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

Number of alleles fetched