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.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.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.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.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

Number of alleles fetched