Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.43063955_43071241delCA10575957BRCA1c.4674_5072del
c.4677_5075del
c.4551_4949del
c.4671_5069del
c.4599_4997del
c.1365_1763del
c.1227_1625del
c.3789_4187del
c.4554_4952del
c.4743_5141del
c.4536_4934del
c.1239_1637del
c.4740_5138del
c.1064_1462del
c.1251_1649del
c.*4460_*4858del
c.990_1388del
c.5-7286_5del
c.150_548del
c.-98-21047_-98-13761del (n.-98-21047_-98-13761del)
n.4813_5211del
n.4854_5252del
 ClinVar
17g.43066661_43072815delCA913190336BRCA1c.4672+1532_5071+963del
c.4675+1532_5074+963del
c.4549+1532_4948+963del
c.4669+1532_5068+963del
c.4597+1532_4996+963del
c.1363+1532_1762+963del
c.1225+1532_1624+963del
c.3787+1532_4186+963del
c.4552+1532_4951+963del
c.4741+1532_5140+963del
c.4534+1532_4933+963del
c.1237+1532_1636+963del
c.4738+1532_5137+963del
c.1062+1532_1461+963del
c.1249+1532_1648+963del
c.*4458+1532_*4857+963del
c.988+1532_1387+963del
c.5-8848_5-2694del (n.5-8848_5-2694del)
c.148+1532_547+963del
c.-98-22609_-98-16455del (n.-98-22609_-98-16455del)
n.4811+1532_5210+963del
n.4852+1532_5251+963del
 ClinVar
17g.43067611_43071241delCA2581463406BRCA1c.4673_5071del
c.4676_5074del
c.4550_4948del
c.4670_5068del
c.4598_4996del
c.1364_1762del
c.1226_1624del
c.3788_4186del
c.4553_4951del
c.4742_5140del
c.4535_4933del
c.1238_1636del
c.4739_5137del
c.1063_1461del
c.1250_1648del
c.*4459_*4857del
c.989_1387del
c.5-7287_5-3657del (n.5-7287_5-3657del)
c.149_547del
c.-98-21048_-98-17418del (n.-98-21048_-98-17418del)
n.4812_5210del
n.4853_5251del
17g.43070037_43072667delCA10602585BRCA1c.4673-1420_4983+900del
c.4676-1420_4986+900del
c.4550-1420_4860+900del
c.4670-1420_4980+900del
c.4598-1420_4908+900del
c.1364-1420_1674+900del
c.1226-1420_1536+900del
c.3788-1420_4098+900del
c.4553-1420_4863+900del
c.4742-1420_5052+900del
c.4535-1420_4845+900del
c.1238-1420_1548+900del
c.4739-1420_5049+900del
c.1063-1420_1373+900del
c.1250-1420_1560+900del
c.*4459-1420_*4769+900del
c.989-1420_1299+900del
c.5-8707_5-6077del (n.5-8707_5-6077del)
c.149-1420_459+900del
c.-98-22468_-98-19838del (n.-98-22468_-98-19838del)
n.4812-1420_5122+900del
n.4853-1420_5163+900del
 ClinVar
17g.43070145_43072775delCA2697559917BRCA1c.4673-1528_4983+792del
c.4676-1528_4986+792del
c.4550-1528_4860+792del
c.4670-1528_4980+792del
c.4598-1528_4908+792del
c.1364-1528_1674+792del
c.1226-1528_1536+792del
c.3788-1528_4098+792del
c.4553-1528_4863+792del
c.4742-1528_5052+792del
c.4535-1528_4845+792del
c.1238-1528_1548+792del
c.4739-1528_5049+792del
c.1063-1528_1373+792del
c.1250-1528_1560+792del
c.*4459-1528_*4769+792del
c.989-1528_1299+792del
c.5-8815_5-6185del (n.5-8815_5-6185del)
c.149-1528_459+792del
c.-98-22576_-98-19946del (n.-98-22576_-98-19946del)
n.4812-1528_5122+792del
n.4853-1528_5163+792del
 ClinVar
17g.43070208_43078359dupCA16043350BRCA1c.4358-1732_4983+736dup
c.4358-1729_4986+736dup
c.4232-1729_4860+736dup
c.4352-1729_4980+736dup
c.4280-1729_4908+736dup
c.1046-1729_1674+736dup
c.908-1729_1536+736dup
c.3470-1729_4098+736dup
c.4235-1729_4863+736dup
c.4423+991_5052+736dup
c.4217-1729_4845+736dup
c.923-1732_1548+736dup
c.4423+991_5049+736dup
c.744+991_1373+736dup
c.932-1729_1560+736dup
c.*4141-1729_*4769+736dup
c.1049-1732_1674+736dup
c.671-1729_1299+736dup
c.5-14392_5-6241dup (n.5-14392_5-6241dup)
c.-43-3822_459+736dup
c.-98-28153_-98-20002dup (n.-98-28153_-98-20002dup)
n.4494-1729_5122+736dup
n.4535-1729_5163+736dup
17g.43070192_43078360dupCA2580612611BRCA1c.4358-1749_4983+736dup
c.4358-1746_4986+736dup
c.4232-1746_4860+736dup
c.4352-1746_4980+736dup
c.4280-1746_4908+736dup
c.1046-1746_1674+736dup
c.908-1746_1536+736dup
c.3470-1746_4098+736dup
c.4235-1746_4863+736dup
c.4423+974_5052+736dup
c.4217-1746_4845+736dup
c.923-1749_1548+736dup
c.4423+974_5049+736dup
c.744+974_1373+736dup
c.932-1746_1560+736dup
c.*4141-1746_*4769+736dup
c.1049-1749_1674+736dup
c.671-1746_1299+736dup
c.5-14409_5-6241dup (n.5-14409_5-6241dup)
c.-43-3839_459+736dup
c.-98-28170_-98-20002dup (n.-98-28170_-98-20002dup)
n.4494-1746_5122+736dup
n.4535-1746_5163+736dup
17g.43070972_43071054delinsTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCACA2260772786BRCA1c.4857_4939delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr1619=)
c.4860_4942delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr1620=)
c.4734_4816delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr1578=)
c.4854_4936delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr1618=)
c.4782_4864delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr1594=)
c.1548_1630delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr516=)
c.1410_1492delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr470=)
c.3972_4054delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr1324=)
c.4737_4819delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr1579=)
c.4926_5008delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr1642=)
c.4719_4801delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr1573=)
c.1422_1504delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr474=)
c.1467_1549delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr489=)
c.4923_5005delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr1641=)
c.1247_1329delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA
c.1434_1516delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr478=)
c.*4643_*4725delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (n.*4643_*4725delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA)
n.13_95delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA
c.1173_1255delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr391=)
c.5-7103_5-7021delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (n.5-7103_5-7021delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA)
c.333_415delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr111=)
c.-98-20864_-98-20782delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (n.-98-20864_-98-20782delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA)
n.4996_5078delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA
n.5037_5119delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA
17g.43070975_43071056delCA10589635BRCA1c.4857_4938del (p.Asp1620LysfsTer10)
c.4860_4941del (p.Asp1621LysfsTer10)
c.4734_4815del (p.Asp1579LysfsTer10)
c.4854_4935del (p.Asp1619LysfsTer10)
c.4782_4863del (p.Asp1595LysfsTer10)
c.1548_1629del (p.Asp517LysfsTer10)
c.1410_1491del (p.Asp471LysfsTer10)
c.3972_4053del (p.Asp1325LysfsTer10)
c.4737_4818del (p.Asp1580LysfsTer10)
c.4926_5007del (p.Asp1643LysfsTer10)
c.4719_4800del (p.Asp1574LysfsTer10)
c.1422_1503del (p.Asp475LysfsTer10)
c.1467_1548del (p.Asp490LysfsTer10)
c.4923_5004del (p.Asp1642LysfsTer10)
c.1247_1328del
c.1434_1515del (p.Asp479LysfsTer10)
c.*4643_*4724del (n.*4643_*4724del)
n.13_94del
c.1173_1254del (p.Asp392LysfsTer10)
c.5-7103_5-7022del (n.5-7103_5-7022del)
c.333_414del (p.Asp112LysfsTer10)
c.-98-20864_-98-20783del (n.-98-20864_-98-20783del)
n.4996_5077del
n.5037_5118del
 ClinVar dbSNP
17g.43070977A=CA2260772792BRCA1c.4934T= (p.Val1645=)
c.4937T= (p.Val1646=)
c.4811T= (p.Val1604=)
c.4931T= (p.Val1644=)
c.4859T= (p.Val1620=)
c.1625T= (p.Val542=)
c.1487T= (p.Val496=)
c.4049T= (p.Val1350=)
c.4814T= (p.Val1605=)
c.5003T= (p.Val1668=)
c.4796T= (p.Val1599=)
c.1499T= (p.Val500=)
c.1544T= (p.Val515=)
c.5000T= (p.Val1667=)
c.1324T=
c.1511T= (p.Val504=)
c.*4720T= (n.*4720T=)
n.90T=
c.1250T= (p.Val417=)
c.5-7026T= (n.5-7026T=)
c.410T= (p.Val137=)
c.-98-20787T= (n.-98-20787T=)
n.5073T=
n.5114T=
17g.43070977A>CCA10591649BRCA1c.4934T>G (p.Val1645Gly)
c.4937T>G (p.Val1646Gly)
c.4811T>G (p.Val1604Gly)
c.4931T>G (p.Val1644Gly)
c.4859T>G (p.Val1620Gly)
c.1625T>G (p.Val542Gly)
c.1487T>G (p.Val496Gly)
c.4049T>G (p.Val1350Gly)
c.4814T>G (p.Val1605Gly)
c.5003T>G (p.Val1668Gly)
c.4796T>G (p.Val1599Gly)
c.1499T>G (p.Val500Gly)
c.1544T>G (p.Val515Gly)
c.5000T>G (p.Val1667Gly)
c.1324T>G
c.1511T>G (p.Val504Gly)
c.*4720T>G (n.*4720T>G)
n.90T>G
c.1250T>G (p.Val417Gly)
c.5-7026T>G (n.5-7026T>G)
c.410T>G (p.Val137Gly)
c.-98-20787T>G (n.-98-20787T>G)
n.5073T>G
n.5114T>G
 ClinVar dbSNP
17g.43070977A>GCA10591650BRCA1c.4934T>C (p.Val1645Ala)
c.4937T>C (p.Val1646Ala)
c.4811T>C (p.Val1604Ala)
c.4931T>C (p.Val1644Ala)
c.4859T>C (p.Val1620Ala)
c.1625T>C (p.Val542Ala)
c.1487T>C (p.Val496Ala)
c.4049T>C (p.Val1350Ala)
c.4814T>C (p.Val1605Ala)
c.5003T>C (p.Val1668Ala)
c.4796T>C (p.Val1599Ala)
c.1499T>C (p.Val500Ala)
c.1544T>C (p.Val515Ala)
c.5000T>C (p.Val1667Ala)
c.1324T>C
c.1511T>C (p.Val504Ala)
c.*4720T>C (n.*4720T>C)
n.90T>C
c.1250T>C (p.Val417Ala)
c.5-7026T>C (n.5-7026T>C)
c.410T>C (p.Val137Ala)
c.-98-20787T>C (n.-98-20787T>C)
n.5073T>C
n.5114T>C
 ClinVar dbSNP
17g.43070977A>TCA10591651BRCA1c.4934T>A (p.Val1645Asp)
c.4937T>A (p.Val1646Asp)
c.4811T>A (p.Val1604Asp)
c.4931T>A (p.Val1644Asp)
c.4859T>A (p.Val1620Asp)
c.1625T>A (p.Val542Asp)
c.1487T>A (p.Val496Asp)
c.4049T>A (p.Val1350Asp)
c.4814T>A (p.Val1605Asp)
c.5003T>A (p.Val1668Asp)
c.4796T>A (p.Val1599Asp)
c.1499T>A (p.Val500Asp)
c.1544T>A (p.Val515Asp)
c.5000T>A (p.Val1667Asp)
c.1324T>A
c.1511T>A (p.Val504Asp)
c.*4720T>A (n.*4720T>A)
n.90T>A
c.1250T>A (p.Val417Asp)
c.5-7026T>A (n.5-7026T>A)
c.410T>A (p.Val137Asp)
c.-98-20787T>A (n.-98-20787T>A)
n.5073T>A
n.5114T>A
 ClinVar dbSNP
17g.43070977_43070978delinsACCA2260772793BRCA1c.4933_4934delinsGT (p.Val1645=)
c.4936_4937delinsGT (p.Val1646=)
c.4810_4811delinsGT (p.Val1604=)
c.4930_4931delinsGT (p.Val1644=)
c.4858_4859delinsGT (p.Val1620=)
c.1624_1625delinsGT (p.Val542=)
c.1486_1487delinsGT (p.Val496=)
c.4048_4049delinsGT (p.Val1350=)
c.4813_4814delinsGT (p.Val1605=)
c.5002_5003delinsGT (p.Val1668=)
c.4795_4796delinsGT (p.Val1599=)
c.1498_1499delinsGT (p.Val500=)
c.1543_1544delinsGT (p.Val515=)
c.4999_5000delinsGT (p.Val1667=)
c.1323_1324delinsGT
c.1510_1511delinsGT (p.Val504=)
c.*4719_*4720delinsGT (n.*4719_*4720delinsGT)
n.89_90delinsGT
c.1249_1250delinsGT (p.Val417=)
c.5-7027_5-7026delinsGT (n.5-7027_5-7026delinsGT)
c.409_410delinsGT (p.Val137=)
c.-98-20788_-98-20787delinsGT (n.-98-20788_-98-20787delinsGT)
n.5072_5073delinsGT
n.5113_5114delinsGT
17g.43070978C>ACA10591652BRCA1c.4933G>T (p.Val1645Phe)
c.4936G>T (p.Val1646Phe)
c.4810G>T (p.Val1604Phe)
c.4930G>T (p.Val1644Phe)
c.4858G>T (p.Val1620Phe)
c.1624G>T (p.Val542Phe)
c.1486G>T (p.Val496Phe)
c.4048G>T (p.Val1350Phe)
c.4813G>T (p.Val1605Phe)
c.5002G>T (p.Val1668Phe)
c.4795G>T (p.Val1599Phe)
c.1498G>T (p.Val500Phe)
c.1543G>T (p.Val515Phe)
c.4999G>T (p.Val1667Phe)
c.1323G>T
c.1510G>T (p.Val504Phe)
c.*4719G>T (n.*4719G>T)
n.89G>T
c.1249G>T (p.Val417Phe)
c.5-7027G>T (n.5-7027G>T)
c.409G>T (p.Val137Phe)
c.-98-20788G>T (n.-98-20788G>T)
n.5072G>T
n.5113G>T
 ClinVar dbSNP
17g.43070978C=CA2260772794BRCA1c.4933G= (p.Val1645=)
c.4936G= (p.Val1646=)
c.4810G= (p.Val1604=)
c.4930G= (p.Val1644=)
c.4858G= (p.Val1620=)
c.1624G= (p.Val542=)
c.1486G= (p.Val496=)
c.4048G= (p.Val1350=)
c.4813G= (p.Val1605=)
c.5002G= (p.Val1668=)
c.4795G= (p.Val1599=)
c.1498G= (p.Val500=)
c.1543G= (p.Val515=)
c.4999G= (p.Val1667=)
c.1323G=
c.1510G= (p.Val504=)
c.*4719G= (n.*4719G=)
n.89G=
c.1249G= (p.Val417=)
c.5-7027G= (n.5-7027G=)
c.409G= (p.Val137=)
c.-98-20788G= (n.-98-20788G=)
n.5072G=
n.5113G=
17g.43070978C>GCA10591653BRCA1c.4933G>C (p.Val1645Leu)
c.4936G>C (p.Val1646Leu)
c.4810G>C (p.Val1604Leu)
c.4930G>C (p.Val1644Leu)
c.4858G>C (p.Val1620Leu)
c.1624G>C (p.Val542Leu)
c.1486G>C (p.Val496Leu)
c.4048G>C (p.Val1350Leu)
c.4813G>C (p.Val1605Leu)
c.5002G>C (p.Val1668Leu)
c.4795G>C (p.Val1599Leu)
c.1498G>C (p.Val500Leu)
c.1543G>C (p.Val515Leu)
c.4999G>C (p.Val1667Leu)
c.1323G>C
c.1510G>C (p.Val504Leu)
c.*4719G>C (n.*4719G>C)
n.89G>C
c.1249G>C (p.Val417Leu)
c.5-7027G>C (n.5-7027G>C)
c.409G>C (p.Val137Leu)
c.-98-20788G>C (n.-98-20788G>C)
n.5072G>C
n.5113G>C
 ClinVar dbSNP
17g.43070978C>TCA10591654BRCA1c.4933G>A (p.Val1645Ile)
c.4936G>A (p.Val1646Ile)
c.4810G>A (p.Val1604Ile)
c.4930G>A (p.Val1644Ile)
c.4858G>A (p.Val1620Ile)
c.1624G>A (p.Val542Ile)
c.1486G>A (p.Val496Ile)
c.4048G>A (p.Val1350Ile)
c.4813G>A (p.Val1605Ile)
c.5002G>A (p.Val1668Ile)
c.4795G>A (p.Val1599Ile)
c.1498G>A (p.Val500Ile)
c.1543G>A (p.Val515Ile)
c.4999G>A (p.Val1667Ile)
c.1323G>A
c.1510G>A (p.Val504Ile)
c.*4719G>A (n.*4719G>A)
n.89G>A
c.1249G>A (p.Val417Ile)
c.5-7027G>A (n.5-7027G>A)
c.409G>A (p.Val137Ile)
c.-98-20788G>A (n.-98-20788G>A)
n.5072G>A
n.5113G>A
 ClinVar dbSNP gnomAD v4
17g.43070980dupCA2695195948BRCA1c.4933dup (p.Val1645GlyfsTer?)
c.4936dup (p.Val1646GlyfsTer?)
c.4810dup (p.Val1604GlyfsTer?)
c.4930dup (p.Val1644GlyfsTer?)
c.4858dup (p.Val1620GlyfsTer?)
c.1624dup (p.Val542GlyfsTer?)
c.1486dup (p.Val496GlyfsTer?)
c.4048dup (p.Val1350GlyfsTer?)
c.4813dup (p.Val1605GlyfsTer?)
c.5002dup (p.Val1668GlyfsTer?)
c.4795dup (p.Val1599GlyfsTer?)
c.1498dup (p.Val500GlyfsTer?)
c.1543dup (p.Val515GlyfsTer29)
c.4999dup (p.Val1667GlyfsTer?)
c.1323dup
c.1510dup (p.Val504GlyfsTer?)
c.*4719dup (n.*4719dup)
n.89dup
c.1249dup (p.Val417GlyfsTer?)
c.5-7027dup (n.5-7027dup)
c.409dup (p.Val137GlyfsTer?)
c.-98-20788dup (n.-98-20788dup)
n.5072dup
n.5113dup
17g.43070980delCA003086BRCA1c.4933del (p.Val1645SerfsTer12)
c.4936del (p.Val1646SerfsTer12)
c.4810del (p.Val1604SerfsTer12)
c.4930del (p.Val1644SerfsTer12)
c.4858del (p.Val1620SerfsTer12)
c.1624del (p.Val542SerfsTer12)
c.1486del (p.Val496SerfsTer12)
c.4048del (p.Val1350SerfsTer12)
c.4813del (p.Val1605SerfsTer12)
c.5002del (p.Val1668SerfsTer12)
c.4795del (p.Val1599SerfsTer12)
c.1498del (p.Val500SerfsTer12)
c.1543del (p.Val515SerfsTer12)
c.4999del (p.Val1667SerfsTer12)
c.1323del
c.1510del (p.Val504SerfsTer12)
c.*4719del (n.*4719del)
n.89del
c.1249del (p.Val417SerfsTer12)
c.5-7027del (n.5-7027del)
c.409del (p.Val137SerfsTer12)
c.-98-20788del (n.-98-20788del)
n.5072del
n.5113del
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43070978_43070979insTTCA658825002BRCA1c.4932_4933insAA (p.Val1645LysfsTer13)
c.4935_4936insAA (p.Val1646LysfsTer13)
c.4809_4810insAA (p.Val1604LysfsTer13)
c.4929_4930insAA (p.Val1644LysfsTer13)
c.4857_4858insAA (p.Val1620LysfsTer13)
c.1623_1624insAA (p.Val542LysfsTer13)
c.1485_1486insAA (p.Val496LysfsTer13)
c.4047_4048insAA (p.Val1350LysfsTer13)
c.4812_4813insAA (p.Val1605LysfsTer13)
c.5001_5002insAA (p.Val1668LysfsTer13)
c.4794_4795insAA (p.Val1599LysfsTer13)
c.1497_1498insAA (p.Val500LysfsTer13)
c.1542_1543insAA (p.Val515LysfsTer13)
c.4998_4999insAA (p.Val1667LysfsTer13)
c.1322_1323insAA
c.1509_1510insAA (p.Val504LysfsTer13)
c.*4718_*4719insAA (n.*4718_*4719insAA)
n.88_89insAA
c.1248_1249insAA (p.Val417LysfsTer13)
c.5-7028_5-7027insAA (n.5-7028_5-7027insAA)
c.408_409insAA (p.Val137LysfsTer13)
c.-98-20789_-98-20788insAA (n.-98-20789_-98-20788insAA)
n.5071_5072insAA
n.5112_5113insAA
 ClinVar dbSNP
17g.43070979C>ACA10591655BRCA1c.4932G>T (p.Arg1644Ser)
c.4935G>T (p.Arg1645Ser)
c.4809G>T (p.Arg1603Ser)
c.4929G>T (p.Arg1643Ser)
c.4857G>T (p.Arg1619Ser)
c.1623G>T (p.Arg541Ser)
c.1485G>T (p.Arg495Ser)
c.4047G>T (p.Arg1349Ser)
c.4812G>T (p.Arg1604Ser)
c.5001G>T (p.Arg1667Ser)
c.4794G>T (p.Arg1598Ser)
c.1497G>T (p.Arg499Ser)
c.1542G>T (p.Arg514Ser)
c.4998G>T (p.Arg1666Ser)
c.1322G>T
c.1509G>T (p.Arg503Ser)
c.*4718G>T (n.*4718G>T)
n.88G>T
c.1248G>T (p.Arg416Ser)
c.5-7028G>T (n.5-7028G>T)
c.408G>T (p.Arg136Ser)
c.-98-20789G>T (n.-98-20789G>T)
n.5071G>T
n.5112G>T
 ClinVar dbSNP
17g.43070979C=CA2260772795BRCA1c.4932G= (p.Arg1644=)
c.4935G= (p.Arg1645=)
c.4809G= (p.Arg1603=)
c.4929G= (p.Arg1643=)
c.4857G= (p.Arg1619=)
c.1623G= (p.Arg541=)
c.1485G= (p.Arg495=)
c.4047G= (p.Arg1349=)
c.4812G= (p.Arg1604=)
c.5001G= (p.Arg1667=)
c.4794G= (p.Arg1598=)
c.1497G= (p.Arg499=)
c.1542G= (p.Arg514=)
c.4998G= (p.Arg1666=)
c.1322G=
c.1509G= (p.Arg503=)
c.*4718G= (n.*4718G=)
n.88G=
c.1248G= (p.Arg416=)
c.5-7028G= (n.5-7028G=)
c.408G= (p.Arg136=)
c.-98-20789G= (n.-98-20789G=)
n.5071G=
n.5112G=
17g.43070979C>GCA003089BRCA1c.4932G>C (p.Arg1644Ser)
c.4935G>C (p.Arg1645Ser)
c.4809G>C (p.Arg1603Ser)
c.4929G>C (p.Arg1643Ser)
c.4857G>C (p.Arg1619Ser)
c.1623G>C (p.Arg541Ser)
c.1485G>C (p.Arg495Ser)
c.4047G>C (p.Arg1349Ser)
c.4812G>C (p.Arg1604Ser)
c.5001G>C (p.Arg1667Ser)
c.4794G>C (p.Arg1598Ser)
c.1497G>C (p.Arg499Ser)
c.1542G>C (p.Arg514Ser)
c.4998G>C (p.Arg1666Ser)
c.1322G>C
c.1509G>C (p.Arg503Ser)
c.*4718G>C (n.*4718G>C)
n.88G>C
c.1248G>C (p.Arg416Ser)
c.5-7028G>C (n.5-7028G>C)
c.408G>C (p.Arg136Ser)
c.-98-20789G>C (n.-98-20789G>C)
n.5071G>C
n.5112G>C
 ClinVar dbSNP gnomAD v4
17g.43070979C>TCA500231627BRCA1c.4932G>A (p.Arg1644=)
c.4935G>A (p.Arg1645=)
c.4809G>A (p.Arg1603=)
c.4929G>A (p.Arg1643=)
c.4857G>A (p.Arg1619=)
c.1623G>A (p.Arg541=)
c.1485G>A (p.Arg495=)
c.4047G>A (p.Arg1349=)
c.4812G>A (p.Arg1604=)
c.5001G>A (p.Arg1667=)
c.4794G>A (p.Arg1598=)
c.1497G>A (p.Arg499=)
c.1542G>A (p.Arg514=)
c.4998G>A (p.Arg1666=)
c.1322G>A
c.1509G>A (p.Arg503=)
c.*4718G>A (n.*4718G>A)
n.88G>A
c.1248G>A (p.Arg416=)
c.5-7028G>A (n.5-7028G>A)
c.408G>A (p.Arg136=)
c.-98-20789G>A (n.-98-20789G>A)
n.5071G>A
n.5112G>A
 ClinVar dbSNP
17g.43070979_43070980insTTGTCCA2733912913BRCA1c.4932_4933insACAAG (p.Val1645ThrfsTer14)
c.4935_4936insACAAG (p.Val1646ThrfsTer14)
c.4809_4810insACAAG (p.Val1604ThrfsTer14)
c.4929_4930insACAAG (p.Val1644ThrfsTer14)
c.4857_4858insACAAG (p.Val1620ThrfsTer14)
c.1623_1624insACAAG (p.Val542ThrfsTer14)
c.1485_1486insACAAG (p.Val496ThrfsTer14)
c.4047_4048insACAAG (p.Val1350ThrfsTer14)
c.4812_4813insACAAG (p.Val1605ThrfsTer14)
c.5001_5002insACAAG (p.Val1668ThrfsTer14)
c.4794_4795insACAAG (p.Val1599ThrfsTer14)
c.1497_1498insACAAG (p.Val500ThrfsTer14)
c.1542_1543insACAAG (p.Val515ThrfsTer14)
c.4998_4999insACAAG (p.Val1667ThrfsTer14)
c.1322_1323insACAAG
c.1509_1510insACAAG (p.Val504ThrfsTer14)
c.*4718_*4719insACAAG (n.*4718_*4719insACAAG)
n.88_89insACAAG
c.1248_1249insACAAG (p.Val417ThrfsTer14)
c.5-7028_5-7027insACAAG (n.5-7028_5-7027insACAAG)
c.408_409insACAAG (p.Val137ThrfsTer14)
c.-98-20789_-98-20788insACAAG (n.-98-20789_-98-20788insACAAG)
n.5071_5072insACAAG
n.5112_5113insACAAG
 dbSNP
17g.43070979_43070980insTTCA645373140BRCA1c.4931_4932insAA (p.Val1645ArgfsTer13)
c.4934_4935insAA (p.Val1646ArgfsTer13)
c.4808_4809insAA (p.Val1604ArgfsTer13)
c.4928_4929insAA (p.Val1644ArgfsTer13)
c.4856_4857insAA (p.Val1620ArgfsTer13)
c.1622_1623insAA (p.Val542ArgfsTer13)
c.1484_1485insAA (p.Val496ArgfsTer13)
c.4046_4047insAA (p.Val1350ArgfsTer13)
c.4811_4812insAA (p.Val1605ArgfsTer13)
c.5000_5001insAA (p.Val1668ArgfsTer13)
c.4793_4794insAA (p.Val1599ArgfsTer13)
c.1496_1497insAA (p.Val500ArgfsTer13)
c.1541_1542insAA (p.Val515ArgfsTer13)
c.4997_4998insAA (p.Val1667ArgfsTer13)
c.1321_1322insAA
c.1508_1509insAA (p.Val504ArgfsTer13)
c.*4717_*4718insAA (n.*4717_*4718insAA)
n.87_88insAA
c.1247_1248insAA (p.Val417ArgfsTer13)
c.5-7029_5-7028insAA (n.5-7029_5-7028insAA)
c.407_408insAA (p.Val137ArgfsTer13)
c.-98-20790_-98-20789insAA (n.-98-20790_-98-20789insAA)
n.5070_5071insAA
n.5111_5112insAA
 ClinVar dbSNP
17g.43070980C>ACA003088BRCA1c.4931G>T (p.Arg1644Met)
c.4934G>T (p.Arg1645Met)
c.4808G>T (p.Arg1603Met)
c.4928G>T (p.Arg1643Met)
c.4856G>T (p.Arg1619Met)
c.1622G>T (p.Arg541Met)
c.1484G>T (p.Arg495Met)
c.4046G>T (p.Arg1349Met)
c.4811G>T (p.Arg1604Met)
c.5000G>T (p.Arg1667Met)
c.4793G>T (p.Arg1598Met)
c.1496G>T (p.Arg499Met)
c.1541G>T (p.Arg514Met)
c.4997G>T (p.Arg1666Met)
c.1321G>T
c.1508G>T (p.Arg503Met)
c.*4717G>T (n.*4717G>T)
n.87G>T
c.1247G>T (p.Arg416Met)
c.5-7029G>T (n.5-7029G>T)
c.407G>T (p.Arg136Met)
c.-98-20790G>T (n.-98-20790G>T)
n.5070G>T
n.5111G>T
 ClinVar dbSNP
17g.43070980C=CA2260772796BRCA1c.4931G= (p.Arg1644=)
c.4934G= (p.Arg1645=)
c.4808G= (p.Arg1603=)
c.4928G= (p.Arg1643=)
c.4856G= (p.Arg1619=)
c.1622G= (p.Arg541=)
c.1484G= (p.Arg495=)
c.4046G= (p.Arg1349=)
c.4811G= (p.Arg1604=)
c.5000G= (p.Arg1667=)
c.4793G= (p.Arg1598=)
c.1496G= (p.Arg499=)
c.1541G= (p.Arg514=)
c.4997G= (p.Arg1666=)
c.1321G=
c.1508G= (p.Arg503=)
c.*4717G= (n.*4717G=)
n.87G=
c.1247G= (p.Arg416=)
c.5-7029G= (n.5-7029G=)
c.407G= (p.Arg136=)
c.-98-20790G= (n.-98-20790G=)
n.5070G=
n.5111G=
17g.43070980C>GCA003087BRCA1c.4931G>C (p.Arg1644Thr)
c.4934G>C (p.Arg1645Thr)
c.4808G>C (p.Arg1603Thr)
c.4928G>C (p.Arg1643Thr)
c.4856G>C (p.Arg1619Thr)
c.1622G>C (p.Arg541Thr)
c.1484G>C (p.Arg495Thr)
c.4046G>C (p.Arg1349Thr)
c.4811G>C (p.Arg1604Thr)
c.5000G>C (p.Arg1667Thr)
c.4793G>C (p.Arg1598Thr)
c.1496G>C (p.Arg499Thr)
c.1541G>C (p.Arg514Thr)
c.4997G>C (p.Arg1666Thr)
c.1321G>C
c.1508G>C (p.Arg503Thr)
c.*4717G>C (n.*4717G>C)
n.87G>C
c.1247G>C (p.Arg416Thr)
c.5-7029G>C (n.5-7029G>C)
c.407G>C (p.Arg136Thr)
c.-98-20790G>C (n.-98-20790G>C)
n.5070G>C
n.5111G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43070980C>TCA10591656BRCA1c.4931G>A (p.Arg1644Lys)
c.4934G>A (p.Arg1645Lys)
c.4808G>A (p.Arg1603Lys)
c.4928G>A (p.Arg1643Lys)
c.4856G>A (p.Arg1619Lys)
c.1622G>A (p.Arg541Lys)
c.1484G>A (p.Arg495Lys)
c.4046G>A (p.Arg1349Lys)
c.4811G>A (p.Arg1604Lys)
c.5000G>A (p.Arg1667Lys)
c.4793G>A (p.Arg1598Lys)
c.1496G>A (p.Arg499Lys)
c.1541G>A (p.Arg514Lys)
c.4997G>A (p.Arg1666Lys)
c.1321G>A
c.1508G>A (p.Arg503Lys)
c.*4717G>A (n.*4717G>A)
n.87G>A
c.1247G>A (p.Arg416Lys)
c.5-7029G>A (n.5-7029G>A)
c.407G>A (p.Arg136Lys)
c.-98-20790G>A (n.-98-20790G>A)
n.5070G>A
n.5111G>A
 ClinVar dbSNP
17g.43070981T>ACA10591657BRCA1c.4930A>T (p.Arg1644Trp)
c.4933A>T (p.Arg1645Trp)
c.4807A>T (p.Arg1603Trp)
c.4927A>T (p.Arg1643Trp)
c.4855A>T (p.Arg1619Trp)
c.1621A>T (p.Arg541Trp)
c.1483A>T (p.Arg495Trp)
c.4045A>T (p.Arg1349Trp)
c.4810A>T (p.Arg1604Trp)
c.4999A>T (p.Arg1667Trp)
c.4792A>T (p.Arg1598Trp)
c.1495A>T (p.Arg499Trp)
c.1540A>T (p.Arg514Trp)
c.4996A>T (p.Arg1666Trp)
c.1320A>T
c.1507A>T (p.Arg503Trp)
c.*4716A>T (n.*4716A>T)
n.86A>T
c.1246A>T (p.Arg416Trp)
c.5-7030A>T (n.5-7030A>T)
c.406A>T (p.Arg136Trp)
c.-98-20791A>T (n.-98-20791A>T)
n.5069A>T
n.5110A>T
 ClinVar dbSNP
17g.43070981T>CCA003084BRCA1c.4930A>G (p.Arg1644Gly)
c.4933A>G (p.Arg1645Gly)
c.4807A>G (p.Arg1603Gly)
c.4927A>G (p.Arg1643Gly)
c.4855A>G (p.Arg1619Gly)
c.1621A>G (p.Arg541Gly)
c.1483A>G (p.Arg495Gly)
c.4045A>G (p.Arg1349Gly)
c.4810A>G (p.Arg1604Gly)
c.4999A>G (p.Arg1667Gly)
c.4792A>G (p.Arg1598Gly)
c.1495A>G (p.Arg499Gly)
c.1540A>G (p.Arg514Gly)
c.4996A>G (p.Arg1666Gly)
c.1320A>G
c.1507A>G (p.Arg503Gly)
c.*4716A>G (n.*4716A>G)
n.86A>G
c.1246A>G (p.Arg416Gly)
c.5-7030A>G (n.5-7030A>G)
c.406A>G (p.Arg136Gly)
c.-98-20791A>G (n.-98-20791A>G)
n.5069A>G
n.5110A>G
 ClinVar dbSNP
17g.43070981T>GCA500231628BRCA1c.4930A>C (p.Arg1644=)
c.4933A>C (p.Arg1645=)
c.4807A>C (p.Arg1603=)
c.4927A>C (p.Arg1643=)
c.4855A>C (p.Arg1619=)
c.1621A>C (p.Arg541=)
c.1483A>C (p.Arg495=)
c.4045A>C (p.Arg1349=)
c.4810A>C (p.Arg1604=)
c.4999A>C (p.Arg1667=)
c.4792A>C (p.Arg1598=)
c.1495A>C (p.Arg499=)
c.1540A>C (p.Arg514=)
c.4996A>C (p.Arg1666=)
c.1320A>C
c.1507A>C (p.Arg503=)
c.*4716A>C (n.*4716A>C)
n.86A>C
c.1246A>C (p.Arg416=)
c.5-7030A>C (n.5-7030A>C)
c.406A>C (p.Arg136=)
c.-98-20791A>C (n.-98-20791A>C)
n.5069A>C
n.5110A>C
 ClinVar dbSNP
17g.43070981T=CA2260772797BRCA1c.4930A= (p.Arg1644=)
c.4933A= (p.Arg1645=)
c.4807A= (p.Arg1603=)
c.4927A= (p.Arg1643=)
c.4855A= (p.Arg1619=)
c.1621A= (p.Arg541=)
c.1483A= (p.Arg495=)
c.4045A= (p.Arg1349=)
c.4810A= (p.Arg1604=)
c.4999A= (p.Arg1667=)
c.4792A= (p.Arg1598=)
c.1495A= (p.Arg499=)
c.1540A= (p.Arg514=)
c.4996A= (p.Arg1666=)
c.1320A=
c.1507A= (p.Arg503=)
c.*4716A= (n.*4716A=)
n.86A=
c.1246A= (p.Arg416=)
c.5-7030A= (n.5-7030A=)
c.406A= (p.Arg136=)
c.-98-20791A= (n.-98-20791A=)
n.5069A=
n.5110A=
17g.43070982_43070983dupCA003083BRCA1c.4929_4930dup (p.Arg1644LysfsTer14)
c.4932_4933dup (p.Arg1645LysfsTer14)
c.4806_4807dup (p.Arg1603LysfsTer14)
c.4926_4927dup (p.Arg1643LysfsTer14)
c.4854_4855dup (p.Arg1619LysfsTer14)
c.1620_1621dup (p.Arg541LysfsTer14)
c.1482_1483dup (p.Arg495LysfsTer14)
c.4044_4045dup (p.Arg1349LysfsTer14)
c.4809_4810dup (p.Arg1604LysfsTer14)
c.4998_4999dup (p.Arg1667LysfsTer14)
c.4791_4792dup (p.Arg1598LysfsTer14)
c.1494_1495dup (p.Arg499LysfsTer14)
c.1539_1540dup (p.Arg514LysfsTer14)
c.4995_4996dup (p.Arg1666LysfsTer14)
c.1319_1320dup
c.1506_1507dup (p.Arg503LysfsTer14)
c.*4715_*4716dup (n.*4715_*4716dup)
n.85_86dup
c.1245_1246dup (p.Arg416LysfsTer14)
c.5-7031_5-7030dup (n.5-7031_5-7030dup)
c.405_406dup (p.Arg136LysfsTer14)
c.-98-20792_-98-20791dup (n.-98-20792_-98-20791dup)
n.5068_5069dup
n.5109_5110dup
 ClinVar dbSNP
17g.43070983delCA1139768351BRCA1c.4930del (p.Arg1644GlyfsTer13)
c.4933del (p.Arg1645GlyfsTer13)
c.4807del (p.Arg1603GlyfsTer13)
c.4927del (p.Arg1643GlyfsTer13)
c.4855del (p.Arg1619GlyfsTer13)
c.1621del (p.Arg541GlyfsTer13)
c.1483del (p.Arg495GlyfsTer13)
c.4045del (p.Arg1349GlyfsTer13)
c.4810del (p.Arg1604GlyfsTer13)
c.4999del (p.Arg1667GlyfsTer13)
c.4792del (p.Arg1598GlyfsTer13)
c.1495del (p.Arg499GlyfsTer13)
c.1540del (p.Arg514GlyfsTer13)
c.4996del (p.Arg1666GlyfsTer13)
c.1320del
c.1507del (p.Arg503GlyfsTer13)
c.*4716del (n.*4716del)
n.86del
c.1246del (p.Arg416GlyfsTer13)
c.5-7030del (n.5-7030del)
c.406del (p.Arg136GlyfsTer13)
c.-98-20791del (n.-98-20791del)
n.5069del
n.5110del
 ClinVar dbSNP
17g.43070982T>ACA10591658BRCA1c.4929A>T (p.Glu1643Asp)
c.4932A>T (p.Glu1644Asp)
c.4806A>T (p.Glu1602Asp)
c.4926A>T (p.Glu1642Asp)
c.4854A>T (p.Glu1618Asp)
c.1620A>T (p.Glu540Asp)
c.1482A>T (p.Glu494Asp)
c.4044A>T (p.Glu1348Asp)
c.4809A>T (p.Glu1603Asp)
c.4998A>T (p.Glu1666Asp)
c.4791A>T (p.Glu1597Asp)
c.1494A>T (p.Glu498Asp)
c.1539A>T (p.Glu513Asp)
c.4995A>T (p.Glu1665Asp)
c.1319A>T
c.1506A>T (p.Glu502Asp)
c.*4715A>T (n.*4715A>T)
n.85A>T
c.1245A>T (p.Glu415Asp)
c.5-7031A>T (n.5-7031A>T)
c.405A>T (p.Glu135Asp)
c.-98-20792A>T (n.-98-20792A>T)
n.5068A>T
n.5109A>T
 ClinVar dbSNP
17g.43070982T>CCA500231630BRCA1c.4929A>G (p.Glu1643=)
c.4932A>G (p.Glu1644=)
c.4806A>G (p.Glu1602=)
c.4926A>G (p.Glu1642=)
c.4854A>G (p.Glu1618=)
c.1620A>G (p.Glu540=)
c.1482A>G (p.Glu494=)
c.4044A>G (p.Glu1348=)
c.4809A>G (p.Glu1603=)
c.4998A>G (p.Glu1666=)
c.4791A>G (p.Glu1597=)
c.1494A>G (p.Glu498=)
c.1539A>G (p.Glu513=)
c.4995A>G (p.Glu1665=)
c.1319A>G
c.1506A>G (p.Glu502=)
c.*4715A>G (n.*4715A>G)
n.85A>G
c.1245A>G (p.Glu415=)
c.5-7031A>G (n.5-7031A>G)
c.405A>G (p.Glu135=)
c.-98-20792A>G (n.-98-20792A>G)
n.5068A>G
n.5109A>G
 ClinVar dbSNP
17g.43070982T>GCA10591659BRCA1c.4929A>C (p.Glu1643Asp)
c.4932A>C (p.Glu1644Asp)
c.4806A>C (p.Glu1602Asp)
c.4926A>C (p.Glu1642Asp)
c.4854A>C (p.Glu1618Asp)
c.1620A>C (p.Glu540Asp)
c.1482A>C (p.Glu494Asp)
c.4044A>C (p.Glu1348Asp)
c.4809A>C (p.Glu1603Asp)
c.4998A>C (p.Glu1666Asp)
c.4791A>C (p.Glu1597Asp)
c.1494A>C (p.Glu498Asp)
c.1539A>C (p.Glu513Asp)
c.4995A>C (p.Glu1665Asp)
c.1319A>C
c.1506A>C (p.Glu502Asp)
c.*4715A>C (n.*4715A>C)
n.85A>C
c.1245A>C (p.Glu415Asp)
c.5-7031A>C (n.5-7031A>C)
c.405A>C (p.Glu135Asp)
c.-98-20792A>C (n.-98-20792A>C)
n.5068A>C
n.5109A>C
 ClinVar dbSNP
17g.43070982T=CA2260772799BRCA1c.4929A= (p.Glu1643=)
c.4932A= (p.Glu1644=)
c.4806A= (p.Glu1602=)
c.4926A= (p.Glu1642=)
c.4854A= (p.Glu1618=)
c.1620A= (p.Glu540=)
c.1482A= (p.Glu494=)
c.4044A= (p.Glu1348=)
c.4809A= (p.Glu1603=)
c.4998A= (p.Glu1666=)
c.4791A= (p.Glu1597=)
c.1494A= (p.Glu498=)
c.1539A= (p.Glu513=)
c.4995A= (p.Glu1665=)
c.1319A=
c.1506A= (p.Glu502=)
c.*4715A= (n.*4715A=)
n.85A=
c.1245A= (p.Glu415=)
c.5-7031A= (n.5-7031A=)
c.405A= (p.Glu135=)
c.-98-20792A= (n.-98-20792A=)
n.5068A=
n.5109A=
17g.43070982_43070984delinsTTCCA2260772798BRCA1c.4927_4929delinsGAA (p.Glu1643=)
c.4930_4932delinsGAA (p.Glu1644=)
c.4804_4806delinsGAA (p.Glu1602=)
c.4924_4926delinsGAA (p.Glu1642=)
c.4852_4854delinsGAA (p.Glu1618=)
c.1618_1620delinsGAA (p.Glu540=)
c.1480_1482delinsGAA (p.Glu494=)
c.4042_4044delinsGAA (p.Glu1348=)
c.4807_4809delinsGAA (p.Glu1603=)
c.4996_4998delinsGAA (p.Glu1666=)
c.4789_4791delinsGAA (p.Glu1597=)
c.1492_1494delinsGAA (p.Glu498=)
c.1537_1539delinsGAA (p.Glu513=)
c.4993_4995delinsGAA (p.Glu1665=)
c.1317_1319delinsGAA
c.1504_1506delinsGAA (p.Glu502=)
c.*4713_*4715delinsGAA (n.*4713_*4715delinsGAA)
n.83_85delinsGAA
c.1243_1245delinsGAA (p.Glu415=)
c.5-7033_5-7031delinsGAA (n.5-7033_5-7031delinsGAA)
c.403_405delinsGAA (p.Glu135=)
c.-98-20794_-98-20792delinsGAA (n.-98-20794_-98-20792delinsGAA)
n.5066_5068delinsGAA
n.5107_5109delinsGAA
17g.43070983T>ACA10591660BRCA1c.4928A>T (p.Glu1643Val)
c.4931A>T (p.Glu1644Val)
c.4805A>T (p.Glu1602Val)
c.4925A>T (p.Glu1642Val)
c.4853A>T (p.Glu1618Val)
c.1619A>T (p.Glu540Val)
c.1481A>T (p.Glu494Val)
c.4043A>T (p.Glu1348Val)
c.4808A>T (p.Glu1603Val)
c.4997A>T (p.Glu1666Val)
c.4790A>T (p.Glu1597Val)
c.1493A>T (p.Glu498Val)
c.1538A>T (p.Glu513Val)
c.4994A>T (p.Glu1665Val)
c.1318A>T
c.1505A>T (p.Glu502Val)
c.*4714A>T (n.*4714A>T)
n.84A>T
c.1244A>T (p.Glu415Val)
c.5-7032A>T (n.5-7032A>T)
c.404A>T (p.Glu135Val)
c.-98-20793A>T (n.-98-20793A>T)
n.5067A>T
n.5108A>T
 ClinVar dbSNP
17g.43070983T>CCA003082BRCA1c.4928A>G (p.Glu1643Gly)
c.4931A>G (p.Glu1644Gly)
c.4805A>G (p.Glu1602Gly)
c.4925A>G (p.Glu1642Gly)
c.4853A>G (p.Glu1618Gly)
c.1619A>G (p.Glu540Gly)
c.1481A>G (p.Glu494Gly)
c.4043A>G (p.Glu1348Gly)
c.4808A>G (p.Glu1603Gly)
c.4997A>G (p.Glu1666Gly)
c.4790A>G (p.Glu1597Gly)
c.1493A>G (p.Glu498Gly)
c.1538A>G (p.Glu513Gly)
c.4994A>G (p.Glu1665Gly)
c.1318A>G
c.1505A>G (p.Glu502Gly)
c.*4714A>G (n.*4714A>G)
n.84A>G
c.1244A>G (p.Glu415Gly)
c.5-7032A>G (n.5-7032A>G)
c.404A>G (p.Glu135Gly)
c.-98-20793A>G (n.-98-20793A>G)
n.5067A>G
n.5108A>G
 ClinVar dbSNP gnomAD v4
17g.43070983T>GCA10591661BRCA1c.4928A>C (p.Glu1643Ala)
c.4931A>C (p.Glu1644Ala)
c.4805A>C (p.Glu1602Ala)
c.4925A>C (p.Glu1642Ala)
c.4853A>C (p.Glu1618Ala)
c.1619A>C (p.Glu540Ala)
c.1481A>C (p.Glu494Ala)
c.4043A>C (p.Glu1348Ala)
c.4808A>C (p.Glu1603Ala)
c.4997A>C (p.Glu1666Ala)
c.4790A>C (p.Glu1597Ala)
c.1493A>C (p.Glu498Ala)
c.1538A>C (p.Glu513Ala)
c.4994A>C (p.Glu1665Ala)
c.1318A>C
c.1505A>C (p.Glu502Ala)
c.*4714A>C (n.*4714A>C)
n.84A>C
c.1244A>C (p.Glu415Ala)
c.5-7032A>C (n.5-7032A>C)
c.404A>C (p.Glu135Ala)
c.-98-20793A>C (n.-98-20793A>C)
n.5067A>C
n.5108A>C
 ClinVar dbSNP
17g.43070983T=CA2260772800BRCA1c.4928A= (p.Glu1643=)
c.4931A= (p.Glu1644=)
c.4805A= (p.Glu1602=)
c.4925A= (p.Glu1642=)
c.4853A= (p.Glu1618=)
c.1619A= (p.Glu540=)
c.1481A= (p.Glu494=)
c.4043A= (p.Glu1348=)
c.4808A= (p.Glu1603=)
c.4997A= (p.Glu1666=)
c.4790A= (p.Glu1597=)
c.1493A= (p.Glu498=)
c.1538A= (p.Glu513=)
c.4994A= (p.Glu1665=)
c.1318A=
c.1505A= (p.Glu502=)
c.*4714A= (n.*4714A=)
n.84A=
c.1244A= (p.Glu415=)
c.5-7032A= (n.5-7032A=)
c.404A= (p.Glu135=)
c.-98-20793A= (n.-98-20793A=)
n.5067A=
n.5108A=
17g.43070984_43070985delCA919844185BRCA1c.4927_4928del (p.Glu1643LysfsTer?)
c.4930_4931del (p.Glu1644LysfsTer?)
c.4804_4805del (p.Glu1602LysfsTer?)
c.4924_4925del (p.Glu1642LysfsTer?)
c.4852_4853del (p.Glu1618LysfsTer?)
c.1618_1619del (p.Glu540LysfsTer?)
c.1480_1481del (p.Glu494LysfsTer?)
c.4042_4043del (p.Glu1348LysfsTer?)
c.4807_4808del (p.Glu1603LysfsTer?)
c.4996_4997del (p.Glu1666LysfsTer?)
c.4789_4790del (p.Glu1597LysfsTer?)
c.1492_1493del (p.Glu498LysfsTer?)
c.1537_1538del (p.Glu513LysfsTer30)
c.4993_4994del (p.Glu1665LysfsTer?)
c.1317_1318del
c.1504_1505del (p.Glu502LysfsTer?)
c.*4713_*4714del (n.*4713_*4714del)
n.83_84del
c.1243_1244del (p.Glu415LysfsTer?)
c.5-7033_5-7032del (n.5-7033_5-7032del)
c.403_404del (p.Glu135LysfsTer?)
c.-98-20794_-98-20793del (n.-98-20794_-98-20793del)
n.5066_5067del
n.5107_5108del
 dbSNP
17g.43070984C>ACA003081BRCA1c.4927G>T (p.Glu1643Ter)
c.4930G>T (p.Glu1644Ter)
c.4804G>T (p.Glu1602Ter)
c.4924G>T (p.Glu1642Ter)
c.4852G>T (p.Glu1618Ter)
c.1618G>T (p.Glu540Ter)
c.1480G>T (p.Glu494Ter)
c.4042G>T (p.Glu1348Ter)
c.4807G>T (p.Glu1603Ter)
c.4996G>T (p.Glu1666Ter)
c.4789G>T (p.Glu1597Ter)
c.1492G>T (p.Glu498Ter)
c.1537G>T (p.Glu513Ter)
c.4993G>T (p.Glu1665Ter)
c.1317G>T
c.1504G>T (p.Glu502Ter)
c.*4713G>T (n.*4713G>T)
n.83G>T
c.1243G>T (p.Glu415Ter)
c.5-7033G>T (n.5-7033G>T)
c.403G>T (p.Glu135Ter)
c.-98-20794G>T (n.-98-20794G>T)
n.5066G>T
n.5107G>T
 ClinVar dbSNP COSMIC
17g.43070984C=CA2260772801BRCA1c.4927G= (p.Glu1643=)
c.4930G= (p.Glu1644=)
c.4804G= (p.Glu1602=)
c.4924G= (p.Glu1642=)
c.4852G= (p.Glu1618=)
c.1618G= (p.Glu540=)
c.1480G= (p.Glu494=)
c.4042G= (p.Glu1348=)
c.4807G= (p.Glu1603=)
c.4996G= (p.Glu1666=)
c.4789G= (p.Glu1597=)
c.1492G= (p.Glu498=)
c.1537G= (p.Glu513=)
c.4993G= (p.Glu1665=)
c.1317G=
c.1504G= (p.Glu502=)
c.*4713G= (n.*4713G=)
n.83G=
c.1243G= (p.Glu415=)
c.5-7033G= (n.5-7033G=)
c.403G= (p.Glu135=)
c.-98-20794G= (n.-98-20794G=)
n.5066G=
n.5107G=
17g.43070984C>GCA10591662BRCA1c.4927G>C (p.Glu1643Gln)
c.4930G>C (p.Glu1644Gln)
c.4804G>C (p.Glu1602Gln)
c.4924G>C (p.Glu1642Gln)
c.4852G>C (p.Glu1618Gln)
c.1618G>C (p.Glu540Gln)
c.1480G>C (p.Glu494Gln)
c.4042G>C (p.Glu1348Gln)
c.4807G>C (p.Glu1603Gln)
c.4996G>C (p.Glu1666Gln)
c.4789G>C (p.Glu1597Gln)
c.1492G>C (p.Glu498Gln)
c.1537G>C (p.Glu513Gln)
c.4993G>C (p.Glu1665Gln)
c.1317G>C
c.1504G>C (p.Glu502Gln)
c.*4713G>C (n.*4713G>C)
n.83G>C
c.1243G>C (p.Glu415Gln)
c.5-7033G>C (n.5-7033G>C)
c.403G>C (p.Glu135Gln)
c.-98-20794G>C (n.-98-20794G>C)
n.5066G>C
n.5107G>C
 ClinVar dbSNP
17g.43070984C>TCA10591663BRCA1c.4927G>A (p.Glu1643Lys)
c.4930G>A (p.Glu1644Lys)
c.4804G>A (p.Glu1602Lys)
c.4924G>A (p.Glu1642Lys)
c.4852G>A (p.Glu1618Lys)
c.1618G>A (p.Glu540Lys)
c.1480G>A (p.Glu494Lys)
c.4042G>A (p.Glu1348Lys)
c.4807G>A (p.Glu1603Lys)
c.4996G>A (p.Glu1666Lys)
c.4789G>A (p.Glu1597Lys)
c.1492G>A (p.Glu498Lys)
c.1537G>A (p.Glu513Lys)
c.4993G>A (p.Glu1665Lys)
c.1317G>A
c.1504G>A (p.Glu502Lys)
c.*4713G>A (n.*4713G>A)
n.83G>A
c.1243G>A (p.Glu415Lys)
c.5-7033G>A (n.5-7033G>A)
c.403G>A (p.Glu135Lys)
c.-98-20794G>A (n.-98-20794G>A)
n.5066G>A
n.5107G>A
 ClinVar dbSNP gnomAD v4
17g.43070985delCA2580094006BRCA1c.4926del (p.Glu1643LysfsTer14)
c.4929del (p.Glu1644LysfsTer14)
c.4803del (p.Glu1602LysfsTer14)
c.4923del (p.Glu1642LysfsTer14)
c.4851del (p.Glu1618LysfsTer14)
c.1617del (p.Glu540LysfsTer14)
c.1479del (p.Glu494LysfsTer14)
c.4041del (p.Glu1348LysfsTer14)
c.4806del (p.Glu1603LysfsTer14)
c.4995del (p.Glu1666LysfsTer14)
c.4788del (p.Glu1597LysfsTer14)
c.1491del (p.Glu498LysfsTer14)
c.1536del (p.Glu513LysfsTer14)
c.4992del (p.Glu1665LysfsTer14)
c.1316del
c.1503del (p.Glu502LysfsTer14)
c.*4712del (n.*4712del)
n.82del
c.1242del (p.Glu415LysfsTer14)
c.5-7034del (n.5-7034del)
c.402del (p.Glu135LysfsTer14)
c.-98-20795del (n.-98-20795del)
n.5065del
n.5106del
 ClinVar
17g.43070985T>ACA500231637BRCA1c.4926A>T (p.Thr1642=)
c.4929A>T (p.Thr1643=)
c.4803A>T (p.Thr1601=)
c.4923A>T (p.Thr1641=)
c.4851A>T (p.Thr1617=)
c.1617A>T (p.Thr539=)
c.1479A>T (p.Thr493=)
c.4041A>T (p.Thr1347=)
c.4806A>T (p.Thr1602=)
c.4995A>T (p.Thr1665=)
c.4788A>T (p.Thr1596=)
c.1491A>T (p.Thr497=)
c.1536A>T (p.Thr512=)
c.4992A>T (p.Thr1664=)
c.1316A>T
c.1503A>T (p.Thr501=)
c.*4712A>T (n.*4712A>T)
n.82A>T
c.1242A>T (p.Thr414=)
c.5-7034A>T (n.5-7034A>T)
c.402A>T (p.Thr134=)
c.-98-20795A>T (n.-98-20795A>T)
n.5065A>T
n.5106A>T
 ClinVar dbSNP
17g.43070985T>CCA500231639BRCA1c.4926A>G (p.Thr1642=)
c.4929A>G (p.Thr1643=)
c.4803A>G (p.Thr1601=)
c.4923A>G (p.Thr1641=)
c.4851A>G (p.Thr1617=)
c.1617A>G (p.Thr539=)
c.1479A>G (p.Thr493=)
c.4041A>G (p.Thr1347=)
c.4806A>G (p.Thr1602=)
c.4995A>G (p.Thr1665=)
c.4788A>G (p.Thr1596=)
c.1491A>G (p.Thr497=)
c.1536A>G (p.Thr512=)
c.4992A>G (p.Thr1664=)
c.1316A>G
c.1503A>G (p.Thr501=)
c.*4712A>G (n.*4712A>G)
n.82A>G
c.1242A>G (p.Thr414=)
c.5-7034A>G (n.5-7034A>G)
c.402A>G (p.Thr134=)
c.-98-20795A>G (n.-98-20795A>G)
n.5065A>G
n.5106A>G
 ClinVar dbSNP
17g.43070985T>GCA003080BRCA1c.4926A>C (p.Thr1642=)
c.4929A>C (p.Thr1643=)
c.4803A>C (p.Thr1601=)
c.4923A>C (p.Thr1641=)
c.4851A>C (p.Thr1617=)
c.1617A>C (p.Thr539=)
c.1479A>C (p.Thr493=)
c.4041A>C (p.Thr1347=)
c.4806A>C (p.Thr1602=)
c.4995A>C (p.Thr1665=)
c.4788A>C (p.Thr1596=)
c.1491A>C (p.Thr497=)
c.1536A>C (p.Thr512=)
c.4992A>C (p.Thr1664=)
c.1316A>C
c.1503A>C (p.Thr501=)
c.*4712A>C (n.*4712A>C)
n.82A>C
c.1242A>C (p.Thr414=)
c.5-7034A>C (n.5-7034A>C)
c.402A>C (p.Thr134=)
c.-98-20795A>C (n.-98-20795A>C)
n.5065A>C
n.5106A>C
 ClinVar dbSNP
17g.43070985T=CA2260772802BRCA1c.4926A= (p.Thr1642=)
c.4929A= (p.Thr1643=)
c.4803A= (p.Thr1601=)
c.4923A= (p.Thr1641=)
c.4851A= (p.Thr1617=)
c.1617A= (p.Thr539=)
c.1479A= (p.Thr493=)
c.4041A= (p.Thr1347=)
c.4806A= (p.Thr1602=)
c.4995A= (p.Thr1665=)
c.4788A= (p.Thr1596=)
c.1491A= (p.Thr497=)
c.1536A= (p.Thr512=)
c.4992A= (p.Thr1664=)
c.1316A=
c.1503A= (p.Thr501=)
c.*4712A= (n.*4712A=)
n.82A=
c.1242A= (p.Thr414=)
c.5-7034A= (n.5-7034A=)
c.402A= (p.Thr134=)
c.-98-20795A= (n.-98-20795A=)
n.5065A=
n.5106A=
17g.43070986G>ACA10591664BRCA1c.4925C>T (p.Thr1642Ile)
c.4928C>T (p.Thr1643Ile)
c.4802C>T (p.Thr1601Ile)
c.4922C>T (p.Thr1641Ile)
c.4850C>T (p.Thr1617Ile)
c.1616C>T (p.Thr539Ile)
c.1478C>T (p.Thr493Ile)
c.4040C>T (p.Thr1347Ile)
c.4805C>T (p.Thr1602Ile)
c.4994C>T (p.Thr1665Ile)
c.4787C>T (p.Thr1596Ile)
c.1490C>T (p.Thr497Ile)
c.1535C>T (p.Thr512Ile)
c.4991C>T (p.Thr1664Ile)
c.1315C>T
c.1502C>T (p.Thr501Ile)
c.*4711C>T (n.*4711C>T)
n.81C>T
c.1241C>T (p.Thr414Ile)
c.5-7035C>T (n.5-7035C>T)
c.401C>T (p.Thr134Ile)
c.-98-20796C>T (n.-98-20796C>T)
n.5064C>T
n.5105C>T
 ClinVar dbSNP
17g.43070986G>CCA10591665BRCA1c.4925C>G (p.Thr1642Arg)
c.4928C>G (p.Thr1643Arg)
c.4802C>G (p.Thr1601Arg)
c.4922C>G (p.Thr1641Arg)
c.4850C>G (p.Thr1617Arg)
c.1616C>G (p.Thr539Arg)
c.1478C>G (p.Thr493Arg)
c.4040C>G (p.Thr1347Arg)
c.4805C>G (p.Thr1602Arg)
c.4994C>G (p.Thr1665Arg)
c.4787C>G (p.Thr1596Arg)
c.1490C>G (p.Thr497Arg)
c.1535C>G (p.Thr512Arg)
c.4991C>G (p.Thr1664Arg)
c.1315C>G
c.1502C>G (p.Thr501Arg)
c.*4711C>G (n.*4711C>G)
n.81C>G
c.1241C>G (p.Thr414Arg)
c.5-7035C>G (n.5-7035C>G)
c.401C>G (p.Thr134Arg)
c.-98-20796C>G (n.-98-20796C>G)
n.5064C>G
n.5105C>G
 ClinVar dbSNP
17g.43070986G=CA2260772803BRCA1c.4925C= (p.Thr1642=)
c.4928C= (p.Thr1643=)
c.4802C= (p.Thr1601=)
c.4922C= (p.Thr1641=)
c.4850C= (p.Thr1617=)
c.1616C= (p.Thr539=)
c.1478C= (p.Thr493=)
c.4040C= (p.Thr1347=)
c.4805C= (p.Thr1602=)
c.4994C= (p.Thr1665=)
c.4787C= (p.Thr1596=)
c.1490C= (p.Thr497=)
c.1535C= (p.Thr512=)
c.4991C= (p.Thr1664=)
c.1315C=
c.1502C= (p.Thr501=)
c.*4711C= (n.*4711C=)
n.81C=
c.1241C= (p.Thr414=)
c.5-7035C= (n.5-7035C=)
c.401C= (p.Thr134=)
c.-98-20796C= (n.-98-20796C=)
n.5064C=
n.5105C=
17g.43070986G>TCA10591666BRCA1c.4925C>A (p.Thr1642Lys)
c.4928C>A (p.Thr1643Lys)
c.4802C>A (p.Thr1601Lys)
c.4922C>A (p.Thr1641Lys)
c.4850C>A (p.Thr1617Lys)
c.1616C>A (p.Thr539Lys)
c.1478C>A (p.Thr493Lys)
c.4040C>A (p.Thr1347Lys)
c.4805C>A (p.Thr1602Lys)
c.4994C>A (p.Thr1665Lys)
c.4787C>A (p.Thr1596Lys)
c.1490C>A (p.Thr497Lys)
c.1535C>A (p.Thr512Lys)
c.4991C>A (p.Thr1664Lys)
c.1315C>A
c.1502C>A (p.Thr501Lys)
c.*4711C>A (n.*4711C>A)
n.81C>A
c.1241C>A (p.Thr414Lys)
c.5-7035C>A (n.5-7035C>A)
c.401C>A (p.Thr134Lys)
c.-98-20796C>A (n.-98-20796C>A)
n.5064C>A
n.5105C>A
 ClinVar dbSNP
17g.43070987T>ACA10591667BRCA1c.4924A>T (p.Thr1642Ser)
c.4927A>T (p.Thr1643Ser)
c.4801A>T (p.Thr1601Ser)
c.4921A>T (p.Thr1641Ser)
c.4849A>T (p.Thr1617Ser)
c.1615A>T (p.Thr539Ser)
c.1477A>T (p.Thr493Ser)
c.4039A>T (p.Thr1347Ser)
c.4804A>T (p.Thr1602Ser)
c.4993A>T (p.Thr1665Ser)
c.4786A>T (p.Thr1596Ser)
c.1489A>T (p.Thr497Ser)
c.1534A>T (p.Thr512Ser)
c.4990A>T (p.Thr1664Ser)
c.1314A>T
c.1501A>T (p.Thr501Ser)
c.*4710A>T (n.*4710A>T)
n.80A>T
c.1240A>T (p.Thr414Ser)
c.5-7036A>T (n.5-7036A>T)
c.400A>T (p.Thr134Ser)
c.-98-20797A>T (n.-98-20797A>T)
n.5063A>T
n.5104A>T
 ClinVar dbSNP
17g.43070987T>CCA10591668BRCA1c.4924A>G (p.Thr1642Ala)
c.4927A>G (p.Thr1643Ala)
c.4801A>G (p.Thr1601Ala)
c.4921A>G (p.Thr1641Ala)
c.4849A>G (p.Thr1617Ala)
c.1615A>G (p.Thr539Ala)
c.1477A>G (p.Thr493Ala)
c.4039A>G (p.Thr1347Ala)
c.4804A>G (p.Thr1602Ala)
c.4993A>G (p.Thr1665Ala)
c.4786A>G (p.Thr1596Ala)
c.1489A>G (p.Thr497Ala)
c.1534A>G (p.Thr512Ala)
c.4990A>G (p.Thr1664Ala)
c.1314A>G
c.1501A>G (p.Thr501Ala)
c.*4710A>G (n.*4710A>G)
n.80A>G
c.1240A>G (p.Thr414Ala)
c.5-7036A>G (n.5-7036A>G)
c.400A>G (p.Thr134Ala)
c.-98-20797A>G (n.-98-20797A>G)
n.5063A>G
n.5104A>G
 ClinVar dbSNP
17g.43070987T>GCA10591669BRCA1c.4924A>C (p.Thr1642Pro)
c.4927A>C (p.Thr1643Pro)
c.4801A>C (p.Thr1601Pro)
c.4921A>C (p.Thr1641Pro)
c.4849A>C (p.Thr1617Pro)
c.1615A>C (p.Thr539Pro)
c.1477A>C (p.Thr493Pro)
c.4039A>C (p.Thr1347Pro)
c.4804A>C (p.Thr1602Pro)
c.4993A>C (p.Thr1665Pro)
c.4786A>C (p.Thr1596Pro)
c.1489A>C (p.Thr497Pro)
c.1534A>C (p.Thr512Pro)
c.4990A>C (p.Thr1664Pro)
c.1314A>C
c.1501A>C (p.Thr501Pro)
c.*4710A>C (n.*4710A>C)
n.80A>C
c.1240A>C (p.Thr414Pro)
c.5-7036A>C (n.5-7036A>C)
c.400A>C (p.Thr134Pro)
c.-98-20797A>C (n.-98-20797A>C)
n.5063A>C
n.5104A>C
 ClinVar dbSNP
17g.43070987T=CA2260772804BRCA1c.4924A= (p.Thr1642=)
c.4927A= (p.Thr1643=)
c.4801A= (p.Thr1601=)
c.4921A= (p.Thr1641=)
c.4849A= (p.Thr1617=)
c.1615A= (p.Thr539=)
c.1477A= (p.Thr493=)
c.4039A= (p.Thr1347=)
c.4804A= (p.Thr1602=)
c.4993A= (p.Thr1665=)
c.4786A= (p.Thr1596=)
c.1489A= (p.Thr497=)
c.1534A= (p.Thr512=)
c.4990A= (p.Thr1664=)
c.1314A=
c.1501A= (p.Thr501=)
c.*4710A= (n.*4710A=)
n.80A=
c.1240A= (p.Thr414=)
c.5-7036A= (n.5-7036A=)
c.400A= (p.Thr134=)
c.-98-20797A= (n.-98-20797A=)
n.5063A=
n.5104A=
17g.43070988T>ACA500231647BRCA1c.4923A>T (p.Ser1641=)
c.4926A>T (p.Ser1642=)
c.4800A>T (p.Ser1600=)
c.4920A>T (p.Ser1640=)
c.4848A>T (p.Ser1616=)
c.1614A>T (p.Ser538=)
c.1476A>T (p.Ser492=)
c.4038A>T (p.Ser1346=)
c.4803A>T (p.Ser1601=)
c.4992A>T (p.Ser1664=)
c.4785A>T (p.Ser1595=)
c.1488A>T (p.Ser496=)
c.1533A>T (p.Ser511=)
c.4989A>T (p.Ser1663=)
c.1313A>T
c.1500A>T (p.Ser500=)
c.*4709A>T (n.*4709A>T)
n.79A>T
c.1239A>T (p.Ser413=)
c.5-7037A>T (n.5-7037A>T)
c.399A>T (p.Ser133=)
c.-98-20798A>T (n.-98-20798A>T)
n.5062A>T
n.5103A>T
 ClinVar dbSNP
17g.43070988T>CCA500231644BRCA1c.4923A>G (p.Ser1641=)
c.4926A>G (p.Ser1642=)
c.4800A>G (p.Ser1600=)
c.4920A>G (p.Ser1640=)
c.4848A>G (p.Ser1616=)
c.1614A>G (p.Ser538=)
c.1476A>G (p.Ser492=)
c.4038A>G (p.Ser1346=)
c.4803A>G (p.Ser1601=)
c.4992A>G (p.Ser1664=)
c.4785A>G (p.Ser1595=)
c.1488A>G (p.Ser496=)
c.1533A>G (p.Ser511=)
c.4989A>G (p.Ser1663=)
c.1313A>G
c.1500A>G (p.Ser500=)
c.*4709A>G (n.*4709A>G)
n.79A>G
c.1239A>G (p.Ser413=)
c.5-7037A>G (n.5-7037A>G)
c.399A>G (p.Ser133=)
c.-98-20798A>G (n.-98-20798A>G)
n.5062A>G
n.5103A>G
 ClinVar dbSNP
17g.43070988T>GCA500231645BRCA1c.4923A>C (p.Ser1641=)
c.4926A>C (p.Ser1642=)
c.4800A>C (p.Ser1600=)
c.4920A>C (p.Ser1640=)
c.4848A>C (p.Ser1616=)
c.1614A>C (p.Ser538=)
c.1476A>C (p.Ser492=)
c.4038A>C (p.Ser1346=)
c.4803A>C (p.Ser1601=)
c.4992A>C (p.Ser1664=)
c.4785A>C (p.Ser1595=)
c.1488A>C (p.Ser496=)
c.1533A>C (p.Ser511=)
c.4989A>C (p.Ser1663=)
c.1313A>C
c.1500A>C (p.Ser500=)
c.*4709A>C (n.*4709A>C)
n.79A>C
c.1239A>C (p.Ser413=)
c.5-7037A>C (n.5-7037A>C)
c.399A>C (p.Ser133=)
c.-98-20798A>C (n.-98-20798A>C)
n.5062A>C
n.5103A>C
 ClinVar dbSNP
17g.43070988T=CA2260772805BRCA1c.4923A= (p.Ser1641=)
c.4926A= (p.Ser1642=)
c.4800A= (p.Ser1600=)
c.4920A= (p.Ser1640=)
c.4848A= (p.Ser1616=)
c.1614A= (p.Ser538=)
c.1476A= (p.Ser492=)
c.4038A= (p.Ser1346=)
c.4803A= (p.Ser1601=)
c.4992A= (p.Ser1664=)
c.4785A= (p.Ser1595=)
c.1488A= (p.Ser496=)
c.1533A= (p.Ser511=)
c.4989A= (p.Ser1663=)
c.1313A=
c.1500A= (p.Ser500=)
c.*4709A= (n.*4709A=)
n.79A=
c.1239A= (p.Ser413=)
c.5-7037A= (n.5-7037A=)
c.399A= (p.Ser133=)
c.-98-20798A= (n.-98-20798A=)
n.5062A=
n.5103A=
17g.43070989G>ACA10591670BRCA1c.4922C>T (p.Ser1641Leu)
c.4925C>T (p.Ser1642Leu)
c.4799C>T (p.Ser1600Leu)
c.4919C>T (p.Ser1640Leu)
c.4847C>T (p.Ser1616Leu)
c.1613C>T (p.Ser538Leu)
c.1475C>T (p.Ser492Leu)
c.4037C>T (p.Ser1346Leu)
c.4802C>T (p.Ser1601Leu)
c.4991C>T (p.Ser1664Leu)
c.4784C>T (p.Ser1595Leu)
c.1487C>T (p.Ser496Leu)
c.1532C>T (p.Ser511Leu)
c.4988C>T (p.Ser1663Leu)
c.1312C>T
c.1499C>T (p.Ser500Leu)
c.*4708C>T (n.*4708C>T)
n.78C>T
c.1238C>T (p.Ser413Leu)
c.5-7038C>T (n.5-7038C>T)
c.398C>T (p.Ser133Leu)
c.-98-20799C>T (n.-98-20799C>T)
n.5061C>T
n.5102C>T
 ClinVar dbSNP
17g.43070989G>CCA10591671BRCA1c.4922C>G (p.Ser1641Ter)
c.4925C>G (p.Ser1642Ter)
c.4799C>G (p.Ser1600Ter)
c.4919C>G (p.Ser1640Ter)
c.4847C>G (p.Ser1616Ter)
c.1613C>G (p.Ser538Ter)
c.1475C>G (p.Ser492Ter)
c.4037C>G (p.Ser1346Ter)
c.4802C>G (p.Ser1601Ter)
c.4991C>G (p.Ser1664Ter)
c.4784C>G (p.Ser1595Ter)
c.1487C>G (p.Ser496Ter)
c.1532C>G (p.Ser511Ter)
c.4988C>G (p.Ser1663Ter)
c.1312C>G
c.1499C>G (p.Ser500Ter)
c.*4708C>G (n.*4708C>G)
n.78C>G
c.1238C>G (p.Ser413Ter)
c.5-7038C>G (n.5-7038C>G)
c.398C>G (p.Ser133Ter)
c.-98-20799C>G (n.-98-20799C>G)
n.5061C>G
n.5102C>G
 ClinVar dbSNP
17g.43070989G=CA2260772806BRCA1c.4922C= (p.Ser1641=)
c.4925C= (p.Ser1642=)
c.4799C= (p.Ser1600=)
c.4919C= (p.Ser1640=)
c.4847C= (p.Ser1616=)
c.1613C= (p.Ser538=)
c.1475C= (p.Ser492=)
c.4037C= (p.Ser1346=)
c.4802C= (p.Ser1601=)
c.4991C= (p.Ser1664=)
c.4784C= (p.Ser1595=)
c.1487C= (p.Ser496=)
c.1532C= (p.Ser511=)
c.4988C= (p.Ser1663=)
c.1312C=
c.1499C= (p.Ser500=)
c.*4708C= (n.*4708C=)
n.78C=
c.1238C= (p.Ser413=)
c.5-7038C= (n.5-7038C=)
c.398C= (p.Ser133=)
c.-98-20799C= (n.-98-20799C=)
n.5061C=
n.5102C=
17g.43070989G>TCA10591672BRCA1c.4922C>A (p.Ser1641Ter)
c.4925C>A (p.Ser1642Ter)
c.4799C>A (p.Ser1600Ter)
c.4919C>A (p.Ser1640Ter)
c.4847C>A (p.Ser1616Ter)
c.1613C>A (p.Ser538Ter)
c.1475C>A (p.Ser492Ter)
c.4037C>A (p.Ser1346Ter)
c.4802C>A (p.Ser1601Ter)
c.4991C>A (p.Ser1664Ter)
c.4784C>A (p.Ser1595Ter)
c.1487C>A (p.Ser496Ter)
c.1532C>A (p.Ser511Ter)
c.4988C>A (p.Ser1663Ter)
c.1312C>A
c.1499C>A (p.Ser500Ter)
c.*4708C>A (n.*4708C>A)
n.78C>A
c.1238C>A (p.Ser413Ter)
c.5-7038C>A (n.5-7038C>A)
c.398C>A (p.Ser133Ter)
c.-98-20799C>A (n.-98-20799C>A)
n.5061C>A
n.5102C>A
 ClinVar dbSNP
17g.43070990A=CA2260772807BRCA1c.4921T= (p.Ser1641=)
c.4924T= (p.Ser1642=)
c.4798T= (p.Ser1600=)
c.4918T= (p.Ser1640=)
c.4846T= (p.Ser1616=)
c.1612T= (p.Ser538=)
c.1474T= (p.Ser492=)
c.4036T= (p.Ser1346=)
c.4801T= (p.Ser1601=)
c.4990T= (p.Ser1664=)
c.4783T= (p.Ser1595=)
c.1486T= (p.Ser496=)
c.1531T= (p.Ser511=)
c.4987T= (p.Ser1663=)
c.1311T=
c.1498T= (p.Ser500=)
c.*4707T= (n.*4707T=)
n.77T=
c.1237T= (p.Ser413=)
c.5-7039T= (n.5-7039T=)
c.397T= (p.Ser133=)
c.-98-20800T= (n.-98-20800T=)
n.5060T=
n.5101T=
17g.43070990A>CCA10591673BRCA1c.4921T>G (p.Ser1641Ala)
c.4924T>G (p.Ser1642Ala)
c.4798T>G (p.Ser1600Ala)
c.4918T>G (p.Ser1640Ala)
c.4846T>G (p.Ser1616Ala)
c.1612T>G (p.Ser538Ala)
c.1474T>G (p.Ser492Ala)
c.4036T>G (p.Ser1346Ala)
c.4801T>G (p.Ser1601Ala)
c.4990T>G (p.Ser1664Ala)
c.4783T>G (p.Ser1595Ala)
c.1486T>G (p.Ser496Ala)
c.1531T>G (p.Ser511Ala)
c.4987T>G (p.Ser1663Ala)
c.1311T>G
c.1498T>G (p.Ser500Ala)
c.*4707T>G (n.*4707T>G)
n.77T>G
c.1237T>G (p.Ser413Ala)
c.5-7039T>G (n.5-7039T>G)
c.397T>G (p.Ser133Ala)
c.-98-20800T>G (n.-98-20800T>G)
n.5060T>G
n.5101T>G
 ClinVar dbSNP
17g.43070990A>GCA10591674BRCA1c.4921T>C (p.Ser1641Pro)
c.4924T>C (p.Ser1642Pro)
c.4798T>C (p.Ser1600Pro)
c.4918T>C (p.Ser1640Pro)
c.4846T>C (p.Ser1616Pro)
c.1612T>C (p.Ser538Pro)
c.1474T>C (p.Ser492Pro)
c.4036T>C (p.Ser1346Pro)
c.4801T>C (p.Ser1601Pro)
c.4990T>C (p.Ser1664Pro)
c.4783T>C (p.Ser1595Pro)
c.1486T>C (p.Ser496Pro)
c.1531T>C (p.Ser511Pro)
c.4987T>C (p.Ser1663Pro)
c.1311T>C
c.1498T>C (p.Ser500Pro)
c.*4707T>C (n.*4707T>C)
n.77T>C
c.1237T>C (p.Ser413Pro)
c.5-7039T>C (n.5-7039T>C)
c.397T>C (p.Ser133Pro)
c.-98-20800T>C (n.-98-20800T>C)
n.5060T>C
n.5101T>C
 ClinVar dbSNP
17g.43070990A>TCA10591675BRCA1c.4921T>A (p.Ser1641Thr)
c.4924T>A (p.Ser1642Thr)
c.4798T>A (p.Ser1600Thr)
c.4918T>A (p.Ser1640Thr)
c.4846T>A (p.Ser1616Thr)
c.1612T>A (p.Ser538Thr)
c.1474T>A (p.Ser492Thr)
c.4036T>A (p.Ser1346Thr)
c.4801T>A (p.Ser1601Thr)
c.4990T>A (p.Ser1664Thr)
c.4783T>A (p.Ser1595Thr)
c.1486T>A (p.Ser496Thr)
c.1531T>A (p.Ser511Thr)
c.4987T>A (p.Ser1663Thr)
c.1311T>A
c.1498T>A (p.Ser500Thr)
c.*4707T>A (n.*4707T>A)
n.77T>A
c.1237T>A (p.Ser413Thr)
c.5-7039T>A (n.5-7039T>A)
c.397T>A (p.Ser133Thr)
c.-98-20800T>A (n.-98-20800T>A)
n.5060T>A
n.5101T>A
 ClinVar dbSNP
17g.43070991A=CA2260772808BRCA1c.4920T= (p.Ala1640=)
c.4923T= (p.Ala1641=)
c.4797T= (p.Ala1599=)
c.4917T= (p.Ala1639=)
c.4845T= (p.Ala1615=)
c.1611T= (p.Ala537=)
c.1473T= (p.Ala491=)
c.4035T= (p.Ala1345=)
c.4800T= (p.Ala1600=)
c.4989T= (p.Ala1663=)
c.4782T= (p.Ala1594=)
c.1485T= (p.Ala495=)
c.1530T= (p.Ala510=)
c.4986T= (p.Ala1662=)
c.1310T=
c.1497T= (p.Ala499=)
c.*4706T= (n.*4706T=)
n.76T=
c.1236T= (p.Ala412=)
c.5-7040T= (n.5-7040T=)
c.396T= (p.Ala132=)
c.-98-20801T= (n.-98-20801T=)
n.5059T=
n.5100T=
17g.43070991A>CCA10580505BRCA1c.4920T>G (p.Ala1640=)
c.4923T>G (p.Ala1641=)
c.4797T>G (p.Ala1599=)
c.4917T>G (p.Ala1639=)
c.4845T>G (p.Ala1615=)
c.1611T>G (p.Ala537=)
c.1473T>G (p.Ala491=)
c.4035T>G (p.Ala1345=)
c.4800T>G (p.Ala1600=)
c.4989T>G (p.Ala1663=)
c.4782T>G (p.Ala1594=)
c.1485T>G (p.Ala495=)
c.1530T>G (p.Ala510=)
c.4986T>G (p.Ala1662=)
c.1310T>G
c.1497T>G (p.Ala499=)
c.*4706T>G (n.*4706T>G)
n.76T>G
c.1236T>G (p.Ala412=)
c.5-7040T>G (n.5-7040T>G)
c.396T>G (p.Ala132=)
c.-98-20801T>G (n.-98-20801T>G)
n.5059T>G
n.5100T>G
 ClinVar dbSNP gnomAD v4
17g.43070991A>GCA500231648BRCA1c.4920T>C (p.Ala1640=)
c.4923T>C (p.Ala1641=)
c.4797T>C (p.Ala1599=)
c.4917T>C (p.Ala1639=)
c.4845T>C (p.Ala1615=)
c.1611T>C (p.Ala537=)
c.1473T>C (p.Ala491=)
c.4035T>C (p.Ala1345=)
c.4800T>C (p.Ala1600=)
c.4989T>C (p.Ala1663=)
c.4782T>C (p.Ala1594=)
c.1485T>C (p.Ala495=)
c.1530T>C (p.Ala510=)
c.4986T>C (p.Ala1662=)
c.1310T>C
c.1497T>C (p.Ala499=)
c.*4706T>C (n.*4706T>C)
n.76T>C
c.1236T>C (p.Ala412=)
c.5-7040T>C (n.5-7040T>C)
c.396T>C (p.Ala132=)
c.-98-20801T>C (n.-98-20801T>C)
n.5059T>C
n.5100T>C
 ClinVar dbSNP
17g.43070991A>TCA500231649BRCA1c.4920T>A (p.Ala1640=)
c.4923T>A (p.Ala1641=)
c.4797T>A (p.Ala1599=)
c.4917T>A (p.Ala1639=)
c.4845T>A (p.Ala1615=)
c.1611T>A (p.Ala537=)
c.1473T>A (p.Ala491=)
c.4035T>A (p.Ala1345=)
c.4800T>A (p.Ala1600=)
c.4989T>A (p.Ala1663=)
c.4782T>A (p.Ala1594=)
c.1485T>A (p.Ala495=)
c.1530T>A (p.Ala510=)
c.4986T>A (p.Ala1662=)
c.1310T>A
c.1497T>A (p.Ala499=)
c.*4706T>A (n.*4706T>A)
n.76T>A
c.1236T>A (p.Ala412=)
c.5-7040T>A (n.5-7040T>A)
c.396T>A (p.Ala132=)
c.-98-20801T>A (n.-98-20801T>A)
n.5059T>A
n.5100T>A
 ClinVar dbSNP
17g.43070992G>ACA10591676BRCA1c.4919C>T (p.Ala1640Val)
c.4922C>T (p.Ala1641Val)
c.4796C>T (p.Ala1599Val)
c.4916C>T (p.Ala1639Val)
c.4844C>T (p.Ala1615Val)
c.1610C>T (p.Ala537Val)
c.1472C>T (p.Ala491Val)
c.4034C>T (p.Ala1345Val)
c.4799C>T (p.Ala1600Val)
c.4988C>T (p.Ala1663Val)
c.4781C>T (p.Ala1594Val)
c.1484C>T (p.Ala495Val)
c.1529C>T (p.Ala510Val)
c.4985C>T (p.Ala1662Val)
c.1309C>T
c.1496C>T (p.Ala499Val)
c.*4705C>T (n.*4705C>T)
n.75C>T
c.1235C>T (p.Ala412Val)
c.5-7041C>T (n.5-7041C>T)
c.395C>T (p.Ala132Val)
c.-98-20802C>T (n.-98-20802C>T)
n.5058C>T
n.5099C>T
 ClinVar dbSNP
17g.43070992G>CCA10591677BRCA1c.4919C>G (p.Ala1640Gly)
c.4922C>G (p.Ala1641Gly)
c.4796C>G (p.Ala1599Gly)
c.4916C>G (p.Ala1639Gly)
c.4844C>G (p.Ala1615Gly)
c.1610C>G (p.Ala537Gly)
c.1472C>G (p.Ala491Gly)
c.4034C>G (p.Ala1345Gly)
c.4799C>G (p.Ala1600Gly)
c.4988C>G (p.Ala1663Gly)
c.4781C>G (p.Ala1594Gly)
c.1484C>G (p.Ala495Gly)
c.1529C>G (p.Ala510Gly)
c.4985C>G (p.Ala1662Gly)
c.1309C>G
c.1496C>G (p.Ala499Gly)
c.*4705C>G (n.*4705C>G)
n.75C>G
c.1235C>G (p.Ala412Gly)
c.5-7041C>G (n.5-7041C>G)
c.395C>G (p.Ala132Gly)
c.-98-20802C>G (n.-98-20802C>G)
n.5058C>G
n.5099C>G
 ClinVar dbSNP
17g.43070992G=CA2260772810BRCA1c.4919C= (p.Ala1640=)
c.4922C= (p.Ala1641=)
c.4796C= (p.Ala1599=)
c.4916C= (p.Ala1639=)
c.4844C= (p.Ala1615=)
c.1610C= (p.Ala537=)
c.1472C= (p.Ala491=)
c.4034C= (p.Ala1345=)
c.4799C= (p.Ala1600=)
c.4988C= (p.Ala1663=)
c.4781C= (p.Ala1594=)
c.1484C= (p.Ala495=)
c.1529C= (p.Ala510=)
c.4985C= (p.Ala1662=)
c.1309C=
c.1496C= (p.Ala499=)
c.*4705C= (n.*4705C=)
n.75C=
c.1235C= (p.Ala412=)
c.5-7041C= (n.5-7041C=)
c.395C= (p.Ala132=)
c.-98-20802C= (n.-98-20802C=)
n.5058C=
n.5099C=
17g.43070992G>TCA10591678BRCA1c.4919C>A (p.Ala1640Asp)
c.4922C>A (p.Ala1641Asp)
c.4796C>A (p.Ala1599Asp)
c.4916C>A (p.Ala1639Asp)
c.4844C>A (p.Ala1615Asp)
c.1610C>A (p.Ala537Asp)
c.1472C>A (p.Ala491Asp)
c.4034C>A (p.Ala1345Asp)
c.4799C>A (p.Ala1600Asp)
c.4988C>A (p.Ala1663Asp)
c.4781C>A (p.Ala1594Asp)
c.1484C>A (p.Ala495Asp)
c.1529C>A (p.Ala510Asp)
c.4985C>A (p.Ala1662Asp)
c.1309C>A
c.1496C>A (p.Ala499Asp)
c.*4705C>A (n.*4705C>A)
n.75C>A
c.1235C>A (p.Ala412Asp)
c.5-7041C>A (n.5-7041C>A)
c.395C>A (p.Ala132Asp)
c.-98-20802C>A (n.-98-20802C>A)
n.5058C>A
n.5099C>A
 ClinVar dbSNP
17g.43070992_43070993delinsGCCA2260772809BRCA1c.4918_4919delinsGC (p.Ala1640=)
c.4921_4922delinsGC (p.Ala1641=)
c.4795_4796delinsGC (p.Ala1599=)
c.4915_4916delinsGC (p.Ala1639=)
c.4843_4844delinsGC (p.Ala1615=)
c.1609_1610delinsGC (p.Ala537=)
c.1471_1472delinsGC (p.Ala491=)
c.4033_4034delinsGC (p.Ala1345=)
c.4798_4799delinsGC (p.Ala1600=)
c.4987_4988delinsGC (p.Ala1663=)
c.4780_4781delinsGC (p.Ala1594=)
c.1483_1484delinsGC (p.Ala495=)
c.1528_1529delinsGC (p.Ala510=)
c.4984_4985delinsGC (p.Ala1662=)
c.1308_1309delinsGC
c.1495_1496delinsGC (p.Ala499=)
c.*4704_*4705delinsGC (n.*4704_*4705delinsGC)
n.74_75delinsGC
c.1234_1235delinsGC (p.Ala412=)
c.5-7042_5-7041delinsGC (n.5-7042_5-7041delinsGC)
c.394_395delinsGC (p.Ala132=)
c.-98-20803_-98-20802delinsGC (n.-98-20803_-98-20802delinsGC)
n.5057_5058delinsGC
n.5098_5099delinsGC
17g.43070993delCA10589636BRCA1c.4918del (p.Ala1640LeufsTer17)
c.4921del (p.Ala1641LeufsTer17)
c.4795del (p.Ala1599LeufsTer17)
c.4915del (p.Ala1639LeufsTer17)
c.4843del (p.Ala1615LeufsTer17)
c.1609del (p.Ala537LeufsTer17)
c.1471del (p.Ala491LeufsTer17)
c.4033del (p.Ala1345LeufsTer17)
c.4798del (p.Ala1600LeufsTer17)
c.4987del (p.Ala1663LeufsTer17)
c.4780del (p.Ala1594LeufsTer17)
c.1483del (p.Ala495LeufsTer17)
c.1528del (p.Ala510LeufsTer17)
c.4984del (p.Ala1662LeufsTer17)
c.1308del
c.1495del (p.Ala499LeufsTer17)
c.*4704del (n.*4704del)
n.74del
c.1234del (p.Ala412LeufsTer17)
c.5-7042del (n.5-7042del)
c.394del (p.Ala132LeufsTer17)
c.-98-20803del (n.-98-20803del)
n.5057del
n.5098del
 ClinVar dbSNP
17g.43070993C>ACA10591679BRCA1c.4918G>T (p.Ala1640Ser)
c.4921G>T (p.Ala1641Ser)
c.4795G>T (p.Ala1599Ser)
c.4915G>T (p.Ala1639Ser)
c.4843G>T (p.Ala1615Ser)
c.1609G>T (p.Ala537Ser)
c.1471G>T (p.Ala491Ser)
c.4033G>T (p.Ala1345Ser)
c.4798G>T (p.Ala1600Ser)
c.4987G>T (p.Ala1663Ser)
c.4780G>T (p.Ala1594Ser)
c.1483G>T (p.Ala495Ser)
c.1528G>T (p.Ala510Ser)
c.4984G>T (p.Ala1662Ser)
c.1308G>T
c.1495G>T (p.Ala499Ser)
c.*4704G>T (n.*4704G>T)
n.74G>T
c.1234G>T (p.Ala412Ser)
c.5-7042G>T (n.5-7042G>T)
c.394G>T (p.Ala132Ser)
c.-98-20803G>T (n.-98-20803G>T)
n.5057G>T
n.5098G>T
 ClinVar dbSNP
17g.43070993C=CA2260772811BRCA1c.4918G= (p.Ala1640=)
c.4921G= (p.Ala1641=)
c.4795G= (p.Ala1599=)
c.4915G= (p.Ala1639=)
c.4843G= (p.Ala1615=)
c.1609G= (p.Ala537=)
c.1471G= (p.Ala491=)
c.4033G= (p.Ala1345=)
c.4798G= (p.Ala1600=)
c.4987G= (p.Ala1663=)
c.4780G= (p.Ala1594=)
c.1483G= (p.Ala495=)
c.1528G= (p.Ala510=)
c.4984G= (p.Ala1662=)
c.1308G=
c.1495G= (p.Ala499=)
c.*4704G= (n.*4704G=)
n.74G=
c.1234G= (p.Ala412=)
c.5-7042G= (n.5-7042G=)
c.394G= (p.Ala132=)
c.-98-20803G= (n.-98-20803G=)
n.5057G=
n.5098G=
17g.43070993C>GCA10591680BRCA1c.4918G>C (p.Ala1640Pro)
c.4921G>C (p.Ala1641Pro)
c.4795G>C (p.Ala1599Pro)
c.4915G>C (p.Ala1639Pro)
c.4843G>C (p.Ala1615Pro)
c.1609G>C (p.Ala537Pro)
c.1471G>C (p.Ala491Pro)
c.4033G>C (p.Ala1345Pro)
c.4798G>C (p.Ala1600Pro)
c.4987G>C (p.Ala1663Pro)
c.4780G>C (p.Ala1594Pro)
c.1483G>C (p.Ala495Pro)
c.1528G>C (p.Ala510Pro)
c.4984G>C (p.Ala1662Pro)
c.1308G>C
c.1495G>C (p.Ala499Pro)
c.*4704G>C (n.*4704G>C)
n.74G>C
c.1234G>C (p.Ala412Pro)
c.5-7042G>C (n.5-7042G>C)
c.394G>C (p.Ala132Pro)
c.-98-20803G>C (n.-98-20803G>C)
n.5057G>C
n.5098G>C
 ClinVar dbSNP
17g.43070993C>TCA003079BRCA1c.4918G>A (p.Ala1640Thr)
c.4921G>A (p.Ala1641Thr)
c.4795G>A (p.Ala1599Thr)
c.4915G>A (p.Ala1639Thr)
c.4843G>A (p.Ala1615Thr)
c.1609G>A (p.Ala537Thr)
c.1471G>A (p.Ala491Thr)
c.4033G>A (p.Ala1345Thr)
c.4798G>A (p.Ala1600Thr)
c.4987G>A (p.Ala1663Thr)
c.4780G>A (p.Ala1594Thr)
c.1483G>A (p.Ala495Thr)
c.1528G>A (p.Ala510Thr)
c.4984G>A (p.Ala1662Thr)
c.1308G>A
c.1495G>A (p.Ala499Thr)
c.*4704G>A (n.*4704G>A)
n.74G>A
c.1234G>A (p.Ala412Thr)
c.5-7042G>A (n.5-7042G>A)
c.394G>A (p.Ala132Thr)
c.-98-20803G>A (n.-98-20803G>A)
n.5057G>A
n.5098G>A
 ClinVar dbSNP
17g.43070994T>ACA500231660BRCA1c.4917A>T (p.Thr1639=)
c.4920A>T (p.Thr1640=)
c.4794A>T (p.Thr1598=)
c.4914A>T (p.Thr1638=)
c.4842A>T (p.Thr1614=)
c.1608A>T (p.Thr536=)
c.1470A>T (p.Thr490=)
c.4032A>T (p.Thr1344=)
c.4797A>T (p.Thr1599=)
c.4986A>T (p.Thr1662=)
c.4779A>T (p.Thr1593=)
c.1482A>T (p.Thr494=)
c.1527A>T (p.Thr509=)
c.4983A>T (p.Thr1661=)
c.1307A>T
c.1494A>T (p.Thr498=)
c.*4703A>T (n.*4703A>T)
n.73A>T
c.1233A>T (p.Thr411=)
c.5-7043A>T (n.5-7043A>T)
c.393A>T (p.Thr131=)
c.-98-20804A>T (n.-98-20804A>T)
n.5056A>T
n.5097A>T
 ClinVar dbSNP
17g.43070994T>CCA500231661BRCA1c.4917A>G (p.Thr1639=)
c.4920A>G (p.Thr1640=)
c.4794A>G (p.Thr1598=)
c.4914A>G (p.Thr1638=)
c.4842A>G (p.Thr1614=)
c.1608A>G (p.Thr536=)
c.1470A>G (p.Thr490=)
c.4032A>G (p.Thr1344=)
c.4797A>G (p.Thr1599=)
c.4986A>G (p.Thr1662=)
c.4779A>G (p.Thr1593=)
c.1482A>G (p.Thr494=)
c.1527A>G (p.Thr509=)
c.4983A>G (p.Thr1661=)
c.1307A>G
c.1494A>G (p.Thr498=)
c.*4703A>G (n.*4703A>G)
n.73A>G
c.1233A>G (p.Thr411=)
c.5-7043A>G (n.5-7043A>G)
c.393A>G (p.Thr131=)
c.-98-20804A>G (n.-98-20804A>G)
n.5056A>G
n.5097A>G
 ClinVar dbSNP
17g.43070994T>GCA500231662BRCA1c.4917A>C (p.Thr1639=)
c.4920A>C (p.Thr1640=)
c.4794A>C (p.Thr1598=)
c.4914A>C (p.Thr1638=)
c.4842A>C (p.Thr1614=)
c.1608A>C (p.Thr536=)
c.1470A>C (p.Thr490=)
c.4032A>C (p.Thr1344=)
c.4797A>C (p.Thr1599=)
c.4986A>C (p.Thr1662=)
c.4779A>C (p.Thr1593=)
c.1482A>C (p.Thr494=)
c.1527A>C (p.Thr509=)
c.4983A>C (p.Thr1661=)
c.1307A>C
c.1494A>C (p.Thr498=)
c.*4703A>C (n.*4703A>C)
n.73A>C
c.1233A>C (p.Thr411=)
c.5-7043A>C (n.5-7043A>C)
c.393A>C (p.Thr131=)
c.-98-20804A>C (n.-98-20804A>C)
n.5056A>C
n.5097A>C
 ClinVar dbSNP COSMIC
17g.43070994T=CA2260772813BRCA1c.4917A= (p.Thr1639=)
c.4920A= (p.Thr1640=)
c.4794A= (p.Thr1598=)
c.4914A= (p.Thr1638=)
c.4842A= (p.Thr1614=)
c.1608A= (p.Thr536=)
c.1470A= (p.Thr490=)
c.4032A= (p.Thr1344=)
c.4797A= (p.Thr1599=)
c.4986A= (p.Thr1662=)
c.4779A= (p.Thr1593=)
c.1482A= (p.Thr494=)
c.1527A= (p.Thr509=)
c.4983A= (p.Thr1661=)
c.1307A=
c.1494A= (p.Thr498=)
c.*4703A= (n.*4703A=)
n.73A=
c.1233A= (p.Thr411=)
c.5-7043A= (n.5-7043A=)
c.393A= (p.Thr131=)
c.-98-20804A= (n.-98-20804A=)
n.5056A=
n.5097A=
17g.43070994_43071013delinsTGTCAATTCTGGCTTCTCCCCA2260772812BRCA1c.4898_4917delinsGGGAGAAGCCAGAATTGACA (p.Arg1633=)
c.4901_4920delinsGGGAGAAGCCAGAATTGACA (p.Arg1634=)
c.4775_4794delinsGGGAGAAGCCAGAATTGACA (p.Arg1592=)
c.4895_4914delinsGGGAGAAGCCAGAATTGACA (p.Arg1632=)
c.4823_4842delinsGGGAGAAGCCAGAATTGACA (p.Arg1608=)
c.1589_1608delinsGGGAGAAGCCAGAATTGACA (p.Arg530=)
c.1451_1470delinsGGGAGAAGCCAGAATTGACA (p.Arg484=)
c.4013_4032delinsGGGAGAAGCCAGAATTGACA (p.Arg1338=)
c.4778_4797delinsGGGAGAAGCCAGAATTGACA (p.Arg1593=)
c.4967_4986delinsGGGAGAAGCCAGAATTGACA (p.Arg1656=)
c.4760_4779delinsGGGAGAAGCCAGAATTGACA (p.Arg1587=)
c.1463_1482delinsGGGAGAAGCCAGAATTGACA (p.Arg488=)
c.1508_1527delinsGGGAGAAGCCAGAATTGACA (p.Arg503=)
c.4964_4983delinsGGGAGAAGCCAGAATTGACA (p.Arg1655=)
c.1288_1307delinsGGGAGAAGCCAGAATTGACA
c.1475_1494delinsGGGAGAAGCCAGAATTGACA (p.Arg492=)
c.*4684_*4703delinsGGGAGAAGCCAGAATTGACA (n.*4684_*4703delinsGGGAGAAGCCAGAATTGACA)
n.54_73delinsGGGAGAAGCCAGAATTGACA
c.1214_1233delinsGGGAGAAGCCAGAATTGACA (p.Arg405=)
c.5-7062_5-7043delinsGGGAGAAGCCAGAATTGACA (n.5-7062_5-7043delinsGGGAGAAGCCAGAATTGACA)
c.374_393delinsGGGAGAAGCCAGAATTGACA (p.Arg125=)
c.-98-20823_-98-20804delinsGGGAGAAGCCAGAATTGACA (n.-98-20823_-98-20804delinsGGGAGAAGCCAGAATTGACA)
n.5037_5056delinsGGGAGAAGCCAGAATTGACA
n.5078_5097delinsGGGAGAAGCCAGAATTGACA
17g.43070995G>ACA10591681BRCA1c.4916C>T (p.Thr1639Ile)
c.4919C>T (p.Thr1640Ile)
c.4793C>T (p.Thr1598Ile)
c.4913C>T (p.Thr1638Ile)
c.4841C>T (p.Thr1614Ile)
c.1607C>T (p.Thr536Ile)
c.1469C>T (p.Thr490Ile)
c.4031C>T (p.Thr1344Ile)
c.4796C>T (p.Thr1599Ile)
c.4985C>T (p.Thr1662Ile)
c.4778C>T (p.Thr1593Ile)
c.1481C>T (p.Thr494Ile)
c.1526C>T (p.Thr509Ile)
c.4982C>T (p.Thr1661Ile)
c.1306C>T
c.1493C>T (p.Thr498Ile)
c.*4702C>T (n.*4702C>T)
n.72C>T
c.1232C>T (p.Thr411Ile)
c.5-7044C>T (n.5-7044C>T)
c.392C>T (p.Thr131Ile)
c.-98-20805C>T (n.-98-20805C>T)
n.5055C>T
n.5096C>T
 ClinVar dbSNP
17g.43070995G>CCA10591682BRCA1c.4916C>G (p.Thr1639Arg)
c.4919C>G (p.Thr1640Arg)
c.4793C>G (p.Thr1598Arg)
c.4913C>G (p.Thr1638Arg)
c.4841C>G (p.Thr1614Arg)
c.1607C>G (p.Thr536Arg)
c.1469C>G (p.Thr490Arg)
c.4031C>G (p.Thr1344Arg)
c.4796C>G (p.Thr1599Arg)
c.4985C>G (p.Thr1662Arg)
c.4778C>G (p.Thr1593Arg)
c.1481C>G (p.Thr494Arg)
c.1526C>G (p.Thr509Arg)
c.4982C>G (p.Thr1661Arg)
c.1306C>G
c.1493C>G (p.Thr498Arg)
c.*4702C>G (n.*4702C>G)
n.72C>G
c.1232C>G (p.Thr411Arg)
c.5-7044C>G (n.5-7044C>G)
c.392C>G (p.Thr131Arg)
c.-98-20805C>G (n.-98-20805C>G)
n.5055C>G
n.5096C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43070995G=CA2260772814BRCA1c.4916C= (p.Thr1639=)
c.4919C= (p.Thr1640=)
c.4793C= (p.Thr1598=)
c.4913C= (p.Thr1638=)
c.4841C= (p.Thr1614=)
c.1607C= (p.Thr536=)
c.1469C= (p.Thr490=)
c.4031C= (p.Thr1344=)
c.4796C= (p.Thr1599=)
c.4985C= (p.Thr1662=)
c.4778C= (p.Thr1593=)
c.1481C= (p.Thr494=)
c.1526C= (p.Thr509=)
c.4982C= (p.Thr1661=)
c.1306C=
c.1493C= (p.Thr498=)
c.*4702C= (n.*4702C=)
n.72C=
c.1232C= (p.Thr411=)
c.5-7044C= (n.5-7044C=)
c.392C= (p.Thr131=)
c.-98-20805C= (n.-98-20805C=)
n.5055C=
n.5096C=
17g.43070995G>TCA10591683BRCA1c.4916C>A (p.Thr1639Lys)
c.4919C>A (p.Thr1640Lys)
c.4793C>A (p.Thr1598Lys)
c.4913C>A (p.Thr1638Lys)
c.4841C>A (p.Thr1614Lys)
c.1607C>A (p.Thr536Lys)
c.1469C>A (p.Thr490Lys)
c.4031C>A (p.Thr1344Lys)
c.4796C>A (p.Thr1599Lys)
c.4985C>A (p.Thr1662Lys)
c.4778C>A (p.Thr1593Lys)
c.1481C>A (p.Thr494Lys)
c.1526C>A (p.Thr509Lys)
c.4982C>A (p.Thr1661Lys)
c.1306C>A
c.1493C>A (p.Thr498Lys)
c.*4702C>A (n.*4702C>A)
n.72C>A
c.1232C>A (p.Thr411Lys)
c.5-7044C>A (n.5-7044C>A)
c.392C>A (p.Thr131Lys)
c.-98-20805C>A (n.-98-20805C>A)
n.5055C>A
n.5096C>A
 ClinVar dbSNP
17g.43070995_43071013delCA645373141BRCA1c.4898_4916del (p.Arg1633LysfsTer18)
c.4901_4919del (p.Arg1634LysfsTer18)
c.4775_4793del (p.Arg1592LysfsTer18)
c.4895_4913del (p.Arg1632LysfsTer18)
c.4823_4841del (p.Arg1608LysfsTer18)
c.1589_1607del (p.Arg530LysfsTer18)
c.1451_1469del (p.Arg484LysfsTer18)
c.4013_4031del (p.Arg1338LysfsTer18)
c.4778_4796del (p.Arg1593LysfsTer18)
c.4967_4985del (p.Arg1656LysfsTer18)
c.4760_4778del (p.Arg1587LysfsTer18)
c.1463_1481del (p.Arg488LysfsTer18)
c.1508_1526del (p.Arg503LysfsTer18)
c.4964_4982del (p.Arg1655LysfsTer18)
c.1288_1306del
c.1475_1493del (p.Arg492LysfsTer18)
c.*4684_*4702del (n.*4684_*4702del)
n.54_72del
c.1214_1232del (p.Arg405LysfsTer18)
c.5-7062_5-7044del (n.5-7062_5-7044del)
c.374_392del (p.Arg125LysfsTer18)
c.-98-20823_-98-20805del (n.-98-20823_-98-20805del)
n.5037_5055del
n.5078_5096del
 ClinVar dbSNP
17g.43070995_43070996insGTCAATTCTGGCTTCTCCCCA919844186BRCA1c.4915_4916insGGGAGAAGCCAGAATTGAC (p.Thr1639ArgfsTer?)
c.4918_4919insGGGAGAAGCCAGAATTGAC (p.Thr1640ArgfsTer?)
c.4792_4793insGGGAGAAGCCAGAATTGAC (p.Thr1598ArgfsTer?)
c.4912_4913insGGGAGAAGCCAGAATTGAC (p.Thr1638ArgfsTer?)
c.4840_4841insGGGAGAAGCCAGAATTGAC (p.Thr1614ArgfsTer?)
c.1606_1607insGGGAGAAGCCAGAATTGAC (p.Thr536ArgfsTer?)
c.1468_1469insGGGAGAAGCCAGAATTGAC (p.Thr490ArgfsTer?)
c.4030_4031insGGGAGAAGCCAGAATTGAC (p.Thr1344ArgfsTer?)
c.4795_4796insGGGAGAAGCCAGAATTGAC (p.Thr1599ArgfsTer?)
c.4984_4985insGGGAGAAGCCAGAATTGAC (p.Thr1662ArgfsTer?)
c.4777_4778insGGGAGAAGCCAGAATTGAC (p.Thr1593ArgfsTer?)
c.1480_1481insGGGAGAAGCCAGAATTGAC (p.Thr494ArgfsTer?)
c.1525_1526insGGGAGAAGCCAGAATTGAC (p.Thr509ArgfsTer?)
c.4981_4982insGGGAGAAGCCAGAATTGAC (p.Thr1661ArgfsTer?)
c.1305_1306insGGGAGAAGCCAGAATTGAC
c.1492_1493insGGGAGAAGCCAGAATTGAC (p.Thr498ArgfsTer?)
c.*4701_*4702insGGGAGAAGCCAGAATTGAC (n.*4701_*4702insGGGAGAAGCCAGAATTGAC)
n.71_72insGGGAGAAGCCAGAATTGAC
c.1231_1232insGGGAGAAGCCAGAATTGAC (p.Thr411ArgfsTer?)
c.5-7045_5-7044insGGGAGAAGCCAGAATTGAC (n.5-7045_5-7044insGGGAGAAGCCAGAATTGAC)
c.391_392insGGGAGAAGCCAGAATTGAC (p.Thr131ArgfsTer?)
c.-98-20806_-98-20805insGGGAGAAGCCAGAATTGAC (n.-98-20806_-98-20805insGGGAGAAGCCAGAATTGAC)
n.5054_5055insGGGAGAAGCCAGAATTGAC
n.5095_5096insGGGAGAAGCCAGAATTGAC
 dbSNP
17g.43070996T>ACA10591684BRCA1c.4915A>T (p.Thr1639Ser)
c.4918A>T (p.Thr1640Ser)
c.4792A>T (p.Thr1598Ser)
c.4912A>T (p.Thr1638Ser)
c.4840A>T (p.Thr1614Ser)
c.1606A>T (p.Thr536Ser)
c.1468A>T (p.Thr490Ser)
c.4030A>T (p.Thr1344Ser)
c.4795A>T (p.Thr1599Ser)
c.4984A>T (p.Thr1662Ser)
c.4777A>T (p.Thr1593Ser)
c.1480A>T (p.Thr494Ser)
c.1525A>T (p.Thr509Ser)
c.4981A>T (p.Thr1661Ser)
c.1305A>T
c.1492A>T (p.Thr498Ser)
c.*4701A>T (n.*4701A>T)
n.71A>T
c.1231A>T (p.Thr411Ser)
c.5-7045A>T (n.5-7045A>T)
c.391A>T (p.Thr131Ser)
c.-98-20806A>T (n.-98-20806A>T)
n.5054A>T
n.5095A>T
 ClinVar dbSNP
17g.43070996T>CCA10591685BRCA1c.4915A>G (p.Thr1639Ala)
c.4918A>G (p.Thr1640Ala)
c.4792A>G (p.Thr1598Ala)
c.4912A>G (p.Thr1638Ala)
c.4840A>G (p.Thr1614Ala)
c.1606A>G (p.Thr536Ala)
c.1468A>G (p.Thr490Ala)
c.4030A>G (p.Thr1344Ala)
c.4795A>G (p.Thr1599Ala)
c.4984A>G (p.Thr1662Ala)
c.4777A>G (p.Thr1593Ala)
c.1480A>G (p.Thr494Ala)
c.1525A>G (p.Thr509Ala)
c.4981A>G (p.Thr1661Ala)
c.1305A>G
c.1492A>G (p.Thr498Ala)
c.*4701A>G (n.*4701A>G)
n.71A>G
c.1231A>G (p.Thr411Ala)
c.5-7045A>G (n.5-7045A>G)
c.391A>G (p.Thr131Ala)
c.-98-20806A>G (n.-98-20806A>G)
n.5054A>G
n.5095A>G
 ClinVar dbSNP
17g.43070996T>GCA10591686BRCA1c.4915A>C (p.Thr1639Pro)
c.4918A>C (p.Thr1640Pro)
c.4792A>C (p.Thr1598Pro)
c.4912A>C (p.Thr1638Pro)
c.4840A>C (p.Thr1614Pro)
c.1606A>C (p.Thr536Pro)
c.1468A>C (p.Thr490Pro)
c.4030A>C (p.Thr1344Pro)
c.4795A>C (p.Thr1599Pro)
c.4984A>C (p.Thr1662Pro)
c.4777A>C (p.Thr1593Pro)
c.1480A>C (p.Thr494Pro)
c.1525A>C (p.Thr509Pro)
c.4981A>C (p.Thr1661Pro)
c.1305A>C
c.1492A>C (p.Thr498Pro)
c.*4701A>C (n.*4701A>C)
n.71A>C
c.1231A>C (p.Thr411Pro)
c.5-7045A>C (n.5-7045A>C)
c.391A>C (p.Thr131Pro)
c.-98-20806A>C (n.-98-20806A>C)
n.5054A>C
n.5095A>C
 ClinVar dbSNP
17g.43070996T=CA2260772815BRCA1c.4915A= (p.Thr1639=)
c.4918A= (p.Thr1640=)
c.4792A= (p.Thr1598=)
c.4912A= (p.Thr1638=)
c.4840A= (p.Thr1614=)
c.1606A= (p.Thr536=)
c.1468A= (p.Thr490=)
c.4030A= (p.Thr1344=)
c.4795A= (p.Thr1599=)
c.4984A= (p.Thr1662=)
c.4777A= (p.Thr1593=)
c.1480A= (p.Thr494=)
c.1525A= (p.Thr509=)
c.4981A= (p.Thr1661=)
c.1305A=
c.1492A= (p.Thr498=)
c.*4701A= (n.*4701A=)
n.71A=
c.1231A= (p.Thr411=)
c.5-7045A= (n.5-7045A=)
c.391A= (p.Thr131=)
c.-98-20806A= (n.-98-20806A=)
n.5054A=
n.5095A=
17g.43070997C>ACA10591687BRCA1c.4914G>T (p.Leu1638Phe)
c.4917G>T (p.Leu1639Phe)
c.4791G>T (p.Leu1597Phe)
c.4911G>T (p.Leu1637Phe)
c.4839G>T (p.Leu1613Phe)
c.1605G>T (p.Leu535Phe)
c.1467G>T (p.Leu489Phe)
c.4029G>T (p.Leu1343Phe)
c.4794G>T (p.Leu1598Phe)
c.4983G>T (p.Leu1661Phe)
c.4776G>T (p.Leu1592Phe)
c.1479G>T (p.Leu493Phe)
c.1524G>T (p.Leu508Phe)
c.4980G>T (p.Leu1660Phe)
c.1304G>T
c.1491G>T (p.Leu497Phe)
c.*4700G>T (n.*4700G>T)
n.70G>T
c.1230G>T (p.Leu410Phe)
c.5-7046G>T (n.5-7046G>T)
c.390G>T (p.Leu130Phe)
c.-98-20807G>T (n.-98-20807G>T)
n.5053G>T
n.5094G>T
 ClinVar dbSNP
17g.43070997C=CA2260772816BRCA1c.4914G= (p.Leu1638=)
c.4917G= (p.Leu1639=)
c.4791G= (p.Leu1597=)
c.4911G= (p.Leu1637=)
c.4839G= (p.Leu1613=)
c.1605G= (p.Leu535=)
c.1467G= (p.Leu489=)
c.4029G= (p.Leu1343=)
c.4794G= (p.Leu1598=)
c.4983G= (p.Leu1661=)
c.4776G= (p.Leu1592=)
c.1479G= (p.Leu493=)
c.1524G= (p.Leu508=)
c.4980G= (p.Leu1660=)
c.1304G=
c.1491G= (p.Leu497=)
c.*4700G= (n.*4700G=)
n.70G=
c.1230G= (p.Leu410=)
c.5-7046G= (n.5-7046G=)
c.390G= (p.Leu130=)
c.-98-20807G= (n.-98-20807G=)
n.5053G=
n.5094G=
17g.43070997C>GCA10591688BRCA1c.4914G>C (p.Leu1638Phe)
c.4917G>C (p.Leu1639Phe)
c.4791G>C (p.Leu1597Phe)
c.4911G>C (p.Leu1637Phe)
c.4839G>C (p.Leu1613Phe)
c.1605G>C (p.Leu535Phe)
c.1467G>C (p.Leu489Phe)
c.4029G>C (p.Leu1343Phe)
c.4794G>C (p.Leu1598Phe)
c.4983G>C (p.Leu1661Phe)
c.4776G>C (p.Leu1592Phe)
c.1479G>C (p.Leu493Phe)
c.1524G>C (p.Leu508Phe)
c.4980G>C (p.Leu1660Phe)
c.1304G>C
c.1491G>C (p.Leu497Phe)
c.*4700G>C (n.*4700G>C)
n.70G>C
c.1230G>C (p.Leu410Phe)
c.5-7046G>C (n.5-7046G>C)
c.390G>C (p.Leu130Phe)
c.-98-20807G>C (n.-98-20807G>C)
n.5053G>C
n.5094G>C
 ClinVar dbSNP gnomAD v4
17g.43070997C>TCA16615754BRCA1c.4914G>A (p.Leu1638=)
c.4917G>A (p.Leu1639=)
c.4791G>A (p.Leu1597=)
c.4911G>A (p.Leu1637=)
c.4839G>A (p.Leu1613=)
c.1605G>A (p.Leu535=)
c.1467G>A (p.Leu489=)
c.4029G>A (p.Leu1343=)
c.4794G>A (p.Leu1598=)
c.4983G>A (p.Leu1661=)
c.4776G>A (p.Leu1592=)
c.1479G>A (p.Leu493=)
c.1524G>A (p.Leu508=)
c.4980G>A (p.Leu1660=)
c.1304G>A
c.1491G>A (p.Leu497=)
c.*4700G>A (n.*4700G>A)
n.70G>A
c.1230G>A (p.Leu410=)
c.5-7046G>A (n.5-7046G>A)
c.390G>A (p.Leu130=)
c.-98-20807G>A (n.-98-20807G>A)
n.5053G>A
n.5094G>A
 ClinVar dbSNP
17g.43070998A=CA2260772817BRCA1c.4913T= (p.Leu1638=)
c.4916T= (p.Leu1639=)
c.4790T= (p.Leu1597=)
c.4910T= (p.Leu1637=)
c.4838T= (p.Leu1613=)
c.1604T= (p.Leu535=)
c.1466T= (p.Leu489=)
c.4028T= (p.Leu1343=)
c.4793T= (p.Leu1598=)
c.4982T= (p.Leu1661=)
c.4775T= (p.Leu1592=)
c.1478T= (p.Leu493=)
c.1523T= (p.Leu508=)
c.4979T= (p.Leu1660=)
c.1303T=
c.1490T= (p.Leu497=)
c.*4699T= (n.*4699T=)
n.69T=
c.1229T= (p.Leu410=)
c.5-7047T= (n.5-7047T=)
c.389T= (p.Leu130=)
c.-98-20808T= (n.-98-20808T=)
n.5052T=
n.5093T=
17g.43070998A>CCA10591689BRCA1c.4913T>G (p.Leu1638Trp)
c.4916T>G (p.Leu1639Trp)
c.4790T>G (p.Leu1597Trp)
c.4910T>G (p.Leu1637Trp)
c.4838T>G (p.Leu1613Trp)
c.1604T>G (p.Leu535Trp)
c.1466T>G (p.Leu489Trp)
c.4028T>G (p.Leu1343Trp)
c.4793T>G (p.Leu1598Trp)
c.4982T>G (p.Leu1661Trp)
c.4775T>G (p.Leu1592Trp)
c.1478T>G (p.Leu493Trp)
c.1523T>G (p.Leu508Trp)
c.4979T>G (p.Leu1660Trp)
c.1303T>G
c.1490T>G (p.Leu497Trp)
c.*4699T>G (n.*4699T>G)
n.69T>G
c.1229T>G (p.Leu410Trp)
c.5-7047T>G (n.5-7047T>G)
c.389T>G (p.Leu130Trp)
c.-98-20808T>G (n.-98-20808T>G)
n.5052T>G
n.5093T>G
 ClinVar dbSNP
17g.43070998A>GCA10591690BRCA1c.4913T>C (p.Leu1638Ser)
c.4916T>C (p.Leu1639Ser)
c.4790T>C (p.Leu1597Ser)
c.4910T>C (p.Leu1637Ser)
c.4838T>C (p.Leu1613Ser)
c.1604T>C (p.Leu535Ser)
c.1466T>C (p.Leu489Ser)
c.4028T>C (p.Leu1343Ser)
c.4793T>C (p.Leu1598Ser)
c.4982T>C (p.Leu1661Ser)
c.4775T>C (p.Leu1592Ser)
c.1478T>C (p.Leu493Ser)
c.1523T>C (p.Leu508Ser)
c.4979T>C (p.Leu1660Ser)
c.1303T>C
c.1490T>C (p.Leu497Ser)
c.*4699T>C (n.*4699T>C)
n.69T>C
c.1229T>C (p.Leu410Ser)
c.5-7047T>C (n.5-7047T>C)
c.389T>C (p.Leu130Ser)
c.-98-20808T>C (n.-98-20808T>C)
n.5052T>C
n.5093T>C
 ClinVar dbSNP
17g.43070998A>TCA10591691BRCA1c.4913T>A (p.Leu1638Ter)
c.4916T>A (p.Leu1639Ter)
c.4790T>A (p.Leu1597Ter)
c.4910T>A (p.Leu1637Ter)
c.4838T>A (p.Leu1613Ter)
c.1604T>A (p.Leu535Ter)
c.1466T>A (p.Leu489Ter)
c.4028T>A (p.Leu1343Ter)
c.4793T>A (p.Leu1598Ter)
c.4982T>A (p.Leu1661Ter)
c.4775T>A (p.Leu1592Ter)
c.1478T>A (p.Leu493Ter)
c.1523T>A (p.Leu508Ter)
c.4979T>A (p.Leu1660Ter)
c.1303T>A
c.1490T>A (p.Leu497Ter)
c.*4699T>A (n.*4699T>A)
n.69T>A
c.1229T>A (p.Leu410Ter)
c.5-7047T>A (n.5-7047T>A)
c.389T>A (p.Leu130Ter)
c.-98-20808T>A (n.-98-20808T>A)
n.5052T>A
n.5093T>A
 ClinVar dbSNP
17g.43070999A=CA2260772818BRCA1c.4912T= (p.Leu1638=)
c.4915T= (p.Leu1639=)
c.4789T= (p.Leu1597=)
c.4909T= (p.Leu1637=)
c.4837T= (p.Leu1613=)
c.1603T= (p.Leu535=)
c.1465T= (p.Leu489=)
c.4027T= (p.Leu1343=)
c.4792T= (p.Leu1598=)
c.4981T= (p.Leu1661=)
c.4774T= (p.Leu1592=)
c.1477T= (p.Leu493=)
c.1522T= (p.Leu508=)
c.4978T= (p.Leu1660=)
c.1302T=
c.1489T= (p.Leu497=)
c.*4698T= (n.*4698T=)
n.68T=
c.1228T= (p.Leu410=)
c.5-7048T= (n.5-7048T=)
c.388T= (p.Leu130=)
c.-98-20809T= (n.-98-20809T=)
n.5051T=
n.5092T=
17g.43070999A>CCA10591692BRCA1c.4912T>G (p.Leu1638Val)
c.4915T>G (p.Leu1639Val)
c.4789T>G (p.Leu1597Val)
c.4909T>G (p.Leu1637Val)
c.4837T>G (p.Leu1613Val)
c.1603T>G (p.Leu535Val)
c.1465T>G (p.Leu489Val)
c.4027T>G (p.Leu1343Val)
c.4792T>G (p.Leu1598Val)
c.4981T>G (p.Leu1661Val)
c.4774T>G (p.Leu1592Val)
c.1477T>G (p.Leu493Val)
c.1522T>G (p.Leu508Val)
c.4978T>G (p.Leu1660Val)
c.1302T>G
c.1489T>G (p.Leu497Val)
c.*4698T>G (n.*4698T>G)
n.68T>G
c.1228T>G (p.Leu410Val)
c.5-7048T>G (n.5-7048T>G)
c.388T>G (p.Leu130Val)
c.-98-20809T>G (n.-98-20809T>G)
n.5051T>G
n.5092T>G
 ClinVar dbSNP
17g.43070999A>GCA500231674BRCA1c.4912T>C (p.Leu1638=)
c.4915T>C (p.Leu1639=)
c.4789T>C (p.Leu1597=)
c.4909T>C (p.Leu1637=)
c.4837T>C (p.Leu1613=)
c.1603T>C (p.Leu535=)
c.1465T>C (p.Leu489=)
c.4027T>C (p.Leu1343=)
c.4792T>C (p.Leu1598=)
c.4981T>C (p.Leu1661=)
c.4774T>C (p.Leu1592=)
c.1477T>C (p.Leu493=)
c.1522T>C (p.Leu508=)
c.4978T>C (p.Leu1660=)
c.1302T>C
c.1489T>C (p.Leu497=)
c.*4698T>C (n.*4698T>C)
n.68T>C
c.1228T>C (p.Leu410=)
c.5-7048T>C (n.5-7048T>C)
c.388T>C (p.Leu130=)
c.-98-20809T>C (n.-98-20809T>C)
n.5051T>C
n.5092T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43070999A>TCA10591693BRCA1c.4912T>A (p.Leu1638Met)
c.4915T>A (p.Leu1639Met)
c.4789T>A (p.Leu1597Met)
c.4909T>A (p.Leu1637Met)
c.4837T>A (p.Leu1613Met)
c.1603T>A (p.Leu535Met)
c.1465T>A (p.Leu489Met)
c.4027T>A (p.Leu1343Met)
c.4792T>A (p.Leu1598Met)
c.4981T>A (p.Leu1661Met)
c.4774T>A (p.Leu1592Met)
c.1477T>A (p.Leu493Met)
c.1522T>A (p.Leu508Met)
c.4978T>A (p.Leu1660Met)
c.1302T>A
c.1489T>A (p.Leu497Met)
c.*4698T>A (n.*4698T>A)
n.68T>A
c.1228T>A (p.Leu410Met)
c.5-7048T>A (n.5-7048T>A)
c.388T>A (p.Leu130Met)
c.-98-20809T>A (n.-98-20809T>A)
n.5051T>A
n.5092T>A
 ClinVar dbSNP
17g.43071000T>ACA10591694BRCA1c.4911A>T (p.Glu1637Asp)
c.4914A>T (p.Glu1638Asp)
c.4788A>T (p.Glu1596Asp)
c.4908A>T (p.Glu1636Asp)
c.4836A>T (p.Glu1612Asp)
c.1602A>T (p.Glu534Asp)
c.1464A>T (p.Glu488Asp)
c.4026A>T (p.Glu1342Asp)
c.4791A>T (p.Glu1597Asp)
c.4980A>T (p.Glu1660Asp)
c.4773A>T (p.Glu1591Asp)
c.1476A>T (p.Glu492Asp)
c.1521A>T (p.Glu507Asp)
c.4977A>T (p.Glu1659Asp)
c.1301A>T
c.1488A>T (p.Glu496Asp)
c.*4697A>T (n.*4697A>T)
n.67A>T
c.1227A>T (p.Glu409Asp)
c.5-7049A>T (n.5-7049A>T)
c.387A>T (p.Glu129Asp)
c.-98-20810A>T (n.-98-20810A>T)
n.5050A>T
n.5091A>T
 ClinVar dbSNP
17g.43071000T>CCA003078BRCA1c.4911A>G (p.Glu1637=)
c.4914A>G (p.Glu1638=)
c.4788A>G (p.Glu1596=)
c.4908A>G (p.Glu1636=)
c.4836A>G (p.Glu1612=)
c.1602A>G (p.Glu534=)
c.1464A>G (p.Glu488=)
c.4026A>G (p.Glu1342=)
c.4791A>G (p.Glu1597=)
c.4980A>G (p.Glu1660=)
c.4773A>G (p.Glu1591=)
c.1476A>G (p.Glu492=)
c.1521A>G (p.Glu507=)
c.4977A>G (p.Glu1659=)
c.1301A>G
c.1488A>G (p.Glu496=)
c.*4697A>G (n.*4697A>G)
n.67A>G
c.1227A>G (p.Glu409=)
c.5-7049A>G (n.5-7049A>G)
c.387A>G (p.Glu129=)
c.-98-20810A>G (n.-98-20810A>G)
n.5050A>G
n.5091A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43071000T>GCA10591695BRCA1c.4911A>C (p.Glu1637Asp)
c.4914A>C (p.Glu1638Asp)
c.4788A>C (p.Glu1596Asp)
c.4908A>C (p.Glu1636Asp)
c.4836A>C (p.Glu1612Asp)
c.1602A>C (p.Glu534Asp)
c.1464A>C (p.Glu488Asp)
c.4026A>C (p.Glu1342Asp)
c.4791A>C (p.Glu1597Asp)
c.4980A>C (p.Glu1660Asp)
c.4773A>C (p.Glu1591Asp)
c.1476A>C (p.Glu492Asp)
c.1521A>C (p.Glu507Asp)
c.4977A>C (p.Glu1659Asp)
c.1301A>C
c.1488A>C (p.Glu496Asp)
c.*4697A>C (n.*4697A>C)
n.67A>C
c.1227A>C (p.Glu409Asp)
c.5-7049A>C (n.5-7049A>C)
c.387A>C (p.Glu129Asp)
c.-98-20810A>C (n.-98-20810A>C)
n.5050A>C
n.5091A>C
 ClinVar dbSNP COSMIC COSMIC
17g.43071000T=CA2260772819BRCA1c.4911A= (p.Glu1637=)
c.4914A= (p.Glu1638=)
c.4788A= (p.Glu1596=)
c.4908A= (p.Glu1636=)
c.4836A= (p.Glu1612=)
c.1602A= (p.Glu534=)
c.1464A= (p.Glu488=)
c.4026A= (p.Glu1342=)
c.4791A= (p.Glu1597=)
c.4980A= (p.Glu1660=)
c.4773A= (p.Glu1591=)
c.1476A= (p.Glu492=)
c.1521A= (p.Glu507=)
c.4977A= (p.Glu1659=)
c.1301A=
c.1488A= (p.Glu496=)
c.*4697A= (n.*4697A=)
n.67A=
c.1227A= (p.Glu409=)
c.5-7049A= (n.5-7049A=)
c.387A= (p.Glu129=)
c.-98-20810A= (n.-98-20810A=)
n.5050A=
n.5091A=
17g.43071001T>ACA10591696BRCA1c.4910A>T (p.Glu1637Val)
c.4913A>T (p.Glu1638Val)
c.4787A>T (p.Glu1596Val)
c.4907A>T (p.Glu1636Val)
c.4835A>T (p.Glu1612Val)
c.1601A>T (p.Glu534Val)
c.1463A>T (p.Glu488Val)
c.4025A>T (p.Glu1342Val)
c.4790A>T (p.Glu1597Val)
c.4979A>T (p.Glu1660Val)
c.4772A>T (p.Glu1591Val)
c.1475A>T (p.Glu492Val)
c.1520A>T (p.Glu507Val)
c.4976A>T (p.Glu1659Val)
c.1300A>T
c.1487A>T (p.Glu496Val)
c.*4696A>T (n.*4696A>T)
n.66A>T
c.1226A>T (p.Glu409Val)
c.5-7050A>T (n.5-7050A>T)
c.386A>T (p.Glu129Val)
c.-98-20811A>T (n.-98-20811A>T)
n.5049A>T
n.5090A>T
 ClinVar dbSNP
17g.43071001T>CCA10591697BRCA1c.4910A>G (p.Glu1637Gly)
c.4913A>G (p.Glu1638Gly)
c.4787A>G (p.Glu1596Gly)
c.4907A>G (p.Glu1636Gly)
c.4835A>G (p.Glu1612Gly)
c.1601A>G (p.Glu534Gly)
c.1463A>G (p.Glu488Gly)
c.4025A>G (p.Glu1342Gly)
c.4790A>G (p.Glu1597Gly)
c.4979A>G (p.Glu1660Gly)
c.4772A>G (p.Glu1591Gly)
c.1475A>G (p.Glu492Gly)
c.1520A>G (p.Glu507Gly)
c.4976A>G (p.Glu1659Gly)
c.1300A>G
c.1487A>G (p.Glu496Gly)
c.*4696A>G (n.*4696A>G)
n.66A>G
c.1226A>G (p.Glu409Gly)
c.5-7050A>G (n.5-7050A>G)
c.386A>G (p.Glu129Gly)
c.-98-20811A>G (n.-98-20811A>G)
n.5049A>G
n.5090A>G
 ClinVar dbSNP gnomAD v4
17g.43071001T>GCA10591698BRCA1c.4910A>C (p.Glu1637Ala)
c.4913A>C (p.Glu1638Ala)
c.4787A>C (p.Glu1596Ala)
c.4907A>C (p.Glu1636Ala)
c.4835A>C (p.Glu1612Ala)
c.1601A>C (p.Glu534Ala)
c.1463A>C (p.Glu488Ala)
c.4025A>C (p.Glu1342Ala)
c.4790A>C (p.Glu1597Ala)
c.4979A>C (p.Glu1660Ala)
c.4772A>C (p.Glu1591Ala)
c.1475A>C (p.Glu492Ala)
c.1520A>C (p.Glu507Ala)
c.4976A>C (p.Glu1659Ala)
c.1300A>C
c.1487A>C (p.Glu496Ala)
c.*4696A>C (n.*4696A>C)
n.66A>C
c.1226A>C (p.Glu409Ala)
c.5-7050A>C (n.5-7050A>C)
c.386A>C (p.Glu129Ala)
c.-98-20811A>C (n.-98-20811A>C)
n.5049A>C
n.5090A>C
 ClinVar dbSNP
17g.43071001T=CA2260772820BRCA1c.4910A= (p.Glu1637=)
c.4913A= (p.Glu1638=)
c.4787A= (p.Glu1596=)
c.4907A= (p.Glu1636=)
c.4835A= (p.Glu1612=)
c.1601A= (p.Glu534=)
c.1463A= (p.Glu488=)
c.4025A= (p.Glu1342=)
c.4790A= (p.Glu1597=)
c.4979A= (p.Glu1660=)
c.4772A= (p.Glu1591=)
c.1475A= (p.Glu492=)
c.1520A= (p.Glu507=)
c.4976A= (p.Glu1659=)
c.1300A=
c.1487A= (p.Glu496=)
c.*4696A= (n.*4696A=)
n.66A=
c.1226A= (p.Glu409=)
c.5-7050A= (n.5-7050A=)
c.386A= (p.Glu129=)
c.-98-20811A= (n.-98-20811A=)
n.5049A=
n.5090A=
17g.43071002C>ACA10591699BRCA1c.4909G>T (p.Glu1637Ter)
c.4912G>T (p.Glu1638Ter)
c.4786G>T (p.Glu1596Ter)
c.4906G>T (p.Glu1636Ter)
c.4834G>T (p.Glu1612Ter)
c.1600G>T (p.Glu534Ter)
c.1462G>T (p.Glu488Ter)
c.4024G>T (p.Glu1342Ter)
c.4789G>T (p.Glu1597Ter)
c.4978G>T (p.Glu1660Ter)
c.4771G>T (p.Glu1591Ter)
c.1474G>T (p.Glu492Ter)
c.1519G>T (p.Glu507Ter)
c.4975G>T (p.Glu1659Ter)
c.1299G>T
c.1486G>T (p.Glu496Ter)
c.*4695G>T (n.*4695G>T)
n.65G>T
c.1225G>T (p.Glu409Ter)
c.5-7051G>T (n.5-7051G>T)
c.385G>T (p.Glu129Ter)
c.-98-20812G>T (n.-98-20812G>T)
n.5048G>T
n.5089G>T
 ClinVar dbSNP
17g.43071002C=CA2260772821BRCA1c.4909G= (p.Glu1637=)
c.4912G= (p.Glu1638=)
c.4786G= (p.Glu1596=)
c.4906G= (p.Glu1636=)
c.4834G= (p.Glu1612=)
c.1600G= (p.Glu534=)
c.1462G= (p.Glu488=)
c.4024G= (p.Glu1342=)
c.4789G= (p.Glu1597=)
c.4978G= (p.Glu1660=)
c.4771G= (p.Glu1591=)
c.1474G= (p.Glu492=)
c.1519G= (p.Glu507=)
c.4975G= (p.Glu1659=)
c.1299G=
c.1486G= (p.Glu496=)
c.*4695G= (n.*4695G=)
n.65G=
c.1225G= (p.Glu409=)
c.5-7051G= (n.5-7051G=)
c.385G= (p.Glu129=)
c.-98-20812G= (n.-98-20812G=)
n.5048G=
n.5089G=
17g.43071002C>GCA10591700BRCA1c.4909G>C (p.Glu1637Gln)
c.4912G>C (p.Glu1638Gln)
c.4786G>C (p.Glu1596Gln)
c.4906G>C (p.Glu1636Gln)
c.4834G>C (p.Glu1612Gln)
c.1600G>C (p.Glu534Gln)
c.1462G>C (p.Glu488Gln)
c.4024G>C (p.Glu1342Gln)
c.4789G>C (p.Glu1597Gln)
c.4978G>C (p.Glu1660Gln)
c.4771G>C (p.Glu1591Gln)
c.1474G>C (p.Glu492Gln)
c.1519G>C (p.Glu507Gln)
c.4975G>C (p.Glu1659Gln)
c.1299G>C
c.1486G>C (p.Glu496Gln)
c.*4695G>C (n.*4695G>C)
n.65G>C
c.1225G>C (p.Glu409Gln)
c.5-7051G>C (n.5-7051G>C)
c.385G>C (p.Glu129Gln)
c.-98-20812G>C (n.-98-20812G>C)
n.5048G>C
n.5089G>C
 ClinVar dbSNP
17g.43071002C>TCA10591701BRCA1c.4909G>A (p.Glu1637Lys)
c.4912G>A (p.Glu1638Lys)
c.4786G>A (p.Glu1596Lys)
c.4906G>A (p.Glu1636Lys)
c.4834G>A (p.Glu1612Lys)
c.1600G>A (p.Glu534Lys)
c.1462G>A (p.Glu488Lys)
c.4024G>A (p.Glu1342Lys)
c.4789G>A (p.Glu1597Lys)
c.4978G>A (p.Glu1660Lys)
c.4771G>A (p.Glu1591Lys)
c.1474G>A (p.Glu492Lys)
c.1519G>A (p.Glu507Lys)
c.4975G>A (p.Glu1659Lys)
c.1299G>A
c.1486G>A (p.Glu496Lys)
c.*4695G>A (n.*4695G>A)
n.65G>A
c.1225G>A (p.Glu409Lys)
c.5-7051G>A (n.5-7051G>A)
c.385G>A (p.Glu129Lys)
c.-98-20812G>A (n.-98-20812G>A)
n.5048G>A
n.5089G>A
 ClinVar dbSNP
17g.43071003T>ACA500231677BRCA1c.4908A>T (p.Pro1636=)
c.4911A>T (p.Pro1637=)
c.4785A>T (p.Pro1595=)
c.4905A>T (p.Pro1635=)
c.4833A>T (p.Pro1611=)
c.1599A>T (p.Pro533=)
c.1461A>T (p.Pro487=)
c.4023A>T (p.Pro1341=)
c.4788A>T (p.Pro1596=)
c.4977A>T (p.Pro1659=)
c.4770A>T (p.Pro1590=)
c.1473A>T (p.Pro491=)
c.1518A>T (p.Pro506=)
c.4974A>T (p.Pro1658=)
c.1298A>T
c.1485A>T (p.Pro495=)
c.*4694A>T (n.*4694A>T)
n.64A>T
c.1224A>T (p.Pro408=)
c.5-7052A>T (n.5-7052A>T)
c.384A>T (p.Pro128=)
c.-98-20813A>T (n.-98-20813A>T)
n.5047A>T
n.5088A>T
 ClinVar dbSNP
17g.43071003T>CCA500231678BRCA1c.4908A>G (p.Pro1636=)
c.4911A>G (p.Pro1637=)
c.4785A>G (p.Pro1595=)
c.4905A>G (p.Pro1635=)
c.4833A>G (p.Pro1611=)
c.1599A>G (p.Pro533=)
c.1461A>G (p.Pro487=)
c.4023A>G (p.Pro1341=)
c.4788A>G (p.Pro1596=)
c.4977A>G (p.Pro1659=)
c.4770A>G (p.Pro1590=)
c.1473A>G (p.Pro491=)
c.1518A>G (p.Pro506=)
c.4974A>G (p.Pro1658=)
c.1298A>G
c.1485A>G (p.Pro495=)
c.*4694A>G (n.*4694A>G)
n.64A>G
c.1224A>G (p.Pro408=)
c.5-7052A>G (n.5-7052A>G)
c.384A>G (p.Pro128=)
c.-98-20813A>G (n.-98-20813A>G)
n.5047A>G
n.5088A>G
 ClinVar dbSNP COSMIC COSMIC
17g.43071003T>GCA500231679BRCA1c.4908A>C (p.Pro1636=)
c.4911A>C (p.Pro1637=)
c.4785A>C (p.Pro1595=)
c.4905A>C (p.Pro1635=)
c.4833A>C (p.Pro1611=)
c.1599A>C (p.Pro533=)
c.1461A>C (p.Pro487=)
c.4023A>C (p.Pro1341=)
c.4788A>C (p.Pro1596=)
c.4977A>C (p.Pro1659=)
c.4770A>C (p.Pro1590=)
c.1473A>C (p.Pro491=)
c.1518A>C (p.Pro506=)
c.4974A>C (p.Pro1658=)
c.1298A>C
c.1485A>C (p.Pro495=)
c.*4694A>C (n.*4694A>C)
n.64A>C
c.1224A>C (p.Pro408=)
c.5-7052A>C (n.5-7052A>C)
c.384A>C (p.Pro128=)
c.-98-20813A>C (n.-98-20813A>C)
n.5047A>C
n.5088A>C
 ClinVar dbSNP
17g.43071003T=CA2260772823BRCA1c.4908A= (p.Pro1636=)
c.4911A= (p.Pro1637=)
c.4785A= (p.Pro1595=)
c.4905A= (p.Pro1635=)
c.4833A= (p.Pro1611=)
c.1599A= (p.Pro533=)
c.1461A= (p.Pro487=)
c.4023A= (p.Pro1341=)
c.4788A= (p.Pro1596=)
c.4977A= (p.Pro1659=)
c.4770A= (p.Pro1590=)
c.1473A= (p.Pro491=)
c.1518A= (p.Pro506=)
c.4974A= (p.Pro1658=)
c.1298A=
c.1485A= (p.Pro495=)
c.*4694A= (n.*4694A=)
n.64A=
c.1224A= (p.Pro408=)
c.5-7052A= (n.5-7052A=)
c.384A= (p.Pro128=)
c.-98-20813A= (n.-98-20813A=)
n.5047A=
n.5088A=
17g.43071003_43071004delinsTGCA2260772822BRCA1c.4907_4908delinsCA (p.Pro1636=)
c.4910_4911delinsCA (p.Pro1637=)
c.4784_4785delinsCA (p.Pro1595=)
c.4904_4905delinsCA (p.Pro1635=)
c.4832_4833delinsCA (p.Pro1611=)
c.1598_1599delinsCA (p.Pro533=)
c.1460_1461delinsCA (p.Pro487=)
c.4022_4023delinsCA (p.Pro1341=)
c.4787_4788delinsCA (p.Pro1596=)
c.4976_4977delinsCA (p.Pro1659=)
c.4769_4770delinsCA (p.Pro1590=)
c.1472_1473delinsCA (p.Pro491=)
c.1517_1518delinsCA (p.Pro506=)
c.4973_4974delinsCA (p.Pro1658=)
c.1297_1298delinsCA
c.1484_1485delinsCA (p.Pro495=)
c.*4693_*4694delinsCA (n.*4693_*4694delinsCA)
n.63_64delinsCA
c.1223_1224delinsCA (p.Pro408=)
c.5-7053_5-7052delinsCA (n.5-7053_5-7052delinsCA)
c.383_384delinsCA (p.Pro128=)
c.-98-20814_-98-20813delinsCA (n.-98-20814_-98-20813delinsCA)
n.5046_5047delinsCA
n.5087_5088delinsCA
17g.43071004G>ACA003076BRCA1c.4907C>T (p.Pro1636Leu)
c.4910C>T (p.Pro1637Leu)
c.4784C>T (p.Pro1595Leu)
c.4904C>T (p.Pro1635Leu)
c.4832C>T (p.Pro1611Leu)
c.1598C>T (p.Pro533Leu)
c.1460C>T (p.Pro487Leu)
c.4022C>T (p.Pro1341Leu)
c.4787C>T (p.Pro1596Leu)
c.4976C>T (p.Pro1659Leu)
c.4769C>T (p.Pro1590Leu)
c.1472C>T (p.Pro491Leu)
c.1517C>T (p.Pro506Leu)
c.4973C>T (p.Pro1658Leu)
c.1297C>T
c.1484C>T (p.Pro495Leu)
c.*4693C>T (n.*4693C>T)
n.63C>T
c.1223C>T (p.Pro408Leu)
c.5-7053C>T (n.5-7053C>T)
c.383C>T (p.Pro128Leu)
c.-98-20814C>T (n.-98-20814C>T)
n.5046C>T
n.5087C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43071004G>CCA10591702BRCA1c.4907C>G (p.Pro1636Arg)
c.4910C>G (p.Pro1637Arg)
c.4784C>G (p.Pro1595Arg)
c.4904C>G (p.Pro1635Arg)
c.4832C>G (p.Pro1611Arg)
c.1598C>G (p.Pro533Arg)
c.1460C>G (p.Pro487Arg)
c.4022C>G (p.Pro1341Arg)
c.4787C>G (p.Pro1596Arg)
c.4976C>G (p.Pro1659Arg)
c.4769C>G (p.Pro1590Arg)
c.1472C>G (p.Pro491Arg)
c.1517C>G (p.Pro506Arg)
c.4973C>G (p.Pro1658Arg)
c.1297C>G
c.1484C>G (p.Pro495Arg)
c.*4693C>G (n.*4693C>G)
n.63C>G
c.1223C>G (p.Pro408Arg)
c.5-7053C>G (n.5-7053C>G)
c.383C>G (p.Pro128Arg)
c.-98-20814C>G (n.-98-20814C>G)
n.5046C>G
n.5087C>G
 ClinVar dbSNP
17g.43071004G=CA2260772824BRCA1c.4907C= (p.Pro1636=)
c.4910C= (p.Pro1637=)
c.4784C= (p.Pro1595=)
c.4904C= (p.Pro1635=)
c.4832C= (p.Pro1611=)
c.1598C= (p.Pro533=)
c.1460C= (p.Pro487=)
c.4022C= (p.Pro1341=)
c.4787C= (p.Pro1596=)
c.4976C= (p.Pro1659=)
c.4769C= (p.Pro1590=)
c.1472C= (p.Pro491=)
c.1517C= (p.Pro506=)
c.4973C= (p.Pro1658=)
c.1297C=
c.1484C= (p.Pro495=)
c.*4693C= (n.*4693C=)
n.63C=
c.1223C= (p.Pro408=)
c.5-7053C= (n.5-7053C=)
c.383C= (p.Pro128=)
c.-98-20814C= (n.-98-20814C=)
n.5046C=
n.5087C=
17g.43071004G>TCA10591703BRCA1c.4907C>A (p.Pro1636Gln)
c.4910C>A (p.Pro1637Gln)
c.4784C>A (p.Pro1595Gln)
c.4904C>A (p.Pro1635Gln)
c.4832C>A (p.Pro1611Gln)
c.1598C>A (p.Pro533Gln)
c.1460C>A (p.Pro487Gln)
c.4022C>A (p.Pro1341Gln)
c.4787C>A (p.Pro1596Gln)
c.4976C>A (p.Pro1659Gln)
c.4769C>A (p.Pro1590Gln)
c.1472C>A (p.Pro491Gln)
c.1517C>A (p.Pro506Gln)
c.4973C>A (p.Pro1658Gln)
c.1297C>A
c.1484C>A (p.Pro495Gln)
c.*4693C>A (n.*4693C>A)
n.63C>A
c.1223C>A (p.Pro408Gln)
c.5-7053C>A (n.5-7053C>A)
c.383C>A (p.Pro128Gln)
c.-98-20814C>A (n.-98-20814C>A)
n.5046C>A
n.5087C>A
 ClinVar dbSNP
17g.43071005delCA003077BRCA1c.4907del (p.Pro1636GlnfsTer3)
c.4910del (p.Pro1637GlnfsTer3)
c.4784del (p.Pro1595GlnfsTer3)
c.4904del (p.Pro1635GlnfsTer3)
c.4832del (p.Pro1611GlnfsTer3)
c.1598del (p.Pro533GlnfsTer3)
c.1460del (p.Pro487GlnfsTer3)
c.4022del (p.Pro1341GlnfsTer3)
c.4787del (p.Pro1596GlnfsTer3)
c.4976del (p.Pro1659GlnfsTer3)
c.4769del (p.Pro1590GlnfsTer3)
c.1472del (p.Pro491GlnfsTer3)
c.1517del (p.Pro506GlnfsTer3)
c.4973del (p.Pro1658GlnfsTer3)
c.1297del
c.1484del (p.Pro495GlnfsTer3)
c.*4693del (n.*4693del)
n.63del
c.1223del (p.Pro408GlnfsTer3)
c.5-7053del (n.5-7053del)
c.383del (p.Pro128GlnfsTer3)
c.-98-20814del (n.-98-20814del)
n.5046del
n.5087del
 ClinVar dbSNP
17g.43071005G>ACA10580506BRCA1c.4906C>T (p.Pro1636Ser)
c.4909C>T (p.Pro1637Ser)
c.4783C>T (p.Pro1595Ser)
c.4903C>T (p.Pro1635Ser)
c.4831C>T (p.Pro1611Ser)
c.1597C>T (p.Pro533Ser)
c.1459C>T (p.Pro487Ser)
c.4021C>T (p.Pro1341Ser)
c.4786C>T (p.Pro1596Ser)
c.4975C>T (p.Pro1659Ser)
c.4768C>T (p.Pro1590Ser)
c.1471C>T (p.Pro491Ser)
c.1516C>T (p.Pro506Ser)
c.4972C>T (p.Pro1658Ser)
c.1296C>T
c.1483C>T (p.Pro495Ser)
c.*4692C>T (n.*4692C>T)
n.62C>T
c.1222C>T (p.Pro408Ser)
c.5-7054C>T (n.5-7054C>T)
c.382C>T (p.Pro128Ser)
c.-98-20815C>T (n.-98-20815C>T)
n.5045C>T
n.5086C>T
 ClinVar dbSNP
17g.43071005G>CCA10591704BRCA1c.4906C>G (p.Pro1636Ala)
c.4909C>G (p.Pro1637Ala)
c.4783C>G (p.Pro1595Ala)
c.4903C>G (p.Pro1635Ala)
c.4831C>G (p.Pro1611Ala)
c.1597C>G (p.Pro533Ala)
c.1459C>G (p.Pro487Ala)
c.4021C>G (p.Pro1341Ala)
c.4786C>G (p.Pro1596Ala)
c.4975C>G (p.Pro1659Ala)
c.4768C>G (p.Pro1590Ala)
c.1471C>G (p.Pro491Ala)
c.1516C>G (p.Pro506Ala)
c.4972C>G (p.Pro1658Ala)
c.1296C>G
c.1483C>G (p.Pro495Ala)
c.*4692C>G (n.*4692C>G)
n.62C>G
c.1222C>G (p.Pro408Ala)
c.5-7054C>G (n.5-7054C>G)
c.382C>G (p.Pro128Ala)
c.-98-20815C>G (n.-98-20815C>G)
n.5045C>G
n.5086C>G
 ClinVar dbSNP
17g.43071005G=CA2260772825BRCA1c.4906C= (p.Pro1636=)
c.4909C= (p.Pro1637=)
c.4783C= (p.Pro1595=)
c.4903C= (p.Pro1635=)
c.4831C= (p.Pro1611=)
c.1597C= (p.Pro533=)
c.1459C= (p.Pro487=)
c.4021C= (p.Pro1341=)
c.4786C= (p.Pro1596=)
c.4975C= (p.Pro1659=)
c.4768C= (p.Pro1590=)
c.1471C= (p.Pro491=)
c.1516C= (p.Pro506=)
c.4972C= (p.Pro1658=)
c.1296C=
c.1483C= (p.Pro495=)
c.*4692C= (n.*4692C=)
n.62C=
c.1222C= (p.Pro408=)
c.5-7054C= (n.5-7054C=)
c.382C= (p.Pro128=)
c.-98-20815C= (n.-98-20815C=)
n.5045C=
n.5086C=
17g.43071005G>TCA10591705BRCA1c.4906C>A (p.Pro1636Thr)
c.4909C>A (p.Pro1637Thr)
c.4783C>A (p.Pro1595Thr)
c.4903C>A (p.Pro1635Thr)
c.4831C>A (p.Pro1611Thr)
c.1597C>A (p.Pro533Thr)
c.1459C>A (p.Pro487Thr)
c.4021C>A (p.Pro1341Thr)
c.4786C>A (p.Pro1596Thr)
c.4975C>A (p.Pro1659Thr)
c.4768C>A (p.Pro1590Thr)
c.1471C>A (p.Pro491Thr)
c.1516C>A (p.Pro506Thr)
c.4972C>A (p.Pro1658Thr)
c.1296C>A
c.1483C>A (p.Pro495Thr)
c.*4692C>A (n.*4692C>A)
n.62C>A
c.1222C>A (p.Pro408Thr)
c.5-7054C>A (n.5-7054C>A)
c.382C>A (p.Pro128Thr)
c.-98-20815C>A (n.-98-20815C>A)
n.5045C>A
n.5086C>A
 ClinVar dbSNP
17g.43071006C>ACA10591706BRCA1c.4905G>T (p.Lys1635Asn)
c.4908G>T (p.Lys1636Asn)
c.4782G>T (p.Lys1594Asn)
c.4902G>T (p.Lys1634Asn)
c.4830G>T (p.Lys1610Asn)
c.1596G>T (p.Lys532Asn)
c.1458G>T (p.Lys486Asn)
c.4020G>T (p.Lys1340Asn)
c.4785G>T (p.Lys1595Asn)
c.4974G>T (p.Lys1658Asn)
c.4767G>T (p.Lys1589Asn)
c.1470G>T (p.Lys490Asn)
c.1515G>T (p.Lys505Asn)
c.4971G>T (p.Lys1657Asn)
c.1295G>T
c.1482G>T (p.Lys494Asn)
c.*4691G>T (n.*4691G>T)
n.61G>T
c.1221G>T (p.Lys407Asn)
c.5-7055G>T (n.5-7055G>T)
c.381G>T (p.Lys127Asn)
c.-98-20816G>T (n.-98-20816G>T)
n.5044G>T
n.5085G>T
 ClinVar dbSNP
17g.43071006C=CA2260772826BRCA1c.4905G= (p.Lys1635=)
c.4908G= (p.Lys1636=)
c.4782G= (p.Lys1594=)
c.4902G= (p.Lys1634=)
c.4830G= (p.Lys1610=)
c.1596G= (p.Lys532=)
c.1458G= (p.Lys486=)
c.4020G= (p.Lys1340=)
c.4785G= (p.Lys1595=)
c.4974G= (p.Lys1658=)
c.4767G= (p.Lys1589=)
c.1470G= (p.Lys490=)
c.1515G= (p.Lys505=)
c.4971G= (p.Lys1657=)
c.1295G=
c.1482G= (p.Lys494=)
c.*4691G= (n.*4691G=)
n.61G=
c.1221G= (p.Lys407=)
c.5-7055G= (n.5-7055G=)
c.381G= (p.Lys127=)
c.-98-20816G= (n.-98-20816G=)
n.5044G=
n.5085G=
17g.43071006C>GCA10591707BRCA1c.4905G>C (p.Lys1635Asn)
c.4908G>C (p.Lys1636Asn)
c.4782G>C (p.Lys1594Asn)
c.4902G>C (p.Lys1634Asn)
c.4830G>C (p.Lys1610Asn)
c.1596G>C (p.Lys532Asn)
c.1458G>C (p.Lys486Asn)
c.4020G>C (p.Lys1340Asn)
c.4785G>C (p.Lys1595Asn)
c.4974G>C (p.Lys1658Asn)
c.4767G>C (p.Lys1589Asn)
c.1470G>C (p.Lys490Asn)
c.1515G>C (p.Lys505Asn)
c.4971G>C (p.Lys1657Asn)
c.1295G>C
c.1482G>C (p.Lys494Asn)
c.*4691G>C (n.*4691G>C)
n.61G>C
c.1221G>C (p.Lys407Asn)
c.5-7055G>C (n.5-7055G>C)
c.381G>C (p.Lys127Asn)
c.-98-20816G>C (n.-98-20816G>C)
n.5044G>C
n.5085G>C
 ClinVar dbSNP
17g.43071006C>TCA500231688BRCA1c.4905G>A (p.Lys1635=)
c.4908G>A (p.Lys1636=)
c.4782G>A (p.Lys1594=)
c.4902G>A (p.Lys1634=)
c.4830G>A (p.Lys1610=)
c.1596G>A (p.Lys532=)
c.1458G>A (p.Lys486=)
c.4020G>A (p.Lys1340=)
c.4785G>A (p.Lys1595=)
c.4974G>A (p.Lys1658=)
c.4767G>A (p.Lys1589=)
c.1470G>A (p.Lys490=)
c.1515G>A (p.Lys505=)
c.4971G>A (p.Lys1657=)
c.1295G>A
c.1482G>A (p.Lys494=)
c.*4691G>A (n.*4691G>A)
n.61G>A
c.1221G>A (p.Lys407=)
c.5-7055G>A (n.5-7055G>A)
c.381G>A (p.Lys127=)
c.-98-20816G>A (n.-98-20816G>A)
n.5044G>A
n.5085G>A
 ClinVar dbSNP
17g.43071007T>ACA10591708BRCA1c.4904A>T (p.Lys1635Met)
c.4907A>T (p.Lys1636Met)
c.4781A>T (p.Lys1594Met)
c.4901A>T (p.Lys1634Met)
c.4829A>T (p.Lys1610Met)
c.1595A>T (p.Lys532Met)
c.1457A>T (p.Lys486Met)
c.4019A>T (p.Lys1340Met)
c.4784A>T (p.Lys1595Met)
c.4973A>T (p.Lys1658Met)
c.4766A>T (p.Lys1589Met)
c.1469A>T (p.Lys490Met)
c.1514A>T (p.Lys505Met)
c.4970A>T (p.Lys1657Met)
c.1294A>T
c.1481A>T (p.Lys494Met)
c.*4690A>T (n.*4690A>T)
n.60A>T
c.1220A>T (p.Lys407Met)
c.5-7056A>T (n.5-7056A>T)
c.380A>T (p.Lys127Met)
c.-98-20817A>T (n.-98-20817A>T)
n.5043A>T
n.5084A>T
 ClinVar dbSNP
17g.43071007T>CCA10591709BRCA1c.4904A>G (p.Lys1635Arg)
c.4907A>G (p.Lys1636Arg)
c.4781A>G (p.Lys1594Arg)
c.4901A>G (p.Lys1634Arg)
c.4829A>G (p.Lys1610Arg)
c.1595A>G (p.Lys532Arg)
c.1457A>G (p.Lys486Arg)
c.4019A>G (p.Lys1340Arg)
c.4784A>G (p.Lys1595Arg)
c.4973A>G (p.Lys1658Arg)
c.4766A>G (p.Lys1589Arg)
c.1469A>G (p.Lys490Arg)
c.1514A>G (p.Lys505Arg)
c.4970A>G (p.Lys1657Arg)
c.1294A>G
c.1481A>G (p.Lys494Arg)
c.*4690A>G (n.*4690A>G)
n.60A>G
c.1220A>G (p.Lys407Arg)
c.5-7056A>G (n.5-7056A>G)
c.380A>G (p.Lys127Arg)
c.-98-20817A>G (n.-98-20817A>G)
n.5043A>G
n.5084A>G
 ClinVar dbSNP
17g.43071007T>GCA10591710BRCA1c.4904A>C (p.Lys1635Thr)
c.4907A>C (p.Lys1636Thr)
c.4781A>C (p.Lys1594Thr)
c.4901A>C (p.Lys1634Thr)
c.4829A>C (p.Lys1610Thr)
c.1595A>C (p.Lys532Thr)
c.1457A>C (p.Lys486Thr)
c.4019A>C (p.Lys1340Thr)
c.4784A>C (p.Lys1595Thr)
c.4973A>C (p.Lys1658Thr)
c.4766A>C (p.Lys1589Thr)
c.1469A>C (p.Lys490Thr)
c.1514A>C (p.Lys505Thr)
c.4970A>C (p.Lys1657Thr)
c.1294A>C
c.1481A>C (p.Lys494Thr)
c.*4690A>C (n.*4690A>C)
n.60A>C
c.1220A>C (p.Lys407Thr)
c.5-7056A>C (n.5-7056A>C)
c.380A>C (p.Lys127Thr)
c.-98-20817A>C (n.-98-20817A>C)
n.5043A>C
n.5084A>C
 ClinVar dbSNP
17g.43071007T=CA2260772828BRCA1c.4904A= (p.Lys1635=)
c.4907A= (p.Lys1636=)
c.4781A= (p.Lys1594=)
c.4901A= (p.Lys1634=)
c.4829A= (p.Lys1610=)
c.1595A= (p.Lys532=)
c.1457A= (p.Lys486=)
c.4019A= (p.Lys1340=)
c.4784A= (p.Lys1595=)
c.4973A= (p.Lys1658=)
c.4766A= (p.Lys1589=)
c.1469A= (p.Lys490=)
c.1514A= (p.Lys505=)
c.4970A= (p.Lys1657=)
c.1294A=
c.1481A= (p.Lys494=)
c.*4690A= (n.*4690A=)
n.60A=
c.1220A= (p.Lys407=)
c.5-7056A= (n.5-7056A=)
c.380A= (p.Lys127=)
c.-98-20817A= (n.-98-20817A=)
n.5043A=
n.5084A=
17g.43071008delCA2733912920BRCA1c.4904del (p.Lys1635SerfsTer4)
c.4907del (p.Lys1636SerfsTer4)
c.4781del (p.Lys1594SerfsTer4)
c.4901del (p.Lys1634SerfsTer4)
c.4829del (p.Lys1610SerfsTer4)
c.1595del (p.Lys532SerfsTer4)
c.1457del (p.Lys486SerfsTer4)
c.4019del (p.Lys1340SerfsTer4)
c.4784del (p.Lys1595SerfsTer4)
c.4973del (p.Lys1658SerfsTer4)
c.4766del (p.Lys1589SerfsTer4)
c.1469del (p.Lys490SerfsTer4)
c.1514del (p.Lys505SerfsTer4)
c.4970del (p.Lys1657SerfsTer4)
c.1294del
c.1481del (p.Lys494SerfsTer4)
c.*4690del (n.*4690del)
n.60del
c.1220del (p.Lys407SerfsTer4)
c.5-7056del (n.5-7056del)
c.380del (p.Lys127SerfsTer4)
c.-98-20817del (n.-98-20817del)
n.5043del
n.5084del
 dbSNP
17g.43071007_43071009delinsTTCCA2260772827BRCA1c.4902_4904delinsGAA (p.Glu1634=)
c.4905_4907delinsGAA (p.Glu1635=)
c.4779_4781delinsGAA (p.Glu1593=)
c.4899_4901delinsGAA (p.Glu1633=)
c.4827_4829delinsGAA (p.Glu1609=)
c.1593_1595delinsGAA (p.Glu531=)
c.1455_1457delinsGAA (p.Glu485=)
c.4017_4019delinsGAA (p.Glu1339=)
c.4782_4784delinsGAA (p.Glu1594=)
c.4971_4973delinsGAA (p.Glu1657=)
c.4764_4766delinsGAA (p.Glu1588=)
c.1467_1469delinsGAA (p.Glu489=)
c.1512_1514delinsGAA (p.Glu504=)
c.4968_4970delinsGAA (p.Glu1656=)
c.1292_1294delinsGAA
c.1479_1481delinsGAA (p.Glu493=)
c.*4688_*4690delinsGAA (n.*4688_*4690delinsGAA)
n.58_60delinsGAA
c.1218_1220delinsGAA (p.Glu406=)
c.5-7058_5-7056delinsGAA (n.5-7058_5-7056delinsGAA)
c.378_380delinsGAA (p.Glu126=)
c.-98-20819_-98-20817delinsGAA (n.-98-20819_-98-20817delinsGAA)
n.5041_5043delinsGAA
n.5082_5084delinsGAA
17g.43071008T>ACA10591711BRCA1c.4903A>T (p.Lys1635Ter)
c.4906A>T (p.Lys1636Ter)
c.4780A>T (p.Lys1594Ter)
c.4900A>T (p.Lys1634Ter)
c.4828A>T (p.Lys1610Ter)
c.1594A>T (p.Lys532Ter)
c.1456A>T (p.Lys486Ter)
c.4018A>T (p.Lys1340Ter)
c.4783A>T (p.Lys1595Ter)
c.4972A>T (p.Lys1658Ter)
c.4765A>T (p.Lys1589Ter)
c.1468A>T (p.Lys490Ter)
c.1513A>T (p.Lys505Ter)
c.4969A>T (p.Lys1657Ter)
c.1293A>T
c.1480A>T (p.Lys494Ter)
c.*4689A>T (n.*4689A>T)
n.59A>T
c.1219A>T (p.Lys407Ter)
c.5-7057A>T (n.5-7057A>T)
c.379A>T (p.Lys127Ter)
c.-98-20818A>T (n.-98-20818A>T)
n.5042A>T
n.5083A>T
 ClinVar dbSNP
17g.43071008T>CCA10591712BRCA1c.4903A>G (p.Lys1635Glu)
c.4906A>G (p.Lys1636Glu)
c.4780A>G (p.Lys1594Glu)
c.4900A>G (p.Lys1634Glu)
c.4828A>G (p.Lys1610Glu)
c.1594A>G (p.Lys532Glu)
c.1456A>G (p.Lys486Glu)
c.4018A>G (p.Lys1340Glu)
c.4783A>G (p.Lys1595Glu)
c.4972A>G (p.Lys1658Glu)
c.4765A>G (p.Lys1589Glu)
c.1468A>G (p.Lys490Glu)
c.1513A>G (p.Lys505Glu)
c.4969A>G (p.Lys1657Glu)
c.1293A>G
c.1480A>G (p.Lys494Glu)
c.*4689A>G (n.*4689A>G)
n.59A>G
c.1219A>G (p.Lys407Glu)
c.5-7057A>G (n.5-7057A>G)
c.379A>G (p.Lys127Glu)
c.-98-20818A>G (n.-98-20818A>G)
n.5042A>G
n.5083A>G
 ClinVar dbSNP
17g.43071008T>GCA10591713BRCA1c.4903A>C (p.Lys1635Gln)
c.4906A>C (p.Lys1636Gln)
c.4780A>C (p.Lys1594Gln)
c.4900A>C (p.Lys1634Gln)
c.4828A>C (p.Lys1610Gln)
c.1594A>C (p.Lys532Gln)
c.1456A>C (p.Lys486Gln)
c.4018A>C (p.Lys1340Gln)
c.4783A>C (p.Lys1595Gln)
c.4972A>C (p.Lys1658Gln)
c.4765A>C (p.Lys1589Gln)
c.1468A>C (p.Lys490Gln)
c.1513A>C (p.Lys505Gln)
c.4969A>C (p.Lys1657Gln)
c.1293A>C
c.1480A>C (p.Lys494Gln)
c.*4689A>C (n.*4689A>C)
n.59A>C
c.1219A>C (p.Lys407Gln)
c.5-7057A>C (n.5-7057A>C)
c.379A>C (p.Lys127Gln)
c.-98-20818A>C (n.-98-20818A>C)
n.5042A>C
n.5083A>C
 ClinVar dbSNP
17g.43071008T=CA2260772829BRCA1c.4903A= (p.Lys1635=)
c.4906A= (p.Lys1636=)
c.4780A= (p.Lys1594=)
c.4900A= (p.Lys1634=)
c.4828A= (p.Lys1610=)
c.1594A= (p.Lys532=)
c.1456A= (p.Lys486=)
c.4018A= (p.Lys1340=)
c.4783A= (p.Lys1595=)
c.4972A= (p.Lys1658=)
c.4765A= (p.Lys1589=)
c.1468A= (p.Lys490=)
c.1513A= (p.Lys505=)
c.4969A= (p.Lys1657=)
c.1293A=
c.1480A= (p.Lys494=)
c.*4689A= (n.*4689A=)
n.59A=
c.1219A= (p.Lys407=)
c.5-7057A= (n.5-7057A=)
c.379A= (p.Lys127=)
c.-98-20818A= (n.-98-20818A=)
n.5042A=
n.5083A=
17g.43071010_43071011delCA003074BRCA1c.4902_4903del (p.Lys1635AlafsTer?)
c.4905_4906del (p.Lys1636AlafsTer?)
c.4779_4780del (p.Lys1594AlafsTer?)
c.4899_4900del (p.Lys1634AlafsTer?)
c.4827_4828del (p.Lys1610AlafsTer?)
c.1593_1594del (p.Lys532AlafsTer?)
c.1455_1456del (p.Lys486AlafsTer?)
c.4017_4018del (p.Lys1340AlafsTer?)
c.4782_4783del (p.Lys1595AlafsTer?)
c.4971_4972del (p.Lys1658AlafsTer?)
c.4764_4765del (p.Lys1589AlafsTer?)
c.1467_1468del (p.Lys490AlafsTer?)
c.1512_1513del (p.Lys505AlafsTer?)
c.4968_4969del (p.Lys1657AlafsTer?)
c.1292_1293del
c.1479_1480del (p.Lys494AlafsTer?)
c.*4688_*4689del (n.*4688_*4689del)
n.58_59del
c.1218_1219del (p.Lys407AlafsTer?)
c.5-7058_5-7057del (n.5-7058_5-7057del)
c.378_379del (p.Lys127AlafsTer?)
c.-98-20819_-98-20818del (n.-98-20819_-98-20818del)
n.5041_5042del
n.5082_5083del
 ClinVar dbSNP
17g.43071009C>ACA10591714BRCA1c.4902G>T (p.Glu1634Asp)
c.4905G>T (p.Glu1635Asp)
c.4779G>T (p.Glu1593Asp)
c.4899G>T (p.Glu1633Asp)
c.4827G>T (p.Glu1609Asp)
c.1593G>T (p.Glu531Asp)
c.1455G>T (p.Glu485Asp)
c.4017G>T (p.Glu1339Asp)
c.4782G>T (p.Glu1594Asp)
c.4971G>T (p.Glu1657Asp)
c.4764G>T (p.Glu1588Asp)
c.1467G>T (p.Glu489Asp)
c.1512G>T (p.Glu504Asp)
c.4968G>T (p.Glu1656Asp)
c.1292G>T
c.1479G>T (p.Glu493Asp)
c.*4688G>T (n.*4688G>T)
n.58G>T
c.1218G>T (p.Glu406Asp)
c.5-7058G>T (n.5-7058G>T)
c.378G>T (p.Glu126Asp)
c.-98-20819G>T (n.-98-20819G>T)
n.5041G>T
n.5082G>T
 ClinVar dbSNP
17g.43071009C=CA2260772830BRCA1c.4902G= (p.Glu1634=)
c.4905G= (p.Glu1635=)
c.4779G= (p.Glu1593=)
c.4899G= (p.Glu1633=)
c.4827G= (p.Glu1609=)
c.1593G= (p.Glu531=)
c.1455G= (p.Glu485=)
c.4017G= (p.Glu1339=)
c.4782G= (p.Glu1594=)
c.4971G= (p.Glu1657=)
c.4764G= (p.Glu1588=)
c.1467G= (p.Glu489=)
c.1512G= (p.Glu504=)
c.4968G= (p.Glu1656=)
c.1292G=
c.1479G= (p.Glu493=)
c.*4688G= (n.*4688G=)
n.58G=
c.1218G= (p.Glu406=)
c.5-7058G= (n.5-7058G=)
c.378G= (p.Glu126=)
c.-98-20819G= (n.-98-20819G=)
n.5041G=
n.5082G=
17g.43071009C>GCA10591715BRCA1c.4902G>C (p.Glu1634Asp)
c.4905G>C (p.Glu1635Asp)
c.4779G>C (p.Glu1593Asp)
c.4899G>C (p.Glu1633Asp)
c.4827G>C (p.Glu1609Asp)
c.1593G>C (p.Glu531Asp)
c.1455G>C (p.Glu485Asp)
c.4017G>C (p.Glu1339Asp)
c.4782G>C (p.Glu1594Asp)
c.4971G>C (p.Glu1657Asp)
c.4764G>C (p.Glu1588Asp)
c.1467G>C (p.Glu489Asp)
c.1512G>C (p.Glu504Asp)
c.4968G>C (p.Glu1656Asp)
c.1292G>C
c.1479G>C (p.Glu493Asp)
c.*4688G>C (n.*4688G>C)
n.58G>C
c.1218G>C (p.Glu406Asp)
c.5-7058G>C (n.5-7058G>C)
c.378G>C (p.Glu126Asp)
c.-98-20819G>C (n.-98-20819G>C)
n.5041G>C
n.5082G>C
 ClinVar dbSNP
17g.43071009C>TCA500231696BRCA1c.4902G>A (p.Glu1634=)
c.4905G>A (p.Glu1635=)
c.4779G>A (p.Glu1593=)
c.4899G>A (p.Glu1633=)
c.4827G>A (p.Glu1609=)
c.1593G>A (p.Glu531=)
c.1455G>A (p.Glu485=)
c.4017G>A (p.Glu1339=)
c.4782G>A (p.Glu1594=)
c.4971G>A (p.Glu1657=)
c.4764G>A (p.Glu1588=)
c.1467G>A (p.Glu489=)
c.1512G>A (p.Glu504=)
c.4968G>A (p.Glu1656=)
c.1292G>A
c.1479G>A (p.Glu493=)
c.*4688G>A (n.*4688G>A)
n.58G>A
c.1218G>A (p.Glu406=)
c.5-7058G>A (n.5-7058G>A)
c.378G>A (p.Glu126=)
c.-98-20819G>A (n.-98-20819G>A)
n.5041G>A
n.5082G>A
 ClinVar dbSNP COSMIC COSMIC
17g.43071010T>ACA10591716BRCA1c.4901A>T (p.Glu1634Val)
c.4904A>T (p.Glu1635Val)
c.4778A>T (p.Glu1593Val)
c.4898A>T (p.Glu1633Val)
c.4826A>T (p.Glu1609Val)
c.1592A>T (p.Glu531Val)
c.1454A>T (p.Glu485Val)
c.4016A>T (p.Glu1339Val)
c.4781A>T (p.Glu1594Val)
c.4970A>T (p.Glu1657Val)
c.4763A>T (p.Glu1588Val)
c.1466A>T (p.Glu489Val)
c.1511A>T (p.Glu504Val)
c.4967A>T (p.Glu1656Val)
c.1291A>T
c.1478A>T (p.Glu493Val)
c.*4687A>T (n.*4687A>T)
n.57A>T
c.1217A>T (p.Glu406Val)
c.5-7059A>T (n.5-7059A>T)
c.377A>T (p.Glu126Val)
c.-98-20820A>T (n.-98-20820A>T)
n.5040A>T
n.5081A>T
 ClinVar dbSNP
17g.43071010T>CCA10591717BRCA1c.4901A>G (p.Glu1634Gly)
c.4904A>G (p.Glu1635Gly)
c.4778A>G (p.Glu1593Gly)
c.4898A>G (p.Glu1633Gly)
c.4826A>G (p.Glu1609Gly)
c.1592A>G (p.Glu531Gly)
c.1454A>G (p.Glu485Gly)
c.4016A>G (p.Glu1339Gly)
c.4781A>G (p.Glu1594Gly)
c.4970A>G (p.Glu1657Gly)
c.4763A>G (p.Glu1588Gly)
c.1466A>G (p.Glu489Gly)
c.1511A>G (p.Glu504Gly)
c.4967A>G (p.Glu1656Gly)
c.1291A>G
c.1478A>G (p.Glu493Gly)
c.*4687A>G (n.*4687A>G)
n.57A>G
c.1217A>G (p.Glu406Gly)
c.5-7059A>G (n.5-7059A>G)
c.377A>G (p.Glu126Gly)
c.-98-20820A>G (n.-98-20820A>G)
n.5040A>G
n.5081A>G
 ClinVar dbSNP
17g.43071010T>GCA10591718BRCA1c.4901A>C (p.Glu1634Ala)
c.4904A>C (p.Glu1635Ala)
c.4778A>C (p.Glu1593Ala)
c.4898A>C (p.Glu1633Ala)
c.4826A>C (p.Glu1609Ala)
c.1592A>C (p.Glu531Ala)
c.1454A>C (p.Glu485Ala)
c.4016A>C (p.Glu1339Ala)
c.4781A>C (p.Glu1594Ala)
c.4970A>C (p.Glu1657Ala)
c.4763A>C (p.Glu1588Ala)
c.1466A>C (p.Glu489Ala)
c.1511A>C (p.Glu504Ala)
c.4967A>C (p.Glu1656Ala)
c.1291A>C
c.1478A>C (p.Glu493Ala)
c.*4687A>C (n.*4687A>C)
n.57A>C
c.1217A>C (p.Glu406Ala)
c.5-7059A>C (n.5-7059A>C)
c.377A>C (p.Glu126Ala)
c.-98-20820A>C (n.-98-20820A>C)
n.5040A>C
n.5081A>C
 ClinVar dbSNP
17g.43071010T=CA2260772832BRCA1c.4901A= (p.Glu1634=)
c.4904A= (p.Glu1635=)
c.4778A= (p.Glu1593=)
c.4898A= (p.Glu1633=)
c.4826A= (p.Glu1609=)
c.1592A= (p.Glu531=)
c.1454A= (p.Glu485=)
c.4016A= (p.Glu1339=)
c.4781A= (p.Glu1594=)
c.4970A= (p.Glu1657=)
c.4763A= (p.Glu1588=)
c.1466A= (p.Glu489=)
c.1511A= (p.Glu504=)
c.4967A= (p.Glu1656=)
c.1291A=
c.1478A= (p.Glu493=)
c.*4687A= (n.*4687A=)
n.57A=
c.1217A= (p.Glu406=)
c.5-7059A= (n.5-7059A=)
c.377A= (p.Glu126=)
c.-98-20820A= (n.-98-20820A=)
n.5040A=
n.5081A=
17g.43071010_43071011delinsTCCA2260772831BRCA1c.4900_4901delinsGA (p.Glu1634=)
c.4903_4904delinsGA (p.Glu1635=)
c.4777_4778delinsGA (p.Glu1593=)
c.4897_4898delinsGA (p.Glu1633=)
c.4825_4826delinsGA (p.Glu1609=)
c.1591_1592delinsGA (p.Glu531=)
c.1453_1454delinsGA (p.Glu485=)
c.4015_4016delinsGA (p.Glu1339=)
c.4780_4781delinsGA (p.Glu1594=)
c.4969_4970delinsGA (p.Glu1657=)
c.4762_4763delinsGA (p.Glu1588=)
c.1465_1466delinsGA (p.Glu489=)
c.1510_1511delinsGA (p.Glu504=)
c.4966_4967delinsGA (p.Glu1656=)
c.1290_1291delinsGA
c.1477_1478delinsGA (p.Glu493=)
c.*4686_*4687delinsGA (n.*4686_*4687delinsGA)
n.56_57delinsGA
c.1216_1217delinsGA (p.Glu406=)
c.5-7060_5-7059delinsGA (n.5-7060_5-7059delinsGA)
c.376_377delinsGA (p.Glu126=)
c.-98-20821_-98-20820delinsGA (n.-98-20821_-98-20820delinsGA)
n.5039_5040delinsGA
n.5080_5081delinsGA
17g.43071011C>ACA003073BRCA1c.4900G>T (p.Glu1634Ter)
c.4903G>T (p.Glu1635Ter)
c.4777G>T (p.Glu1593Ter)
c.4897G>T (p.Glu1633Ter)
c.4825G>T (p.Glu1609Ter)
c.1591G>T (p.Glu531Ter)
c.1453G>T (p.Glu485Ter)
c.4015G>T (p.Glu1339Ter)
c.4780G>T (p.Glu1594Ter)
c.4969G>T (p.Glu1657Ter)
c.4762G>T (p.Glu1588Ter)
c.1465G>T (p.Glu489Ter)
c.1510G>T (p.Glu504Ter)
c.4966G>T (p.Glu1656Ter)
c.1290G>T
c.1477G>T (p.Glu493Ter)
c.*4686G>T (n.*4686G>T)
n.56G>T
c.1216G>T (p.Glu406Ter)
c.5-7060G>T (n.5-7060G>T)
c.376G>T (p.Glu126Ter)
c.-98-20821G>T (n.-98-20821G>T)
n.5039G>T
n.5080G>T
 ClinVar dbSNP
17g.43071011C=CA2260772833BRCA1c.4900G= (p.Glu1634=)
c.4903G= (p.Glu1635=)
c.4777G= (p.Glu1593=)
c.4897G= (p.Glu1633=)
c.4825G= (p.Glu1609=)
c.1591G= (p.Glu531=)
c.1453G= (p.Glu485=)
c.4015G= (p.Glu1339=)
c.4780G= (p.Glu1594=)
c.4969G= (p.Glu1657=)
c.4762G= (p.Glu1588=)
c.1465G= (p.Glu489=)
c.1510G= (p.Glu504=)
c.4966G= (p.Glu1656=)
c.1290G=
c.1477G= (p.Glu493=)
c.*4686G= (n.*4686G=)
n.56G=
c.1216G= (p.Glu406=)
c.5-7060G= (n.5-7060G=)
c.376G= (p.Glu126=)
c.-98-20821G= (n.-98-20821G=)
n.5039G=
n.5080G=
17g.43071011C>GCA10591719BRCA1c.4900G>C (p.Glu1634Gln)
c.4903G>C (p.Glu1635Gln)
c.4777G>C (p.Glu1593Gln)
c.4897G>C (p.Glu1633Gln)
c.4825G>C (p.Glu1609Gln)
c.1591G>C (p.Glu531Gln)
c.1453G>C (p.Glu485Gln)
c.4015G>C (p.Glu1339Gln)
c.4780G>C (p.Glu1594Gln)
c.4969G>C (p.Glu1657Gln)
c.4762G>C (p.Glu1588Gln)
c.1465G>C (p.Glu489Gln)
c.1510G>C (p.Glu504Gln)
c.4966G>C (p.Glu1656Gln)
c.1290G>C
c.1477G>C (p.Glu493Gln)
c.*4686G>C (n.*4686G>C)
n.56G>C
c.1216G>C (p.Glu406Gln)
c.5-7060G>C (n.5-7060G>C)
c.376G>C (p.Glu126Gln)
c.-98-20821G>C (n.-98-20821G>C)
n.5039G>C
n.5080G>C
 ClinVar dbSNP
17g.43071011C>TCA003072BRCA1c.4900G>A (p.Glu1634Lys)
c.4903G>A (p.Glu1635Lys)
c.4777G>A (p.Glu1593Lys)
c.4897G>A (p.Glu1633Lys)
c.4825G>A (p.Glu1609Lys)
c.1591G>A (p.Glu531Lys)
c.1453G>A (p.Glu485Lys)
c.4015G>A (p.Glu1339Lys)
c.4780G>A (p.Glu1594Lys)
c.4969G>A (p.Glu1657Lys)
c.4762G>A (p.Glu1588Lys)
c.1465G>A (p.Glu489Lys)
c.1510G>A (p.Glu504Lys)
c.4966G>A (p.Glu1656Lys)
c.1290G>A
c.1477G>A (p.Glu493Lys)
c.*4686G>A (n.*4686G>A)
n.56G>A
c.1216G>A (p.Glu406Lys)
c.5-7060G>A (n.5-7060G>A)
c.376G>A (p.Glu126Lys)
c.-98-20821G>A (n.-98-20821G>A)
n.5039G>A
n.5080G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43071013dupCA915950106BRCA1c.4900dup (p.Glu1634GlyfsTer?)
c.4903dup (p.Glu1635GlyfsTer?)
c.4777dup (p.Glu1593GlyfsTer?)
c.4897dup (p.Glu1633GlyfsTer?)
c.4825dup (p.Glu1609GlyfsTer?)
c.1591dup (p.Glu531GlyfsTer?)
c.1453dup (p.Glu485GlyfsTer?)
c.4015dup (p.Glu1339GlyfsTer?)
c.4780dup (p.Glu1594GlyfsTer?)
c.4969dup (p.Glu1657GlyfsTer?)
c.4762dup (p.Glu1588GlyfsTer?)
c.1465dup (p.Glu489GlyfsTer?)
c.1510dup (p.Glu504GlyfsTer?)
c.4966dup (p.Glu1656GlyfsTer?)
c.1290dup
c.1477dup (p.Glu493GlyfsTer?)
c.*4686dup (n.*4686dup)
n.56dup
c.1216dup (p.Glu406GlyfsTer?)
c.5-7060dup (n.5-7060dup)
c.376dup (p.Glu126GlyfsTer?)
c.-98-20821dup (n.-98-20821dup)
n.5039dup
n.5080dup
 ClinVar dbSNP
17g.43071013delCA645373142BRCA1c.4900del (p.Glu1634ArgfsTer5)
c.4903del (p.Glu1635ArgfsTer5)
c.4777del (p.Glu1593ArgfsTer5)
c.4897del (p.Glu1633ArgfsTer5)
c.4825del (p.Glu1609ArgfsTer5)
c.1591del (p.Glu531ArgfsTer5)
c.1453del (p.Glu485ArgfsTer5)
c.4015del (p.Glu1339ArgfsTer5)
c.4780del (p.Glu1594ArgfsTer5)
c.4969del (p.Glu1657ArgfsTer5)
c.4762del (p.Glu1588ArgfsTer5)
c.1465del (p.Glu489ArgfsTer5)
c.1510del (p.Glu504ArgfsTer5)
c.4966del (p.Glu1656ArgfsTer5)
c.1290del
c.1477del (p.Glu493ArgfsTer5)
c.*4686del (n.*4686del)
n.56del
c.1216del (p.Glu406ArgfsTer5)
c.5-7060del (n.5-7060del)
c.376del (p.Glu126ArgfsTer5)
c.-98-20821del (n.-98-20821del)
n.5039del
n.5080del
 ClinVar dbSNP
17g.43071012C>ACA053433BRCA1c.4899G>T (p.Arg1633Ser)
c.4902G>T (p.Arg1634Ser)
c.4776G>T (p.Arg1592Ser)
c.4896G>T (p.Arg1632Ser)
c.4824G>T (p.Arg1608Ser)
c.1590G>T (p.Arg530Ser)
c.1452G>T (p.Arg484Ser)
c.4014G>T (p.Arg1338Ser)
c.4779G>T (p.Arg1593Ser)
c.4968G>T (p.Arg1656Ser)
c.4761G>T (p.Arg1587Ser)
c.1464G>T (p.Arg488Ser)
c.1509G>T (p.Arg503Ser)
c.4965G>T (p.Arg1655Ser)
c.1289G>T
c.1476G>T (p.Arg492Ser)
c.*4685G>T (n.*4685G>T)
n.55G>T
c.1215G>T (p.Arg405Ser)
c.5-7061G>T (n.5-7061G>T)
c.375G>T (p.Arg125Ser)
c.-98-20822G>T (n.-98-20822G>T)
n.5038G>T
n.5079G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43071012C=CA2260772834BRCA1c.4899G= (p.Arg1633=)
c.4902G= (p.Arg1634=)
c.4776G= (p.Arg1592=)
c.4896G= (p.Arg1632=)
c.4824G= (p.Arg1608=)
c.1590G= (p.Arg530=)
c.1452G= (p.Arg484=)
c.4014G= (p.Arg1338=)
c.4779G= (p.Arg1593=)
c.4968G= (p.Arg1656=)
c.4761G= (p.Arg1587=)
c.1464G= (p.Arg488=)
c.1509G= (p.Arg503=)
c.4965G= (p.Arg1655=)
c.1289G=
c.1476G= (p.Arg492=)
c.*4685G= (n.*4685G=)
n.55G=
c.1215G= (p.Arg405=)
c.5-7061G= (n.5-7061G=)
c.375G= (p.Arg125=)
c.-98-20822G= (n.-98-20822G=)
n.5038G=
n.5079G=
17g.43071012C>GCA10591720BRCA1c.4899G>C (p.Arg1633Ser)
c.4902G>C (p.Arg1634Ser)
c.4776G>C (p.Arg1592Ser)
c.4896G>C (p.Arg1632Ser)
c.4824G>C (p.Arg1608Ser)
c.1590G>C (p.Arg530Ser)
c.1452G>C (p.Arg484Ser)
c.4014G>C (p.Arg1338Ser)
c.4779G>C (p.Arg1593Ser)
c.4968G>C (p.Arg1656Ser)
c.4761G>C (p.Arg1587Ser)
c.1464G>C (p.Arg488Ser)
c.1509G>C (p.Arg503Ser)
c.4965G>C (p.Arg1655Ser)
c.1289G>C
c.1476G>C (p.Arg492Ser)
c.*4685G>C (n.*4685G>C)
n.55G>C
c.1215G>C (p.Arg405Ser)
c.5-7061G>C (n.5-7061G>C)
c.375G>C (p.Arg125Ser)
c.-98-20822G>C (n.-98-20822G>C)
n.5038G>C
n.5079G>C
 ClinVar dbSNP
17g.43071012C>TCA339038BRCA1c.4899G>A (p.Arg1633=)
c.4902G>A (p.Arg1634=)
c.4776G>A (p.Arg1592=)
c.4896G>A (p.Arg1632=)
c.4824G>A (p.Arg1608=)
c.1590G>A (p.Arg530=)
c.1452G>A (p.Arg484=)
c.4014G>A (p.Arg1338=)
c.4779G>A (p.Arg1593=)
c.4968G>A (p.Arg1656=)
c.4761G>A (p.Arg1587=)
c.1464G>A (p.Arg488=)
c.1509G>A (p.Arg503=)
c.4965G>A (p.Arg1655=)
c.1289G>A
c.1476G>A (p.Arg492=)
c.*4685G>A (n.*4685G>A)
n.55G>A
c.1215G>A (p.Arg405=)
c.5-7061G>A (n.5-7061G>A)
c.375G>A (p.Arg125=)
c.-98-20822G>A (n.-98-20822G>A)
n.5038G>A
n.5079G>A
 ClinVar dbSNP gnomAD v4
17g.43071013C>ACA10591721BRCA1c.4898G>T (p.Arg1633Met)
c.4901G>T (p.Arg1634Met)
c.4775G>T (p.Arg1592Met)
c.4895G>T (p.Arg1632Met)
c.4823G>T (p.Arg1608Met)
c.1589G>T (p.Arg530Met)
c.1451G>T (p.Arg484Met)
c.4013G>T (p.Arg1338Met)
c.4778G>T (p.Arg1593Met)
c.4967G>T (p.Arg1656Met)
c.4760G>T (p.Arg1587Met)
c.1463G>T (p.Arg488Met)
c.1508G>T (p.Arg503Met)
c.4964G>T (p.Arg1655Met)
c.1288G>T
c.1475G>T (p.Arg492Met)
c.*4684G>T (n.*4684G>T)
n.54G>T
c.1214G>T (p.Arg405Met)
c.5-7062G>T (n.5-7062G>T)
c.374G>T (p.Arg125Met)
c.-98-20823G>T (n.-98-20823G>T)
n.5037G>T
n.5078G>T
 dbSNP
17g.43071013C=CA2260772835BRCA1c.4898G= (p.Arg1633=)
c.4901G= (p.Arg1634=)
c.4775G= (p.Arg1592=)
c.4895G= (p.Arg1632=)
c.4823G= (p.Arg1608=)
c.1589G= (p.Arg530=)
c.1451G= (p.Arg484=)
c.4013G= (p.Arg1338=)
c.4778G= (p.Arg1593=)
c.4967G= (p.Arg1656=)
c.4760G= (p.Arg1587=)
c.1463G= (p.Arg488=)
c.1508G= (p.Arg503=)
c.4964G= (p.Arg1655=)
c.1288G=
c.1475G= (p.Arg492=)
c.*4684G= (n.*4684G=)
n.54G=
c.1214G= (p.Arg405=)
c.5-7062G= (n.5-7062G=)
c.374G= (p.Arg125=)
c.-98-20823G= (n.-98-20823G=)
n.5037G=
n.5078G=
17g.43071013C>GCA10591722BRCA1c.4898G>C (p.Arg1633Thr)
c.4901G>C (p.Arg1634Thr)
c.4775G>C (p.Arg1592Thr)
c.4895G>C (p.Arg1632Thr)
c.4823G>C (p.Arg1608Thr)
c.1589G>C (p.Arg530Thr)
c.1451G>C (p.Arg484Thr)
c.4013G>C (p.Arg1338Thr)
c.4778G>C (p.Arg1593Thr)
c.4967G>C (p.Arg1656Thr)
c.4760G>C (p.Arg1587Thr)
c.1463G>C (p.Arg488Thr)
c.1508G>C (p.Arg503Thr)
c.4964G>C (p.Arg1655Thr)
c.1288G>C
c.1475G>C (p.Arg492Thr)
c.*4684G>C (n.*4684G>C)
n.54G>C
c.1214G>C (p.Arg405Thr)
c.5-7062G>C (n.5-7062G>C)
c.374G>C (p.Arg125Thr)
c.-98-20823G>C (n.-98-20823G>C)
n.5037G>C
n.5078G>C
 ClinVar dbSNP
17g.43071013C>TCA10591723BRCA1c.4898G>A (p.Arg1633Lys)
c.4901G>A (p.Arg1634Lys)
c.4775G>A (p.Arg1592Lys)
c.4895G>A (p.Arg1632Lys)
c.4823G>A (p.Arg1608Lys)
c.1589G>A (p.Arg530Lys)
c.1451G>A (p.Arg484Lys)
c.4013G>A (p.Arg1338Lys)
c.4778G>A (p.Arg1593Lys)
c.4967G>A (p.Arg1656Lys)
c.4760G>A (p.Arg1587Lys)
c.1463G>A (p.Arg488Lys)
c.1508G>A (p.Arg503Lys)
c.4964G>A (p.Arg1655Lys)
c.1288G>A
c.1475G>A (p.Arg492Lys)
c.*4684G>A (n.*4684G>A)
n.54G>A
c.1214G>A (p.Arg405Lys)
c.5-7062G>A (n.5-7062G>A)
c.374G>A (p.Arg125Lys)
c.-98-20823G>A (n.-98-20823G>A)
n.5037G>A
n.5078G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43071014T>ACA10591724BRCA1c.4897A>T (p.Arg1633Trp)
c.4900A>T (p.Arg1634Trp)
c.4774A>T (p.Arg1592Trp)
c.4894A>T (p.Arg1632Trp)
c.4822A>T (p.Arg1608Trp)
c.1588A>T (p.Arg530Trp)
c.1450A>T (p.Arg484Trp)
c.4012A>T (p.Arg1338Trp)
c.4777A>T (p.Arg1593Trp)
c.4966A>T (p.Arg1656Trp)
c.4759A>T (p.Arg1587Trp)
c.1462A>T (p.Arg488Trp)
c.1507A>T (p.Arg503Trp)
c.4963A>T (p.Arg1655Trp)
c.1287A>T
c.1474A>T (p.Arg492Trp)
c.*4683A>T (n.*4683A>T)
n.53A>T
c.1213A>T (p.Arg405Trp)
c.5-7063A>T (n.5-7063A>T)
c.373A>T (p.Arg125Trp)
c.-98-20824A>T (n.-98-20824A>T)
n.5036A>T
n.5077A>T
 dbSNP
17g.43071014T>CCA10591725BRCA1c.4897A>G (p.Arg1633Gly)
c.4900A>G (p.Arg1634Gly)
c.4774A>G (p.Arg1592Gly)
c.4894A>G (p.Arg1632Gly)
c.4822A>G (p.Arg1608Gly)
c.1588A>G (p.Arg530Gly)
c.1450A>G (p.Arg484Gly)
c.4012A>G (p.Arg1338Gly)
c.4777A>G (p.Arg1593Gly)
c.4966A>G (p.Arg1656Gly)
c.4759A>G (p.Arg1587Gly)
c.1462A>G (p.Arg488Gly)
c.1507A>G (p.Arg503Gly)
c.4963A>G (p.Arg1655Gly)
c.1287A>G
c.1474A>G (p.Arg492Gly)
c.*4683A>G (n.*4683A>G)
n.53A>G
c.1213A>G (p.Arg405Gly)
c.5-7063A>G (n.5-7063A>G)
c.373A>G (p.Arg125Gly)
c.-98-20824A>G (n.-98-20824A>G)
n.5036A>G
n.5077A>G
 ClinVar dbSNP
17g.43071014T>GCA500231709BRCA1c.4897A>C (p.Arg1633=)
c.4900A>C (p.Arg1634=)
c.4774A>C (p.Arg1592=)
c.4894A>C (p.Arg1632=)
c.4822A>C (p.Arg1608=)
c.1588A>C (p.Arg530=)
c.1450A>C (p.Arg484=)
c.4012A>C (p.Arg1338=)
c.4777A>C (p.Arg1593=)
c.4966A>C (p.Arg1656=)
c.4759A>C (p.Arg1587=)
c.1462A>C (p.Arg488=)
c.1507A>C (p.Arg503=)
c.4963A>C (p.Arg1655=)
c.1287A>C
c.1474A>C (p.Arg492=)
c.*4683A>C (n.*4683A>C)
n.53A>C
c.1213A>C (p.Arg405=)
c.5-7063A>C (n.5-7063A>C)
c.373A>C (p.Arg125=)
c.-98-20824A>C (n.-98-20824A>C)
n.5036A>C
n.5077A>C
 ClinVar dbSNP
17g.43071014T=CA2260772836BRCA1c.4897A= (p.Arg1633=)
c.4900A= (p.Arg1634=)
c.4774A= (p.Arg1592=)
c.4894A= (p.Arg1632=)
c.4822A= (p.Arg1608=)
c.1588A= (p.Arg530=)
c.1450A= (p.Arg484=)
c.4012A= (p.Arg1338=)
c.4777A= (p.Arg1593=)
c.4966A= (p.Arg1656=)
c.4759A= (p.Arg1587=)
c.1462A= (p.Arg488=)
c.1507A= (p.Arg503=)
c.4963A= (p.Arg1655=)
c.1287A=
c.1474A= (p.Arg492=)
c.*4683A= (n.*4683A=)
n.53A=
c.1213A= (p.Arg405=)
c.5-7063A= (n.5-7063A=)
c.373A= (p.Arg125=)
c.-98-20824A= (n.-98-20824A=)
n.5036A=
n.5077A=
17g.43071015G>ACA500231712BRCA1c.4896C>T (p.Ser1632=)
c.4899C>T (p.Ser1633=)
c.4773C>T (p.Ser1591=)
c.4893C>T (p.Ser1631=)
c.4821C>T (p.Ser1607=)
c.1587C>T (p.Ser529=)
c.1449C>T (p.Ser483=)
c.4011C>T (p.Ser1337=)
c.4776C>T (p.Ser1592=)
c.4965C>T (p.Ser1655=)
c.4758C>T (p.Ser1586=)
c.1461C>T (p.Ser487=)
c.1506C>T (p.Ser502=)
c.4962C>T (p.Ser1654=)
c.1286C>T
c.1473C>T (p.Ser491=)
c.*4682C>T (n.*4682C>T)
n.52C>T
c.1212C>T (p.Ser404=)
c.5-7064C>T (n.5-7064C>T)
c.372C>T (p.Ser124=)
c.-98-20825C>T (n.-98-20825C>T)
n.5035C>T
n.5076C>T
 ClinVar dbSNP gnomAD v4
17g.43071015G>CCA10591726BRCA1c.4896C>G (p.Ser1632Arg)
c.4899C>G (p.Ser1633Arg)
c.4773C>G (p.Ser1591Arg)
c.4893C>G (p.Ser1631Arg)
c.4821C>G (p.Ser1607Arg)
c.1587C>G (p.Ser529Arg)
c.1449C>G (p.Ser483Arg)
c.4011C>G (p.Ser1337Arg)
c.4776C>G (p.Ser1592Arg)
c.4965C>G (p.Ser1655Arg)
c.4758C>G (p.Ser1586Arg)
c.1461C>G (p.Ser487Arg)
c.1506C>G (p.Ser502Arg)
c.4962C>G (p.Ser1654Arg)
c.1286C>G
c.1473C>G (p.Ser491Arg)
c.*4682C>G (n.*4682C>G)
n.52C>G
c.1212C>G (p.Ser404Arg)
c.5-7064C>G (n.5-7064C>G)
c.372C>G (p.Ser124Arg)
c.-98-20825C>G (n.-98-20825C>G)
n.5035C>G
n.5076C>G
 ClinVar dbSNP
17g.43071015G=CA2260772837BRCA1c.4896C= (p.Ser1632=)
c.4899C= (p.Ser1633=)
c.4773C= (p.Ser1591=)
c.4893C= (p.Ser1631=)
c.4821C= (p.Ser1607=)
c.1587C= (p.Ser529=)
c.1449C= (p.Ser483=)
c.4011C= (p.Ser1337=)
c.4776C= (p.Ser1592=)
c.4965C= (p.Ser1655=)
c.4758C= (p.Ser1586=)
c.1461C= (p.Ser487=)
c.1506C= (p.Ser502=)
c.4962C= (p.Ser1654=)
c.1286C=
c.1473C= (p.Ser491=)
c.*4682C= (n.*4682C=)
n.52C=
c.1212C= (p.Ser404=)
c.5-7064C= (n.5-7064C=)
c.372C= (p.Ser124=)
c.-98-20825C= (n.-98-20825C=)
n.5035C=
n.5076C=
17g.43071015G>TCA10591727BRCA1c.4896C>A (p.Ser1632Arg)
c.4899C>A (p.Ser1633Arg)
c.4773C>A (p.Ser1591Arg)
c.4893C>A (p.Ser1631Arg)
c.4821C>A (p.Ser1607Arg)
c.1587C>A (p.Ser529Arg)
c.1449C>A (p.Ser483Arg)
c.4011C>A (p.Ser1337Arg)
c.4776C>A (p.Ser1592Arg)
c.4965C>A (p.Ser1655Arg)
c.4758C>A (p.Ser1586Arg)
c.1461C>A (p.Ser487Arg)
c.1506C>A (p.Ser502Arg)
c.4962C>A (p.Ser1654Arg)
c.1286C>A
c.1473C>A (p.Ser491Arg)
c.*4682C>A (n.*4682C>A)
n.52C>A
c.1212C>A (p.Ser404Arg)
c.5-7064C>A (n.5-7064C>A)
c.372C>A (p.Ser124Arg)
c.-98-20825C>A (n.-98-20825C>A)
n.5035C>A
n.5076C>A
 ClinVar dbSNP
17g.43071015dupCA2695225904BRCA1c.4896dup (p.Arg1633GlnfsTer?)
c.4899dup (p.Arg1634GlnfsTer?)
c.4773dup (p.Arg1592GlnfsTer?)
c.4893dup (p.Arg1632GlnfsTer?)
c.4821dup (p.Arg1608GlnfsTer?)
c.1587dup (p.Arg530GlnfsTer?)
c.1449dup (p.Arg484GlnfsTer?)
c.4011dup (p.Arg1338GlnfsTer?)
c.4776dup (p.Arg1593GlnfsTer?)
c.4965dup (p.Arg1656GlnfsTer?)
c.4758dup (p.Arg1587GlnfsTer?)
c.1461dup (p.Arg488GlnfsTer?)
c.1506dup (p.Arg503GlnfsTer?)
c.4962dup (p.Arg1655GlnfsTer?)
c.1286dup
c.1473dup (p.Arg492GlnfsTer?)
c.*4682dup (n.*4682dup)
n.52dup
c.1212dup (p.Arg405GlnfsTer?)
c.5-7064dup (n.5-7064dup)
c.372dup (p.Arg125GlnfsTer?)
c.-98-20825dup (n.-98-20825dup)
n.5035dup
n.5076dup
17g.43071016C>ACA10591728BRCA1c.4895G>T (p.Ser1632Ile)
c.4898G>T (p.Ser1633Ile)
c.4772G>T (p.Ser1591Ile)
c.4892G>T (p.Ser1631Ile)
c.4820G>T (p.Ser1607Ile)
c.1586G>T (p.Ser529Ile)
c.1448G>T (p.Ser483Ile)
c.4010G>T (p.Ser1337Ile)
c.4775G>T (p.Ser1592Ile)
c.4964G>T (p.Ser1655Ile)
c.4757G>T (p.Ser1586Ile)
c.1460G>T (p.Ser487Ile)
c.1505G>T (p.Ser502Ile)
c.4961G>T (p.Ser1654Ile)
c.1285G>T
c.1472G>T (p.Ser491Ile)
c.*4681G>T (n.*4681G>T)
n.51G>T
c.1211G>T (p.Ser404Ile)
c.5-7065G>T (n.5-7065G>T)
c.371G>T (p.Ser124Ile)
c.-98-20826G>T (n.-98-20826G>T)
n.5034G>T
n.5075G>T
 ClinVar dbSNP
17g.43071016C=CA2260772838BRCA1c.4895G= (p.Ser1632=)
c.4898G= (p.Ser1633=)
c.4772G= (p.Ser1591=)
c.4892G= (p.Ser1631=)
c.4820G= (p.Ser1607=)
c.1586G= (p.Ser529=)
c.1448G= (p.Ser483=)
c.4010G= (p.Ser1337=)
c.4775G= (p.Ser1592=)
c.4964G= (p.Ser1655=)
c.4757G= (p.Ser1586=)
c.1460G= (p.Ser487=)
c.1505G= (p.Ser502=)
c.4961G= (p.Ser1654=)
c.1285G=
c.1472G= (p.Ser491=)
c.*4681G= (n.*4681G=)
n.51G=
c.1211G= (p.Ser404=)
c.5-7065G= (n.5-7065G=)
c.371G= (p.Ser124=)
c.-98-20826G= (n.-98-20826G=)
n.5034G=
n.5075G=
17g.43071016C>GCA10591729BRCA1c.4895G>C (p.Ser1632Thr)
c.4898G>C (p.Ser1633Thr)
c.4772G>C (p.Ser1591Thr)
c.4892G>C (p.Ser1631Thr)
c.4820G>C (p.Ser1607Thr)
c.1586G>C (p.Ser529Thr)
c.1448G>C (p.Ser483Thr)
c.4010G>C (p.Ser1337Thr)
c.4775G>C (p.Ser1592Thr)
c.4964G>C (p.Ser1655Thr)
c.4757G>C (p.Ser1586Thr)
c.1460G>C (p.Ser487Thr)
c.1505G>C (p.Ser502Thr)
c.4961G>C (p.Ser1654Thr)
c.1285G>C
c.1472G>C (p.Ser491Thr)
c.*4681G>C (n.*4681G>C)
n.51G>C
c.1211G>C (p.Ser404Thr)
c.5-7065G>C (n.5-7065G>C)
c.371G>C (p.Ser124Thr)
c.-98-20826G>C (n.-98-20826G>C)
n.5034G>C
n.5075G>C
 ClinVar dbSNP
17g.43071016C>TCA10591730BRCA1c.4895G>A (p.Ser1632Asn)
c.4898G>A (p.Ser1633Asn)
c.4772G>A (p.Ser1591Asn)
c.4892G>A (p.Ser1631Asn)
c.4820G>A (p.Ser1607Asn)
c.1586G>A (p.Ser529Asn)
c.1448G>A (p.Ser483Asn)
c.4010G>A (p.Ser1337Asn)
c.4775G>A (p.Ser1592Asn)
c.4964G>A (p.Ser1655Asn)
c.4757G>A (p.Ser1586Asn)
c.1460G>A (p.Ser487Asn)
c.1505G>A (p.Ser502Asn)
c.4961G>A (p.Ser1654Asn)
c.1285G>A
c.1472G>A (p.Ser491Asn)
c.*4681G>A (n.*4681G>A)
n.51G>A
c.1211G>A (p.Ser404Asn)
c.5-7065G>A (n.5-7065G>A)
c.371G>A (p.Ser124Asn)
c.-98-20826G>A (n.-98-20826G>A)
n.5034G>A
n.5075G>A
 ClinVar dbSNP
17g.43071017T>ACA10591731BRCA1c.4894A>T (p.Ser1632Cys)
c.4897A>T (p.Ser1633Cys)
c.4771A>T (p.Ser1591Cys)
c.4891A>T (p.Ser1631Cys)
c.4819A>T (p.Ser1607Cys)
c.1585A>T (p.Ser529Cys)
c.1447A>T (p.Ser483Cys)
c.4009A>T (p.Ser1337Cys)
c.4774A>T (p.Ser1592Cys)
c.4963A>T (p.Ser1655Cys)
c.4756A>T (p.Ser1586Cys)
c.1459A>T (p.Ser487Cys)
c.1504A>T (p.Ser502Cys)
c.4960A>T (p.Ser1654Cys)
c.1284A>T
c.1471A>T (p.Ser491Cys)
c.*4680A>T (n.*4680A>T)
n.50A>T
c.1210A>T (p.Ser404Cys)
c.5-7066A>T (n.5-7066A>T)
c.370A>T (p.Ser124Cys)
c.-98-20827A>T (n.-98-20827A>T)
n.5033A>T
n.5074A>T
 ClinVar dbSNP
17g.43071017T>CCA10591732BRCA1c.4894A>G (p.Ser1632Gly)
c.4897A>G (p.Ser1633Gly)
c.4771A>G (p.Ser1591Gly)
c.4891A>G (p.Ser1631Gly)
c.4819A>G (p.Ser1607Gly)
c.1585A>G (p.Ser529Gly)
c.1447A>G (p.Ser483Gly)
c.4009A>G (p.Ser1337Gly)
c.4774A>G (p.Ser1592Gly)
c.4963A>G (p.Ser1655Gly)
c.4756A>G (p.Ser1586Gly)
c.1459A>G (p.Ser487Gly)
c.1504A>G (p.Ser502Gly)
c.4960A>G (p.Ser1654Gly)
c.1284A>G
c.1471A>G (p.Ser491Gly)
c.*4680A>G (n.*4680A>G)
n.50A>G
c.1210A>G (p.Ser404Gly)
c.5-7066A>G (n.5-7066A>G)
c.370A>G (p.Ser124Gly)
c.-98-20827A>G (n.-98-20827A>G)
n.5033A>G
n.5074A>G
 ClinVar dbSNP
17g.43071017T>GCA10591733BRCA1c.4894A>C (p.Ser1632Arg)
c.4897A>C (p.Ser1633Arg)
c.4771A>C (p.Ser1591Arg)
c.4891A>C (p.Ser1631Arg)
c.4819A>C (p.Ser1607Arg)
c.1585A>C (p.Ser529Arg)
c.1447A>C (p.Ser483Arg)
c.4009A>C (p.Ser1337Arg)
c.4774A>C (p.Ser1592Arg)
c.4963A>C (p.Ser1655Arg)
c.4756A>C (p.Ser1586Arg)
c.1459A>C (p.Ser487Arg)
c.1504A>C (p.Ser502Arg)
c.4960A>C (p.Ser1654Arg)
c.1284A>C
c.1471A>C (p.Ser491Arg)
c.*4680A>C (n.*4680A>C)
n.50A>C
c.1210A>C (p.Ser404Arg)
c.5-7066A>C (n.5-7066A>C)
c.370A>C (p.Ser124Arg)
c.-98-20827A>C (n.-98-20827A>C)
n.5033A>C
n.5074A>C
 ClinVar dbSNP
17g.43071017T=CA2260772840BRCA1c.4894A= (p.Ser1632=)
c.4897A= (p.Ser1633=)
c.4771A= (p.Ser1591=)
c.4891A= (p.Ser1631=)
c.4819A= (p.Ser1607=)
c.1585A= (p.Ser529=)
c.1447A= (p.Ser483=)
c.4009A= (p.Ser1337=)
c.4774A= (p.Ser1592=)
c.4963A= (p.Ser1655=)
c.4756A= (p.Ser1586=)
c.1459A= (p.Ser487=)
c.1504A= (p.Ser502=)
c.4960A= (p.Ser1654=)
c.1284A=
c.1471A= (p.Ser491=)
c.*4680A= (n.*4680A=)
n.50A=
c.1210A= (p.Ser404=)
c.5-7066A= (n.5-7066A=)
c.370A= (p.Ser124=)
c.-98-20827A= (n.-98-20827A=)
n.5033A=
n.5074A=
17g.43071017_43071019delinsTCACA2260772839BRCA1c.4892_4894delinsTGA (p.Val1631=)
c.4895_4897delinsTGA (p.Val1632=)
c.4769_4771delinsTGA (p.Val1590=)
c.4889_4891delinsTGA (p.Val1630=)
c.4817_4819delinsTGA (p.Val1606=)
c.1583_1585delinsTGA (p.Val528=)
c.1445_1447delinsTGA (p.Val482=)
c.4007_4009delinsTGA (p.Val1336=)
c.4772_4774delinsTGA (p.Val1591=)
c.4961_4963delinsTGA (p.Val1654=)
c.4754_4756delinsTGA (p.Val1585=)
c.1457_1459delinsTGA (p.Val486=)
c.1502_1504delinsTGA (p.Val501=)
c.4958_4960delinsTGA (p.Val1653=)
c.1282_1284delinsTGA
c.1469_1471delinsTGA (p.Val490=)
c.*4678_*4680delinsTGA (n.*4678_*4680delinsTGA)
n.48_50delinsTGA
c.1208_1210delinsTGA (p.Val403=)
c.5-7068_5-7066delinsTGA (n.5-7068_5-7066delinsTGA)
c.368_370delinsTGA (p.Val123=)
c.-98-20829_-98-20827delinsTGA (n.-98-20829_-98-20827delinsTGA)
n.5031_5033delinsTGA
n.5072_5074delinsTGA
17g.43071018delCA2695225905BRCA1c.4893del (p.Ser1632AlafsTer7)
c.4896del (p.Ser1633AlafsTer7)
c.4770del (p.Ser1591AlafsTer7)
c.4890del (p.Ser1631AlafsTer7)
c.4818del (p.Ser1607AlafsTer7)
c.1584del (p.Ser529AlafsTer7)
c.1446del (p.Ser483AlafsTer7)
c.4008del (p.Ser1337AlafsTer7)
c.4773del (p.Ser1592AlafsTer7)
c.4962del (p.Ser1655AlafsTer7)
c.4755del (p.Ser1586AlafsTer7)
c.1458del (p.Ser487AlafsTer7)
c.1503del (p.Ser502AlafsTer7)
c.4959del (p.Ser1654AlafsTer7)
c.1283del
c.1470del (p.Ser491AlafsTer7)
c.*4679del (n.*4679del)
n.49del
c.1209del (p.Ser404AlafsTer7)
c.5-7067del (n.5-7067del)
c.369del (p.Ser124AlafsTer7)
c.-98-20828del (n.-98-20828del)
n.5032del
n.5073del
17g.43071018C>ACA500231715BRCA1c.4893G>T (p.Val1631=)
c.4896G>T (p.Val1632=)
c.4770G>T (p.Val1590=)
c.4890G>T (p.Val1630=)
c.4818G>T (p.Val1606=)
c.1584G>T (p.Val528=)
c.1446G>T (p.Val482=)
c.4008G>T (p.Val1336=)
c.4773G>T (p.Val1591=)
c.4962G>T (p.Val1654=)
c.4755G>T (p.Val1585=)
c.1458G>T (p.Val486=)
c.1503G>T (p.Val501=)
c.4959G>T (p.Val1653=)
c.1283G>T
c.1470G>T (p.Val490=)
c.*4679G>T (n.*4679G>T)
n.49G>T
c.1209G>T (p.Val403=)
c.5-7067G>T (n.5-7067G>T)
c.369G>T (p.Val123=)
c.-98-20828G>T (n.-98-20828G>T)
n.5032G>T
n.5073G>T
 ClinVar dbSNP
17g.43071018C=CA2260772841BRCA1c.4893G= (p.Val1631=)
c.4896G= (p.Val1632=)
c.4770G= (p.Val1590=)
c.4890G= (p.Val1630=)
c.4818G= (p.Val1606=)
c.1584G= (p.Val528=)
c.1446G= (p.Val482=)
c.4008G= (p.Val1336=)
c.4773G= (p.Val1591=)
c.4962G= (p.Val1654=)
c.4755G= (p.Val1585=)
c.1458G= (p.Val486=)
c.1503G= (p.Val501=)
c.4959G= (p.Val1653=)
c.1283G=
c.1470G= (p.Val490=)
c.*4679G= (n.*4679G=)
n.49G=
c.1209G= (p.Val403=)
c.5-7067G= (n.5-7067G=)
c.369G= (p.Val123=)
c.-98-20828G= (n.-98-20828G=)
n.5032G=
n.5073G=
17g.43071018C>GCA500231718BRCA1c.4893G>C (p.Val1631=)
c.4896G>C (p.Val1632=)
c.4770G>C (p.Val1590=)
c.4890G>C (p.Val1630=)
c.4818G>C (p.Val1606=)
c.1584G>C (p.Val528=)
c.1446G>C (p.Val482=)
c.4008G>C (p.Val1336=)
c.4773G>C (p.Val1591=)
c.4962G>C (p.Val1654=)
c.4755G>C (p.Val1585=)
c.1458G>C (p.Val486=)
c.1503G>C (p.Val501=)
c.4959G>C (p.Val1653=)
c.1283G>C
c.1470G>C (p.Val490=)
c.*4679G>C (n.*4679G>C)
n.49G>C
c.1209G>C (p.Val403=)
c.5-7067G>C (n.5-7067G>C)
c.369G>C (p.Val123=)
c.-98-20828G>C (n.-98-20828G>C)
n.5032G>C
n.5073G>C
 ClinVar dbSNP
17g.43071018C>TCA500231720BRCA1c.4893G>A (p.Val1631=)
c.4896G>A (p.Val1632=)
c.4770G>A (p.Val1590=)
c.4890G>A (p.Val1630=)
c.4818G>A (p.Val1606=)
c.1584G>A (p.Val528=)
c.1446G>A (p.Val482=)
c.4008G>A (p.Val1336=)
c.4773G>A (p.Val1591=)
c.4962G>A (p.Val1654=)
c.4755G>A (p.Val1585=)
c.1458G>A (p.Val486=)
c.1503G>A (p.Val501=)
c.4959G>A (p.Val1653=)
c.1283G>A
c.1470G>A (p.Val490=)
c.*4679G>A (n.*4679G>A)
n.49G>A
c.1209G>A (p.Val403=)
c.5-7067G>A (n.5-7067G>A)
c.369G>A (p.Val123=)
c.-98-20828G>A (n.-98-20828G>A)
n.5032G>A
n.5073G>A
 ClinVar dbSNP gnomAD v4
17g.43071021_43071022delCA10586606BRCA1c.4892_4893del (p.Val1631GlufsTer?)
c.4895_4896del (p.Val1632GlufsTer?)
c.4769_4770del (p.Val1590GlufsTer?)
c.4889_4890del (p.Val1630GlufsTer?)
c.4817_4818del (p.Val1606GlufsTer?)
c.1583_1584del (p.Val528GlufsTer?)
c.1445_1446del (p.Val482GlufsTer?)
c.4007_4008del (p.Val1336GlufsTer?)
c.4772_4773del (p.Val1591GlufsTer?)
c.4961_4962del (p.Val1654GlufsTer?)
c.4754_4755del (p.Val1585GlufsTer?)
c.1457_1458del (p.Val486GlufsTer?)
c.1502_1503del (p.Val501GlufsTer?)
c.4958_4959del (p.Val1653GlufsTer?)
c.1282_1283del
c.1469_1470del (p.Val490GlufsTer?)
c.*4678_*4679del (n.*4678_*4679del)
n.48_49del
c.1208_1209del (p.Val403GlufsTer?)
c.5-7068_5-7067del (n.5-7068_5-7067del)
c.368_369del (p.Val123GlufsTer?)
c.-98-20829_-98-20828del (n.-98-20829_-98-20828del)
n.5031_5032del
n.5072_5073del
 ClinVar dbSNP
17g.43071019A=CA2260772842BRCA1c.4892T= (p.Val1631=)
c.4895T= (p.Val1632=)
c.4769T= (p.Val1590=)
c.4889T= (p.Val1630=)
c.4817T= (p.Val1606=)
c.1583T= (p.Val528=)
c.1445T= (p.Val482=)
c.4007T= (p.Val1336=)
c.4772T= (p.Val1591=)
c.4961T= (p.Val1654=)
c.4754T= (p.Val1585=)
c.1457T= (p.Val486=)
c.1502T= (p.Val501=)
c.4958T= (p.Val1653=)
c.1282T=
c.1469T= (p.Val490=)
c.*4678T= (n.*4678T=)
n.48T=
c.1208T= (p.Val403=)
c.5-7068T= (n.5-7068T=)
c.368T= (p.Val123=)
c.-98-20829T= (n.-98-20829T=)
n.5031T=
n.5072T=
17g.43071019A>CCA10591734BRCA1c.4892T>G (p.Val1631Gly)
c.4895T>G (p.Val1632Gly)
c.4769T>G (p.Val1590Gly)
c.4889T>G (p.Val1630Gly)
c.4817T>G (p.Val1606Gly)
c.1583T>G (p.Val528Gly)
c.1445T>G (p.Val482Gly)
c.4007T>G (p.Val1336Gly)
c.4772T>G (p.Val1591Gly)
c.4961T>G (p.Val1654Gly)
c.4754T>G (p.Val1585Gly)
c.1457T>G (p.Val486Gly)
c.1502T>G (p.Val501Gly)
c.4958T>G (p.Val1653Gly)
c.1282T>G
c.1469T>G (p.Val490Gly)
c.*4678T>G (n.*4678T>G)
n.48T>G
c.1208T>G (p.Val403Gly)
c.5-7068T>G (n.5-7068T>G)
c.368T>G (p.Val123Gly)
c.-98-20829T>G (n.-98-20829T>G)
n.5031T>G
n.5072T>G
 ClinVar dbSNP
17g.43071019A>GCA10591735BRCA1c.4892T>C (p.Val1631Ala)
c.4895T>C (p.Val1632Ala)
c.4769T>C (p.Val1590Ala)
c.4889T>C (p.Val1630Ala)
c.4817T>C (p.Val1606Ala)
c.1583T>C (p.Val528Ala)
c.1445T>C (p.Val482Ala)
c.4007T>C (p.Val1336Ala)
c.4772T>C (p.Val1591Ala)
c.4961T>C (p.Val1654Ala)
c.4754T>C (p.Val1585Ala)
c.1457T>C (p.Val486Ala)
c.1502T>C (p.Val501Ala)
c.4958T>C (p.Val1653Ala)
c.1282T>C
c.1469T>C (p.Val490Ala)
c.*4678T>C (n.*4678T>C)
n.48T>C
c.1208T>C (p.Val403Ala)
c.5-7068T>C (n.5-7068T>C)
c.368T>C (p.Val123Ala)
c.-98-20829T>C (n.-98-20829T>C)
n.5031T>C
n.5072T>C
 ClinVar dbSNP
17g.43071019A>TCA10591736BRCA1c.4892T>A (p.Val1631Glu)
c.4895T>A (p.Val1632Glu)
c.4769T>A (p.Val1590Glu)
c.4889T>A (p.Val1630Glu)
c.4817T>A (p.Val1606Glu)
c.1583T>A (p.Val528Glu)
c.1445T>A (p.Val482Glu)
c.4007T>A (p.Val1336Glu)
c.4772T>A (p.Val1591Glu)
c.4961T>A (p.Val1654Glu)
c.4754T>A (p.Val1585Glu)
c.1457T>A (p.Val486Glu)
c.1502T>A (p.Val501Glu)
c.4958T>A (p.Val1653Glu)
c.1282T>A
c.1469T>A (p.Val490Glu)
c.*4678T>A (n.*4678T>A)
n.48T>A
c.1208T>A (p.Val403Glu)
c.5-7068T>A (n.5-7068T>A)
c.368T>A (p.Val123Glu)
c.-98-20829T>A (n.-98-20829T>A)
n.5031T>A
n.5072T>A
 ClinVar dbSNP
17g.43071020C>ACA003070BRCA1c.4891G>T (p.Val1631Leu)
c.4894G>T (p.Val1632Leu)
c.4768G>T (p.Val1590Leu)
c.4888G>T (p.Val1630Leu)
c.4816G>T (p.Val1606Leu)
c.1582G>T (p.Val528Leu)
c.1444G>T (p.Val482Leu)
c.4006G>T (p.Val1336Leu)
c.4771G>T (p.Val1591Leu)
c.4960G>T (p.Val1654Leu)
c.4753G>T (p.Val1585Leu)
c.1456G>T (p.Val486Leu)
c.1501G>T (p.Val501Leu)
c.4957G>T (p.Val1653Leu)
c.1281G>T
c.1468G>T (p.Val490Leu)
c.*4677G>T (n.*4677G>T)
n.47G>T
c.1207G>T (p.Val403Leu)
c.5-7069G>T (n.5-7069G>T)
c.367G>T (p.Val123Leu)
c.-98-20830G>T (n.-98-20830G>T)
n.5030G>T
n.5071G>T
 ClinVar dbSNP
17g.43071020C=CA2260772843BRCA1c.4891G= (p.Val1631=)
c.4894G= (p.Val1632=)
c.4768G= (p.Val1590=)
c.4888G= (p.Val1630=)
c.4816G= (p.Val1606=)
c.1582G= (p.Val528=)
c.1444G= (p.Val482=)
c.4006G= (p.Val1336=)
c.4771G= (p.Val1591=)
c.4960G= (p.Val1654=)
c.4753G= (p.Val1585=)
c.1456G= (p.Val486=)
c.1501G= (p.Val501=)
c.4957G= (p.Val1653=)
c.1281G=
c.1468G= (p.Val490=)
c.*4677G= (n.*4677G=)
n.47G=
c.1207G= (p.Val403=)
c.5-7069G= (n.5-7069G=)
c.367G= (p.Val123=)
c.-98-20830G= (n.-98-20830G=)
n.5030G=
n.5071G=
17g.43071020C>GCA10591737BRCA1c.4891G>C (p.Val1631Leu)
c.4894G>C (p.Val1632Leu)
c.4768G>C (p.Val1590Leu)
c.4888G>C (p.Val1630Leu)
c.4816G>C (p.Val1606Leu)
c.1582G>C (p.Val528Leu)
c.1444G>C (p.Val482Leu)
c.4006G>C (p.Val1336Leu)
c.4771G>C (p.Val1591Leu)
c.4960G>C (p.Val1654Leu)
c.4753G>C (p.Val1585Leu)
c.1456G>C (p.Val486Leu)
c.1501G>C (p.Val501Leu)
c.4957G>C (p.Val1653Leu)
c.1281G>C
c.1468G>C (p.Val490Leu)
c.*4677G>C (n.*4677G>C)
n.47G>C
c.1207G>C (p.Val403Leu)
c.5-7069G>C (n.5-7069G>C)
c.367G>C (p.Val123Leu)
c.-98-20830G>C (n.-98-20830G>C)
n.5030G>C
n.5071G>C
 ClinVar dbSNP gnomAD v4
17g.43071020C>TCA053429BRCA1c.4891G>A (p.Val1631Met)
c.4894G>A (p.Val1632Met)
c.4768G>A (p.Val1590Met)
c.4888G>A (p.Val1630Met)
c.4816G>A (p.Val1606Met)
c.1582G>A (p.Val528Met)
c.1444G>A (p.Val482Met)
c.4006G>A (p.Val1336Met)
c.4771G>A (p.Val1591Met)
c.4960G>A (p.Val1654Met)
c.4753G>A (p.Val1585Met)
c.1456G>A (p.Val486Met)
c.1501G>A (p.Val501Met)
c.4957G>A (p.Val1653Met)
c.1281G>A
c.1468G>A (p.Val490Met)
c.*4677G>A (n.*4677G>A)
n.47G>A
c.1207G>A (p.Val403Met)
c.5-7069G>A (n.5-7069G>A)
c.367G>A (p.Val123Met)
c.-98-20830G>A (n.-98-20830G>A)
n.5030G>A
n.5071G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43071020_43071027delinsCACTTTCTCA2260772844BRCA1c.4884_4891delinsAGAAAGTG (p.Glu1628=)
c.4887_4894delinsAGAAAGTG (p.Glu1629=)
c.4761_4768delinsAGAAAGTG (p.Glu1587=)
c.4881_4888delinsAGAAAGTG (p.Glu1627=)
c.4809_4816delinsAGAAAGTG (p.Glu1603=)
c.1575_1582delinsAGAAAGTG (p.Glu525=)
c.1437_1444delinsAGAAAGTG (p.Glu479=)
c.3999_4006delinsAGAAAGTG (p.Glu1333=)
c.4764_4771delinsAGAAAGTG (p.Glu1588=)
c.4953_4960delinsAGAAAGTG (p.Glu1651=)
c.4746_4753delinsAGAAAGTG (p.Glu1582=)
c.1449_1456delinsAGAAAGTG (p.Glu483=)
c.1494_1501delinsAGAAAGTG (p.Glu498=)
c.4950_4957delinsAGAAAGTG (p.Glu1650=)
c.1274_1281delinsAGAAAGTG
c.1461_1468delinsAGAAAGTG (p.Glu487=)
c.*4670_*4677delinsAGAAAGTG (n.*4670_*4677delinsAGAAAGTG)
n.40_47delinsAGAAAGTG
c.1200_1207delinsAGAAAGTG (p.Glu400=)
c.5-7076_5-7069delinsAGAAAGTG (n.5-7076_5-7069delinsAGAAAGTG)
c.360_367delinsAGAAAGTG (p.Glu120=)
c.-98-20837_-98-20830delinsAGAAAGTG (n.-98-20837_-98-20830delinsAGAAAGTG)
n.5023_5030delinsAGAAAGTG
n.5064_5071delinsAGAAAGTG
17g.43071021A=CA2260772845BRCA1c.4890T= (p.Ser1630=)
c.4893T= (p.Ser1631=)
c.4767T= (p.Ser1589=)
c.4887T= (p.Ser1629=)
c.4815T= (p.Ser1605=)
c.1581T= (p.Ser527=)
c.1443T= (p.Ser481=)
c.4005T= (p.Ser1335=)
c.4770T= (p.Ser1590=)
c.4959T= (p.Ser1653=)
c.4752T= (p.Ser1584=)
c.1455T= (p.Ser485=)
c.1500T= (p.Ser500=)
c.4956T= (p.Ser1652=)
c.1280T=
c.1467T= (p.Ser489=)
c.*4676T= (n.*4676T=)
n.46T=
c.1206T= (p.Ser402=)
c.5-7070T= (n.5-7070T=)
c.366T= (p.Ser122=)
c.-98-20831T= (n.-98-20831T=)
n.5029T=
n.5070T=
17g.43071021A>CCA10591738BRCA1c.4890T>G (p.Ser1630Arg)
c.4893T>G (p.Ser1631Arg)
c.4767T>G (p.Ser1589Arg)
c.4887T>G (p.Ser1629Arg)
c.4815T>G (p.Ser1605Arg)
c.1581T>G (p.Ser527Arg)
c.1443T>G (p.Ser481Arg)
c.4005T>G (p.Ser1335Arg)
c.4770T>G (p.Ser1590Arg)
c.4959T>G (p.Ser1653Arg)
c.4752T>G (p.Ser1584Arg)
c.1455T>G (p.Ser485Arg)
c.1500T>G (p.Ser500Arg)
c.4956T>G (p.Ser1652Arg)
c.1280T>G
c.1467T>G (p.Ser489Arg)
c.*4676T>G (n.*4676T>G)
n.46T>G
c.1206T>G (p.Ser402Arg)
c.5-7070T>G (n.5-7070T>G)
c.366T>G (p.Ser122Arg)
c.-98-20831T>G (n.-98-20831T>G)
n.5029T>G
n.5070T>G
 ClinVar dbSNP
17g.43071021A>GCA003068BRCA1c.4890T>C (p.Ser1630=)
c.4893T>C (p.Ser1631=)
c.4767T>C (p.Ser1589=)
c.4887T>C (p.Ser1629=)
c.4815T>C (p.Ser1605=)
c.1581T>C (p.Ser527=)
c.1443T>C (p.Ser481=)
c.4005T>C (p.Ser1335=)
c.4770T>C (p.Ser1590=)
c.4959T>C (p.Ser1653=)
c.4752T>C (p.Ser1584=)
c.1455T>C (p.Ser485=)
c.1500T>C (p.Ser500=)
c.4956T>C (p.Ser1652=)
c.1280T>C
c.1467T>C (p.Ser489=)
c.*4676T>C (n.*4676T>C)
n.46T>C
c.1206T>C (p.Ser402=)
c.5-7070T>C (n.5-7070T>C)
c.366T>C (p.Ser122=)
c.-98-20831T>C (n.-98-20831T>C)
n.5029T>C
n.5070T>C
 ClinVar dbSNP
17g.43071021A>TCA10591739BRCA1c.4890T>A (p.Ser1630Arg)
c.4893T>A (p.Ser1631Arg)
c.4767T>A (p.Ser1589Arg)
c.4887T>A (p.Ser1629Arg)
c.4815T>A (p.Ser1605Arg)
c.1581T>A (p.Ser527Arg)
c.1443T>A (p.Ser481Arg)
c.4005T>A (p.Ser1335Arg)
c.4770T>A (p.Ser1590Arg)
c.4959T>A (p.Ser1653Arg)
c.4752T>A (p.Ser1584Arg)
c.1455T>A (p.Ser485Arg)
c.1500T>A (p.Ser500Arg)
c.4956T>A (p.Ser1652Arg)
c.1280T>A
c.1467T>A (p.Ser489Arg)
c.*4676T>A (n.*4676T>A)
n.46T>A
c.1206T>A (p.Ser402Arg)
c.5-7070T>A (n.5-7070T>A)
c.366T>A (p.Ser122Arg)
c.-98-20831T>A (n.-98-20831T>A)
n.5029T>A
n.5070T>A
 ClinVar dbSNP
17g.43071021_43071027delCA10589637BRCA1c.4884_4890del (p.Glu1629Ter)
c.4887_4893del (p.Glu1630Ter)
c.4761_4767del (p.Glu1588Ter)
c.4881_4887del (p.Glu1628Ter)
c.4809_4815del (p.Glu1604Ter)
c.1575_1581del (p.Glu526Ter)
c.1437_1443del (p.Glu480Ter)
c.3999_4005del (p.Glu1334Ter)
c.4764_4770del (p.Glu1589Ter)
c.4953_4959del (p.Glu1652Ter)
c.4746_4752del (p.Glu1583Ter)
c.1449_1455del (p.Glu484Ter)
c.1494_1500del (p.Glu499Ter)
c.4950_4956del (p.Glu1651Ter)
c.1274_1280del
c.1461_1467del (p.Glu488Ter)
c.*4670_*4676del (n.*4670_*4676del)
n.40_46del
c.1200_1206del (p.Glu401Ter)
c.5-7076_5-7070del (n.5-7076_5-7070del)
c.360_366del (p.Glu121Ter)
c.-98-20837_-98-20831del (n.-98-20837_-98-20831del)
n.5023_5029del
n.5064_5070del
 ClinVar dbSNP
17g.43071022C>ACA10591740BRCA1c.4889G>T (p.Ser1630Ile)
c.4892G>T (p.Ser1631Ile)
c.4766G>T (p.Ser1589Ile)
c.4886G>T (p.Ser1629Ile)
c.4814G>T (p.Ser1605Ile)
c.1580G>T (p.Ser527Ile)
c.1442G>T (p.Ser481Ile)
c.4004G>T (p.Ser1335Ile)
c.4769G>T (p.Ser1590Ile)
c.4958G>T (p.Ser1653Ile)
c.4751G>T (p.Ser1584Ile)
c.1454G>T (p.Ser485Ile)
c.1499G>T (p.Ser500Ile)
c.4955G>T (p.Ser1652Ile)
c.1279G>T
c.1466G>T (p.Ser489Ile)
c.*4675G>T (n.*4675G>T)
n.45G>T
c.1205G>T (p.Ser402Ile)
c.5-7071G>T (n.5-7071G>T)
c.365G>T (p.Ser122Ile)
c.-98-20832G>T (n.-98-20832G>T)
n.5028G>T
n.5069G>T
 ClinVar dbSNP gnomAD v4
17g.43071022C=CA2260772846BRCA1c.4889G= (p.Ser1630=)
c.4892G= (p.Ser1631=)
c.4766G= (p.Ser1589=)
c.4886G= (p.Ser1629=)
c.4814G= (p.Ser1605=)
c.1580G= (p.Ser527=)
c.1442G= (p.Ser481=)
c.4004G= (p.Ser1335=)
c.4769G= (p.Ser1590=)
c.4958G= (p.Ser1653=)
c.4751G= (p.Ser1584=)
c.1454G= (p.Ser485=)
c.1499G= (p.Ser500=)
c.4955G= (p.Ser1652=)
c.1279G=
c.1466G= (p.Ser489=)
c.*4675G= (n.*4675G=)
n.45G=
c.1205G= (p.Ser402=)
c.5-7071G= (n.5-7071G=)
c.365G= (p.Ser122=)
c.-98-20832G= (n.-98-20832G=)
n.5028G=
n.5069G=
17g.43071022C>GCA10591741BRCA1c.4889G>C (p.Ser1630Thr)
c.4892G>C (p.Ser1631Thr)
c.4766G>C (p.Ser1589Thr)
c.4886G>C (p.Ser1629Thr)
c.4814G>C (p.Ser1605Thr)
c.1580G>C (p.Ser527Thr)
c.1442G>C (p.Ser481Thr)
c.4004G>C (p.Ser1335Thr)
c.4769G>C (p.Ser1590Thr)
c.4958G>C (p.Ser1653Thr)
c.4751G>C (p.Ser1584Thr)
c.1454G>C (p.Ser485Thr)
c.1499G>C (p.Ser500Thr)
c.4955G>C (p.Ser1652Thr)
c.1279G>C
c.1466G>C (p.Ser489Thr)
c.*4675G>C (n.*4675G>C)
n.45G>C
c.1205G>C (p.Ser402Thr)
c.5-7071G>C (n.5-7071G>C)
c.365G>C (p.Ser122Thr)
c.-98-20832G>C (n.-98-20832G>C)
n.5028G>C
n.5069G>C
 ClinVar dbSNP
17g.43071022C>TCA003067BRCA1c.4889G>A (p.Ser1630Asn)
c.4892G>A (p.Ser1631Asn)
c.4766G>A (p.Ser1589Asn)
c.4886G>A (p.Ser1629Asn)
c.4814G>A (p.Ser1605Asn)
c.1580G>A (p.Ser527Asn)
c.1442G>A (p.Ser481Asn)
c.4004G>A (p.Ser1335Asn)
c.4769G>A (p.Ser1590Asn)
c.4958G>A (p.Ser1653Asn)
c.4751G>A (p.Ser1584Asn)
c.1454G>A (p.Ser485Asn)
c.1499G>A (p.Ser500Asn)
c.4955G>A (p.Ser1652Asn)
c.1279G>A
c.1466G>A (p.Ser489Asn)
c.*4675G>A (n.*4675G>A)
n.45G>A
c.1205G>A (p.Ser402Asn)
c.5-7071G>A (n.5-7071G>A)
c.365G>A (p.Ser122Asn)
c.-98-20832G>A (n.-98-20832G>A)
n.5028G>A
n.5069G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43071022_43071023delinsCTCA2260772847BRCA1c.4888_4889delinsAG (p.Ser1630=)
c.4891_4892delinsAG (p.Ser1631=)
c.4765_4766delinsAG (p.Ser1589=)
c.4885_4886delinsAG (p.Ser1629=)
c.4813_4814delinsAG (p.Ser1605=)
c.1579_1580delinsAG (p.Ser527=)
c.1441_1442delinsAG (p.Ser481=)
c.4003_4004delinsAG (p.Ser1335=)
c.4768_4769delinsAG (p.Ser1590=)
c.4957_4958delinsAG (p.Ser1653=)
c.4750_4751delinsAG (p.Ser1584=)
c.1453_1454delinsAG (p.Ser485=)
c.1498_1499delinsAG (p.Ser500=)
c.4954_4955delinsAG (p.Ser1652=)
c.1278_1279delinsAG
c.1465_1466delinsAG (p.Ser489=)
c.*4674_*4675delinsAG (n.*4674_*4675delinsAG)
n.44_45delinsAG
c.1204_1205delinsAG (p.Ser402=)
c.5-7072_5-7071delinsAG (n.5-7072_5-7071delinsAG)
c.364_365delinsAG (p.Ser122=)
c.-98-20833_-98-20832delinsAG (n.-98-20833_-98-20832delinsAG)
n.5027_5028delinsAG
n.5068_5069delinsAG
17g.43071023T>ACA003066BRCA1c.4888A>T (p.Ser1630Cys)
c.4891A>T (p.Ser1631Cys)
c.4765A>T (p.Ser1589Cys)
c.4885A>T (p.Ser1629Cys)
c.4813A>T (p.Ser1605Cys)
c.1579A>T (p.Ser527Cys)
c.1441A>T (p.Ser481Cys)
c.4003A>T (p.Ser1335Cys)
c.4768A>T (p.Ser1590Cys)
c.4957A>T (p.Ser1653Cys)
c.4750A>T (p.Ser1584Cys)
c.1453A>T (p.Ser485Cys)
c.1498A>T (p.Ser500Cys)
c.4954A>T (p.Ser1652Cys)
c.1278A>T
c.1465A>T (p.Ser489Cys)
c.*4674A>T (n.*4674A>T)
n.44A>T
c.1204A>T (p.Ser402Cys)
c.5-7072A>T (n.5-7072A>T)
c.364A>T (p.Ser122Cys)
c.-98-20833A>T (n.-98-20833A>T)
n.5027A>T
n.5068A>T
 ClinVar dbSNP
17g.43071023T>CCA10591742BRCA1c.4888A>G (p.Ser1630Gly)
c.4891A>G (p.Ser1631Gly)
c.4765A>G (p.Ser1589Gly)
c.4885A>G (p.Ser1629Gly)
c.4813A>G (p.Ser1605Gly)
c.1579A>G (p.Ser527Gly)
c.1441A>G (p.Ser481Gly)
c.4003A>G (p.Ser1335Gly)
c.4768A>G (p.Ser1590Gly)
c.4957A>G (p.Ser1653Gly)
c.4750A>G (p.Ser1584Gly)
c.1453A>G (p.Ser485Gly)
c.1498A>G (p.Ser500Gly)
c.4954A>G (p.Ser1652Gly)
c.1278A>G
c.1465A>G (p.Ser489Gly)
c.*4674A>G (n.*4674A>G)
n.44A>G
c.1204A>G (p.Ser402Gly)
c.5-7072A>G (n.5-7072A>G)
c.364A>G (p.Ser122Gly)
c.-98-20833A>G (n.-98-20833A>G)
n.5027A>G
n.5068A>G
 ClinVar dbSNP
17g.43071023T>GCA10591743BRCA1c.4888A>C (p.Ser1630Arg)
c.4891A>C (p.Ser1631Arg)
c.4765A>C (p.Ser1589Arg)
c.4885A>C (p.Ser1629Arg)
c.4813A>C (p.Ser1605Arg)
c.1579A>C (p.Ser527Arg)
c.1441A>C (p.Ser481Arg)
c.4003A>C (p.Ser1335Arg)
c.4768A>C (p.Ser1590Arg)
c.4957A>C (p.Ser1653Arg)
c.4750A>C (p.Ser1584Arg)
c.1453A>C (p.Ser485Arg)
c.1498A>C (p.Ser500Arg)
c.4954A>C (p.Ser1652Arg)
c.1278A>C
c.1465A>C (p.Ser489Arg)
c.*4674A>C (n.*4674A>C)
n.44A>C
c.1204A>C (p.Ser402Arg)
c.5-7072A>C (n.5-7072A>C)
c.364A>C (p.Ser122Arg)
c.-98-20833A>C (n.-98-20833A>C)
n.5027A>C
n.5068A>C
 ClinVar dbSNP
17g.43071023T=CA2260772848BRCA1c.4888A= (p.Ser1630=)
c.4891A= (p.Ser1631=)
c.4765A= (p.Ser1589=)
c.4885A= (p.Ser1629=)
c.4813A= (p.Ser1605=)
c.1579A= (p.Ser527=)
c.1441A= (p.Ser481=)
c.4003A= (p.Ser1335=)
c.4768A= (p.Ser1590=)
c.4957A= (p.Ser1653=)
c.4750A= (p.Ser1584=)
c.1453A= (p.Ser485=)
c.1498A= (p.Ser500=)
c.4954A= (p.Ser1652=)
c.1278A=
c.1465A= (p.Ser489=)
c.*4674A= (n.*4674A=)
n.44A=
c.1204A= (p.Ser402=)
c.5-7072A= (n.5-7072A=)
c.364A= (p.Ser122=)
c.-98-20833A= (n.-98-20833A=)
n.5027A=
n.5068A=
17g.43071025dupCA003065BRCA1c.4888dup (p.Ser1630LysfsTer?)
c.4891dup (p.Ser1631LysfsTer?)
c.4765dup (p.Ser1589LysfsTer?)
c.4885dup (p.Ser1629LysfsTer?)
c.4813dup (p.Ser1605LysfsTer?)
c.1579dup (p.Ser527LysfsTer?)
c.1441dup (p.Ser481LysfsTer?)
c.4003dup (p.Ser1335LysfsTer?)
c.4768dup (p.Ser1590LysfsTer?)
c.4957dup (p.Ser1653LysfsTer?)
c.4750dup (p.Ser1584LysfsTer?)
c.1453dup (p.Ser485LysfsTer?)
c.1498dup (p.Ser500LysfsTer?)
c.4954dup (p.Ser1652LysfsTer?)
c.1278dup
c.1465dup (p.Ser489LysfsTer?)
c.*4674dup (n.*4674dup)
n.44dup
c.1204dup (p.Ser402LysfsTer?)
c.5-7072dup (n.5-7072dup)
c.364dup (p.Ser122LysfsTer?)
c.-98-20833dup (n.-98-20833dup)
n.5027dup
n.5068dup
 ClinVar dbSNP
17g.43071025delCA10589638BRCA1c.4888del (p.Ser1630ValfsTer2)
c.4891del (p.Ser1631ValfsTer2)
c.4765del (p.Ser1589ValfsTer2)
c.4885del (p.Ser1629ValfsTer2)
c.4813del (p.Ser1605ValfsTer2)
c.1579del (p.Ser527ValfsTer2)
c.1441del (p.Ser481ValfsTer2)
c.4003del (p.Ser1335ValfsTer2)
c.4768del (p.Ser1590ValfsTer2)
c.4957del (p.Ser1653ValfsTer2)
c.4750del (p.Ser1584ValfsTer2)
c.1453del (p.Ser485ValfsTer2)
c.1498del (p.Ser500ValfsTer2)
c.4954del (p.Ser1652ValfsTer2)
c.1278del
c.1465del (p.Ser489ValfsTer2)
c.*4674del (n.*4674del)
n.44del
c.1204del (p.Ser402ValfsTer2)
c.5-7072del (n.5-7072del)
c.364del (p.Ser122ValfsTer2)
c.-98-20833del (n.-98-20833del)
n.5027del
n.5068del
 ClinVar dbSNP
17g.43071024T>ACA10591744BRCA1c.4887A>T (p.Glu1629Asp)
c.4890A>T (p.Glu1630Asp)
c.4764A>T (p.Glu1588Asp)
c.4884A>T (p.Glu1628Asp)
c.4812A>T (p.Glu1604Asp)
c.1578A>T (p.Glu526Asp)
c.1440A>T (p.Glu480Asp)
c.4002A>T (p.Glu1334Asp)
c.4767A>T (p.Glu1589Asp)
c.4956A>T (p.Glu1652Asp)
c.4749A>T (p.Glu1583Asp)
c.1452A>T (p.Glu484Asp)
c.1497A>T (p.Glu499Asp)
c.4953A>T (p.Glu1651Asp)
c.1277A>T
c.1464A>T (p.Glu488Asp)
c.*4673A>T (n.*4673A>T)
n.43A>T
c.1203A>T (p.Glu401Asp)
c.5-7073A>T (n.5-7073A>T)
c.363A>T (p.Glu121Asp)
c.-98-20834A>T (n.-98-20834A>T)
n.5026A>T
n.5067A>T
 dbSNP
17g.43071024T>CCA500231736BRCA1c.4887A>G (p.Glu1629=)
c.4890A>G (p.Glu1630=)
c.4764A>G (p.Glu1588=)
c.4884A>G (p.Glu1628=)
c.4812A>G (p.Glu1604=)
c.1578A>G (p.Glu526=)
c.1440A>G (p.Glu480=)
c.4002A>G (p.Glu1334=)
c.4767A>G (p.Glu1589=)
c.4956A>G (p.Glu1652=)
c.4749A>G (p.Glu1583=)
c.1452A>G (p.Glu484=)
c.1497A>G (p.Glu499=)
c.4953A>G (p.Glu1651=)
c.1277A>G
c.1464A>G (p.Glu488=)
c.*4673A>G (n.*4673A>G)
n.43A>G
c.1203A>G (p.Glu401=)
c.5-7073A>G (n.5-7073A>G)
c.363A>G (p.Glu121=)
c.-98-20834A>G (n.-98-20834A>G)
n.5026A>G
n.5067A>G
 ClinVar dbSNP
17g.43071024T>GCA10591745BRCA1c.4887A>C (p.Glu1629Asp)
c.4890A>C (p.Glu1630Asp)
c.4764A>C (p.Glu1588Asp)
c.4884A>C (p.Glu1628Asp)
c.4812A>C (p.Glu1604Asp)
c.1578A>C (p.Glu526Asp)
c.1440A>C (p.Glu480Asp)
c.4002A>C (p.Glu1334Asp)
c.4767A>C (p.Glu1589Asp)
c.4956A>C (p.Glu1652Asp)
c.4749A>C (p.Glu1583Asp)
c.1452A>C (p.Glu484Asp)
c.1497A>C (p.Glu499Asp)
c.4953A>C (p.Glu1651Asp)
c.1277A>C
c.1464A>C (p.Glu488Asp)
c.*4673A>C (n.*4673A>C)
n.43A>C
c.1203A>C (p.Glu401Asp)
c.5-7073A>C (n.5-7073A>C)
c.363A>C (p.Glu121Asp)
c.-98-20834A>C (n.-98-20834A>C)
n.5026A>C
n.5067A>C
17g.43071024_43071026delinsTTCCA2260772849BRCA1c.4885_4887delinsGAA (p.Glu1629=)
c.4888_4890delinsGAA (p.Glu1630=)
c.4762_4764delinsGAA (p.Glu1588=)
c.4882_4884delinsGAA (p.Glu1628=)
c.4810_4812delinsGAA (p.Glu1604=)
c.1576_1578delinsGAA (p.Glu526=)
c.1438_1440delinsGAA (p.Glu480=)
c.4000_4002delinsGAA (p.Glu1334=)
c.4765_4767delinsGAA (p.Glu1589=)
c.4954_4956delinsGAA (p.Glu1652=)
c.4747_4749delinsGAA (p.Glu1583=)
c.1450_1452delinsGAA (p.Glu484=)
c.1495_1497delinsGAA (p.Glu499=)
c.4951_4953delinsGAA (p.Glu1651=)
c.1275_1277delinsGAA
c.1462_1464delinsGAA (p.Glu488=)
c.*4671_*4673delinsGAA (n.*4671_*4673delinsGAA)
n.41_43delinsGAA
c.1201_1203delinsGAA (p.Glu401=)
c.5-7075_5-7073delinsGAA (n.5-7075_5-7073delinsGAA)
c.361_363delinsGAA (p.Glu121=)
c.-98-20836_-98-20834delinsGAA (n.-98-20836_-98-20834delinsGAA)
n.5024_5026delinsGAA
n.5065_5067delinsGAA
17g.43071026_43071033delCA2582342171BRCA1c.4880_4887del (p.Met1627LysfsTer?)
c.4883_4890del (p.Met1628LysfsTer?)
c.4757_4764del (p.Met1586LysfsTer?)
c.4877_4884del (p.Met1626LysfsTer?)
c.4805_4812del (p.Met1602LysfsTer?)
c.1571_1578del (p.Met524LysfsTer?)
c.1433_1440del (p.Met478LysfsTer?)
c.3995_4002del (p.Met1332LysfsTer?)
c.4760_4767del (p.Met1587LysfsTer?)
c.4949_4956del (p.Met1650LysfsTer?)
c.4742_4749del (p.Met1581LysfsTer?)
c.1445_1452del (p.Met482LysfsTer?)
c.1490_1497del (p.Met497LysfsTer?)
c.4946_4953del (p.Met1649LysfsTer?)
c.1270_1277del
c.1457_1464del (p.Met486LysfsTer?)
c.*4666_*4673del (n.*4666_*4673del)
n.36_43del
c.1196_1203del (p.Met399LysfsTer?)
c.5-7080_5-7073del (n.5-7080_5-7073del)
c.356_363del (p.Met119LysfsTer?)
c.-98-20841_-98-20834del (n.-98-20841_-98-20834del)
n.5019_5026del
n.5060_5067del
 ClinVar
17g.43071025T>ACA10591746BRCA1c.4886A>T (p.Glu1629Val)
c.4889A>T (p.Glu1630Val)
c.4763A>T (p.Glu1588Val)
c.4883A>T (p.Glu1628Val)
c.4811A>T (p.Glu1604Val)
c.1577A>T (p.Glu526Val)
c.1439A>T (p.Glu480Val)
c.4001A>T (p.Glu1334Val)
c.4766A>T (p.Glu1589Val)
c.4955A>T (p.Glu1652Val)
c.4748A>T (p.Glu1583Val)
c.1451A>T (p.Glu484Val)
c.1496A>T (p.Glu499Val)
c.4952A>T (p.Glu1651Val)
c.1276A>T
c.1463A>T (p.Glu488Val)
c.*4672A>T (n.*4672A>T)
n.42A>T
c.1202A>T (p.Glu401Val)
c.5-7074A>T (n.5-7074A>T)
c.362A>T (p.Glu121Val)
c.-98-20835A>T (n.-98-20835A>T)
n.5025A>T
n.5066A>T
17g.43071025T>CCA10591747BRCA1c.4886A>G (p.Glu1629Gly)
c.4889A>G (p.Glu1630Gly)
c.4763A>G (p.Glu1588Gly)
c.4883A>G (p.Glu1628Gly)
c.4811A>G (p.Glu1604Gly)
c.1577A>G (p.Glu526Gly)
c.1439A>G (p.Glu480Gly)
c.4001A>G (p.Glu1334Gly)
c.4766A>G (p.Glu1589Gly)
c.4955A>G (p.Glu1652Gly)
c.4748A>G (p.Glu1583Gly)
c.1451A>G (p.Glu484Gly)
c.1496A>G (p.Glu499Gly)
c.4952A>G (p.Glu1651Gly)
c.1276A>G
c.1463A>G (p.Glu488Gly)
c.*4672A>G (n.*4672A>G)
n.42A>G
c.1202A>G (p.Glu401Gly)
c.5-7074A>G (n.5-7074A>G)
c.362A>G (p.Glu121Gly)
c.-98-20835A>G (n.-98-20835A>G)
n.5025A>G
n.5066A>G
 ClinVar dbSNP gnomAD v4
17g.43071025T>GCA10591748BRCA1c.4886A>C (p.Glu1629Ala)
c.4889A>C (p.Glu1630Ala)
c.4763A>C (p.Glu1588Ala)
c.4883A>C (p.Glu1628Ala)
c.4811A>C (p.Glu1604Ala)
c.1577A>C (p.Glu526Ala)
c.1439A>C (p.Glu480Ala)
c.4001A>C (p.Glu1334Ala)
c.4766A>C (p.Glu1589Ala)
c.4955A>C (p.Glu1652Ala)
c.4748A>C (p.Glu1583Ala)
c.1451A>C (p.Glu484Ala)
c.1496A>C (p.Glu499Ala)
c.4952A>C (p.Glu1651Ala)
c.1276A>C
c.1463A>C (p.Glu488Ala)
c.*4672A>C (n.*4672A>C)
n.42A>C
c.1202A>C (p.Glu401Ala)
c.5-7074A>C (n.5-7074A>C)
c.362A>C (p.Glu121Ala)
c.-98-20835A>C (n.-98-20835A>C)
n.5025A>C
n.5066A>C
17g.43071026_43071027delCA10586110BRCA1c.4885_4886del (p.Glu1629LysfsTer?)
c.4888_4889del (p.Glu1630LysfsTer?)
c.4762_4763del (p.Glu1588LysfsTer?)
c.4882_4883del (p.Glu1628LysfsTer?)
c.4810_4811del (p.Glu1604LysfsTer?)
c.1576_1577del (p.Glu526LysfsTer?)
c.1438_1439del (p.Glu480LysfsTer?)
c.4000_4001del (p.Glu1334LysfsTer?)
c.4765_4766del (p.Glu1589LysfsTer?)
c.4954_4955del (p.Glu1652LysfsTer?)
c.4747_4748del (p.Glu1583LysfsTer?)
c.1450_1451del (p.Glu484LysfsTer?)
c.1495_1496del (p.Glu499LysfsTer?)
c.4951_4952del (p.Glu1651LysfsTer?)
c.1275_1276del
c.1462_1463del (p.Glu488LysfsTer?)
c.*4671_*4672del (n.*4671_*4672del)
n.41_42del
c.1201_1202del (p.Glu401LysfsTer?)
c.5-7075_5-7074del (n.5-7075_5-7074del)
c.361_362del (p.Glu121LysfsTer?)
c.-98-20836_-98-20835del (n.-98-20836_-98-20835del)
n.5024_5025del
n.5065_5066del
 ClinVar dbSNP
17g.43071026C>ACA10591749BRCA1c.4885G>T (p.Glu1629Ter)
c.4888G>T (p.Glu1630Ter)
c.4762G>T (p.Glu1588Ter)
c.4882G>T (p.Glu1628Ter)
c.4810G>T (p.Glu1604Ter)
c.1576G>T (p.Glu526Ter)
c.1438G>T (p.Glu480Ter)
c.4000G>T (p.Glu1334Ter)
c.4765G>T (p.Glu1589Ter)
c.4954G>T (p.Glu1652Ter)
c.4747G>T (p.Glu1583Ter)
c.1450G>T (p.Glu484Ter)
c.1495G>T (p.Glu499Ter)
c.4951G>T (p.Glu1651Ter)
c.1275G>T
c.1462G>T (p.Glu488Ter)
c.*4671G>T (n.*4671G>T)
n.41G>T
c.1201G>T (p.Glu401Ter)
c.5-7075G>T (n.5-7075G>T)
c.361G>T (p.Glu121Ter)
c.-98-20836G>T (n.-98-20836G>T)
n.5024G>T
n.5065G>T
 ClinVar dbSNP
17g.43071026C=CA2260772851BRCA1c.4885G= (p.Glu1629=)
c.4888G= (p.Glu1630=)
c.4762G= (p.Glu1588=)
c.4882G= (p.Glu1628=)
c.4810G= (p.Glu1604=)
c.1576G= (p.Glu526=)
c.1438G= (p.Glu480=)
c.4000G= (p.Glu1334=)
c.4765G= (p.Glu1589=)
c.4954G= (p.Glu1652=)
c.4747G= (p.Glu1583=)
c.1450G= (p.Glu484=)
c.1495G= (p.Glu499=)
c.4951G= (p.Glu1651=)
c.1275G=
c.1462G= (p.Glu488=)
c.*4671G= (n.*4671G=)
n.41G=
c.1201G= (p.Glu401=)
c.5-7075G= (n.5-7075G=)
c.361G= (p.Glu121=)
c.-98-20836G= (n.-98-20836G=)
n.5024G=
n.5065G=
17g.43071026C>GCA10591750BRCA1c.4885G>C (p.Glu1629Gln)
c.4888G>C (p.Glu1630Gln)
c.4762G>C (p.Glu1588Gln)
c.4882G>C (p.Glu1628Gln)
c.4810G>C (p.Glu1604Gln)
c.1576G>C (p.Glu526Gln)
c.1438G>C (p.Glu480Gln)
c.4000G>C (p.Glu1334Gln)
c.4765G>C (p.Glu1589Gln)
c.4954G>C (p.Glu1652Gln)
c.4747G>C (p.Glu1583Gln)
c.1450G>C (p.Glu484Gln)
c.1495G>C (p.Glu499Gln)
c.4951G>C (p.Glu1651Gln)
c.1275G>C
c.1462G>C (p.Glu488Gln)
c.*4671G>C (n.*4671G>C)
n.41G>C
c.1201G>C (p.Glu401Gln)
c.5-7075G>C (n.5-7075G>C)
c.361G>C (p.Glu121Gln)
c.-98-20836G>C (n.-98-20836G>C)
n.5024G>C
n.5065G>C
 dbSNP
17g.43071026C>TCA10591751BRCA1c.4885G>A (p.Glu1629Lys)
c.4888G>A (p.Glu1630Lys)
c.4762G>A (p.Glu1588Lys)
c.4882G>A (p.Glu1628Lys)
c.4810G>A (p.Glu1604Lys)
c.1576G>A (p.Glu526Lys)
c.1438G>A (p.Glu480Lys)
c.4000G>A (p.Glu1334Lys)
c.4765G>A (p.Glu1589Lys)
c.4954G>A (p.Glu1652Lys)
c.4747G>A (p.Glu1583Lys)
c.1450G>A (p.Glu484Lys)
c.1495G>A (p.Glu499Lys)
c.4951G>A (p.Glu1651Lys)
c.1275G>A
c.1462G>A (p.Glu488Lys)
c.*4671G>A (n.*4671G>A)
n.41G>A
c.1201G>A (p.Glu401Lys)
c.5-7075G>A (n.5-7075G>A)
c.361G>A (p.Glu121Lys)
c.-98-20836G>A (n.-98-20836G>A)
n.5024G>A
n.5065G>A
 ClinVar dbSNP gnomAD v4
17g.43071026_43071027delinsCTCA2260772850BRCA1c.4884_4885delinsAG (p.Glu1628=)
c.4887_4888delinsAG (p.Glu1629=)
c.4761_4762delinsAG (p.Glu1587=)
c.4881_4882delinsAG (p.Glu1627=)
c.4809_4810delinsAG (p.Glu1603=)
c.1575_1576delinsAG (p.Glu525=)
c.1437_1438delinsAG (p.Glu479=)
c.3999_4000delinsAG (p.Glu1333=)
c.4764_4765delinsAG (p.Glu1588=)
c.4953_4954delinsAG (p.Glu1651=)
c.4746_4747delinsAG (p.Glu1582=)
c.1449_1450delinsAG (p.Glu483=)
c.1494_1495delinsAG (p.Glu498=)
c.4950_4951delinsAG (p.Glu1650=)
c.1274_1275delinsAG
c.1461_1462delinsAG (p.Glu487=)
c.*4670_*4671delinsAG (n.*4670_*4671delinsAG)
n.40_41delinsAG
c.1200_1201delinsAG (p.Glu400=)
c.5-7076_5-7075delinsAG (n.5-7076_5-7075delinsAG)
c.360_361delinsAG (p.Glu120=)
c.-98-20837_-98-20836delinsAG (n.-98-20837_-98-20836delinsAG)
n.5023_5024delinsAG
n.5064_5065delinsAG
17g.43071026_43071027insGCA919844193BRCA1c.4884_4885insC (p.Glu1629ArgfsTer?)
c.4887_4888insC (p.Glu1630ArgfsTer?)
c.4761_4762insC (p.Glu1588ArgfsTer?)
c.4881_4882insC (p.Glu1628ArgfsTer?)
c.4809_4810insC (p.Glu1604ArgfsTer?)
c.1575_1576insC (p.Glu526ArgfsTer?)
c.1437_1438insC (p.Glu480ArgfsTer?)
c.3999_4000insC (p.Glu1334ArgfsTer?)
c.4764_4765insC (p.Glu1589ArgfsTer?)
c.4953_4954insC (p.Glu1652ArgfsTer?)
c.4746_4747insC (p.Glu1583ArgfsTer?)
c.1449_1450insC (p.Glu484ArgfsTer?)
c.1494_1495insC (p.Glu499ArgfsTer?)
c.4950_4951insC (p.Glu1651ArgfsTer?)
c.1274_1275insC
c.1461_1462insC (p.Glu488ArgfsTer?)
c.*4670_*4671insC (n.*4670_*4671insC)
n.40_41insC
c.1200_1201insC (p.Glu401ArgfsTer?)
c.5-7076_5-7075insC (n.5-7076_5-7075insC)
c.360_361insC (p.Glu121ArgfsTer?)
c.-98-20837_-98-20836insC (n.-98-20837_-98-20836insC)
n.5023_5024insC
n.5064_5065insC
 dbSNP
17g.43071027T>ACA10591752BRCA1c.4884A>T (p.Glu1628Asp)
c.4887A>T (p.Glu1629Asp)
c.4761A>T (p.Glu1587Asp)
c.4881A>T (p.Glu1627Asp)
c.4809A>T (p.Glu1603Asp)
c.1575A>T (p.Glu525Asp)
c.1437A>T (p.Glu479Asp)
c.3999A>T (p.Glu1333Asp)
c.4764A>T (p.Glu1588Asp)
c.4953A>T (p.Glu1651Asp)
c.4746A>T (p.Glu1582Asp)
c.1449A>T (p.Glu483Asp)
c.1494A>T (p.Glu498Asp)
c.4950A>T (p.Glu1650Asp)
c.1274A>T
c.1461A>T (p.Glu487Asp)
c.*4670A>T (n.*4670A>T)
n.40A>T
c.1200A>T (p.Glu400Asp)
c.5-7076A>T (n.5-7076A>T)
c.360A>T (p.Glu120Asp)
c.-98-20837A>T (n.-98-20837A>T)
n.5023A>T
n.5064A>T
 dbSNP
17g.43071027T>CCA500231742BRCA1c.4884A>G (p.Glu1628=)
c.4887A>G (p.Glu1629=)
c.4761A>G (p.Glu1587=)
c.4881A>G (p.Glu1627=)
c.4809A>G (p.Glu1603=)
c.1575A>G (p.Glu525=)
c.1437A>G (p.Glu479=)
c.3999A>G (p.Glu1333=)
c.4764A>G (p.Glu1588=)
c.4953A>G (p.Glu1651=)
c.4746A>G (p.Glu1582=)
c.1449A>G (p.Glu483=)
c.1494A>G (p.Glu498=)
c.4950A>G (p.Glu1650=)
c.1274A>G
c.1461A>G (p.Glu487=)
c.*4670A>G (n.*4670A>G)
n.40A>G
c.1200A>G (p.Glu400=)
c.5-7076A>G (n.5-7076A>G)
c.360A>G (p.Glu120=)
c.-98-20837A>G (n.-98-20837A>G)
n.5023A>G
n.5064A>G
17g.43071027T>GCA10591753BRCA1c.4884A>C (p.Glu1628Asp)
c.4887A>C (p.Glu1629Asp)
c.4761A>C (p.Glu1587Asp)
c.4881A>C (p.Glu1627Asp)
c.4809A>C (p.Glu1603Asp)
c.1575A>C (p.Glu525Asp)
c.1437A>C (p.Glu479Asp)
c.3999A>C (p.Glu1333Asp)
c.4764A>C (p.Glu1588Asp)
c.4953A>C (p.Glu1651Asp)
c.4746A>C (p.Glu1582Asp)
c.1449A>C (p.Glu483Asp)
c.1494A>C (p.Glu498Asp)
c.4950A>C (p.Glu1650Asp)
c.1274A>C
c.1461A>C (p.Glu487Asp)
c.*4670A>C (n.*4670A>C)
n.40A>C
c.1200A>C (p.Glu400Asp)
c.5-7076A>C (n.5-7076A>C)
c.360A>C (p.Glu120Asp)
c.-98-20837A>C (n.-98-20837A>C)
n.5023A>C
n.5064A>C
17g.43071027_43071028delinsGCA2499224390BRCA1c.4883_4884delinsC (p.Glu1628AlafsTer4)
c.4886_4887delinsC (p.Glu1629AlafsTer4)
c.4760_4761delinsC (p.Glu1587AlafsTer4)
c.4880_4881delinsC (p.Glu1627AlafsTer4)
c.4808_4809delinsC (p.Glu1603AlafsTer4)
c.1574_1575delinsC (p.Glu525AlafsTer4)
c.1436_1437delinsC (p.Glu479AlafsTer4)
c.3998_3999delinsC (p.Glu1333AlafsTer4)
c.4763_4764delinsC (p.Glu1588AlafsTer4)
c.4952_4953delinsC (p.Glu1651AlafsTer4)
c.4745_4746delinsC (p.Glu1582AlafsTer4)
c.1448_1449delinsC (p.Glu483AlafsTer4)
c.1493_1494delinsC (p.Glu498AlafsTer4)
c.4949_4950delinsC (p.Glu1650AlafsTer4)
c.1273_1274delinsC
c.1460_1461delinsC (p.Glu487AlafsTer4)
c.*4669_*4670delinsC (n.*4669_*4670delinsC)
n.39_40delinsC
c.1199_1200delinsC (p.Glu400AlafsTer4)
c.5-7077_5-7076delinsC (n.5-7077_5-7076delinsC)
c.359_360delinsC (p.Glu120AlafsTer4)
c.-98-20838_-98-20837delinsC (n.-98-20838_-98-20837delinsC)
n.5022_5023delinsC
n.5063_5064delinsC
17g.43071028delCA919844194BRCA1c.4884del (p.Glu1629LysfsTer3)
c.4887del (p.Glu1630LysfsTer3)
c.4761del (p.Glu1588LysfsTer3)
c.4881del (p.Glu1628LysfsTer3)
c.4809del (p.Glu1604LysfsTer3)
c.1575del (p.Glu526LysfsTer3)
c.1437del (p.Glu480LysfsTer3)
c.3999del (p.Glu1334LysfsTer3)
c.4764del (p.Glu1589LysfsTer3)
c.4953del (p.Glu1652LysfsTer3)
c.4746del (p.Glu1583LysfsTer3)
c.1449del (p.Glu484LysfsTer3)
c.1494del (p.Glu499LysfsTer3)
c.4950del (p.Glu1651LysfsTer3)
c.1274del
c.1461del (p.Glu488LysfsTer3)
c.*4670del (n.*4670del)
n.40del
c.1200del (p.Glu401LysfsTer3)
c.5-7076del (n.5-7076del)
c.360del (p.Glu121LysfsTer3)
c.-98-20837del (n.-98-20837del)
n.5023del
n.5064del
 dbSNP
17g.43071028T>ACA10591754BRCA1c.4883A>T (p.Glu1628Val)
c.4886A>T (p.Glu1629Val)
c.4760A>T (p.Glu1587Val)
c.4880A>T (p.Glu1627Val)
c.4808A>T (p.Glu1603Val)
c.1574A>T (p.Glu525Val)
c.1436A>T (p.Glu479Val)
c.3998A>T (p.Glu1333Val)
c.4763A>T (p.Glu1588Val)
c.4952A>T (p.Glu1651Val)
c.4745A>T (p.Glu1582Val)
c.1448A>T (p.Glu483Val)
c.1493A>T (p.Glu498Val)
c.4949A>T (p.Glu1650Val)
c.1273A>T
c.1460A>T (p.Glu487Val)
c.*4669A>T (n.*4669A>T)
n.39A>T
c.1199A>T (p.Glu400Val)
c.5-7077A>T (n.5-7077A>T)
c.359A>T (p.Glu120Val)
c.-98-20838A>T (n.-98-20838A>T)
n.5022A>T
n.5063A>T
 dbSNP
17g.43071028T>CCA10591755BRCA1c.4883A>G (p.Glu1628Gly)
c.4886A>G (p.Glu1629Gly)
c.4760A>G (p.Glu1587Gly)
c.4880A>G (p.Glu1627Gly)
c.4808A>G (p.Glu1603Gly)
c.1574A>G (p.Glu525Gly)
c.1436A>G (p.Glu479Gly)
c.3998A>G (p.Glu1333Gly)
c.4763A>G (p.Glu1588Gly)
c.4952A>G (p.Glu1651Gly)
c.4745A>G (p.Glu1582Gly)
c.1448A>G (p.Glu483Gly)
c.1493A>G (p.Glu498Gly)
c.4949A>G (p.Glu1650Gly)
c.1273A>G
c.1460A>G (p.Glu487Gly)
c.*4669A>G (n.*4669A>G)
n.39A>G
c.1199A>G (p.Glu400Gly)
c.5-7077A>G (n.5-7077A>G)
c.359A>G (p.Glu120Gly)
c.-98-20838A>G (n.-98-20838A>G)
n.5022A>G
n.5063A>G
 ClinVar dbSNP
17g.43071028T>GCA10591756BRCA1c.4883A>C (p.Glu1628Ala)
c.4886A>C (p.Glu1629Ala)
c.4760A>C (p.Glu1587Ala)
c.4880A>C (p.Glu1627Ala)
c.4808A>C (p.Glu1603Ala)
c.1574A>C (p.Glu525Ala)
c.1436A>C (p.Glu479Ala)
c.3998A>C (p.Glu1333Ala)
c.4763A>C (p.Glu1588Ala)
c.4952A>C (p.Glu1651Ala)
c.4745A>C (p.Glu1582Ala)
c.1448A>C (p.Glu483Ala)
c.1493A>C (p.Glu498Ala)
c.4949A>C (p.Glu1650Ala)
c.1273A>C
c.1460A>C (p.Glu487Ala)
c.*4669A>C (n.*4669A>C)
n.39A>C
c.1199A>C (p.Glu400Ala)
c.5-7077A>C (n.5-7077A>C)
c.359A>C (p.Glu120Ala)
c.-98-20838A>C (n.-98-20838A>C)
n.5022A>C
n.5063A>C
17g.43071028_43071029delinsTCCA2260772852BRCA1c.4882_4883delinsGA (p.Glu1628=)
c.4885_4886delinsGA (p.Glu1629=)
c.4759_4760delinsGA (p.Glu1587=)
c.4879_4880delinsGA (p.Glu1627=)
c.4807_4808delinsGA (p.Glu1603=)
c.1573_1574delinsGA (p.Glu525=)
c.1435_1436delinsGA (p.Glu479=)
c.3997_3998delinsGA (p.Glu1333=)
c.4762_4763delinsGA (p.Glu1588=)
c.4951_4952delinsGA (p.Glu1651=)
c.4744_4745delinsGA (p.Glu1582=)
c.1447_1448delinsGA (p.Glu483=)
c.1492_1493delinsGA (p.Glu498=)
c.4948_4949delinsGA (p.Glu1650=)
c.1272_1273delinsGA
c.1459_1460delinsGA (p.Glu487=)
c.*4668_*4669delinsGA (n.*4668_*4669delinsGA)
n.38_39delinsGA
c.1198_1199delinsGA (p.Glu400=)
c.5-7078_5-7077delinsGA (n.5-7078_5-7077delinsGA)
c.358_359delinsGA (p.Glu120=)
c.-98-20839_-98-20838delinsGA (n.-98-20839_-98-20838delinsGA)
n.5021_5022delinsGA
n.5062_5063delinsGA
17g.43071028_43071041delinsTCCATTGCATTATACA2260772853BRCA1c.4870_4883delinsTATAATGCAATGGA (p.Tyr1624=)
c.4873_4886delinsTATAATGCAATGGA (p.Tyr1625=)
c.4747_4760delinsTATAATGCAATGGA (p.Tyr1583=)
c.4867_4880delinsTATAATGCAATGGA (p.Tyr1623=)
c.4795_4808delinsTATAATGCAATGGA (p.Tyr1599=)
c.1561_1574delinsTATAATGCAATGGA (p.Tyr521=)
c.1423_1436delinsTATAATGCAATGGA (p.Tyr475=)
c.3985_3998delinsTATAATGCAATGGA (p.Tyr1329=)
c.4750_4763delinsTATAATGCAATGGA (p.Tyr1584=)
c.4939_4952delinsTATAATGCAATGGA (p.Tyr1647=)
c.4732_4745delinsTATAATGCAATGGA (p.Tyr1578=)
c.1435_1448delinsTATAATGCAATGGA (p.Tyr479=)
c.1480_1493delinsTATAATGCAATGGA (p.Tyr494=)
c.4936_4949delinsTATAATGCAATGGA (p.Tyr1646=)
c.1260_1273delinsTATAATGCAATGGA
c.1447_1460delinsTATAATGCAATGGA (p.Tyr483=)
c.*4656_*4669delinsTATAATGCAATGGA (n.*4656_*4669delinsTATAATGCAATGGA)
n.26_39delinsTATAATGCAATGGA
c.1186_1199delinsTATAATGCAATGGA (p.Tyr396=)
c.5-7090_5-7077delinsTATAATGCAATGGA (n.5-7090_5-7077delinsTATAATGCAATGGA)
c.346_359delinsTATAATGCAATGGA (p.Tyr116=)
c.-98-20851_-98-20838delinsTATAATGCAATGGA (n.-98-20851_-98-20838delinsTATAATGCAATGGA)
n.5009_5022delinsTATAATGCAATGGA
n.5050_5063delinsTATAATGCAATGGA
17g.43071029C>ACA10591757BRCA1c.4882G>T (p.Glu1628Ter)
c.4885G>T (p.Glu1629Ter)
c.4759G>T (p.Glu1587Ter)
c.4879G>T (p.Glu1627Ter)
c.4807G>T (p.Glu1603Ter)
c.1573G>T (p.Glu525Ter)
c.1435G>T (p.Glu479Ter)
c.3997G>T (p.Glu1333Ter)
c.4762G>T (p.Glu1588Ter)
c.4951G>T (p.Glu1651Ter)
c.4744G>T (p.Glu1582Ter)
c.1447G>T (p.Glu483Ter)
c.1492G>T (p.Glu498Ter)
c.4948G>T (p.Glu1650Ter)
c.1272G>T
c.1459G>T (p.Glu487Ter)
c.*4668G>T (n.*4668G>T)
n.38G>T
c.1198G>T (p.Glu400Ter)
c.5-7078G>T (n.5-7078G>T)
c.358G>T (p.Glu120Ter)
c.-98-20839G>T (n.-98-20839G>T)
n.5021G>T
n.5062G>T
 dbSNP
17g.43071029C>GCA10591758BRCA1c.4882G>C (p.Glu1628Gln)
c.4885G>C (p.Glu1629Gln)
c.4759G>C (p.Glu1587Gln)
c.4879G>C (p.Glu1627Gln)
c.4807G>C (p.Glu1603Gln)
c.1573G>C (p.Glu525Gln)
c.1435G>C (p.Glu479Gln)
c.3997G>C (p.Glu1333Gln)
c.4762G>C (p.Glu1588Gln)
c.4951G>C (p.Glu1651Gln)
c.4744G>C (p.Glu1582Gln)
c.1447G>C (p.Glu483Gln)
c.1492G>C (p.Glu498Gln)
c.4948G>C (p.Glu1650Gln)
c.1272G>C
c.1459G>C (p.Glu487Gln)
c.*4668G>C (n.*4668G>C)
n.38G>C
c.1198G>C (p.Glu400Gln)
c.5-7078G>C (n.5-7078G>C)
c.358G>C (p.Glu120Gln)
c.-98-20839G>C (n.-98-20839G>C)
n.5021G>C
n.5062G>C
 dbSNP
17g.43071029C>TCA10591759BRCA1c.4882G>A (p.Glu1628Lys)
c.4885G>A (p.Glu1629Lys)
c.4759G>A (p.Glu1587Lys)
c.4879G>A (p.Glu1627Lys)
c.4807G>A (p.Glu1603Lys)
c.1573G>A (p.Glu525Lys)
c.1435G>A (p.Glu479Lys)
c.3997G>A (p.Glu1333Lys)
c.4762G>A (p.Glu1588Lys)
c.4951G>A (p.Glu1651Lys)
c.4744G>A (p.Glu1582Lys)
c.1447G>A (p.Glu483Lys)
c.1492G>A (p.Glu498Lys)
c.4948G>A (p.Glu1650Lys)
c.1272G>A
c.1459G>A (p.Glu487Lys)
c.*4668G>A (n.*4668G>A)
n.38G>A
c.1198G>A (p.Glu400Lys)
c.5-7078G>A (n.5-7078G>A)
c.358G>A (p.Glu120Lys)
c.-98-20839G>A (n.-98-20839G>A)
n.5021G>A
n.5062G>A
 dbSNP
17g.43071030dupCA10589639BRCA1c.4882dup (p.Glu1628GlyfsTer?)
c.4885dup (p.Glu1629GlyfsTer?)
c.4759dup (p.Glu1587GlyfsTer?)
c.4879dup (p.Glu1627GlyfsTer?)
c.4807dup (p.Glu1603GlyfsTer?)
c.1573dup (p.Glu525GlyfsTer?)
c.1435dup (p.Glu479GlyfsTer?)
c.3997dup (p.Glu1333GlyfsTer?)
c.4762dup (p.Glu1588GlyfsTer?)
c.4951dup (p.Glu1651GlyfsTer?)
c.4744dup (p.Glu1582GlyfsTer?)
c.1447dup (p.Glu483GlyfsTer?)
c.1492dup (p.Glu498GlyfsTer?)
c.4948dup (p.Glu1650GlyfsTer?)
c.1272dup
c.1459dup (p.Glu487GlyfsTer?)
c.*4668dup (n.*4668dup)
n.38dup
c.1198dup (p.Glu400GlyfsTer?)
c.5-7078dup (n.5-7078dup)
c.358dup (p.Glu120GlyfsTer?)
c.-98-20839dup (n.-98-20839dup)
n.5021dup
n.5062dup
 ClinVar dbSNP
17g.43071030delCA658825003BRCA1c.4882del (p.Glu1628LysfsTer4)
c.4885del (p.Glu1629LysfsTer4)
c.4759del (p.Glu1587LysfsTer4)
c.4879del (p.Glu1627LysfsTer4)
c.4807del (p.Glu1603LysfsTer4)
c.1573del (p.Glu525LysfsTer4)
c.1435del (p.Glu479LysfsTer4)
c.3997del (p.Glu1333LysfsTer4)
c.4762del (p.Glu1588LysfsTer4)
c.4951del (p.Glu1651LysfsTer4)
c.4744del (p.Glu1582LysfsTer4)
c.1447del (p.Glu483LysfsTer4)
c.1492del (p.Glu498LysfsTer4)
c.4948del (p.Glu1650LysfsTer4)
c.1272del
c.1459del (p.Glu487LysfsTer4)
c.*4668del (n.*4668del)
n.38del
c.1198del (p.Glu400LysfsTer4)
c.5-7078del (n.5-7078del)
c.358del (p.Glu120LysfsTer4)
c.-98-20839del (n.-98-20839del)
n.5021del
n.5062del
 ClinVar dbSNP
17g.43071031_43071043delCA003059BRCA1c.4870_4882del (p.Tyr1624LysfsTer4)
c.4873_4885del (p.Tyr1625LysfsTer4)
c.4747_4759del (p.Tyr1583LysfsTer4)
c.4867_4879del (p.Tyr1623LysfsTer4)
c.4795_4807del (p.Tyr1599LysfsTer4)
c.1561_1573del (p.Tyr521LysfsTer4)
c.1423_1435del (p.Tyr475LysfsTer4)
c.3985_3997del (p.Tyr1329LysfsTer4)
c.4750_4762del (p.Tyr1584LysfsTer4)
c.4939_4951del (p.Tyr1647LysfsTer4)
c.4732_4744del (p.Tyr1578LysfsTer4)
c.1435_1447del (p.Tyr479LysfsTer4)
c.1480_1492del (p.Tyr494LysfsTer4)
c.4936_4948del (p.Tyr1646LysfsTer4)
c.1260_1272del
c.1447_1459del (p.Tyr483LysfsTer4)
c.*4656_*4668del (n.*4656_*4668del)
n.26_38del
c.1186_1198del (p.Tyr396LysfsTer4)
c.5-7090_5-7078del (n.5-7090_5-7078del)
c.346_358del (p.Tyr116LysfsTer4)
c.-98-20851_-98-20839del (n.-98-20851_-98-20839del)
n.5009_5021del
n.5050_5062del
 ClinVar dbSNP
17g.43071030C>ACA003063BRCA1c.4881G>T (p.Met1627Ile)
c.4884G>T (p.Met1628Ile)
c.4758G>T (p.Met1586Ile)
c.4878G>T (p.Met1626Ile)
c.4806G>T (p.Met1602Ile)
c.1572G>T (p.Met524Ile)
c.1434G>T (p.Met478Ile)
c.3996G>T (p.Met1332Ile)
c.4761G>T (p.Met1587Ile)
c.4950G>T (p.Met1650Ile)
c.4743G>T (p.Met1581Ile)
c.1446G>T (p.Met482Ile)
c.1491G>T (p.Met497Ile)
c.4947G>T (p.Met1649Ile)
c.1271G>T
c.1458G>T (p.Met486Ile)
c.*4667G>T (n.*4667G>T)
n.37G>T
c.1197G>T (p.Met399Ile)
c.5-7079G>T (n.5-7079G>T)
c.357G>T (p.Met119Ile)
c.-98-20840G>T (n.-98-20840G>T)
n.5020G>T
n.5061G>T
 ClinVar dbSNP
17g.43071030C=CA2260772854BRCA1c.4881G= (p.Met1627=)
c.4884G= (p.Met1628=)
c.4758G= (p.Met1586=)
c.4878G= (p.Met1626=)
c.4806G= (p.Met1602=)
c.1572G= (p.Met524=)
c.1434G= (p.Met478=)
c.3996G= (p.Met1332=)
c.4761G= (p.Met1587=)
c.4950G= (p.Met1650=)
c.4743G= (p.Met1581=)
c.1446G= (p.Met482=)
c.1491G= (p.Met497=)
c.4947G= (p.Met1649=)
c.1271G=
c.1458G= (p.Met486=)
c.*4667G= (n.*4667G=)
n.37G=
c.1197G= (p.Met399=)
c.5-7079G= (n.5-7079G=)
c.357G= (p.Met119=)
c.-98-20840G= (n.-98-20840G=)
n.5020G=
n.5061G=
17g.43071030C>GCA10591760BRCA1c.4881G>C (p.Met1627Ile)
c.4884G>C (p.Met1628Ile)
c.4758G>C (p.Met1586Ile)
c.4878G>C (p.Met1626Ile)
c.4806G>C (p.Met1602Ile)
c.1572G>C (p.Met524Ile)
c.1434G>C (p.Met478Ile)
c.3996G>C (p.Met1332Ile)
c.4761G>C (p.Met1587Ile)
c.4950G>C (p.Met1650Ile)
c.4743G>C (p.Met1581Ile)
c.1446G>C (p.Met482Ile)
c.1491G>C (p.Met497Ile)
c.4947G>C (p.Met1649Ile)
c.1271G>C
c.1458G>C (p.Met486Ile)
c.*4667G>C (n.*4667G>C)
n.37G>C
c.1197G>C (p.Met399Ile)
c.5-7079G>C (n.5-7079G>C)
c.357G>C (p.Met119Ile)
c.-98-20840G>C (n.-98-20840G>C)
n.5020G>C
n.5061G>C
 dbSNP
17g.43071030C>TCA10591761BRCA1c.4881G>A (p.Met1627Ile)
c.4884G>A (p.Met1628Ile)
c.4758G>A (p.Met1586Ile)
c.4878G>A (p.Met1626Ile)
c.4806G>A (p.Met1602Ile)
c.1572G>A (p.Met524Ile)
c.1434G>A (p.Met478Ile)
c.3996G>A (p.Met1332Ile)
c.4761G>A (p.Met1587Ile)
c.4950G>A (p.Met1650Ile)
c.4743G>A (p.Met1581Ile)
c.1446G>A (p.Met482Ile)
c.1491G>A (p.Met497Ile)
c.4947G>A (p.Met1649Ile)
c.1271G>A
c.1458G>A (p.Met486Ile)
c.*4667G>A (n.*4667G>A)
n.37G>A
c.1197G>A (p.Met399Ile)
c.5-7079G>A (n.5-7079G>A)
c.357G>A (p.Met119Ile)
c.-98-20840G>A (n.-98-20840G>A)
n.5020G>A
n.5061G>A
 ClinVar dbSNP
17g.43071031delCA2697559920BRCA1c.4880del (p.Met1627ArgfsTer5)
c.4883del (p.Met1628ArgfsTer5)
c.4757del (p.Met1586ArgfsTer5)
c.4877del (p.Met1626ArgfsTer5)
c.4805del (p.Met1602ArgfsTer5)
c.1571del (p.Met524ArgfsTer5)
c.1433del (p.Met478ArgfsTer5)
c.3995del (p.Met1332ArgfsTer5)
c.4760del (p.Met1587ArgfsTer5)
c.4949del (p.Met1650ArgfsTer5)
c.4742del (p.Met1581ArgfsTer5)
c.1445del (p.Met482ArgfsTer5)
c.1490del (p.Met497ArgfsTer5)
c.4946del (p.Met1649ArgfsTer5)
c.1270del
c.1457del (p.Met486ArgfsTer5)
c.*4666del (n.*4666del)
n.36del
c.1196del (p.Met399ArgfsTer5)
c.5-7080del (n.5-7080del)
c.356del (p.Met119ArgfsTer5)
c.-98-20841del (n.-98-20841del)
n.5019del
n.5060del
 ClinVar
17g.43071031A=CA2260772855BRCA1c.4880T= (p.Met1627=)
c.4883T= (p.Met1628=)
c.4757T= (p.Met1586=)
c.4877T= (p.Met1626=)
c.4805T= (p.Met1602=)
c.1571T= (p.Met524=)
c.1433T= (p.Met478=)
c.3995T= (p.Met1332=)
c.4760T= (p.Met1587=)
c.4949T= (p.Met1650=)
c.4742T= (p.Met1581=)
c.1445T= (p.Met482=)
c.1490T= (p.Met497=)
c.4946T= (p.Met1649=)
c.1270T=
c.1457T= (p.Met486=)
c.*4666T= (n.*4666T=)
n.36T=
c.1196T= (p.Met399=)
c.5-7080T= (n.5-7080T=)
c.356T= (p.Met119=)
c.-98-20841T= (n.-98-20841T=)
n.5019T=
n.5060T=
17g.43071031A>CCA10591762BRCA1c.4880T>G (p.Met1627Arg)
c.4883T>G (p.Met1628Arg)
c.4757T>G (p.Met1586Arg)
c.4877T>G (p.Met1626Arg)
c.4805T>G (p.Met1602Arg)
c.1571T>G (p.Met524Arg)
c.1433T>G (p.Met478Arg)
c.3995T>G (p.Met1332Arg)
c.4760T>G (p.Met1587Arg)
c.4949T>G (p.Met1650Arg)
c.4742T>G (p.Met1581Arg)
c.1445T>G (p.Met482Arg)
c.1490T>G (p.Met497Arg)
c.4946T>G (p.Met1649Arg)
c.1270T>G
c.1457T>G (p.Met486Arg)
c.*4666T>G (n.*4666T>G)
n.36T>G
c.1196T>G (p.Met399Arg)
c.5-7080T>G (n.5-7080T>G)
c.356T>G (p.Met119Arg)
c.-98-20841T>G (n.-98-20841T>G)
n.5019T>G
n.5060T>G
 dbSNP
17g.43071031A>GCA003062BRCA1c.4880T>C (p.Met1627Thr)
c.4883T>C (p.Met1628Thr)
c.4757T>C (p.Met1586Thr)
c.4877T>C (p.Met1626Thr)
c.4805T>C (p.Met1602Thr)
c.1571T>C (p.Met524Thr)
c.1433T>C (p.Met478Thr)
c.3995T>C (p.Met1332Thr)
c.4760T>C (p.Met1587Thr)
c.4949T>C (p.Met1650Thr)
c.4742T>C (p.Met1581Thr)
c.1445T>C (p.Met482Thr)
c.1490T>C (p.Met497Thr)
c.4946T>C (p.Met1649Thr)
c.1270T>C
c.1457T>C (p.Met486Thr)
c.*4666T>C (n.*4666T>C)
n.36T>C
c.1196T>C (p.Met399Thr)
c.5-7080T>C (n.5-7080T>C)
c.356T>C (p.Met119Thr)
c.-98-20841T>C (n.-98-20841T>C)
n.5019T>C
n.5060T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43071031A>TCA10591763BRCA1c.4880T>A (p.Met1627Lys)
c.4883T>A (p.Met1628Lys)
c.4757T>A (p.Met1586Lys)
c.4877T>A (p.Met1626Lys)
c.4805T>A (p.Met1602Lys)
c.1571T>A (p.Met524Lys)
c.1433T>A (p.Met478Lys)
c.3995T>A (p.Met1332Lys)
c.4760T>A (p.Met1587Lys)
c.4949T>A (p.Met1650Lys)
c.4742T>A (p.Met1581Lys)
c.1445T>A (p.Met482Lys)
c.1490T>A (p.Met497Lys)
c.4946T>A (p.Met1649Lys)
c.1270T>A
c.1457T>A (p.Met486Lys)
c.*4666T>A (n.*4666T>A)
n.36T>A
c.1196T>A (p.Met399Lys)
c.5-7080T>A (n.5-7080T>A)
c.356T>A (p.Met119Lys)
c.-98-20841T>A (n.-98-20841T>A)
n.5019T>A
n.5060T>A
 ClinVar dbSNP
17g.43071032T>ACA10591764BRCA1c.4879A>T (p.Met1627Leu)
c.4882A>T (p.Met1628Leu)
c.4756A>T (p.Met1586Leu)
c.4876A>T (p.Met1626Leu)
c.4804A>T (p.Met1602Leu)
c.1570A>T (p.Met524Leu)
c.1432A>T (p.Met478Leu)
c.3994A>T (p.Met1332Leu)
c.4759A>T (p.Met1587Leu)
c.4948A>T (p.Met1650Leu)
c.4741A>T (p.Met1581Leu)
c.1444A>T (p.Met482Leu)
c.1489A>T (p.Met497Leu)
c.4945A>T (p.Met1649Leu)
c.1269A>T
c.1456A>T (p.Met486Leu)
c.*4665A>T (n.*4665A>T)
n.35A>T
c.1195A>T (p.Met399Leu)
c.5-7081A>T (n.5-7081A>T)
c.355A>T (p.Met119Leu)
c.-98-20842A>T (n.-98-20842A>T)
n.5018A>T
n.5059A>T
 dbSNP
17g.43071032T>CCA003061BRCA1c.4879A>G (p.Met1627Val)
c.4882A>G (p.Met1628Val)
c.4756A>G (p.Met1586Val)
c.4876A>G (p.Met1626Val)
c.4804A>G (p.Met1602Val)
c.1570A>G (p.Met524Val)
c.1432A>G (p.Met478Val)
c.3994A>G (p.Met1332Val)
c.4759A>G (p.Met1587Val)
c.4948A>G (p.Met1650Val)
c.4741A>G (p.Met1581Val)
c.1444A>G (p.Met482Val)
c.1489A>G (p.Met497Val)
c.4945A>G (p.Met1649Val)
c.1269A>G
c.1456A>G (p.Met486Val)
c.*4665A>G (n.*4665A>G)
n.35A>G
c.1195A>G (p.Met399Val)
c.5-7081A>G (n.5-7081A>G)
c.355A>G (p.Met119Val)
c.-98-20842A>G (n.-98-20842A>G)
n.5018A>G
n.5059A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43071032T>GCA10591765BRCA1c.4879A>C (p.Met1627Leu)
c.4882A>C (p.Met1628Leu)
c.4756A>C (p.Met1586Leu)
c.4876A>C (p.Met1626Leu)
c.4804A>C (p.Met1602Leu)
c.1570A>C (p.Met524Leu)
c.1432A>C (p.Met478Leu)
c.3994A>C (p.Met1332Leu)
c.4759A>C (p.Met1587Leu)
c.4948A>C (p.Met1650Leu)
c.4741A>C (p.Met1581Leu)
c.1444A>C (p.Met482Leu)
c.1489A>C (p.Met497Leu)
c.4945A>C (p.Met1649Leu)
c.1269A>C
c.1456A>C (p.Met486Leu)
c.*4665A>C (n.*4665A>C)
n.35A>C
c.1195A>C (p.Met399Leu)
c.5-7081A>C (n.5-7081A>C)
c.355A>C (p.Met119Leu)
c.-98-20842A>C (n.-98-20842A>C)
n.5018A>C
n.5059A>C
 dbSNP
17g.43071032T=CA2260772856BRCA1c.4879A= (p.Met1627=)
c.4882A= (p.Met1628=)
c.4756A= (p.Met1586=)
c.4876A= (p.Met1626=)
c.4804A= (p.Met1602=)
c.1570A= (p.Met524=)
c.1432A= (p.Met478=)
c.3994A= (p.Met1332=)
c.4759A= (p.Met1587=)
c.4948A= (p.Met1650=)
c.4741A= (p.Met1581=)
c.1444A= (p.Met482=)
c.1489A= (p.Met497=)
c.4945A= (p.Met1649=)
c.1269A=
c.1456A= (p.Met486=)
c.*4665A= (n.*4665A=)
n.35A=
c.1195A= (p.Met399=)
c.5-7081A= (n.5-7081A=)
c.355A= (p.Met119=)
c.-98-20842A= (n.-98-20842A=)
n.5018A=
n.5059A=
17g.43071033T>ACA500231753BRCA1c.4878A>T (p.Ala1626=)
c.4881A>T (p.Ala1627=)
c.4755A>T (p.Ala1585=)
c.4875A>T (p.Ala1625=)
c.4803A>T (p.Ala1601=)
c.1569A>T (p.Ala523=)
c.1431A>T (p.Ala477=)
c.3993A>T (p.Ala1331=)
c.4758A>T (p.Ala1586=)
c.4947A>T (p.Ala1649=)
c.4740A>T (p.Ala1580=)
c.1443A>T (p.Ala481=)
c.1488A>T (p.Ala496=)
c.4944A>T (p.Ala1648=)
c.1268A>T
c.1455A>T (p.Ala485=)
c.*4664A>T (n.*4664A>T)
n.34A>T
c.1194A>T (p.Ala398=)
c.5-7082A>T (n.5-7082A>T)
c.354A>T (p.Ala118=)
c.-98-20843A>T (n.-98-20843A>T)
n.5017A>T
n.5058A>T
 dbSNP
17g.43071033T>CCA500231751BRCA1c.4878A>G (p.Ala1626=)
c.4881A>G (p.Ala1627=)
c.4755A>G (p.Ala1585=)
c.4875A>G (p.Ala1625=)
c.4803A>G (p.Ala1601=)
c.1569A>G (p.Ala523=)
c.1431A>G (p.Ala477=)
c.3993A>G (p.Ala1331=)
c.4758A>G (p.Ala1586=)
c.4947A>G (p.Ala1649=)
c.4740A>G (p.Ala1580=)
c.1443A>G (p.Ala481=)
c.1488A>G (p.Ala496=)
c.4944A>G (p.Ala1648=)
c.1268A>G
c.1455A>G (p.Ala485=)
c.*4664A>G (n.*4664A>G)
n.34A>G
c.1194A>G (p.Ala398=)
c.5-7082A>G (n.5-7082A>G)
c.354A>G (p.Ala118=)
c.-98-20843A>G (n.-98-20843A>G)
n.5017A>G
n.5058A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43071033T>GCA500231752BRCA1c.4878A>C (p.Ala1626=)
c.4881A>C (p.Ala1627=)
c.4755A>C (p.Ala1585=)
c.4875A>C (p.Ala1625=)
c.4803A>C (p.Ala1601=)
c.1569A>C (p.Ala523=)
c.1431A>C (p.Ala477=)
c.3993A>C (p.Ala1331=)
c.4758A>C (p.Ala1586=)
c.4947A>C (p.Ala1649=)
c.4740A>C (p.Ala1580=)
c.1443A>C (p.Ala481=)
c.1488A>C (p.Ala496=)
c.4944A>C (p.Ala1648=)
c.1268A>C
c.1455A>C (p.Ala485=)
c.*4664A>C (n.*4664A>C)
n.34A>C
c.1194A>C (p.Ala398=)
c.5-7082A>C (n.5-7082A>C)
c.354A>C (p.Ala118=)
c.-98-20843A>C (n.-98-20843A>C)
n.5017A>C
n.5058A>C
17g.43071033T=CA2260772857BRCA1c.4878A= (p.Ala1626=)
c.4881A= (p.Ala1627=)
c.4755A= (p.Ala1585=)
c.4875A= (p.Ala1625=)
c.4803A= (p.Ala1601=)
c.1569A= (p.Ala523=)
c.1431A= (p.Ala477=)
c.3993A= (p.Ala1331=)
c.4758A= (p.Ala1586=)
c.4947A= (p.Ala1649=)
c.4740A= (p.Ala1580=)
c.1443A= (p.Ala481=)
c.1488A= (p.Ala496=)
c.4944A= (p.Ala1648=)
c.1268A=
c.1455A= (p.Ala485=)
c.*4664A= (n.*4664A=)
n.34A=
c.1194A= (p.Ala398=)
c.5-7082A= (n.5-7082A=)
c.354A= (p.Ala118=)
c.-98-20843A= (n.-98-20843A=)
n.5017A=
n.5058A=
17g.43071034G>ACA053410BRCA1c.4877C>T (p.Ala1626Val)
c.4880C>T (p.Ala1627Val)
c.4754C>T (p.Ala1585Val)
c.4874C>T (p.Ala1625Val)
c.4802C>T (p.Ala1601Val)
c.1568C>T (p.Ala523Val)
c.1430C>T (p.Ala477Val)
c.3992C>T (p.Ala1331Val)
c.4757C>T (p.Ala1586Val)
c.4946C>T (p.Ala1649Val)
c.4739C>T (p.Ala1580Val)
c.1442C>T (p.Ala481Val)
c.1487C>T (p.Ala496Val)
c.4943C>T (p.Ala1648Val)
c.1267C>T
c.1454C>T (p.Ala485Val)
c.*4663C>T (n.*4663C>T)
n.33C>T
c.1193C>T (p.Ala398Val)
c.5-7083C>T (n.5-7083C>T)
c.353C>T (p.Ala118Val)
c.-98-20844C>T (n.-98-20844C>T)
n.5016C>T
n.5057C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43071034G>CCA10591766BRCA1c.4877C>G (p.Ala1626Gly)
c.4880C>G (p.Ala1627Gly)
c.4754C>G (p.Ala1585Gly)
c.4874C>G (p.Ala1625Gly)
c.4802C>G (p.Ala1601Gly)
c.1568C>G (p.Ala523Gly)
c.1430C>G (p.Ala477Gly)
c.3992C>G (p.Ala1331Gly)
c.4757C>G (p.Ala1586Gly)
c.4946C>G (p.Ala1649Gly)
c.4739C>G (p.Ala1580Gly)
c.1442C>G (p.Ala481Gly)
c.1487C>G (p.Ala496Gly)
c.4943C>G (p.Ala1648Gly)
c.1267C>G
c.1454C>G (p.Ala485Gly)
c.*4663C>G (n.*4663C>G)
n.33C>G
c.1193C>G (p.Ala398Gly)
c.5-7083C>G (n.5-7083C>G)
c.353C>G (p.Ala118Gly)
c.-98-20844C>G (n.-98-20844C>G)
n.5016C>G
n.5057C>G
 dbSNP
17g.43071034G=CA2260772858BRCA1c.4877C= (p.Ala1626=)
c.4880C= (p.Ala1627=)
c.4754C= (p.Ala1585=)
c.4874C= (p.Ala1625=)
c.4802C= (p.Ala1601=)
c.1568C= (p.Ala523=)
c.1430C= (p.Ala477=)
c.3992C= (p.Ala1331=)
c.4757C= (p.Ala1586=)
c.4946C= (p.Ala1649=)
c.4739C= (p.Ala1580=)
c.1442C= (p.Ala481=)
c.1487C= (p.Ala496=)
c.4943C= (p.Ala1648=)
c.1267C=
c.1454C= (p.Ala485=)
c.*4663C= (n.*4663C=)
n.33C=
c.1193C= (p.Ala398=)
c.5-7083C= (n.5-7083C=)
c.353C= (p.Ala118=)
c.-98-20844C= (n.-98-20844C=)
n.5016C=
n.5057C=
17g.43071034G>TCA10591767BRCA1c.4877C>A (p.Ala1626Glu)
c.4880C>A (p.Ala1627Glu)
c.4754C>A (p.Ala1585Glu)
c.4874C>A (p.Ala1625Glu)
c.4802C>A (p.Ala1601Glu)
c.1568C>A (p.Ala523Glu)
c.1430C>A (p.Ala477Glu)
c.3992C>A (p.Ala1331Glu)
c.4757C>A (p.Ala1586Glu)
c.4946C>A (p.Ala1649Glu)
c.4739C>A (p.Ala1580Glu)
c.1442C>A (p.Ala481Glu)
c.1487C>A (p.Ala496Glu)
c.4943C>A (p.Ala1648Glu)
c.1267C>A
c.1454C>A (p.Ala485Glu)
c.*4663C>A (n.*4663C>A)
n.33C>A
c.1193C>A (p.Ala398Glu)
c.5-7083C>A (n.5-7083C>A)
c.353C>A (p.Ala118Glu)
c.-98-20844C>A (n.-98-20844C>A)
n.5016C>A
n.5057C>A
 dbSNP gnomAD v4
17g.43071034_43071041delCA2499224391BRCA1c.4870_4877del (p.Tyr1624AsnfsTer?)
c.4873_4880del (p.Tyr1625AsnfsTer?)
c.4747_4754del (p.Tyr1583AsnfsTer?)
c.4867_4874del (p.Tyr1623AsnfsTer?)
c.4795_4802del (p.Tyr1599AsnfsTer?)
c.1561_1568del (p.Tyr521AsnfsTer?)
c.1423_1430del (p.Tyr475AsnfsTer?)
c.3985_3992del (p.Tyr1329AsnfsTer?)
c.4750_4757del (p.Tyr1584AsnfsTer?)
c.4939_4946del (p.Tyr1647AsnfsTer?)
c.4732_4739del (p.Tyr1578AsnfsTer?)
c.1435_1442del (p.Tyr479AsnfsTer?)
c.1480_1487del (p.Tyr494AsnfsTer?)
c.4936_4943del (p.Tyr1646AsnfsTer?)
c.1260_1267del
c.1447_1454del (p.Tyr483AsnfsTer?)
c.*4656_*4663del (n.*4656_*4663del)
n.26_33del
c.1186_1193del (p.Tyr396AsnfsTer?)
c.5-7090_5-7083del (n.5-7090_5-7083del)
c.346_353del (p.Tyr116AsnfsTer?)
c.-98-20851_-98-20844del (n.-98-20851_-98-20844del)
n.5009_5016del
n.5050_5057del
17g.43071035C>ACA10591768BRCA1c.4876G>T (p.Ala1626Ser)
c.4879G>T (p.Ala1627Ser)
c.4753G>T (p.Ala1585Ser)
c.4873G>T (p.Ala1625Ser)
c.4801G>T (p.Ala1601Ser)
c.1567G>T (p.Ala523Ser)
c.1429G>T (p.Ala477Ser)
c.3991G>T (p.Ala1331Ser)
c.4756G>T (p.Ala1586Ser)
c.4945G>T (p.Ala1649Ser)
c.4738G>T (p.Ala1580Ser)
c.1441G>T (p.Ala481Ser)
c.1486G>T (p.Ala496Ser)
c.4942G>T (p.Ala1648Ser)
c.1266G>T
c.1453G>T (p.Ala485Ser)
c.*4662G>T (n.*4662G>T)
n.32G>T
c.1192G>T (p.Ala398Ser)
c.5-7084G>T (n.5-7084G>T)
c.352G>T (p.Ala118Ser)
c.-98-20845G>T (n.-98-20845G>T)
n.5015G>T
n.5056G>T
 ClinVar dbSNP
17g.43071035C=CA2260772859BRCA1c.4876G= (p.Ala1626=)
c.4879G= (p.Ala1627=)
c.4753G= (p.Ala1585=)
c.4873G= (p.Ala1625=)
c.4801G= (p.Ala1601=)
c.1567G= (p.Ala523=)
c.1429G= (p.Ala477=)
c.3991G= (p.Ala1331=)
c.4756G= (p.Ala1586=)
c.4945G= (p.Ala1649=)
c.4738G= (p.Ala1580=)
c.1441G= (p.Ala481=)
c.1486G= (p.Ala496=)
c.4942G= (p.Ala1648=)
c.1266G=
c.1453G= (p.Ala485=)
c.*4662G= (n.*4662G=)
n.32G=
c.1192G= (p.Ala398=)
c.5-7084G= (n.5-7084G=)
c.352G= (p.Ala118=)
c.-98-20845G= (n.-98-20845G=)
n.5015G=
n.5056G=
17g.43071035C>GCA10591769BRCA1c.4876G>C (p.Ala1626Pro)
c.4879G>C (p.Ala1627Pro)
c.4753G>C (p.Ala1585Pro)
c.4873G>C (p.Ala1625Pro)
c.4801G>C (p.Ala1601Pro)
c.1567G>C (p.Ala523Pro)
c.1429G>C (p.Ala477Pro)
c.3991G>C (p.Ala1331Pro)
c.4756G>C (p.Ala1586Pro)
c.4945G>C (p.Ala1649Pro)
c.4738G>C (p.Ala1580Pro)
c.1441G>C (p.Ala481Pro)
c.1486G>C (p.Ala496Pro)
c.4942G>C (p.Ala1648Pro)
c.1266G>C
c.1453G>C (p.Ala485Pro)
c.*4662G>C (n.*4662G>C)
n.32G>C
c.1192G>C (p.Ala398Pro)
c.5-7084G>C (n.5-7084G>C)
c.352G>C (p.Ala118Pro)
c.-98-20845G>C (n.-98-20845G>C)
n.5015G>C
n.5056G>C
 dbSNP
17g.43071035C>TCA053401BRCA1c.4876G>A (p.Ala1626Thr)
c.4879G>A (p.Ala1627Thr)
c.4753G>A (p.Ala1585Thr)
c.4873G>A (p.Ala1625Thr)
c.4801G>A (p.Ala1601Thr)
c.1567G>A (p.Ala523Thr)
c.1429G>A (p.Ala477Thr)
c.3991G>A (p.Ala1331Thr)
c.4756G>A (p.Ala1586Thr)
c.4945G>A (p.Ala1649Thr)
c.4738G>A (p.Ala1580Thr)
c.1441G>A (p.Ala481Thr)
c.1486G>A (p.Ala496Thr)
c.4942G>A (p.Ala1648Thr)
c.1266G>A
c.1453G>A (p.Ala485Thr)
c.*4662G>A (n.*4662G>A)
n.32G>A
c.1192G>A (p.Ala398Thr)
c.5-7084G>A (n.5-7084G>A)
c.352G>A (p.Ala118Thr)
c.-98-20845G>A (n.-98-20845G>A)
n.5015G>A
n.5056G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43071036delCA2573154030BRCA1c.4875del (p.Asn1625LysfsTer7)
c.4878del (p.Asn1626LysfsTer7)
c.4752del (p.Asn1584LysfsTer7)
c.4872del (p.Asn1624LysfsTer7)
c.4800del (p.Asn1600LysfsTer7)
c.1566del (p.Asn522LysfsTer7)
c.1428del (p.Asn476LysfsTer7)
c.3990del (p.Asn1330LysfsTer7)
c.4755del (p.Asn1585LysfsTer7)
c.4944del (p.Asn1648LysfsTer7)
c.4737del (p.Asn1579LysfsTer7)
c.1440del (p.Asn480LysfsTer7)
c.1485del (p.Asn495LysfsTer7)
c.4941del (p.Asn1647LysfsTer7)
c.1265del
c.1452del (p.Asn484LysfsTer7)
c.*4661del (n.*4661del)
n.31del
c.1191del (p.Asn397LysfsTer7)
c.5-7085del (n.5-7085del)
c.351del (p.Asn117LysfsTer7)
c.-98-20846del (n.-98-20846del)
n.5014del
n.5055del
 ClinVar dbSNP
17g.43071036A=CA2260772861BRCA1c.4875T= (p.Asn1625=)
c.4878T= (p.Asn1626=)
c.4752T= (p.Asn1584=)
c.4872T= (p.Asn1624=)
c.4800T= (p.Asn1600=)
c.1566T= (p.Asn522=)
c.1428T= (p.Asn476=)
c.3990T= (p.Asn1330=)
c.4755T= (p.Asn1585=)
c.4944T= (p.Asn1648=)
c.4737T= (p.Asn1579=)
c.1440T= (p.Asn480=)
c.1485T= (p.Asn495=)
c.4941T= (p.Asn1647=)
c.1265T=
c.1452T= (p.Asn484=)
c.*4661T= (n.*4661T=)
n.31T=
c.1191T= (p.Asn397=)
c.5-7085T= (n.5-7085T=)
c.351T= (p.Asn117=)
c.-98-20846T= (n.-98-20846T=)
n.5014T=
n.5055T=
17g.43071036A>CCA10591770BRCA1c.4875T>G (p.Asn1625Lys)
c.4878T>G (p.Asn1626Lys)
c.4752T>G (p.Asn1584Lys)
c.4872T>G (p.Asn1624Lys)
c.4800T>G (p.Asn1600Lys)
c.1566T>G (p.Asn522Lys)
c.1428T>G (p.Asn476Lys)
c.3990T>G (p.Asn1330Lys)
c.4755T>G (p.Asn1585Lys)
c.4944T>G (p.Asn1648Lys)
c.4737T>G (p.Asn1579Lys)
c.1440T>G (p.Asn480Lys)
c.1485T>G (p.Asn495Lys)
c.4941T>G (p.Asn1647Lys)
c.1265T>G
c.1452T>G (p.Asn484Lys)
c.*4661T>G (n.*4661T>G)
n.31T>G
c.1191T>G (p.Asn397Lys)
c.5-7085T>G (n.5-7085T>G)
c.351T>G (p.Asn117Lys)
c.-98-20846T>G (n.-98-20846T>G)
n.5014T>G
n.5055T>G
17g.43071036A>GCA500231756BRCA1c.4875T>C (p.Asn1625=)
c.4878T>C (p.Asn1626=)
c.4752T>C (p.Asn1584=)
c.4872T>C (p.Asn1624=)
c.4800T>C (p.Asn1600=)
c.1566T>C (p.Asn522=)
c.1428T>C (p.Asn476=)
c.3990T>C (p.Asn1330=)
c.4755T>C (p.Asn1585=)
c.4944T>C (p.Asn1648=)
c.4737T>C (p.Asn1579=)
c.1440T>C (p.Asn480=)
c.1485T>C (p.Asn495=)
c.4941T>C (p.Asn1647=)
c.1265T>C
c.1452T>C (p.Asn484=)
c.*4661T>C (n.*4661T>C)
n.31T>C
c.1191T>C (p.Asn397=)
c.5-7085T>C (n.5-7085T>C)
c.351T>C (p.Asn117=)
c.-98-20846T>C (n.-98-20846T>C)
n.5014T>C
n.5055T>C
 dbSNP gnomAD v2 gnomAD v4
17g.43071036A>TCA10591771BRCA1c.4875T>A (p.Asn1625Lys)
c.4878T>A (p.Asn1626Lys)
c.4752T>A (p.Asn1584Lys)
c.4872T>A (p.Asn1624Lys)
c.4800T>A (p.Asn1600Lys)
c.1566T>A (p.Asn522Lys)
c.1428T>A (p.Asn476Lys)
c.3990T>A (p.Asn1330Lys)
c.4755T>A (p.Asn1585Lys)
c.4944T>A (p.Asn1648Lys)
c.4737T>A (p.Asn1579Lys)
c.1440T>A (p.Asn480Lys)
c.1485T>A (p.Asn495Lys)
c.4941T>A (p.Asn1647Lys)
c.1265T>A
c.1452T>A (p.Asn484Lys)
c.*4661T>A (n.*4661T>A)
n.31T>A
c.1191T>A (p.Asn397Lys)
c.5-7085T>A (n.5-7085T>A)
c.351T>A (p.Asn117Lys)
c.-98-20846T>A (n.-98-20846T>A)
n.5014T>A
n.5055T>A
17g.43071036dupCA10589640BRCA1c.4875dup (p.Ala1626CysfsTer?)
c.4878dup (p.Ala1627CysfsTer?)
c.4752dup (p.Ala1585CysfsTer?)
c.4872dup (p.Ala1625CysfsTer?)
c.4800dup (p.Ala1601CysfsTer?)
c.1566dup (p.Ala523CysfsTer?)
c.1428dup (p.Ala477CysfsTer?)
c.3990dup (p.Ala1331CysfsTer?)
c.4755dup (p.Ala1586CysfsTer?)
c.4944dup (p.Ala1649CysfsTer?)
c.4737dup (p.Ala1580CysfsTer?)
c.1440dup (p.Ala481CysfsTer?)
c.1485dup (p.Ala496CysfsTer?)
c.4941dup (p.Ala1648CysfsTer?)
c.1265dup
c.1452dup (p.Ala485CysfsTer?)
c.*4661dup (n.*4661dup)
n.31dup
c.1191dup (p.Ala398CysfsTer?)
c.5-7085dup (n.5-7085dup)
c.351dup (p.Ala118CysfsTer?)
c.-98-20846dup (n.-98-20846dup)
n.5014dup
n.5055dup
 ClinVar dbSNP
17g.43071036_43071037delinsATCA2260772860BRCA1c.4874_4875delinsAT (p.Asn1625=)
c.4877_4878delinsAT (p.Asn1626=)
c.4751_4752delinsAT (p.Asn1584=)
c.4871_4872delinsAT (p.Asn1624=)
c.4799_4800delinsAT (p.Asn1600=)
c.1565_1566delinsAT (p.Asn522=)
c.1427_1428delinsAT (p.Asn476=)
c.3989_3990delinsAT (p.Asn1330=)
c.4754_4755delinsAT (p.Asn1585=)
c.4943_4944delinsAT (p.Asn1648=)
c.4736_4737delinsAT (p.Asn1579=)
c.1439_1440delinsAT (p.Asn480=)
c.1484_1485delinsAT (p.Asn495=)
c.4940_4941delinsAT (p.Asn1647=)
c.1264_1265delinsAT
c.1451_1452delinsAT (p.Asn484=)
c.*4660_*4661delinsAT (n.*4660_*4661delinsAT)
n.30_31delinsAT
c.1190_1191delinsAT (p.Asn397=)
c.5-7086_5-7085delinsAT (n.5-7086_5-7085delinsAT)
c.350_351delinsAT (p.Asn117=)
c.-98-20847_-98-20846delinsAT (n.-98-20847_-98-20846delinsAT)
n.5013_5014delinsAT
n.5054_5055delinsAT
17g.43071037T>ACA10591772BRCA1c.4874A>T (p.Asn1625Ile)
c.4877A>T (p.Asn1626Ile)
c.4751A>T (p.Asn1584Ile)
c.4871A>T (p.Asn1624Ile)
c.4799A>T (p.Asn1600Ile)
c.1565A>T (p.Asn522Ile)
c.1427A>T (p.Asn476Ile)
c.3989A>T (p.Asn1330Ile)
c.4754A>T (p.Asn1585Ile)
c.4943A>T (p.Asn1648Ile)
c.4736A>T (p.Asn1579Ile)
c.1439A>T (p.Asn480Ile)
c.1484A>T (p.Asn495Ile)
c.4940A>T (p.Asn1647Ile)
c.1264A>T
c.1451A>T (p.Asn484Ile)
c.*4660A>T (n.*4660A>T)
n.30A>T
c.1190A>T (p.Asn397Ile)
c.5-7086A>T (n.5-7086A>T)
c.350A>T (p.Asn117Ile)
c.-98-20847A>T (n.-98-20847A>T)
n.5013A>T
n.5054A>T
 dbSNP
17g.43071037T>CCA10591773BRCA1c.4874A>G (p.Asn1625Ser)
c.4877A>G (p.Asn1626Ser)
c.4751A>G (p.Asn1584Ser)
c.4871A>G (p.Asn1624Ser)
c.4799A>G (p.Asn1600Ser)
c.1565A>G (p.Asn522Ser)
c.1427A>G (p.Asn476Ser)
c.3989A>G (p.Asn1330Ser)
c.4754A>G (p.Asn1585Ser)
c.4943A>G (p.Asn1648Ser)
c.4736A>G (p.Asn1579Ser)
c.1439A>G (p.Asn480Ser)
c.1484A>G (p.Asn495Ser)
c.4940A>G (p.Asn1647Ser)
c.1264A>G
c.1451A>G (p.Asn484Ser)
c.*4660A>G (n.*4660A>G)
n.30A>G
c.1190A>G (p.Asn397Ser)
c.5-7086A>G (n.5-7086A>G)
c.350A>G (p.Asn117Ser)
c.-98-20847A>G (n.-98-20847A>G)
n.5013A>G
n.5054A>G
 gnomAD v4
17g.43071037T>GCA10591774BRCA1c.4874A>C (p.Asn1625Thr)
c.4877A>C (p.Asn1626Thr)
c.4751A>C (p.Asn1584Thr)
c.4871A>C (p.Asn1624Thr)
c.4799A>C (p.Asn1600Thr)
c.1565A>C (p.Asn522Thr)
c.1427A>C (p.Asn476Thr)
c.3989A>C (p.Asn1330Thr)
c.4754A>C (p.Asn1585Thr)
c.4943A>C (p.Asn1648Thr)
c.4736A>C (p.Asn1579Thr)
c.1439A>C (p.Asn480Thr)
c.1484A>C (p.Asn495Thr)
c.4940A>C (p.Asn1647Thr)
c.1264A>C
c.1451A>C (p.Asn484Thr)
c.*4660A>C (n.*4660A>C)
n.30A>C
c.1190A>C (p.Asn397Thr)
c.5-7086A>C (n.5-7086A>C)
c.350A>C (p.Asn117Thr)
c.-98-20847A>C (n.-98-20847A>C)
n.5013A>C
n.5054A>C
17g.43071038delCA10589641BRCA1c.4874del (p.Asn1625MetfsTer7)
c.4877del (p.Asn1626MetfsTer7)
c.4751del (p.Asn1584MetfsTer7)
c.4871del (p.Asn1624MetfsTer7)
c.4799del (p.Asn1600MetfsTer7)
c.1565del (p.Asn522MetfsTer7)
c.1427del (p.Asn476MetfsTer7)
c.3989del (p.Asn1330MetfsTer7)
c.4754del (p.Asn1585MetfsTer7)
c.4943del (p.Asn1648MetfsTer7)
c.4736del (p.Asn1579MetfsTer7)
c.1439del (p.Asn480MetfsTer7)
c.1484del (p.Asn495MetfsTer7)
c.4940del (p.Asn1647MetfsTer7)
c.1264del
c.1451del (p.Asn484MetfsTer7)
c.*4660del (n.*4660del)
n.30del
c.1190del (p.Asn397MetfsTer7)
c.5-7086del (n.5-7086del)
c.350del (p.Asn117MetfsTer7)
c.-98-20847del (n.-98-20847del)
n.5013del
n.5054del
 ClinVar dbSNP
17g.43071038T>ACA10591775BRCA1c.4873A>T (p.Asn1625Tyr)
c.4876A>T (p.Asn1626Tyr)
c.4750A>T (p.Asn1584Tyr)
c.4870A>T (p.Asn1624Tyr)
c.4798A>T (p.Asn1600Tyr)
c.1564A>T (p.Asn522Tyr)
c.1426A>T (p.Asn476Tyr)
c.3988A>T (p.Asn1330Tyr)
c.4753A>T (p.Asn1585Tyr)
c.4942A>T (p.Asn1648Tyr)
c.4735A>T (p.Asn1579Tyr)
c.1438A>T (p.Asn480Tyr)
c.1483A>T (p.Asn495Tyr)
c.4939A>T (p.Asn1647Tyr)
c.1263A>T
c.1450A>T (p.Asn484Tyr)
c.*4659A>T (n.*4659A>T)
n.29A>T
c.1189A>T (p.Asn397Tyr)
c.5-7087A>T (n.5-7087A>T)
c.349A>T (p.Asn117Tyr)
c.-98-20848A>T (n.-98-20848A>T)
n.5012A>T
n.5053A>T
 dbSNP
17g.43071038T>CCA10591776BRCA1c.4873A>G (p.Asn1625Asp)
c.4876A>G (p.Asn1626Asp)
c.4750A>G (p.Asn1584Asp)
c.4870A>G (p.Asn1624Asp)
c.4798A>G (p.Asn1600Asp)
c.1564A>G (p.Asn522Asp)
c.1426A>G (p.Asn476Asp)
c.3988A>G (p.Asn1330Asp)
c.4753A>G (p.Asn1585Asp)
c.4942A>G (p.Asn1648Asp)
c.4735A>G (p.Asn1579Asp)
c.1438A>G (p.Asn480Asp)
c.1483A>G (p.Asn495Asp)
c.4939A>G (p.Asn1647Asp)
c.1263A>G
c.1450A>G (p.Asn484Asp)
c.*4659A>G (n.*4659A>G)
n.29A>G
c.1189A>G (p.Asn397Asp)
c.5-7087A>G (n.5-7087A>G)
c.349A>G (p.Asn117Asp)
c.-98-20848A>G (n.-98-20848A>G)
n.5012A>G
n.5053A>G
 ClinVar
17g.43071038T>GCA10591777BRCA1c.4873A>C (p.Asn1625His)
c.4876A>C (p.Asn1626His)
c.4750A>C (p.Asn1584His)
c.4870A>C (p.Asn1624His)
c.4798A>C (p.Asn1600His)
c.1564A>C (p.Asn522His)
c.1426A>C (p.Asn476His)
c.3988A>C (p.Asn1330His)
c.4753A>C (p.Asn1585His)
c.4942A>C (p.Asn1648His)
c.4735A>C (p.Asn1579His)
c.1438A>C (p.Asn480His)
c.1483A>C (p.Asn495His)
c.4939A>C (p.Asn1647His)
c.1263A>C
c.1450A>C (p.Asn484His)
c.*4659A>C (n.*4659A>C)
n.29A>C
c.1189A>C (p.Asn397His)
c.5-7087A>C (n.5-7087A>C)
c.349A>C (p.Asn117His)
c.-98-20848A>C (n.-98-20848A>C)
n.5012A>C
n.5053A>C
17g.43071038_43071041dupCA2695225906BRCA1c.4870_4873dup (p.Asn1625IlefsTer2)
c.4873_4876dup (p.Asn1626IlefsTer2)
c.4747_4750dup (p.Asn1584IlefsTer2)
c.4867_4870dup (p.Asn1624IlefsTer2)
c.4795_4798dup (p.Asn1600IlefsTer2)
c.1561_1564dup (p.Asn522IlefsTer2)
c.1423_1426dup (p.Asn476IlefsTer2)
c.3985_3988dup (p.Asn1330IlefsTer2)
c.4750_4753dup (p.Asn1585IlefsTer2)
c.4939_4942dup (p.Asn1648IlefsTer2)
c.4732_4735dup (p.Asn1579IlefsTer2)
c.1435_1438dup (p.Asn480IlefsTer2)
c.1480_1483dup (p.Asn495IlefsTer2)
c.4936_4939dup (p.Asn1647IlefsTer2)
c.1260_1263dup
c.1447_1450dup (p.Asn484IlefsTer2)
c.*4656_*4659dup (n.*4656_*4659dup)
n.26_29dup
c.1186_1189dup (p.Asn397IlefsTer2)
c.5-7090_5-7087dup (n.5-7090_5-7087dup)
c.346_349dup (p.Asn117IlefsTer2)
c.-98-20851_-98-20848dup (n.-98-20851_-98-20848dup)
n.5009_5012dup
n.5050_5053dup
17g.43071039A=CA2260772862BRCA1c.4872T= (p.Tyr1624=)
c.4875T= (p.Tyr1625=)
c.4749T= (p.Tyr1583=)
c.4869T= (p.Tyr1623=)
c.4797T= (p.Tyr1599=)
c.1563T= (p.Tyr521=)
c.1425T= (p.Tyr475=)
c.3987T= (p.Tyr1329=)
c.4752T= (p.Tyr1584=)
c.4941T= (p.Tyr1647=)
c.4734T= (p.Tyr1578=)
c.1437T= (p.Tyr479=)
c.1482T= (p.Tyr494=)
c.4938T= (p.Tyr1646=)
c.1262T=
c.1449T= (p.Tyr483=)
c.*4658T= (n.*4658T=)
n.28T=
c.1188T= (p.Tyr396=)
c.5-7088T= (n.5-7088T=)
c.348T= (p.Tyr116=)
c.-98-20849T= (n.-98-20849T=)
n.5011T=
n.5052T=
17g.43071039A>CCA10591778BRCA1c.4872T>G (p.Tyr1624Ter)
c.4875T>G (p.Tyr1625Ter)
c.4749T>G (p.Tyr1583Ter)
c.4869T>G (p.Tyr1623Ter)
c.4797T>G (p.Tyr1599Ter)
c.1563T>G (p.Tyr521Ter)
c.1425T>G (p.Tyr475Ter)
c.3987T>G (p.Tyr1329Ter)
c.4752T>G (p.Tyr1584Ter)
c.4941T>G (p.Tyr1647Ter)
c.4734T>G (p.Tyr1578Ter)
c.1437T>G (p.Tyr479Ter)
c.1482T>G (p.Tyr494Ter)
c.4938T>G (p.Tyr1646Ter)
c.1262T>G
c.1449T>G (p.Tyr483Ter)
c.*4658T>G (n.*4658T>G)
n.28T>G
c.1188T>G (p.Tyr396Ter)
c.5-7088T>G (n.5-7088T>G)
c.348T>G (p.Tyr116Ter)
c.-98-20849T>G (n.-98-20849T>G)
n.5011T>G
n.5052T>G
 ClinVar dbSNP
17g.43071039A>GCA500231761BRCA1c.4872T>C (p.Tyr1624=)
c.4875T>C (p.Tyr1625=)
c.4749T>C (p.Tyr1583=)
c.4869T>C (p.Tyr1623=)
c.4797T>C (p.Tyr1599=)
c.1563T>C (p.Tyr521=)
c.1425T>C (p.Tyr475=)
c.3987T>C (p.Tyr1329=)
c.4752T>C (p.Tyr1584=)
c.4941T>C (p.Tyr1647=)
c.4734T>C (p.Tyr1578=)
c.1437T>C (p.Tyr479=)
c.1482T>C (p.Tyr494=)
c.4938T>C (p.Tyr1646=)
c.1262T>C
c.1449T>C (p.Tyr483=)
c.*4658T>C (n.*4658T>C)
n.28T>C
c.1188T>C (p.Tyr396=)
c.5-7088T>C (n.5-7088T>C)
c.348T>C (p.Tyr116=)
c.-98-20849T>C (n.-98-20849T>C)
n.5011T>C
n.5052T>C
17g.43071039A>TCA10589642BRCA1c.4872T>A (p.Tyr1624Ter)
c.4875T>A (p.Tyr1625Ter)
c.4749T>A (p.Tyr1583Ter)
c.4869T>A (p.Tyr1623Ter)
c.4797T>A (p.Tyr1599Ter)
c.1563T>A (p.Tyr521Ter)
c.1425T>A (p.Tyr475Ter)
c.3987T>A (p.Tyr1329Ter)
c.4752T>A (p.Tyr1584Ter)
c.4941T>A (p.Tyr1647Ter)
c.4734T>A (p.Tyr1578Ter)
c.1437T>A (p.Tyr479Ter)
c.1482T>A (p.Tyr494Ter)
c.4938T>A (p.Tyr1646Ter)
c.1262T>A
c.1449T>A (p.Tyr483Ter)
c.*4658T>A (n.*4658T>A)
n.28T>A
c.1188T>A (p.Tyr396Ter)
c.5-7088T>A (n.5-7088T>A)
c.348T>A (p.Tyr116Ter)
c.-98-20849T>A (n.-98-20849T>A)
n.5011T>A
n.5052T>A
 ClinVar dbSNP
17g.43071040T>ACA10591779BRCA1c.4871A>T (p.Tyr1624Phe)
c.4874A>T (p.Tyr1625Phe)
c.4748A>T (p.Tyr1583Phe)
c.4868A>T (p.Tyr1623Phe)
c.4796A>T (p.Tyr1599Phe)
c.1562A>T (p.Tyr521Phe)
c.1424A>T (p.Tyr475Phe)
c.3986A>T (p.Tyr1329Phe)
c.4751A>T (p.Tyr1584Phe)
c.4940A>T (p.Tyr1647Phe)
c.4733A>T (p.Tyr1578Phe)
c.1436A>T (p.Tyr479Phe)
c.1481A>T (p.Tyr494Phe)
c.4937A>T (p.Tyr1646Phe)
c.1261A>T
c.1448A>T (p.Tyr483Phe)
c.*4657A>T (n.*4657A>T)
n.27A>T
c.1187A>T (p.Tyr396Phe)
c.5-7089A>T (n.5-7089A>T)
c.347A>T (p.Tyr116Phe)
c.-98-20850A>T (n.-98-20850A>T)
n.5010A>T
n.5051A>T
 ClinVar dbSNP
17g.43071040T>CCA003060BRCA1c.4871A>G (p.Tyr1624Cys)
c.4874A>G (p.Tyr1625Cys)
c.4748A>G (p.Tyr1583Cys)
c.4868A>G (p.Tyr1623Cys)
c.4796A>G (p.Tyr1599Cys)
c.1562A>G (p.Tyr521Cys)
c.1424A>G (p.Tyr475Cys)
c.3986A>G (p.Tyr1329Cys)
c.4751A>G (p.Tyr1584Cys)
c.4940A>G (p.Tyr1647Cys)
c.4733A>G (p.Tyr1578Cys)
c.1436A>G (p.Tyr479Cys)
c.1481A>G (p.Tyr494Cys)
c.4937A>G (p.Tyr1646Cys)
c.1261A>G
c.1448A>G (p.Tyr483Cys)
c.*4657A>G (n.*4657A>G)
n.27A>G
c.1187A>G (p.Tyr396Cys)
c.5-7089A>G (n.5-7089A>G)
c.347A>G (p.Tyr116Cys)
c.-98-20850A>G (n.-98-20850A>G)
n.5010A>G
n.5051A>G
 ClinVar dbSNP
17g.43071040T>GCA10591780BRCA1c.4871A>C (p.Tyr1624Ser)
c.4874A>C (p.Tyr1625Ser)
c.4748A>C (p.Tyr1583Ser)
c.4868A>C (p.Tyr1623Ser)
c.4796A>C (p.Tyr1599Ser)
c.1562A>C (p.Tyr521Ser)
c.1424A>C (p.Tyr475Ser)
c.3986A>C (p.Tyr1329Ser)
c.4751A>C (p.Tyr1584Ser)
c.4940A>C (p.Tyr1647Ser)
c.4733A>C (p.Tyr1578Ser)
c.1436A>C (p.Tyr479Ser)
c.1481A>C (p.Tyr494Ser)
c.4937A>C (p.Tyr1646Ser)
c.1261A>C
c.1448A>C (p.Tyr483Ser)
c.*4657A>C (n.*4657A>C)
n.27A>C
c.1187A>C (p.Tyr396Ser)
c.5-7089A>C (n.5-7089A>C)
c.347A>C (p.Tyr116Ser)
c.-98-20850A>C (n.-98-20850A>C)
n.5010A>C
n.5051A>C
 dbSNP
17g.43071040T=CA2260772863BRCA1c.4871A= (p.Tyr1624=)
c.4874A= (p.Tyr1625=)
c.4748A= (p.Tyr1583=)
c.4868A= (p.Tyr1623=)
c.4796A= (p.Tyr1599=)
c.1562A= (p.Tyr521=)
c.1424A= (p.Tyr475=)
c.3986A= (p.Tyr1329=)
c.4751A= (p.Tyr1584=)
c.4940A= (p.Tyr1647=)
c.4733A= (p.Tyr1578=)
c.1436A= (p.Tyr479=)
c.1481A= (p.Tyr494=)
c.4937A= (p.Tyr1646=)
c.1261A=
c.1448A= (p.Tyr483=)
c.*4657A= (n.*4657A=)
n.27A=
c.1187A= (p.Tyr396=)
c.5-7089A= (n.5-7089A=)
c.347A= (p.Tyr116=)
c.-98-20850A= (n.-98-20850A=)
n.5010A=
n.5051A=
17g.43071041A=CA2260772864BRCA1c.4870T= (p.Tyr1624=)
c.4873T= (p.Tyr1625=)
c.4747T= (p.Tyr1583=)
c.4867T= (p.Tyr1623=)
c.4795T= (p.Tyr1599=)
c.1561T= (p.Tyr521=)
c.1423T= (p.Tyr475=)
c.3985T= (p.Tyr1329=)
c.4750T= (p.Tyr1584=)
c.4939T= (p.Tyr1647=)
c.4732T= (p.Tyr1578=)
c.1435T= (p.Tyr479=)
c.1480T= (p.Tyr494=)
c.4936T= (p.Tyr1646=)
c.1260T=
c.1447T= (p.Tyr483=)
c.*4656T= (n.*4656T=)
n.26T=
c.1186T= (p.Tyr396=)
c.5-7090T= (n.5-7090T=)
c.346T= (p.Tyr116=)
c.-98-20851T= (n.-98-20851T=)
n.5009T=
n.5050T=
17g.43071041A>CCA10591781BRCA1c.4870T>G (p.Tyr1624Asp)
c.4873T>G (p.Tyr1625Asp)
c.4747T>G (p.Tyr1583Asp)
c.4867T>G (p.Tyr1623Asp)
c.4795T>G (p.Tyr1599Asp)
c.1561T>G (p.Tyr521Asp)
c.1423T>G (p.Tyr475Asp)
c.3985T>G (p.Tyr1329Asp)
c.4750T>G (p.Tyr1584Asp)
c.4939T>G (p.Tyr1647Asp)
c.4732T>G (p.Tyr1578Asp)
c.1435T>G (p.Tyr479Asp)
c.1480T>G (p.Tyr494Asp)
c.4936T>G (p.Tyr1646Asp)
c.1260T>G
c.1447T>G (p.Tyr483Asp)
c.*4656T>G (n.*4656T>G)
n.26T>G
c.1186T>G (p.Tyr396Asp)
c.5-7090T>G (n.5-7090T>G)
c.346T>G (p.Tyr116Asp)
c.-98-20851T>G (n.-98-20851T>G)
n.5009T>G
n.5050T>G
17g.43071041A>GCA10591782BRCA1c.4870T>C (p.Tyr1624His)
c.4873T>C (p.Tyr1625His)
c.4747T>C (p.Tyr1583His)
c.4867T>C (p.Tyr1623His)
c.4795T>C (p.Tyr1599His)
c.1561T>C (p.Tyr521His)
c.1423T>C (p.Tyr475His)
c.3985T>C (p.Tyr1329His)
c.4750T>C (p.Tyr1584His)
c.4939T>C (p.Tyr1647His)
c.4732T>C (p.Tyr1578His)
c.1435T>C (p.Tyr479His)
c.1480T>C (p.Tyr494His)
c.4936T>C (p.Tyr1646His)
c.1260T>C
c.1447T>C (p.Tyr483His)
c.*4656T>C (n.*4656T>C)
n.26T>C
c.1186T>C (p.Tyr396His)
c.5-7090T>C (n.5-7090T>C)
c.346T>C (p.Tyr116His)
c.-98-20851T>C (n.-98-20851T>C)
n.5009T>C
n.5050T>C
 ClinVar
17g.43071041A>TCA10591783BRCA1c.4870T>A (p.Tyr1624Asn)
c.4873T>A (p.Tyr1625Asn)
c.4747T>A (p.Tyr1583Asn)
c.4867T>A (p.Tyr1623Asn)
c.4795T>A (p.Tyr1599Asn)
c.1561T>A (p.Tyr521Asn)
c.1423T>A (p.Tyr475Asn)
c.3985T>A (p.Tyr1329Asn)
c.4750T>A (p.Tyr1584Asn)
c.4939T>A (p.Tyr1647Asn)
c.4732T>A (p.Tyr1578Asn)
c.1435T>A (p.Tyr479Asn)
c.1480T>A (p.Tyr494Asn)
c.4936T>A (p.Tyr1646Asn)
c.1260T>A
c.1447T>A (p.Tyr483Asn)
c.*4656T>A (n.*4656T>A)
n.26T>A
c.1186T>A (p.Tyr396Asn)
c.5-7090T>A (n.5-7090T>A)
c.346T>A (p.Tyr116Asn)
c.-98-20851T>A (n.-98-20851T>A)
n.5009T>A
n.5050T>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43071042C>ACA290829463BRCA1c.4869G>T (p.Gly1623=)
c.4872G>T (p.Gly1624=)
c.4746G>T (p.Gly1582=)
c.4866G>T (p.Gly1622=)
c.4794G>T (p.Gly1598=)
c.1560G>T (p.Gly520=)
c.1422G>T (p.Gly474=)
c.3984G>T (p.Gly1328=)
c.4749G>T (p.Gly1583=)
c.4938G>T (p.Gly1646=)
c.4731G>T (p.Gly1577=)
c.1434G>T (p.Gly478=)
c.1479G>T (p.Gly493=)
c.4935G>T (p.Gly1645=)
c.1259G>T
c.1446G>T (p.Gly482=)
c.*4655G>T (n.*4655G>T)
n.25G>T
c.1185G>T (p.Gly395=)
c.5-7091G>T (n.5-7091G>T)
c.345G>T (p.Gly115=)
c.-98-20852G>T (n.-98-20852G>T)
n.5008G>T
n.5049G>T
 ClinVar dbSNP gnomAD v4
17g.43071042C=CA2260772865BRCA1c.4869G= (p.Gly1623=)
c.4872G= (p.Gly1624=)
c.4746G= (p.Gly1582=)
c.4866G= (p.Gly1622=)
c.4794G= (p.Gly1598=)
c.1560G= (p.Gly520=)
c.1422G= (p.Gly474=)
c.3984G= (p.Gly1328=)
c.4749G= (p.Gly1583=)
c.4938G= (p.Gly1646=)
c.4731G= (p.Gly1577=)
c.1434G= (p.Gly478=)
c.1479G= (p.Gly493=)
c.4935G= (p.Gly1645=)
c.1259G=
c.1446G= (p.Gly482=)
c.*4655G= (n.*4655G=)
n.25G=
c.1185G= (p.Gly395=)
c.5-7091G= (n.5-7091G=)
c.345G= (p.Gly115=)
c.-98-20852G= (n.-98-20852G=)
n.5008G=
n.5049G=
17g.43071042C>GCA500231765BRCA1c.4869G>C (p.Gly1623=)
c.4872G>C (p.Gly1624=)
c.4746G>C (p.Gly1582=)
c.4866G>C (p.Gly1622=)
c.4794G>C (p.Gly1598=)
c.1560G>C (p.Gly520=)
c.1422G>C (p.Gly474=)
c.3984G>C (p.Gly1328=)
c.4749G>C (p.Gly1583=)
c.4938G>C (p.Gly1646=)
c.4731G>C (p.Gly1577=)
c.1434G>C (p.Gly478=)
c.1479G>C (p.Gly493=)
c.4935G>C (p.Gly1645=)
c.1259G>C
c.1446G>C (p.Gly482=)
c.*4655G>C (n.*4655G>C)
n.25G>C
c.1185G>C (p.Gly395=)
c.5-7091G>C (n.5-7091G>C)
c.345G>C (p.Gly115=)
c.-98-20852G>C (n.-98-20852G>C)
n.5008G>C
n.5049G>C
 dbSNP gnomAD v4
17g.43071042C>TCA500231766BRCA1c.4869G>A (p.Gly1623=)
c.4872G>A (p.Gly1624=)
c.4746G>A (p.Gly1582=)
c.4866G>A (p.Gly1622=)
c.4794G>A (p.Gly1598=)
c.1560G>A (p.Gly520=)
c.1422G>A (p.Gly474=)
c.3984G>A (p.Gly1328=)
c.4749G>A (p.Gly1583=)
c.4938G>A (p.Gly1646=)
c.4731G>A (p.Gly1577=)
c.1434G>A (p.Gly478=)
c.1479G>A (p.Gly493=)
c.4935G>A (p.Gly1645=)
c.1259G>A
c.1446G>A (p.Gly482=)
c.*4655G>A (n.*4655G>A)
n.25G>A
c.1185G>A (p.Gly395=)
c.5-7091G>A (n.5-7091G>A)
c.345G>A (p.Gly115=)
c.-98-20852G>A (n.-98-20852G>A)
n.5008G>A
n.5049G>A
 ClinVar dbSNP gnomAD v4
17g.43071044delCA2573054439BRCA1c.4869del (p.Tyr1624IlefsTer8)
c.4872del (p.Tyr1625IlefsTer8)
c.4746del (p.Tyr1583IlefsTer8)
c.4866del (p.Tyr1623IlefsTer8)
c.4794del (p.Tyr1599IlefsTer8)
c.1560del (p.Tyr521IlefsTer8)
c.1422del (p.Tyr475IlefsTer8)
c.3984del (p.Tyr1329IlefsTer8)
c.4749del (p.Tyr1584IlefsTer8)
c.4938del (p.Tyr1647IlefsTer8)
c.4731del (p.Tyr1578IlefsTer8)
c.1434del (p.Tyr479IlefsTer8)
c.1479del (p.Tyr494IlefsTer8)
c.4935del (p.Tyr1646IlefsTer8)
c.1259del
c.1446del (p.Tyr483IlefsTer8)
c.*4655del (n.*4655del)
n.25del
c.1185del (p.Tyr396IlefsTer8)
c.5-7091del (n.5-7091del)
c.345del (p.Tyr116IlefsTer8)
c.-98-20852del (n.-98-20852del)
n.5008del
n.5049del
 ClinVar dbSNP
17g.43071042_43071052delinsCCCAGCAGTATCA2260772866BRCA1c.4859_4869delinsATACTGCTGGG (p.Asp1620=)
c.4862_4872delinsATACTGCTGGG (p.Asp1621=)
c.4736_4746delinsATACTGCTGGG (p.Asp1579=)
c.4856_4866delinsATACTGCTGGG (p.Asp1619=)
c.4784_4794delinsATACTGCTGGG (p.Asp1595=)
c.1550_1560delinsATACTGCTGGG (p.Asp517=)
c.1412_1422delinsATACTGCTGGG (p.Asp471=)
c.3974_3984delinsATACTGCTGGG (p.Asp1325=)
c.4739_4749delinsATACTGCTGGG (p.Asp1580=)
c.4928_4938delinsATACTGCTGGG (p.Asp1643=)
c.4721_4731delinsATACTGCTGGG (p.Asp1574=)
c.1424_1434delinsATACTGCTGGG (p.Asp475=)
c.1469_1479delinsATACTGCTGGG (p.Asp490=)
c.4925_4935delinsATACTGCTGGG (p.Asp1642=)
c.1249_1259delinsATACTGCTGGG
c.1436_1446delinsATACTGCTGGG (p.Asp479=)
c.*4645_*4655delinsATACTGCTGGG (n.*4645_*4655delinsATACTGCTGGG)
n.15_25delinsATACTGCTGGG
c.1175_1185delinsATACTGCTGGG (p.Asp392=)
c.5-7101_5-7091delinsATACTGCTGGG (n.5-7101_5-7091delinsATACTGCTGGG)
c.335_345delinsATACTGCTGGG (p.Asp112=)
c.-98-20862_-98-20852delinsATACTGCTGGG (n.-98-20862_-98-20852delinsATACTGCTGGG)
n.4998_5008delinsATACTGCTGGG
n.5039_5049delinsATACTGCTGGG
17g.43071043C>ACA10591784BRCA1c.4868G>T (p.Gly1623Val)
c.4871G>T (p.Gly1624Val)
c.4745G>T (p.Gly1582Val)
c.4865G>T (p.Gly1622Val)
c.4793G>T (p.Gly1598Val)
c.1559G>T (p.Gly520Val)
c.1421G>T (p.Gly474Val)
c.3983G>T (p.Gly1328Val)
c.4748G>T (p.Gly1583Val)
c.4937G>T (p.Gly1646Val)
c.4730G>T (p.Gly1577Val)
c.1433G>T (p.Gly478Val)
c.1478G>T (p.Gly493Val)
c.4934G>T (p.Gly1645Val)
c.1258G>T
c.1445G>T (p.Gly482Val)
c.*4654G>T (n.*4654G>T)
n.24G>T
c.1184G>T (p.Gly395Val)
c.5-7092G>T (n.5-7092G>T)
c.344G>T (p.Gly115Val)
c.-98-20853G>T (n.-98-20853G>T)
n.5007G>T
n.5048G>T
 dbSNP
17g.43071043C=CA2260772867BRCA1c.4868G= (p.Gly1623=)
c.4871G= (p.Gly1624=)
c.4745G= (p.Gly1582=)
c.4865G= (p.Gly1622=)
c.4793G= (p.Gly1598=)
c.1559G= (p.Gly520=)
c.1421G= (p.Gly474=)
c.3983G= (p.Gly1328=)
c.4748G= (p.Gly1583=)
c.4937G= (p.Gly1646=)
c.4730G= (p.Gly1577=)
c.1433G= (p.Gly478=)
c.1478G= (p.Gly493=)
c.4934G= (p.Gly1645=)
c.1258G=
c.1445G= (p.Gly482=)
c.*4654G= (n.*4654G=)
n.24G=
c.1184G= (p.Gly395=)
c.5-7092G= (n.5-7092G=)
c.344G= (p.Gly115=)
c.-98-20853G= (n.-98-20853G=)
n.5007G=
n.5048G=
17g.43071043C>GCA10591785BRCA1c.4868G>C (p.Gly1623Ala)
c.4871G>C (p.Gly1624Ala)
c.4745G>C (p.Gly1582Ala)
c.4865G>C (p.Gly1622Ala)
c.4793G>C (p.Gly1598Ala)
c.1559G>C (p.Gly520Ala)
c.1421G>C (p.Gly474Ala)
c.3983G>C (p.Gly1328Ala)
c.4748G>C (p.Gly1583Ala)
c.4937G>C (p.Gly1646Ala)
c.4730G>C (p.Gly1577Ala)
c.1433G>C (p.Gly478Ala)
c.1478G>C (p.Gly493Ala)
c.4934G>C (p.Gly1645Ala)
c.1258G>C
c.1445G>C (p.Gly482Ala)
c.*4654G>C (n.*4654G>C)
n.24G>C
c.1184G>C (p.Gly395Ala)
c.5-7092G>C (n.5-7092G>C)
c.344G>C (p.Gly115Ala)
c.-98-20853G>C (n.-98-20853G>C)
n.5007G>C
n.5048G>C
 ClinVar dbSNP
17g.43071043C>TCA10591786BRCA1c.4868G>A (p.Gly1623Glu)
c.4871G>A (p.Gly1624Glu)
c.4745G>A (p.Gly1582Glu)
c.4865G>A (p.Gly1622Glu)
c.4793G>A (p.Gly1598Glu)
c.1559G>A (p.Gly520Glu)
c.1421G>A (p.Gly474Glu)
c.3983G>A (p.Gly1328Glu)
c.4748G>A (p.Gly1583Glu)
c.4937G>A (p.Gly1646Glu)
c.4730G>A (p.Gly1577Glu)
c.1433G>A (p.Gly478Glu)
c.1478G>A (p.Gly493Glu)
c.4934G>A (p.Gly1645Glu)
c.1258G>A
c.1445G>A (p.Gly482Glu)
c.*4654G>A (n.*4654G>A)
n.24G>A
c.1184G>A (p.Gly395Glu)
c.5-7092G>A (n.5-7092G>A)
c.344G>A (p.Gly115Glu)
c.-98-20853G>A (n.-98-20853G>A)
n.5007G>A
n.5048G>A
 ClinVar dbSNP
17g.43071044_43071053delCA658656618BRCA1c.4859_4868del (p.Asp1620GlyfsTer9)
c.4862_4871del (p.Asp1621GlyfsTer9)
c.4736_4745del (p.Asp1579GlyfsTer9)
c.4856_4865del (p.Asp1619GlyfsTer9)
c.4784_4793del (p.Asp1595GlyfsTer9)
c.1550_1559del (p.Asp517GlyfsTer9)
c.1412_1421del (p.Asp471GlyfsTer9)
c.3974_3983del (p.Asp1325GlyfsTer9)
c.4739_4748del (p.Asp1580GlyfsTer9)
c.4928_4937del (p.Asp1643GlyfsTer9)
c.4721_4730del (p.Asp1574GlyfsTer9)
c.1424_1433del (p.Asp475GlyfsTer9)
c.1469_1478del (p.Asp490GlyfsTer9)
c.4925_4934del (p.Asp1642GlyfsTer9)
c.1249_1258del
c.1436_1445del (p.Asp479GlyfsTer9)
c.*4645_*4654del (n.*4645_*4654del)
n.15_24del
c.1175_1184del (p.Asp392GlyfsTer9)
c.5-7101_5-7092del (n.5-7101_5-7092del)
c.335_344del (p.Asp112GlyfsTer9)
c.-98-20862_-98-20853del (n.-98-20862_-98-20853del)
n.4998_5007del
n.5039_5048del
 ClinVar dbSNP
17g.43071043_43071044insTCA1139665578BRCA1c.4867_4868insA (p.Gly1623GlufsTer3)
c.4870_4871insA (p.Gly1624GlufsTer3)
c.4744_4745insA (p.Gly1582GlufsTer3)
c.4864_4865insA (p.Gly1622GlufsTer3)
c.4792_4793insA (p.Gly1598GlufsTer3)
c.1558_1559insA (p.Gly520GlufsTer3)
c.1420_1421insA (p.Gly474GlufsTer3)
c.3982_3983insA (p.Gly1328GlufsTer3)
c.4747_4748insA (p.Gly1583GlufsTer3)
c.4936_4937insA (p.Gly1646GlufsTer3)
c.4729_4730insA (p.Gly1577GlufsTer3)
c.1432_1433insA (p.Gly478GlufsTer3)
c.1477_1478insA (p.Gly493GlufsTer3)
c.4933_4934insA (p.Gly1645GlufsTer3)
c.1257_1258insA
c.1444_1445insA (p.Gly482GlufsTer3)
c.*4653_*4654insA (n.*4653_*4654insA)
n.23_24insA
c.1183_1184insA (p.Gly395GlufsTer3)
c.5-7093_5-7092insA (n.5-7093_5-7092insA)
c.343_344insA (p.Gly115GlufsTer3)
c.-98-20854_-98-20853insA (n.-98-20854_-98-20853insA)
n.5006_5007insA
n.5047_5048insA
 ClinVar dbSNP
17g.43071044C>ACA10591787BRCA1c.4867G>T (p.Gly1623Trp)
c.4870G>T (p.Gly1624Trp)
c.4744G>T (p.Gly1582Trp)
c.4864G>T (p.Gly1622Trp)
c.4792G>T (p.Gly1598Trp)
c.1558G>T (p.Gly520Trp)
c.1420G>T (p.Gly474Trp)
c.3982G>T (p.Gly1328Trp)
c.4747G>T (p.Gly1583Trp)
c.4936G>T (p.Gly1646Trp)
c.4729G>T (p.Gly1577Trp)
c.1432G>T (p.Gly478Trp)
c.1477G>T (p.Gly493Trp)
c.4933G>T (p.Gly1645Trp)
c.1257G>T
c.1444G>T (p.Gly482Trp)
c.*4653G>T (n.*4653G>T)
n.23G>T
c.1183G>T (p.Gly395Trp)
c.5-7093G>T (n.5-7093G>T)
c.343G>T (p.Gly115Trp)
c.-98-20854G>T (n.-98-20854G>T)
n.5006G>T
n.5047G>T
 dbSNP
17g.43071044C>GCA10591788BRCA1c.4867G>C (p.Gly1623Arg)
c.4870G>C (p.Gly1624Arg)
c.4744G>C (p.Gly1582Arg)
c.4864G>C (p.Gly1622Arg)
c.4792G>C (p.Gly1598Arg)
c.1558G>C (p.Gly520Arg)
c.1420G>C (p.Gly474Arg)
c.3982G>C (p.Gly1328Arg)
c.4747G>C (p.Gly1583Arg)
c.4936G>C (p.Gly1646Arg)
c.4729G>C (p.Gly1577Arg)
c.1432G>C (p.Gly478Arg)
c.1477G>C (p.Gly493Arg)
c.4933G>C (p.Gly1645Arg)
c.1257G>C
c.1444G>C (p.Gly482Arg)
c.*4653G>C (n.*4653G>C)
n.23G>C
c.1183G>C (p.Gly395Arg)
c.5-7093G>C (n.5-7093G>C)
c.343G>C (p.Gly115Arg)
c.-98-20854G>C (n.-98-20854G>C)
n.5006G>C
n.5047G>C
 dbSNP
17g.43071044C>TCA10591789BRCA1c.4867G>A (p.Gly1623Arg)
c.4870G>A (p.Gly1624Arg)
c.4744G>A (p.Gly1582Arg)
c.4864G>A (p.Gly1622Arg)
c.4792G>A (p.Gly1598Arg)
c.1558G>A (p.Gly520Arg)
c.1420G>A (p.Gly474Arg)
c.3982G>A (p.Gly1328Arg)
c.4747G>A (p.Gly1583Arg)
c.4936G>A (p.Gly1646Arg)
c.4729G>A (p.Gly1577Arg)
c.1432G>A (p.Gly478Arg)
c.1477G>A (p.Gly493Arg)
c.4933G>A (p.Gly1645Arg)
c.1257G>A
c.1444G>A (p.Gly482Arg)
c.*4653G>A (n.*4653G>A)
n.23G>A
c.1183G>A (p.Gly395Arg)
c.5-7093G>A (n.5-7093G>A)
c.343G>A (p.Gly115Arg)
c.-98-20854G>A (n.-98-20854G>A)
n.5006G>A
n.5047G>A
 dbSNP
17g.43071045A>CCA500231769BRCA1c.4866T>G (p.Ala1622=)
c.4869T>G (p.Ala1623=)
c.4743T>G (p.Ala1581=)
c.4863T>G (p.Ala1621=)
c.4791T>G (p.Ala1597=)
c.1557T>G (p.Ala519=)
c.1419T>G (p.Ala473=)
c.3981T>G (p.Ala1327=)
c.4746T>G (p.Ala1582=)
c.4935T>G (p.Ala1645=)
c.4728T>G (p.Ala1576=)
c.1431T>G (p.Ala477=)
c.1476T>G (p.Ala492=)
c.4932T>G (p.Ala1644=)
c.1256T>G
c.1443T>G (p.Ala481=)
c.*4652T>G (n.*4652T>G)
n.22T>G
c.1182T>G (p.Ala394=)
c.5-7094T>G (n.5-7094T>G)
c.342T>G (p.Ala114=)
c.-98-20855T>G (n.-98-20855T>G)
n.5005T>G
n.5046T>G
17g.43071045A>GCA500231771BRCA1c.4866T>C (p.Ala1622=)
c.4869T>C (p.Ala1623=)
c.4743T>C (p.Ala1581=)
c.4863T>C (p.Ala1621=)
c.4791T>C (p.Ala1597=)
c.1557T>C (p.Ala519=)
c.1419T>C (p.Ala473=)
c.3981T>C (p.Ala1327=)
c.4746T>C (p.Ala1582=)
c.4935T>C (p.Ala1645=)
c.4728T>C (p.Ala1576=)
c.1431T>C (p.Ala477=)
c.1476T>C (p.Ala492=)
c.4932T>C (p.Ala1644=)
c.1256T>C
c.1443T>C (p.Ala481=)
c.*4652T>C (n.*4652T>C)
n.22T>C
c.1182T>C (p.Ala394=)
c.5-7094T>C (n.5-7094T>C)
c.342T>C (p.Ala114=)
c.-98-20855T>C (n.-98-20855T>C)
n.5005T>C
n.5046T>C
 ClinVar dbSNP
17g.43071045A>TCA500231773BRCA1c.4866T>A (p.Ala1622=)
c.4869T>A (p.Ala1623=)
c.4743T>A (p.Ala1581=)
c.4863T>A (p.Ala1621=)
c.4791T>A (p.Ala1597=)
c.1557T>A (p.Ala519=)
c.1419T>A (p.Ala473=)
c.3981T>A (p.Ala1327=)
c.4746T>A (p.Ala1582=)
c.4935T>A (p.Ala1645=)
c.4728T>A (p.Ala1576=)
c.1431T>A (p.Ala477=)
c.1476T>A (p.Ala492=)
c.4932T>A (p.Ala1644=)
c.1256T>A
c.1443T>A (p.Ala481=)
c.*4652T>A (n.*4652T>A)
n.22T>A
c.1182T>A (p.Ala394=)
c.5-7094T>A (n.5-7094T>A)
c.342T>A (p.Ala114=)
c.-98-20855T>A (n.-98-20855T>A)
n.5005T>A
n.5046T>A
 dbSNP
17g.43071046G>ACA10591790BRCA1c.4865C>T (p.Ala1622Val)
c.4868C>T (p.Ala1623Val)
c.4742C>T (p.Ala1581Val)
c.4862C>T (p.Ala1621Val)
c.4790C>T (p.Ala1597Val)
c.1556C>T (p.Ala519Val)
c.1418C>T (p.Ala473Val)
c.3980C>T (p.Ala1327Val)
c.4745C>T (p.Ala1582Val)
c.4934C>T (p.Ala1645Val)
c.4727C>T (p.Ala1576Val)
c.1430C>T (p.Ala477Val)
c.1475C>T (p.Ala492Val)
c.4931C>T (p.Ala1644Val)
c.1255C>T
c.1442C>T (p.Ala481Val)
c.*4651C>T (n.*4651C>T)
n.21C>T
c.1181C>T (p.Ala394Val)
c.5-7095C>T (n.5-7095C>T)
c.341C>T (p.Ala114Val)
c.-98-20856C>T (n.-98-20856C>T)
n.5004C>T
n.5045C>T
 ClinVar dbSNP
17g.43071046G>CCA003058BRCA1c.4865C>G (p.Ala1622Gly)
c.4868C>G (p.Ala1623Gly)
c.4742C>G (p.Ala1581Gly)
c.4862C>G (p.Ala1621Gly)
c.4790C>G (p.Ala1597Gly)
c.1556C>G (p.Ala519Gly)
c.1418C>G (p.Ala473Gly)
c.3980C>G (p.Ala1327Gly)
c.4745C>G (p.Ala1582Gly)
c.4934C>G (p.Ala1645Gly)
c.4727C>G (p.Ala1576Gly)
c.1430C>G (p.Ala477Gly)
c.1475C>G (p.Ala492Gly)
c.4931C>G (p.Ala1644Gly)
c.1255C>G
c.1442C>G (p.Ala481Gly)
c.*4651C>G (n.*4651C>G)
n.21C>G
c.1181C>G (p.Ala394Gly)
c.5-7095C>G (n.5-7095C>G)
c.341C>G (p.Ala114Gly)
c.-98-20856C>G (n.-98-20856C>G)
n.5004C>G
n.5045C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43071046G=CA2260772868BRCA1c.4865C= (p.Ala1622=)
c.4868C= (p.Ala1623=)
c.4742C= (p.Ala1581=)
c.4862C= (p.Ala1621=)
c.4790C= (p.Ala1597=)
c.1556C= (p.Ala519=)
c.1418C= (p.Ala473=)
c.3980C= (p.Ala1327=)
c.4745C= (p.Ala1582=)
c.4934C= (p.Ala1645=)
c.4727C= (p.Ala1576=)
c.1430C= (p.Ala477=)
c.1475C= (p.Ala492=)
c.4931C= (p.Ala1644=)
c.1255C=
c.1442C= (p.Ala481=)
c.*4651C= (n.*4651C=)
n.21C=
c.1181C= (p.Ala394=)
c.5-7095C= (n.5-7095C=)
c.341C= (p.Ala114=)
c.-98-20856C= (n.-98-20856C=)
n.5004C=
n.5045C=
17g.43071046G>TCA10591791BRCA1c.4865C>A (p.Ala1622Asp)
c.4868C>A (p.Ala1623Asp)
c.4742C>A (p.Ala1581Asp)
c.4862C>A (p.Ala1621Asp)
c.4790C>A (p.Ala1597Asp)
c.1556C>A (p.Ala519Asp)
c.1418C>A (p.Ala473Asp)
c.3980C>A (p.Ala1327Asp)
c.4745C>A (p.Ala1582Asp)
c.4934C>A (p.Ala1645Asp)
c.4727C>A (p.Ala1576Asp)
c.1430C>A (p.Ala477Asp)
c.1475C>A (p.Ala492Asp)
c.4931C>A (p.Ala1644Asp)
c.1255C>A
c.1442C>A (p.Ala481Asp)
c.*4651C>A (n.*4651C>A)
n.21C>A
c.1181C>A (p.Ala394Asp)
c.5-7095C>A (n.5-7095C>A)
c.341C>A (p.Ala114Asp)
c.-98-20856C>A (n.-98-20856C>A)
n.5004C>A
n.5045C>A
 dbSNP
17g.43071047C>ACA10591792BRCA1c.4864G>T (p.Ala1622Ser)
c.4867G>T (p.Ala1623Ser)
c.4741G>T (p.Ala1581Ser)
c.4861G>T (p.Ala1621Ser)
c.4789G>T (p.Ala1597Ser)
c.1555G>T (p.Ala519Ser)
c.1417G>T (p.Ala473Ser)
c.3979G>T (p.Ala1327Ser)
c.4744G>T (p.Ala1582Ser)
c.4933G>T (p.Ala1645Ser)
c.4726G>T (p.Ala1576Ser)
c.1429G>T (p.Ala477Ser)
c.1474G>T (p.Ala492Ser)
c.4930G>T (p.Ala1644Ser)
c.1254G>T
c.1441G>T (p.Ala481Ser)
c.*4650G>T (n.*4650G>T)
n.20G>T
c.1180G>T (p.Ala394Ser)
c.5-7096G>T (n.5-7096G>T)
c.340G>T (p.Ala114Ser)
c.-98-20857G>T (n.-98-20857G>T)
n.5003G>T
n.5044G>T
 ClinVar dbSNP
17g.43071047C>GCA10591793BRCA1c.4864G>C (p.Ala1622Pro)
c.4867G>C (p.Ala1623Pro)
c.4741G>C (p.Ala1581Pro)
c.4861G>C (p.Ala1621Pro)
c.4789G>C (p.Ala1597Pro)
c.1555G>C (p.Ala519Pro)
c.1417G>C (p.Ala473Pro)
c.3979G>C (p.Ala1327Pro)
c.4744G>C (p.Ala1582Pro)
c.4933G>C (p.Ala1645Pro)
c.4726G>C (p.Ala1576Pro)
c.1429G>C (p.Ala477Pro)
c.1474G>C (p.Ala492Pro)
c.4930G>C (p.Ala1644Pro)
c.1254G>C
c.1441G>C (p.Ala481Pro)
c.*4650G>C (n.*4650G>C)
n.20G>C
c.1180G>C (p.Ala394Pro)
c.5-7096G>C (n.5-7096G>C)
c.340G>C (p.Ala114Pro)
c.-98-20857G>C (n.-98-20857G>C)
n.5003G>C
n.5044G>C
 dbSNP
17g.43071047C>TCA10591794BRCA1c.4864G>A (p.Ala1622Thr)
c.4867G>A (p.Ala1623Thr)
c.4741G>A (p.Ala1581Thr)
c.4861G>A (p.Ala1621Thr)
c.4789G>A (p.Ala1597Thr)
c.1555G>A (p.Ala519Thr)
c.1417G>A (p.Ala473Thr)
c.3979G>A (p.Ala1327Thr)
c.4744G>A (p.Ala1582Thr)
c.4933G>A (p.Ala1645Thr)
c.4726G>A (p.Ala1576Thr)
c.1429G>A (p.Ala477Thr)
c.1474G>A (p.Ala492Thr)
c.4930G>A (p.Ala1644Thr)
c.1254G>A
c.1441G>A (p.Ala481Thr)
c.*4650G>A (n.*4650G>A)
n.20G>A
c.1180G>A (p.Ala394Thr)
c.5-7096G>A (n.5-7096G>A)
c.340G>A (p.Ala114Thr)
c.-98-20857G>A (n.-98-20857G>A)
n.5003G>A
n.5044G>A
 ClinVar dbSNP
17g.43071048A>CCA500231778BRCA1c.4863T>G (p.Thr1621=)
c.4866T>G (p.Thr1622=)
c.4740T>G (p.Thr1580=)
c.4860T>G (p.Thr1620=)
c.4788T>G (p.Thr1596=)
c.1554T>G (p.Thr518=)
c.1416T>G (p.Thr472=)
c.3978T>G (p.Thr1326=)
c.4743T>G (p.Thr1581=)
c.4932T>G (p.Thr1644=)
c.4725T>G (p.Thr1575=)
c.1428T>G (p.Thr476=)
c.1473T>G (p.Thr491=)
c.4929T>G (p.Thr1643=)
c.1253T>G
c.1440T>G (p.Thr480=)
c.*4649T>G (n.*4649T>G)
n.19T>G
c.1179T>G (p.Thr393=)
c.5-7097T>G (n.5-7097T>G)
c.339T>G (p.Thr113=)
c.-98-20858T>G (n.-98-20858T>G)
n.5002T>G
n.5043T>G
17g.43071048A>GCA500231779BRCA1c.4863T>C (p.Thr1621=)
c.4866T>C (p.Thr1622=)
c.4740T>C (p.Thr1580=)
c.4860T>C (p.Thr1620=)
c.4788T>C (p.Thr1596=)
c.1554T>C (p.Thr518=)
c.1416T>C (p.Thr472=)
c.3978T>C (p.Thr1326=)
c.4743T>C (p.Thr1581=)
c.4932T>C (p.Thr1644=)
c.4725T>C (p.Thr1575=)
c.1428T>C (p.Thr476=)
c.1473T>C (p.Thr491=)
c.4929T>C (p.Thr1643=)
c.1253T>C
c.1440T>C (p.Thr480=)
c.*4649T>C (n.*4649T>C)
n.19T>C
c.1179T>C (p.Thr393=)
c.5-7097T>C (n.5-7097T>C)
c.339T>C (p.Thr113=)
c.-98-20858T>C (n.-98-20858T>C)
n.5002T>C
n.5043T>C
 ClinVar dbSNP
17g.43071048A>TCA500231780BRCA1c.4863T>A (p.Thr1621=)
c.4866T>A (p.Thr1622=)
c.4740T>A (p.Thr1580=)
c.4860T>A (p.Thr1620=)
c.4788T>A (p.Thr1596=)
c.1554T>A (p.Thr518=)
c.1416T>A (p.Thr472=)
c.3978T>A (p.Thr1326=)
c.4743T>A (p.Thr1581=)
c.4932T>A (p.Thr1644=)
c.4725T>A (p.Thr1575=)
c.1428T>A (p.Thr476=)
c.1473T>A (p.Thr491=)
c.4929T>A (p.Thr1643=)
c.1253T>A
c.1440T>A (p.Thr480=)
c.*4649T>A (n.*4649T>A)
n.19T>A
c.1179T>A (p.Thr393=)
c.5-7097T>A (n.5-7097T>A)
c.339T>A (p.Thr113=)
c.-98-20858T>A (n.-98-20858T>A)
n.5002T>A
n.5043T>A
 dbSNP
17g.43071049G>ACA10591795BRCA1c.4862C>T (p.Thr1621Ile)
c.4865C>T (p.Thr1622Ile)
c.4739C>T (p.Thr1580Ile)
c.4859C>T (p.Thr1620Ile)
c.4787C>T (p.Thr1596Ile)
c.1553C>T (p.Thr518Ile)
c.1415C>T (p.Thr472Ile)
c.3977C>T (p.Thr1326Ile)
c.4742C>T (p.Thr1581Ile)
c.4931C>T (p.Thr1644Ile)
c.4724C>T (p.Thr1575Ile)
c.1427C>T (p.Thr476Ile)
c.1472C>T (p.Thr491Ile)
c.4928C>T (p.Thr1643Ile)
c.1252C>T
c.1439C>T (p.Thr480Ile)
c.*4648C>T (n.*4648C>T)
n.18C>T
c.1178C>T (p.Thr393Ile)
c.5-7098C>T (n.5-7098C>T)
c.338C>T (p.Thr113Ile)
c.-98-20859C>T (n.-98-20859C>T)
n.5001C>T
n.5042C>T
 ClinVar dbSNP
17g.43071049G>CCA003057BRCA1c.4862C>G (p.Thr1621Ser)
c.4865C>G (p.Thr1622Ser)
c.4739C>G (p.Thr1580Ser)
c.4859C>G (p.Thr1620Ser)
c.4787C>G (p.Thr1596Ser)
c.1553C>G (p.Thr518Ser)
c.1415C>G (p.Thr472Ser)
c.3977C>G (p.Thr1326Ser)
c.4742C>G (p.Thr1581Ser)
c.4931C>G (p.Thr1644Ser)
c.4724C>G (p.Thr1575Ser)
c.1427C>G (p.Thr476Ser)
c.1472C>G (p.Thr491Ser)
c.4928C>G (p.Thr1643Ser)
c.1252C>G
c.1439C>G (p.Thr480Ser)
c.*4648C>G (n.*4648C>G)
n.18C>G
c.1178C>G (p.Thr393Ser)
c.5-7098C>G (n.5-7098C>G)
c.338C>G (p.Thr113Ser)
c.-98-20859C>G (n.-98-20859C>G)
n.5001C>G
n.5042C>G
 ClinVar dbSNP
17g.43071049G=CA2260772869BRCA1c.4862C= (p.Thr1621=)
c.4865C= (p.Thr1622=)
c.4739C= (p.Thr1580=)
c.4859C= (p.Thr1620=)
c.4787C= (p.Thr1596=)
c.1553C= (p.Thr518=)
c.1415C= (p.Thr472=)
c.3977C= (p.Thr1326=)
c.4742C= (p.Thr1581=)
c.4931C= (p.Thr1644=)
c.4724C= (p.Thr1575=)
c.1427C= (p.Thr476=)
c.1472C= (p.Thr491=)
c.4928C= (p.Thr1643=)
c.1252C=
c.1439C= (p.Thr480=)
c.*4648C= (n.*4648C=)
n.18C=
c.1178C= (p.Thr393=)
c.5-7098C= (n.5-7098C=)
c.338C= (p.Thr113=)
c.-98-20859C= (n.-98-20859C=)
n.5001C=
n.5042C=
17g.43071049G>TCA10591796BRCA1c.4862C>A (p.Thr1621Asn)
c.4865C>A (p.Thr1622Asn)
c.4739C>A (p.Thr1580Asn)
c.4859C>A (p.Thr1620Asn)
c.4787C>A (p.Thr1596Asn)
c.1553C>A (p.Thr518Asn)
c.1415C>A (p.Thr472Asn)
c.3977C>A (p.Thr1326Asn)
c.4742C>A (p.Thr1581Asn)
c.4931C>A (p.Thr1644Asn)
c.4724C>A (p.Thr1575Asn)
c.1427C>A (p.Thr476Asn)
c.1472C>A (p.Thr491Asn)
c.4928C>A (p.Thr1643Asn)
c.1252C>A
c.1439C>A (p.Thr480Asn)
c.*4648C>A (n.*4648C>A)
n.18C>A
c.1178C>A (p.Thr393Asn)
c.5-7098C>A (n.5-7098C>A)
c.338C>A (p.Thr113Asn)
c.-98-20859C>A (n.-98-20859C>A)
n.5001C>A
n.5042C>A
17g.43071050T>ACA10591797BRCA1c.4861A>T (p.Thr1621Ser)
c.4864A>T (p.Thr1622Ser)
c.4738A>T (p.Thr1580Ser)
c.4858A>T (p.Thr1620Ser)
c.4786A>T (p.Thr1596Ser)
c.1552A>T (p.Thr518Ser)
c.1414A>T (p.Thr472Ser)
c.3976A>T (p.Thr1326Ser)
c.4741A>T (p.Thr1581Ser)
c.4930A>T (p.Thr1644Ser)
c.4723A>T (p.Thr1575Ser)
c.1426A>T (p.Thr476Ser)
c.1471A>T (p.Thr491Ser)
c.4927A>T (p.Thr1643Ser)
c.1251A>T
c.1438A>T (p.Thr480Ser)
c.*4647A>T (n.*4647A>T)
n.17A>T
c.1177A>T (p.Thr393Ser)
c.5-7099A>T (n.5-7099A>T)
c.337A>T (p.Thr113Ser)
c.-98-20860A>T (n.-98-20860A>T)
n.5000A>T
n.5041A>T
 dbSNP
17g.43071050T>CCA003056BRCA1c.4861A>G (p.Thr1621Ala)
c.4864A>G (p.Thr1622Ala)
c.4738A>G (p.Thr1580Ala)
c.4858A>G (p.Thr1620Ala)
c.4786A>G (p.Thr1596Ala)
c.1552A>G (p.Thr518Ala)
c.1414A>G (p.Thr472Ala)
c.3976A>G (p.Thr1326Ala)
c.4741A>G (p.Thr1581Ala)
c.4930A>G (p.Thr1644Ala)
c.4723A>G (p.Thr1575Ala)
c.1426A>G (p.Thr476Ala)
c.1471A>G (p.Thr491Ala)
c.4927A>G (p.Thr1643Ala)
c.1251A>G
c.1438A>G (p.Thr480Ala)
c.*4647A>G (n.*4647A>G)
n.17A>G
c.1177A>G (p.Thr393Ala)
c.5-7099A>G (n.5-7099A>G)
c.337A>G (p.Thr113Ala)
c.-98-20860A>G (n.-98-20860A>G)
n.5000A>G
n.5041A>G
 ClinVar dbSNP
17g.43071050T>GCA10591798BRCA1c.4861A>C (p.Thr1621Pro)
c.4864A>C (p.Thr1622Pro)
c.4738A>C (p.Thr1580Pro)
c.4858A>C (p.Thr1620Pro)
c.4786A>C (p.Thr1596Pro)
c.1552A>C (p.Thr518Pro)
c.1414A>C (p.Thr472Pro)
c.3976A>C (p.Thr1326Pro)
c.4741A>C (p.Thr1581Pro)
c.4930A>C (p.Thr1644Pro)
c.4723A>C (p.Thr1575Pro)
c.1426A>C (p.Thr476Pro)
c.1471A>C (p.Thr491Pro)
c.4927A>C (p.Thr1643Pro)
c.1251A>C
c.1438A>C (p.Thr480Pro)
c.*4647A>C (n.*4647A>C)
n.17A>C
c.1177A>C (p.Thr393Pro)
c.5-7099A>C (n.5-7099A>C)
c.337A>C (p.Thr113Pro)
c.-98-20860A>C (n.-98-20860A>C)
n.5000A>C
n.5041A>C
17g.43071050T=CA2260772870BRCA1c.4861A= (p.Thr1621=)
c.4864A= (p.Thr1622=)
c.4738A= (p.Thr1580=)
c.4858A= (p.Thr1620=)
c.4786A= (p.Thr1596=)
c.1552A= (p.Thr518=)
c.1414A= (p.Thr472=)
c.3976A= (p.Thr1326=)
c.4741A= (p.Thr1581=)
c.4930A= (p.Thr1644=)
c.4723A= (p.Thr1575=)
c.1426A= (p.Thr476=)
c.1471A= (p.Thr491=)
c.4927A= (p.Thr1643=)
c.1251A=
c.1438A= (p.Thr480=)
c.*4647A= (n.*4647A=)
n.17A=
c.1177A= (p.Thr393=)
c.5-7099A= (n.5-7099A=)
c.337A= (p.Thr113=)
c.-98-20860A= (n.-98-20860A=)
n.5000A=
n.5041A=
17g.43071051A>CCA10591799BRCA1c.4860T>G (p.Asp1620Glu)
c.4863T>G (p.Asp1621Glu)
c.4737T>G (p.Asp1579Glu)
c.4857T>G (p.Asp1619Glu)
c.4785T>G (p.Asp1595Glu)
c.1551T>G (p.Asp517Glu)
c.1413T>G (p.Asp471Glu)
c.3975T>G (p.Asp1325Glu)
c.4740T>G (p.Asp1580Glu)
c.4929T>G (p.Asp1643Glu)
c.4722T>G (p.Asp1574Glu)
c.1425T>G (p.Asp475Glu)
c.1470T>G (p.Asp490Glu)
c.4926T>G (p.Asp1642Glu)
c.1250T>G
c.1437T>G (p.Asp479Glu)
c.*4646T>G (n.*4646T>G)
n.16T>G
c.1176T>G (p.Asp392Glu)
c.5-7100T>G (n.5-7100T>G)
c.336T>G (p.Asp112Glu)
c.-98-20861T>G (n.-98-20861T>G)
n.4999T>G
n.5040T>G
 dbSNP
17g.43071051A>GCA500231784BRCA1c.4860T>C (p.Asp1620=)
c.4863T>C (p.Asp1621=)
c.4737T>C (p.Asp1579=)
c.4857T>C (p.Asp1619=)
c.4785T>C (p.Asp1595=)
c.1551T>C (p.Asp517=)
c.1413T>C (p.Asp471=)
c.3975T>C (p.Asp1325=)
c.4740T>C (p.Asp1580=)
c.4929T>C (p.Asp1643=)
c.4722T>C (p.Asp1574=)
c.1425T>C (p.Asp475=)
c.1470T>C (p.Asp490=)
c.4926T>C (p.Asp1642=)
c.1250T>C
c.1437T>C (p.Asp479=)
c.*4646T>C (n.*4646T>C)
n.16T>C
c.1176T>C (p.Asp392=)
c.5-7100T>C (n.5-7100T>C)
c.336T>C (p.Asp112=)
c.-98-20861T>C (n.-98-20861T>C)
n.4999T>C
n.5040T>C
17g.43071051A>TCA10591800BRCA1c.4860T>A (p.Asp1620Glu)
c.4863T>A (p.Asp1621Glu)
c.4737T>A (p.Asp1579Glu)
c.4857T>A (p.Asp1619Glu)
c.4785T>A (p.Asp1595Glu)
c.1551T>A (p.Asp517Glu)
c.1413T>A (p.Asp471Glu)
c.3975T>A (p.Asp1325Glu)
c.4740T>A (p.Asp1580Glu)
c.4929T>A (p.Asp1643Glu)
c.4722T>A (p.Asp1574Glu)
c.1425T>A (p.Asp475Glu)
c.1470T>A (p.Asp490Glu)
c.4926T>A (p.Asp1642Glu)
c.1250T>A
c.1437T>A (p.Asp479Glu)
c.*4646T>A (n.*4646T>A)
n.16T>A
c.1176T>A (p.Asp392Glu)
c.5-7100T>A (n.5-7100T>A)
c.336T>A (p.Asp112Glu)
c.-98-20861T>A (n.-98-20861T>A)
n.4999T>A
n.5040T>A
 dbSNP
17g.43071051_43071052insCCA2499224392BRCA1c.4859_4860insG (p.Asp1620GlufsTer6)
c.4862_4863insG (p.Asp1621GlufsTer6)
c.4736_4737insG (p.Asp1579GlufsTer6)
c.4856_4857insG (p.Asp1619GlufsTer6)
c.4784_4785insG (p.Asp1595GlufsTer6)
c.1550_1551insG (p.Asp517GlufsTer6)
c.1412_1413insG (p.Asp471GlufsTer6)
c.3974_3975insG (p.Asp1325GlufsTer6)
c.4739_4740insG (p.Asp1580GlufsTer6)
c.4928_4929insG (p.Asp1643GlufsTer6)
c.4721_4722insG (p.Asp1574GlufsTer6)
c.1424_1425insG (p.Asp475GlufsTer6)
c.1469_1470insG (p.Asp490GlufsTer6)
c.4925_4926insG (p.Asp1642GlufsTer6)
c.1249_1250insG
c.1436_1437insG (p.Asp479GlufsTer6)
c.*4645_*4646insG (n.*4645_*4646insG)
n.15_16insG
c.1175_1176insG (p.Asp392GlufsTer6)
c.5-7101_5-7100insG (n.5-7101_5-7100insG)
c.335_336insG (p.Asp112GlufsTer6)
c.-98-20862_-98-20861insG (n.-98-20862_-98-20861insG)
n.4998_4999insG
n.5039_5040insG
 ClinVar dbSNP
17g.43071052delCA2499224393BRCA1c.4859del (p.Asp1620ValfsTer12)
c.4862del (p.Asp1621ValfsTer12)
c.4736del (p.Asp1579ValfsTer12)
c.4856del (p.Asp1619ValfsTer12)
c.4784del (p.Asp1595ValfsTer12)
c.1550del (p.Asp517ValfsTer12)
c.1412del (p.Asp471ValfsTer12)
c.3974del (p.Asp1325ValfsTer12)
c.4739del (p.Asp1580ValfsTer12)
c.4928del (p.Asp1643ValfsTer12)
c.4721del (p.Asp1574ValfsTer12)
c.1424del (p.Asp475ValfsTer12)
c.1469del (p.Asp490ValfsTer12)
c.4925del (p.Asp1642ValfsTer12)
c.1249del
c.1436del (p.Asp479ValfsTer12)
c.*4645del (n.*4645del)
n.15del
c.1175del (p.Asp392ValfsTer12)
c.5-7101del (n.5-7101del)
c.335del (p.Asp112ValfsTer12)
c.-98-20862del (n.-98-20862del)
n.4998del
n.5039del
17g.43071052T>ACA10591801BRCA1c.4859A>T (p.Asp1620Val)
c.4862A>T (p.Asp1621Val)
c.4736A>T (p.Asp1579Val)
c.4856A>T (p.Asp1619Val)
c.4784A>T (p.Asp1595Val)
c.1550A>T (p.Asp517Val)
c.1412A>T (p.Asp471Val)
c.3974A>T (p.Asp1325Val)
c.4739A>T (p.Asp1580Val)
c.4928A>T (p.Asp1643Val)
c.4721A>T (p.Asp1574Val)
c.1424A>T (p.Asp475Val)
c.1469A>T (p.Asp490Val)
c.4925A>T (p.Asp1642Val)
c.1249A>T
c.1436A>T (p.Asp479Val)
c.*4645A>T (n.*4645A>T)
n.15A>T
c.1175A>T (p.Asp392Val)
c.5-7101A>T (n.5-7101A>T)
c.335A>T (p.Asp112Val)
c.-98-20862A>T (n.-98-20862A>T)
n.4998A>T
n.5039A>T
 ClinVar dbSNP
17g.43071052T>CCA10591802BRCA1c.4859A>G (p.Asp1620Gly)
c.4862A>G (p.Asp1621Gly)
c.4736A>G (p.Asp1579Gly)
c.4856A>G (p.Asp1619Gly)
c.4784A>G (p.Asp1595Gly)
c.1550A>G (p.Asp517Gly)
c.1412A>G (p.Asp471Gly)
c.3974A>G (p.Asp1325Gly)
c.4739A>G (p.Asp1580Gly)
c.4928A>G (p.Asp1643Gly)
c.4721A>G (p.Asp1574Gly)
c.1424A>G (p.Asp475Gly)
c.1469A>G (p.Asp490Gly)
c.4925A>G (p.Asp1642Gly)
c.1249A>G
c.1436A>G (p.Asp479Gly)
c.*4645A>G (n.*4645A>G)
n.15A>G
c.1175A>G (p.Asp392Gly)
c.5-7101A>G (n.5-7101A>G)
c.335A>G (p.Asp112Gly)
c.-98-20862A>G (n.-98-20862A>G)
n.4998A>G
n.5039A>G
 ClinVar dbSNP
17g.43071052T>GCA10591803BRCA1c.4859A>C (p.Asp1620Ala)
c.4862A>C (p.Asp1621Ala)
c.4736A>C (p.Asp1579Ala)
c.4856A>C (p.Asp1619Ala)
c.4784A>C (p.Asp1595Ala)
c.1550A>C (p.Asp517Ala)
c.1412A>C (p.Asp471Ala)
c.3974A>C (p.Asp1325Ala)
c.4739A>C (p.Asp1580Ala)
c.4928A>C (p.Asp1643Ala)
c.4721A>C (p.Asp1574Ala)
c.1424A>C (p.Asp475Ala)
c.1469A>C (p.Asp490Ala)
c.4925A>C (p.Asp1642Ala)
c.1249A>C
c.1436A>C (p.Asp479Ala)
c.*4645A>C (n.*4645A>C)
n.15A>C
c.1175A>C (p.Asp392Ala)
c.5-7101A>C (n.5-7101A>C)
c.335A>C (p.Asp112Ala)
c.-98-20862A>C (n.-98-20862A>C)
n.4998A>C
n.5039A>C
 ClinVar dbSNP
17g.43071052T=CA2260772871BRCA1c.4859A= (p.Asp1620=)
c.4862A= (p.Asp1621=)
c.4736A= (p.Asp1579=)
c.4856A= (p.Asp1619=)
c.4784A= (p.Asp1595=)
c.1550A= (p.Asp517=)
c.1412A= (p.Asp471=)
c.3974A= (p.Asp1325=)
c.4739A= (p.Asp1580=)
c.4928A= (p.Asp1643=)
c.4721A= (p.Asp1574=)
c.1424A= (p.Asp475=)
c.1469A= (p.Asp490=)
c.4925A= (p.Asp1642=)
c.1249A=
c.1436A= (p.Asp479=)
c.*4645A= (n.*4645A=)
n.15A=
c.1175A= (p.Asp392=)
c.5-7101A= (n.5-7101A=)
c.335A= (p.Asp112=)
c.-98-20862A= (n.-98-20862A=)
n.4998A=
n.5039A=
17g.43071053C>ACA10591804BRCA1c.4858G>T (p.Asp1620Tyr)
c.4861G>T (p.Asp1621Tyr)
c.4735G>T (p.Asp1579Tyr)
c.4855G>T (p.Asp1619Tyr)
c.4783G>T (p.Asp1595Tyr)
c.1549G>T (p.Asp517Tyr)
c.1411G>T (p.Asp471Tyr)
c.3973G>T (p.Asp1325Tyr)
c.4738G>T (p.Asp1580Tyr)
c.4927G>T (p.Asp1643Tyr)
c.4720G>T (p.Asp1574Tyr)
c.1423G>T (p.Asp475Tyr)
c.1468G>T (p.Asp490Tyr)
c.4924G>T (p.Asp1642Tyr)
c.1248G>T
c.1435G>T (p.Asp479Tyr)
c.*4644G>T (n.*4644G>T)
n.14G>T
c.1174G>T (p.Asp392Tyr)
c.5-7102G>T (n.5-7102G>T)
c.334G>T (p.Asp112Tyr)
c.-98-20863G>T (n.-98-20863G>T)
n.4997G>T
n.5038G>T
 dbSNP
17g.43071053C>GCA10591805BRCA1c.4858G>C (p.Asp1620His)
c.4861G>C (p.Asp1621His)
c.4735G>C (p.Asp1579His)
c.4855G>C (p.Asp1619His)
c.4783G>C (p.Asp1595His)
c.1549G>C (p.Asp517His)
c.1411G>C (p.Asp471His)
c.3973G>C (p.Asp1325His)
c.4738G>C (p.Asp1580His)
c.4927G>C (p.Asp1643His)
c.4720G>C (p.Asp1574His)
c.1423G>C (p.Asp475His)
c.1468G>C (p.Asp490His)
c.4924G>C (p.Asp1642His)
c.1248G>C
c.1435G>C (p.Asp479His)
c.*4644G>C (n.*4644G>C)
n.14G>C
c.1174G>C (p.Asp392His)
c.5-7102G>C (n.5-7102G>C)
c.334G>C (p.Asp112His)
c.-98-20863G>C (n.-98-20863G>C)
n.4997G>C
n.5038G>C
 dbSNP
17g.43071053C>TCA10591806BRCA1c.4858G>A (p.Asp1620Asn)
c.4861G>A (p.Asp1621Asn)
c.4735G>A (p.Asp1579Asn)
c.4855G>A (p.Asp1619Asn)
c.4783G>A (p.Asp1595Asn)
c.1549G>A (p.Asp517Asn)
c.1411G>A (p.Asp471Asn)
c.3973G>A (p.Asp1325Asn)
c.4738G>A (p.Asp1580Asn)
c.4927G>A (p.Asp1643Asn)
c.4720G>A (p.Asp1574Asn)
c.1423G>A (p.Asp475Asn)
c.1468G>A (p.Asp490Asn)
c.4924G>A (p.Asp1642Asn)
c.1248G>A
c.1435G>A (p.Asp479Asn)
c.*4644G>A (n.*4644G>A)
n.14G>A
c.1174G>A (p.Asp392Asn)
c.5-7102G>A (n.5-7102G>A)
c.334G>A (p.Asp112Asn)
c.-98-20863G>A (n.-98-20863G>A)
n.4997G>A
n.5038G>A
 dbSNP
17g.43071054A=CA2260772872BRCA1c.4857T= (p.Thr1619=)
c.4860T= (p.Thr1620=)
c.4734T= (p.Thr1578=)
c.4854T= (p.Thr1618=)
c.4782T= (p.Thr1594=)
c.1548T= (p.Thr516=)
c.1410T= (p.Thr470=)
c.3972T= (p.Thr1324=)
c.4737T= (p.Thr1579=)
c.4926T= (p.Thr1642=)
c.4719T= (p.Thr1573=)
c.1422T= (p.Thr474=)
c.1467T= (p.Thr489=)
c.4923T= (p.Thr1641=)
c.1247T=
c.1434T= (p.Thr478=)
c.*4643T= (n.*4643T=)
n.13T=
c.1173T= (p.Thr391=)
c.5-7103T= (n.5-7103T=)
c.333T= (p.Thr111=)
c.-98-20864T= (n.-98-20864T=)
n.4996T=
n.5037T=
17g.43071054A>CCA500231787BRCA1c.4857T>G (p.Thr1619=)
c.4860T>G (p.Thr1620=)
c.4734T>G (p.Thr1578=)
c.4854T>G (p.Thr1618=)
c.4782T>G (p.Thr1594=)
c.1548T>G (p.Thr516=)
c.1410T>G (p.Thr470=)
c.3972T>G (p.Thr1324=)
c.4737T>G (p.Thr1579=)
c.4926T>G (p.Thr1642=)
c.4719T>G (p.Thr1573=)
c.1422T>G (p.Thr474=)
c.1467T>G (p.Thr489=)
c.4923T>G (p.Thr1641=)
c.1247T>G
c.1434T>G (p.Thr478=)
c.*4643T>G (n.*4643T>G)
n.13T>G
c.1173T>G (p.Thr391=)
c.5-7103T>G (n.5-7103T>G)
c.333T>G (p.Thr111=)
c.-98-20864T>G (n.-98-20864T>G)
n.4996T>G
n.5037T>G
17g.43071054A>GCA053379BRCA1c.4857T>C (p.Thr1619=)
c.4860T>C (p.Thr1620=)
c.4734T>C (p.Thr1578=)
c.4854T>C (p.Thr1618=)
c.4782T>C (p.Thr1594=)
c.1548T>C (p.Thr516=)
c.1410T>C (p.Thr470=)
c.3972T>C (p.Thr1324=)
c.4737T>C (p.Thr1579=)
c.4926T>C (p.Thr1642=)
c.4719T>C (p.Thr1573=)
c.1422T>C (p.Thr474=)
c.1467T>C (p.Thr489=)
c.4923T>C (p.Thr1641=)
c.1247T>C
c.1434T>C (p.Thr478=)
c.*4643T>C (n.*4643T>C)
n.13T>C
c.1173T>C (p.Thr391=)
c.5-7103T>C (n.5-7103T>C)
c.333T>C (p.Thr111=)
c.-98-20864T>C (n.-98-20864T>C)
n.4996T>C
n.5037T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43071054A>TCA500231786BRCA1c.4857T>A (p.Thr1619=)
c.4860T>A (p.Thr1620=)
c.4734T>A (p.Thr1578=)
c.4854T>A (p.Thr1618=)
c.4782T>A (p.Thr1594=)
c.1548T>A (p.Thr516=)
c.1410T>A (p.Thr470=)
c.3972T>A (p.Thr1324=)
c.4737T>A (p.Thr1579=)
c.4926T>A (p.Thr1642=)
c.4719T>A (p.Thr1573=)
c.1422T>A (p.Thr474=)
c.1467T>A (p.Thr489=)
c.4923T>A (p.Thr1641=)
c.1247T>A
c.1434T>A (p.Thr478=)
c.*4643T>A (n.*4643T>A)
n.13T>A
c.1173T>A (p.Thr391=)
c.5-7103T>A (n.5-7103T>A)
c.333T>A (p.Thr111=)
c.-98-20864T>A (n.-98-20864T>A)
n.4996T>A
n.5037T>A
 dbSNP
17g.43071055G>ACA10591807BRCA1c.4856C>T (p.Thr1619Ile)
c.4859C>T (p.Thr1620Ile)
c.4733C>T (p.Thr1578Ile)
c.4853C>T (p.Thr1618Ile)
c.4781C>T (p.Thr1594Ile)
c.1547C>T (p.Thr516Ile)
c.1409C>T (p.Thr470Ile)
c.3971C>T (p.Thr1324Ile)
c.4736C>T (p.Thr1579Ile)
c.4925C>T (p.Thr1642Ile)
c.4718C>T (p.Thr1573Ile)
c.1421C>T (p.Thr474Ile)
c.1466C>T (p.Thr489Ile)
c.4922C>T (p.Thr1641Ile)
c.1246C>T
c.1433C>T (p.Thr478Ile)
c.*4642C>T (n.*4642C>T)
n.12C>T
c.1172C>T (p.Thr391Ile)
c.5-7104C>T (n.5-7104C>T)
c.332C>T (p.Thr111Ile)
c.-98-20865C>T (n.-98-20865C>T)
n.4995C>T
n.5036C>T
 ClinVar dbSNP
17g.43071055G>CCA10591808BRCA1c.4856C>G (p.Thr1619Ser)
c.4859C>G (p.Thr1620Ser)
c.4733C>G (p.Thr1578Ser)
c.4853C>G (p.Thr1618Ser)
c.4781C>G (p.Thr1594Ser)
c.1547C>G (p.Thr516Ser)
c.1409C>G (p.Thr470Ser)
c.3971C>G (p.Thr1324Ser)
c.4736C>G (p.Thr1579Ser)
c.4925C>G (p.Thr1642Ser)
c.4718C>G (p.Thr1573Ser)
c.1421C>G (p.Thr474Ser)
c.1466C>G (p.Thr489Ser)
c.4922C>G (p.Thr1641Ser)
c.1246C>G
c.1433C>G (p.Thr478Ser)
c.*4642C>G (n.*4642C>G)
n.12C>G
c.1172C>G (p.Thr391Ser)
c.5-7104C>G (n.5-7104C>G)
c.332C>G (p.Thr111Ser)
c.-98-20865C>G (n.-98-20865C>G)
n.4995C>G
n.5036C>G
 dbSNP
17g.43071055G>TCA10591809BRCA1c.4856C>A (p.Thr1619Asn)
c.4859C>A (p.Thr1620Asn)
c.4733C>A (p.Thr1578Asn)
c.4853C>A (p.Thr1618Asn)
c.4781C>A (p.Thr1594Asn)
c.1547C>A (p.Thr516Asn)
c.1409C>A (p.Thr470Asn)
c.3971C>A (p.Thr1324Asn)
c.4736C>A (p.Thr1579Asn)
c.4925C>A (p.Thr1642Asn)
c.4718C>A (p.Thr1573Asn)
c.1421C>A (p.Thr474Asn)
c.1466C>A (p.Thr489Asn)
c.4922C>A (p.Thr1641Asn)
c.1246C>A
c.1433C>A (p.Thr478Asn)
c.*4642C>A (n.*4642C>A)
n.12C>A
c.1172C>A (p.Thr391Asn)
c.5-7104C>A (n.5-7104C>A)
c.332C>A (p.Thr111Asn)
c.-98-20865C>A (n.-98-20865C>A)
n.4995C>A
n.5036C>A
17g.43071056T>ACA10591810BRCA1c.4855A>T (p.Thr1619Ser)
c.4858A>T (p.Thr1620Ser)
c.4732A>T (p.Thr1578Ser)
c.4852A>T (p.Thr1618Ser)
c.4780A>T (p.Thr1594Ser)
c.1546A>T (p.Thr516Ser)
c.1408A>T (p.Thr470Ser)
c.3970A>T (p.Thr1324Ser)
c.4735A>T (p.Thr1579Ser)
c.4924A>T (p.Thr1642Ser)
c.4717A>T (p.Thr1573Ser)
c.1420A>T (p.Thr474Ser)
c.1465A>T (p.Thr489Ser)
c.4921A>T (p.Thr1641Ser)
c.1245A>T
c.1432A>T (p.Thr478Ser)
c.*4641A>T (n.*4641A>T)
n.11A>T
c.1171A>T (p.Thr391Ser)
c.5-7105A>T (n.5-7105A>T)
c.331A>T (p.Thr111Ser)
c.-98-20866A>T (n.-98-20866A>T)
n.4994A>T
n.5035A>T
 dbSNP
17g.43071056T>CCA003055BRCA1c.4855A>G (p.Thr1619Ala)
c.4858A>G (p.Thr1620Ala)
c.4732A>G (p.Thr1578Ala)
c.4852A>G (p.Thr1618Ala)
c.4780A>G (p.Thr1594Ala)
c.1546A>G (p.Thr516Ala)
c.1408A>G (p.Thr470Ala)
c.3970A>G (p.Thr1324Ala)
c.4735A>G (p.Thr1579Ala)
c.4924A>G (p.Thr1642Ala)
c.4717A>G (p.Thr1573Ala)
c.1420A>G (p.Thr474Ala)
c.1465A>G (p.Thr489Ala)
c.4921A>G (p.Thr1641Ala)
c.1245A>G
c.1432A>G (p.Thr478Ala)
c.*4641A>G (n.*4641A>G)
n.11A>G
c.1171A>G (p.Thr391Ala)
c.5-7105A>G (n.5-7105A>G)
c.331A>G (p.Thr111Ala)
c.-98-20866A>G (n.-98-20866A>G)
n.4994A>G
n.5035A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43071056T>GCA10591811BRCA1c.4855A>C (p.Thr1619Pro)
c.4858A>C (p.Thr1620Pro)
c.4732A>C (p.Thr1578Pro)
c.4852A>C (p.Thr1618Pro)
c.4780A>C (p.Thr1594Pro)
c.1546A>C (p.Thr516Pro)
c.1408A>C (p.Thr470Pro)
c.3970A>C (p.Thr1324Pro)
c.4735A>C (p.Thr1579Pro)
c.4924A>C (p.Thr1642Pro)
c.4717A>C (p.Thr1573Pro)
c.1420A>C (p.Thr474Pro)
c.1465A>C (p.Thr489Pro)
c.4921A>C (p.Thr1641Pro)
c.1245A>C
c.1432A>C (p.Thr478Pro)
c.*4641A>C (n.*4641A>C)
n.11A>C
c.1171A>C (p.Thr391Pro)
c.5-7105A>C (n.5-7105A>C)
c.331A>C (p.Thr111Pro)
c.-98-20866A>C (n.-98-20866A>C)
n.4994A>C
n.5035A>C
17g.43071056T=CA2260772873BRCA1c.4855A= (p.Thr1619=)
c.4858A= (p.Thr1620=)
c.4732A= (p.Thr1578=)
c.4852A= (p.Thr1618=)
c.4780A= (p.Thr1594=)
c.1546A= (p.Thr516=)
c.1408A= (p.Thr470=)
c.3970A= (p.Thr1324=)
c.4735A= (p.Thr1579=)
c.4924A= (p.Thr1642=)
c.4717A= (p.Thr1573=)
c.1420A= (p.Thr474=)
c.1465A= (p.Thr489=)
c.4921A= (p.Thr1641=)
c.1245A=
c.1432A= (p.Thr478=)
c.*4641A= (n.*4641A=)
n.11A=
c.1171A= (p.Thr391=)
c.5-7105A= (n.5-7105A=)
c.331A= (p.Thr111=)
c.-98-20866A= (n.-98-20866A=)
n.4994A=
n.5035A=
17g.43071057A>CCA500231789BRCA1c.4854T>G (p.Thr1618=)
c.4857T>G (p.Thr1619=)
c.4731T>G (p.Thr1577=)
c.4851T>G (p.Thr1617=)
c.4779T>G (p.Thr1593=)
c.1545T>G (p.Thr515=)
c.1407T>G (p.Thr469=)
c.3969T>G (p.Thr1323=)
c.4734T>G (p.Thr1578=)
c.4923T>G (p.Thr1641=)
c.4716T>G (p.Thr1572=)
c.1419T>G (p.Thr473=)
c.1464T>G (p.Thr488=)
c.4920T>G (p.Thr1640=)
c.1244T>G
c.1431T>G (p.Thr477=)
c.*4640T>G (n.*4640T>G)
n.10T>G
c.1170T>G (p.Thr390=)
c.5-7106T>G (n.5-7106T>G)
c.330T>G (p.Thr110=)
c.-98-20867T>G (n.-98-20867T>G)
n.4993T>G
n.5034T>G
17g.43071057A>GCA500231790BRCA1c.4854T>C (p.Thr1618=)
c.4857T>C (p.Thr1619=)
c.4731T>C (p.Thr1577=)
c.4851T>C (p.Thr1617=)
c.4779T>C (p.Thr1593=)
c.1545T>C (p.Thr515=)
c.1407T>C (p.Thr469=)
c.3969T>C (p.Thr1323=)
c.4734T>C (p.Thr1578=)
c.4923T>C (p.Thr1641=)
c.4716T>C (p.Thr1572=)
c.1419T>C (p.Thr473=)
c.1464T>C (p.Thr488=)
c.4920T>C (p.Thr1640=)
c.1244T>C
c.1431T>C (p.Thr477=)
c.*4640T>C (n.*4640T>C)
n.10T>C
c.1170T>C (p.Thr390=)
c.5-7106T>C (n.5-7106T>C)
c.330T>C (p.Thr110=)
c.-98-20867T>C (n.-98-20867T>C)
n.4993T>C
n.5034T>C
 dbSNP
17g.43071057A>TCA500231791BRCA1c.4854T>A (p.Thr1618=)
c.4857T>A (p.Thr1619=)
c.4731T>A (p.Thr1577=)
c.4851T>A (p.Thr1617=)
c.4779T>A (p.Thr1593=)
c.1545T>A (p.Thr515=)
c.1407T>A (p.Thr469=)
c.3969T>A (p.Thr1323=)
c.4734T>A (p.Thr1578=)
c.4923T>A (p.Thr1641=)
c.4716T>A (p.Thr1572=)
c.1419T>A (p.Thr473=)
c.1464T>A (p.Thr488=)
c.4920T>A (p.Thr1640=)
c.1244T>A
c.1431T>A (p.Thr477=)
c.*4640T>A (n.*4640T>A)
n.10T>A
c.1170T>A (p.Thr390=)
c.5-7106T>A (n.5-7106T>A)
c.330T>A (p.Thr110=)
c.-98-20867T>A (n.-98-20867T>A)
n.4993T>A
n.5034T>A
 dbSNP
17g.43071058G>ACA10580507BRCA1c.4853C>T (p.Thr1618Ile)
c.4856C>T (p.Thr1619Ile)
c.4730C>T (p.Thr1577Ile)
c.4850C>T (p.Thr1617Ile)
c.4778C>T (p.Thr1593Ile)
c.1544C>T (p.Thr515Ile)
c.1406C>T (p.Thr469Ile)
c.3968C>T (p.Thr1323Ile)
c.4733C>T (p.Thr1578Ile)
c.4922C>T (p.Thr1641Ile)
c.4715C>T (p.Thr1572Ile)
c.1418C>T (p.Thr473Ile)
c.1463C>T (p.Thr488Ile)
c.4919C>T (p.Thr1640Ile)
c.1243C>T
c.1430C>T (p.Thr477Ile)
c.*4639C>T (n.*4639C>T)
n.9C>T
c.1169C>T (p.Thr390Ile)
c.5-7107C>T (n.5-7107C>T)
c.329C>T (p.Thr110Ile)
c.-98-20868C>T (n.-98-20868C>T)
n.4992C>T
n.5033C>T
 ClinVar dbSNP
17g.43071058G>CCA10591812BRCA1c.4853C>G (p.Thr1618Ser)
c.4856C>G (p.Thr1619Ser)
c.4730C>G (p.Thr1577Ser)
c.4850C>G (p.Thr1617Ser)
c.4778C>G (p.Thr1593Ser)
c.1544C>G (p.Thr515Ser)
c.1406C>G (p.Thr469Ser)
c.3968C>G (p.Thr1323Ser)
c.4733C>G (p.Thr1578Ser)
c.4922C>G (p.Thr1641Ser)
c.4715C>G (p.Thr1572Ser)
c.1418C>G (p.Thr473Ser)
c.1463C>G (p.Thr488Ser)
c.4919C>G (p.Thr1640Ser)
c.1243C>G
c.1430C>G (p.Thr477Ser)
c.*4639C>G (n.*4639C>G)
n.9C>G
c.1169C>G (p.Thr390Ser)
c.5-7107C>G (n.5-7107C>G)
c.329C>G (p.Thr110Ser)
c.-98-20868C>G (n.-98-20868C>G)
n.4992C>G
n.5033C>G
 dbSNP
17g.43071058G=CA2260772874BRCA1c.4853C= (p.Thr1618=)
c.4856C= (p.Thr1619=)
c.4730C= (p.Thr1577=)
c.4850C= (p.Thr1617=)
c.4778C= (p.Thr1593=)
c.1544C= (p.Thr515=)
c.1406C= (p.Thr469=)
c.3968C= (p.Thr1323=)
c.4733C= (p.Thr1578=)
c.4922C= (p.Thr1641=)
c.4715C= (p.Thr1572=)
c.1418C= (p.Thr473=)
c.1463C= (p.Thr488=)
c.4919C= (p.Thr1640=)
c.1243C=
c.1430C= (p.Thr477=)
c.*4639C= (n.*4639C=)
n.9C=
c.1169C= (p.Thr390=)
c.5-7107C= (n.5-7107C=)
c.329C= (p.Thr110=)
c.-98-20868C= (n.-98-20868C=)
n.4992C=
n.5033C=
17g.43071058G>TCA10591813BRCA1c.4853C>A (p.Thr1618Asn)
c.4856C>A (p.Thr1619Asn)
c.4730C>A (p.Thr1577Asn)
c.4850C>A (p.Thr1617Asn)
c.4778C>A (p.Thr1593Asn)
c.1544C>A (p.Thr515Asn)
c.1406C>A (p.Thr469Asn)
c.3968C>A (p.Thr1323Asn)
c.4733C>A (p.Thr1578Asn)
c.4922C>A (p.Thr1641Asn)
c.4715C>A (p.Thr1572Asn)
c.1418C>A (p.Thr473Asn)
c.1463C>A (p.Thr488Asn)
c.4919C>A (p.Thr1640Asn)
c.1243C>A
c.1430C>A (p.Thr477Asn)
c.*4639C>A (n.*4639C>A)
n.9C>A
c.1169C>A (p.Thr390Asn)
c.5-7107C>A (n.5-7107C>A)
c.329C>A (p.Thr110Asn)
c.-98-20868C>A (n.-98-20868C>A)
n.4992C>A
n.5033C>A
17g.43071059T>ACA10591814BRCA1c.4852A>T (p.Thr1618Ser)
c.4855A>T (p.Thr1619Ser)
c.4729A>T (p.Thr1577Ser)
c.4849A>T (p.Thr1617Ser)
c.4777A>T (p.Thr1593Ser)
c.1543A>T (p.Thr515Ser)
c.1405A>T (p.Thr469Ser)
c.3967A>T (p.Thr1323Ser)
c.4732A>T (p.Thr1578Ser)
c.4921A>T (p.Thr1641Ser)
c.4714A>T (p.Thr1572Ser)
c.1417A>T (p.Thr473Ser)
c.1462A>T (p.Thr488Ser)
c.4918A>T (p.Thr1640Ser)
c.1242A>T
c.1429A>T (p.Thr477Ser)
c.*4638A>T (n.*4638A>T)
n.8A>T
c.1168A>T (p.Thr390Ser)
c.5-7108A>T (n.5-7108A>T)
c.328A>T (p.Thr110Ser)
c.-98-20869A>T (n.-98-20869A>T)
n.4991A>T
n.5032A>T
 dbSNP COSMIC COSMIC
17g.43071059T>CCA10591815BRCA1c.4852A>G (p.Thr1618Ala)
c.4855A>G (p.Thr1619Ala)
c.4729A>G (p.Thr1577Ala)
c.4849A>G (p.Thr1617Ala)
c.4777A>G (p.Thr1593Ala)
c.1543A>G (p.Thr515Ala)
c.1405A>G (p.Thr469Ala)
c.3967A>G (p.Thr1323Ala)
c.4732A>G (p.Thr1578Ala)
c.4921A>G (p.Thr1641Ala)
c.4714A>G (p.Thr1572Ala)
c.1417A>G (p.Thr473Ala)
c.1462A>G (p.Thr488Ala)
c.4918A>G (p.Thr1640Ala)
c.1242A>G
c.1429A>G (p.Thr477Ala)
c.*4638A>G (n.*4638A>G)
n.8A>G
c.1168A>G (p.Thr390Ala)
c.5-7108A>G (n.5-7108A>G)
c.328A>G (p.Thr110Ala)
c.-98-20869A>G (n.-98-20869A>G)
n.4991A>G
n.5032A>G
 ClinVar dbSNP gnomAD v4
17g.43071059T>GCA10591816BRCA1c.4852A>C (p.Thr1618Pro)
c.4855A>C (p.Thr1619Pro)
c.4729A>C (p.Thr1577Pro)
c.4849A>C (p.Thr1617Pro)
c.4777A>C (p.Thr1593Pro)
c.1543A>C (p.Thr515Pro)
c.1405A>C (p.Thr469Pro)
c.3967A>C (p.Thr1323Pro)
c.4732A>C (p.Thr1578Pro)
c.4921A>C (p.Thr1641Pro)
c.4714A>C (p.Thr1572Pro)
c.1417A>C (p.Thr473Pro)
c.1462A>C (p.Thr488Pro)
c.4918A>C (p.Thr1640Pro)
c.1242A>C
c.1429A>C (p.Thr477Pro)
c.*4638A>C (n.*4638A>C)
n.8A>C
c.1168A>C (p.Thr390Pro)
c.5-7108A>C (n.5-7108A>C)
c.328A>C (p.Thr110Pro)
c.-98-20869A>C (n.-98-20869A>C)
n.4991A>C
n.5032A>C
17g.43071060A=CA2260772875BRCA1c.4851T= (p.His1617=)
c.4854T= (p.His1618=)
c.4728T= (p.His1576=)
c.4848T= (p.His1616=)
c.4776T= (p.His1592=)
c.1542T= (p.His514=)
c.1404T= (p.His468=)
c.3966T= (p.His1322=)
c.4731T= (p.His1577=)
c.4920T= (p.His1640=)
c.4713T= (p.His1571=)
c.1416T= (p.His472=)
c.1461T= (p.His487=)
c.4917T= (p.His1639=)
c.1241T=
c.1428T= (p.His476=)
c.*4637T= (n.*4637T=)
n.7T=
c.1167T= (p.His389=)
c.5-7109T= (n.5-7109T=)
c.327T= (p.His109=)
c.-98-20870T= (n.-98-20870T=)
n.4990T=
n.5031T=
17g.43071060A>CCA10591817BRCA1c.4851T>G (p.His1617Gln)
c.4854T>G (p.His1618Gln)
c.4728T>G (p.His1576Gln)
c.4848T>G (p.His1616Gln)
c.4776T>G (p.His1592Gln)
c.1542T>G (p.His514Gln)
c.1404T>G (p.His468Gln)
c.3966T>G (p.His1322Gln)
c.4731T>G (p.His1577Gln)
c.4920T>G (p.His1640Gln)
c.4713T>G (p.His1571Gln)
c.1416T>G (p.His472Gln)
c.1461T>G (p.His487Gln)
c.4917T>G (p.His1639Gln)
c.1241T>G
c.1428T>G (p.His476Gln)
c.*4637T>G (n.*4637T>G)
n.7T>G
c.1167T>G (p.His389Gln)
c.5-7109T>G (n.5-7109T>G)
c.327T>G (p.His109Gln)
c.-98-20870T>G (n.-98-20870T>G)
n.4990T>G
n.5031T>G
17g.43071060A>GCA053368BRCA1c.4851T>C (p.His1617=)
c.4854T>C (p.His1618=)
c.4728T>C (p.His1576=)
c.4848T>C (p.His1616=)
c.4776T>C (p.His1592=)
c.1542T>C (p.His514=)
c.1404T>C (p.His468=)
c.3966T>C (p.His1322=)
c.4731T>C (p.His1577=)
c.4920T>C (p.His1640=)
c.4713T>C (p.His1571=)
c.1416T>C (p.His472=)
c.1461T>C (p.His487=)
c.4917T>C (p.His1639=)
c.1241T>C
c.1428T>C (p.His476=)
c.*4637T>C (n.*4637T>C)
n.7T>C
c.1167T>C (p.His389=)
c.5-7109T>C (n.5-7109T>C)
c.327T>C (p.His109=)
c.-98-20870T>C (n.-98-20870T>C)
n.4990T>C
n.5031T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43071060A>TCA10591818BRCA1c.4851T>A (p.His1617Gln)
c.4854T>A (p.His1618Gln)
c.4728T>A (p.His1576Gln)
c.4848T>A (p.His1616Gln)
c.4776T>A (p.His1592Gln)
c.1542T>A (p.His514Gln)
c.1404T>A (p.His468Gln)
c.3966T>A (p.His1322Gln)
c.4731T>A (p.His1577Gln)
c.4920T>A (p.His1640Gln)
c.4713T>A (p.His1571Gln)
c.1416T>A (p.His472Gln)
c.1461T>A (p.His487Gln)
c.4917T>A (p.His1639Gln)
c.1241T>A
c.1428T>A (p.His476Gln)
c.*4637T>A (n.*4637T>A)
n.7T>A
c.1167T>A (p.His389Gln)
c.5-7109T>A (n.5-7109T>A)
c.327T>A (p.His109Gln)
c.-98-20870T>A (n.-98-20870T>A)
n.4990T>A
n.5031T>A
 dbSNP gnomAD v4
17g.43071061T>ACA10591819BRCA1c.4850A>T (p.His1617Leu)
c.4853A>T (p.His1618Leu)
c.4727A>T (p.His1576Leu)
c.4847A>T (p.His1616Leu)
c.4775A>T (p.His1592Leu)
c.1541A>T (p.His514Leu)
c.1403A>T (p.His468Leu)
c.3965A>T (p.His1322Leu)
c.4730A>T (p.His1577Leu)
c.4919A>T (p.His1640Leu)
c.4712A>T (p.His1571Leu)
c.1415A>T (p.His472Leu)
c.1460A>T (p.His487Leu)
c.4916A>T (p.His1639Leu)
c.1240A>T
c.1427A>T (p.His476Leu)
c.*4636A>T (n.*4636A>T)
n.6A>T
c.1166A>T (p.His389Leu)
c.5-7110A>T (n.5-7110A>T)
c.326A>T (p.His109Leu)
c.-98-20871A>T (n.-98-20871A>T)
n.4989A>T
n.5030A>T
 dbSNP
17g.43071061T>CCA10591820BRCA1c.4850A>G (p.His1617Arg)
c.4853A>G (p.His1618Arg)
c.4727A>G (p.His1576Arg)
c.4847A>G (p.His1616Arg)
c.4775A>G (p.His1592Arg)
c.1541A>G (p.His514Arg)
c.1403A>G (p.His468Arg)
c.3965A>G (p.His1322Arg)
c.4730A>G (p.His1577Arg)
c.4919A>G (p.His1640Arg)
c.4712A>G (p.His1571Arg)
c.1415A>G (p.His472Arg)
c.1460A>G (p.His487Arg)
c.4916A>G (p.His1639Arg)
c.1240A>G
c.1427A>G (p.His476Arg)
c.*4636A>G (n.*4636A>G)
n.6A>G
c.1166A>G (p.His389Arg)
c.5-7110A>G (n.5-7110A>G)
c.326A>G (p.His109Arg)
c.-98-20871A>G (n.-98-20871A>G)
n.4989A>G
n.5030A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43071061T>GCA10591821BRCA1c.4850A>C (p.His1617Pro)
c.4853A>C (p.His1618Pro)
c.4727A>C (p.His1576Pro)
c.4847A>C (p.His1616Pro)
c.4775A>C (p.His1592Pro)
c.1541A>C (p.His514Pro)
c.1403A>C (p.His468Pro)
c.3965A>C (p.His1322Pro)
c.4730A>C (p.His1577Pro)
c.4919A>C (p.His1640Pro)
c.4712A>C (p.His1571Pro)
c.1415A>C (p.His472Pro)
c.1460A>C (p.His487Pro)
c.4916A>C (p.His1639Pro)
c.1240A>C
c.1427A>C (p.His476Pro)
c.*4636A>C (n.*4636A>C)
n.6A>C
c.1166A>C (p.His389Pro)
c.5-7110A>C (n.5-7110A>C)
c.326A>C (p.His109Pro)
c.-98-20871A>C (n.-98-20871A>C)
n.4989A>C
n.5030A>C
17g.43071061T=CA2260772876BRCA1c.4850A= (p.His1617=)
c.4853A= (p.His1618=)
c.4727A= (p.His1576=)
c.4847A= (p.His1616=)
c.4775A= (p.His1592=)
c.1541A= (p.His514=)
c.1403A= (p.His468=)
c.3965A= (p.His1322=)
c.4730A= (p.His1577=)
c.4919A= (p.His1640=)
c.4712A= (p.His1571=)
c.1415A= (p.His472=)
c.1460A= (p.His487=)
c.4916A= (p.His1639=)
c.1240A=
c.1427A= (p.His476=)
c.*4636A= (n.*4636A=)
n.6A=
c.1166A= (p.His389=)
c.5-7110A= (n.5-7110A=)
c.326A= (p.His109=)
c.-98-20871A= (n.-98-20871A=)
n.4989A=
n.5030A=
17g.43071062G>ACA053358BRCA1c.4849C>T (p.His1617Tyr)
c.4852C>T (p.His1618Tyr)
c.4726C>T (p.His1576Tyr)
c.4846C>T (p.His1616Tyr)
c.4774C>T (p.His1592Tyr)
c.1540C>T (p.His514Tyr)
c.1402C>T (p.His468Tyr)
c.3964C>T (p.His1322Tyr)
c.4729C>T (p.His1577Tyr)
c.4918C>T (p.His1640Tyr)
c.4711C>T (p.His1571Tyr)
c.1414C>T (p.His472Tyr)
c.1459C>T (p.His487Tyr)
c.4915C>T (p.His1639Tyr)
c.1239C>T
c.1426C>T (p.His476Tyr)
c.*4635C>T (n.*4635C>T)
n.5C>T
c.1165C>T (p.His389Tyr)
c.5-7111C>T (n.5-7111C>T)
c.325C>T (p.His109Tyr)
c.-98-20872C>T (n.-98-20872C>T)
n.4988C>T
n.5029C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43071062G>CCA10591822BRCA1c.4849C>G (p.His1617Asp)
c.4852C>G (p.His1618Asp)
c.4726C>G (p.His1576Asp)
c.4846C>G (p.His1616Asp)
c.4774C>G (p.His1592Asp)
c.1540C>G (p.His514Asp)
c.1402C>G (p.His468Asp)
c.3964C>G (p.His1322Asp)
c.4729C>G (p.His1577Asp)
c.4918C>G (p.His1640Asp)
c.4711C>G (p.His1571Asp)
c.1414C>G (p.His472Asp)
c.1459C>G (p.His487Asp)
c.4915C>G (p.His1639Asp)
c.1239C>G
c.1426C>G (p.His476Asp)
c.*4635C>G (n.*4635C>G)
n.5C>G
c.1165C>G (p.His389Asp)
c.5-7111C>G (n.5-7111C>G)
c.325C>G (p.His109Asp)
c.-98-20872C>G (n.-98-20872C>G)
n.4988C>G
n.5029C>G
 dbSNP
17g.43071062G=CA2260772877BRCA1c.4849C= (p.His1617=)
c.4852C= (p.His1618=)
c.4726C= (p.His1576=)
c.4846C= (p.His1616=)
c.4774C= (p.His1592=)
c.1540C= (p.His514=)
c.1402C= (p.His468=)
c.3964C= (p.His1322=)
c.4729C= (p.His1577=)
c.4918C= (p.His1640=)
c.4711C= (p.His1571=)
c.1414C= (p.His472=)
c.1459C= (p.His487=)
c.4915C= (p.His1639=)
c.1239C=
c.1426C= (p.His476=)
c.*4635C= (n.*4635C=)
n.5C=
c.1165C= (p.His389=)
c.5-7111C= (n.5-7111C=)
c.325C= (p.His109=)
c.-98-20872C= (n.-98-20872C=)
n.4988C=
n.5029C=
17g.43071062G>TCA10584552BRCA1c.4849C>A (p.His1617Asn)
c.4852C>A (p.His1618Asn)
c.4726C>A (p.His1576Asn)
c.4846C>A (p.His1616Asn)
c.4774C>A (p.His1592Asn)
c.1540C>A (p.His514Asn)
c.1402C>A (p.His468Asn)
c.3964C>A (p.His1322Asn)
c.4729C>A (p.His1577Asn)
c.4918C>A (p.His1640Asn)
c.4711C>A (p.His1571Asn)
c.1414C>A (p.His472Asn)
c.1459C>A (p.His487Asn)
c.4915C>A (p.His1639Asn)
c.1239C>A
c.1426C>A (p.His476Asn)
c.*4635C>A (n.*4635C>A)
n.5C>A
c.1165C>A (p.His389Asn)
c.5-7111C>A (n.5-7111C>A)
c.325C>A (p.His109Asn)
c.-98-20872C>A (n.-98-20872C>A)
n.4988C>A
n.5029C>A
 ClinVar dbSNP
17g.43071063A=CA2260772878BRCA1c.4848T= (p.Ala1616=)
c.4851T= (p.Ala1617=)
c.4725T= (p.Ala1575=)
c.4845T= (p.Ala1615=)
c.4773T= (p.Ala1591=)
c.1539T= (p.Ala513=)
c.1401T= (p.Ala467=)
c.3963T= (p.Ala1321=)
c.4728T= (p.Ala1576=)
c.4917T= (p.Ala1639=)
c.4710T= (p.Ala1570=)
c.1413T= (p.Ala471=)
c.1458T= (p.Ala486=)
c.4914T= (p.Ala1638=)
c.1238T=
c.1425T= (p.Ala475=)
c.*4634T= (n.*4634T=)
n.4T=
c.1164T= (p.Ala388=)
c.5-7112T= (n.5-7112T=)
c.324T= (p.Ala108=)
c.-98-20873T= (n.-98-20873T=)
n.4987T=
n.5028T=
17g.43071063A>CCA500231793BRCA1c.4848T>G (p.Ala1616=)
c.4851T>G (p.Ala1617=)
c.4725T>G (p.Ala1575=)
c.4845T>G (p.Ala1615=)
c.4773T>G (p.Ala1591=)
c.1539T>G (p.Ala513=)
c.1401T>G (p.Ala467=)
c.3963T>G (p.Ala1321=)
c.4728T>G (p.Ala1576=)
c.4917T>G (p.Ala1639=)
c.4710T>G (p.Ala1570=)
c.1413T>G (p.Ala471=)
c.1458T>G (p.Ala486=)
c.4914T>G (p.Ala1638=)
c.1238T>G
c.1425T>G (p.Ala475=)
c.*4634T>G (n.*4634T>G)
n.4T>G
c.1164T>G (p.Ala388=)
c.5-7112T>G (n.5-7112T>G)
c.324T>G (p.Ala108=)
c.-98-20873T>G (n.-98-20873T>G)
n.4987T>G
n.5028T>G
17g.43071063A>GCA003053BRCA1c.4848T>C (p.Ala1616=)
c.4851T>C (p.Ala1617=)
c.4725T>C (p.Ala1575=)
c.4845T>C (p.Ala1615=)
c.4773T>C (p.Ala1591=)
c.1539T>C (p.Ala513=)
c.1401T>C (p.Ala467=)
c.3963T>C (p.Ala1321=)
c.4728T>C (p.Ala1576=)
c.4917T>C (p.Ala1639=)
c.4710T>C (p.Ala1570=)
c.1413T>C (p.Ala471=)
c.1458T>C (p.Ala486=)
c.4914T>C (p.Ala1638=)
c.1238T>C
c.1425T>C (p.Ala475=)
c.*4634T>C (n.*4634T>C)
n.4T>C
c.1164T>C (p.Ala388=)
c.5-7112T>C (n.5-7112T>C)
c.324T>C (p.Ala108=)
c.-98-20873T>C (n.-98-20873T>C)
n.4987T>C
n.5028T>C
 ClinVar dbSNP gnomAD v4
17g.43071063A>TCA500231794BRCA1c.4848T>A (p.Ala1616=)
c.4851T>A (p.Ala1617=)
c.4725T>A (p.Ala1575=)
c.4845T>A (p.Ala1615=)
c.4773T>A (p.Ala1591=)
c.1539T>A (p.Ala513=)
c.1401T>A (p.Ala467=)
c.3963T>A (p.Ala1321=)
c.4728T>A (p.Ala1576=)
c.4917T>A (p.Ala1639=)
c.4710T>A (p.Ala1570=)
c.1413T>A (p.Ala471=)
c.1458T>A (p.Ala486=)
c.4914T>A (p.Ala1638=)
c.1238T>A
c.1425T>A (p.Ala475=)
c.*4634T>A (n.*4634T>A)
n.4T>A
c.1164T>A (p.Ala388=)
c.5-7112T>A (n.5-7112T>A)
c.324T>A (p.Ala108=)
c.-98-20873T>A (n.-98-20873T>A)
n.4987T>A
n.5028T>A
 dbSNP
17g.43071064G>ACA10591823BRCA1c.4847C>T (p.Ala1616Val)
c.4850C>T (p.Ala1617Val)
c.4724C>T (p.Ala1575Val)
c.4844C>T (p.Ala1615Val)
c.4772C>T (p.Ala1591Val)
c.1538C>T (p.Ala513Val)
c.1400C>T (p.Ala467Val)
c.3962C>T (p.Ala1321Val)
c.4727C>T (p.Ala1576Val)
c.4916C>T (p.Ala1639Val)
c.4709C>T (p.Ala1570Val)
c.1412C>T (p.Ala471Val)
c.1457C>T (p.Ala486Val)
c.4913C>T (p.Ala1638Val)
c.1237C>T
c.1424C>T (p.Ala475Val)
c.*4633C>T (n.*4633C>T)
n.3C>T
c.1163C>T (p.Ala388Val)
c.5-7113C>T (n.5-7113C>T)
c.323C>T (p.Ala108Val)
c.-98-20874C>T (n.-98-20874C>T)
n.4986C>T
n.5027C>T
 ClinVar dbSNP
17g.43071064G>CCA10591824BRCA1c.4847C>G (p.Ala1616Gly)
c.4850C>G (p.Ala1617Gly)
c.4724C>G (p.Ala1575Gly)
c.4844C>G (p.Ala1615Gly)
c.4772C>G (p.Ala1591Gly)
c.1538C>G (p.Ala513Gly)
c.1400C>G (p.Ala467Gly)
c.3962C>G (p.Ala1321Gly)
c.4727C>G (p.Ala1576Gly)
c.4916C>G (p.Ala1639Gly)
c.4709C>G (p.Ala1570Gly)
c.1412C>G (p.Ala471Gly)
c.1457C>G (p.Ala486Gly)
c.4913C>G (p.Ala1638Gly)
c.1237C>G
c.1424C>G (p.Ala475Gly)
c.*4633C>G (n.*4633C>G)
n.3C>G
c.1163C>G (p.Ala388Gly)
c.5-7113C>G (n.5-7113C>G)
c.323C>G (p.Ala108Gly)
c.-98-20874C>G (n.-98-20874C>G)
n.4986C>G
n.5027C>G
 dbSNP
17g.43071064G=CA2260772879BRCA1c.4847C= (p.Ala1616=)
c.4850C= (p.Ala1617=)
c.4724C= (p.Ala1575=)
c.4844C= (p.Ala1615=)
c.4772C= (p.Ala1591=)
c.1538C= (p.Ala513=)
c.1400C= (p.Ala467=)
c.3962C= (p.Ala1321=)
c.4727C= (p.Ala1576=)
c.4916C= (p.Ala1639=)
c.4709C= (p.Ala1570=)
c.1412C= (p.Ala471=)
c.1457C= (p.Ala486=)
c.4913C= (p.Ala1638=)
c.1237C=
c.1424C= (p.Ala475=)
c.*4633C= (n.*4633C=)
n.3C=
c.1163C= (p.Ala388=)
c.5-7113C= (n.5-7113C=)
c.323C= (p.Ala108=)
c.-98-20874C= (n.-98-20874C=)
n.4986C=
n.5027C=
17g.43071064G>TCA10591825BRCA1c.4847C>A (p.Ala1616Asp)
c.4850C>A (p.Ala1617Asp)
c.4724C>A (p.Ala1575Asp)
c.4844C>A (p.Ala1615Asp)
c.4772C>A (p.Ala1591Asp)
c.1538C>A (p.Ala513Asp)
c.1400C>A (p.Ala467Asp)
c.3962C>A (p.Ala1321Asp)
c.4727C>A (p.Ala1576Asp)
c.4916C>A (p.Ala1639Asp)
c.4709C>A (p.Ala1570Asp)
c.1412C>A (p.Ala471Asp)
c.1457C>A (p.Ala486Asp)
c.4913C>A (p.Ala1638Asp)
c.1237C>A
c.1424C>A (p.Ala475Asp)
c.*4633C>A (n.*4633C>A)
n.3C>A
c.1163C>A (p.Ala388Asp)
c.5-7113C>A (n.5-7113C>A)
c.323C>A (p.Ala108Asp)
c.-98-20874C>A (n.-98-20874C>A)
n.4986C>A
n.5027C>A
 dbSNP
17g.43071065C>ACA10591826BRCA1c.4846G>T (p.Ala1616Ser)
c.4849G>T (p.Ala1617Ser)
c.4723G>T (p.Ala1575Ser)
c.4843G>T (p.Ala1615Ser)
c.4771G>T (p.Ala1591Ser)
c.1537G>T (p.Ala513Ser)
c.1399G>T (p.Ala467Ser)
c.3961G>T (p.Ala1321Ser)
c.4726G>T (p.Ala1576Ser)
c.4915G>T (p.Ala1639Ser)
c.4708G>T (p.Ala1570Ser)
c.1411G>T (p.Ala471Ser)
c.1456G>T (p.Ala486Ser)
c.4912G>T (p.Ala1638Ser)
c.1236G>T
c.1423G>T (p.Ala475Ser)
c.*4632G>T (n.*4632G>T)
n.2G>T
c.1162G>T (p.Ala388Ser)
c.5-7114G>T (n.5-7114G>T)
c.322G>T (p.Ala108Ser)
c.-98-20875G>T (n.-98-20875G>T)
n.4985G>T
n.5026G>T
 ClinVar dbSNP
17g.43071065C>GCA10591827BRCA1c.4846G>C (p.Ala1616Pro)
c.4849G>C (p.Ala1617Pro)
c.4723G>C (p.Ala1575Pro)
c.4843G>C (p.Ala1615Pro)
c.4771G>C (p.Ala1591Pro)
c.1537G>C (p.Ala513Pro)
c.1399G>C (p.Ala467Pro)
c.3961G>C (p.Ala1321Pro)
c.4726G>C (p.Ala1576Pro)
c.4915G>C (p.Ala1639Pro)
c.4708G>C (p.Ala1570Pro)
c.1411G>C (p.Ala471Pro)
c.1456G>C (p.Ala486Pro)
c.4912G>C (p.Ala1638Pro)
c.1236G>C
c.1423G>C (p.Ala475Pro)
c.*4632G>C (n.*4632G>C)
n.2G>C
c.1162G>C (p.Ala388Pro)
c.5-7114G>C (n.5-7114G>C)
c.322G>C (p.Ala108Pro)
c.-98-20875G>C (n.-98-20875G>C)
n.4985G>C
n.5026G>C
 dbSNP
17g.43071065C>TCA10591828BRCA1c.4846G>A (p.Ala1616Thr)
c.4849G>A (p.Ala1617Thr)
c.4723G>A (p.Ala1575Thr)
c.4843G>A (p.Ala1615Thr)
c.4771G>A (p.Ala1591Thr)
c.1537G>A (p.Ala513Thr)
c.1399G>A (p.Ala467Thr)
c.3961G>A (p.Ala1321Thr)
c.4726G>A (p.Ala1576Thr)
c.4915G>A (p.Ala1639Thr)
c.4708G>A (p.Ala1570Thr)
c.1411G>A (p.Ala471Thr)
c.1456G>A (p.Ala486Thr)
c.4912G>A (p.Ala1638Thr)
c.1236G>A
c.1423G>A (p.Ala475Thr)
c.*4632G>A (n.*4632G>A)
n.2G>A
c.1162G>A (p.Ala388Thr)
c.5-7114G>A (n.5-7114G>A)
c.322G>A (p.Ala108Thr)
c.-98-20875G>A (n.-98-20875G>A)
n.4985G>A
n.5026G>A
 ClinVar dbSNP
17g.43071066A=CA2260772880BRCA1c.4845T= (p.Ala1615=)
c.4848T= (p.Ala1616=)
c.4722T= (p.Ala1574=)
c.4842T= (p.Ala1614=)
c.4770T= (p.Ala1590=)
c.1536T= (p.Ala512=)
c.1398T= (p.Ala466=)
c.3960T= (p.Ala1320=)
c.4725T= (p.Ala1575=)
c.4914T= (p.Ala1638=)
c.4707T= (p.Ala1569=)
c.1410T= (p.Ala470=)
c.1455T= (p.Ala485=)
c.4911T= (p.Ala1637=)
c.1235T=
c.1422T= (p.Ala474=)
c.*4631T= (n.*4631T=)
n.1T=
c.1161T= (p.Ala387=)
c.5-7115T= (n.5-7115T=)
c.321T= (p.Ala107=)
c.-98-20876T= (n.-98-20876T=)
n.4984T=
n.5025T=
17g.43071066A>CCA500231800BRCA1c.4845T>G (p.Ala1615=)
c.4848T>G (p.Ala1616=)
c.4722T>G (p.Ala1574=)
c.4842T>G (p.Ala1614=)
c.4770T>G (p.Ala1590=)
c.1536T>G (p.Ala512=)
c.1398T>G (p.Ala466=)
c.3960T>G (p.Ala1320=)
c.4725T>G (p.Ala1575=)
c.4914T>G (p.Ala1638=)
c.4707T>G (p.Ala1569=)
c.1410T>G (p.Ala470=)
c.1455T>G (p.Ala485=)
c.4911T>G (p.Ala1637=)
c.1235T>G
c.1422T>G (p.Ala474=)
c.*4631T>G (n.*4631T>G)
n.1T>G
c.1161T>G (p.Ala387=)
c.5-7115T>G (n.5-7115T>G)
c.321T>G (p.Ala107=)
c.-98-20876T>G (n.-98-20876T>G)
n.4984T>G
n.5025T>G
17g.43071066A>GCA500231798BRCA1c.4845T>C (p.Ala1615=)
c.4848T>C (p.Ala1616=)
c.4722T>C (p.Ala1574=)
c.4842T>C (p.Ala1614=)
c.4770T>C (p.Ala1590=)
c.1536T>C (p.Ala512=)
c.1398T>C (p.Ala466=)
c.3960T>C (p.Ala1320=)
c.4725T>C (p.Ala1575=)
c.4914T>C (p.Ala1638=)
c.4707T>C (p.Ala1569=)
c.1410T>C (p.Ala470=)
c.1455T>C (p.Ala485=)
c.4911T>C (p.Ala1637=)
c.1235T>C
c.1422T>C (p.Ala474=)
c.*4631T>C (n.*4631T>C)
n.1T>C
c.1161T>C (p.Ala387=)
c.5-7115T>C (n.5-7115T>C)
c.321T>C (p.Ala107=)
c.-98-20876T>C (n.-98-20876T>C)
n.4984T>C
n.5025T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43071066A>TCA500231799BRCA1c.4845T>A (p.Ala1615=)
c.4848T>A (p.Ala1616=)
c.4722T>A (p.Ala1574=)
c.4842T>A (p.Ala1614=)
c.4770T>A (p.Ala1590=)
c.1536T>A (p.Ala512=)
c.1398T>A (p.Ala466=)
c.3960T>A (p.Ala1320=)
c.4725T>A (p.Ala1575=)
c.4914T>A (p.Ala1638=)
c.4707T>A (p.Ala1569=)
c.1410T>A (p.Ala470=)
c.1455T>A (p.Ala485=)
c.4911T>A (p.Ala1637=)
c.1235T>A
c.1422T>A (p.Ala474=)
c.*4631T>A (n.*4631T>A)
n.1T>A
c.1161T>A (p.Ala387=)
c.5-7115T>A (n.5-7115T>A)
c.321T>A (p.Ala107=)
c.-98-20876T>A (n.-98-20876T>A)
n.4984T>A
n.5025T>A
 dbSNP
17g.43071066_43071081delinsAGCAGCTGGACTCTGGCA2260772881BRCA1c.4830_4845delinsCCAGAGTCCAGCTGCT (p.Ala1610=)
c.4833_4848delinsCCAGAGTCCAGCTGCT (p.Ala1611=)
c.4707_4722delinsCCAGAGTCCAGCTGCT (p.Ala1569=)
c.4827_4842delinsCCAGAGTCCAGCTGCT (p.Ala1609=)
c.4755_4770delinsCCAGAGTCCAGCTGCT (p.Ala1585=)
c.1521_1536delinsCCAGAGTCCAGCTGCT (p.Ala507=)
c.1383_1398delinsCCAGAGTCCAGCTGCT (p.Ala461=)
c.3945_3960delinsCCAGAGTCCAGCTGCT (p.Ala1315=)
c.4710_4725delinsCCAGAGTCCAGCTGCT (p.Ala1570=)
c.4899_4914delinsCCAGAGTCCAGCTGCT (p.Ala1633=)
c.4692_4707delinsCCAGAGTCCAGCTGCT (p.Ala1564=)
c.1395_1410delinsCCAGAGTCCAGCTGCT (p.Ala465=)
c.1440_1455delinsCCAGAGTCCAGCTGCT (p.Ala480=)
c.4896_4911delinsCCAGAGTCCAGCTGCT (p.Ala1632=)
c.1220_1235delinsCCAGAGTCCAGCTGCT
c.1407_1422delinsCCAGAGTCCAGCTGCT (p.Ala469=)
c.*4616_*4631delinsCCAGAGTCCAGCTGCT (n.*4616_*4631delinsCCAGAGTCCAGCTGCT)
c.1146_1161delinsCCAGAGTCCAGCTGCT (p.Ala382=)
c.5-7130_5-7115delinsCCAGAGTCCAGCTGCT (n.5-7130_5-7115delinsCCAGAGTCCAGCTGCT)
c.306_321delinsCCAGAGTCCAGCTGCT (p.Ala102=)
c.-98-20891_-98-20876delinsCCAGAGTCCAGCTGCT (n.-98-20891_-98-20876delinsCCAGAGTCCAGCTGCT)
n.4969_4984delinsCCAGAGTCCAGCTGCT
n.5010_5025delinsCCAGAGTCCAGCTGCT
17g.43071067G>ACA10591829BRCA1c.4844C>T (p.Ala1615Val)
c.4847C>T (p.Ala1616Val)
c.4721C>T (p.Ala1574Val)
c.4841C>T (p.Ala1614Val)
c.4769C>T (p.Ala1590Val)
c.1535C>T (p.Ala512Val)
c.1397C>T (p.Ala466Val)
c.3959C>T (p.Ala1320Val)
c.4724C>T (p.Ala1575Val)
c.4913C>T (p.Ala1638Val)
c.4706C>T (p.Ala1569Val)
c.1409C>T (p.Ala470Val)
c.1454C>T (p.Ala485Val)
c.4910C>T (p.Ala1637Val)
c.1234C>T
c.1421C>T (p.Ala474Val)
c.*4630C>T (n.*4630C>T)
c.1160C>T (p.Ala387Val)
c.5-7116C>T (n.5-7116C>T)
c.320C>T (p.Ala107Val)
c.-98-20877C>T (n.-98-20877C>T)
n.4983C>T
n.5024C>T
 ClinVar dbSNP gnomAD v4
17g.43071067G>CCA10591830BRCA1c.4844C>G (p.Ala1615Gly)
c.4847C>G (p.Ala1616Gly)
c.4721C>G (p.Ala1574Gly)
c.4841C>G (p.Ala1614Gly)
c.4769C>G (p.Ala1590Gly)
c.1535C>G (p.Ala512Gly)
c.1397C>G (p.Ala466Gly)
c.3959C>G (p.Ala1320Gly)
c.4724C>G (p.Ala1575Gly)
c.4913C>G (p.Ala1638Gly)
c.4706C>G (p.Ala1569Gly)
c.1409C>G (p.Ala470Gly)
c.1454C>G (p.Ala485Gly)
c.4910C>G (p.Ala1637Gly)
c.1234C>G
c.1421C>G (p.Ala474Gly)
c.*4630C>G (n.*4630C>G)
c.1160C>G (p.Ala387Gly)
c.5-7116C>G (n.5-7116C>G)
c.320C>G (p.Ala107Gly)
c.-98-20877C>G (n.-98-20877C>G)
n.4983C>G
n.5024C>G
 dbSNP
17g.43071067G=CA2260772882BRCA1c.4844C= (p.Ala1615=)
c.4847C= (p.Ala1616=)
c.4721C= (p.Ala1574=)
c.4841C= (p.Ala1614=)
c.4769C= (p.Ala1590=)
c.1535C= (p.Ala512=)
c.1397C= (p.Ala466=)
c.3959C= (p.Ala1320=)
c.4724C= (p.Ala1575=)
c.4913C= (p.Ala1638=)
c.4706C= (p.Ala1569=)
c.1409C= (p.Ala470=)
c.1454C= (p.Ala485=)
c.4910C= (p.Ala1637=)
c.1234C=
c.1421C= (p.Ala474=)
c.*4630C= (n.*4630C=)
c.1160C= (p.Ala387=)
c.5-7116C= (n.5-7116C=)
c.320C= (p.Ala107=)
c.-98-20877C= (n.-98-20877C=)
n.4983C=
n.5024C=
17g.43071067G>TCA10591831BRCA1c.4844C>A (p.Ala1615Asp)
c.4847C>A (p.Ala1616Asp)
c.4721C>A (p.Ala1574Asp)
c.4841C>A (p.Ala1614Asp)
c.4769C>A (p.Ala1590Asp)
c.1535C>A (p.Ala512Asp)
c.1397C>A (p.Ala466Asp)
c.3959C>A (p.Ala1320Asp)
c.4724C>A (p.Ala1575Asp)
c.4913C>A (p.Ala1638Asp)
c.4706C>A (p.Ala1569Asp)
c.1409C>A (p.Ala470Asp)
c.1454C>A (p.Ala485Asp)
c.4910C>A (p.Ala1637Asp)
c.1234C>A
c.1421C>A (p.Ala474Asp)
c.*4630C>A (n.*4630C>A)
c.1160C>A (p.Ala387Asp)
c.5-7116C>A (n.5-7116C>A)
c.320C>A (p.Ala107Asp)
c.-98-20877C>A (n.-98-20877C>A)
n.4983C>A
n.5024C>A
17g.43071071_43071085delCA658825004BRCA1c.4830_4844del (p.Gln1611_Ala1615del)
c.4833_4847del (p.Gln1612_Ala1616del)
c.4707_4721del (p.Gln1570_Ala1574del)
c.4827_4841del (p.Gln1610_Ala1614del)
c.4755_4769del (p.Gln1586_Ala1590del)
c.1521_1535del (p.Gln508_Ala512del)
c.1383_1397del (p.Gln462_Ala466del)
c.3945_3959del (p.Gln1316_Ala1320del)
c.4710_4724del (p.Gln1571_Ala1575del)
c.4899_4913del (p.Gln1634_Ala1638del)
c.4692_4706del (p.Gln1565_Ala1569del)
c.1395_1409del (p.Gln466_Ala470del)
c.1440_1454del (p.Gln481_Ala485del)
c.4896_4910del (p.Gln1633_Ala1637del)
c.1220_1234del
c.1407_1421del (p.Gln470_Ala474del)
c.*4616_*4630del (n.*4616_*4630del)
c.1146_1160del (p.Gln383_Ala387del)
c.5-7130_5-7116del (n.5-7130_5-7116del)
c.306_320del (p.Gln103_Ala107del)
c.-98-20891_-98-20877del (n.-98-20891_-98-20877del)
n.4969_4983del
n.5010_5024del
 ClinVar dbSNP
17g.43071068C>ACA10591832BRCA1c.4843G>T (p.Ala1615Ser)
c.4846G>T (p.Ala1616Ser)
c.4720G>T (p.Ala1574Ser)
c.4840G>T (p.Ala1614Ser)
c.4768G>T (p.Ala1590Ser)
c.1534G>T (p.Ala512Ser)
c.1396G>T (p.Ala466Ser)
c.3958G>T (p.Ala1320Ser)
c.4723G>T (p.Ala1575Ser)
c.4912G>T (p.Ala1638Ser)
c.4705G>T (p.Ala1569Ser)
c.1408G>T (p.Ala470Ser)
c.1453G>T (p.Ala485Ser)
c.4909G>T (p.Ala1637Ser)
c.1233G>T
c.1420G>T (p.Ala474Ser)
c.*4629G>T (n.*4629G>T)
c.1159G>T (p.Ala387Ser)
c.5-7117G>T (n.5-7117G>T)
c.319G>T (p.Ala107Ser)
c.-98-20878G>T (n.-98-20878G>T)
n.4982G>T
n.5023G>T
 dbSNP
17g.43071068C=CA2260772883BRCA1c.4843G= (p.Ala1615=)
c.4846G= (p.Ala1616=)
c.4720G= (p.Ala1574=)
c.4840G= (p.Ala1614=)
c.4768G= (p.Ala1590=)
c.1534G= (p.Ala512=)
c.1396G= (p.Ala466=)
c.3958G= (p.Ala1320=)
c.4723G= (p.Ala1575=)
c.4912G= (p.Ala1638=)
c.4705G= (p.Ala1569=)
c.1408G= (p.Ala470=)
c.1453G= (p.Ala485=)
c.4909G= (p.Ala1637=)
c.1233G=
c.1420G= (p.Ala474=)
c.*4629G= (n.*4629G=)
c.1159G= (p.Ala387=)
c.5-7117G= (n.5-7117G=)
c.319G= (p.Ala107=)
c.-98-20878G= (n.-98-20878G=)
n.4982G=
n.5023G=
17g.43071068C>GCA10591833BRCA1c.4843G>C (p.Ala1615Pro)
c.4846G>C (p.Ala1616Pro)
c.4720G>C (p.Ala1574Pro)
c.4840G>C (p.Ala1614Pro)
c.4768G>C (p.Ala1590Pro)
c.1534G>C (p.Ala512Pro)
c.1396G>C (p.Ala466Pro)
c.3958G>C (p.Ala1320Pro)
c.4723G>C (p.Ala1575Pro)
c.4912G>C (p.Ala1638Pro)
c.4705G>C (p.Ala1569Pro)
c.1408G>C (p.Ala470Pro)
c.1453G>C (p.Ala485Pro)
c.4909G>C (p.Ala1637Pro)
c.1233G>C
c.1420G>C (p.Ala474Pro)
c.*4629G>C (n.*4629G>C)
c.1159G>C (p.Ala387Pro)
c.5-7117G>C (n.5-7117G>C)
c.319G>C (p.Ala107Pro)
c.-98-20878G>C (n.-98-20878G>C)
n.4982G>C
n.5023G>C
 ClinVar dbSNP
17g.43071068C>TCA10591834BRCA1c.4843G>A (p.Ala1615Thr)
c.4846G>A (p.Ala1616Thr)
c.4720G>A (p.Ala1574Thr)
c.4840G>A (p.Ala1614Thr)
c.4768G>A (p.Ala1590Thr)
c.1534G>A (p.Ala512Thr)
c.1396G>A (p.Ala466Thr)
c.3958G>A (p.Ala1320Thr)
c.4723G>A (p.Ala1575Thr)
c.4912G>A (p.Ala1638Thr)
c.4705G>A (p.Ala1569Thr)
c.1408G>A (p.Ala470Thr)
c.1453G>A (p.Ala485Thr)
c.4909G>A (p.Ala1637Thr)
c.1233G>A
c.1420G>A (p.Ala474Thr)
c.*4629G>A (n.*4629G>A)
c.1159G>A (p.Ala387Thr)
c.5-7117G>A (n.5-7117G>A)
c.319G>A (p.Ala107Thr)
c.-98-20878G>A (n.-98-20878G>A)
n.4982G>A
n.5023G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43071069A=CA2260772884BRCA1c.4842T= (p.Ala1614=)
c.4845T= (p.Ala1615=)
c.4719T= (p.Ala1573=)
c.4839T= (p.Ala1613=)
c.4767T= (p.Ala1589=)
c.1533T= (p.Ala511=)
c.1395T= (p.Ala465=)
c.3957T= (p.Ala1319=)
c.4722T= (p.Ala1574=)
c.4911T= (p.Ala1637=)
c.4704T= (p.Ala1568=)
c.1407T= (p.Ala469=)
c.1452T= (p.Ala484=)
c.4908T= (p.Ala1636=)
c.1232T=
c.1419T= (p.Ala473=)
c.*4628T= (n.*4628T=)
c.1158T= (p.Ala386=)
c.5-7118T= (n.5-7118T=)
c.318T= (p.Ala106=)
c.-98-20879T= (n.-98-20879T=)
n.4981T=
n.5022T=
17g.43071069A>CCA500231802BRCA1c.4842T>G (p.Ala1614=)
c.4845T>G (p.Ala1615=)
c.4719T>G (p.Ala1573=)
c.4839T>G (p.Ala1613=)
c.4767T>G (p.Ala1589=)
c.1533T>G (p.Ala511=)
c.1395T>G (p.Ala465=)
c.3957T>G (p.Ala1319=)
c.4722T>G (p.Ala1574=)
c.4911T>G (p.Ala1637=)
c.4704T>G (p.Ala1568=)
c.1407T>G (p.Ala469=)
c.1452T>G (p.Ala484=)
c.4908T>G (p.Ala1636=)
c.1232T>G
c.1419T>G (p.Ala473=)
c.*4628T>G (n.*4628T>G)
c.1158T>G (p.Ala386=)
c.5-7118T>G (n.5-7118T>G)
c.318T>G (p.Ala106=)
c.-98-20879T>G (n.-98-20879T>G)
n.4981T>G
n.5022T>G
17g.43071069A>GCA003051BRCA1c.4842T>C (p.Ala1614=)
c.4845T>C (p.Ala1615=)
c.4719T>C (p.Ala1573=)
c.4839T>C (p.Ala1613=)
c.4767T>C (p.Ala1589=)
c.1533T>C (p.Ala511=)
c.1395T>C (p.Ala465=)
c.3957T>C (p.Ala1319=)
c.4722T>C (p.Ala1574=)
c.4911T>C (p.Ala1637=)
c.4704T>C (p.Ala1568=)
c.1407T>C (p.Ala469=)
c.1452T>C (p.Ala484=)
c.4908T>C (p.Ala1636=)
c.1232T>C
c.1419T>C (p.Ala473=)
c.*4628T>C (n.*4628T>C)
c.1158T>C (p.Ala386=)
c.5-7118T>C (n.5-7118T>C)
c.318T>C (p.Ala106=)
c.-98-20879T>C (n.-98-20879T>C)
n.4981T>C
n.5022T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43071069A>TCA500231803BRCA1c.4842T>A (p.Ala1614=)
c.4845T>A (p.Ala1615=)
c.4719T>A (p.Ala1573=)
c.4839T>A (p.Ala1613=)
c.4767T>A (p.Ala1589=)
c.1533T>A (p.Ala511=)
c.1395T>A (p.Ala465=)
c.3957T>A (p.Ala1319=)
c.4722T>A (p.Ala1574=)
c.4911T>A (p.Ala1637=)
c.4704T>A (p.Ala1568=)
c.1407T>A (p.Ala469=)
c.1452T>A (p.Ala484=)
c.4908T>A (p.Ala1636=)
c.1232T>A
c.1419T>A (p.Ala473=)
c.*4628T>A (n.*4628T>A)
c.1158T>A (p.Ala386=)
c.5-7118T>A (n.5-7118T>A)
c.318T>A (p.Ala106=)
c.-98-20879T>A (n.-98-20879T>A)
n.4981T>A
n.5022T>A
 dbSNP
17g.43071069_43071072dupCA2580094020BRCA1c.4839_4842dup (p.Ala1615SerfsTer7)
c.4842_4845dup (p.Ala1616SerfsTer7)
c.4716_4719dup (p.Ala1574SerfsTer7)
c.4836_4839dup (p.Ala1614SerfsTer7)
c.4764_4767dup (p.Ala1590SerfsTer7)
c.1530_1533dup (p.Ala512SerfsTer7)
c.1392_1395dup (p.Ala466SerfsTer7)
c.3954_3957dup (p.Ala1320SerfsTer7)
c.4719_4722dup (p.Ala1575SerfsTer7)
c.4908_4911dup (p.Ala1638SerfsTer7)
c.4701_4704dup (p.Ala1569SerfsTer7)
c.1404_1407dup (p.Ala470SerfsTer7)
c.1449_1452dup (p.Ala485SerfsTer7)
c.4905_4908dup (p.Ala1637SerfsTer7)
c.1229_1232dup
c.1416_1419dup (p.Ala474SerfsTer7)
c.*4625_*4628dup (n.*4625_*4628dup)
c.1155_1158dup (p.Ala387SerfsTer7)
c.5-7121_5-7118dup (n.5-7121_5-7118dup)
c.315_318dup (p.Ala107SerfsTer7)
c.-98-20882_-98-20879dup (n.-98-20882_-98-20879dup)
n.4978_4981dup
n.5019_5022dup
 ClinVar
17g.43071070G>ACA10591835BRCA1c.4841C>T (p.Ala1614Val)
c.4844C>T (p.Ala1615Val)
c.4718C>T (p.Ala1573Val)
c.4838C>T (p.Ala1613Val)
c.4766C>T (p.Ala1589Val)
c.1532C>T (p.Ala511Val)
c.1394C>T (p.Ala465Val)
c.3956C>T (p.Ala1319Val)
c.4721C>T (p.Ala1574Val)
c.4910C>T (p.Ala1637Val)
c.4703C>T (p.Ala1568Val)
c.1406C>T (p.Ala469Val)
c.1451C>T (p.Ala484Val)
c.4907C>T (p.Ala1636Val)
c.1231C>T
c.1418C>T (p.Ala473Val)
c.*4627C>T (n.*4627C>T)
c.1157C>T (p.Ala386Val)
c.5-7119C>T (n.5-7119C>T)
c.317C>T (p.Ala106Val)
c.-98-20880C>T (n.-98-20880C>T)
n.4980C>T
n.5021C>T
 ClinVar dbSNP
17g.43071070G>CCA10591836BRCA1c.4841C>G (p.Ala1614Gly)
c.4844C>G (p.Ala1615Gly)
c.4718C>G (p.Ala1573Gly)
c.4838C>G (p.Ala1613Gly)
c.4766C>G (p.Ala1589Gly)
c.1532C>G (p.Ala511Gly)
c.1394C>G (p.Ala465Gly)
c.3956C>G (p.Ala1319Gly)
c.4721C>G (p.Ala1574Gly)
c.4910C>G (p.Ala1637Gly)
c.4703C>G (p.Ala1568Gly)
c.1406C>G (p.Ala469Gly)
c.1451C>G (p.Ala484Gly)
c.4907C>G (p.Ala1636Gly)
c.1231C>G
c.1418C>G (p.Ala473Gly)
c.*4627C>G (n.*4627C>G)
c.1157C>G (p.Ala386Gly)
c.5-7119C>G (n.5-7119C>G)
c.317C>G (p.Ala106Gly)
c.-98-20880C>G (n.-98-20880C>G)
n.4980C>G
n.5021C>G
 ClinVar dbSNP
17g.43071070G=CA2260772885BRCA1c.4841C= (p.Ala1614=)
c.4844C= (p.Ala1615=)
c.4718C= (p.Ala1573=)
c.4838C= (p.Ala1613=)
c.4766C= (p.Ala1589=)
c.1532C= (p.Ala511=)
c.1394C= (p.Ala465=)
c.3956C= (p.Ala1319=)
c.4721C= (p.Ala1574=)
c.4910C= (p.Ala1637=)
c.4703C= (p.Ala1568=)
c.1406C= (p.Ala469=)
c.1451C= (p.Ala484=)
c.4907C= (p.Ala1636=)
c.1231C=
c.1418C= (p.Ala473=)
c.*4627C= (n.*4627C=)
c.1157C= (p.Ala386=)
c.5-7119C= (n.5-7119C=)
c.317C= (p.Ala106=)
c.-98-20880C= (n.-98-20880C=)
n.4980C=
n.5021C=
17g.43071070G>TCA10591837BRCA1c.4841C>A (p.Ala1614Asp)
c.4844C>A (p.Ala1615Asp)
c.4718C>A (p.Ala1573Asp)
c.4838C>A (p.Ala1613Asp)
c.4766C>A (p.Ala1589Asp)
c.1532C>A (p.Ala511Asp)
c.1394C>A (p.Ala465Asp)
c.3956C>A (p.Ala1319Asp)
c.4721C>A (p.Ala1574Asp)
c.4910C>A (p.Ala1637Asp)
c.4703C>A (p.Ala1568Asp)
c.1406C>A (p.Ala469Asp)
c.1451C>A (p.Ala484Asp)
c.4907C>A (p.Ala1636Asp)
c.1231C>A
c.1418C>A (p.Ala473Asp)
c.*4627C>A (n.*4627C>A)
c.1157C>A (p.Ala386Asp)
c.5-7119C>A (n.5-7119C>A)
c.317C>A (p.Ala106Asp)
c.-98-20880C>A (n.-98-20880C>A)
n.4980C>A
n.5021C>A
 dbSNP
17g.43071071C>ACA10591838BRCA1c.4840G>T (p.Ala1614Ser)
c.4843G>T (p.Ala1615Ser)
c.4717G>T (p.Ala1573Ser)
c.4837G>T (p.Ala1613Ser)
c.4765G>T (p.Ala1589Ser)
c.1531G>T (p.Ala511Ser)
c.1393G>T (p.Ala465Ser)
c.3955G>T (p.Ala1319Ser)
c.4720G>T (p.Ala1574Ser)
c.4909G>T (p.Ala1637Ser)
c.4702G>T (p.Ala1568Ser)
c.1405G>T (p.Ala469Ser)
c.1450G>T (p.Ala484Ser)
c.4906G>T (p.Ala1636Ser)
c.1230G>T
c.1417G>T (p.Ala473Ser)
c.*4626G>T (n.*4626G>T)
c.1156G>T (p.Ala386Ser)
c.5-7120G>T (n.5-7120G>T)
c.316G>T (p.Ala106Ser)
c.-98-20881G>T (n.-98-20881G>T)
n.4979G>T
n.5020G>T
 dbSNP
17g.43071071C=CA2260772886BRCA1c.4840G= (p.Ala1614=)
c.4843G= (p.Ala1615=)
c.4717G= (p.Ala1573=)
c.4837G= (p.Ala1613=)
c.4765G= (p.Ala1589=)
c.1531G= (p.Ala511=)
c.1393G= (p.Ala465=)
c.3955G= (p.Ala1319=)
c.4720G= (p.Ala1574=)
c.4909G= (p.Ala1637=)
c.4702G= (p.Ala1568=)
c.1405G= (p.Ala469=)
c.1450G= (p.Ala484=)
c.4906G= (p.Ala1636=)
c.1230G=
c.1417G= (p.Ala473=)
c.*4626G= (n.*4626G=)
c.1156G= (p.Ala386=)
c.5-7120G= (n.5-7120G=)
c.316G= (p.Ala106=)
c.-98-20881G= (n.-98-20881G=)
n.4979G=
n.5020G=
17g.43071071C>GCA10591839BRCA1c.4840G>C (p.Ala1614Pro)
c.4843G>C (p.Ala1615Pro)
c.4717G>C (p.Ala1573Pro)
c.4837G>C (p.Ala1613Pro)
c.4765G>C (p.Ala1589Pro)
c.1531G>C (p.Ala511Pro)
c.1393G>C (p.Ala465Pro)
c.3955G>C (p.Ala1319Pro)
c.4720G>C (p.Ala1574Pro)
c.4909G>C (p.Ala1637Pro)
c.4702G>C (p.Ala1568Pro)
c.1405G>C (p.Ala469Pro)
c.1450G>C (p.Ala484Pro)
c.4906G>C (p.Ala1636Pro)
c.1230G>C
c.1417G>C (p.Ala473Pro)
c.*4626G>C (n.*4626G>C)
c.1156G>C (p.Ala386Pro)
c.5-7120G>C (n.5-7120G>C)
c.316G>C (p.Ala106Pro)
c.-98-20881G>C (n.-98-20881G>C)
n.4979G>C
n.5020G>C
 ClinVar dbSNP
17g.43071071C>TCA003050BRCA1c.4840G>A (p.Ala1614Thr)
c.4843G>A (p.Ala1615Thr)
c.4717G>A (p.Ala1573Thr)
c.4837G>A (p.Ala1613Thr)
c.4765G>A (p.Ala1589Thr)
c.1531G>A (p.Ala511Thr)
c.1393G>A (p.Ala465Thr)
c.3955G>A (p.Ala1319Thr)
c.4720G>A (p.Ala1574Thr)
c.4909G>A (p.Ala1637Thr)
c.4702G>A (p.Ala1568Thr)
c.1405G>A (p.Ala469Thr)
c.1450G>A (p.Ala484Thr)
c.4906G>A (p.Ala1636Thr)
c.1230G>A
c.1417G>A (p.Ala473Thr)
c.*4626G>A (n.*4626G>A)
c.1156G>A (p.Ala386Thr)
c.5-7120G>A (n.5-7120G>A)
c.316G>A (p.Ala106Thr)
c.-98-20881G>A (n.-98-20881G>A)
n.4979G>A
n.5020G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43071071dupCA003049BRCA1c.4840dup (p.Ala1614GlyfsTer7)
c.4843dup (p.Ala1615GlyfsTer7)
c.4717dup (p.Ala1573GlyfsTer7)
c.4837dup (p.Ala1613GlyfsTer7)
c.4765dup (p.Ala1589GlyfsTer7)
c.1531dup (p.Ala511GlyfsTer7)
c.1393dup (p.Ala465GlyfsTer7)
c.3955dup (p.Ala1319GlyfsTer7)
c.4720dup (p.Ala1574GlyfsTer7)
c.4909dup (p.Ala1637GlyfsTer7)
c.4702dup (p.Ala1568GlyfsTer7)
c.1405dup (p.Ala469GlyfsTer7)
c.1450dup (p.Ala484GlyfsTer7)
c.4906dup (p.Ala1636GlyfsTer7)
c.1230dup
c.1417dup (p.Ala473GlyfsTer7)
c.*4626dup (n.*4626dup)
c.1156dup (p.Ala386GlyfsTer7)
c.5-7120dup (n.5-7120dup)
c.316dup (p.Ala106GlyfsTer7)
c.-98-20881dup (n.-98-20881dup)
n.4979dup
n.5020dup
 ClinVar dbSNP
17g.43071072T>ACA500231804BRCA1c.4839A>T (p.Pro1613=)
c.4842A>T (p.Pro1614=)
c.4716A>T (p.Pro1572=)
c.4836A>T (p.Pro1612=)
c.4764A>T (p.Pro1588=)
c.1530A>T (p.Pro510=)
c.1392A>T (p.Pro464=)
c.3954A>T (p.Pro1318=)
c.4719A>T (p.Pro1573=)
c.4908A>T (p.Pro1636=)
c.4701A>T (p.Pro1567=)
c.1404A>T (p.Pro468=)
c.1449A>T (p.Pro483=)
c.4905A>T (p.Pro1635=)
c.1229A>T
c.1416A>T (p.Pro472=)
c.*4625A>T (n.*4625A>T)
c.1155A>T (p.Pro385=)
c.5-7121A>T (n.5-7121A>T)
c.315A>T (p.Pro105=)
c.-98-20882A>T (n.-98-20882A>T)
n.4978A>T
n.5019A>T
17g.43071072T>CCA500231805BRCA1c.4839A>G (p.Pro1613=)
c.4842A>G (p.Pro1614=)
c.4716A>G (p.Pro1572=)
c.4836A>G (p.Pro1612=)
c.4764A>G (p.Pro1588=)
c.1530A>G (p.Pro510=)
c.1392A>G (p.Pro464=)
c.3954A>G (p.Pro1318=)
c.4719A>G (p.Pro1573=)
c.4908A>G (p.Pro1636=)
c.4701A>G (p.Pro1567=)
c.1404A>G (p.Pro468=)
c.1449A>G (p.Pro483=)
c.4905A>G (p.Pro1635=)
c.1229A>G
c.1416A>G (p.Pro472=)
c.*4625A>G (n.*4625A>G)
c.1155A>G (p.Pro385=)
c.5-7121A>G (n.5-7121A>G)
c.315A>G (p.Pro105=)
c.-98-20882A>G (n.-98-20882A>G)
n.4978A>G
n.5019A>G
17g.43071072T>GCA500231806BRCA1c.4839A>C (p.Pro1613=)
c.4842A>C (p.Pro1614=)
c.4716A>C (p.Pro1572=)
c.4836A>C (p.Pro1612=)
c.4764A>C (p.Pro1588=)
c.1530A>C (p.Pro510=)
c.1392A>C (p.Pro464=)
c.3954A>C (p.Pro1318=)
c.4719A>C (p.Pro1573=)
c.4908A>C (p.Pro1636=)
c.4701A>C (p.Pro1567=)
c.1404A>C (p.Pro468=)
c.1449A>C (p.Pro483=)
c.4905A>C (p.Pro1635=)
c.1229A>C
c.1416A>C (p.Pro472=)
c.*4625A>C (n.*4625A>C)
c.1155A>C (p.Pro385=)
c.5-7121A>C (n.5-7121A>C)
c.315A>C (p.Pro105=)
c.-98-20882A>C (n.-98-20882A>C)
n.4978A>C
n.5019A>C
17g.43071072T=CA2260772887BRCA1c.4839A= (p.Pro1613=)
c.4842A= (p.Pro1614=)
c.4716A= (p.Pro1572=)
c.4836A= (p.Pro1612=)
c.4764A= (p.Pro1588=)
c.1530A= (p.Pro510=)
c.1392A= (p.Pro464=)
c.3954A= (p.Pro1318=)
c.4719A= (p.Pro1573=)
c.4908A= (p.Pro1636=)
c.4701A= (p.Pro1567=)
c.1404A= (p.Pro468=)
c.1449A= (p.Pro483=)
c.4905A= (p.Pro1635=)
c.1229A=
c.1416A= (p.Pro472=)
c.*4625A= (n.*4625A=)
c.1155A= (p.Pro385=)
c.5-7121A= (n.5-7121A=)
c.315A= (p.Pro105=)
c.-98-20882A= (n.-98-20882A=)
n.4978A=
n.5019A=
17g.43071073G>ACA053344BRCA1c.4838C>T (p.Pro1613Leu)
c.4841C>T (p.Pro1614Leu)
c.4715C>T (p.Pro1572Leu)
c.4835C>T (p.Pro1612Leu)
c.4763C>T (p.Pro1588Leu)
c.1529C>T (p.Pro510Leu)
c.1391C>T (p.Pro464Leu)
c.3953C>T (p.Pro1318Leu)
c.4718C>T (p.Pro1573Leu)
c.4907C>T (p.Pro1636Leu)
c.4700C>T (p.Pro1567Leu)
c.1403C>T (p.Pro468Leu)
c.1448C>T (p.Pro483Leu)
c.4904C>T (p.Pro1635Leu)
c.1228C>T
c.1415C>T (p.Pro472Leu)
c.*4624C>T (n.*4624C>T)
c.1154C>T (p.Pro385Leu)
c.5-7122C>T (n.5-7122C>T)
c.314C>T (p.Pro105Leu)
c.-98-20883C>T (n.-98-20883C>T)
n.4977C>T
n.5018C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43071073G>CCA10591840BRCA1c.4838C>G (p.Pro1613Arg)
c.4841C>G (p.Pro1614Arg)
c.4715C>G (p.Pro1572Arg)
c.4835C>G (p.Pro1612Arg)
c.4763C>G (p.Pro1588Arg)
c.1529C>G (p.Pro510Arg)
c.1391C>G (p.Pro464Arg)
c.3953C>G (p.Pro1318Arg)
c.4718C>G (p.Pro1573Arg)
c.4907C>G (p.Pro1636Arg)
c.4700C>G (p.Pro1567Arg)
c.1403C>G (p.Pro468Arg)
c.1448C>G (p.Pro483Arg)
c.4904C>G (p.Pro1635Arg)
c.1228C>G
c.1415C>G (p.Pro472Arg)
c.*4624C>G (n.*4624C>G)
c.1154C>G (p.Pro385Arg)
c.5-7122C>G (n.5-7122C>G)
c.314C>G (p.Pro105Arg)
c.-98-20883C>G (n.-98-20883C>G)
n.4977C>G
n.5018C>G
 ClinVar dbSNP
17g.43071073G=CA2260772888BRCA1c.4838C= (p.Pro1613=)
c.4841C= (p.Pro1614=)
c.4715C= (p.Pro1572=)
c.4835C= (p.Pro1612=)
c.4763C= (p.Pro1588=)
c.1529C= (p.Pro510=)
c.1391C= (p.Pro464=)
c.3953C= (p.Pro1318=)
c.4718C= (p.Pro1573=)
c.4907C= (p.Pro1636=)
c.4700C= (p.Pro1567=)
c.1403C= (p.Pro468=)
c.1448C= (p.Pro483=)
c.4904C= (p.Pro1635=)
c.1228C=
c.1415C= (p.Pro472=)
c.*4624C= (n.*4624C=)
c.1154C= (p.Pro385=)
c.5-7122C= (n.5-7122C=)
c.314C= (p.Pro105=)
c.-98-20883C= (n.-98-20883C=)
n.4977C=
n.5018C=
17g.43071073G>TCA10591841BRCA1c.4838C>A (p.Pro1613Gln)
c.4841C>A (p.Pro1614Gln)
c.4715C>A (p.Pro1572Gln)
c.4835C>A (p.Pro1612Gln)
c.4763C>A (p.Pro1588Gln)
c.1529C>A (p.Pro510Gln)
c.1391C>A (p.Pro464Gln)
c.3953C>A (p.Pro1318Gln)
c.4718C>A (p.Pro1573Gln)
c.4907C>A (p.Pro1636Gln)
c.4700C>A (p.Pro1567Gln)
c.1403C>A (p.Pro468Gln)
c.1448C>A (p.Pro483Gln)
c.4904C>A (p.Pro1635Gln)
c.1228C>A
c.1415C>A (p.Pro472Gln)
c.*4624C>A (n.*4624C>A)
c.1154C>A (p.Pro385Gln)
c.5-7122C>A (n.5-7122C>A)
c.314C>A (p.Pro105Gln)
c.-98-20883C>A (n.-98-20883C>A)
n.4977C>A
n.5018C>A
17g.43071074dupCA658825005BRCA1c.4838dup (p.Ala1614SerfsTer7)
c.4841dup (p.Ala1615SerfsTer7)
c.4715dup (p.Ala1573SerfsTer7)
c.4835dup (p.Ala1613SerfsTer7)
c.4763dup (p.Ala1589SerfsTer7)
c.1529dup (p.Ala511SerfsTer7)
c.1391dup (p.Ala465SerfsTer7)
c.3953dup (p.Ala1319SerfsTer7)
c.4718dup (p.Ala1574SerfsTer7)
c.4907dup (p.Ala1637SerfsTer7)
c.4700dup (p.Ala1568SerfsTer7)
c.1403dup (p.Ala469SerfsTer7)
c.1448dup (p.Ala484SerfsTer7)
c.4904dup (p.Ala1636SerfsTer7)
c.1228dup
c.1415dup (p.Ala473SerfsTer7)
c.*4624dup (n.*4624dup)
c.1154dup (p.Ala386SerfsTer7)
c.5-7122dup (n.5-7122dup)
c.314dup (p.Ala106SerfsTer7)
c.-98-20883dup (n.-98-20883dup)
n.4977dup
n.5018dup
 ClinVar dbSNP
17g.43071074delCA645578302BRCA1c.4838del (p.Pro1613GlnfsTer19)
c.4841del (p.Pro1614GlnfsTer19)
c.4715del (p.Pro1572GlnfsTer19)
c.4835del (p.Pro1612GlnfsTer19)
c.4763del (p.Pro1588GlnfsTer19)
c.1529del (p.Pro510GlnfsTer19)
c.1391del (p.Pro464GlnfsTer19)
c.3953del (p.Pro1318GlnfsTer19)
c.4718del (p.Pro1573GlnfsTer19)
c.4907del (p.Pro1636GlnfsTer19)
c.4700del (p.Pro1567GlnfsTer19)
c.1403del (p.Pro468GlnfsTer19)
c.1448del (p.Pro483GlnfsTer19)
c.4904del (p.Pro1635GlnfsTer19)
c.1228del
c.1415del (p.Pro472GlnfsTer19)
c.*4624del (n.*4624del)
c.1154del (p.Pro385GlnfsTer19)
c.5-7122del (n.5-7122del)
c.314del (p.Pro105GlnfsTer19)
c.-98-20883del (n.-98-20883del)
n.4977del
n.5018del
 COSMIC COSMIC
17g.43071074G>ACA003048BRCA1c.4837C>T (p.Pro1613Ser)
c.4840C>T (p.Pro1614Ser)
c.4714C>T (p.Pro1572Ser)
c.4834C>T (p.Pro1612Ser)
c.4762C>T (p.Pro1588Ser)
c.1528C>T (p.Pro510Ser)
c.1390C>T (p.Pro464Ser)
c.3952C>T (p.Pro1318Ser)
c.4717C>T (p.Pro1573Ser)
c.4906C>T (p.Pro1636Ser)
c.4699C>T (p.Pro1567Ser)
c.1402C>T (p.Pro468Ser)
c.1447C>T (p.Pro483Ser)
c.4903C>T (p.Pro1635Ser)
c.1227C>T
c.1414C>T (p.Pro472Ser)
c.*4623C>T (n.*4623C>T)
c.1153C>T (p.Pro385Ser)
c.5-7123C>T (n.5-7123C>T)
c.313C>T (p.Pro105Ser)
c.-98-20884C>T (n.-98-20884C>T)
n.4976C>T
n.5017C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43071074G>CCA10591842BRCA1c.4837C>G (p.Pro1613Ala)
c.4840C>G (p.Pro1614Ala)
c.4714C>G (p.Pro1572Ala)
c.4834C>G (p.Pro1612Ala)
c.4762C>G (p.Pro1588Ala)
c.1528C>G (p.Pro510Ala)
c.1390C>G (p.Pro464Ala)
c.3952C>G (p.Pro1318Ala)
c.4717C>G (p.Pro1573Ala)
c.4906C>G (p.Pro1636Ala)
c.4699C>G (p.Pro1567Ala)
c.1402C>G (p.Pro468Ala)
c.1447C>G (p.Pro483Ala)
c.4903C>G (p.Pro1635Ala)
c.1227C>G
c.1414C>G (p.Pro472Ala)
c.*4623C>G (n.*4623C>G)
c.1153C>G (p.Pro385Ala)
c.5-7123C>G (n.5-7123C>G)
c.313C>G (p.Pro105Ala)
c.-98-20884C>G (n.-98-20884C>G)
n.4976C>G
n.5017C>G
 ClinVar dbSNP
17g.43071074G=CA2260772889BRCA1c.4837C= (p.Pro1613=)
c.4840C= (p.Pro1614=)
c.4714C= (p.Pro1572=)
c.4834C= (p.Pro1612=)
c.4762C= (p.Pro1588=)
c.1528C= (p.Pro510=)
c.1390C= (p.Pro464=)
c.3952C= (p.Pro1318=)
c.4717C= (p.Pro1573=)
c.4906C= (p.Pro1636=)
c.4699C= (p.Pro1567=)
c.1402C= (p.Pro468=)
c.1447C= (p.Pro483=)
c.4903C= (p.Pro1635=)
c.1227C=
c.1414C= (p.Pro472=)
c.*4623C= (n.*4623C=)
c.1153C= (p.Pro385=)
c.5-7123C= (n.5-7123C=)
c.313C= (p.Pro105=)
c.-98-20884C= (n.-98-20884C=)
n.4976C=
n.5017C=
17g.43071074G>TCA10591843BRCA1c.4837C>A (p.Pro1613Thr)
c.4840C>A (p.Pro1614Thr)
c.4714C>A (p.Pro1572Thr)
c.4834C>A (p.Pro1612Thr)
c.4762C>A (p.Pro1588Thr)
c.1528C>A (p.Pro510Thr)
c.1390C>A (p.Pro464Thr)
c.3952C>A (p.Pro1318Thr)
c.4717C>A (p.Pro1573Thr)
c.4906C>A (p.Pro1636Thr)
c.4699C>A (p.Pro1567Thr)
c.1402C>A (p.Pro468Thr)
c.1447C>A (p.Pro483Thr)
c.4903C>A (p.Pro1635Thr)
c.1227C>A
c.1414C>A (p.Pro472Thr)
c.*4623C>A (n.*4623C>A)
c.1153C>A (p.Pro385Thr)
c.5-7123C>A (n.5-7123C>A)
c.313C>A (p.Pro105Thr)
c.-98-20884C>A (n.-98-20884C>A)
n.4976C>A
n.5017C>A
17g.43071075A=CA2260772890BRCA1c.4836T= (p.Ser1612=)
c.4839T= (p.Ser1613=)
c.4713T= (p.Ser1571=)
c.4833T= (p.Ser1611=)
c.4761T= (p.Ser1587=)
c.1527T= (p.Ser509=)
c.1389T= (p.Ser463=)
c.3951T= (p.Ser1317=)
c.4716T= (p.Ser1572=)
c.4905T= (p.Ser1635=)
c.4698T= (p.Ser1566=)
c.1401T= (p.Ser467=)
c.1446T= (p.Ser482=)
c.4902T= (p.Ser1634=)
c.1226T=
c.1413T= (p.Ser471=)
c.*4622T= (n.*4622T=)
c.1152T= (p.Ser384=)
c.5-7124T= (n.5-7124T=)
c.312T= (p.Ser104=)
c.-98-20885T= (n.-98-20885T=)
n.4975T=
n.5016T=
17g.43071075A>CCA10591844BRCA1c.4836T>G (p.Ser1612Arg)
c.4839T>G (p.Ser1613Arg)
c.4713T>G (p.Ser1571Arg)
c.4833T>G (p.Ser1611Arg)
c.4761T>G (p.Ser1587Arg)
c.1527T>G (p.Ser509Arg)
c.1389T>G (p.Ser463Arg)
c.3951T>G (p.Ser1317Arg)
c.4716T>G (p.Ser1572Arg)
c.4905T>G (p.Ser1635Arg)
c.4698T>G (p.Ser1566Arg)
c.1401T>G (p.Ser467Arg)
c.1446T>G (p.Ser482Arg)
c.4902T>G (p.Ser1634Arg)
c.1226T>G
c.1413T>G (p.Ser471Arg)
c.*4622T>G (n.*4622T>G)
c.1152T>G (p.Ser384Arg)
c.5-7124T>G (n.5-7124T>G)
c.312T>G (p.Ser104Arg)
c.-98-20885T>G (n.-98-20885T>G)
n.4975T>G
n.5016T>G
 dbSNP
17g.43071075A>GCA500231807BRCA1c.4836T>C (p.Ser1612=)
c.4839T>C (p.Ser1613=)
c.4713T>C (p.Ser1571=)
c.4833T>C (p.Ser1611=)
c.4761T>C (p.Ser1587=)
c.1527T>C (p.Ser509=)
c.1389T>C (p.Ser463=)
c.3951T>C (p.Ser1317=)
c.4716T>C (p.Ser1572=)
c.4905T>C (p.Ser1635=)
c.4698T>C (p.Ser1566=)
c.1401T>C (p.Ser467=)
c.1446T>C (p.Ser482=)
c.4902T>C (p.Ser1634=)
c.1226T>C
c.1413T>C (p.Ser471=)
c.*4622T>C (n.*4622T>C)
c.1152T>C (p.Ser384=)
c.5-7124T>C (n.5-7124T>C)
c.312T>C (p.Ser104=)
c.-98-20885T>C (n.-98-20885T>C)
n.4975T>C
n.5016T>C
17g.43071075A>TCA10591845BRCA1c.4836T>A (p.Ser1612Arg)
c.4839T>A (p.Ser1613Arg)
c.4713T>A (p.Ser1571Arg)
c.4833T>A (p.Ser1611Arg)
c.4761T>A (p.Ser1587Arg)
c.1527T>A (p.Ser509Arg)
c.1389T>A (p.Ser463Arg)
c.3951T>A (p.Ser1317Arg)
c.4716T>A (p.Ser1572Arg)
c.4905T>A (p.Ser1635Arg)
c.4698T>A (p.Ser1566Arg)
c.1401T>A (p.Ser467Arg)
c.1446T>A (p.Ser482Arg)
c.4902T>A (p.Ser1634Arg)
c.1226T>A
c.1413T>A (p.Ser471Arg)
c.*4622T>A (n.*4622T>A)
c.1152T>A (p.Ser384Arg)
c.5-7124T>A (n.5-7124T>A)
c.312T>A (p.Ser104Arg)
c.-98-20885T>A (n.-98-20885T>A)
n.4975T>A
n.5016T>A
 dbSNP gnomAD v4
17g.43071075_43071077delinsACTCA2260772891BRCA1c.4834_4836delinsAGT (p.Ser1612=)
c.4837_4839delinsAGT (p.Ser1613=)
c.4711_4713delinsAGT (p.Ser1571=)
c.4831_4833delinsAGT (p.Ser1611=)
c.4759_4761delinsAGT (p.Ser1587=)
c.1525_1527delinsAGT (p.Ser509=)
c.1387_1389delinsAGT (p.Ser463=)
c.3949_3951delinsAGT (p.Ser1317=)
c.4714_4716delinsAGT (p.Ser1572=)
c.4903_4905delinsAGT (p.Ser1635=)
c.4696_4698delinsAGT (p.Ser1566=)
c.1399_1401delinsAGT (p.Ser467=)
c.1444_1446delinsAGT (p.Ser482=)
c.4900_4902delinsAGT (p.Ser1634=)
c.1224_1226delinsAGT
c.1411_1413delinsAGT (p.Ser471=)
c.*4620_*4622delinsAGT (n.*4620_*4622delinsAGT)
c.1150_1152delinsAGT (p.Ser384=)
c.5-7126_5-7124delinsAGT (n.5-7126_5-7124delinsAGT)
c.310_312delinsAGT (p.Ser104=)
c.-98-20887_-98-20885delinsAGT (n.-98-20887_-98-20885delinsAGT)
n.4973_4975delinsAGT
n.5014_5016delinsAGT
17g.43071075_43071076insGCA003047BRCA1c.4835_4836insC (p.Pro1613SerfsTer8)
c.4838_4839insC (p.Pro1614SerfsTer8)
c.4712_4713insC (p.Pro1572SerfsTer8)
c.4832_4833insC (p.Pro1612SerfsTer8)
c.4760_4761insC (p.Pro1588SerfsTer8)
c.1526_1527insC (p.Pro510SerfsTer8)
c.1388_1389insC (p.Pro464SerfsTer8)
c.3950_3951insC (p.Pro1318SerfsTer8)
c.4715_4716insC (p.Pro1573SerfsTer8)
c.4904_4905insC (p.Pro1636SerfsTer8)
c.4697_4698insC (p.Pro1567SerfsTer8)
c.1400_1401insC (p.Pro468SerfsTer8)
c.1445_1446insC (p.Pro483SerfsTer8)
c.4901_4902insC (p.Pro1635SerfsTer8)
c.1225_1226insC
c.1412_1413insC (p.Pro472SerfsTer8)
c.*4621_*4622insC (n.*4621_*4622insC)
c.1151_1152insC (p.Pro385SerfsTer8)
c.5-7125_5-7124insC (n.5-7125_5-7124insC)
c.311_312insC (p.Pro105SerfsTer8)
c.-98-20886_-98-20885insC (n.-98-20886_-98-20885insC)
n.4974_4975insC
n.5015_5016insC
 ClinVar dbSNP
17g.43071075_43071076insGGCA2638062522BRCA1c.4835_4836insCC (p.Pro1613LeufsTer20)
c.4838_4839insCC (p.Pro1614LeufsTer20)
c.4712_4713insCC (p.Pro1572LeufsTer20)
c.4832_4833insCC (p.Pro1612LeufsTer20)
c.4760_4761insCC (p.Pro1588LeufsTer20)
c.1526_1527insCC (p.Pro510LeufsTer20)
c.1388_1389insCC (p.Pro464LeufsTer20)
c.3950_3951insCC (p.Pro1318LeufsTer20)
c.4715_4716insCC (p.Pro1573LeufsTer20)
c.4904_4905insCC (p.Pro1636LeufsTer20)
c.4697_4698insCC (p.Pro1567LeufsTer20)
c.1400_1401insCC (p.Pro468LeufsTer20)
c.1445_1446insCC (p.Pro483LeufsTer20)
c.4901_4902insCC (p.Pro1635LeufsTer20)
c.1225_1226insCC
c.1412_1413insCC (p.Pro472LeufsTer20)
c.*4621_*4622insCC (n.*4621_*4622insCC)
c.1151_1152insCC (p.Pro385LeufsTer20)
c.5-7125_5-7124insCC (n.5-7125_5-7124insCC)
c.311_312insCC (p.Pro105LeufsTer20)
c.-98-20886_-98-20885insCC (n.-98-20886_-98-20885insCC)
n.4974_4975insCC
n.5015_5016insCC
 gnomAD v4
17g.43071076C>ACA10591846BRCA1c.4835G>T (p.Ser1612Ile)
c.4838G>T (p.Ser1613Ile)
c.4712G>T (p.Ser1571Ile)
c.4832G>T (p.Ser1611Ile)
c.4760G>T (p.Ser1587Ile)
c.1526G>T (p.Ser509Ile)
c.1388G>T (p.Ser463Ile)
c.3950G>T (p.Ser1317Ile)
c.4715G>T (p.Ser1572Ile)
c.4904G>T (p.Ser1635Ile)
c.4697G>T (p.Ser1566Ile)
c.1400G>T (p.Ser467Ile)
c.1445G>T (p.Ser482Ile)
c.4901G>T (p.Ser1634Ile)
c.1225G>T
c.1412G>T (p.Ser471Ile)
c.*4621G>T (n.*4621G>T)
c.1151G>T (p.Ser384Ile)
c.5-7125G>T (n.5-7125G>T)
c.311G>T (p.Ser104Ile)
c.-98-20886G>T (n.-98-20886G>T)
n.4974G>T
n.5015G>T
17g.43071076C=CA2260772893BRCA1c.4835G= (p.Ser1612=)
c.4838G= (p.Ser1613=)
c.4712G= (p.Ser1571=)
c.4832G= (p.Ser1611=)
c.4760G= (p.Ser1587=)
c.1526G= (p.Ser509=)
c.1388G= (p.Ser463=)
c.3950G= (p.Ser1317=)
c.4715G= (p.Ser1572=)
c.4904G= (p.Ser1635=)
c.4697G= (p.Ser1566=)
c.1400G= (p.Ser467=)
c.1445G= (p.Ser482=)
c.4901G= (p.Ser1634=)
c.1225G=
c.1412G= (p.Ser471=)
c.*4621G= (n.*4621G=)
c.1151G= (p.Ser384=)
c.5-7125G= (n.5-7125G=)
c.311G= (p.Ser104=)
c.-98-20886G= (n.-98-20886G=)
n.4974G=
n.5015G=
17g.43071076C>GCA10591847BRCA1c.4835G>C (p.Ser1612Thr)
c.4838G>C (p.Ser1613Thr)
c.4712G>C (p.Ser1571Thr)
c.4832G>C (p.Ser1611Thr)
c.4760G>C (p.Ser1587Thr)
c.1526G>C (p.Ser509Thr)
c.1388G>C (p.Ser463Thr)
c.3950G>C (p.Ser1317Thr)
c.4715G>C (p.Ser1572Thr)
c.4904G>C (p.Ser1635Thr)
c.4697G>C (p.Ser1566Thr)
c.1400G>C (p.Ser467Thr)
c.1445G>C (p.Ser482Thr)
c.4901G>C (p.Ser1634Thr)
c.1225G>C
c.1412G>C (p.Ser471Thr)
c.*4621G>C (n.*4621G>C)
c.1151G>C (p.Ser384Thr)
c.5-7125G>C (n.5-7125G>C)
c.311G>C (p.Ser104Thr)
c.-98-20886G>C (n.-98-20886G>C)
n.4974G>C
n.5015G>C
 dbSNP
17g.43071076C>TCA10591848BRCA1c.4835G>A (p.Ser1612Asn)
c.4838G>A (p.Ser1613Asn)
c.4712G>A (p.Ser1571Asn)
c.4832G>A (p.Ser1611Asn)
c.4760G>A (p.Ser1587Asn)
c.1526G>A (p.Ser509Asn)
c.1388G>A (p.Ser463Asn)
c.3950G>A (p.Ser1317Asn)
c.4715G>A (p.Ser1572Asn)
c.4904G>A (p.Ser1635Asn)
c.4697G>A (p.Ser1566Asn)
c.1400G>A (p.Ser467Asn)
c.1445G>A (p.Ser482Asn)
c.4901G>A (p.Ser1634Asn)
c.1225G>A
c.1412G>A (p.Ser471Asn)
c.*4621G>A (n.*4621G>A)
c.1151G>A (p.Ser384Asn)
c.5-7125G>A (n.5-7125G>A)
c.311G>A (p.Ser104Asn)
c.-98-20886G>A (n.-98-20886G>A)
n.4974G>A
n.5015G>A
 ClinVar dbSNP gnomAD v4
17g.43071076dupCA2499224394BRCA1c.4835dup (p.Ser1612ArgfsTer9)
c.4838dup (p.Ser1613ArgfsTer9)
c.4712dup (p.Ser1571ArgfsTer9)
c.4832dup (p.Ser1611ArgfsTer9)
c.4760dup (p.Ser1587ArgfsTer9)
c.1526dup (p.Ser509ArgfsTer9)
c.1388dup (p.Ser463ArgfsTer9)
c.3950dup (p.Ser1317ArgfsTer9)
c.4715dup (p.Ser1572ArgfsTer9)
c.4904dup (p.Ser1635ArgfsTer9)
c.4697dup (p.Ser1566ArgfsTer9)
c.1400dup (p.Ser467ArgfsTer9)
c.1445dup (p.Ser482ArgfsTer9)
c.4901dup (p.Ser1634ArgfsTer9)
c.1225dup
c.1412dup (p.Ser471ArgfsTer9)
c.*4621dup (n.*4621dup)
c.1151dup (p.Ser384ArgfsTer9)
c.5-7125dup (n.5-7125dup)
c.311dup (p.Ser104ArgfsTer9)
c.-98-20886dup (n.-98-20886dup)
n.4974dup
n.5015dup
17g.43071076_43071077delinsCTCA2260772892BRCA1c.4834_4835delinsAG (p.Ser1612=)
c.4837_4838delinsAG (p.Ser1613=)
c.4711_4712delinsAG (p.Ser1571=)
c.4831_4832delinsAG (p.Ser1611=)
c.4759_4760delinsAG (p.Ser1587=)
c.1525_1526delinsAG (p.Ser509=)
c.1387_1388delinsAG (p.Ser463=)
c.3949_3950delinsAG (p.Ser1317=)
c.4714_4715delinsAG (p.Ser1572=)
c.4903_4904delinsAG (p.Ser1635=)
c.4696_4697delinsAG (p.Ser1566=)
c.1399_1400delinsAG (p.Ser467=)
c.1444_1445delinsAG (p.Ser482=)
c.4900_4901delinsAG (p.Ser1634=)
c.1224_1225delinsAG
c.1411_1412delinsAG (p.Ser471=)
c.*4620_*4621delinsAG (n.*4620_*4621delinsAG)
c.1150_1151delinsAG (p.Ser384=)
c.5-7126_5-7125delinsAG (n.5-7126_5-7125delinsAG)
c.310_311delinsAG (p.Ser104=)
c.-98-20887_-98-20886delinsAG (n.-98-20887_-98-20886delinsAG)
n.4973_4974delinsAG
n.5014_5015delinsAG
17g.43071076_43071077delinsTCCA913188824BRCA1c.4834_4835delinsGA (p.Ser1612Asp)
c.4837_4838delinsGA (p.Ser1613Asp)
c.4711_4712delinsGA (p.Ser1571Asp)
c.4831_4832delinsGA (p.Ser1611Asp)
c.4759_4760delinsGA (p.Ser1587Asp)
c.1525_1526delinsGA (p.Ser509Asp)
c.1387_1388delinsGA (p.Ser463Asp)
c.3949_3950delinsGA (p.Ser1317Asp)
c.4714_4715delinsGA (p.Ser1572Asp)
c.4903_4904delinsGA (p.Ser1635Asp)
c.4696_4697delinsGA (p.Ser1566Asp)
c.1399_1400delinsGA (p.Ser467Asp)
c.1444_1445delinsGA (p.Ser482Asp)
c.4900_4901delinsGA (p.Ser1634Asp)
c.1224_1225delinsGA
c.1411_1412delinsGA (p.Ser471Asp)
c.*4620_*4621delinsGA (n.*4620_*4621delinsGA)
c.1150_1151delinsGA (p.Ser384Asp)
c.5-7126_5-7125delinsGA (n.5-7126_5-7125delinsGA)
c.310_311delinsGA (p.Ser104Asp)
c.-98-20887_-98-20886delinsGA (n.-98-20887_-98-20886delinsGA)
n.4973_4974delinsGA
n.5014_5015delinsGA
 ClinVar dbSNP
17g.43071076_43071077delinsGGCCA003043BRCA1c.4834_4835delinsGCC (p.Ser1612AlafsTer9)
c.4837_4838delinsGCC (p.Ser1613AlafsTer9)
c.4711_4712delinsGCC (p.Ser1571AlafsTer9)
c.4831_4832delinsGCC (p.Ser1611AlafsTer9)
c.4759_4760delinsGCC (p.Ser1587AlafsTer9)
c.1525_1526delinsGCC (p.Ser509AlafsTer9)
c.1387_1388delinsGCC (p.Ser463AlafsTer9)
c.3949_3950delinsGCC (p.Ser1317AlafsTer9)
c.4714_4715delinsGCC (p.Ser1572AlafsTer9)
c.4903_4904delinsGCC (p.Ser1635AlafsTer9)
c.4696_4697delinsGCC (p.Ser1566AlafsTer9)
c.1399_1400delinsGCC (p.Ser467AlafsTer9)
c.1444_1445delinsGCC (p.Ser482AlafsTer9)
c.4900_4901delinsGCC (p.Ser1634AlafsTer9)
c.1224_1225delinsGCC
c.1411_1412delinsGCC (p.Ser471AlafsTer9)
c.*4620_*4621delinsGCC (n.*4620_*4621delinsGCC)
c.1150_1151delinsGCC (p.Ser384AlafsTer9)
c.5-7126_5-7125delinsGCC (n.5-7126_5-7125delinsGCC)
c.310_311delinsGCC (p.Ser104AlafsTer9)
c.-98-20887_-98-20886delinsGCC (n.-98-20887_-98-20886delinsGCC)
n.4973_4974delinsGCC
n.5014_5015delinsGCC
 ClinVar dbSNP
17g.43071077delCA003046BRCA1c.4834del (p.Ser1612ValfsTer20)
c.4837del (p.Ser1613ValfsTer20)
c.4711del (p.Ser1571ValfsTer20)
c.4831del (p.Ser1611ValfsTer20)
c.4759del (p.Ser1587ValfsTer20)
c.1525del (p.Ser509ValfsTer20)
c.1387del (p.Ser463ValfsTer20)
c.3949del (p.Ser1317ValfsTer20)
c.4714del (p.Ser1572ValfsTer20)
c.4903del (p.Ser1635ValfsTer20)
c.4696del (p.Ser1566ValfsTer20)
c.1399del (p.Ser467ValfsTer20)
c.1444del (p.Ser482ValfsTer20)
c.4900del (p.Ser1634ValfsTer20)
c.1224del
c.1411del (p.Ser471ValfsTer20)
c.*4620del (n.*4620del)
c.1150del (p.Ser384ValfsTer20)
c.5-7126del (n.5-7126del)
c.310del (p.Ser104ValfsTer20)
c.-98-20887del (n.-98-20887del)
n.4973del
n.5014del
 ClinVar dbSNP gnomAD v4
17g.43071077T>ACA003045BRCA1c.4834A>T (p.Ser1612Cys)
c.4837A>T (p.Ser1613Cys)
c.4711A>T (p.Ser1571Cys)
c.4831A>T (p.Ser1611Cys)
c.4759A>T (p.Ser1587Cys)
c.1525A>T (p.Ser509Cys)
c.1387A>T (p.Ser463Cys)
c.3949A>T (p.Ser1317Cys)
c.4714A>T (p.Ser1572Cys)
c.4903A>T (p.Ser1635Cys)
c.4696A>T (p.Ser1566Cys)
c.1399A>T (p.Ser467Cys)
c.1444A>T (p.Ser482Cys)
c.4900A>T (p.Ser1634Cys)
c.1224A>T
c.1411A>T (p.Ser471Cys)
c.*4620A>T (n.*4620A>T)
c.1150A>T (p.Ser384Cys)
c.5-7126A>T (n.5-7126A>T)
c.310A>T (p.Ser104Cys)
c.-98-20887A>T (n.-98-20887A>T)
n.4973A>T
n.5014A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43071077T>CCA003044BRCA1c.4834A>G (p.Ser1612Gly)
c.4837A>G (p.Ser1613Gly)
c.4711A>G (p.Ser1571Gly)
c.4831A>G (p.Ser1611Gly)
c.4759A>G (p.Ser1587Gly)
c.1525A>G (p.Ser509Gly)
c.1387A>G (p.Ser463Gly)
c.3949A>G (p.Ser1317Gly)
c.4714A>G (p.Ser1572Gly)
c.4903A>G (p.Ser1635Gly)
c.4696A>G (p.Ser1566Gly)
c.1399A>G (p.Ser467Gly)
c.1444A>G (p.Ser482Gly)
c.4900A>G (p.Ser1634Gly)
c.1224A>G
c.1411A>G (p.Ser471Gly)
c.*4620A>G (n.*4620A>G)
c.1150A>G (p.Ser384Gly)
c.5-7126A>G (n.5-7126A>G)
c.310A>G (p.Ser104Gly)
c.-98-20887A>G (n.-98-20887A>G)
n.4973A>G
n.5014A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43071077T>GCA10591849BRCA1c.4834A>C (p.Ser1612Arg)
c.4837A>C (p.Ser1613Arg)
c.4711A>C (p.Ser1571Arg)
c.4831A>C (p.Ser1611Arg)
c.4759A>C (p.Ser1587Arg)
c.1525A>C (p.Ser509Arg)
c.1387A>C (p.Ser463Arg)
c.3949A>C (p.Ser1317Arg)
c.4714A>C (p.Ser1572Arg)
c.4903A>C (p.Ser1635Arg)
c.4696A>C (p.Ser1566Arg)
c.1399A>C (p.Ser467Arg)
c.1444A>C (p.Ser482Arg)
c.4900A>C (p.Ser1634Arg)
c.1224A>C
c.1411A>C (p.Ser471Arg)
c.*4620A>C (n.*4620A>C)
c.1150A>C (p.Ser384Arg)
c.5-7126A>C (n.5-7126A>C)
c.310A>C (p.Ser104Arg)
c.-98-20887A>C (n.-98-20887A>C)
n.4973A>C
n.5014A>C
 ClinVar dbSNP
17g.43071077T=CA2260772894BRCA1c.4834A= (p.Ser1612=)
c.4837A= (p.Ser1613=)
c.4711A= (p.Ser1571=)
c.4831A= (p.Ser1611=)
c.4759A= (p.Ser1587=)
c.1525A= (p.Ser509=)
c.1387A= (p.Ser463=)
c.3949A= (p.Ser1317=)
c.4714A= (p.Ser1572=)
c.4903A= (p.Ser1635=)
c.4696A= (p.Ser1566=)
c.1399A= (p.Ser467=)
c.1444A= (p.Ser482=)
c.4900A= (p.Ser1634=)
c.1224A=
c.1411A= (p.Ser471=)
c.*4620A= (n.*4620A=)
c.1150A= (p.Ser384=)
c.5-7126A= (n.5-7126A=)
c.310A= (p.Ser104=)
c.-98-20887A= (n.-98-20887A=)
n.4973A=
n.5014A=

Number of alleles fetched