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
 ClinVar
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.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

Number of alleles fetched