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.43071066_43071081delinsAGCAGCTGGACTCTGGCA2260772881BRCA1c.4830_4845delinsCCAGAGTCCAGCTGCT (p.Ala1610=)
c.4833_4848delinsCCAGAGTCCAGCTGCT (p.Ala1611=)
c.4707_4722delinsCCAGAGTCCAGCTGCT (p.Ala1569=)
c.4827_4842delinsCCAGAGTCCAGCTGCT (p.Ala1609=)
c.4755_4770delinsCCAGAGTCCAGCTGCT (p.Ala1585=)
c.1521_1536delinsCCAGAGTCCAGCTGCT (p.Ala507=)
c.1383_1398delinsCCAGAGTCCAGCTGCT (p.Ala461=)
c.3945_3960delinsCCAGAGTCCAGCTGCT (p.Ala1315=)
c.4710_4725delinsCCAGAGTCCAGCTGCT (p.Ala1570=)
c.4899_4914delinsCCAGAGTCCAGCTGCT (p.Ala1633=)
c.4692_4707delinsCCAGAGTCCAGCTGCT (p.Ala1564=)
c.1395_1410delinsCCAGAGTCCAGCTGCT (p.Ala465=)
c.1440_1455delinsCCAGAGTCCAGCTGCT (p.Ala480=)
c.4896_4911delinsCCAGAGTCCAGCTGCT (p.Ala1632=)
c.1220_1235delinsCCAGAGTCCAGCTGCT
c.1407_1422delinsCCAGAGTCCAGCTGCT (p.Ala469=)
c.*4616_*4631delinsCCAGAGTCCAGCTGCT (n.*4616_*4631delinsCCAGAGTCCAGCTGCT)
c.1146_1161delinsCCAGAGTCCAGCTGCT (p.Ala382=)
c.5-7130_5-7115delinsCCAGAGTCCAGCTGCT (n.5-7130_5-7115delinsCCAGAGTCCAGCTGCT)
c.306_321delinsCCAGAGTCCAGCTGCT (p.Ala102=)
c.-98-20891_-98-20876delinsCCAGAGTCCAGCTGCT (n.-98-20891_-98-20876delinsCCAGAGTCCAGCTGCT)
n.4969_4984delinsCCAGAGTCCAGCTGCT
n.5010_5025delinsCCAGAGTCCAGCTGCT
17g.43071071_43071085delCA658825004BRCA1c.4830_4844del (p.Gln1611_Ala1615del)
c.4833_4847del (p.Gln1612_Ala1616del)
c.4707_4721del (p.Gln1570_Ala1574del)
c.4827_4841del (p.Gln1610_Ala1614del)
c.4755_4769del (p.Gln1586_Ala1590del)
c.1521_1535del (p.Gln508_Ala512del)
c.1383_1397del (p.Gln462_Ala466del)
c.3945_3959del (p.Gln1316_Ala1320del)
c.4710_4724del (p.Gln1571_Ala1575del)
c.4899_4913del (p.Gln1634_Ala1638del)
c.4692_4706del (p.Gln1565_Ala1569del)
c.1395_1409del (p.Gln466_Ala470del)
c.1440_1454del (p.Gln481_Ala485del)
c.4896_4910del (p.Gln1633_Ala1637del)
c.1220_1234del
c.1407_1421del (p.Gln470_Ala474del)
c.*4616_*4630del (n.*4616_*4630del)
c.1146_1160del (p.Gln383_Ala387del)
c.5-7130_5-7116del (n.5-7130_5-7116del)
c.306_320del (p.Gln103_Ala107del)
c.-98-20891_-98-20877del (n.-98-20891_-98-20877del)
n.4969_4983del
n.5010_5024del
 ClinVar dbSNP
17g.43071082delCA10589643BRCA1c.4831del (p.Gln1611ArgfsTer21)
c.4834del (p.Gln1612ArgfsTer21)
c.4708del (p.Gln1570ArgfsTer21)
c.4828del (p.Gln1610ArgfsTer21)
c.4756del (p.Gln1586ArgfsTer21)
c.1522del (p.Gln508ArgfsTer21)
c.1384del (p.Gln462ArgfsTer21)
c.3946del (p.Gln1316ArgfsTer21)
c.4711del (p.Gln1571ArgfsTer21)
c.4900del (p.Gln1634ArgfsTer21)
c.4693del (p.Gln1565ArgfsTer21)
c.1396del (p.Gln466ArgfsTer21)
c.1441del (p.Gln481ArgfsTer21)
c.4897del (p.Gln1633ArgfsTer21)
c.1221del
c.1408del (p.Gln470ArgfsTer21)
c.*4617del (n.*4617del)
c.1147del (p.Gln383ArgfsTer21)
c.5-7129del (n.5-7129del)
c.307del (p.Gln103ArgfsTer21)
c.-98-20890del (n.-98-20890del)
n.4970del
n.5011del
 ClinVar dbSNP
17g.43071081G>ACA003040BRCA1c.4830C>T (p.Ala1610=)
c.4833C>T (p.Ala1611=)
c.4707C>T (p.Ala1569=)
c.4827C>T (p.Ala1609=)
c.4755C>T (p.Ala1585=)
c.1521C>T (p.Ala507=)
c.1383C>T (p.Ala461=)
c.3945C>T (p.Ala1315=)
c.4710C>T (p.Ala1570=)
c.4899C>T (p.Ala1633=)
c.4692C>T (p.Ala1564=)
c.1395C>T (p.Ala465=)
c.1440C>T (p.Ala480=)
c.4896C>T (p.Ala1632=)
c.1220C>T
c.1407C>T (p.Ala469=)
c.*4616C>T (n.*4616C>T)
c.1146C>T (p.Ala382=)
c.5-7130C>T (n.5-7130C>T)
c.306C>T (p.Ala102=)
c.-98-20891C>T (n.-98-20891C>T)
n.4969C>T
n.5010C>T
 ClinVar dbSNP
17g.43071081G>CCA500231809BRCA1c.4830C>G (p.Ala1610=)
c.4833C>G (p.Ala1611=)
c.4707C>G (p.Ala1569=)
c.4827C>G (p.Ala1609=)
c.4755C>G (p.Ala1585=)
c.1521C>G (p.Ala507=)
c.1383C>G (p.Ala461=)
c.3945C>G (p.Ala1315=)
c.4710C>G (p.Ala1570=)
c.4899C>G (p.Ala1633=)
c.4692C>G (p.Ala1564=)
c.1395C>G (p.Ala465=)
c.1440C>G (p.Ala480=)
c.4896C>G (p.Ala1632=)
c.1220C>G
c.1407C>G (p.Ala469=)
c.*4616C>G (n.*4616C>G)
c.1146C>G (p.Ala382=)
c.5-7130C>G (n.5-7130C>G)
c.306C>G (p.Ala102=)
c.-98-20891C>G (n.-98-20891C>G)
n.4969C>G
n.5010C>G
 dbSNP
17g.43071081G=CA2260772900BRCA1c.4830C= (p.Ala1610=)
c.4833C= (p.Ala1611=)
c.4707C= (p.Ala1569=)
c.4827C= (p.Ala1609=)
c.4755C= (p.Ala1585=)
c.1521C= (p.Ala507=)
c.1383C= (p.Ala461=)
c.3945C= (p.Ala1315=)
c.4710C= (p.Ala1570=)
c.4899C= (p.Ala1633=)
c.4692C= (p.Ala1564=)
c.1395C= (p.Ala465=)
c.1440C= (p.Ala480=)
c.4896C= (p.Ala1632=)
c.1220C=
c.1407C= (p.Ala469=)
c.*4616C= (n.*4616C=)
c.1146C= (p.Ala382=)
c.5-7130C= (n.5-7130C=)
c.306C= (p.Ala102=)
c.-98-20891C= (n.-98-20891C=)
n.4969C=
n.5010C=
17g.43071081G>TCA500231810BRCA1c.4830C>A (p.Ala1610=)
c.4833C>A (p.Ala1611=)
c.4707C>A (p.Ala1569=)
c.4827C>A (p.Ala1609=)
c.4755C>A (p.Ala1585=)
c.1521C>A (p.Ala507=)
c.1383C>A (p.Ala461=)
c.3945C>A (p.Ala1315=)
c.4710C>A (p.Ala1570=)
c.4899C>A (p.Ala1633=)
c.4692C>A (p.Ala1564=)
c.1395C>A (p.Ala465=)
c.1440C>A (p.Ala480=)
c.4896C>A (p.Ala1632=)
c.1220C>A
c.1407C>A (p.Ala469=)
c.*4616C>A (n.*4616C>A)
c.1146C>A (p.Ala382=)
c.5-7130C>A (n.5-7130C>A)
c.306C>A (p.Ala102=)
c.-98-20891C>A (n.-98-20891C>A)
n.4969C>A
n.5010C>A
 dbSNP
17g.43071082G>ACA10591855BRCA1c.4829C>T (p.Ala1610Val)
c.4832C>T (p.Ala1611Val)
c.4706C>T (p.Ala1569Val)
c.4826C>T (p.Ala1609Val)
c.4754C>T (p.Ala1585Val)
c.1520C>T (p.Ala507Val)
c.1382C>T (p.Ala461Val)
c.3944C>T (p.Ala1315Val)
c.4709C>T (p.Ala1570Val)
c.4898C>T (p.Ala1633Val)
c.4691C>T (p.Ala1564Val)
c.1394C>T (p.Ala465Val)
c.1439C>T (p.Ala480Val)
c.4895C>T (p.Ala1632Val)
c.1219C>T
c.1406C>T (p.Ala469Val)
c.*4615C>T (n.*4615C>T)
c.1145C>T (p.Ala382Val)
c.5-7131C>T (n.5-7131C>T)
c.305C>T (p.Ala102Val)
c.-98-20892C>T (n.-98-20892C>T)
n.4968C>T
n.5009C>T
 ClinVar dbSNP
17g.43071082G>CCA10591856BRCA1c.4829C>G (p.Ala1610Gly)
c.4832C>G (p.Ala1611Gly)
c.4706C>G (p.Ala1569Gly)
c.4826C>G (p.Ala1609Gly)
c.4754C>G (p.Ala1585Gly)
c.1520C>G (p.Ala507Gly)
c.1382C>G (p.Ala461Gly)
c.3944C>G (p.Ala1315Gly)
c.4709C>G (p.Ala1570Gly)
c.4898C>G (p.Ala1633Gly)
c.4691C>G (p.Ala1564Gly)
c.1394C>G (p.Ala465Gly)
c.1439C>G (p.Ala480Gly)
c.4895C>G (p.Ala1632Gly)
c.1219C>G
c.1406C>G (p.Ala469Gly)
c.*4615C>G (n.*4615C>G)
c.1145C>G (p.Ala382Gly)
c.5-7131C>G (n.5-7131C>G)
c.305C>G (p.Ala102Gly)
c.-98-20892C>G (n.-98-20892C>G)
n.4968C>G
n.5009C>G
 dbSNP
17g.43071082G>TCA10591857BRCA1c.4829C>A (p.Ala1610Asp)
c.4832C>A (p.Ala1611Asp)
c.4706C>A (p.Ala1569Asp)
c.4826C>A (p.Ala1609Asp)
c.4754C>A (p.Ala1585Asp)
c.1520C>A (p.Ala507Asp)
c.1382C>A (p.Ala461Asp)
c.3944C>A (p.Ala1315Asp)
c.4709C>A (p.Ala1570Asp)
c.4898C>A (p.Ala1633Asp)
c.4691C>A (p.Ala1564Asp)
c.1394C>A (p.Ala465Asp)
c.1439C>A (p.Ala480Asp)
c.4895C>A (p.Ala1632Asp)
c.1219C>A
c.1406C>A (p.Ala469Asp)
c.*4615C>A (n.*4615C>A)
c.1145C>A (p.Ala382Asp)
c.5-7131C>A (n.5-7131C>A)
c.305C>A (p.Ala102Asp)
c.-98-20892C>A (n.-98-20892C>A)
n.4968C>A
n.5009C>A
 dbSNP
17g.43071083C>ACA10591858BRCA1c.4828G>T (p.Ala1610Ser)
c.4831G>T (p.Ala1611Ser)
c.4705G>T (p.Ala1569Ser)
c.4825G>T (p.Ala1609Ser)
c.4753G>T (p.Ala1585Ser)
c.1519G>T (p.Ala507Ser)
c.1381G>T (p.Ala461Ser)
c.3943G>T (p.Ala1315Ser)
c.4708G>T (p.Ala1570Ser)
c.4897G>T (p.Ala1633Ser)
c.4690G>T (p.Ala1564Ser)
c.1393G>T (p.Ala465Ser)
c.1438G>T (p.Ala480Ser)
c.4894G>T (p.Ala1632Ser)
c.1218G>T
c.1405G>T (p.Ala469Ser)
c.*4614G>T (n.*4614G>T)
c.1144G>T (p.Ala382Ser)
c.5-7132G>T (n.5-7132G>T)
c.304G>T (p.Ala102Ser)
c.-98-20893G>T (n.-98-20893G>T)
n.4967G>T
n.5008G>T
 ClinVar dbSNP
17g.43071083C=CA2260772901BRCA1c.4828G= (p.Ala1610=)
c.4831G= (p.Ala1611=)
c.4705G= (p.Ala1569=)
c.4825G= (p.Ala1609=)
c.4753G= (p.Ala1585=)
c.1519G= (p.Ala507=)
c.1381G= (p.Ala461=)
c.3943G= (p.Ala1315=)
c.4708G= (p.Ala1570=)
c.4897G= (p.Ala1633=)
c.4690G= (p.Ala1564=)
c.1393G= (p.Ala465=)
c.1438G= (p.Ala480=)
c.4894G= (p.Ala1632=)
c.1218G=
c.1405G= (p.Ala469=)
c.*4614G= (n.*4614G=)
c.1144G= (p.Ala382=)
c.5-7132G= (n.5-7132G=)
c.304G= (p.Ala102=)
c.-98-20893G= (n.-98-20893G=)
n.4967G=
n.5008G=
17g.43071083C>GCA10591859BRCA1c.4828G>C (p.Ala1610Pro)
c.4831G>C (p.Ala1611Pro)
c.4705G>C (p.Ala1569Pro)
c.4825G>C (p.Ala1609Pro)
c.4753G>C (p.Ala1585Pro)
c.1519G>C (p.Ala507Pro)
c.1381G>C (p.Ala461Pro)
c.3943G>C (p.Ala1315Pro)
c.4708G>C (p.Ala1570Pro)
c.4897G>C (p.Ala1633Pro)
c.4690G>C (p.Ala1564Pro)
c.1393G>C (p.Ala465Pro)
c.1438G>C (p.Ala480Pro)
c.4894G>C (p.Ala1632Pro)
c.1218G>C
c.1405G>C (p.Ala469Pro)
c.*4614G>C (n.*4614G>C)
c.1144G>C (p.Ala382Pro)
c.5-7132G>C (n.5-7132G>C)
c.304G>C (p.Ala102Pro)
c.-98-20893G>C (n.-98-20893G>C)
n.4967G>C
n.5008G>C
 dbSNP
17g.43071083C>TCA10591860BRCA1c.4828G>A (p.Ala1610Thr)
c.4831G>A (p.Ala1611Thr)
c.4705G>A (p.Ala1569Thr)
c.4825G>A (p.Ala1609Thr)
c.4753G>A (p.Ala1585Thr)
c.1519G>A (p.Ala507Thr)
c.1381G>A (p.Ala461Thr)
c.3943G>A (p.Ala1315Thr)
c.4708G>A (p.Ala1570Thr)
c.4897G>A (p.Ala1633Thr)
c.4690G>A (p.Ala1564Thr)
c.1393G>A (p.Ala465Thr)
c.1438G>A (p.Ala480Thr)
c.4894G>A (p.Ala1632Thr)
c.1218G>A
c.1405G>A (p.Ala469Thr)
c.*4614G>A (n.*4614G>A)
c.1144G>A (p.Ala382Thr)
c.5-7132G>A (n.5-7132G>A)
c.304G>A (p.Ala102Thr)
c.-98-20893G>A (n.-98-20893G>A)
n.4967G>A
n.5008G>A
 dbSNP gnomAD v3 gnomAD v4
17g.43071084A=CA2260772902BRCA1c.4827T= (p.Ser1609=)
c.4830T= (p.Ser1610=)
c.4704T= (p.Ser1568=)
c.4824T= (p.Ser1608=)
c.4752T= (p.Ser1584=)
c.1518T= (p.Ser506=)
c.1380T= (p.Ser460=)
c.3942T= (p.Ser1314=)
c.4707T= (p.Ser1569=)
c.4896T= (p.Ser1632=)
c.4689T= (p.Ser1563=)
c.1392T= (p.Ser464=)
c.1437T= (p.Ser479=)
c.4893T= (p.Ser1631=)
c.1217T=
c.1404T= (p.Ser468=)
c.*4613T= (n.*4613T=)
c.1143T= (p.Ser381=)
c.5-7133T= (n.5-7133T=)
c.303T= (p.Ser101=)
c.-98-20894T= (n.-98-20894T=)
n.4966T=
n.5007T=
17g.43071084A>CCA500231813BRCA1c.4827T>G (p.Ser1609=)
c.4830T>G (p.Ser1610=)
c.4704T>G (p.Ser1568=)
c.4824T>G (p.Ser1608=)
c.4752T>G (p.Ser1584=)
c.1518T>G (p.Ser506=)
c.1380T>G (p.Ser460=)
c.3942T>G (p.Ser1314=)
c.4707T>G (p.Ser1569=)
c.4896T>G (p.Ser1632=)
c.4689T>G (p.Ser1563=)
c.1392T>G (p.Ser464=)
c.1437T>G (p.Ser479=)
c.4893T>G (p.Ser1631=)
c.1217T>G
c.1404T>G (p.Ser468=)
c.*4613T>G (n.*4613T>G)
c.1143T>G (p.Ser381=)
c.5-7133T>G (n.5-7133T>G)
c.303T>G (p.Ser101=)
c.-98-20894T>G (n.-98-20894T>G)
n.4966T>G
n.5007T>G
 ClinVar dbSNP
17g.43071084A>GCA500231811BRCA1c.4827T>C (p.Ser1609=)
c.4830T>C (p.Ser1610=)
c.4704T>C (p.Ser1568=)
c.4824T>C (p.Ser1608=)
c.4752T>C (p.Ser1584=)
c.1518T>C (p.Ser506=)
c.1380T>C (p.Ser460=)
c.3942T>C (p.Ser1314=)
c.4707T>C (p.Ser1569=)
c.4896T>C (p.Ser1632=)
c.4689T>C (p.Ser1563=)
c.1392T>C (p.Ser464=)
c.1437T>C (p.Ser479=)
c.4893T>C (p.Ser1631=)
c.1217T>C
c.1404T>C (p.Ser468=)
c.*4613T>C (n.*4613T>C)
c.1143T>C (p.Ser381=)
c.5-7133T>C (n.5-7133T>C)
c.303T>C (p.Ser101=)
c.-98-20894T>C (n.-98-20894T>C)
n.4966T>C
n.5007T>C
 dbSNP gnomAD v4
17g.43071084A>TCA500231812BRCA1c.4827T>A (p.Ser1609=)
c.4830T>A (p.Ser1610=)
c.4704T>A (p.Ser1568=)
c.4824T>A (p.Ser1608=)
c.4752T>A (p.Ser1584=)
c.1518T>A (p.Ser506=)
c.1380T>A (p.Ser460=)
c.3942T>A (p.Ser1314=)
c.4707T>A (p.Ser1569=)
c.4896T>A (p.Ser1632=)
c.4689T>A (p.Ser1563=)
c.1392T>A (p.Ser464=)
c.1437T>A (p.Ser479=)
c.4893T>A (p.Ser1631=)
c.1217T>A
c.1404T>A (p.Ser468=)
c.*4613T>A (n.*4613T>A)
c.1143T>A (p.Ser381=)
c.5-7133T>A (n.5-7133T>A)
c.303T>A (p.Ser101=)
c.-98-20894T>A (n.-98-20894T>A)
n.4966T>A
n.5007T>A
 dbSNP
17g.43071084_43071085delinsAGCA2260772903BRCA1c.4826_4827delinsCT (p.Ser1609=)
c.4829_4830delinsCT (p.Ser1610=)
c.4703_4704delinsCT (p.Ser1568=)
c.4823_4824delinsCT (p.Ser1608=)
c.4751_4752delinsCT (p.Ser1584=)
c.1517_1518delinsCT (p.Ser506=)
c.1379_1380delinsCT (p.Ser460=)
c.3941_3942delinsCT (p.Ser1314=)
c.4706_4707delinsCT (p.Ser1569=)
c.4895_4896delinsCT (p.Ser1632=)
c.4688_4689delinsCT (p.Ser1563=)
c.1391_1392delinsCT (p.Ser464=)
c.1436_1437delinsCT (p.Ser479=)
c.4892_4893delinsCT (p.Ser1631=)
c.1216_1217delinsCT
c.1403_1404delinsCT (p.Ser468=)
c.*4612_*4613delinsCT (n.*4612_*4613delinsCT)
c.1142_1143delinsCT (p.Ser381=)
c.5-7134_5-7133delinsCT (n.5-7134_5-7133delinsCT)
c.302_303delinsCT (p.Ser101=)
c.-98-20895_-98-20894delinsCT (n.-98-20895_-98-20894delinsCT)
n.4965_4966delinsCT
n.5006_5007delinsCT
17g.43071085_43071086delCA2739265598BRCA1c.4826_4827del (p.Ser1609CysfsTer11)
c.4829_4830del (p.Ser1610CysfsTer11)
c.4703_4704del (p.Ser1568CysfsTer11)
c.4823_4824del (p.Ser1608CysfsTer11)
c.4751_4752del (p.Ser1584CysfsTer11)
c.1517_1518del (p.Ser506CysfsTer11)
c.1379_1380del (p.Ser460CysfsTer11)
c.3941_3942del (p.Ser1314CysfsTer11)
c.4706_4707del (p.Ser1569CysfsTer11)
c.4895_4896del (p.Ser1632CysfsTer11)
c.4688_4689del (p.Ser1563CysfsTer11)
c.1391_1392del (p.Ser464CysfsTer11)
c.1436_1437del (p.Ser479CysfsTer11)
c.4892_4893del (p.Ser1631CysfsTer11)
c.1216_1217del
c.1403_1404del (p.Ser468CysfsTer11)
c.*4612_*4613del (n.*4612_*4613del)
c.1142_1143del (p.Ser381CysfsTer11)
c.5-7134_5-7133del (n.5-7134_5-7133del)
c.302_303del (p.Ser101CysfsTer11)
c.-98-20895_-98-20894del (n.-98-20895_-98-20894del)
n.4965_4966del
n.5006_5007del
 ClinVar
17g.43071085delCA1139665579BRCA1c.4826del (p.Ser1609LeufsTer23)
c.4829del (p.Ser1610LeufsTer23)
c.4703del (p.Ser1568LeufsTer23)
c.4823del (p.Ser1608LeufsTer23)
c.4751del (p.Ser1584LeufsTer23)
c.1517del (p.Ser506LeufsTer23)
c.1379del (p.Ser460LeufsTer23)
c.3941del (p.Ser1314LeufsTer23)
c.4706del (p.Ser1569LeufsTer23)
c.4895del (p.Ser1632LeufsTer23)
c.4688del (p.Ser1563LeufsTer23)
c.1391del (p.Ser464LeufsTer23)
c.1436del (p.Ser479LeufsTer23)
c.4892del (p.Ser1631LeufsTer23)
c.1216del
c.1403del (p.Ser468LeufsTer23)
c.*4612del (n.*4612del)
c.1142del (p.Ser381LeufsTer23)
c.5-7134del (n.5-7134del)
c.302del (p.Ser101LeufsTer23)
c.-98-20895del (n.-98-20895del)
n.4965del
n.5006del
 ClinVar dbSNP
17g.43071085G>ACA10591861BRCA1c.4826C>T (p.Ser1609Phe)
c.4829C>T (p.Ser1610Phe)
c.4703C>T (p.Ser1568Phe)
c.4823C>T (p.Ser1608Phe)
c.4751C>T (p.Ser1584Phe)
c.1517C>T (p.Ser506Phe)
c.1379C>T (p.Ser460Phe)
c.3941C>T (p.Ser1314Phe)
c.4706C>T (p.Ser1569Phe)
c.4895C>T (p.Ser1632Phe)
c.4688C>T (p.Ser1563Phe)
c.1391C>T (p.Ser464Phe)
c.1436C>T (p.Ser479Phe)
c.4892C>T (p.Ser1631Phe)
c.1216C>T
c.1403C>T (p.Ser468Phe)
c.*4612C>T (n.*4612C>T)
c.1142C>T (p.Ser381Phe)
c.5-7134C>T (n.5-7134C>T)
c.302C>T (p.Ser101Phe)
c.-98-20895C>T (n.-98-20895C>T)
n.4965C>T
n.5006C>T
 ClinVar dbSNP
17g.43071085G>CCA10591862BRCA1c.4826C>G (p.Ser1609Cys)
c.4829C>G (p.Ser1610Cys)
c.4703C>G (p.Ser1568Cys)
c.4823C>G (p.Ser1608Cys)
c.4751C>G (p.Ser1584Cys)
c.1517C>G (p.Ser506Cys)
c.1379C>G (p.Ser460Cys)
c.3941C>G (p.Ser1314Cys)
c.4706C>G (p.Ser1569Cys)
c.4895C>G (p.Ser1632Cys)
c.4688C>G (p.Ser1563Cys)
c.1391C>G (p.Ser464Cys)
c.1436C>G (p.Ser479Cys)
c.4892C>G (p.Ser1631Cys)
c.1216C>G
c.1403C>G (p.Ser468Cys)
c.*4612C>G (n.*4612C>G)
c.1142C>G (p.Ser381Cys)
c.5-7134C>G (n.5-7134C>G)
c.302C>G (p.Ser101Cys)
c.-98-20895C>G (n.-98-20895C>G)
n.4965C>G
n.5006C>G
 dbSNP
17g.43071085G=CA2260772904BRCA1c.4826C= (p.Ser1609=)
c.4829C= (p.Ser1610=)
c.4703C= (p.Ser1568=)
c.4823C= (p.Ser1608=)
c.4751C= (p.Ser1584=)
c.1517C= (p.Ser506=)
c.1379C= (p.Ser460=)
c.3941C= (p.Ser1314=)
c.4706C= (p.Ser1569=)
c.4895C= (p.Ser1632=)
c.4688C= (p.Ser1563=)
c.1391C= (p.Ser464=)
c.1436C= (p.Ser479=)
c.4892C= (p.Ser1631=)
c.1216C=
c.1403C= (p.Ser468=)
c.*4612C= (n.*4612C=)
c.1142C= (p.Ser381=)
c.5-7134C= (n.5-7134C=)
c.302C= (p.Ser101=)
c.-98-20895C= (n.-98-20895C=)
n.4965C=
n.5006C=
17g.43071085G>TCA10591863BRCA1c.4826C>A (p.Ser1609Tyr)
c.4829C>A (p.Ser1610Tyr)
c.4703C>A (p.Ser1568Tyr)
c.4823C>A (p.Ser1608Tyr)
c.4751C>A (p.Ser1584Tyr)
c.1517C>A (p.Ser506Tyr)
c.1379C>A (p.Ser460Tyr)
c.3941C>A (p.Ser1314Tyr)
c.4706C>A (p.Ser1569Tyr)
c.4895C>A (p.Ser1632Tyr)
c.4688C>A (p.Ser1563Tyr)
c.1391C>A (p.Ser464Tyr)
c.1436C>A (p.Ser479Tyr)
c.4892C>A (p.Ser1631Tyr)
c.1216C>A
c.1403C>A (p.Ser468Tyr)
c.*4612C>A (n.*4612C>A)
c.1142C>A (p.Ser381Tyr)
c.5-7134C>A (n.5-7134C>A)
c.302C>A (p.Ser101Tyr)
c.-98-20895C>A (n.-98-20895C>A)
n.4965C>A
n.5006C>A
 dbSNP
17g.43071086A>CCA10591864BRCA1c.4825T>G (p.Ser1609Ala)
c.4828T>G (p.Ser1610Ala)
c.4702T>G (p.Ser1568Ala)
c.4822T>G (p.Ser1608Ala)
c.4750T>G (p.Ser1584Ala)
c.1516T>G (p.Ser506Ala)
c.1378T>G (p.Ser460Ala)
c.3940T>G (p.Ser1314Ala)
c.4705T>G (p.Ser1569Ala)
c.4894T>G (p.Ser1632Ala)
c.4687T>G (p.Ser1563Ala)
c.1390T>G (p.Ser464Ala)
c.1435T>G (p.Ser479Ala)
c.4891T>G (p.Ser1631Ala)
c.1215T>G
c.1402T>G (p.Ser468Ala)
c.*4611T>G (n.*4611T>G)
c.1141T>G (p.Ser381Ala)
c.5-7135T>G (n.5-7135T>G)
c.301T>G (p.Ser101Ala)
c.-98-20896T>G (n.-98-20896T>G)
n.4964T>G
n.5005T>G
17g.43071086A>GCA10591865BRCA1c.4825T>C (p.Ser1609Pro)
c.4828T>C (p.Ser1610Pro)
c.4702T>C (p.Ser1568Pro)
c.4822T>C (p.Ser1608Pro)
c.4750T>C (p.Ser1584Pro)
c.1516T>C (p.Ser506Pro)
c.1378T>C (p.Ser460Pro)
c.3940T>C (p.Ser1314Pro)
c.4705T>C (p.Ser1569Pro)
c.4894T>C (p.Ser1632Pro)
c.4687T>C (p.Ser1563Pro)
c.1390T>C (p.Ser464Pro)
c.1435T>C (p.Ser479Pro)
c.4891T>C (p.Ser1631Pro)
c.1215T>C
c.1402T>C (p.Ser468Pro)
c.*4611T>C (n.*4611T>C)
c.1141T>C (p.Ser381Pro)
c.5-7135T>C (n.5-7135T>C)
c.301T>C (p.Ser101Pro)
c.-98-20896T>C (n.-98-20896T>C)
n.4964T>C
n.5005T>C
 dbSNP
17g.43071086A>TCA10591866BRCA1c.4825T>A (p.Ser1609Thr)
c.4828T>A (p.Ser1610Thr)
c.4702T>A (p.Ser1568Thr)
c.4822T>A (p.Ser1608Thr)
c.4750T>A (p.Ser1584Thr)
c.1516T>A (p.Ser506Thr)
c.1378T>A (p.Ser460Thr)
c.3940T>A (p.Ser1314Thr)
c.4705T>A (p.Ser1569Thr)
c.4894T>A (p.Ser1632Thr)
c.4687T>A (p.Ser1563Thr)
c.1390T>A (p.Ser464Thr)
c.1435T>A (p.Ser479Thr)
c.4891T>A (p.Ser1631Thr)
c.1215T>A
c.1402T>A (p.Ser468Thr)
c.*4611T>A (n.*4611T>A)
c.1141T>A (p.Ser381Thr)
c.5-7135T>A (n.5-7135T>A)
c.301T>A (p.Ser101Thr)
c.-98-20896T>A (n.-98-20896T>A)
n.4964T>A
n.5005T>A
 dbSNP
17g.43071086dupCA658656620BRCA1c.4825dup (p.Ser1609PhefsTer12)
c.4828dup (p.Ser1610PhefsTer12)
c.4702dup (p.Ser1568PhefsTer12)
c.4822dup (p.Ser1608PhefsTer12)
c.4750dup (p.Ser1584PhefsTer12)
c.1516dup (p.Ser506PhefsTer12)
c.1378dup (p.Ser460PhefsTer12)
c.3940dup (p.Ser1314PhefsTer12)
c.4705dup (p.Ser1569PhefsTer12)
c.4894dup (p.Ser1632PhefsTer12)
c.4687dup (p.Ser1563PhefsTer12)
c.1390dup (p.Ser464PhefsTer12)
c.1435dup (p.Ser479PhefsTer12)
c.4891dup (p.Ser1631PhefsTer12)
c.1215dup
c.1402dup (p.Ser468PhefsTer12)
c.*4611dup (n.*4611dup)
c.1141dup (p.Ser381PhefsTer12)
c.5-7135dup (n.5-7135dup)
c.301dup (p.Ser101PhefsTer12)
c.-98-20896dup (n.-98-20896dup)
n.4964dup
n.5005dup
 ClinVar dbSNP
17g.43071087T>ACA10591867BRCA1c.4824A>T (p.Glu1608Asp)
c.4827A>T (p.Glu1609Asp)
c.4701A>T (p.Glu1567Asp)
c.4821A>T (p.Glu1607Asp)
c.4749A>T (p.Glu1583Asp)
c.1515A>T (p.Glu505Asp)
c.1377A>T (p.Glu459Asp)
c.3939A>T (p.Glu1313Asp)
c.4704A>T (p.Glu1568Asp)
c.4893A>T (p.Glu1631Asp)
c.4686A>T (p.Glu1562Asp)
c.1389A>T (p.Glu463Asp)
c.1434A>T (p.Glu478Asp)
c.4890A>T (p.Glu1630Asp)
c.1214A>T
c.1401A>T (p.Glu467Asp)
c.*4610A>T (n.*4610A>T)
c.1140A>T (p.Glu380Asp)
c.5-7136A>T (n.5-7136A>T)
c.300A>T (p.Glu100Asp)
c.-98-20897A>T (n.-98-20897A>T)
n.4963A>T
n.5004A>T
 dbSNP
17g.43071087T>CCA500231814BRCA1c.4824A>G (p.Glu1608=)
c.4827A>G (p.Glu1609=)
c.4701A>G (p.Glu1567=)
c.4821A>G (p.Glu1607=)
c.4749A>G (p.Glu1583=)
c.1515A>G (p.Glu505=)
c.1377A>G (p.Glu459=)
c.3939A>G (p.Glu1313=)
c.4704A>G (p.Glu1568=)
c.4893A>G (p.Glu1631=)
c.4686A>G (p.Glu1562=)
c.1389A>G (p.Glu463=)
c.1434A>G (p.Glu478=)
c.4890A>G (p.Glu1630=)
c.1214A>G
c.1401A>G (p.Glu467=)
c.*4610A>G (n.*4610A>G)
c.1140A>G (p.Glu380=)
c.5-7136A>G (n.5-7136A>G)
c.300A>G (p.Glu100=)
c.-98-20897A>G (n.-98-20897A>G)
n.4963A>G
n.5004A>G
 dbSNP
17g.43071087T>GCA10591868BRCA1c.4824A>C (p.Glu1608Asp)
c.4827A>C (p.Glu1609Asp)
c.4701A>C (p.Glu1567Asp)
c.4821A>C (p.Glu1607Asp)
c.4749A>C (p.Glu1583Asp)
c.1515A>C (p.Glu505Asp)
c.1377A>C (p.Glu459Asp)
c.3939A>C (p.Glu1313Asp)
c.4704A>C (p.Glu1568Asp)
c.4893A>C (p.Glu1631Asp)
c.4686A>C (p.Glu1562Asp)
c.1389A>C (p.Glu463Asp)
c.1434A>C (p.Glu478Asp)
c.4890A>C (p.Glu1630Asp)
c.1214A>C
c.1401A>C (p.Glu467Asp)
c.*4610A>C (n.*4610A>C)
c.1140A>C (p.Glu380Asp)
c.5-7136A>C (n.5-7136A>C)
c.300A>C (p.Glu100Asp)
c.-98-20897A>C (n.-98-20897A>C)
n.4963A>C
n.5004A>C
17g.43071088T>ACA10591869BRCA1c.4823A>T (p.Glu1608Val)
c.4826A>T (p.Glu1609Val)
c.4700A>T (p.Glu1567Val)
c.4820A>T (p.Glu1607Val)
c.4748A>T (p.Glu1583Val)
c.1514A>T (p.Glu505Val)
c.1376A>T (p.Glu459Val)
c.3938A>T (p.Glu1313Val)
c.4703A>T (p.Glu1568Val)
c.4892A>T (p.Glu1631Val)
c.4685A>T (p.Glu1562Val)
c.1388A>T (p.Glu463Val)
c.1433A>T (p.Glu478Val)
c.4889A>T (p.Glu1630Val)
c.1213A>T
c.1400A>T (p.Glu467Val)
c.*4609A>T (n.*4609A>T)
c.1139A>T (p.Glu380Val)
c.5-7137A>T (n.5-7137A>T)
c.299A>T (p.Glu100Val)
c.-98-20898A>T (n.-98-20898A>T)
n.4962A>T
n.5003A>T
 dbSNP
17g.43071088T>CCA003039BRCA1c.4823A>G (p.Glu1608Gly)
c.4826A>G (p.Glu1609Gly)
c.4700A>G (p.Glu1567Gly)
c.4820A>G (p.Glu1607Gly)
c.4748A>G (p.Glu1583Gly)
c.1514A>G (p.Glu505Gly)
c.1376A>G (p.Glu459Gly)
c.3938A>G (p.Glu1313Gly)
c.4703A>G (p.Glu1568Gly)
c.4892A>G (p.Glu1631Gly)
c.4685A>G (p.Glu1562Gly)
c.1388A>G (p.Glu463Gly)
c.1433A>G (p.Glu478Gly)
c.4889A>G (p.Glu1630Gly)
c.1213A>G
c.1400A>G (p.Glu467Gly)
c.*4609A>G (n.*4609A>G)
c.1139A>G (p.Glu380Gly)
c.5-7137A>G (n.5-7137A>G)
c.299A>G (p.Glu100Gly)
c.-98-20898A>G (n.-98-20898A>G)
n.4962A>G
n.5003A>G
 ClinVar dbSNP
17g.43071088T>GCA10591870BRCA1c.4823A>C (p.Glu1608Ala)
c.4826A>C (p.Glu1609Ala)
c.4700A>C (p.Glu1567Ala)
c.4820A>C (p.Glu1607Ala)
c.4748A>C (p.Glu1583Ala)
c.1514A>C (p.Glu505Ala)
c.1376A>C (p.Glu459Ala)
c.3938A>C (p.Glu1313Ala)
c.4703A>C (p.Glu1568Ala)
c.4892A>C (p.Glu1631Ala)
c.4685A>C (p.Glu1562Ala)
c.1388A>C (p.Glu463Ala)
c.1433A>C (p.Glu478Ala)
c.4889A>C (p.Glu1630Ala)
c.1213A>C
c.1400A>C (p.Glu467Ala)
c.*4609A>C (n.*4609A>C)
c.1139A>C (p.Glu380Ala)
c.5-7137A>C (n.5-7137A>C)
c.299A>C (p.Glu100Ala)
c.-98-20898A>C (n.-98-20898A>C)
n.4962A>C
n.5003A>C
17g.43071088T=CA2260772905BRCA1c.4823A= (p.Glu1608=)
c.4826A= (p.Glu1609=)
c.4700A= (p.Glu1567=)
c.4820A= (p.Glu1607=)
c.4748A= (p.Glu1583=)
c.1514A= (p.Glu505=)
c.1376A= (p.Glu459=)
c.3938A= (p.Glu1313=)
c.4703A= (p.Glu1568=)
c.4892A= (p.Glu1631=)
c.4685A= (p.Glu1562=)
c.1388A= (p.Glu463=)
c.1433A= (p.Glu478=)
c.4889A= (p.Glu1630=)
c.1213A=
c.1400A= (p.Glu467=)
c.*4609A= (n.*4609A=)
c.1139A= (p.Glu380=)
c.5-7137A= (n.5-7137A=)
c.299A= (p.Glu100=)
c.-98-20898A= (n.-98-20898A=)
n.4962A=
n.5003A=
17g.43071089C>ACA10591871BRCA1c.4822G>T (p.Glu1608Ter)
c.4825G>T (p.Glu1609Ter)
c.4699G>T (p.Glu1567Ter)
c.4819G>T (p.Glu1607Ter)
c.4747G>T (p.Glu1583Ter)
c.1513G>T (p.Glu505Ter)
c.1375G>T (p.Glu459Ter)
c.3937G>T (p.Glu1313Ter)
c.4702G>T (p.Glu1568Ter)
c.4891G>T (p.Glu1631Ter)
c.4684G>T (p.Glu1562Ter)
c.1387G>T (p.Glu463Ter)
c.1432G>T (p.Glu478Ter)
c.4888G>T (p.Glu1630Ter)
c.1212G>T
c.1399G>T (p.Glu467Ter)
c.*4608G>T (n.*4608G>T)
c.1138G>T (p.Glu380Ter)
c.5-7138G>T (n.5-7138G>T)
c.298G>T (p.Glu100Ter)
c.-98-20899G>T (n.-98-20899G>T)
n.4961G>T
n.5002G>T
 ClinVar dbSNP COSMIC
17g.43071089C>GCA10591872BRCA1c.4822G>C (p.Glu1608Gln)
c.4825G>C (p.Glu1609Gln)
c.4699G>C (p.Glu1567Gln)
c.4819G>C (p.Glu1607Gln)
c.4747G>C (p.Glu1583Gln)
c.1513G>C (p.Glu505Gln)
c.1375G>C (p.Glu459Gln)
c.3937G>C (p.Glu1313Gln)
c.4702G>C (p.Glu1568Gln)
c.4891G>C (p.Glu1631Gln)
c.4684G>C (p.Glu1562Gln)
c.1387G>C (p.Glu463Gln)
c.1432G>C (p.Glu478Gln)
c.4888G>C (p.Glu1630Gln)
c.1212G>C
c.1399G>C (p.Glu467Gln)
c.*4608G>C (n.*4608G>C)
c.1138G>C (p.Glu380Gln)
c.5-7138G>C (n.5-7138G>C)
c.298G>C (p.Glu100Gln)
c.-98-20899G>C (n.-98-20899G>C)
n.4961G>C
n.5002G>C
 dbSNP
17g.43071089C>TCA10591873BRCA1c.4822G>A (p.Glu1608Lys)
c.4825G>A (p.Glu1609Lys)
c.4699G>A (p.Glu1567Lys)
c.4819G>A (p.Glu1607Lys)
c.4747G>A (p.Glu1583Lys)
c.1513G>A (p.Glu505Lys)
c.1375G>A (p.Glu459Lys)
c.3937G>A (p.Glu1313Lys)
c.4702G>A (p.Glu1568Lys)
c.4891G>A (p.Glu1631Lys)
c.4684G>A (p.Glu1562Lys)
c.1387G>A (p.Glu463Lys)
c.1432G>A (p.Glu478Lys)
c.4888G>A (p.Glu1630Lys)
c.1212G>A
c.1399G>A (p.Glu467Lys)
c.*4608G>A (n.*4608G>A)
c.1138G>A (p.Glu380Lys)
c.5-7138G>A (n.5-7138G>A)
c.298G>A (p.Glu100Lys)
c.-98-20899G>A (n.-98-20899G>A)
n.4961G>A
n.5002G>A
 dbSNP
17g.43071090T>ACA500231815BRCA1c.4821A>T (p.Ala1607=)
c.4824A>T (p.Ala1608=)
c.4698A>T (p.Ala1566=)
c.4818A>T (p.Ala1606=)
c.4746A>T (p.Ala1582=)
c.1512A>T (p.Ala504=)
c.1374A>T (p.Ala458=)
c.3936A>T (p.Ala1312=)
c.4701A>T (p.Ala1567=)
c.4890A>T (p.Ala1630=)
c.4683A>T (p.Ala1561=)
c.1386A>T (p.Ala462=)
c.1431A>T (p.Ala477=)
c.4887A>T (p.Ala1629=)
c.1211A>T
c.1398A>T (p.Ala466=)
c.*4607A>T (n.*4607A>T)
c.1137A>T (p.Ala379=)
c.5-7139A>T (n.5-7139A>T)
c.297A>T (p.Ala99=)
c.-98-20900A>T (n.-98-20900A>T)
n.4960A>T
n.5001A>T
 dbSNP
17g.43071090T>CCA500231816BRCA1c.4821A>G (p.Ala1607=)
c.4824A>G (p.Ala1608=)
c.4698A>G (p.Ala1566=)
c.4818A>G (p.Ala1606=)
c.4746A>G (p.Ala1582=)
c.1512A>G (p.Ala504=)
c.1374A>G (p.Ala458=)
c.3936A>G (p.Ala1312=)
c.4701A>G (p.Ala1567=)
c.4890A>G (p.Ala1630=)
c.4683A>G (p.Ala1561=)
c.1386A>G (p.Ala462=)
c.1431A>G (p.Ala477=)
c.4887A>G (p.Ala1629=)
c.1211A>G
c.1398A>G (p.Ala466=)
c.*4607A>G (n.*4607A>G)
c.1137A>G (p.Ala379=)
c.5-7139A>G (n.5-7139A>G)
c.297A>G (p.Ala99=)
c.-98-20900A>G (n.-98-20900A>G)
n.4960A>G
n.5001A>G
 ClinVar dbSNP gnomAD v4
17g.43071090T>GCA500231817BRCA1c.4821A>C (p.Ala1607=)
c.4824A>C (p.Ala1608=)
c.4698A>C (p.Ala1566=)
c.4818A>C (p.Ala1606=)
c.4746A>C (p.Ala1582=)
c.1512A>C (p.Ala504=)
c.1374A>C (p.Ala458=)
c.3936A>C (p.Ala1312=)
c.4701A>C (p.Ala1567=)
c.4890A>C (p.Ala1630=)
c.4683A>C (p.Ala1561=)
c.1386A>C (p.Ala462=)
c.1431A>C (p.Ala477=)
c.4887A>C (p.Ala1629=)
c.1211A>C
c.1398A>C (p.Ala466=)
c.*4607A>C (n.*4607A>C)
c.1137A>C (p.Ala379=)
c.5-7139A>C (n.5-7139A>C)
c.297A>C (p.Ala99=)
c.-98-20900A>C (n.-98-20900A>C)
n.4960A>C
n.5001A>C
17g.43071090T=CA2260772906BRCA1c.4821A= (p.Ala1607=)
c.4824A= (p.Ala1608=)
c.4698A= (p.Ala1566=)
c.4818A= (p.Ala1606=)
c.4746A= (p.Ala1582=)
c.1512A= (p.Ala504=)
c.1374A= (p.Ala458=)
c.3936A= (p.Ala1312=)
c.4701A= (p.Ala1567=)
c.4890A= (p.Ala1630=)
c.4683A= (p.Ala1561=)
c.1386A= (p.Ala462=)
c.1431A= (p.Ala477=)
c.4887A= (p.Ala1629=)
c.1211A=
c.1398A= (p.Ala466=)
c.*4607A= (n.*4607A=)
c.1137A= (p.Ala379=)
c.5-7139A= (n.5-7139A=)
c.297A= (p.Ala99=)
c.-98-20900A= (n.-98-20900A=)
n.4960A=
n.5001A=
17g.43071090_43071104delCA2638062539BRCA1c.4807_4821del (p.Gln1603_Ala1607del)
c.4810_4824del (p.Gln1604_Ala1608del)
c.4684_4698del (p.Gln1562_Ala1566del)
c.4804_4818del (p.Gln1602_Ala1606del)
c.4732_4746del (p.Gln1578_Ala1582del)
c.1498_1512del (p.Gln500_Ala504del)
c.1360_1374del (p.Gln454_Ala458del)
c.3922_3936del (p.Gln1308_Ala1312del)
c.4687_4701del (p.Gln1563_Ala1567del)
c.4876_4890del (p.Gln1626_Ala1630del)
c.4669_4683del (p.Gln1557_Ala1561del)
c.1372_1386del (p.Gln458_Ala462del)
c.1417_1431del (p.Gln473_Ala477del)
c.4873_4887del (p.Gln1625_Ala1629del)
c.1197_1211del
c.1384_1398del (p.Gln462_Ala466del)
c.*4593_*4607del (n.*4593_*4607del)
c.1123_1137del (p.Gln375_Ala379del)
c.5-7153_5-7139del (n.5-7153_5-7139del)
c.283_297del (p.Gln95_Ala99del)
c.-98-20914_-98-20900del (n.-98-20914_-98-20900del)
n.4946_4960del
n.4987_5001del
 gnomAD v4
17g.43071090_43071091insCCA658825006BRCA1c.4820_4821insG (p.Glu1608ArgfsTer13)
c.4823_4824insG (p.Glu1609ArgfsTer13)
c.4697_4698insG (p.Glu1567ArgfsTer13)
c.4817_4818insG (p.Glu1607ArgfsTer13)
c.4745_4746insG (p.Glu1583ArgfsTer13)
c.1511_1512insG (p.Glu505ArgfsTer13)
c.1373_1374insG (p.Glu459ArgfsTer13)
c.3935_3936insG (p.Glu1313ArgfsTer13)
c.4700_4701insG (p.Glu1568ArgfsTer13)
c.4889_4890insG (p.Glu1631ArgfsTer13)
c.4682_4683insG (p.Glu1562ArgfsTer13)
c.1385_1386insG (p.Glu463ArgfsTer13)
c.1430_1431insG (p.Glu478ArgfsTer13)
c.4886_4887insG (p.Glu1630ArgfsTer13)
c.1210_1211insG
c.1397_1398insG (p.Glu467ArgfsTer13)
c.*4606_*4607insG (n.*4606_*4607insG)
c.1136_1137insG (p.Glu380ArgfsTer13)
c.5-7140_5-7139insG (n.5-7140_5-7139insG)
c.296_297insG (p.Glu100ArgfsTer13)
c.-98-20901_-98-20900insG (n.-98-20901_-98-20900insG)
n.4959_4960insG
n.5000_5001insG
 ClinVar dbSNP
17g.43071091G>ACA003038BRCA1c.4820C>T (p.Ala1607Val)
c.4823C>T (p.Ala1608Val)
c.4697C>T (p.Ala1566Val)
c.4817C>T (p.Ala1606Val)
c.4745C>T (p.Ala1582Val)
c.1511C>T (p.Ala504Val)
c.1373C>T (p.Ala458Val)
c.3935C>T (p.Ala1312Val)
c.4700C>T (p.Ala1567Val)
c.4889C>T (p.Ala1630Val)
c.4682C>T (p.Ala1561Val)
c.1385C>T (p.Ala462Val)
c.1430C>T (p.Ala477Val)
c.4886C>T (p.Ala1629Val)
c.1210C>T
c.1397C>T (p.Ala466Val)
c.*4606C>T (n.*4606C>T)
c.1136C>T (p.Ala379Val)
c.5-7140C>T (n.5-7140C>T)
c.296C>T (p.Ala99Val)
c.-98-20901C>T (n.-98-20901C>T)
n.4959C>T
n.5000C>T
 ClinVar dbSNP
17g.43071091G>CCA10591874BRCA1c.4820C>G (p.Ala1607Gly)
c.4823C>G (p.Ala1608Gly)
c.4697C>G (p.Ala1566Gly)
c.4817C>G (p.Ala1606Gly)
c.4745C>G (p.Ala1582Gly)
c.1511C>G (p.Ala504Gly)
c.1373C>G (p.Ala458Gly)
c.3935C>G (p.Ala1312Gly)
c.4700C>G (p.Ala1567Gly)
c.4889C>G (p.Ala1630Gly)
c.4682C>G (p.Ala1561Gly)
c.1385C>G (p.Ala462Gly)
c.1430C>G (p.Ala477Gly)
c.4886C>G (p.Ala1629Gly)
c.1210C>G
c.1397C>G (p.Ala466Gly)
c.*4606C>G (n.*4606C>G)
c.1136C>G (p.Ala379Gly)
c.5-7140C>G (n.5-7140C>G)
c.296C>G (p.Ala99Gly)
c.-98-20901C>G (n.-98-20901C>G)
n.4959C>G
n.5000C>G
 dbSNP
17g.43071091G=CA2260772907BRCA1c.4820C= (p.Ala1607=)
c.4823C= (p.Ala1608=)
c.4697C= (p.Ala1566=)
c.4817C= (p.Ala1606=)
c.4745C= (p.Ala1582=)
c.1511C= (p.Ala504=)
c.1373C= (p.Ala458=)
c.3935C= (p.Ala1312=)
c.4700C= (p.Ala1567=)
c.4889C= (p.Ala1630=)
c.4682C= (p.Ala1561=)
c.1385C= (p.Ala462=)
c.1430C= (p.Ala477=)
c.4886C= (p.Ala1629=)
c.1210C=
c.1397C= (p.Ala466=)
c.*4606C= (n.*4606C=)
c.1136C= (p.Ala379=)
c.5-7140C= (n.5-7140C=)
c.296C= (p.Ala99=)
c.-98-20901C= (n.-98-20901C=)
n.4959C=
n.5000C=
17g.43071091G>TCA10591875BRCA1c.4820C>A (p.Ala1607Glu)
c.4823C>A (p.Ala1608Glu)
c.4697C>A (p.Ala1566Glu)
c.4817C>A (p.Ala1606Glu)
c.4745C>A (p.Ala1582Glu)
c.1511C>A (p.Ala504Glu)
c.1373C>A (p.Ala458Glu)
c.3935C>A (p.Ala1312Glu)
c.4700C>A (p.Ala1567Glu)
c.4889C>A (p.Ala1630Glu)
c.4682C>A (p.Ala1561Glu)
c.1385C>A (p.Ala462Glu)
c.1430C>A (p.Ala477Glu)
c.4886C>A (p.Ala1629Glu)
c.1210C>A
c.1397C>A (p.Ala466Glu)
c.*4606C>A (n.*4606C>A)
c.1136C>A (p.Ala379Glu)
c.5-7140C>A (n.5-7140C>A)
c.296C>A (p.Ala99Glu)
c.-98-20901C>A (n.-98-20901C>A)
n.4959C>A
n.5000C>A
 dbSNP gnomAD v4
17g.43071092C>ACA10591876BRCA1c.4819G>T (p.Ala1607Ser)
c.4822G>T (p.Ala1608Ser)
c.4696G>T (p.Ala1566Ser)
c.4816G>T (p.Ala1606Ser)
c.4744G>T (p.Ala1582Ser)
c.1510G>T (p.Ala504Ser)
c.1372G>T (p.Ala458Ser)
c.3934G>T (p.Ala1312Ser)
c.4699G>T (p.Ala1567Ser)
c.4888G>T (p.Ala1630Ser)
c.4681G>T (p.Ala1561Ser)
c.1384G>T (p.Ala462Ser)
c.1429G>T (p.Ala477Ser)
c.4885G>T (p.Ala1629Ser)
c.1209G>T
c.1396G>T (p.Ala466Ser)
c.*4605G>T (n.*4605G>T)
c.1135G>T (p.Ala379Ser)
c.5-7141G>T (n.5-7141G>T)
c.295G>T (p.Ala99Ser)
c.-98-20902G>T (n.-98-20902G>T)
n.4958G>T
n.4999G>T
17g.43071092C=CA2260772909BRCA1c.4819G= (p.Ala1607=)
c.4822G= (p.Ala1608=)
c.4696G= (p.Ala1566=)
c.4816G= (p.Ala1606=)
c.4744G= (p.Ala1582=)
c.1510G= (p.Ala504=)
c.1372G= (p.Ala458=)
c.3934G= (p.Ala1312=)
c.4699G= (p.Ala1567=)
c.4888G= (p.Ala1630=)
c.4681G= (p.Ala1561=)
c.1384G= (p.Ala462=)
c.1429G= (p.Ala477=)
c.4885G= (p.Ala1629=)
c.1209G=
c.1396G= (p.Ala466=)
c.*4605G= (n.*4605G=)
c.1135G= (p.Ala379=)
c.5-7141G= (n.5-7141G=)
c.295G= (p.Ala99=)
c.-98-20902G= (n.-98-20902G=)
n.4958G=
n.4999G=
17g.43071092C>GCA10591877BRCA1c.4819G>C (p.Ala1607Pro)
c.4822G>C (p.Ala1608Pro)
c.4696G>C (p.Ala1566Pro)
c.4816G>C (p.Ala1606Pro)
c.4744G>C (p.Ala1582Pro)
c.1510G>C (p.Ala504Pro)
c.1372G>C (p.Ala458Pro)
c.3934G>C (p.Ala1312Pro)
c.4699G>C (p.Ala1567Pro)
c.4888G>C (p.Ala1630Pro)
c.4681G>C (p.Ala1561Pro)
c.1384G>C (p.Ala462Pro)
c.1429G>C (p.Ala477Pro)
c.4885G>C (p.Ala1629Pro)
c.1209G>C
c.1396G>C (p.Ala466Pro)
c.*4605G>C (n.*4605G>C)
c.1135G>C (p.Ala379Pro)
c.5-7141G>C (n.5-7141G>C)
c.295G>C (p.Ala99Pro)
c.-98-20902G>C (n.-98-20902G>C)
n.4958G>C
n.4999G>C
17g.43071092C>TCA10591878BRCA1c.4819G>A (p.Ala1607Thr)
c.4822G>A (p.Ala1608Thr)
c.4696G>A (p.Ala1566Thr)
c.4816G>A (p.Ala1606Thr)
c.4744G>A (p.Ala1582Thr)
c.1510G>A (p.Ala504Thr)
c.1372G>A (p.Ala458Thr)
c.3934G>A (p.Ala1312Thr)
c.4699G>A (p.Ala1567Thr)
c.4888G>A (p.Ala1630Thr)
c.4681G>A (p.Ala1561Thr)
c.1384G>A (p.Ala462Thr)
c.1429G>A (p.Ala477Thr)
c.4885G>A (p.Ala1629Thr)
c.1209G>A
c.1396G>A (p.Ala466Thr)
c.*4605G>A (n.*4605G>A)
c.1135G>A (p.Ala379Thr)
c.5-7141G>A (n.5-7141G>A)
c.295G>A (p.Ala99Thr)
c.-98-20902G>A (n.-98-20902G>A)
n.4958G>A
n.4999G>A
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
17g.43071092dupCA645373143BRCA1c.4819dup (p.Ala1607GlyfsTer14)
c.4822dup (p.Ala1608GlyfsTer14)
c.4696dup (p.Ala1566GlyfsTer14)
c.4816dup (p.Ala1606GlyfsTer14)
c.4744dup (p.Ala1582GlyfsTer14)
c.1510dup (p.Ala504GlyfsTer14)
c.1372dup (p.Ala458GlyfsTer14)
c.3934dup (p.Ala1312GlyfsTer14)
c.4699dup (p.Ala1567GlyfsTer14)
c.4888dup (p.Ala1630GlyfsTer14)
c.4681dup (p.Ala1561GlyfsTer14)
c.1384dup (p.Ala462GlyfsTer14)
c.1429dup (p.Ala477GlyfsTer14)
c.4885dup (p.Ala1629GlyfsTer14)
c.1209dup
c.1396dup (p.Ala466GlyfsTer14)
c.*4605dup (n.*4605dup)
c.1135dup (p.Ala379GlyfsTer14)
c.5-7141dup (n.5-7141dup)
c.295dup (p.Ala99GlyfsTer14)
c.-98-20902dup (n.-98-20902dup)
n.4958dup
n.4999dup
 ClinVar dbSNP
17g.43071092_43071107delinsCAACTTTCAATTGGGGCA2260772908BRCA1c.4804_4819delinsCCCCAATTGAAAGTTG (p.Pro1602=)
c.4807_4822delinsCCCCAATTGAAAGTTG (p.Pro1603=)
c.4681_4696delinsCCCCAATTGAAAGTTG (p.Pro1561=)
c.4801_4816delinsCCCCAATTGAAAGTTG (p.Pro1601=)
c.4729_4744delinsCCCCAATTGAAAGTTG (p.Pro1577=)
c.1495_1510delinsCCCCAATTGAAAGTTG (p.Pro499=)
c.1357_1372delinsCCCCAATTGAAAGTTG (p.Pro453=)
c.3919_3934delinsCCCCAATTGAAAGTTG (p.Pro1307=)
c.4684_4699delinsCCCCAATTGAAAGTTG (p.Pro1562=)
c.4873_4888delinsCCCCAATTGAAAGTTG (p.Pro1625=)
c.4666_4681delinsCCCCAATTGAAAGTTG (p.Pro1556=)
c.1369_1384delinsCCCCAATTGAAAGTTG (p.Pro457=)
c.1414_1429delinsCCCCAATTGAAAGTTG (p.Pro472=)
c.4870_4885delinsCCCCAATTGAAAGTTG (p.Pro1624=)
c.1194_1209delinsCCCCAATTGAAAGTTG
c.1381_1396delinsCCCCAATTGAAAGTTG (p.Pro461=)
c.*4590_*4605delinsCCCCAATTGAAAGTTG (n.*4590_*4605delinsCCCCAATTGAAAGTTG)
c.1120_1135delinsCCCCAATTGAAAGTTG (p.Pro374=)
c.5-7156_5-7141delinsCCCCAATTGAAAGTTG (n.5-7156_5-7141delinsCCCCAATTGAAAGTTG)
c.280_295delinsCCCCAATTGAAAGTTG (p.Pro94=)
c.-98-20917_-98-20902delinsCCCCAATTGAAAGTTG (n.-98-20917_-98-20902delinsCCCCAATTGAAAGTTG)
n.4943_4958delinsCCCCAATTGAAAGTTG
n.4984_4999delinsCCCCAATTGAAAGTTG
17g.43071093A=CA2260772910BRCA1c.4818T= (p.Val1606=)
c.4821T= (p.Val1607=)
c.4695T= (p.Val1565=)
c.4815T= (p.Val1605=)
c.4743T= (p.Val1581=)
c.1509T= (p.Val503=)
c.1371T= (p.Val457=)
c.3933T= (p.Val1311=)
c.4698T= (p.Val1566=)
c.4887T= (p.Val1629=)
c.4680T= (p.Val1560=)
c.1383T= (p.Val461=)
c.1428T= (p.Val476=)
c.4884T= (p.Val1628=)
c.1208T=
c.1395T= (p.Val465=)
c.*4604T= (n.*4604T=)
c.1134T= (p.Val378=)
c.5-7142T= (n.5-7142T=)
c.294T= (p.Val98=)
c.-98-20903T= (n.-98-20903T=)
n.4957T=
n.4998T=
17g.43071093A>CCA500231818BRCA1c.4818T>G (p.Val1606=)
c.4821T>G (p.Val1607=)
c.4695T>G (p.Val1565=)
c.4815T>G (p.Val1605=)
c.4743T>G (p.Val1581=)
c.1509T>G (p.Val503=)
c.1371T>G (p.Val457=)
c.3933T>G (p.Val1311=)
c.4698T>G (p.Val1566=)
c.4887T>G (p.Val1629=)
c.4680T>G (p.Val1560=)
c.1383T>G (p.Val461=)
c.1428T>G (p.Val476=)
c.4884T>G (p.Val1628=)
c.1208T>G
c.1395T>G (p.Val465=)
c.*4604T>G (n.*4604T>G)
c.1134T>G (p.Val378=)
c.5-7142T>G (n.5-7142T>G)
c.294T>G (p.Val98=)
c.-98-20903T>G (n.-98-20903T>G)
n.4957T>G
n.4998T>G
17g.43071093A>GCA500231820BRCA1c.4818T>C (p.Val1606=)
c.4821T>C (p.Val1607=)
c.4695T>C (p.Val1565=)
c.4815T>C (p.Val1605=)
c.4743T>C (p.Val1581=)
c.1509T>C (p.Val503=)
c.1371T>C (p.Val457=)
c.3933T>C (p.Val1311=)
c.4698T>C (p.Val1566=)
c.4887T>C (p.Val1629=)
c.4680T>C (p.Val1560=)
c.1383T>C (p.Val461=)
c.1428T>C (p.Val476=)
c.4884T>C (p.Val1628=)
c.1208T>C
c.1395T>C (p.Val465=)
c.*4604T>C (n.*4604T>C)
c.1134T>C (p.Val378=)
c.5-7142T>C (n.5-7142T>C)
c.294T>C (p.Val98=)
c.-98-20903T>C (n.-98-20903T>C)
n.4957T>C
n.4998T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43071093A>TCA500231819BRCA1c.4818T>A (p.Val1606=)
c.4821T>A (p.Val1607=)
c.4695T>A (p.Val1565=)
c.4815T>A (p.Val1605=)
c.4743T>A (p.Val1581=)
c.1509T>A (p.Val503=)
c.1371T>A (p.Val457=)
c.3933T>A (p.Val1311=)
c.4698T>A (p.Val1566=)
c.4887T>A (p.Val1629=)
c.4680T>A (p.Val1560=)
c.1383T>A (p.Val461=)
c.1428T>A (p.Val476=)
c.4884T>A (p.Val1628=)
c.1208T>A
c.1395T>A (p.Val465=)
c.*4604T>A (n.*4604T>A)
c.1134T>A (p.Val378=)
c.5-7142T>A (n.5-7142T>A)
c.294T>A (p.Val98=)
c.-98-20903T>A (n.-98-20903T>A)
n.4957T>A
n.4998T>A
 dbSNP
17g.43071094delCA2499224395BRCA1c.4818del (p.Ala1607GlnfsTer25)
c.4821del (p.Ala1608GlnfsTer25)
c.4695del (p.Ala1566GlnfsTer25)
c.4815del (p.Ala1606GlnfsTer25)
c.4743del (p.Ala1582GlnfsTer25)
c.1509del (p.Ala504GlnfsTer25)
c.1371del (p.Ala458GlnfsTer25)
c.3933del (p.Ala1312GlnfsTer25)
c.4698del (p.Ala1567GlnfsTer25)
c.4887del (p.Ala1630GlnfsTer25)
c.4680del (p.Ala1561GlnfsTer25)
c.1383del (p.Ala462GlnfsTer25)
c.1428del (p.Ala477GlnfsTer25)
c.4884del (p.Ala1629GlnfsTer25)
c.1208del
c.1395del (p.Ala466GlnfsTer25)
c.*4604del (n.*4604del)
c.1134del (p.Ala379GlnfsTer25)
c.5-7142del (n.5-7142del)
c.294del (p.Ala99GlnfsTer25)
c.-98-20903del (n.-98-20903del)
n.4957del
n.4998del
 ClinVar dbSNP
17g.43071103_43071117delCA003026BRCA1c.4804_4818del (p.Pro1602_Val1606del)
c.4807_4821del (p.Pro1603_Val1607del)
c.4681_4695del (p.Pro1561_Val1565del)
c.4801_4815del (p.Pro1601_Val1605del)
c.4729_4743del (p.Pro1577_Val1581del)
c.1495_1509del (p.Pro499_Val503del)
c.1357_1371del (p.Pro453_Val457del)
c.3919_3933del (p.Pro1307_Val1311del)
c.4684_4698del (p.Pro1562_Val1566del)
c.4873_4887del (p.Pro1625_Val1629del)
c.4666_4680del (p.Pro1556_Val1560del)
c.1369_1383del (p.Pro457_Val461del)
c.1414_1428del (p.Pro472_Val476del)
c.4870_4884del (p.Pro1624_Val1628del)
c.1194_1208del
c.1381_1395del (p.Pro461_Val465del)
c.*4590_*4604del (n.*4590_*4604del)
c.1120_1134del (p.Pro374_Val378del)
c.5-7156_5-7142del (n.5-7156_5-7142del)
c.280_294del (p.Pro94_Val98del)
c.-98-20917_-98-20903del (n.-98-20917_-98-20903del)
n.4943_4957del
n.4984_4998del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43071094A=CA2260772911BRCA1c.4817T= (p.Val1606=)
c.4820T= (p.Val1607=)
c.4694T= (p.Val1565=)
c.4814T= (p.Val1605=)
c.4742T= (p.Val1581=)
c.1508T= (p.Val503=)
c.1370T= (p.Val457=)
c.3932T= (p.Val1311=)
c.4697T= (p.Val1566=)
c.4886T= (p.Val1629=)
c.4679T= (p.Val1560=)
c.1382T= (p.Val461=)
c.1427T= (p.Val476=)
c.4883T= (p.Val1628=)
c.1207T=
c.1394T= (p.Val465=)
c.*4603T= (n.*4603T=)
c.1133T= (p.Val378=)
c.5-7143T= (n.5-7143T=)
c.293T= (p.Val98=)
c.-98-20904T= (n.-98-20904T=)
n.4956T=
n.4997T=
17g.43071094A>CCA10591879BRCA1c.4817T>G (p.Val1606Gly)
c.4820T>G (p.Val1607Gly)
c.4694T>G (p.Val1565Gly)
c.4814T>G (p.Val1605Gly)
c.4742T>G (p.Val1581Gly)
c.1508T>G (p.Val503Gly)
c.1370T>G (p.Val457Gly)
c.3932T>G (p.Val1311Gly)
c.4697T>G (p.Val1566Gly)
c.4886T>G (p.Val1629Gly)
c.4679T>G (p.Val1560Gly)
c.1382T>G (p.Val461Gly)
c.1427T>G (p.Val476Gly)
c.4883T>G (p.Val1628Gly)
c.1207T>G
c.1394T>G (p.Val465Gly)
c.*4603T>G (n.*4603T>G)
c.1133T>G (p.Val378Gly)
c.5-7143T>G (n.5-7143T>G)
c.293T>G (p.Val98Gly)
c.-98-20904T>G (n.-98-20904T>G)
n.4956T>G
n.4997T>G
 dbSNP
17g.43071094A>GCA10590061BRCA1c.4817T>C (p.Val1606Ala)
c.4820T>C (p.Val1607Ala)
c.4694T>C (p.Val1565Ala)
c.4814T>C (p.Val1605Ala)
c.4742T>C (p.Val1581Ala)
c.1508T>C (p.Val503Ala)
c.1370T>C (p.Val457Ala)
c.3932T>C (p.Val1311Ala)
c.4697T>C (p.Val1566Ala)
c.4886T>C (p.Val1629Ala)
c.4679T>C (p.Val1560Ala)
c.1382T>C (p.Val461Ala)
c.1427T>C (p.Val476Ala)
c.4883T>C (p.Val1628Ala)
c.1207T>C
c.1394T>C (p.Val465Ala)
c.*4603T>C (n.*4603T>C)
c.1133T>C (p.Val378Ala)
c.5-7143T>C (n.5-7143T>C)
c.293T>C (p.Val98Ala)
c.-98-20904T>C (n.-98-20904T>C)
n.4956T>C
n.4997T>C
 dbSNP
17g.43071094A>TCA10591880BRCA1c.4817T>A (p.Val1606Asp)
c.4820T>A (p.Val1607Asp)
c.4694T>A (p.Val1565Asp)
c.4814T>A (p.Val1605Asp)
c.4742T>A (p.Val1581Asp)
c.1508T>A (p.Val503Asp)
c.1370T>A (p.Val457Asp)
c.3932T>A (p.Val1311Asp)
c.4697T>A (p.Val1566Asp)
c.4886T>A (p.Val1629Asp)
c.4679T>A (p.Val1560Asp)
c.1382T>A (p.Val461Asp)
c.1427T>A (p.Val476Asp)
c.4883T>A (p.Val1628Asp)
c.1207T>A
c.1394T>A (p.Val465Asp)
c.*4603T>A (n.*4603T>A)
c.1133T>A (p.Val378Asp)
c.5-7143T>A (n.5-7143T>A)
c.293T>A (p.Val98Asp)
c.-98-20904T>A (n.-98-20904T>A)
n.4956T>A
n.4997T>A
 dbSNP
17g.43071095C>ACA10591881BRCA1c.4816G>T (p.Val1606Phe)
c.4819G>T (p.Val1607Phe)
c.4693G>T (p.Val1565Phe)
c.4813G>T (p.Val1605Phe)
c.4741G>T (p.Val1581Phe)
c.1507G>T (p.Val503Phe)
c.1369G>T (p.Val457Phe)
c.3931G>T (p.Val1311Phe)
c.4696G>T (p.Val1566Phe)
c.4885G>T (p.Val1629Phe)
c.4678G>T (p.Val1560Phe)
c.1381G>T (p.Val461Phe)
c.1426G>T (p.Val476Phe)
c.4882G>T (p.Val1628Phe)
c.1206G>T
c.1393G>T (p.Val465Phe)
c.*4602G>T (n.*4602G>T)
c.1132G>T (p.Val378Phe)
c.5-7144G>T (n.5-7144G>T)
c.292G>T (p.Val98Phe)
c.-98-20905G>T (n.-98-20905G>T)
n.4955G>T
n.4996G>T
17g.43071095C>GCA10591882BRCA1c.4816G>C (p.Val1606Leu)
c.4819G>C (p.Val1607Leu)
c.4693G>C (p.Val1565Leu)
c.4813G>C (p.Val1605Leu)
c.4741G>C (p.Val1581Leu)
c.1507G>C (p.Val503Leu)
c.1369G>C (p.Val457Leu)
c.3931G>C (p.Val1311Leu)
c.4696G>C (p.Val1566Leu)
c.4885G>C (p.Val1629Leu)
c.4678G>C (p.Val1560Leu)
c.1381G>C (p.Val461Leu)
c.1426G>C (p.Val476Leu)
c.4882G>C (p.Val1628Leu)
c.1206G>C
c.1393G>C (p.Val465Leu)
c.*4602G>C (n.*4602G>C)
c.1132G>C (p.Val378Leu)
c.5-7144G>C (n.5-7144G>C)
c.292G>C (p.Val98Leu)
c.-98-20905G>C (n.-98-20905G>C)
n.4955G>C
n.4996G>C
 dbSNP
17g.43071095C>TCA10591883BRCA1c.4816G>A (p.Val1606Ile)
c.4819G>A (p.Val1607Ile)
c.4693G>A (p.Val1565Ile)
c.4813G>A (p.Val1605Ile)
c.4741G>A (p.Val1581Ile)
c.1507G>A (p.Val503Ile)
c.1369G>A (p.Val457Ile)
c.3931G>A (p.Val1311Ile)
c.4696G>A (p.Val1566Ile)
c.4885G>A (p.Val1629Ile)
c.4678G>A (p.Val1560Ile)
c.1381G>A (p.Val461Ile)
c.1426G>A (p.Val476Ile)
c.4882G>A (p.Val1628Ile)
c.1206G>A
c.1393G>A (p.Val465Ile)
c.*4602G>A (n.*4602G>A)
c.1132G>A (p.Val378Ile)
c.5-7144G>A (n.5-7144G>A)
c.292G>A (p.Val98Ile)
c.-98-20905G>A (n.-98-20905G>A)
n.4955G>A
n.4996G>A
 gnomAD v4
17g.43071095_43071096delinsCTCA2260772912BRCA1c.4815_4816delinsAG (p.Lys1605=)
c.4818_4819delinsAG (p.Lys1606=)
c.4692_4693delinsAG (p.Lys1564=)
c.4812_4813delinsAG (p.Lys1604=)
c.4740_4741delinsAG (p.Lys1580=)
c.1506_1507delinsAG (p.Lys502=)
c.1368_1369delinsAG (p.Lys456=)
c.3930_3931delinsAG (p.Lys1310=)
c.4695_4696delinsAG (p.Lys1565=)
c.4884_4885delinsAG (p.Lys1628=)
c.4677_4678delinsAG (p.Lys1559=)
c.1380_1381delinsAG (p.Lys460=)
c.1425_1426delinsAG (p.Lys475=)
c.4881_4882delinsAG (p.Lys1627=)
c.1205_1206delinsAG
c.1392_1393delinsAG (p.Lys464=)
c.*4601_*4602delinsAG (n.*4601_*4602delinsAG)
c.1131_1132delinsAG (p.Lys377=)
c.5-7145_5-7144delinsAG (n.5-7145_5-7144delinsAG)
c.291_292delinsAG (p.Lys97=)
c.-98-20906_-98-20905delinsAG (n.-98-20906_-98-20905delinsAG)
n.4954_4955delinsAG
n.4995_4996delinsAG
17g.43071096T>ACA10591884BRCA1c.4815A>T (p.Lys1605Asn)
c.4818A>T (p.Lys1606Asn)
c.4692A>T (p.Lys1564Asn)
c.4812A>T (p.Lys1604Asn)
c.4740A>T (p.Lys1580Asn)
c.1506A>T (p.Lys502Asn)
c.1368A>T (p.Lys456Asn)
c.3930A>T (p.Lys1310Asn)
c.4695A>T (p.Lys1565Asn)
c.4884A>T (p.Lys1628Asn)
c.4677A>T (p.Lys1559Asn)
c.1380A>T (p.Lys460Asn)
c.1425A>T (p.Lys475Asn)
c.4881A>T (p.Lys1627Asn)
c.1205A>T
c.1392A>T (p.Lys464Asn)
c.*4601A>T (n.*4601A>T)
c.1131A>T (p.Lys377Asn)
c.5-7145A>T (n.5-7145A>T)
c.291A>T (p.Lys97Asn)
c.-98-20906A>T (n.-98-20906A>T)
n.4954A>T
n.4995A>T
 dbSNP gnomAD v4
17g.43071096T>CCA500231821BRCA1c.4815A>G (p.Lys1605=)
c.4818A>G (p.Lys1606=)
c.4692A>G (p.Lys1564=)
c.4812A>G (p.Lys1604=)
c.4740A>G (p.Lys1580=)
c.1506A>G (p.Lys502=)
c.1368A>G (p.Lys456=)
c.3930A>G (p.Lys1310=)
c.4695A>G (p.Lys1565=)
c.4884A>G (p.Lys1628=)
c.4677A>G (p.Lys1559=)
c.1380A>G (p.Lys460=)
c.1425A>G (p.Lys475=)
c.4881A>G (p.Lys1627=)
c.1205A>G
c.1392A>G (p.Lys464=)
c.*4601A>G (n.*4601A>G)
c.1131A>G (p.Lys377=)
c.5-7145A>G (n.5-7145A>G)
c.291A>G (p.Lys97=)
c.-98-20906A>G (n.-98-20906A>G)
n.4954A>G
n.4995A>G
 ClinVar
17g.43071096T>GCA10591885BRCA1c.4815A>C (p.Lys1605Asn)
c.4818A>C (p.Lys1606Asn)
c.4692A>C (p.Lys1564Asn)
c.4812A>C (p.Lys1604Asn)
c.4740A>C (p.Lys1580Asn)
c.1506A>C (p.Lys502Asn)
c.1368A>C (p.Lys456Asn)
c.3930A>C (p.Lys1310Asn)
c.4695A>C (p.Lys1565Asn)
c.4884A>C (p.Lys1628Asn)
c.4677A>C (p.Lys1559Asn)
c.1380A>C (p.Lys460Asn)
c.1425A>C (p.Lys475Asn)
c.4881A>C (p.Lys1627Asn)
c.1205A>C
c.1392A>C (p.Lys464Asn)
c.*4601A>C (n.*4601A>C)
c.1131A>C (p.Lys377Asn)
c.5-7145A>C (n.5-7145A>C)
c.291A>C (p.Lys97Asn)
c.-98-20906A>C (n.-98-20906A>C)
n.4954A>C
n.4995A>C
17g.43071098delCA658684115BRCA1c.4815del (p.Val1606LeufsTer26)
c.4818del (p.Val1607LeufsTer26)
c.4692del (p.Val1565LeufsTer26)
c.4812del (p.Val1605LeufsTer26)
c.4740del (p.Val1581LeufsTer26)
c.1506del (p.Val503LeufsTer26)
c.1368del (p.Val457LeufsTer26)
c.3930del (p.Val1311LeufsTer26)
c.4695del (p.Val1566LeufsTer26)
c.4884del (p.Val1629LeufsTer26)
c.4677del (p.Val1560LeufsTer26)
c.1380del (p.Val461LeufsTer26)
c.1425del (p.Val476LeufsTer26)
c.4881del (p.Val1628LeufsTer26)
c.1205del
c.1392del (p.Val465LeufsTer26)
c.*4601del (n.*4601del)
c.1131del (p.Val378LeufsTer26)
c.5-7145del (n.5-7145del)
c.291del (p.Val98LeufsTer26)
c.-98-20906del (n.-98-20906del)
n.4954del
n.4995del
 ClinVar dbSNP
17g.43071097T>ACA10591886BRCA1c.4814A>T (p.Lys1605Ile)
c.4817A>T (p.Lys1606Ile)
c.4691A>T (p.Lys1564Ile)
c.4811A>T (p.Lys1604Ile)
c.4739A>T (p.Lys1580Ile)
c.1505A>T (p.Lys502Ile)
c.1367A>T (p.Lys456Ile)
c.3929A>T (p.Lys1310Ile)
c.4694A>T (p.Lys1565Ile)
c.4883A>T (p.Lys1628Ile)
c.4676A>T (p.Lys1559Ile)
c.1379A>T (p.Lys460Ile)
c.1424A>T (p.Lys475Ile)
c.4880A>T (p.Lys1627Ile)
c.1204A>T
c.1391A>T (p.Lys464Ile)
c.*4600A>T (n.*4600A>T)
c.1130A>T (p.Lys377Ile)
c.5-7146A>T (n.5-7146A>T)
c.290A>T (p.Lys97Ile)
c.-98-20907A>T (n.-98-20907A>T)
n.4953A>T
n.4994A>T
 dbSNP
17g.43071097T>CCA10591887BRCA1c.4814A>G (p.Lys1605Arg)
c.4817A>G (p.Lys1606Arg)
c.4691A>G (p.Lys1564Arg)
c.4811A>G (p.Lys1604Arg)
c.4739A>G (p.Lys1580Arg)
c.1505A>G (p.Lys502Arg)
c.1367A>G (p.Lys456Arg)
c.3929A>G (p.Lys1310Arg)
c.4694A>G (p.Lys1565Arg)
c.4883A>G (p.Lys1628Arg)
c.4676A>G (p.Lys1559Arg)
c.1379A>G (p.Lys460Arg)
c.1424A>G (p.Lys475Arg)
c.4880A>G (p.Lys1627Arg)
c.1204A>G
c.1391A>G (p.Lys464Arg)
c.*4600A>G (n.*4600A>G)
c.1130A>G (p.Lys377Arg)
c.5-7146A>G (n.5-7146A>G)
c.290A>G (p.Lys97Arg)
c.-98-20907A>G (n.-98-20907A>G)
n.4953A>G
n.4994A>G
17g.43071097T>GCA10591888BRCA1c.4814A>C (p.Lys1605Thr)
c.4817A>C (p.Lys1606Thr)
c.4691A>C (p.Lys1564Thr)
c.4811A>C (p.Lys1604Thr)
c.4739A>C (p.Lys1580Thr)
c.1505A>C (p.Lys502Thr)
c.1367A>C (p.Lys456Thr)
c.3929A>C (p.Lys1310Thr)
c.4694A>C (p.Lys1565Thr)
c.4883A>C (p.Lys1628Thr)
c.4676A>C (p.Lys1559Thr)
c.1379A>C (p.Lys460Thr)
c.1424A>C (p.Lys475Thr)
c.4880A>C (p.Lys1627Thr)
c.1204A>C
c.1391A>C (p.Lys464Thr)
c.*4600A>C (n.*4600A>C)
c.1130A>C (p.Lys377Thr)
c.5-7146A>C (n.5-7146A>C)
c.290A>C (p.Lys97Thr)
c.-98-20907A>C (n.-98-20907A>C)
n.4953A>C
n.4994A>C
17g.43071098T>ACA10591889BRCA1c.4813A>T (p.Lys1605Ter)
c.4816A>T (p.Lys1606Ter)
c.4690A>T (p.Lys1564Ter)
c.4810A>T (p.Lys1604Ter)
c.4738A>T (p.Lys1580Ter)
c.1504A>T (p.Lys502Ter)
c.1366A>T (p.Lys456Ter)
c.3928A>T (p.Lys1310Ter)
c.4693A>T (p.Lys1565Ter)
c.4882A>T (p.Lys1628Ter)
c.4675A>T (p.Lys1559Ter)
c.1378A>T (p.Lys460Ter)
c.1423A>T (p.Lys475Ter)
c.4879A>T (p.Lys1627Ter)
c.1203A>T
c.1390A>T (p.Lys464Ter)
c.*4599A>T (n.*4599A>T)
c.1129A>T (p.Lys377Ter)
c.5-7147A>T (n.5-7147A>T)
c.289A>T (p.Lys97Ter)
c.-98-20908A>T (n.-98-20908A>T)
n.4952A>T
n.4993A>T
 dbSNP
17g.43071098T>CCA003037BRCA1c.4813A>G (p.Lys1605Glu)
c.4816A>G (p.Lys1606Glu)
c.4690A>G (p.Lys1564Glu)
c.4810A>G (p.Lys1604Glu)
c.4738A>G (p.Lys1580Glu)
c.1504A>G (p.Lys502Glu)
c.1366A>G (p.Lys456Glu)
c.3928A>G (p.Lys1310Glu)
c.4693A>G (p.Lys1565Glu)
c.4882A>G (p.Lys1628Glu)
c.4675A>G (p.Lys1559Glu)
c.1378A>G (p.Lys460Glu)
c.1423A>G (p.Lys475Glu)
c.4879A>G (p.Lys1627Glu)
c.1203A>G
c.1390A>G (p.Lys464Glu)
c.*4599A>G (n.*4599A>G)
c.1129A>G (p.Lys377Glu)
c.5-7147A>G (n.5-7147A>G)
c.289A>G (p.Lys97Glu)
c.-98-20908A>G (n.-98-20908A>G)
n.4952A>G
n.4993A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43071098T>GCA10591890BRCA1c.4813A>C (p.Lys1605Gln)
c.4816A>C (p.Lys1606Gln)
c.4690A>C (p.Lys1564Gln)
c.4810A>C (p.Lys1604Gln)
c.4738A>C (p.Lys1580Gln)
c.1504A>C (p.Lys502Gln)
c.1366A>C (p.Lys456Gln)
c.3928A>C (p.Lys1310Gln)
c.4693A>C (p.Lys1565Gln)
c.4882A>C (p.Lys1628Gln)
c.4675A>C (p.Lys1559Gln)
c.1378A>C (p.Lys460Gln)
c.1423A>C (p.Lys475Gln)
c.4879A>C (p.Lys1627Gln)
c.1203A>C
c.1390A>C (p.Lys464Gln)
c.*4599A>C (n.*4599A>C)
c.1129A>C (p.Lys377Gln)
c.5-7147A>C (n.5-7147A>C)
c.289A>C (p.Lys97Gln)
c.-98-20908A>C (n.-98-20908A>C)
n.4952A>C
n.4993A>C
17g.43071098T=CA2260772913BRCA1c.4813A= (p.Lys1605=)
c.4816A= (p.Lys1606=)
c.4690A= (p.Lys1564=)
c.4810A= (p.Lys1604=)
c.4738A= (p.Lys1580=)
c.1504A= (p.Lys502=)
c.1366A= (p.Lys456=)
c.3928A= (p.Lys1310=)
c.4693A= (p.Lys1565=)
c.4882A= (p.Lys1628=)
c.4675A= (p.Lys1559=)
c.1378A= (p.Lys460=)
c.1423A= (p.Lys475=)
c.4879A= (p.Lys1627=)
c.1203A=
c.1390A= (p.Lys464=)
c.*4599A= (n.*4599A=)
c.1129A= (p.Lys377=)
c.5-7147A= (n.5-7147A=)
c.289A= (p.Lys97=)
c.-98-20908A= (n.-98-20908A=)
n.4952A=
n.4993A=
17g.43071099delCA1139771847BRCA1c.4812del (p.Val1606LeufsTer26)
c.4815del (p.Val1607LeufsTer26)
c.4689del (p.Val1565LeufsTer26)
c.4809del (p.Val1605LeufsTer26)
c.4737del (p.Val1581LeufsTer26)
c.1503del (p.Val503LeufsTer26)
c.1365del (p.Val457LeufsTer26)
c.3927del (p.Val1311LeufsTer26)
c.4692del (p.Val1566LeufsTer26)
c.4881del (p.Val1629LeufsTer26)
c.4674del (p.Val1560LeufsTer26)
c.1377del (p.Val461LeufsTer26)
c.1422del (p.Val476LeufsTer26)
c.4878del (p.Val1628LeufsTer26)
c.1202del
c.1389del (p.Val465LeufsTer26)
c.*4598del (n.*4598del)
c.1128del (p.Val378LeufsTer26)
c.5-7148del (n.5-7148del)
c.288del (p.Val98LeufsTer26)
c.-98-20909del (n.-98-20909del)
n.4951del
n.4992del
17g.43071099C>ACA10591891BRCA1c.4812G>T (p.Leu1604Phe)
c.4815G>T (p.Leu1605Phe)
c.4689G>T (p.Leu1563Phe)
c.4809G>T (p.Leu1603Phe)
c.4737G>T (p.Leu1579Phe)
c.1503G>T (p.Leu501Phe)
c.1365G>T (p.Leu455Phe)
c.3927G>T (p.Leu1309Phe)
c.4692G>T (p.Leu1564Phe)
c.4881G>T (p.Leu1627Phe)
c.4674G>T (p.Leu1558Phe)
c.1377G>T (p.Leu459Phe)
c.1422G>T (p.Leu474Phe)
c.4878G>T (p.Leu1626Phe)
c.1202G>T
c.1389G>T (p.Leu463Phe)
c.*4598G>T (n.*4598G>T)
c.1128G>T (p.Leu376Phe)
c.5-7148G>T (n.5-7148G>T)
c.288G>T (p.Leu96Phe)
c.-98-20909G>T (n.-98-20909G>T)
n.4951G>T
n.4992G>T
17g.43071099C=CA2260772914BRCA1c.4812G= (p.Leu1604=)
c.4815G= (p.Leu1605=)
c.4689G= (p.Leu1563=)
c.4809G= (p.Leu1603=)
c.4737G= (p.Leu1579=)
c.1503G= (p.Leu501=)
c.1365G= (p.Leu455=)
c.3927G= (p.Leu1309=)
c.4692G= (p.Leu1564=)
c.4881G= (p.Leu1627=)
c.4674G= (p.Leu1558=)
c.1377G= (p.Leu459=)
c.1422G= (p.Leu474=)
c.4878G= (p.Leu1626=)
c.1202G=
c.1389G= (p.Leu463=)
c.*4598G= (n.*4598G=)
c.1128G= (p.Leu376=)
c.5-7148G= (n.5-7148G=)
c.288G= (p.Leu96=)
c.-98-20909G= (n.-98-20909G=)
n.4951G=
n.4992G=
17g.43071099C>GCA10591892BRCA1c.4812G>C (p.Leu1604Phe)
c.4815G>C (p.Leu1605Phe)
c.4689G>C (p.Leu1563Phe)
c.4809G>C (p.Leu1603Phe)
c.4737G>C (p.Leu1579Phe)
c.1503G>C (p.Leu501Phe)
c.1365G>C (p.Leu455Phe)
c.3927G>C (p.Leu1309Phe)
c.4692G>C (p.Leu1564Phe)
c.4881G>C (p.Leu1627Phe)
c.4674G>C (p.Leu1558Phe)
c.1377G>C (p.Leu459Phe)
c.1422G>C (p.Leu474Phe)
c.4878G>C (p.Leu1626Phe)
c.1202G>C
c.1389G>C (p.Leu463Phe)
c.*4598G>C (n.*4598G>C)
c.1128G>C (p.Leu376Phe)
c.5-7148G>C (n.5-7148G>C)
c.288G>C (p.Leu96Phe)
c.-98-20909G>C (n.-98-20909G>C)
n.4951G>C
n.4992G>C
 dbSNP
17g.43071099C>TCA16615756BRCA1c.4812G>A (p.Leu1604=)
c.4815G>A (p.Leu1605=)
c.4689G>A (p.Leu1563=)
c.4809G>A (p.Leu1603=)
c.4737G>A (p.Leu1579=)
c.1503G>A (p.Leu501=)
c.1365G>A (p.Leu455=)
c.3927G>A (p.Leu1309=)
c.4692G>A (p.Leu1564=)
c.4881G>A (p.Leu1627=)
c.4674G>A (p.Leu1558=)
c.1377G>A (p.Leu459=)
c.1422G>A (p.Leu474=)
c.4878G>A (p.Leu1626=)
c.1202G>A
c.1389G>A (p.Leu463=)
c.*4598G>A (n.*4598G>A)
c.1128G>A (p.Leu376=)
c.5-7148G>A (n.5-7148G>A)
c.288G>A (p.Leu96=)
c.-98-20909G>A (n.-98-20909G>A)
n.4951G>A
n.4992G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43071100A=CA2260772915BRCA1c.4811T= (p.Leu1604=)
c.4814T= (p.Leu1605=)
c.4688T= (p.Leu1563=)
c.4808T= (p.Leu1603=)
c.4736T= (p.Leu1579=)
c.1502T= (p.Leu501=)
c.1364T= (p.Leu455=)
c.3926T= (p.Leu1309=)
c.4691T= (p.Leu1564=)
c.4880T= (p.Leu1627=)
c.4673T= (p.Leu1558=)
c.1376T= (p.Leu459=)
c.1421T= (p.Leu474=)
c.4877T= (p.Leu1626=)
c.1201T=
c.1388T= (p.Leu463=)
c.*4597T= (n.*4597T=)
c.1127T= (p.Leu376=)
c.5-7149T= (n.5-7149T=)
c.287T= (p.Leu96=)
c.-98-20910T= (n.-98-20910T=)
n.4950T=
n.4991T=
17g.43071100A>CCA10591893BRCA1c.4811T>G (p.Leu1604Trp)
c.4814T>G (p.Leu1605Trp)
c.4688T>G (p.Leu1563Trp)
c.4808T>G (p.Leu1603Trp)
c.4736T>G (p.Leu1579Trp)
c.1502T>G (p.Leu501Trp)
c.1364T>G (p.Leu455Trp)
c.3926T>G (p.Leu1309Trp)
c.4691T>G (p.Leu1564Trp)
c.4880T>G (p.Leu1627Trp)
c.4673T>G (p.Leu1558Trp)
c.1376T>G (p.Leu459Trp)
c.1421T>G (p.Leu474Trp)
c.4877T>G (p.Leu1626Trp)
c.1201T>G
c.1388T>G (p.Leu463Trp)
c.*4597T>G (n.*4597T>G)
c.1127T>G (p.Leu376Trp)
c.5-7149T>G (n.5-7149T>G)
c.287T>G (p.Leu96Trp)
c.-98-20910T>G (n.-98-20910T>G)
n.4950T>G
n.4991T>G
17g.43071100A>GCA10591894BRCA1c.4811T>C (p.Leu1604Ser)
c.4814T>C (p.Leu1605Ser)
c.4688T>C (p.Leu1563Ser)
c.4808T>C (p.Leu1603Ser)
c.4736T>C (p.Leu1579Ser)
c.1502T>C (p.Leu501Ser)
c.1364T>C (p.Leu455Ser)
c.3926T>C (p.Leu1309Ser)
c.4691T>C (p.Leu1564Ser)
c.4880T>C (p.Leu1627Ser)
c.4673T>C (p.Leu1558Ser)
c.1376T>C (p.Leu459Ser)
c.1421T>C (p.Leu474Ser)
c.4877T>C (p.Leu1626Ser)
c.1201T>C
c.1388T>C (p.Leu463Ser)
c.*4597T>C (n.*4597T>C)
c.1127T>C (p.Leu376Ser)
c.5-7149T>C (n.5-7149T>C)
c.287T>C (p.Leu96Ser)
c.-98-20910T>C (n.-98-20910T>C)
n.4950T>C
n.4991T>C
 ClinVar dbSNP
17g.43071100A>TCA10591895BRCA1c.4811T>A (p.Leu1604Ter)
c.4814T>A (p.Leu1605Ter)
c.4688T>A (p.Leu1563Ter)
c.4808T>A (p.Leu1603Ter)
c.4736T>A (p.Leu1579Ter)
c.1502T>A (p.Leu501Ter)
c.1364T>A (p.Leu455Ter)
c.3926T>A (p.Leu1309Ter)
c.4691T>A (p.Leu1564Ter)
c.4880T>A (p.Leu1627Ter)
c.4673T>A (p.Leu1558Ter)
c.1376T>A (p.Leu459Ter)
c.1421T>A (p.Leu474Ter)
c.4877T>A (p.Leu1626Ter)
c.1201T>A
c.1388T>A (p.Leu463Ter)
c.*4597T>A (n.*4597T>A)
c.1127T>A (p.Leu376Ter)
c.5-7149T>A (n.5-7149T>A)
c.287T>A (p.Leu96Ter)
c.-98-20910T>A (n.-98-20910T>A)
n.4950T>A
n.4991T>A
 dbSNP
17g.43071102_43071103insAAATCA916080196BRCA1c.4811_4812insTATT (p.Leu1604PhefsTer18)
c.4814_4815insTATT (p.Leu1605PhefsTer18)
c.4688_4689insTATT (p.Leu1563PhefsTer18)
c.4808_4809insTATT (p.Leu1603PhefsTer18)
c.4736_4737insTATT (p.Leu1579PhefsTer18)
c.1502_1503insTATT (p.Leu501PhefsTer18)
c.1364_1365insTATT (p.Leu455PhefsTer18)
c.3926_3927insTATT (p.Leu1309PhefsTer18)
c.4691_4692insTATT (p.Leu1564PhefsTer18)
c.4880_4881insTATT (p.Leu1627PhefsTer18)
c.4673_4674insTATT (p.Leu1558PhefsTer18)
c.1376_1377insTATT (p.Leu459PhefsTer18)
c.1421_1422insTATT (p.Leu474PhefsTer18)
c.4877_4878insTATT (p.Leu1626PhefsTer18)
c.1201_1202insTATT
c.1388_1389insTATT (p.Leu463PhefsTer18)
c.*4597_*4598insTATT (n.*4597_*4598insTATT)
c.1127_1128insTATT (p.Leu376PhefsTer18)
c.5-7149_5-7148insTATT (n.5-7149_5-7148insTATT)
c.287_288insTATT (p.Leu96PhefsTer18)
c.-98-20910_-98-20909insTATT (n.-98-20910_-98-20909insTATT)
n.4950_4951insTATT
n.4991_4992insTATT
 ClinVar dbSNP
17g.43071101A=CA2260772916BRCA1c.4810T= (p.Leu1604=)
c.4813T= (p.Leu1605=)
c.4687T= (p.Leu1563=)
c.4807T= (p.Leu1603=)
c.4735T= (p.Leu1579=)
c.1501T= (p.Leu501=)
c.1363T= (p.Leu455=)
c.3925T= (p.Leu1309=)
c.4690T= (p.Leu1564=)
c.4879T= (p.Leu1627=)
c.4672T= (p.Leu1558=)
c.1375T= (p.Leu459=)
c.1420T= (p.Leu474=)
c.4876T= (p.Leu1626=)
c.1200T=
c.1387T= (p.Leu463=)
c.*4596T= (n.*4596T=)
c.1126T= (p.Leu376=)
c.5-7150T= (n.5-7150T=)
c.286T= (p.Leu96=)
c.-98-20911T= (n.-98-20911T=)
n.4949T=
n.4990T=
17g.43071101A>CCA003036BRCA1c.4810T>G (p.Leu1604Val)
c.4813T>G (p.Leu1605Val)
c.4687T>G (p.Leu1563Val)
c.4807T>G (p.Leu1603Val)
c.4735T>G (p.Leu1579Val)
c.1501T>G (p.Leu501Val)
c.1363T>G (p.Leu455Val)
c.3925T>G (p.Leu1309Val)
c.4690T>G (p.Leu1564Val)
c.4879T>G (p.Leu1627Val)
c.4672T>G (p.Leu1558Val)
c.1375T>G (p.Leu459Val)
c.1420T>G (p.Leu474Val)
c.4876T>G (p.Leu1626Val)
c.1200T>G
c.1387T>G (p.Leu463Val)
c.*4596T>G (n.*4596T>G)
c.1126T>G (p.Leu376Val)
c.5-7150T>G (n.5-7150T>G)
c.286T>G (p.Leu96Val)
c.-98-20911T>G (n.-98-20911T>G)
n.4949T>G
n.4990T>G
 ClinVar dbSNP
17g.43071101A>GCA003035BRCA1c.4810T>C (p.Leu1604=)
c.4813T>C (p.Leu1605=)
c.4687T>C (p.Leu1563=)
c.4807T>C (p.Leu1603=)
c.4735T>C (p.Leu1579=)
c.1501T>C (p.Leu501=)
c.1363T>C (p.Leu455=)
c.3925T>C (p.Leu1309=)
c.4690T>C (p.Leu1564=)
c.4879T>C (p.Leu1627=)
c.4672T>C (p.Leu1558=)
c.1375T>C (p.Leu459=)
c.1420T>C (p.Leu474=)
c.4876T>C (p.Leu1626=)
c.1200T>C
c.1387T>C (p.Leu463=)
c.*4596T>C (n.*4596T>C)
c.1126T>C (p.Leu376=)
c.5-7150T>C (n.5-7150T>C)
c.286T>C (p.Leu96=)
c.-98-20911T>C (n.-98-20911T>C)
n.4949T>C
n.4990T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43071101A>TCA003034BRCA1c.4810T>A (p.Leu1604Met)
c.4813T>A (p.Leu1605Met)
c.4687T>A (p.Leu1563Met)
c.4807T>A (p.Leu1603Met)
c.4735T>A (p.Leu1579Met)
c.1501T>A (p.Leu501Met)
c.1363T>A (p.Leu455Met)
c.3925T>A (p.Leu1309Met)
c.4690T>A (p.Leu1564Met)
c.4879T>A (p.Leu1627Met)
c.4672T>A (p.Leu1558Met)
c.1375T>A (p.Leu459Met)
c.1420T>A (p.Leu474Met)
c.4876T>A (p.Leu1626Met)
c.1200T>A
c.1387T>A (p.Leu463Met)
c.*4596T>A (n.*4596T>A)
c.1126T>A (p.Leu376Met)
c.5-7150T>A (n.5-7150T>A)
c.286T>A (p.Leu96Met)
c.-98-20911T>A (n.-98-20911T>A)
n.4949T>A
n.4990T>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43071102T>ACA10591896BRCA1c.4809A>T (p.Gln1603His)
c.4812A>T (p.Gln1604His)
c.4686A>T (p.Gln1562His)
c.4806A>T (p.Gln1602His)
c.4734A>T (p.Gln1578His)
c.1500A>T (p.Gln500His)
c.1362A>T (p.Gln454His)
c.3924A>T (p.Gln1308His)
c.4689A>T (p.Gln1563His)
c.4878A>T (p.Gln1626His)
c.4671A>T (p.Gln1557His)
c.1374A>T (p.Gln458His)
c.1419A>T (p.Gln473His)
c.4875A>T (p.Gln1625His)
c.1199A>T
c.1386A>T (p.Gln462His)
c.*4595A>T (n.*4595A>T)
c.1125A>T (p.Gln375His)
c.5-7151A>T (n.5-7151A>T)
c.285A>T (p.Gln95His)
c.-98-20912A>T (n.-98-20912A>T)
n.4948A>T
n.4989A>T
 dbSNP
17g.43071102T>CCA003033BRCA1c.4809A>G (p.Gln1603=)
c.4812A>G (p.Gln1604=)
c.4686A>G (p.Gln1562=)
c.4806A>G (p.Gln1602=)
c.4734A>G (p.Gln1578=)
c.1500A>G (p.Gln500=)
c.1362A>G (p.Gln454=)
c.3924A>G (p.Gln1308=)
c.4689A>G (p.Gln1563=)
c.4878A>G (p.Gln1626=)
c.4671A>G (p.Gln1557=)
c.1374A>G (p.Gln458=)
c.1419A>G (p.Gln473=)
c.4875A>G (p.Gln1625=)
c.1199A>G
c.1386A>G (p.Gln462=)
c.*4595A>G (n.*4595A>G)
c.1125A>G (p.Gln375=)
c.5-7151A>G (n.5-7151A>G)
c.285A>G (p.Gln95=)
c.-98-20912A>G (n.-98-20912A>G)
n.4948A>G
n.4989A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43071102T>GCA10591897BRCA1c.4809A>C (p.Gln1603His)
c.4812A>C (p.Gln1604His)
c.4686A>C (p.Gln1562His)
c.4806A>C (p.Gln1602His)
c.4734A>C (p.Gln1578His)
c.1500A>C (p.Gln500His)
c.1362A>C (p.Gln454His)
c.3924A>C (p.Gln1308His)
c.4689A>C (p.Gln1563His)
c.4878A>C (p.Gln1626His)
c.4671A>C (p.Gln1557His)
c.1374A>C (p.Gln458His)
c.1419A>C (p.Gln473His)
c.4875A>C (p.Gln1625His)
c.1199A>C
c.1386A>C (p.Gln462His)
c.*4595A>C (n.*4595A>C)
c.1125A>C (p.Gln375His)
c.5-7151A>C (n.5-7151A>C)
c.285A>C (p.Gln95His)
c.-98-20912A>C (n.-98-20912A>C)
n.4948A>C
n.4989A>C
17g.43071102T=CA2260772917BRCA1c.4809A= (p.Gln1603=)
c.4812A= (p.Gln1604=)
c.4686A= (p.Gln1562=)
c.4806A= (p.Gln1602=)
c.4734A= (p.Gln1578=)
c.1500A= (p.Gln500=)
c.1362A= (p.Gln454=)
c.3924A= (p.Gln1308=)
c.4689A= (p.Gln1563=)
c.4878A= (p.Gln1626=)
c.4671A= (p.Gln1557=)
c.1374A= (p.Gln458=)
c.1419A= (p.Gln473=)
c.4875A= (p.Gln1625=)
c.1199A=
c.1386A= (p.Gln462=)
c.*4595A= (n.*4595A=)
c.1125A= (p.Gln375=)
c.5-7151A= (n.5-7151A=)
c.285A= (p.Gln95=)
c.-98-20912A= (n.-98-20912A=)
n.4948A=
n.4989A=
17g.43071102_43071127delCA2695225907BRCA1c.4784_4809del (p.Ser1595PhefsTer17)
c.4787_4812del (p.Ser1596PhefsTer17)
c.4661_4686del (p.Ser1554PhefsTer17)
c.4781_4806del (p.Ser1594PhefsTer17)
c.4709_4734del (p.Ser1570PhefsTer17)
c.1475_1500del (p.Ser492PhefsTer17)
c.1337_1362del (p.Ser446PhefsTer17)
c.3899_3924del (p.Ser1300PhefsTer17)
c.4664_4689del (p.Ser1555PhefsTer17)
c.4853_4878del (p.Ser1618PhefsTer17)
c.4646_4671del (p.Ser1549PhefsTer17)
c.1349_1374del (p.Ser450PhefsTer17)
c.1394_1419del (p.Ser465PhefsTer17)
c.4850_4875del (p.Ser1617PhefsTer17)
c.1174_1199del
c.1361_1386del (p.Ser454PhefsTer17)
c.*4570_*4595del (n.*4570_*4595del)
c.1100_1125del (p.Ser367PhefsTer17)
c.5-7176_5-7151del (n.5-7176_5-7151del)
c.260_285del (p.Ser87PhefsTer17)
c.-98-20937_-98-20912del (n.-98-20937_-98-20912del)
n.4923_4948del
n.4964_4989del
17g.43071103T>ACA10591898BRCA1c.4808A>T (p.Gln1603Leu)
c.4811A>T (p.Gln1604Leu)
c.4685A>T (p.Gln1562Leu)
c.4805A>T (p.Gln1602Leu)
c.4733A>T (p.Gln1578Leu)
c.1499A>T (p.Gln500Leu)
c.1361A>T (p.Gln454Leu)
c.3923A>T (p.Gln1308Leu)
c.4688A>T (p.Gln1563Leu)
c.4877A>T (p.Gln1626Leu)
c.4670A>T (p.Gln1557Leu)
c.1373A>T (p.Gln458Leu)
c.1418A>T (p.Gln473Leu)
c.4874A>T (p.Gln1625Leu)
c.1198A>T
c.1385A>T (p.Gln462Leu)
c.*4594A>T (n.*4594A>T)
c.1124A>T (p.Gln375Leu)
c.5-7152A>T (n.5-7152A>T)
c.284A>T (p.Gln95Leu)
c.-98-20913A>T (n.-98-20913A>T)
n.4947A>T
n.4988A>T
 dbSNP
17g.43071103T>CCA003032BRCA1c.4808A>G (p.Gln1603Arg)
c.4811A>G (p.Gln1604Arg)
c.4685A>G (p.Gln1562Arg)
c.4805A>G (p.Gln1602Arg)
c.4733A>G (p.Gln1578Arg)
c.1499A>G (p.Gln500Arg)
c.1361A>G (p.Gln454Arg)
c.3923A>G (p.Gln1308Arg)
c.4688A>G (p.Gln1563Arg)
c.4877A>G (p.Gln1626Arg)
c.4670A>G (p.Gln1557Arg)
c.1373A>G (p.Gln458Arg)
c.1418A>G (p.Gln473Arg)
c.4874A>G (p.Gln1625Arg)
c.1198A>G
c.1385A>G (p.Gln462Arg)
c.*4594A>G (n.*4594A>G)
c.1124A>G (p.Gln375Arg)
c.5-7152A>G (n.5-7152A>G)
c.284A>G (p.Gln95Arg)
c.-98-20913A>G (n.-98-20913A>G)
n.4947A>G
n.4988A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43071103T>GCA10591899BRCA1c.4808A>C (p.Gln1603Pro)
c.4811A>C (p.Gln1604Pro)
c.4685A>C (p.Gln1562Pro)
c.4805A>C (p.Gln1602Pro)
c.4733A>C (p.Gln1578Pro)
c.1499A>C (p.Gln500Pro)
c.1361A>C (p.Gln454Pro)
c.3923A>C (p.Gln1308Pro)
c.4688A>C (p.Gln1563Pro)
c.4877A>C (p.Gln1626Pro)
c.4670A>C (p.Gln1557Pro)
c.1373A>C (p.Gln458Pro)
c.1418A>C (p.Gln473Pro)
c.4874A>C (p.Gln1625Pro)
c.1198A>C
c.1385A>C (p.Gln462Pro)
c.*4594A>C (n.*4594A>C)
c.1124A>C (p.Gln375Pro)
c.5-7152A>C (n.5-7152A>C)
c.284A>C (p.Gln95Pro)
c.-98-20913A>C (n.-98-20913A>C)
n.4947A>C
n.4988A>C
17g.43071103T=CA2260772918BRCA1c.4808A= (p.Gln1603=)
c.4811A= (p.Gln1604=)
c.4685A= (p.Gln1562=)
c.4805A= (p.Gln1602=)
c.4733A= (p.Gln1578=)
c.1499A= (p.Gln500=)
c.1361A= (p.Gln454=)
c.3923A= (p.Gln1308=)
c.4688A= (p.Gln1563=)
c.4877A= (p.Gln1626=)
c.4670A= (p.Gln1557=)
c.1373A= (p.Gln458=)
c.1418A= (p.Gln473=)
c.4874A= (p.Gln1625=)
c.1198A=
c.1385A= (p.Gln462=)
c.*4594A= (n.*4594A=)
c.1124A= (p.Gln375=)
c.5-7152A= (n.5-7152A=)
c.284A= (p.Gln95=)
c.-98-20913A= (n.-98-20913A=)
n.4947A=
n.4988A=
17g.43071103_43071104delinsTGCA2260772919BRCA1c.4807_4808delinsCA (p.Gln1603=)
c.4810_4811delinsCA (p.Gln1604=)
c.4684_4685delinsCA (p.Gln1562=)
c.4804_4805delinsCA (p.Gln1602=)
c.4732_4733delinsCA (p.Gln1578=)
c.1498_1499delinsCA (p.Gln500=)
c.1360_1361delinsCA (p.Gln454=)
c.3922_3923delinsCA (p.Gln1308=)
c.4687_4688delinsCA (p.Gln1563=)
c.4876_4877delinsCA (p.Gln1626=)
c.4669_4670delinsCA (p.Gln1557=)
c.1372_1373delinsCA (p.Gln458=)
c.1417_1418delinsCA (p.Gln473=)
c.4873_4874delinsCA (p.Gln1625=)
c.1197_1198delinsCA
c.1384_1385delinsCA (p.Gln462=)
c.*4593_*4594delinsCA (n.*4593_*4594delinsCA)
c.1123_1124delinsCA (p.Gln375=)
c.5-7153_5-7152delinsCA (n.5-7153_5-7152delinsCA)
c.283_284delinsCA (p.Gln95=)
c.-98-20914_-98-20913delinsCA (n.-98-20914_-98-20913delinsCA)
n.4946_4947delinsCA
n.4987_4988delinsCA
17g.43071104G>ACA003031BRCA1c.4807C>T (p.Gln1603Ter)
c.4810C>T (p.Gln1604Ter)
c.4684C>T (p.Gln1562Ter)
c.4804C>T (p.Gln1602Ter)
c.4732C>T (p.Gln1578Ter)
c.1498C>T (p.Gln500Ter)
c.1360C>T (p.Gln454Ter)
c.3922C>T (p.Gln1308Ter)
c.4687C>T (p.Gln1563Ter)
c.4876C>T (p.Gln1626Ter)
c.4669C>T (p.Gln1557Ter)
c.1372C>T (p.Gln458Ter)
c.1417C>T (p.Gln473Ter)
c.4873C>T (p.Gln1625Ter)
c.1197C>T
c.1384C>T (p.Gln462Ter)
c.*4593C>T (n.*4593C>T)
c.1123C>T (p.Gln375Ter)
c.5-7153C>T (n.5-7153C>T)
c.283C>T (p.Gln95Ter)
c.-98-20914C>T (n.-98-20914C>T)
n.4946C>T
n.4987C>T
 ClinVar dbSNP COSMIC COSMIC
17g.43071104G>CCA10591900BRCA1c.4807C>G (p.Gln1603Glu)
c.4810C>G (p.Gln1604Glu)
c.4684C>G (p.Gln1562Glu)
c.4804C>G (p.Gln1602Glu)
c.4732C>G (p.Gln1578Glu)
c.1498C>G (p.Gln500Glu)
c.1360C>G (p.Gln454Glu)
c.3922C>G (p.Gln1308Glu)
c.4687C>G (p.Gln1563Glu)
c.4876C>G (p.Gln1626Glu)
c.4669C>G (p.Gln1557Glu)
c.1372C>G (p.Gln458Glu)
c.1417C>G (p.Gln473Glu)
c.4873C>G (p.Gln1625Glu)
c.1197C>G
c.1384C>G (p.Gln462Glu)
c.*4593C>G (n.*4593C>G)
c.1123C>G (p.Gln375Glu)
c.5-7153C>G (n.5-7153C>G)
c.283C>G (p.Gln95Glu)
c.-98-20914C>G (n.-98-20914C>G)
n.4946C>G
n.4987C>G
 ClinVar dbSNP
17g.43071104G=CA2260772920BRCA1c.4807C= (p.Gln1603=)
c.4810C= (p.Gln1604=)
c.4684C= (p.Gln1562=)
c.4804C= (p.Gln1602=)
c.4732C= (p.Gln1578=)
c.1498C= (p.Gln500=)
c.1360C= (p.Gln454=)
c.3922C= (p.Gln1308=)
c.4687C= (p.Gln1563=)
c.4876C= (p.Gln1626=)
c.4669C= (p.Gln1557=)
c.1372C= (p.Gln458=)
c.1417C= (p.Gln473=)
c.4873C= (p.Gln1625=)
c.1197C=
c.1384C= (p.Gln462=)
c.*4593C= (n.*4593C=)
c.1123C= (p.Gln375=)
c.5-7153C= (n.5-7153C=)
c.283C= (p.Gln95=)
c.-98-20914C= (n.-98-20914C=)
n.4946C=
n.4987C=
17g.43071104G>TCA10591901BRCA1c.4807C>A (p.Gln1603Lys)
c.4810C>A (p.Gln1604Lys)
c.4684C>A (p.Gln1562Lys)
c.4804C>A (p.Gln1602Lys)
c.4732C>A (p.Gln1578Lys)
c.1498C>A (p.Gln500Lys)
c.1360C>A (p.Gln454Lys)
c.3922C>A (p.Gln1308Lys)
c.4687C>A (p.Gln1563Lys)
c.4876C>A (p.Gln1626Lys)
c.4669C>A (p.Gln1557Lys)
c.1372C>A (p.Gln458Lys)
c.1417C>A (p.Gln473Lys)
c.4873C>A (p.Gln1625Lys)
c.1197C>A
c.1384C>A (p.Gln462Lys)
c.*4593C>A (n.*4593C>A)
c.1123C>A (p.Gln375Lys)
c.5-7153C>A (n.5-7153C>A)
c.283C>A (p.Gln95Lys)
c.-98-20914C>A (n.-98-20914C>A)
n.4946C>A
n.4987C>A
 ClinVar dbSNP
17g.43071107delCA658825007BRCA1c.4807del (p.Gln1603AsnfsTer2)
c.4810del (p.Gln1604AsnfsTer2)
c.4684del (p.Gln1562AsnfsTer2)
c.4804del (p.Gln1602AsnfsTer2)
c.4732del (p.Gln1578AsnfsTer2)
c.1498del (p.Gln500AsnfsTer2)
c.1360del (p.Gln454AsnfsTer2)
c.3922del (p.Gln1308AsnfsTer2)
c.4687del (p.Gln1563AsnfsTer2)
c.4876del (p.Gln1626AsnfsTer2)
c.4669del (p.Gln1557AsnfsTer2)
c.1372del (p.Gln458AsnfsTer2)
c.1417del (p.Gln473AsnfsTer2)
c.4873del (p.Gln1625AsnfsTer2)
c.1197del
c.1384del (p.Gln462AsnfsTer2)
c.*4593del (n.*4593del)
c.1123del (p.Gln375AsnfsTer2)
c.5-7153del (n.5-7153del)
c.283del (p.Gln95AsnfsTer2)
c.-98-20914del (n.-98-20914del)
n.4946del
n.4987del
 ClinVar dbSNP
17g.43071105G>ACA500231824BRCA1c.4806C>T (p.Pro1602=)
c.4809C>T (p.Pro1603=)
c.4683C>T (p.Pro1561=)
c.4803C>T (p.Pro1601=)
c.4731C>T (p.Pro1577=)
c.1497C>T (p.Pro499=)
c.1359C>T (p.Pro453=)
c.3921C>T (p.Pro1307=)
c.4686C>T (p.Pro1562=)
c.4875C>T (p.Pro1625=)
c.4668C>T (p.Pro1556=)
c.1371C>T (p.Pro457=)
c.1416C>T (p.Pro472=)
c.4872C>T (p.Pro1624=)
c.1196C>T
c.1383C>T (p.Pro461=)
c.*4592C>T (n.*4592C>T)
c.1122C>T (p.Pro374=)
c.5-7154C>T (n.5-7154C>T)
c.282C>T (p.Pro94=)
c.-98-20915C>T (n.-98-20915C>T)
n.4945C>T
n.4986C>T
 ClinVar dbSNP
17g.43071105G>CCA500231822BRCA1c.4806C>G (p.Pro1602=)
c.4809C>G (p.Pro1603=)
c.4683C>G (p.Pro1561=)
c.4803C>G (p.Pro1601=)
c.4731C>G (p.Pro1577=)
c.1497C>G (p.Pro499=)
c.1359C>G (p.Pro453=)
c.3921C>G (p.Pro1307=)
c.4686C>G (p.Pro1562=)
c.4875C>G (p.Pro1625=)
c.4668C>G (p.Pro1556=)
c.1371C>G (p.Pro457=)
c.1416C>G (p.Pro472=)
c.4872C>G (p.Pro1624=)
c.1196C>G
c.1383C>G (p.Pro461=)
c.*4592C>G (n.*4592C>G)
c.1122C>G (p.Pro374=)
c.5-7154C>G (n.5-7154C>G)
c.282C>G (p.Pro94=)
c.-98-20915C>G (n.-98-20915C>G)
n.4945C>G
n.4986C>G
 dbSNP
17g.43071105G>TCA500231823BRCA1c.4806C>A (p.Pro1602=)
c.4809C>A (p.Pro1603=)
c.4683C>A (p.Pro1561=)
c.4803C>A (p.Pro1601=)
c.4731C>A (p.Pro1577=)
c.1497C>A (p.Pro499=)
c.1359C>A (p.Pro453=)
c.3921C>A (p.Pro1307=)
c.4686C>A (p.Pro1562=)
c.4875C>A (p.Pro1625=)
c.4668C>A (p.Pro1556=)
c.1371C>A (p.Pro457=)
c.1416C>A (p.Pro472=)
c.4872C>A (p.Pro1624=)
c.1196C>A
c.1383C>A (p.Pro461=)
c.*4592C>A (n.*4592C>A)
c.1122C>A (p.Pro374=)
c.5-7154C>A (n.5-7154C>A)
c.282C>A (p.Pro94=)
c.-98-20915C>A (n.-98-20915C>A)
n.4945C>A
n.4986C>A
 dbSNP
17g.43071106G>ACA10591902BRCA1c.4805C>T (p.Pro1602Leu)
c.4808C>T (p.Pro1603Leu)
c.4682C>T (p.Pro1561Leu)
c.4802C>T (p.Pro1601Leu)
c.4730C>T (p.Pro1577Leu)
c.1496C>T (p.Pro499Leu)
c.1358C>T (p.Pro453Leu)
c.3920C>T (p.Pro1307Leu)
c.4685C>T (p.Pro1562Leu)
c.4874C>T (p.Pro1625Leu)
c.4667C>T (p.Pro1556Leu)
c.1370C>T (p.Pro457Leu)
c.1415C>T (p.Pro472Leu)
c.4871C>T (p.Pro1624Leu)
c.1195C>T
c.1382C>T (p.Pro461Leu)
c.*4591C>T (n.*4591C>T)
c.1121C>T (p.Pro374Leu)
c.5-7155C>T (n.5-7155C>T)
c.281C>T (p.Pro94Leu)
c.-98-20916C>T (n.-98-20916C>T)
n.4944C>T
n.4985C>T
 ClinVar dbSNP
17g.43071106G>CCA10591903BRCA1c.4805C>G (p.Pro1602Arg)
c.4808C>G (p.Pro1603Arg)
c.4682C>G (p.Pro1561Arg)
c.4802C>G (p.Pro1601Arg)
c.4730C>G (p.Pro1577Arg)
c.1496C>G (p.Pro499Arg)
c.1358C>G (p.Pro453Arg)
c.3920C>G (p.Pro1307Arg)
c.4685C>G (p.Pro1562Arg)
c.4874C>G (p.Pro1625Arg)
c.4667C>G (p.Pro1556Arg)
c.1370C>G (p.Pro457Arg)
c.1415C>G (p.Pro472Arg)
c.4871C>G (p.Pro1624Arg)
c.1195C>G
c.1382C>G (p.Pro461Arg)
c.*4591C>G (n.*4591C>G)
c.1121C>G (p.Pro374Arg)
c.5-7155C>G (n.5-7155C>G)
c.281C>G (p.Pro94Arg)
c.-98-20916C>G (n.-98-20916C>G)
n.4944C>G
n.4985C>G
 dbSNP gnomAD v4
17g.43071106G=CA2260772921BRCA1c.4805C= (p.Pro1602=)
c.4808C= (p.Pro1603=)
c.4682C= (p.Pro1561=)
c.4802C= (p.Pro1601=)
c.4730C= (p.Pro1577=)
c.1496C= (p.Pro499=)
c.1358C= (p.Pro453=)
c.3920C= (p.Pro1307=)
c.4685C= (p.Pro1562=)
c.4874C= (p.Pro1625=)
c.4667C= (p.Pro1556=)
c.1370C= (p.Pro457=)
c.1415C= (p.Pro472=)
c.4871C= (p.Pro1624=)
c.1195C=
c.1382C= (p.Pro461=)
c.*4591C= (n.*4591C=)
c.1121C= (p.Pro374=)
c.5-7155C= (n.5-7155C=)
c.281C= (p.Pro94=)
c.-98-20916C= (n.-98-20916C=)
n.4944C=
n.4985C=
17g.43071106G>TCA10591904BRCA1c.4805C>A (p.Pro1602His)
c.4808C>A (p.Pro1603His)
c.4682C>A (p.Pro1561His)
c.4802C>A (p.Pro1601His)
c.4730C>A (p.Pro1577His)
c.1496C>A (p.Pro499His)
c.1358C>A (p.Pro453His)
c.3920C>A (p.Pro1307His)
c.4685C>A (p.Pro1562His)
c.4874C>A (p.Pro1625His)
c.4667C>A (p.Pro1556His)
c.1370C>A (p.Pro457His)
c.1415C>A (p.Pro472His)
c.4871C>A (p.Pro1624His)
c.1195C>A
c.1382C>A (p.Pro461His)
c.*4591C>A (n.*4591C>A)
c.1121C>A (p.Pro374His)
c.5-7155C>A (n.5-7155C>A)
c.281C>A (p.Pro94His)
c.-98-20916C>A (n.-98-20916C>A)
n.4944C>A
n.4985C>A
 dbSNP
17g.43071107G>ACA10591905BRCA1c.4804C>T (p.Pro1602Ser)
c.4807C>T (p.Pro1603Ser)
c.4681C>T (p.Pro1561Ser)
c.4801C>T (p.Pro1601Ser)
c.4729C>T (p.Pro1577Ser)
c.1495C>T (p.Pro499Ser)
c.1357C>T (p.Pro453Ser)
c.3919C>T (p.Pro1307Ser)
c.4684C>T (p.Pro1562Ser)
c.4873C>T (p.Pro1625Ser)
c.4666C>T (p.Pro1556Ser)
c.1369C>T (p.Pro457Ser)
c.1414C>T (p.Pro472Ser)
c.4870C>T (p.Pro1624Ser)
c.1194C>T
c.1381C>T (p.Pro461Ser)
c.*4590C>T (n.*4590C>T)
c.1120C>T (p.Pro374Ser)
c.5-7156C>T (n.5-7156C>T)
c.280C>T (p.Pro94Ser)
c.-98-20917C>T (n.-98-20917C>T)
n.4943C>T
n.4984C>T
 dbSNP
17g.43071107G>CCA10591906BRCA1c.4804C>G (p.Pro1602Ala)
c.4807C>G (p.Pro1603Ala)
c.4681C>G (p.Pro1561Ala)
c.4801C>G (p.Pro1601Ala)
c.4729C>G (p.Pro1577Ala)
c.1495C>G (p.Pro499Ala)
c.1357C>G (p.Pro453Ala)
c.3919C>G (p.Pro1307Ala)
c.4684C>G (p.Pro1562Ala)
c.4873C>G (p.Pro1625Ala)
c.4666C>G (p.Pro1556Ala)
c.1369C>G (p.Pro457Ala)
c.1414C>G (p.Pro472Ala)
c.4870C>G (p.Pro1624Ala)
c.1194C>G
c.1381C>G (p.Pro461Ala)
c.*4590C>G (n.*4590C>G)
c.1120C>G (p.Pro374Ala)
c.5-7156C>G (n.5-7156C>G)
c.280C>G (p.Pro94Ala)
c.-98-20917C>G (n.-98-20917C>G)
n.4943C>G
n.4984C>G
 dbSNP
17g.43071107G>TCA10591907BRCA1c.4804C>A (p.Pro1602Thr)
c.4807C>A (p.Pro1603Thr)
c.4681C>A (p.Pro1561Thr)
c.4801C>A (p.Pro1601Thr)
c.4729C>A (p.Pro1577Thr)
c.1495C>A (p.Pro499Thr)
c.1357C>A (p.Pro453Thr)
c.3919C>A (p.Pro1307Thr)
c.4684C>A (p.Pro1562Thr)
c.4873C>A (p.Pro1625Thr)
c.4666C>A (p.Pro1556Thr)
c.1369C>A (p.Pro457Thr)
c.1414C>A (p.Pro472Thr)
c.4870C>A (p.Pro1624Thr)
c.1194C>A
c.1381C>A (p.Pro461Thr)
c.*4590C>A (n.*4590C>A)
c.1120C>A (p.Pro374Thr)
c.5-7156C>A (n.5-7156C>A)
c.280C>A (p.Pro94Thr)
c.-98-20917C>A (n.-98-20917C>A)
n.4943C>A
n.4984C>A
 dbSNP COSMIC COSMIC
17g.43071107_43071108delinsGACA2260772922BRCA1c.4803_4804delinsTC (p.Val1601=)
c.4806_4807delinsTC (p.Val1602=)
c.4680_4681delinsTC (p.Val1560=)
c.4800_4801delinsTC (p.Val1600=)
c.4728_4729delinsTC (p.Val1576=)
c.1494_1495delinsTC (p.Val498=)
c.1356_1357delinsTC (p.Val452=)
c.3918_3919delinsTC (p.Val1306=)
c.4683_4684delinsTC (p.Val1561=)
c.4872_4873delinsTC (p.Val1624=)
c.4665_4666delinsTC (p.Val1555=)
c.1368_1369delinsTC (p.Val456=)
c.1413_1414delinsTC (p.Val471=)
c.4869_4870delinsTC (p.Val1623=)
c.1193_1194delinsTC
c.1380_1381delinsTC (p.Val460=)
c.*4589_*4590delinsTC (n.*4589_*4590delinsTC)
c.1119_1120delinsTC (p.Val373=)
c.5-7157_5-7156delinsTC (n.5-7157_5-7156delinsTC)
c.279_280delinsTC (p.Val93=)
c.-98-20918_-98-20917delinsTC (n.-98-20918_-98-20917delinsTC)
n.4942_4943delinsTC
n.4983_4984delinsTC
17g.43071108A>CCA500231825BRCA1c.4803T>G (p.Val1601=)
c.4806T>G (p.Val1602=)
c.4680T>G (p.Val1560=)
c.4800T>G (p.Val1600=)
c.4728T>G (p.Val1576=)
c.1494T>G (p.Val498=)
c.1356T>G (p.Val452=)
c.3918T>G (p.Val1306=)
c.4683T>G (p.Val1561=)
c.4872T>G (p.Val1624=)
c.4665T>G (p.Val1555=)
c.1368T>G (p.Val456=)
c.1413T>G (p.Val471=)
c.4869T>G (p.Val1623=)
c.1193T>G
c.1380T>G (p.Val460=)
c.*4589T>G (n.*4589T>G)
c.1119T>G (p.Val373=)
c.5-7157T>G (n.5-7157T>G)
c.279T>G (p.Val93=)
c.-98-20918T>G (n.-98-20918T>G)
n.4942T>G
n.4983T>G
 ClinVar dbSNP
17g.43071108A>GCA500231826BRCA1c.4803T>C (p.Val1601=)
c.4806T>C (p.Val1602=)
c.4680T>C (p.Val1560=)
c.4800T>C (p.Val1600=)
c.4728T>C (p.Val1576=)
c.1494T>C (p.Val498=)
c.1356T>C (p.Val452=)
c.3918T>C (p.Val1306=)
c.4683T>C (p.Val1561=)
c.4872T>C (p.Val1624=)
c.4665T>C (p.Val1555=)
c.1368T>C (p.Val456=)
c.1413T>C (p.Val471=)
c.4869T>C (p.Val1623=)
c.1193T>C
c.1380T>C (p.Val460=)
c.*4589T>C (n.*4589T>C)
c.1119T>C (p.Val373=)
c.5-7157T>C (n.5-7157T>C)
c.279T>C (p.Val93=)
c.-98-20918T>C (n.-98-20918T>C)
n.4942T>C
n.4983T>C
17g.43071108A>TCA500231827BRCA1c.4803T>A (p.Val1601=)
c.4806T>A (p.Val1602=)
c.4680T>A (p.Val1560=)
c.4800T>A (p.Val1600=)
c.4728T>A (p.Val1576=)
c.1494T>A (p.Val498=)
c.1356T>A (p.Val452=)
c.3918T>A (p.Val1306=)
c.4683T>A (p.Val1561=)
c.4872T>A (p.Val1624=)
c.4665T>A (p.Val1555=)
c.1368T>A (p.Val456=)
c.1413T>A (p.Val471=)
c.4869T>A (p.Val1623=)
c.1193T>A
c.1380T>A (p.Val460=)
c.*4589T>A (n.*4589T>A)
c.1119T>A (p.Val373=)
c.5-7157T>A (n.5-7157T>A)
c.279T>A (p.Val93=)
c.-98-20918T>A (n.-98-20918T>A)
n.4942T>A
n.4983T>A
 dbSNP
17g.43071109delCA10586607BRCA1c.4803del (p.Gln1603AsnfsTer2)
c.4806del (p.Gln1604AsnfsTer2)
c.4680del (p.Gln1562AsnfsTer2)
c.4800del (p.Gln1602AsnfsTer2)
c.4728del (p.Gln1578AsnfsTer2)
c.1494del (p.Gln500AsnfsTer2)
c.1356del (p.Gln454AsnfsTer2)
c.3918del (p.Gln1308AsnfsTer2)
c.4683del (p.Gln1563AsnfsTer2)
c.4872del (p.Gln1626AsnfsTer2)
c.4665del (p.Gln1557AsnfsTer2)
c.1368del (p.Gln458AsnfsTer2)
c.1413del (p.Gln473AsnfsTer2)
c.4869del (p.Gln1625AsnfsTer2)
c.1193del
c.1380del (p.Gln462AsnfsTer2)
c.*4589del (n.*4589del)
c.1119del (p.Gln375AsnfsTer2)
c.5-7157del (n.5-7157del)
c.279del (p.Gln95AsnfsTer2)
c.-98-20918del (n.-98-20918del)
n.4942del
n.4983del
 ClinVar dbSNP gnomAD v4
17g.43071109A>CCA10591908BRCA1c.4802T>G (p.Val1601Gly)
c.4805T>G (p.Val1602Gly)
c.4679T>G (p.Val1560Gly)
c.4799T>G (p.Val1600Gly)
c.4727T>G (p.Val1576Gly)
c.1493T>G (p.Val498Gly)
c.1355T>G (p.Val452Gly)
c.3917T>G (p.Val1306Gly)
c.4682T>G (p.Val1561Gly)
c.4871T>G (p.Val1624Gly)
c.4664T>G (p.Val1555Gly)
c.1367T>G (p.Val456Gly)
c.1412T>G (p.Val471Gly)
c.4868T>G (p.Val1623Gly)
c.1192T>G
c.1379T>G (p.Val460Gly)
c.*4588T>G (n.*4588T>G)
c.1118T>G (p.Val373Gly)
c.5-7158T>G (n.5-7158T>G)
c.278T>G (p.Val93Gly)
c.-98-20919T>G (n.-98-20919T>G)
n.4941T>G
n.4982T>G
 dbSNP
17g.43071109A>GCA10591909BRCA1c.4802T>C (p.Val1601Ala)
c.4805T>C (p.Val1602Ala)
c.4679T>C (p.Val1560Ala)
c.4799T>C (p.Val1600Ala)
c.4727T>C (p.Val1576Ala)
c.1493T>C (p.Val498Ala)
c.1355T>C (p.Val452Ala)
c.3917T>C (p.Val1306Ala)
c.4682T>C (p.Val1561Ala)
c.4871T>C (p.Val1624Ala)
c.4664T>C (p.Val1555Ala)
c.1367T>C (p.Val456Ala)
c.1412T>C (p.Val471Ala)
c.4868T>C (p.Val1623Ala)
c.1192T>C
c.1379T>C (p.Val460Ala)
c.*4588T>C (n.*4588T>C)
c.1118T>C (p.Val373Ala)
c.5-7158T>C (n.5-7158T>C)
c.278T>C (p.Val93Ala)
c.-98-20919T>C (n.-98-20919T>C)
n.4941T>C
n.4982T>C
 dbSNP
17g.43071109A>TCA10591910BRCA1c.4802T>A (p.Val1601Asp)
c.4805T>A (p.Val1602Asp)
c.4679T>A (p.Val1560Asp)
c.4799T>A (p.Val1600Asp)
c.4727T>A (p.Val1576Asp)
c.1493T>A (p.Val498Asp)
c.1355T>A (p.Val452Asp)
c.3917T>A (p.Val1306Asp)
c.4682T>A (p.Val1561Asp)
c.4871T>A (p.Val1624Asp)
c.4664T>A (p.Val1555Asp)
c.1367T>A (p.Val456Asp)
c.1412T>A (p.Val471Asp)
c.4868T>A (p.Val1623Asp)
c.1192T>A
c.1379T>A (p.Val460Asp)
c.*4588T>A (n.*4588T>A)
c.1118T>A (p.Val373Asp)
c.5-7158T>A (n.5-7158T>A)
c.278T>A (p.Val93Asp)
c.-98-20919T>A (n.-98-20919T>A)
n.4941T>A
n.4982T>A
 dbSNP
17g.43071110C>ACA10591911BRCA1c.4801G>T (p.Val1601Phe)
c.4804G>T (p.Val1602Phe)
c.4678G>T (p.Val1560Phe)
c.4798G>T (p.Val1600Phe)
c.4726G>T (p.Val1576Phe)
c.1492G>T (p.Val498Phe)
c.1354G>T (p.Val452Phe)
c.3916G>T (p.Val1306Phe)
c.4681G>T (p.Val1561Phe)
c.4870G>T (p.Val1624Phe)
c.4663G>T (p.Val1555Phe)
c.1366G>T (p.Val456Phe)
c.1411G>T (p.Val471Phe)
c.4867G>T (p.Val1623Phe)
c.1191G>T
c.1378G>T (p.Val460Phe)
c.*4587G>T (n.*4587G>T)
c.1117G>T (p.Val373Phe)
c.5-7159G>T (n.5-7159G>T)
c.277G>T (p.Val93Phe)
c.-98-20920G>T (n.-98-20920G>T)
n.4940G>T
n.4981G>T
 ClinVar dbSNP
17g.43071110C=CA2260772924BRCA1c.4801G= (p.Val1601=)
c.4804G= (p.Val1602=)
c.4678G= (p.Val1560=)
c.4798G= (p.Val1600=)
c.4726G= (p.Val1576=)
c.1492G= (p.Val498=)
c.1354G= (p.Val452=)
c.3916G= (p.Val1306=)
c.4681G= (p.Val1561=)
c.4870G= (p.Val1624=)
c.4663G= (p.Val1555=)
c.1366G= (p.Val456=)
c.1411G= (p.Val471=)
c.4867G= (p.Val1623=)
c.1191G=
c.1378G= (p.Val460=)
c.*4587G= (n.*4587G=)
c.1117G= (p.Val373=)
c.5-7159G= (n.5-7159G=)
c.277G= (p.Val93=)
c.-98-20920G= (n.-98-20920G=)
n.4940G=
n.4981G=
17g.43071110C>GCA10591912BRCA1c.4801G>C (p.Val1601Leu)
c.4804G>C (p.Val1602Leu)
c.4678G>C (p.Val1560Leu)
c.4798G>C (p.Val1600Leu)
c.4726G>C (p.Val1576Leu)
c.1492G>C (p.Val498Leu)
c.1354G>C (p.Val452Leu)
c.3916G>C (p.Val1306Leu)
c.4681G>C (p.Val1561Leu)
c.4870G>C (p.Val1624Leu)
c.4663G>C (p.Val1555Leu)
c.1366G>C (p.Val456Leu)
c.1411G>C (p.Val471Leu)
c.4867G>C (p.Val1623Leu)
c.1191G>C
c.1378G>C (p.Val460Leu)
c.*4587G>C (n.*4587G>C)
c.1117G>C (p.Val373Leu)
c.5-7159G>C (n.5-7159G>C)
c.277G>C (p.Val93Leu)
c.-98-20920G>C (n.-98-20920G>C)
n.4940G>C
n.4981G>C
 dbSNP
17g.43071110C>TCA10591913BRCA1c.4801G>A (p.Val1601Ile)
c.4804G>A (p.Val1602Ile)
c.4678G>A (p.Val1560Ile)
c.4798G>A (p.Val1600Ile)
c.4726G>A (p.Val1576Ile)
c.1492G>A (p.Val498Ile)
c.1354G>A (p.Val452Ile)
c.3916G>A (p.Val1306Ile)
c.4681G>A (p.Val1561Ile)
c.4870G>A (p.Val1624Ile)
c.4663G>A (p.Val1555Ile)
c.1366G>A (p.Val456Ile)
c.1411G>A (p.Val471Ile)
c.4867G>A (p.Val1623Ile)
c.1191G>A
c.1378G>A (p.Val460Ile)
c.*4587G>A (n.*4587G>A)
c.1117G>A (p.Val373Ile)
c.5-7159G>A (n.5-7159G>A)
c.277G>A (p.Val93Ile)
c.-98-20920G>A (n.-98-20920G>A)
n.4940G>A
n.4981G>A
 dbSNP
17g.43071110_43071111delinsCTCA2260772923BRCA1c.4800_4801delinsAG (p.Lys1600=)
c.4803_4804delinsAG (p.Lys1601=)
c.4677_4678delinsAG (p.Lys1559=)
c.4797_4798delinsAG (p.Lys1599=)
c.4725_4726delinsAG (p.Lys1575=)
c.1491_1492delinsAG (p.Lys497=)
c.1353_1354delinsAG (p.Lys451=)
c.3915_3916delinsAG (p.Lys1305=)
c.4680_4681delinsAG (p.Lys1560=)
c.4869_4870delinsAG (p.Lys1623=)
c.4662_4663delinsAG (p.Lys1554=)
c.1365_1366delinsAG (p.Lys455=)
c.1410_1411delinsAG (p.Lys470=)
c.4866_4867delinsAG (p.Lys1622=)
c.1190_1191delinsAG
c.1377_1378delinsAG (p.Lys459=)
c.*4586_*4587delinsAG (n.*4586_*4587delinsAG)
c.1116_1117delinsAG (p.Lys372=)
c.5-7160_5-7159delinsAG (n.5-7160_5-7159delinsAG)
c.276_277delinsAG (p.Lys92=)
c.-98-20921_-98-20920delinsAG (n.-98-20921_-98-20920delinsAG)
n.4939_4940delinsAG
n.4980_4981delinsAG
17g.43071111T>ACA10591914BRCA1c.4800A>T (p.Lys1600Asn)
c.4803A>T (p.Lys1601Asn)
c.4677A>T (p.Lys1559Asn)
c.4797A>T (p.Lys1599Asn)
c.4725A>T (p.Lys1575Asn)
c.1491A>T (p.Lys497Asn)
c.1353A>T (p.Lys451Asn)
c.3915A>T (p.Lys1305Asn)
c.4680A>T (p.Lys1560Asn)
c.4869A>T (p.Lys1623Asn)
c.4662A>T (p.Lys1554Asn)
c.1365A>T (p.Lys455Asn)
c.1410A>T (p.Lys470Asn)
c.4866A>T (p.Lys1622Asn)
c.1190A>T
c.1377A>T (p.Lys459Asn)
c.*4586A>T (n.*4586A>T)
c.1116A>T (p.Lys372Asn)
c.5-7160A>T (n.5-7160A>T)
c.276A>T (p.Lys92Asn)
c.-98-20921A>T (n.-98-20921A>T)
n.4939A>T
n.4980A>T
 dbSNP
17g.43071111T>CCA10575939BRCA1c.4800A>G (p.Lys1600=)
c.4803A>G (p.Lys1601=)
c.4677A>G (p.Lys1559=)
c.4797A>G (p.Lys1599=)
c.4725A>G (p.Lys1575=)
c.1491A>G (p.Lys497=)
c.1353A>G (p.Lys451=)
c.3915A>G (p.Lys1305=)
c.4680A>G (p.Lys1560=)
c.4869A>G (p.Lys1623=)
c.4662A>G (p.Lys1554=)
c.1365A>G (p.Lys455=)
c.1410A>G (p.Lys470=)
c.4866A>G (p.Lys1622=)
c.1190A>G
c.1377A>G (p.Lys459=)
c.*4586A>G (n.*4586A>G)
c.1116A>G (p.Lys372=)
c.5-7160A>G (n.5-7160A>G)
c.276A>G (p.Lys92=)
c.-98-20921A>G (n.-98-20921A>G)
n.4939A>G
n.4980A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43071111T>GCA10591915BRCA1c.4800A>C (p.Lys1600Asn)
c.4803A>C (p.Lys1601Asn)
c.4677A>C (p.Lys1559Asn)
c.4797A>C (p.Lys1599Asn)
c.4725A>C (p.Lys1575Asn)
c.1491A>C (p.Lys497Asn)
c.1353A>C (p.Lys451Asn)
c.3915A>C (p.Lys1305Asn)
c.4680A>C (p.Lys1560Asn)
c.4869A>C (p.Lys1623Asn)
c.4662A>C (p.Lys1554Asn)
c.1365A>C (p.Lys455Asn)
c.1410A>C (p.Lys470Asn)
c.4866A>C (p.Lys1622Asn)
c.1190A>C
c.1377A>C (p.Lys459Asn)
c.*4586A>C (n.*4586A>C)
c.1116A>C (p.Lys372Asn)
c.5-7160A>C (n.5-7160A>C)
c.276A>C (p.Lys92Asn)
c.-98-20921A>C (n.-98-20921A>C)
n.4939A>C
n.4980A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43071111T=CA2260772925BRCA1c.4800A= (p.Lys1600=)
c.4803A= (p.Lys1601=)
c.4677A= (p.Lys1559=)
c.4797A= (p.Lys1599=)
c.4725A= (p.Lys1575=)
c.1491A= (p.Lys497=)
c.1353A= (p.Lys451=)
c.3915A= (p.Lys1305=)
c.4680A= (p.Lys1560=)
c.4869A= (p.Lys1623=)
c.4662A= (p.Lys1554=)
c.1365A= (p.Lys455=)
c.1410A= (p.Lys470=)
c.4866A= (p.Lys1622=)
c.1190A=
c.1377A= (p.Lys459=)
c.*4586A= (n.*4586A=)
c.1116A= (p.Lys372=)
c.5-7160A= (n.5-7160A=)
c.276A= (p.Lys92=)
c.-98-20921A= (n.-98-20921A=)
n.4939A=
n.4980A=
17g.43071113delCA658656622BRCA1c.4800del (p.Val1601PhefsTer4)
c.4803del (p.Val1602PhefsTer4)
c.4677del (p.Val1560PhefsTer4)
c.4797del (p.Val1600PhefsTer4)
c.4725del (p.Val1576PhefsTer4)
c.1491del (p.Val498PhefsTer4)
c.1353del (p.Val452PhefsTer4)
c.3915del (p.Val1306PhefsTer4)
c.4680del (p.Val1561PhefsTer4)
c.4869del (p.Val1624PhefsTer4)
c.4662del (p.Val1555PhefsTer4)
c.1365del (p.Val456PhefsTer4)
c.1410del (p.Val471PhefsTer4)
c.4866del (p.Val1623PhefsTer4)
c.1190del
c.1377del (p.Val460PhefsTer4)
c.*4586del (n.*4586del)
c.1116del (p.Val373PhefsTer4)
c.5-7160del (n.5-7160del)
c.276del (p.Val93PhefsTer4)
c.-98-20921del (n.-98-20921del)
n.4939del
n.4980del
 ClinVar dbSNP
17g.43071112T>ACA10591916BRCA1c.4799A>T (p.Lys1600Ile)
c.4802A>T (p.Lys1601Ile)
c.4676A>T (p.Lys1559Ile)
c.4796A>T (p.Lys1599Ile)
c.4724A>T (p.Lys1575Ile)
c.1490A>T (p.Lys497Ile)
c.1352A>T (p.Lys451Ile)
c.3914A>T (p.Lys1305Ile)
c.4679A>T (p.Lys1560Ile)
c.4868A>T (p.Lys1623Ile)
c.4661A>T (p.Lys1554Ile)
c.1364A>T (p.Lys455Ile)
c.1409A>T (p.Lys470Ile)
c.4865A>T (p.Lys1622Ile)
c.1189A>T
c.1376A>T (p.Lys459Ile)
c.*4585A>T (n.*4585A>T)
c.1115A>T (p.Lys372Ile)
c.5-7161A>T (n.5-7161A>T)
c.275A>T (p.Lys92Ile)
c.-98-20922A>T (n.-98-20922A>T)
n.4938A>T
n.4979A>T
 dbSNP
17g.43071112T>CCA10591917BRCA1c.4799A>G (p.Lys1600Arg)
c.4802A>G (p.Lys1601Arg)
c.4676A>G (p.Lys1559Arg)
c.4796A>G (p.Lys1599Arg)
c.4724A>G (p.Lys1575Arg)
c.1490A>G (p.Lys497Arg)
c.1352A>G (p.Lys451Arg)
c.3914A>G (p.Lys1305Arg)
c.4679A>G (p.Lys1560Arg)
c.4868A>G (p.Lys1623Arg)
c.4661A>G (p.Lys1554Arg)
c.1364A>G (p.Lys455Arg)
c.1409A>G (p.Lys470Arg)
c.4865A>G (p.Lys1622Arg)
c.1189A>G
c.1376A>G (p.Lys459Arg)
c.*4585A>G (n.*4585A>G)
c.1115A>G (p.Lys372Arg)
c.5-7161A>G (n.5-7161A>G)
c.275A>G (p.Lys92Arg)
c.-98-20922A>G (n.-98-20922A>G)
n.4938A>G
n.4979A>G
 ClinVar
17g.43071112T>GCA10591918BRCA1c.4799A>C (p.Lys1600Thr)
c.4802A>C (p.Lys1601Thr)
c.4676A>C (p.Lys1559Thr)
c.4796A>C (p.Lys1599Thr)
c.4724A>C (p.Lys1575Thr)
c.1490A>C (p.Lys497Thr)
c.1352A>C (p.Lys451Thr)
c.3914A>C (p.Lys1305Thr)
c.4679A>C (p.Lys1560Thr)
c.4868A>C (p.Lys1623Thr)
c.4661A>C (p.Lys1554Thr)
c.1364A>C (p.Lys455Thr)
c.1409A>C (p.Lys470Thr)
c.4865A>C (p.Lys1622Thr)
c.1189A>C
c.1376A>C (p.Lys459Thr)
c.*4585A>C (n.*4585A>C)
c.1115A>C (p.Lys372Thr)
c.5-7161A>C (n.5-7161A>C)
c.275A>C (p.Lys92Thr)
c.-98-20922A>C (n.-98-20922A>C)
n.4938A>C
n.4979A>C
17g.43071113T>ACA003028BRCA1c.4798A>T (p.Lys1600Ter)
c.4801A>T (p.Lys1601Ter)
c.4675A>T (p.Lys1559Ter)
c.4795A>T (p.Lys1599Ter)
c.4723A>T (p.Lys1575Ter)
c.1489A>T (p.Lys497Ter)
c.1351A>T (p.Lys451Ter)
c.3913A>T (p.Lys1305Ter)
c.4678A>T (p.Lys1560Ter)
c.4867A>T (p.Lys1623Ter)
c.4660A>T (p.Lys1554Ter)
c.1363A>T (p.Lys455Ter)
c.1408A>T (p.Lys470Ter)
c.4864A>T (p.Lys1622Ter)
c.1188A>T
c.1375A>T (p.Lys459Ter)
c.*4584A>T (n.*4584A>T)
c.1114A>T (p.Lys372Ter)
c.5-7162A>T (n.5-7162A>T)
c.274A>T (p.Lys92Ter)
c.-98-20923A>T (n.-98-20923A>T)
n.4937A>T
n.4978A>T
 ClinVar dbSNP
17g.43071113T>CCA10591919BRCA1c.4798A>G (p.Lys1600Glu)
c.4801A>G (p.Lys1601Glu)
c.4675A>G (p.Lys1559Glu)
c.4795A>G (p.Lys1599Glu)
c.4723A>G (p.Lys1575Glu)
c.1489A>G (p.Lys497Glu)
c.1351A>G (p.Lys451Glu)
c.3913A>G (p.Lys1305Glu)
c.4678A>G (p.Lys1560Glu)
c.4867A>G (p.Lys1623Glu)
c.4660A>G (p.Lys1554Glu)
c.1363A>G (p.Lys455Glu)
c.1408A>G (p.Lys470Glu)
c.4864A>G (p.Lys1622Glu)
c.1188A>G
c.1375A>G (p.Lys459Glu)
c.*4584A>G (n.*4584A>G)
c.1114A>G (p.Lys372Glu)
c.5-7162A>G (n.5-7162A>G)
c.274A>G (p.Lys92Glu)
c.-98-20923A>G (n.-98-20923A>G)
n.4937A>G
n.4978A>G
17g.43071113T>GCA053263BRCA1c.4798A>C (p.Lys1600Gln)
c.4801A>C (p.Lys1601Gln)
c.4675A>C (p.Lys1559Gln)
c.4795A>C (p.Lys1599Gln)
c.4723A>C (p.Lys1575Gln)
c.1489A>C (p.Lys497Gln)
c.1351A>C (p.Lys451Gln)
c.3913A>C (p.Lys1305Gln)
c.4678A>C (p.Lys1560Gln)
c.4867A>C (p.Lys1623Gln)
c.4660A>C (p.Lys1554Gln)
c.1363A>C (p.Lys455Gln)
c.1408A>C (p.Lys470Gln)
c.4864A>C (p.Lys1622Gln)
c.1188A>C
c.1375A>C (p.Lys459Gln)
c.*4584A>C (n.*4584A>C)
c.1114A>C (p.Lys372Gln)
c.5-7162A>C (n.5-7162A>C)
c.274A>C (p.Lys92Gln)
c.-98-20923A>C (n.-98-20923A>C)
n.4937A>C
n.4978A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43071113T=CA2260772926BRCA1c.4798A= (p.Lys1600=)
c.4801A= (p.Lys1601=)
c.4675A= (p.Lys1559=)
c.4795A= (p.Lys1599=)
c.4723A= (p.Lys1575=)
c.1489A= (p.Lys497=)
c.1351A= (p.Lys451=)
c.3913A= (p.Lys1305=)
c.4678A= (p.Lys1560=)
c.4867A= (p.Lys1623=)
c.4660A= (p.Lys1554=)
c.1363A= (p.Lys455=)
c.1408A= (p.Lys470=)
c.4864A= (p.Lys1622=)
c.1188A=
c.1375A= (p.Lys459=)
c.*4584A= (n.*4584A=)
c.1114A= (p.Lys372=)
c.5-7162A= (n.5-7162A=)
c.274A= (p.Lys92=)
c.-98-20923A= (n.-98-20923A=)
n.4937A=
n.4978A=
17g.43071113_43071114delinsTCCA2260772927BRCA1c.4797_4798delinsGA (p.Leu1599=)
c.4800_4801delinsGA (p.Leu1600=)
c.4674_4675delinsGA (p.Leu1558=)
c.4794_4795delinsGA (p.Leu1598=)
c.4722_4723delinsGA (p.Leu1574=)
c.1488_1489delinsGA (p.Leu496=)
c.1350_1351delinsGA (p.Leu450=)
c.3912_3913delinsGA (p.Leu1304=)
c.4677_4678delinsGA (p.Leu1559=)
c.4866_4867delinsGA (p.Leu1622=)
c.4659_4660delinsGA (p.Leu1553=)
c.1362_1363delinsGA (p.Leu454=)
c.1407_1408delinsGA (p.Leu469=)
c.4863_4864delinsGA (p.Leu1621=)
c.1187_1188delinsGA
c.1374_1375delinsGA (p.Leu458=)
c.*4583_*4584delinsGA (n.*4583_*4584delinsGA)
c.1113_1114delinsGA (p.Leu371=)
c.5-7163_5-7162delinsGA (n.5-7163_5-7162delinsGA)
c.273_274delinsGA (p.Leu91=)
c.-98-20924_-98-20923delinsGA (n.-98-20924_-98-20923delinsGA)
n.4936_4937delinsGA
n.4977_4978delinsGA
17g.43071114delCA919844205BRCA1c.4797del (p.Val1601PhefsTer4)
c.4800del (p.Val1602PhefsTer4)
c.4674del (p.Val1560PhefsTer4)
c.4794del (p.Val1600PhefsTer4)
c.4722del (p.Val1576PhefsTer4)
c.1488del (p.Val498PhefsTer4)
c.1350del (p.Val452PhefsTer4)
c.3912del (p.Val1306PhefsTer4)
c.4677del (p.Val1561PhefsTer4)
c.4866del (p.Val1624PhefsTer4)
c.4659del (p.Val1555PhefsTer4)
c.1362del (p.Val456PhefsTer4)
c.1407del (p.Val471PhefsTer4)
c.4863del (p.Val1623PhefsTer4)
c.1187del
c.1374del (p.Val460PhefsTer4)
c.*4583del (n.*4583del)
c.1113del (p.Val373PhefsTer4)
c.5-7163del (n.5-7163del)
c.273del (p.Val93PhefsTer4)
c.-98-20924del (n.-98-20924del)
n.4936del
n.4977del
 dbSNP
17g.43071114C>ACA10591920BRCA1c.4797G>T (p.Leu1599Phe)
c.4800G>T (p.Leu1600Phe)
c.4674G>T (p.Leu1558Phe)
c.4794G>T (p.Leu1598Phe)
c.4722G>T (p.Leu1574Phe)
c.1488G>T (p.Leu496Phe)
c.1350G>T (p.Leu450Phe)
c.3912G>T (p.Leu1304Phe)
c.4677G>T (p.Leu1559Phe)
c.4866G>T (p.Leu1622Phe)
c.4659G>T (p.Leu1553Phe)
c.1362G>T (p.Leu454Phe)
c.1407G>T (p.Leu469Phe)
c.4863G>T (p.Leu1621Phe)
c.1187G>T
c.1374G>T (p.Leu458Phe)
c.*4583G>T (n.*4583G>T)
c.1113G>T (p.Leu371Phe)
c.5-7163G>T (n.5-7163G>T)
c.273G>T (p.Leu91Phe)
c.-98-20924G>T (n.-98-20924G>T)
n.4936G>T
n.4977G>T
 dbSNP
17g.43071114C=CA2260772928BRCA1c.4797G= (p.Leu1599=)
c.4800G= (p.Leu1600=)
c.4674G= (p.Leu1558=)
c.4794G= (p.Leu1598=)
c.4722G= (p.Leu1574=)
c.1488G= (p.Leu496=)
c.1350G= (p.Leu450=)
c.3912G= (p.Leu1304=)
c.4677G= (p.Leu1559=)
c.4866G= (p.Leu1622=)
c.4659G= (p.Leu1553=)
c.1362G= (p.Leu454=)
c.1407G= (p.Leu469=)
c.4863G= (p.Leu1621=)
c.1187G=
c.1374G= (p.Leu458=)
c.*4583G= (n.*4583G=)
c.1113G= (p.Leu371=)
c.5-7163G= (n.5-7163G=)
c.273G= (p.Leu91=)
c.-98-20924G= (n.-98-20924G=)
n.4936G=
n.4977G=
17g.43071114C>GCA10591921BRCA1c.4797G>C (p.Leu1599Phe)
c.4800G>C (p.Leu1600Phe)
c.4674G>C (p.Leu1558Phe)
c.4794G>C (p.Leu1598Phe)
c.4722G>C (p.Leu1574Phe)
c.1488G>C (p.Leu496Phe)
c.1350G>C (p.Leu450Phe)
c.3912G>C (p.Leu1304Phe)
c.4677G>C (p.Leu1559Phe)
c.4866G>C (p.Leu1622Phe)
c.4659G>C (p.Leu1553Phe)
c.1362G>C (p.Leu454Phe)
c.1407G>C (p.Leu469Phe)
c.4863G>C (p.Leu1621Phe)
c.1187G>C
c.1374G>C (p.Leu458Phe)
c.*4583G>C (n.*4583G>C)
c.1113G>C (p.Leu371Phe)
c.5-7163G>C (n.5-7163G>C)
c.273G>C (p.Leu91Phe)
c.-98-20924G>C (n.-98-20924G>C)
n.4936G>C
n.4977G>C
 dbSNP
17g.43071114C>TCA500231828BRCA1c.4797G>A (p.Leu1599=)
c.4800G>A (p.Leu1600=)
c.4674G>A (p.Leu1558=)
c.4794G>A (p.Leu1598=)
c.4722G>A (p.Leu1574=)
c.1488G>A (p.Leu496=)
c.1350G>A (p.Leu450=)
c.3912G>A (p.Leu1304=)
c.4677G>A (p.Leu1559=)
c.4866G>A (p.Leu1622=)
c.4659G>A (p.Leu1553=)
c.1362G>A (p.Leu454=)
c.1407G>A (p.Leu469=)
c.4863G>A (p.Leu1621=)
c.1187G>A
c.1374G>A (p.Leu458=)
c.*4583G>A (n.*4583G>A)
c.1113G>A (p.Leu371=)
c.5-7163G>A (n.5-7163G>A)
c.273G>A (p.Leu91=)
c.-98-20924G>A (n.-98-20924G>A)
n.4936G>A
n.4977G>A
 ClinVar dbSNP COSMIC COSMIC
17g.43071115A>CCA10591922BRCA1c.4796T>G (p.Leu1599Trp)
c.4799T>G (p.Leu1600Trp)
c.4673T>G (p.Leu1558Trp)
c.4793T>G (p.Leu1598Trp)
c.4721T>G (p.Leu1574Trp)
c.1487T>G (p.Leu496Trp)
c.1349T>G (p.Leu450Trp)
c.3911T>G (p.Leu1304Trp)
c.4676T>G (p.Leu1559Trp)
c.4865T>G (p.Leu1622Trp)
c.4658T>G (p.Leu1553Trp)
c.1361T>G (p.Leu454Trp)
c.1406T>G (p.Leu469Trp)
c.4862T>G (p.Leu1621Trp)
c.1186T>G
c.1373T>G (p.Leu458Trp)
c.*4582T>G (n.*4582T>G)
c.1112T>G (p.Leu371Trp)
c.5-7164T>G (n.5-7164T>G)
c.272T>G (p.Leu91Trp)
c.-98-20925T>G (n.-98-20925T>G)
n.4935T>G
n.4976T>G
 dbSNP
17g.43071115A>GCA10591923BRCA1c.4796T>C (p.Leu1599Ser)
c.4799T>C (p.Leu1600Ser)
c.4673T>C (p.Leu1558Ser)
c.4793T>C (p.Leu1598Ser)
c.4721T>C (p.Leu1574Ser)
c.1487T>C (p.Leu496Ser)
c.1349T>C (p.Leu450Ser)
c.3911T>C (p.Leu1304Ser)
c.4676T>C (p.Leu1559Ser)
c.4865T>C (p.Leu1622Ser)
c.4658T>C (p.Leu1553Ser)
c.1361T>C (p.Leu454Ser)
c.1406T>C (p.Leu469Ser)
c.4862T>C (p.Leu1621Ser)
c.1186T>C
c.1373T>C (p.Leu458Ser)
c.*4582T>C (n.*4582T>C)
c.1112T>C (p.Leu371Ser)
c.5-7164T>C (n.5-7164T>C)
c.272T>C (p.Leu91Ser)
c.-98-20925T>C (n.-98-20925T>C)
n.4935T>C
n.4976T>C
 dbSNP
17g.43071115A>TCA10591924BRCA1c.4796T>A (p.Leu1599Ter)
c.4799T>A (p.Leu1600Ter)
c.4673T>A (p.Leu1558Ter)
c.4793T>A (p.Leu1598Ter)
c.4721T>A (p.Leu1574Ter)
c.1487T>A (p.Leu496Ter)
c.1349T>A (p.Leu450Ter)
c.3911T>A (p.Leu1304Ter)
c.4676T>A (p.Leu1559Ter)
c.4865T>A (p.Leu1622Ter)
c.4658T>A (p.Leu1553Ter)
c.1361T>A (p.Leu454Ter)
c.1406T>A (p.Leu469Ter)
c.4862T>A (p.Leu1621Ter)
c.1186T>A
c.1373T>A (p.Leu458Ter)
c.*4582T>A (n.*4582T>A)
c.1112T>A (p.Leu371Ter)
c.5-7164T>A (n.5-7164T>A)
c.272T>A (p.Leu91Ter)
c.-98-20925T>A (n.-98-20925T>A)
n.4935T>A
n.4976T>A
 dbSNP
17g.43071116dupCA003027BRCA1c.4796dup (p.Leu1599PhefsTer22)
c.4799dup (p.Leu1600PhefsTer22)
c.4673dup (p.Leu1558PhefsTer22)
c.4793dup (p.Leu1598PhefsTer22)
c.4721dup (p.Leu1574PhefsTer22)
c.1487dup (p.Leu496PhefsTer22)
c.1349dup (p.Leu450PhefsTer22)
c.3911dup (p.Leu1304PhefsTer22)
c.4676dup (p.Leu1559PhefsTer22)
c.4865dup (p.Leu1622PhefsTer22)
c.4658dup (p.Leu1553PhefsTer22)
c.1361dup (p.Leu454PhefsTer22)
c.1406dup (p.Leu469PhefsTer22)
c.4862dup (p.Leu1621PhefsTer22)
c.1186dup
c.1373dup (p.Leu458PhefsTer22)
c.*4582dup (n.*4582dup)
c.1112dup (p.Leu371PhefsTer22)
c.5-7164dup (n.5-7164dup)
c.272dup (p.Leu91PhefsTer22)
c.-98-20925dup (n.-98-20925dup)
n.4935dup
n.4976dup
 ClinVar dbSNP
17g.43071116delCA2499224396BRCA1c.4796del (p.Leu1599Ter)
c.4799del (p.Leu1600Ter)
c.4673del (p.Leu1558Ter)
c.4793del (p.Leu1598Ter)
c.4721del (p.Leu1574Ter)
c.1487del (p.Leu496Ter)
c.1349del (p.Leu450Ter)
c.3911del (p.Leu1304Ter)
c.4676del (p.Leu1559Ter)
c.4865del (p.Leu1622Ter)
c.4658del (p.Leu1553Ter)
c.1361del (p.Leu454Ter)
c.1406del (p.Leu469Ter)
c.4862del (p.Leu1621Ter)
c.1186del
c.1373del (p.Leu458Ter)
c.*4582del (n.*4582del)
c.1112del (p.Leu371Ter)
c.5-7164del (n.5-7164del)
c.272del (p.Leu91Ter)
c.-98-20925del (n.-98-20925del)
n.4935del
n.4976del
 ClinVar dbSNP
17g.43071116A=CA2260772929BRCA1c.4795T= (p.Leu1599=)
c.4798T= (p.Leu1600=)
c.4672T= (p.Leu1558=)
c.4792T= (p.Leu1598=)
c.4720T= (p.Leu1574=)
c.1486T= (p.Leu496=)
c.1348T= (p.Leu450=)
c.3910T= (p.Leu1304=)
c.4675T= (p.Leu1559=)
c.4864T= (p.Leu1622=)
c.4657T= (p.Leu1553=)
c.1360T= (p.Leu454=)
c.1405T= (p.Leu469=)
c.4861T= (p.Leu1621=)
c.1185T=
c.1372T= (p.Leu458=)
c.*4581T= (n.*4581T=)
c.1111T= (p.Leu371=)
c.5-7165T= (n.5-7165T=)
c.271T= (p.Leu91=)
c.-98-20926T= (n.-98-20926T=)
n.4934T=
n.4975T=
17g.43071116A>CCA10591925BRCA1c.4795T>G (p.Leu1599Val)
c.4798T>G (p.Leu1600Val)
c.4672T>G (p.Leu1558Val)
c.4792T>G (p.Leu1598Val)
c.4720T>G (p.Leu1574Val)
c.1486T>G (p.Leu496Val)
c.1348T>G (p.Leu450Val)
c.3910T>G (p.Leu1304Val)
c.4675T>G (p.Leu1559Val)
c.4864T>G (p.Leu1622Val)
c.4657T>G (p.Leu1553Val)
c.1360T>G (p.Leu454Val)
c.1405T>G (p.Leu469Val)
c.4861T>G (p.Leu1621Val)
c.1185T>G
c.1372T>G (p.Leu458Val)
c.*4581T>G (n.*4581T>G)
c.1111T>G (p.Leu371Val)
c.5-7165T>G (n.5-7165T>G)
c.271T>G (p.Leu91Val)
c.-98-20926T>G (n.-98-20926T>G)
n.4934T>G
n.4975T>G
17g.43071116A>GCA053253BRCA1c.4795T>C (p.Leu1599=)
c.4798T>C (p.Leu1600=)
c.4672T>C (p.Leu1558=)
c.4792T>C (p.Leu1598=)
c.4720T>C (p.Leu1574=)
c.1486T>C (p.Leu496=)
c.1348T>C (p.Leu450=)
c.3910T>C (p.Leu1304=)
c.4675T>C (p.Leu1559=)
c.4864T>C (p.Leu1622=)
c.4657T>C (p.Leu1553=)
c.1360T>C (p.Leu454=)
c.1405T>C (p.Leu469=)
c.4861T>C (p.Leu1621=)
c.1185T>C
c.1372T>C (p.Leu458=)
c.*4581T>C (n.*4581T>C)
c.1111T>C (p.Leu371=)
c.5-7165T>C (n.5-7165T>C)
c.271T>C (p.Leu91=)
c.-98-20926T>C (n.-98-20926T>C)
n.4934T>C
n.4975T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43071116A>TCA10591926BRCA1c.4795T>A (p.Leu1599Met)
c.4798T>A (p.Leu1600Met)
c.4672T>A (p.Leu1558Met)
c.4792T>A (p.Leu1598Met)
c.4720T>A (p.Leu1574Met)
c.1486T>A (p.Leu496Met)
c.1348T>A (p.Leu450Met)
c.3910T>A (p.Leu1304Met)
c.4675T>A (p.Leu1559Met)
c.4864T>A (p.Leu1622Met)
c.4657T>A (p.Leu1553Met)
c.1360T>A (p.Leu454Met)
c.1405T>A (p.Leu469Met)
c.4861T>A (p.Leu1621Met)
c.1185T>A
c.1372T>A (p.Leu458Met)
c.*4581T>A (n.*4581T>A)
c.1111T>A (p.Leu371Met)
c.5-7165T>A (n.5-7165T>A)
c.271T>A (p.Leu91Met)
c.-98-20926T>A (n.-98-20926T>A)
n.4934T>A
n.4975T>A
 dbSNP
17g.43071117T>ACA500231829BRCA1c.4794A>T (p.Ala1598=)
c.4797A>T (p.Ala1599=)
c.4671A>T (p.Ala1557=)
c.4791A>T (p.Ala1597=)
c.4719A>T (p.Ala1573=)
c.1485A>T (p.Ala495=)
c.1347A>T (p.Ala449=)
c.3909A>T (p.Ala1303=)
c.4674A>T (p.Ala1558=)
c.4863A>T (p.Ala1621=)
c.4656A>T (p.Ala1552=)
c.1359A>T (p.Ala453=)
c.1404A>T (p.Ala468=)
c.4860A>T (p.Ala1620=)
c.1184A>T
c.1371A>T (p.Ala457=)
c.*4580A>T (n.*4580A>T)
c.1110A>T (p.Ala370=)
c.5-7166A>T (n.5-7166A>T)
c.270A>T (p.Ala90=)
c.-98-20927A>T (n.-98-20927A>T)
n.4933A>T
n.4974A>T
 dbSNP
17g.43071117T>CCA290831752BRCA1c.4794A>G (p.Ala1598=)
c.4797A>G (p.Ala1599=)
c.4671A>G (p.Ala1557=)
c.4791A>G (p.Ala1597=)
c.4719A>G (p.Ala1573=)
c.1485A>G (p.Ala495=)
c.1347A>G (p.Ala449=)
c.3909A>G (p.Ala1303=)
c.4674A>G (p.Ala1558=)
c.4863A>G (p.Ala1621=)
c.4656A>G (p.Ala1552=)
c.1359A>G (p.Ala453=)
c.1404A>G (p.Ala468=)
c.4860A>G (p.Ala1620=)
c.1184A>G
c.1371A>G (p.Ala457=)
c.*4580A>G (n.*4580A>G)
c.1110A>G (p.Ala370=)
c.5-7166A>G (n.5-7166A>G)
c.270A>G (p.Ala90=)
c.-98-20927A>G (n.-98-20927A>G)
n.4933A>G
n.4974A>G
 ClinVar dbSNP gnomAD v4
17g.43071117T>GCA500231830BRCA1c.4794A>C (p.Ala1598=)
c.4797A>C (p.Ala1599=)
c.4671A>C (p.Ala1557=)
c.4791A>C (p.Ala1597=)
c.4719A>C (p.Ala1573=)
c.1485A>C (p.Ala495=)
c.1347A>C (p.Ala449=)
c.3909A>C (p.Ala1303=)
c.4674A>C (p.Ala1558=)
c.4863A>C (p.Ala1621=)
c.4656A>C (p.Ala1552=)
c.1359A>C (p.Ala453=)
c.1404A>C (p.Ala468=)
c.4860A>C (p.Ala1620=)
c.1184A>C
c.1371A>C (p.Ala457=)
c.*4580A>C (n.*4580A>C)
c.1110A>C (p.Ala370=)
c.5-7166A>C (n.5-7166A>C)
c.270A>C (p.Ala90=)
c.-98-20927A>C (n.-98-20927A>C)
n.4933A>C
n.4974A>C
 ClinVar
17g.43071117T=CA2260772930BRCA1c.4794A= (p.Ala1598=)
c.4797A= (p.Ala1599=)
c.4671A= (p.Ala1557=)
c.4791A= (p.Ala1597=)
c.4719A= (p.Ala1573=)
c.1485A= (p.Ala495=)
c.1347A= (p.Ala449=)
c.3909A= (p.Ala1303=)
c.4674A= (p.Ala1558=)
c.4863A= (p.Ala1621=)
c.4656A= (p.Ala1552=)
c.1359A= (p.Ala453=)
c.1404A= (p.Ala468=)
c.4860A= (p.Ala1620=)
c.1184A=
c.1371A= (p.Ala457=)
c.*4580A= (n.*4580A=)
c.1110A= (p.Ala370=)
c.5-7166A= (n.5-7166A=)
c.270A= (p.Ala90=)
c.-98-20927A= (n.-98-20927A=)
n.4933A=
n.4974A=
17g.43071118G>ACA053237BRCA1c.4793C>T (p.Ala1598Val)
c.4796C>T (p.Ala1599Val)
c.4670C>T (p.Ala1557Val)
c.4790C>T (p.Ala1597Val)
c.4718C>T (p.Ala1573Val)
c.1484C>T (p.Ala495Val)
c.1346C>T (p.Ala449Val)
c.3908C>T (p.Ala1303Val)
c.4673C>T (p.Ala1558Val)
c.4862C>T (p.Ala1621Val)
c.4655C>T (p.Ala1552Val)
c.1358C>T (p.Ala453Val)
c.1403C>T (p.Ala468Val)
c.4859C>T (p.Ala1620Val)
c.1183C>T
c.1370C>T (p.Ala457Val)
c.*4579C>T (n.*4579C>T)
c.1109C>T (p.Ala370Val)
c.5-7167C>T (n.5-7167C>T)
c.269C>T (p.Ala90Val)
c.-98-20928C>T (n.-98-20928C>T)
n.4932C>T
n.4973C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43071118G>CCA10591927BRCA1c.4793C>G (p.Ala1598Gly)
c.4796C>G (p.Ala1599Gly)
c.4670C>G (p.Ala1557Gly)
c.4790C>G (p.Ala1597Gly)
c.4718C>G (p.Ala1573Gly)
c.1484C>G (p.Ala495Gly)
c.1346C>G (p.Ala449Gly)
c.3908C>G (p.Ala1303Gly)
c.4673C>G (p.Ala1558Gly)
c.4862C>G (p.Ala1621Gly)
c.4655C>G (p.Ala1552Gly)
c.1358C>G (p.Ala453Gly)
c.1403C>G (p.Ala468Gly)
c.4859C>G (p.Ala1620Gly)
c.1183C>G
c.1370C>G (p.Ala457Gly)
c.*4579C>G (n.*4579C>G)
c.1109C>G (p.Ala370Gly)
c.5-7167C>G (n.5-7167C>G)
c.269C>G (p.Ala90Gly)
c.-98-20928C>G (n.-98-20928C>G)
n.4932C>G
n.4973C>G
 dbSNP
17g.43071118G=CA2260772931BRCA1c.4793C= (p.Ala1598=)
c.4796C= (p.Ala1599=)
c.4670C= (p.Ala1557=)
c.4790C= (p.Ala1597=)
c.4718C= (p.Ala1573=)
c.1484C= (p.Ala495=)
c.1346C= (p.Ala449=)
c.3908C= (p.Ala1303=)
c.4673C= (p.Ala1558=)
c.4862C= (p.Ala1621=)
c.4655C= (p.Ala1552=)
c.1358C= (p.Ala453=)
c.1403C= (p.Ala468=)
c.4859C= (p.Ala1620=)
c.1183C=
c.1370C= (p.Ala457=)
c.*4579C= (n.*4579C=)
c.1109C= (p.Ala370=)
c.5-7167C= (n.5-7167C=)
c.269C= (p.Ala90=)
c.-98-20928C= (n.-98-20928C=)
n.4932C=
n.4973C=
17g.43071118G>TCA10591928BRCA1c.4793C>A (p.Ala1598Glu)
c.4796C>A (p.Ala1599Glu)
c.4670C>A (p.Ala1557Glu)
c.4790C>A (p.Ala1597Glu)
c.4718C>A (p.Ala1573Glu)
c.1484C>A (p.Ala495Glu)
c.1346C>A (p.Ala449Glu)
c.3908C>A (p.Ala1303Glu)
c.4673C>A (p.Ala1558Glu)
c.4862C>A (p.Ala1621Glu)
c.4655C>A (p.Ala1552Glu)
c.1358C>A (p.Ala453Glu)
c.1403C>A (p.Ala468Glu)
c.4859C>A (p.Ala1620Glu)
c.1183C>A
c.1370C>A (p.Ala457Glu)
c.*4579C>A (n.*4579C>A)
c.1109C>A (p.Ala370Glu)
c.5-7167C>A (n.5-7167C>A)
c.269C>A (p.Ala90Glu)
c.-98-20928C>A (n.-98-20928C>A)
n.4932C>A
n.4973C>A
17g.43071119C>ACA10591929BRCA1c.4792G>T (p.Ala1598Ser)
c.4795G>T (p.Ala1599Ser)
c.4669G>T (p.Ala1557Ser)
c.4789G>T (p.Ala1597Ser)
c.4717G>T (p.Ala1573Ser)
c.1483G>T (p.Ala495Ser)
c.1345G>T (p.Ala449Ser)
c.3907G>T (p.Ala1303Ser)
c.4672G>T (p.Ala1558Ser)
c.4861G>T (p.Ala1621Ser)
c.4654G>T (p.Ala1552Ser)
c.1357G>T (p.Ala453Ser)
c.1402G>T (p.Ala468Ser)
c.4858G>T (p.Ala1620Ser)
c.1182G>T
c.1369G>T (p.Ala457Ser)
c.*4578G>T (n.*4578G>T)
c.1108G>T (p.Ala370Ser)
c.5-7168G>T (n.5-7168G>T)
c.268G>T (p.Ala90Ser)
c.-98-20929G>T (n.-98-20929G>T)
n.4931G>T
n.4972G>T
 dbSNP
17g.43071119C=CA2260772932BRCA1c.4792G= (p.Ala1598=)
c.4795G= (p.Ala1599=)
c.4669G= (p.Ala1557=)
c.4789G= (p.Ala1597=)
c.4717G= (p.Ala1573=)
c.1483G= (p.Ala495=)
c.1345G= (p.Ala449=)
c.3907G= (p.Ala1303=)
c.4672G= (p.Ala1558=)
c.4861G= (p.Ala1621=)
c.4654G= (p.Ala1552=)
c.1357G= (p.Ala453=)
c.1402G= (p.Ala468=)
c.4858G= (p.Ala1620=)
c.1182G=
c.1369G= (p.Ala457=)
c.*4578G= (n.*4578G=)
c.1108G= (p.Ala370=)
c.5-7168G= (n.5-7168G=)
c.268G= (p.Ala90=)
c.-98-20929G= (n.-98-20929G=)
n.4931G=
n.4972G=
17g.43071119C>GCA10591930BRCA1c.4792G>C (p.Ala1598Pro)
c.4795G>C (p.Ala1599Pro)
c.4669G>C (p.Ala1557Pro)
c.4789G>C (p.Ala1597Pro)
c.4717G>C (p.Ala1573Pro)
c.1483G>C (p.Ala495Pro)
c.1345G>C (p.Ala449Pro)
c.3907G>C (p.Ala1303Pro)
c.4672G>C (p.Ala1558Pro)
c.4861G>C (p.Ala1621Pro)
c.4654G>C (p.Ala1552Pro)
c.1357G>C (p.Ala453Pro)
c.1402G>C (p.Ala468Pro)
c.4858G>C (p.Ala1620Pro)
c.1182G>C
c.1369G>C (p.Ala457Pro)
c.*4578G>C (n.*4578G>C)
c.1108G>C (p.Ala370Pro)
c.5-7168G>C (n.5-7168G>C)
c.268G>C (p.Ala90Pro)
c.-98-20929G>C (n.-98-20929G>C)
n.4931G>C
n.4972G>C
 dbSNP
17g.43071119C>TCA10591931BRCA1c.4792G>A (p.Ala1598Thr)
c.4795G>A (p.Ala1599Thr)
c.4669G>A (p.Ala1557Thr)
c.4789G>A (p.Ala1597Thr)
c.4717G>A (p.Ala1573Thr)
c.1483G>A (p.Ala495Thr)
c.1345G>A (p.Ala449Thr)
c.3907G>A (p.Ala1303Thr)
c.4672G>A (p.Ala1558Thr)
c.4861G>A (p.Ala1621Thr)
c.4654G>A (p.Ala1552Thr)
c.1357G>A (p.Ala453Thr)
c.1402G>A (p.Ala468Thr)
c.4858G>A (p.Ala1620Thr)
c.1182G>A
c.1369G>A (p.Ala457Thr)
c.*4578G>A (n.*4578G>A)
c.1108G>A (p.Ala370Thr)
c.5-7168G>A (n.5-7168G>A)
c.268G>A (p.Ala90Thr)
c.-98-20929G>A (n.-98-20929G>A)
n.4931G>A
n.4972G>A
 ClinVar dbSNP gnomAD v4
17g.43071120delCA2697559921BRCA1c.4791del (p.Ala1598HisfsTer2)
c.4794del (p.Ala1599HisfsTer2)
c.4668del (p.Ala1557HisfsTer2)
c.4788del (p.Ala1597HisfsTer2)
c.4716del (p.Ala1573HisfsTer2)
c.1482del (p.Ala495HisfsTer2)
c.1344del (p.Ala449HisfsTer2)
c.3906del (p.Ala1303HisfsTer2)
c.4671del (p.Ala1558HisfsTer2)
c.4860del (p.Ala1621HisfsTer2)
c.4653del (p.Ala1552HisfsTer2)
c.1356del (p.Ala453HisfsTer2)
c.1401del (p.Ala468HisfsTer2)
c.4857del (p.Ala1620HisfsTer2)
c.1181del
c.1368del (p.Ala457HisfsTer2)
c.*4577del (n.*4577del)
c.1107del (p.Ala370HisfsTer2)
c.5-7169del (n.5-7169del)
c.267del (p.Ala90HisfsTer2)
c.-98-20930del (n.-98-20930del)
n.4930del
n.4971del
 ClinVar
17g.43071120A=CA2260772933BRCA1c.4791T= (p.Ser1597=)
c.4794T= (p.Ser1598=)
c.4668T= (p.Ser1556=)
c.4788T= (p.Ser1596=)
c.4716T= (p.Ser1572=)
c.1482T= (p.Ser494=)
c.1344T= (p.Ser448=)
c.3906T= (p.Ser1302=)
c.4671T= (p.Ser1557=)
c.4860T= (p.Ser1620=)
c.4653T= (p.Ser1551=)
c.1356T= (p.Ser452=)
c.1401T= (p.Ser467=)
c.4857T= (p.Ser1619=)
c.1181T=
c.1368T= (p.Ser456=)
c.*4577T= (n.*4577T=)
c.1107T= (p.Ser369=)
c.5-7169T= (n.5-7169T=)
c.267T= (p.Ser89=)
c.-98-20930T= (n.-98-20930T=)
n.4930T=
n.4971T=
17g.43071120A>CCA500231831BRCA1c.4791T>G (p.Ser1597=)
c.4794T>G (p.Ser1598=)
c.4668T>G (p.Ser1556=)
c.4788T>G (p.Ser1596=)
c.4716T>G (p.Ser1572=)
c.1482T>G (p.Ser494=)
c.1344T>G (p.Ser448=)
c.3906T>G (p.Ser1302=)
c.4671T>G (p.Ser1557=)
c.4860T>G (p.Ser1620=)
c.4653T>G (p.Ser1551=)
c.1356T>G (p.Ser452=)
c.1401T>G (p.Ser467=)
c.4857T>G (p.Ser1619=)
c.1181T>G
c.1368T>G (p.Ser456=)
c.*4577T>G (n.*4577T>G)
c.1107T>G (p.Ser369=)
c.5-7169T>G (n.5-7169T>G)
c.267T>G (p.Ser89=)
c.-98-20930T>G (n.-98-20930T>G)
n.4930T>G
n.4971T>G
17g.43071120A>GCA500231833BRCA1c.4791T>C (p.Ser1597=)
c.4794T>C (p.Ser1598=)
c.4668T>C (p.Ser1556=)
c.4788T>C (p.Ser1596=)
c.4716T>C (p.Ser1572=)
c.1482T>C (p.Ser494=)
c.1344T>C (p.Ser448=)
c.3906T>C (p.Ser1302=)
c.4671T>C (p.Ser1557=)
c.4860T>C (p.Ser1620=)
c.4653T>C (p.Ser1551=)
c.1356T>C (p.Ser452=)
c.1401T>C (p.Ser467=)
c.4857T>C (p.Ser1619=)
c.1181T>C
c.1368T>C (p.Ser456=)
c.*4577T>C (n.*4577T>C)
c.1107T>C (p.Ser369=)
c.5-7169T>C (n.5-7169T>C)
c.267T>C (p.Ser89=)
c.-98-20930T>C (n.-98-20930T>C)
n.4930T>C
n.4971T>C
 dbSNP
17g.43071120A>TCA500231832BRCA1c.4791T>A (p.Ser1597=)
c.4794T>A (p.Ser1598=)
c.4668T>A (p.Ser1556=)
c.4788T>A (p.Ser1596=)
c.4716T>A (p.Ser1572=)
c.1482T>A (p.Ser494=)
c.1344T>A (p.Ser448=)
c.3906T>A (p.Ser1302=)
c.4671T>A (p.Ser1557=)
c.4860T>A (p.Ser1620=)
c.4653T>A (p.Ser1551=)
c.1356T>A (p.Ser452=)
c.1401T>A (p.Ser467=)
c.4857T>A (p.Ser1619=)
c.1181T>A
c.1368T>A (p.Ser456=)
c.*4577T>A (n.*4577T>A)
c.1107T>A (p.Ser369=)
c.5-7169T>A (n.5-7169T>A)
c.267T>A (p.Ser89=)
c.-98-20930T>A (n.-98-20930T>A)
n.4930T>A
n.4971T>A
 ClinVar dbSNP gnomAD v4
17g.43071121G>ACA10591932BRCA1c.4790C>T (p.Ser1597Phe)
c.4793C>T (p.Ser1598Phe)
c.4667C>T (p.Ser1556Phe)
c.4787C>T (p.Ser1596Phe)
c.4715C>T (p.Ser1572Phe)
c.1481C>T (p.Ser494Phe)
c.1343C>T (p.Ser448Phe)
c.3905C>T (p.Ser1302Phe)
c.4670C>T (p.Ser1557Phe)
c.4859C>T (p.Ser1620Phe)
c.4652C>T (p.Ser1551Phe)
c.1355C>T (p.Ser452Phe)
c.1400C>T (p.Ser467Phe)
c.4856C>T (p.Ser1619Phe)
c.1180C>T
c.1367C>T (p.Ser456Phe)
c.*4576C>T (n.*4576C>T)
c.1106C>T (p.Ser369Phe)
c.5-7170C>T (n.5-7170C>T)
c.266C>T (p.Ser89Phe)
c.-98-20931C>T (n.-98-20931C>T)
n.4929C>T
n.4970C>T
 ClinVar dbSNP gnomAD v4
17g.43071121G>CCA10591933BRCA1c.4790C>G (p.Ser1597Cys)
c.4793C>G (p.Ser1598Cys)
c.4667C>G (p.Ser1556Cys)
c.4787C>G (p.Ser1596Cys)
c.4715C>G (p.Ser1572Cys)
c.1481C>G (p.Ser494Cys)
c.1343C>G (p.Ser448Cys)
c.3905C>G (p.Ser1302Cys)
c.4670C>G (p.Ser1557Cys)
c.4859C>G (p.Ser1620Cys)
c.4652C>G (p.Ser1551Cys)
c.1355C>G (p.Ser452Cys)
c.1400C>G (p.Ser467Cys)
c.4856C>G (p.Ser1619Cys)
c.1180C>G
c.1367C>G (p.Ser456Cys)
c.*4576C>G (n.*4576C>G)
c.1106C>G (p.Ser369Cys)
c.5-7170C>G (n.5-7170C>G)
c.266C>G (p.Ser89Cys)
c.-98-20931C>G (n.-98-20931C>G)
n.4929C>G
n.4970C>G
 dbSNP
17g.43071121G>TCA10591934BRCA1c.4790C>A (p.Ser1597Tyr)
c.4793C>A (p.Ser1598Tyr)
c.4667C>A (p.Ser1556Tyr)
c.4787C>A (p.Ser1596Tyr)
c.4715C>A (p.Ser1572Tyr)
c.1481C>A (p.Ser494Tyr)
c.1343C>A (p.Ser448Tyr)
c.3905C>A (p.Ser1302Tyr)
c.4670C>A (p.Ser1557Tyr)
c.4859C>A (p.Ser1620Tyr)
c.4652C>A (p.Ser1551Tyr)
c.1355C>A (p.Ser452Tyr)
c.1400C>A (p.Ser467Tyr)
c.4856C>A (p.Ser1619Tyr)
c.1180C>A
c.1367C>A (p.Ser456Tyr)
c.*4576C>A (n.*4576C>A)
c.1106C>A (p.Ser369Tyr)
c.5-7170C>A (n.5-7170C>A)
c.266C>A (p.Ser89Tyr)
c.-98-20931C>A (n.-98-20931C>A)
n.4929C>A
n.4970C>A
 dbSNP
17g.43071121_43071134delCA2499224397BRCA1c.4777_4790del (p.Pro1593CysfsTer23)
c.4780_4793del (p.Pro1594CysfsTer23)
c.4654_4667del (p.Pro1552CysfsTer23)
c.4774_4787del (p.Pro1592CysfsTer23)
c.4702_4715del (p.Pro1568CysfsTer23)
c.1468_1481del (p.Pro490CysfsTer23)
c.1330_1343del (p.Pro444CysfsTer23)
c.3892_3905del (p.Pro1298CysfsTer23)
c.4657_4670del (p.Pro1553CysfsTer23)
c.4846_4859del (p.Pro1616CysfsTer23)
c.4639_4652del (p.Pro1547CysfsTer23)
c.1342_1355del (p.Pro448CysfsTer23)
c.1387_1400del (p.Pro463CysfsTer23)
c.4843_4856del (p.Pro1615CysfsTer23)
c.1167_1180del
c.1354_1367del (p.Pro452CysfsTer23)
c.*4563_*4576del (n.*4563_*4576del)
c.1093_1106del (p.Pro365CysfsTer23)
c.5-7183_5-7170del (n.5-7183_5-7170del)
c.253_266del (p.Pro85CysfsTer23)
c.-98-20944_-98-20931del (n.-98-20944_-98-20931del)
n.4916_4929del
n.4957_4970del
17g.43071121_43071134dupCA919844206BRCA1c.4777_4790dup (p.Ala1598HisfsTer7)
c.4780_4793dup (p.Ala1599HisfsTer7)
c.4654_4667dup (p.Ala1557HisfsTer7)
c.4774_4787dup (p.Ala1597HisfsTer7)
c.4702_4715dup (p.Ala1573HisfsTer7)
c.1468_1481dup (p.Ala495HisfsTer7)
c.1330_1343dup (p.Ala449HisfsTer7)
c.3892_3905dup (p.Ala1303HisfsTer7)
c.4657_4670dup (p.Ala1558HisfsTer7)
c.4846_4859dup (p.Ala1621HisfsTer7)
c.4639_4652dup (p.Ala1552HisfsTer7)
c.1342_1355dup (p.Ala453HisfsTer7)
c.1387_1400dup (p.Ala468HisfsTer7)
c.4843_4856dup (p.Ala1620HisfsTer7)
c.1167_1180dup
c.1354_1367dup (p.Ala457HisfsTer7)
c.*4563_*4576dup (n.*4563_*4576dup)
c.1093_1106dup (p.Ala370HisfsTer7)
c.5-7183_5-7170dup (n.5-7183_5-7170dup)
c.253_266dup (p.Ala90HisfsTer7)
c.-98-20944_-98-20931dup (n.-98-20944_-98-20931dup)
n.4916_4929dup
n.4957_4970dup
 dbSNP
17g.43071122A>CCA10591935BRCA1c.4789T>G (p.Ser1597Ala)
c.4792T>G (p.Ser1598Ala)
c.4666T>G (p.Ser1556Ala)
c.4786T>G (p.Ser1596Ala)
c.4714T>G (p.Ser1572Ala)
c.1480T>G (p.Ser494Ala)
c.1342T>G (p.Ser448Ala)
c.3904T>G (p.Ser1302Ala)
c.4669T>G (p.Ser1557Ala)
c.4858T>G (p.Ser1620Ala)
c.4651T>G (p.Ser1551Ala)
c.1354T>G (p.Ser452Ala)
c.1399T>G (p.Ser467Ala)
c.4855T>G (p.Ser1619Ala)
c.1179T>G
c.1366T>G (p.Ser456Ala)
c.*4575T>G (n.*4575T>G)
c.1105T>G (p.Ser369Ala)
c.5-7171T>G (n.5-7171T>G)
c.265T>G (p.Ser89Ala)
c.-98-20932T>G (n.-98-20932T>G)
n.4928T>G
n.4969T>G
17g.43071122A>GCA10591936BRCA1c.4789T>C (p.Ser1597Pro)
c.4792T>C (p.Ser1598Pro)
c.4666T>C (p.Ser1556Pro)
c.4786T>C (p.Ser1596Pro)
c.4714T>C (p.Ser1572Pro)
c.1480T>C (p.Ser494Pro)
c.1342T>C (p.Ser448Pro)
c.3904T>C (p.Ser1302Pro)
c.4669T>C (p.Ser1557Pro)
c.4858T>C (p.Ser1620Pro)
c.4651T>C (p.Ser1551Pro)
c.1354T>C (p.Ser452Pro)
c.1399T>C (p.Ser467Pro)
c.4855T>C (p.Ser1619Pro)
c.1179T>C
c.1366T>C (p.Ser456Pro)
c.*4575T>C (n.*4575T>C)
c.1105T>C (p.Ser369Pro)
c.5-7171T>C (n.5-7171T>C)
c.265T>C (p.Ser89Pro)
c.-98-20932T>C (n.-98-20932T>C)
n.4928T>C
n.4969T>C
 dbSNP
17g.43071122A>TCA10591937BRCA1c.4789T>A (p.Ser1597Thr)
c.4792T>A (p.Ser1598Thr)
c.4666T>A (p.Ser1556Thr)
c.4786T>A (p.Ser1596Thr)
c.4714T>A (p.Ser1572Thr)
c.1480T>A (p.Ser494Thr)
c.1342T>A (p.Ser448Thr)
c.3904T>A (p.Ser1302Thr)
c.4669T>A (p.Ser1557Thr)
c.4858T>A (p.Ser1620Thr)
c.4651T>A (p.Ser1551Thr)
c.1354T>A (p.Ser452Thr)
c.1399T>A (p.Ser467Thr)
c.4855T>A (p.Ser1619Thr)
c.1179T>A
c.1366T>A (p.Ser456Thr)
c.*4575T>A (n.*4575T>A)
c.1105T>A (p.Ser369Thr)
c.5-7171T>A (n.5-7171T>A)
c.265T>A (p.Ser89Thr)
c.-98-20932T>A (n.-98-20932T>A)
n.4928T>A
n.4969T>A
 dbSNP
17g.43071122_43071123delinsAGCA2260772934BRCA1c.4788_4789delinsCT (p.Thr1596=)
c.4791_4792delinsCT (p.Thr1597=)
c.4665_4666delinsCT (p.Thr1555=)
c.4785_4786delinsCT (p.Thr1595=)
c.4713_4714delinsCT (p.Thr1571=)
c.1479_1480delinsCT (p.Thr493=)
c.1341_1342delinsCT (p.Thr447=)
c.3903_3904delinsCT (p.Thr1301=)
c.4668_4669delinsCT (p.Thr1556=)
c.4857_4858delinsCT (p.Thr1619=)
c.4650_4651delinsCT (p.Thr1550=)
c.1353_1354delinsCT (p.Thr451=)
c.1398_1399delinsCT (p.Thr466=)
c.4854_4855delinsCT (p.Thr1618=)
c.1178_1179delinsCT
c.1365_1366delinsCT (p.Thr455=)
c.*4574_*4575delinsCT (n.*4574_*4575delinsCT)
c.1104_1105delinsCT (p.Thr368=)
c.5-7172_5-7171delinsCT (n.5-7172_5-7171delinsCT)
c.264_265delinsCT (p.Thr88=)
c.-98-20933_-98-20932delinsCT (n.-98-20933_-98-20932delinsCT)
n.4927_4928delinsCT
n.4968_4969delinsCT
17g.43071123G>ACA500231834BRCA1c.4788C>T (p.Thr1596=)
c.4791C>T (p.Thr1597=)
c.4665C>T (p.Thr1555=)
c.4785C>T (p.Thr1595=)
c.4713C>T (p.Thr1571=)
c.1479C>T (p.Thr493=)
c.1341C>T (p.Thr447=)
c.3903C>T (p.Thr1301=)
c.4668C>T (p.Thr1556=)
c.4857C>T (p.Thr1619=)
c.4650C>T (p.Thr1550=)
c.1353C>T (p.Thr451=)
c.1398C>T (p.Thr466=)
c.4854C>T (p.Thr1618=)
c.1178C>T
c.1365C>T (p.Thr455=)
c.*4574C>T (n.*4574C>T)
c.1104C>T (p.Thr368=)
c.5-7172C>T (n.5-7172C>T)
c.264C>T (p.Thr88=)
c.-98-20933C>T (n.-98-20933C>T)
n.4927C>T
n.4968C>T
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
17g.43071123G>CCA500231835BRCA1c.4788C>G (p.Thr1596=)
c.4791C>G (p.Thr1597=)
c.4665C>G (p.Thr1555=)
c.4785C>G (p.Thr1595=)
c.4713C>G (p.Thr1571=)
c.1479C>G (p.Thr493=)
c.1341C>G (p.Thr447=)
c.3903C>G (p.Thr1301=)
c.4668C>G (p.Thr1556=)
c.4857C>G (p.Thr1619=)
c.4650C>G (p.Thr1550=)
c.1353C>G (p.Thr451=)
c.1398C>G (p.Thr466=)
c.4854C>G (p.Thr1618=)
c.1178C>G
c.1365C>G (p.Thr455=)
c.*4574C>G (n.*4574C>G)
c.1104C>G (p.Thr368=)
c.5-7172C>G (n.5-7172C>G)
c.264C>G (p.Thr88=)
c.-98-20933C>G (n.-98-20933C>G)
n.4927C>G
n.4968C>G
 ClinVar COSMIC COSMIC
17g.43071123G=CA2260772935BRCA1c.4788C= (p.Thr1596=)
c.4791C= (p.Thr1597=)
c.4665C= (p.Thr1555=)
c.4785C= (p.Thr1595=)
c.4713C= (p.Thr1571=)
c.1479C= (p.Thr493=)
c.1341C= (p.Thr447=)
c.3903C= (p.Thr1301=)
c.4668C= (p.Thr1556=)
c.4857C= (p.Thr1619=)
c.4650C= (p.Thr1550=)
c.1353C= (p.Thr451=)
c.1398C= (p.Thr466=)
c.4854C= (p.Thr1618=)
c.1178C=
c.1365C= (p.Thr455=)
c.*4574C= (n.*4574C=)
c.1104C= (p.Thr368=)
c.5-7172C= (n.5-7172C=)
c.264C= (p.Thr88=)
c.-98-20933C= (n.-98-20933C=)
n.4927C=
n.4968C=
17g.43071123G>TCA500231836BRCA1c.4788C>A (p.Thr1596=)
c.4791C>A (p.Thr1597=)
c.4665C>A (p.Thr1555=)
c.4785C>A (p.Thr1595=)
c.4713C>A (p.Thr1571=)
c.1479C>A (p.Thr493=)
c.1341C>A (p.Thr447=)
c.3903C>A (p.Thr1301=)
c.4668C>A (p.Thr1556=)
c.4857C>A (p.Thr1619=)
c.4650C>A (p.Thr1550=)
c.1353C>A (p.Thr451=)
c.1398C>A (p.Thr466=)
c.4854C>A (p.Thr1618=)
c.1178C>A
c.1365C>A (p.Thr455=)
c.*4574C>A (n.*4574C>A)
c.1104C>A (p.Thr368=)
c.5-7172C>A (n.5-7172C>A)
c.264C>A (p.Thr88=)
c.-98-20933C>A (n.-98-20933C>A)
n.4927C>A
n.4968C>A
 ClinVar
17g.43071124delCA1139665580BRCA1c.4788del (p.Ser1597LeufsTer3)
c.4791del (p.Ser1598LeufsTer3)
c.4665del (p.Ser1556LeufsTer3)
c.4785del (p.Ser1596LeufsTer3)
c.4713del (p.Ser1572LeufsTer3)
c.1479del (p.Ser494LeufsTer3)
c.1341del (p.Ser448LeufsTer3)
c.3903del (p.Ser1302LeufsTer3)
c.4668del (p.Ser1557LeufsTer3)
c.4857del (p.Ser1620LeufsTer3)
c.4650del (p.Ser1551LeufsTer3)
c.1353del (p.Ser452LeufsTer3)
c.1398del (p.Ser467LeufsTer3)
c.4854del (p.Ser1619LeufsTer3)
c.1178del
c.1365del (p.Ser456LeufsTer3)
c.*4574del (n.*4574del)
c.1104del (p.Ser369LeufsTer3)
c.5-7172del (n.5-7172del)
c.264del (p.Ser89LeufsTer3)
c.-98-20933del (n.-98-20933del)
n.4927del
n.4968del
 ClinVar dbSNP
17g.43071124G>ACA053224BRCA1c.4787C>T (p.Thr1596Ile)
c.4790C>T (p.Thr1597Ile)
c.4664C>T (p.Thr1555Ile)
c.4784C>T (p.Thr1595Ile)
c.4712C>T (p.Thr1571Ile)
c.1478C>T (p.Thr493Ile)
c.1340C>T (p.Thr447Ile)
c.3902C>T (p.Thr1301Ile)
c.4667C>T (p.Thr1556Ile)
c.4856C>T (p.Thr1619Ile)
c.4649C>T (p.Thr1550Ile)
c.1352C>T (p.Thr451Ile)
c.1397C>T (p.Thr466Ile)
c.4853C>T (p.Thr1618Ile)
c.1177C>T
c.1364C>T (p.Thr455Ile)
c.*4573C>T (n.*4573C>T)
c.1103C>T (p.Thr368Ile)
c.5-7173C>T (n.5-7173C>T)
c.263C>T (p.Thr88Ile)
c.-98-20934C>T (n.-98-20934C>T)
n.4926C>T
n.4967C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43071124G>CCA10591938BRCA1c.4787C>G (p.Thr1596Ser)
c.4790C>G (p.Thr1597Ser)
c.4664C>G (p.Thr1555Ser)
c.4784C>G (p.Thr1595Ser)
c.4712C>G (p.Thr1571Ser)
c.1478C>G (p.Thr493Ser)
c.1340C>G (p.Thr447Ser)
c.3902C>G (p.Thr1301Ser)
c.4667C>G (p.Thr1556Ser)
c.4856C>G (p.Thr1619Ser)
c.4649C>G (p.Thr1550Ser)
c.1352C>G (p.Thr451Ser)
c.1397C>G (p.Thr466Ser)
c.4853C>G (p.Thr1618Ser)
c.1177C>G
c.1364C>G (p.Thr455Ser)
c.*4573C>G (n.*4573C>G)
c.1103C>G (p.Thr368Ser)
c.5-7173C>G (n.5-7173C>G)
c.263C>G (p.Thr88Ser)
c.-98-20934C>G (n.-98-20934C>G)
n.4926C>G
n.4967C>G
 ClinVar dbSNP
17g.43071124G=CA2260772936BRCA1c.4787C= (p.Thr1596=)
c.4790C= (p.Thr1597=)
c.4664C= (p.Thr1555=)
c.4784C= (p.Thr1595=)
c.4712C= (p.Thr1571=)
c.1478C= (p.Thr493=)
c.1340C= (p.Thr447=)
c.3902C= (p.Thr1301=)
c.4667C= (p.Thr1556=)
c.4856C= (p.Thr1619=)
c.4649C= (p.Thr1550=)
c.1352C= (p.Thr451=)
c.1397C= (p.Thr466=)
c.4853C= (p.Thr1618=)
c.1177C=
c.1364C= (p.Thr455=)
c.*4573C= (n.*4573C=)
c.1103C= (p.Thr368=)
c.5-7173C= (n.5-7173C=)
c.263C= (p.Thr88=)
c.-98-20934C= (n.-98-20934C=)
n.4926C=
n.4967C=
17g.43071124G>TCA003024BRCA1c.4787C>A (p.Thr1596Asn)
c.4790C>A (p.Thr1597Asn)
c.4664C>A (p.Thr1555Asn)
c.4784C>A (p.Thr1595Asn)
c.4712C>A (p.Thr1571Asn)
c.1478C>A (p.Thr493Asn)
c.1340C>A (p.Thr447Asn)
c.3902C>A (p.Thr1301Asn)
c.4667C>A (p.Thr1556Asn)
c.4856C>A (p.Thr1619Asn)
c.4649C>A (p.Thr1550Asn)
c.1352C>A (p.Thr451Asn)
c.1397C>A (p.Thr466Asn)
c.4853C>A (p.Thr1618Asn)
c.1177C>A
c.1364C>A (p.Thr455Asn)
c.*4573C>A (n.*4573C>A)
c.1103C>A (p.Thr368Asn)
c.5-7173C>A (n.5-7173C>A)
c.263C>A (p.Thr88Asn)
c.-98-20934C>A (n.-98-20934C>A)
n.4926C>A
n.4967C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43071125_43071130delCA645578304BRCA1c.4782_4787del (p.Ser1595_Thr1596del)
c.4785_4790del (p.Ser1596_Thr1597del)
c.4659_4664del (p.Ser1554_Thr1555del)
c.4779_4784del (p.Ser1594_Thr1595del)
c.4707_4712del (p.Ser1570_Thr1571del)
c.1473_1478del (p.Ser492_Thr493del)
c.1335_1340del (p.Ser446_Thr447del)
c.3897_3902del (p.Ser1300_Thr1301del)
c.4662_4667del (p.Ser1555_Thr1556del)
c.4851_4856del (p.Ser1618_Thr1619del)
c.4644_4649del (p.Ser1549_Thr1550del)
c.1347_1352del (p.Ser450_Thr451del)
c.1392_1397del (p.Ser465_Thr466del)
c.4848_4853del (p.Ser1617_Thr1618del)
c.1172_1177del
c.1359_1364del (p.Ser454_Thr455del)
c.*4568_*4573del (n.*4568_*4573del)
c.1098_1103del (p.Ser367_Thr368del)
c.5-7178_5-7173del (n.5-7178_5-7173del)
c.258_263del (p.Ser87_Thr88del)
c.-98-20939_-98-20934del (n.-98-20939_-98-20934del)
n.4921_4926del
n.4962_4967del
 COSMIC COSMIC
17g.43071125T>ACA10591939BRCA1c.4786A>T (p.Thr1596Ser)
c.4789A>T (p.Thr1597Ser)
c.4663A>T (p.Thr1555Ser)
c.4783A>T (p.Thr1595Ser)
c.4711A>T (p.Thr1571Ser)
c.1477A>T (p.Thr493Ser)
c.1339A>T (p.Thr447Ser)
c.3901A>T (p.Thr1301Ser)
c.4666A>T (p.Thr1556Ser)
c.4855A>T (p.Thr1619Ser)
c.4648A>T (p.Thr1550Ser)
c.1351A>T (p.Thr451Ser)
c.1396A>T (p.Thr466Ser)
c.4852A>T (p.Thr1618Ser)
c.1176A>T
c.1363A>T (p.Thr455Ser)
c.*4572A>T (n.*4572A>T)
c.1102A>T (p.Thr368Ser)
c.5-7174A>T (n.5-7174A>T)
c.262A>T (p.Thr88Ser)
c.-98-20935A>T (n.-98-20935A>T)
n.4925A>T
n.4966A>T
 dbSNP
17g.43071125T>CCA003023BRCA1c.4786A>G (p.Thr1596Ala)
c.4789A>G (p.Thr1597Ala)
c.4663A>G (p.Thr1555Ala)
c.4783A>G (p.Thr1595Ala)
c.4711A>G (p.Thr1571Ala)
c.1477A>G (p.Thr493Ala)
c.1339A>G (p.Thr447Ala)
c.3901A>G (p.Thr1301Ala)
c.4666A>G (p.Thr1556Ala)
c.4855A>G (p.Thr1619Ala)
c.4648A>G (p.Thr1550Ala)
c.1351A>G (p.Thr451Ala)
c.1396A>G (p.Thr466Ala)
c.4852A>G (p.Thr1618Ala)
c.1176A>G
c.1363A>G (p.Thr455Ala)
c.*4572A>G (n.*4572A>G)
c.1102A>G (p.Thr368Ala)
c.5-7174A>G (n.5-7174A>G)
c.262A>G (p.Thr88Ala)
c.-98-20935A>G (n.-98-20935A>G)
n.4925A>G
n.4966A>G
 ClinVar dbSNP gnomAD v4
17g.43071125T>GCA10591940BRCA1c.4786A>C (p.Thr1596Pro)
c.4789A>C (p.Thr1597Pro)
c.4663A>C (p.Thr1555Pro)
c.4783A>C (p.Thr1595Pro)
c.4711A>C (p.Thr1571Pro)
c.1477A>C (p.Thr493Pro)
c.1339A>C (p.Thr447Pro)
c.3901A>C (p.Thr1301Pro)
c.4666A>C (p.Thr1556Pro)
c.4855A>C (p.Thr1619Pro)
c.4648A>C (p.Thr1550Pro)
c.1351A>C (p.Thr451Pro)
c.1396A>C (p.Thr466Pro)
c.4852A>C (p.Thr1618Pro)
c.1176A>C
c.1363A>C (p.Thr455Pro)
c.*4572A>C (n.*4572A>C)
c.1102A>C (p.Thr368Pro)
c.5-7174A>C (n.5-7174A>C)
c.262A>C (p.Thr88Pro)
c.-98-20935A>C (n.-98-20935A>C)
n.4925A>C
n.4966A>C
 dbSNP
17g.43071125T=CA2260772937BRCA1c.4786A= (p.Thr1596=)
c.4789A= (p.Thr1597=)
c.4663A= (p.Thr1555=)
c.4783A= (p.Thr1595=)
c.4711A= (p.Thr1571=)
c.1477A= (p.Thr493=)
c.1339A= (p.Thr447=)
c.3901A= (p.Thr1301=)
c.4666A= (p.Thr1556=)
c.4855A= (p.Thr1619=)
c.4648A= (p.Thr1550=)
c.1351A= (p.Thr451=)
c.1396A= (p.Thr466=)
c.4852A= (p.Thr1618=)
c.1176A=
c.1363A= (p.Thr455=)
c.*4572A= (n.*4572A=)
c.1102A= (p.Thr368=)
c.5-7174A= (n.5-7174A=)
c.262A= (p.Thr88=)
c.-98-20935A= (n.-98-20935A=)
n.4925A=
n.4966A=
17g.43071126T>ACA500231837BRCA1c.4785A>T (p.Ser1595=)
c.4788A>T (p.Ser1596=)
c.4662A>T (p.Ser1554=)
c.4782A>T (p.Ser1594=)
c.4710A>T (p.Ser1570=)
c.1476A>T (p.Ser492=)
c.1338A>T (p.Ser446=)
c.3900A>T (p.Ser1300=)
c.4665A>T (p.Ser1555=)
c.4854A>T (p.Ser1618=)
c.4647A>T (p.Ser1549=)
c.1350A>T (p.Ser450=)
c.1395A>T (p.Ser465=)
c.4851A>T (p.Ser1617=)
c.1175A>T
c.1362A>T (p.Ser454=)
c.*4571A>T (n.*4571A>T)
c.1101A>T (p.Ser367=)
c.5-7175A>T (n.5-7175A>T)
c.261A>T (p.Ser87=)
c.-98-20936A>T (n.-98-20936A>T)
n.4924A>T
n.4965A>T
 dbSNP
17g.43071126T>CCA500231838BRCA1c.4785A>G (p.Ser1595=)
c.4788A>G (p.Ser1596=)
c.4662A>G (p.Ser1554=)
c.4782A>G (p.Ser1594=)
c.4710A>G (p.Ser1570=)
c.1476A>G (p.Ser492=)
c.1338A>G (p.Ser446=)
c.3900A>G (p.Ser1300=)
c.4665A>G (p.Ser1555=)
c.4854A>G (p.Ser1618=)
c.4647A>G (p.Ser1549=)
c.1350A>G (p.Ser450=)
c.1395A>G (p.Ser465=)
c.4851A>G (p.Ser1617=)
c.1175A>G
c.1362A>G (p.Ser454=)
c.*4571A>G (n.*4571A>G)
c.1101A>G (p.Ser367=)
c.5-7175A>G (n.5-7175A>G)
c.261A>G (p.Ser87=)
c.-98-20936A>G (n.-98-20936A>G)
n.4924A>G
n.4965A>G
 gnomAD v4
17g.43071126T>GCA500231839BRCA1c.4785A>C (p.Ser1595=)
c.4788A>C (p.Ser1596=)
c.4662A>C (p.Ser1554=)
c.4782A>C (p.Ser1594=)
c.4710A>C (p.Ser1570=)
c.1476A>C (p.Ser492=)
c.1338A>C (p.Ser446=)
c.3900A>C (p.Ser1300=)
c.4665A>C (p.Ser1555=)
c.4854A>C (p.Ser1618=)
c.4647A>C (p.Ser1549=)
c.1350A>C (p.Ser450=)
c.1395A>C (p.Ser465=)
c.4851A>C (p.Ser1617=)
c.1175A>C
c.1362A>C (p.Ser454=)
c.*4571A>C (n.*4571A>C)
c.1101A>C (p.Ser367=)
c.5-7175A>C (n.5-7175A>C)
c.261A>C (p.Ser87=)
c.-98-20936A>C (n.-98-20936A>C)
n.4924A>C
n.4965A>C
 ClinVar
17g.43071127G>ACA003022BRCA1c.4784C>T (p.Ser1595Leu)
c.4787C>T (p.Ser1596Leu)
c.4661C>T (p.Ser1554Leu)
c.4781C>T (p.Ser1594Leu)
c.4709C>T (p.Ser1570Leu)
c.1475C>T (p.Ser492Leu)
c.1337C>T (p.Ser446Leu)
c.3899C>T (p.Ser1300Leu)
c.4664C>T (p.Ser1555Leu)
c.4853C>T (p.Ser1618Leu)
c.4646C>T (p.Ser1549Leu)
c.1349C>T (p.Ser450Leu)
c.1394C>T (p.Ser465Leu)
c.4850C>T (p.Ser1617Leu)
c.1174C>T
c.1361C>T (p.Ser454Leu)
c.*4570C>T (n.*4570C>T)
c.1100C>T (p.Ser367Leu)
c.5-7176C>T (n.5-7176C>T)
c.260C>T (p.Ser87Leu)
c.-98-20937C>T (n.-98-20937C>T)
n.4923C>T
n.4964C>T
 ClinVar dbSNP
17g.43071127G>CCA10591941BRCA1c.4784C>G (p.Ser1595Ter)
c.4787C>G (p.Ser1596Ter)
c.4661C>G (p.Ser1554Ter)
c.4781C>G (p.Ser1594Ter)
c.4709C>G (p.Ser1570Ter)
c.1475C>G (p.Ser492Ter)
c.1337C>G (p.Ser446Ter)
c.3899C>G (p.Ser1300Ter)
c.4664C>G (p.Ser1555Ter)
c.4853C>G (p.Ser1618Ter)
c.4646C>G (p.Ser1549Ter)
c.1349C>G (p.Ser450Ter)
c.1394C>G (p.Ser465Ter)
c.4850C>G (p.Ser1617Ter)
c.1174C>G
c.1361C>G (p.Ser454Ter)
c.*4570C>G (n.*4570C>G)
c.1100C>G (p.Ser367Ter)
c.5-7176C>G (n.5-7176C>G)
c.260C>G (p.Ser87Ter)
c.-98-20937C>G (n.-98-20937C>G)
n.4923C>G
n.4964C>G
 dbSNP
17g.43071127G=CA2260772938BRCA1c.4784C= (p.Ser1595=)
c.4787C= (p.Ser1596=)
c.4661C= (p.Ser1554=)
c.4781C= (p.Ser1594=)
c.4709C= (p.Ser1570=)
c.1475C= (p.Ser492=)
c.1337C= (p.Ser446=)
c.3899C= (p.Ser1300=)
c.4664C= (p.Ser1555=)
c.4853C= (p.Ser1618=)
c.4646C= (p.Ser1549=)
c.1349C= (p.Ser450=)
c.1394C= (p.Ser465=)
c.4850C= (p.Ser1617=)
c.1174C=
c.1361C= (p.Ser454=)
c.*4570C= (n.*4570C=)
c.1100C= (p.Ser367=)
c.5-7176C= (n.5-7176C=)
c.260C= (p.Ser87=)
c.-98-20937C= (n.-98-20937C=)
n.4923C=
n.4964C=
17g.43071127G>TCA10591942BRCA1c.4784C>A (p.Ser1595Ter)
c.4787C>A (p.Ser1596Ter)
c.4661C>A (p.Ser1554Ter)
c.4781C>A (p.Ser1594Ter)
c.4709C>A (p.Ser1570Ter)
c.1475C>A (p.Ser492Ter)
c.1337C>A (p.Ser446Ter)
c.3899C>A (p.Ser1300Ter)
c.4664C>A (p.Ser1555Ter)
c.4853C>A (p.Ser1618Ter)
c.4646C>A (p.Ser1549Ter)
c.1349C>A (p.Ser450Ter)
c.1394C>A (p.Ser465Ter)
c.4850C>A (p.Ser1617Ter)
c.1174C>A
c.1361C>A (p.Ser454Ter)
c.*4570C>A (n.*4570C>A)
c.1100C>A (p.Ser367Ter)
c.5-7176C>A (n.5-7176C>A)
c.260C>A (p.Ser87Ter)
c.-98-20937C>A (n.-98-20937C>A)
n.4923C>A
n.4964C>A
 ClinVar dbSNP COSMIC COSMIC
17g.43071128A=CA2260772939BRCA1c.4783T= (p.Ser1595=)
c.4786T= (p.Ser1596=)
c.4660T= (p.Ser1554=)
c.4780T= (p.Ser1594=)
c.4708T= (p.Ser1570=)
c.1474T= (p.Ser492=)
c.1336T= (p.Ser446=)
c.3898T= (p.Ser1300=)
c.4663T= (p.Ser1555=)
c.4852T= (p.Ser1618=)
c.4645T= (p.Ser1549=)
c.1348T= (p.Ser450=)
c.1393T= (p.Ser465=)
c.4849T= (p.Ser1617=)
c.1173T=
c.1360T= (p.Ser454=)
c.*4569T= (n.*4569T=)
c.1099T= (p.Ser367=)
c.5-7177T= (n.5-7177T=)
c.259T= (p.Ser87=)
c.-98-20938T= (n.-98-20938T=)
n.4922T=
n.4963T=
17g.43071128A>CCA10591943BRCA1c.4783T>G (p.Ser1595Ala)
c.4786T>G (p.Ser1596Ala)
c.4660T>G (p.Ser1554Ala)
c.4780T>G (p.Ser1594Ala)
c.4708T>G (p.Ser1570Ala)
c.1474T>G (p.Ser492Ala)
c.1336T>G (p.Ser446Ala)
c.3898T>G (p.Ser1300Ala)
c.4663T>G (p.Ser1555Ala)
c.4852T>G (p.Ser1618Ala)
c.4645T>G (p.Ser1549Ala)
c.1348T>G (p.Ser450Ala)
c.1393T>G (p.Ser465Ala)
c.4849T>G (p.Ser1617Ala)
c.1173T>G
c.1360T>G (p.Ser454Ala)
c.*4569T>G (n.*4569T>G)
c.1099T>G (p.Ser367Ala)
c.5-7177T>G (n.5-7177T>G)
c.259T>G (p.Ser87Ala)
c.-98-20938T>G (n.-98-20938T>G)
n.4922T>G
n.4963T>G
 ClinVar dbSNP
17g.43071128A>GCA10591944BRCA1c.4783T>C (p.Ser1595Pro)
c.4786T>C (p.Ser1596Pro)
c.4660T>C (p.Ser1554Pro)
c.4780T>C (p.Ser1594Pro)
c.4708T>C (p.Ser1570Pro)
c.1474T>C (p.Ser492Pro)
c.1336T>C (p.Ser446Pro)
c.3898T>C (p.Ser1300Pro)
c.4663T>C (p.Ser1555Pro)
c.4852T>C (p.Ser1618Pro)
c.4645T>C (p.Ser1549Pro)
c.1348T>C (p.Ser450Pro)
c.1393T>C (p.Ser465Pro)
c.4849T>C (p.Ser1617Pro)
c.1173T>C
c.1360T>C (p.Ser454Pro)
c.*4569T>C (n.*4569T>C)
c.1099T>C (p.Ser367Pro)
c.5-7177T>C (n.5-7177T>C)
c.259T>C (p.Ser87Pro)
c.-98-20938T>C (n.-98-20938T>C)
n.4922T>C
n.4963T>C
 dbSNP
17g.43071128A>TCA10591945BRCA1c.4783T>A (p.Ser1595Thr)
c.4786T>A (p.Ser1596Thr)
c.4660T>A (p.Ser1554Thr)
c.4780T>A (p.Ser1594Thr)
c.4708T>A (p.Ser1570Thr)
c.1474T>A (p.Ser492Thr)
c.1336T>A (p.Ser446Thr)
c.3898T>A (p.Ser1300Thr)
c.4663T>A (p.Ser1555Thr)
c.4852T>A (p.Ser1618Thr)
c.4645T>A (p.Ser1549Thr)
c.1348T>A (p.Ser450Thr)
c.1393T>A (p.Ser465Thr)
c.4849T>A (p.Ser1617Thr)
c.1173T>A
c.1360T>A (p.Ser454Thr)
c.*4569T>A (n.*4569T>A)
c.1099T>A (p.Ser367Thr)
c.5-7177T>A (n.5-7177T>A)
c.259T>A (p.Ser87Thr)
c.-98-20938T>A (n.-98-20938T>A)
n.4922T>A
n.4963T>A
 dbSNP
17g.43071129A>CCA500231840BRCA1c.4782T>G (p.Ser1594=)
c.4785T>G (p.Ser1595=)
c.4659T>G (p.Ser1553=)
c.4779T>G (p.Ser1593=)
c.4707T>G (p.Ser1569=)
c.1473T>G (p.Ser491=)
c.1335T>G (p.Ser445=)
c.3897T>G (p.Ser1299=)
c.4662T>G (p.Ser1554=)
c.4851T>G (p.Ser1617=)
c.4644T>G (p.Ser1548=)
c.1347T>G (p.Ser449=)
c.1392T>G (p.Ser464=)
c.4848T>G (p.Ser1616=)
c.1172T>G
c.1359T>G (p.Ser453=)
c.*4568T>G (n.*4568T>G)
c.1098T>G (p.Ser366=)
c.5-7178T>G (n.5-7178T>G)
c.258T>G (p.Ser86=)
c.-98-20939T>G (n.-98-20939T>G)
n.4921T>G
n.4962T>G
17g.43071129A>GCA500231841BRCA1c.4782T>C (p.Ser1594=)
c.4785T>C (p.Ser1595=)
c.4659T>C (p.Ser1553=)
c.4779T>C (p.Ser1593=)
c.4707T>C (p.Ser1569=)
c.1473T>C (p.Ser491=)
c.1335T>C (p.Ser445=)
c.3897T>C (p.Ser1299=)
c.4662T>C (p.Ser1554=)
c.4851T>C (p.Ser1617=)
c.4644T>C (p.Ser1548=)
c.1347T>C (p.Ser449=)
c.1392T>C (p.Ser464=)
c.4848T>C (p.Ser1616=)
c.1172T>C
c.1359T>C (p.Ser453=)
c.*4568T>C (n.*4568T>C)
c.1098T>C (p.Ser366=)
c.5-7178T>C (n.5-7178T>C)
c.258T>C (p.Ser86=)
c.-98-20939T>C (n.-98-20939T>C)
n.4921T>C
n.4962T>C
17g.43071129A>TCA500231842BRCA1c.4782T>A (p.Ser1594=)
c.4785T>A (p.Ser1595=)
c.4659T>A (p.Ser1553=)
c.4779T>A (p.Ser1593=)
c.4707T>A (p.Ser1569=)
c.1473T>A (p.Ser491=)
c.1335T>A (p.Ser445=)
c.3897T>A (p.Ser1299=)
c.4662T>A (p.Ser1554=)
c.4851T>A (p.Ser1617=)
c.4644T>A (p.Ser1548=)
c.1347T>A (p.Ser449=)
c.1392T>A (p.Ser464=)
c.4848T>A (p.Ser1616=)
c.1172T>A
c.1359T>A (p.Ser453=)
c.*4568T>A (n.*4568T>A)
c.1098T>A (p.Ser366=)
c.5-7178T>A (n.5-7178T>A)
c.258T>A (p.Ser86=)
c.-98-20939T>A (n.-98-20939T>A)
n.4921T>A
n.4962T>A
 dbSNP
17g.43071129_43071130delinsAGCA2260772940BRCA1c.4781_4782delinsCT (p.Ser1594=)
c.4784_4785delinsCT (p.Ser1595=)
c.4658_4659delinsCT (p.Ser1553=)
c.4778_4779delinsCT (p.Ser1593=)
c.4706_4707delinsCT (p.Ser1569=)
c.1472_1473delinsCT (p.Ser491=)
c.1334_1335delinsCT (p.Ser445=)
c.3896_3897delinsCT (p.Ser1299=)
c.4661_4662delinsCT (p.Ser1554=)
c.4850_4851delinsCT (p.Ser1617=)
c.4643_4644delinsCT (p.Ser1548=)
c.1346_1347delinsCT (p.Ser449=)
c.1391_1392delinsCT (p.Ser464=)
c.4847_4848delinsCT (p.Ser1616=)
c.1171_1172delinsCT
c.1358_1359delinsCT (p.Ser453=)
c.*4567_*4568delinsCT (n.*4567_*4568delinsCT)
c.1097_1098delinsCT (p.Ser366=)
c.5-7179_5-7178delinsCT (n.5-7179_5-7178delinsCT)
c.257_258delinsCT (p.Ser86=)
c.-98-20940_-98-20939delinsCT (n.-98-20940_-98-20939delinsCT)
n.4920_4921delinsCT
n.4961_4962delinsCT
17g.43071130delCA10589644BRCA1c.4781del (p.Ser1594PhefsTer6)
c.4784del (p.Ser1595PhefsTer6)
c.4658del (p.Ser1553PhefsTer6)
c.4778del (p.Ser1593PhefsTer6)
c.4706del (p.Ser1569PhefsTer6)
c.1472del (p.Ser491PhefsTer6)
c.1334del (p.Ser445PhefsTer6)
c.3896del (p.Ser1299PhefsTer6)
c.4661del (p.Ser1554PhefsTer6)
c.4850del (p.Ser1617PhefsTer6)
c.4643del (p.Ser1548PhefsTer6)
c.1346del (p.Ser449PhefsTer6)
c.1391del (p.Ser464PhefsTer6)
c.4847del (p.Ser1616PhefsTer6)
c.1171del
c.1358del (p.Ser453PhefsTer6)
c.*4567del (n.*4567del)
c.1097del (p.Ser366PhefsTer6)
c.5-7179del (n.5-7179del)
c.257del (p.Ser86PhefsTer6)
c.-98-20940del (n.-98-20940del)
n.4920del
n.4961del
 ClinVar dbSNP
17g.43071130G>ACA10591946BRCA1c.4781C>T (p.Ser1594Phe)
c.4784C>T (p.Ser1595Phe)
c.4658C>T (p.Ser1553Phe)
c.4778C>T (p.Ser1593Phe)
c.4706C>T (p.Ser1569Phe)
c.1472C>T (p.Ser491Phe)
c.1334C>T (p.Ser445Phe)
c.3896C>T (p.Ser1299Phe)
c.4661C>T (p.Ser1554Phe)
c.4850C>T (p.Ser1617Phe)
c.4643C>T (p.Ser1548Phe)
c.1346C>T (p.Ser449Phe)
c.1391C>T (p.Ser464Phe)
c.4847C>T (p.Ser1616Phe)
c.1171C>T
c.1358C>T (p.Ser453Phe)
c.*4567C>T (n.*4567C>T)
c.1097C>T (p.Ser366Phe)
c.5-7179C>T (n.5-7179C>T)
c.257C>T (p.Ser86Phe)
c.-98-20940C>T (n.-98-20940C>T)
n.4920C>T
n.4961C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
17g.43071130G>CCA10591947BRCA1c.4781C>G (p.Ser1594Cys)
c.4784C>G (p.Ser1595Cys)
c.4658C>G (p.Ser1553Cys)
c.4778C>G (p.Ser1593Cys)
c.4706C>G (p.Ser1569Cys)
c.1472C>G (p.Ser491Cys)
c.1334C>G (p.Ser445Cys)
c.3896C>G (p.Ser1299Cys)
c.4661C>G (p.Ser1554Cys)
c.4850C>G (p.Ser1617Cys)
c.4643C>G (p.Ser1548Cys)
c.1346C>G (p.Ser449Cys)
c.1391C>G (p.Ser464Cys)
c.4847C>G (p.Ser1616Cys)
c.1171C>G
c.1358C>G (p.Ser453Cys)
c.*4567C>G (n.*4567C>G)
c.1097C>G (p.Ser366Cys)
c.5-7179C>G (n.5-7179C>G)
c.257C>G (p.Ser86Cys)
c.-98-20940C>G (n.-98-20940C>G)
n.4920C>G
n.4961C>G
 dbSNP
17g.43071130G=CA2260772941BRCA1c.4781C= (p.Ser1594=)
c.4784C= (p.Ser1595=)
c.4658C= (p.Ser1553=)
c.4778C= (p.Ser1593=)
c.4706C= (p.Ser1569=)
c.1472C= (p.Ser491=)
c.1334C= (p.Ser445=)
c.3896C= (p.Ser1299=)
c.4661C= (p.Ser1554=)
c.4850C= (p.Ser1617=)
c.4643C= (p.Ser1548=)
c.1346C= (p.Ser449=)
c.1391C= (p.Ser464=)
c.4847C= (p.Ser1616=)
c.1171C=
c.1358C= (p.Ser453=)
c.*4567C= (n.*4567C=)
c.1097C= (p.Ser366=)
c.5-7179C= (n.5-7179C=)
c.257C= (p.Ser86=)
c.-98-20940C= (n.-98-20940C=)
n.4920C=
n.4961C=
17g.43071130G>TCA10591948BRCA1c.4781C>A (p.Ser1594Tyr)
c.4784C>A (p.Ser1595Tyr)
c.4658C>A (p.Ser1553Tyr)
c.4778C>A (p.Ser1593Tyr)
c.4706C>A (p.Ser1569Tyr)
c.1472C>A (p.Ser491Tyr)
c.1334C>A (p.Ser445Tyr)
c.3896C>A (p.Ser1299Tyr)
c.4661C>A (p.Ser1554Tyr)
c.4850C>A (p.Ser1617Tyr)
c.4643C>A (p.Ser1548Tyr)
c.1346C>A (p.Ser449Tyr)
c.1391C>A (p.Ser464Tyr)
c.4847C>A (p.Ser1616Tyr)
c.1171C>A
c.1358C>A (p.Ser453Tyr)
c.*4567C>A (n.*4567C>A)
c.1097C>A (p.Ser366Tyr)
c.5-7179C>A (n.5-7179C>A)
c.257C>A (p.Ser86Tyr)
c.-98-20940C>A (n.-98-20940C>A)
n.4920C>A
n.4961C>A
17g.43071131A=CA2260772943BRCA1c.4780T= (p.Ser1594=)
c.4783T= (p.Ser1595=)
c.4657T= (p.Ser1553=)
c.4777T= (p.Ser1593=)
c.4705T= (p.Ser1569=)
c.1471T= (p.Ser491=)
c.1333T= (p.Ser445=)
c.3895T= (p.Ser1299=)
c.4660T= (p.Ser1554=)
c.4849T= (p.Ser1617=)
c.4642T= (p.Ser1548=)
c.1345T= (p.Ser449=)
c.1390T= (p.Ser464=)
c.4846T= (p.Ser1616=)
c.1170T=
c.1357T= (p.Ser453=)
c.*4566T= (n.*4566T=)
c.1096T= (p.Ser366=)
c.5-7180T= (n.5-7180T=)
c.256T= (p.Ser86=)
c.-98-20941T= (n.-98-20941T=)
n.4919T=
n.4960T=
17g.43071131A>CCA10591949BRCA1c.4780T>G (p.Ser1594Ala)
c.4783T>G (p.Ser1595Ala)
c.4657T>G (p.Ser1553Ala)
c.4777T>G (p.Ser1593Ala)
c.4705T>G (p.Ser1569Ala)
c.1471T>G (p.Ser491Ala)
c.1333T>G (p.Ser445Ala)
c.3895T>G (p.Ser1299Ala)
c.4660T>G (p.Ser1554Ala)
c.4849T>G (p.Ser1617Ala)
c.4642T>G (p.Ser1548Ala)
c.1345T>G (p.Ser449Ala)
c.1390T>G (p.Ser464Ala)
c.4846T>G (p.Ser1616Ala)
c.1170T>G
c.1357T>G (p.Ser453Ala)
c.*4566T>G (n.*4566T>G)
c.1096T>G (p.Ser366Ala)
c.5-7180T>G (n.5-7180T>G)
c.256T>G (p.Ser86Ala)
c.-98-20941T>G (n.-98-20941T>G)
n.4919T>G
n.4960T>G
 ClinVar
17g.43071131A>GCA10591950BRCA1c.4780T>C (p.Ser1594Pro)
c.4783T>C (p.Ser1595Pro)
c.4657T>C (p.Ser1553Pro)
c.4777T>C (p.Ser1593Pro)
c.4705T>C (p.Ser1569Pro)
c.1471T>C (p.Ser491Pro)
c.1333T>C (p.Ser445Pro)
c.3895T>C (p.Ser1299Pro)
c.4660T>C (p.Ser1554Pro)
c.4849T>C (p.Ser1617Pro)
c.4642T>C (p.Ser1548Pro)
c.1345T>C (p.Ser449Pro)
c.1390T>C (p.Ser464Pro)
c.4846T>C (p.Ser1616Pro)
c.1170T>C
c.1357T>C (p.Ser453Pro)
c.*4566T>C (n.*4566T>C)
c.1096T>C (p.Ser366Pro)
c.5-7180T>C (n.5-7180T>C)
c.256T>C (p.Ser86Pro)
c.-98-20941T>C (n.-98-20941T>C)
n.4919T>C
n.4960T>C
 ClinVar dbSNP
17g.43071131A>TCA10591951BRCA1c.4780T>A (p.Ser1594Thr)
c.4783T>A (p.Ser1595Thr)
c.4657T>A (p.Ser1553Thr)
c.4777T>A (p.Ser1593Thr)
c.4705T>A (p.Ser1569Thr)
c.1471T>A (p.Ser491Thr)
c.1333T>A (p.Ser445Thr)
c.3895T>A (p.Ser1299Thr)
c.4660T>A (p.Ser1554Thr)
c.4849T>A (p.Ser1617Thr)
c.4642T>A (p.Ser1548Thr)
c.1345T>A (p.Ser449Thr)
c.1390T>A (p.Ser464Thr)
c.4846T>A (p.Ser1616Thr)
c.1170T>A
c.1357T>A (p.Ser453Thr)
c.*4566T>A (n.*4566T>A)
c.1096T>A (p.Ser366Thr)
c.5-7180T>A (n.5-7180T>A)
c.256T>A (p.Ser86Thr)
c.-98-20941T>A (n.-98-20941T>A)
n.4919T>A
n.4960T>A
 ClinVar dbSNP
17g.43071131_43071132delinsATCA2260772942BRCA1c.4779_4780delinsAT (p.Pro1593=)
c.4782_4783delinsAT (p.Pro1594=)
c.4656_4657delinsAT (p.Pro1552=)
c.4776_4777delinsAT (p.Pro1592=)
c.4704_4705delinsAT (p.Pro1568=)
c.1470_1471delinsAT (p.Pro490=)
c.1332_1333delinsAT (p.Pro444=)
c.3894_3895delinsAT (p.Pro1298=)
c.4659_4660delinsAT (p.Pro1553=)
c.4848_4849delinsAT (p.Pro1616=)
c.4641_4642delinsAT (p.Pro1547=)
c.1344_1345delinsAT (p.Pro448=)
c.1389_1390delinsAT (p.Pro463=)
c.4845_4846delinsAT (p.Pro1615=)
c.1169_1170delinsAT
c.1356_1357delinsAT (p.Pro452=)
c.*4565_*4566delinsAT (n.*4565_*4566delinsAT)
c.1095_1096delinsAT (p.Pro365=)
c.5-7181_5-7180delinsAT (n.5-7181_5-7180delinsAT)
c.255_256delinsAT (p.Pro85=)
c.-98-20942_-98-20941delinsAT (n.-98-20942_-98-20941delinsAT)
n.4918_4919delinsAT
n.4959_4960delinsAT
17g.43071132delCA915950108BRCA1c.4779del (p.Ser1594LeufsTer6)
c.4782del (p.Ser1595LeufsTer6)
c.4656del (p.Ser1553LeufsTer6)
c.4776del (p.Ser1593LeufsTer6)
c.4704del (p.Ser1569LeufsTer6)
c.1470del (p.Ser491LeufsTer6)
c.1332del (p.Ser445LeufsTer6)
c.3894del (p.Ser1299LeufsTer6)
c.4659del (p.Ser1554LeufsTer6)
c.4848del (p.Ser1617LeufsTer6)
c.4641del (p.Ser1548LeufsTer6)
c.1344del (p.Ser449LeufsTer6)
c.1389del (p.Ser464LeufsTer6)
c.4845del (p.Ser1616LeufsTer6)
c.1169del
c.1356del (p.Ser453LeufsTer6)
c.*4565del (n.*4565del)
c.1095del (p.Ser366LeufsTer6)
c.5-7181del (n.5-7181del)
c.255del (p.Ser86LeufsTer6)
c.-98-20942del (n.-98-20942del)
n.4918del
n.4959del
 ClinVar dbSNP
17g.43071132T>ACA500231844BRCA1c.4779A>T (p.Pro1593=)
c.4782A>T (p.Pro1594=)
c.4656A>T (p.Pro1552=)
c.4776A>T (p.Pro1592=)
c.4704A>T (p.Pro1568=)
c.1470A>T (p.Pro490=)
c.1332A>T (p.Pro444=)
c.3894A>T (p.Pro1298=)
c.4659A>T (p.Pro1553=)
c.4848A>T (p.Pro1616=)
c.4641A>T (p.Pro1547=)
c.1344A>T (p.Pro448=)
c.1389A>T (p.Pro463=)
c.4845A>T (p.Pro1615=)
c.1169A>T
c.1356A>T (p.Pro452=)
c.*4565A>T (n.*4565A>T)
c.1095A>T (p.Pro365=)
c.5-7181A>T (n.5-7181A>T)
c.255A>T (p.Pro85=)
c.-98-20942A>T (n.-98-20942A>T)
n.4918A>T
n.4959A>T
17g.43071132T>CCA10580508BRCA1c.4779A>G (p.Pro1593=)
c.4782A>G (p.Pro1594=)
c.4656A>G (p.Pro1552=)
c.4776A>G (p.Pro1592=)
c.4704A>G (p.Pro1568=)
c.1470A>G (p.Pro490=)
c.1332A>G (p.Pro444=)
c.3894A>G (p.Pro1298=)
c.4659A>G (p.Pro1553=)
c.4848A>G (p.Pro1616=)
c.4641A>G (p.Pro1547=)
c.1344A>G (p.Pro448=)
c.1389A>G (p.Pro463=)
c.4845A>G (p.Pro1615=)
c.1169A>G
c.1356A>G (p.Pro452=)
c.*4565A>G (n.*4565A>G)
c.1095A>G (p.Pro365=)
c.5-7181A>G (n.5-7181A>G)
c.255A>G (p.Pro85=)
c.-98-20942A>G (n.-98-20942A>G)
n.4918A>G
n.4959A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43071132T>GCA500231843BRCA1c.4779A>C (p.Pro1593=)
c.4782A>C (p.Pro1594=)
c.4656A>C (p.Pro1552=)
c.4776A>C (p.Pro1592=)
c.4704A>C (p.Pro1568=)
c.1470A>C (p.Pro490=)
c.1332A>C (p.Pro444=)
c.3894A>C (p.Pro1298=)
c.4659A>C (p.Pro1553=)
c.4848A>C (p.Pro1616=)
c.4641A>C (p.Pro1547=)
c.1344A>C (p.Pro448=)
c.1389A>C (p.Pro463=)
c.4845A>C (p.Pro1615=)
c.1169A>C
c.1356A>C (p.Pro452=)
c.*4565A>C (n.*4565A>C)
c.1095A>C (p.Pro365=)
c.5-7181A>C (n.5-7181A>C)
c.255A>C (p.Pro85=)
c.-98-20942A>C (n.-98-20942A>C)
n.4918A>C
n.4959A>C
17g.43071132T=CA2260772944BRCA1c.4779A= (p.Pro1593=)
c.4782A= (p.Pro1594=)
c.4656A= (p.Pro1552=)
c.4776A= (p.Pro1592=)
c.4704A= (p.Pro1568=)
c.1470A= (p.Pro490=)
c.1332A= (p.Pro444=)
c.3894A= (p.Pro1298=)
c.4659A= (p.Pro1553=)
c.4848A= (p.Pro1616=)
c.4641A= (p.Pro1547=)
c.1344A= (p.Pro448=)
c.1389A= (p.Pro463=)
c.4845A= (p.Pro1615=)
c.1169A=
c.1356A= (p.Pro452=)
c.*4565A= (n.*4565A=)
c.1095A= (p.Pro365=)
c.5-7181A= (n.5-7181A=)
c.255A= (p.Pro85=)
c.-98-20942A= (n.-98-20942A=)
n.4918A=
n.4959A=
17g.43071132_43071133delinsTGCA2260772945BRCA1c.4778_4779delinsCA (p.Pro1593=)
c.4781_4782delinsCA (p.Pro1594=)
c.4655_4656delinsCA (p.Pro1552=)
c.4775_4776delinsCA (p.Pro1592=)
c.4703_4704delinsCA (p.Pro1568=)
c.1469_1470delinsCA (p.Pro490=)
c.1331_1332delinsCA (p.Pro444=)
c.3893_3894delinsCA (p.Pro1298=)
c.4658_4659delinsCA (p.Pro1553=)
c.4847_4848delinsCA (p.Pro1616=)
c.4640_4641delinsCA (p.Pro1547=)
c.1343_1344delinsCA (p.Pro448=)
c.1388_1389delinsCA (p.Pro463=)
c.4844_4845delinsCA (p.Pro1615=)
c.1168_1169delinsCA
c.1355_1356delinsCA (p.Pro452=)
c.*4564_*4565delinsCA (n.*4564_*4565delinsCA)
c.1094_1095delinsCA (p.Pro365=)
c.5-7182_5-7181delinsCA (n.5-7182_5-7181delinsCA)
c.254_255delinsCA (p.Pro85=)
c.-98-20943_-98-20942delinsCA (n.-98-20943_-98-20942delinsCA)
n.4917_4918delinsCA
n.4958_4959delinsCA
17g.43071133G>ACA10591952BRCA1c.4778C>T (p.Pro1593Leu)
c.4781C>T (p.Pro1594Leu)
c.4655C>T (p.Pro1552Leu)
c.4775C>T (p.Pro1592Leu)
c.4703C>T (p.Pro1568Leu)
c.1469C>T (p.Pro490Leu)
c.1331C>T (p.Pro444Leu)
c.3893C>T (p.Pro1298Leu)
c.4658C>T (p.Pro1553Leu)
c.4847C>T (p.Pro1616Leu)
c.4640C>T (p.Pro1547Leu)
c.1343C>T (p.Pro448Leu)
c.1388C>T (p.Pro463Leu)
c.4844C>T (p.Pro1615Leu)
c.1168C>T
c.1355C>T (p.Pro452Leu)
c.*4564C>T (n.*4564C>T)
c.1094C>T (p.Pro365Leu)
c.5-7182C>T (n.5-7182C>T)
c.254C>T (p.Pro85Leu)
c.-98-20943C>T (n.-98-20943C>T)
n.4917C>T
n.4958C>T
 ClinVar dbSNP
17g.43071133G>CCA10591953BRCA1c.4778C>G (p.Pro1593Arg)
c.4781C>G (p.Pro1594Arg)
c.4655C>G (p.Pro1552Arg)
c.4775C>G (p.Pro1592Arg)
c.4703C>G (p.Pro1568Arg)
c.1469C>G (p.Pro490Arg)
c.1331C>G (p.Pro444Arg)
c.3893C>G (p.Pro1298Arg)
c.4658C>G (p.Pro1553Arg)
c.4847C>G (p.Pro1616Arg)
c.4640C>G (p.Pro1547Arg)
c.1343C>G (p.Pro448Arg)
c.1388C>G (p.Pro463Arg)
c.4844C>G (p.Pro1615Arg)
c.1168C>G
c.1355C>G (p.Pro452Arg)
c.*4564C>G (n.*4564C>G)
c.1094C>G (p.Pro365Arg)
c.5-7182C>G (n.5-7182C>G)
c.254C>G (p.Pro85Arg)
c.-98-20943C>G (n.-98-20943C>G)
n.4917C>G
n.4958C>G
 dbSNP gnomAD v2 gnomAD v4
17g.43071133G=CA2260772946BRCA1c.4778C= (p.Pro1593=)
c.4781C= (p.Pro1594=)
c.4655C= (p.Pro1552=)
c.4775C= (p.Pro1592=)
c.4703C= (p.Pro1568=)
c.1469C= (p.Pro490=)
c.1331C= (p.Pro444=)
c.3893C= (p.Pro1298=)
c.4658C= (p.Pro1553=)
c.4847C= (p.Pro1616=)
c.4640C= (p.Pro1547=)
c.1343C= (p.Pro448=)
c.1388C= (p.Pro463=)
c.4844C= (p.Pro1615=)
c.1168C=
c.1355C= (p.Pro452=)
c.*4564C= (n.*4564C=)
c.1094C= (p.Pro365=)
c.5-7182C= (n.5-7182C=)
c.254C= (p.Pro85=)
c.-98-20943C= (n.-98-20943C=)
n.4917C=
n.4958C=
17g.43071133G>TCA10591954BRCA1c.4778C>A (p.Pro1593Gln)
c.4781C>A (p.Pro1594Gln)
c.4655C>A (p.Pro1552Gln)
c.4775C>A (p.Pro1592Gln)
c.4703C>A (p.Pro1568Gln)
c.1469C>A (p.Pro490Gln)
c.1331C>A (p.Pro444Gln)
c.3893C>A (p.Pro1298Gln)
c.4658C>A (p.Pro1553Gln)
c.4847C>A (p.Pro1616Gln)
c.4640C>A (p.Pro1547Gln)
c.1343C>A (p.Pro448Gln)
c.1388C>A (p.Pro463Gln)
c.4844C>A (p.Pro1615Gln)
c.1168C>A
c.1355C>A (p.Pro452Gln)
c.*4564C>A (n.*4564C>A)
c.1094C>A (p.Pro365Gln)
c.5-7182C>A (n.5-7182C>A)
c.254C>A (p.Pro85Gln)
c.-98-20943C>A (n.-98-20943C>A)
n.4917C>A
n.4958C>A
 ClinVar dbSNP
17g.43071134delCA1139665581BRCA1c.4778del (p.Pro1593HisfsTer7)
c.4781del (p.Pro1594HisfsTer7)
c.4655del (p.Pro1552HisfsTer7)
c.4775del (p.Pro1592HisfsTer7)
c.4703del (p.Pro1568HisfsTer7)
c.1469del (p.Pro490HisfsTer7)
c.1331del (p.Pro444HisfsTer7)
c.3893del (p.Pro1298HisfsTer7)
c.4658del (p.Pro1553HisfsTer7)
c.4847del (p.Pro1616HisfsTer7)
c.4640del (p.Pro1547HisfsTer7)
c.1343del (p.Pro448HisfsTer7)
c.1388del (p.Pro463HisfsTer7)
c.4844del (p.Pro1615HisfsTer7)
c.1168del
c.1355del (p.Pro452HisfsTer7)
c.*4564del (n.*4564del)
c.1094del (p.Pro365HisfsTer7)
c.5-7182del (n.5-7182del)
c.254del (p.Pro85HisfsTer7)
c.-98-20943del (n.-98-20943del)
n.4917del
n.4958del
 ClinVar dbSNP
17g.43071134G>ACA10591955BRCA1c.4777C>T (p.Pro1593Ser)
c.4780C>T (p.Pro1594Ser)
c.4654C>T (p.Pro1552Ser)
c.4774C>T (p.Pro1592Ser)
c.4702C>T (p.Pro1568Ser)
c.1468C>T (p.Pro490Ser)
c.1330C>T (p.Pro444Ser)
c.3892C>T (p.Pro1298Ser)
c.4657C>T (p.Pro1553Ser)
c.4846C>T (p.Pro1616Ser)
c.4639C>T (p.Pro1547Ser)
c.1342C>T (p.Pro448Ser)
c.1387C>T (p.Pro463Ser)
c.4843C>T (p.Pro1615Ser)
c.1167C>T
c.1354C>T (p.Pro452Ser)
c.*4563C>T (n.*4563C>T)
c.1093C>T (p.Pro365Ser)
c.5-7183C>T (n.5-7183C>T)
c.253C>T (p.Pro85Ser)
c.-98-20944C>T (n.-98-20944C>T)
n.4916C>T
n.4957C>T
 ClinVar dbSNP
17g.43071134G>CCA003021BRCA1c.4777C>G (p.Pro1593Ala)
c.4780C>G (p.Pro1594Ala)
c.4654C>G (p.Pro1552Ala)
c.4774C>G (p.Pro1592Ala)
c.4702C>G (p.Pro1568Ala)
c.1468C>G (p.Pro490Ala)
c.1330C>G (p.Pro444Ala)
c.3892C>G (p.Pro1298Ala)
c.4657C>G (p.Pro1553Ala)
c.4846C>G (p.Pro1616Ala)
c.4639C>G (p.Pro1547Ala)
c.1342C>G (p.Pro448Ala)
c.1387C>G (p.Pro463Ala)
c.4843C>G (p.Pro1615Ala)
c.1167C>G
c.1354C>G (p.Pro452Ala)
c.*4563C>G (n.*4563C>G)
c.1093C>G (p.Pro365Ala)
c.5-7183C>G (n.5-7183C>G)
c.253C>G (p.Pro85Ala)
c.-98-20944C>G (n.-98-20944C>G)
n.4916C>G
n.4957C>G
 ClinVar dbSNP
17g.43071134G=CA2260772948BRCA1c.4777C= (p.Pro1593=)
c.4780C= (p.Pro1594=)
c.4654C= (p.Pro1552=)
c.4774C= (p.Pro1592=)
c.4702C= (p.Pro1568=)
c.1468C= (p.Pro490=)
c.1330C= (p.Pro444=)
c.3892C= (p.Pro1298=)
c.4657C= (p.Pro1553=)
c.4846C= (p.Pro1616=)
c.4639C= (p.Pro1547=)
c.1342C= (p.Pro448=)
c.1387C= (p.Pro463=)
c.4843C= (p.Pro1615=)
c.1167C=
c.1354C= (p.Pro452=)
c.*4563C= (n.*4563C=)
c.1093C= (p.Pro365=)
c.5-7183C= (n.5-7183C=)
c.253C= (p.Pro85=)
c.-98-20944C= (n.-98-20944C=)
n.4916C=
n.4957C=
17g.43071134G>TCA10591956BRCA1c.4777C>A (p.Pro1593Thr)
c.4780C>A (p.Pro1594Thr)
c.4654C>A (p.Pro1552Thr)
c.4774C>A (p.Pro1592Thr)
c.4702C>A (p.Pro1568Thr)
c.1468C>A (p.Pro490Thr)
c.1330C>A (p.Pro444Thr)
c.3892C>A (p.Pro1298Thr)
c.4657C>A (p.Pro1553Thr)
c.4846C>A (p.Pro1616Thr)
c.4639C>A (p.Pro1547Thr)
c.1342C>A (p.Pro448Thr)
c.1387C>A (p.Pro463Thr)
c.4843C>A (p.Pro1615Thr)
c.1167C>A
c.1354C>A (p.Pro452Thr)
c.*4563C>A (n.*4563C>A)
c.1093C>A (p.Pro365Thr)
c.5-7183C>A (n.5-7183C>A)
c.253C>A (p.Pro85Thr)
c.-98-20944C>A (n.-98-20944C>A)
n.4916C>A
n.4957C>A
 ClinVar
17g.43071134_43071139delinsGTATGTCA2260772947BRCA1c.4772_4777delinsACATAC (p.Asn1591=)
c.4775_4780delinsACATAC (p.Asn1592=)
c.4649_4654delinsACATAC (p.Asn1550=)
c.4769_4774delinsACATAC (p.Asn1590=)
c.4697_4702delinsACATAC (p.Asn1566=)
c.1463_1468delinsACATAC (p.Asn488=)
c.1325_1330delinsACATAC (p.Asn442=)
c.3887_3892delinsACATAC (p.Asn1296=)
c.4652_4657delinsACATAC (p.Asn1551=)
c.4841_4846delinsACATAC (p.Asn1614=)
c.4634_4639delinsACATAC (p.Asn1545=)
c.1337_1342delinsACATAC (p.Asn446=)
c.1382_1387delinsACATAC (p.Asn461=)
c.4838_4843delinsACATAC (p.Asn1613=)
c.1162_1167delinsACATAC
c.1349_1354delinsACATAC (p.Asn450=)
c.*4558_*4563delinsACATAC (n.*4558_*4563delinsACATAC)
c.1088_1093delinsACATAC (p.Asn363=)
c.5-7188_5-7183delinsACATAC (n.5-7188_5-7183delinsACATAC)
c.248_253delinsACATAC (p.Asn83=)
c.-98-20949_-98-20944delinsACATAC (n.-98-20949_-98-20944delinsACATAC)
n.4911_4916delinsACATAC
n.4952_4957delinsACATAC
17g.43071135T>ACA500231845BRCA1c.4776A>T (p.Ile1592=)
c.4779A>T (p.Ile1593=)
c.4653A>T (p.Ile1551=)
c.4773A>T (p.Ile1591=)
c.4701A>T (p.Ile1567=)
c.1467A>T (p.Ile489=)
c.1329A>T (p.Ile443=)
c.3891A>T (p.Ile1297=)
c.4656A>T (p.Ile1552=)
c.4845A>T (p.Ile1615=)
c.4638A>T (p.Ile1546=)
c.1341A>T (p.Ile447=)
c.1386A>T (p.Ile462=)
c.4842A>T (p.Ile1614=)
c.1166A>T
c.1353A>T (p.Ile451=)
c.*4562A>T (n.*4562A>T)
c.1092A>T (p.Ile364=)
c.5-7184A>T (n.5-7184A>T)
c.252A>T (p.Ile84=)
c.-98-20945A>T (n.-98-20945A>T)
n.4915A>T
n.4956A>T
 dbSNP
17g.43071135T>CCA10591957BRCA1c.4776A>G (p.Ile1592Met)
c.4779A>G (p.Ile1593Met)
c.4653A>G (p.Ile1551Met)
c.4773A>G (p.Ile1591Met)
c.4701A>G (p.Ile1567Met)
c.1467A>G (p.Ile489Met)
c.1329A>G (p.Ile443Met)
c.3891A>G (p.Ile1297Met)
c.4656A>G (p.Ile1552Met)
c.4845A>G (p.Ile1615Met)
c.4638A>G (p.Ile1546Met)
c.1341A>G (p.Ile447Met)
c.1386A>G (p.Ile462Met)
c.4842A>G (p.Ile1614Met)
c.1166A>G
c.1353A>G (p.Ile451Met)
c.*4562A>G (n.*4562A>G)
c.1092A>G (p.Ile364Met)
c.5-7184A>G (n.5-7184A>G)
c.252A>G (p.Ile84Met)
c.-98-20945A>G (n.-98-20945A>G)
n.4915A>G
n.4956A>G
17g.43071135T>GCA500231846BRCA1c.4776A>C (p.Ile1592=)
c.4779A>C (p.Ile1593=)
c.4653A>C (p.Ile1551=)
c.4773A>C (p.Ile1591=)
c.4701A>C (p.Ile1567=)
c.1467A>C (p.Ile489=)
c.1329A>C (p.Ile443=)
c.3891A>C (p.Ile1297=)
c.4656A>C (p.Ile1552=)
c.4845A>C (p.Ile1615=)
c.4638A>C (p.Ile1546=)
c.1341A>C (p.Ile447=)
c.1386A>C (p.Ile462=)
c.4842A>C (p.Ile1614=)
c.1166A>C
c.1353A>C (p.Ile451=)
c.*4562A>C (n.*4562A>C)
c.1092A>C (p.Ile364=)
c.5-7184A>C (n.5-7184A>C)
c.252A>C (p.Ile84=)
c.-98-20945A>C (n.-98-20945A>C)
n.4915A>C
n.4956A>C
 dbSNP
17g.43071135_43071139delinsGCA003016BRCA1c.4772_4776delinsC (p.Asn1591ThrfsTer8)
c.4775_4779delinsC (p.Asn1592ThrfsTer8)
c.4649_4653delinsC (p.Asn1550ThrfsTer8)
c.4769_4773delinsC (p.Asn1590ThrfsTer8)
c.4697_4701delinsC (p.Asn1566ThrfsTer8)
c.1463_1467delinsC (p.Asn488ThrfsTer8)
c.1325_1329delinsC (p.Asn442ThrfsTer8)
c.3887_3891delinsC (p.Asn1296ThrfsTer8)
c.4652_4656delinsC (p.Asn1551ThrfsTer8)
c.4841_4845delinsC (p.Asn1614ThrfsTer8)
c.4634_4638delinsC (p.Asn1545ThrfsTer8)
c.1337_1341delinsC (p.Asn446ThrfsTer8)
c.1382_1386delinsC (p.Asn461ThrfsTer8)
c.4838_4842delinsC (p.Asn1613ThrfsTer8)
c.1162_1166delinsC
c.1349_1353delinsC (p.Asn450ThrfsTer8)
c.*4558_*4562delinsC (n.*4558_*4562delinsC)
c.1088_1092delinsC (p.Asn363ThrfsTer8)
c.5-7188_5-7184delinsC (n.5-7188_5-7184delinsC)
c.248_252delinsC (p.Asn83ThrfsTer8)
c.-98-20949_-98-20945delinsC (n.-98-20949_-98-20945delinsC)
n.4911_4915delinsC
n.4952_4956delinsC
 ClinVar dbSNP
17g.43071136A>CCA10591958BRCA1c.4775T>G (p.Ile1592Arg)
c.4778T>G (p.Ile1593Arg)
c.4652T>G (p.Ile1551Arg)
c.4772T>G (p.Ile1591Arg)
c.4700T>G (p.Ile1567Arg)
c.1466T>G (p.Ile489Arg)
c.1328T>G (p.Ile443Arg)
c.3890T>G (p.Ile1297Arg)
c.4655T>G (p.Ile1552Arg)
c.4844T>G (p.Ile1615Arg)
c.4637T>G (p.Ile1546Arg)
c.1340T>G (p.Ile447Arg)
c.1385T>G (p.Ile462Arg)
c.4841T>G (p.Ile1614Arg)
c.1165T>G
c.1352T>G (p.Ile451Arg)
c.*4561T>G (n.*4561T>G)
c.1091T>G (p.Ile364Arg)
c.5-7185T>G (n.5-7185T>G)
c.251T>G (p.Ile84Arg)
c.-98-20946T>G (n.-98-20946T>G)
n.4914T>G
n.4955T>G
 dbSNP
17g.43071136A>GCA10591959BRCA1c.4775T>C (p.Ile1592Thr)
c.4778T>C (p.Ile1593Thr)
c.4652T>C (p.Ile1551Thr)
c.4772T>C (p.Ile1591Thr)
c.4700T>C (p.Ile1567Thr)
c.1466T>C (p.Ile489Thr)
c.1328T>C (p.Ile443Thr)
c.3890T>C (p.Ile1297Thr)
c.4655T>C (p.Ile1552Thr)
c.4844T>C (p.Ile1615Thr)
c.4637T>C (p.Ile1546Thr)
c.1340T>C (p.Ile447Thr)
c.1385T>C (p.Ile462Thr)
c.4841T>C (p.Ile1614Thr)
c.1165T>C
c.1352T>C (p.Ile451Thr)
c.*4561T>C (n.*4561T>C)
c.1091T>C (p.Ile364Thr)
c.5-7185T>C (n.5-7185T>C)
c.251T>C (p.Ile84Thr)
c.-98-20946T>C (n.-98-20946T>C)
n.4914T>C
n.4955T>C
 ClinVar dbSNP
17g.43071136A>TCA10591960BRCA1c.4775T>A (p.Ile1592Lys)
c.4778T>A (p.Ile1593Lys)
c.4652T>A (p.Ile1551Lys)
c.4772T>A (p.Ile1591Lys)
c.4700T>A (p.Ile1567Lys)
c.1466T>A (p.Ile489Lys)
c.1328T>A (p.Ile443Lys)
c.3890T>A (p.Ile1297Lys)
c.4655T>A (p.Ile1552Lys)
c.4844T>A (p.Ile1615Lys)
c.4637T>A (p.Ile1546Lys)
c.1340T>A (p.Ile447Lys)
c.1385T>A (p.Ile462Lys)
c.4841T>A (p.Ile1614Lys)
c.1165T>A
c.1352T>A (p.Ile451Lys)
c.*4561T>A (n.*4561T>A)
c.1091T>A (p.Ile364Lys)
c.5-7185T>A (n.5-7185T>A)
c.251T>A (p.Ile84Lys)
c.-98-20946T>A (n.-98-20946T>A)
n.4914T>A
n.4955T>A
 dbSNP
17g.43071136dupCA645578305BRCA1c.4775dup (p.Pro1593ThrfsTer28)
c.4778dup (p.Pro1594ThrfsTer28)
c.4652dup (p.Pro1552ThrfsTer28)
c.4772dup (p.Pro1592ThrfsTer28)
c.4700dup (p.Pro1568ThrfsTer28)
c.1466dup (p.Pro490ThrfsTer28)
c.1328dup (p.Pro444ThrfsTer28)
c.3890dup (p.Pro1298ThrfsTer28)
c.4655dup (p.Pro1553ThrfsTer28)
c.4844dup (p.Pro1616ThrfsTer28)
c.4637dup (p.Pro1547ThrfsTer28)
c.1340dup (p.Pro448ThrfsTer28)
c.1385dup (p.Pro463ThrfsTer28)
c.4841dup (p.Pro1615ThrfsTer28)
c.1165dup
c.1352dup (p.Pro452ThrfsTer28)
c.*4561dup (n.*4561dup)
c.1091dup (p.Pro365ThrfsTer28)
c.5-7185dup (n.5-7185dup)
c.251dup (p.Pro85ThrfsTer28)
c.-98-20946dup (n.-98-20946dup)
n.4914dup
n.4955dup
 COSMIC COSMIC
17g.43071137_43071147delCA2695225908BRCA1c.4765_4775del (p.Val1589ThrfsTer28)
c.4768_4778del (p.Val1590ThrfsTer28)
c.4642_4652del (p.Val1548ThrfsTer28)
c.4762_4772del (p.Val1588ThrfsTer28)
c.4690_4700del (p.Val1564ThrfsTer28)
c.1456_1466del (p.Val486ThrfsTer28)
c.1318_1328del (p.Val440ThrfsTer28)
c.3880_3890del (p.Val1294ThrfsTer28)
c.4645_4655del (p.Val1549ThrfsTer28)
c.4834_4844del (p.Val1612ThrfsTer28)
c.4627_4637del (p.Val1543ThrfsTer28)
c.1330_1340del (p.Val444ThrfsTer28)
c.1375_1385del (p.Val459ThrfsTer28)
c.4831_4841del (p.Val1611ThrfsTer28)
c.1155_1165del
c.1342_1352del (p.Val448ThrfsTer28)
c.*4551_*4561del (n.*4551_*4561del)
c.1081_1091del (p.Val361ThrfsTer28)
c.5-7195_5-7185del (n.5-7195_5-7185del)
c.241_251del (p.Val81ThrfsTer28)
c.-98-20956_-98-20946del (n.-98-20956_-98-20946del)
n.4904_4914del
n.4945_4955del
17g.43071137T>ACA003020BRCA1c.4774A>T (p.Ile1592Leu)
c.4777A>T (p.Ile1593Leu)
c.4651A>T (p.Ile1551Leu)
c.4771A>T (p.Ile1591Leu)
c.4699A>T (p.Ile1567Leu)
c.1465A>T (p.Ile489Leu)
c.1327A>T (p.Ile443Leu)
c.3889A>T (p.Ile1297Leu)
c.4654A>T (p.Ile1552Leu)
c.4843A>T (p.Ile1615Leu)
c.4636A>T (p.Ile1546Leu)
c.1339A>T (p.Ile447Leu)
c.1384A>T (p.Ile462Leu)
c.4840A>T (p.Ile1614Leu)
c.1164A>T
c.1351A>T (p.Ile451Leu)
c.*4560A>T (n.*4560A>T)
c.1090A>T (p.Ile364Leu)
c.5-7186A>T (n.5-7186A>T)
c.250A>T (p.Ile84Leu)
c.-98-20947A>T (n.-98-20947A>T)
n.4913A>T
n.4954A>T
 ClinVar dbSNP
17g.43071137T>CCA003019BRCA1c.4774A>G (p.Ile1592Val)
c.4777A>G (p.Ile1593Val)
c.4651A>G (p.Ile1551Val)
c.4771A>G (p.Ile1591Val)
c.4699A>G (p.Ile1567Val)
c.1465A>G (p.Ile489Val)
c.1327A>G (p.Ile443Val)
c.3889A>G (p.Ile1297Val)
c.4654A>G (p.Ile1552Val)
c.4843A>G (p.Ile1615Val)
c.4636A>G (p.Ile1546Val)
c.1339A>G (p.Ile447Val)
c.1384A>G (p.Ile462Val)
c.4840A>G (p.Ile1614Val)
c.1164A>G
c.1351A>G (p.Ile451Val)
c.*4560A>G (n.*4560A>G)
c.1090A>G (p.Ile364Val)
c.5-7186A>G (n.5-7186A>G)
c.250A>G (p.Ile84Val)
c.-98-20947A>G (n.-98-20947A>G)
n.4913A>G
n.4954A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43071137T>GCA10591961BRCA1c.4774A>C (p.Ile1592Leu)
c.4777A>C (p.Ile1593Leu)
c.4651A>C (p.Ile1551Leu)
c.4771A>C (p.Ile1591Leu)
c.4699A>C (p.Ile1567Leu)
c.1465A>C (p.Ile489Leu)
c.1327A>C (p.Ile443Leu)
c.3889A>C (p.Ile1297Leu)
c.4654A>C (p.Ile1552Leu)
c.4843A>C (p.Ile1615Leu)
c.4636A>C (p.Ile1546Leu)
c.1339A>C (p.Ile447Leu)
c.1384A>C (p.Ile462Leu)
c.4840A>C (p.Ile1614Leu)
c.1164A>C
c.1351A>C (p.Ile451Leu)
c.*4560A>C (n.*4560A>C)
c.1090A>C (p.Ile364Leu)
c.5-7186A>C (n.5-7186A>C)
c.250A>C (p.Ile84Leu)
c.-98-20947A>C (n.-98-20947A>C)
n.4913A>C
n.4954A>C
 dbSNP
17g.43071137T=CA2260772949BRCA1c.4774A= (p.Ile1592=)
c.4777A= (p.Ile1593=)
c.4651A= (p.Ile1551=)
c.4771A= (p.Ile1591=)
c.4699A= (p.Ile1567=)
c.1465A= (p.Ile489=)
c.1327A= (p.Ile443=)
c.3889A= (p.Ile1297=)
c.4654A= (p.Ile1552=)
c.4843A= (p.Ile1615=)
c.4636A= (p.Ile1546=)
c.1339A= (p.Ile447=)
c.1384A= (p.Ile462=)
c.4840A= (p.Ile1614=)
c.1164A=
c.1351A= (p.Ile451=)
c.*4560A= (n.*4560A=)
c.1090A= (p.Ile364=)
c.5-7186A= (n.5-7186A=)
c.250A= (p.Ile84=)
c.-98-20947A= (n.-98-20947A=)
n.4913A=
n.4954A=
17g.43071138G>ACA500231847BRCA1c.4773C>T (p.Asn1591=)
c.4776C>T (p.Asn1592=)
c.4650C>T (p.Asn1550=)
c.4770C>T (p.Asn1590=)
c.4698C>T (p.Asn1566=)
c.1464C>T (p.Asn488=)
c.1326C>T (p.Asn442=)
c.3888C>T (p.Asn1296=)
c.4653C>T (p.Asn1551=)
c.4842C>T (p.Asn1614=)
c.4635C>T (p.Asn1545=)
c.1338C>T (p.Asn446=)
c.1383C>T (p.Asn461=)
c.4839C>T (p.Asn1613=)
c.1163C>T
c.1350C>T (p.Asn450=)
c.*4559C>T (n.*4559C>T)
c.1089C>T (p.Asn363=)
c.5-7187C>T (n.5-7187C>T)
c.249C>T (p.Asn83=)
c.-98-20948C>T (n.-98-20948C>T)
n.4912C>T
n.4953C>T
 ClinVar dbSNP
17g.43071138G>CCA003018BRCA1c.4773C>G (p.Asn1591Lys)
c.4776C>G (p.Asn1592Lys)
c.4650C>G (p.Asn1550Lys)
c.4770C>G (p.Asn1590Lys)
c.4698C>G (p.Asn1566Lys)
c.1464C>G (p.Asn488Lys)
c.1326C>G (p.Asn442Lys)
c.3888C>G (p.Asn1296Lys)
c.4653C>G (p.Asn1551Lys)
c.4842C>G (p.Asn1614Lys)
c.4635C>G (p.Asn1545Lys)
c.1338C>G (p.Asn446Lys)
c.1383C>G (p.Asn461Lys)
c.4839C>G (p.Asn1613Lys)
c.1163C>G
c.1350C>G (p.Asn450Lys)
c.*4559C>G (n.*4559C>G)
c.1089C>G (p.Asn363Lys)
c.5-7187C>G (n.5-7187C>G)
c.249C>G (p.Asn83Lys)
c.-98-20948C>G (n.-98-20948C>G)
n.4912C>G
n.4953C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43071138G=CA2260772950BRCA1c.4773C= (p.Asn1591=)
c.4776C= (p.Asn1592=)
c.4650C= (p.Asn1550=)
c.4770C= (p.Asn1590=)
c.4698C= (p.Asn1566=)
c.1464C= (p.Asn488=)
c.1326C= (p.Asn442=)
c.3888C= (p.Asn1296=)
c.4653C= (p.Asn1551=)
c.4842C= (p.Asn1614=)
c.4635C= (p.Asn1545=)
c.1338C= (p.Asn446=)
c.1383C= (p.Asn461=)
c.4839C= (p.Asn1613=)
c.1163C=
c.1350C= (p.Asn450=)
c.*4559C= (n.*4559C=)
c.1089C= (p.Asn363=)
c.5-7187C= (n.5-7187C=)
c.249C= (p.Asn83=)
c.-98-20948C= (n.-98-20948C=)
n.4912C=
n.4953C=
17g.43071138G>TCA10591962BRCA1c.4773C>A (p.Asn1591Lys)
c.4776C>A (p.Asn1592Lys)
c.4650C>A (p.Asn1550Lys)
c.4770C>A (p.Asn1590Lys)
c.4698C>A (p.Asn1566Lys)
c.1464C>A (p.Asn488Lys)
c.1326C>A (p.Asn442Lys)
c.3888C>A (p.Asn1296Lys)
c.4653C>A (p.Asn1551Lys)
c.4842C>A (p.Asn1614Lys)
c.4635C>A (p.Asn1545Lys)
c.1338C>A (p.Asn446Lys)
c.1383C>A (p.Asn461Lys)
c.4839C>A (p.Asn1613Lys)
c.1163C>A
c.1350C>A (p.Asn450Lys)
c.*4559C>A (n.*4559C>A)
c.1089C>A (p.Asn363Lys)
c.5-7187C>A (n.5-7187C>A)
c.249C>A (p.Asn83Lys)
c.-98-20948C>A (n.-98-20948C>A)
n.4912C>A
n.4953C>A
17g.43071139T>ACA10591963BRCA1c.4772A>T (p.Asn1591Ile)
c.4775A>T (p.Asn1592Ile)
c.4649A>T (p.Asn1550Ile)
c.4769A>T (p.Asn1590Ile)
c.4697A>T (p.Asn1566Ile)
c.1463A>T (p.Asn488Ile)
c.1325A>T (p.Asn442Ile)
c.3887A>T (p.Asn1296Ile)
c.4652A>T (p.Asn1551Ile)
c.4841A>T (p.Asn1614Ile)
c.4634A>T (p.Asn1545Ile)
c.1337A>T (p.Asn446Ile)
c.1382A>T (p.Asn461Ile)
c.4838A>T (p.Asn1613Ile)
c.1162A>T
c.1349A>T (p.Asn450Ile)
c.*4558A>T (n.*4558A>T)
c.1088A>T (p.Asn363Ile)
c.5-7188A>T (n.5-7188A>T)
c.248A>T (p.Asn83Ile)
c.-98-20949A>T (n.-98-20949A>T)
n.4911A>T
n.4952A>T
17g.43071139T>CCA003017BRCA1c.4772A>G (p.Asn1591Ser)
c.4775A>G (p.Asn1592Ser)
c.4649A>G (p.Asn1550Ser)
c.4769A>G (p.Asn1590Ser)
c.4697A>G (p.Asn1566Ser)
c.1463A>G (p.Asn488Ser)
c.1325A>G (p.Asn442Ser)
c.3887A>G (p.Asn1296Ser)
c.4652A>G (p.Asn1551Ser)
c.4841A>G (p.Asn1614Ser)
c.4634A>G (p.Asn1545Ser)
c.1337A>G (p.Asn446Ser)
c.1382A>G (p.Asn461Ser)
c.4838A>G (p.Asn1613Ser)
c.1162A>G
c.1349A>G (p.Asn450Ser)
c.*4558A>G (n.*4558A>G)
c.1088A>G (p.Asn363Ser)
c.5-7188A>G (n.5-7188A>G)
c.248A>G (p.Asn83Ser)
c.-98-20949A>G (n.-98-20949A>G)
n.4911A>G
n.4952A>G
 ClinVar dbSNP gnomAD v4
17g.43071139T>GCA10591964BRCA1c.4772A>C (p.Asn1591Thr)
c.4775A>C (p.Asn1592Thr)
c.4649A>C (p.Asn1550Thr)
c.4769A>C (p.Asn1590Thr)
c.4697A>C (p.Asn1566Thr)
c.1463A>C (p.Asn488Thr)
c.1325A>C (p.Asn442Thr)
c.3887A>C (p.Asn1296Thr)
c.4652A>C (p.Asn1551Thr)
c.4841A>C (p.Asn1614Thr)
c.4634A>C (p.Asn1545Thr)
c.1337A>C (p.Asn446Thr)
c.1382A>C (p.Asn461Thr)
c.4838A>C (p.Asn1613Thr)
c.1162A>C
c.1349A>C (p.Asn450Thr)
c.*4558A>C (n.*4558A>C)
c.1088A>C (p.Asn363Thr)
c.5-7188A>C (n.5-7188A>C)
c.248A>C (p.Asn83Thr)
c.-98-20949A>C (n.-98-20949A>C)
n.4911A>C
n.4952A>C
17g.43071139T=CA2260772951BRCA1c.4772A= (p.Asn1591=)
c.4775A= (p.Asn1592=)
c.4649A= (p.Asn1550=)
c.4769A= (p.Asn1590=)
c.4697A= (p.Asn1566=)
c.1463A= (p.Asn488=)
c.1325A= (p.Asn442=)
c.3887A= (p.Asn1296=)
c.4652A= (p.Asn1551=)
c.4841A= (p.Asn1614=)
c.4634A= (p.Asn1545=)
c.1337A= (p.Asn446=)
c.1382A= (p.Asn461=)
c.4838A= (p.Asn1613=)
c.1162A=
c.1349A= (p.Asn450=)
c.*4558A= (n.*4558A=)
c.1088A= (p.Asn363=)
c.5-7188A= (n.5-7188A=)
c.248A= (p.Asn83=)
c.-98-20949A= (n.-98-20949A=)
n.4911A=
n.4952A=
17g.43071140delCA2695225909BRCA1c.4772del (p.Asn1591ThrfsTer9)
c.4775del (p.Asn1592ThrfsTer9)
c.4649del (p.Asn1550ThrfsTer9)
c.4769del (p.Asn1590ThrfsTer9)
c.4697del (p.Asn1566ThrfsTer9)
c.1463del (p.Asn488ThrfsTer9)
c.1325del (p.Asn442ThrfsTer9)
c.3887del (p.Asn1296ThrfsTer9)
c.4652del (p.Asn1551ThrfsTer9)
c.4841del (p.Asn1614ThrfsTer9)
c.4634del (p.Asn1545ThrfsTer9)
c.1337del (p.Asn446ThrfsTer9)
c.1382del (p.Asn461ThrfsTer9)
c.4838del (p.Asn1613ThrfsTer9)
c.1162del
c.1349del (p.Asn450ThrfsTer9)
c.*4558del (n.*4558del)
c.1088del (p.Asn363ThrfsTer9)
c.5-7188del (n.5-7188del)
c.248del (p.Asn83ThrfsTer9)
c.-98-20949del (n.-98-20949del)
n.4911del
n.4952del
17g.43071140T>ACA10591965BRCA1c.4771A>T (p.Asn1591Tyr)
c.4774A>T (p.Asn1592Tyr)
c.4648A>T (p.Asn1550Tyr)
c.4768A>T (p.Asn1590Tyr)
c.4696A>T (p.Asn1566Tyr)
c.1462A>T (p.Asn488Tyr)
c.1324A>T (p.Asn442Tyr)
c.3886A>T (p.Asn1296Tyr)
c.4651A>T (p.Asn1551Tyr)
c.4840A>T (p.Asn1614Tyr)
c.4633A>T (p.Asn1545Tyr)
c.1336A>T (p.Asn446Tyr)
c.1381A>T (p.Asn461Tyr)
c.4837A>T (p.Asn1613Tyr)
c.1161A>T
c.1348A>T (p.Asn450Tyr)
c.*4557A>T (n.*4557A>T)
c.1087A>T (p.Asn363Tyr)
c.5-7189A>T (n.5-7189A>T)
c.247A>T (p.Asn83Tyr)
c.-98-20950A>T (n.-98-20950A>T)
n.4910A>T
n.4951A>T
 dbSNP
17g.43071140T>CCA10591966BRCA1c.4771A>G (p.Asn1591Asp)
c.4774A>G (p.Asn1592Asp)
c.4648A>G (p.Asn1550Asp)
c.4768A>G (p.Asn1590Asp)
c.4696A>G (p.Asn1566Asp)
c.1462A>G (p.Asn488Asp)
c.1324A>G (p.Asn442Asp)
c.3886A>G (p.Asn1296Asp)
c.4651A>G (p.Asn1551Asp)
c.4840A>G (p.Asn1614Asp)
c.4633A>G (p.Asn1545Asp)
c.1336A>G (p.Asn446Asp)
c.1381A>G (p.Asn461Asp)
c.4837A>G (p.Asn1613Asp)
c.1161A>G
c.1348A>G (p.Asn450Asp)
c.*4557A>G (n.*4557A>G)
c.1087A>G (p.Asn363Asp)
c.5-7189A>G (n.5-7189A>G)
c.247A>G (p.Asn83Asp)
c.-98-20950A>G (n.-98-20950A>G)
n.4910A>G
n.4951A>G
 gnomAD v4
17g.43071140T>GCA10591967BRCA1c.4771A>C (p.Asn1591His)
c.4774A>C (p.Asn1592His)
c.4648A>C (p.Asn1550His)
c.4768A>C (p.Asn1590His)
c.4696A>C (p.Asn1566His)
c.1462A>C (p.Asn488His)
c.1324A>C (p.Asn442His)
c.3886A>C (p.Asn1296His)
c.4651A>C (p.Asn1551His)
c.4840A>C (p.Asn1614His)
c.4633A>C (p.Asn1545His)
c.1336A>C (p.Asn446His)
c.1381A>C (p.Asn461His)
c.4837A>C (p.Asn1613His)
c.1161A>C
c.1348A>C (p.Asn450His)
c.*4557A>C (n.*4557A>C)
c.1087A>C (p.Asn363His)
c.5-7189A>C (n.5-7189A>C)
c.247A>C (p.Asn83His)
c.-98-20950A>C (n.-98-20950A>C)
n.4910A>C
n.4951A>C
 ClinVar dbSNP gnomAD v4
17g.43071140T=CA2260772952BRCA1c.4771A= (p.Asn1591=)
c.4774A= (p.Asn1592=)
c.4648A= (p.Asn1550=)
c.4768A= (p.Asn1590=)
c.4696A= (p.Asn1566=)
c.1462A= (p.Asn488=)
c.1324A= (p.Asn442=)
c.3886A= (p.Asn1296=)
c.4651A= (p.Asn1551=)
c.4840A= (p.Asn1614=)
c.4633A= (p.Asn1545=)
c.1336A= (p.Asn446=)
c.1381A= (p.Asn461=)
c.4837A= (p.Asn1613=)
c.1161A=
c.1348A= (p.Asn450=)
c.*4557A= (n.*4557A=)
c.1087A= (p.Asn363=)
c.5-7189A= (n.5-7189A=)
c.247A= (p.Asn83=)
c.-98-20950A= (n.-98-20950A=)
n.4910A=
n.4951A=
17g.43071141G>ACA500231850BRCA1c.4770C>T (p.Gly1590=)
c.4773C>T (p.Gly1591=)
c.4647C>T (p.Gly1549=)
c.4767C>T (p.Gly1589=)
c.4695C>T (p.Gly1565=)
c.1461C>T (p.Gly487=)
c.1323C>T (p.Gly441=)
c.3885C>T (p.Gly1295=)
c.4650C>T (p.Gly1550=)
c.4839C>T (p.Gly1613=)
c.4632C>T (p.Gly1544=)
c.1335C>T (p.Gly445=)
c.1380C>T (p.Gly460=)
c.4836C>T (p.Gly1612=)
c.1160C>T
c.1347C>T (p.Gly449=)
c.*4556C>T (n.*4556C>T)
c.1086C>T (p.Gly362=)
c.5-7190C>T (n.5-7190C>T)
c.246C>T (p.Gly82=)
c.-98-20951C>T (n.-98-20951C>T)
n.4909C>T
n.4950C>T
 ClinVar dbSNP
17g.43071141G>CCA500231848BRCA1c.4770C>G (p.Gly1590=)
c.4773C>G (p.Gly1591=)
c.4647C>G (p.Gly1549=)
c.4767C>G (p.Gly1589=)
c.4695C>G (p.Gly1565=)
c.1461C>G (p.Gly487=)
c.1323C>G (p.Gly441=)
c.3885C>G (p.Gly1295=)
c.4650C>G (p.Gly1550=)
c.4839C>G (p.Gly1613=)
c.4632C>G (p.Gly1544=)
c.1335C>G (p.Gly445=)
c.1380C>G (p.Gly460=)
c.4836C>G (p.Gly1612=)
c.1160C>G
c.1347C>G (p.Gly449=)
c.*4556C>G (n.*4556C>G)
c.1086C>G (p.Gly362=)
c.5-7190C>G (n.5-7190C>G)
c.246C>G (p.Gly82=)
c.-98-20951C>G (n.-98-20951C>G)
n.4909C>G
n.4950C>G
 ClinVar
17g.43071141G>TCA500231849BRCA1c.4770C>A (p.Gly1590=)
c.4773C>A (p.Gly1591=)
c.4647C>A (p.Gly1549=)
c.4767C>A (p.Gly1589=)
c.4695C>A (p.Gly1565=)
c.1461C>A (p.Gly487=)
c.1323C>A (p.Gly441=)
c.3885C>A (p.Gly1295=)
c.4650C>A (p.Gly1550=)
c.4839C>A (p.Gly1613=)
c.4632C>A (p.Gly1544=)
c.1335C>A (p.Gly445=)
c.1380C>A (p.Gly460=)
c.4836C>A (p.Gly1612=)
c.1160C>A
c.1347C>A (p.Gly449=)
c.*4556C>A (n.*4556C>A)
c.1086C>A (p.Gly362=)
c.5-7190C>A (n.5-7190C>A)
c.246C>A (p.Gly82=)
c.-98-20951C>A (n.-98-20951C>A)
n.4909C>A
n.4950C>A
17g.43071142C>ACA10591968BRCA1c.4769G>T (p.Gly1590Val)
c.4772G>T (p.Gly1591Val)
c.4646G>T (p.Gly1549Val)
c.4766G>T (p.Gly1589Val)
c.4694G>T (p.Gly1565Val)
c.1460G>T (p.Gly487Val)
c.1322G>T (p.Gly441Val)
c.3884G>T (p.Gly1295Val)
c.4649G>T (p.Gly1550Val)
c.4838G>T (p.Gly1613Val)
c.4631G>T (p.Gly1544Val)
c.1334G>T (p.Gly445Val)
c.1379G>T (p.Gly460Val)
c.4835G>T (p.Gly1612Val)
c.1159G>T
c.1346G>T (p.Gly449Val)
c.*4555G>T (n.*4555G>T)
c.1085G>T (p.Gly362Val)
c.5-7191G>T (n.5-7191G>T)
c.245G>T (p.Gly82Val)
c.-98-20952G>T (n.-98-20952G>T)
n.4908G>T
n.4949G>T
 dbSNP
17g.43071142C=CA2260772953BRCA1c.4769G= (p.Gly1590=)
c.4772G= (p.Gly1591=)
c.4646G= (p.Gly1549=)
c.4766G= (p.Gly1589=)
c.4694G= (p.Gly1565=)
c.1460G= (p.Gly487=)
c.1322G= (p.Gly441=)
c.3884G= (p.Gly1295=)
c.4649G= (p.Gly1550=)
c.4838G= (p.Gly1613=)
c.4631G= (p.Gly1544=)
c.1334G= (p.Gly445=)
c.1379G= (p.Gly460=)
c.4835G= (p.Gly1612=)
c.1159G=
c.1346G= (p.Gly449=)
c.*4555G= (n.*4555G=)
c.1085G= (p.Gly362=)
c.5-7191G= (n.5-7191G=)
c.245G= (p.Gly82=)
c.-98-20952G= (n.-98-20952G=)
n.4908G=
n.4949G=
17g.43071142C>GCA10591969BRCA1c.4769G>C (p.Gly1590Ala)
c.4772G>C (p.Gly1591Ala)
c.4646G>C (p.Gly1549Ala)
c.4766G>C (p.Gly1589Ala)
c.4694G>C (p.Gly1565Ala)
c.1460G>C (p.Gly487Ala)
c.1322G>C (p.Gly441Ala)
c.3884G>C (p.Gly1295Ala)
c.4649G>C (p.Gly1550Ala)
c.4838G>C (p.Gly1613Ala)
c.4631G>C (p.Gly1544Ala)
c.1334G>C (p.Gly445Ala)
c.1379G>C (p.Gly460Ala)
c.4835G>C (p.Gly1612Ala)
c.1159G>C
c.1346G>C (p.Gly449Ala)
c.*4555G>C (n.*4555G>C)
c.1085G>C (p.Gly362Ala)
c.5-7191G>C (n.5-7191G>C)
c.245G>C (p.Gly82Ala)
c.-98-20952G>C (n.-98-20952G>C)
n.4908G>C
n.4949G>C
 dbSNP
17g.43071142C>TCA10591970BRCA1c.4769G>A (p.Gly1590Asp)
c.4772G>A (p.Gly1591Asp)
c.4646G>A (p.Gly1549Asp)
c.4766G>A (p.Gly1589Asp)
c.4694G>A (p.Gly1565Asp)
c.1460G>A (p.Gly487Asp)
c.1322G>A (p.Gly441Asp)
c.3884G>A (p.Gly1295Asp)
c.4649G>A (p.Gly1550Asp)
c.4838G>A (p.Gly1613Asp)
c.4631G>A (p.Gly1544Asp)
c.1334G>A (p.Gly445Asp)
c.1379G>A (p.Gly460Asp)
c.4835G>A (p.Gly1612Asp)
c.1159G>A
c.1346G>A (p.Gly449Asp)
c.*4555G>A (n.*4555G>A)
c.1085G>A (p.Gly362Asp)
c.5-7191G>A (n.5-7191G>A)
c.245G>A (p.Gly82Asp)
c.-98-20952G>A (n.-98-20952G>A)
n.4908G>A
n.4949G>A
 ClinVar dbSNP
17g.43071142_43071143delinsCCCA2260772954BRCA1c.4768_4769delinsGG (p.Gly1590=)
c.4771_4772delinsGG (p.Gly1591=)
c.4645_4646delinsGG (p.Gly1549=)
c.4765_4766delinsGG (p.Gly1589=)
c.4693_4694delinsGG (p.Gly1565=)
c.1459_1460delinsGG (p.Gly487=)
c.1321_1322delinsGG (p.Gly441=)
c.3883_3884delinsGG (p.Gly1295=)
c.4648_4649delinsGG (p.Gly1550=)
c.4837_4838delinsGG (p.Gly1613=)
c.4630_4631delinsGG (p.Gly1544=)
c.1333_1334delinsGG (p.Gly445=)
c.1378_1379delinsGG (p.Gly460=)
c.4834_4835delinsGG (p.Gly1612=)
c.1158_1159delinsGG
c.1345_1346delinsGG (p.Gly449=)
c.*4554_*4555delinsGG (n.*4554_*4555delinsGG)
c.1084_1085delinsGG (p.Gly362=)
c.5-7192_5-7191delinsGG (n.5-7192_5-7191delinsGG)
c.244_245delinsGG (p.Gly82=)
c.-98-20953_-98-20952delinsGG (n.-98-20953_-98-20952delinsGG)
n.4907_4908delinsGG
n.4948_4949delinsGG
17g.43071142_43071143delinsTTCA915950109BRCA1c.4768_4769delinsAA (p.Gly1590Asn)
c.4771_4772delinsAA (p.Gly1591Asn)
c.4645_4646delinsAA (p.Gly1549Asn)
c.4765_4766delinsAA (p.Gly1589Asn)
c.4693_4694delinsAA (p.Gly1565Asn)
c.1459_1460delinsAA (p.Gly487Asn)
c.1321_1322delinsAA (p.Gly441Asn)
c.3883_3884delinsAA (p.Gly1295Asn)
c.4648_4649delinsAA (p.Gly1550Asn)
c.4837_4838delinsAA (p.Gly1613Asn)
c.4630_4631delinsAA (p.Gly1544Asn)
c.1333_1334delinsAA (p.Gly445Asn)
c.1378_1379delinsAA (p.Gly460Asn)
c.4834_4835delinsAA (p.Gly1612Asn)
c.1158_1159delinsAA
c.1345_1346delinsAA (p.Gly449Asn)
c.*4554_*4555delinsAA (n.*4554_*4555delinsAA)
c.1084_1085delinsAA (p.Gly362Asn)
c.5-7192_5-7191delinsAA (n.5-7192_5-7191delinsAA)
c.244_245delinsAA (p.Gly82Asn)
c.-98-20953_-98-20952delinsAA (n.-98-20953_-98-20952delinsAA)
n.4907_4908delinsAA
n.4948_4949delinsAA
 ClinVar dbSNP
17g.43071143C>ACA10591971BRCA1c.4768G>T (p.Gly1590Cys)
c.4771G>T (p.Gly1591Cys)
c.4645G>T (p.Gly1549Cys)
c.4765G>T (p.Gly1589Cys)
c.4693G>T (p.Gly1565Cys)
c.1459G>T (p.Gly487Cys)
c.1321G>T (p.Gly441Cys)
c.3883G>T (p.Gly1295Cys)
c.4648G>T (p.Gly1550Cys)
c.4837G>T (p.Gly1613Cys)
c.4630G>T (p.Gly1544Cys)
c.1333G>T (p.Gly445Cys)
c.1378G>T (p.Gly460Cys)
c.4834G>T (p.Gly1612Cys)
c.1158G>T
c.1345G>T (p.Gly449Cys)
c.*4554G>T (n.*4554G>T)
c.1084G>T (p.Gly362Cys)
c.5-7192G>T (n.5-7192G>T)
c.244G>T (p.Gly82Cys)
c.-98-20953G>T (n.-98-20953G>T)
n.4907G>T
n.4948G>T
 dbSNP
17g.43071143C=CA2260772955BRCA1c.4768G= (p.Gly1590=)
c.4771G= (p.Gly1591=)
c.4645G= (p.Gly1549=)
c.4765G= (p.Gly1589=)
c.4693G= (p.Gly1565=)
c.1459G= (p.Gly487=)
c.1321G= (p.Gly441=)
c.3883G= (p.Gly1295=)
c.4648G= (p.Gly1550=)
c.4837G= (p.Gly1613=)
c.4630G= (p.Gly1544=)
c.1333G= (p.Gly445=)
c.1378G= (p.Gly460=)
c.4834G= (p.Gly1612=)
c.1158G=
c.1345G= (p.Gly449=)
c.*4554G= (n.*4554G=)
c.1084G= (p.Gly362=)
c.5-7192G= (n.5-7192G=)
c.244G= (p.Gly82=)
c.-98-20953G= (n.-98-20953G=)
n.4907G=
n.4948G=
17g.43071143C>GCA10591972BRCA1c.4768G>C (p.Gly1590Arg)
c.4771G>C (p.Gly1591Arg)
c.4645G>C (p.Gly1549Arg)
c.4765G>C (p.Gly1589Arg)
c.4693G>C (p.Gly1565Arg)
c.1459G>C (p.Gly487Arg)
c.1321G>C (p.Gly441Arg)
c.3883G>C (p.Gly1295Arg)
c.4648G>C (p.Gly1550Arg)
c.4837G>C (p.Gly1613Arg)
c.4630G>C (p.Gly1544Arg)
c.1333G>C (p.Gly445Arg)
c.1378G>C (p.Gly460Arg)
c.4834G>C (p.Gly1612Arg)
c.1158G>C
c.1345G>C (p.Gly449Arg)
c.*4554G>C (n.*4554G>C)
c.1084G>C (p.Gly362Arg)
c.5-7192G>C (n.5-7192G>C)
c.244G>C (p.Gly82Arg)
c.-98-20953G>C (n.-98-20953G>C)
n.4907G>C
n.4948G>C
 dbSNP
17g.43071143C>TCA003015BRCA1c.4768G>A (p.Gly1590Ser)
c.4771G>A (p.Gly1591Ser)
c.4645G>A (p.Gly1549Ser)
c.4765G>A (p.Gly1589Ser)
c.4693G>A (p.Gly1565Ser)
c.1459G>A (p.Gly487Ser)
c.1321G>A (p.Gly441Ser)
c.3883G>A (p.Gly1295Ser)
c.4648G>A (p.Gly1550Ser)
c.4837G>A (p.Gly1613Ser)
c.4630G>A (p.Gly1544Ser)
c.1333G>A (p.Gly445Ser)
c.1378G>A (p.Gly460Ser)
c.4834G>A (p.Gly1612Ser)
c.1158G>A
c.1345G>A (p.Gly449Ser)
c.*4554G>A (n.*4554G>A)
c.1084G>A (p.Gly362Ser)
c.5-7192G>A (n.5-7192G>A)
c.244G>A (p.Gly82Ser)
c.-98-20953G>A (n.-98-20953G>A)
n.4907G>A
n.4948G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43071144A>CCA500231851BRCA1c.4767T>G (p.Val1589=)
c.4770T>G (p.Val1590=)
c.4644T>G (p.Val1548=)
c.4764T>G (p.Val1588=)
c.4692T>G (p.Val1564=)
c.1458T>G (p.Val486=)
c.1320T>G (p.Val440=)
c.3882T>G (p.Val1294=)
c.4647T>G (p.Val1549=)
c.4836T>G (p.Val1612=)
c.4629T>G (p.Val1543=)
c.1332T>G (p.Val444=)
c.1377T>G (p.Val459=)
c.4833T>G (p.Val1611=)
c.1157T>G
c.1344T>G (p.Val448=)
c.*4553T>G (n.*4553T>G)
c.1083T>G (p.Val361=)
c.5-7193T>G (n.5-7193T>G)
c.243T>G (p.Val81=)
c.-98-20954T>G (n.-98-20954T>G)
n.4906T>G
n.4947T>G
 dbSNP
17g.43071144A>GCA500231852BRCA1c.4767T>C (p.Val1589=)
c.4770T>C (p.Val1590=)
c.4644T>C (p.Val1548=)
c.4764T>C (p.Val1588=)
c.4692T>C (p.Val1564=)
c.1458T>C (p.Val486=)
c.1320T>C (p.Val440=)
c.3882T>C (p.Val1294=)
c.4647T>C (p.Val1549=)
c.4836T>C (p.Val1612=)
c.4629T>C (p.Val1543=)
c.1332T>C (p.Val444=)
c.1377T>C (p.Val459=)
c.4833T>C (p.Val1611=)
c.1157T>C
c.1344T>C (p.Val448=)
c.*4553T>C (n.*4553T>C)
c.1083T>C (p.Val361=)
c.5-7193T>C (n.5-7193T>C)
c.243T>C (p.Val81=)
c.-98-20954T>C (n.-98-20954T>C)
n.4906T>C
n.4947T>C
 ClinVar dbSNP
17g.43071144A>TCA500231853BRCA1c.4767T>A (p.Val1589=)
c.4770T>A (p.Val1590=)
c.4644T>A (p.Val1548=)
c.4764T>A (p.Val1588=)
c.4692T>A (p.Val1564=)
c.1458T>A (p.Val486=)
c.1320T>A (p.Val440=)
c.3882T>A (p.Val1294=)
c.4647T>A (p.Val1549=)
c.4836T>A (p.Val1612=)
c.4629T>A (p.Val1543=)
c.1332T>A (p.Val444=)
c.1377T>A (p.Val459=)
c.4833T>A (p.Val1611=)
c.1157T>A
c.1344T>A (p.Val448=)
c.*4553T>A (n.*4553T>A)
c.1083T>A (p.Val361=)
c.5-7193T>A (n.5-7193T>A)
c.243T>A (p.Val81=)
c.-98-20954T>A (n.-98-20954T>A)
n.4906T>A
n.4947T>A
 dbSNP
17g.43071145A=CA2260772956BRCA1c.4766T= (p.Val1589=)
c.4769T= (p.Val1590=)
c.4643T= (p.Val1548=)
c.4763T= (p.Val1588=)
c.4691T= (p.Val1564=)
c.1457T= (p.Val486=)
c.1319T= (p.Val440=)
c.3881T= (p.Val1294=)
c.4646T= (p.Val1549=)
c.4835T= (p.Val1612=)
c.4628T= (p.Val1543=)
c.1331T= (p.Val444=)
c.1376T= (p.Val459=)
c.4832T= (p.Val1611=)
c.1156T=
c.1343T= (p.Val448=)
c.*4552T= (n.*4552T=)
c.1082T= (p.Val361=)
c.5-7194T= (n.5-7194T=)
c.242T= (p.Val81=)
c.-98-20955T= (n.-98-20955T=)
n.4905T=
n.4946T=
17g.43071145A>CCA10591973BRCA1c.4766T>G (p.Val1589Gly)
c.4769T>G (p.Val1590Gly)
c.4643T>G (p.Val1548Gly)
c.4763T>G (p.Val1588Gly)
c.4691T>G (p.Val1564Gly)
c.1457T>G (p.Val486Gly)
c.1319T>G (p.Val440Gly)
c.3881T>G (p.Val1294Gly)
c.4646T>G (p.Val1549Gly)
c.4835T>G (p.Val1612Gly)
c.4628T>G (p.Val1543Gly)
c.1331T>G (p.Val444Gly)
c.1376T>G (p.Val459Gly)
c.4832T>G (p.Val1611Gly)
c.1156T>G
c.1343T>G (p.Val448Gly)
c.*4552T>G (n.*4552T>G)
c.1082T>G (p.Val361Gly)
c.5-7194T>G (n.5-7194T>G)
c.242T>G (p.Val81Gly)
c.-98-20955T>G (n.-98-20955T>G)
n.4905T>G
n.4946T>G
 ClinVar dbSNP
17g.43071145A>GCA053026BRCA1c.4766T>C (p.Val1589Ala)
c.4769T>C (p.Val1590Ala)
c.4643T>C (p.Val1548Ala)
c.4763T>C (p.Val1588Ala)
c.4691T>C (p.Val1564Ala)
c.1457T>C (p.Val486Ala)
c.1319T>C (p.Val440Ala)
c.3881T>C (p.Val1294Ala)
c.4646T>C (p.Val1549Ala)
c.4835T>C (p.Val1612Ala)
c.4628T>C (p.Val1543Ala)
c.1331T>C (p.Val444Ala)
c.1376T>C (p.Val459Ala)
c.4832T>C (p.Val1611Ala)
c.1156T>C
c.1343T>C (p.Val448Ala)
c.*4552T>C (n.*4552T>C)
c.1082T>C (p.Val361Ala)
c.5-7194T>C (n.5-7194T>C)
c.242T>C (p.Val81Ala)
c.-98-20955T>C (n.-98-20955T>C)
n.4905T>C
n.4946T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43071145A>TCA10591974BRCA1c.4766T>A (p.Val1589Asp)
c.4769T>A (p.Val1590Asp)
c.4643T>A (p.Val1548Asp)
c.4763T>A (p.Val1588Asp)
c.4691T>A (p.Val1564Asp)
c.1457T>A (p.Val486Asp)
c.1319T>A (p.Val440Asp)
c.3881T>A (p.Val1294Asp)
c.4646T>A (p.Val1549Asp)
c.4835T>A (p.Val1612Asp)
c.4628T>A (p.Val1543Asp)
c.1331T>A (p.Val444Asp)
c.1376T>A (p.Val459Asp)
c.4832T>A (p.Val1611Asp)
c.1156T>A
c.1343T>A (p.Val448Asp)
c.*4552T>A (n.*4552T>A)
c.1082T>A (p.Val361Asp)
c.5-7194T>A (n.5-7194T>A)
c.242T>A (p.Val81Asp)
c.-98-20955T>A (n.-98-20955T>A)
n.4905T>A
n.4946T>A
 dbSNP
17g.43071146delCA2573154035BRCA1c.4765del (p.Val1589LeufsTer11)
c.4768del (p.Val1590LeufsTer11)
c.4642del (p.Val1548LeufsTer11)
c.4762del (p.Val1588LeufsTer11)
c.4690del (p.Val1564LeufsTer11)
c.1456del (p.Val486LeufsTer11)
c.1318del (p.Val440LeufsTer11)
c.3880del (p.Val1294LeufsTer11)
c.4645del (p.Val1549LeufsTer11)
c.4834del (p.Val1612LeufsTer11)
c.4627del (p.Val1543LeufsTer11)
c.1330del (p.Val444LeufsTer11)
c.1375del (p.Val459LeufsTer11)
c.4831del (p.Val1611LeufsTer11)
c.1155del
c.1342del (p.Val448LeufsTer11)
c.*4551del (n.*4551del)
c.1081del (p.Val361LeufsTer11)
c.5-7195del (n.5-7195del)
c.241del (p.Val81LeufsTer11)
c.-98-20956del (n.-98-20956del)
n.4904del
n.4945del
 ClinVar dbSNP
17g.43071146C>ACA10591975BRCA1c.4765G>T (p.Val1589Phe)
c.4768G>T (p.Val1590Phe)
c.4642G>T (p.Val1548Phe)
c.4762G>T (p.Val1588Phe)
c.4690G>T (p.Val1564Phe)
c.1456G>T (p.Val486Phe)
c.1318G>T (p.Val440Phe)
c.3880G>T (p.Val1294Phe)
c.4645G>T (p.Val1549Phe)
c.4834G>T (p.Val1612Phe)
c.4627G>T (p.Val1543Phe)
c.1330G>T (p.Val444Phe)
c.1375G>T (p.Val459Phe)
c.4831G>T (p.Val1611Phe)
c.1155G>T
c.1342G>T (p.Val448Phe)
c.*4551G>T (n.*4551G>T)
c.1081G>T (p.Val361Phe)
c.5-7195G>T (n.5-7195G>T)
c.241G>T (p.Val81Phe)
c.-98-20956G>T (n.-98-20956G>T)
n.4904G>T
n.4945G>T
 dbSNP
17g.43071146C>GCA10591976BRCA1c.4765G>C (p.Val1589Leu)
c.4768G>C (p.Val1590Leu)
c.4642G>C (p.Val1548Leu)
c.4762G>C (p.Val1588Leu)
c.4690G>C (p.Val1564Leu)
c.1456G>C (p.Val486Leu)
c.1318G>C (p.Val440Leu)
c.3880G>C (p.Val1294Leu)
c.4645G>C (p.Val1549Leu)
c.4834G>C (p.Val1612Leu)
c.4627G>C (p.Val1543Leu)
c.1330G>C (p.Val444Leu)
c.1375G>C (p.Val459Leu)
c.4831G>C (p.Val1611Leu)
c.1155G>C
c.1342G>C (p.Val448Leu)
c.*4551G>C (n.*4551G>C)
c.1081G>C (p.Val361Leu)
c.5-7195G>C (n.5-7195G>C)
c.241G>C (p.Val81Leu)
c.-98-20956G>C (n.-98-20956G>C)
n.4904G>C
n.4945G>C
 dbSNP
17g.43071146C>TCA10591977BRCA1c.4765G>A (p.Val1589Ile)
c.4768G>A (p.Val1590Ile)
c.4642G>A (p.Val1548Ile)
c.4762G>A (p.Val1588Ile)
c.4690G>A (p.Val1564Ile)
c.1456G>A (p.Val486Ile)
c.1318G>A (p.Val440Ile)
c.3880G>A (p.Val1294Ile)
c.4645G>A (p.Val1549Ile)
c.4834G>A (p.Val1612Ile)
c.4627G>A (p.Val1543Ile)
c.1330G>A (p.Val444Ile)
c.1375G>A (p.Val459Ile)
c.4831G>A (p.Val1611Ile)
c.1155G>A
c.1342G>A (p.Val448Ile)
c.*4551G>A (n.*4551G>A)
c.1081G>A (p.Val361Ile)
c.5-7195G>A (n.5-7195G>A)
c.241G>A (p.Val81Ile)
c.-98-20956G>A (n.-98-20956G>A)
n.4904G>A
n.4945G>A
 ClinVar
17g.43071147A=CA2260772957BRCA1c.4764T= (p.Arg1588=)
c.4767T= (p.Arg1589=)
c.4641T= (p.Arg1547=)
c.4761T= (p.Arg1587=)
c.4689T= (p.Arg1563=)
c.1455T= (p.Arg485=)
c.1317T= (p.Arg439=)
c.3879T= (p.Arg1293=)
c.4644T= (p.Arg1548=)
c.4833T= (p.Arg1611=)
c.4626T= (p.Arg1542=)
c.1329T= (p.Arg443=)
c.1374T= (p.Arg458=)
c.4830T= (p.Arg1610=)
c.1154T=
c.1341T= (p.Arg447=)
c.*4550T= (n.*4550T=)
c.1080T= (p.Arg360=)
c.5-7196T= (n.5-7196T=)
c.240T= (p.Arg80=)
c.-98-20957T= (n.-98-20957T=)
n.4903T=
n.4944T=
17g.43071147A>CCA003014BRCA1c.4764T>G (p.Arg1588=)
c.4767T>G (p.Arg1589=)
c.4641T>G (p.Arg1547=)
c.4761T>G (p.Arg1587=)
c.4689T>G (p.Arg1563=)
c.1455T>G (p.Arg485=)
c.1317T>G (p.Arg439=)
c.3879T>G (p.Arg1293=)
c.4644T>G (p.Arg1548=)
c.4833T>G (p.Arg1611=)
c.4626T>G (p.Arg1542=)
c.1329T>G (p.Arg443=)
c.1374T>G (p.Arg458=)
c.4830T>G (p.Arg1610=)
c.1154T>G
c.1341T>G (p.Arg447=)
c.*4550T>G (n.*4550T>G)
c.1080T>G (p.Arg360=)
c.5-7196T>G (n.5-7196T>G)
c.240T>G (p.Arg80=)
c.-98-20957T>G (n.-98-20957T>G)
n.4903T>G
n.4944T>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43071147A>GCA500231854BRCA1c.4764T>C (p.Arg1588=)
c.4767T>C (p.Arg1589=)
c.4641T>C (p.Arg1547=)
c.4761T>C (p.Arg1587=)
c.4689T>C (p.Arg1563=)
c.1455T>C (p.Arg485=)
c.1317T>C (p.Arg439=)
c.3879T>C (p.Arg1293=)
c.4644T>C (p.Arg1548=)
c.4833T>C (p.Arg1611=)
c.4626T>C (p.Arg1542=)
c.1329T>C (p.Arg443=)
c.1374T>C (p.Arg458=)
c.4830T>C (p.Arg1610=)
c.1154T>C
c.1341T>C (p.Arg447=)
c.*4550T>C (n.*4550T>C)
c.1080T>C (p.Arg360=)
c.5-7196T>C (n.5-7196T>C)
c.240T>C (p.Arg80=)
c.-98-20957T>C (n.-98-20957T>C)
n.4903T>C
n.4944T>C
 dbSNP
17g.43071147A>TCA500231855BRCA1c.4764T>A (p.Arg1588=)
c.4767T>A (p.Arg1589=)
c.4641T>A (p.Arg1547=)
c.4761T>A (p.Arg1587=)
c.4689T>A (p.Arg1563=)
c.1455T>A (p.Arg485=)
c.1317T>A (p.Arg439=)
c.3879T>A (p.Arg1293=)
c.4644T>A (p.Arg1548=)
c.4833T>A (p.Arg1611=)
c.4626T>A (p.Arg1542=)
c.1329T>A (p.Arg443=)
c.1374T>A (p.Arg458=)
c.4830T>A (p.Arg1610=)
c.1154T>A
c.1341T>A (p.Arg447=)
c.*4550T>A (n.*4550T>A)
c.1080T>A (p.Arg360=)
c.5-7196T>A (n.5-7196T>A)
c.240T>A (p.Arg80=)
c.-98-20957T>A (n.-98-20957T>A)
n.4903T>A
n.4944T>A
 ClinVar dbSNP
17g.43071148C>ACA10591978BRCA1c.4763G>T (p.Arg1588Leu)
c.4766G>T (p.Arg1589Leu)
c.4640G>T (p.Arg1547Leu)
c.4760G>T (p.Arg1587Leu)
c.4688G>T (p.Arg1563Leu)
c.1454G>T (p.Arg485Leu)
c.1316G>T (p.Arg439Leu)
c.3878G>T (p.Arg1293Leu)
c.4643G>T (p.Arg1548Leu)
c.4832G>T (p.Arg1611Leu)
c.4625G>T (p.Arg1542Leu)
c.1328G>T (p.Arg443Leu)
c.1373G>T (p.Arg458Leu)
c.4829G>T (p.Arg1610Leu)
c.1153G>T
c.1340G>T (p.Arg447Leu)
c.*4549G>T (n.*4549G>T)
c.1079G>T (p.Arg360Leu)
c.5-7197G>T (n.5-7197G>T)
c.239G>T (p.Arg80Leu)
c.-98-20958G>T (n.-98-20958G>T)
n.4902G>T
n.4943G>T
 dbSNP
17g.43071148C=CA2260772958BRCA1c.4763G= (p.Arg1588=)
c.4766G= (p.Arg1589=)
c.4640G= (p.Arg1547=)
c.4760G= (p.Arg1587=)
c.4688G= (p.Arg1563=)
c.1454G= (p.Arg485=)
c.1316G= (p.Arg439=)
c.3878G= (p.Arg1293=)
c.4643G= (p.Arg1548=)
c.4832G= (p.Arg1611=)
c.4625G= (p.Arg1542=)
c.1328G= (p.Arg443=)
c.1373G= (p.Arg458=)
c.4829G= (p.Arg1610=)
c.1153G=
c.1340G= (p.Arg447=)
c.*4549G= (n.*4549G=)
c.1079G= (p.Arg360=)
c.5-7197G= (n.5-7197G=)
c.239G= (p.Arg80=)
c.-98-20958G= (n.-98-20958G=)
n.4902G=
n.4943G=
17g.43071148C>GCA10591979BRCA1c.4763G>C (p.Arg1588Pro)
c.4766G>C (p.Arg1589Pro)
c.4640G>C (p.Arg1547Pro)
c.4760G>C (p.Arg1587Pro)
c.4688G>C (p.Arg1563Pro)
c.1454G>C (p.Arg485Pro)
c.1316G>C (p.Arg439Pro)
c.3878G>C (p.Arg1293Pro)
c.4643G>C (p.Arg1548Pro)
c.4832G>C (p.Arg1611Pro)
c.4625G>C (p.Arg1542Pro)
c.1328G>C (p.Arg443Pro)
c.1373G>C (p.Arg458Pro)
c.4829G>C (p.Arg1610Pro)
c.1153G>C
c.1340G>C (p.Arg447Pro)
c.*4549G>C (n.*4549G>C)
c.1079G>C (p.Arg360Pro)
c.5-7197G>C (n.5-7197G>C)
c.239G>C (p.Arg80Pro)
c.-98-20958G>C (n.-98-20958G>C)
n.4902G>C
n.4943G>C
 ClinVar dbSNP
17g.43071148C>TCA003013BRCA1c.4763G>A (p.Arg1588His)
c.4766G>A (p.Arg1589His)
c.4640G>A (p.Arg1547His)
c.4760G>A (p.Arg1587His)
c.4688G>A (p.Arg1563His)
c.1454G>A (p.Arg485His)
c.1316G>A (p.Arg439His)
c.3878G>A (p.Arg1293His)
c.4643G>A (p.Arg1548His)
c.4832G>A (p.Arg1611His)
c.4625G>A (p.Arg1542His)
c.1328G>A (p.Arg443His)
c.1373G>A (p.Arg458His)
c.4829G>A (p.Arg1610His)
c.1153G>A
c.1340G>A (p.Arg447His)
c.*4549G>A (n.*4549G>A)
c.1079G>A (p.Arg360His)
c.5-7197G>A (n.5-7197G>A)
c.239G>A (p.Arg80His)
c.-98-20958G>A (n.-98-20958G>A)
n.4902G>A
n.4943G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
17g.43071148_43071150delinsCGACA2260772959BRCA1c.4761_4763delinsTCG (p.Ala1587=)
c.4764_4766delinsTCG (p.Ala1588=)
c.4638_4640delinsTCG (p.Ala1546=)
c.4758_4760delinsTCG (p.Ala1586=)
c.4686_4688delinsTCG (p.Ala1562=)
c.1452_1454delinsTCG (p.Ala484=)
c.1314_1316delinsTCG (p.Ala438=)
c.3876_3878delinsTCG (p.Ala1292=)
c.4641_4643delinsTCG (p.Ala1547=)
c.4830_4832delinsTCG (p.Ala1610=)
c.4623_4625delinsTCG (p.Ala1541=)
c.1326_1328delinsTCG (p.Ala442=)
c.1371_1373delinsTCG (p.Ala457=)
c.4827_4829delinsTCG (p.Ala1609=)
c.1151_1153delinsTCG
c.1338_1340delinsTCG (p.Ala446=)
c.*4547_*4549delinsTCG (n.*4547_*4549delinsTCG)
c.1077_1079delinsTCG (p.Ala359=)
c.5-7199_5-7197delinsTCG (n.5-7199_5-7197delinsTCG)
c.237_239delinsTCG (p.Ala79=)
c.-98-20960_-98-20958delinsTCG (n.-98-20960_-98-20958delinsTCG)
n.4900_4902delinsTCG
n.4941_4943delinsTCG
17g.43071149G>ACA003012BRCA1c.4762C>T (p.Arg1588Cys)
c.4765C>T (p.Arg1589Cys)
c.4639C>T (p.Arg1547Cys)
c.4759C>T (p.Arg1587Cys)
c.4687C>T (p.Arg1563Cys)
c.1453C>T (p.Arg485Cys)
c.1315C>T (p.Arg439Cys)
c.3877C>T (p.Arg1293Cys)
c.4642C>T (p.Arg1548Cys)
c.4831C>T (p.Arg1611Cys)
c.4624C>T (p.Arg1542Cys)
c.1327C>T (p.Arg443Cys)
c.1372C>T (p.Arg458Cys)
c.4828C>T (p.Arg1610Cys)
c.1152C>T
c.1339C>T (p.Arg447Cys)
c.*4548C>T (n.*4548C>T)
c.1078C>T (p.Arg360Cys)
c.5-7198C>T (n.5-7198C>T)
c.238C>T (p.Arg80Cys)
c.-98-20959C>T (n.-98-20959C>T)
n.4901C>T
n.4942C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
17g.43071149G>CCA10591980BRCA1c.4762C>G (p.Arg1588Gly)
c.4765C>G (p.Arg1589Gly)
c.4639C>G (p.Arg1547Gly)
c.4759C>G (p.Arg1587Gly)
c.4687C>G (p.Arg1563Gly)
c.1453C>G (p.Arg485Gly)
c.1315C>G (p.Arg439Gly)
c.3877C>G (p.Arg1293Gly)
c.4642C>G (p.Arg1548Gly)
c.4831C>G (p.Arg1611Gly)
c.4624C>G (p.Arg1542Gly)
c.1327C>G (p.Arg443Gly)
c.1372C>G (p.Arg458Gly)
c.4828C>G (p.Arg1610Gly)
c.1152C>G
c.1339C>G (p.Arg447Gly)
c.*4548C>G (n.*4548C>G)
c.1078C>G (p.Arg360Gly)
c.5-7198C>G (n.5-7198C>G)
c.238C>G (p.Arg80Gly)
c.-98-20959C>G (n.-98-20959C>G)
n.4901C>G
n.4942C>G
 ClinVar dbSNP
17g.43071149G=CA2260772960BRCA1c.4762C= (p.Arg1588=)
c.4765C= (p.Arg1589=)
c.4639C= (p.Arg1547=)
c.4759C= (p.Arg1587=)
c.4687C= (p.Arg1563=)
c.1453C= (p.Arg485=)
c.1315C= (p.Arg439=)
c.3877C= (p.Arg1293=)
c.4642C= (p.Arg1548=)
c.4831C= (p.Arg1611=)
c.4624C= (p.Arg1542=)
c.1327C= (p.Arg443=)
c.1372C= (p.Arg458=)
c.4828C= (p.Arg1610=)
c.1152C=
c.1339C= (p.Arg447=)
c.*4548C= (n.*4548C=)
c.1078C= (p.Arg360=)
c.5-7198C= (n.5-7198C=)
c.238C= (p.Arg80=)
c.-98-20959C= (n.-98-20959C=)
n.4901C=
n.4942C=
17g.43071149G>TCA10591981BRCA1c.4762C>A (p.Arg1588Ser)
c.4765C>A (p.Arg1589Ser)
c.4639C>A (p.Arg1547Ser)
c.4759C>A (p.Arg1587Ser)
c.4687C>A (p.Arg1563Ser)
c.1453C>A (p.Arg485Ser)
c.1315C>A (p.Arg439Ser)
c.3877C>A (p.Arg1293Ser)
c.4642C>A (p.Arg1548Ser)
c.4831C>A (p.Arg1611Ser)
c.4624C>A (p.Arg1542Ser)
c.1327C>A (p.Arg443Ser)
c.1372C>A (p.Arg458Ser)
c.4828C>A (p.Arg1610Ser)
c.1152C>A
c.1339C>A (p.Arg447Ser)
c.*4548C>A (n.*4548C>A)
c.1078C>A (p.Arg360Ser)
c.5-7198C>A (n.5-7198C>A)
c.238C>A (p.Arg80Ser)
c.-98-20959C>A (n.-98-20959C>A)
n.4901C>A
n.4942C>A
17g.43071149_43071150delinsGACA2260772961BRCA1c.4761_4762delinsTC (p.Ala1587=)
c.4764_4765delinsTC (p.Ala1588=)
c.4638_4639delinsTC (p.Ala1546=)
c.4758_4759delinsTC (p.Ala1586=)
c.4686_4687delinsTC (p.Ala1562=)
c.1452_1453delinsTC (p.Ala484=)
c.1314_1315delinsTC (p.Ala438=)
c.3876_3877delinsTC (p.Ala1292=)
c.4641_4642delinsTC (p.Ala1547=)
c.4830_4831delinsTC (p.Ala1610=)
c.4623_4624delinsTC (p.Ala1541=)
c.1326_1327delinsTC (p.Ala442=)
c.1371_1372delinsTC (p.Ala457=)
c.4827_4828delinsTC (p.Ala1609=)
c.1151_1152delinsTC
c.1338_1339delinsTC (p.Ala446=)
c.*4547_*4548delinsTC (n.*4547_*4548delinsTC)
c.1077_1078delinsTC (p.Ala359=)
c.5-7199_5-7198delinsTC (n.5-7199_5-7198delinsTC)
c.237_238delinsTC (p.Ala79=)
c.-98-20960_-98-20959delinsTC (n.-98-20960_-98-20959delinsTC)
n.4900_4901delinsTC
n.4941_4942delinsTC
17g.43071150_43071151delCA003009BRCA1c.4761_4762del (p.Arg1588CysfsTer?)
c.4764_4765del (p.Arg1589CysfsTer?)
c.4638_4639del (p.Arg1547CysfsTer?)
c.4758_4759del (p.Arg1587CysfsTer?)
c.4686_4687del (p.Arg1563CysfsTer?)
c.1452_1453del (p.Arg485CysfsTer?)
c.1314_1315del (p.Arg439CysfsTer?)
c.3876_3877del (p.Arg1293CysfsTer?)
c.4641_4642del (p.Arg1548CysfsTer?)
c.4830_4831del (p.Arg1611CysfsTer?)
c.4623_4624del (p.Arg1542CysfsTer?)
c.1326_1327del (p.Arg443CysfsTer?)
c.1371_1372del (p.Arg458CysfsTer?)
c.4827_4828del (p.Arg1610CysfsTer?)
c.1151_1152del
c.1338_1339del (p.Arg447CysfsTer?)
c.*4547_*4548del (n.*4547_*4548del)
c.1077_1078del (p.Arg360CysfsTer?)
c.5-7199_5-7198del (n.5-7199_5-7198del)
c.237_238del (p.Arg80CysfsTer?)
c.-98-20960_-98-20959del (n.-98-20960_-98-20959del)
n.4900_4901del
n.4941_4942del
 ClinVar dbSNP
17g.43071150delCA003010BRCA1c.4761del (p.Arg1588ValfsTer12)
c.4764del (p.Arg1589ValfsTer12)
c.4638del (p.Arg1547ValfsTer12)
c.4758del (p.Arg1587ValfsTer12)
c.4686del (p.Arg1563ValfsTer12)
c.1452del (p.Arg485ValfsTer12)
c.1314del (p.Arg439ValfsTer12)
c.3876del (p.Arg1293ValfsTer12)
c.4641del (p.Arg1548ValfsTer12)
c.4830del (p.Arg1611ValfsTer12)
c.4623del (p.Arg1542ValfsTer12)
c.1326del (p.Arg443ValfsTer12)
c.1371del (p.Arg458ValfsTer12)
c.4827del (p.Arg1610ValfsTer12)
c.1151del
c.1338del (p.Arg447ValfsTer12)
c.*4547del (n.*4547del)
c.1077del (p.Arg360ValfsTer12)
c.5-7199del (n.5-7199del)
c.237del (p.Arg80ValfsTer12)
c.-98-20960del (n.-98-20960del)
n.4900del
n.4941del
 ClinVar dbSNP
17g.43071150A=CA2260772962BRCA1c.4761T= (p.Ala1587=)
c.4764T= (p.Ala1588=)
c.4638T= (p.Ala1546=)
c.4758T= (p.Ala1586=)
c.4686T= (p.Ala1562=)
c.1452T= (p.Ala484=)
c.1314T= (p.Ala438=)
c.3876T= (p.Ala1292=)
c.4641T= (p.Ala1547=)
c.4830T= (p.Ala1610=)
c.4623T= (p.Ala1541=)
c.1326T= (p.Ala442=)
c.1371T= (p.Ala457=)
c.4827T= (p.Ala1609=)
c.1151T=
c.1338T= (p.Ala446=)
c.*4547T= (n.*4547T=)
c.1077T= (p.Ala359=)
c.5-7199T= (n.5-7199T=)
c.237T= (p.Ala79=)
c.-98-20960T= (n.-98-20960T=)
n.4900T=
n.4941T=
17g.43071150A>CCA500231856BRCA1c.4761T>G (p.Ala1587=)
c.4764T>G (p.Ala1588=)
c.4638T>G (p.Ala1546=)
c.4758T>G (p.Ala1586=)
c.4686T>G (p.Ala1562=)
c.1452T>G (p.Ala484=)
c.1314T>G (p.Ala438=)
c.3876T>G (p.Ala1292=)
c.4641T>G (p.Ala1547=)
c.4830T>G (p.Ala1610=)
c.4623T>G (p.Ala1541=)
c.1326T>G (p.Ala442=)
c.1371T>G (p.Ala457=)
c.4827T>G (p.Ala1609=)
c.1151T>G
c.1338T>G (p.Ala446=)
c.*4547T>G (n.*4547T>G)
c.1077T>G (p.Ala359=)
c.5-7199T>G (n.5-7199T>G)
c.237T>G (p.Ala79=)
c.-98-20960T>G (n.-98-20960T>G)
n.4900T>G
n.4941T>G
17g.43071150A>GCA003011BRCA1c.4761T>C (p.Ala1587=)
c.4764T>C (p.Ala1588=)
c.4638T>C (p.Ala1546=)
c.4758T>C (p.Ala1586=)
c.4686T>C (p.Ala1562=)
c.1452T>C (p.Ala484=)
c.1314T>C (p.Ala438=)
c.3876T>C (p.Ala1292=)
c.4641T>C (p.Ala1547=)
c.4830T>C (p.Ala1610=)
c.4623T>C (p.Ala1541=)
c.1326T>C (p.Ala442=)
c.1371T>C (p.Ala457=)
c.4827T>C (p.Ala1609=)
c.1151T>C
c.1338T>C (p.Ala446=)
c.*4547T>C (n.*4547T>C)
c.1077T>C (p.Ala359=)
c.5-7199T>C (n.5-7199T>C)
c.237T>C (p.Ala79=)
c.-98-20960T>C (n.-98-20960T>C)
n.4900T>C
n.4941T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43071150A>TCA10580509BRCA1c.4761T>A (p.Ala1587=)
c.4764T>A (p.Ala1588=)
c.4638T>A (p.Ala1546=)
c.4758T>A (p.Ala1586=)
c.4686T>A (p.Ala1562=)
c.1452T>A (p.Ala484=)
c.1314T>A (p.Ala438=)
c.3876T>A (p.Ala1292=)
c.4641T>A (p.Ala1547=)
c.4830T>A (p.Ala1610=)
c.4623T>A (p.Ala1541=)
c.1326T>A (p.Ala442=)
c.1371T>A (p.Ala457=)
c.4827T>A (p.Ala1609=)
c.1151T>A
c.1338T>A (p.Ala446=)
c.*4547T>A (n.*4547T>A)
c.1077T>A (p.Ala359=)
c.5-7199T>A (n.5-7199T>A)
c.237T>A (p.Ala79=)
c.-98-20960T>A (n.-98-20960T>A)
n.4900T>A
n.4941T>A
 ClinVar dbSNP gnomAD v4
17g.43071151G>ACA052948BRCA1c.4760C>T (p.Ala1587Val)
c.4763C>T (p.Ala1588Val)
c.4637C>T (p.Ala1546Val)
c.4757C>T (p.Ala1586Val)
c.4685C>T (p.Ala1562Val)
c.1451C>T (p.Ala484Val)
c.1313C>T (p.Ala438Val)
c.3875C>T (p.Ala1292Val)
c.4640C>T (p.Ala1547Val)
c.4829C>T (p.Ala1610Val)
c.4622C>T (p.Ala1541Val)
c.1325C>T (p.Ala442Val)
c.1370C>T (p.Ala457Val)
c.4826C>T (p.Ala1609Val)
c.1150C>T
c.1337C>T (p.Ala446Val)
c.*4546C>T (n.*4546C>T)
c.1076C>T (p.Ala359Val)
c.5-7200C>T (n.5-7200C>T)
c.236C>T (p.Ala79Val)
c.-98-20961C>T (n.-98-20961C>T)
n.4899C>T
n.4940C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43071151G>CCA10591982BRCA1c.4760C>G (p.Ala1587Gly)
c.4763C>G (p.Ala1588Gly)
c.4637C>G (p.Ala1546Gly)
c.4757C>G (p.Ala1586Gly)
c.4685C>G (p.Ala1562Gly)
c.1451C>G (p.Ala484Gly)
c.1313C>G (p.Ala438Gly)
c.3875C>G (p.Ala1292Gly)
c.4640C>G (p.Ala1547Gly)
c.4829C>G (p.Ala1610Gly)
c.4622C>G (p.Ala1541Gly)
c.1325C>G (p.Ala442Gly)
c.1370C>G (p.Ala457Gly)
c.4826C>G (p.Ala1609Gly)
c.1150C>G
c.1337C>G (p.Ala446Gly)
c.*4546C>G (n.*4546C>G)
c.1076C>G (p.Ala359Gly)
c.5-7200C>G (n.5-7200C>G)
c.236C>G (p.Ala79Gly)
c.-98-20961C>G (n.-98-20961C>G)
n.4899C>G
n.4940C>G
 dbSNP
17g.43071151G=CA2260772963BRCA1c.4760C= (p.Ala1587=)
c.4763C= (p.Ala1588=)
c.4637C= (p.Ala1546=)
c.4757C= (p.Ala1586=)
c.4685C= (p.Ala1562=)
c.1451C= (p.Ala484=)
c.1313C= (p.Ala438=)
c.3875C= (p.Ala1292=)
c.4640C= (p.Ala1547=)
c.4829C= (p.Ala1610=)
c.4622C= (p.Ala1541=)
c.1325C= (p.Ala442=)
c.1370C= (p.Ala457=)
c.4826C= (p.Ala1609=)
c.1150C=
c.1337C= (p.Ala446=)
c.*4546C= (n.*4546C=)
c.1076C= (p.Ala359=)
c.5-7200C= (n.5-7200C=)
c.236C= (p.Ala79=)
c.-98-20961C= (n.-98-20961C=)
n.4899C=
n.4940C=
17g.43071151G>TCA10591983BRCA1c.4760C>A (p.Ala1587Asp)
c.4763C>A (p.Ala1588Asp)
c.4637C>A (p.Ala1546Asp)
c.4757C>A (p.Ala1586Asp)
c.4685C>A (p.Ala1562Asp)
c.1451C>A (p.Ala484Asp)
c.1313C>A (p.Ala438Asp)
c.3875C>A (p.Ala1292Asp)
c.4640C>A (p.Ala1547Asp)
c.4829C>A (p.Ala1610Asp)
c.4622C>A (p.Ala1541Asp)
c.1325C>A (p.Ala442Asp)
c.1370C>A (p.Ala457Asp)
c.4826C>A (p.Ala1609Asp)
c.1150C>A
c.1337C>A (p.Ala446Asp)
c.*4546C>A (n.*4546C>A)
c.1076C>A (p.Ala359Asp)
c.5-7200C>A (n.5-7200C>A)
c.236C>A (p.Ala79Asp)
c.-98-20961C>A (n.-98-20961C>A)
n.4899C>A
n.4940C>A
 dbSNP
17g.43071152C>ACA10591984BRCA1c.4759G>T (p.Ala1587Ser)
c.4762G>T (p.Ala1588Ser)
c.4636G>T (p.Ala1546Ser)
c.4756G>T (p.Ala1586Ser)
c.4684G>T (p.Ala1562Ser)
c.1450G>T (p.Ala484Ser)
c.1312G>T (p.Ala438Ser)
c.3874G>T (p.Ala1292Ser)
c.4639G>T (p.Ala1547Ser)
c.4828G>T (p.Ala1610Ser)
c.4621G>T (p.Ala1541Ser)
c.1324G>T (p.Ala442Ser)
c.1369G>T (p.Ala457Ser)
c.4825G>T (p.Ala1609Ser)
c.1149G>T
c.1336G>T (p.Ala446Ser)
c.*4545G>T (n.*4545G>T)
c.1075G>T (p.Ala359Ser)
c.5-7201G>T (n.5-7201G>T)
c.235G>T (p.Ala79Ser)
c.-98-20962G>T (n.-98-20962G>T)
n.4898G>T
n.4939G>T
 dbSNP
17g.43071152C>GCA10591985BRCA1c.4759G>C (p.Ala1587Pro)
c.4762G>C (p.Ala1588Pro)
c.4636G>C (p.Ala1546Pro)
c.4756G>C (p.Ala1586Pro)
c.4684G>C (p.Ala1562Pro)
c.1450G>C (p.Ala484Pro)
c.1312G>C (p.Ala438Pro)
c.3874G>C (p.Ala1292Pro)
c.4639G>C (p.Ala1547Pro)
c.4828G>C (p.Ala1610Pro)
c.4621G>C (p.Ala1541Pro)
c.1324G>C (p.Ala442Pro)
c.1369G>C (p.Ala457Pro)
c.4825G>C (p.Ala1609Pro)
c.1149G>C
c.1336G>C (p.Ala446Pro)
c.*4545G>C (n.*4545G>C)
c.1075G>C (p.Ala359Pro)
c.5-7201G>C (n.5-7201G>C)
c.235G>C (p.Ala79Pro)
c.-98-20962G>C (n.-98-20962G>C)
n.4898G>C
n.4939G>C
 dbSNP
17g.43071152C>TCA10591986BRCA1c.4759G>A (p.Ala1587Thr)
c.4762G>A (p.Ala1588Thr)
c.4636G>A (p.Ala1546Thr)
c.4756G>A (p.Ala1586Thr)
c.4684G>A (p.Ala1562Thr)
c.1450G>A (p.Ala484Thr)
c.1312G>A (p.Ala438Thr)
c.3874G>A (p.Ala1292Thr)
c.4639G>A (p.Ala1547Thr)
c.4828G>A (p.Ala1610Thr)
c.4621G>A (p.Ala1541Thr)
c.1324G>A (p.Ala442Thr)
c.1369G>A (p.Ala457Thr)
c.4825G>A (p.Ala1609Thr)
c.1149G>A
c.1336G>A (p.Ala446Thr)
c.*4545G>A (n.*4545G>A)
c.1075G>A (p.Ala359Thr)
c.5-7201G>A (n.5-7201G>A)
c.235G>A (p.Ala79Thr)
c.-98-20962G>A (n.-98-20962G>A)
n.4898G>A
n.4939G>A
 dbSNP
17g.43071153T>ACA500231857BRCA1c.4758A>T (p.Ser1586=)
c.4761A>T (p.Ser1587=)
c.4635A>T (p.Ser1545=)
c.4755A>T (p.Ser1585=)
c.4683A>T (p.Ser1561=)
c.1449A>T (p.Ser483=)
c.1311A>T (p.Ser437=)
c.3873A>T (p.Ser1291=)
c.4638A>T (p.Ser1546=)
c.4827A>T (p.Ser1609=)
c.4620A>T (p.Ser1540=)
c.1323A>T (p.Ser441=)
c.1368A>T (p.Ser456=)
c.4824A>T (p.Ser1608=)
c.1148A>T
c.1335A>T (p.Ser445=)
c.*4544A>T (n.*4544A>T)
c.1074A>T (p.Ser358=)
c.5-7202A>T (n.5-7202A>T)
c.234A>T (p.Ser78=)
c.-98-20963A>T (n.-98-20963A>T)
n.4897A>T
n.4938A>T
 dbSNP
17g.43071153T>CCA500231858BRCA1c.4758A>G (p.Ser1586=)
c.4761A>G (p.Ser1587=)
c.4635A>G (p.Ser1545=)
c.4755A>G (p.Ser1585=)
c.4683A>G (p.Ser1561=)
c.1449A>G (p.Ser483=)
c.1311A>G (p.Ser437=)
c.3873A>G (p.Ser1291=)
c.4638A>G (p.Ser1546=)
c.4827A>G (p.Ser1609=)
c.4620A>G (p.Ser1540=)
c.1323A>G (p.Ser441=)
c.1368A>G (p.Ser456=)
c.4824A>G (p.Ser1608=)
c.1148A>G
c.1335A>G (p.Ser445=)
c.*4544A>G (n.*4544A>G)
c.1074A>G (p.Ser358=)
c.5-7202A>G (n.5-7202A>G)
c.234A>G (p.Ser78=)
c.-98-20963A>G (n.-98-20963A>G)
n.4897A>G
n.4938A>G
 ClinVar dbSNP
17g.43071153T>GCA500231859BRCA1c.4758A>C (p.Ser1586=)
c.4761A>C (p.Ser1587=)
c.4635A>C (p.Ser1545=)
c.4755A>C (p.Ser1585=)
c.4683A>C (p.Ser1561=)
c.1449A>C (p.Ser483=)
c.1311A>C (p.Ser437=)
c.3873A>C (p.Ser1291=)
c.4638A>C (p.Ser1546=)
c.4827A>C (p.Ser1609=)
c.4620A>C (p.Ser1540=)
c.1323A>C (p.Ser441=)
c.1368A>C (p.Ser456=)
c.4824A>C (p.Ser1608=)
c.1148A>C
c.1335A>C (p.Ser445=)
c.*4544A>C (n.*4544A>C)
c.1074A>C (p.Ser358=)
c.5-7202A>C (n.5-7202A>C)
c.234A>C (p.Ser78=)
c.-98-20963A>C (n.-98-20963A>C)
n.4897A>C
n.4938A>C
17g.43071154G>ACA10591987BRCA1c.4757C>T (p.Ser1586Leu)
c.4760C>T (p.Ser1587Leu)
c.4634C>T (p.Ser1545Leu)
c.4754C>T (p.Ser1585Leu)
c.4682C>T (p.Ser1561Leu)
c.1448C>T (p.Ser483Leu)
c.1310C>T (p.Ser437Leu)
c.3872C>T (p.Ser1291Leu)
c.4637C>T (p.Ser1546Leu)
c.4826C>T (p.Ser1609Leu)
c.4619C>T (p.Ser1540Leu)
c.1322C>T (p.Ser441Leu)
c.1367C>T (p.Ser456Leu)
c.4823C>T (p.Ser1608Leu)
c.1147C>T
c.1334C>T (p.Ser445Leu)
c.*4543C>T (n.*4543C>T)
c.1073C>T (p.Ser358Leu)
c.5-7203C>T (n.5-7203C>T)
c.233C>T (p.Ser78Leu)
c.-98-20964C>T (n.-98-20964C>T)
n.4896C>T
n.4937C>T
 ClinVar dbSNP gnomAD v4
17g.43071154G>CCA003008BRCA1c.4757C>G (p.Ser1586Ter)
c.4760C>G (p.Ser1587Ter)
c.4634C>G (p.Ser1545Ter)
c.4754C>G (p.Ser1585Ter)
c.4682C>G (p.Ser1561Ter)
c.1448C>G (p.Ser483Ter)
c.1310C>G (p.Ser437Ter)
c.3872C>G (p.Ser1291Ter)
c.4637C>G (p.Ser1546Ter)
c.4826C>G (p.Ser1609Ter)
c.4619C>G (p.Ser1540Ter)
c.1322C>G (p.Ser441Ter)
c.1367C>G (p.Ser456Ter)
c.4823C>G (p.Ser1608Ter)
c.1147C>G
c.1334C>G (p.Ser445Ter)
c.*4543C>G (n.*4543C>G)
c.1073C>G (p.Ser358Ter)
c.5-7203C>G (n.5-7203C>G)
c.233C>G (p.Ser78Ter)
c.-98-20964C>G (n.-98-20964C>G)
n.4896C>G
n.4937C>G
 ClinVar dbSNP
17g.43071154G=CA2260772964BRCA1c.4757C= (p.Ser1586=)
c.4760C= (p.Ser1587=)
c.4634C= (p.Ser1545=)
c.4754C= (p.Ser1585=)
c.4682C= (p.Ser1561=)
c.1448C= (p.Ser483=)
c.1310C= (p.Ser437=)
c.3872C= (p.Ser1291=)
c.4637C= (p.Ser1546=)
c.4826C= (p.Ser1609=)
c.4619C= (p.Ser1540=)
c.1322C= (p.Ser441=)
c.1367C= (p.Ser456=)
c.4823C= (p.Ser1608=)
c.1147C=
c.1334C= (p.Ser445=)
c.*4543C= (n.*4543C=)
c.1073C= (p.Ser358=)
c.5-7203C= (n.5-7203C=)
c.233C= (p.Ser78=)
c.-98-20964C= (n.-98-20964C=)
n.4896C=
n.4937C=
17g.43071154G>TCA10591988BRCA1c.4757C>A (p.Ser1586Ter)
c.4760C>A (p.Ser1587Ter)
c.4634C>A (p.Ser1545Ter)
c.4754C>A (p.Ser1585Ter)
c.4682C>A (p.Ser1561Ter)
c.1448C>A (p.Ser483Ter)
c.1310C>A (p.Ser437Ter)
c.3872C>A (p.Ser1291Ter)
c.4637C>A (p.Ser1546Ter)
c.4826C>A (p.Ser1609Ter)
c.4619C>A (p.Ser1540Ter)
c.1322C>A (p.Ser441Ter)
c.1367C>A (p.Ser456Ter)
c.4823C>A (p.Ser1608Ter)
c.1147C>A
c.1334C>A (p.Ser445Ter)
c.*4543C>A (n.*4543C>A)
c.1073C>A (p.Ser358Ter)
c.5-7203C>A (n.5-7203C>A)
c.233C>A (p.Ser78Ter)
c.-98-20964C>A (n.-98-20964C>A)
n.4896C>A
n.4937C>A
17g.43071154_43071155insTCA658825008BRCA1c.4756_4757insA (p.Ser1586TyrfsTer?)
c.4759_4760insA (p.Ser1587TyrfsTer?)
c.4633_4634insA (p.Ser1545TyrfsTer?)
c.4753_4754insA (p.Ser1585TyrfsTer?)
c.4681_4682insA (p.Ser1561TyrfsTer?)
c.1447_1448insA (p.Ser483TyrfsTer?)
c.1309_1310insA (p.Ser437TyrfsTer?)
c.3871_3872insA (p.Ser1291TyrfsTer?)
c.4636_4637insA (p.Ser1546TyrfsTer?)
c.4825_4826insA (p.Ser1609TyrfsTer?)
c.4618_4619insA (p.Ser1540TyrfsTer?)
c.1321_1322insA (p.Ser441TyrfsTer?)
c.1366_1367insA (p.Ser456TyrfsTer?)
c.4822_4823insA (p.Ser1608TyrfsTer?)
c.1146_1147insA
c.1333_1334insA (p.Ser445TyrfsTer?)
c.*4542_*4543insA (n.*4542_*4543insA)
c.1072_1073insA (p.Ser358TyrfsTer?)
c.5-7204_5-7203insA (n.5-7204_5-7203insA)
c.232_233insA (p.Ser78TyrfsTer?)
c.-98-20965_-98-20964insA (n.-98-20965_-98-20964insA)
n.4895_4896insA
n.4936_4937insA
 ClinVar dbSNP
17g.43071155A=CA2260772965BRCA1c.4756T= (p.Ser1586=)
c.4759T= (p.Ser1587=)
c.4633T= (p.Ser1545=)
c.4753T= (p.Ser1585=)
c.4681T= (p.Ser1561=)
c.1447T= (p.Ser483=)
c.1309T= (p.Ser437=)
c.3871T= (p.Ser1291=)
c.4636T= (p.Ser1546=)
c.4825T= (p.Ser1609=)
c.4618T= (p.Ser1540=)
c.1321T= (p.Ser441=)
c.1366T= (p.Ser456=)
c.4822T= (p.Ser1608=)
c.1146T=
c.1333T= (p.Ser445=)
c.*4542T= (n.*4542T=)
c.1072T= (p.Ser358=)
c.5-7204T= (n.5-7204T=)
c.232T= (p.Ser78=)
c.-98-20965T= (n.-98-20965T=)
n.4895T=
n.4936T=
17g.43071155A>CCA10591989BRCA1c.4756T>G (p.Ser1586Ala)
c.4759T>G (p.Ser1587Ala)
c.4633T>G (p.Ser1545Ala)
c.4753T>G (p.Ser1585Ala)
c.4681T>G (p.Ser1561Ala)
c.1447T>G (p.Ser483Ala)
c.1309T>G (p.Ser437Ala)
c.3871T>G (p.Ser1291Ala)
c.4636T>G (p.Ser1546Ala)
c.4825T>G (p.Ser1609Ala)
c.4618T>G (p.Ser1540Ala)
c.1321T>G (p.Ser441Ala)
c.1366T>G (p.Ser456Ala)
c.4822T>G (p.Ser1608Ala)
c.1146T>G
c.1333T>G (p.Ser445Ala)
c.*4542T>G (n.*4542T>G)
c.1072T>G (p.Ser358Ala)
c.5-7204T>G (n.5-7204T>G)
c.232T>G (p.Ser78Ala)
c.-98-20965T>G (n.-98-20965T>G)
n.4895T>G
n.4936T>G
 dbSNP
17g.43071155A>GCA10591990BRCA1c.4756T>C (p.Ser1586Pro)
c.4759T>C (p.Ser1587Pro)
c.4633T>C (p.Ser1545Pro)
c.4753T>C (p.Ser1585Pro)
c.4681T>C (p.Ser1561Pro)
c.1447T>C (p.Ser483Pro)
c.1309T>C (p.Ser437Pro)
c.3871T>C (p.Ser1291Pro)
c.4636T>C (p.Ser1546Pro)
c.4825T>C (p.Ser1609Pro)
c.4618T>C (p.Ser1540Pro)
c.1321T>C (p.Ser441Pro)
c.1366T>C (p.Ser456Pro)
c.4822T>C (p.Ser1608Pro)
c.1146T>C
c.1333T>C (p.Ser445Pro)
c.*4542T>C (n.*4542T>C)
c.1072T>C (p.Ser358Pro)
c.5-7204T>C (n.5-7204T>C)
c.232T>C (p.Ser78Pro)
c.-98-20965T>C (n.-98-20965T>C)
n.4895T>C
n.4936T>C
 dbSNP gnomAD v4 COSMIC COSMIC
17g.43071155A>TCA10591991BRCA1c.4756T>A (p.Ser1586Thr)
c.4759T>A (p.Ser1587Thr)
c.4633T>A (p.Ser1545Thr)
c.4753T>A (p.Ser1585Thr)
c.4681T>A (p.Ser1561Thr)
c.1447T>A (p.Ser483Thr)
c.1309T>A (p.Ser437Thr)
c.3871T>A (p.Ser1291Thr)
c.4636T>A (p.Ser1546Thr)
c.4825T>A (p.Ser1609Thr)
c.4618T>A (p.Ser1540Thr)
c.1321T>A (p.Ser441Thr)
c.1366T>A (p.Ser456Thr)
c.4822T>A (p.Ser1608Thr)
c.1146T>A
c.1333T>A (p.Ser445Thr)
c.*4542T>A (n.*4542T>A)
c.1072T>A (p.Ser358Thr)
c.5-7204T>A (n.5-7204T>A)
c.232T>A (p.Ser78Thr)
c.-98-20965T>A (n.-98-20965T>A)
n.4895T>A
n.4936T>A
 dbSNP
17g.43071155_43071156insTCA10589645BRCA1c.4755_4756insA (p.Ser1586IlefsTer?)
c.4758_4759insA (p.Ser1587IlefsTer?)
c.4632_4633insA (p.Ser1545IlefsTer?)
c.4752_4753insA (p.Ser1585IlefsTer?)
c.4680_4681insA (p.Ser1561IlefsTer?)
c.1446_1447insA (p.Ser483IlefsTer?)
c.1308_1309insA (p.Ser437IlefsTer?)
c.3870_3871insA (p.Ser1291IlefsTer?)
c.4635_4636insA (p.Ser1546IlefsTer?)
c.4824_4825insA (p.Ser1609IlefsTer?)
c.4617_4618insA (p.Ser1540IlefsTer?)
c.1320_1321insA (p.Ser441IlefsTer?)
c.1365_1366insA (p.Ser456IlefsTer?)
c.4821_4822insA (p.Ser1608IlefsTer?)
c.1145_1146insA
c.1332_1333insA (p.Ser445IlefsTer?)
c.*4541_*4542insA (n.*4541_*4542insA)
c.1071_1072insA (p.Ser358IlefsTer?)
c.5-7205_5-7204insA (n.5-7205_5-7204insA)
c.231_232insA (p.Ser78IlefsTer?)
c.-98-20966_-98-20965insA (n.-98-20966_-98-20965insA)
n.4894_4895insA
n.4935_4936insA
 ClinVar dbSNP
17g.43071156C>ACA10591992BRCA1c.4755G>T (p.Glu1585Asp)
c.4758G>T (p.Glu1586Asp)
c.4632G>T (p.Glu1544Asp)
c.4752G>T (p.Glu1584Asp)
c.4680G>T (p.Glu1560Asp)
c.1446G>T (p.Glu482Asp)
c.1308G>T (p.Glu436Asp)
c.3870G>T (p.Glu1290Asp)
c.4635G>T (p.Glu1545Asp)
c.4824G>T (p.Glu1608Asp)
c.4617G>T (p.Glu1539Asp)
c.1320G>T (p.Glu440Asp)
c.1365G>T (p.Glu455Asp)
c.4821G>T (p.Glu1607Asp)
c.1145G>T
c.1332G>T (p.Glu444Asp)
c.*4541G>T (n.*4541G>T)
c.1071G>T (p.Glu357Asp)
c.5-7205G>T (n.5-7205G>T)
c.231G>T (p.Glu77Asp)
c.-98-20966G>T (n.-98-20966G>T)
n.4894G>T
n.4935G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43071156C=CA2260772966BRCA1c.4755G= (p.Glu1585=)
c.4758G= (p.Glu1586=)
c.4632G= (p.Glu1544=)
c.4752G= (p.Glu1584=)
c.4680G= (p.Glu1560=)
c.1446G= (p.Glu482=)
c.1308G= (p.Glu436=)
c.3870G= (p.Glu1290=)
c.4635G= (p.Glu1545=)
c.4824G= (p.Glu1608=)
c.4617G= (p.Glu1539=)
c.1320G= (p.Glu440=)
c.1365G= (p.Glu455=)
c.4821G= (p.Glu1607=)
c.1145G=
c.1332G= (p.Glu444=)
c.*4541G= (n.*4541G=)
c.1071G= (p.Glu357=)
c.5-7205G= (n.5-7205G=)
c.231G= (p.Glu77=)
c.-98-20966G= (n.-98-20966G=)
n.4894G=
n.4935G=
17g.43071156C>GCA10591993BRCA1c.4755G>C (p.Glu1585Asp)
c.4758G>C (p.Glu1586Asp)
c.4632G>C (p.Glu1544Asp)
c.4752G>C (p.Glu1584Asp)
c.4680G>C (p.Glu1560Asp)
c.1446G>C (p.Glu482Asp)
c.1308G>C (p.Glu436Asp)
c.3870G>C (p.Glu1290Asp)
c.4635G>C (p.Glu1545Asp)
c.4824G>C (p.Glu1608Asp)
c.4617G>C (p.Glu1539Asp)
c.1320G>C (p.Glu440Asp)
c.1365G>C (p.Glu455Asp)
c.4821G>C (p.Glu1607Asp)
c.1145G>C
c.1332G>C (p.Glu444Asp)
c.*4541G>C (n.*4541G>C)
c.1071G>C (p.Glu357Asp)
c.5-7205G>C (n.5-7205G>C)
c.231G>C (p.Glu77Asp)
c.-98-20966G>C (n.-98-20966G>C)
n.4894G>C
n.4935G>C
 dbSNP
17g.43071156C>TCA500231860BRCA1c.4755G>A (p.Glu1585=)
c.4758G>A (p.Glu1586=)
c.4632G>A (p.Glu1544=)
c.4752G>A (p.Glu1584=)
c.4680G>A (p.Glu1560=)
c.1446G>A (p.Glu482=)
c.1308G>A (p.Glu436=)
c.3870G>A (p.Glu1290=)
c.4635G>A (p.Glu1545=)
c.4824G>A (p.Glu1608=)
c.4617G>A (p.Glu1539=)
c.1320G>A (p.Glu440=)
c.1365G>A (p.Glu455=)
c.4821G>A (p.Glu1607=)
c.1145G>A
c.1332G>A (p.Glu444=)
c.*4541G>A (n.*4541G>A)
c.1071G>A (p.Glu357=)
c.5-7205G>A (n.5-7205G>A)
c.231G>A (p.Glu77=)
c.-98-20966G>A (n.-98-20966G>A)
n.4894G>A
n.4935G>A
17g.43071157T>ACA10591994BRCA1c.4754A>T (p.Glu1585Val)
c.4757A>T (p.Glu1586Val)
c.4631A>T (p.Glu1544Val)
c.4751A>T (p.Glu1584Val)
c.4679A>T (p.Glu1560Val)
c.1445A>T (p.Glu482Val)
c.1307A>T (p.Glu436Val)
c.3869A>T (p.Glu1290Val)
c.4634A>T (p.Glu1545Val)
c.4823A>T (p.Glu1608Val)
c.4616A>T (p.Glu1539Val)
c.1319A>T (p.Glu440Val)
c.1364A>T (p.Glu455Val)
c.4820A>T (p.Glu1607Val)
c.1144A>T
c.1331A>T (p.Glu444Val)
c.*4540A>T (n.*4540A>T)
c.1070A>T (p.Glu357Val)
c.5-7206A>T (n.5-7206A>T)
c.230A>T (p.Glu77Val)
c.-98-20967A>T (n.-98-20967A>T)
n.4893A>T
n.4934A>T
 ClinVar dbSNP
17g.43071157T>CCA10591995BRCA1c.4754A>G (p.Glu1585Gly)
c.4757A>G (p.Glu1586Gly)
c.4631A>G (p.Glu1544Gly)
c.4751A>G (p.Glu1584Gly)
c.4679A>G (p.Glu1560Gly)
c.1445A>G (p.Glu482Gly)
c.1307A>G (p.Glu436Gly)
c.3869A>G (p.Glu1290Gly)
c.4634A>G (p.Glu1545Gly)
c.4823A>G (p.Glu1608Gly)
c.4616A>G (p.Glu1539Gly)
c.1319A>G (p.Glu440Gly)
c.1364A>G (p.Glu455Gly)
c.4820A>G (p.Glu1607Gly)
c.1144A>G
c.1331A>G (p.Glu444Gly)
c.*4540A>G (n.*4540A>G)
c.1070A>G (p.Glu357Gly)
c.5-7206A>G (n.5-7206A>G)
c.230A>G (p.Glu77Gly)
c.-98-20967A>G (n.-98-20967A>G)
n.4893A>G
n.4934A>G
17g.43071157T>GCA052929BRCA1c.4754A>C (p.Glu1585Ala)
c.4757A>C (p.Glu1586Ala)
c.4631A>C (p.Glu1544Ala)
c.4751A>C (p.Glu1584Ala)
c.4679A>C (p.Glu1560Ala)
c.1445A>C (p.Glu482Ala)
c.1307A>C (p.Glu436Ala)
c.3869A>C (p.Glu1290Ala)
c.4634A>C (p.Glu1545Ala)
c.4823A>C (p.Glu1608Ala)
c.4616A>C (p.Glu1539Ala)
c.1319A>C (p.Glu440Ala)
c.1364A>C (p.Glu455Ala)
c.4820A>C (p.Glu1607Ala)
c.1144A>C
c.1331A>C (p.Glu444Ala)
c.*4540A>C (n.*4540A>C)
c.1070A>C (p.Glu357Ala)
c.5-7206A>C (n.5-7206A>C)
c.230A>C (p.Glu77Ala)
c.-98-20967A>C (n.-98-20967A>C)
n.4893A>C
n.4934A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43071157T=CA2260772967BRCA1c.4754A= (p.Glu1585=)
c.4757A= (p.Glu1586=)
c.4631A= (p.Glu1544=)
c.4751A= (p.Glu1584=)
c.4679A= (p.Glu1560=)
c.1445A= (p.Glu482=)
c.1307A= (p.Glu436=)
c.3869A= (p.Glu1290=)
c.4634A= (p.Glu1545=)
c.4823A= (p.Glu1608=)
c.4616A= (p.Glu1539=)
c.1319A= (p.Glu440=)
c.1364A= (p.Glu455=)
c.4820A= (p.Glu1607=)
c.1144A=
c.1331A= (p.Glu444=)
c.*4540A= (n.*4540A=)
c.1070A= (p.Glu357=)
c.5-7206A= (n.5-7206A=)
c.230A= (p.Glu77=)
c.-98-20967A= (n.-98-20967A=)
n.4893A=
n.4934A=
17g.43071157dupCA658761204BRCA1c.4754dup (p.Ser1586ValfsTer?)
c.4757dup (p.Ser1587ValfsTer?)
c.4631dup (p.Ser1545ValfsTer?)
c.4751dup (p.Ser1585ValfsTer?)
c.4679dup (p.Ser1561ValfsTer?)
c.1445dup (p.Ser483ValfsTer?)
c.1307dup (p.Ser437ValfsTer?)
c.3869dup (p.Ser1291ValfsTer?)
c.4634dup (p.Ser1546ValfsTer?)
c.4823dup (p.Ser1609ValfsTer?)
c.4616dup (p.Ser1540ValfsTer?)
c.1319dup (p.Ser441ValfsTer?)
c.1364dup (p.Ser456ValfsTer?)
c.4820dup (p.Ser1608ValfsTer?)
c.1144dup
c.1331dup (p.Ser445ValfsTer?)
c.*4540dup (n.*4540dup)
c.1070dup (p.Ser358ValfsTer?)
c.5-7206dup (n.5-7206dup)
c.230dup (p.Ser78ValfsTer?)
c.-98-20967dup (n.-98-20967dup)
n.4893dup
n.4934dup
17g.43071158C>ACA10591996BRCA1c.4753G>T (p.Glu1585Ter)
c.4756G>T (p.Glu1586Ter)
c.4630G>T (p.Glu1544Ter)
c.4750G>T (p.Glu1584Ter)
c.4678G>T (p.Glu1560Ter)
c.1444G>T (p.Glu482Ter)
c.1306G>T (p.Glu436Ter)
c.3868G>T (p.Glu1290Ter)
c.4633G>T (p.Glu1545Ter)
c.4822G>T (p.Glu1608Ter)
c.4615G>T (p.Glu1539Ter)
c.1318G>T (p.Glu440Ter)
c.1363G>T (p.Glu455Ter)
c.4819G>T (p.Glu1607Ter)
c.1143G>T
c.1330G>T (p.Glu444Ter)
c.*4539G>T (n.*4539G>T)
c.1069G>T (p.Glu357Ter)
c.5-7207G>T (n.5-7207G>T)
c.229G>T (p.Glu77Ter)
c.-98-20968G>T (n.-98-20968G>T)
n.4892G>T
n.4933G>T
 ClinVar dbSNP
17g.43071158C=CA2260772970BRCA1c.4753G= (p.Glu1585=)
c.4756G= (p.Glu1586=)
c.4630G= (p.Glu1544=)
c.4750G= (p.Glu1584=)
c.4678G= (p.Glu1560=)
c.1444G= (p.Glu482=)
c.1306G= (p.Glu436=)
c.3868G= (p.Glu1290=)
c.4633G= (p.Glu1545=)
c.4822G= (p.Glu1608=)
c.4615G= (p.Glu1539=)
c.1318G= (p.Glu440=)
c.1363G= (p.Glu455=)
c.4819G= (p.Glu1607=)
c.1143G=
c.1330G= (p.Glu444=)
c.*4539G= (n.*4539G=)
c.1069G= (p.Glu357=)
c.5-7207G= (n.5-7207G=)
c.229G= (p.Glu77=)
c.-98-20968G= (n.-98-20968G=)
n.4892G=
n.4933G=
17g.43071158C>GCA10591997BRCA1c.4753G>C (p.Glu1585Gln)
c.4756G>C (p.Glu1586Gln)
c.4630G>C (p.Glu1544Gln)
c.4750G>C (p.Glu1584Gln)
c.4678G>C (p.Glu1560Gln)
c.1444G>C (p.Glu482Gln)
c.1306G>C (p.Glu436Gln)
c.3868G>C (p.Glu1290Gln)
c.4633G>C (p.Glu1545Gln)
c.4822G>C (p.Glu1608Gln)
c.4615G>C (p.Glu1539Gln)
c.1318G>C (p.Glu440Gln)
c.1363G>C (p.Glu455Gln)
c.4819G>C (p.Glu1607Gln)
c.1143G>C
c.1330G>C (p.Glu444Gln)
c.*4539G>C (n.*4539G>C)
c.1069G>C (p.Glu357Gln)
c.5-7207G>C (n.5-7207G>C)
c.229G>C (p.Glu77Gln)
c.-98-20968G>C (n.-98-20968G>C)
n.4892G>C
n.4933G>C
 dbSNP
17g.43071158C>TCA10591998BRCA1c.4753G>A (p.Glu1585Lys)
c.4756G>A (p.Glu1586Lys)
c.4630G>A (p.Glu1544Lys)
c.4750G>A (p.Glu1584Lys)
c.4678G>A (p.Glu1560Lys)
c.1444G>A (p.Glu482Lys)
c.1306G>A (p.Glu436Lys)
c.3868G>A (p.Glu1290Lys)
c.4633G>A (p.Glu1545Lys)
c.4822G>A (p.Glu1608Lys)
c.4615G>A (p.Glu1539Lys)
c.1318G>A (p.Glu440Lys)
c.1363G>A (p.Glu455Lys)
c.4819G>A (p.Glu1607Lys)
c.1143G>A
c.1330G>A (p.Glu444Lys)
c.*4539G>A (n.*4539G>A)
c.1069G>A (p.Glu357Lys)
c.5-7207G>A (n.5-7207G>A)
c.229G>A (p.Glu77Lys)
c.-98-20968G>A (n.-98-20968G>A)
n.4892G>A
n.4933G>A
 dbSNP
17g.43071158_43071159delinsCTCA2260772969BRCA1c.4752_4753delinsAG (p.Pro1584=)
c.4755_4756delinsAG (p.Pro1585=)
c.4629_4630delinsAG (p.Pro1543=)
c.4749_4750delinsAG (p.Pro1583=)
c.4677_4678delinsAG (p.Pro1559=)
c.1443_1444delinsAG (p.Pro481=)
c.1305_1306delinsAG (p.Pro435=)
c.3867_3868delinsAG (p.Pro1289=)
c.4632_4633delinsAG (p.Pro1544=)
c.4821_4822delinsAG (p.Pro1607=)
c.4614_4615delinsAG (p.Pro1538=)
c.1317_1318delinsAG (p.Pro439=)
c.1362_1363delinsAG (p.Pro454=)
c.4818_4819delinsAG (p.Pro1606=)
c.1142_1143delinsAG
c.1329_1330delinsAG (p.Pro443=)
c.*4538_*4539delinsAG (n.*4538_*4539delinsAG)
c.1068_1069delinsAG (p.Pro356=)
c.5-7208_5-7207delinsAG (n.5-7208_5-7207delinsAG)
c.228_229delinsAG (p.Pro76=)
c.-98-20969_-98-20968delinsAG (n.-98-20969_-98-20968delinsAG)
n.4891_4892delinsAG
n.4932_4933delinsAG
17g.43071158_43071160delinsCTGCA2260772968BRCA1c.4751_4753delinsCAG (p.Pro1584=)
c.4754_4756delinsCAG (p.Pro1585=)
c.4628_4630delinsCAG (p.Pro1543=)
c.4748_4750delinsCAG (p.Pro1583=)
c.4676_4678delinsCAG (p.Pro1559=)
c.1442_1444delinsCAG (p.Pro481=)
c.1304_1306delinsCAG (p.Pro435=)
c.3866_3868delinsCAG (p.Pro1289=)
c.4631_4633delinsCAG (p.Pro1544=)
c.4820_4822delinsCAG (p.Pro1607=)
c.4613_4615delinsCAG (p.Pro1538=)
c.1316_1318delinsCAG (p.Pro439=)
c.1361_1363delinsCAG (p.Pro454=)
c.4817_4819delinsCAG (p.Pro1606=)
c.1141_1143delinsCAG
c.1328_1330delinsCAG (p.Pro443=)
c.*4537_*4539delinsCAG (n.*4537_*4539delinsCAG)
c.1067_1069delinsCAG (p.Pro356=)
c.5-7209_5-7207delinsCAG (n.5-7209_5-7207delinsCAG)
c.227_229delinsCAG (p.Pro76=)
c.-98-20970_-98-20968delinsCAG (n.-98-20970_-98-20968delinsCAG)
n.4890_4892delinsCAG
n.4931_4933delinsCAG
17g.43071159delCA10575940BRCA1c.4752del (p.Glu1585SerfsTer15)
c.4755del (p.Glu1586SerfsTer15)
c.4629del (p.Glu1544SerfsTer15)
c.4749del (p.Glu1584SerfsTer15)
c.4677del (p.Glu1560SerfsTer15)
c.1443del (p.Glu482SerfsTer15)
c.1305del (p.Glu436SerfsTer15)
c.3867del (p.Glu1290SerfsTer15)
c.4632del (p.Glu1545SerfsTer15)
c.4821del (p.Glu1608SerfsTer15)
c.4614del (p.Glu1539SerfsTer15)
c.1317del (p.Glu440SerfsTer15)
c.1362del (p.Glu455SerfsTer15)
c.4818del (p.Glu1607SerfsTer15)
c.1142del
c.1329del (p.Glu444SerfsTer15)
c.*4538del (n.*4538del)
c.1068del (p.Glu357SerfsTer15)
c.5-7208del (n.5-7208del)
c.228del (p.Glu77SerfsTer15)
c.-98-20969del (n.-98-20969del)
n.4891del
n.4932del
 ClinVar dbSNP
17g.43071159T>ACA500231861BRCA1c.4752A>T (p.Pro1584=)
c.4755A>T (p.Pro1585=)
c.4629A>T (p.Pro1543=)
c.4749A>T (p.Pro1583=)
c.4677A>T (p.Pro1559=)
c.1443A>T (p.Pro481=)
c.1305A>T (p.Pro435=)
c.3867A>T (p.Pro1289=)
c.4632A>T (p.Pro1544=)
c.4821A>T (p.Pro1607=)
c.4614A>T (p.Pro1538=)
c.1317A>T (p.Pro439=)
c.1362A>T (p.Pro454=)
c.4818A>T (p.Pro1606=)
c.1142A>T
c.1329A>T (p.Pro443=)
c.*4538A>T (n.*4538A>T)
c.1068A>T (p.Pro356=)
c.5-7208A>T (n.5-7208A>T)
c.228A>T (p.Pro76=)
c.-98-20969A>T (n.-98-20969A>T)
n.4891A>T
n.4932A>T
17g.43071159T>CCA500231862BRCA1c.4752A>G (p.Pro1584=)
c.4755A>G (p.Pro1585=)
c.4629A>G (p.Pro1543=)
c.4749A>G (p.Pro1583=)
c.4677A>G (p.Pro1559=)
c.1443A>G (p.Pro481=)
c.1305A>G (p.Pro435=)
c.3867A>G (p.Pro1289=)
c.4632A>G (p.Pro1544=)
c.4821A>G (p.Pro1607=)
c.4614A>G (p.Pro1538=)
c.1317A>G (p.Pro439=)
c.1362A>G (p.Pro454=)
c.4818A>G (p.Pro1606=)
c.1142A>G
c.1329A>G (p.Pro443=)
c.*4538A>G (n.*4538A>G)
c.1068A>G (p.Pro356=)
c.5-7208A>G (n.5-7208A>G)
c.228A>G (p.Pro76=)
c.-98-20969A>G (n.-98-20969A>G)
n.4891A>G
n.4932A>G
17g.43071159T>GCA500231863BRCA1c.4752A>C (p.Pro1584=)
c.4755A>C (p.Pro1585=)
c.4629A>C (p.Pro1543=)
c.4749A>C (p.Pro1583=)
c.4677A>C (p.Pro1559=)
c.1443A>C (p.Pro481=)
c.1305A>C (p.Pro435=)
c.3867A>C (p.Pro1289=)
c.4632A>C (p.Pro1544=)
c.4821A>C (p.Pro1607=)
c.4614A>C (p.Pro1538=)
c.1317A>C (p.Pro439=)
c.1362A>C (p.Pro454=)
c.4818A>C (p.Pro1606=)
c.1142A>C
c.1329A>C (p.Pro443=)
c.*4538A>C (n.*4538A>C)
c.1068A>C (p.Pro356=)
c.5-7208A>C (n.5-7208A>C)
c.228A>C (p.Pro76=)
c.-98-20969A>C (n.-98-20969A>C)
n.4891A>C
n.4932A>C
 ClinVar dbSNP
17g.43071159T=CA2260772971BRCA1c.4752A= (p.Pro1584=)
c.4755A= (p.Pro1585=)
c.4629A= (p.Pro1543=)
c.4749A= (p.Pro1583=)
c.4677A= (p.Pro1559=)
c.1443A= (p.Pro481=)
c.1305A= (p.Pro435=)
c.3867A= (p.Pro1289=)
c.4632A= (p.Pro1544=)
c.4821A= (p.Pro1607=)
c.4614A= (p.Pro1538=)
c.1317A= (p.Pro439=)
c.1362A= (p.Pro454=)
c.4818A= (p.Pro1606=)
c.1142A=
c.1329A= (p.Pro443=)
c.*4538A= (n.*4538A=)
c.1068A= (p.Pro356=)
c.5-7208A= (n.5-7208A=)
c.228A= (p.Pro76=)
c.-98-20969A= (n.-98-20969A=)
n.4891A=
n.4932A=
17g.43071159_43071160delCA003007BRCA1c.4751_4752del (p.Pro1584ArgfsTer?)
c.4754_4755del (p.Pro1585ArgfsTer?)
c.4628_4629del (p.Pro1543ArgfsTer?)
c.4748_4749del (p.Pro1583ArgfsTer?)
c.4676_4677del (p.Pro1559ArgfsTer?)
c.1442_1443del (p.Pro481ArgfsTer?)
c.1304_1305del (p.Pro435ArgfsTer?)
c.3866_3867del (p.Pro1289ArgfsTer?)
c.4631_4632del (p.Pro1544ArgfsTer?)
c.4820_4821del (p.Pro1607ArgfsTer?)
c.4613_4614del (p.Pro1538ArgfsTer?)
c.1316_1317del (p.Pro439ArgfsTer?)
c.1361_1362del (p.Pro454ArgfsTer?)
c.4817_4818del (p.Pro1606ArgfsTer?)
c.1141_1142del
c.1328_1329del (p.Pro443ArgfsTer?)
c.*4537_*4538del (n.*4537_*4538del)
c.1067_1068del (p.Pro356ArgfsTer?)
c.5-7209_5-7208del (n.5-7209_5-7208del)
c.227_228del (p.Pro76ArgfsTer?)
c.-98-20970_-98-20969del (n.-98-20970_-98-20969del)
n.4890_4891del
n.4931_4932del
 ClinVar dbSNP
17g.43071160G>ACA10591999BRCA1c.4751C>T (p.Pro1584Leu)
c.4754C>T (p.Pro1585Leu)
c.4628C>T (p.Pro1543Leu)
c.4748C>T (p.Pro1583Leu)
c.4676C>T (p.Pro1559Leu)
c.1442C>T (p.Pro481Leu)
c.1304C>T (p.Pro435Leu)
c.3866C>T (p.Pro1289Leu)
c.4631C>T (p.Pro1544Leu)
c.4820C>T (p.Pro1607Leu)
c.4613C>T (p.Pro1538Leu)
c.1316C>T (p.Pro439Leu)
c.1361C>T (p.Pro454Leu)
c.4817C>T (p.Pro1606Leu)
c.1141C>T
c.1328C>T (p.Pro443Leu)
c.*4537C>T (n.*4537C>T)
c.1067C>T (p.Pro356Leu)
c.5-7209C>T (n.5-7209C>T)
c.227C>T (p.Pro76Leu)
c.-98-20970C>T (n.-98-20970C>T)
n.4890C>T
n.4931C>T
 dbSNP
17g.43071160G>CCA10592000BRCA1c.4751C>G (p.Pro1584Arg)
c.4754C>G (p.Pro1585Arg)
c.4628C>G (p.Pro1543Arg)
c.4748C>G (p.Pro1583Arg)
c.4676C>G (p.Pro1559Arg)
c.1442C>G (p.Pro481Arg)
c.1304C>G (p.Pro435Arg)
c.3866C>G (p.Pro1289Arg)
c.4631C>G (p.Pro1544Arg)
c.4820C>G (p.Pro1607Arg)
c.4613C>G (p.Pro1538Arg)
c.1316C>G (p.Pro439Arg)
c.1361C>G (p.Pro454Arg)
c.4817C>G (p.Pro1606Arg)
c.1141C>G
c.1328C>G (p.Pro443Arg)
c.*4537C>G (n.*4537C>G)
c.1067C>G (p.Pro356Arg)
c.5-7209C>G (n.5-7209C>G)
c.227C>G (p.Pro76Arg)
c.-98-20970C>G (n.-98-20970C>G)
n.4890C>G
n.4931C>G
 dbSNP
17g.43071160G>TCA10592001BRCA1c.4751C>A (p.Pro1584Gln)
c.4754C>A (p.Pro1585Gln)
c.4628C>A (p.Pro1543Gln)
c.4748C>A (p.Pro1583Gln)
c.4676C>A (p.Pro1559Gln)
c.1442C>A (p.Pro481Gln)
c.1304C>A (p.Pro435Gln)
c.3866C>A (p.Pro1289Gln)
c.4631C>A (p.Pro1544Gln)
c.4820C>A (p.Pro1607Gln)
c.4613C>A (p.Pro1538Gln)
c.1316C>A (p.Pro439Gln)
c.1361C>A (p.Pro454Gln)
c.4817C>A (p.Pro1606Gln)
c.1141C>A
c.1328C>A (p.Pro443Gln)
c.*4537C>A (n.*4537C>A)
c.1067C>A (p.Pro356Gln)
c.5-7209C>A (n.5-7209C>A)
c.227C>A (p.Pro76Gln)
c.-98-20970C>A (n.-98-20970C>A)
n.4890C>A
n.4931C>A
17g.43071163dupCA915950112BRCA1c.4751dup (p.Glu1585ArgfsTer?)
c.4754dup (p.Glu1586ArgfsTer?)
c.4628dup (p.Glu1544ArgfsTer?)
c.4748dup (p.Glu1584ArgfsTer?)
c.4676dup (p.Glu1560ArgfsTer?)
c.1442dup (p.Glu482ArgfsTer?)
c.1304dup (p.Glu436ArgfsTer?)
c.3866dup (p.Glu1290ArgfsTer?)
c.4631dup (p.Glu1545ArgfsTer?)
c.4820dup (p.Glu1608ArgfsTer?)
c.4613dup (p.Glu1539ArgfsTer?)
c.1316dup (p.Glu440ArgfsTer?)
c.1361dup (p.Glu455ArgfsTer?)
c.4817dup (p.Glu1607ArgfsTer?)
c.1141dup
c.1328dup (p.Glu444ArgfsTer?)
c.*4537dup (n.*4537dup)
c.1067dup (p.Glu357ArgfsTer?)
c.5-7209dup (n.5-7209dup)
c.227dup (p.Glu77ArgfsTer?)
c.-98-20970dup (n.-98-20970dup)
n.4890dup
n.4931dup
 ClinVar dbSNP
17g.43071161G>ACA10592002BRCA1c.4750C>T (p.Pro1584Ser)
c.4753C>T (p.Pro1585Ser)
c.4627C>T (p.Pro1543Ser)
c.4747C>T (p.Pro1583Ser)
c.4675C>T (p.Pro1559Ser)
c.1441C>T (p.Pro481Ser)
c.1303C>T (p.Pro435Ser)
c.3865C>T (p.Pro1289Ser)
c.4630C>T (p.Pro1544Ser)
c.4819C>T (p.Pro1607Ser)
c.4612C>T (p.Pro1538Ser)
c.1315C>T (p.Pro439Ser)
c.1360C>T (p.Pro454Ser)
c.4816C>T (p.Pro1606Ser)
c.1140C>T
c.1327C>T (p.Pro443Ser)
c.*4536C>T (n.*4536C>T)
c.1066C>T (p.Pro356Ser)
c.5-7210C>T (n.5-7210C>T)
c.226C>T (p.Pro76Ser)
c.-98-20971C>T (n.-98-20971C>T)
n.4889C>T
n.4930C>T
 ClinVar dbSNP gnomAD v4
17g.43071161G>CCA10592003BRCA1c.4750C>G (p.Pro1584Ala)
c.4753C>G (p.Pro1585Ala)
c.4627C>G (p.Pro1543Ala)
c.4747C>G (p.Pro1583Ala)
c.4675C>G (p.Pro1559Ala)
c.1441C>G (p.Pro481Ala)
c.1303C>G (p.Pro435Ala)
c.3865C>G (p.Pro1289Ala)
c.4630C>G (p.Pro1544Ala)
c.4819C>G (p.Pro1607Ala)
c.4612C>G (p.Pro1538Ala)
c.1315C>G (p.Pro439Ala)
c.1360C>G (p.Pro454Ala)
c.4816C>G (p.Pro1606Ala)
c.1140C>G
c.1327C>G (p.Pro443Ala)
c.*4536C>G (n.*4536C>G)
c.1066C>G (p.Pro356Ala)
c.5-7210C>G (n.5-7210C>G)
c.226C>G (p.Pro76Ala)
c.-98-20971C>G (n.-98-20971C>G)
n.4889C>G
n.4930C>G
 ClinVar dbSNP
17g.43071161G=CA2260772972BRCA1c.4750C= (p.Pro1584=)
c.4753C= (p.Pro1585=)
c.4627C= (p.Pro1543=)
c.4747C= (p.Pro1583=)
c.4675C= (p.Pro1559=)
c.1441C= (p.Pro481=)
c.1303C= (p.Pro435=)
c.3865C= (p.Pro1289=)
c.4630C= (p.Pro1544=)
c.4819C= (p.Pro1607=)
c.4612C= (p.Pro1538=)
c.1315C= (p.Pro439=)
c.1360C= (p.Pro454=)
c.4816C= (p.Pro1606=)
c.1140C=
c.1327C= (p.Pro443=)
c.*4536C= (n.*4536C=)
c.1066C= (p.Pro356=)
c.5-7210C= (n.5-7210C=)
c.226C= (p.Pro76=)
c.-98-20971C= (n.-98-20971C=)
n.4889C=
n.4930C=
17g.43071161G>TCA10592004BRCA1c.4750C>A (p.Pro1584Thr)
c.4753C>A (p.Pro1585Thr)
c.4627C>A (p.Pro1543Thr)
c.4747C>A (p.Pro1583Thr)
c.4675C>A (p.Pro1559Thr)
c.1441C>A (p.Pro481Thr)
c.1303C>A (p.Pro435Thr)
c.3865C>A (p.Pro1289Thr)
c.4630C>A (p.Pro1544Thr)
c.4819C>A (p.Pro1607Thr)
c.4612C>A (p.Pro1538Thr)
c.1315C>A (p.Pro439Thr)
c.1360C>A (p.Pro454Thr)
c.4816C>A (p.Pro1606Thr)
c.1140C>A
c.1327C>A (p.Pro443Thr)
c.*4536C>A (n.*4536C>A)
c.1066C>A (p.Pro356Thr)
c.5-7210C>A (n.5-7210C>A)
c.226C>A (p.Pro76Thr)
c.-98-20971C>A (n.-98-20971C>A)
n.4889C>A
n.4930C>A
 dbSNP
17g.43071162G>ACA003006BRCA1c.4749C>T (p.Ala1583=)
c.4752C>T (p.Ala1584=)
c.4626C>T (p.Ala1542=)
c.4746C>T (p.Ala1582=)
c.4674C>T (p.Ala1558=)
c.1440C>T (p.Ala480=)
c.1302C>T (p.Ala434=)
c.3864C>T (p.Ala1288=)
c.4629C>T (p.Ala1543=)
c.4818C>T (p.Ala1606=)
c.4611C>T (p.Ala1537=)
c.1314C>T (p.Ala438=)
c.1359C>T (p.Ala453=)
c.4815C>T (p.Ala1605=)
c.1139C>T
c.1326C>T (p.Ala442=)
c.*4535C>T (n.*4535C>T)
c.1065C>T (p.Ala355=)
c.5-7211C>T (n.5-7211C>T)
c.225C>T (p.Ala75=)
c.-98-20972C>T (n.-98-20972C>T)
n.4888C>T
n.4929C>T
 ClinVar dbSNP
17g.43071162G>CCA500231864BRCA1c.4749C>G (p.Ala1583=)
c.4752C>G (p.Ala1584=)
c.4626C>G (p.Ala1542=)
c.4746C>G (p.Ala1582=)
c.4674C>G (p.Ala1558=)
c.1440C>G (p.Ala480=)
c.1302C>G (p.Ala434=)
c.3864C>G (p.Ala1288=)
c.4629C>G (p.Ala1543=)
c.4818C>G (p.Ala1606=)
c.4611C>G (p.Ala1537=)
c.1314C>G (p.Ala438=)
c.1359C>G (p.Ala453=)
c.4815C>G (p.Ala1605=)
c.1139C>G
c.1326C>G (p.Ala442=)
c.*4535C>G (n.*4535C>G)
c.1065C>G (p.Ala355=)
c.5-7211C>G (n.5-7211C>G)
c.225C>G (p.Ala75=)
c.-98-20972C>G (n.-98-20972C>G)
n.4888C>G
n.4929C>G
 dbSNP
17g.43071162G=CA2260772973BRCA1c.4749C= (p.Ala1583=)
c.4752C= (p.Ala1584=)
c.4626C= (p.Ala1542=)
c.4746C= (p.Ala1582=)
c.4674C= (p.Ala1558=)
c.1440C= (p.Ala480=)
c.1302C= (p.Ala434=)
c.3864C= (p.Ala1288=)
c.4629C= (p.Ala1543=)
c.4818C= (p.Ala1606=)
c.4611C= (p.Ala1537=)
c.1314C= (p.Ala438=)
c.1359C= (p.Ala453=)
c.4815C= (p.Ala1605=)
c.1139C=
c.1326C= (p.Ala442=)
c.*4535C= (n.*4535C=)
c.1065C= (p.Ala355=)
c.5-7211C= (n.5-7211C=)
c.225C= (p.Ala75=)
c.-98-20972C= (n.-98-20972C=)
n.4888C=
n.4929C=
17g.43071162G>TCA500231865BRCA1c.4749C>A (p.Ala1583=)
c.4752C>A (p.Ala1584=)
c.4626C>A (p.Ala1542=)
c.4746C>A (p.Ala1582=)
c.4674C>A (p.Ala1558=)
c.1440C>A (p.Ala480=)
c.1302C>A (p.Ala434=)
c.3864C>A (p.Ala1288=)
c.4629C>A (p.Ala1543=)
c.4818C>A (p.Ala1606=)
c.4611C>A (p.Ala1537=)
c.1314C>A (p.Ala438=)
c.1359C>A (p.Ala453=)
c.4815C>A (p.Ala1605=)
c.1139C>A
c.1326C>A (p.Ala442=)
c.*4535C>A (n.*4535C>A)
c.1065C>A (p.Ala355=)
c.5-7211C>A (n.5-7211C>A)
c.225C>A (p.Ala75=)
c.-98-20972C>A (n.-98-20972C>A)
n.4888C>A
n.4929C>A
 dbSNP
17g.43071163G>ACA10592005BRCA1c.4748C>T (p.Ala1583Val)
c.4751C>T (p.Ala1584Val)
c.4625C>T (p.Ala1542Val)
c.4745C>T (p.Ala1582Val)
c.4673C>T (p.Ala1558Val)
c.1439C>T (p.Ala480Val)
c.1301C>T (p.Ala434Val)
c.3863C>T (p.Ala1288Val)
c.4628C>T (p.Ala1543Val)
c.4817C>T (p.Ala1606Val)
c.4610C>T (p.Ala1537Val)
c.1313C>T (p.Ala438Val)
c.1358C>T (p.Ala453Val)
c.4814C>T (p.Ala1605Val)
c.1138C>T
c.1325C>T (p.Ala442Val)
c.*4534C>T (n.*4534C>T)
c.1064C>T (p.Ala355Val)
c.5-7212C>T (n.5-7212C>T)
c.224C>T (p.Ala75Val)
c.-98-20973C>T (n.-98-20973C>T)
n.4887C>T
n.4928C>T
 ClinVar dbSNP
17g.43071163G>CCA10592006BRCA1c.4748C>G (p.Ala1583Gly)
c.4751C>G (p.Ala1584Gly)
c.4625C>G (p.Ala1542Gly)
c.4745C>G (p.Ala1582Gly)
c.4673C>G (p.Ala1558Gly)
c.1439C>G (p.Ala480Gly)
c.1301C>G (p.Ala434Gly)
c.3863C>G (p.Ala1288Gly)
c.4628C>G (p.Ala1543Gly)
c.4817C>G (p.Ala1606Gly)
c.4610C>G (p.Ala1537Gly)
c.1313C>G (p.Ala438Gly)
c.1358C>G (p.Ala453Gly)
c.4814C>G (p.Ala1605Gly)
c.1138C>G
c.1325C>G (p.Ala442Gly)
c.*4534C>G (n.*4534C>G)
c.1064C>G (p.Ala355Gly)
c.5-7212C>G (n.5-7212C>G)
c.224C>G (p.Ala75Gly)
c.-98-20973C>G (n.-98-20973C>G)
n.4887C>G
n.4928C>G
 ClinVar dbSNP
17g.43071163G=CA2260772975BRCA1c.4748C= (p.Ala1583=)
c.4751C= (p.Ala1584=)
c.4625C= (p.Ala1542=)
c.4745C= (p.Ala1582=)
c.4673C= (p.Ala1558=)
c.1439C= (p.Ala480=)
c.1301C= (p.Ala434=)
c.3863C= (p.Ala1288=)
c.4628C= (p.Ala1543=)
c.4817C= (p.Ala1606=)
c.4610C= (p.Ala1537=)
c.1313C= (p.Ala438=)
c.1358C= (p.Ala453=)
c.4814C= (p.Ala1605=)
c.1138C=
c.1325C= (p.Ala442=)
c.*4534C= (n.*4534C=)
c.1064C= (p.Ala355=)
c.5-7212C= (n.5-7212C=)
c.224C= (p.Ala75=)
c.-98-20973C= (n.-98-20973C=)
n.4887C=
n.4928C=
17g.43071163G>TCA10592007BRCA1c.4748C>A (p.Ala1583Asp)
c.4751C>A (p.Ala1584Asp)
c.4625C>A (p.Ala1542Asp)
c.4745C>A (p.Ala1582Asp)
c.4673C>A (p.Ala1558Asp)
c.1439C>A (p.Ala480Asp)
c.1301C>A (p.Ala434Asp)
c.3863C>A (p.Ala1288Asp)
c.4628C>A (p.Ala1543Asp)
c.4817C>A (p.Ala1606Asp)
c.4610C>A (p.Ala1537Asp)
c.1313C>A (p.Ala438Asp)
c.1358C>A (p.Ala453Asp)
c.4814C>A (p.Ala1605Asp)
c.1138C>A
c.1325C>A (p.Ala442Asp)
c.*4534C>A (n.*4534C>A)
c.1064C>A (p.Ala355Asp)
c.5-7212C>A (n.5-7212C>A)
c.224C>A (p.Ala75Asp)
c.-98-20973C>A (n.-98-20973C>A)
n.4887C>A
n.4928C>A
 dbSNP
17g.43071163_43071164delinsGCCA2260772976BRCA1c.4747_4748delinsGC (p.Ala1583=)
c.4750_4751delinsGC (p.Ala1584=)
c.4624_4625delinsGC (p.Ala1542=)
c.4744_4745delinsGC (p.Ala1582=)
c.4672_4673delinsGC (p.Ala1558=)
c.1438_1439delinsGC (p.Ala480=)
c.1300_1301delinsGC (p.Ala434=)
c.3862_3863delinsGC (p.Ala1288=)
c.4627_4628delinsGC (p.Ala1543=)
c.4816_4817delinsGC (p.Ala1606=)
c.4609_4610delinsGC (p.Ala1537=)
c.1312_1313delinsGC (p.Ala438=)
c.1357_1358delinsGC (p.Ala453=)
c.4813_4814delinsGC (p.Ala1605=)
c.1137_1138delinsGC
c.1324_1325delinsGC (p.Ala442=)
c.*4533_*4534delinsGC (n.*4533_*4534delinsGC)
c.1063_1064delinsGC (p.Ala355=)
c.5-7213_5-7212delinsGC (n.5-7213_5-7212delinsGC)
c.223_224delinsGC (p.Ala75=)
c.-98-20974_-98-20973delinsGC (n.-98-20974_-98-20973delinsGC)
n.4886_4887delinsGC
n.4927_4928delinsGC
17g.43071163_43071165delinsGCTCA2260772974BRCA1c.4746_4748delinsAGC (p.Arg1582=)
c.4749_4751delinsAGC (p.Arg1583=)
c.4623_4625delinsAGC (p.Arg1541=)
c.4743_4745delinsAGC (p.Arg1581=)
c.4671_4673delinsAGC (p.Arg1557=)
c.1437_1439delinsAGC (p.Arg479=)
c.1299_1301delinsAGC (p.Arg433=)
c.3861_3863delinsAGC (p.Arg1287=)
c.4626_4628delinsAGC (p.Arg1542=)
c.4815_4817delinsAGC (p.Arg1605=)
c.4608_4610delinsAGC (p.Arg1536=)
c.1311_1313delinsAGC (p.Arg437=)
c.1356_1358delinsAGC (p.Arg452=)
c.4812_4814delinsAGC (p.Arg1604=)
c.1136_1138delinsAGC
c.1323_1325delinsAGC (p.Arg441=)
c.*4532_*4534delinsAGC (n.*4532_*4534delinsAGC)
c.1062_1064delinsAGC (p.Arg354=)
c.5-7214_5-7212delinsAGC (n.5-7214_5-7212delinsAGC)
c.222_224delinsAGC (p.Arg74=)
c.-98-20975_-98-20973delinsAGC (n.-98-20975_-98-20973delinsAGC)
n.4885_4887delinsAGC
n.4926_4928delinsAGC
17g.43071164delCA1139665582BRCA1c.4747del (p.Ala1583ProfsTer17)
c.4750del (p.Ala1584ProfsTer17)
c.4624del (p.Ala1542ProfsTer17)
c.4744del (p.Ala1582ProfsTer17)
c.4672del (p.Ala1558ProfsTer17)
c.1438del (p.Ala480ProfsTer17)
c.1300del (p.Ala434ProfsTer17)
c.3862del (p.Ala1288ProfsTer17)
c.4627del (p.Ala1543ProfsTer17)
c.4816del (p.Ala1606ProfsTer17)
c.4609del (p.Ala1537ProfsTer17)
c.1312del (p.Ala438ProfsTer17)
c.1357del (p.Ala453ProfsTer17)
c.4813del (p.Ala1605ProfsTer17)
c.1137del
c.1324del (p.Ala442ProfsTer17)
c.*4533del (n.*4533del)
c.1063del (p.Ala355ProfsTer17)
c.5-7213del (n.5-7213del)
c.223del (p.Ala75ProfsTer17)
c.-98-20974del (n.-98-20974del)
n.4886del
n.4927del
 ClinVar dbSNP
17g.43071164C>ACA003005BRCA1c.4747G>T (p.Ala1583Ser)
c.4750G>T (p.Ala1584Ser)
c.4624G>T (p.Ala1542Ser)
c.4744G>T (p.Ala1582Ser)
c.4672G>T (p.Ala1558Ser)
c.1438G>T (p.Ala480Ser)
c.1300G>T (p.Ala434Ser)
c.3862G>T (p.Ala1288Ser)
c.4627G>T (p.Ala1543Ser)
c.4816G>T (p.Ala1606Ser)
c.4609G>T (p.Ala1537Ser)
c.1312G>T (p.Ala438Ser)
c.1357G>T (p.Ala453Ser)
c.4813G>T (p.Ala1605Ser)
c.1137G>T
c.1324G>T (p.Ala442Ser)
c.*4533G>T (n.*4533G>T)
c.1063G>T (p.Ala355Ser)
c.5-7213G>T (n.5-7213G>T)
c.223G>T (p.Ala75Ser)
c.-98-20974G>T (n.-98-20974G>T)
n.4886G>T
n.4927G>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43071164C=CA2260772977BRCA1c.4747G= (p.Ala1583=)
c.4750G= (p.Ala1584=)
c.4624G= (p.Ala1542=)
c.4744G= (p.Ala1582=)
c.4672G= (p.Ala1558=)
c.1438G= (p.Ala480=)
c.1300G= (p.Ala434=)
c.3862G= (p.Ala1288=)
c.4627G= (p.Ala1543=)
c.4816G= (p.Ala1606=)
c.4609G= (p.Ala1537=)
c.1312G= (p.Ala438=)
c.1357G= (p.Ala453=)
c.4813G= (p.Ala1605=)
c.1137G=
c.1324G= (p.Ala442=)
c.*4533G= (n.*4533G=)
c.1063G= (p.Ala355=)
c.5-7213G= (n.5-7213G=)
c.223G= (p.Ala75=)
c.-98-20974G= (n.-98-20974G=)
n.4886G=
n.4927G=
17g.43071164C>GCA10592008BRCA1c.4747G>C (p.Ala1583Pro)
c.4750G>C (p.Ala1584Pro)
c.4624G>C (p.Ala1542Pro)
c.4744G>C (p.Ala1582Pro)
c.4672G>C (p.Ala1558Pro)
c.1438G>C (p.Ala480Pro)
c.1300G>C (p.Ala434Pro)
c.3862G>C (p.Ala1288Pro)
c.4627G>C (p.Ala1543Pro)
c.4816G>C (p.Ala1606Pro)
c.4609G>C (p.Ala1537Pro)
c.1312G>C (p.Ala438Pro)
c.1357G>C (p.Ala453Pro)
c.4813G>C (p.Ala1605Pro)
c.1137G>C
c.1324G>C (p.Ala442Pro)
c.*4533G>C (n.*4533G>C)
c.1063G>C (p.Ala355Pro)
c.5-7213G>C (n.5-7213G>C)
c.223G>C (p.Ala75Pro)
c.-98-20974G>C (n.-98-20974G>C)
n.4886G>C
n.4927G>C
 dbSNP
17g.43071164C>TCA10592009BRCA1c.4747G>A (p.Ala1583Thr)
c.4750G>A (p.Ala1584Thr)
c.4624G>A (p.Ala1542Thr)
c.4744G>A (p.Ala1582Thr)
c.4672G>A (p.Ala1558Thr)
c.1438G>A (p.Ala480Thr)
c.1300G>A (p.Ala434Thr)
c.3862G>A (p.Ala1288Thr)
c.4627G>A (p.Ala1543Thr)
c.4816G>A (p.Ala1606Thr)
c.4609G>A (p.Ala1537Thr)
c.1312G>A (p.Ala438Thr)
c.1357G>A (p.Ala453Thr)
c.4813G>A (p.Ala1605Thr)
c.1137G>A
c.1324G>A (p.Ala442Thr)
c.*4533G>A (n.*4533G>A)
c.1063G>A (p.Ala355Thr)
c.5-7213G>A (n.5-7213G>A)
c.223G>A (p.Ala75Thr)
c.-98-20974G>A (n.-98-20974G>A)
n.4886G>A
n.4927G>A
 dbSNP
17g.43071166_43071167delCA003004BRCA1c.4746_4747del (p.Arg1582SerfsTer?)
c.4749_4750del (p.Arg1583SerfsTer?)
c.4623_4624del (p.Arg1541SerfsTer?)
c.4743_4744del (p.Arg1581SerfsTer?)
c.4671_4672del (p.Arg1557SerfsTer?)
c.1437_1438del (p.Arg479SerfsTer?)
c.1299_1300del (p.Arg433SerfsTer?)
c.3861_3862del (p.Arg1287SerfsTer?)
c.4626_4627del (p.Arg1542SerfsTer?)
c.4815_4816del (p.Arg1605SerfsTer?)
c.4608_4609del (p.Arg1536SerfsTer?)
c.1311_1312del (p.Arg437SerfsTer?)
c.1356_1357del (p.Arg452SerfsTer?)
c.4812_4813del (p.Arg1604SerfsTer?)
c.1136_1137del
c.1323_1324del (p.Arg441SerfsTer?)
c.*4532_*4533del (n.*4532_*4533del)
c.1062_1063del (p.Arg354SerfsTer?)
c.5-7214_5-7213del (n.5-7214_5-7213del)
c.222_223del (p.Arg74SerfsTer?)
c.-98-20975_-98-20974del (n.-98-20975_-98-20974del)
n.4885_4886del
n.4926_4927del
 ClinVar dbSNP
17g.43071165T>ACA10592010BRCA1c.4746A>T (p.Arg1582Ser)
c.4749A>T (p.Arg1583Ser)
c.4623A>T (p.Arg1541Ser)
c.4743A>T (p.Arg1581Ser)
c.4671A>T (p.Arg1557Ser)
c.1437A>T (p.Arg479Ser)
c.1299A>T (p.Arg433Ser)
c.3861A>T (p.Arg1287Ser)
c.4626A>T (p.Arg1542Ser)
c.4815A>T (p.Arg1605Ser)
c.4608A>T (p.Arg1536Ser)
c.1311A>T (p.Arg437Ser)
c.1356A>T (p.Arg452Ser)
c.4812A>T (p.Arg1604Ser)
c.1136A>T
c.1323A>T (p.Arg441Ser)
c.*4532A>T (n.*4532A>T)
c.1062A>T (p.Arg354Ser)
c.5-7214A>T (n.5-7214A>T)
c.222A>T (p.Arg74Ser)
c.-98-20975A>T (n.-98-20975A>T)
n.4885A>T
n.4926A>T
 ClinVar dbSNP
17g.43071165T>CCA500231866BRCA1c.4746A>G (p.Arg1582=)
c.4749A>G (p.Arg1583=)
c.4623A>G (p.Arg1541=)
c.4743A>G (p.Arg1581=)
c.4671A>G (p.Arg1557=)
c.1437A>G (p.Arg479=)
c.1299A>G (p.Arg433=)
c.3861A>G (p.Arg1287=)
c.4626A>G (p.Arg1542=)
c.4815A>G (p.Arg1605=)
c.4608A>G (p.Arg1536=)
c.1311A>G (p.Arg437=)
c.1356A>G (p.Arg452=)
c.4812A>G (p.Arg1604=)
c.1136A>G
c.1323A>G (p.Arg441=)
c.*4532A>G (n.*4532A>G)
c.1062A>G (p.Arg354=)
c.5-7214A>G (n.5-7214A>G)
c.222A>G (p.Arg74=)
c.-98-20975A>G (n.-98-20975A>G)
n.4885A>G
n.4926A>G
 ClinVar dbSNP
17g.43071165T>GCA10592011BRCA1c.4746A>C (p.Arg1582Ser)
c.4749A>C (p.Arg1583Ser)
c.4623A>C (p.Arg1541Ser)
c.4743A>C (p.Arg1581Ser)
c.4671A>C (p.Arg1557Ser)
c.1437A>C (p.Arg479Ser)
c.1299A>C (p.Arg433Ser)
c.3861A>C (p.Arg1287Ser)
c.4626A>C (p.Arg1542Ser)
c.4815A>C (p.Arg1605Ser)
c.4608A>C (p.Arg1536Ser)
c.1311A>C (p.Arg437Ser)
c.1356A>C (p.Arg452Ser)
c.4812A>C (p.Arg1604Ser)
c.1136A>C
c.1323A>C (p.Arg441Ser)
c.*4532A>C (n.*4532A>C)
c.1062A>C (p.Arg354Ser)
c.5-7214A>C (n.5-7214A>C)
c.222A>C (p.Arg74Ser)
c.-98-20975A>C (n.-98-20975A>C)
n.4885A>C
n.4926A>C
17g.43071165T=CA2260772978BRCA1c.4746A= (p.Arg1582=)
c.4749A= (p.Arg1583=)
c.4623A= (p.Arg1541=)
c.4743A= (p.Arg1581=)
c.4671A= (p.Arg1557=)
c.1437A= (p.Arg479=)
c.1299A= (p.Arg433=)
c.3861A= (p.Arg1287=)
c.4626A= (p.Arg1542=)
c.4815A= (p.Arg1605=)
c.4608A= (p.Arg1536=)
c.1311A= (p.Arg437=)
c.1356A= (p.Arg452=)
c.4812A= (p.Arg1604=)
c.1136A=
c.1323A= (p.Arg441=)
c.*4532A= (n.*4532A=)
c.1062A= (p.Arg354=)
c.5-7214A= (n.5-7214A=)
c.222A= (p.Arg74=)
c.-98-20975A= (n.-98-20975A=)
n.4885A=
n.4926A=
17g.43071166C>ACA10592012BRCA1c.4745G>T (p.Arg1582Ile)
c.4748G>T (p.Arg1583Ile)
c.4622G>T (p.Arg1541Ile)
c.4742G>T (p.Arg1581Ile)
c.4670G>T (p.Arg1557Ile)
c.1436G>T (p.Arg479Ile)
c.1298G>T (p.Arg433Ile)
c.3860G>T (p.Arg1287Ile)
c.4625G>T (p.Arg1542Ile)
c.4814G>T (p.Arg1605Ile)
c.4607G>T (p.Arg1536Ile)
c.1310G>T (p.Arg437Ile)
c.1355G>T (p.Arg452Ile)
c.4811G>T (p.Arg1604Ile)
c.1135G>T
c.1322G>T (p.Arg441Ile)
c.*4531G>T (n.*4531G>T)
c.1061G>T (p.Arg354Ile)
c.5-7215G>T (n.5-7215G>T)
c.221G>T (p.Arg74Ile)
c.-98-20976G>T (n.-98-20976G>T)
n.4884G>T
n.4925G>T
 dbSNP
17g.43071166C=CA2260772979BRCA1c.4745G= (p.Arg1582=)
c.4748G= (p.Arg1583=)
c.4622G= (p.Arg1541=)
c.4742G= (p.Arg1581=)
c.4670G= (p.Arg1557=)
c.1436G= (p.Arg479=)
c.1298G= (p.Arg433=)
c.3860G= (p.Arg1287=)
c.4625G= (p.Arg1542=)
c.4814G= (p.Arg1605=)
c.4607G= (p.Arg1536=)
c.1310G= (p.Arg437=)
c.1355G= (p.Arg452=)
c.4811G= (p.Arg1604=)
c.1135G=
c.1322G= (p.Arg441=)
c.*4531G= (n.*4531G=)
c.1061G= (p.Arg354=)
c.5-7215G= (n.5-7215G=)
c.221G= (p.Arg74=)
c.-98-20976G= (n.-98-20976G=)
n.4884G=
n.4925G=
17g.43071166C>GCA10592013BRCA1c.4745G>C (p.Arg1582Thr)
c.4748G>C (p.Arg1583Thr)
c.4622G>C (p.Arg1541Thr)
c.4742G>C (p.Arg1581Thr)
c.4670G>C (p.Arg1557Thr)
c.1436G>C (p.Arg479Thr)
c.1298G>C (p.Arg433Thr)
c.3860G>C (p.Arg1287Thr)
c.4625G>C (p.Arg1542Thr)
c.4814G>C (p.Arg1605Thr)
c.4607G>C (p.Arg1536Thr)
c.1310G>C (p.Arg437Thr)
c.1355G>C (p.Arg452Thr)
c.4811G>C (p.Arg1604Thr)
c.1135G>C
c.1322G>C (p.Arg441Thr)
c.*4531G>C (n.*4531G>C)
c.1061G>C (p.Arg354Thr)
c.5-7215G>C (n.5-7215G>C)
c.221G>C (p.Arg74Thr)
c.-98-20976G>C (n.-98-20976G>C)
n.4884G>C
n.4925G>C
 ClinVar dbSNP gnomAD v4
17g.43071166C>TCA052895BRCA1c.4745G>A (p.Arg1582Lys)
c.4748G>A (p.Arg1583Lys)
c.4622G>A (p.Arg1541Lys)
c.4742G>A (p.Arg1581Lys)
c.4670G>A (p.Arg1557Lys)
c.1436G>A (p.Arg479Lys)
c.1298G>A (p.Arg433Lys)
c.3860G>A (p.Arg1287Lys)
c.4625G>A (p.Arg1542Lys)
c.4814G>A (p.Arg1605Lys)
c.4607G>A (p.Arg1536Lys)
c.1310G>A (p.Arg437Lys)
c.1355G>A (p.Arg452Lys)
c.4811G>A (p.Arg1604Lys)
c.1135G>A
c.1322G>A (p.Arg441Lys)
c.*4531G>A (n.*4531G>A)
c.1061G>A (p.Arg354Lys)
c.5-7215G>A (n.5-7215G>A)
c.221G>A (p.Arg74Lys)
c.-98-20976G>A (n.-98-20976G>A)
n.4884G>A
n.4925G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43071167T>ACA10592014BRCA1c.4744A>T (p.Arg1582Ter)
c.4747A>T (p.Arg1583Ter)
c.4621A>T (p.Arg1541Ter)
c.4741A>T (p.Arg1581Ter)
c.4669A>T (p.Arg1557Ter)
c.1435A>T (p.Arg479Ter)
c.1297A>T (p.Arg433Ter)
c.3859A>T (p.Arg1287Ter)
c.4624A>T (p.Arg1542Ter)
c.4813A>T (p.Arg1605Ter)
c.4606A>T (p.Arg1536Ter)
c.1309A>T (p.Arg437Ter)
c.1354A>T (p.Arg452Ter)
c.4810A>T (p.Arg1604Ter)
c.1134A>T
c.1321A>T (p.Arg441Ter)
c.*4530A>T (n.*4530A>T)
c.1060A>T (p.Arg354Ter)
c.5-7216A>T (n.5-7216A>T)
c.220A>T (p.Arg74Ter)
c.-98-20977A>T (n.-98-20977A>T)
n.4883A>T
n.4924A>T
 dbSNP
17g.43071167T>CCA10592015BRCA1c.4744A>G (p.Arg1582Gly)
c.4747A>G (p.Arg1583Gly)
c.4621A>G (p.Arg1541Gly)
c.4741A>G (p.Arg1581Gly)
c.4669A>G (p.Arg1557Gly)
c.1435A>G (p.Arg479Gly)
c.1297A>G (p.Arg433Gly)
c.3859A>G (p.Arg1287Gly)
c.4624A>G (p.Arg1542Gly)
c.4813A>G (p.Arg1605Gly)
c.4606A>G (p.Arg1536Gly)
c.1309A>G (p.Arg437Gly)
c.1354A>G (p.Arg452Gly)
c.4810A>G (p.Arg1604Gly)
c.1134A>G
c.1321A>G (p.Arg441Gly)
c.*4530A>G (n.*4530A>G)
c.1060A>G (p.Arg354Gly)
c.5-7216A>G (n.5-7216A>G)
c.220A>G (p.Arg74Gly)
c.-98-20977A>G (n.-98-20977A>G)
n.4883A>G
n.4924A>G
 ClinVar dbSNP
17g.43071167T>GCA500231867BRCA1c.4744A>C (p.Arg1582=)
c.4747A>C (p.Arg1583=)
c.4621A>C (p.Arg1541=)
c.4741A>C (p.Arg1581=)
c.4669A>C (p.Arg1557=)
c.1435A>C (p.Arg479=)
c.1297A>C (p.Arg433=)
c.3859A>C (p.Arg1287=)
c.4624A>C (p.Arg1542=)
c.4813A>C (p.Arg1605=)
c.4606A>C (p.Arg1536=)
c.1309A>C (p.Arg437=)
c.1354A>C (p.Arg452=)
c.4810A>C (p.Arg1604=)
c.1134A>C
c.1321A>C (p.Arg441=)
c.*4530A>C (n.*4530A>C)
c.1060A>C (p.Arg354=)
c.5-7216A>C (n.5-7216A>C)
c.220A>C (p.Arg74=)
c.-98-20977A>C (n.-98-20977A>C)
n.4883A>C
n.4924A>C
 dbSNP
17g.43071167T=CA2260772980BRCA1c.4744A= (p.Arg1582=)
c.4747A= (p.Arg1583=)
c.4621A= (p.Arg1541=)
c.4741A= (p.Arg1581=)
c.4669A= (p.Arg1557=)
c.1435A= (p.Arg479=)
c.1297A= (p.Arg433=)
c.3859A= (p.Arg1287=)
c.4624A= (p.Arg1542=)
c.4813A= (p.Arg1605=)
c.4606A= (p.Arg1536=)
c.1309A= (p.Arg437=)
c.1354A= (p.Arg452=)
c.4810A= (p.Arg1604=)
c.1134A=
c.1321A= (p.Arg441=)
c.*4530A= (n.*4530A=)
c.1060A= (p.Arg354=)
c.5-7216A= (n.5-7216A=)
c.220A= (p.Arg74=)
c.-98-20977A= (n.-98-20977A=)
n.4883A=
n.4924A=
17g.43071168G>ACA500231868BRCA1c.4743C>T (p.Asp1581=)
c.4746C>T (p.Asp1582=)
c.4620C>T (p.Asp1540=)
c.4740C>T (p.Asp1580=)
c.4668C>T (p.Asp1556=)
c.1434C>T (p.Asp478=)
c.1296C>T (p.Asp432=)
c.3858C>T (p.Asp1286=)
c.4623C>T (p.Asp1541=)
c.4812C>T (p.Asp1604=)
c.4605C>T (p.Asp1535=)
c.1308C>T (p.Asp436=)
c.1353C>T (p.Asp451=)
c.4809C>T (p.Asp1603=)
c.1133C>T
c.1320C>T (p.Asp440=)
c.*4529C>T (n.*4529C>T)
c.1059C>T (p.Asp353=)
c.5-7217C>T (n.5-7217C>T)
c.219C>T (p.Asp73=)
c.-98-20978C>T (n.-98-20978C>T)
n.4882C>T
n.4923C>T
 ClinVar dbSNP gnomAD v2
17g.43071168G>CCA10592016BRCA1c.4743C>G (p.Asp1581Glu)
c.4746C>G (p.Asp1582Glu)
c.4620C>G (p.Asp1540Glu)
c.4740C>G (p.Asp1580Glu)
c.4668C>G (p.Asp1556Glu)
c.1434C>G (p.Asp478Glu)
c.1296C>G (p.Asp432Glu)
c.3858C>G (p.Asp1286Glu)
c.4623C>G (p.Asp1541Glu)
c.4812C>G (p.Asp1604Glu)
c.4605C>G (p.Asp1535Glu)
c.1308C>G (p.Asp436Glu)
c.1353C>G (p.Asp451Glu)
c.4809C>G (p.Asp1603Glu)
c.1133C>G
c.1320C>G (p.Asp440Glu)
c.*4529C>G (n.*4529C>G)
c.1059C>G (p.Asp353Glu)
c.5-7217C>G (n.5-7217C>G)
c.219C>G (p.Asp73Glu)
c.-98-20978C>G (n.-98-20978C>G)
n.4882C>G
n.4923C>G
 ClinVar dbSNP
17g.43071168G>TCA10592017BRCA1c.4743C>A (p.Asp1581Glu)
c.4746C>A (p.Asp1582Glu)
c.4620C>A (p.Asp1540Glu)
c.4740C>A (p.Asp1580Glu)
c.4668C>A (p.Asp1556Glu)
c.1434C>A (p.Asp478Glu)
c.1296C>A (p.Asp432Glu)
c.3858C>A (p.Asp1286Glu)
c.4623C>A (p.Asp1541Glu)
c.4812C>A (p.Asp1604Glu)
c.4605C>A (p.Asp1535Glu)
c.1308C>A (p.Asp436Glu)
c.1353C>A (p.Asp451Glu)
c.4809C>A (p.Asp1603Glu)
c.1133C>A
c.1320C>A (p.Asp440Glu)
c.*4529C>A (n.*4529C>A)
c.1059C>A (p.Asp353Glu)
c.5-7217C>A (n.5-7217C>A)
c.219C>A (p.Asp73Glu)
c.-98-20978C>A (n.-98-20978C>A)
n.4882C>A
n.4923C>A
 COSMIC COSMIC
17g.43071168_43071169delinsGTCA2260772981BRCA1c.4742_4743delinsAC (p.Asp1581=)
c.4745_4746delinsAC (p.Asp1582=)
c.4619_4620delinsAC (p.Asp1540=)
c.4739_4740delinsAC (p.Asp1580=)
c.4667_4668delinsAC (p.Asp1556=)
c.1433_1434delinsAC (p.Asp478=)
c.1295_1296delinsAC (p.Asp432=)
c.3857_3858delinsAC (p.Asp1286=)
c.4622_4623delinsAC (p.Asp1541=)
c.4811_4812delinsAC (p.Asp1604=)
c.4604_4605delinsAC (p.Asp1535=)
c.1307_1308delinsAC (p.Asp436=)
c.1352_1353delinsAC (p.Asp451=)
c.4808_4809delinsAC (p.Asp1603=)
c.1132_1133delinsAC
c.1319_1320delinsAC (p.Asp440=)
c.*4528_*4529delinsAC (n.*4528_*4529delinsAC)
c.1058_1059delinsAC (p.Asp353=)
c.5-7218_5-7217delinsAC (n.5-7218_5-7217delinsAC)
c.218_219delinsAC (p.Asp73=)
c.-98-20979_-98-20978delinsAC (n.-98-20979_-98-20978delinsAC)
n.4881_4882delinsAC
n.4922_4923delinsAC
17g.43071169delCA003003BRCA1c.4742del (p.Asp1581AlafsTer19)
c.4745del (p.Asp1582AlafsTer19)
c.4619del (p.Asp1540AlafsTer19)
c.4739del (p.Asp1580AlafsTer19)
c.4667del (p.Asp1556AlafsTer19)
c.1433del (p.Asp478AlafsTer19)
c.1295del (p.Asp432AlafsTer19)
c.3857del (p.Asp1286AlafsTer19)
c.4622del (p.Asp1541AlafsTer19)
c.4811del (p.Asp1604AlafsTer19)
c.4604del (p.Asp1535AlafsTer19)
c.1307del (p.Asp436AlafsTer19)
c.1352del (p.Asp451AlafsTer19)
c.4808del (p.Asp1603AlafsTer19)
c.1132del
c.1319del (p.Asp440AlafsTer19)
c.*4528del (n.*4528del)
c.1058del (p.Asp353AlafsTer19)
c.5-7218del (n.5-7218del)
c.218del (p.Asp73AlafsTer19)
c.-98-20979del (n.-98-20979del)
n.4881del
n.4922del
 ClinVar dbSNP gnomAD v2
17g.43071169T>ACA10592018BRCA1c.4742A>T (p.Asp1581Val)
c.4745A>T (p.Asp1582Val)
c.4619A>T (p.Asp1540Val)
c.4739A>T (p.Asp1580Val)
c.4667A>T (p.Asp1556Val)
c.1433A>T (p.Asp478Val)
c.1295A>T (p.Asp432Val)
c.3857A>T (p.Asp1286Val)
c.4622A>T (p.Asp1541Val)
c.4811A>T (p.Asp1604Val)
c.4604A>T (p.Asp1535Val)
c.1307A>T (p.Asp436Val)
c.1352A>T (p.Asp451Val)
c.4808A>T (p.Asp1603Val)
c.1132A>T
c.1319A>T (p.Asp440Val)
c.*4528A>T (n.*4528A>T)
c.1058A>T (p.Asp353Val)
c.5-7218A>T (n.5-7218A>T)
c.218A>T (p.Asp73Val)
c.-98-20979A>T (n.-98-20979A>T)
n.4881A>T
n.4922A>T
 dbSNP
17g.43071169T>CCA10592019BRCA1c.4742A>G (p.Asp1581Gly)
c.4745A>G (p.Asp1582Gly)
c.4619A>G (p.Asp1540Gly)
c.4739A>G (p.Asp1580Gly)
c.4667A>G (p.Asp1556Gly)
c.1433A>G (p.Asp478Gly)
c.1295A>G (p.Asp432Gly)
c.3857A>G (p.Asp1286Gly)
c.4622A>G (p.Asp1541Gly)
c.4811A>G (p.Asp1604Gly)
c.4604A>G (p.Asp1535Gly)
c.1307A>G (p.Asp436Gly)
c.1352A>G (p.Asp451Gly)
c.4808A>G (p.Asp1603Gly)
c.1132A>G
c.1319A>G (p.Asp440Gly)
c.*4528A>G (n.*4528A>G)
c.1058A>G (p.Asp353Gly)
c.5-7218A>G (n.5-7218A>G)
c.218A>G (p.Asp73Gly)
c.-98-20979A>G (n.-98-20979A>G)
n.4881A>G
n.4922A>G
 ClinVar
17g.43071169T>GCA10592020BRCA1c.4742A>C (p.Asp1581Ala)
c.4745A>C (p.Asp1582Ala)
c.4619A>C (p.Asp1540Ala)
c.4739A>C (p.Asp1580Ala)
c.4667A>C (p.Asp1556Ala)
c.1433A>C (p.Asp478Ala)
c.1295A>C (p.Asp432Ala)
c.3857A>C (p.Asp1286Ala)
c.4622A>C (p.Asp1541Ala)
c.4811A>C (p.Asp1604Ala)
c.4604A>C (p.Asp1535Ala)
c.1307A>C (p.Asp436Ala)
c.1352A>C (p.Asp451Ala)
c.4808A>C (p.Asp1603Ala)
c.1132A>C
c.1319A>C (p.Asp440Ala)
c.*4528A>C (n.*4528A>C)
c.1058A>C (p.Asp353Ala)
c.5-7218A>C (n.5-7218A>C)
c.218A>C (p.Asp73Ala)
c.-98-20979A>C (n.-98-20979A>C)
n.4881A>C
n.4922A>C
 dbSNP
17g.43071169T=CA2581309321BRCA1c.4742A= (p.Asp1581=)
c.4745A= (p.Asp1582=)
c.4619A= (p.Asp1540=)
c.4739A= (p.Asp1580=)
c.4667A= (p.Asp1556=)
c.1433A= (p.Asp478=)
c.1295A= (p.Asp432=)
c.3857A= (p.Asp1286=)
c.4622A= (p.Asp1541=)
c.4811A= (p.Asp1604=)
c.4604A= (p.Asp1535=)
c.1307A= (p.Asp436=)
c.1352A= (p.Asp451=)
c.4808A= (p.Asp1603=)
c.1132A=
c.1319A= (p.Asp440=)
c.*4528A= (n.*4528A=)
c.1058A= (p.Asp353=)
c.5-7218A= (n.5-7218A=)
c.218A= (p.Asp73=)
c.-98-20979A= (n.-98-20979A=)
n.4881A=
n.4922A=
17g.43071170C>ACA10592021BRCA1c.4741G>T (p.Asp1581Tyr)
c.4744G>T (p.Asp1582Tyr)
c.4618G>T (p.Asp1540Tyr)
c.4738G>T (p.Asp1580Tyr)
c.4666G>T (p.Asp1556Tyr)
c.1432G>T (p.Asp478Tyr)
c.1294G>T (p.Asp432Tyr)
c.3856G>T (p.Asp1286Tyr)
c.4621G>T (p.Asp1541Tyr)
c.4810G>T (p.Asp1604Tyr)
c.4603G>T (p.Asp1535Tyr)
c.1306G>T (p.Asp436Tyr)
c.1351G>T (p.Asp451Tyr)
c.4807G>T (p.Asp1603Tyr)
c.1131G>T
c.1318G>T (p.Asp440Tyr)
c.*4527G>T (n.*4527G>T)
c.1057G>T (p.Asp353Tyr)
c.5-7219G>T (n.5-7219G>T)
c.217G>T (p.Asp73Tyr)
c.-98-20980G>T (n.-98-20980G>T)
n.4880G>T
n.4921G>T
 gnomAD v4
17g.43071170C>GCA10592022BRCA1c.4741G>C (p.Asp1581His)
c.4744G>C (p.Asp1582His)
c.4618G>C (p.Asp1540His)
c.4738G>C (p.Asp1580His)
c.4666G>C (p.Asp1556His)
c.1432G>C (p.Asp478His)
c.1294G>C (p.Asp432His)
c.3856G>C (p.Asp1286His)
c.4621G>C (p.Asp1541His)
c.4810G>C (p.Asp1604His)
c.4603G>C (p.Asp1535His)
c.1306G>C (p.Asp436His)
c.1351G>C (p.Asp451His)
c.4807G>C (p.Asp1603His)
c.1131G>C
c.1318G>C (p.Asp440His)
c.*4527G>C (n.*4527G>C)
c.1057G>C (p.Asp353His)
c.5-7219G>C (n.5-7219G>C)
c.217G>C (p.Asp73His)
c.-98-20980G>C (n.-98-20980G>C)
n.4880G>C
n.4921G>C
 dbSNP
17g.43071170C>TCA10592023BRCA1c.4741G>A (p.Asp1581Asn)
c.4744G>A (p.Asp1582Asn)
c.4618G>A (p.Asp1540Asn)
c.4738G>A (p.Asp1580Asn)
c.4666G>A (p.Asp1556Asn)
c.1432G>A (p.Asp478Asn)
c.1294G>A (p.Asp432Asn)
c.3856G>A (p.Asp1286Asn)
c.4621G>A (p.Asp1541Asn)
c.4810G>A (p.Asp1604Asn)
c.4603G>A (p.Asp1535Asn)
c.1306G>A (p.Asp436Asn)
c.1351G>A (p.Asp451Asn)
c.4807G>A (p.Asp1603Asn)
c.1131G>A
c.1318G>A (p.Asp440Asn)
c.*4527G>A (n.*4527G>A)
c.1057G>A (p.Asp353Asn)
c.5-7219G>A (n.5-7219G>A)
c.217G>A (p.Asp73Asn)
c.-98-20980G>A (n.-98-20980G>A)
n.4880G>A
n.4921G>A
 ClinVar dbSNP
17g.43071170delinsGGCA2580094180BRCA1c.4741delinsCC (p.Asp1581ProfsTer?)
c.4744delinsCC (p.Asp1582ProfsTer?)
c.4618delinsCC (p.Asp1540ProfsTer?)
c.4738delinsCC (p.Asp1580ProfsTer?)
c.4666delinsCC (p.Asp1556ProfsTer?)
c.1432delinsCC (p.Asp478ProfsTer?)
c.1294delinsCC (p.Asp432ProfsTer?)
c.3856delinsCC (p.Asp1286ProfsTer?)
c.4621delinsCC (p.Asp1541ProfsTer?)
c.4810delinsCC (p.Asp1604ProfsTer?)
c.4603delinsCC (p.Asp1535ProfsTer?)
c.1306delinsCC (p.Asp436ProfsTer?)
c.1351delinsCC (p.Asp451ProfsTer?)
c.4807delinsCC (p.Asp1603ProfsTer?)
c.1131delinsCC
c.1318delinsCC (p.Asp440ProfsTer?)
c.*4527delinsCC (n.*4527delinsCC)
c.1057delinsCC (p.Asp353ProfsTer?)
c.5-7219delinsCC (n.5-7219delinsCC)
c.217delinsCC (p.Asp73ProfsTer?)
c.-98-20980delinsCC (n.-98-20980delinsCC)
n.4880delinsCC
n.4921delinsCC
 ClinVar
17g.43071170_43071171delinsCTCA2260772982BRCA1c.4740_4741delinsAG (p.Glu1580=)
c.4743_4744delinsAG (p.Glu1581=)
c.4617_4618delinsAG (p.Glu1539=)
c.4737_4738delinsAG (p.Glu1579=)
c.4665_4666delinsAG (p.Glu1555=)
c.1431_1432delinsAG (p.Glu477=)
c.1293_1294delinsAG (p.Glu431=)
c.3855_3856delinsAG (p.Glu1285=)
c.4620_4621delinsAG (p.Glu1540=)
c.4809_4810delinsAG (p.Glu1603=)
c.4602_4603delinsAG (p.Glu1534=)
c.1305_1306delinsAG (p.Glu435=)
c.1350_1351delinsAG (p.Glu450=)
c.4806_4807delinsAG (p.Glu1602=)
c.1130_1131delinsAG
c.1317_1318delinsAG (p.Glu439=)
c.*4526_*4527delinsAG (n.*4526_*4527delinsAG)
c.1056_1057delinsAG (p.Glu352=)
c.5-7220_5-7219delinsAG (n.5-7220_5-7219delinsAG)
c.216_217delinsAG (p.Glu72=)
c.-98-20981_-98-20980delinsAG (n.-98-20981_-98-20980delinsAG)
n.4879_4880delinsAG
n.4920_4921delinsAG
17g.43071170_43071200delCA2695225910BRCA1c.4711_4741del (p.Ser1571ThrfsTer19)
c.4714_4744del (p.Ser1572ThrfsTer19)
c.4588_4618del (p.Ser1530ThrfsTer19)
c.4708_4738del (p.Ser1570ThrfsTer19)
c.4636_4666del (p.Ser1546ThrfsTer19)
c.1402_1432del (p.Ser468ThrfsTer19)
c.1264_1294del (p.Ser422ThrfsTer19)
c.3826_3856del (p.Ser1276ThrfsTer19)
c.4591_4621del (p.Ser1531ThrfsTer19)
c.4780_4810del (p.Ser1594ThrfsTer19)
c.4573_4603del (p.Ser1525ThrfsTer19)
c.1276_1306del (p.Ser426ThrfsTer19)
c.1321_1351del (p.Ser441ThrfsTer19)
c.4777_4807del (p.Ser1593ThrfsTer19)
c.1101_1131del
c.1288_1318del (p.Ser430ThrfsTer19)
c.*4497_*4527del (n.*4497_*4527del)
c.1027_1057del (p.Ser343ThrfsTer19)
c.5-7249_5-7219del (n.5-7249_5-7219del)
c.187_217del (p.Ser63ThrfsTer19)
c.-98-21010_-98-20980del (n.-98-21010_-98-20980del)
n.4850_4880del
n.4891_4921del
17g.43071171T>ACA10592024BRCA1c.4740A>T (p.Glu1580Asp)
c.4743A>T (p.Glu1581Asp)
c.4617A>T (p.Glu1539Asp)
c.4737A>T (p.Glu1579Asp)
c.4665A>T (p.Glu1555Asp)
c.1431A>T (p.Glu477Asp)
c.1293A>T (p.Glu431Asp)
c.3855A>T (p.Glu1285Asp)
c.4620A>T (p.Glu1540Asp)
c.4809A>T (p.Glu1603Asp)
c.4602A>T (p.Glu1534Asp)
c.1305A>T (p.Glu435Asp)
c.1350A>T (p.Glu450Asp)
c.4806A>T (p.Glu1602Asp)
c.1130A>T
c.1317A>T (p.Glu439Asp)
c.*4526A>T (n.*4526A>T)
c.1056A>T (p.Glu352Asp)
c.5-7220A>T (n.5-7220A>T)
c.216A>T (p.Glu72Asp)
c.-98-20981A>T (n.-98-20981A>T)
n.4879A>T
n.4920A>T
 dbSNP
17g.43071171T>CCA003002BRCA1c.4740A>G (p.Glu1580=)
c.4743A>G (p.Glu1581=)
c.4617A>G (p.Glu1539=)
c.4737A>G (p.Glu1579=)
c.4665A>G (p.Glu1555=)
c.1431A>G (p.Glu477=)
c.1293A>G (p.Glu431=)
c.3855A>G (p.Glu1285=)
c.4620A>G (p.Glu1540=)
c.4809A>G (p.Glu1603=)
c.4602A>G (p.Glu1534=)
c.1305A>G (p.Glu435=)
c.1350A>G (p.Glu450=)
c.4806A>G (p.Glu1602=)
c.1130A>G
c.1317A>G (p.Glu439=)
c.*4526A>G (n.*4526A>G)
c.1056A>G (p.Glu352=)
c.5-7220A>G (n.5-7220A>G)
c.216A>G (p.Glu72=)
c.-98-20981A>G (n.-98-20981A>G)
n.4879A>G
n.4920A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43071171T>GCA003001BRCA1c.4740A>C (p.Glu1580Asp)
c.4743A>C (p.Glu1581Asp)
c.4617A>C (p.Glu1539Asp)
c.4737A>C (p.Glu1579Asp)
c.4665A>C (p.Glu1555Asp)
c.1431A>C (p.Glu477Asp)
c.1293A>C (p.Glu431Asp)
c.3855A>C (p.Glu1285Asp)
c.4620A>C (p.Glu1540Asp)
c.4809A>C (p.Glu1603Asp)
c.4602A>C (p.Glu1534Asp)
c.1305A>C (p.Glu435Asp)
c.1350A>C (p.Glu450Asp)
c.4806A>C (p.Glu1602Asp)
c.1130A>C
c.1317A>C (p.Glu439Asp)
c.*4526A>C (n.*4526A>C)
c.1056A>C (p.Glu352Asp)
c.5-7220A>C (n.5-7220A>C)
c.216A>C (p.Glu72Asp)
c.-98-20981A>C (n.-98-20981A>C)
n.4879A>C
n.4920A>C
 ClinVar dbSNP
17g.43071171T=CA2260772983BRCA1c.4740A= (p.Glu1580=)
c.4743A= (p.Glu1581=)
c.4617A= (p.Glu1539=)
c.4737A= (p.Glu1579=)
c.4665A= (p.Glu1555=)
c.1431A= (p.Glu477=)
c.1293A= (p.Glu431=)
c.3855A= (p.Glu1285=)
c.4620A= (p.Glu1540=)
c.4809A= (p.Glu1603=)
c.4602A= (p.Glu1534=)
c.1305A= (p.Glu435=)
c.1350A= (p.Glu450=)
c.4806A= (p.Glu1602=)
c.1130A=
c.1317A= (p.Glu439=)
c.*4526A= (n.*4526A=)
c.1056A= (p.Glu352=)
c.5-7220A= (n.5-7220A=)
c.216A= (p.Glu72=)
c.-98-20981A= (n.-98-20981A=)
n.4879A=
n.4920A=
17g.43071172delCA10589646BRCA1c.4740del (p.Asp1581ThrfsTer19)
c.4743del (p.Asp1582ThrfsTer19)
c.4617del (p.Asp1540ThrfsTer19)
c.4737del (p.Asp1580ThrfsTer19)
c.4665del (p.Asp1556ThrfsTer19)
c.1431del (p.Asp478ThrfsTer19)
c.1293del (p.Asp432ThrfsTer19)
c.3855del (p.Asp1286ThrfsTer19)
c.4620del (p.Asp1541ThrfsTer19)
c.4809del (p.Asp1604ThrfsTer19)
c.4602del (p.Asp1535ThrfsTer19)
c.1305del (p.Asp436ThrfsTer19)
c.1350del (p.Asp451ThrfsTer19)
c.4806del (p.Asp1603ThrfsTer19)
c.1130del
c.1317del (p.Asp440ThrfsTer19)
c.*4526del (n.*4526del)
c.1056del (p.Asp353ThrfsTer19)
c.5-7220del (n.5-7220del)
c.216del (p.Asp73ThrfsTer19)
c.-98-20981del (n.-98-20981del)
n.4879del
n.4920del
 ClinVar dbSNP
17g.43071172T>ACA10592025BRCA1c.4739A>T (p.Glu1580Val)
c.4742A>T (p.Glu1581Val)
c.4616A>T (p.Glu1539Val)
c.4736A>T (p.Glu1579Val)
c.4664A>T (p.Glu1555Val)
c.1430A>T (p.Glu477Val)
c.1292A>T (p.Glu431Val)
c.3854A>T (p.Glu1285Val)
c.4619A>T (p.Glu1540Val)
c.4808A>T (p.Glu1603Val)
c.4601A>T (p.Glu1534Val)
c.1304A>T (p.Glu435Val)
c.1349A>T (p.Glu450Val)
c.4805A>T (p.Glu1602Val)
c.1129A>T
c.1316A>T (p.Glu439Val)
c.*4525A>T (n.*4525A>T)
c.1055A>T (p.Glu352Val)
c.5-7221A>T (n.5-7221A>T)
c.215A>T (p.Glu72Val)
c.-98-20982A>T (n.-98-20982A>T)
n.4878A>T
n.4919A>T
 dbSNP
17g.43071172T>CCA10592026BRCA1c.4739A>G (p.Glu1580Gly)
c.4742A>G (p.Glu1581Gly)
c.4616A>G (p.Glu1539Gly)
c.4736A>G (p.Glu1579Gly)
c.4664A>G (p.Glu1555Gly)
c.1430A>G (p.Glu477Gly)
c.1292A>G (p.Glu431Gly)
c.3854A>G (p.Glu1285Gly)
c.4619A>G (p.Glu1540Gly)
c.4808A>G (p.Glu1603Gly)
c.4601A>G (p.Glu1534Gly)
c.1304A>G (p.Glu435Gly)
c.1349A>G (p.Glu450Gly)
c.4805A>G (p.Glu1602Gly)
c.1129A>G
c.1316A>G (p.Glu439Gly)
c.*4525A>G (n.*4525A>G)
c.1055A>G (p.Glu352Gly)
c.5-7221A>G (n.5-7221A>G)
c.215A>G (p.Glu72Gly)
c.-98-20982A>G (n.-98-20982A>G)
n.4878A>G
n.4919A>G
17g.43071172T>GCA10592027BRCA1c.4739A>C (p.Glu1580Ala)
c.4742A>C (p.Glu1581Ala)
c.4616A>C (p.Glu1539Ala)
c.4736A>C (p.Glu1579Ala)
c.4664A>C (p.Glu1555Ala)
c.1430A>C (p.Glu477Ala)
c.1292A>C (p.Glu431Ala)
c.3854A>C (p.Glu1285Ala)
c.4619A>C (p.Glu1540Ala)
c.4808A>C (p.Glu1603Ala)
c.4601A>C (p.Glu1534Ala)
c.1304A>C (p.Glu435Ala)
c.1349A>C (p.Glu450Ala)
c.4805A>C (p.Glu1602Ala)
c.1129A>C
c.1316A>C (p.Glu439Ala)
c.*4525A>C (n.*4525A>C)
c.1055A>C (p.Glu352Ala)
c.5-7221A>C (n.5-7221A>C)
c.215A>C (p.Glu72Ala)
c.-98-20982A>C (n.-98-20982A>C)
n.4878A>C
n.4919A>C
17g.43071173C>ACA003000BRCA1c.4738G>T (p.Glu1580Ter)
c.4741G>T (p.Glu1581Ter)
c.4615G>T (p.Glu1539Ter)
c.4735G>T (p.Glu1579Ter)
c.4663G>T (p.Glu1555Ter)
c.1429G>T (p.Glu477Ter)
c.1291G>T (p.Glu431Ter)
c.3853G>T (p.Glu1285Ter)
c.4618G>T (p.Glu1540Ter)
c.4807G>T (p.Glu1603Ter)
c.4600G>T (p.Glu1534Ter)
c.1303G>T (p.Glu435Ter)
c.1348G>T (p.Glu450Ter)
c.4804G>T (p.Glu1602Ter)
c.1128G>T
c.1315G>T (p.Glu439Ter)
c.*4524G>T (n.*4524G>T)
c.1054G>T (p.Glu352Ter)
c.5-7222G>T (n.5-7222G>T)
c.214G>T (p.Glu72Ter)
c.-98-20983G>T (n.-98-20983G>T)
n.4877G>T
n.4918G>T
 ClinVar dbSNP
17g.43071173C=CA2260772984BRCA1c.4738G= (p.Glu1580=)
c.4741G= (p.Glu1581=)
c.4615G= (p.Glu1539=)
c.4735G= (p.Glu1579=)
c.4663G= (p.Glu1555=)
c.1429G= (p.Glu477=)
c.1291G= (p.Glu431=)
c.3853G= (p.Glu1285=)
c.4618G= (p.Glu1540=)
c.4807G= (p.Glu1603=)
c.4600G= (p.Glu1534=)
c.1303G= (p.Glu435=)
c.1348G= (p.Glu450=)
c.4804G= (p.Glu1602=)
c.1128G=
c.1315G= (p.Glu439=)
c.*4524G= (n.*4524G=)
c.1054G= (p.Glu352=)
c.5-7222G= (n.5-7222G=)
c.214G= (p.Glu72=)
c.-98-20983G= (n.-98-20983G=)
n.4877G=
n.4918G=
17g.43071173C>GCA10592028BRCA1c.4738G>C (p.Glu1580Gln)
c.4741G>C (p.Glu1581Gln)
c.4615G>C (p.Glu1539Gln)
c.4735G>C (p.Glu1579Gln)
c.4663G>C (p.Glu1555Gln)
c.1429G>C (p.Glu477Gln)
c.1291G>C (p.Glu431Gln)
c.3853G>C (p.Glu1285Gln)
c.4618G>C (p.Glu1540Gln)
c.4807G>C (p.Glu1603Gln)
c.4600G>C (p.Glu1534Gln)
c.1303G>C (p.Glu435Gln)
c.1348G>C (p.Glu450Gln)
c.4804G>C (p.Glu1602Gln)
c.1128G>C
c.1315G>C (p.Glu439Gln)
c.*4524G>C (n.*4524G>C)
c.1054G>C (p.Glu352Gln)
c.5-7222G>C (n.5-7222G>C)
c.214G>C (p.Glu72Gln)
c.-98-20983G>C (n.-98-20983G>C)
n.4877G>C
n.4918G>C
 ClinVar dbSNP gnomAD v4
17g.43071173C>TCA10592029BRCA1c.4738G>A (p.Glu1580Lys)
c.4741G>A (p.Glu1581Lys)
c.4615G>A (p.Glu1539Lys)
c.4735G>A (p.Glu1579Lys)
c.4663G>A (p.Glu1555Lys)
c.1429G>A (p.Glu477Lys)
c.1291G>A (p.Glu431Lys)
c.3853G>A (p.Glu1285Lys)
c.4618G>A (p.Glu1540Lys)
c.4807G>A (p.Glu1603Lys)
c.4600G>A (p.Glu1534Lys)
c.1303G>A (p.Glu435Lys)
c.1348G>A (p.Glu450Lys)
c.4804G>A (p.Glu1602Lys)
c.1128G>A
c.1315G>A (p.Glu439Lys)
c.*4524G>A (n.*4524G>A)
c.1054G>A (p.Glu352Lys)
c.5-7222G>A (n.5-7222G>A)
c.214G>A (p.Glu72Lys)
c.-98-20983G>A (n.-98-20983G>A)
n.4877G>A
n.4918G>A
 ClinVar dbSNP gnomAD v4
17g.43071174A=CA2260772985BRCA1c.4737T= (p.Ser1579=)
c.4740T= (p.Ser1580=)
c.4614T= (p.Ser1538=)
c.4734T= (p.Ser1578=)
c.4662T= (p.Ser1554=)
c.1428T= (p.Ser476=)
c.1290T= (p.Ser430=)
c.3852T= (p.Ser1284=)
c.4617T= (p.Ser1539=)
c.4806T= (p.Ser1602=)
c.4599T= (p.Ser1533=)
c.1302T= (p.Ser434=)
c.1347T= (p.Ser449=)
c.4803T= (p.Ser1601=)
c.1127T=
c.1314T= (p.Ser438=)
c.*4523T= (n.*4523T=)
c.1053T= (p.Ser351=)
c.5-7223T= (n.5-7223T=)
c.213T= (p.Ser71=)
c.-98-20984T= (n.-98-20984T=)
n.4876T=
n.4917T=
17g.43071174A>CCA500231869BRCA1c.4737T>G (p.Ser1579=)
c.4740T>G (p.Ser1580=)
c.4614T>G (p.Ser1538=)
c.4734T>G (p.Ser1578=)
c.4662T>G (p.Ser1554=)
c.1428T>G (p.Ser476=)
c.1290T>G (p.Ser430=)
c.3852T>G (p.Ser1284=)
c.4617T>G (p.Ser1539=)
c.4806T>G (p.Ser1602=)
c.4599T>G (p.Ser1533=)
c.1302T>G (p.Ser434=)
c.1347T>G (p.Ser449=)
c.4803T>G (p.Ser1601=)
c.1127T>G
c.1314T>G (p.Ser438=)
c.*4523T>G (n.*4523T>G)
c.1053T>G (p.Ser351=)
c.5-7223T>G (n.5-7223T>G)
c.213T>G (p.Ser71=)
c.-98-20984T>G (n.-98-20984T>G)
n.4876T>G
n.4917T>G
17g.43071174A>GCA052880BRCA1c.4737T>C (p.Ser1579=)
c.4740T>C (p.Ser1580=)
c.4614T>C (p.Ser1538=)
c.4734T>C (p.Ser1578=)
c.4662T>C (p.Ser1554=)
c.1428T>C (p.Ser476=)
c.1290T>C (p.Ser430=)
c.3852T>C (p.Ser1284=)
c.4617T>C (p.Ser1539=)
c.4806T>C (p.Ser1602=)
c.4599T>C (p.Ser1533=)
c.1302T>C (p.Ser434=)
c.1347T>C (p.Ser449=)
c.4803T>C (p.Ser1601=)
c.1127T>C
c.1314T>C (p.Ser438=)
c.*4523T>C (n.*4523T>C)
c.1053T>C (p.Ser351=)
c.5-7223T>C (n.5-7223T>C)
c.213T>C (p.Ser71=)
c.-98-20984T>C (n.-98-20984T>C)
n.4876T>C
n.4917T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43071174A>TCA500231870BRCA1c.4737T>A (p.Ser1579=)
c.4740T>A (p.Ser1580=)
c.4614T>A (p.Ser1538=)
c.4734T>A (p.Ser1578=)
c.4662T>A (p.Ser1554=)
c.1428T>A (p.Ser476=)
c.1290T>A (p.Ser430=)
c.3852T>A (p.Ser1284=)
c.4617T>A (p.Ser1539=)
c.4806T>A (p.Ser1602=)
c.4599T>A (p.Ser1533=)
c.1302T>A (p.Ser434=)
c.1347T>A (p.Ser449=)
c.4803T>A (p.Ser1601=)
c.1127T>A
c.1314T>A (p.Ser438=)
c.*4523T>A (n.*4523T>A)
c.1053T>A (p.Ser351=)
c.5-7223T>A (n.5-7223T>A)
c.213T>A (p.Ser71=)
c.-98-20984T>A (n.-98-20984T>A)
n.4876T>A
n.4917T>A
 dbSNP
17g.43071174_43071178delinsAGAAGCA2260772986BRCA1c.4733_4737delinsCTTCT (p.Pro1578=)
c.4736_4740delinsCTTCT (p.Pro1579=)
c.4610_4614delinsCTTCT (p.Pro1537=)
c.4730_4734delinsCTTCT (p.Pro1577=)
c.4658_4662delinsCTTCT (p.Pro1553=)
c.1424_1428delinsCTTCT (p.Pro475=)
c.1286_1290delinsCTTCT (p.Pro429=)
c.3848_3852delinsCTTCT (p.Pro1283=)
c.4613_4617delinsCTTCT (p.Pro1538=)
c.4802_4806delinsCTTCT (p.Pro1601=)
c.4595_4599delinsCTTCT (p.Pro1532=)
c.1298_1302delinsCTTCT (p.Pro433=)
c.1343_1347delinsCTTCT (p.Pro448=)
c.4799_4803delinsCTTCT (p.Pro1600=)
c.1123_1127delinsCTTCT
c.1310_1314delinsCTTCT (p.Pro437=)
c.*4519_*4523delinsCTTCT (n.*4519_*4523delinsCTTCT)
c.1049_1053delinsCTTCT (p.Pro350=)
c.5-7227_5-7223delinsCTTCT (n.5-7227_5-7223delinsCTTCT)
c.209_213delinsCTTCT (p.Pro70=)
c.-98-20988_-98-20984delinsCTTCT (n.-98-20988_-98-20984delinsCTTCT)
n.4872_4876delinsCTTCT
n.4913_4917delinsCTTCT
17g.43071176_43071206dupCA2573154037BRCA1c.4707_4737dup (p.Glu1580LeufsTer3)
c.4710_4740dup (p.Glu1581LeufsTer3)
c.4584_4614dup (p.Glu1539LeufsTer3)
c.4704_4734dup (p.Glu1579LeufsTer3)
c.4632_4662dup (p.Glu1555LeufsTer3)
c.1398_1428dup (p.Glu477LeufsTer3)
c.1260_1290dup (p.Glu431LeufsTer3)
c.3822_3852dup (p.Glu1285LeufsTer3)
c.4587_4617dup (p.Glu1540LeufsTer3)
c.4776_4806dup (p.Glu1603LeufsTer3)
c.4569_4599dup (p.Glu1534LeufsTer3)
c.1272_1302dup (p.Glu435LeufsTer3)
c.1317_1347dup (p.Glu450LeufsTer3)
c.4773_4803dup (p.Glu1602LeufsTer3)
c.1097_1127dup
c.1284_1314dup (p.Glu439LeufsTer3)
c.*4493_*4523dup (n.*4493_*4523dup)
c.1023_1053dup (p.Glu352LeufsTer3)
c.5-7253_5-7223dup (n.5-7253_5-7223dup)
c.183_213dup (p.Glu72LeufsTer3)
c.-98-21014_-98-20984dup (n.-98-21014_-98-20984dup)
n.4846_4876dup
n.4887_4917dup
 ClinVar dbSNP
17g.43071175G>ACA002999BRCA1c.4736C>T (p.Ser1579Phe)
c.4739C>T (p.Ser1580Phe)
c.4613C>T (p.Ser1538Phe)
c.4733C>T (p.Ser1578Phe)
c.4661C>T (p.Ser1554Phe)
c.1427C>T (p.Ser476Phe)
c.1289C>T (p.Ser430Phe)
c.3851C>T (p.Ser1284Phe)
c.4616C>T (p.Ser1539Phe)
c.4805C>T (p.Ser1602Phe)
c.4598C>T (p.Ser1533Phe)
c.1301C>T (p.Ser434Phe)
c.1346C>T (p.Ser449Phe)
c.4802C>T (p.Ser1601Phe)
c.1126C>T
c.1313C>T (p.Ser438Phe)
c.*4522C>T (n.*4522C>T)
c.1052C>T (p.Ser351Phe)
c.5-7224C>T (n.5-7224C>T)
c.212C>T (p.Ser71Phe)
c.-98-20985C>T (n.-98-20985C>T)
n.4875C>T
n.4916C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43071175G>CCA10592030BRCA1c.4736C>G (p.Ser1579Cys)
c.4739C>G (p.Ser1580Cys)
c.4613C>G (p.Ser1538Cys)
c.4733C>G (p.Ser1578Cys)
c.4661C>G (p.Ser1554Cys)
c.1427C>G (p.Ser476Cys)
c.1289C>G (p.Ser430Cys)
c.3851C>G (p.Ser1284Cys)
c.4616C>G (p.Ser1539Cys)
c.4805C>G (p.Ser1602Cys)
c.4598C>G (p.Ser1533Cys)
c.1301C>G (p.Ser434Cys)
c.1346C>G (p.Ser449Cys)
c.4802C>G (p.Ser1601Cys)
c.1126C>G
c.1313C>G (p.Ser438Cys)
c.*4522C>G (n.*4522C>G)
c.1052C>G (p.Ser351Cys)
c.5-7224C>G (n.5-7224C>G)
c.212C>G (p.Ser71Cys)
c.-98-20985C>G (n.-98-20985C>G)
n.4875C>G
n.4916C>G
 dbSNP
17g.43071175G=CA2260772987BRCA1c.4736C= (p.Ser1579=)
c.4739C= (p.Ser1580=)
c.4613C= (p.Ser1538=)
c.4733C= (p.Ser1578=)
c.4661C= (p.Ser1554=)
c.1427C= (p.Ser476=)
c.1289C= (p.Ser430=)
c.3851C= (p.Ser1284=)
c.4616C= (p.Ser1539=)
c.4805C= (p.Ser1602=)
c.4598C= (p.Ser1533=)
c.1301C= (p.Ser434=)
c.1346C= (p.Ser449=)
c.4802C= (p.Ser1601=)
c.1126C=
c.1313C= (p.Ser438=)
c.*4522C= (n.*4522C=)
c.1052C= (p.Ser351=)
c.5-7224C= (n.5-7224C=)
c.212C= (p.Ser71=)
c.-98-20985C= (n.-98-20985C=)
n.4875C=
n.4916C=
17g.43071175G>TCA10592031BRCA1c.4736C>A (p.Ser1579Tyr)
c.4739C>A (p.Ser1580Tyr)
c.4613C>A (p.Ser1538Tyr)
c.4733C>A (p.Ser1578Tyr)
c.4661C>A (p.Ser1554Tyr)
c.1427C>A (p.Ser476Tyr)
c.1289C>A (p.Ser430Tyr)
c.3851C>A (p.Ser1284Tyr)
c.4616C>A (p.Ser1539Tyr)
c.4805C>A (p.Ser1602Tyr)
c.4598C>A (p.Ser1533Tyr)
c.1301C>A (p.Ser434Tyr)
c.1346C>A (p.Ser449Tyr)
c.4802C>A (p.Ser1601Tyr)
c.1126C>A
c.1313C>A (p.Ser438Tyr)
c.*4522C>A (n.*4522C>A)
c.1052C>A (p.Ser351Tyr)
c.5-7224C>A (n.5-7224C>A)
c.212C>A (p.Ser71Tyr)
c.-98-20985C>A (n.-98-20985C>A)
n.4875C>A
n.4916C>A
 ClinVar dbSNP gnomAD v4
17g.43071177_43071180delCA658684116BRCA1c.4733_4736del (p.Pro1578LeufsTer21)
c.4736_4739del (p.Pro1579LeufsTer21)
c.4610_4613del (p.Pro1537LeufsTer21)
c.4730_4733del (p.Pro1577LeufsTer21)
c.4658_4661del (p.Pro1553LeufsTer21)
c.1424_1427del (p.Pro475LeufsTer21)
c.1286_1289del (p.Pro429LeufsTer21)
c.3848_3851del (p.Pro1283LeufsTer21)
c.4613_4616del (p.Pro1538LeufsTer21)
c.4802_4805del (p.Pro1601LeufsTer21)
c.4595_4598del (p.Pro1532LeufsTer21)
c.1298_1301del (p.Pro433LeufsTer21)
c.1343_1346del (p.Pro448LeufsTer21)
c.4799_4802del (p.Pro1600LeufsTer21)
c.1123_1126del
c.1310_1313del (p.Pro437LeufsTer21)
c.*4519_*4522del (n.*4519_*4522del)
c.1049_1052del (p.Pro350LeufsTer21)
c.5-7227_5-7224del (n.5-7227_5-7224del)
c.209_212del (p.Pro70LeufsTer21)
c.-98-20988_-98-20985del (n.-98-20988_-98-20985del)
n.4872_4875del
n.4913_4916del
 ClinVar dbSNP
17g.43071176A>CCA10592032BRCA1c.4735T>G (p.Ser1579Ala)
c.4738T>G (p.Ser1580Ala)
c.4612T>G (p.Ser1538Ala)
c.4732T>G (p.Ser1578Ala)
c.4660T>G (p.Ser1554Ala)
c.1426T>G (p.Ser476Ala)
c.1288T>G (p.Ser430Ala)
c.3850T>G (p.Ser1284Ala)
c.4615T>G (p.Ser1539Ala)
c.4804T>G (p.Ser1602Ala)
c.4597T>G (p.Ser1533Ala)
c.1300T>G (p.Ser434Ala)
c.1345T>G (p.Ser449Ala)
c.4801T>G (p.Ser1601Ala)
c.1125T>G
c.1312T>G (p.Ser438Ala)
c.*4521T>G (n.*4521T>G)
c.1051T>G (p.Ser351Ala)
c.5-7225T>G (n.5-7225T>G)
c.211T>G (p.Ser71Ala)
c.-98-20986T>G (n.-98-20986T>G)
n.4874T>G
n.4915T>G
17g.43071176A>GCA10592033BRCA1c.4735T>C (p.Ser1579Pro)
c.4738T>C (p.Ser1580Pro)
c.4612T>C (p.Ser1538Pro)
c.4732T>C (p.Ser1578Pro)
c.4660T>C (p.Ser1554Pro)
c.1426T>C (p.Ser476Pro)
c.1288T>C (p.Ser430Pro)
c.3850T>C (p.Ser1284Pro)
c.4615T>C (p.Ser1539Pro)
c.4804T>C (p.Ser1602Pro)
c.4597T>C (p.Ser1533Pro)
c.1300T>C (p.Ser434Pro)
c.1345T>C (p.Ser449Pro)
c.4801T>C (p.Ser1601Pro)
c.1125T>C
c.1312T>C (p.Ser438Pro)
c.*4521T>C (n.*4521T>C)
c.1051T>C (p.Ser351Pro)
c.5-7225T>C (n.5-7225T>C)
c.211T>C (p.Ser71Pro)
c.-98-20986T>C (n.-98-20986T>C)
n.4874T>C
n.4915T>C
 dbSNP gnomAD v4
17g.43071176A>TCA10592034BRCA1c.4735T>A (p.Ser1579Thr)
c.4738T>A (p.Ser1580Thr)
c.4612T>A (p.Ser1538Thr)
c.4732T>A (p.Ser1578Thr)
c.4660T>A (p.Ser1554Thr)
c.1426T>A (p.Ser476Thr)
c.1288T>A (p.Ser430Thr)
c.3850T>A (p.Ser1284Thr)
c.4615T>A (p.Ser1539Thr)
c.4804T>A (p.Ser1602Thr)
c.4597T>A (p.Ser1533Thr)
c.1300T>A (p.Ser434Thr)
c.1345T>A (p.Ser449Thr)
c.4801T>A (p.Ser1601Thr)
c.1125T>A
c.1312T>A (p.Ser438Thr)
c.*4521T>A (n.*4521T>A)
c.1051T>A (p.Ser351Thr)
c.5-7225T>A (n.5-7225T>A)
c.211T>A (p.Ser71Thr)
c.-98-20986T>A (n.-98-20986T>A)
n.4874T>A
n.4915T>A
17g.43071177A=CA2260772988BRCA1c.4734T= (p.Pro1578=)
c.4737T= (p.Pro1579=)
c.4611T= (p.Pro1537=)
c.4731T= (p.Pro1577=)
c.4659T= (p.Pro1553=)
c.1425T= (p.Pro475=)
c.1287T= (p.Pro429=)
c.3849T= (p.Pro1283=)
c.4614T= (p.Pro1538=)
c.4803T= (p.Pro1601=)
c.4596T= (p.Pro1532=)
c.1299T= (p.Pro433=)
c.1344T= (p.Pro448=)
c.4800T= (p.Pro1600=)
c.1124T=
c.1311T= (p.Pro437=)
c.*4520T= (n.*4520T=)
c.1050T= (p.Pro350=)
c.5-7226T= (n.5-7226T=)
c.210T= (p.Pro70=)
c.-98-20987T= (n.-98-20987T=)
n.4873T=
n.4914T=
17g.43071177A>CCA500231872BRCA1c.4734T>G (p.Pro1578=)
c.4737T>G (p.Pro1579=)
c.4611T>G (p.Pro1537=)
c.4731T>G (p.Pro1577=)
c.4659T>G (p.Pro1553=)
c.1425T>G (p.Pro475=)
c.1287T>G (p.Pro429=)
c.3849T>G (p.Pro1283=)
c.4614T>G (p.Pro1538=)
c.4803T>G (p.Pro1601=)
c.4596T>G (p.Pro1532=)
c.1299T>G (p.Pro433=)
c.1344T>G (p.Pro448=)
c.4800T>G (p.Pro1600=)
c.1124T>G
c.1311T>G (p.Pro437=)
c.*4520T>G (n.*4520T>G)
c.1050T>G (p.Pro350=)
c.5-7226T>G (n.5-7226T>G)
c.210T>G (p.Pro70=)
c.-98-20987T>G (n.-98-20987T>G)
n.4873T>G
n.4914T>G
17g.43071177A>GCA10583557BRCA1c.4734T>C (p.Pro1578=)
c.4737T>C (p.Pro1579=)
c.4611T>C (p.Pro1537=)
c.4731T>C (p.Pro1577=)
c.4659T>C (p.Pro1553=)
c.1425T>C (p.Pro475=)
c.1287T>C (p.Pro429=)
c.3849T>C (p.Pro1283=)
c.4614T>C (p.Pro1538=)
c.4803T>C (p.Pro1601=)
c.4596T>C (p.Pro1532=)
c.1299T>C (p.Pro433=)
c.1344T>C (p.Pro448=)
c.4800T>C (p.Pro1600=)
c.1124T>C
c.1311T>C (p.Pro437=)
c.*4520T>C (n.*4520T>C)
c.1050T>C (p.Pro350=)
c.5-7226T>C (n.5-7226T>C)
c.210T>C (p.Pro70=)
c.-98-20987T>C (n.-98-20987T>C)
n.4873T>C
n.4914T>C
 ClinVar dbSNP
17g.43071177A>TCA500231871BRCA1c.4734T>A (p.Pro1578=)
c.4737T>A (p.Pro1579=)
c.4611T>A (p.Pro1537=)
c.4731T>A (p.Pro1577=)
c.4659T>A (p.Pro1553=)
c.1425T>A (p.Pro475=)
c.1287T>A (p.Pro429=)
c.3849T>A (p.Pro1283=)
c.4614T>A (p.Pro1538=)
c.4803T>A (p.Pro1601=)
c.4596T>A (p.Pro1532=)
c.1299T>A (p.Pro433=)
c.1344T>A (p.Pro448=)
c.4800T>A (p.Pro1600=)
c.1124T>A
c.1311T>A (p.Pro437=)
c.*4520T>A (n.*4520T>A)
c.1050T>A (p.Pro350=)
c.5-7226T>A (n.5-7226T>A)
c.210T>A (p.Pro70=)
c.-98-20987T>A (n.-98-20987T>A)
n.4873T>A
n.4914T>A
 dbSNP
17g.43071178G>ACA10592035BRCA1c.4733C>T (p.Pro1578Leu)
c.4736C>T (p.Pro1579Leu)
c.4610C>T (p.Pro1537Leu)
c.4730C>T (p.Pro1577Leu)
c.4658C>T (p.Pro1553Leu)
c.1424C>T (p.Pro475Leu)
c.1286C>T (p.Pro429Leu)
c.3848C>T (p.Pro1283Leu)
c.4613C>T (p.Pro1538Leu)
c.4802C>T (p.Pro1601Leu)
c.4595C>T (p.Pro1532Leu)
c.1298C>T (p.Pro433Leu)
c.1343C>T (p.Pro448Leu)
c.4799C>T (p.Pro1600Leu)
c.1123C>T
c.1310C>T (p.Pro437Leu)
c.*4519C>T (n.*4519C>T)
c.1049C>T (p.Pro350Leu)
c.5-7227C>T (n.5-7227C>T)
c.209C>T (p.Pro70Leu)
c.-98-20988C>T (n.-98-20988C>T)
n.4872C>T
n.4913C>T
 ClinVar dbSNP
17g.43071178G>CCA10592036BRCA1c.4733C>G (p.Pro1578Arg)
c.4736C>G (p.Pro1579Arg)
c.4610C>G (p.Pro1537Arg)
c.4730C>G (p.Pro1577Arg)
c.4658C>G (p.Pro1553Arg)
c.1424C>G (p.Pro475Arg)
c.1286C>G (p.Pro429Arg)
c.3848C>G (p.Pro1283Arg)
c.4613C>G (p.Pro1538Arg)
c.4802C>G (p.Pro1601Arg)
c.4595C>G (p.Pro1532Arg)
c.1298C>G (p.Pro433Arg)
c.1343C>G (p.Pro448Arg)
c.4799C>G (p.Pro1600Arg)
c.1123C>G
c.1310C>G (p.Pro437Arg)
c.*4519C>G (n.*4519C>G)
c.1049C>G (p.Pro350Arg)
c.5-7227C>G (n.5-7227C>G)
c.209C>G (p.Pro70Arg)
c.-98-20988C>G (n.-98-20988C>G)
n.4872C>G
n.4913C>G
 dbSNP
17g.43071178G=CA2260772989BRCA1c.4733C= (p.Pro1578=)
c.4736C= (p.Pro1579=)
c.4610C= (p.Pro1537=)
c.4730C= (p.Pro1577=)
c.4658C= (p.Pro1553=)
c.1424C= (p.Pro475=)
c.1286C= (p.Pro429=)
c.3848C= (p.Pro1283=)
c.4613C= (p.Pro1538=)
c.4802C= (p.Pro1601=)
c.4595C= (p.Pro1532=)
c.1298C= (p.Pro433=)
c.1343C= (p.Pro448=)
c.4799C= (p.Pro1600=)
c.1123C=
c.1310C= (p.Pro437=)
c.*4519C= (n.*4519C=)
c.1049C= (p.Pro350=)
c.5-7227C= (n.5-7227C=)
c.209C= (p.Pro70=)
c.-98-20988C= (n.-98-20988C=)
n.4872C=
n.4913C=
17g.43071178G>TCA10592037BRCA1c.4733C>A (p.Pro1578His)
c.4736C>A (p.Pro1579His)
c.4610C>A (p.Pro1537His)
c.4730C>A (p.Pro1577His)
c.4658C>A (p.Pro1553His)
c.1424C>A (p.Pro475His)
c.1286C>A (p.Pro429His)
c.3848C>A (p.Pro1283His)
c.4613C>A (p.Pro1538His)
c.4802C>A (p.Pro1601His)
c.4595C>A (p.Pro1532His)
c.1298C>A (p.Pro433His)
c.1343C>A (p.Pro448His)
c.4799C>A (p.Pro1600His)
c.1123C>A
c.1310C>A (p.Pro437His)
c.*4519C>A (n.*4519C>A)
c.1049C>A (p.Pro350His)
c.5-7227C>A (n.5-7227C>A)
c.209C>A (p.Pro70His)
c.-98-20988C>A (n.-98-20988C>A)
n.4872C>A
n.4913C>A
 dbSNP
17g.43071179G>ACA052875BRCA1c.4732C>T (p.Pro1578Ser)
c.4735C>T (p.Pro1579Ser)
c.4609C>T (p.Pro1537Ser)
c.4729C>T (p.Pro1577Ser)
c.4657C>T (p.Pro1553Ser)
c.1423C>T (p.Pro475Ser)
c.1285C>T (p.Pro429Ser)
c.3847C>T (p.Pro1283Ser)
c.4612C>T (p.Pro1538Ser)
c.4801C>T (p.Pro1601Ser)
c.4594C>T (p.Pro1532Ser)
c.1297C>T (p.Pro433Ser)
c.1342C>T (p.Pro448Ser)
c.4798C>T (p.Pro1600Ser)
c.1122C>T
c.1309C>T (p.Pro437Ser)
c.*4518C>T (n.*4518C>T)
c.1048C>T (p.Pro350Ser)
c.5-7228C>T (n.5-7228C>T)
c.208C>T (p.Pro70Ser)
c.-98-20989C>T (n.-98-20989C>T)
n.4871C>T
n.4912C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43071179G>CCA002998BRCA1c.4732C>G (p.Pro1578Ala)
c.4735C>G (p.Pro1579Ala)
c.4609C>G (p.Pro1537Ala)
c.4729C>G (p.Pro1577Ala)
c.4657C>G (p.Pro1553Ala)
c.1423C>G (p.Pro475Ala)
c.1285C>G (p.Pro429Ala)
c.3847C>G (p.Pro1283Ala)
c.4612C>G (p.Pro1538Ala)
c.4801C>G (p.Pro1601Ala)
c.4594C>G (p.Pro1532Ala)
c.1297C>G (p.Pro433Ala)
c.1342C>G (p.Pro448Ala)
c.4798C>G (p.Pro1600Ala)
c.1122C>G
c.1309C>G (p.Pro437Ala)
c.*4518C>G (n.*4518C>G)
c.1048C>G (p.Pro350Ala)
c.5-7228C>G (n.5-7228C>G)
c.208C>G (p.Pro70Ala)
c.-98-20989C>G (n.-98-20989C>G)
n.4871C>G
n.4912C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43071179G=CA2260772990BRCA1c.4732C= (p.Pro1578=)
c.4735C= (p.Pro1579=)
c.4609C= (p.Pro1537=)
c.4729C= (p.Pro1577=)
c.4657C= (p.Pro1553=)
c.1423C= (p.Pro475=)
c.1285C= (p.Pro429=)
c.3847C= (p.Pro1283=)
c.4612C= (p.Pro1538=)
c.4801C= (p.Pro1601=)
c.4594C= (p.Pro1532=)
c.1297C= (p.Pro433=)
c.1342C= (p.Pro448=)
c.4798C= (p.Pro1600=)
c.1122C=
c.1309C= (p.Pro437=)
c.*4518C= (n.*4518C=)
c.1048C= (p.Pro350=)
c.5-7228C= (n.5-7228C=)
c.208C= (p.Pro70=)
c.-98-20989C= (n.-98-20989C=)
n.4871C=
n.4912C=
17g.43071179G>TCA10592038BRCA1c.4732C>A (p.Pro1578Thr)
c.4735C>A (p.Pro1579Thr)
c.4609C>A (p.Pro1537Thr)
c.4729C>A (p.Pro1577Thr)
c.4657C>A (p.Pro1553Thr)
c.1423C>A (p.Pro475Thr)
c.1285C>A (p.Pro429Thr)
c.3847C>A (p.Pro1283Thr)
c.4612C>A (p.Pro1538Thr)
c.4801C>A (p.Pro1601Thr)
c.4594C>A (p.Pro1532Thr)
c.1297C>A (p.Pro433Thr)
c.1342C>A (p.Pro448Thr)
c.4798C>A (p.Pro1600Thr)
c.1122C>A
c.1309C>A (p.Pro437Thr)
c.*4518C>A (n.*4518C>A)
c.1048C>A (p.Pro350Thr)
c.5-7228C>A (n.5-7228C>A)
c.208C>A (p.Pro70Thr)
c.-98-20989C>A (n.-98-20989C>A)
n.4871C>A
n.4912C>A
 dbSNP
17g.43071180A>CCA10592039BRCA1c.4731T>G (p.Asp1577Glu)
c.4734T>G (p.Asp1578Glu)
c.4608T>G (p.Asp1536Glu)
c.4728T>G (p.Asp1576Glu)
c.4656T>G (p.Asp1552Glu)
c.1422T>G (p.Asp474Glu)
c.1284T>G (p.Asp428Glu)
c.3846T>G (p.Asp1282Glu)
c.4611T>G (p.Asp1537Glu)
c.4800T>G (p.Asp1600Glu)
c.4593T>G (p.Asp1531Glu)
c.1296T>G (p.Asp432Glu)
c.1341T>G (p.Asp447Glu)
c.4797T>G (p.Asp1599Glu)
c.1121T>G
c.1308T>G (p.Asp436Glu)
c.*4517T>G (n.*4517T>G)
c.1047T>G (p.Asp349Glu)
c.5-7229T>G (n.5-7229T>G)
c.207T>G (p.Asp69Glu)
c.-98-20990T>G (n.-98-20990T>G)
n.4870T>G
n.4911T>G
 dbSNP
17g.43071180A>GCA500231873BRCA1c.4731T>C (p.Asp1577=)
c.4734T>C (p.Asp1578=)
c.4608T>C (p.Asp1536=)
c.4728T>C (p.Asp1576=)
c.4656T>C (p.Asp1552=)
c.1422T>C (p.Asp474=)
c.1284T>C (p.Asp428=)
c.3846T>C (p.Asp1282=)
c.4611T>C (p.Asp1537=)
c.4800T>C (p.Asp1600=)
c.4593T>C (p.Asp1531=)
c.1296T>C (p.Asp432=)
c.1341T>C (p.Asp447=)
c.4797T>C (p.Asp1599=)
c.1121T>C
c.1308T>C (p.Asp436=)
c.*4517T>C (n.*4517T>C)
c.1047T>C (p.Asp349=)
c.5-7229T>C (n.5-7229T>C)
c.207T>C (p.Asp69=)
c.-98-20990T>C (n.-98-20990T>C)
n.4870T>C
n.4911T>C
17g.43071180A>TCA10592040BRCA1c.4731T>A (p.Asp1577Glu)
c.4734T>A (p.Asp1578Glu)
c.4608T>A (p.Asp1536Glu)
c.4728T>A (p.Asp1576Glu)
c.4656T>A (p.Asp1552Glu)
c.1422T>A (p.Asp474Glu)
c.1284T>A (p.Asp428Glu)
c.3846T>A (p.Asp1282Glu)
c.4611T>A (p.Asp1537Glu)
c.4800T>A (p.Asp1600Glu)
c.4593T>A (p.Asp1531Glu)
c.1296T>A (p.Asp432Glu)
c.1341T>A (p.Asp447Glu)
c.4797T>A (p.Asp1599Glu)
c.1121T>A
c.1308T>A (p.Asp436Glu)
c.*4517T>A (n.*4517T>A)
c.1047T>A (p.Asp349Glu)
c.5-7229T>A (n.5-7229T>A)
c.207T>A (p.Asp69Glu)
c.-98-20990T>A (n.-98-20990T>A)
n.4870T>A
n.4911T>A
 dbSNP
17g.43071181T>ACA10592041BRCA1c.4730A>T (p.Asp1577Val)
c.4733A>T (p.Asp1578Val)
c.4607A>T (p.Asp1536Val)
c.4727A>T (p.Asp1576Val)
c.4655A>T (p.Asp1552Val)
c.1421A>T (p.Asp474Val)
c.1283A>T (p.Asp428Val)
c.3845A>T (p.Asp1282Val)
c.4610A>T (p.Asp1537Val)
c.4799A>T (p.Asp1600Val)
c.4592A>T (p.Asp1531Val)
c.1295A>T (p.Asp432Val)
c.1340A>T (p.Asp447Val)
c.4796A>T (p.Asp1599Val)
c.1120A>T
c.1307A>T (p.Asp436Val)
c.*4516A>T (n.*4516A>T)
c.1046A>T (p.Asp349Val)
c.5-7230A>T (n.5-7230A>T)
c.206A>T (p.Asp69Val)
c.-98-20991A>T (n.-98-20991A>T)
n.4869A>T
n.4910A>T
 dbSNP
17g.43071181T>CCA002997BRCA1c.4730A>G (p.Asp1577Gly)
c.4733A>G (p.Asp1578Gly)
c.4607A>G (p.Asp1536Gly)
c.4727A>G (p.Asp1576Gly)
c.4655A>G (p.Asp1552Gly)
c.1421A>G (p.Asp474Gly)
c.1283A>G (p.Asp428Gly)
c.3845A>G (p.Asp1282Gly)
c.4610A>G (p.Asp1537Gly)
c.4799A>G (p.Asp1600Gly)
c.4592A>G (p.Asp1531Gly)
c.1295A>G (p.Asp432Gly)
c.1340A>G (p.Asp447Gly)
c.4796A>G (p.Asp1599Gly)
c.1120A>G
c.1307A>G (p.Asp436Gly)
c.*4516A>G (n.*4516A>G)
c.1046A>G (p.Asp349Gly)
c.5-7230A>G (n.5-7230A>G)
c.206A>G (p.Asp69Gly)
c.-98-20991A>G (n.-98-20991A>G)
n.4869A>G
n.4910A>G
 ClinVar dbSNP gnomAD v4
17g.43071181T>GCA10592042BRCA1c.4730A>C (p.Asp1577Ala)
c.4733A>C (p.Asp1578Ala)
c.4607A>C (p.Asp1536Ala)
c.4727A>C (p.Asp1576Ala)
c.4655A>C (p.Asp1552Ala)
c.1421A>C (p.Asp474Ala)
c.1283A>C (p.Asp428Ala)
c.3845A>C (p.Asp1282Ala)
c.4610A>C (p.Asp1537Ala)
c.4799A>C (p.Asp1600Ala)
c.4592A>C (p.Asp1531Ala)
c.1295A>C (p.Asp432Ala)
c.1340A>C (p.Asp447Ala)
c.4796A>C (p.Asp1599Ala)
c.1120A>C
c.1307A>C (p.Asp436Ala)
c.*4516A>C (n.*4516A>C)
c.1046A>C (p.Asp349Ala)
c.5-7230A>C (n.5-7230A>C)
c.206A>C (p.Asp69Ala)
c.-98-20991A>C (n.-98-20991A>C)
n.4869A>C
n.4910A>C
 dbSNP
17g.43071181T=CA2260772991BRCA1c.4730A= (p.Asp1577=)
c.4733A= (p.Asp1578=)
c.4607A= (p.Asp1536=)
c.4727A= (p.Asp1576=)
c.4655A= (p.Asp1552=)
c.1421A= (p.Asp474=)
c.1283A= (p.Asp428=)
c.3845A= (p.Asp1282=)
c.4610A= (p.Asp1537=)
c.4799A= (p.Asp1600=)
c.4592A= (p.Asp1531=)
c.1295A= (p.Asp432=)
c.1340A= (p.Asp447=)
c.4796A= (p.Asp1599=)
c.1120A=
c.1307A= (p.Asp436=)
c.*4516A= (n.*4516A=)
c.1046A= (p.Asp349=)
c.5-7230A= (n.5-7230A=)
c.206A= (p.Asp69=)
c.-98-20991A= (n.-98-20991A=)
n.4869A=
n.4910A=

Number of alleles fetched