Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.43063955_43071241delCA10575957BRCA1c.4674_5072del
c.4677_5075del
c.4551_4949del
c.4671_5069del
c.4599_4997del
c.1365_1763del
c.1227_1625del
c.3789_4187del
c.4554_4952del
c.4743_5141del
c.4536_4934del
c.1239_1637del
c.4740_5138del
c.1064_1462del
c.1251_1649del
c.*4460_*4858del
c.990_1388del
c.5-7286_5del
c.150_548del
c.-98-21047_-98-13761del (n.-98-21047_-98-13761del)
n.4813_5211del
n.4854_5252del
17g.43066661_43072815delCA913190336BRCA1c.4672+1532_5071+963del
c.4675+1532_5074+963del
c.4549+1532_4948+963del
c.4669+1532_5068+963del
c.4597+1532_4996+963del
c.1363+1532_1762+963del
c.1225+1532_1624+963del
c.3787+1532_4186+963del
c.4552+1532_4951+963del
c.4741+1532_5140+963del
c.4534+1532_4933+963del
c.1237+1532_1636+963del
c.4738+1532_5137+963del
c.1062+1532_1461+963del
c.1249+1532_1648+963del
c.*4458+1532_*4857+963del
c.988+1532_1387+963del
c.5-8848_5-2694del (n.5-8848_5-2694del)
c.148+1532_547+963del
c.-98-22609_-98-16455del (n.-98-22609_-98-16455del)
n.4811+1532_5210+963del
n.4852+1532_5251+963del
 ClinVar
17g.43067611_43071241delCA2581463406BRCA1c.4673_5071del
c.4676_5074del
c.4550_4948del
c.4670_5068del
c.4598_4996del
c.1364_1762del
c.1226_1624del
c.3788_4186del
c.4553_4951del
c.4742_5140del
c.4535_4933del
c.1238_1636del
c.4739_5137del
c.1063_1461del
c.1250_1648del
c.*4459_*4857del
c.989_1387del
c.5-7287_5-3657del (n.5-7287_5-3657del)
c.149_547del
c.-98-21048_-98-17418del (n.-98-21048_-98-17418del)
n.4812_5210del
n.4853_5251del
17g.43070037_43072667delCA10602585BRCA1c.4673-1420_4983+900del
c.4676-1420_4986+900del
c.4550-1420_4860+900del
c.4670-1420_4980+900del
c.4598-1420_4908+900del
c.1364-1420_1674+900del
c.1226-1420_1536+900del
c.3788-1420_4098+900del
c.4553-1420_4863+900del
c.4742-1420_5052+900del
c.4535-1420_4845+900del
c.1238-1420_1548+900del
c.4739-1420_5049+900del
c.1063-1420_1373+900del
c.1250-1420_1560+900del
c.*4459-1420_*4769+900del
c.989-1420_1299+900del
c.5-8707_5-6077del (n.5-8707_5-6077del)
c.149-1420_459+900del
c.-98-22468_-98-19838del (n.-98-22468_-98-19838del)
n.4812-1420_5122+900del
n.4853-1420_5163+900del
 ClinVar
17g.43070145_43072775delCA2697559917BRCA1c.4673-1528_4983+792del
c.4676-1528_4986+792del
c.4550-1528_4860+792del
c.4670-1528_4980+792del
c.4598-1528_4908+792del
c.1364-1528_1674+792del
c.1226-1528_1536+792del
c.3788-1528_4098+792del
c.4553-1528_4863+792del
c.4742-1528_5052+792del
c.4535-1528_4845+792del
c.1238-1528_1548+792del
c.4739-1528_5049+792del
c.1063-1528_1373+792del
c.1250-1528_1560+792del
c.*4459-1528_*4769+792del
c.989-1528_1299+792del
c.5-8815_5-6185del (n.5-8815_5-6185del)
c.149-1528_459+792del
c.-98-22576_-98-19946del (n.-98-22576_-98-19946del)
n.4812-1528_5122+792del
n.4853-1528_5163+792del
 ClinVar
17g.43070208_43078359dupCA16043350BRCA1c.4358-1732_4983+736dup
c.4358-1729_4986+736dup
c.4232-1729_4860+736dup
c.4352-1729_4980+736dup
c.4280-1729_4908+736dup
c.1046-1729_1674+736dup
c.908-1729_1536+736dup
c.3470-1729_4098+736dup
c.4235-1729_4863+736dup
c.4423+991_5052+736dup
c.4217-1729_4845+736dup
c.923-1732_1548+736dup
c.4423+991_5049+736dup
c.744+991_1373+736dup
c.932-1729_1560+736dup
c.*4141-1729_*4769+736dup
c.1049-1732_1674+736dup
c.671-1729_1299+736dup
c.5-14392_5-6241dup (n.5-14392_5-6241dup)
c.-43-3822_459+736dup
c.-98-28153_-98-20002dup (n.-98-28153_-98-20002dup)
n.4494-1729_5122+736dup
n.4535-1729_5163+736dup
17g.43070192_43078360dupCA2580612611BRCA1c.4358-1749_4983+736dup
c.4358-1746_4986+736dup
c.4232-1746_4860+736dup
c.4352-1746_4980+736dup
c.4280-1746_4908+736dup
c.1046-1746_1674+736dup
c.908-1746_1536+736dup
c.3470-1746_4098+736dup
c.4235-1746_4863+736dup
c.4423+974_5052+736dup
c.4217-1746_4845+736dup
c.923-1749_1548+736dup
c.4423+974_5049+736dup
c.744+974_1373+736dup
c.932-1746_1560+736dup
c.*4141-1746_*4769+736dup
c.1049-1749_1674+736dup
c.671-1746_1299+736dup
c.5-14409_5-6241dup (n.5-14409_5-6241dup)
c.-43-3839_459+736dup
c.-98-28170_-98-20002dup (n.-98-28170_-98-20002dup)
n.4494-1746_5122+736dup
n.4535-1746_5163+736dup
17g.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.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.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
 ClinVar 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=
17g.43071182C>ACA10592043BRCA1c.4729G>T (p.Asp1577Tyr)
c.4732G>T (p.Asp1578Tyr)
c.4606G>T (p.Asp1536Tyr)
c.4726G>T (p.Asp1576Tyr)
c.4654G>T (p.Asp1552Tyr)
c.1420G>T (p.Asp474Tyr)
c.1282G>T (p.Asp428Tyr)
c.3844G>T (p.Asp1282Tyr)
c.4609G>T (p.Asp1537Tyr)
c.4798G>T (p.Asp1600Tyr)
c.4591G>T (p.Asp1531Tyr)
c.1294G>T (p.Asp432Tyr)
c.1339G>T (p.Asp447Tyr)
c.4795G>T (p.Asp1599Tyr)
c.1119G>T
c.1306G>T (p.Asp436Tyr)
c.*4515G>T (n.*4515G>T)
c.1045G>T (p.Asp349Tyr)
c.5-7231G>T (n.5-7231G>T)
c.205G>T (p.Asp69Tyr)
c.-98-20992G>T (n.-98-20992G>T)
n.4868G>T
n.4909G>T
 dbSNP
17g.43071182C>GCA10592044BRCA1c.4729G>C (p.Asp1577His)
c.4732G>C (p.Asp1578His)
c.4606G>C (p.Asp1536His)
c.4726G>C (p.Asp1576His)
c.4654G>C (p.Asp1552His)
c.1420G>C (p.Asp474His)
c.1282G>C (p.Asp428His)
c.3844G>C (p.Asp1282His)
c.4609G>C (p.Asp1537His)
c.4798G>C (p.Asp1600His)
c.4591G>C (p.Asp1531His)
c.1294G>C (p.Asp432His)
c.1339G>C (p.Asp447His)
c.4795G>C (p.Asp1599His)
c.1119G>C
c.1306G>C (p.Asp436His)
c.*4515G>C (n.*4515G>C)
c.1045G>C (p.Asp349His)
c.5-7231G>C (n.5-7231G>C)
c.205G>C (p.Asp69His)
c.-98-20992G>C (n.-98-20992G>C)
n.4868G>C
n.4909G>C
 dbSNP
17g.43071182C>TCA10592045BRCA1c.4729G>A (p.Asp1577Asn)
c.4732G>A (p.Asp1578Asn)
c.4606G>A (p.Asp1536Asn)
c.4726G>A (p.Asp1576Asn)
c.4654G>A (p.Asp1552Asn)
c.1420G>A (p.Asp474Asn)
c.1282G>A (p.Asp428Asn)
c.3844G>A (p.Asp1282Asn)
c.4609G>A (p.Asp1537Asn)
c.4798G>A (p.Asp1600Asn)
c.4591G>A (p.Asp1531Asn)
c.1294G>A (p.Asp432Asn)
c.1339G>A (p.Asp447Asn)
c.4795G>A (p.Asp1599Asn)
c.1119G>A
c.1306G>A (p.Asp436Asn)
c.*4515G>A (n.*4515G>A)
c.1045G>A (p.Asp349Asn)
c.5-7231G>A (n.5-7231G>A)
c.205G>A (p.Asp69Asn)
c.-98-20992G>A (n.-98-20992G>A)
n.4868G>A
n.4909G>A
 dbSNP
17g.43071183A=CA2260772992BRCA1c.4728T= (p.Ser1576=)
c.4731T= (p.Ser1577=)
c.4605T= (p.Ser1535=)
c.4725T= (p.Ser1575=)
c.4653T= (p.Ser1551=)
c.1419T= (p.Ser473=)
c.1281T= (p.Ser427=)
c.3843T= (p.Ser1281=)
c.4608T= (p.Ser1536=)
c.4797T= (p.Ser1599=)
c.4590T= (p.Ser1530=)
c.1293T= (p.Ser431=)
c.1338T= (p.Ser446=)
c.4794T= (p.Ser1598=)
c.1118T=
c.1305T= (p.Ser435=)
c.*4514T= (n.*4514T=)
c.1044T= (p.Ser348=)
c.5-7232T= (n.5-7232T=)
c.204T= (p.Ser68=)
c.-98-20993T= (n.-98-20993T=)
n.4867T=
n.4908T=
17g.43071183A>CCA500231874BRCA1c.4728T>G (p.Ser1576=)
c.4731T>G (p.Ser1577=)
c.4605T>G (p.Ser1535=)
c.4725T>G (p.Ser1575=)
c.4653T>G (p.Ser1551=)
c.1419T>G (p.Ser473=)
c.1281T>G (p.Ser427=)
c.3843T>G (p.Ser1281=)
c.4608T>G (p.Ser1536=)
c.4797T>G (p.Ser1599=)
c.4590T>G (p.Ser1530=)
c.1293T>G (p.Ser431=)
c.1338T>G (p.Ser446=)
c.4794T>G (p.Ser1598=)
c.1118T>G
c.1305T>G (p.Ser435=)
c.*4514T>G (n.*4514T>G)
c.1044T>G (p.Ser348=)
c.5-7232T>G (n.5-7232T>G)
c.204T>G (p.Ser68=)
c.-98-20993T>G (n.-98-20993T>G)
n.4867T>G
n.4908T>G
17g.43071183A>GCA500231875BRCA1c.4728T>C (p.Ser1576=)
c.4731T>C (p.Ser1577=)
c.4605T>C (p.Ser1535=)
c.4725T>C (p.Ser1575=)
c.4653T>C (p.Ser1551=)
c.1419T>C (p.Ser473=)
c.1281T>C (p.Ser427=)
c.3843T>C (p.Ser1281=)
c.4608T>C (p.Ser1536=)
c.4797T>C (p.Ser1599=)
c.4590T>C (p.Ser1530=)
c.1293T>C (p.Ser431=)
c.1338T>C (p.Ser446=)
c.4794T>C (p.Ser1598=)
c.1118T>C
c.1305T>C (p.Ser435=)
c.*4514T>C (n.*4514T>C)
c.1044T>C (p.Ser348=)
c.5-7232T>C (n.5-7232T>C)
c.204T>C (p.Ser68=)
c.-98-20993T>C (n.-98-20993T>C)
n.4867T>C
n.4908T>C
 ClinVar dbSNP
17g.43071183A>TCA500231876BRCA1c.4728T>A (p.Ser1576=)
c.4731T>A (p.Ser1577=)
c.4605T>A (p.Ser1535=)
c.4725T>A (p.Ser1575=)
c.4653T>A (p.Ser1551=)
c.1419T>A (p.Ser473=)
c.1281T>A (p.Ser427=)
c.3843T>A (p.Ser1281=)
c.4608T>A (p.Ser1536=)
c.4797T>A (p.Ser1599=)
c.4590T>A (p.Ser1530=)
c.1293T>A (p.Ser431=)
c.1338T>A (p.Ser446=)
c.4794T>A (p.Ser1598=)
c.1118T>A
c.1305T>A (p.Ser435=)
c.*4514T>A (n.*4514T>A)
c.1044T>A (p.Ser348=)
c.5-7232T>A (n.5-7232T>A)
c.204T>A (p.Ser68=)
c.-98-20993T>A (n.-98-20993T>A)
n.4867T>A
n.4908T>A
 ClinVar dbSNP
17g.43071184G>ACA10592046BRCA1c.4727C>T (p.Ser1576Phe)
c.4730C>T (p.Ser1577Phe)
c.4604C>T (p.Ser1535Phe)
c.4724C>T (p.Ser1575Phe)
c.4652C>T (p.Ser1551Phe)
c.1418C>T (p.Ser473Phe)
c.1280C>T (p.Ser427Phe)
c.3842C>T (p.Ser1281Phe)
c.4607C>T (p.Ser1536Phe)
c.4796C>T (p.Ser1599Phe)
c.4589C>T (p.Ser1530Phe)
c.1292C>T (p.Ser431Phe)
c.1337C>T (p.Ser446Phe)
c.4793C>T (p.Ser1598Phe)
c.1117C>T
c.1304C>T (p.Ser435Phe)
c.*4513C>T (n.*4513C>T)
c.1043C>T (p.Ser348Phe)
c.5-7233C>T (n.5-7233C>T)
c.203C>T (p.Ser68Phe)
c.-98-20994C>T (n.-98-20994C>T)
n.4866C>T
n.4907C>T
 ClinVar dbSNP gnomAD v4
17g.43071184G>CCA10592047BRCA1c.4727C>G (p.Ser1576Cys)
c.4730C>G (p.Ser1577Cys)
c.4604C>G (p.Ser1535Cys)
c.4724C>G (p.Ser1575Cys)
c.4652C>G (p.Ser1551Cys)
c.1418C>G (p.Ser473Cys)
c.1280C>G (p.Ser427Cys)
c.3842C>G (p.Ser1281Cys)
c.4607C>G (p.Ser1536Cys)
c.4796C>G (p.Ser1599Cys)
c.4589C>G (p.Ser1530Cys)
c.1292C>G (p.Ser431Cys)
c.1337C>G (p.Ser446Cys)
c.4793C>G (p.Ser1598Cys)
c.1117C>G
c.1304C>G (p.Ser435Cys)
c.*4513C>G (n.*4513C>G)
c.1043C>G (p.Ser348Cys)
c.5-7233C>G (n.5-7233C>G)
c.203C>G (p.Ser68Cys)
c.-98-20994C>G (n.-98-20994C>G)
n.4866C>G
n.4907C>G
 dbSNP
17g.43071184G=CA2260772993BRCA1c.4727C= (p.Ser1576=)
c.4730C= (p.Ser1577=)
c.4604C= (p.Ser1535=)
c.4724C= (p.Ser1575=)
c.4652C= (p.Ser1551=)
c.1418C= (p.Ser473=)
c.1280C= (p.Ser427=)
c.3842C= (p.Ser1281=)
c.4607C= (p.Ser1536=)
c.4796C= (p.Ser1599=)
c.4589C= (p.Ser1530=)
c.1292C= (p.Ser431=)
c.1337C= (p.Ser446=)
c.4793C= (p.Ser1598=)
c.1117C=
c.1304C= (p.Ser435=)
c.*4513C= (n.*4513C=)
c.1043C= (p.Ser348=)
c.5-7233C= (n.5-7233C=)
c.203C= (p.Ser68=)
c.-98-20994C= (n.-98-20994C=)
n.4866C=
n.4907C=
17g.43071184G>TCA002996BRCA1c.4727C>A (p.Ser1576Tyr)
c.4730C>A (p.Ser1577Tyr)
c.4604C>A (p.Ser1535Tyr)
c.4724C>A (p.Ser1575Tyr)
c.4652C>A (p.Ser1551Tyr)
c.1418C>A (p.Ser473Tyr)
c.1280C>A (p.Ser427Tyr)
c.3842C>A (p.Ser1281Tyr)
c.4607C>A (p.Ser1536Tyr)
c.4796C>A (p.Ser1599Tyr)
c.4589C>A (p.Ser1530Tyr)
c.1292C>A (p.Ser431Tyr)
c.1337C>A (p.Ser446Tyr)
c.4793C>A (p.Ser1598Tyr)
c.1117C>A
c.1304C>A (p.Ser435Tyr)
c.*4513C>A (n.*4513C>A)
c.1043C>A (p.Ser348Tyr)
c.5-7233C>A (n.5-7233C>A)
c.203C>A (p.Ser68Tyr)
c.-98-20994C>A (n.-98-20994C>A)
n.4866C>A
n.4907C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43071185A=CA2260772994BRCA1c.4726T= (p.Ser1576=)
c.4729T= (p.Ser1577=)
c.4603T= (p.Ser1535=)
c.4723T= (p.Ser1575=)
c.4651T= (p.Ser1551=)
c.1417T= (p.Ser473=)
c.1279T= (p.Ser427=)
c.3841T= (p.Ser1281=)
c.4606T= (p.Ser1536=)
c.4795T= (p.Ser1599=)
c.4588T= (p.Ser1530=)
c.1291T= (p.Ser431=)
c.1336T= (p.Ser446=)
c.4792T= (p.Ser1598=)
c.1116T=
c.1303T= (p.Ser435=)
c.*4512T= (n.*4512T=)
c.1042T= (p.Ser348=)
c.5-7234T= (n.5-7234T=)
c.202T= (p.Ser68=)
c.-98-20995T= (n.-98-20995T=)
n.4865T=
n.4906T=
17g.43071185A>CCA10592048BRCA1c.4726T>G (p.Ser1576Ala)
c.4729T>G (p.Ser1577Ala)
c.4603T>G (p.Ser1535Ala)
c.4723T>G (p.Ser1575Ala)
c.4651T>G (p.Ser1551Ala)
c.1417T>G (p.Ser473Ala)
c.1279T>G (p.Ser427Ala)
c.3841T>G (p.Ser1281Ala)
c.4606T>G (p.Ser1536Ala)
c.4795T>G (p.Ser1599Ala)
c.4588T>G (p.Ser1530Ala)
c.1291T>G (p.Ser431Ala)
c.1336T>G (p.Ser446Ala)
c.4792T>G (p.Ser1598Ala)
c.1116T>G
c.1303T>G (p.Ser435Ala)
c.*4512T>G (n.*4512T>G)
c.1042T>G (p.Ser348Ala)
c.5-7234T>G (n.5-7234T>G)
c.202T>G (p.Ser68Ala)
c.-98-20995T>G (n.-98-20995T>G)
n.4865T>G
n.4906T>G
 ClinVar dbSNP
17g.43071185A>GCA002994BRCA1c.4726T>C (p.Ser1576Pro)
c.4729T>C (p.Ser1577Pro)
c.4603T>C (p.Ser1535Pro)
c.4723T>C (p.Ser1575Pro)
c.4651T>C (p.Ser1551Pro)
c.1417T>C (p.Ser473Pro)
c.1279T>C (p.Ser427Pro)
c.3841T>C (p.Ser1281Pro)
c.4606T>C (p.Ser1536Pro)
c.4795T>C (p.Ser1599Pro)
c.4588T>C (p.Ser1530Pro)
c.1291T>C (p.Ser431Pro)
c.1336T>C (p.Ser446Pro)
c.4792T>C (p.Ser1598Pro)
c.1116T>C
c.1303T>C (p.Ser435Pro)
c.*4512T>C (n.*4512T>C)
c.1042T>C (p.Ser348Pro)
c.5-7234T>C (n.5-7234T>C)
c.202T>C (p.Ser68Pro)
c.-98-20995T>C (n.-98-20995T>C)
n.4865T>C
n.4906T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43071185A>TCA10592049BRCA1c.4726T>A (p.Ser1576Thr)
c.4729T>A (p.Ser1577Thr)
c.4603T>A (p.Ser1535Thr)
c.4723T>A (p.Ser1575Thr)
c.4651T>A (p.Ser1551Thr)
c.1417T>A (p.Ser473Thr)
c.1279T>A (p.Ser427Thr)
c.3841T>A (p.Ser1281Thr)
c.4606T>A (p.Ser1536Thr)
c.4795T>A (p.Ser1599Thr)
c.4588T>A (p.Ser1530Thr)
c.1291T>A (p.Ser431Thr)
c.1336T>A (p.Ser446Thr)
c.4792T>A (p.Ser1598Thr)
c.1116T>A
c.1303T>A (p.Ser435Thr)
c.*4512T>A (n.*4512T>A)
c.1042T>A (p.Ser348Thr)
c.5-7234T>A (n.5-7234T>A)
c.202T>A (p.Ser68Thr)
c.-98-20995T>A (n.-98-20995T>A)
n.4865T>A
n.4906T>A
 dbSNP
17g.43071186T>ACA10592050BRCA1c.4725A>T (p.Glu1575Asp)
c.4728A>T (p.Glu1576Asp)
c.4602A>T (p.Glu1534Asp)
c.4722A>T (p.Glu1574Asp)
c.4650A>T (p.Glu1550Asp)
c.1416A>T (p.Glu472Asp)
c.1278A>T (p.Glu426Asp)
c.3840A>T (p.Glu1280Asp)
c.4605A>T (p.Glu1535Asp)
c.4794A>T (p.Glu1598Asp)
c.4587A>T (p.Glu1529Asp)
c.1290A>T (p.Glu430Asp)
c.1335A>T (p.Glu445Asp)
c.4791A>T (p.Glu1597Asp)
c.1115A>T
c.1302A>T (p.Glu434Asp)
c.*4511A>T (n.*4511A>T)
c.1041A>T (p.Glu347Asp)
c.5-7235A>T (n.5-7235A>T)
c.201A>T (p.Glu67Asp)
c.-98-20996A>T (n.-98-20996A>T)
n.4864A>T
n.4905A>T
 dbSNP
17g.43071186T>CCA500231877BRCA1c.4725A>G (p.Glu1575=)
c.4728A>G (p.Glu1576=)
c.4602A>G (p.Glu1534=)
c.4722A>G (p.Glu1574=)
c.4650A>G (p.Glu1550=)
c.1416A>G (p.Glu472=)
c.1278A>G (p.Glu426=)
c.3840A>G (p.Glu1280=)
c.4605A>G (p.Glu1535=)
c.4794A>G (p.Glu1598=)
c.4587A>G (p.Glu1529=)
c.1290A>G (p.Glu430=)
c.1335A>G (p.Glu445=)
c.4791A>G (p.Glu1597=)
c.1115A>G
c.1302A>G (p.Glu434=)
c.*4511A>G (n.*4511A>G)
c.1041A>G (p.Glu347=)
c.5-7235A>G (n.5-7235A>G)
c.201A>G (p.Glu67=)
c.-98-20996A>G (n.-98-20996A>G)
n.4864A>G
n.4905A>G
 ClinVar dbSNP gnomAD v4
17g.43071186T>GCA10592051BRCA1c.4725A>C (p.Glu1575Asp)
c.4728A>C (p.Glu1576Asp)
c.4602A>C (p.Glu1534Asp)
c.4722A>C (p.Glu1574Asp)
c.4650A>C (p.Glu1550Asp)
c.1416A>C (p.Glu472Asp)
c.1278A>C (p.Glu426Asp)
c.3840A>C (p.Glu1280Asp)
c.4605A>C (p.Glu1535Asp)
c.4794A>C (p.Glu1598Asp)
c.4587A>C (p.Glu1529Asp)
c.1290A>C (p.Glu430Asp)
c.1335A>C (p.Glu445Asp)
c.4791A>C (p.Glu1597Asp)
c.1115A>C
c.1302A>C (p.Glu434Asp)
c.*4511A>C (n.*4511A>C)
c.1041A>C (p.Glu347Asp)
c.5-7235A>C (n.5-7235A>C)
c.201A>C (p.Glu67Asp)
c.-98-20996A>C (n.-98-20996A>C)
n.4864A>C
n.4905A>C
 dbSNP
17g.43071186T=CA2260772995BRCA1c.4725A= (p.Glu1575=)
c.4728A= (p.Glu1576=)
c.4602A= (p.Glu1534=)
c.4722A= (p.Glu1574=)
c.4650A= (p.Glu1550=)
c.1416A= (p.Glu472=)
c.1278A= (p.Glu426=)
c.3840A= (p.Glu1280=)
c.4605A= (p.Glu1535=)
c.4794A= (p.Glu1598=)
c.4587A= (p.Glu1529=)
c.1290A= (p.Glu430=)
c.1335A= (p.Glu445=)
c.4791A= (p.Glu1597=)
c.1115A=
c.1302A= (p.Glu434=)
c.*4511A= (n.*4511A=)
c.1041A= (p.Glu347=)
c.5-7235A= (n.5-7235A=)
c.201A= (p.Glu67=)
c.-98-20996A= (n.-98-20996A=)
n.4864A=
n.4905A=
17g.43071187T>ACA10592052BRCA1c.4724A>T (p.Glu1575Val)
c.4727A>T (p.Glu1576Val)
c.4601A>T (p.Glu1534Val)
c.4721A>T (p.Glu1574Val)
c.4649A>T (p.Glu1550Val)
c.1415A>T (p.Glu472Val)
c.1277A>T (p.Glu426Val)
c.3839A>T (p.Glu1280Val)
c.4604A>T (p.Glu1535Val)
c.4793A>T (p.Glu1598Val)
c.4586A>T (p.Glu1529Val)
c.1289A>T (p.Glu430Val)
c.1334A>T (p.Glu445Val)
c.4790A>T (p.Glu1597Val)
c.1114A>T
c.1301A>T (p.Glu434Val)
c.*4510A>T (n.*4510A>T)
c.1040A>T (p.Glu347Val)
c.5-7236A>T (n.5-7236A>T)
c.200A>T (p.Glu67Val)
c.-98-20997A>T (n.-98-20997A>T)
n.4863A>T
n.4904A>T
 dbSNP
17g.43071187T>CCA10580510BRCA1c.4724A>G (p.Glu1575Gly)
c.4727A>G (p.Glu1576Gly)
c.4601A>G (p.Glu1534Gly)
c.4721A>G (p.Glu1574Gly)
c.4649A>G (p.Glu1550Gly)
c.1415A>G (p.Glu472Gly)
c.1277A>G (p.Glu426Gly)
c.3839A>G (p.Glu1280Gly)
c.4604A>G (p.Glu1535Gly)
c.4793A>G (p.Glu1598Gly)
c.4586A>G (p.Glu1529Gly)
c.1289A>G (p.Glu430Gly)
c.1334A>G (p.Glu445Gly)
c.4790A>G (p.Glu1597Gly)
c.1114A>G
c.1301A>G (p.Glu434Gly)
c.*4510A>G (n.*4510A>G)
c.1040A>G (p.Glu347Gly)
c.5-7236A>G (n.5-7236A>G)
c.200A>G (p.Glu67Gly)
c.-98-20997A>G (n.-98-20997A>G)
n.4863A>G
n.4904A>G
 ClinVar dbSNP
17g.43071187T>GCA10592053BRCA1c.4724A>C (p.Glu1575Ala)
c.4727A>C (p.Glu1576Ala)
c.4601A>C (p.Glu1534Ala)
c.4721A>C (p.Glu1574Ala)
c.4649A>C (p.Glu1550Ala)
c.1415A>C (p.Glu472Ala)
c.1277A>C (p.Glu426Ala)
c.3839A>C (p.Glu1280Ala)
c.4604A>C (p.Glu1535Ala)
c.4793A>C (p.Glu1598Ala)
c.4586A>C (p.Glu1529Ala)
c.1289A>C (p.Glu430Ala)
c.1334A>C (p.Glu445Ala)
c.4790A>C (p.Glu1597Ala)
c.1114A>C
c.1301A>C (p.Glu434Ala)
c.*4510A>C (n.*4510A>C)
c.1040A>C (p.Glu347Ala)
c.5-7236A>C (n.5-7236A>C)
c.200A>C (p.Glu67Ala)
c.-98-20997A>C (n.-98-20997A>C)
n.4863A>C
n.4904A>C
17g.43071187T=CA2260772996BRCA1c.4724A= (p.Glu1575=)
c.4727A= (p.Glu1576=)
c.4601A= (p.Glu1534=)
c.4721A= (p.Glu1574=)
c.4649A= (p.Glu1550=)
c.1415A= (p.Glu472=)
c.1277A= (p.Glu426=)
c.3839A= (p.Glu1280=)
c.4604A= (p.Glu1535=)
c.4793A= (p.Glu1598=)
c.4586A= (p.Glu1529=)
c.1289A= (p.Glu430=)
c.1334A= (p.Glu445=)
c.4790A= (p.Glu1597=)
c.1114A=
c.1301A= (p.Glu434=)
c.*4510A= (n.*4510A=)
c.1040A= (p.Glu347=)
c.5-7236A= (n.5-7236A=)
c.200A= (p.Glu67=)
c.-98-20997A= (n.-98-20997A=)
n.4863A=
n.4904A=
17g.43071188C>ACA10592054BRCA1c.4723G>T (p.Glu1575Ter)
c.4726G>T (p.Glu1576Ter)
c.4600G>T (p.Glu1534Ter)
c.4720G>T (p.Glu1574Ter)
c.4648G>T (p.Glu1550Ter)
c.1414G>T (p.Glu472Ter)
c.1276G>T (p.Glu426Ter)
c.3838G>T (p.Glu1280Ter)
c.4603G>T (p.Glu1535Ter)
c.4792G>T (p.Glu1598Ter)
c.4585G>T (p.Glu1529Ter)
c.1288G>T (p.Glu430Ter)
c.1333G>T (p.Glu445Ter)
c.4789G>T (p.Glu1597Ter)
c.1113G>T
c.1300G>T (p.Glu434Ter)
c.*4509G>T (n.*4509G>T)
c.1039G>T (p.Glu347Ter)
c.5-7237G>T (n.5-7237G>T)
c.199G>T (p.Glu67Ter)
c.-98-20998G>T (n.-98-20998G>T)
n.4862G>T
n.4903G>T
 dbSNP
17g.43071188C=CA2260772997BRCA1c.4723G= (p.Glu1575=)
c.4726G= (p.Glu1576=)
c.4600G= (p.Glu1534=)
c.4720G= (p.Glu1574=)
c.4648G= (p.Glu1550=)
c.1414G= (p.Glu472=)
c.1276G= (p.Glu426=)
c.3838G= (p.Glu1280=)
c.4603G= (p.Glu1535=)
c.4792G= (p.Glu1598=)
c.4585G= (p.Glu1529=)
c.1288G= (p.Glu430=)
c.1333G= (p.Glu445=)
c.4789G= (p.Glu1597=)
c.1113G=
c.1300G= (p.Glu434=)
c.*4509G= (n.*4509G=)
c.1039G= (p.Glu347=)
c.5-7237G= (n.5-7237G=)
c.199G= (p.Glu67=)
c.-98-20998G= (n.-98-20998G=)
n.4862G=
n.4903G=
17g.43071188C>GCA10592055BRCA1c.4723G>C (p.Glu1575Gln)
c.4726G>C (p.Glu1576Gln)
c.4600G>C (p.Glu1534Gln)
c.4720G>C (p.Glu1574Gln)
c.4648G>C (p.Glu1550Gln)
c.1414G>C (p.Glu472Gln)
c.1276G>C (p.Glu426Gln)
c.3838G>C (p.Glu1280Gln)
c.4603G>C (p.Glu1535Gln)
c.4792G>C (p.Glu1598Gln)
c.4585G>C (p.Glu1529Gln)
c.1288G>C (p.Glu430Gln)
c.1333G>C (p.Glu445Gln)
c.4789G>C (p.Glu1597Gln)
c.1113G>C
c.1300G>C (p.Glu434Gln)
c.*4509G>C (n.*4509G>C)
c.1039G>C (p.Glu347Gln)
c.5-7237G>C (n.5-7237G>C)
c.199G>C (p.Glu67Gln)
c.-98-20998G>C (n.-98-20998G>C)
n.4862G>C
n.4903G>C
 ClinVar dbSNP
17g.43071188C>TCA10592056BRCA1c.4723G>A (p.Glu1575Lys)
c.4726G>A (p.Glu1576Lys)
c.4600G>A (p.Glu1534Lys)
c.4720G>A (p.Glu1574Lys)
c.4648G>A (p.Glu1550Lys)
c.1414G>A (p.Glu472Lys)
c.1276G>A (p.Glu426Lys)
c.3838G>A (p.Glu1280Lys)
c.4603G>A (p.Glu1535Lys)
c.4792G>A (p.Glu1598Lys)
c.4585G>A (p.Glu1529Lys)
c.1288G>A (p.Glu430Lys)
c.1333G>A (p.Glu445Lys)
c.4789G>A (p.Glu1597Lys)
c.1113G>A
c.1300G>A (p.Glu434Lys)
c.*4509G>A (n.*4509G>A)
c.1039G>A (p.Glu347Lys)
c.5-7237G>A (n.5-7237G>A)
c.199G>A (p.Glu67Lys)
c.-98-20998G>A (n.-98-20998G>A)
n.4862G>A
n.4903G>A
 ClinVar dbSNP
17g.43071189A=CA2260772999BRCA1c.4722T= (p.Pro1574=)
c.4725T= (p.Pro1575=)
c.4599T= (p.Pro1533=)
c.4719T= (p.Pro1573=)
c.4647T= (p.Pro1549=)
c.1413T= (p.Pro471=)
c.1275T= (p.Pro425=)
c.3837T= (p.Pro1279=)
c.4602T= (p.Pro1534=)
c.4791T= (p.Pro1597=)
c.4584T= (p.Pro1528=)
c.1287T= (p.Pro429=)
c.1332T= (p.Pro444=)
c.4788T= (p.Pro1596=)
c.1112T=
c.1299T= (p.Pro433=)
c.*4508T= (n.*4508T=)
c.1038T= (p.Pro346=)
c.5-7238T= (n.5-7238T=)
c.198T= (p.Pro66=)
c.-98-20999T= (n.-98-20999T=)
n.4861T=
n.4902T=
17g.43071189A>CCA10583558BRCA1c.4722T>G (p.Pro1574=)
c.4725T>G (p.Pro1575=)
c.4599T>G (p.Pro1533=)
c.4719T>G (p.Pro1573=)
c.4647T>G (p.Pro1549=)
c.1413T>G (p.Pro471=)
c.1275T>G (p.Pro425=)
c.3837T>G (p.Pro1279=)
c.4602T>G (p.Pro1534=)
c.4791T>G (p.Pro1597=)
c.4584T>G (p.Pro1528=)
c.1287T>G (p.Pro429=)
c.1332T>G (p.Pro444=)
c.4788T>G (p.Pro1596=)
c.1112T>G
c.1299T>G (p.Pro433=)
c.*4508T>G (n.*4508T>G)
c.1038T>G (p.Pro346=)
c.5-7238T>G (n.5-7238T>G)
c.198T>G (p.Pro66=)
c.-98-20999T>G (n.-98-20999T>G)
n.4861T>G
n.4902T>G
 ClinVar dbSNP
17g.43071189A>GCA500231878BRCA1c.4722T>C (p.Pro1574=)
c.4725T>C (p.Pro1575=)
c.4599T>C (p.Pro1533=)
c.4719T>C (p.Pro1573=)
c.4647T>C (p.Pro1549=)
c.1413T>C (p.Pro471=)
c.1275T>C (p.Pro425=)
c.3837T>C (p.Pro1279=)
c.4602T>C (p.Pro1534=)
c.4791T>C (p.Pro1597=)
c.4584T>C (p.Pro1528=)
c.1287T>C (p.Pro429=)
c.1332T>C (p.Pro444=)
c.4788T>C (p.Pro1596=)
c.1112T>C
c.1299T>C (p.Pro433=)
c.*4508T>C (n.*4508T>C)
c.1038T>C (p.Pro346=)
c.5-7238T>C (n.5-7238T>C)
c.198T>C (p.Pro66=)
c.-98-20999T>C (n.-98-20999T>C)
n.4861T>C
n.4902T>C
 ClinVar dbSNP
17g.43071189A>TCA500231879BRCA1c.4722T>A (p.Pro1574=)
c.4725T>A (p.Pro1575=)
c.4599T>A (p.Pro1533=)
c.4719T>A (p.Pro1573=)
c.4647T>A (p.Pro1549=)
c.1413T>A (p.Pro471=)
c.1275T>A (p.Pro425=)
c.3837T>A (p.Pro1279=)
c.4602T>A (p.Pro1534=)
c.4791T>A (p.Pro1597=)
c.4584T>A (p.Pro1528=)
c.1287T>A (p.Pro429=)
c.1332T>A (p.Pro444=)
c.4788T>A (p.Pro1596=)
c.1112T>A
c.1299T>A (p.Pro433=)
c.*4508T>A (n.*4508T>A)
c.1038T>A (p.Pro346=)
c.5-7238T>A (n.5-7238T>A)
c.198T>A (p.Pro66=)
c.-98-20999T>A (n.-98-20999T>A)
n.4861T>A
n.4902T>A
17g.43071189_43071190delinsAGCA2260772998BRCA1c.4721_4722delinsCT (p.Pro1574=)
c.4724_4725delinsCT (p.Pro1575=)
c.4598_4599delinsCT (p.Pro1533=)
c.4718_4719delinsCT (p.Pro1573=)
c.4646_4647delinsCT (p.Pro1549=)
c.1412_1413delinsCT (p.Pro471=)
c.1274_1275delinsCT (p.Pro425=)
c.3836_3837delinsCT (p.Pro1279=)
c.4601_4602delinsCT (p.Pro1534=)
c.4790_4791delinsCT (p.Pro1597=)
c.4583_4584delinsCT (p.Pro1528=)
c.1286_1287delinsCT (p.Pro429=)
c.1331_1332delinsCT (p.Pro444=)
c.4787_4788delinsCT (p.Pro1596=)
c.1111_1112delinsCT
c.1298_1299delinsCT (p.Pro433=)
c.*4507_*4508delinsCT (n.*4507_*4508delinsCT)
c.1037_1038delinsCT (p.Pro346=)
c.5-7239_5-7238delinsCT (n.5-7239_5-7238delinsCT)
c.197_198delinsCT (p.Pro66=)
c.-98-21000_-98-20999delinsCT (n.-98-21000_-98-20999delinsCT)
n.4860_4861delinsCT
n.4901_4902delinsCT
17g.43071190G>ACA10592057BRCA1c.4721C>T (p.Pro1574Leu)
c.4724C>T (p.Pro1575Leu)
c.4598C>T (p.Pro1533Leu)
c.4718C>T (p.Pro1573Leu)
c.4646C>T (p.Pro1549Leu)
c.1412C>T (p.Pro471Leu)
c.1274C>T (p.Pro425Leu)
c.3836C>T (p.Pro1279Leu)
c.4601C>T (p.Pro1534Leu)
c.4790C>T (p.Pro1597Leu)
c.4583C>T (p.Pro1528Leu)
c.1286C>T (p.Pro429Leu)
c.1331C>T (p.Pro444Leu)
c.4787C>T (p.Pro1596Leu)
c.1111C>T
c.1298C>T (p.Pro433Leu)
c.*4507C>T (n.*4507C>T)
c.1037C>T (p.Pro346Leu)
c.5-7239C>T (n.5-7239C>T)
c.197C>T (p.Pro66Leu)
c.-98-21000C>T (n.-98-21000C>T)
n.4860C>T
n.4901C>T
 ClinVar dbSNP
17g.43071190G>CCA10592058BRCA1c.4721C>G (p.Pro1574Arg)
c.4724C>G (p.Pro1575Arg)
c.4598C>G (p.Pro1533Arg)
c.4718C>G (p.Pro1573Arg)
c.4646C>G (p.Pro1549Arg)
c.1412C>G (p.Pro471Arg)
c.1274C>G (p.Pro425Arg)
c.3836C>G (p.Pro1279Arg)
c.4601C>G (p.Pro1534Arg)
c.4790C>G (p.Pro1597Arg)
c.4583C>G (p.Pro1528Arg)
c.1286C>G (p.Pro429Arg)
c.1331C>G (p.Pro444Arg)
c.4787C>G (p.Pro1596Arg)
c.1111C>G
c.1298C>G (p.Pro433Arg)
c.*4507C>G (n.*4507C>G)
c.1037C>G (p.Pro346Arg)
c.5-7239C>G (n.5-7239C>G)
c.197C>G (p.Pro66Arg)
c.-98-21000C>G (n.-98-21000C>G)
n.4860C>G
n.4901C>G
 dbSNP gnomAD v4
17g.43071190G=CA2260773000BRCA1c.4721C= (p.Pro1574=)
c.4724C= (p.Pro1575=)
c.4598C= (p.Pro1533=)
c.4718C= (p.Pro1573=)
c.4646C= (p.Pro1549=)
c.1412C= (p.Pro471=)
c.1274C= (p.Pro425=)
c.3836C= (p.Pro1279=)
c.4601C= (p.Pro1534=)
c.4790C= (p.Pro1597=)
c.4583C= (p.Pro1528=)
c.1286C= (p.Pro429=)
c.1331C= (p.Pro444=)
c.4787C= (p.Pro1596=)
c.1111C=
c.1298C= (p.Pro433=)
c.*4507C= (n.*4507C=)
c.1037C= (p.Pro346=)
c.5-7239C= (n.5-7239C=)
c.197C= (p.Pro66=)
c.-98-21000C= (n.-98-21000C=)
n.4860C=
n.4901C=
17g.43071190G>TCA002992BRCA1c.4721C>A (p.Pro1574His)
c.4724C>A (p.Pro1575His)
c.4598C>A (p.Pro1533His)
c.4718C>A (p.Pro1573His)
c.4646C>A (p.Pro1549His)
c.1412C>A (p.Pro471His)
c.1274C>A (p.Pro425His)
c.3836C>A (p.Pro1279His)
c.4601C>A (p.Pro1534His)
c.4790C>A (p.Pro1597His)
c.4583C>A (p.Pro1528His)
c.1286C>A (p.Pro429His)
c.1331C>A (p.Pro444His)
c.4787C>A (p.Pro1596His)
c.1111C>A
c.1298C>A (p.Pro433His)
c.*4507C>A (n.*4507C>A)
c.1037C>A (p.Pro346His)
c.5-7239C>A (n.5-7239C>A)
c.197C>A (p.Pro66His)
c.-98-21000C>A (n.-98-21000C>A)
n.4860C>A
n.4901C>A
 ClinVar dbSNP
17g.43071192delCA002993BRCA1c.4721del (p.Pro1574LeufsTer26)
c.4724del (p.Pro1575LeufsTer26)
c.4598del (p.Pro1533LeufsTer26)
c.4718del (p.Pro1573LeufsTer26)
c.4646del (p.Pro1549LeufsTer26)
c.1412del (p.Pro471LeufsTer26)
c.1274del (p.Pro425LeufsTer26)
c.3836del (p.Pro1279LeufsTer26)
c.4601del (p.Pro1534LeufsTer26)
c.4790del (p.Pro1597LeufsTer26)
c.4583del (p.Pro1528LeufsTer26)
c.1286del (p.Pro429LeufsTer26)
c.1331del (p.Pro444LeufsTer26)
c.4787del (p.Pro1596LeufsTer26)
c.1111del
c.1298del (p.Pro433LeufsTer26)
c.*4507del (n.*4507del)
c.1037del (p.Pro346LeufsTer26)
c.5-7239del (n.5-7239del)
c.197del (p.Pro66LeufsTer26)
c.-98-21000del (n.-98-21000del)
n.4860del
n.4901del
 ClinVar dbSNP
17g.43071191G>ACA10592059BRCA1c.4720C>T (p.Pro1574Ser)
c.4723C>T (p.Pro1575Ser)
c.4597C>T (p.Pro1533Ser)
c.4717C>T (p.Pro1573Ser)
c.4645C>T (p.Pro1549Ser)
c.1411C>T (p.Pro471Ser)
c.1273C>T (p.Pro425Ser)
c.3835C>T (p.Pro1279Ser)
c.4600C>T (p.Pro1534Ser)
c.4789C>T (p.Pro1597Ser)
c.4582C>T (p.Pro1528Ser)
c.1285C>T (p.Pro429Ser)
c.1330C>T (p.Pro444Ser)
c.4786C>T (p.Pro1596Ser)
c.1110C>T
c.1297C>T (p.Pro433Ser)
c.*4506C>T (n.*4506C>T)
c.1036C>T (p.Pro346Ser)
c.5-7240C>T (n.5-7240C>T)
c.196C>T (p.Pro66Ser)
c.-98-21001C>T (n.-98-21001C>T)
n.4859C>T
n.4900C>T
 dbSNP
17g.43071191G>CCA10592060BRCA1c.4720C>G (p.Pro1574Ala)
c.4723C>G (p.Pro1575Ala)
c.4597C>G (p.Pro1533Ala)
c.4717C>G (p.Pro1573Ala)
c.4645C>G (p.Pro1549Ala)
c.1411C>G (p.Pro471Ala)
c.1273C>G (p.Pro425Ala)
c.3835C>G (p.Pro1279Ala)
c.4600C>G (p.Pro1534Ala)
c.4789C>G (p.Pro1597Ala)
c.4582C>G (p.Pro1528Ala)
c.1285C>G (p.Pro429Ala)
c.1330C>G (p.Pro444Ala)
c.4786C>G (p.Pro1596Ala)
c.1110C>G
c.1297C>G (p.Pro433Ala)
c.*4506C>G (n.*4506C>G)
c.1036C>G (p.Pro346Ala)
c.5-7240C>G (n.5-7240C>G)
c.196C>G (p.Pro66Ala)
c.-98-21001C>G (n.-98-21001C>G)
n.4859C>G
n.4900C>G
17g.43071191G=CA2260773001BRCA1c.4720C= (p.Pro1574=)
c.4723C= (p.Pro1575=)
c.4597C= (p.Pro1533=)
c.4717C= (p.Pro1573=)
c.4645C= (p.Pro1549=)
c.1411C= (p.Pro471=)
c.1273C= (p.Pro425=)
c.3835C= (p.Pro1279=)
c.4600C= (p.Pro1534=)
c.4789C= (p.Pro1597=)
c.4582C= (p.Pro1528=)
c.1285C= (p.Pro429=)
c.1330C= (p.Pro444=)
c.4786C= (p.Pro1596=)
c.1110C=
c.1297C= (p.Pro433=)
c.*4506C= (n.*4506C=)
c.1036C= (p.Pro346=)
c.5-7240C= (n.5-7240C=)
c.196C= (p.Pro66=)
c.-98-21001C= (n.-98-21001C=)
n.4859C=
n.4900C=
17g.43071191G>TCA10592061BRCA1c.4720C>A (p.Pro1574Thr)
c.4723C>A (p.Pro1575Thr)
c.4597C>A (p.Pro1533Thr)
c.4717C>A (p.Pro1573Thr)
c.4645C>A (p.Pro1549Thr)
c.1411C>A (p.Pro471Thr)
c.1273C>A (p.Pro425Thr)
c.3835C>A (p.Pro1279Thr)
c.4600C>A (p.Pro1534Thr)
c.4789C>A (p.Pro1597Thr)
c.4582C>A (p.Pro1528Thr)
c.1285C>A (p.Pro429Thr)
c.1330C>A (p.Pro444Thr)
c.4786C>A (p.Pro1596Thr)
c.1110C>A
c.1297C>A (p.Pro433Thr)
c.*4506C>A (n.*4506C>A)
c.1036C>A (p.Pro346Thr)
c.5-7240C>A (n.5-7240C>A)
c.196C>A (p.Pro66Thr)
c.-98-21001C>A (n.-98-21001C>A)
n.4859C>A
n.4900C>A
 ClinVar dbSNP
17g.43071192G>ACA500231880BRCA1c.4719C>T (p.Asp1573=)
c.4722C>T (p.Asp1574=)
c.4596C>T (p.Asp1532=)
c.4716C>T (p.Asp1572=)
c.4644C>T (p.Asp1548=)
c.1410C>T (p.Asp470=)
c.1272C>T (p.Asp424=)
c.3834C>T (p.Asp1278=)
c.4599C>T (p.Asp1533=)
c.4788C>T (p.Asp1596=)
c.4581C>T (p.Asp1527=)
c.1284C>T (p.Asp428=)
c.1329C>T (p.Asp443=)
c.4785C>T (p.Asp1595=)
c.1109C>T
c.1296C>T (p.Asp432=)
c.*4505C>T (n.*4505C>T)
c.1035C>T (p.Asp345=)
c.5-7241C>T (n.5-7241C>T)
c.195C>T (p.Asp65=)
c.-98-21002C>T (n.-98-21002C>T)
n.4858C>T
n.4899C>T
 ClinVar dbSNP gnomAD v4
17g.43071192G>CCA10592062BRCA1c.4719C>G (p.Asp1573Glu)
c.4722C>G (p.Asp1574Glu)
c.4596C>G (p.Asp1532Glu)
c.4716C>G (p.Asp1572Glu)
c.4644C>G (p.Asp1548Glu)
c.1410C>G (p.Asp470Glu)
c.1272C>G (p.Asp424Glu)
c.3834C>G (p.Asp1278Glu)
c.4599C>G (p.Asp1533Glu)
c.4788C>G (p.Asp1596Glu)
c.4581C>G (p.Asp1527Glu)
c.1284C>G (p.Asp428Glu)
c.1329C>G (p.Asp443Glu)
c.4785C>G (p.Asp1595Glu)
c.1109C>G
c.1296C>G (p.Asp432Glu)
c.*4505C>G (n.*4505C>G)
c.1035C>G (p.Asp345Glu)
c.5-7241C>G (n.5-7241C>G)
c.195C>G (p.Asp65Glu)
c.-98-21002C>G (n.-98-21002C>G)
n.4858C>G
n.4899C>G
 dbSNP
17g.43071192G>TCA10592063BRCA1c.4719C>A (p.Asp1573Glu)
c.4722C>A (p.Asp1574Glu)
c.4596C>A (p.Asp1532Glu)
c.4716C>A (p.Asp1572Glu)
c.4644C>A (p.Asp1548Glu)
c.1410C>A (p.Asp470Glu)
c.1272C>A (p.Asp424Glu)
c.3834C>A (p.Asp1278Glu)
c.4599C>A (p.Asp1533Glu)
c.4788C>A (p.Asp1596Glu)
c.4581C>A (p.Asp1527Glu)
c.1284C>A (p.Asp428Glu)
c.1329C>A (p.Asp443Glu)
c.4785C>A (p.Asp1595Glu)
c.1109C>A
c.1296C>A (p.Asp432Glu)
c.*4505C>A (n.*4505C>A)
c.1035C>A (p.Asp345Glu)
c.5-7241C>A (n.5-7241C>A)
c.195C>A (p.Asp65Glu)
c.-98-21002C>A (n.-98-21002C>A)
n.4858C>A
n.4899C>A
 dbSNP
17g.43071193delCA2638062624BRCA1c.4718del (p.Asp1573AlafsTer27)
c.4721del (p.Asp1574AlafsTer27)
c.4595del (p.Asp1532AlafsTer27)
c.4715del (p.Asp1572AlafsTer27)
c.4643del (p.Asp1548AlafsTer27)
c.1409del (p.Asp470AlafsTer27)
c.1271del (p.Asp424AlafsTer27)
c.3833del (p.Asp1278AlafsTer27)
c.4598del (p.Asp1533AlafsTer27)
c.4787del (p.Asp1596AlafsTer27)
c.4580del (p.Asp1527AlafsTer27)
c.1283del (p.Asp428AlafsTer27)
c.1328del (p.Asp443AlafsTer27)
c.4784del (p.Asp1595AlafsTer27)
c.1108del
c.1295del (p.Asp432AlafsTer27)
c.*4504del (n.*4504del)
c.1034del (p.Asp345AlafsTer27)
c.5-7242del (n.5-7242del)
c.194del (p.Asp65AlafsTer27)
c.-98-21003del (n.-98-21003del)
n.4857del
n.4898del
 gnomAD v4
17g.43071193T>ACA10592064BRCA1c.4718A>T (p.Asp1573Val)
c.4721A>T (p.Asp1574Val)
c.4595A>T (p.Asp1532Val)
c.4715A>T (p.Asp1572Val)
c.4643A>T (p.Asp1548Val)
c.1409A>T (p.Asp470Val)
c.1271A>T (p.Asp424Val)
c.3833A>T (p.Asp1278Val)
c.4598A>T (p.Asp1533Val)
c.4787A>T (p.Asp1596Val)
c.4580A>T (p.Asp1527Val)
c.1283A>T (p.Asp428Val)
c.1328A>T (p.Asp443Val)
c.4784A>T (p.Asp1595Val)
c.1108A>T
c.1295A>T (p.Asp432Val)
c.*4504A>T (n.*4504A>T)
c.1034A>T (p.Asp345Val)
c.5-7242A>T (n.5-7242A>T)
c.194A>T (p.Asp65Val)
c.-98-21003A>T (n.-98-21003A>T)
n.4857A>T
n.4898A>T
 dbSNP
17g.43071193T>CCA10592065BRCA1c.4718A>G (p.Asp1573Gly)
c.4721A>G (p.Asp1574Gly)
c.4595A>G (p.Asp1532Gly)
c.4715A>G (p.Asp1572Gly)
c.4643A>G (p.Asp1548Gly)
c.1409A>G (p.Asp470Gly)
c.1271A>G (p.Asp424Gly)
c.3833A>G (p.Asp1278Gly)
c.4598A>G (p.Asp1533Gly)
c.4787A>G (p.Asp1596Gly)
c.4580A>G (p.Asp1527Gly)
c.1283A>G (p.Asp428Gly)
c.1328A>G (p.Asp443Gly)
c.4784A>G (p.Asp1595Gly)
c.1108A>G
c.1295A>G (p.Asp432Gly)
c.*4504A>G (n.*4504A>G)
c.1034A>G (p.Asp345Gly)
c.5-7242A>G (n.5-7242A>G)
c.194A>G (p.Asp65Gly)
c.-98-21003A>G (n.-98-21003A>G)
n.4857A>G
n.4898A>G
 dbSNP
17g.43071193T>GCA10592066BRCA1c.4718A>C (p.Asp1573Ala)
c.4721A>C (p.Asp1574Ala)
c.4595A>C (p.Asp1532Ala)
c.4715A>C (p.Asp1572Ala)
c.4643A>C (p.Asp1548Ala)
c.1409A>C (p.Asp470Ala)
c.1271A>C (p.Asp424Ala)
c.3833A>C (p.Asp1278Ala)
c.4598A>C (p.Asp1533Ala)
c.4787A>C (p.Asp1596Ala)
c.4580A>C (p.Asp1527Ala)
c.1283A>C (p.Asp428Ala)
c.1328A>C (p.Asp443Ala)
c.4784A>C (p.Asp1595Ala)
c.1108A>C
c.1295A>C (p.Asp432Ala)
c.*4504A>C (n.*4504A>C)
c.1034A>C (p.Asp345Ala)
c.5-7242A>C (n.5-7242A>C)
c.194A>C (p.Asp65Ala)
c.-98-21003A>C (n.-98-21003A>C)
n.4857A>C
n.4898A>C
 dbSNP
17g.43071194C>ACA10592067BRCA1c.4717G>T (p.Asp1573Tyr)
c.4720G>T (p.Asp1574Tyr)
c.4594G>T (p.Asp1532Tyr)
c.4714G>T (p.Asp1572Tyr)
c.4642G>T (p.Asp1548Tyr)
c.1408G>T (p.Asp470Tyr)
c.1270G>T (p.Asp424Tyr)
c.3832G>T (p.Asp1278Tyr)
c.4597G>T (p.Asp1533Tyr)
c.4786G>T (p.Asp1596Tyr)
c.4579G>T (p.Asp1527Tyr)
c.1282G>T (p.Asp428Tyr)
c.1327G>T (p.Asp443Tyr)
c.4783G>T (p.Asp1595Tyr)
c.1107G>T
c.1294G>T (p.Asp432Tyr)
c.*4503G>T (n.*4503G>T)
c.1033G>T (p.Asp345Tyr)
c.5-7243G>T (n.5-7243G>T)
c.193G>T (p.Asp65Tyr)
c.-98-21004G>T (n.-98-21004G>T)
n.4856G>T
n.4897G>T
 ClinVar dbSNP
17g.43071194C=CA2260773002BRCA1c.4717G= (p.Asp1573=)
c.4720G= (p.Asp1574=)
c.4594G= (p.Asp1532=)
c.4714G= (p.Asp1572=)
c.4642G= (p.Asp1548=)
c.1408G= (p.Asp470=)
c.1270G= (p.Asp424=)
c.3832G= (p.Asp1278=)
c.4597G= (p.Asp1533=)
c.4786G= (p.Asp1596=)
c.4579G= (p.Asp1527=)
c.1282G= (p.Asp428=)
c.1327G= (p.Asp443=)
c.4783G= (p.Asp1595=)
c.1107G=
c.1294G= (p.Asp432=)
c.*4503G= (n.*4503G=)
c.1033G= (p.Asp345=)
c.5-7243G= (n.5-7243G=)
c.193G= (p.Asp65=)
c.-98-21004G= (n.-98-21004G=)
n.4856G=
n.4897G=
17g.43071194C>GCA10592068BRCA1c.4717G>C (p.Asp1573His)
c.4720G>C (p.Asp1574His)
c.4594G>C (p.Asp1532His)
c.4714G>C (p.Asp1572His)
c.4642G>C (p.Asp1548His)
c.1408G>C (p.Asp470His)
c.1270G>C (p.Asp424His)
c.3832G>C (p.Asp1278His)
c.4597G>C (p.Asp1533His)
c.4786G>C (p.Asp1596His)
c.4579G>C (p.Asp1527His)
c.1282G>C (p.Asp428His)
c.1327G>C (p.Asp443His)
c.4783G>C (p.Asp1595His)
c.1107G>C
c.1294G>C (p.Asp432His)
c.*4503G>C (n.*4503G>C)
c.1033G>C (p.Asp345His)
c.5-7243G>C (n.5-7243G>C)
c.193G>C (p.Asp65His)
c.-98-21004G>C (n.-98-21004G>C)
n.4856G>C
n.4897G>C
 dbSNP
17g.43071194C>TCA10592069BRCA1c.4717G>A (p.Asp1573Asn)
c.4720G>A (p.Asp1574Asn)
c.4594G>A (p.Asp1532Asn)
c.4714G>A (p.Asp1572Asn)
c.4642G>A (p.Asp1548Asn)
c.1408G>A (p.Asp470Asn)
c.1270G>A (p.Asp424Asn)
c.3832G>A (p.Asp1278Asn)
c.4597G>A (p.Asp1533Asn)
c.4786G>A (p.Asp1596Asn)
c.4579G>A (p.Asp1527Asn)
c.1282G>A (p.Asp428Asn)
c.1327G>A (p.Asp443Asn)
c.4783G>A (p.Asp1595Asn)
c.1107G>A
c.1294G>A (p.Asp432Asn)
c.*4503G>A (n.*4503G>A)
c.1033G>A (p.Asp345Asn)
c.5-7243G>A (n.5-7243G>A)
c.193G>A (p.Asp65Asn)
c.-98-21004G>A (n.-98-21004G>A)
n.4856G>A
n.4897G>A
 dbSNP
17g.43071195A=CA2260773003BRCA1c.4716T= (p.Asp1572=)
c.4719T= (p.Asp1573=)
c.4593T= (p.Asp1531=)
c.4713T= (p.Asp1571=)
c.4641T= (p.Asp1547=)
c.1407T= (p.Asp469=)
c.1269T= (p.Asp423=)
c.3831T= (p.Asp1277=)
c.4596T= (p.Asp1532=)
c.4785T= (p.Asp1595=)
c.4578T= (p.Asp1526=)
c.1281T= (p.Asp427=)
c.1326T= (p.Asp442=)
c.4782T= (p.Asp1594=)
c.1106T=
c.1293T= (p.Asp431=)
c.*4502T= (n.*4502T=)
c.1032T= (p.Asp344=)
c.5-7244T= (n.5-7244T=)
c.192T= (p.Asp64=)
c.-98-21005T= (n.-98-21005T=)
n.4855T=
n.4896T=
17g.43071195A>CCA10592070BRCA1c.4716T>G (p.Asp1572Glu)
c.4719T>G (p.Asp1573Glu)
c.4593T>G (p.Asp1531Glu)
c.4713T>G (p.Asp1571Glu)
c.4641T>G (p.Asp1547Glu)
c.1407T>G (p.Asp469Glu)
c.1269T>G (p.Asp423Glu)
c.3831T>G (p.Asp1277Glu)
c.4596T>G (p.Asp1532Glu)
c.4785T>G (p.Asp1595Glu)
c.4578T>G (p.Asp1526Glu)
c.1281T>G (p.Asp427Glu)
c.1326T>G (p.Asp442Glu)
c.4782T>G (p.Asp1594Glu)
c.1106T>G
c.1293T>G (p.Asp431Glu)
c.*4502T>G (n.*4502T>G)
c.1032T>G (p.Asp344Glu)
c.5-7244T>G (n.5-7244T>G)
c.192T>G (p.Asp64Glu)
c.-98-21005T>G (n.-98-21005T>G)
n.4855T>G
n.4896T>G
17g.43071195A>GCA16607259BRCA1c.4716T>C (p.Asp1572=)
c.4719T>C (p.Asp1573=)
c.4593T>C (p.Asp1531=)
c.4713T>C (p.Asp1571=)
c.4641T>C (p.Asp1547=)
c.1407T>C (p.Asp469=)
c.1269T>C (p.Asp423=)
c.3831T>C (p.Asp1277=)
c.4596T>C (p.Asp1532=)
c.4785T>C (p.Asp1595=)
c.4578T>C (p.Asp1526=)
c.1281T>C (p.Asp427=)
c.1326T>C (p.Asp442=)
c.4782T>C (p.Asp1594=)
c.1106T>C
c.1293T>C (p.Asp431=)
c.*4502T>C (n.*4502T>C)
c.1032T>C (p.Asp344=)
c.5-7244T>C (n.5-7244T>C)
c.192T>C (p.Asp64=)
c.-98-21005T>C (n.-98-21005T>C)
n.4855T>C
n.4896T>C
 ClinVar dbSNP
17g.43071195A>TCA10592071BRCA1c.4716T>A (p.Asp1572Glu)
c.4719T>A (p.Asp1573Glu)
c.4593T>A (p.Asp1531Glu)
c.4713T>A (p.Asp1571Glu)
c.4641T>A (p.Asp1547Glu)
c.1407T>A (p.Asp469Glu)
c.1269T>A (p.Asp423Glu)
c.3831T>A (p.Asp1277Glu)
c.4596T>A (p.Asp1532Glu)
c.4785T>A (p.Asp1595Glu)
c.4578T>A (p.Asp1526Glu)
c.1281T>A (p.Asp427Glu)
c.1326T>A (p.Asp442Glu)
c.4782T>A (p.Asp1594Glu)
c.1106T>A
c.1293T>A (p.Asp431Glu)
c.*4502T>A (n.*4502T>A)
c.1032T>A (p.Asp344Glu)
c.5-7244T>A (n.5-7244T>A)
c.192T>A (p.Asp64Glu)
c.-98-21005T>A (n.-98-21005T>A)
n.4855T>A
n.4896T>A
 dbSNP
17g.43071196T>ACA10592072BRCA1c.4715A>T (p.Asp1572Val)
c.4718A>T (p.Asp1573Val)
c.4592A>T (p.Asp1531Val)
c.4712A>T (p.Asp1571Val)
c.4640A>T (p.Asp1547Val)
c.1406A>T (p.Asp469Val)
c.1268A>T (p.Asp423Val)
c.3830A>T (p.Asp1277Val)
c.4595A>T (p.Asp1532Val)
c.4784A>T (p.Asp1595Val)
c.4577A>T (p.Asp1526Val)
c.1280A>T (p.Asp427Val)
c.1325A>T (p.Asp442Val)
c.4781A>T (p.Asp1594Val)
c.1105A>T
c.1292A>T (p.Asp431Val)
c.*4501A>T (n.*4501A>T)
c.1031A>T (p.Asp344Val)
c.5-7245A>T (n.5-7245A>T)
c.191A>T (p.Asp64Val)
c.-98-21006A>T (n.-98-21006A>T)
n.4854A>T
n.4895A>T
 dbSNP
17g.43071196T>CCA10592073BRCA1c.4715A>G (p.Asp1572Gly)
c.4718A>G (p.Asp1573Gly)
c.4592A>G (p.Asp1531Gly)
c.4712A>G (p.Asp1571Gly)
c.4640A>G (p.Asp1547Gly)
c.1406A>G (p.Asp469Gly)
c.1268A>G (p.Asp423Gly)
c.3830A>G (p.Asp1277Gly)
c.4595A>G (p.Asp1532Gly)
c.4784A>G (p.Asp1595Gly)
c.4577A>G (p.Asp1526Gly)
c.1280A>G (p.Asp427Gly)
c.1325A>G (p.Asp442Gly)
c.4781A>G (p.Asp1594Gly)
c.1105A>G
c.1292A>G (p.Asp431Gly)
c.*4501A>G (n.*4501A>G)
c.1031A>G (p.Asp344Gly)
c.5-7245A>G (n.5-7245A>G)
c.191A>G (p.Asp64Gly)
c.-98-21006A>G (n.-98-21006A>G)
n.4854A>G
n.4895A>G
 dbSNP
17g.43071196T>GCA10592074BRCA1c.4715A>C (p.Asp1572Ala)
c.4718A>C (p.Asp1573Ala)
c.4592A>C (p.Asp1531Ala)
c.4712A>C (p.Asp1571Ala)
c.4640A>C (p.Asp1547Ala)
c.1406A>C (p.Asp469Ala)
c.1268A>C (p.Asp423Ala)
c.3830A>C (p.Asp1277Ala)
c.4595A>C (p.Asp1532Ala)
c.4784A>C (p.Asp1595Ala)
c.4577A>C (p.Asp1526Ala)
c.1280A>C (p.Asp427Ala)
c.1325A>C (p.Asp442Ala)
c.4781A>C (p.Asp1594Ala)
c.1105A>C
c.1292A>C (p.Asp431Ala)
c.*4501A>C (n.*4501A>C)
c.1031A>C (p.Asp344Ala)
c.5-7245A>C (n.5-7245A>C)
c.191A>C (p.Asp64Ala)
c.-98-21006A>C (n.-98-21006A>C)
n.4854A>C
n.4895A>C
17g.43071196_43071197delinsTCCA2260773004BRCA1c.4714_4715delinsGA (p.Asp1572=)
c.4717_4718delinsGA (p.Asp1573=)
c.4591_4592delinsGA (p.Asp1531=)
c.4711_4712delinsGA (p.Asp1571=)
c.4639_4640delinsGA (p.Asp1547=)
c.1405_1406delinsGA (p.Asp469=)
c.1267_1268delinsGA (p.Asp423=)
c.3829_3830delinsGA (p.Asp1277=)
c.4594_4595delinsGA (p.Asp1532=)
c.4783_4784delinsGA (p.Asp1595=)
c.4576_4577delinsGA (p.Asp1526=)
c.1279_1280delinsGA (p.Asp427=)
c.1324_1325delinsGA (p.Asp442=)
c.4780_4781delinsGA (p.Asp1594=)
c.1104_1105delinsGA
c.1291_1292delinsGA (p.Asp431=)
c.*4500_*4501delinsGA (n.*4500_*4501delinsGA)
c.1030_1031delinsGA (p.Asp344=)
c.5-7246_5-7245delinsGA (n.5-7246_5-7245delinsGA)
c.190_191delinsGA (p.Asp64=)
c.-98-21007_-98-21006delinsGA (n.-98-21007_-98-21006delinsGA)
n.4853_4854delinsGA
n.4894_4895delinsGA
17g.43071197delCA916080200BRCA1c.4714del (p.Asp1572MetfsTer28)
c.4717del (p.Asp1573MetfsTer28)
c.4591del (p.Asp1531MetfsTer28)
c.4711del (p.Asp1571MetfsTer28)
c.4639del (p.Asp1547MetfsTer28)
c.1405del (p.Asp469MetfsTer28)
c.1267del (p.Asp423MetfsTer28)
c.3829del (p.Asp1277MetfsTer28)
c.4594del (p.Asp1532MetfsTer28)
c.4783del (p.Asp1595MetfsTer28)
c.4576del (p.Asp1526MetfsTer28)
c.1279del (p.Asp427MetfsTer28)
c.1324del (p.Asp442MetfsTer28)
c.4780del (p.Asp1594MetfsTer28)
c.1104del
c.1291del (p.Asp431MetfsTer28)
c.*4500del (n.*4500del)
c.1030del (p.Asp344MetfsTer28)
c.5-7246del (n.5-7246del)
c.190del (p.Asp64MetfsTer28)
c.-98-21007del (n.-98-21007del)
n.4853del
n.4894del
 ClinVar dbSNP
17g.43071197C>ACA10592075BRCA1c.4714G>T (p.Asp1572Tyr)
c.4717G>T (p.Asp1573Tyr)
c.4591G>T (p.Asp1531Tyr)
c.4711G>T (p.Asp1571Tyr)
c.4639G>T (p.Asp1547Tyr)
c.1405G>T (p.Asp469Tyr)
c.1267G>T (p.Asp423Tyr)
c.3829G>T (p.Asp1277Tyr)
c.4594G>T (p.Asp1532Tyr)
c.4783G>T (p.Asp1595Tyr)
c.4576G>T (p.Asp1526Tyr)
c.1279G>T (p.Asp427Tyr)
c.1324G>T (p.Asp442Tyr)
c.4780G>T (p.Asp1594Tyr)
c.1104G>T
c.1291G>T (p.Asp431Tyr)
c.*4500G>T (n.*4500G>T)
c.1030G>T (p.Asp344Tyr)
c.5-7246G>T (n.5-7246G>T)
c.190G>T (p.Asp64Tyr)
c.-98-21007G>T (n.-98-21007G>T)
n.4853G>T
n.4894G>T
 dbSNP
17g.43071197C=CA2260773005BRCA1c.4714G= (p.Asp1572=)
c.4717G= (p.Asp1573=)
c.4591G= (p.Asp1531=)
c.4711G= (p.Asp1571=)
c.4639G= (p.Asp1547=)
c.1405G= (p.Asp469=)
c.1267G= (p.Asp423=)
c.3829G= (p.Asp1277=)
c.4594G= (p.Asp1532=)
c.4783G= (p.Asp1595=)
c.4576G= (p.Asp1526=)
c.1279G= (p.Asp427=)
c.1324G= (p.Asp442=)
c.4780G= (p.Asp1594=)
c.1104G=
c.1291G= (p.Asp431=)
c.*4500G= (n.*4500G=)
c.1030G= (p.Asp344=)
c.5-7246G= (n.5-7246G=)
c.190G= (p.Asp64=)
c.-98-21007G= (n.-98-21007G=)
n.4853G=
n.4894G=
17g.43071197C>GCA10592076BRCA1c.4714G>C (p.Asp1572His)
c.4717G>C (p.Asp1573His)
c.4591G>C (p.Asp1531His)
c.4711G>C (p.Asp1571His)
c.4639G>C (p.Asp1547His)
c.1405G>C (p.Asp469His)
c.1267G>C (p.Asp423His)
c.3829G>C (p.Asp1277His)
c.4594G>C (p.Asp1532His)
c.4783G>C (p.Asp1595His)
c.4576G>C (p.Asp1526His)
c.1279G>C (p.Asp427His)
c.1324G>C (p.Asp442His)
c.4780G>C (p.Asp1594His)
c.1104G>C
c.1291G>C (p.Asp431His)
c.*4500G>C (n.*4500G>C)
c.1030G>C (p.Asp344His)
c.5-7246G>C (n.5-7246G>C)
c.190G>C (p.Asp64His)
c.-98-21007G>C (n.-98-21007G>C)
n.4853G>C
n.4894G>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43071197C>TCA10592077BRCA1c.4714G>A (p.Asp1572Asn)
c.4717G>A (p.Asp1573Asn)
c.4591G>A (p.Asp1531Asn)
c.4711G>A (p.Asp1571Asn)
c.4639G>A (p.Asp1547Asn)
c.1405G>A (p.Asp469Asn)
c.1267G>A (p.Asp423Asn)
c.3829G>A (p.Asp1277Asn)
c.4594G>A (p.Asp1532Asn)
c.4783G>A (p.Asp1595Asn)
c.4576G>A (p.Asp1526Asn)
c.1279G>A (p.Asp427Asn)
c.1324G>A (p.Asp442Asn)
c.4780G>A (p.Asp1594Asn)
c.1104G>A
c.1291G>A (p.Asp431Asn)
c.*4500G>A (n.*4500G>A)
c.1030G>A (p.Asp344Asn)
c.5-7246G>A (n.5-7246G>A)
c.190G>A (p.Asp64Asn)
c.-98-21007G>A (n.-98-21007G>A)
n.4853G>A
n.4894G>A
 dbSNP gnomAD v4
17g.43071197_43071202delinsCAGAGACA2260773006BRCA1c.4709_4714delinsTCTCTG (p.Phe1570=)
c.4712_4717delinsTCTCTG (p.Phe1571=)
c.4586_4591delinsTCTCTG (p.Phe1529=)
c.4706_4711delinsTCTCTG (p.Phe1569=)
c.4634_4639delinsTCTCTG (p.Phe1545=)
c.1400_1405delinsTCTCTG (p.Phe467=)
c.1262_1267delinsTCTCTG (p.Phe421=)
c.3824_3829delinsTCTCTG (p.Phe1275=)
c.4589_4594delinsTCTCTG (p.Phe1530=)
c.4778_4783delinsTCTCTG (p.Phe1593=)
c.4571_4576delinsTCTCTG (p.Phe1524=)
c.1274_1279delinsTCTCTG (p.Phe425=)
c.1319_1324delinsTCTCTG (p.Phe440=)
c.4775_4780delinsTCTCTG (p.Phe1592=)
c.1099_1104delinsTCTCTG
c.1286_1291delinsTCTCTG (p.Phe429=)
c.*4495_*4500delinsTCTCTG (n.*4495_*4500delinsTCTCTG)
c.1025_1030delinsTCTCTG (p.Phe342=)
c.5-7251_5-7246delinsTCTCTG (n.5-7251_5-7246delinsTCTCTG)
c.185_190delinsTCTCTG (p.Phe62=)
c.-98-21012_-98-21007delinsTCTCTG (n.-98-21012_-98-21007delinsTCTCTG)
n.4848_4853delinsTCTCTG
n.4889_4894delinsTCTCTG
17g.43071198_43074416dupCA658653641BRCA1c.4588_4714dup
c.4591_4717dup
c.4465_4591dup
c.4585_4711dup
c.4513_4639dup
c.1279_1405dup
c.1141_1267dup
c.3703_3829dup
c.4468_4594dup
c.4657_4783dup
c.4450_4576dup
c.1153_1279dup
c.1198_1324dup
c.4654_4780dup
c.978_1104dup
c.1165_1291dup
c.*4374_*4500dup
c.904_1030dup
c.5-10464_5-7246dup (n.5-10464_5-7246dup)
c.64_190dup
c.-98-24225_-98-21007dup (n.-98-24225_-98-21007dup)
n.4727_4853dup
n.4768_4894dup
17g.43071198delCA2733916232BRCA1c.4713del (p.Asp1572MetfsTer28)
c.4716del (p.Asp1573MetfsTer28)
c.4590del (p.Asp1531MetfsTer28)
c.4710del (p.Asp1571MetfsTer28)
c.4638del (p.Asp1547MetfsTer28)
c.1404del (p.Asp469MetfsTer28)
c.1266del (p.Asp423MetfsTer28)
c.3828del (p.Asp1277MetfsTer28)
c.4593del (p.Asp1532MetfsTer28)
c.4782del (p.Asp1595MetfsTer28)
c.4575del (p.Asp1526MetfsTer28)
c.1278del (p.Asp427MetfsTer28)
c.1323del (p.Asp442MetfsTer28)
c.4779del (p.Asp1594MetfsTer28)
c.1103del
c.1290del (p.Asp431MetfsTer28)
c.*4499del (n.*4499del)
c.1029del (p.Asp344MetfsTer28)
c.5-7247del (n.5-7247del)
c.189del (p.Asp64MetfsTer28)
c.-98-21008del (n.-98-21008del)
n.4852del
n.4893del
 dbSNP
17g.43071198A=CA2260773007BRCA1c.4713T= (p.Ser1571=)
c.4716T= (p.Ser1572=)
c.4590T= (p.Ser1530=)
c.4710T= (p.Ser1570=)
c.4638T= (p.Ser1546=)
c.1404T= (p.Ser468=)
c.1266T= (p.Ser422=)
c.3828T= (p.Ser1276=)
c.4593T= (p.Ser1531=)
c.4782T= (p.Ser1594=)
c.4575T= (p.Ser1525=)
c.1278T= (p.Ser426=)
c.1323T= (p.Ser441=)
c.4779T= (p.Ser1593=)
c.1103T=
c.1290T= (p.Ser430=)
c.*4499T= (n.*4499T=)
c.1029T= (p.Ser343=)
c.5-7247T= (n.5-7247T=)
c.189T= (p.Ser63=)
c.-98-21008T= (n.-98-21008T=)
n.4852T=
n.4893T=
17g.43071198A>CCA500231883BRCA1c.4713T>G (p.Ser1571=)
c.4716T>G (p.Ser1572=)
c.4590T>G (p.Ser1530=)
c.4710T>G (p.Ser1570=)
c.4638T>G (p.Ser1546=)
c.1404T>G (p.Ser468=)
c.1266T>G (p.Ser422=)
c.3828T>G (p.Ser1276=)
c.4593T>G (p.Ser1531=)
c.4782T>G (p.Ser1594=)
c.4575T>G (p.Ser1525=)
c.1278T>G (p.Ser426=)
c.1323T>G (p.Ser441=)
c.4779T>G (p.Ser1593=)
c.1103T>G
c.1290T>G (p.Ser430=)
c.*4499T>G (n.*4499T>G)
c.1029T>G (p.Ser343=)
c.5-7247T>G (n.5-7247T>G)
c.189T>G (p.Ser63=)
c.-98-21008T>G (n.-98-21008T>G)
n.4852T>G
n.4893T>G
 ClinVar dbSNP
17g.43071198A>GCA500231881BRCA1c.4713T>C (p.Ser1571=)
c.4716T>C (p.Ser1572=)
c.4590T>C (p.Ser1530=)
c.4710T>C (p.Ser1570=)
c.4638T>C (p.Ser1546=)
c.1404T>C (p.Ser468=)
c.1266T>C (p.Ser422=)
c.3828T>C (p.Ser1276=)
c.4593T>C (p.Ser1531=)
c.4782T>C (p.Ser1594=)
c.4575T>C (p.Ser1525=)
c.1278T>C (p.Ser426=)
c.1323T>C (p.Ser441=)
c.4779T>C (p.Ser1593=)
c.1103T>C
c.1290T>C (p.Ser430=)
c.*4499T>C (n.*4499T>C)
c.1029T>C (p.Ser343=)
c.5-7247T>C (n.5-7247T>C)
c.189T>C (p.Ser63=)
c.-98-21008T>C (n.-98-21008T>C)
n.4852T>C
n.4893T>C
17g.43071198A>TCA500231882BRCA1c.4713T>A (p.Ser1571=)
c.4716T>A (p.Ser1572=)
c.4590T>A (p.Ser1530=)
c.4710T>A (p.Ser1570=)
c.4638T>A (p.Ser1546=)
c.1404T>A (p.Ser468=)
c.1266T>A (p.Ser422=)
c.3828T>A (p.Ser1276=)
c.4593T>A (p.Ser1531=)
c.4782T>A (p.Ser1594=)
c.4575T>A (p.Ser1525=)
c.1278T>A (p.Ser426=)
c.1323T>A (p.Ser441=)
c.4779T>A (p.Ser1593=)
c.1103T>A
c.1290T>A (p.Ser430=)
c.*4499T>A (n.*4499T>A)
c.1029T>A (p.Ser343=)
c.5-7247T>A (n.5-7247T>A)
c.189T>A (p.Ser63=)
c.-98-21008T>A (n.-98-21008T>A)
n.4852T>A
n.4893T>A
 dbSNP
17g.43071201_43071202delCA2580612628BRCA1c.4712_4713del (p.Ser1571Ter)
c.4715_4716del (p.Ser1572Ter)
c.4589_4590del (p.Ser1530Ter)
c.4709_4710del (p.Ser1570Ter)
c.4637_4638del (p.Ser1546Ter)
c.1403_1404del (p.Ser468Ter)
c.1265_1266del (p.Ser422Ter)
c.3827_3828del (p.Ser1276Ter)
c.4592_4593del (p.Ser1531Ter)
c.4781_4782del (p.Ser1594Ter)
c.4574_4575del (p.Ser1525Ter)
c.1277_1278del (p.Ser426Ter)
c.1322_1323del (p.Ser441Ter)
c.4778_4779del (p.Ser1593Ter)
c.1102_1103del
c.1289_1290del (p.Ser430Ter)
c.*4498_*4499del (n.*4498_*4499del)
c.1028_1029del (p.Ser343Ter)
c.5-7248_5-7247del (n.5-7248_5-7247del)
c.188_189del (p.Ser63Ter)
c.-98-21009_-98-21008del (n.-98-21009_-98-21008del)
n.4851_4852del
n.4892_4893del
 ClinVar dbSNP
17g.43071202_43071206delCA002990BRCA1c.4709_4713del (p.Phe1570Ter)
c.4712_4716del (p.Phe1571Ter)
c.4586_4590del (p.Phe1529Ter)
c.4706_4710del (p.Phe1569Ter)
c.4634_4638del (p.Phe1545Ter)
c.1400_1404del (p.Phe467Ter)
c.1262_1266del (p.Phe421Ter)
c.3824_3828del (p.Phe1275Ter)
c.4589_4593del (p.Phe1530Ter)
c.4778_4782del (p.Phe1593Ter)
c.4571_4575del (p.Phe1524Ter)
c.1274_1278del (p.Phe425Ter)
c.1319_1323del (p.Phe440Ter)
c.4775_4779del (p.Phe1592Ter)
c.1099_1103del
c.1286_1290del (p.Phe429Ter)
c.*4495_*4499del (n.*4495_*4499del)
c.1025_1029del (p.Phe342Ter)
c.5-7251_5-7247del (n.5-7251_5-7247del)
c.185_189del (p.Phe62Ter)
c.-98-21012_-98-21008del (n.-98-21012_-98-21008del)
n.4848_4852del
n.4889_4893del
 ClinVar dbSNP
17g.43071199G>ACA10592078BRCA1c.4712C>T (p.Ser1571Phe)
c.4715C>T (p.Ser1572Phe)
c.4589C>T (p.Ser1530Phe)
c.4709C>T (p.Ser1570Phe)
c.4637C>T (p.Ser1546Phe)
c.1403C>T (p.Ser468Phe)
c.1265C>T (p.Ser422Phe)
c.3827C>T (p.Ser1276Phe)
c.4592C>T (p.Ser1531Phe)
c.4781C>T (p.Ser1594Phe)
c.4574C>T (p.Ser1525Phe)
c.1277C>T (p.Ser426Phe)
c.1322C>T (p.Ser441Phe)
c.4778C>T (p.Ser1593Phe)
c.1102C>T
c.1289C>T (p.Ser430Phe)
c.*4498C>T (n.*4498C>T)
c.1028C>T (p.Ser343Phe)
c.5-7248C>T (n.5-7248C>T)
c.188C>T (p.Ser63Phe)
c.-98-21009C>T (n.-98-21009C>T)
n.4851C>T
n.4892C>T
 ClinVar
17g.43071199G>CCA10592079BRCA1c.4712C>G (p.Ser1571Cys)
c.4715C>G (p.Ser1572Cys)
c.4589C>G (p.Ser1530Cys)
c.4709C>G (p.Ser1570Cys)
c.4637C>G (p.Ser1546Cys)
c.1403C>G (p.Ser468Cys)
c.1265C>G (p.Ser422Cys)
c.3827C>G (p.Ser1276Cys)
c.4592C>G (p.Ser1531Cys)
c.4781C>G (p.Ser1594Cys)
c.4574C>G (p.Ser1525Cys)
c.1277C>G (p.Ser426Cys)
c.1322C>G (p.Ser441Cys)
c.4778C>G (p.Ser1593Cys)
c.1102C>G
c.1289C>G (p.Ser430Cys)
c.*4498C>G (n.*4498C>G)
c.1028C>G (p.Ser343Cys)
c.5-7248C>G (n.5-7248C>G)
c.188C>G (p.Ser63Cys)
c.-98-21009C>G (n.-98-21009C>G)
n.4851C>G
n.4892C>G
 ClinVar
17g.43071199G>TCA10592080BRCA1c.4712C>A (p.Ser1571Tyr)
c.4715C>A (p.Ser1572Tyr)
c.4589C>A (p.Ser1530Tyr)
c.4709C>A (p.Ser1570Tyr)
c.4637C>A (p.Ser1546Tyr)
c.1403C>A (p.Ser468Tyr)
c.1265C>A (p.Ser422Tyr)
c.3827C>A (p.Ser1276Tyr)
c.4592C>A (p.Ser1531Tyr)
c.4781C>A (p.Ser1594Tyr)
c.4574C>A (p.Ser1525Tyr)
c.1277C>A (p.Ser426Tyr)
c.1322C>A (p.Ser441Tyr)
c.4778C>A (p.Ser1593Tyr)
c.1102C>A
c.1289C>A (p.Ser430Tyr)
c.*4498C>A (n.*4498C>A)
c.1028C>A (p.Ser343Tyr)
c.5-7248C>A (n.5-7248C>A)
c.188C>A (p.Ser63Tyr)
c.-98-21009C>A (n.-98-21009C>A)
n.4851C>A
n.4892C>A
17g.43071200A>CCA10592081BRCA1c.4711T>G (p.Ser1571Ala)
c.4714T>G (p.Ser1572Ala)
c.4588T>G (p.Ser1530Ala)
c.4708T>G (p.Ser1570Ala)
c.4636T>G (p.Ser1546Ala)
c.1402T>G (p.Ser468Ala)
c.1264T>G (p.Ser422Ala)
c.3826T>G (p.Ser1276Ala)
c.4591T>G (p.Ser1531Ala)
c.4780T>G (p.Ser1594Ala)
c.4573T>G (p.Ser1525Ala)
c.1276T>G (p.Ser426Ala)
c.1321T>G (p.Ser441Ala)
c.4777T>G (p.Ser1593Ala)
c.1101T>G
c.1288T>G (p.Ser430Ala)
c.*4497T>G (n.*4497T>G)
c.1027T>G (p.Ser343Ala)
c.5-7249T>G (n.5-7249T>G)
c.187T>G (p.Ser63Ala)
c.-98-21010T>G (n.-98-21010T>G)
n.4850T>G
n.4891T>G
17g.43071200A>GCA10592082BRCA1c.4711T>C (p.Ser1571Pro)
c.4714T>C (p.Ser1572Pro)
c.4588T>C (p.Ser1530Pro)
c.4708T>C (p.Ser1570Pro)
c.4636T>C (p.Ser1546Pro)
c.1402T>C (p.Ser468Pro)
c.1264T>C (p.Ser422Pro)
c.3826T>C (p.Ser1276Pro)
c.4591T>C (p.Ser1531Pro)
c.4780T>C (p.Ser1594Pro)
c.4573T>C (p.Ser1525Pro)
c.1276T>C (p.Ser426Pro)
c.1321T>C (p.Ser441Pro)
c.4777T>C (p.Ser1593Pro)
c.1101T>C
c.1288T>C (p.Ser430Pro)
c.*4497T>C (n.*4497T>C)
c.1027T>C (p.Ser343Pro)
c.5-7249T>C (n.5-7249T>C)
c.187T>C (p.Ser63Pro)
c.-98-21010T>C (n.-98-21010T>C)
n.4850T>C
n.4891T>C
 dbSNP
17g.43071200A>TCA10592083BRCA1c.4711T>A (p.Ser1571Thr)
c.4714T>A (p.Ser1572Thr)
c.4588T>A (p.Ser1530Thr)
c.4708T>A (p.Ser1570Thr)
c.4636T>A (p.Ser1546Thr)
c.1402T>A (p.Ser468Thr)
c.1264T>A (p.Ser422Thr)
c.3826T>A (p.Ser1276Thr)
c.4591T>A (p.Ser1531Thr)
c.4780T>A (p.Ser1594Thr)
c.4573T>A (p.Ser1525Thr)
c.1276T>A (p.Ser426Thr)
c.1321T>A (p.Ser441Thr)
c.4777T>A (p.Ser1593Thr)
c.1101T>A
c.1288T>A (p.Ser430Thr)
c.*4497T>A (n.*4497T>A)
c.1027T>A (p.Ser343Thr)
c.5-7249T>A (n.5-7249T>A)
c.187T>A (p.Ser63Thr)
c.-98-21010T>A (n.-98-21010T>A)
n.4850T>A
n.4891T>A
17g.43071201G>ACA500231884BRCA1c.4710C>T (p.Phe1570=)
c.4713C>T (p.Phe1571=)
c.4587C>T (p.Phe1529=)
c.4707C>T (p.Phe1569=)
c.4635C>T (p.Phe1545=)
c.1401C>T (p.Phe467=)
c.1263C>T (p.Phe421=)
c.3825C>T (p.Phe1275=)
c.4590C>T (p.Phe1530=)
c.4779C>T (p.Phe1593=)
c.4572C>T (p.Phe1524=)
c.1275C>T (p.Phe425=)
c.1320C>T (p.Phe440=)
c.4776C>T (p.Phe1592=)
c.1100C>T
c.1287C>T (p.Phe429=)
c.*4496C>T (n.*4496C>T)
c.1026C>T (p.Phe342=)
c.5-7250C>T (n.5-7250C>T)
c.186C>T (p.Phe62=)
c.-98-21011C>T (n.-98-21011C>T)
n.4849C>T
n.4890C>T
 ClinVar dbSNP
17g.43071201G>CCA052816BRCA1c.4710C>G (p.Phe1570Leu)
c.4713C>G (p.Phe1571Leu)
c.4587C>G (p.Phe1529Leu)
c.4707C>G (p.Phe1569Leu)
c.4635C>G (p.Phe1545Leu)
c.1401C>G (p.Phe467Leu)
c.1263C>G (p.Phe421Leu)
c.3825C>G (p.Phe1275Leu)
c.4590C>G (p.Phe1530Leu)
c.4779C>G (p.Phe1593Leu)
c.4572C>G (p.Phe1524Leu)
c.1275C>G (p.Phe425Leu)
c.1320C>G (p.Phe440Leu)
c.4776C>G (p.Phe1592Leu)
c.1100C>G
c.1287C>G (p.Phe429Leu)
c.*4496C>G (n.*4496C>G)
c.1026C>G (p.Phe342Leu)
c.5-7250C>G (n.5-7250C>G)
c.186C>G (p.Phe62Leu)
c.-98-21011C>G (n.-98-21011C>G)
n.4849C>G
n.4890C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43071201G=CA2260773008BRCA1c.4710C= (p.Phe1570=)
c.4713C= (p.Phe1571=)
c.4587C= (p.Phe1529=)
c.4707C= (p.Phe1569=)
c.4635C= (p.Phe1545=)
c.1401C= (p.Phe467=)
c.1263C= (p.Phe421=)
c.3825C= (p.Phe1275=)
c.4590C= (p.Phe1530=)
c.4779C= (p.Phe1593=)
c.4572C= (p.Phe1524=)
c.1275C= (p.Phe425=)
c.1320C= (p.Phe440=)
c.4776C= (p.Phe1592=)
c.1100C=
c.1287C= (p.Phe429=)
c.*4496C= (n.*4496C=)
c.1026C= (p.Phe342=)
c.5-7250C= (n.5-7250C=)
c.186C= (p.Phe62=)
c.-98-21011C= (n.-98-21011C=)
n.4849C=
n.4890C=
17g.43071201G>TCA10592084BRCA1c.4710C>A (p.Phe1570Leu)
c.4713C>A (p.Phe1571Leu)
c.4587C>A (p.Phe1529Leu)
c.4707C>A (p.Phe1569Leu)
c.4635C>A (p.Phe1545Leu)
c.1401C>A (p.Phe467Leu)
c.1263C>A (p.Phe421Leu)
c.3825C>A (p.Phe1275Leu)
c.4590C>A (p.Phe1530Leu)
c.4779C>A (p.Phe1593Leu)
c.4572C>A (p.Phe1524Leu)
c.1275C>A (p.Phe425Leu)
c.1320C>A (p.Phe440Leu)
c.4776C>A (p.Phe1592Leu)
c.1100C>A
c.1287C>A (p.Phe429Leu)
c.*4496C>A (n.*4496C>A)
c.1026C>A (p.Phe342Leu)
c.5-7250C>A (n.5-7250C>A)
c.186C>A (p.Phe62Leu)
c.-98-21011C>A (n.-98-21011C>A)
n.4849C>A
n.4890C>A
 dbSNP
17g.43071201_43071202delinsGACA2260773009BRCA1c.4709_4710delinsTC (p.Phe1570=)
c.4712_4713delinsTC (p.Phe1571=)
c.4586_4587delinsTC (p.Phe1529=)
c.4706_4707delinsTC (p.Phe1569=)
c.4634_4635delinsTC (p.Phe1545=)
c.1400_1401delinsTC (p.Phe467=)
c.1262_1263delinsTC (p.Phe421=)
c.3824_3825delinsTC (p.Phe1275=)
c.4589_4590delinsTC (p.Phe1530=)
c.4778_4779delinsTC (p.Phe1593=)
c.4571_4572delinsTC (p.Phe1524=)
c.1274_1275delinsTC (p.Phe425=)
c.1319_1320delinsTC (p.Phe440=)
c.4775_4776delinsTC (p.Phe1592=)
c.1099_1100delinsTC
c.1286_1287delinsTC (p.Phe429=)
c.*4495_*4496delinsTC (n.*4495_*4496delinsTC)
c.1025_1026delinsTC (p.Phe342=)
c.5-7251_5-7250delinsTC (n.5-7251_5-7250delinsTC)
c.185_186delinsTC (p.Phe62=)
c.-98-21012_-98-21011delinsTC (n.-98-21012_-98-21011delinsTC)
n.4848_4849delinsTC
n.4889_4890delinsTC
17g.43071202A=CA2260773010BRCA1c.4709T= (p.Phe1570=)
c.4712T= (p.Phe1571=)
c.4586T= (p.Phe1529=)
c.4706T= (p.Phe1569=)
c.4634T= (p.Phe1545=)
c.1400T= (p.Phe467=)
c.1262T= (p.Phe421=)
c.3824T= (p.Phe1275=)
c.4589T= (p.Phe1530=)
c.4778T= (p.Phe1593=)
c.4571T= (p.Phe1524=)
c.1274T= (p.Phe425=)
c.1319T= (p.Phe440=)
c.4775T= (p.Phe1592=)
c.1099T=
c.1286T= (p.Phe429=)
c.*4495T= (n.*4495T=)
c.1025T= (p.Phe342=)
c.5-7251T= (n.5-7251T=)
c.185T= (p.Phe62=)
c.-98-21012T= (n.-98-21012T=)
n.4848T=
n.4889T=
17g.43071202A>CCA10592085BRCA1c.4709T>G (p.Phe1570Cys)
c.4712T>G (p.Phe1571Cys)
c.4586T>G (p.Phe1529Cys)
c.4706T>G (p.Phe1569Cys)
c.4634T>G (p.Phe1545Cys)
c.1400T>G (p.Phe467Cys)
c.1262T>G (p.Phe421Cys)
c.3824T>G (p.Phe1275Cys)
c.4589T>G (p.Phe1530Cys)
c.4778T>G (p.Phe1593Cys)
c.4571T>G (p.Phe1524Cys)
c.1274T>G (p.Phe425Cys)
c.1319T>G (p.Phe440Cys)
c.4775T>G (p.Phe1592Cys)
c.1099T>G
c.1286T>G (p.Phe429Cys)
c.*4495T>G (n.*4495T>G)
c.1025T>G (p.Phe342Cys)
c.5-7251T>G (n.5-7251T>G)
c.185T>G (p.Phe62Cys)
c.-98-21012T>G (n.-98-21012T>G)
n.4848T>G
n.4889T>G
17g.43071202A>GCA002991BRCA1c.4709T>C (p.Phe1570Ser)
c.4712T>C (p.Phe1571Ser)
c.4586T>C (p.Phe1529Ser)
c.4706T>C (p.Phe1569Ser)
c.4634T>C (p.Phe1545Ser)
c.1400T>C (p.Phe467Ser)
c.1262T>C (p.Phe421Ser)
c.3824T>C (p.Phe1275Ser)
c.4589T>C (p.Phe1530Ser)
c.4778T>C (p.Phe1593Ser)
c.4571T>C (p.Phe1524Ser)
c.1274T>C (p.Phe425Ser)
c.1319T>C (p.Phe440Ser)
c.4775T>C (p.Phe1592Ser)
c.1099T>C
c.1286T>C (p.Phe429Ser)
c.*4495T>C (n.*4495T>C)
c.1025T>C (p.Phe342Ser)
c.5-7251T>C (n.5-7251T>C)
c.185T>C (p.Phe62Ser)
c.-98-21012T>C (n.-98-21012T>C)
n.4848T>C
n.4889T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43071202A>TCA10592086BRCA1c.4709T>A (p.Phe1570Tyr)
c.4712T>A (p.Phe1571Tyr)
c.4586T>A (p.Phe1529Tyr)
c.4706T>A (p.Phe1569Tyr)
c.4634T>A (p.Phe1545Tyr)
c.1400T>A (p.Phe467Tyr)
c.1262T>A (p.Phe421Tyr)
c.3824T>A (p.Phe1275Tyr)
c.4589T>A (p.Phe1530Tyr)
c.4778T>A (p.Phe1593Tyr)
c.4571T>A (p.Phe1524Tyr)
c.1274T>A (p.Phe425Tyr)
c.1319T>A (p.Phe440Tyr)
c.4775T>A (p.Phe1592Tyr)
c.1099T>A
c.1286T>A (p.Phe429Tyr)
c.*4495T>A (n.*4495T>A)
c.1025T>A (p.Phe342Tyr)
c.5-7251T>A (n.5-7251T>A)
c.185T>A (p.Phe62Tyr)
c.-98-21012T>A (n.-98-21012T>A)
n.4848T>A
n.4889T>A
 dbSNP
17g.43071203delCA10575941BRCA1c.4709del (p.Phe1570SerfsTer30)
c.4712del (p.Phe1571SerfsTer30)
c.4586del (p.Phe1529SerfsTer30)
c.4706del (p.Phe1569SerfsTer30)
c.4634del (p.Phe1545SerfsTer30)
c.1400del (p.Phe467SerfsTer30)
c.1262del (p.Phe421SerfsTer30)
c.3824del (p.Phe1275SerfsTer30)
c.4589del (p.Phe1530SerfsTer30)
c.4778del (p.Phe1593SerfsTer30)
c.4571del (p.Phe1524SerfsTer30)
c.1274del (p.Phe425SerfsTer30)
c.1319del (p.Phe440SerfsTer30)
c.4775del (p.Phe1592SerfsTer30)
c.1099del
c.1286del (p.Phe429SerfsTer30)
c.*4495del (n.*4495del)
c.1025del (p.Phe342SerfsTer30)
c.5-7251del (n.5-7251del)
c.185del (p.Phe62SerfsTer30)
c.-98-21012del (n.-98-21012del)
n.4848del
n.4889del
 ClinVar dbSNP
17g.43071203A=CA2260773011BRCA1c.4708T= (p.Phe1570=)
c.4711T= (p.Phe1571=)
c.4585T= (p.Phe1529=)
c.4705T= (p.Phe1569=)
c.4633T= (p.Phe1545=)
c.1399T= (p.Phe467=)
c.1261T= (p.Phe421=)
c.3823T= (p.Phe1275=)
c.4588T= (p.Phe1530=)
c.4777T= (p.Phe1593=)
c.4570T= (p.Phe1524=)
c.1273T= (p.Phe425=)
c.1318T= (p.Phe440=)
c.4774T= (p.Phe1592=)
c.1098T=
c.1285T= (p.Phe429=)
c.*4494T= (n.*4494T=)
c.1024T= (p.Phe342=)
c.5-7252T= (n.5-7252T=)
c.184T= (p.Phe62=)
c.-98-21013T= (n.-98-21013T=)
n.4847T=
n.4888T=
17g.43071203A>CCA10592087BRCA1c.4708T>G (p.Phe1570Val)
c.4711T>G (p.Phe1571Val)
c.4585T>G (p.Phe1529Val)
c.4705T>G (p.Phe1569Val)
c.4633T>G (p.Phe1545Val)
c.1399T>G (p.Phe467Val)
c.1261T>G (p.Phe421Val)
c.3823T>G (p.Phe1275Val)
c.4588T>G (p.Phe1530Val)
c.4777T>G (p.Phe1593Val)
c.4570T>G (p.Phe1524Val)
c.1273T>G (p.Phe425Val)
c.1318T>G (p.Phe440Val)
c.4774T>G (p.Phe1592Val)
c.1098T>G
c.1285T>G (p.Phe429Val)
c.*4494T>G (n.*4494T>G)
c.1024T>G (p.Phe342Val)
c.5-7252T>G (n.5-7252T>G)
c.184T>G (p.Phe62Val)
c.-98-21013T>G (n.-98-21013T>G)
n.4847T>G
n.4888T>G
17g.43071203A>GCA10592088BRCA1c.4708T>C (p.Phe1570Leu)
c.4711T>C (p.Phe1571Leu)
c.4585T>C (p.Phe1529Leu)
c.4705T>C (p.Phe1569Leu)
c.4633T>C (p.Phe1545Leu)
c.1399T>C (p.Phe467Leu)
c.1261T>C (p.Phe421Leu)
c.3823T>C (p.Phe1275Leu)
c.4588T>C (p.Phe1530Leu)
c.4777T>C (p.Phe1593Leu)
c.4570T>C (p.Phe1524Leu)
c.1273T>C (p.Phe425Leu)
c.1318T>C (p.Phe440Leu)
c.4774T>C (p.Phe1592Leu)
c.1098T>C
c.1285T>C (p.Phe429Leu)
c.*4494T>C (n.*4494T>C)
c.1024T>C (p.Phe342Leu)
c.5-7252T>C (n.5-7252T>C)
c.184T>C (p.Phe62Leu)
c.-98-21013T>C (n.-98-21013T>C)
n.4847T>C
n.4888T>C
 ClinVar dbSNP
17g.43071203A>TCA10592089BRCA1c.4708T>A (p.Phe1570Ile)
c.4711T>A (p.Phe1571Ile)
c.4585T>A (p.Phe1529Ile)
c.4705T>A (p.Phe1569Ile)
c.4633T>A (p.Phe1545Ile)
c.1399T>A (p.Phe467Ile)
c.1261T>A (p.Phe421Ile)
c.3823T>A (p.Phe1275Ile)
c.4588T>A (p.Phe1530Ile)
c.4777T>A (p.Phe1593Ile)
c.4570T>A (p.Phe1524Ile)
c.1273T>A (p.Phe425Ile)
c.1318T>A (p.Phe440Ile)
c.4774T>A (p.Phe1592Ile)
c.1098T>A
c.1285T>A (p.Phe429Ile)
c.*4494T>A (n.*4494T>A)
c.1024T>A (p.Phe342Ile)
c.5-7252T>A (n.5-7252T>A)
c.184T>A (p.Phe62Ile)
c.-98-21013T>A (n.-98-21013T>A)
n.4847T>A
n.4888T>A
 ClinVar dbSNP
17g.43071203_43071214delinsAGAGGCTGATTCCA2260773012BRCA1c.4697_4708delinsGAATCAGCCTCT (p.Gly1566=)
c.4700_4711delinsGAATCAGCCTCT (p.Gly1567=)
c.4574_4585delinsGAATCAGCCTCT (p.Gly1525=)
c.4694_4705delinsGAATCAGCCTCT (p.Gly1565=)
c.4622_4633delinsGAATCAGCCTCT (p.Gly1541=)
c.1388_1399delinsGAATCAGCCTCT (p.Gly463=)
c.1250_1261delinsGAATCAGCCTCT (p.Gly417=)
c.3812_3823delinsGAATCAGCCTCT (p.Gly1271=)
c.4577_4588delinsGAATCAGCCTCT (p.Gly1526=)
c.4766_4777delinsGAATCAGCCTCT (p.Gly1589=)
c.4559_4570delinsGAATCAGCCTCT (p.Gly1520=)
c.1262_1273delinsGAATCAGCCTCT (p.Gly421=)
c.1307_1318delinsGAATCAGCCTCT (p.Gly436=)
c.4763_4774delinsGAATCAGCCTCT (p.Gly1588=)
c.1087_1098delinsGAATCAGCCTCT
c.1274_1285delinsGAATCAGCCTCT (p.Gly425=)
c.*4483_*4494delinsGAATCAGCCTCT (n.*4483_*4494delinsGAATCAGCCTCT)
c.1013_1024delinsGAATCAGCCTCT (p.Gly338=)
c.5-7263_5-7252delinsGAATCAGCCTCT (n.5-7263_5-7252delinsGAATCAGCCTCT)
c.173_184delinsGAATCAGCCTCT (p.Gly58=)
c.-98-21024_-98-21013delinsGAATCAGCCTCT (n.-98-21024_-98-21013delinsGAATCAGCCTCT)
n.4836_4847delinsGAATCAGCCTCT
n.4877_4888delinsGAATCAGCCTCT
17g.43071204G>ACA002989BRCA1c.4707C>T (p.Leu1569=)
c.4710C>T (p.Leu1570=)
c.4584C>T (p.Leu1528=)
c.4704C>T (p.Leu1568=)
c.4632C>T (p.Leu1544=)
c.1398C>T (p.Leu466=)
c.1260C>T (p.Leu420=)
c.3822C>T (p.Leu1274=)
c.4587C>T (p.Leu1529=)
c.4776C>T (p.Leu1592=)
c.4569C>T (p.Leu1523=)
c.1272C>T (p.Leu424=)
c.1317C>T (p.Leu439=)
c.4773C>T (p.Leu1591=)
c.1097C>T
c.1284C>T (p.Leu428=)
c.*4493C>T (n.*4493C>T)
c.1023C>T (p.Leu341=)
c.5-7253C>T (n.5-7253C>T)
c.183C>T (p.Leu61=)
c.-98-21014C>T (n.-98-21014C>T)
n.4846C>T
n.4887C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43071204G>CCA500231885BRCA1c.4707C>G (p.Leu1569=)
c.4710C>G (p.Leu1570=)
c.4584C>G (p.Leu1528=)
c.4704C>G (p.Leu1568=)
c.4632C>G (p.Leu1544=)
c.1398C>G (p.Leu466=)
c.1260C>G (p.Leu420=)
c.3822C>G (p.Leu1274=)
c.4587C>G (p.Leu1529=)
c.4776C>G (p.Leu1592=)
c.4569C>G (p.Leu1523=)
c.1272C>G (p.Leu424=)
c.1317C>G (p.Leu439=)
c.4773C>G (p.Leu1591=)
c.1097C>G
c.1284C>G (p.Leu428=)
c.*4493C>G (n.*4493C>G)
c.1023C>G (p.Leu341=)
c.5-7253C>G (n.5-7253C>G)
c.183C>G (p.Leu61=)
c.-98-21014C>G (n.-98-21014C>G)
n.4846C>G
n.4887C>G
 dbSNP
17g.43071204G=CA2260773013BRCA1c.4707C= (p.Leu1569=)
c.4710C= (p.Leu1570=)
c.4584C= (p.Leu1528=)
c.4704C= (p.Leu1568=)
c.4632C= (p.Leu1544=)
c.1398C= (p.Leu466=)
c.1260C= (p.Leu420=)
c.3822C= (p.Leu1274=)
c.4587C= (p.Leu1529=)
c.4776C= (p.Leu1592=)
c.4569C= (p.Leu1523=)
c.1272C= (p.Leu424=)
c.1317C= (p.Leu439=)
c.4773C= (p.Leu1591=)
c.1097C=
c.1284C= (p.Leu428=)
c.*4493C= (n.*4493C=)
c.1023C= (p.Leu341=)
c.5-7253C= (n.5-7253C=)
c.183C= (p.Leu61=)
c.-98-21014C= (n.-98-21014C=)
n.4846C=
n.4887C=
17g.43071204G>TCA500231886BRCA1c.4707C>A (p.Leu1569=)
c.4710C>A (p.Leu1570=)
c.4584C>A (p.Leu1528=)
c.4704C>A (p.Leu1568=)
c.4632C>A (p.Leu1544=)
c.1398C>A (p.Leu466=)
c.1260C>A (p.Leu420=)
c.3822C>A (p.Leu1274=)
c.4587C>A (p.Leu1529=)
c.4776C>A (p.Leu1592=)
c.4569C>A (p.Leu1523=)
c.1272C>A (p.Leu424=)
c.1317C>A (p.Leu439=)
c.4773C>A (p.Leu1591=)
c.1097C>A
c.1284C>A (p.Leu428=)
c.*4493C>A (n.*4493C>A)
c.1023C>A (p.Leu341=)
c.5-7253C>A (n.5-7253C>A)
c.183C>A (p.Leu61=)
c.-98-21014C>A (n.-98-21014C>A)
n.4846C>A
n.4887C>A
 dbSNP
17g.43071204_43071214delinsTCA10589647BRCA1c.4697_4707delinsA (p.Gly1566AspfsTer?)
c.4700_4710delinsA (p.Gly1567AspfsTer?)
c.4574_4584delinsA (p.Gly1525AspfsTer?)
c.4694_4704delinsA (p.Gly1565AspfsTer?)
c.4622_4632delinsA (p.Gly1541AspfsTer?)
c.1388_1398delinsA (p.Gly463AspfsTer?)
c.1250_1260delinsA (p.Gly417AspfsTer?)
c.3812_3822delinsA (p.Gly1271AspfsTer?)
c.4577_4587delinsA (p.Gly1526AspfsTer?)
c.4766_4776delinsA (p.Gly1589AspfsTer?)
c.4559_4569delinsA (p.Gly1520AspfsTer?)
c.1262_1272delinsA (p.Gly421AspfsTer?)
c.1307_1317delinsA (p.Gly436AspfsTer?)
c.4763_4773delinsA (p.Gly1588AspfsTer?)
c.1087_1097delinsA
c.1274_1284delinsA (p.Gly425AspfsTer?)
c.*4483_*4493delinsA (n.*4483_*4493delinsA)
c.1013_1023delinsA (p.Gly338AspfsTer?)
c.5-7263_5-7253delinsA (n.5-7263_5-7253delinsA)
c.173_183delinsA (p.Gly58AspfsTer?)
c.-98-21024_-98-21014delinsA (n.-98-21024_-98-21014delinsA)
n.4836_4846delinsA
n.4877_4887delinsA
 ClinVar dbSNP
17g.43071205A=CA2260773015BRCA1c.4706T= (p.Leu1569=)
c.4709T= (p.Leu1570=)
c.4583T= (p.Leu1528=)
c.4703T= (p.Leu1568=)
c.4631T= (p.Leu1544=)
c.1397T= (p.Leu466=)
c.1259T= (p.Leu420=)
c.3821T= (p.Leu1274=)
c.4586T= (p.Leu1529=)
c.4775T= (p.Leu1592=)
c.4568T= (p.Leu1523=)
c.1271T= (p.Leu424=)
c.1316T= (p.Leu439=)
c.4772T= (p.Leu1591=)
c.1096T=
c.1283T= (p.Leu428=)
c.*4492T= (n.*4492T=)
c.1022T= (p.Leu341=)
c.5-7254T= (n.5-7254T=)
c.182T= (p.Leu61=)
c.-98-21015T= (n.-98-21015T=)
n.4845T=
n.4886T=
17g.43071205A>CCA10592090BRCA1c.4706T>G (p.Leu1569Arg)
c.4709T>G (p.Leu1570Arg)
c.4583T>G (p.Leu1528Arg)
c.4703T>G (p.Leu1568Arg)
c.4631T>G (p.Leu1544Arg)
c.1397T>G (p.Leu466Arg)
c.1259T>G (p.Leu420Arg)
c.3821T>G (p.Leu1274Arg)
c.4586T>G (p.Leu1529Arg)
c.4775T>G (p.Leu1592Arg)
c.4568T>G (p.Leu1523Arg)
c.1271T>G (p.Leu424Arg)
c.1316T>G (p.Leu439Arg)
c.4772T>G (p.Leu1591Arg)
c.1096T>G
c.1283T>G (p.Leu428Arg)
c.*4492T>G (n.*4492T>G)
c.1022T>G (p.Leu341Arg)
c.5-7254T>G (n.5-7254T>G)
c.182T>G (p.Leu61Arg)
c.-98-21015T>G (n.-98-21015T>G)
n.4845T>G
n.4886T>G
17g.43071205A>GCA10592091BRCA1c.4706T>C (p.Leu1569Pro)
c.4709T>C (p.Leu1570Pro)
c.4583T>C (p.Leu1528Pro)
c.4703T>C (p.Leu1568Pro)
c.4631T>C (p.Leu1544Pro)
c.1397T>C (p.Leu466Pro)
c.1259T>C (p.Leu420Pro)
c.3821T>C (p.Leu1274Pro)
c.4586T>C (p.Leu1529Pro)
c.4775T>C (p.Leu1592Pro)
c.4568T>C (p.Leu1523Pro)
c.1271T>C (p.Leu424Pro)
c.1316T>C (p.Leu439Pro)
c.4772T>C (p.Leu1591Pro)
c.1096T>C
c.1283T>C (p.Leu428Pro)
c.*4492T>C (n.*4492T>C)
c.1022T>C (p.Leu341Pro)
c.5-7254T>C (n.5-7254T>C)
c.182T>C (p.Leu61Pro)
c.-98-21015T>C (n.-98-21015T>C)
n.4845T>C
n.4886T>C
 ClinVar dbSNP COSMIC COSMIC
17g.43071205A>TCA10592092BRCA1c.4706T>A (p.Leu1569His)
c.4709T>A (p.Leu1570His)
c.4583T>A (p.Leu1528His)
c.4703T>A (p.Leu1568His)
c.4631T>A (p.Leu1544His)
c.1397T>A (p.Leu466His)
c.1259T>A (p.Leu420His)
c.3821T>A (p.Leu1274His)
c.4586T>A (p.Leu1529His)
c.4775T>A (p.Leu1592His)
c.4568T>A (p.Leu1523His)
c.1271T>A (p.Leu424His)
c.1316T>A (p.Leu439His)
c.4772T>A (p.Leu1591His)
c.1096T>A
c.1283T>A (p.Leu428His)
c.*4492T>A (n.*4492T>A)
c.1022T>A (p.Leu341His)
c.5-7254T>A (n.5-7254T>A)
c.182T>A (p.Leu61His)
c.-98-21015T>A (n.-98-21015T>A)
n.4845T>A
n.4886T>A
 dbSNP
17g.43071205dupCA348034BRCA1c.4706dup (p.Phe1570LeufsTer3)
c.4709dup (p.Phe1571LeufsTer3)
c.4583dup (p.Phe1529LeufsTer3)
c.4703dup (p.Phe1569LeufsTer3)
c.4631dup (p.Phe1545LeufsTer3)
c.1397dup (p.Phe467LeufsTer3)
c.1259dup (p.Phe421LeufsTer3)
c.3821dup (p.Phe1275LeufsTer3)
c.4586dup (p.Phe1530LeufsTer3)
c.4775dup (p.Phe1593LeufsTer3)
c.4568dup (p.Phe1524LeufsTer3)
c.1271dup (p.Phe425LeufsTer3)
c.1316dup (p.Phe440LeufsTer3)
c.4772dup (p.Phe1592LeufsTer3)
c.1096dup
c.1283dup (p.Phe429LeufsTer3)
c.*4492dup (n.*4492dup)
c.1022dup (p.Phe342LeufsTer3)
c.5-7254dup (n.5-7254dup)
c.182dup (p.Phe62LeufsTer3)
c.-98-21015dup (n.-98-21015dup)
n.4845dup
n.4886dup
 ClinVar dbSNP
17g.43071205_43071215delinsAGGCTGATTCCCA2260773014BRCA1c.4696_4706delinsGGAATCAGCCT (p.Gly1566=)
c.4699_4709delinsGGAATCAGCCT (p.Gly1567=)
c.4573_4583delinsGGAATCAGCCT (p.Gly1525=)
c.4693_4703delinsGGAATCAGCCT (p.Gly1565=)
c.4621_4631delinsGGAATCAGCCT (p.Gly1541=)
c.1387_1397delinsGGAATCAGCCT (p.Gly463=)
c.1249_1259delinsGGAATCAGCCT (p.Gly417=)
c.3811_3821delinsGGAATCAGCCT (p.Gly1271=)
c.4576_4586delinsGGAATCAGCCT (p.Gly1526=)
c.4765_4775delinsGGAATCAGCCT (p.Gly1589=)
c.4558_4568delinsGGAATCAGCCT (p.Gly1520=)
c.1261_1271delinsGGAATCAGCCT (p.Gly421=)
c.1306_1316delinsGGAATCAGCCT (p.Gly436=)
c.4762_4772delinsGGAATCAGCCT (p.Gly1588=)
c.1086_1096delinsGGAATCAGCCT
c.1273_1283delinsGGAATCAGCCT (p.Gly425=)
c.*4482_*4492delinsGGAATCAGCCT (n.*4482_*4492delinsGGAATCAGCCT)
c.1012_1022delinsGGAATCAGCCT (p.Gly338=)
c.5-7264_5-7254delinsGGAATCAGCCT (n.5-7264_5-7254delinsGGAATCAGCCT)
c.172_182delinsGGAATCAGCCT (p.Gly58=)
c.-98-21025_-98-21015delinsGGAATCAGCCT (n.-98-21025_-98-21015delinsGGAATCAGCCT)
n.4835_4845delinsGGAATCAGCCT
n.4876_4886delinsGGAATCAGCCT
17g.43071206G>ACA052791BRCA1c.4705C>T (p.Leu1569Phe)
c.4708C>T (p.Leu1570Phe)
c.4582C>T (p.Leu1528Phe)
c.4702C>T (p.Leu1568Phe)
c.4630C>T (p.Leu1544Phe)
c.1396C>T (p.Leu466Phe)
c.1258C>T (p.Leu420Phe)
c.3820C>T (p.Leu1274Phe)
c.4585C>T (p.Leu1529Phe)
c.4774C>T (p.Leu1592Phe)
c.4567C>T (p.Leu1523Phe)
c.1270C>T (p.Leu424Phe)
c.1315C>T (p.Leu439Phe)
c.4771C>T (p.Leu1591Phe)
c.1095C>T
c.1282C>T (p.Leu428Phe)
c.*4491C>T (n.*4491C>T)
c.1021C>T (p.Leu341Phe)
c.5-7255C>T (n.5-7255C>T)
c.181C>T (p.Leu61Phe)
c.-98-21016C>T (n.-98-21016C>T)
n.4844C>T
n.4885C>T
 dbSNP ExAC gnomAD v2
17g.43071206G>CCA10592093BRCA1c.4705C>G (p.Leu1569Val)
c.4708C>G (p.Leu1570Val)
c.4582C>G (p.Leu1528Val)
c.4702C>G (p.Leu1568Val)
c.4630C>G (p.Leu1544Val)
c.1396C>G (p.Leu466Val)
c.1258C>G (p.Leu420Val)
c.3820C>G (p.Leu1274Val)
c.4585C>G (p.Leu1529Val)
c.4774C>G (p.Leu1592Val)
c.4567C>G (p.Leu1523Val)
c.1270C>G (p.Leu424Val)
c.1315C>G (p.Leu439Val)
c.4771C>G (p.Leu1591Val)
c.1095C>G
c.1282C>G (p.Leu428Val)
c.*4491C>G (n.*4491C>G)
c.1021C>G (p.Leu341Val)
c.5-7255C>G (n.5-7255C>G)
c.181C>G (p.Leu61Val)
c.-98-21016C>G (n.-98-21016C>G)
n.4844C>G
n.4885C>G
 dbSNP gnomAD v4
17g.43071206G=CA2260773016BRCA1c.4705C= (p.Leu1569=)
c.4708C= (p.Leu1570=)
c.4582C= (p.Leu1528=)
c.4702C= (p.Leu1568=)
c.4630C= (p.Leu1544=)
c.1396C= (p.Leu466=)
c.1258C= (p.Leu420=)
c.3820C= (p.Leu1274=)
c.4585C= (p.Leu1529=)
c.4774C= (p.Leu1592=)
c.4567C= (p.Leu1523=)
c.1270C= (p.Leu424=)
c.1315C= (p.Leu439=)
c.4771C= (p.Leu1591=)
c.1095C=
c.1282C= (p.Leu428=)
c.*4491C= (n.*4491C=)
c.1021C= (p.Leu341=)
c.5-7255C= (n.5-7255C=)
c.181C= (p.Leu61=)
c.-98-21016C= (n.-98-21016C=)
n.4844C=
n.4885C=
17g.43071206G>TCA10592094BRCA1c.4705C>A (p.Leu1569Ile)
c.4708C>A (p.Leu1570Ile)
c.4582C>A (p.Leu1528Ile)
c.4702C>A (p.Leu1568Ile)
c.4630C>A (p.Leu1544Ile)
c.1396C>A (p.Leu466Ile)
c.1258C>A (p.Leu420Ile)
c.3820C>A (p.Leu1274Ile)
c.4585C>A (p.Leu1529Ile)
c.4774C>A (p.Leu1592Ile)
c.4567C>A (p.Leu1523Ile)
c.1270C>A (p.Leu424Ile)
c.1315C>A (p.Leu439Ile)
c.4771C>A (p.Leu1591Ile)
c.1095C>A
c.1282C>A (p.Leu428Ile)
c.*4491C>A (n.*4491C>A)
c.1021C>A (p.Leu341Ile)
c.5-7255C>A (n.5-7255C>A)
c.181C>A (p.Leu61Ile)
c.-98-21016C>A (n.-98-21016C>A)
n.4844C>A
n.4885C>A
 dbSNP
17g.43071206_43071215delCA10589648BRCA1c.4696_4705del (p.Gly1566SerfsTer?)
c.4699_4708del (p.Gly1567SerfsTer?)
c.4573_4582del (p.Gly1525SerfsTer?)
c.4693_4702del (p.Gly1565SerfsTer?)
c.4621_4630del (p.Gly1541SerfsTer?)
c.1387_1396del (p.Gly463SerfsTer?)
c.1249_1258del (p.Gly417SerfsTer?)
c.3811_3820del (p.Gly1271SerfsTer?)
c.4576_4585del (p.Gly1526SerfsTer?)
c.4765_4774del (p.Gly1589SerfsTer?)
c.4558_4567del (p.Gly1520SerfsTer?)
c.1261_1270del (p.Gly421SerfsTer?)
c.1306_1315del (p.Gly436SerfsTer?)
c.4762_4771del (p.Gly1588SerfsTer?)
c.1086_1095del
c.1273_1282del (p.Gly425SerfsTer?)
c.*4482_*4491del (n.*4482_*4491del)
c.1012_1021del (p.Gly338SerfsTer?)
c.5-7264_5-7255del (n.5-7264_5-7255del)
c.172_181del (p.Gly58SerfsTer?)
c.-98-21025_-98-21016del (n.-98-21025_-98-21016del)
n.4835_4844del
n.4876_4885del
 ClinVar dbSNP
17g.43071207G>ACA500231887BRCA1c.4704C>T (p.Ser1568=)
c.4707C>T (p.Ser1569=)
c.4581C>T (p.Ser1527=)
c.4701C>T (p.Ser1567=)
c.4629C>T (p.Ser1543=)
c.1395C>T (p.Ser465=)
c.1257C>T (p.Ser419=)
c.3819C>T (p.Ser1273=)
c.4584C>T (p.Ser1528=)
c.4773C>T (p.Ser1591=)
c.4566C>T (p.Ser1522=)
c.1269C>T (p.Ser423=)
c.1314C>T (p.Ser438=)
c.4770C>T (p.Ser1590=)
c.1094C>T
c.1281C>T (p.Ser427=)
c.*4490C>T (n.*4490C>T)
c.1020C>T (p.Ser340=)
c.5-7256C>T (n.5-7256C>T)
c.180C>T (p.Ser60=)
c.-98-21017C>T (n.-98-21017C>T)
n.4843C>T
n.4884C>T
 ClinVar dbSNP gnomAD v4
17g.43071207G>CCA10592095BRCA1c.4704C>G (p.Ser1568Arg)
c.4707C>G (p.Ser1569Arg)
c.4581C>G (p.Ser1527Arg)
c.4701C>G (p.Ser1567Arg)
c.4629C>G (p.Ser1543Arg)
c.1395C>G (p.Ser465Arg)
c.1257C>G (p.Ser419Arg)
c.3819C>G (p.Ser1273Arg)
c.4584C>G (p.Ser1528Arg)
c.4773C>G (p.Ser1591Arg)
c.4566C>G (p.Ser1522Arg)
c.1269C>G (p.Ser423Arg)
c.1314C>G (p.Ser438Arg)
c.4770C>G (p.Ser1590Arg)
c.1094C>G
c.1281C>G (p.Ser427Arg)
c.*4490C>G (n.*4490C>G)
c.1020C>G (p.Ser340Arg)
c.5-7256C>G (n.5-7256C>G)
c.180C>G (p.Ser60Arg)
c.-98-21017C>G (n.-98-21017C>G)
n.4843C>G
n.4884C>G
 dbSNP
17g.43071207G>TCA10592096BRCA1c.4704C>A (p.Ser1568Arg)
c.4707C>A (p.Ser1569Arg)
c.4581C>A (p.Ser1527Arg)
c.4701C>A (p.Ser1567Arg)
c.4629C>A (p.Ser1543Arg)
c.1395C>A (p.Ser465Arg)
c.1257C>A (p.Ser419Arg)
c.3819C>A (p.Ser1273Arg)
c.4584C>A (p.Ser1528Arg)
c.4773C>A (p.Ser1591Arg)
c.4566C>A (p.Ser1522Arg)
c.1269C>A (p.Ser423Arg)
c.1314C>A (p.Ser438Arg)
c.4770C>A (p.Ser1590Arg)
c.1094C>A
c.1281C>A (p.Ser427Arg)
c.*4490C>A (n.*4490C>A)
c.1020C>A (p.Ser340Arg)
c.5-7256C>A (n.5-7256C>A)
c.180C>A (p.Ser60Arg)
c.-98-21017C>A (n.-98-21017C>A)
n.4843C>A
n.4884C>A
 dbSNP
17g.43071208C>ACA10592097BRCA1c.4703G>T (p.Ser1568Ile)
c.4706G>T (p.Ser1569Ile)
c.4580G>T (p.Ser1527Ile)
c.4700G>T (p.Ser1567Ile)
c.4628G>T (p.Ser1543Ile)
c.1394G>T (p.Ser465Ile)
c.1256G>T (p.Ser419Ile)
c.3818G>T (p.Ser1273Ile)
c.4583G>T (p.Ser1528Ile)
c.4772G>T (p.Ser1591Ile)
c.4565G>T (p.Ser1522Ile)
c.1268G>T (p.Ser423Ile)
c.1313G>T (p.Ser438Ile)
c.4769G>T (p.Ser1590Ile)
c.1093G>T
c.1280G>T (p.Ser427Ile)
c.*4489G>T (n.*4489G>T)
c.1019G>T (p.Ser340Ile)
c.5-7257G>T (n.5-7257G>T)
c.179G>T (p.Ser60Ile)
c.-98-21018G>T (n.-98-21018G>T)
n.4842G>T
n.4883G>T
 dbSNP
17g.43071208C=CA2260773017BRCA1c.4703G= (p.Ser1568=)
c.4706G= (p.Ser1569=)
c.4580G= (p.Ser1527=)
c.4700G= (p.Ser1567=)
c.4628G= (p.Ser1543=)
c.1394G= (p.Ser465=)
c.1256G= (p.Ser419=)
c.3818G= (p.Ser1273=)
c.4583G= (p.Ser1528=)
c.4772G= (p.Ser1591=)
c.4565G= (p.Ser1522=)
c.1268G= (p.Ser423=)
c.1313G= (p.Ser438=)
c.4769G= (p.Ser1590=)
c.1093G=
c.1280G= (p.Ser427=)
c.*4489G= (n.*4489G=)
c.1019G= (p.Ser340=)
c.5-7257G= (n.5-7257G=)
c.179G= (p.Ser60=)
c.-98-21018G= (n.-98-21018G=)
n.4842G=
n.4883G=
17g.43071208C>GCA10592098BRCA1c.4703G>C (p.Ser1568Thr)
c.4706G>C (p.Ser1569Thr)
c.4580G>C (p.Ser1527Thr)
c.4700G>C (p.Ser1567Thr)
c.4628G>C (p.Ser1543Thr)
c.1394G>C (p.Ser465Thr)
c.1256G>C (p.Ser419Thr)
c.3818G>C (p.Ser1273Thr)
c.4583G>C (p.Ser1528Thr)
c.4772G>C (p.Ser1591Thr)
c.4565G>C (p.Ser1522Thr)
c.1268G>C (p.Ser423Thr)
c.1313G>C (p.Ser438Thr)
c.4769G>C (p.Ser1590Thr)
c.1093G>C
c.1280G>C (p.Ser427Thr)
c.*4489G>C (n.*4489G>C)
c.1019G>C (p.Ser340Thr)
c.5-7257G>C (n.5-7257G>C)
c.179G>C (p.Ser60Thr)
c.-98-21018G>C (n.-98-21018G>C)
n.4842G>C
n.4883G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43071208C>TCA10592099BRCA1c.4703G>A (p.Ser1568Asn)
c.4706G>A (p.Ser1569Asn)
c.4580G>A (p.Ser1527Asn)
c.4700G>A (p.Ser1567Asn)
c.4628G>A (p.Ser1543Asn)
c.1394G>A (p.Ser465Asn)
c.1256G>A (p.Ser419Asn)
c.3818G>A (p.Ser1273Asn)
c.4583G>A (p.Ser1528Asn)
c.4772G>A (p.Ser1591Asn)
c.4565G>A (p.Ser1522Asn)
c.1268G>A (p.Ser423Asn)
c.1313G>A (p.Ser438Asn)
c.4769G>A (p.Ser1590Asn)
c.1093G>A
c.1280G>A (p.Ser427Asn)
c.*4489G>A (n.*4489G>A)
c.1019G>A (p.Ser340Asn)
c.5-7257G>A (n.5-7257G>A)
c.179G>A (p.Ser60Asn)
c.-98-21018G>A (n.-98-21018G>A)
n.4842G>A
n.4883G>A
 dbSNP
17g.43071209T>ACA10592100BRCA1c.4702A>T (p.Ser1568Cys)
c.4705A>T (p.Ser1569Cys)
c.4579A>T (p.Ser1527Cys)
c.4699A>T (p.Ser1567Cys)
c.4627A>T (p.Ser1543Cys)
c.1393A>T (p.Ser465Cys)
c.1255A>T (p.Ser419Cys)
c.3817A>T (p.Ser1273Cys)
c.4582A>T (p.Ser1528Cys)
c.4771A>T (p.Ser1591Cys)
c.4564A>T (p.Ser1522Cys)
c.1267A>T (p.Ser423Cys)
c.1312A>T (p.Ser438Cys)
c.4768A>T (p.Ser1590Cys)
c.1092A>T
c.1279A>T (p.Ser427Cys)
c.*4488A>T (n.*4488A>T)
c.1018A>T (p.Ser340Cys)
c.5-7258A>T (n.5-7258A>T)
c.178A>T (p.Ser60Cys)
c.-98-21019A>T (n.-98-21019A>T)
n.4841A>T
n.4882A>T
 gnomAD v4
17g.43071209T>CCA10592101BRCA1c.4702A>G (p.Ser1568Gly)
c.4705A>G (p.Ser1569Gly)
c.4579A>G (p.Ser1527Gly)
c.4699A>G (p.Ser1567Gly)
c.4627A>G (p.Ser1543Gly)
c.1393A>G (p.Ser465Gly)
c.1255A>G (p.Ser419Gly)
c.3817A>G (p.Ser1273Gly)
c.4582A>G (p.Ser1528Gly)
c.4771A>G (p.Ser1591Gly)
c.4564A>G (p.Ser1522Gly)
c.1267A>G (p.Ser423Gly)
c.1312A>G (p.Ser438Gly)
c.4768A>G (p.Ser1590Gly)
c.1092A>G
c.1279A>G (p.Ser427Gly)
c.*4488A>G (n.*4488A>G)
c.1018A>G (p.Ser340Gly)
c.5-7258A>G (n.5-7258A>G)
c.178A>G (p.Ser60Gly)
c.-98-21019A>G (n.-98-21019A>G)
n.4841A>G
n.4882A>G
17g.43071209T>GCA10592102BRCA1c.4702A>C (p.Ser1568Arg)
c.4705A>C (p.Ser1569Arg)
c.4579A>C (p.Ser1527Arg)
c.4699A>C (p.Ser1567Arg)
c.4627A>C (p.Ser1543Arg)
c.1393A>C (p.Ser465Arg)
c.1255A>C (p.Ser419Arg)
c.3817A>C (p.Ser1273Arg)
c.4582A>C (p.Ser1528Arg)
c.4771A>C (p.Ser1591Arg)
c.4564A>C (p.Ser1522Arg)
c.1267A>C (p.Ser423Arg)
c.1312A>C (p.Ser438Arg)
c.4768A>C (p.Ser1590Arg)
c.1092A>C
c.1279A>C (p.Ser427Arg)
c.*4488A>C (n.*4488A>C)
c.1018A>C (p.Ser340Arg)
c.5-7258A>C (n.5-7258A>C)
c.178A>C (p.Ser60Arg)
c.-98-21019A>C (n.-98-21019A>C)
n.4841A>C
n.4882A>C
17g.43071209T=CA2260773018BRCA1c.4702A= (p.Ser1568=)
c.4705A= (p.Ser1569=)
c.4579A= (p.Ser1527=)
c.4699A= (p.Ser1567=)
c.4627A= (p.Ser1543=)
c.1393A= (p.Ser465=)
c.1255A= (p.Ser419=)
c.3817A= (p.Ser1273=)
c.4582A= (p.Ser1528=)
c.4771A= (p.Ser1591=)
c.4564A= (p.Ser1522=)
c.1267A= (p.Ser423=)
c.1312A= (p.Ser438=)
c.4768A= (p.Ser1590=)
c.1092A=
c.1279A= (p.Ser427=)
c.*4488A= (n.*4488A=)
c.1018A= (p.Ser340=)
c.5-7258A= (n.5-7258A=)
c.178A= (p.Ser60=)
c.-98-21019A= (n.-98-21019A=)
n.4841A=
n.4882A=
17g.43071210G>ACA10575942BRCA1c.4701C>T (p.Ile1567=)
c.4704C>T (p.Ile1568=)
c.4578C>T (p.Ile1526=)
c.4698C>T (p.Ile1566=)
c.4626C>T (p.Ile1542=)
c.1392C>T (p.Ile464=)
c.1254C>T (p.Ile418=)
c.3816C>T (p.Ile1272=)
c.4581C>T (p.Ile1527=)
c.4770C>T (p.Ile1590=)
c.4563C>T (p.Ile1521=)
c.1266C>T (p.Ile422=)
c.1311C>T (p.Ile437=)
c.4767C>T (p.Ile1589=)
c.1091C>T
c.1278C>T (p.Ile426=)
c.*4487C>T (n.*4487C>T)
c.1017C>T (p.Ile339=)
c.5-7259C>T (n.5-7259C>T)
c.177C>T (p.Ile59=)
c.-98-21020C>T (n.-98-21020C>T)
n.4840C>T
n.4881C>T
 ClinVar dbSNP
17g.43071210G>CCA10592103BRCA1c.4701C>G (p.Ile1567Met)
c.4704C>G (p.Ile1568Met)
c.4578C>G (p.Ile1526Met)
c.4698C>G (p.Ile1566Met)
c.4626C>G (p.Ile1542Met)
c.1392C>G (p.Ile464Met)
c.1254C>G (p.Ile418Met)
c.3816C>G (p.Ile1272Met)
c.4581C>G (p.Ile1527Met)
c.4770C>G (p.Ile1590Met)
c.4563C>G (p.Ile1521Met)
c.1266C>G (p.Ile422Met)
c.1311C>G (p.Ile437Met)
c.4767C>G (p.Ile1589Met)
c.1091C>G
c.1278C>G (p.Ile426Met)
c.*4487C>G (n.*4487C>G)
c.1017C>G (p.Ile339Met)
c.5-7259C>G (n.5-7259C>G)
c.177C>G (p.Ile59Met)
c.-98-21020C>G (n.-98-21020C>G)
n.4840C>G
n.4881C>G
 dbSNP
17g.43071210G=CA2260773019BRCA1c.4701C= (p.Ile1567=)
c.4704C= (p.Ile1568=)
c.4578C= (p.Ile1526=)
c.4698C= (p.Ile1566=)
c.4626C= (p.Ile1542=)
c.1392C= (p.Ile464=)
c.1254C= (p.Ile418=)
c.3816C= (p.Ile1272=)
c.4581C= (p.Ile1527=)
c.4770C= (p.Ile1590=)
c.4563C= (p.Ile1521=)
c.1266C= (p.Ile422=)
c.1311C= (p.Ile437=)
c.4767C= (p.Ile1589=)
c.1091C=
c.1278C= (p.Ile426=)
c.*4487C= (n.*4487C=)
c.1017C= (p.Ile339=)
c.5-7259C= (n.5-7259C=)
c.177C= (p.Ile59=)
c.-98-21020C= (n.-98-21020C=)
n.4840C=
n.4881C=
17g.43071210G>TCA500231888BRCA1c.4701C>A (p.Ile1567=)
c.4704C>A (p.Ile1568=)
c.4578C>A (p.Ile1526=)
c.4698C>A (p.Ile1566=)
c.4626C>A (p.Ile1542=)
c.1392C>A (p.Ile464=)
c.1254C>A (p.Ile418=)
c.3816C>A (p.Ile1272=)
c.4581C>A (p.Ile1527=)
c.4770C>A (p.Ile1590=)
c.4563C>A (p.Ile1521=)
c.1266C>A (p.Ile422=)
c.1311C>A (p.Ile437=)
c.4767C>A (p.Ile1589=)
c.1091C>A
c.1278C>A (p.Ile426=)
c.*4487C>A (n.*4487C>A)
c.1017C>A (p.Ile339=)
c.5-7259C>A (n.5-7259C>A)
c.177C>A (p.Ile59=)
c.-98-21020C>A (n.-98-21020C>A)
n.4840C>A
n.4881C>A
17g.43071218_43071224dupCA10585937BRCA1c.4695_4701dup (p.Ser1568TrpfsTer7)
c.4698_4704dup (p.Ser1569TrpfsTer7)
c.4572_4578dup (p.Ser1527TrpfsTer7)
c.4692_4698dup (p.Ser1567TrpfsTer7)
c.4620_4626dup (p.Ser1543TrpfsTer7)
c.1386_1392dup (p.Ser465TrpfsTer7)
c.1248_1254dup (p.Ser419TrpfsTer7)
c.3810_3816dup (p.Ser1273TrpfsTer7)
c.4575_4581dup (p.Ser1528TrpfsTer7)
c.4764_4770dup (p.Ser1591TrpfsTer7)
c.4557_4563dup (p.Ser1522TrpfsTer7)
c.1260_1266dup (p.Ser423TrpfsTer7)
c.1305_1311dup (p.Ser438TrpfsTer7)
c.4761_4767dup (p.Ser1590TrpfsTer7)
c.1085_1091dup
c.1272_1278dup (p.Ser427TrpfsTer7)
c.*4481_*4487dup (n.*4481_*4487dup)
c.1011_1017dup (p.Ser340TrpfsTer7)
c.5-7265_5-7259dup (n.5-7265_5-7259dup)
c.171_177dup (p.Ser60TrpfsTer7)
c.-98-21026_-98-21020dup (n.-98-21026_-98-21020dup)
n.4834_4840dup
n.4875_4881dup
 ClinVar dbSNP
17g.43071211A>CCA10592104BRCA1c.4700T>G (p.Ile1567Ser)
c.4703T>G (p.Ile1568Ser)
c.4577T>G (p.Ile1526Ser)
c.4697T>G (p.Ile1566Ser)
c.4625T>G (p.Ile1542Ser)
c.1391T>G (p.Ile464Ser)
c.1253T>G (p.Ile418Ser)
c.3815T>G (p.Ile1272Ser)
c.4580T>G (p.Ile1527Ser)
c.4769T>G (p.Ile1590Ser)
c.4562T>G (p.Ile1521Ser)
c.1265T>G (p.Ile422Ser)
c.1310T>G (p.Ile437Ser)
c.4766T>G (p.Ile1589Ser)
c.1090T>G
c.1277T>G (p.Ile426Ser)
c.*4486T>G (n.*4486T>G)
c.1016T>G (p.Ile339Ser)
c.5-7260T>G (n.5-7260T>G)
c.176T>G (p.Ile59Ser)
c.-98-21021T>G (n.-98-21021T>G)
n.4839T>G
n.4880T>G
 dbSNP COSMIC
17g.43071211A>GCA10592105BRCA1c.4700T>C (p.Ile1567Thr)
c.4703T>C (p.Ile1568Thr)
c.4577T>C (p.Ile1526Thr)
c.4697T>C (p.Ile1566Thr)
c.4625T>C (p.Ile1542Thr)
c.1391T>C (p.Ile464Thr)
c.1253T>C (p.Ile418Thr)
c.3815T>C (p.Ile1272Thr)
c.4580T>C (p.Ile1527Thr)
c.4769T>C (p.Ile1590Thr)
c.4562T>C (p.Ile1521Thr)
c.1265T>C (p.Ile422Thr)
c.1310T>C (p.Ile437Thr)
c.4766T>C (p.Ile1589Thr)
c.1090T>C
c.1277T>C (p.Ile426Thr)
c.*4486T>C (n.*4486T>C)
c.1016T>C (p.Ile339Thr)
c.5-7260T>C (n.5-7260T>C)
c.176T>C (p.Ile59Thr)
c.-98-21021T>C (n.-98-21021T>C)
n.4839T>C
n.4880T>C
 dbSNP
17g.43071211A>TCA10592106BRCA1c.4700T>A (p.Ile1567Asn)
c.4703T>A (p.Ile1568Asn)
c.4577T>A (p.Ile1526Asn)
c.4697T>A (p.Ile1566Asn)
c.4625T>A (p.Ile1542Asn)
c.1391T>A (p.Ile464Asn)
c.1253T>A (p.Ile418Asn)
c.3815T>A (p.Ile1272Asn)
c.4580T>A (p.Ile1527Asn)
c.4769T>A (p.Ile1590Asn)
c.4562T>A (p.Ile1521Asn)
c.1265T>A (p.Ile422Asn)
c.1310T>A (p.Ile437Asn)
c.4766T>A (p.Ile1589Asn)
c.1090T>A
c.1277T>A (p.Ile426Asn)
c.*4486T>A (n.*4486T>A)
c.1016T>A (p.Ile339Asn)
c.5-7260T>A (n.5-7260T>A)
c.176T>A (p.Ile59Asn)
c.-98-21021T>A (n.-98-21021T>A)
n.4839T>A
n.4880T>A
 dbSNP
17g.43071212T>ACA10592107BRCA1c.4699A>T (p.Ile1567Phe)
c.4702A>T (p.Ile1568Phe)
c.4576A>T (p.Ile1526Phe)
c.4696A>T (p.Ile1566Phe)
c.4624A>T (p.Ile1542Phe)
c.1390A>T (p.Ile464Phe)
c.1252A>T (p.Ile418Phe)
c.3814A>T (p.Ile1272Phe)
c.4579A>T (p.Ile1527Phe)
c.4768A>T (p.Ile1590Phe)
c.4561A>T (p.Ile1521Phe)
c.1264A>T (p.Ile422Phe)
c.1309A>T (p.Ile437Phe)
c.4765A>T (p.Ile1589Phe)
c.1089A>T
c.1276A>T (p.Ile426Phe)
c.*4485A>T (n.*4485A>T)
c.1015A>T (p.Ile339Phe)
c.5-7261A>T (n.5-7261A>T)
c.175A>T (p.Ile59Phe)
c.-98-21022A>T (n.-98-21022A>T)
n.4838A>T
n.4879A>T
17g.43071212T>CCA002984BRCA1c.4699A>G (p.Ile1567Val)
c.4702A>G (p.Ile1568Val)
c.4576A>G (p.Ile1526Val)
c.4696A>G (p.Ile1566Val)
c.4624A>G (p.Ile1542Val)
c.1390A>G (p.Ile464Val)
c.1252A>G (p.Ile418Val)
c.3814A>G (p.Ile1272Val)
c.4579A>G (p.Ile1527Val)
c.4768A>G (p.Ile1590Val)
c.4561A>G (p.Ile1521Val)
c.1264A>G (p.Ile422Val)
c.1309A>G (p.Ile437Val)
c.4765A>G (p.Ile1589Val)
c.1089A>G
c.1276A>G (p.Ile426Val)
c.*4485A>G (n.*4485A>G)
c.1015A>G (p.Ile339Val)
c.5-7261A>G (n.5-7261A>G)
c.175A>G (p.Ile59Val)
c.-98-21022A>G (n.-98-21022A>G)
n.4838A>G
n.4879A>G
 ClinVar dbSNP gnomAD v4
17g.43071212T>GCA10592108BRCA1c.4699A>C (p.Ile1567Leu)
c.4702A>C (p.Ile1568Leu)
c.4576A>C (p.Ile1526Leu)
c.4696A>C (p.Ile1566Leu)
c.4624A>C (p.Ile1542Leu)
c.1390A>C (p.Ile464Leu)
c.1252A>C (p.Ile418Leu)
c.3814A>C (p.Ile1272Leu)
c.4579A>C (p.Ile1527Leu)
c.4768A>C (p.Ile1590Leu)
c.4561A>C (p.Ile1521Leu)
c.1264A>C (p.Ile422Leu)
c.1309A>C (p.Ile437Leu)
c.4765A>C (p.Ile1589Leu)
c.1089A>C
c.1276A>C (p.Ile426Leu)
c.*4485A>C (n.*4485A>C)
c.1015A>C (p.Ile339Leu)
c.5-7261A>C (n.5-7261A>C)
c.175A>C (p.Ile59Leu)
c.-98-21022A>C (n.-98-21022A>C)
n.4838A>C
n.4879A>C
17g.43071212T=CA2260773020BRCA1c.4699A= (p.Ile1567=)
c.4702A= (p.Ile1568=)
c.4576A= (p.Ile1526=)
c.4696A= (p.Ile1566=)
c.4624A= (p.Ile1542=)
c.1390A= (p.Ile464=)
c.1252A= (p.Ile418=)
c.3814A= (p.Ile1272=)
c.4579A= (p.Ile1527=)
c.4768A= (p.Ile1590=)
c.4561A= (p.Ile1521=)
c.1264A= (p.Ile422=)
c.1309A= (p.Ile437=)
c.4765A= (p.Ile1589=)
c.1089A=
c.1276A= (p.Ile426=)
c.*4485A= (n.*4485A=)
c.1015A= (p.Ile339=)
c.5-7261A= (n.5-7261A=)
c.175A= (p.Ile59=)
c.-98-21022A= (n.-98-21022A=)
n.4838A=
n.4879A=
17g.43071213T>ACA500231889BRCA1c.4698A>T (p.Gly1566=)
c.4701A>T (p.Gly1567=)
c.4575A>T (p.Gly1525=)
c.4695A>T (p.Gly1565=)
c.4623A>T (p.Gly1541=)
c.1389A>T (p.Gly463=)
c.1251A>T (p.Gly417=)
c.3813A>T (p.Gly1271=)
c.4578A>T (p.Gly1526=)
c.4767A>T (p.Gly1589=)
c.4560A>T (p.Gly1520=)
c.1263A>T (p.Gly421=)
c.1308A>T (p.Gly436=)
c.4764A>T (p.Gly1588=)
c.1088A>T
c.1275A>T (p.Gly425=)
c.*4484A>T (n.*4484A>T)
c.1014A>T (p.Gly338=)
c.5-7262A>T (n.5-7262A>T)
c.174A>T (p.Gly58=)
c.-98-21023A>T (n.-98-21023A>T)
n.4837A>T
n.4878A>T
17g.43071213T>CCA500231890BRCA1c.4698A>G (p.Gly1566=)
c.4701A>G (p.Gly1567=)
c.4575A>G (p.Gly1525=)
c.4695A>G (p.Gly1565=)
c.4623A>G (p.Gly1541=)
c.1389A>G (p.Gly463=)
c.1251A>G (p.Gly417=)
c.3813A>G (p.Gly1271=)
c.4578A>G (p.Gly1526=)
c.4767A>G (p.Gly1589=)
c.4560A>G (p.Gly1520=)
c.1263A>G (p.Gly421=)
c.1308A>G (p.Gly436=)
c.4764A>G (p.Gly1588=)
c.1088A>G
c.1275A>G (p.Gly425=)
c.*4484A>G (n.*4484A>G)
c.1014A>G (p.Gly338=)
c.5-7262A>G (n.5-7262A>G)
c.174A>G (p.Gly58=)
c.-98-21023A>G (n.-98-21023A>G)
n.4837A>G
n.4878A>G
17g.43071213T>GCA500231891BRCA1c.4698A>C (p.Gly1566=)
c.4701A>C (p.Gly1567=)
c.4575A>C (p.Gly1525=)
c.4695A>C (p.Gly1565=)
c.4623A>C (p.Gly1541=)
c.1389A>C (p.Gly463=)
c.1251A>C (p.Gly417=)
c.3813A>C (p.Gly1271=)
c.4578A>C (p.Gly1526=)
c.4767A>C (p.Gly1589=)
c.4560A>C (p.Gly1520=)
c.1263A>C (p.Gly421=)
c.1308A>C (p.Gly436=)
c.4764A>C (p.Gly1588=)
c.1088A>C
c.1275A>C (p.Gly425=)
c.*4484A>C (n.*4484A>C)
c.1014A>C (p.Gly338=)
c.5-7262A>C (n.5-7262A>C)
c.174A>C (p.Gly58=)
c.-98-21023A>C (n.-98-21023A>C)
n.4837A>C
n.4878A>C
17g.43071213T=CA2260773021BRCA1c.4698A= (p.Gly1566=)
c.4701A= (p.Gly1567=)
c.4575A= (p.Gly1525=)
c.4695A= (p.Gly1565=)
c.4623A= (p.Gly1541=)
c.1389A= (p.Gly463=)
c.1251A= (p.Gly417=)
c.3813A= (p.Gly1271=)
c.4578A= (p.Gly1526=)
c.4767A= (p.Gly1589=)
c.4560A= (p.Gly1520=)
c.1263A= (p.Gly421=)
c.1308A= (p.Gly436=)
c.4764A= (p.Gly1588=)
c.1088A=
c.1275A= (p.Gly425=)
c.*4484A= (n.*4484A=)
c.1014A= (p.Gly338=)
c.5-7262A= (n.5-7262A=)
c.174A= (p.Gly58=)
c.-98-21023A= (n.-98-21023A=)
n.4837A=
n.4878A=
17g.43071214C>ACA10592109BRCA1c.4697G>T (p.Gly1566Val)
c.4700G>T (p.Gly1567Val)
c.4574G>T (p.Gly1525Val)
c.4694G>T (p.Gly1565Val)
c.4622G>T (p.Gly1541Val)
c.1388G>T (p.Gly463Val)
c.1250G>T (p.Gly417Val)
c.3812G>T (p.Gly1271Val)
c.4577G>T (p.Gly1526Val)
c.4766G>T (p.Gly1589Val)
c.4559G>T (p.Gly1520Val)
c.1262G>T (p.Gly421Val)
c.1307G>T (p.Gly436Val)
c.4763G>T (p.Gly1588Val)
c.1087G>T
c.1274G>T (p.Gly425Val)
c.*4483G>T (n.*4483G>T)
c.1013G>T (p.Gly338Val)
c.5-7263G>T (n.5-7263G>T)
c.173G>T (p.Gly58Val)
c.-98-21024G>T (n.-98-21024G>T)
n.4836G>T
n.4877G>T
 ClinVar dbSNP
17g.43071214C=CA2260773022BRCA1c.4697G= (p.Gly1566=)
c.4700G= (p.Gly1567=)
c.4574G= (p.Gly1525=)
c.4694G= (p.Gly1565=)
c.4622G= (p.Gly1541=)
c.1388G= (p.Gly463=)
c.1250G= (p.Gly417=)
c.3812G= (p.Gly1271=)
c.4577G= (p.Gly1526=)
c.4766G= (p.Gly1589=)
c.4559G= (p.Gly1520=)
c.1262G= (p.Gly421=)
c.1307G= (p.Gly436=)
c.4763G= (p.Gly1588=)
c.1087G=
c.1274G= (p.Gly425=)
c.*4483G= (n.*4483G=)
c.1013G= (p.Gly338=)
c.5-7263G= (n.5-7263G=)
c.173G= (p.Gly58=)
c.-98-21024G= (n.-98-21024G=)
n.4836G=
n.4877G=
17g.43071214C>GCA10592110BRCA1c.4697G>C (p.Gly1566Ala)
c.4700G>C (p.Gly1567Ala)
c.4574G>C (p.Gly1525Ala)
c.4694G>C (p.Gly1565Ala)
c.4622G>C (p.Gly1541Ala)
c.1388G>C (p.Gly463Ala)
c.1250G>C (p.Gly417Ala)
c.3812G>C (p.Gly1271Ala)
c.4577G>C (p.Gly1526Ala)
c.4766G>C (p.Gly1589Ala)
c.4559G>C (p.Gly1520Ala)
c.1262G>C (p.Gly421Ala)
c.1307G>C (p.Gly436Ala)
c.4763G>C (p.Gly1588Ala)
c.1087G>C
c.1274G>C (p.Gly425Ala)
c.*4483G>C (n.*4483G>C)
c.1013G>C (p.Gly338Ala)
c.5-7263G>C (n.5-7263G>C)
c.173G>C (p.Gly58Ala)
c.-98-21024G>C (n.-98-21024G>C)
n.4836G>C
n.4877G>C
 ClinVar dbSNP
17g.43071214C>TCA10592111BRCA1c.4697G>A (p.Gly1566Glu)
c.4700G>A (p.Gly1567Glu)
c.4574G>A (p.Gly1525Glu)
c.4694G>A (p.Gly1565Glu)
c.4622G>A (p.Gly1541Glu)
c.1388G>A (p.Gly463Glu)
c.1250G>A (p.Gly417Glu)
c.3812G>A (p.Gly1271Glu)
c.4577G>A (p.Gly1526Glu)
c.4766G>A (p.Gly1589Glu)
c.4559G>A (p.Gly1520Glu)
c.1262G>A (p.Gly421Glu)
c.1307G>A (p.Gly436Glu)
c.4763G>A (p.Gly1588Glu)
c.1087G>A
c.1274G>A (p.Gly425Glu)
c.*4483G>A (n.*4483G>A)
c.1013G>A (p.Gly338Glu)
c.5-7263G>A (n.5-7263G>A)
c.173G>A (p.Gly58Glu)
c.-98-21024G>A (n.-98-21024G>A)
n.4836G>A
n.4877G>A
 ClinVar dbSNP
17g.43071214_43071215dupCA915950116BRCA1c.4696_4697dup (p.Ile1567GlufsTer?)
c.4699_4700dup (p.Ile1568GlufsTer?)
c.4573_4574dup (p.Ile1526GlufsTer?)
c.4693_4694dup (p.Ile1566GlufsTer?)
c.4621_4622dup (p.Ile1542GlufsTer?)
c.1387_1388dup (p.Ile464GlufsTer?)
c.1249_1250dup (p.Ile418GlufsTer?)
c.3811_3812dup (p.Ile1272GlufsTer?)
c.4576_4577dup (p.Ile1527GlufsTer?)
c.4765_4766dup (p.Ile1590GlufsTer?)
c.4558_4559dup (p.Ile1521GlufsTer?)
c.1261_1262dup (p.Ile422GlufsTer?)
c.1306_1307dup (p.Ile437GlufsTer?)
c.4762_4763dup (p.Ile1589GlufsTer?)
c.1086_1087dup
c.1273_1274dup (p.Ile426GlufsTer?)
c.*4482_*4483dup (n.*4482_*4483dup)
c.1012_1013dup (p.Ile339GlufsTer?)
c.5-7264_5-7263dup (n.5-7264_5-7263dup)
c.172_173dup (p.Ile59GlufsTer?)
c.-98-21025_-98-21024dup (n.-98-21025_-98-21024dup)
n.4835_4836dup
n.4876_4877dup
 ClinVar dbSNP
17g.43071215C>ACA10592112BRCA1c.4696G>T (p.Gly1566Ter)
c.4699G>T (p.Gly1567Ter)
c.4573G>T (p.Gly1525Ter)
c.4693G>T (p.Gly1565Ter)
c.4621G>T (p.Gly1541Ter)
c.1387G>T (p.Gly463Ter)
c.1249G>T (p.Gly417Ter)
c.3811G>T (p.Gly1271Ter)
c.4576G>T (p.Gly1526Ter)
c.4765G>T (p.Gly1589Ter)
c.4558G>T (p.Gly1520Ter)
c.1261G>T (p.Gly421Ter)
c.1306G>T (p.Gly436Ter)
c.4762G>T (p.Gly1588Ter)
c.1086G>T
c.1273G>T (p.Gly425Ter)
c.*4482G>T (n.*4482G>T)
c.1012G>T (p.Gly338Ter)
c.5-7264G>T (n.5-7264G>T)
c.172G>T (p.Gly58Ter)
c.-98-21025G>T (n.-98-21025G>T)
n.4835G>T
n.4876G>T
 ClinVar dbSNP
17g.43071215C=CA2260773023BRCA1c.4696G= (p.Gly1566=)
c.4699G= (p.Gly1567=)
c.4573G= (p.Gly1525=)
c.4693G= (p.Gly1565=)
c.4621G= (p.Gly1541=)
c.1387G= (p.Gly463=)
c.1249G= (p.Gly417=)
c.3811G= (p.Gly1271=)
c.4576G= (p.Gly1526=)
c.4765G= (p.Gly1589=)
c.4558G= (p.Gly1520=)
c.1261G= (p.Gly421=)
c.1306G= (p.Gly436=)
c.4762G= (p.Gly1588=)
c.1086G=
c.1273G= (p.Gly425=)
c.*4482G= (n.*4482G=)
c.1012G= (p.Gly338=)
c.5-7264G= (n.5-7264G=)
c.172G= (p.Gly58=)
c.-98-21025G= (n.-98-21025G=)
n.4835G=
n.4876G=
17g.43071215C>GCA10592113BRCA1c.4696G>C (p.Gly1566Arg)
c.4699G>C (p.Gly1567Arg)
c.4573G>C (p.Gly1525Arg)
c.4693G>C (p.Gly1565Arg)
c.4621G>C (p.Gly1541Arg)
c.1387G>C (p.Gly463Arg)
c.1249G>C (p.Gly417Arg)
c.3811G>C (p.Gly1271Arg)
c.4576G>C (p.Gly1526Arg)
c.4765G>C (p.Gly1589Arg)
c.4558G>C (p.Gly1520Arg)
c.1261G>C (p.Gly421Arg)
c.1306G>C (p.Gly436Arg)
c.4762G>C (p.Gly1588Arg)
c.1086G>C
c.1273G>C (p.Gly425Arg)
c.*4482G>C (n.*4482G>C)
c.1012G>C (p.Gly338Arg)
c.5-7264G>C (n.5-7264G>C)
c.172G>C (p.Gly58Arg)
c.-98-21025G>C (n.-98-21025G>C)
n.4835G>C
n.4876G>C
 dbSNP
17g.43071215C>TCA10592114BRCA1c.4696G>A (p.Gly1566Arg)
c.4699G>A (p.Gly1567Arg)
c.4573G>A (p.Gly1525Arg)
c.4693G>A (p.Gly1565Arg)
c.4621G>A (p.Gly1541Arg)
c.1387G>A (p.Gly463Arg)
c.1249G>A (p.Gly417Arg)
c.3811G>A (p.Gly1271Arg)
c.4576G>A (p.Gly1526Arg)
c.4765G>A (p.Gly1589Arg)
c.4558G>A (p.Gly1520Arg)
c.1261G>A (p.Gly421Arg)
c.1306G>A (p.Gly436Arg)
c.4762G>A (p.Gly1588Arg)
c.1086G>A
c.1273G>A (p.Gly425Arg)
c.*4482G>A (n.*4482G>A)
c.1012G>A (p.Gly338Arg)
c.5-7264G>A (n.5-7264G>A)
c.172G>A (p.Gly58Arg)
c.-98-21025G>A (n.-98-21025G>A)
n.4835G>A
n.4876G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43071216A=CA2260773024BRCA1c.4695T= (p.Ser1565=)
c.4698T= (p.Ser1566=)
c.4572T= (p.Ser1524=)
c.4692T= (p.Ser1564=)
c.4620T= (p.Ser1540=)
c.1386T= (p.Ser462=)
c.1248T= (p.Ser416=)
c.3810T= (p.Ser1270=)
c.4575T= (p.Ser1525=)
c.4764T= (p.Ser1588=)
c.4557T= (p.Ser1519=)
c.1260T= (p.Ser420=)
c.1305T= (p.Ser435=)
c.4761T= (p.Ser1587=)
c.1085T=
c.1272T= (p.Ser424=)
c.*4481T= (n.*4481T=)
c.1011T= (p.Ser337=)
c.5-7265T= (n.5-7265T=)
c.171T= (p.Ser57=)
c.-98-21026T= (n.-98-21026T=)
n.4834T=
n.4875T=
17g.43071216A>CCA500231892BRCA1c.4695T>G (p.Ser1565=)
c.4698T>G (p.Ser1566=)
c.4572T>G (p.Ser1524=)
c.4692T>G (p.Ser1564=)
c.4620T>G (p.Ser1540=)
c.1386T>G (p.Ser462=)
c.1248T>G (p.Ser416=)
c.3810T>G (p.Ser1270=)
c.4575T>G (p.Ser1525=)
c.4764T>G (p.Ser1588=)
c.4557T>G (p.Ser1519=)
c.1260T>G (p.Ser420=)
c.1305T>G (p.Ser435=)
c.4761T>G (p.Ser1587=)
c.1085T>G
c.1272T>G (p.Ser424=)
c.*4481T>G (n.*4481T>G)
c.1011T>G (p.Ser337=)
c.5-7265T>G (n.5-7265T>G)
c.171T>G (p.Ser57=)
c.-98-21026T>G (n.-98-21026T>G)
n.4834T>G
n.4875T>G
 ClinVar dbSNP
17g.43071216A>GCA500231893BRCA1c.4695T>C (p.Ser1565=)
c.4698T>C (p.Ser1566=)
c.4572T>C (p.Ser1524=)
c.4692T>C (p.Ser1564=)
c.4620T>C (p.Ser1540=)
c.1386T>C (p.Ser462=)
c.1248T>C (p.Ser416=)
c.3810T>C (p.Ser1270=)
c.4575T>C (p.Ser1525=)
c.4764T>C (p.Ser1588=)
c.4557T>C (p.Ser1519=)
c.1260T>C (p.Ser420=)
c.1305T>C (p.Ser435=)
c.4761T>C (p.Ser1587=)
c.1085T>C
c.1272T>C (p.Ser424=)
c.*4481T>C (n.*4481T>C)
c.1011T>C (p.Ser337=)
c.5-7265T>C (n.5-7265T>C)
c.171T>C (p.Ser57=)
c.-98-21026T>C (n.-98-21026T>C)
n.4834T>C
n.4875T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43071216A>TCA500231894BRCA1c.4695T>A (p.Ser1565=)
c.4698T>A (p.Ser1566=)
c.4572T>A (p.Ser1524=)
c.4692T>A (p.Ser1564=)
c.4620T>A (p.Ser1540=)
c.1386T>A (p.Ser462=)
c.1248T>A (p.Ser416=)
c.3810T>A (p.Ser1270=)
c.4575T>A (p.Ser1525=)
c.4764T>A (p.Ser1588=)
c.4557T>A (p.Ser1519=)
c.1260T>A (p.Ser420=)
c.1305T>A (p.Ser435=)
c.4761T>A (p.Ser1587=)
c.1085T>A
c.1272T>A (p.Ser424=)
c.*4481T>A (n.*4481T>A)
c.1011T>A (p.Ser337=)
c.5-7265T>A (n.5-7265T>A)
c.171T>A (p.Ser57=)
c.-98-21026T>A (n.-98-21026T>A)
n.4834T>A
n.4875T>A
17g.43071216_43071217insTCA658825009BRCA1c.4694_4695insA (p.Gly1566TrpfsTer7)
c.4697_4698insA (p.Gly1567TrpfsTer7)
c.4571_4572insA (p.Gly1525TrpfsTer7)
c.4691_4692insA (p.Gly1565TrpfsTer7)
c.4619_4620insA (p.Gly1541TrpfsTer7)
c.1385_1386insA (p.Gly463TrpfsTer7)
c.1247_1248insA (p.Gly417TrpfsTer7)
c.3809_3810insA (p.Gly1271TrpfsTer7)
c.4574_4575insA (p.Gly1526TrpfsTer7)
c.4763_4764insA (p.Gly1589TrpfsTer7)
c.4556_4557insA (p.Gly1520TrpfsTer7)
c.1259_1260insA (p.Gly421TrpfsTer7)
c.1304_1305insA (p.Gly436TrpfsTer7)
c.4760_4761insA (p.Gly1588TrpfsTer7)
c.1084_1085insA
c.1271_1272insA (p.Gly425TrpfsTer7)
c.*4480_*4481insA (n.*4480_*4481insA)
c.1010_1011insA (p.Gly338TrpfsTer7)
c.5-7266_5-7265insA (n.5-7266_5-7265insA)
c.170_171insA (p.Gly58TrpfsTer7)
c.-98-21027_-98-21026insA (n.-98-21027_-98-21026insA)
n.4833_4834insA
n.4874_4875insA
 ClinVar dbSNP
17g.43071217G>ACA10592115BRCA1c.4694C>T (p.Ser1565Phe)
c.4697C>T (p.Ser1566Phe)
c.4571C>T (p.Ser1524Phe)
c.4691C>T (p.Ser1564Phe)
c.4619C>T (p.Ser1540Phe)
c.1385C>T (p.Ser462Phe)
c.1247C>T (p.Ser416Phe)
c.3809C>T (p.Ser1270Phe)
c.4574C>T (p.Ser1525Phe)
c.4763C>T (p.Ser1588Phe)
c.4556C>T (p.Ser1519Phe)
c.1259C>T (p.Ser420Phe)
c.1304C>T (p.Ser435Phe)
c.4760C>T (p.Ser1587Phe)
c.1084C>T
c.1271C>T (p.Ser424Phe)
c.*4480C>T (n.*4480C>T)
c.1010C>T (p.Ser337Phe)
c.5-7266C>T (n.5-7266C>T)
c.170C>T (p.Ser57Phe)
c.-98-21027C>T (n.-98-21027C>T)
n.4833C>T
n.4874C>T
 dbSNP
17g.43071217G>CCA10592116BRCA1c.4694C>G (p.Ser1565Cys)
c.4697C>G (p.Ser1566Cys)
c.4571C>G (p.Ser1524Cys)
c.4691C>G (p.Ser1564Cys)
c.4619C>G (p.Ser1540Cys)
c.1385C>G (p.Ser462Cys)
c.1247C>G (p.Ser416Cys)
c.3809C>G (p.Ser1270Cys)
c.4574C>G (p.Ser1525Cys)
c.4763C>G (p.Ser1588Cys)
c.4556C>G (p.Ser1519Cys)
c.1259C>G (p.Ser420Cys)
c.1304C>G (p.Ser435Cys)
c.4760C>G (p.Ser1587Cys)
c.1084C>G
c.1271C>G (p.Ser424Cys)
c.*4480C>G (n.*4480C>G)
c.1010C>G (p.Ser337Cys)
c.5-7266C>G (n.5-7266C>G)
c.170C>G (p.Ser57Cys)
c.-98-21027C>G (n.-98-21027C>G)
n.4833C>G
n.4874C>G
 ClinVar dbSNP
17g.43071217G=CA2260773025BRCA1c.4694C= (p.Ser1565=)
c.4697C= (p.Ser1566=)
c.4571C= (p.Ser1524=)
c.4691C= (p.Ser1564=)
c.4619C= (p.Ser1540=)
c.1385C= (p.Ser462=)
c.1247C= (p.Ser416=)
c.3809C= (p.Ser1270=)
c.4574C= (p.Ser1525=)
c.4763C= (p.Ser1588=)
c.4556C= (p.Ser1519=)
c.1259C= (p.Ser420=)
c.1304C= (p.Ser435=)
c.4760C= (p.Ser1587=)
c.1084C=
c.1271C= (p.Ser424=)
c.*4480C= (n.*4480C=)
c.1010C= (p.Ser337=)
c.5-7266C= (n.5-7266C=)
c.170C= (p.Ser57=)
c.-98-21027C= (n.-98-21027C=)
n.4833C=
n.4874C=
17g.43071217G>TCA10592117BRCA1c.4694C>A (p.Ser1565Tyr)
c.4697C>A (p.Ser1566Tyr)
c.4571C>A (p.Ser1524Tyr)
c.4691C>A (p.Ser1564Tyr)
c.4619C>A (p.Ser1540Tyr)
c.1385C>A (p.Ser462Tyr)
c.1247C>A (p.Ser416Tyr)
c.3809C>A (p.Ser1270Tyr)
c.4574C>A (p.Ser1525Tyr)
c.4763C>A (p.Ser1588Tyr)
c.4556C>A (p.Ser1519Tyr)
c.1259C>A (p.Ser420Tyr)
c.1304C>A (p.Ser435Tyr)
c.4760C>A (p.Ser1587Tyr)
c.1084C>A
c.1271C>A (p.Ser424Tyr)
c.*4480C>A (n.*4480C>A)
c.1010C>A (p.Ser337Tyr)
c.5-7266C>A (n.5-7266C>A)
c.170C>A (p.Ser57Tyr)
c.-98-21027C>A (n.-98-21027C>A)
n.4833C>A
n.4874C>A
 ClinVar dbSNP gnomAD v4

Number of alleles fetched