
c.1461_1468delinsAGAAAGTG (p.Glu487=)
c.*4670_*4677delinsAGAAAGTG (n.*4670_*4677delinsAGAAAGTG)
n.40_47delinsAGAAAGTG
c.1200_1207delinsAGAAAGTG (p.Glu400=)
c.5-7076_5-7069delinsAGAAAGTG (n.5-7076_5-7069delinsAGAAAGTG)
c.360_367delinsAGAAAGTG (p.Glu120=)
c.-98-20837_-98-20830delinsAGAAAGTG (n.-98-20837_-98-20830delinsAGAAAGTG)
n.5023_5030delinsAGAAAGTG
n.5064_5071delinsAGAAAGTG
17g.43071021A=CA2260772845BRCA1c.4890T= (p.Ser1630=)
c.4893T= (p.Ser1631=)
c.4767T= (p.Ser1589=)
c.4887T= (p.Ser1629=)
c.4815T= (p.Ser1605=)
c.1581T= (p.Ser527=)
c.1443T= (p.Ser481=)
c.4005T= (p.Ser1335=)
c.4770T= (p.Ser1590=)
c.4959T= (p.Ser1653=)
c.4752T= (p.Ser1584=)
c.1455T= (p.Ser485=)
c.1500T= (p.Ser500=)
c.4956T= (p.Ser1652=)
c.1280T=
c.1467T= (p.Ser489=)
c.*4676T= (n.*4676T=)
n.46T=
c.1206T= (p.Ser402=)
c.5-7070T= (n.5-7070T=)
c.366T= (p.Ser122=)
c.-98-20831T= (n.-98-20831T=)
n.5029T=
n.5070T=
17g.43071021A>CCA10591738BRCA1c.4890T>G (p.Ser1630Arg)
c.4893T>G (p.Ser1631Arg)
c.4767T>G (p.Ser1589Arg)
c.4887T>G (p.Ser1629Arg)
c.4815T>G (p.Ser1605Arg)
c.1581T>G (p.Ser527Arg)
c.1443T>G (p.Ser481Arg)
c.4005T>G (p.Ser1335Arg)
c.4770T>G (p.Ser1590Arg)
c.4959T>G (p.Ser1653Arg)
c.4752T>G (p.Ser1584Arg)
c.1455T>G (p.Ser485Arg)
c.1500T>G (p.Ser500Arg)
c.4956T>G (p.Ser1652Arg)
c.1280T>G
c.1467T>G (p.Ser489Arg)
c.*4676T>G (n.*4676T>G)
n.46T>G
c.1206T>G (p.Ser402Arg)
c.5-7070T>G (n.5-7070T>G)
c.366T>G (p.Ser122Arg)
c.-98-20831T>G (n.-98-20831T>G)
n.5029T>G
n.5070T>G
 ClinVar dbSNP
17g.43071021A>GCA003068BRCA1c.4890T>C (p.Ser1630=)
c.4893T>C (p.Ser1631=)
c.4767T>C (p.Ser1589=)
c.4887T>C (p.Ser1629=)
c.4815T>C (p.Ser1605=)
c.1581T>C (p.Ser527=)
c.1443T>C (p.Ser481=)
c.4005T>C (p.Ser1335=)
c.4770T>C (p.Ser1590=)
c.4959T>C (p.Ser1653=)
c.4752T>C (p.Ser1584=)
c.1455T>C (p.Ser485=)
c.1500T>C (p.Ser500=)
c.4956T>C (p.Ser1652=)
c.1280T>C
c.1467T>C (p.Ser489=)
c.*4676T>C (n.*4676T>C)
n.46T>C
c.1206T>C (p.Ser402=)
c.5-7070T>C (n.5-7070T>C)
c.366T>C (p.Ser122=)
c.-98-20831T>C (n.-98-20831T>C)
n.5029T>C
n.5070T>C
 ClinVar dbSNP
17g.43071021A>TCA10591739BRCA1c.4890T>A (p.Ser1630Arg)
c.4893T>A (p.Ser1631Arg)
c.4767T>A (p.Ser1589Arg)
c.4887T>A (p.Ser1629Arg)
c.4815T>A (p.Ser1605Arg)
c.1581T>A (p.Ser527Arg)
c.1443T>A (p.Ser481Arg)
c.4005T>A (p.Ser1335Arg)
c.4770T>A (p.Ser1590Arg)
c.4959T>A (p.Ser1653Arg)
c.4752T>A (p.Ser1584Arg)
c.1455T>A (p.Ser485Arg)
c.1500T>A (p.Ser500Arg)
c.4956T>A (p.Ser1652Arg)
c.1280T>A
c.1467T>A (p.Ser489Arg)
c.*4676T>A (n.*4676T>A)
n.46T>A
c.1206T>A (p.Ser402Arg)
c.5-7070T>A (n.5-7070T>A)
c.366T>A (p.Ser122Arg)
c.-98-20831T>A (n.-98-20831T>A)
n.5029T>A
n.5070T>A
 ClinVar dbSNP
17g.43071021_43071027delCA10589637BRCA1c.4884_4890del (p.Glu1629Ter)
c.4887_4893del (p.Glu1630Ter)
c.4761_4767del (p.Glu1588Ter)
c.4881_4887del (p.Glu1628Ter)
c.4809_4815del (p.Glu1604Ter)
c.1575_1581del (p.Glu526Ter)
c.1437_1443del (p.Glu480Ter)
c.3999_4005del (p.Glu1334Ter)
c.4764_4770del (p.Glu1589Ter)
c.4953_4959del (p.Glu1652Ter)
c.4746_4752del (p.Glu1583Ter)
c.1449_1455del (p.Glu484Ter)
c.1494_1500del (p.Glu499Ter)
c.4950_4956del (p.Glu1651Ter)
c.1274_1280del
c.1461_1467del (p.Glu488Ter)
c.*4670_*4676del (n.*4670_*4676del)
n.40_46del
c.1200_1206del (p.Glu401Ter)
c.5-7076_5-7070del (n.5-7076_5-7070del)
c.360_366del (p.Glu121Ter)
c.-98-20837_-98-20831del (n.-98-20837_-98-20831del)
n.5023_5029del
n.5064_5070del
 ClinVar dbSNP
17g.43071022C>ACA10591740BRCA1c.4889G>T (p.Ser1630Ile)
c.4892G>T (p.Ser1631Ile)
c.4766G>T (p.Ser1589Ile)
c.4886G>T (p.Ser1629Ile)
c.4814G>T (p.Ser1605Ile)
c.1580G>T (p.Ser527Ile)
c.1442G>T (p.Ser481Ile)
c.4004G>T (p.Ser1335Ile)
c.4769G>T (p.Ser1590Ile)
c.4958G>T (p.Ser1653Ile)
c.4751G>T (p.Ser1584Ile)
c.1454G>T (p.Ser485Ile)
c.1499G>T (p.Ser500Ile)
c.4955G>T (p.Ser1652Ile)
c.1279G>T
c.1466G>T (p.Ser489Ile)
c.*4675G>T (n.*4675G>T)
n.45G>T
c.1205G>T (p.Ser402Ile)
c.5-7071G>T (n.5-7071G>T)
c.365G>T (p.Ser122Ile)
c.-98-20832G>T (n.-98-20832G>T)
n.5028G>T
n.5069G>T
 ClinVar dbSNP gnomAD v4
17g.43071022C=CA2260772846BRCA1c.4889G= (p.Ser1630=)
c.4892G= (p.Ser1631=)
c.4766G= (p.Ser1589=)
c.4886G= (p.Ser1629=)
c.4814G= (p.Ser1605=)
c.1580G= (p.Ser527=)
c.1442G= (p.Ser481=)
c.4004G= (p.Ser1335=)
c.4769G= (p.Ser1590=)
c.4958G= (p.Ser1653=)
c.4751G= (p.Ser1584=)
c.1454G= (p.Ser485=)
c.1499G= (p.Ser500=)
c.4955G= (p.Ser1652=)
c.1279G=
c.1466G= (p.Ser489=)
c.*4675G= (n.*4675G=)
n.45G=
c.1205G= (p.Ser402=)
c.5-7071G= (n.5-7071G=)
c.365G= (p.Ser122=)
c.-98-20832G= (n.-98-20832G=)
n.5028G=
n.5069G=
17g.43071022C>GCA10591741BRCA1c.4889G>C (p.Ser1630Thr)
c.4892G>C (p.Ser1631Thr)
c.4766G>C (p.Ser1589Thr)
c.4886G>C (p.Ser1629Thr)
c.4814G>C (p.Ser1605Thr)
c.1580G>C (p.Ser527Thr)
c.1442G>C (p.Ser481Thr)
c.4004G>C (p.Ser1335Thr)
c.4769G>C (p.Ser1590Thr)
c.4958G>C (p.Ser1653Thr)
c.4751G>C (p.Ser1584Thr)
c.1454G>C (p.Ser485Thr)
c.1499G>C (p.Ser500Thr)
c.4955G>C (p.Ser1652Thr)
c.1279G>C
c.1466G>C (p.Ser489Thr)
c.*4675G>C (n.*4675G>C)
n.45G>C
c.1205G>C (p.Ser402Thr)
c.5-7071G>C (n.5-7071G>C)
c.365G>C (p.Ser122Thr)
c.-98-20832G>C (n.-98-20832G>C)
n.5028G>C
n.5069G>C
 ClinVar dbSNP
17g.43071022C>TCA003067BRCA1c.4889G>A (p.Ser1630Asn)
c.4892G>A (p.Ser1631Asn)
c.4766G>A (p.Ser1589Asn)
c.4886G>A (p.Ser1629Asn)
c.4814G>A (p.Ser1605Asn)
c.1580G>A (p.Ser527Asn)
c.1442G>A (p.Ser481Asn)
c.4004G>A (p.Ser1335Asn)
c.4769G>A (p.Ser1590Asn)
c.4958G>A (p.Ser1653Asn)
c.4751G>A (p.Ser1584Asn)
c.1454G>A (p.Ser485Asn)
c.1499G>A (p.Ser500Asn)
c.4955G>A (p.Ser1652Asn)
c.1279G>A
c.1466G>A (p.Ser489Asn)
c.*4675G>A (n.*4675G>A)
n.45G>A
c.1205G>A (p.Ser402Asn)
c.5-7071G>A (n.5-7071G>A)
c.365G>A (p.Ser122Asn)
c.-98-20832G>A (n.-98-20832G>A)
n.5028G>A
n.5069G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43071022_43071023delinsCTCA2260772847BRCA1c.4888_4889delinsAG (p.Ser1630=)
c.4891_4892delinsAG (p.Ser1631=)
c.4765_4766delinsAG (p.Ser1589=)
c.4885_4886delinsAG (p.Ser1629=)
c.4813_4814delinsAG (p.Ser1605=)
c.1579_1580delinsAG (p.Ser527=)
c.1441_1442delinsAG (p.Ser481=)
c.4003_4004delinsAG (p.Ser1335=)
c.4768_4769delinsAG (p.Ser1590=)
c.4957_4958delinsAG (p.Ser1653=)
c.4750_4751delinsAG (p.Ser1584=)
c.1453_1454delinsAG (p.Ser485=)
c.1498_1499delinsAG (p.Ser500=)
c.4954_4955delinsAG (p.Ser1652=)
c.1278_1279delinsAG
c.1465_1466delinsAG (p.Ser489=)
c.*4674_*4675delinsAG (n.*4674_*4675delinsAG)
n.44_45delinsAG
c.1204_1205delinsAG (p.Ser402=)
c.5-7072_5-7071delinsAG (n.5-7072_5-7071delinsAG)
c.364_365delinsAG (p.Ser122=)
c.-98-20833_-98-20832delinsAG (n.-98-20833_-98-20832delinsAG)
n.5027_5028delinsAG
n.5068_5069delinsAG
17g.43071023T>ACA003066BRCA1c.4888A>T (p.Ser1630Cys)
c.4891A>T (p.Ser1631Cys)
c.4765A>T (p.Ser1589Cys)
c.4885A>T (p.Ser1629Cys)
c.4813A>T (p.Ser1605Cys)
c.1579A>T (p.Ser527Cys)
c.1441A>T (p.Ser481Cys)
c.4003A>T (p.Ser1335Cys)
c.4768A>T (p.Ser1590Cys)
c.4957A>T (p.Ser1653Cys)
c.4750A>T (p.Ser1584Cys)
c.1453A>T (p.Ser485Cys)
c.1498A>T (p.Ser500Cys)
c.4954A>T (p.Ser1652Cys)
c.1278A>T
c.1465A>T (p.Ser489Cys)
c.*4674A>T (n.*4674A>T)
n.44A>T
c.1204A>T (p.Ser402Cys)
c.5-7072A>T (n.5-7072A>T)
c.364A>T (p.Ser122Cys)
c.-98-20833A>T (n.-98-20833A>T)
n.5027A>T
n.5068A>T
 ClinVar dbSNP
17g.43071023T>CCA10591742BRCA1c.4888A>G (p.Ser1630Gly)
c.4891A>G (p.Ser1631Gly)
c.4765A>G (p.Ser1589Gly)
c.4885A>G (p.Ser1629Gly)
c.4813A>G (p.Ser1605Gly)
c.1579A>G (p.Ser527Gly)
c.1441A>G (p.Ser481Gly)
c.4003A>G (p.Ser1335Gly)
c.4768A>G (p.Ser1590Gly)
c.4957A>G (p.Ser1653Gly)
c.4750A>G (p.Ser1584Gly)
c.1453A>G (p.Ser485Gly)
c.1498A>G (p.Ser500Gly)
c.4954A>G (p.Ser1652Gly)
c.1278A>G
c.1465A>G (p.Ser489Gly)
c.*4674A>G (n.*4674A>G)
n.44A>G
c.1204A>G (p.Ser402Gly)
c.5-7072A>G (n.5-7072A>G)
c.364A>G (p.Ser122Gly)
c.-98-20833A>G (n.-98-20833A>G)
n.5027A>G
n.5068A>G
 ClinVar dbSNP
17g.43071023T>GCA10591743BRCA1c.4888A>C (p.Ser1630Arg)
c.4891A>C (p.Ser1631Arg)
c.4765A>C (p.Ser1589Arg)
c.4885A>C (p.Ser1629Arg)
c.4813A>C (p.Ser1605Arg)
c.1579A>C (p.Ser527Arg)
c.1441A>C (p.Ser481Arg)
c.4003A>C (p.Ser1335Arg)
c.4768A>C (p.Ser1590Arg)
c.4957A>C (p.Ser1653Arg)
c.4750A>C (p.Ser1584Arg)
c.1453A>C (p.Ser485Arg)
c.1498A>C (p.Ser500Arg)
c.4954A>C (p.Ser1652Arg)
c.1278A>C
c.1465A>C (p.Ser489Arg)
c.*4674A>C (n.*4674A>C)
n.44A>C
c.1204A>C (p.Ser402Arg)
c.5-7072A>C (n.5-7072A>C)
c.364A>C (p.Ser122Arg)
c.-98-20833A>C (n.-98-20833A>C)
n.5027A>C
n.5068A>C
 ClinVar dbSNP
17g.43071023T=CA2260772848BRCA1c.4888A= (p.Ser1630=)
c.4891A= (p.Ser1631=)
c.4765A= (p.Ser1589=)
c.4885A= (p.Ser1629=)
c.4813A= (p.Ser1605=)
c.1579A= (p.Ser527=)
c.1441A= (p.Ser481=)
c.4003A= (p.Ser1335=)
c.4768A= (p.Ser1590=)
c.4957A= (p.Ser1653=)
c.4750A= (p.Ser1584=)
c.1453A= (p.Ser485=)
c.1498A= (p.Ser500=)
c.4954A= (p.Ser1652=)
c.1278A=
c.1465A= (p.Ser489=)
c.*4674A= (n.*4674A=)
n.44A=
c.1204A= (p.Ser402=)
c.5-7072A= (n.5-7072A=)
c.364A= (p.Ser122=)
c.-98-20833A= (n.-98-20833A=)
n.5027A=
n.5068A=
17g.43071025dupCA003065BRCA1c.4888dup (p.Ser1630LysfsTer?)
c.4891dup (p.Ser1631LysfsTer?)
c.4765dup (p.Ser1589LysfsTer?)
c.4885dup (p.Ser1629LysfsTer?)
c.4813dup (p.Ser1605LysfsTer?)
c.1579dup (p.Ser527LysfsTer?)
c.1441dup (p.Ser481LysfsTer?)
c.4003dup (p.Ser1335LysfsTer?)
c.4768dup (p.Ser1590LysfsTer?)
c.4957dup (p.Ser1653LysfsTer?)
c.4750dup (p.Ser1584LysfsTer?)
c.1453dup (p.Ser485LysfsTer?)
c.1498dup (p.Ser500LysfsTer?)
c.4954dup (p.Ser1652LysfsTer?)
c.1278dup
c.1465dup (p.Ser489LysfsTer?)
c.*4674dup (n.*4674dup)
n.44dup
c.1204dup (p.Ser402LysfsTer?)
c.5-7072dup (n.5-7072dup)
c.364dup (p.Ser122LysfsTer?)
c.-98-20833dup (n.-98-20833dup)
n.5027dup
n.5068dup
 ClinVar dbSNP
17g.43071025delCA10589638BRCA1c.4888del (p.Ser1630ValfsTer2)
c.4891del (p.Ser1631ValfsTer2)
c.4765del (p.Ser1589ValfsTer2)
c.4885del (p.Ser1629ValfsTer2)
c.4813del (p.Ser1605ValfsTer2)
c.1579del (p.Ser527ValfsTer2)
c.1441del (p.Ser481ValfsTer2)
c.4003del (p.Ser1335ValfsTer2)
c.4768del (p.Ser1590ValfsTer2)
c.4957del (p.Ser1653ValfsTer2)
c.4750del (p.Ser1584ValfsTer2)
c.1453del (p.Ser485ValfsTer2)
c.1498del (p.Ser500ValfsTer2)
c.4954del (p.Ser1652ValfsTer2)
c.1278del
c.1465del (p.Ser489ValfsTer2)
c.*4674del (n.*4674del)
n.44del
c.1204del (p.Ser402ValfsTer2)
c.5-7072del (n.5-7072del)
c.364del (p.Ser122ValfsTer2)
c.-98-20833del (n.-98-20833del)
n.5027del
n.5068del
 ClinVar dbSNP
17g.43071024T>ACA10591744BRCA1c.4887A>T (p.Glu1629Asp)
c.4890A>T (p.Glu1630Asp)
c.4764A>T (p.Glu1588Asp)
c.4884A>T (p.Glu1628Asp)
c.4812A>T (p.Glu1604Asp)
c.1578A>T (p.Glu526Asp)
c.1440A>T (p.Glu480Asp)
c.4002A>T (p.Glu1334Asp)
c.4767A>T (p.Glu1589Asp)
c.4956A>T (p.Glu1652Asp)
c.4749A>T (p.Glu1583Asp)
c.1452A>T (p.Glu484Asp)
c.1497A>T (p.Glu499Asp)
c.4953A>T (p.Glu1651Asp)
c.1277A>T
c.1464A>T (p.Glu488Asp)
c.*4673A>T (n.*4673A>T)
n.43A>T
c.1203A>T (p.Glu401Asp)
c.5-7073A>T (n.5-7073A>T)
c.363A>T (p.Glu121Asp)
c.-98-20834A>T (n.-98-20834A>T)
n.5026A>T
n.5067A>T
 dbSNP
17g.43071024T>CCA500231736BRCA1c.4887A>G (p.Glu1629=)
c.4890A>G (p.Glu1630=)
c.4764A>G (p.Glu1588=)
c.4884A>G (p.Glu1628=)
c.4812A>G (p.Glu1604=)
c.1578A>G (p.Glu526=)
c.1440A>G (p.Glu480=)
c.4002A>G (p.Glu1334=)
c.4767A>G (p.Glu1589=)
c.4956A>G (p.Glu1652=)
c.4749A>G (p.Glu1583=)
c.1452A>G (p.Glu484=)
c.1497A>G (p.Glu499=)
c.4953A>G (p.Glu1651=)
c.1277A>G
c.1464A>G (p.Glu488=)
c.*4673A>G (n.*4673A>G)
n.43A>G
c.1203A>G (p.Glu401=)
c.5-7073A>G (n.5-7073A>G)
c.363A>G (p.Glu121=)
c.-98-20834A>G (n.-98-20834A>G)
n.5026A>G
n.5067A>G
 ClinVar dbSNP
17g.43071024T>GCA10591745BRCA1c.4887A>C (p.Glu1629Asp)
c.4890A>C (p.Glu1630Asp)
c.4764A>C (p.Glu1588Asp)
c.4884A>C (p.Glu1628Asp)
c.4812A>C (p.Glu1604Asp)
c.1578A>C (p.Glu526Asp)
c.1440A>C (p.Glu480Asp)
c.4002A>C (p.Glu1334Asp)
c.4767A>C (p.Glu1589Asp)
c.4956A>C (p.Glu1652Asp)
c.4749A>C (p.Glu1583Asp)
c.1452A>C (p.Glu484Asp)
c.1497A>C (p.Glu499Asp)
c.4953A>C (p.Glu1651Asp)
c.1277A>C
c.1464A>C (p.Glu488Asp)
c.*4673A>C (n.*4673A>C)
n.43A>C
c.1203A>C (p.Glu401Asp)
c.5-7073A>C (n.5-7073A>C)
c.363A>C (p.Glu121Asp)
c.-98-20834A>C (n.-98-20834A>C)
n.5026A>C
n.5067A>C
17g.43071024_43071026delinsTTCCA2260772849BRCA1c.4885_4887delinsGAA (p.Glu1629=)
c.4888_4890delinsGAA (p.Glu1630=)
c.4762_4764delinsGAA (p.Glu1588=)
c.4882_4884delinsGAA (p.Glu1628=)
c.4810_4812delinsGAA (p.Glu1604=)
c.1576_1578delinsGAA (p.Glu526=)
c.1438_1440delinsGAA (p.Glu480=)
c.4000_4002delinsGAA (p.Glu1334=)
c.4765_4767delinsGAA (p.Glu1589=)
c.4954_4956delinsGAA (p.Glu1652=)
c.4747_4749delinsGAA (p.Glu1583=)
c.1450_1452delinsGAA (p.Glu484=)
c.1495_1497delinsGAA (p.Glu499=)
c.4951_4953delinsGAA (p.Glu1651=)
c.1275_1277delinsGAA
c.1462_1464delinsGAA (p.Glu488=)
c.*4671_*4673delinsGAA (n.*4671_*4673delinsGAA)
n.41_43delinsGAA
c.1201_1203delinsGAA (p.Glu401=)
c.5-7075_5-7073delinsGAA (n.5-7075_5-7073delinsGAA)
c.361_363delinsGAA (p.Glu121=)
c.-98-20836_-98-20834delinsGAA (n.-98-20836_-98-20834delinsGAA)
n.5024_5026delinsGAA
n.5065_5067delinsGAA
17g.43071026_43071033delCA2582342171BRCA1c.4880_4887del (p.Met1627LysfsTer?)
c.4883_4890del (p.Met1628LysfsTer?)
c.4757_4764del (p.Met1586LysfsTer?)
c.4877_4884del (p.Met1626LysfsTer?)
c.4805_4812del (p.Met1602LysfsTer?)
c.1571_1578del (p.Met524LysfsTer?)
c.1433_1440del (p.Met478LysfsTer?)
c.3995_4002del (p.Met1332LysfsTer?)
c.4760_4767del (p.Met1587LysfsTer?)
c.4949_4956del (p.Met1650LysfsTer?)
c.4742_4749del (p.Met1581LysfsTer?)
c.1445_1452del (p.Met482LysfsTer?)
c.1490_1497del (p.Met497LysfsTer?)
c.4946_4953del (p.Met1649LysfsTer?)
c.1270_1277del
c.1457_1464del (p.Met486LysfsTer?)
c.*4666_*4673del (n.*4666_*4673del)
n.36_43del
c.1196_1203del (p.Met399LysfsTer?)
c.5-7080_5-7073del (n.5-7080_5-7073del)
c.356_363del (p.Met119LysfsTer?)
c.-98-20841_-98-20834del (n.-98-20841_-98-20834del)
n.5019_5026del
n.5060_5067del
 ClinVar
17g.43071025T>ACA10591746BRCA1c.4886A>T (p.Glu1629Val)
c.4889A>T (p.Glu1630Val)
c.4763A>T (p.Glu1588Val)
c.4883A>T (p.Glu1628Val)
c.4811A>T (p.Glu1604Val)
c.1577A>T (p.Glu526Val)
c.1439A>T (p.Glu480Val)
c.4001A>T (p.Glu1334Val)
c.4766A>T (p.Glu1589Val)
c.4955A>T (p.Glu1652Val)
c.4748A>T (p.Glu1583Val)
c.1451A>T (p.Glu484Val)
c.1496A>T (p.Glu499Val)
c.4952A>T (p.Glu1651Val)
c.1276A>T
c.1463A>T (p.Glu488Val)
c.*4672A>T (n.*4672A>T)
n.42A>T
c.1202A>T (p.Glu401Val)
c.5-7074A>T (n.5-7074A>T)
c.362A>T (p.Glu121Val)
c.-98-20835A>T (n.-98-20835A>T)
n.5025A>T
n.5066A>T
17g.43071025T>CCA10591747BRCA1c.4886A>G (p.Glu1629Gly)
c.4889A>G (p.Glu1630Gly)
c.4763A>G (p.Glu1588Gly)
c.4883A>G (p.Glu1628Gly)
c.4811A>G (p.Glu1604Gly)
c.1577A>G (p.Glu526Gly)
c.1439A>G (p.Glu480Gly)
c.4001A>G (p.Glu1334Gly)
c.4766A>G (p.Glu1589Gly)
c.4955A>G (p.Glu1652Gly)
c.4748A>G (p.Glu1583Gly)
c.1451A>G (p.Glu484Gly)
c.1496A>G (p.Glu499Gly)
c.4952A>G (p.Glu1651Gly)
c.1276A>G
c.1463A>G (p.Glu488Gly)
c.*4672A>G (n.*4672A>G)
n.42A>G
c.1202A>G (p.Glu401Gly)
c.5-7074A>G (n.5-7074A>G)
c.362A>G (p.Glu121Gly)
c.-98-20835A>G (n.-98-20835A>G)
n.5025A>G
n.5066A>G
 ClinVar dbSNP gnomAD v4
17g.43071025T>GCA10591748BRCA1c.4886A>C (p.Glu1629Ala)
c.4889A>C (p.Glu1630Ala)
c.4763A>C (p.Glu1588Ala)
c.4883A>C (p.Glu1628Ala)
c.4811A>C (p.Glu1604Ala)
c.1577A>C (p.Glu526Ala)
c.1439A>C (p.Glu480Ala)
c.4001A>C (p.Glu1334Ala)
c.4766A>C (p.Glu1589Ala)
c.4955A>C (p.Glu1652Ala)
c.4748A>C (p.Glu1583Ala)
c.1451A>C (p.Glu484Ala)
c.1496A>C (p.Glu499Ala)
c.4952A>C (p.Glu1651Ala)
c.1276A>C
c.1463A>C (p.Glu488Ala)
c.*4672A>C (n.*4672A>C)
n.42A>C
c.1202A>C (p.Glu401Ala)
c.5-7074A>C (n.5-7074A>C)
c.362A>C (p.Glu121Ala)
c.-98-20835A>C (n.-98-20835A>C)
n.5025A>C
n.5066A>C
17g.43071026_43071027delCA10586110BRCA1c.4885_4886del (p.Glu1629LysfsTer?)
c.4888_4889del (p.Glu1630LysfsTer?)
c.4762_4763del (p.Glu1588LysfsTer?)
c.4882_4883del (p.Glu1628LysfsTer?)
c.4810_4811del (p.Glu1604LysfsTer?)
c.1576_1577del (p.Glu526LysfsTer?)
c.1438_1439del (p.Glu480LysfsTer?)
c.4000_4001del (p.Glu1334LysfsTer?)
c.4765_4766del (p.Glu1589LysfsTer?)
c.4954_4955del (p.Glu1652LysfsTer?)
c.4747_4748del (p.Glu1583LysfsTer?)
c.1450_1451del (p.Glu484LysfsTer?)
c.1495_1496del (p.Glu499LysfsTer?)
c.4951_4952del (p.Glu1651LysfsTer?)
c.1275_1276del
c.1462_1463del (p.Glu488LysfsTer?)
c.*4671_*4672del (n.*4671_*4672del)
n.41_42del
c.1201_1202del (p.Glu401LysfsTer?)
c.5-7075_5-7074del (n.5-7075_5-7074del)
c.361_362del (p.Glu121LysfsTer?)
c.-98-20836_-98-20835del (n.-98-20836_-98-20835del)
n.5024_5025del
n.5065_5066del
 ClinVar dbSNP

Number of alleles fetched