Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.43063955_43071241del | CA10575957 | BRCA1 | c.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 | |
17 | g.43066661_43072815del | CA913190336 | BRCA1 | c.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 |
17 | g.43067611_43071241del | CA2581463406 | BRCA1 | c.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 | |
17 | g.43070037_43072667del | CA10602585 | BRCA1 | c.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 |
17 | g.43070145_43072775del | CA2697559917 | BRCA1 | c.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 |
17 | g.43070208_43078359dup | CA16043350 | BRCA1 | c.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 | |
17 | g.43070192_43078360dup | CA2580612611 | BRCA1 | c.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 | |
17 | g.43070929_43070948delinsAATTCTTCTGGGGTCAGGCC | CA2260772732 | BRCA1 | c.4963_4982delinsGGCCTGACCCCAGAAGAATT (p.Gly1655=) c.4966_4985delinsGGCCTGACCCCAGAAGAATT (p.Gly1656=) c.4840_4859delinsGGCCTGACCCCAGAAGAATT (p.Gly1614=) c.4960_4979delinsGGCCTGACCCCAGAAGAATT (p.Gly1654=) c.4888_4907delinsGGCCTGACCCCAGAAGAATT (p.Gly1630=) c.1654_1673delinsGGCCTGACCCCAGAAGAATT (p.Gly552=) c.1516_1535delinsGGCCTGACCCCAGAAGAATT (p.Gly506=) c.4078_4097delinsGGCCTGACCCCAGAAGAATT (p.Gly1360=) c.4843_4862delinsGGCCTGACCCCAGAAGAATT (p.Gly1615=) c.5032_5051delinsGGCCTGACCCCAGAAGAATT (p.Gly1678=) c.4825_4844delinsGGCCTGACCCCAGAAGAATT (p.Gly1609=) c.1528_1547delinsGGCCTGACCCCAGAAGAATT (p.Gly510=) c.1573_1592delinsGGCCTGACCCCAGAAGAATT (p.Gly525=) c.5029_5048delinsGGCCTGACCCCAGAAGAATT (p.Gly1677=) c.1353_1372delinsGGCCTGACCCCAGAAGAATT c.1540_1559delinsGGCCTGACCCCAGAAGAATT (p.Gly514=) c.*4749_*4768delinsGGCCTGACCCCAGAAGAATT (n.*4749_*4768delinsGGCCTGACCCCAGAAGAATT) n.119_138delinsGGCCTGACCCCAGAAGAATT c.1279_1298delinsGGCCTGACCCCAGAAGAATT (p.Gly427=) c.5-6997_5-6978delinsGGCCTGACCCCAGAAGAATT (n.5-6997_5-6978delinsGGCCTGACCCCAGAAGAATT) c.439_458delinsGGCCTGACCCCAGAAGAATT (p.Gly147=) c.-98-20758_-98-20739delinsGGCCTGACCCCAGAAGAATT (n.-98-20758_-98-20739delinsGGCCTGACCCCAGAAGAATT) n.5102_5121delinsGGCCTGACCCCAGAAGAATT n.5143_5162delinsGGCCTGACCCCAGAAGAATT | |
17 | g.43070931_43070949del | CA003113 | BRCA1 | c.4963_4981del (p.Gly1655LeufsTer15) c.4966_4984del (p.Gly1656LeufsTer15) c.4840_4858del (p.Gly1614LeufsTer15) c.4960_4978del (p.Gly1654LeufsTer15) c.4888_4906del (p.Gly1630LeufsTer15) c.1654_1672del (p.Gly552LeufsTer15) c.1516_1534del (p.Gly506LeufsTer15) c.4078_4096del (p.Gly1360LeufsTer15) c.4843_4861del (p.Gly1615LeufsTer15) c.5032_5050del (p.Gly1678LeufsTer15) c.4825_4843del (p.Gly1609LeufsTer15) c.1528_1546del (p.Gly510LeufsTer15) c.1573_1591del (p.Gly525LeufsTer2) c.5029_5047del (p.Gly1677LeufsTer15) c.1353_1371del c.1540_1558del (p.Gly514LeufsTer15) c.*4749_*4767del (n.*4749_*4767del) n.119_137del c.1279_1297del (p.Gly427LeufsTer15) c.5-6997_5-6979del (n.5-6997_5-6979del) c.439_457del (p.Gly147LeufsTer15) c.-98-20758_-98-20740del (n.-98-20758_-98-20740del) n.5102_5120del n.5143_5161del | ClinVar dbSNP |
17 | g.43070935_43070937del | CA915950101 | BRCA1 | c.4978_4980del (p.Glu1660del) c.4981_4983del (p.Glu1661del) c.4855_4857del (p.Glu1619del) c.4975_4977del (p.Glu1659del) c.4903_4905del (p.Glu1635del) c.1669_1671del (p.Glu557del) c.1531_1533del (p.Glu511del) c.4093_4095del (p.Glu1365del) c.4858_4860del (p.Glu1620del) c.5047_5049del (p.Glu1683del) c.4840_4842del (p.Glu1614del) c.1543_1545del (p.Glu515del) c.1588_1590del (p.Glu530del) c.5044_5046del (p.Glu1682del) c.1368_1370del c.1555_1557del (p.Glu519del) c.*4764_*4766del (n.*4764_*4766del) n.134_136del c.1294_1296del (p.Glu432del) c.5-6982_5-6980del (n.5-6982_5-6980del) c.454_456del (p.Glu152del) c.-98-20743_-98-20741del (n.-98-20743_-98-20741del) n.5117_5119del n.5158_5160del | ClinVar dbSNP |
17 | g.43070931_43070950delinsTTCTTCTGGGGTCAGGCCAG | CA2260772735 | BRCA1 | c.4961_4980delinsCTGGCCTGACCCCAGAAGAA (p.Ser1654=) c.4964_4983delinsCTGGCCTGACCCCAGAAGAA (p.Ser1655=) c.4838_4857delinsCTGGCCTGACCCCAGAAGAA (p.Ser1613=) c.4958_4977delinsCTGGCCTGACCCCAGAAGAA (p.Ser1653=) c.4886_4905delinsCTGGCCTGACCCCAGAAGAA (p.Ser1629=) c.1652_1671delinsCTGGCCTGACCCCAGAAGAA (p.Ser551=) c.1514_1533delinsCTGGCCTGACCCCAGAAGAA (p.Ser505=) c.4076_4095delinsCTGGCCTGACCCCAGAAGAA (p.Ser1359=) c.4841_4860delinsCTGGCCTGACCCCAGAAGAA (p.Ser1614=) c.5030_5049delinsCTGGCCTGACCCCAGAAGAA (p.Ser1677=) c.4823_4842delinsCTGGCCTGACCCCAGAAGAA (p.Ser1608=) c.1526_1545delinsCTGGCCTGACCCCAGAAGAA (p.Ser509=) c.1571_1590delinsCTGGCCTGACCCCAGAAGAA (p.Ser524=) c.5027_5046delinsCTGGCCTGACCCCAGAAGAA (p.Ser1676=) c.1351_1370delinsCTGGCCTGACCCCAGAAGAA c.1538_1557delinsCTGGCCTGACCCCAGAAGAA (p.Ser513=) c.*4747_*4766delinsCTGGCCTGACCCCAGAAGAA (n.*4747_*4766delinsCTGGCCTGACCCCAGAAGAA) n.117_136delinsCTGGCCTGACCCCAGAAGAA c.1277_1296delinsCTGGCCTGACCCCAGAAGAA (p.Ser426=) c.5-6999_5-6980delinsCTGGCCTGACCCCAGAAGAA (n.5-6999_5-6980delinsCTGGCCTGACCCCAGAAGAA) c.437_456delinsCTGGCCTGACCCCAGAAGAA (p.Ser146=) c.-98-20760_-98-20741delinsCTGGCCTGACCCCAGAAGAA (n.-98-20760_-98-20741delinsCTGGCCTGACCCCAGAAGAA) n.5100_5119delinsCTGGCCTGACCCCAGAAGAA n.5141_5160delinsCTGGCCTGACCCCAGAAGAA | |
17 | g.43070932_43070940del | CA2697559918 | BRCA1 | c.4971_4979del (p.Pro1658_Glu1660del) c.4974_4982del (p.Pro1659_Glu1661del) c.4848_4856del (p.Pro1617_Glu1619del) c.4968_4976del (p.Pro1657_Glu1659del) c.4896_4904del (p.Pro1633_Glu1635del) c.1662_1670del (p.Pro555_Glu557del) c.1524_1532del (p.Pro509_Glu511del) c.4086_4094del (p.Pro1363_Glu1365del) c.4851_4859del (p.Pro1618_Glu1620del) c.5040_5048del (p.Pro1681_Glu1683del) c.4833_4841del (p.Pro1612_Glu1614del) c.1536_1544del (p.Pro513_Glu515del) c.1581_1589del (p.Pro528_Glu530del) c.5037_5045del (p.Pro1680_Glu1682del) c.1361_1369del c.1548_1556del (p.Pro517_Glu519del) c.*4757_*4765del (n.*4757_*4765del) n.127_135del c.1287_1295del (p.Pro430_Glu432del) c.5-6989_5-6981del (n.5-6989_5-6981del) c.447_455del (p.Pro150_Glu152del) c.-98-20750_-98-20742del (n.-98-20750_-98-20742del) n.5110_5118del n.5151_5159del | ClinVar |
17 | g.43070932_43070950del | CA003108 | BRCA1 | c.4961_4979del (p.Ser1654TyrfsTer16) c.4964_4982del (p.Ser1655TyrfsTer16) c.4838_4856del (p.Ser1613TyrfsTer16) c.4958_4976del (p.Ser1653TyrfsTer16) c.4886_4904del (p.Ser1629TyrfsTer16) c.1652_1670del (p.Ser551TyrfsTer16) c.1514_1532del (p.Ser505TyrfsTer16) c.4076_4094del (p.Ser1359TyrfsTer16) c.4841_4859del (p.Ser1614TyrfsTer16) c.5030_5048del (p.Ser1677TyrfsTer16) c.4823_4841del (p.Ser1608TyrfsTer16) c.1526_1544del (p.Ser509TyrfsTer16) c.1571_1589del (p.Ser524TyrfsTer3) c.5027_5045del (p.Ser1676TyrfsTer16) c.1351_1369del c.1538_1556del (p.Ser513TyrfsTer16) c.*4747_*4765del (n.*4747_*4765del) n.117_135del c.1277_1295del (p.Ser426TyrfsTer16) c.5-6999_5-6981del (n.5-6999_5-6981del) c.437_455del (p.Ser146TyrfsTer16) c.-98-20760_-98-20742del (n.-98-20760_-98-20742del) n.5100_5118del n.5141_5159del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43070934_43070952del | CA658761200 | BRCA1 | c.4960_4978del (p.Ser1654AsnfsTer16) c.4963_4981del (p.Ser1655AsnfsTer16) c.4837_4855del (p.Ser1613AsnfsTer16) c.4957_4975del (p.Ser1653AsnfsTer16) c.4885_4903del (p.Ser1629AsnfsTer16) c.1651_1669del (p.Ser551AsnfsTer16) c.1513_1531del (p.Ser505AsnfsTer16) c.4075_4093del (p.Ser1359AsnfsTer16) c.4840_4858del (p.Ser1614AsnfsTer16) c.5029_5047del (p.Ser1677AsnfsTer16) c.4822_4840del (p.Ser1608AsnfsTer16) c.1525_1543del (p.Ser509AsnfsTer16) c.1570_1588del (p.Ser524AsnfsTer3) c.5026_5044del (p.Ser1676AsnfsTer16) c.1350_1368del c.1537_1555del (p.Ser513AsnfsTer16) c.*4746_*4764del (n.*4746_*4764del) n.116_134del c.1276_1294del (p.Ser426AsnfsTer16) c.5-7000_5-6982del (n.5-7000_5-6982del) c.436_454del (p.Ser146AsnfsTer16) c.-98-20761_-98-20743del (n.-98-20761_-98-20743del) n.5099_5117del n.5140_5158del | |
17 | g.43070934_43070950delinsTTCTGGGGTCAGGCCAG | CA2260772739 | BRCA1 | c.4961_4977delinsCTGGCCTGACCCCAGAA (p.Ser1654=) c.4964_4980delinsCTGGCCTGACCCCAGAA (p.Ser1655=) c.4838_4854delinsCTGGCCTGACCCCAGAA (p.Ser1613=) c.4958_4974delinsCTGGCCTGACCCCAGAA (p.Ser1653=) c.4886_4902delinsCTGGCCTGACCCCAGAA (p.Ser1629=) c.1652_1668delinsCTGGCCTGACCCCAGAA (p.Ser551=) c.1514_1530delinsCTGGCCTGACCCCAGAA (p.Ser505=) c.4076_4092delinsCTGGCCTGACCCCAGAA (p.Ser1359=) c.4841_4857delinsCTGGCCTGACCCCAGAA (p.Ser1614=) c.5030_5046delinsCTGGCCTGACCCCAGAA (p.Ser1677=) c.4823_4839delinsCTGGCCTGACCCCAGAA (p.Ser1608=) c.1526_1542delinsCTGGCCTGACCCCAGAA (p.Ser509=) c.1571_1587delinsCTGGCCTGACCCCAGAA (p.Ser524=) c.5027_5043delinsCTGGCCTGACCCCAGAA (p.Ser1676=) c.1351_1367delinsCTGGCCTGACCCCAGAA c.1538_1554delinsCTGGCCTGACCCCAGAA (p.Ser513=) c.*4747_*4763delinsCTGGCCTGACCCCAGAA (n.*4747_*4763delinsCTGGCCTGACCCCAGAA) n.117_133delinsCTGGCCTGACCCCAGAA c.1277_1293delinsCTGGCCTGACCCCAGAA (p.Ser426=) c.5-6999_5-6983delinsCTGGCCTGACCCCAGAA (n.5-6999_5-6983delinsCTGGCCTGACCCCAGAA) c.437_453delinsCTGGCCTGACCCCAGAA (p.Ser146=) c.-98-20760_-98-20744delinsCTGGCCTGACCCCAGAA (n.-98-20760_-98-20744delinsCTGGCCTGACCCCAGAA) n.5100_5116delinsCTGGCCTGACCCCAGAA n.5141_5157delinsCTGGCCTGACCCCAGAA | |
17 | g.43070935_43070950del | CA003106 | BRCA1 | c.4961_4976del (p.Ser1654Ter) c.4964_4979del (p.Ser1655Ter) c.4838_4853del (p.Ser1613Ter) c.4958_4973del (p.Ser1653Ter) c.4886_4901del (p.Ser1629Ter) c.1652_1667del (p.Ser551Ter) c.1514_1529del (p.Ser505Ter) c.4076_4091del (p.Ser1359Ter) c.4841_4856del (p.Ser1614Ter) c.5030_5045del (p.Ser1677Ter) c.4823_4838del (p.Ser1608Ter) c.1526_1541del (p.Ser509Ter) c.1571_1586del (p.Ser524Ter) c.5027_5042del (p.Ser1676Ter) c.1351_1366del c.1538_1553del (p.Ser513Ter) c.*4747_*4762del (n.*4747_*4762del) n.117_132del c.1277_1292del (p.Ser426Ter) c.5-6999_5-6984del (n.5-6999_5-6984del) c.437_452del (p.Ser146Ter) c.-98-20760_-98-20745del (n.-98-20760_-98-20745del) n.5100_5115del n.5141_5156del | ClinVar dbSNP |
17 | g.43070937T>A | CA500231525 | BRCA1 | c.4974A>T (p.Pro1658=) c.4977A>T (p.Pro1659=) c.4851A>T (p.Pro1617=) c.4971A>T (p.Pro1657=) c.4899A>T (p.Pro1633=) c.1665A>T (p.Pro555=) c.1527A>T (p.Pro509=) c.4089A>T (p.Pro1363=) c.4854A>T (p.Pro1618=) c.5043A>T (p.Pro1681=) c.4836A>T (p.Pro1612=) c.1539A>T (p.Pro513=) c.1584A>T (p.Pro528=) c.5040A>T (p.Pro1680=) c.1364A>T c.1551A>T (p.Pro517=) c.*4760A>T (n.*4760A>T) n.130A>T c.1290A>T (p.Pro430=) c.5-6986A>T (n.5-6986A>T) c.450A>T (p.Pro150=) c.-98-20747A>T (n.-98-20747A>T) n.5113A>T n.5154A>T | ClinVar dbSNP |
17 | g.43070937T>C | CA500231526 | BRCA1 | c.4974A>G (p.Pro1658=) c.4977A>G (p.Pro1659=) c.4851A>G (p.Pro1617=) c.4971A>G (p.Pro1657=) c.4899A>G (p.Pro1633=) c.1665A>G (p.Pro555=) c.1527A>G (p.Pro509=) c.4089A>G (p.Pro1363=) c.4854A>G (p.Pro1618=) c.5043A>G (p.Pro1681=) c.4836A>G (p.Pro1612=) c.1539A>G (p.Pro513=) c.1584A>G (p.Pro528=) c.5040A>G (p.Pro1680=) c.1364A>G c.1551A>G (p.Pro517=) c.*4760A>G (n.*4760A>G) n.130A>G c.1290A>G (p.Pro430=) c.5-6986A>G (n.5-6986A>G) c.450A>G (p.Pro150=) c.-98-20747A>G (n.-98-20747A>G) n.5113A>G n.5154A>G | ClinVar dbSNP gnomAD v4 |
17 | g.43070937T>G | CA500231527 | BRCA1 | c.4974A>C (p.Pro1658=) c.4977A>C (p.Pro1659=) c.4851A>C (p.Pro1617=) c.4971A>C (p.Pro1657=) c.4899A>C (p.Pro1633=) c.1665A>C (p.Pro555=) c.1527A>C (p.Pro509=) c.4089A>C (p.Pro1363=) c.4854A>C (p.Pro1618=) c.5043A>C (p.Pro1681=) c.4836A>C (p.Pro1612=) c.1539A>C (p.Pro513=) c.1584A>C (p.Pro528=) c.5040A>C (p.Pro1680=) c.1364A>C c.1551A>C (p.Pro517=) c.*4760A>C (n.*4760A>C) n.130A>C c.1290A>C (p.Pro430=) c.5-6986A>C (n.5-6986A>C) c.450A>C (p.Pro150=) c.-98-20747A>C (n.-98-20747A>C) n.5113A>C n.5154A>C | ClinVar dbSNP |
17 | g.43070937T= | CA2260772744 | BRCA1 | c.4974A= (p.Pro1658=) c.4977A= (p.Pro1659=) c.4851A= (p.Pro1617=) c.4971A= (p.Pro1657=) c.4899A= (p.Pro1633=) c.1665A= (p.Pro555=) c.1527A= (p.Pro509=) c.4089A= (p.Pro1363=) c.4854A= (p.Pro1618=) c.5043A= (p.Pro1681=) c.4836A= (p.Pro1612=) c.1539A= (p.Pro513=) c.1584A= (p.Pro528=) c.5040A= (p.Pro1680=) c.1364A= c.1551A= (p.Pro517=) c.*4760A= (n.*4760A=) n.130A= c.1290A= (p.Pro430=) c.5-6986A= (n.5-6986A=) c.450A= (p.Pro150=) c.-98-20747A= (n.-98-20747A=) n.5113A= n.5154A= | |
17 | g.43070937_43070938delinsTG | CA2260772743 | BRCA1 | c.4973_4974delinsCA (p.Pro1658=) c.4976_4977delinsCA (p.Pro1659=) c.4850_4851delinsCA (p.Pro1617=) c.4970_4971delinsCA (p.Pro1657=) c.4898_4899delinsCA (p.Pro1633=) c.1664_1665delinsCA (p.Pro555=) c.1526_1527delinsCA (p.Pro509=) c.4088_4089delinsCA (p.Pro1363=) c.4853_4854delinsCA (p.Pro1618=) c.5042_5043delinsCA (p.Pro1681=) c.4835_4836delinsCA (p.Pro1612=) c.1538_1539delinsCA (p.Pro513=) c.1583_1584delinsCA (p.Pro528=) c.5039_5040delinsCA (p.Pro1680=) c.1363_1364delinsCA c.1550_1551delinsCA (p.Pro517=) c.*4759_*4760delinsCA (n.*4759_*4760delinsCA) n.129_130delinsCA c.1289_1290delinsCA (p.Pro430=) c.5-6987_5-6986delinsCA (n.5-6987_5-6986delinsCA) c.449_450delinsCA (p.Pro150=) c.-98-20748_-98-20747delinsCA (n.-98-20748_-98-20747delinsCA) n.5112_5113delinsCA n.5153_5154delinsCA | |
17 | g.43070938G>A | CA10591573 | BRCA1 | c.4973C>T (p.Pro1658Leu) c.4976C>T (p.Pro1659Leu) c.4850C>T (p.Pro1617Leu) c.4970C>T (p.Pro1657Leu) c.4898C>T (p.Pro1633Leu) c.1664C>T (p.Pro555Leu) c.1526C>T (p.Pro509Leu) c.4088C>T (p.Pro1363Leu) c.4853C>T (p.Pro1618Leu) c.5042C>T (p.Pro1681Leu) c.4835C>T (p.Pro1612Leu) c.1538C>T (p.Pro513Leu) c.1583C>T (p.Pro528Leu) c.5039C>T (p.Pro1680Leu) c.1363C>T c.1550C>T (p.Pro517Leu) c.*4759C>T (n.*4759C>T) n.129C>T c.1289C>T (p.Pro430Leu) c.5-6987C>T (n.5-6987C>T) c.449C>T (p.Pro150Leu) c.-98-20748C>T (n.-98-20748C>T) n.5112C>T n.5153C>T | ClinVar dbSNP |
17 | g.43070938G>C | CA10591574 | BRCA1 | c.4973C>G (p.Pro1658Arg) c.4976C>G (p.Pro1659Arg) c.4850C>G (p.Pro1617Arg) c.4970C>G (p.Pro1657Arg) c.4898C>G (p.Pro1633Arg) c.1664C>G (p.Pro555Arg) c.1526C>G (p.Pro509Arg) c.4088C>G (p.Pro1363Arg) c.4853C>G (p.Pro1618Arg) c.5042C>G (p.Pro1681Arg) c.4835C>G (p.Pro1612Arg) c.1538C>G (p.Pro513Arg) c.1583C>G (p.Pro528Arg) c.5039C>G (p.Pro1680Arg) c.1363C>G c.1550C>G (p.Pro517Arg) c.*4759C>G (n.*4759C>G) n.129C>G c.1289C>G (p.Pro430Arg) c.5-6987C>G (n.5-6987C>G) c.449C>G (p.Pro150Arg) c.-98-20748C>G (n.-98-20748C>G) n.5112C>G n.5153C>G | ClinVar dbSNP |
17 | g.43070938G= | CA2260772745 | BRCA1 | c.4973C= (p.Pro1658=) c.4976C= (p.Pro1659=) c.4850C= (p.Pro1617=) c.4970C= (p.Pro1657=) c.4898C= (p.Pro1633=) c.1664C= (p.Pro555=) c.1526C= (p.Pro509=) c.4088C= (p.Pro1363=) c.4853C= (p.Pro1618=) c.5042C= (p.Pro1681=) c.4835C= (p.Pro1612=) c.1538C= (p.Pro513=) c.1583C= (p.Pro528=) c.5039C= (p.Pro1680=) c.1363C= c.1550C= (p.Pro517=) c.*4759C= (n.*4759C=) n.129C= c.1289C= (p.Pro430=) c.5-6987C= (n.5-6987C=) c.449C= (p.Pro150=) c.-98-20748C= (n.-98-20748C=) n.5112C= n.5153C= | |
17 | g.43070938G>T | CA10591575 | BRCA1 | c.4973C>A (p.Pro1658Gln) c.4976C>A (p.Pro1659Gln) c.4850C>A (p.Pro1617Gln) c.4970C>A (p.Pro1657Gln) c.4898C>A (p.Pro1633Gln) c.1664C>A (p.Pro555Gln) c.1526C>A (p.Pro509Gln) c.4088C>A (p.Pro1363Gln) c.4853C>A (p.Pro1618Gln) c.5042C>A (p.Pro1681Gln) c.4835C>A (p.Pro1612Gln) c.1538C>A (p.Pro513Gln) c.1583C>A (p.Pro528Gln) c.5039C>A (p.Pro1680Gln) c.1363C>A c.1550C>A (p.Pro517Gln) c.*4759C>A (n.*4759C>A) n.129C>A c.1289C>A (p.Pro430Gln) c.5-6987C>A (n.5-6987C>A) c.449C>A (p.Pro150Gln) c.-98-20748C>A (n.-98-20748C>A) n.5112C>A n.5153C>A | ClinVar dbSNP |
17 | g.43070941dup | CA2839538259 | BRCA1 | c.4973dup (p.Glu1659ArgfsTer19) c.4976dup (p.Glu1660ArgfsTer19) c.4850dup (p.Glu1618ArgfsTer19) c.4970dup (p.Glu1658ArgfsTer19) c.4898dup (p.Glu1634ArgfsTer19) c.1664dup (p.Glu556ArgfsTer19) c.1526dup (p.Glu510ArgfsTer19) c.4088dup (p.Glu1364ArgfsTer19) c.4853dup (p.Glu1619ArgfsTer19) c.5042dup (p.Glu1682ArgfsTer19) c.4835dup (p.Glu1613ArgfsTer19) c.1538dup (p.Glu514ArgfsTer19) c.1583dup (p.Glu529ArgfsTer15) c.5039dup (p.Glu1681ArgfsTer19) c.1363dup c.1550dup (p.Glu518ArgfsTer19) c.*4759dup (n.*4759dup) n.129dup c.1289dup (p.Glu431ArgfsTer19) c.5-6987dup (n.5-6987dup) c.449dup (p.Glu151ArgfsTer19) c.-98-20748dup (n.-98-20748dup) n.5112dup n.5153dup | |
17 | g.43070941del | CA10585909 | BRCA1 | c.4973del (p.Pro1658GlnfsTer18) c.4976del (p.Pro1659GlnfsTer18) c.4850del (p.Pro1617GlnfsTer18) c.4970del (p.Pro1657GlnfsTer18) c.4898del (p.Pro1633GlnfsTer18) c.1664del (p.Pro555GlnfsTer18) c.1526del (p.Pro509GlnfsTer18) c.4088del (p.Pro1363GlnfsTer18) c.4853del (p.Pro1618GlnfsTer18) c.5042del (p.Pro1681GlnfsTer18) c.4835del (p.Pro1612GlnfsTer18) c.1538del (p.Pro513GlnfsTer18) c.1583del (p.Pro528GlnfsTer5) c.5039del (p.Pro1680GlnfsTer18) c.1363del c.1550del (p.Pro517GlnfsTer18) c.*4759del (n.*4759del) n.129del c.1289del (p.Pro430GlnfsTer18) c.5-6987del (n.5-6987del) c.449del (p.Pro150GlnfsTer18) c.-98-20748del (n.-98-20748del) n.5112del n.5153del | ClinVar dbSNP |
17 | g.43070939G>A | CA10591576 | BRCA1 | c.4972C>T (p.Pro1658Ser) c.4975C>T (p.Pro1659Ser) c.4849C>T (p.Pro1617Ser) c.4969C>T (p.Pro1657Ser) c.4897C>T (p.Pro1633Ser) c.1663C>T (p.Pro555Ser) c.1525C>T (p.Pro509Ser) c.4087C>T (p.Pro1363Ser) c.4852C>T (p.Pro1618Ser) c.5041C>T (p.Pro1681Ser) c.4834C>T (p.Pro1612Ser) c.1537C>T (p.Pro513Ser) c.1582C>T (p.Pro528Ser) c.5038C>T (p.Pro1680Ser) c.1362C>T c.1549C>T (p.Pro517Ser) c.*4758C>T (n.*4758C>T) n.128C>T c.1288C>T (p.Pro430Ser) c.5-6988C>T (n.5-6988C>T) c.448C>T (p.Pro150Ser) c.-98-20749C>T (n.-98-20749C>T) n.5111C>T n.5152C>T | ClinVar dbSNP |
17 | g.43070939G>C | CA10591577 | BRCA1 | c.4972C>G (p.Pro1658Ala) c.4975C>G (p.Pro1659Ala) c.4849C>G (p.Pro1617Ala) c.4969C>G (p.Pro1657Ala) c.4897C>G (p.Pro1633Ala) c.1663C>G (p.Pro555Ala) c.1525C>G (p.Pro509Ala) c.4087C>G (p.Pro1363Ala) c.4852C>G (p.Pro1618Ala) c.5041C>G (p.Pro1681Ala) c.4834C>G (p.Pro1612Ala) c.1537C>G (p.Pro513Ala) c.1582C>G (p.Pro528Ala) c.5038C>G (p.Pro1680Ala) c.1362C>G c.1549C>G (p.Pro517Ala) c.*4758C>G (n.*4758C>G) n.128C>G c.1288C>G (p.Pro430Ala) c.5-6988C>G (n.5-6988C>G) c.448C>G (p.Pro150Ala) c.-98-20749C>G (n.-98-20749C>G) n.5111C>G n.5152C>G | ClinVar dbSNP gnomAD v4 |
17 | g.43070939G= | CA2260772746 | BRCA1 | c.4972C= (p.Pro1658=) c.4975C= (p.Pro1659=) c.4849C= (p.Pro1617=) c.4969C= (p.Pro1657=) c.4897C= (p.Pro1633=) c.1663C= (p.Pro555=) c.1525C= (p.Pro509=) c.4087C= (p.Pro1363=) c.4852C= (p.Pro1618=) c.5041C= (p.Pro1681=) c.4834C= (p.Pro1612=) c.1537C= (p.Pro513=) c.1582C= (p.Pro528=) c.5038C= (p.Pro1680=) c.1362C= c.1549C= (p.Pro517=) c.*4758C= (n.*4758C=) n.128C= c.1288C= (p.Pro430=) c.5-6988C= (n.5-6988C=) c.448C= (p.Pro150=) c.-98-20749C= (n.-98-20749C=) n.5111C= n.5152C= | |
17 | g.43070939G>T | CA10591578 | BRCA1 | c.4972C>A (p.Pro1658Thr) c.4975C>A (p.Pro1659Thr) c.4849C>A (p.Pro1617Thr) c.4969C>A (p.Pro1657Thr) c.4897C>A (p.Pro1633Thr) c.1663C>A (p.Pro555Thr) c.1525C>A (p.Pro509Thr) c.4087C>A (p.Pro1363Thr) c.4852C>A (p.Pro1618Thr) c.5041C>A (p.Pro1681Thr) c.4834C>A (p.Pro1612Thr) c.1537C>A (p.Pro513Thr) c.1582C>A (p.Pro528Thr) c.5038C>A (p.Pro1680Thr) c.1362C>A c.1549C>A (p.Pro517Thr) c.*4758C>A (n.*4758C>A) n.128C>A c.1288C>A (p.Pro430Thr) c.5-6988C>A (n.5-6988C>A) c.448C>A (p.Pro150Thr) c.-98-20749C>A (n.-98-20749C>A) n.5111C>A n.5152C>A | ClinVar dbSNP |
17 | g.43070940G>A | CA500231533 | BRCA1 | c.4971C>T (p.Thr1657=) c.4974C>T (p.Thr1658=) c.4848C>T (p.Thr1616=) c.4968C>T (p.Thr1656=) c.4896C>T (p.Thr1632=) c.1662C>T (p.Thr554=) c.1524C>T (p.Thr508=) c.4086C>T (p.Thr1362=) c.4851C>T (p.Thr1617=) c.5040C>T (p.Thr1680=) c.4833C>T (p.Thr1611=) c.1536C>T (p.Thr512=) c.1581C>T (p.Thr527=) c.5037C>T (p.Thr1679=) c.1361C>T c.1548C>T (p.Thr516=) c.*4757C>T (n.*4757C>T) n.127C>T c.1287C>T (p.Thr429=) c.5-6989C>T (n.5-6989C>T) c.447C>T (p.Thr149=) c.-98-20750C>T (n.-98-20750C>T) n.5110C>T n.5151C>T | ClinVar dbSNP gnomAD v4 |
17 | g.43070940G>C | CA500231534 | BRCA1 | c.4971C>G (p.Thr1657=) c.4974C>G (p.Thr1658=) c.4848C>G (p.Thr1616=) c.4968C>G (p.Thr1656=) c.4896C>G (p.Thr1632=) c.1662C>G (p.Thr554=) c.1524C>G (p.Thr508=) c.4086C>G (p.Thr1362=) c.4851C>G (p.Thr1617=) c.5040C>G (p.Thr1680=) c.4833C>G (p.Thr1611=) c.1536C>G (p.Thr512=) c.1581C>G (p.Thr527=) c.5037C>G (p.Thr1679=) c.1361C>G c.1548C>G (p.Thr516=) c.*4757C>G (n.*4757C>G) n.127C>G c.1287C>G (p.Thr429=) c.5-6989C>G (n.5-6989C>G) c.447C>G (p.Thr149=) c.-98-20750C>G (n.-98-20750C>G) n.5110C>G n.5151C>G | dbSNP |
17 | g.43070940G= | CA2260772747 | BRCA1 | c.4971C= (p.Thr1657=) c.4974C= (p.Thr1658=) c.4848C= (p.Thr1616=) c.4968C= (p.Thr1656=) c.4896C= (p.Thr1632=) c.1662C= (p.Thr554=) c.1524C= (p.Thr508=) c.4086C= (p.Thr1362=) c.4851C= (p.Thr1617=) c.5040C= (p.Thr1680=) c.4833C= (p.Thr1611=) c.1536C= (p.Thr512=) c.1581C= (p.Thr527=) c.5037C= (p.Thr1679=) c.1361C= c.1548C= (p.Thr516=) c.*4757C= (n.*4757C=) n.127C= c.1287C= (p.Thr429=) c.5-6989C= (n.5-6989C=) c.447C= (p.Thr149=) c.-98-20750C= (n.-98-20750C=) n.5110C= n.5151C= | |
17 | g.43070940G>T | CA500231535 | BRCA1 | c.4971C>A (p.Thr1657=) c.4974C>A (p.Thr1658=) c.4848C>A (p.Thr1616=) c.4968C>A (p.Thr1656=) c.4896C>A (p.Thr1632=) c.1662C>A (p.Thr554=) c.1524C>A (p.Thr508=) c.4086C>A (p.Thr1362=) c.4851C>A (p.Thr1617=) c.5040C>A (p.Thr1680=) c.4833C>A (p.Thr1611=) c.1536C>A (p.Thr512=) c.1581C>A (p.Thr527=) c.5037C>A (p.Thr1679=) c.1361C>A c.1548C>A (p.Thr516=) c.*4757C>A (n.*4757C>A) n.127C>A c.1287C>A (p.Thr429=) c.5-6989C>A (n.5-6989C>A) c.447C>A (p.Thr149=) c.-98-20750C>A (n.-98-20750C>A) n.5110C>A n.5151C>A | dbSNP |
17 | g.43070941G>A | CA10591579 | BRCA1 | c.4970C>T (p.Thr1657Ile) c.4973C>T (p.Thr1658Ile) c.4847C>T (p.Thr1616Ile) c.4967C>T (p.Thr1656Ile) c.4895C>T (p.Thr1632Ile) c.1661C>T (p.Thr554Ile) c.1523C>T (p.Thr508Ile) c.4085C>T (p.Thr1362Ile) c.4850C>T (p.Thr1617Ile) c.5039C>T (p.Thr1680Ile) c.4832C>T (p.Thr1611Ile) c.1535C>T (p.Thr512Ile) c.1580C>T (p.Thr527Ile) c.5036C>T (p.Thr1679Ile) c.1360C>T c.1547C>T (p.Thr516Ile) c.*4756C>T (n.*4756C>T) n.126C>T c.1286C>T (p.Thr429Ile) c.5-6990C>T (n.5-6990C>T) c.446C>T (p.Thr149Ile) c.-98-20751C>T (n.-98-20751C>T) n.5109C>T n.5150C>T | ClinVar dbSNP |
17 | g.43070941G>C | CA10591580 | BRCA1 | c.4970C>G (p.Thr1657Ser) c.4973C>G (p.Thr1658Ser) c.4847C>G (p.Thr1616Ser) c.4967C>G (p.Thr1656Ser) c.4895C>G (p.Thr1632Ser) c.1661C>G (p.Thr554Ser) c.1523C>G (p.Thr508Ser) c.4085C>G (p.Thr1362Ser) c.4850C>G (p.Thr1617Ser) c.5039C>G (p.Thr1680Ser) c.4832C>G (p.Thr1611Ser) c.1535C>G (p.Thr512Ser) c.1580C>G (p.Thr527Ser) c.5036C>G (p.Thr1679Ser) c.1360C>G c.1547C>G (p.Thr516Ser) c.*4756C>G (n.*4756C>G) n.126C>G c.1286C>G (p.Thr429Ser) c.5-6990C>G (n.5-6990C>G) c.446C>G (p.Thr149Ser) c.-98-20751C>G (n.-98-20751C>G) n.5109C>G n.5150C>G | ClinVar dbSNP |
17 | g.43070941G= | CA2260772748 | BRCA1 | c.4970C= (p.Thr1657=) c.4973C= (p.Thr1658=) c.4847C= (p.Thr1616=) c.4967C= (p.Thr1656=) c.4895C= (p.Thr1632=) c.1661C= (p.Thr554=) c.1523C= (p.Thr508=) c.4085C= (p.Thr1362=) c.4850C= (p.Thr1617=) c.5039C= (p.Thr1680=) c.4832C= (p.Thr1611=) c.1535C= (p.Thr512=) c.1580C= (p.Thr527=) c.5036C= (p.Thr1679=) c.1360C= c.1547C= (p.Thr516=) c.*4756C= (n.*4756C=) n.126C= c.1286C= (p.Thr429=) c.5-6990C= (n.5-6990C=) c.446C= (p.Thr149=) c.-98-20751C= (n.-98-20751C=) n.5109C= n.5150C= | |
17 | g.43070941G>T | CA10591581 | BRCA1 | c.4970C>A (p.Thr1657Asn) c.4973C>A (p.Thr1658Asn) c.4847C>A (p.Thr1616Asn) c.4967C>A (p.Thr1656Asn) c.4895C>A (p.Thr1632Asn) c.1661C>A (p.Thr554Asn) c.1523C>A (p.Thr508Asn) c.4085C>A (p.Thr1362Asn) c.4850C>A (p.Thr1617Asn) c.5039C>A (p.Thr1680Asn) c.4832C>A (p.Thr1611Asn) c.1535C>A (p.Thr512Asn) c.1580C>A (p.Thr527Asn) c.5036C>A (p.Thr1679Asn) c.1360C>A c.1547C>A (p.Thr516Asn) c.*4756C>A (n.*4756C>A) n.126C>A c.1286C>A (p.Thr429Asn) c.5-6990C>A (n.5-6990C>A) c.446C>A (p.Thr149Asn) c.-98-20751C>A (n.-98-20751C>A) n.5109C>A n.5150C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.43070941_43070942delinsGT | CA2260772749 | BRCA1 | c.4969_4970delinsAC (p.Thr1657=) c.4972_4973delinsAC (p.Thr1658=) c.4846_4847delinsAC (p.Thr1616=) c.4966_4967delinsAC (p.Thr1656=) c.4894_4895delinsAC (p.Thr1632=) c.1660_1661delinsAC (p.Thr554=) c.1522_1523delinsAC (p.Thr508=) c.4084_4085delinsAC (p.Thr1362=) c.4849_4850delinsAC (p.Thr1617=) c.5038_5039delinsAC (p.Thr1680=) c.4831_4832delinsAC (p.Thr1611=) c.1534_1535delinsAC (p.Thr512=) c.1579_1580delinsAC (p.Thr527=) c.5035_5036delinsAC (p.Thr1679=) c.1359_1360delinsAC c.1546_1547delinsAC (p.Thr516=) c.*4755_*4756delinsAC (n.*4755_*4756delinsAC) n.125_126delinsAC c.1285_1286delinsAC (p.Thr429=) c.5-6991_5-6990delinsAC (n.5-6991_5-6990delinsAC) c.445_446delinsAC (p.Thr149=) c.-98-20752_-98-20751delinsAC (n.-98-20752_-98-20751delinsAC) n.5108_5109delinsAC n.5149_5150delinsAC | |
17 | g.43070942del | CA16616883 | BRCA1 | c.4969del (p.Thr1657ProfsTer19) c.4972del (p.Thr1658ProfsTer19) c.4846del (p.Thr1616ProfsTer19) c.4966del (p.Thr1656ProfsTer19) c.4894del (p.Thr1632ProfsTer19) c.1660del (p.Thr554ProfsTer19) c.1522del (p.Thr508ProfsTer19) c.4084del (p.Thr1362ProfsTer19) c.4849del (p.Thr1617ProfsTer19) c.5038del (p.Thr1680ProfsTer19) c.4831del (p.Thr1611ProfsTer19) c.1534del (p.Thr512ProfsTer19) c.1579del (p.Thr527ProfsTer6) c.5035del (p.Thr1679ProfsTer19) c.1359del c.1546del (p.Thr516ProfsTer19) c.*4755del (n.*4755del) n.125del c.1285del (p.Thr429ProfsTer19) c.5-6991del (n.5-6991del) c.445del (p.Thr149ProfsTer19) c.-98-20752del (n.-98-20752del) n.5108del n.5149del | ClinVar dbSNP |
17 | g.43070942T>A | CA10591582 | BRCA1 | c.4969A>T (p.Thr1657Ser) c.4972A>T (p.Thr1658Ser) c.4846A>T (p.Thr1616Ser) c.4966A>T (p.Thr1656Ser) c.4894A>T (p.Thr1632Ser) c.1660A>T (p.Thr554Ser) c.1522A>T (p.Thr508Ser) c.4084A>T (p.Thr1362Ser) c.4849A>T (p.Thr1617Ser) c.5038A>T (p.Thr1680Ser) c.4831A>T (p.Thr1611Ser) c.1534A>T (p.Thr512Ser) c.1579A>T (p.Thr527Ser) c.5035A>T (p.Thr1679Ser) c.1359A>T c.1546A>T (p.Thr516Ser) c.*4755A>T (n.*4755A>T) n.125A>T c.1285A>T (p.Thr429Ser) c.5-6991A>T (n.5-6991A>T) c.445A>T (p.Thr149Ser) c.-98-20752A>T (n.-98-20752A>T) n.5108A>T n.5149A>T | ClinVar dbSNP |
17 | g.43070942T>C | CA10591583 | BRCA1 | c.4969A>G (p.Thr1657Ala) c.4972A>G (p.Thr1658Ala) c.4846A>G (p.Thr1616Ala) c.4966A>G (p.Thr1656Ala) c.4894A>G (p.Thr1632Ala) c.1660A>G (p.Thr554Ala) c.1522A>G (p.Thr508Ala) c.4084A>G (p.Thr1362Ala) c.4849A>G (p.Thr1617Ala) c.5038A>G (p.Thr1680Ala) c.4831A>G (p.Thr1611Ala) c.1534A>G (p.Thr512Ala) c.1579A>G (p.Thr527Ala) c.5035A>G (p.Thr1679Ala) c.1359A>G c.1546A>G (p.Thr516Ala) c.*4755A>G (n.*4755A>G) n.125A>G c.1285A>G (p.Thr429Ala) c.5-6991A>G (n.5-6991A>G) c.445A>G (p.Thr149Ala) c.-98-20752A>G (n.-98-20752A>G) n.5108A>G n.5149A>G | ClinVar dbSNP |
17 | g.43070942T>G | CA10591584 | BRCA1 | c.4969A>C (p.Thr1657Pro) c.4972A>C (p.Thr1658Pro) c.4846A>C (p.Thr1616Pro) c.4966A>C (p.Thr1656Pro) c.4894A>C (p.Thr1632Pro) c.1660A>C (p.Thr554Pro) c.1522A>C (p.Thr508Pro) c.4084A>C (p.Thr1362Pro) c.4849A>C (p.Thr1617Pro) c.5038A>C (p.Thr1680Pro) c.4831A>C (p.Thr1611Pro) c.1534A>C (p.Thr512Pro) c.1579A>C (p.Thr527Pro) c.5035A>C (p.Thr1679Pro) c.1359A>C c.1546A>C (p.Thr516Pro) c.*4755A>C (n.*4755A>C) n.125A>C c.1285A>C (p.Thr429Pro) c.5-6991A>C (n.5-6991A>C) c.445A>C (p.Thr149Pro) c.-98-20752A>C (n.-98-20752A>C) n.5108A>C n.5149A>C | dbSNP |
17 | g.43070942T= | CA2260772750 | BRCA1 | c.4969A= (p.Thr1657=) c.4972A= (p.Thr1658=) c.4846A= (p.Thr1616=) c.4966A= (p.Thr1656=) c.4894A= (p.Thr1632=) c.1660A= (p.Thr554=) c.1522A= (p.Thr508=) c.4084A= (p.Thr1362=) c.4849A= (p.Thr1617=) c.5038A= (p.Thr1680=) c.4831A= (p.Thr1611=) c.1534A= (p.Thr512=) c.1579A= (p.Thr527=) c.5035A= (p.Thr1679=) c.1359A= c.1546A= (p.Thr516=) c.*4755A= (n.*4755A=) n.125A= c.1285A= (p.Thr429=) c.5-6991A= (n.5-6991A=) c.445A= (p.Thr149=) c.-98-20752A= (n.-98-20752A=) n.5108A= n.5149A= | |
17 | g.43070943C>A | CA500231542 | BRCA1 | c.4968G>T (p.Leu1656=) c.4971G>T (p.Leu1657=) c.4845G>T (p.Leu1615=) c.4965G>T (p.Leu1655=) c.4893G>T (p.Leu1631=) c.1659G>T (p.Leu553=) c.1521G>T (p.Leu507=) c.4083G>T (p.Leu1361=) c.4848G>T (p.Leu1616=) c.5037G>T (p.Leu1679=) c.4830G>T (p.Leu1610=) c.1533G>T (p.Leu511=) c.1578G>T (p.Leu526=) c.5034G>T (p.Leu1678=) c.1358G>T c.1545G>T (p.Leu515=) c.*4754G>T (n.*4754G>T) n.124G>T c.1284G>T (p.Leu428=) c.5-6992G>T (n.5-6992G>T) c.444G>T (p.Leu148=) c.-98-20753G>T (n.-98-20753G>T) n.5107G>T n.5148G>T | ClinVar dbSNP |
17 | g.43070943C= | CA2260772751 | BRCA1 | c.4968G= (p.Leu1656=) c.4971G= (p.Leu1657=) c.4845G= (p.Leu1615=) c.4965G= (p.Leu1655=) c.4893G= (p.Leu1631=) c.1659G= (p.Leu553=) c.1521G= (p.Leu507=) c.4083G= (p.Leu1361=) c.4848G= (p.Leu1616=) c.5037G= (p.Leu1679=) c.4830G= (p.Leu1610=) c.1533G= (p.Leu511=) c.1578G= (p.Leu526=) c.5034G= (p.Leu1678=) c.1358G= c.1545G= (p.Leu515=) c.*4754G= (n.*4754G=) n.124G= c.1284G= (p.Leu428=) c.5-6992G= (n.5-6992G=) c.444G= (p.Leu148=) c.-98-20753G= (n.-98-20753G=) n.5107G= n.5148G= | |
17 | g.43070943C>G | CA348025 | BRCA1 | c.4968G>C (p.Leu1656=) c.4971G>C (p.Leu1657=) c.4845G>C (p.Leu1615=) c.4965G>C (p.Leu1655=) c.4893G>C (p.Leu1631=) c.1659G>C (p.Leu553=) c.1521G>C (p.Leu507=) c.4083G>C (p.Leu1361=) c.4848G>C (p.Leu1616=) c.5037G>C (p.Leu1679=) c.4830G>C (p.Leu1610=) c.1533G>C (p.Leu511=) c.1578G>C (p.Leu526=) c.5034G>C (p.Leu1678=) c.1358G>C c.1545G>C (p.Leu515=) c.*4754G>C (n.*4754G>C) n.124G>C c.1284G>C (p.Leu428=) c.5-6992G>C (n.5-6992G>C) c.444G>C (p.Leu148=) c.-98-20753G>C (n.-98-20753G>C) n.5107G>C n.5148G>C | ClinVar dbSNP gnomAD v4 |
17 | g.43070943C>T | CA003115 | BRCA1 | c.4968G>A (p.Leu1656=) c.4971G>A (p.Leu1657=) c.4845G>A (p.Leu1615=) c.4965G>A (p.Leu1655=) c.4893G>A (p.Leu1631=) c.1659G>A (p.Leu553=) c.1521G>A (p.Leu507=) c.4083G>A (p.Leu1361=) c.4848G>A (p.Leu1616=) c.5037G>A (p.Leu1679=) c.4830G>A (p.Leu1610=) c.1533G>A (p.Leu511=) c.1578G>A (p.Leu526=) c.5034G>A (p.Leu1678=) c.1358G>A c.1545G>A (p.Leu515=) c.*4754G>A (n.*4754G>A) n.124G>A c.1284G>A (p.Leu428=) c.5-6992G>A (n.5-6992G>A) c.444G>A (p.Leu148=) c.-98-20753G>A (n.-98-20753G>A) n.5107G>A n.5148G>A | ClinVar dbSNP |
17 | g.43070944A= | CA2260772753 | BRCA1 | c.4967T= (p.Leu1656=) c.4970T= (p.Leu1657=) c.4844T= (p.Leu1615=) c.4964T= (p.Leu1655=) c.4892T= (p.Leu1631=) c.1658T= (p.Leu553=) c.1520T= (p.Leu507=) c.4082T= (p.Leu1361=) c.4847T= (p.Leu1616=) c.5036T= (p.Leu1679=) c.4829T= (p.Leu1610=) c.1532T= (p.Leu511=) c.1577T= (p.Leu526=) c.5033T= (p.Leu1678=) c.1357T= c.1544T= (p.Leu515=) c.*4753T= (n.*4753T=) n.123T= c.1283T= (p.Leu428=) c.5-6993T= (n.5-6993T=) c.443T= (p.Leu148=) c.-98-20754T= (n.-98-20754T=) n.5106T= n.5147T= | |
17 | g.43070944A>C | CA10591585 | BRCA1 | c.4967T>G (p.Leu1656Arg) c.4970T>G (p.Leu1657Arg) c.4844T>G (p.Leu1615Arg) c.4964T>G (p.Leu1655Arg) c.4892T>G (p.Leu1631Arg) c.1658T>G (p.Leu553Arg) c.1520T>G (p.Leu507Arg) c.4082T>G (p.Leu1361Arg) c.4847T>G (p.Leu1616Arg) c.5036T>G (p.Leu1679Arg) c.4829T>G (p.Leu1610Arg) c.1532T>G (p.Leu511Arg) c.1577T>G (p.Leu526Arg) c.5033T>G (p.Leu1678Arg) c.1357T>G c.1544T>G (p.Leu515Arg) c.*4753T>G (n.*4753T>G) n.123T>G c.1283T>G (p.Leu428Arg) c.5-6993T>G (n.5-6993T>G) c.443T>G (p.Leu148Arg) c.-98-20754T>G (n.-98-20754T>G) n.5106T>G n.5147T>G | ClinVar dbSNP |
17 | g.43070944A>G | CA10591586 | BRCA1 | c.4967T>C (p.Leu1656Pro) c.4970T>C (p.Leu1657Pro) c.4844T>C (p.Leu1615Pro) c.4964T>C (p.Leu1655Pro) c.4892T>C (p.Leu1631Pro) c.1658T>C (p.Leu553Pro) c.1520T>C (p.Leu507Pro) c.4082T>C (p.Leu1361Pro) c.4847T>C (p.Leu1616Pro) c.5036T>C (p.Leu1679Pro) c.4829T>C (p.Leu1610Pro) c.1532T>C (p.Leu511Pro) c.1577T>C (p.Leu526Pro) c.5033T>C (p.Leu1678Pro) c.1357T>C c.1544T>C (p.Leu515Pro) c.*4753T>C (n.*4753T>C) n.123T>C c.1283T>C (p.Leu428Pro) c.5-6993T>C (n.5-6993T>C) c.443T>C (p.Leu148Pro) c.-98-20754T>C (n.-98-20754T>C) n.5106T>C n.5147T>C | ClinVar dbSNP |
17 | g.43070944A>T | CA10591587 | BRCA1 | c.4967T>A (p.Leu1656Gln) c.4970T>A (p.Leu1657Gln) c.4844T>A (p.Leu1615Gln) c.4964T>A (p.Leu1655Gln) c.4892T>A (p.Leu1631Gln) c.1658T>A (p.Leu553Gln) c.1520T>A (p.Leu507Gln) c.4082T>A (p.Leu1361Gln) c.4847T>A (p.Leu1616Gln) c.5036T>A (p.Leu1679Gln) c.4829T>A (p.Leu1610Gln) c.1532T>A (p.Leu511Gln) c.1577T>A (p.Leu526Gln) c.5033T>A (p.Leu1678Gln) c.1357T>A c.1544T>A (p.Leu515Gln) c.*4753T>A (n.*4753T>A) n.123T>A c.1283T>A (p.Leu428Gln) c.5-6993T>A (n.5-6993T>A) c.443T>A (p.Leu148Gln) c.-98-20754T>A (n.-98-20754T>A) n.5106T>A n.5147T>A | ClinVar dbSNP |
17 | g.43070944_43070945delinsAG | CA2260772752 | BRCA1 | c.4966_4967delinsCT (p.Leu1656=) c.4969_4970delinsCT (p.Leu1657=) c.4843_4844delinsCT (p.Leu1615=) c.4963_4964delinsCT (p.Leu1655=) c.4891_4892delinsCT (p.Leu1631=) c.1657_1658delinsCT (p.Leu553=) c.1519_1520delinsCT (p.Leu507=) c.4081_4082delinsCT (p.Leu1361=) c.4846_4847delinsCT (p.Leu1616=) c.5035_5036delinsCT (p.Leu1679=) c.4828_4829delinsCT (p.Leu1610=) c.1531_1532delinsCT (p.Leu511=) c.1576_1577delinsCT (p.Leu526=) c.5032_5033delinsCT (p.Leu1678=) c.1356_1357delinsCT c.1543_1544delinsCT (p.Leu515=) c.*4752_*4753delinsCT (n.*4752_*4753delinsCT) n.122_123delinsCT c.1282_1283delinsCT (p.Leu428=) c.5-6994_5-6993delinsCT (n.5-6994_5-6993delinsCT) c.442_443delinsCT (p.Leu148=) c.-98-20755_-98-20754delinsCT (n.-98-20755_-98-20754delinsCT) n.5105_5106delinsCT n.5146_5147delinsCT | |
17 | g.43070945G>A | CA500231547 | BRCA1 | c.4966C>T (p.Leu1656=) c.4969C>T (p.Leu1657=) c.4843C>T (p.Leu1615=) c.4963C>T (p.Leu1655=) c.4891C>T (p.Leu1631=) c.1657C>T (p.Leu553=) c.1519C>T (p.Leu507=) c.4081C>T (p.Leu1361=) c.4846C>T (p.Leu1616=) c.5035C>T (p.Leu1679=) c.4828C>T (p.Leu1610=) c.1531C>T (p.Leu511=) c.1576C>T (p.Leu526=) c.5032C>T (p.Leu1678=) c.1356C>T c.1543C>T (p.Leu515=) c.*4752C>T (n.*4752C>T) n.122C>T c.1282C>T (p.Leu428=) c.5-6994C>T (n.5-6994C>T) c.442C>T (p.Leu148=) c.-98-20755C>T (n.-98-20755C>T) n.5105C>T n.5146C>T | ClinVar dbSNP |
17 | g.43070945G>C | CA10591588 | BRCA1 | c.4966C>G (p.Leu1656Val) c.4969C>G (p.Leu1657Val) c.4843C>G (p.Leu1615Val) c.4963C>G (p.Leu1655Val) c.4891C>G (p.Leu1631Val) c.1657C>G (p.Leu553Val) c.1519C>G (p.Leu507Val) c.4081C>G (p.Leu1361Val) c.4846C>G (p.Leu1616Val) c.5035C>G (p.Leu1679Val) c.4828C>G (p.Leu1610Val) c.1531C>G (p.Leu511Val) c.1576C>G (p.Leu526Val) c.5032C>G (p.Leu1678Val) c.1356C>G c.1543C>G (p.Leu515Val) c.*4752C>G (n.*4752C>G) n.122C>G c.1282C>G (p.Leu428Val) c.5-6994C>G (n.5-6994C>G) c.442C>G (p.Leu148Val) c.-98-20755C>G (n.-98-20755C>G) n.5105C>G n.5146C>G | ClinVar dbSNP |
17 | g.43070945G= | CA2260772754 | BRCA1 | c.4966C= (p.Leu1656=) c.4969C= (p.Leu1657=) c.4843C= (p.Leu1615=) c.4963C= (p.Leu1655=) c.4891C= (p.Leu1631=) c.1657C= (p.Leu553=) c.1519C= (p.Leu507=) c.4081C= (p.Leu1361=) c.4846C= (p.Leu1616=) c.5035C= (p.Leu1679=) c.4828C= (p.Leu1610=) c.1531C= (p.Leu511=) c.1576C= (p.Leu526=) c.5032C= (p.Leu1678=) c.1356C= c.1543C= (p.Leu515=) c.*4752C= (n.*4752C=) n.122C= c.1282C= (p.Leu428=) c.5-6994C= (n.5-6994C=) c.442C= (p.Leu148=) c.-98-20755C= (n.-98-20755C=) n.5105C= n.5146C= | |
17 | g.43070945G>T | CA10591589 | BRCA1 | c.4966C>A (p.Leu1656Met) c.4969C>A (p.Leu1657Met) c.4843C>A (p.Leu1615Met) c.4963C>A (p.Leu1655Met) c.4891C>A (p.Leu1631Met) c.1657C>A (p.Leu553Met) c.1519C>A (p.Leu507Met) c.4081C>A (p.Leu1361Met) c.4846C>A (p.Leu1616Met) c.5035C>A (p.Leu1679Met) c.4828C>A (p.Leu1610Met) c.1531C>A (p.Leu511Met) c.1576C>A (p.Leu526Met) c.5032C>A (p.Leu1678Met) c.1356C>A c.1543C>A (p.Leu515Met) c.*4752C>A (n.*4752C>A) n.122C>A c.1282C>A (p.Leu428Met) c.5-6994C>A (n.5-6994C>A) c.442C>A (p.Leu148Met) c.-98-20755C>A (n.-98-20755C>A) n.5105C>A n.5146C>A | ClinVar dbSNP |
17 | g.43070946del | CA10586605 | BRCA1 | c.4966del (p.Leu1656Ter) c.4969del (p.Leu1657Ter) c.4843del (p.Leu1615Ter) c.4963del (p.Leu1655Ter) c.4891del (p.Leu1631Ter) c.1657del (p.Leu553Ter) c.1519del (p.Leu507Ter) c.4081del (p.Leu1361Ter) c.4846del (p.Leu1616Ter) c.5035del (p.Leu1679Ter) c.4828del (p.Leu1610Ter) c.1531del (p.Leu511Ter) c.1576del (p.Leu526Ter) c.5032del (p.Leu1678Ter) c.1356del c.1543del (p.Leu515Ter) c.*4752del (n.*4752del) n.122del c.1282del (p.Leu428Ter) c.5-6994del (n.5-6994del) c.442del (p.Leu148Ter) c.-98-20755del (n.-98-20755del) n.5105del n.5146del | ClinVar dbSNP |
17 | g.43070946G>A | CA500231549 | BRCA1 | c.4965C>T (p.Gly1655=) c.4968C>T (p.Gly1656=) c.4842C>T (p.Gly1614=) c.4962C>T (p.Gly1654=) c.4890C>T (p.Gly1630=) c.1656C>T (p.Gly552=) c.1518C>T (p.Gly506=) c.4080C>T (p.Gly1360=) c.4845C>T (p.Gly1615=) c.5034C>T (p.Gly1678=) c.4827C>T (p.Gly1609=) c.1530C>T (p.Gly510=) c.1575C>T (p.Gly525=) c.5031C>T (p.Gly1677=) c.1355C>T c.1542C>T (p.Gly514=) c.*4751C>T (n.*4751C>T) n.121C>T c.1281C>T (p.Gly427=) c.5-6995C>T (n.5-6995C>T) c.441C>T (p.Gly147=) c.-98-20756C>T (n.-98-20756C>T) n.5104C>T n.5145C>T | ClinVar dbSNP gnomAD v4 |
17 | g.43070946G>C | CA500231550 | BRCA1 | c.4965C>G (p.Gly1655=) c.4968C>G (p.Gly1656=) c.4842C>G (p.Gly1614=) c.4962C>G (p.Gly1654=) c.4890C>G (p.Gly1630=) c.1656C>G (p.Gly552=) c.1518C>G (p.Gly506=) c.4080C>G (p.Gly1360=) c.4845C>G (p.Gly1615=) c.5034C>G (p.Gly1678=) c.4827C>G (p.Gly1609=) c.1530C>G (p.Gly510=) c.1575C>G (p.Gly525=) c.5031C>G (p.Gly1677=) c.1355C>G c.1542C>G (p.Gly514=) c.*4751C>G (n.*4751C>G) n.121C>G c.1281C>G (p.Gly427=) c.5-6995C>G (n.5-6995C>G) c.441C>G (p.Gly147=) c.-98-20756C>G (n.-98-20756C>G) n.5104C>G n.5145C>G | ClinVar dbSNP gnomAD v4 |
17 | g.43070946G= | CA2260772755 | BRCA1 | c.4965C= (p.Gly1655=) c.4968C= (p.Gly1656=) c.4842C= (p.Gly1614=) c.4962C= (p.Gly1654=) c.4890C= (p.Gly1630=) c.1656C= (p.Gly552=) c.1518C= (p.Gly506=) c.4080C= (p.Gly1360=) c.4845C= (p.Gly1615=) c.5034C= (p.Gly1678=) c.4827C= (p.Gly1609=) c.1530C= (p.Gly510=) c.1575C= (p.Gly525=) c.5031C= (p.Gly1677=) c.1355C= c.1542C= (p.Gly514=) c.*4751C= (n.*4751C=) n.121C= c.1281C= (p.Gly427=) c.5-6995C= (n.5-6995C=) c.441C= (p.Gly147=) c.-98-20756C= (n.-98-20756C=) n.5104C= n.5145C= | |
17 | g.43070946G>T | CA500231551 | BRCA1 | c.4965C>A (p.Gly1655=) c.4968C>A (p.Gly1656=) c.4842C>A (p.Gly1614=) c.4962C>A (p.Gly1654=) c.4890C>A (p.Gly1630=) c.1656C>A (p.Gly552=) c.1518C>A (p.Gly506=) c.4080C>A (p.Gly1360=) c.4845C>A (p.Gly1615=) c.5034C>A (p.Gly1678=) c.4827C>A (p.Gly1609=) c.1530C>A (p.Gly510=) c.1575C>A (p.Gly525=) c.5031C>A (p.Gly1677=) c.1355C>A c.1542C>A (p.Gly514=) c.*4751C>A (n.*4751C>A) n.121C>A c.1281C>A (p.Gly427=) c.5-6995C>A (n.5-6995C>A) c.441C>A (p.Gly147=) c.-98-20756C>A (n.-98-20756C>A) n.5104C>A n.5145C>A | ClinVar dbSNP |
17 | g.43070947C>A | CA10591590 | BRCA1 | c.4964G>T (p.Gly1655Val) c.4967G>T (p.Gly1656Val) c.4841G>T (p.Gly1614Val) c.4961G>T (p.Gly1654Val) c.4889G>T (p.Gly1630Val) c.1655G>T (p.Gly552Val) c.1517G>T (p.Gly506Val) c.4079G>T (p.Gly1360Val) c.4844G>T (p.Gly1615Val) c.5033G>T (p.Gly1678Val) c.4826G>T (p.Gly1609Val) c.1529G>T (p.Gly510Val) c.1574G>T (p.Gly525Val) c.5030G>T (p.Gly1677Val) c.1354G>T c.1541G>T (p.Gly514Val) c.*4750G>T (n.*4750G>T) n.120G>T c.1280G>T (p.Gly427Val) c.5-6996G>T (n.5-6996G>T) c.440G>T (p.Gly147Val) c.-98-20757G>T (n.-98-20757G>T) n.5103G>T n.5144G>T | ClinVar dbSNP |
17 | g.43070947C= | CA2260772756 | BRCA1 | c.4964G= (p.Gly1655=) c.4967G= (p.Gly1656=) c.4841G= (p.Gly1614=) c.4961G= (p.Gly1654=) c.4889G= (p.Gly1630=) c.1655G= (p.Gly552=) c.1517G= (p.Gly506=) c.4079G= (p.Gly1360=) c.4844G= (p.Gly1615=) c.5033G= (p.Gly1678=) c.4826G= (p.Gly1609=) c.1529G= (p.Gly510=) c.1574G= (p.Gly525=) c.5030G= (p.Gly1677=) c.1354G= c.1541G= (p.Gly514=) c.*4750G= (n.*4750G=) n.120G= c.1280G= (p.Gly427=) c.5-6996G= (n.5-6996G=) c.440G= (p.Gly147=) c.-98-20757G= (n.-98-20757G=) n.5103G= n.5144G= | |
17 | g.43070947C>G | CA10591591 | BRCA1 | c.4964G>C (p.Gly1655Ala) c.4967G>C (p.Gly1656Ala) c.4841G>C (p.Gly1614Ala) c.4961G>C (p.Gly1654Ala) c.4889G>C (p.Gly1630Ala) c.1655G>C (p.Gly552Ala) c.1517G>C (p.Gly506Ala) c.4079G>C (p.Gly1360Ala) c.4844G>C (p.Gly1615Ala) c.5033G>C (p.Gly1678Ala) c.4826G>C (p.Gly1609Ala) c.1529G>C (p.Gly510Ala) c.1574G>C (p.Gly525Ala) c.5030G>C (p.Gly1677Ala) c.1354G>C c.1541G>C (p.Gly514Ala) c.*4750G>C (n.*4750G>C) n.120G>C c.1280G>C (p.Gly427Ala) c.5-6996G>C (n.5-6996G>C) c.440G>C (p.Gly147Ala) c.-98-20757G>C (n.-98-20757G>C) n.5103G>C n.5144G>C | ClinVar dbSNP |
17 | g.43070947C>T | CA003114 | BRCA1 | c.4964G>A (p.Gly1655Asp) c.4967G>A (p.Gly1656Asp) c.4841G>A (p.Gly1614Asp) c.4961G>A (p.Gly1654Asp) c.4889G>A (p.Gly1630Asp) c.1655G>A (p.Gly552Asp) c.1517G>A (p.Gly506Asp) c.4079G>A (p.Gly1360Asp) c.4844G>A (p.Gly1615Asp) c.5033G>A (p.Gly1678Asp) c.4826G>A (p.Gly1609Asp) c.1529G>A (p.Gly510Asp) c.1574G>A (p.Gly525Asp) c.5030G>A (p.Gly1677Asp) c.1354G>A c.1541G>A (p.Gly514Asp) c.*4750G>A (n.*4750G>A) n.120G>A c.1280G>A (p.Gly427Asp) c.5-6996G>A (n.5-6996G>A) c.440G>A (p.Gly147Asp) c.-98-20757G>A (n.-98-20757G>A) n.5103G>A n.5144G>A | ClinVar dbSNP |
17 | g.43070948C>A | CA10591592 | BRCA1 | c.4963G>T (p.Gly1655Cys) c.4966G>T (p.Gly1656Cys) c.4840G>T (p.Gly1614Cys) c.4960G>T (p.Gly1654Cys) c.4888G>T (p.Gly1630Cys) c.1654G>T (p.Gly552Cys) c.1516G>T (p.Gly506Cys) c.4078G>T (p.Gly1360Cys) c.4843G>T (p.Gly1615Cys) c.5032G>T (p.Gly1678Cys) c.4825G>T (p.Gly1609Cys) c.1528G>T (p.Gly510Cys) c.1573G>T (p.Gly525Cys) c.5029G>T (p.Gly1677Cys) c.1353G>T c.1540G>T (p.Gly514Cys) c.*4749G>T (n.*4749G>T) n.119G>T c.1279G>T (p.Gly427Cys) c.5-6997G>T (n.5-6997G>T) c.439G>T (p.Gly147Cys) c.-98-20758G>T (n.-98-20758G>T) n.5102G>T n.5143G>T | ClinVar dbSNP |
17 | g.43070948C= | CA2260772757 | BRCA1 | c.4963G= (p.Gly1655=) c.4966G= (p.Gly1656=) c.4840G= (p.Gly1614=) c.4960G= (p.Gly1654=) c.4888G= (p.Gly1630=) c.1654G= (p.Gly552=) c.1516G= (p.Gly506=) c.4078G= (p.Gly1360=) c.4843G= (p.Gly1615=) c.5032G= (p.Gly1678=) c.4825G= (p.Gly1609=) c.1528G= (p.Gly510=) c.1573G= (p.Gly525=) c.5029G= (p.Gly1677=) c.1353G= c.1540G= (p.Gly514=) c.*4749G= (n.*4749G=) n.119G= c.1279G= (p.Gly427=) c.5-6997G= (n.5-6997G=) c.439G= (p.Gly147=) c.-98-20758G= (n.-98-20758G=) n.5102G= n.5143G= | |
17 | g.43070948C>G | CA10591593 | BRCA1 | c.4963G>C (p.Gly1655Arg) c.4966G>C (p.Gly1656Arg) c.4840G>C (p.Gly1614Arg) c.4960G>C (p.Gly1654Arg) c.4888G>C (p.Gly1630Arg) c.1654G>C (p.Gly552Arg) c.1516G>C (p.Gly506Arg) c.4078G>C (p.Gly1360Arg) c.4843G>C (p.Gly1615Arg) c.5032G>C (p.Gly1678Arg) c.4825G>C (p.Gly1609Arg) c.1528G>C (p.Gly510Arg) c.1573G>C (p.Gly525Arg) c.5029G>C (p.Gly1677Arg) c.1353G>C c.1540G>C (p.Gly514Arg) c.*4749G>C (n.*4749G>C) n.119G>C c.1279G>C (p.Gly427Arg) c.5-6997G>C (n.5-6997G>C) c.439G>C (p.Gly147Arg) c.-98-20758G>C (n.-98-20758G>C) n.5102G>C n.5143G>C | ClinVar dbSNP |
17 | g.43070948C>T | CA10591594 | BRCA1 | c.4963G>A (p.Gly1655Ser) c.4966G>A (p.Gly1656Ser) c.4840G>A (p.Gly1614Ser) c.4960G>A (p.Gly1654Ser) c.4888G>A (p.Gly1630Ser) c.1654G>A (p.Gly552Ser) c.1516G>A (p.Gly506Ser) c.4078G>A (p.Gly1360Ser) c.4843G>A (p.Gly1615Ser) c.5032G>A (p.Gly1678Ser) c.4825G>A (p.Gly1609Ser) c.1528G>A (p.Gly510Ser) c.1573G>A (p.Gly525Ser) c.5029G>A (p.Gly1677Ser) c.1353G>A c.1540G>A (p.Gly514Ser) c.*4749G>A (n.*4749G>A) n.119G>A c.1279G>A (p.Gly427Ser) c.5-6997G>A (n.5-6997G>A) c.439G>A (p.Gly147Ser) c.-98-20758G>A (n.-98-20758G>A) n.5102G>A n.5143G>A | ClinVar dbSNP |
17 | g.43070948_43070966del | CA2499224388 | BRCA1 | c.4945_4963del (p.Met1649AlafsTer2) c.4948_4966del (p.Met1650AlafsTer2) c.4822_4840del (p.Met1608AlafsTer2) c.4942_4960del (p.Met1648AlafsTer2) c.4870_4888del (p.Met1624AlafsTer2) c.1636_1654del (p.Met546AlafsTer2) c.1498_1516del (p.Met500AlafsTer2) c.4060_4078del (p.Met1354AlafsTer2) c.4825_4843del (p.Met1609AlafsTer2) c.5014_5032del (p.Met1672AlafsTer2) c.4807_4825del (p.Met1603AlafsTer2) c.1510_1528del (p.Met504AlafsTer2) c.1555_1573del (p.Met519AlafsTer2) c.5011_5029del (p.Met1671AlafsTer2) c.1335_1353del c.1522_1540del (p.Met508AlafsTer2) c.*4731_*4749del (n.*4731_*4749del) n.101_119del c.1261_1279del (p.Met421AlafsTer2) c.5-7015_5-6997del (n.5-7015_5-6997del) c.421_439del (p.Met141AlafsTer2) c.-98-20776_-98-20758del (n.-98-20776_-98-20758del) n.5084_5102del n.5125_5143del | ClinVar dbSNP |
17 | g.43070949A= | CA2260772758 | BRCA1 | c.4962T= (p.Ser1654=) c.4965T= (p.Ser1655=) c.4839T= (p.Ser1613=) c.4959T= (p.Ser1653=) c.4887T= (p.Ser1629=) c.1653T= (p.Ser551=) c.1515T= (p.Ser505=) c.4077T= (p.Ser1359=) c.4842T= (p.Ser1614=) c.5031T= (p.Ser1677=) c.4824T= (p.Ser1608=) c.1527T= (p.Ser509=) c.1572T= (p.Ser524=) c.5028T= (p.Ser1676=) c.1352T= c.1539T= (p.Ser513=) c.*4748T= (n.*4748T=) n.118T= c.1278T= (p.Ser426=) c.5-6998T= (n.5-6998T=) c.438T= (p.Ser146=) c.-98-20759T= (n.-98-20759T=) n.5101T= n.5142T= | |
17 | g.43070949A>C | CA500231557 | BRCA1 | c.4962T>G (p.Ser1654=) c.4965T>G (p.Ser1655=) c.4839T>G (p.Ser1613=) c.4959T>G (p.Ser1653=) c.4887T>G (p.Ser1629=) c.1653T>G (p.Ser551=) c.1515T>G (p.Ser505=) c.4077T>G (p.Ser1359=) c.4842T>G (p.Ser1614=) c.5031T>G (p.Ser1677=) c.4824T>G (p.Ser1608=) c.1527T>G (p.Ser509=) c.1572T>G (p.Ser524=) c.5028T>G (p.Ser1676=) c.1352T>G c.1539T>G (p.Ser513=) c.*4748T>G (n.*4748T>G) n.118T>G c.1278T>G (p.Ser426=) c.5-6998T>G (n.5-6998T>G) c.438T>G (p.Ser146=) c.-98-20759T>G (n.-98-20759T>G) n.5101T>G n.5142T>G | ClinVar dbSNP |
17 | g.43070949A>G | CA500231559 | BRCA1 | c.4962T>C (p.Ser1654=) c.4965T>C (p.Ser1655=) c.4839T>C (p.Ser1613=) c.4959T>C (p.Ser1653=) c.4887T>C (p.Ser1629=) c.1653T>C (p.Ser551=) c.1515T>C (p.Ser505=) c.4077T>C (p.Ser1359=) c.4842T>C (p.Ser1614=) c.5031T>C (p.Ser1677=) c.4824T>C (p.Ser1608=) c.1527T>C (p.Ser509=) c.1572T>C (p.Ser524=) c.5028T>C (p.Ser1676=) c.1352T>C c.1539T>C (p.Ser513=) c.*4748T>C (n.*4748T>C) n.118T>C c.1278T>C (p.Ser426=) c.5-6998T>C (n.5-6998T>C) c.438T>C (p.Ser146=) c.-98-20759T>C (n.-98-20759T>C) n.5101T>C n.5142T>C | ClinVar dbSNP |
17 | g.43070949A>T | CA500231558 | BRCA1 | c.4962T>A (p.Ser1654=) c.4965T>A (p.Ser1655=) c.4839T>A (p.Ser1613=) c.4959T>A (p.Ser1653=) c.4887T>A (p.Ser1629=) c.1653T>A (p.Ser551=) c.1515T>A (p.Ser505=) c.4077T>A (p.Ser1359=) c.4842T>A (p.Ser1614=) c.5031T>A (p.Ser1677=) c.4824T>A (p.Ser1608=) c.1527T>A (p.Ser509=) c.1572T>A (p.Ser524=) c.5028T>A (p.Ser1676=) c.1352T>A c.1539T>A (p.Ser513=) c.*4748T>A (n.*4748T>A) n.118T>A c.1278T>A (p.Ser426=) c.5-6998T>A (n.5-6998T>A) c.438T>A (p.Ser146=) c.-98-20759T>A (n.-98-20759T>A) n.5101T>A n.5142T>A | ClinVar dbSNP |
17 | g.43070950G>A | CA003111 | BRCA1 | c.4961C>T (p.Ser1654Phe) c.4964C>T (p.Ser1655Phe) c.4838C>T (p.Ser1613Phe) c.4958C>T (p.Ser1653Phe) c.4886C>T (p.Ser1629Phe) c.1652C>T (p.Ser551Phe) c.1514C>T (p.Ser505Phe) c.4076C>T (p.Ser1359Phe) c.4841C>T (p.Ser1614Phe) c.5030C>T (p.Ser1677Phe) c.4823C>T (p.Ser1608Phe) c.1526C>T (p.Ser509Phe) c.1571C>T (p.Ser524Phe) c.5027C>T (p.Ser1676Phe) c.1351C>T c.1538C>T (p.Ser513Phe) c.*4747C>T (n.*4747C>T) n.117C>T c.1277C>T (p.Ser426Phe) c.5-6999C>T (n.5-6999C>T) c.437C>T (p.Ser146Phe) c.-98-20760C>T (n.-98-20760C>T) n.5100C>T n.5141C>T | ClinVar dbSNP |
17 | g.43070950G>C | CA10591595 | BRCA1 | c.4961C>G (p.Ser1654Cys) c.4964C>G (p.Ser1655Cys) c.4838C>G (p.Ser1613Cys) c.4958C>G (p.Ser1653Cys) c.4886C>G (p.Ser1629Cys) c.1652C>G (p.Ser551Cys) c.1514C>G (p.Ser505Cys) c.4076C>G (p.Ser1359Cys) c.4841C>G (p.Ser1614Cys) c.5030C>G (p.Ser1677Cys) c.4823C>G (p.Ser1608Cys) c.1526C>G (p.Ser509Cys) c.1571C>G (p.Ser524Cys) c.5027C>G (p.Ser1676Cys) c.1351C>G c.1538C>G (p.Ser513Cys) c.*4747C>G (n.*4747C>G) n.117C>G c.1277C>G (p.Ser426Cys) c.5-6999C>G (n.5-6999C>G) c.437C>G (p.Ser146Cys) c.-98-20760C>G (n.-98-20760C>G) n.5100C>G n.5141C>G | ClinVar dbSNP |
17 | g.43070950G= | CA2260772759 | BRCA1 | c.4961C= (p.Ser1654=) c.4964C= (p.Ser1655=) c.4838C= (p.Ser1613=) c.4958C= (p.Ser1653=) c.4886C= (p.Ser1629=) c.1652C= (p.Ser551=) c.1514C= (p.Ser505=) c.4076C= (p.Ser1359=) c.4841C= (p.Ser1614=) c.5030C= (p.Ser1677=) c.4823C= (p.Ser1608=) c.1526C= (p.Ser509=) c.1571C= (p.Ser524=) c.5027C= (p.Ser1676=) c.1351C= c.1538C= (p.Ser513=) c.*4747C= (n.*4747C=) n.117C= c.1277C= (p.Ser426=) c.5-6999C= (n.5-6999C=) c.437C= (p.Ser146=) c.-98-20760C= (n.-98-20760C=) n.5100C= n.5141C= | |
17 | g.43070950G>T | CA10591596 | BRCA1 | c.4961C>A (p.Ser1654Tyr) c.4964C>A (p.Ser1655Tyr) c.4838C>A (p.Ser1613Tyr) c.4958C>A (p.Ser1653Tyr) c.4886C>A (p.Ser1629Tyr) c.1652C>A (p.Ser551Tyr) c.1514C>A (p.Ser505Tyr) c.4076C>A (p.Ser1359Tyr) c.4841C>A (p.Ser1614Tyr) c.5030C>A (p.Ser1677Tyr) c.4823C>A (p.Ser1608Tyr) c.1526C>A (p.Ser509Tyr) c.1571C>A (p.Ser524Tyr) c.5027C>A (p.Ser1676Tyr) c.1351C>A c.1538C>A (p.Ser513Tyr) c.*4747C>A (n.*4747C>A) n.117C>A c.1277C>A (p.Ser426Tyr) c.5-6999C>A (n.5-6999C>A) c.437C>A (p.Ser146Tyr) c.-98-20760C>A (n.-98-20760C>A) n.5100C>A n.5141C>A | ClinVar dbSNP |
17 | g.43070951del | CA2695225903 | BRCA1 | c.4960del (p.Ser1654LeufsTer3) c.4963del (p.Ser1655LeufsTer3) c.4837del (p.Ser1613LeufsTer3) c.4957del (p.Ser1653LeufsTer3) c.4885del (p.Ser1629LeufsTer3) c.1651del (p.Ser551LeufsTer3) c.1513del (p.Ser505LeufsTer3) c.4075del (p.Ser1359LeufsTer3) c.4840del (p.Ser1614LeufsTer3) c.5029del (p.Ser1677LeufsTer3) c.4822del (p.Ser1608LeufsTer3) c.1525del (p.Ser509LeufsTer3) c.1570del (p.Ser524LeufsTer3) c.5026del (p.Ser1676LeufsTer3) c.1350del c.1537del (p.Ser513LeufsTer3) c.*4746del (n.*4746del) n.116del c.1276del (p.Ser426LeufsTer3) c.5-7000del (n.5-7000del) c.436del (p.Ser146LeufsTer3) c.-98-20761del (n.-98-20761del) n.5099del n.5140del | |
17 | g.43070951A= | CA2260772760 | BRCA1 | c.4960T= (p.Ser1654=) c.4963T= (p.Ser1655=) c.4837T= (p.Ser1613=) c.4957T= (p.Ser1653=) c.4885T= (p.Ser1629=) c.1651T= (p.Ser551=) c.1513T= (p.Ser505=) c.4075T= (p.Ser1359=) c.4840T= (p.Ser1614=) c.5029T= (p.Ser1677=) c.4822T= (p.Ser1608=) c.1525T= (p.Ser509=) c.1570T= (p.Ser524=) c.5026T= (p.Ser1676=) c.1350T= c.1537T= (p.Ser513=) c.*4746T= (n.*4746T=) n.116T= c.1276T= (p.Ser426=) c.5-7000T= (n.5-7000T=) c.436T= (p.Ser146=) c.-98-20761T= (n.-98-20761T=) n.5099T= n.5140T= | |
17 | g.43070951A>C | CA10591597 | BRCA1 | c.4960T>G (p.Ser1654Ala) c.4963T>G (p.Ser1655Ala) c.4837T>G (p.Ser1613Ala) c.4957T>G (p.Ser1653Ala) c.4885T>G (p.Ser1629Ala) c.1651T>G (p.Ser551Ala) c.1513T>G (p.Ser505Ala) c.4075T>G (p.Ser1359Ala) c.4840T>G (p.Ser1614Ala) c.5029T>G (p.Ser1677Ala) c.4822T>G (p.Ser1608Ala) c.1525T>G (p.Ser509Ala) c.1570T>G (p.Ser524Ala) c.5026T>G (p.Ser1676Ala) c.1350T>G c.1537T>G (p.Ser513Ala) c.*4746T>G (n.*4746T>G) n.116T>G c.1276T>G (p.Ser426Ala) c.5-7000T>G (n.5-7000T>G) c.436T>G (p.Ser146Ala) c.-98-20761T>G (n.-98-20761T>G) n.5099T>G n.5140T>G | ClinVar dbSNP |
17 | g.43070951A>G | CA10591598 | BRCA1 | c.4960T>C (p.Ser1654Pro) c.4963T>C (p.Ser1655Pro) c.4837T>C (p.Ser1613Pro) c.4957T>C (p.Ser1653Pro) c.4885T>C (p.Ser1629Pro) c.1651T>C (p.Ser551Pro) c.1513T>C (p.Ser505Pro) c.4075T>C (p.Ser1359Pro) c.4840T>C (p.Ser1614Pro) c.5029T>C (p.Ser1677Pro) c.4822T>C (p.Ser1608Pro) c.1525T>C (p.Ser509Pro) c.1570T>C (p.Ser524Pro) c.5026T>C (p.Ser1676Pro) c.1350T>C c.1537T>C (p.Ser513Pro) c.*4746T>C (n.*4746T>C) n.116T>C c.1276T>C (p.Ser426Pro) c.5-7000T>C (n.5-7000T>C) c.436T>C (p.Ser146Pro) c.-98-20761T>C (n.-98-20761T>C) n.5099T>C n.5140T>C | ClinVar dbSNP |
17 | g.43070951A>T | CA10591599 | BRCA1 | c.4960T>A (p.Ser1654Thr) c.4963T>A (p.Ser1655Thr) c.4837T>A (p.Ser1613Thr) c.4957T>A (p.Ser1653Thr) c.4885T>A (p.Ser1629Thr) c.1651T>A (p.Ser551Thr) c.1513T>A (p.Ser505Thr) c.4075T>A (p.Ser1359Thr) c.4840T>A (p.Ser1614Thr) c.5029T>A (p.Ser1677Thr) c.4822T>A (p.Ser1608Thr) c.1525T>A (p.Ser509Thr) c.1570T>A (p.Ser524Thr) c.5026T>A (p.Ser1676Thr) c.1350T>A c.1537T>A (p.Ser513Thr) c.*4746T>A (n.*4746T>A) n.116T>A c.1276T>A (p.Ser426Thr) c.5-7000T>A (n.5-7000T>A) c.436T>A (p.Ser146Thr) c.-98-20761T>A (n.-98-20761T>A) n.5099T>A n.5140T>A | ClinVar dbSNP |
17 | g.43070952C>A | CA500231563 | BRCA1 | c.4959G>T (p.Val1653=) c.4962G>T (p.Val1654=) c.4836G>T (p.Val1612=) c.4956G>T (p.Val1652=) c.4884G>T (p.Val1628=) c.1650G>T (p.Val550=) c.1512G>T (p.Val504=) c.4074G>T (p.Val1358=) c.4839G>T (p.Val1613=) c.5028G>T (p.Val1676=) c.4821G>T (p.Val1607=) c.1524G>T (p.Val508=) c.1569G>T (p.Val523=) c.5025G>T (p.Val1675=) c.1349G>T c.1536G>T (p.Val512=) c.*4745G>T (n.*4745G>T) n.115G>T c.1275G>T (p.Val425=) c.5-7001G>T (n.5-7001G>T) c.435G>T (p.Val145=) c.-98-20762G>T (n.-98-20762G>T) n.5098G>T n.5139G>T | ClinVar dbSNP |
17 | g.43070952C= | CA2260772761 | BRCA1 | c.4959G= (p.Val1653=) c.4962G= (p.Val1654=) c.4836G= (p.Val1612=) c.4956G= (p.Val1652=) c.4884G= (p.Val1628=) c.1650G= (p.Val550=) c.1512G= (p.Val504=) c.4074G= (p.Val1358=) c.4839G= (p.Val1613=) c.5028G= (p.Val1676=) c.4821G= (p.Val1607=) c.1524G= (p.Val508=) c.1569G= (p.Val523=) c.5025G= (p.Val1675=) c.1349G= c.1536G= (p.Val512=) c.*4745G= (n.*4745G=) n.115G= c.1275G= (p.Val425=) c.5-7001G= (n.5-7001G=) c.435G= (p.Val145=) c.-98-20762G= (n.-98-20762G=) n.5098G= n.5139G= | |
17 | g.43070952C>G | CA500231562 | BRCA1 | c.4959G>C (p.Val1653=) c.4962G>C (p.Val1654=) c.4836G>C (p.Val1612=) c.4956G>C (p.Val1652=) c.4884G>C (p.Val1628=) c.1650G>C (p.Val550=) c.1512G>C (p.Val504=) c.4074G>C (p.Val1358=) c.4839G>C (p.Val1613=) c.5028G>C (p.Val1676=) c.4821G>C (p.Val1607=) c.1524G>C (p.Val508=) c.1569G>C (p.Val523=) c.5025G>C (p.Val1675=) c.1349G>C c.1536G>C (p.Val512=) c.*4745G>C (n.*4745G>C) n.115G>C c.1275G>C (p.Val425=) c.5-7001G>C (n.5-7001G>C) c.435G>C (p.Val145=) c.-98-20762G>C (n.-98-20762G>C) n.5098G>C n.5139G>C | ClinVar dbSNP |
17 | g.43070952C>T | CA053497 | BRCA1 | c.4959G>A (p.Val1653=) c.4962G>A (p.Val1654=) c.4836G>A (p.Val1612=) c.4956G>A (p.Val1652=) c.4884G>A (p.Val1628=) c.1650G>A (p.Val550=) c.1512G>A (p.Val504=) c.4074G>A (p.Val1358=) c.4839G>A (p.Val1613=) c.5028G>A (p.Val1676=) c.4821G>A (p.Val1607=) c.1524G>A (p.Val508=) c.1569G>A (p.Val523=) c.5025G>A (p.Val1675=) c.1349G>A c.1536G>A (p.Val512=) c.*4745G>A (n.*4745G>A) n.115G>A c.1275G>A (p.Val425=) c.5-7001G>A (n.5-7001G>A) c.435G>A (p.Val145=) c.-98-20762G>A (n.-98-20762G>A) n.5098G>A n.5139G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43070953A= | CA2260772762 | BRCA1 | c.4958T= (p.Val1653=) c.4961T= (p.Val1654=) c.4835T= (p.Val1612=) c.4955T= (p.Val1652=) c.4883T= (p.Val1628=) c.1649T= (p.Val550=) c.1511T= (p.Val504=) c.4073T= (p.Val1358=) c.4838T= (p.Val1613=) c.5027T= (p.Val1676=) c.4820T= (p.Val1607=) c.1523T= (p.Val508=) c.1568T= (p.Val523=) c.5024T= (p.Val1675=) c.1348T= c.1535T= (p.Val512=) c.*4744T= (n.*4744T=) n.114T= c.1274T= (p.Val425=) c.5-7002T= (n.5-7002T=) c.434T= (p.Val145=) c.-98-20763T= (n.-98-20763T=) n.5097T= n.5138T= | |
17 | g.43070953A>C | CA10591600 | BRCA1 | c.4958T>G (p.Val1653Gly) c.4961T>G (p.Val1654Gly) c.4835T>G (p.Val1612Gly) c.4955T>G (p.Val1652Gly) c.4883T>G (p.Val1628Gly) c.1649T>G (p.Val550Gly) c.1511T>G (p.Val504Gly) c.4073T>G (p.Val1358Gly) c.4838T>G (p.Val1613Gly) c.5027T>G (p.Val1676Gly) c.4820T>G (p.Val1607Gly) c.1523T>G (p.Val508Gly) c.1568T>G (p.Val523Gly) c.5024T>G (p.Val1675Gly) c.1348T>G c.1535T>G (p.Val512Gly) c.*4744T>G (n.*4744T>G) n.114T>G c.1274T>G (p.Val425Gly) c.5-7002T>G (n.5-7002T>G) c.434T>G (p.Val145Gly) c.-98-20763T>G (n.-98-20763T>G) n.5097T>G n.5138T>G | ClinVar dbSNP |
17 | g.43070953A>G | CA10591601 | BRCA1 | c.4958T>C (p.Val1653Ala) c.4961T>C (p.Val1654Ala) c.4835T>C (p.Val1612Ala) c.4955T>C (p.Val1652Ala) c.4883T>C (p.Val1628Ala) c.1649T>C (p.Val550Ala) c.1511T>C (p.Val504Ala) c.4073T>C (p.Val1358Ala) c.4838T>C (p.Val1613Ala) c.5027T>C (p.Val1676Ala) c.4820T>C (p.Val1607Ala) c.1523T>C (p.Val508Ala) c.1568T>C (p.Val523Ala) c.5024T>C (p.Val1675Ala) c.1348T>C c.1535T>C (p.Val512Ala) c.*4744T>C (n.*4744T>C) n.114T>C c.1274T>C (p.Val425Ala) c.5-7002T>C (n.5-7002T>C) c.434T>C (p.Val145Ala) c.-98-20763T>C (n.-98-20763T>C) n.5097T>C n.5138T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.43070953A>T | CA10591602 | BRCA1 | c.4958T>A (p.Val1653Glu) c.4961T>A (p.Val1654Glu) c.4835T>A (p.Val1612Glu) c.4955T>A (p.Val1652Glu) c.4883T>A (p.Val1628Glu) c.1649T>A (p.Val550Glu) c.1511T>A (p.Val504Glu) c.4073T>A (p.Val1358Glu) c.4838T>A (p.Val1613Glu) c.5027T>A (p.Val1676Glu) c.4820T>A (p.Val1607Glu) c.1523T>A (p.Val508Glu) c.1568T>A (p.Val523Glu) c.5024T>A (p.Val1675Glu) c.1348T>A c.1535T>A (p.Val512Glu) c.*4744T>A (n.*4744T>A) n.114T>A c.1274T>A (p.Val425Glu) c.5-7002T>A (n.5-7002T>A) c.434T>A (p.Val145Glu) c.-98-20763T>A (n.-98-20763T>A) n.5097T>A n.5138T>A | ClinVar dbSNP |
17 | g.43070954C>A | CA10591603 | BRCA1 | c.4957G>T (p.Val1653Leu) c.4960G>T (p.Val1654Leu) c.4834G>T (p.Val1612Leu) c.4954G>T (p.Val1652Leu) c.4882G>T (p.Val1628Leu) c.1648G>T (p.Val550Leu) c.1510G>T (p.Val504Leu) c.4072G>T (p.Val1358Leu) c.4837G>T (p.Val1613Leu) c.5026G>T (p.Val1676Leu) c.4819G>T (p.Val1607Leu) c.1522G>T (p.Val508Leu) c.1567G>T (p.Val523Leu) c.5023G>T (p.Val1675Leu) c.1347G>T c.1534G>T (p.Val512Leu) c.*4743G>T (n.*4743G>T) n.113G>T c.1273G>T (p.Val425Leu) c.5-7003G>T (n.5-7003G>T) c.433G>T (p.Val145Leu) c.-98-20764G>T (n.-98-20764G>T) n.5096G>T n.5137G>T | ClinVar dbSNP |
17 | g.43070954C= | CA2260772763 | BRCA1 | c.4957G= (p.Val1653=) c.4960G= (p.Val1654=) c.4834G= (p.Val1612=) c.4954G= (p.Val1652=) c.4882G= (p.Val1628=) c.1648G= (p.Val550=) c.1510G= (p.Val504=) c.4072G= (p.Val1358=) c.4837G= (p.Val1613=) c.5026G= (p.Val1676=) c.4819G= (p.Val1607=) c.1522G= (p.Val508=) c.1567G= (p.Val523=) c.5023G= (p.Val1675=) c.1347G= c.1534G= (p.Val512=) c.*4743G= (n.*4743G=) n.113G= c.1273G= (p.Val425=) c.5-7003G= (n.5-7003G=) c.433G= (p.Val145=) c.-98-20764G= (n.-98-20764G=) n.5096G= n.5137G= | |
17 | g.43070954C>G | CA10591604 | BRCA1 | c.4957G>C (p.Val1653Leu) c.4960G>C (p.Val1654Leu) c.4834G>C (p.Val1612Leu) c.4954G>C (p.Val1652Leu) c.4882G>C (p.Val1628Leu) c.1648G>C (p.Val550Leu) c.1510G>C (p.Val504Leu) c.4072G>C (p.Val1358Leu) c.4837G>C (p.Val1613Leu) c.5026G>C (p.Val1676Leu) c.4819G>C (p.Val1607Leu) c.1522G>C (p.Val508Leu) c.1567G>C (p.Val523Leu) c.5023G>C (p.Val1675Leu) c.1347G>C c.1534G>C (p.Val512Leu) c.*4743G>C (n.*4743G>C) n.113G>C c.1273G>C (p.Val425Leu) c.5-7003G>C (n.5-7003G>C) c.433G>C (p.Val145Leu) c.-98-20764G>C (n.-98-20764G>C) n.5096G>C n.5137G>C | ClinVar dbSNP |
17 | g.43070954C>T | CA10591605 | BRCA1 | c.4957G>A (p.Val1653Met) c.4960G>A (p.Val1654Met) c.4834G>A (p.Val1612Met) c.4954G>A (p.Val1652Met) c.4882G>A (p.Val1628Met) c.1648G>A (p.Val550Met) c.1510G>A (p.Val504Met) c.4072G>A (p.Val1358Met) c.4837G>A (p.Val1613Met) c.5026G>A (p.Val1676Met) c.4819G>A (p.Val1607Met) c.1522G>A (p.Val508Met) c.1567G>A (p.Val523Met) c.5023G>A (p.Val1675Met) c.1347G>A c.1534G>A (p.Val512Met) c.*4743G>A (n.*4743G>A) n.113G>A c.1273G>A (p.Val425Met) c.5-7003G>A (n.5-7003G>A) c.433G>A (p.Val145Met) c.-98-20764G>A (n.-98-20764G>A) n.5096G>A n.5137G>A | ClinVar dbSNP |
17 | g.43070955C>A | CA500231570 | BRCA1 | c.4956G>T (p.Val1652=) c.4959G>T (p.Val1653=) c.4833G>T (p.Val1611=) c.4953G>T (p.Val1651=) c.4881G>T (p.Val1627=) c.1647G>T (p.Val549=) c.1509G>T (p.Val503=) c.4071G>T (p.Val1357=) c.4836G>T (p.Val1612=) c.5025G>T (p.Val1675=) c.4818G>T (p.Val1606=) c.1521G>T (p.Val507=) c.1566G>T (p.Val522=) c.5022G>T (p.Val1674=) c.1346G>T c.1533G>T (p.Val511=) c.*4742G>T (n.*4742G>T) n.112G>T c.1272G>T (p.Val424=) c.5-7004G>T (n.5-7004G>T) c.432G>T (p.Val144=) c.-98-20765G>T (n.-98-20765G>T) n.5095G>T n.5136G>T | ClinVar dbSNP |
17 | g.43070955C= | CA2260772764 | BRCA1 | c.4956G= (p.Val1652=) c.4959G= (p.Val1653=) c.4833G= (p.Val1611=) c.4953G= (p.Val1651=) c.4881G= (p.Val1627=) c.1647G= (p.Val549=) c.1509G= (p.Val503=) c.4071G= (p.Val1357=) c.4836G= (p.Val1612=) c.5025G= (p.Val1675=) c.4818G= (p.Val1606=) c.1521G= (p.Val507=) c.1566G= (p.Val522=) c.5022G= (p.Val1674=) c.1346G= c.1533G= (p.Val511=) c.*4742G= (n.*4742G=) n.112G= c.1272G= (p.Val424=) c.5-7004G= (n.5-7004G=) c.432G= (p.Val144=) c.-98-20765G= (n.-98-20765G=) n.5095G= n.5136G= | |
17 | g.43070955C>G | CA500231571 | BRCA1 | c.4956G>C (p.Val1652=) c.4959G>C (p.Val1653=) c.4833G>C (p.Val1611=) c.4953G>C (p.Val1651=) c.4881G>C (p.Val1627=) c.1647G>C (p.Val549=) c.1509G>C (p.Val503=) c.4071G>C (p.Val1357=) c.4836G>C (p.Val1612=) c.5025G>C (p.Val1675=) c.4818G>C (p.Val1606=) c.1521G>C (p.Val507=) c.1566G>C (p.Val522=) c.5022G>C (p.Val1674=) c.1346G>C c.1533G>C (p.Val511=) c.*4742G>C (n.*4742G>C) n.112G>C c.1272G>C (p.Val424=) c.5-7004G>C (n.5-7004G>C) c.432G>C (p.Val144=) c.-98-20765G>C (n.-98-20765G>C) n.5095G>C n.5136G>C | ClinVar dbSNP |
17 | g.43070955C>T | CA10583556 | BRCA1 | c.4956G>A (p.Val1652=) c.4959G>A (p.Val1653=) c.4833G>A (p.Val1611=) c.4953G>A (p.Val1651=) c.4881G>A (p.Val1627=) c.1647G>A (p.Val549=) c.1509G>A (p.Val503=) c.4071G>A (p.Val1357=) c.4836G>A (p.Val1612=) c.5025G>A (p.Val1675=) c.4818G>A (p.Val1606=) c.1521G>A (p.Val507=) c.1566G>A (p.Val522=) c.5022G>A (p.Val1674=) c.1346G>A c.1533G>A (p.Val511=) c.*4742G>A (n.*4742G>A) n.112G>A c.1272G>A (p.Val424=) c.5-7004G>A (n.5-7004G>A) c.432G>A (p.Val144=) c.-98-20765G>A (n.-98-20765G>A) n.5095G>A n.5136G>A | ClinVar dbSNP |
17 | g.43070956_43070957del | CA2697559919 | BRCA1 | c.4955_4956del (p.Val1652GlyfsTer25) c.4958_4959del (p.Val1653GlyfsTer25) c.4832_4833del (p.Val1611GlyfsTer25) c.4952_4953del (p.Val1651GlyfsTer25) c.4880_4881del (p.Val1627GlyfsTer25) c.1646_1647del (p.Val549GlyfsTer25) c.1508_1509del (p.Val503GlyfsTer25) c.4070_4071del (p.Val1357GlyfsTer25) c.4835_4836del (p.Val1612GlyfsTer25) c.5024_5025del (p.Val1675GlyfsTer25) c.4817_4818del (p.Val1606GlyfsTer25) c.1520_1521del (p.Val507GlyfsTer25) c.1565_1566del (p.Val522GlyfsTer21) c.5021_5022del (p.Val1674GlyfsTer25) c.1345_1346del c.1532_1533del (p.Val511GlyfsTer25) c.*4741_*4742del (n.*4741_*4742del) n.111_112del c.1271_1272del (p.Val424GlyfsTer25) c.5-7005_5-7004del (n.5-7005_5-7004del) c.431_432del (p.Val144GlyfsTer25) c.-98-20766_-98-20765del (n.-98-20766_-98-20765del) n.5094_5095del n.5135_5136del | ClinVar |
17 | g.43070956A= | CA2260772765 | BRCA1 | c.4955T= (p.Val1652=) c.4958T= (p.Val1653=) c.4832T= (p.Val1611=) c.4952T= (p.Val1651=) c.4880T= (p.Val1627=) c.1646T= (p.Val549=) c.1508T= (p.Val503=) c.4070T= (p.Val1357=) c.4835T= (p.Val1612=) c.5024T= (p.Val1675=) c.4817T= (p.Val1606=) c.1520T= (p.Val507=) c.1565T= (p.Val522=) c.5021T= (p.Val1674=) c.1345T= c.1532T= (p.Val511=) c.*4741T= (n.*4741T=) n.111T= c.1271T= (p.Val424=) c.5-7005T= (n.5-7005T=) c.431T= (p.Val144=) c.-98-20766T= (n.-98-20766T=) n.5094T= n.5135T= | |
17 | g.43070956A>C | CA10591606 | BRCA1 | c.4955T>G (p.Val1652Gly) c.4958T>G (p.Val1653Gly) c.4832T>G (p.Val1611Gly) c.4952T>G (p.Val1651Gly) c.4880T>G (p.Val1627Gly) c.1646T>G (p.Val549Gly) c.1508T>G (p.Val503Gly) c.4070T>G (p.Val1357Gly) c.4835T>G (p.Val1612Gly) c.5024T>G (p.Val1675Gly) c.4817T>G (p.Val1606Gly) c.1520T>G (p.Val507Gly) c.1565T>G (p.Val522Gly) c.5021T>G (p.Val1674Gly) c.1345T>G c.1532T>G (p.Val511Gly) c.*4741T>G (n.*4741T>G) n.111T>G c.1271T>G (p.Val424Gly) c.5-7005T>G (n.5-7005T>G) c.431T>G (p.Val144Gly) c.-98-20766T>G (n.-98-20766T>G) n.5094T>G n.5135T>G | ClinVar dbSNP |
17 | g.43070956A>G | CA10591607 | BRCA1 | c.4955T>C (p.Val1652Ala) c.4958T>C (p.Val1653Ala) c.4832T>C (p.Val1611Ala) c.4952T>C (p.Val1651Ala) c.4880T>C (p.Val1627Ala) c.1646T>C (p.Val549Ala) c.1508T>C (p.Val503Ala) c.4070T>C (p.Val1357Ala) c.4835T>C (p.Val1612Ala) c.5024T>C (p.Val1675Ala) c.4817T>C (p.Val1606Ala) c.1520T>C (p.Val507Ala) c.1565T>C (p.Val522Ala) c.5021T>C (p.Val1674Ala) c.1345T>C c.1532T>C (p.Val511Ala) c.*4741T>C (n.*4741T>C) n.111T>C c.1271T>C (p.Val424Ala) c.5-7005T>C (n.5-7005T>C) c.431T>C (p.Val144Ala) c.-98-20766T>C (n.-98-20766T>C) n.5094T>C n.5135T>C | ClinVar dbSNP |
17 | g.43070956A>T | CA10591608 | BRCA1 | c.4955T>A (p.Val1652Glu) c.4958T>A (p.Val1653Glu) c.4832T>A (p.Val1611Glu) c.4952T>A (p.Val1651Glu) c.4880T>A (p.Val1627Glu) c.1646T>A (p.Val549Glu) c.1508T>A (p.Val503Glu) c.4070T>A (p.Val1357Glu) c.4835T>A (p.Val1612Glu) c.5024T>A (p.Val1675Glu) c.4817T>A (p.Val1606Glu) c.1520T>A (p.Val507Glu) c.1565T>A (p.Val522Glu) c.5021T>A (p.Val1674Glu) c.1345T>A c.1532T>A (p.Val511Glu) c.*4741T>A (n.*4741T>A) n.111T>A c.1271T>A (p.Val424Glu) c.5-7005T>A (n.5-7005T>A) c.431T>A (p.Val144Glu) c.-98-20766T>A (n.-98-20766T>A) n.5094T>A n.5135T>A | ClinVar dbSNP |
17 | g.43070957C>A | CA10591609 | BRCA1 | c.4954G>T (p.Val1652Leu) c.4957G>T (p.Val1653Leu) c.4831G>T (p.Val1611Leu) c.4951G>T (p.Val1651Leu) c.4879G>T (p.Val1627Leu) c.1645G>T (p.Val549Leu) c.1507G>T (p.Val503Leu) c.4069G>T (p.Val1357Leu) c.4834G>T (p.Val1612Leu) c.5023G>T (p.Val1675Leu) c.4816G>T (p.Val1606Leu) c.1519G>T (p.Val507Leu) c.1564G>T (p.Val522Leu) c.5020G>T (p.Val1674Leu) c.1344G>T c.1531G>T (p.Val511Leu) c.*4740G>T (n.*4740G>T) n.110G>T c.1270G>T (p.Val424Leu) c.5-7006G>T (n.5-7006G>T) c.430G>T (p.Val144Leu) c.-98-20767G>T (n.-98-20767G>T) n.5093G>T n.5134G>T | ClinVar dbSNP gnomAD v4 |
17 | g.43070957C= | CA2260772766 | BRCA1 | c.4954G= (p.Val1652=) c.4957G= (p.Val1653=) c.4831G= (p.Val1611=) c.4951G= (p.Val1651=) c.4879G= (p.Val1627=) c.1645G= (p.Val549=) c.1507G= (p.Val503=) c.4069G= (p.Val1357=) c.4834G= (p.Val1612=) c.5023G= (p.Val1675=) c.4816G= (p.Val1606=) c.1519G= (p.Val507=) c.1564G= (p.Val522=) c.5020G= (p.Val1674=) c.1344G= c.1531G= (p.Val511=) c.*4740G= (n.*4740G=) n.110G= c.1270G= (p.Val424=) c.5-7006G= (n.5-7006G=) c.430G= (p.Val144=) c.-98-20767G= (n.-98-20767G=) n.5093G= n.5134G= | |
17 | g.43070957C>G | CA10591610 | BRCA1 | c.4954G>C (p.Val1652Leu) c.4957G>C (p.Val1653Leu) c.4831G>C (p.Val1611Leu) c.4951G>C (p.Val1651Leu) c.4879G>C (p.Val1627Leu) c.1645G>C (p.Val549Leu) c.1507G>C (p.Val503Leu) c.4069G>C (p.Val1357Leu) c.4834G>C (p.Val1612Leu) c.5023G>C (p.Val1675Leu) c.4816G>C (p.Val1606Leu) c.1519G>C (p.Val507Leu) c.1564G>C (p.Val522Leu) c.5020G>C (p.Val1674Leu) c.1344G>C c.1531G>C (p.Val511Leu) c.*4740G>C (n.*4740G>C) n.110G>C c.1270G>C (p.Val424Leu) c.5-7006G>C (n.5-7006G>C) c.430G>C (p.Val144Leu) c.-98-20767G>C (n.-98-20767G>C) n.5093G>C n.5134G>C | ClinVar dbSNP |
17 | g.43070957C>T | CA003104 | BRCA1 | c.4954G>A (p.Val1652Met) c.4957G>A (p.Val1653Met) c.4831G>A (p.Val1611Met) c.4951G>A (p.Val1651Met) c.4879G>A (p.Val1627Met) c.1645G>A (p.Val549Met) c.1507G>A (p.Val503Met) c.4069G>A (p.Val1357Met) c.4834G>A (p.Val1612Met) c.5023G>A (p.Val1675Met) c.4816G>A (p.Val1606Met) c.1519G>A (p.Val507Met) c.1564G>A (p.Val522Met) c.5020G>A (p.Val1674Met) c.1344G>A c.1531G>A (p.Val511Met) c.*4740G>A (n.*4740G>A) n.110G>A c.1270G>A (p.Val424Met) c.5-7006G>A (n.5-7006G>A) c.430G>A (p.Val144Met) c.-98-20767G>A (n.-98-20767G>A) n.5093G>A n.5134G>A | ClinVar dbSNP |
17 | g.43070958C>A | CA10591611 | BRCA1 | c.4953G>T (p.Met1651Ile) c.4956G>T (p.Met1652Ile) c.4830G>T (p.Met1610Ile) c.4950G>T (p.Met1650Ile) c.4878G>T (p.Met1626Ile) c.1644G>T (p.Met548Ile) c.1506G>T (p.Met502Ile) c.4068G>T (p.Met1356Ile) c.4833G>T (p.Met1611Ile) c.5022G>T (p.Met1674Ile) c.4815G>T (p.Met1605Ile) c.1518G>T (p.Met506Ile) c.1563G>T (p.Met521Ile) c.5019G>T (p.Met1673Ile) c.1343G>T c.1530G>T (p.Met510Ile) c.*4739G>T (n.*4739G>T) n.109G>T c.1269G>T (p.Met423Ile) c.5-7007G>T (n.5-7007G>T) c.429G>T (p.Met143Ile) c.-98-20768G>T (n.-98-20768G>T) n.5092G>T n.5133G>T | ClinVar dbSNP |
17 | g.43070958C= | CA2260772767 | BRCA1 | c.4953G= (p.Met1651=) c.4956G= (p.Met1652=) c.4830G= (p.Met1610=) c.4950G= (p.Met1650=) c.4878G= (p.Met1626=) c.1644G= (p.Met548=) c.1506G= (p.Met502=) c.4068G= (p.Met1356=) c.4833G= (p.Met1611=) c.5022G= (p.Met1674=) c.4815G= (p.Met1605=) c.1518G= (p.Met506=) c.1563G= (p.Met521=) c.5019G= (p.Met1673=) c.1343G= c.1530G= (p.Met510=) c.*4739G= (n.*4739G=) n.109G= c.1269G= (p.Met423=) c.5-7007G= (n.5-7007G=) c.429G= (p.Met143=) c.-98-20768G= (n.-98-20768G=) n.5092G= n.5133G= | |
17 | g.43070958C>G | CA10591612 | BRCA1 | c.4953G>C (p.Met1651Ile) c.4956G>C (p.Met1652Ile) c.4830G>C (p.Met1610Ile) c.4950G>C (p.Met1650Ile) c.4878G>C (p.Met1626Ile) c.1644G>C (p.Met548Ile) c.1506G>C (p.Met502Ile) c.4068G>C (p.Met1356Ile) c.4833G>C (p.Met1611Ile) c.5022G>C (p.Met1674Ile) c.4815G>C (p.Met1605Ile) c.1518G>C (p.Met506Ile) c.1563G>C (p.Met521Ile) c.5019G>C (p.Met1673Ile) c.1343G>C c.1530G>C (p.Met510Ile) c.*4739G>C (n.*4739G>C) n.109G>C c.1269G>C (p.Met423Ile) c.5-7007G>C (n.5-7007G>C) c.429G>C (p.Met143Ile) c.-98-20768G>C (n.-98-20768G>C) n.5092G>C n.5133G>C | ClinVar dbSNP |
17 | g.43070958C>T | CA003103 | BRCA1 | c.4953G>A (p.Met1651Ile) c.4956G>A (p.Met1652Ile) c.4830G>A (p.Met1610Ile) c.4950G>A (p.Met1650Ile) c.4878G>A (p.Met1626Ile) c.1644G>A (p.Met548Ile) c.1506G>A (p.Met502Ile) c.4068G>A (p.Met1356Ile) c.4833G>A (p.Met1611Ile) c.5022G>A (p.Met1674Ile) c.4815G>A (p.Met1605Ile) c.1518G>A (p.Met506Ile) c.1563G>A (p.Met521Ile) c.5019G>A (p.Met1673Ile) c.1343G>A c.1530G>A (p.Met510Ile) c.*4739G>A (n.*4739G>A) n.109G>A c.1269G>A (p.Met423Ile) c.5-7007G>A (n.5-7007G>A) c.429G>A (p.Met143Ile) c.-98-20768G>A (n.-98-20768G>A) n.5092G>A n.5133G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43070958_43070959delinsCA | CA2260772768 | BRCA1 | c.4952_4953delinsTG (p.Met1651=) c.4955_4956delinsTG (p.Met1652=) c.4829_4830delinsTG (p.Met1610=) c.4949_4950delinsTG (p.Met1650=) c.4877_4878delinsTG (p.Met1626=) c.1643_1644delinsTG (p.Met548=) c.1505_1506delinsTG (p.Met502=) c.4067_4068delinsTG (p.Met1356=) c.4832_4833delinsTG (p.Met1611=) c.5021_5022delinsTG (p.Met1674=) c.4814_4815delinsTG (p.Met1605=) c.1517_1518delinsTG (p.Met506=) c.1562_1563delinsTG (p.Met521=) c.5018_5019delinsTG (p.Met1673=) c.1342_1343delinsTG c.1529_1530delinsTG (p.Met510=) c.*4738_*4739delinsTG (n.*4738_*4739delinsTG) n.108_109delinsTG c.1268_1269delinsTG (p.Met423=) c.5-7008_5-7007delinsTG (n.5-7008_5-7007delinsTG) c.428_429delinsTG (p.Met143=) c.-98-20769_-98-20768delinsTG (n.-98-20769_-98-20768delinsTG) n.5091_5092delinsTG n.5132_5133delinsTG | |
17 | g.43070958_43070959delinsTT | CA915950102 | BRCA1 | c.4952_4953delinsAA (p.Met1651Lys) c.4955_4956delinsAA (p.Met1652Lys) c.4829_4830delinsAA (p.Met1610Lys) c.4949_4950delinsAA (p.Met1650Lys) c.4877_4878delinsAA (p.Met1626Lys) c.1643_1644delinsAA (p.Met548Lys) c.1505_1506delinsAA (p.Met502Lys) c.4067_4068delinsAA (p.Met1356Lys) c.4832_4833delinsAA (p.Met1611Lys) c.5021_5022delinsAA (p.Met1674Lys) c.4814_4815delinsAA (p.Met1605Lys) c.1517_1518delinsAA (p.Met506Lys) c.1562_1563delinsAA (p.Met521Lys) c.5018_5019delinsAA (p.Met1673Lys) c.1342_1343delinsAA c.1529_1530delinsAA (p.Met510Lys) c.*4738_*4739delinsAA (n.*4738_*4739delinsAA) n.108_109delinsAA c.1268_1269delinsAA (p.Met423Lys) c.5-7008_5-7007delinsAA (n.5-7008_5-7007delinsAA) c.428_429delinsAA (p.Met143Lys) c.-98-20769_-98-20768delinsAA (n.-98-20769_-98-20768delinsAA) n.5091_5092delinsAA n.5132_5133delinsAA | ClinVar dbSNP |
17 | g.43070959del | CA1139665577 | BRCA1 | c.4952del (p.Met1651ArgfsTer6) c.4955del (p.Met1652ArgfsTer6) c.4829del (p.Met1610ArgfsTer6) c.4949del (p.Met1650ArgfsTer6) c.4877del (p.Met1626ArgfsTer6) c.1643del (p.Met548ArgfsTer6) c.1505del (p.Met502ArgfsTer6) c.4067del (p.Met1356ArgfsTer6) c.4832del (p.Met1611ArgfsTer6) c.5021del (p.Met1674ArgfsTer6) c.4814del (p.Met1605ArgfsTer6) c.1517del (p.Met506ArgfsTer6) c.1562del (p.Met521ArgfsTer6) c.5018del (p.Met1673ArgfsTer6) c.1342del c.1529del (p.Met510ArgfsTer6) c.*4738del (n.*4738del) n.108del c.1268del (p.Met423ArgfsTer6) c.5-7008del (n.5-7008del) c.428del (p.Met143ArgfsTer6) c.-98-20769del (n.-98-20769del) n.5091del n.5132del | ClinVar dbSNP |
17 | g.43070959A= | CA2260772769 | BRCA1 | c.4952T= (p.Met1651=) c.4955T= (p.Met1652=) c.4829T= (p.Met1610=) c.4949T= (p.Met1650=) c.4877T= (p.Met1626=) c.1643T= (p.Met548=) c.1505T= (p.Met502=) c.4067T= (p.Met1356=) c.4832T= (p.Met1611=) c.5021T= (p.Met1674=) c.4814T= (p.Met1605=) c.1517T= (p.Met506=) c.1562T= (p.Met521=) c.5018T= (p.Met1673=) c.1342T= c.1529T= (p.Met510=) c.*4738T= (n.*4738T=) n.108T= c.1268T= (p.Met423=) c.5-7008T= (n.5-7008T=) c.428T= (p.Met143=) c.-98-20769T= (n.-98-20769T=) n.5091T= n.5132T= | |
17 | g.43070959A>C | CA10591613 | BRCA1 | c.4952T>G (p.Met1651Arg) c.4955T>G (p.Met1652Arg) c.4829T>G (p.Met1610Arg) c.4949T>G (p.Met1650Arg) c.4877T>G (p.Met1626Arg) c.1643T>G (p.Met548Arg) c.1505T>G (p.Met502Arg) c.4067T>G (p.Met1356Arg) c.4832T>G (p.Met1611Arg) c.5021T>G (p.Met1674Arg) c.4814T>G (p.Met1605Arg) c.1517T>G (p.Met506Arg) c.1562T>G (p.Met521Arg) c.5018T>G (p.Met1673Arg) c.1342T>G c.1529T>G (p.Met510Arg) c.*4738T>G (n.*4738T>G) n.108T>G c.1268T>G (p.Met423Arg) c.5-7008T>G (n.5-7008T>G) c.428T>G (p.Met143Arg) c.-98-20769T>G (n.-98-20769T>G) n.5091T>G n.5132T>G | ClinVar dbSNP |
17 | g.43070959A>G | CA003102 | BRCA1 | c.4952T>C (p.Met1651Thr) c.4955T>C (p.Met1652Thr) c.4829T>C (p.Met1610Thr) c.4949T>C (p.Met1650Thr) c.4877T>C (p.Met1626Thr) c.1643T>C (p.Met548Thr) c.1505T>C (p.Met502Thr) c.4067T>C (p.Met1356Thr) c.4832T>C (p.Met1611Thr) c.5021T>C (p.Met1674Thr) c.4814T>C (p.Met1605Thr) c.1517T>C (p.Met506Thr) c.1562T>C (p.Met521Thr) c.5018T>C (p.Met1673Thr) c.1342T>C c.1529T>C (p.Met510Thr) c.*4738T>C (n.*4738T>C) n.108T>C c.1268T>C (p.Met423Thr) c.5-7008T>C (n.5-7008T>C) c.428T>C (p.Met143Thr) c.-98-20769T>C (n.-98-20769T>C) n.5091T>C n.5132T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43070959A>T | CA003101 | BRCA1 | c.4952T>A (p.Met1651Lys) c.4955T>A (p.Met1652Lys) c.4829T>A (p.Met1610Lys) c.4949T>A (p.Met1650Lys) c.4877T>A (p.Met1626Lys) c.1643T>A (p.Met548Lys) c.1505T>A (p.Met502Lys) c.4067T>A (p.Met1356Lys) c.4832T>A (p.Met1611Lys) c.5021T>A (p.Met1674Lys) c.4814T>A (p.Met1605Lys) c.1517T>A (p.Met506Lys) c.1562T>A (p.Met521Lys) c.5018T>A (p.Met1673Lys) c.1342T>A c.1529T>A (p.Met510Lys) c.*4738T>A (n.*4738T>A) n.108T>A c.1268T>A (p.Met423Lys) c.5-7008T>A (n.5-7008T>A) c.428T>A (p.Met143Lys) c.-98-20769T>A (n.-98-20769T>A) n.5091T>A n.5132T>A | ClinVar dbSNP gnomAD v4 |
17 | g.43070960T>A | CA10591614 | BRCA1 | c.4951A>T (p.Met1651Leu) c.4954A>T (p.Met1652Leu) c.4828A>T (p.Met1610Leu) c.4948A>T (p.Met1650Leu) c.4876A>T (p.Met1626Leu) c.1642A>T (p.Met548Leu) c.1504A>T (p.Met502Leu) c.4066A>T (p.Met1356Leu) c.4831A>T (p.Met1611Leu) c.5020A>T (p.Met1674Leu) c.4813A>T (p.Met1605Leu) c.1516A>T (p.Met506Leu) c.1561A>T (p.Met521Leu) c.5017A>T (p.Met1673Leu) c.1341A>T c.1528A>T (p.Met510Leu) c.*4737A>T (n.*4737A>T) n.107A>T c.1267A>T (p.Met423Leu) c.5-7009A>T (n.5-7009A>T) c.427A>T (p.Met143Leu) c.-98-20770A>T (n.-98-20770A>T) n.5090A>T n.5131A>T | ClinVar dbSNP |
17 | g.43070960T>C | CA10591615 | BRCA1 | c.4951A>G (p.Met1651Val) c.4954A>G (p.Met1652Val) c.4828A>G (p.Met1610Val) c.4948A>G (p.Met1650Val) c.4876A>G (p.Met1626Val) c.1642A>G (p.Met548Val) c.1504A>G (p.Met502Val) c.4066A>G (p.Met1356Val) c.4831A>G (p.Met1611Val) c.5020A>G (p.Met1674Val) c.4813A>G (p.Met1605Val) c.1516A>G (p.Met506Val) c.1561A>G (p.Met521Val) c.5017A>G (p.Met1673Val) c.1341A>G c.1528A>G (p.Met510Val) c.*4737A>G (n.*4737A>G) n.107A>G c.1267A>G (p.Met423Val) c.5-7009A>G (n.5-7009A>G) c.427A>G (p.Met143Val) c.-98-20770A>G (n.-98-20770A>G) n.5090A>G n.5131A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.43070960T>G | CA10591616 | BRCA1 | c.4951A>C (p.Met1651Leu) c.4954A>C (p.Met1652Leu) c.4828A>C (p.Met1610Leu) c.4948A>C (p.Met1650Leu) c.4876A>C (p.Met1626Leu) c.1642A>C (p.Met548Leu) c.1504A>C (p.Met502Leu) c.4066A>C (p.Met1356Leu) c.4831A>C (p.Met1611Leu) c.5020A>C (p.Met1674Leu) c.4813A>C (p.Met1605Leu) c.1516A>C (p.Met506Leu) c.1561A>C (p.Met521Leu) c.5017A>C (p.Met1673Leu) c.1341A>C c.1528A>C (p.Met510Leu) c.*4737A>C (n.*4737A>C) n.107A>C c.1267A>C (p.Met423Leu) c.5-7009A>C (n.5-7009A>C) c.427A>C (p.Met143Leu) c.-98-20770A>C (n.-98-20770A>C) n.5090A>C n.5131A>C | ClinVar dbSNP |
17 | g.43070960T= | CA2260772770 | BRCA1 | c.4951A= (p.Met1651=) c.4954A= (p.Met1652=) c.4828A= (p.Met1610=) c.4948A= (p.Met1650=) c.4876A= (p.Met1626=) c.1642A= (p.Met548=) c.1504A= (p.Met502=) c.4066A= (p.Met1356=) c.4831A= (p.Met1611=) c.5020A= (p.Met1674=) c.4813A= (p.Met1605=) c.1516A= (p.Met506=) c.1561A= (p.Met521=) c.5017A= (p.Met1673=) c.1341A= c.1528A= (p.Met510=) c.*4737A= (n.*4737A=) n.107A= c.1267A= (p.Met423=) c.5-7009A= (n.5-7009A=) c.427A= (p.Met143=) c.-98-20770A= (n.-98-20770A=) n.5090A= n.5131A= | |
17 | g.43070961G>A | CA500231576 | BRCA1 | c.4950C>T (p.Ser1650=) c.4953C>T (p.Ser1651=) c.4827C>T (p.Ser1609=) c.4947C>T (p.Ser1649=) c.4875C>T (p.Ser1625=) c.1641C>T (p.Ser547=) c.1503C>T (p.Ser501=) c.4065C>T (p.Ser1355=) c.4830C>T (p.Ser1610=) c.5019C>T (p.Ser1673=) c.4812C>T (p.Ser1604=) c.1515C>T (p.Ser505=) c.1560C>T (p.Ser520=) c.5016C>T (p.Ser1672=) c.1340C>T c.1527C>T (p.Ser509=) c.*4736C>T (n.*4736C>T) n.106C>T c.1266C>T (p.Ser422=) c.5-7010C>T (n.5-7010C>T) c.426C>T (p.Ser142=) c.-98-20771C>T (n.-98-20771C>T) n.5089C>T n.5130C>T | ClinVar dbSNP |
17 | g.43070961G>C | CA500231577 | BRCA1 | c.4950C>G (p.Ser1650=) c.4953C>G (p.Ser1651=) c.4827C>G (p.Ser1609=) c.4947C>G (p.Ser1649=) c.4875C>G (p.Ser1625=) c.1641C>G (p.Ser547=) c.1503C>G (p.Ser501=) c.4065C>G (p.Ser1355=) c.4830C>G (p.Ser1610=) c.5019C>G (p.Ser1673=) c.4812C>G (p.Ser1604=) c.1515C>G (p.Ser505=) c.1560C>G (p.Ser520=) c.5016C>G (p.Ser1672=) c.1340C>G c.1527C>G (p.Ser509=) c.*4736C>G (n.*4736C>G) n.106C>G c.1266C>G (p.Ser422=) c.5-7010C>G (n.5-7010C>G) c.426C>G (p.Ser142=) c.-98-20771C>G (n.-98-20771C>G) n.5089C>G n.5130C>G | ClinVar dbSNP |
17 | g.43070961G= | CA2260772771 | BRCA1 | c.4950C= (p.Ser1650=) c.4953C= (p.Ser1651=) c.4827C= (p.Ser1609=) c.4947C= (p.Ser1649=) c.4875C= (p.Ser1625=) c.1641C= (p.Ser547=) c.1503C= (p.Ser501=) c.4065C= (p.Ser1355=) c.4830C= (p.Ser1610=) c.5019C= (p.Ser1673=) c.4812C= (p.Ser1604=) c.1515C= (p.Ser505=) c.1560C= (p.Ser520=) c.5016C= (p.Ser1672=) c.1340C= c.1527C= (p.Ser509=) c.*4736C= (n.*4736C=) n.106C= c.1266C= (p.Ser422=) c.5-7010C= (n.5-7010C=) c.426C= (p.Ser142=) c.-98-20771C= (n.-98-20771C=) n.5089C= n.5130C= | |
17 | g.43070961G>T | CA500231578 | BRCA1 | c.4950C>A (p.Ser1650=) c.4953C>A (p.Ser1651=) c.4827C>A (p.Ser1609=) c.4947C>A (p.Ser1649=) c.4875C>A (p.Ser1625=) c.1641C>A (p.Ser547=) c.1503C>A (p.Ser501=) c.4065C>A (p.Ser1355=) c.4830C>A (p.Ser1610=) c.5019C>A (p.Ser1673=) c.4812C>A (p.Ser1604=) c.1515C>A (p.Ser505=) c.1560C>A (p.Ser520=) c.5016C>A (p.Ser1672=) c.1340C>A c.1527C>A (p.Ser509=) c.*4736C>A (n.*4736C>A) n.106C>A c.1266C>A (p.Ser422=) c.5-7010C>A (n.5-7010C>A) c.426C>A (p.Ser142=) c.-98-20771C>A (n.-98-20771C>A) n.5089C>A n.5130C>A | ClinVar dbSNP |
17 | g.43070962del | CA2843744563 | BRCA1 | c.4950del (p.Met1651TrpfsTer6) c.4953del (p.Met1652TrpfsTer6) c.4827del (p.Met1610TrpfsTer6) c.4947del (p.Met1650TrpfsTer6) c.4875del (p.Met1626TrpfsTer6) c.1641del (p.Met548TrpfsTer6) c.1503del (p.Met502TrpfsTer6) c.4065del (p.Met1356TrpfsTer6) c.4830del (p.Met1611TrpfsTer6) c.5019del (p.Met1674TrpfsTer6) c.4812del (p.Met1605TrpfsTer6) c.1515del (p.Met506TrpfsTer6) c.1560del (p.Met521TrpfsTer6) c.5016del (p.Met1673TrpfsTer6) c.1340del c.1527del (p.Met510TrpfsTer6) c.*4736del (n.*4736del) n.106del c.1266del (p.Met423TrpfsTer6) c.5-7010del (n.5-7010del) c.426del (p.Met143TrpfsTer6) c.-98-20771del (n.-98-20771del) n.5089del n.5130del | |
17 | g.43070962G>A | CA003100 | BRCA1 | c.4949C>T (p.Ser1650Phe) c.4952C>T (p.Ser1651Phe) c.4826C>T (p.Ser1609Phe) c.4946C>T (p.Ser1649Phe) c.4874C>T (p.Ser1625Phe) c.1640C>T (p.Ser547Phe) c.1502C>T (p.Ser501Phe) c.4064C>T (p.Ser1355Phe) c.4829C>T (p.Ser1610Phe) c.5018C>T (p.Ser1673Phe) c.4811C>T (p.Ser1604Phe) c.1514C>T (p.Ser505Phe) c.1559C>T (p.Ser520Phe) c.5015C>T (p.Ser1672Phe) c.1339C>T c.1526C>T (p.Ser509Phe) c.*4735C>T (n.*4735C>T) n.105C>T c.1265C>T (p.Ser422Phe) c.5-7011C>T (n.5-7011C>T) c.425C>T (p.Ser142Phe) c.-98-20772C>T (n.-98-20772C>T) n.5088C>T n.5129C>T | ClinVar dbSNP gnomAD v4 |
17 | g.43070962G>C | CA10591617 | BRCA1 | c.4949C>G (p.Ser1650Cys) c.4952C>G (p.Ser1651Cys) c.4826C>G (p.Ser1609Cys) c.4946C>G (p.Ser1649Cys) c.4874C>G (p.Ser1625Cys) c.1640C>G (p.Ser547Cys) c.1502C>G (p.Ser501Cys) c.4064C>G (p.Ser1355Cys) c.4829C>G (p.Ser1610Cys) c.5018C>G (p.Ser1673Cys) c.4811C>G (p.Ser1604Cys) c.1514C>G (p.Ser505Cys) c.1559C>G (p.Ser520Cys) c.5015C>G (p.Ser1672Cys) c.1339C>G c.1526C>G (p.Ser509Cys) c.*4735C>G (n.*4735C>G) n.105C>G c.1265C>G (p.Ser422Cys) c.5-7011C>G (n.5-7011C>G) c.425C>G (p.Ser142Cys) c.-98-20772C>G (n.-98-20772C>G) n.5088C>G n.5129C>G | ClinVar dbSNP |
17 | g.43070962G= | CA2260772772 | BRCA1 | c.4949C= (p.Ser1650=) c.4952C= (p.Ser1651=) c.4826C= (p.Ser1609=) c.4946C= (p.Ser1649=) c.4874C= (p.Ser1625=) c.1640C= (p.Ser547=) c.1502C= (p.Ser501=) c.4064C= (p.Ser1355=) c.4829C= (p.Ser1610=) c.5018C= (p.Ser1673=) c.4811C= (p.Ser1604=) c.1514C= (p.Ser505=) c.1559C= (p.Ser520=) c.5015C= (p.Ser1672=) c.1339C= c.1526C= (p.Ser509=) c.*4735C= (n.*4735C=) n.105C= c.1265C= (p.Ser422=) c.5-7011C= (n.5-7011C=) c.425C= (p.Ser142=) c.-98-20772C= (n.-98-20772C=) n.5088C= n.5129C= | |
17 | g.43070962G>T | CA10591618 | BRCA1 | c.4949C>A (p.Ser1650Tyr) c.4952C>A (p.Ser1651Tyr) c.4826C>A (p.Ser1609Tyr) c.4946C>A (p.Ser1649Tyr) c.4874C>A (p.Ser1625Tyr) c.1640C>A (p.Ser547Tyr) c.1502C>A (p.Ser501Tyr) c.4064C>A (p.Ser1355Tyr) c.4829C>A (p.Ser1610Tyr) c.5018C>A (p.Ser1673Tyr) c.4811C>A (p.Ser1604Tyr) c.1514C>A (p.Ser505Tyr) c.1559C>A (p.Ser520Tyr) c.5015C>A (p.Ser1672Tyr) c.1339C>A c.1526C>A (p.Ser509Tyr) c.*4735C>A (n.*4735C>A) n.105C>A c.1265C>A (p.Ser422Tyr) c.5-7011C>A (n.5-7011C>A) c.425C>A (p.Ser142Tyr) c.-98-20772C>A (n.-98-20772C>A) n.5088C>A n.5129C>A | ClinVar dbSNP |
17 | g.43070963A= | CA2260772773 | BRCA1 | c.4948T= (p.Ser1650=) c.4951T= (p.Ser1651=) c.4825T= (p.Ser1609=) c.4945T= (p.Ser1649=) c.4873T= (p.Ser1625=) c.1639T= (p.Ser547=) c.1501T= (p.Ser501=) c.4063T= (p.Ser1355=) c.4828T= (p.Ser1610=) c.5017T= (p.Ser1673=) c.4810T= (p.Ser1604=) c.1513T= (p.Ser505=) c.1558T= (p.Ser520=) c.5014T= (p.Ser1672=) c.1338T= c.1525T= (p.Ser509=) c.*4734T= (n.*4734T=) n.104T= c.1264T= (p.Ser422=) c.5-7012T= (n.5-7012T=) c.424T= (p.Ser142=) c.-98-20773T= (n.-98-20773T=) n.5087T= n.5128T= | |
17 | g.43070963A>C | CA10591619 | BRCA1 | c.4948T>G (p.Ser1650Ala) c.4951T>G (p.Ser1651Ala) c.4825T>G (p.Ser1609Ala) c.4945T>G (p.Ser1649Ala) c.4873T>G (p.Ser1625Ala) c.1639T>G (p.Ser547Ala) c.1501T>G (p.Ser501Ala) c.4063T>G (p.Ser1355Ala) c.4828T>G (p.Ser1610Ala) c.5017T>G (p.Ser1673Ala) c.4810T>G (p.Ser1604Ala) c.1513T>G (p.Ser505Ala) c.1558T>G (p.Ser520Ala) c.5014T>G (p.Ser1672Ala) c.1338T>G c.1525T>G (p.Ser509Ala) c.*4734T>G (n.*4734T>G) n.104T>G c.1264T>G (p.Ser422Ala) c.5-7012T>G (n.5-7012T>G) c.424T>G (p.Ser142Ala) c.-98-20773T>G (n.-98-20773T>G) n.5087T>G n.5128T>G | ClinVar dbSNP |
17 | g.43070963A>G | CA10584551 | BRCA1 | c.4948T>C (p.Ser1650Pro) c.4951T>C (p.Ser1651Pro) c.4825T>C (p.Ser1609Pro) c.4945T>C (p.Ser1649Pro) c.4873T>C (p.Ser1625Pro) c.1639T>C (p.Ser547Pro) c.1501T>C (p.Ser501Pro) c.4063T>C (p.Ser1355Pro) c.4828T>C (p.Ser1610Pro) c.5017T>C (p.Ser1673Pro) c.4810T>C (p.Ser1604Pro) c.1513T>C (p.Ser505Pro) c.1558T>C (p.Ser520Pro) c.5014T>C (p.Ser1672Pro) c.1338T>C c.1525T>C (p.Ser509Pro) c.*4734T>C (n.*4734T>C) n.104T>C c.1264T>C (p.Ser422Pro) c.5-7012T>C (n.5-7012T>C) c.424T>C (p.Ser142Pro) c.-98-20773T>C (n.-98-20773T>C) n.5087T>C n.5128T>C | ClinVar dbSNP |
17 | g.43070963A>T | CA10591620 | BRCA1 | c.4948T>A (p.Ser1650Thr) c.4951T>A (p.Ser1651Thr) c.4825T>A (p.Ser1609Thr) c.4945T>A (p.Ser1649Thr) c.4873T>A (p.Ser1625Thr) c.1639T>A (p.Ser547Thr) c.1501T>A (p.Ser501Thr) c.4063T>A (p.Ser1355Thr) c.4828T>A (p.Ser1610Thr) c.5017T>A (p.Ser1673Thr) c.4810T>A (p.Ser1604Thr) c.1513T>A (p.Ser505Thr) c.1558T>A (p.Ser520Thr) c.5014T>A (p.Ser1672Thr) c.1338T>A c.1525T>A (p.Ser509Thr) c.*4734T>A (n.*4734T>A) n.104T>A c.1264T>A (p.Ser422Thr) c.5-7012T>A (n.5-7012T>A) c.424T>A (p.Ser142Thr) c.-98-20773T>A (n.-98-20773T>A) n.5087T>A n.5128T>A | ClinVar dbSNP |
17 | g.43070963_43070966del | CA2739265580 | BRCA1 | c.4945_4948del (p.Met1649ProfsTer7) c.4948_4951del (p.Met1650ProfsTer7) c.4822_4825del (p.Met1608ProfsTer7) c.4942_4945del (p.Met1648ProfsTer7) c.4870_4873del (p.Met1624ProfsTer7) c.1636_1639del (p.Met546ProfsTer7) c.1498_1501del (p.Met500ProfsTer7) c.4060_4063del (p.Met1354ProfsTer7) c.4825_4828del (p.Met1609ProfsTer7) c.5014_5017del (p.Met1672ProfsTer7) c.4807_4810del (p.Met1603ProfsTer7) c.1510_1513del (p.Met504ProfsTer7) c.1555_1558del (p.Met519ProfsTer7) c.5011_5014del (p.Met1671ProfsTer7) c.1335_1338del c.1522_1525del (p.Met508ProfsTer7) c.*4731_*4734del (n.*4731_*4734del) n.101_104del c.1261_1264del (p.Met421ProfsTer7) c.5-7015_5-7012del (n.5-7015_5-7012del) c.421_424del (p.Met141ProfsTer7) c.-98-20776_-98-20773del (n.-98-20776_-98-20773del) n.5084_5087del n.5125_5128del | ClinVar |
17 | g.43070964C>A | CA10591621 | BRCA1 | c.4947G>T (p.Met1649Ile) c.4950G>T (p.Met1650Ile) c.4824G>T (p.Met1608Ile) c.4944G>T (p.Met1648Ile) c.4872G>T (p.Met1624Ile) c.1638G>T (p.Met546Ile) c.1500G>T (p.Met500Ile) c.4062G>T (p.Met1354Ile) c.4827G>T (p.Met1609Ile) c.5016G>T (p.Met1672Ile) c.4809G>T (p.Met1603Ile) c.1512G>T (p.Met504Ile) c.1557G>T (p.Met519Ile) c.5013G>T (p.Met1671Ile) c.1337G>T c.1524G>T (p.Met508Ile) c.*4733G>T (n.*4733G>T) n.103G>T c.1263G>T (p.Met421Ile) c.5-7013G>T (n.5-7013G>T) c.423G>T (p.Met141Ile) c.-98-20774G>T (n.-98-20774G>T) n.5086G>T n.5127G>T | ClinVar dbSNP |
17 | g.43070964C= | CA2260772774 | BRCA1 | c.4947G= (p.Met1649=) c.4950G= (p.Met1650=) c.4824G= (p.Met1608=) c.4944G= (p.Met1648=) c.4872G= (p.Met1624=) c.1638G= (p.Met546=) c.1500G= (p.Met500=) c.4062G= (p.Met1354=) c.4827G= (p.Met1609=) c.5016G= (p.Met1672=) c.4809G= (p.Met1603=) c.1512G= (p.Met504=) c.1557G= (p.Met519=) c.5013G= (p.Met1671=) c.1337G= c.1524G= (p.Met508=) c.*4733G= (n.*4733G=) n.103G= c.1263G= (p.Met421=) c.5-7013G= (n.5-7013G=) c.423G= (p.Met141=) c.-98-20774G= (n.-98-20774G=) n.5086G= n.5127G= | |
17 | g.43070964C>G | CA10591622 | BRCA1 | c.4947G>C (p.Met1649Ile) c.4950G>C (p.Met1650Ile) c.4824G>C (p.Met1608Ile) c.4944G>C (p.Met1648Ile) c.4872G>C (p.Met1624Ile) c.1638G>C (p.Met546Ile) c.1500G>C (p.Met500Ile) c.4062G>C (p.Met1354Ile) c.4827G>C (p.Met1609Ile) c.5016G>C (p.Met1672Ile) c.4809G>C (p.Met1603Ile) c.1512G>C (p.Met504Ile) c.1557G>C (p.Met519Ile) c.5013G>C (p.Met1671Ile) c.1337G>C c.1524G>C (p.Met508Ile) c.*4733G>C (n.*4733G>C) n.103G>C c.1263G>C (p.Met421Ile) c.5-7013G>C (n.5-7013G>C) c.423G>C (p.Met141Ile) c.-98-20774G>C (n.-98-20774G>C) n.5086G>C n.5127G>C | ClinVar dbSNP |
17 | g.43070964C>T | CA10591623 | BRCA1 | c.4947G>A (p.Met1649Ile) c.4950G>A (p.Met1650Ile) c.4824G>A (p.Met1608Ile) c.4944G>A (p.Met1648Ile) c.4872G>A (p.Met1624Ile) c.1638G>A (p.Met546Ile) c.1500G>A (p.Met500Ile) c.4062G>A (p.Met1354Ile) c.4827G>A (p.Met1609Ile) c.5016G>A (p.Met1672Ile) c.4809G>A (p.Met1603Ile) c.1512G>A (p.Met504Ile) c.1557G>A (p.Met519Ile) c.5013G>A (p.Met1671Ile) c.1337G>A c.1524G>A (p.Met508Ile) c.*4733G>A (n.*4733G>A) n.103G>A c.1263G>A (p.Met421Ile) c.5-7013G>A (n.5-7013G>A) c.423G>A (p.Met141Ile) c.-98-20774G>A (n.-98-20774G>A) n.5086G>A n.5127G>A | ClinVar dbSNP |
17 | g.43070965A= | CA2260772775 | BRCA1 | c.4946T= (p.Met1649=) c.4949T= (p.Met1650=) c.4823T= (p.Met1608=) c.4943T= (p.Met1648=) c.4871T= (p.Met1624=) c.1637T= (p.Met546=) c.1499T= (p.Met500=) c.4061T= (p.Met1354=) c.4826T= (p.Met1609=) c.5015T= (p.Met1672=) c.4808T= (p.Met1603=) c.1511T= (p.Met504=) c.1556T= (p.Met519=) c.5012T= (p.Met1671=) c.1336T= c.1523T= (p.Met508=) c.*4732T= (n.*4732T=) n.102T= c.1262T= (p.Met421=) c.5-7014T= (n.5-7014T=) c.422T= (p.Met141=) c.-98-20775T= (n.-98-20775T=) n.5085T= n.5126T= | |
17 | g.43070965A>C | CA10591624 | BRCA1 | c.4946T>G (p.Met1649Arg) c.4949T>G (p.Met1650Arg) c.4823T>G (p.Met1608Arg) c.4943T>G (p.Met1648Arg) c.4871T>G (p.Met1624Arg) c.1637T>G (p.Met546Arg) c.1499T>G (p.Met500Arg) c.4061T>G (p.Met1354Arg) c.4826T>G (p.Met1609Arg) c.5015T>G (p.Met1672Arg) c.4808T>G (p.Met1603Arg) c.1511T>G (p.Met504Arg) c.1556T>G (p.Met519Arg) c.5012T>G (p.Met1671Arg) c.1336T>G c.1523T>G (p.Met508Arg) c.*4732T>G (n.*4732T>G) n.102T>G c.1262T>G (p.Met421Arg) c.5-7014T>G (n.5-7014T>G) c.422T>G (p.Met141Arg) c.-98-20775T>G (n.-98-20775T>G) n.5085T>G n.5126T>G | ClinVar dbSNP |
17 | g.43070965A>G | CA053470 | BRCA1 | c.4946T>C (p.Met1649Thr) c.4949T>C (p.Met1650Thr) c.4823T>C (p.Met1608Thr) c.4943T>C (p.Met1648Thr) c.4871T>C (p.Met1624Thr) c.1637T>C (p.Met546Thr) c.1499T>C (p.Met500Thr) c.4061T>C (p.Met1354Thr) c.4826T>C (p.Met1609Thr) c.5015T>C (p.Met1672Thr) c.4808T>C (p.Met1603Thr) c.1511T>C (p.Met504Thr) c.1556T>C (p.Met519Thr) c.5012T>C (p.Met1671Thr) c.1336T>C c.1523T>C (p.Met508Thr) c.*4732T>C (n.*4732T>C) n.102T>C c.1262T>C (p.Met421Thr) c.5-7014T>C (n.5-7014T>C) c.422T>C (p.Met141Thr) c.-98-20775T>C (n.-98-20775T>C) n.5085T>C n.5126T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43070965A>T | CA10591625 | BRCA1 | c.4946T>A (p.Met1649Lys) c.4949T>A (p.Met1650Lys) c.4823T>A (p.Met1608Lys) c.4943T>A (p.Met1648Lys) c.4871T>A (p.Met1624Lys) c.1637T>A (p.Met546Lys) c.1499T>A (p.Met500Lys) c.4061T>A (p.Met1354Lys) c.4826T>A (p.Met1609Lys) c.5015T>A (p.Met1672Lys) c.4808T>A (p.Met1603Lys) c.1511T>A (p.Met504Lys) c.1556T>A (p.Met519Lys) c.5012T>A (p.Met1671Lys) c.1336T>A c.1523T>A (p.Met508Lys) c.*4732T>A (n.*4732T>A) n.102T>A c.1262T>A (p.Met421Lys) c.5-7014T>A (n.5-7014T>A) c.422T>A (p.Met141Lys) c.-98-20775T>A (n.-98-20775T>A) n.5085T>A n.5126T>A | ClinVar dbSNP |
17 | g.43070965_43070968delinsATTC | CA2260772776 | BRCA1 | c.4943_4946delinsGAAT (p.Arg1648=) c.4946_4949delinsGAAT (p.Arg1649=) c.4820_4823delinsGAAT (p.Arg1607=) c.4940_4943delinsGAAT (p.Arg1647=) c.4868_4871delinsGAAT (p.Arg1623=) c.1634_1637delinsGAAT (p.Arg545=) c.1496_1499delinsGAAT (p.Arg499=) c.4058_4061delinsGAAT (p.Arg1353=) c.4823_4826delinsGAAT (p.Arg1608=) c.5012_5015delinsGAAT (p.Arg1671=) c.4805_4808delinsGAAT (p.Arg1602=) c.1508_1511delinsGAAT (p.Arg503=) c.1553_1556delinsGAAT (p.Arg518=) c.5009_5012delinsGAAT (p.Arg1670=) c.1333_1336delinsGAAT c.1520_1523delinsGAAT (p.Arg507=) c.*4729_*4732delinsGAAT (n.*4729_*4732delinsGAAT) n.99_102delinsGAAT c.1259_1262delinsGAAT (p.Arg420=) c.5-7017_5-7014delinsGAAT (n.5-7017_5-7014delinsGAAT) c.419_422delinsGAAT (p.Arg140=) c.-98-20778_-98-20775delinsGAAT (n.-98-20778_-98-20775delinsGAAT) n.5082_5085delinsGAAT n.5123_5126delinsGAAT | |
17 | g.43070966T>A | CA10591626 | BRCA1 | c.4945A>T (p.Met1649Leu) c.4948A>T (p.Met1650Leu) c.4822A>T (p.Met1608Leu) c.4942A>T (p.Met1648Leu) c.4870A>T (p.Met1624Leu) c.1636A>T (p.Met546Leu) c.1498A>T (p.Met500Leu) c.4060A>T (p.Met1354Leu) c.4825A>T (p.Met1609Leu) c.5014A>T (p.Met1672Leu) c.4807A>T (p.Met1603Leu) c.1510A>T (p.Met504Leu) c.1555A>T (p.Met519Leu) c.5011A>T (p.Met1671Leu) c.1335A>T c.1522A>T (p.Met508Leu) c.*4731A>T (n.*4731A>T) n.101A>T c.1261A>T (p.Met421Leu) c.5-7015A>T (n.5-7015A>T) c.421A>T (p.Met141Leu) c.-98-20776A>T (n.-98-20776A>T) n.5084A>T n.5125A>T | ClinVar dbSNP |
17 | g.43070966T>C | CA10591627 | BRCA1 | c.4945A>G (p.Met1649Val) c.4948A>G (p.Met1650Val) c.4822A>G (p.Met1608Val) c.4942A>G (p.Met1648Val) c.4870A>G (p.Met1624Val) c.1636A>G (p.Met546Val) c.1498A>G (p.Met500Val) c.4060A>G (p.Met1354Val) c.4825A>G (p.Met1609Val) c.5014A>G (p.Met1672Val) c.4807A>G (p.Met1603Val) c.1510A>G (p.Met504Val) c.1555A>G (p.Met519Val) c.5011A>G (p.Met1671Val) c.1335A>G c.1522A>G (p.Met508Val) c.*4731A>G (n.*4731A>G) n.101A>G c.1261A>G (p.Met421Val) c.5-7015A>G (n.5-7015A>G) c.421A>G (p.Met141Val) c.-98-20776A>G (n.-98-20776A>G) n.5084A>G n.5125A>G | ClinVar dbSNP |
17 | g.43070966T>G | CA10591628 | BRCA1 | c.4945A>C (p.Met1649Leu) c.4948A>C (p.Met1650Leu) c.4822A>C (p.Met1608Leu) c.4942A>C (p.Met1648Leu) c.4870A>C (p.Met1624Leu) c.1636A>C (p.Met546Leu) c.1498A>C (p.Met500Leu) c.4060A>C (p.Met1354Leu) c.4825A>C (p.Met1609Leu) c.5014A>C (p.Met1672Leu) c.4807A>C (p.Met1603Leu) c.1510A>C (p.Met504Leu) c.1555A>C (p.Met519Leu) c.5011A>C (p.Met1671Leu) c.1335A>C c.1522A>C (p.Met508Leu) c.*4731A>C (n.*4731A>C) n.101A>C c.1261A>C (p.Met421Leu) c.5-7015A>C (n.5-7015A>C) c.421A>C (p.Met141Leu) c.-98-20776A>C (n.-98-20776A>C) n.5084A>C n.5125A>C | ClinVar dbSNP |
17 | g.43070966T= | CA2260772777 | BRCA1 | c.4945A= (p.Met1649=) c.4948A= (p.Met1650=) c.4822A= (p.Met1608=) c.4942A= (p.Met1648=) c.4870A= (p.Met1624=) c.1636A= (p.Met546=) c.1498A= (p.Met500=) c.4060A= (p.Met1354=) c.4825A= (p.Met1609=) c.5014A= (p.Met1672=) c.4807A= (p.Met1603=) c.1510A= (p.Met504=) c.1555A= (p.Met519=) c.5011A= (p.Met1671=) c.1335A= c.1522A= (p.Met508=) c.*4731A= (n.*4731A=) n.101A= c.1261A= (p.Met421=) c.5-7015A= (n.5-7015A=) c.421A= (p.Met141=) c.-98-20776A= (n.-98-20776A=) n.5084A= n.5125A= | |
17 | g.43070966_43070969delinsTTCT | CA2260772778 | BRCA1 | c.4942_4945delinsAGAA (p.Arg1648=) c.4945_4948delinsAGAA (p.Arg1649=) c.4819_4822delinsAGAA (p.Arg1607=) c.4939_4942delinsAGAA (p.Arg1647=) c.4867_4870delinsAGAA (p.Arg1623=) c.1633_1636delinsAGAA (p.Arg545=) c.1495_1498delinsAGAA (p.Arg499=) c.4057_4060delinsAGAA (p.Arg1353=) c.4822_4825delinsAGAA (p.Arg1608=) c.5011_5014delinsAGAA (p.Arg1671=) c.4804_4807delinsAGAA (p.Arg1602=) c.1507_1510delinsAGAA (p.Arg503=) c.1552_1555delinsAGAA (p.Arg518=) c.5008_5011delinsAGAA (p.Arg1670=) c.1332_1335delinsAGAA c.1519_1522delinsAGAA (p.Arg507=) c.*4728_*4731delinsAGAA (n.*4728_*4731delinsAGAA) n.98_101delinsAGAA c.1258_1261delinsAGAA (p.Arg420=) c.5-7018_5-7015delinsAGAA (n.5-7018_5-7015delinsAGAA) c.418_421delinsAGAA (p.Arg140=) c.-98-20779_-98-20776delinsAGAA (n.-98-20779_-98-20776delinsAGAA) n.5081_5084delinsAGAA n.5122_5125delinsAGAA | |
17 | g.43070968_43070970del | CA915950103 | BRCA1 | c.4943_4945del (p.Arg1648del) c.4946_4948del (p.Arg1649del) c.4820_4822del (p.Arg1607del) c.4940_4942del (p.Arg1647del) c.4868_4870del (p.Arg1623del) c.1634_1636del (p.Arg545del) c.1496_1498del (p.Arg499del) c.4058_4060del (p.Arg1353del) c.4823_4825del (p.Arg1608del) c.5012_5014del (p.Arg1671del) c.4805_4807del (p.Arg1602del) c.1508_1510del (p.Arg503del) c.1553_1555del (p.Arg518del) c.5009_5011del (p.Arg1670del) c.1333_1335del c.1520_1522del (p.Arg507del) c.*4729_*4731del (n.*4729_*4731del) n.99_101del c.1259_1261del (p.Arg420del) c.5-7017_5-7015del (n.5-7017_5-7015del) c.419_421del (p.Arg140del) c.-98-20778_-98-20776del (n.-98-20778_-98-20776del) n.5082_5084del n.5123_5125del | ClinVar dbSNP gnomAD v4 |
17 | g.43070966_43070967insA | CA2499224389 | BRCA1 | c.4944_4945insT (p.Met1649TyrfsTer29) c.4947_4948insT (p.Met1650TyrfsTer29) c.4821_4822insT (p.Met1608TyrfsTer29) c.4941_4942insT (p.Met1648TyrfsTer29) c.4869_4870insT (p.Met1624TyrfsTer29) c.1635_1636insT (p.Met546TyrfsTer29) c.1497_1498insT (p.Met500TyrfsTer29) c.4059_4060insT (p.Met1354TyrfsTer29) c.4824_4825insT (p.Met1609TyrfsTer29) c.5013_5014insT (p.Met1672TyrfsTer29) c.4806_4807insT (p.Met1603TyrfsTer29) c.1509_1510insT (p.Met504TyrfsTer29) c.1554_1555insT (p.Met519TyrfsTer25) c.5010_5011insT (p.Met1671TyrfsTer29) c.1334_1335insT c.1521_1522insT (p.Met508TyrfsTer29) c.*4730_*4731insT (n.*4730_*4731insT) n.100_101insT c.1260_1261insT (p.Met421TyrfsTer29) c.5-7016_5-7015insT (n.5-7016_5-7015insT) c.420_421insT (p.Met141TyrfsTer29) c.-98-20777_-98-20776insT (n.-98-20777_-98-20776insT) n.5083_5084insT n.5124_5125insT | ClinVar dbSNP |
17 | g.43070967T>A | CA10591629 | BRCA1 | c.4944A>T (p.Arg1648Ser) c.4947A>T (p.Arg1649Ser) c.4821A>T (p.Arg1607Ser) c.4941A>T (p.Arg1647Ser) c.4869A>T (p.Arg1623Ser) c.1635A>T (p.Arg545Ser) c.1497A>T (p.Arg499Ser) c.4059A>T (p.Arg1353Ser) c.4824A>T (p.Arg1608Ser) c.5013A>T (p.Arg1671Ser) c.4806A>T (p.Arg1602Ser) c.1509A>T (p.Arg503Ser) c.1554A>T (p.Arg518Ser) c.5010A>T (p.Arg1670Ser) c.1334A>T c.1521A>T (p.Arg507Ser) c.*4730A>T (n.*4730A>T) n.100A>T c.1260A>T (p.Arg420Ser) c.5-7016A>T (n.5-7016A>T) c.420A>T (p.Arg140Ser) c.-98-20777A>T (n.-98-20777A>T) n.5083A>T n.5124A>T | ClinVar dbSNP |
17 | g.43070967T>C | CA500231591 | BRCA1 | c.4944A>G (p.Arg1648=) c.4947A>G (p.Arg1649=) c.4821A>G (p.Arg1607=) c.4941A>G (p.Arg1647=) c.4869A>G (p.Arg1623=) c.1635A>G (p.Arg545=) c.1497A>G (p.Arg499=) c.4059A>G (p.Arg1353=) c.4824A>G (p.Arg1608=) c.5013A>G (p.Arg1671=) c.4806A>G (p.Arg1602=) c.1509A>G (p.Arg503=) c.1554A>G (p.Arg518=) c.5010A>G (p.Arg1670=) c.1334A>G c.1521A>G (p.Arg507=) c.*4730A>G (n.*4730A>G) n.100A>G c.1260A>G (p.Arg420=) c.5-7016A>G (n.5-7016A>G) c.420A>G (p.Arg140=) c.-98-20777A>G (n.-98-20777A>G) n.5083A>G n.5124A>G | ClinVar dbSNP |
17 | g.43070967T>G | CA10591630 | BRCA1 | c.4944A>C (p.Arg1648Ser) c.4947A>C (p.Arg1649Ser) c.4821A>C (p.Arg1607Ser) c.4941A>C (p.Arg1647Ser) c.4869A>C (p.Arg1623Ser) c.1635A>C (p.Arg545Ser) c.1497A>C (p.Arg499Ser) c.4059A>C (p.Arg1353Ser) c.4824A>C (p.Arg1608Ser) c.5013A>C (p.Arg1671Ser) c.4806A>C (p.Arg1602Ser) c.1509A>C (p.Arg503Ser) c.1554A>C (p.Arg518Ser) c.5010A>C (p.Arg1670Ser) c.1334A>C c.1521A>C (p.Arg507Ser) c.*4730A>C (n.*4730A>C) n.100A>C c.1260A>C (p.Arg420Ser) c.5-7016A>C (n.5-7016A>C) c.420A>C (p.Arg140Ser) c.-98-20777A>C (n.-98-20777A>C) n.5083A>C n.5124A>C | ClinVar dbSNP |
17 | g.43070967T= | CA2260772779 | BRCA1 | c.4944A= (p.Arg1648=) c.4947A= (p.Arg1649=) c.4821A= (p.Arg1607=) c.4941A= (p.Arg1647=) c.4869A= (p.Arg1623=) c.1635A= (p.Arg545=) c.1497A= (p.Arg499=) c.4059A= (p.Arg1353=) c.4824A= (p.Arg1608=) c.5013A= (p.Arg1671=) c.4806A= (p.Arg1602=) c.1509A= (p.Arg503=) c.1554A= (p.Arg518=) c.5010A= (p.Arg1670=) c.1334A= c.1521A= (p.Arg507=) c.*4730A= (n.*4730A=) n.100A= c.1260A= (p.Arg420=) c.5-7016A= (n.5-7016A=) c.420A= (p.Arg140=) c.-98-20777A= (n.-98-20777A=) n.5083A= n.5124A= | |
17 | g.43070967_43070969delinsAAAA | CA003097 | BRCA1 | c.4942_4944delinsTTTT (p.Arg1648PhefsTer30) c.4945_4947delinsTTTT (p.Arg1649PhefsTer30) c.4819_4821delinsTTTT (p.Arg1607PhefsTer30) c.4939_4941delinsTTTT (p.Arg1647PhefsTer30) c.4867_4869delinsTTTT (p.Arg1623PhefsTer30) c.1633_1635delinsTTTT (p.Arg545PhefsTer30) c.1495_1497delinsTTTT (p.Arg499PhefsTer30) c.4057_4059delinsTTTT (p.Arg1353PhefsTer30) c.4822_4824delinsTTTT (p.Arg1608PhefsTer30) c.5011_5013delinsTTTT (p.Arg1671PhefsTer30) c.4804_4806delinsTTTT (p.Arg1602PhefsTer30) c.1507_1509delinsTTTT (p.Arg503PhefsTer30) c.1552_1554delinsTTTT (p.Arg518PhefsTer26) c.5008_5010delinsTTTT (p.Arg1670PhefsTer30) c.1332_1334delinsTTTT c.1519_1521delinsTTTT (p.Arg507PhefsTer30) c.*4728_*4730delinsTTTT (n.*4728_*4730delinsTTTT) n.98_100delinsTTTT c.1258_1260delinsTTTT (p.Arg420PhefsTer30) c.5-7018_5-7016delinsTTTT (n.5-7018_5-7016delinsTTTT) c.418_420delinsTTTT (p.Arg140PhefsTer30) c.-98-20779_-98-20777delinsTTTT (n.-98-20779_-98-20777delinsTTTT) n.5081_5083delinsTTTT n.5122_5124delinsTTTT | ClinVar dbSNP |
17 | g.43070968C>A | CA10591631 | BRCA1 | c.4943G>T (p.Arg1648Ile) c.4946G>T (p.Arg1649Ile) c.4820G>T (p.Arg1607Ile) c.4940G>T (p.Arg1647Ile) c.4868G>T (p.Arg1623Ile) c.1634G>T (p.Arg545Ile) c.1496G>T (p.Arg499Ile) c.4058G>T (p.Arg1353Ile) c.4823G>T (p.Arg1608Ile) c.5012G>T (p.Arg1671Ile) c.4805G>T (p.Arg1602Ile) c.1508G>T (p.Arg503Ile) c.1553G>T (p.Arg518Ile) c.5009G>T (p.Arg1670Ile) c.1333G>T c.1520G>T (p.Arg507Ile) c.*4729G>T (n.*4729G>T) n.99G>T c.1259G>T (p.Arg420Ile) c.5-7017G>T (n.5-7017G>T) c.419G>T (p.Arg140Ile) c.-98-20778G>T (n.-98-20778G>T) n.5082G>T n.5123G>T | ClinVar dbSNP gnomAD v4 COSMIC |
17 | g.43070968C= | CA2260772781 | BRCA1 | c.4943G= (p.Arg1648=) c.4946G= (p.Arg1649=) c.4820G= (p.Arg1607=) c.4940G= (p.Arg1647=) c.4868G= (p.Arg1623=) c.1634G= (p.Arg545=) c.1496G= (p.Arg499=) c.4058G= (p.Arg1353=) c.4823G= (p.Arg1608=) c.5012G= (p.Arg1671=) c.4805G= (p.Arg1602=) c.1508G= (p.Arg503=) c.1553G= (p.Arg518=) c.5009G= (p.Arg1670=) c.1333G= c.1520G= (p.Arg507=) c.*4729G= (n.*4729G=) n.99G= c.1259G= (p.Arg420=) c.5-7017G= (n.5-7017G=) c.419G= (p.Arg140=) c.-98-20778G= (n.-98-20778G=) n.5082G= n.5123G= | |
17 | g.43070968C>G | CA10580504 | BRCA1 | c.4943G>C (p.Arg1648Thr) c.4946G>C (p.Arg1649Thr) c.4820G>C (p.Arg1607Thr) c.4940G>C (p.Arg1647Thr) c.4868G>C (p.Arg1623Thr) c.1634G>C (p.Arg545Thr) c.1496G>C (p.Arg499Thr) c.4058G>C (p.Arg1353Thr) c.4823G>C (p.Arg1608Thr) c.5012G>C (p.Arg1671Thr) c.4805G>C (p.Arg1602Thr) c.1508G>C (p.Arg503Thr) c.1553G>C (p.Arg518Thr) c.5009G>C (p.Arg1670Thr) c.1333G>C c.1520G>C (p.Arg507Thr) c.*4729G>C (n.*4729G>C) n.99G>C c.1259G>C (p.Arg420Thr) c.5-7017G>C (n.5-7017G>C) c.419G>C (p.Arg140Thr) c.-98-20778G>C (n.-98-20778G>C) n.5082G>C n.5123G>C | ClinVar dbSNP |
17 | g.43070968C>T | CA10591632 | BRCA1 | c.4943G>A (p.Arg1648Lys) c.4946G>A (p.Arg1649Lys) c.4820G>A (p.Arg1607Lys) c.4940G>A (p.Arg1647Lys) c.4868G>A (p.Arg1623Lys) c.1634G>A (p.Arg545Lys) c.1496G>A (p.Arg499Lys) c.4058G>A (p.Arg1353Lys) c.4823G>A (p.Arg1608Lys) c.5012G>A (p.Arg1671Lys) c.4805G>A (p.Arg1602Lys) c.1508G>A (p.Arg503Lys) c.1553G>A (p.Arg518Lys) c.5009G>A (p.Arg1670Lys) c.1333G>A c.1520G>A (p.Arg507Lys) c.*4729G>A (n.*4729G>A) n.99G>A c.1259G>A (p.Arg420Lys) c.5-7017G>A (n.5-7017G>A) c.419G>A (p.Arg140Lys) c.-98-20778G>A (n.-98-20778G>A) n.5082G>A n.5123G>A | ClinVar dbSNP gnomAD v4 COSMIC |
17 | g.43070968_43070970delinsCTT | CA2260772780 | BRCA1 | c.4941_4943delinsAAG (p.Lys1647=) c.4944_4946delinsAAG (p.Lys1648=) c.4818_4820delinsAAG (p.Lys1606=) c.4938_4940delinsAAG (p.Lys1646=) c.4866_4868delinsAAG (p.Lys1622=) c.1632_1634delinsAAG (p.Lys544=) c.1494_1496delinsAAG (p.Lys498=) c.4056_4058delinsAAG (p.Lys1352=) c.4821_4823delinsAAG (p.Lys1607=) c.5010_5012delinsAAG (p.Lys1670=) c.4803_4805delinsAAG (p.Lys1601=) c.1506_1508delinsAAG (p.Lys502=) c.1551_1553delinsAAG (p.Lys517=) c.5007_5009delinsAAG (p.Lys1669=) c.1331_1333delinsAAG c.1518_1520delinsAAG (p.Lys506=) c.*4727_*4729delinsAAG (n.*4727_*4729delinsAAG) n.97_99delinsAAG c.1257_1259delinsAAG (p.Lys419=) c.5-7019_5-7017delinsAAG (n.5-7019_5-7017delinsAAG) c.417_419delinsAAG (p.Lys139=) c.-98-20780_-98-20778delinsAAG (n.-98-20780_-98-20778delinsAAG) n.5080_5082delinsAAG n.5121_5123delinsAAG | |
17 | g.43070969T>A | CA10591633 | BRCA1 | c.4942A>T (p.Arg1648Ter) c.4945A>T (p.Arg1649Ter) c.4819A>T (p.Arg1607Ter) c.4939A>T (p.Arg1647Ter) c.4867A>T (p.Arg1623Ter) c.1633A>T (p.Arg545Ter) c.1495A>T (p.Arg499Ter) c.4057A>T (p.Arg1353Ter) c.4822A>T (p.Arg1608Ter) c.5011A>T (p.Arg1671Ter) c.4804A>T (p.Arg1602Ter) c.1507A>T (p.Arg503Ter) c.1552A>T (p.Arg518Ter) c.5008A>T (p.Arg1670Ter) c.1332A>T c.1519A>T (p.Arg507Ter) c.*4728A>T (n.*4728A>T) n.98A>T c.1258A>T (p.Arg420Ter) c.5-7018A>T (n.5-7018A>T) c.418A>T (p.Arg140Ter) c.-98-20779A>T (n.-98-20779A>T) n.5081A>T n.5122A>T | ClinVar dbSNP |
17 | g.43070969T>C | CA10591634 | BRCA1 | c.4942A>G (p.Arg1648Gly) c.4945A>G (p.Arg1649Gly) c.4819A>G (p.Arg1607Gly) c.4939A>G (p.Arg1647Gly) c.4867A>G (p.Arg1623Gly) c.1633A>G (p.Arg545Gly) c.1495A>G (p.Arg499Gly) c.4057A>G (p.Arg1353Gly) c.4822A>G (p.Arg1608Gly) c.5011A>G (p.Arg1671Gly) c.4804A>G (p.Arg1602Gly) c.1507A>G (p.Arg503Gly) c.1552A>G (p.Arg518Gly) c.5008A>G (p.Arg1670Gly) c.1332A>G c.1519A>G (p.Arg507Gly) c.*4728A>G (n.*4728A>G) n.98A>G c.1258A>G (p.Arg420Gly) c.5-7018A>G (n.5-7018A>G) c.418A>G (p.Arg140Gly) c.-98-20779A>G (n.-98-20779A>G) n.5081A>G n.5122A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.43070969T>G | CA500231595 | BRCA1 | c.4942A>C (p.Arg1648=) c.4945A>C (p.Arg1649=) c.4819A>C (p.Arg1607=) c.4939A>C (p.Arg1647=) c.4867A>C (p.Arg1623=) c.1633A>C (p.Arg545=) c.1495A>C (p.Arg499=) c.4057A>C (p.Arg1353=) c.4822A>C (p.Arg1608=) c.5011A>C (p.Arg1671=) c.4804A>C (p.Arg1602=) c.1507A>C (p.Arg503=) c.1552A>C (p.Arg518=) c.5008A>C (p.Arg1670=) c.1332A>C c.1519A>C (p.Arg507=) c.*4728A>C (n.*4728A>C) n.98A>C c.1258A>C (p.Arg420=) c.5-7018A>C (n.5-7018A>C) c.418A>C (p.Arg140=) c.-98-20779A>C (n.-98-20779A>C) n.5081A>C n.5122A>C | ClinVar dbSNP |
17 | g.43070969T= | CA2260772782 | BRCA1 | c.4942A= (p.Arg1648=) c.4945A= (p.Arg1649=) c.4819A= (p.Arg1607=) c.4939A= (p.Arg1647=) c.4867A= (p.Arg1623=) c.1633A= (p.Arg545=) c.1495A= (p.Arg499=) c.4057A= (p.Arg1353=) c.4822A= (p.Arg1608=) c.5011A= (p.Arg1671=) c.4804A= (p.Arg1602=) c.1507A= (p.Arg503=) c.1552A= (p.Arg518=) c.5008A= (p.Arg1670=) c.1332A= c.1519A= (p.Arg507=) c.*4728A= (n.*4728A=) n.98A= c.1258A= (p.Arg420=) c.5-7018A= (n.5-7018A=) c.418A= (p.Arg140=) c.-98-20779A= (n.-98-20779A=) n.5081A= n.5122A= | |
17 | g.43070972del | CA003094 | BRCA1 | c.4942del (p.Arg1648GlufsTer9) c.4945del (p.Arg1649GlufsTer9) c.4819del (p.Arg1607GlufsTer9) c.4939del (p.Arg1647GlufsTer9) c.4867del (p.Arg1623GlufsTer9) c.1633del (p.Arg545GlufsTer9) c.1495del (p.Arg499GlufsTer9) c.4057del (p.Arg1353GlufsTer9) c.4822del (p.Arg1608GlufsTer9) c.5011del (p.Arg1671GlufsTer9) c.4804del (p.Arg1602GlufsTer9) c.1507del (p.Arg503GlufsTer9) c.1552del (p.Arg518GlufsTer9) c.5008del (p.Arg1670GlufsTer9) c.1332del c.1519del (p.Arg507GlufsTer9) c.*4728del (n.*4728del) n.98del c.1258del (p.Arg420GlufsTer9) c.5-7018del (n.5-7018del) c.418del (p.Arg140GlufsTer9) c.-98-20779del (n.-98-20779del) n.5081del n.5122del | ClinVar dbSNP |
17 | g.43070971_43070972del | CA003095 | BRCA1 | c.4941_4942del (p.Arg1648AsnfsTer29) c.4944_4945del (p.Arg1649AsnfsTer29) c.4818_4819del (p.Arg1607AsnfsTer29) c.4938_4939del (p.Arg1647AsnfsTer29) c.4866_4867del (p.Arg1623AsnfsTer29) c.1632_1633del (p.Arg545AsnfsTer29) c.1494_1495del (p.Arg499AsnfsTer29) c.4056_4057del (p.Arg1353AsnfsTer29) c.4821_4822del (p.Arg1608AsnfsTer29) c.5010_5011del (p.Arg1671AsnfsTer29) c.4803_4804del (p.Arg1602AsnfsTer29) c.1506_1507del (p.Arg503AsnfsTer29) c.1551_1552del (p.Arg518AsnfsTer25) c.5007_5008del (p.Arg1670AsnfsTer29) c.1331_1332del c.1518_1519del (p.Arg507AsnfsTer29) c.*4727_*4728del (n.*4727_*4728del) n.97_98del c.1257_1258del (p.Arg420AsnfsTer29) c.5-7019_5-7018del (n.5-7019_5-7018del) c.417_418del (p.Arg140AsnfsTer29) c.-98-20780_-98-20779del (n.-98-20780_-98-20779del) n.5080_5081del n.5121_5122del | ClinVar dbSNP |
17 | g.43070969_43070970insAAAA | CA915950104 | BRCA1 | c.4941_4942insTTTT (p.Arg1648PhefsTer2) c.4944_4945insTTTT (p.Arg1649PhefsTer2) c.4818_4819insTTTT (p.Arg1607PhefsTer2) c.4938_4939insTTTT (p.Arg1647PhefsTer2) c.4866_4867insTTTT (p.Arg1623PhefsTer2) c.1632_1633insTTTT (p.Arg545PhefsTer2) c.1494_1495insTTTT (p.Arg499PhefsTer2) c.4056_4057insTTTT (p.Arg1353PhefsTer2) c.4821_4822insTTTT (p.Arg1608PhefsTer2) c.5010_5011insTTTT (p.Arg1671PhefsTer2) c.4803_4804insTTTT (p.Arg1602PhefsTer2) c.1506_1507insTTTT (p.Arg503PhefsTer2) c.1551_1552insTTTT (p.Arg518PhefsTer2) c.5007_5008insTTTT (p.Arg1670PhefsTer2) c.1331_1332insTTTT c.1518_1519insTTTT (p.Arg507PhefsTer2) c.*4727_*4728insTTTT (n.*4727_*4728insTTTT) n.97_98insTTTT c.1257_1258insTTTT (p.Arg420PhefsTer2) c.5-7019_5-7018insTTTT (n.5-7019_5-7018insTTTT) c.417_418insTTTT (p.Arg140PhefsTer2) c.-98-20780_-98-20779insTTTT (n.-98-20780_-98-20779insTTTT) n.5080_5081insTTTT n.5121_5122insTTTT | ClinVar dbSNP gnomAD v4 |
17 | g.43070970T>A | CA10591635 | BRCA1 | c.4941A>T (p.Lys1647Asn) c.4944A>T (p.Lys1648Asn) c.4818A>T (p.Lys1606Asn) c.4938A>T (p.Lys1646Asn) c.4866A>T (p.Lys1622Asn) c.1632A>T (p.Lys544Asn) c.1494A>T (p.Lys498Asn) c.4056A>T (p.Lys1352Asn) c.4821A>T (p.Lys1607Asn) c.5010A>T (p.Lys1670Asn) c.4803A>T (p.Lys1601Asn) c.1506A>T (p.Lys502Asn) c.1551A>T (p.Lys517Asn) c.5007A>T (p.Lys1669Asn) c.1331A>T c.1518A>T (p.Lys506Asn) c.*4727A>T (n.*4727A>T) n.97A>T c.1257A>T (p.Lys419Asn) c.5-7019A>T (n.5-7019A>T) c.417A>T (p.Lys139Asn) c.-98-20780A>T (n.-98-20780A>T) n.5080A>T n.5121A>T | ClinVar dbSNP |
17 | g.43070970T>C | CA500231597 | BRCA1 | c.4941A>G (p.Lys1647=) c.4944A>G (p.Lys1648=) c.4818A>G (p.Lys1606=) c.4938A>G (p.Lys1646=) c.4866A>G (p.Lys1622=) c.1632A>G (p.Lys544=) c.1494A>G (p.Lys498=) c.4056A>G (p.Lys1352=) c.4821A>G (p.Lys1607=) c.5010A>G (p.Lys1670=) c.4803A>G (p.Lys1601=) c.1506A>G (p.Lys502=) c.1551A>G (p.Lys517=) c.5007A>G (p.Lys1669=) c.1331A>G c.1518A>G (p.Lys506=) c.*4727A>G (n.*4727A>G) n.97A>G c.1257A>G (p.Lys419=) c.5-7019A>G (n.5-7019A>G) c.417A>G (p.Lys139=) c.-98-20780A>G (n.-98-20780A>G) n.5080A>G n.5121A>G | ClinVar dbSNP |
17 | g.43070970T>G | CA10591636 | BRCA1 | c.4941A>C (p.Lys1647Asn) c.4944A>C (p.Lys1648Asn) c.4818A>C (p.Lys1606Asn) c.4938A>C (p.Lys1646Asn) c.4866A>C (p.Lys1622Asn) c.1632A>C (p.Lys544Asn) c.1494A>C (p.Lys498Asn) c.4056A>C (p.Lys1352Asn) c.4821A>C (p.Lys1607Asn) c.5010A>C (p.Lys1670Asn) c.4803A>C (p.Lys1601Asn) c.1506A>C (p.Lys502Asn) c.1551A>C (p.Lys517Asn) c.5007A>C (p.Lys1669Asn) c.1331A>C c.1518A>C (p.Lys506Asn) c.*4727A>C (n.*4727A>C) n.97A>C c.1257A>C (p.Lys419Asn) c.5-7019A>C (n.5-7019A>C) c.417A>C (p.Lys139Asn) c.-98-20780A>C (n.-98-20780A>C) n.5080A>C n.5121A>C | ClinVar dbSNP |
17 | g.43070970T= | CA2260772783 | BRCA1 | c.4941A= (p.Lys1647=) c.4944A= (p.Lys1648=) c.4818A= (p.Lys1606=) c.4938A= (p.Lys1646=) c.4866A= (p.Lys1622=) c.1632A= (p.Lys544=) c.1494A= (p.Lys498=) c.4056A= (p.Lys1352=) c.4821A= (p.Lys1607=) c.5010A= (p.Lys1670=) c.4803A= (p.Lys1601=) c.1506A= (p.Lys502=) c.1551A= (p.Lys517=) c.5007A= (p.Lys1669=) c.1331A= c.1518A= (p.Lys506=) c.*4727A= (n.*4727A=) n.97A= c.1257A= (p.Lys419=) c.5-7019A= (n.5-7019A=) c.417A= (p.Lys139=) c.-98-20780A= (n.-98-20780A=) n.5080A= n.5121A= | |
17 | g.43070971T>A | CA10591637 | BRCA1 | c.4940A>T (p.Lys1647Ile) c.4943A>T (p.Lys1648Ile) c.4817A>T (p.Lys1606Ile) c.4937A>T (p.Lys1646Ile) c.4865A>T (p.Lys1622Ile) c.1631A>T (p.Lys544Ile) c.1493A>T (p.Lys498Ile) c.4055A>T (p.Lys1352Ile) c.4820A>T (p.Lys1607Ile) c.5009A>T (p.Lys1670Ile) c.4802A>T (p.Lys1601Ile) c.1505A>T (p.Lys502Ile) c.1550A>T (p.Lys517Ile) c.5006A>T (p.Lys1669Ile) c.1330A>T c.1517A>T (p.Lys506Ile) c.*4726A>T (n.*4726A>T) n.96A>T c.1256A>T (p.Lys419Ile) c.5-7020A>T (n.5-7020A>T) c.416A>T (p.Lys139Ile) c.-98-20781A>T (n.-98-20781A>T) n.5079A>T n.5120A>T | ClinVar dbSNP |
17 | g.43070971T>C | CA10591638 | BRCA1 | c.4940A>G (p.Lys1647Arg) c.4943A>G (p.Lys1648Arg) c.4817A>G (p.Lys1606Arg) c.4937A>G (p.Lys1646Arg) c.4865A>G (p.Lys1622Arg) c.1631A>G (p.Lys544Arg) c.1493A>G (p.Lys498Arg) c.4055A>G (p.Lys1352Arg) c.4820A>G (p.Lys1607Arg) c.5009A>G (p.Lys1670Arg) c.4802A>G (p.Lys1601Arg) c.1505A>G (p.Lys502Arg) c.1550A>G (p.Lys517Arg) c.5006A>G (p.Lys1669Arg) c.1330A>G c.1517A>G (p.Lys506Arg) c.*4726A>G (n.*4726A>G) n.96A>G c.1256A>G (p.Lys419Arg) c.5-7020A>G (n.5-7020A>G) c.416A>G (p.Lys139Arg) c.-98-20781A>G (n.-98-20781A>G) n.5079A>G n.5120A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.43070971T>G | CA10591639 | BRCA1 | c.4940A>C (p.Lys1647Thr) c.4943A>C (p.Lys1648Thr) c.4817A>C (p.Lys1606Thr) c.4937A>C (p.Lys1646Thr) c.4865A>C (p.Lys1622Thr) c.1631A>C (p.Lys544Thr) c.1493A>C (p.Lys498Thr) c.4055A>C (p.Lys1352Thr) c.4820A>C (p.Lys1607Thr) c.5009A>C (p.Lys1670Thr) c.4802A>C (p.Lys1601Thr) c.1505A>C (p.Lys502Thr) c.1550A>C (p.Lys517Thr) c.5006A>C (p.Lys1669Thr) c.1330A>C c.1517A>C (p.Lys506Thr) c.*4726A>C (n.*4726A>C) n.96A>C c.1256A>C (p.Lys419Thr) c.5-7020A>C (n.5-7020A>C) c.416A>C (p.Lys139Thr) c.-98-20781A>C (n.-98-20781A>C) n.5079A>C n.5120A>C | ClinVar dbSNP |
17 | g.43070971T= | CA2260772784 | BRCA1 | c.4940A= (p.Lys1647=) c.4943A= (p.Lys1648=) c.4817A= (p.Lys1606=) c.4937A= (p.Lys1646=) c.4865A= (p.Lys1622=) c.1631A= (p.Lys544=) c.1493A= (p.Lys498=) c.4055A= (p.Lys1352=) c.4820A= (p.Lys1607=) c.5009A= (p.Lys1670=) c.4802A= (p.Lys1601=) c.1505A= (p.Lys502=) c.1550A= (p.Lys517=) c.5006A= (p.Lys1669=) c.1330A= c.1517A= (p.Lys506=) c.*4726A= (n.*4726A=) n.96A= c.1256A= (p.Lys419=) c.5-7020A= (n.5-7020A=) c.416A= (p.Lys139=) c.-98-20781A= (n.-98-20781A=) n.5079A= n.5120A= | |
17 | g.43070972T>A | CA10591640 | BRCA1 | c.4939A>T (p.Lys1647Ter) c.4942A>T (p.Lys1648Ter) c.4816A>T (p.Lys1606Ter) c.4936A>T (p.Lys1646Ter) c.4864A>T (p.Lys1622Ter) c.1630A>T (p.Lys544Ter) c.1492A>T (p.Lys498Ter) c.4054A>T (p.Lys1352Ter) c.4819A>T (p.Lys1607Ter) c.5008A>T (p.Lys1670Ter) c.4801A>T (p.Lys1601Ter) c.1504A>T (p.Lys502Ter) c.1549A>T (p.Lys517Ter) c.5005A>T (p.Lys1669Ter) c.1329A>T c.1516A>T (p.Lys506Ter) c.*4725A>T (n.*4725A>T) n.95A>T c.1255A>T (p.Lys419Ter) c.5-7021A>T (n.5-7021A>T) c.415A>T (p.Lys139Ter) c.-98-20782A>T (n.-98-20782A>T) n.5078A>T n.5119A>T | ClinVar dbSNP |
17 | g.43070972T>C | CA053462 | BRCA1 | c.4939A>G (p.Lys1647Glu) c.4942A>G (p.Lys1648Glu) c.4816A>G (p.Lys1606Glu) c.4936A>G (p.Lys1646Glu) c.4864A>G (p.Lys1622Glu) c.1630A>G (p.Lys544Glu) c.1492A>G (p.Lys498Glu) c.4054A>G (p.Lys1352Glu) c.4819A>G (p.Lys1607Glu) c.5008A>G (p.Lys1670Glu) c.4801A>G (p.Lys1601Glu) c.1504A>G (p.Lys502Glu) c.1549A>G (p.Lys517Glu) c.5005A>G (p.Lys1669Glu) c.1329A>G c.1516A>G (p.Lys506Glu) c.*4725A>G (n.*4725A>G) n.95A>G c.1255A>G (p.Lys419Glu) c.5-7021A>G (n.5-7021A>G) c.415A>G (p.Lys139Glu) c.-98-20782A>G (n.-98-20782A>G) n.5078A>G n.5119A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43070972T>G | CA10591641 | BRCA1 | c.4939A>C (p.Lys1647Gln) c.4942A>C (p.Lys1648Gln) c.4816A>C (p.Lys1606Gln) c.4936A>C (p.Lys1646Gln) c.4864A>C (p.Lys1622Gln) c.1630A>C (p.Lys544Gln) c.1492A>C (p.Lys498Gln) c.4054A>C (p.Lys1352Gln) c.4819A>C (p.Lys1607Gln) c.5008A>C (p.Lys1670Gln) c.4801A>C (p.Lys1601Gln) c.1504A>C (p.Lys502Gln) c.1549A>C (p.Lys517Gln) c.5005A>C (p.Lys1669Gln) c.1329A>C c.1516A>C (p.Lys506Gln) c.*4725A>C (n.*4725A>C) n.95A>C c.1255A>C (p.Lys419Gln) c.5-7021A>C (n.5-7021A>C) c.415A>C (p.Lys139Gln) c.-98-20782A>C (n.-98-20782A>C) n.5078A>C n.5119A>C | ClinVar dbSNP |
17 | g.43070972T= | CA2260772785 | BRCA1 | c.4939A= (p.Lys1647=) c.4942A= (p.Lys1648=) c.4816A= (p.Lys1606=) c.4936A= (p.Lys1646=) c.4864A= (p.Lys1622=) c.1630A= (p.Lys544=) c.1492A= (p.Lys498=) c.4054A= (p.Lys1352=) c.4819A= (p.Lys1607=) c.5008A= (p.Lys1670=) c.4801A= (p.Lys1601=) c.1504A= (p.Lys502=) c.1549A= (p.Lys517=) c.5005A= (p.Lys1669=) c.1329A= c.1516A= (p.Lys506=) c.*4725A= (n.*4725A=) n.95A= c.1255A= (p.Lys419=) c.5-7021A= (n.5-7021A=) c.415A= (p.Lys139=) c.-98-20782A= (n.-98-20782A=) n.5078A= n.5119A= | |
17 | g.43070972_43070973delinsTG | CA2260772787 | BRCA1 | c.4938_4939delinsCA (p.Asn1646=) c.4941_4942delinsCA (p.Asn1647=) c.4815_4816delinsCA (p.Asn1605=) c.4935_4936delinsCA (p.Asn1645=) c.4863_4864delinsCA (p.Asn1621=) c.1629_1630delinsCA (p.Asn543=) c.1491_1492delinsCA (p.Asn497=) c.4053_4054delinsCA (p.Asn1351=) c.4818_4819delinsCA (p.Asn1606=) c.5007_5008delinsCA (p.Asn1669=) c.4800_4801delinsCA (p.Asn1600=) c.1503_1504delinsCA (p.Asn501=) c.1548_1549delinsCA (p.Asn516=) c.5004_5005delinsCA (p.Asn1668=) c.1328_1329delinsCA c.1515_1516delinsCA (p.Asn505=) c.*4724_*4725delinsCA (n.*4724_*4725delinsCA) n.94_95delinsCA c.1254_1255delinsCA (p.Asn418=) c.5-7022_5-7021delinsCA (n.5-7022_5-7021delinsCA) c.414_415delinsCA (p.Asn138=) c.-98-20783_-98-20782delinsCA (n.-98-20783_-98-20782delinsCA) n.5077_5078delinsCA n.5118_5119delinsCA | |
17 | g.43070972_43071054delinsTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCA | CA2260772786 | BRCA1 | c.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 | |
17 | g.43070973del | CA003093 | BRCA1 | c.4938del (p.Asn1646LysfsTer11) c.4941del (p.Asn1647LysfsTer11) c.4815del (p.Asn1605LysfsTer11) c.4935del (p.Asn1645LysfsTer11) c.4863del (p.Asn1621LysfsTer11) c.1629del (p.Asn543LysfsTer11) c.1491del (p.Asn497LysfsTer11) c.4053del (p.Asn1351LysfsTer11) c.4818del (p.Asn1606LysfsTer11) c.5007del (p.Asn1669LysfsTer11) c.4800del (p.Asn1600LysfsTer11) c.1503del (p.Asn501LysfsTer11) c.1548del (p.Asn516LysfsTer11) c.5004del (p.Asn1668LysfsTer11) c.1328del c.1515del (p.Asn505LysfsTer11) c.*4724del (n.*4724del) n.94del c.1254del (p.Asn418LysfsTer11) c.5-7022del (n.5-7022del) c.414del (p.Asn138LysfsTer11) c.-98-20783del (n.-98-20783del) n.5077del n.5118del | ClinVar dbSNP |
17 | g.43070973G>A | CA500231606 | BRCA1 | c.4938C>T (p.Asn1646=) c.4941C>T (p.Asn1647=) c.4815C>T (p.Asn1605=) c.4935C>T (p.Asn1645=) c.4863C>T (p.Asn1621=) c.1629C>T (p.Asn543=) c.1491C>T (p.Asn497=) c.4053C>T (p.Asn1351=) c.4818C>T (p.Asn1606=) c.5007C>T (p.Asn1669=) c.4800C>T (p.Asn1600=) c.1503C>T (p.Asn501=) c.1548C>T (p.Asn516=) c.5004C>T (p.Asn1668=) c.1328C>T c.1515C>T (p.Asn505=) c.*4724C>T (n.*4724C>T) n.94C>T c.1254C>T (p.Asn418=) c.5-7022C>T (n.5-7022C>T) c.414C>T (p.Asn138=) c.-98-20783C>T (n.-98-20783C>T) n.5077C>T n.5118C>T | ClinVar dbSNP |
17 | g.43070973G>C | CA10591642 | BRCA1 | c.4938C>G (p.Asn1646Lys) c.4941C>G (p.Asn1647Lys) c.4815C>G (p.Asn1605Lys) c.4935C>G (p.Asn1645Lys) c.4863C>G (p.Asn1621Lys) c.1629C>G (p.Asn543Lys) c.1491C>G (p.Asn497Lys) c.4053C>G (p.Asn1351Lys) c.4818C>G (p.Asn1606Lys) c.5007C>G (p.Asn1669Lys) c.4800C>G (p.Asn1600Lys) c.1503C>G (p.Asn501Lys) c.1548C>G (p.Asn516Lys) c.5004C>G (p.Asn1668Lys) c.1328C>G c.1515C>G (p.Asn505Lys) c.*4724C>G (n.*4724C>G) n.94C>G c.1254C>G (p.Asn418Lys) c.5-7022C>G (n.5-7022C>G) c.414C>G (p.Asn138Lys) c.-98-20783C>G (n.-98-20783C>G) n.5077C>G n.5118C>G | ClinVar dbSNP gnomAD v4 |
17 | g.43070973G= | CA2260772788 | BRCA1 | c.4938C= (p.Asn1646=) c.4941C= (p.Asn1647=) c.4815C= (p.Asn1605=) c.4935C= (p.Asn1645=) c.4863C= (p.Asn1621=) c.1629C= (p.Asn543=) c.1491C= (p.Asn497=) c.4053C= (p.Asn1351=) c.4818C= (p.Asn1606=) c.5007C= (p.Asn1669=) c.4800C= (p.Asn1600=) c.1503C= (p.Asn501=) c.1548C= (p.Asn516=) c.5004C= (p.Asn1668=) c.1328C= c.1515C= (p.Asn505=) c.*4724C= (n.*4724C=) n.94C= c.1254C= (p.Asn418=) c.5-7022C= (n.5-7022C=) c.414C= (p.Asn138=) c.-98-20783C= (n.-98-20783C=) n.5077C= n.5118C= | |
17 | g.43070973G>T | CA003092 | BRCA1 | c.4938C>A (p.Asn1646Lys) c.4941C>A (p.Asn1647Lys) c.4815C>A (p.Asn1605Lys) c.4935C>A (p.Asn1645Lys) c.4863C>A (p.Asn1621Lys) c.1629C>A (p.Asn543Lys) c.1491C>A (p.Asn497Lys) c.4053C>A (p.Asn1351Lys) c.4818C>A (p.Asn1606Lys) c.5007C>A (p.Asn1669Lys) c.4800C>A (p.Asn1600Lys) c.1503C>A (p.Asn501Lys) c.1548C>A (p.Asn516Lys) c.5004C>A (p.Asn1668Lys) c.1328C>A c.1515C>A (p.Asn505Lys) c.*4724C>A (n.*4724C>A) n.94C>A c.1254C>A (p.Asn418Lys) c.5-7022C>A (n.5-7022C>A) c.414C>A (p.Asn138Lys) c.-98-20783C>A (n.-98-20783C>A) n.5077C>A n.5118C>A | ClinVar dbSNP gnomAD v4 |
17 | g.43070975_43071056del | CA10589635 | BRCA1 | c.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 |
17 | g.43070974T>A | CA10591643 | BRCA1 | c.4937A>T (p.Asn1646Ile) c.4940A>T (p.Asn1647Ile) c.4814A>T (p.Asn1605Ile) c.4934A>T (p.Asn1645Ile) c.4862A>T (p.Asn1621Ile) c.1628A>T (p.Asn543Ile) c.1490A>T (p.Asn497Ile) c.4052A>T (p.Asn1351Ile) c.4817A>T (p.Asn1606Ile) c.5006A>T (p.Asn1669Ile) c.4799A>T (p.Asn1600Ile) c.1502A>T (p.Asn501Ile) c.1547A>T (p.Asn516Ile) c.5003A>T (p.Asn1668Ile) c.1327A>T c.1514A>T (p.Asn505Ile) c.*4723A>T (n.*4723A>T) n.93A>T c.1253A>T (p.Asn418Ile) c.5-7023A>T (n.5-7023A>T) c.413A>T (p.Asn138Ile) c.-98-20784A>T (n.-98-20784A>T) n.5076A>T n.5117A>T | ClinVar dbSNP |
17 | g.43070974T>C | CA10591644 | BRCA1 | c.4937A>G (p.Asn1646Ser) c.4940A>G (p.Asn1647Ser) c.4814A>G (p.Asn1605Ser) c.4934A>G (p.Asn1645Ser) c.4862A>G (p.Asn1621Ser) c.1628A>G (p.Asn543Ser) c.1490A>G (p.Asn497Ser) c.4052A>G (p.Asn1351Ser) c.4817A>G (p.Asn1606Ser) c.5006A>G (p.Asn1669Ser) c.4799A>G (p.Asn1600Ser) c.1502A>G (p.Asn501Ser) c.1547A>G (p.Asn516Ser) c.5003A>G (p.Asn1668Ser) c.1327A>G c.1514A>G (p.Asn505Ser) c.*4723A>G (n.*4723A>G) n.93A>G c.1253A>G (p.Asn418Ser) c.5-7023A>G (n.5-7023A>G) c.413A>G (p.Asn138Ser) c.-98-20784A>G (n.-98-20784A>G) n.5076A>G n.5117A>G | ClinVar dbSNP |
17 | g.43070974T>G | CA10591645 | BRCA1 | c.4937A>C (p.Asn1646Thr) c.4940A>C (p.Asn1647Thr) c.4814A>C (p.Asn1605Thr) c.4934A>C (p.Asn1645Thr) c.4862A>C (p.Asn1621Thr) c.1628A>C (p.Asn543Thr) c.1490A>C (p.Asn497Thr) c.4052A>C (p.Asn1351Thr) c.4817A>C (p.Asn1606Thr) c.5006A>C (p.Asn1669Thr) c.4799A>C (p.Asn1600Thr) c.1502A>C (p.Asn501Thr) c.1547A>C (p.Asn516Thr) c.5003A>C (p.Asn1668Thr) c.1327A>C c.1514A>C (p.Asn505Thr) c.*4723A>C (n.*4723A>C) n.93A>C c.1253A>C (p.Asn418Thr) c.5-7023A>C (n.5-7023A>C) c.413A>C (p.Asn138Thr) c.-98-20784A>C (n.-98-20784A>C) n.5076A>C n.5117A>C | ClinVar dbSNP |
17 | g.43070974T= | CA2260772789 | BRCA1 | c.4937A= (p.Asn1646=) c.4940A= (p.Asn1647=) c.4814A= (p.Asn1605=) c.4934A= (p.Asn1645=) c.4862A= (p.Asn1621=) c.1628A= (p.Asn543=) c.1490A= (p.Asn497=) c.4052A= (p.Asn1351=) c.4817A= (p.Asn1606=) c.5006A= (p.Asn1669=) c.4799A= (p.Asn1600=) c.1502A= (p.Asn501=) c.1547A= (p.Asn516=) c.5003A= (p.Asn1668=) c.1327A= c.1514A= (p.Asn505=) c.*4723A= (n.*4723A=) n.93A= c.1253A= (p.Asn418=) c.5-7023A= (n.5-7023A=) c.413A= (p.Asn138=) c.-98-20784A= (n.-98-20784A=) n.5076A= n.5117A= | |
17 | g.43070975T>A | CA10591646 | BRCA1 | c.4936A>T (p.Asn1646Tyr) c.4939A>T (p.Asn1647Tyr) c.4813A>T (p.Asn1605Tyr) c.4933A>T (p.Asn1645Tyr) c.4861A>T (p.Asn1621Tyr) c.1627A>T (p.Asn543Tyr) c.1489A>T (p.Asn497Tyr) c.4051A>T (p.Asn1351Tyr) c.4816A>T (p.Asn1606Tyr) c.5005A>T (p.Asn1669Tyr) c.4798A>T (p.Asn1600Tyr) c.1501A>T (p.Asn501Tyr) c.1546A>T (p.Asn516Tyr) c.5002A>T (p.Asn1668Tyr) c.1326A>T c.1513A>T (p.Asn505Tyr) c.*4722A>T (n.*4722A>T) n.92A>T c.1252A>T (p.Asn418Tyr) c.5-7024A>T (n.5-7024A>T) c.412A>T (p.Asn138Tyr) c.-98-20785A>T (n.-98-20785A>T) n.5075A>T n.5116A>T | ClinVar dbSNP |
17 | g.43070975T>C | CA10591647 | BRCA1 | c.4936A>G (p.Asn1646Asp) c.4939A>G (p.Asn1647Asp) c.4813A>G (p.Asn1605Asp) c.4933A>G (p.Asn1645Asp) c.4861A>G (p.Asn1621Asp) c.1627A>G (p.Asn543Asp) c.1489A>G (p.Asn497Asp) c.4051A>G (p.Asn1351Asp) c.4816A>G (p.Asn1606Asp) c.5005A>G (p.Asn1669Asp) c.4798A>G (p.Asn1600Asp) c.1501A>G (p.Asn501Asp) c.1546A>G (p.Asn516Asp) c.5002A>G (p.Asn1668Asp) c.1326A>G c.1513A>G (p.Asn505Asp) c.*4722A>G (n.*4722A>G) n.92A>G c.1252A>G (p.Asn418Asp) c.5-7024A>G (n.5-7024A>G) c.412A>G (p.Asn138Asp) c.-98-20785A>G (n.-98-20785A>G) n.5075A>G n.5116A>G | ClinVar dbSNP |
17 | g.43070975T>G | CA10591648 | BRCA1 | c.4936A>C (p.Asn1646His) c.4939A>C (p.Asn1647His) c.4813A>C (p.Asn1605His) c.4933A>C (p.Asn1645His) c.4861A>C (p.Asn1621His) c.1627A>C (p.Asn543His) c.1489A>C (p.Asn497His) c.4051A>C (p.Asn1351His) c.4816A>C (p.Asn1606His) c.5005A>C (p.Asn1669His) c.4798A>C (p.Asn1600His) c.1501A>C (p.Asn501His) c.1546A>C (p.Asn516His) c.5002A>C (p.Asn1668His) c.1326A>C c.1513A>C (p.Asn505His) c.*4722A>C (n.*4722A>C) n.92A>C c.1252A>C (p.Asn418His) c.5-7024A>C (n.5-7024A>C) c.412A>C (p.Asn138His) c.-98-20785A>C (n.-98-20785A>C) n.5075A>C n.5116A>C | ClinVar dbSNP |
17 | g.43070975T= | CA2260772790 | BRCA1 | c.4936A= (p.Asn1646=) c.4939A= (p.Asn1647=) c.4813A= (p.Asn1605=) c.4933A= (p.Asn1645=) c.4861A= (p.Asn1621=) c.1627A= (p.Asn543=) c.1489A= (p.Asn497=) c.4051A= (p.Asn1351=) c.4816A= (p.Asn1606=) c.5005A= (p.Asn1669=) c.4798A= (p.Asn1600=) c.1501A= (p.Asn501=) c.1546A= (p.Asn516=) c.5002A= (p.Asn1668=) c.1326A= c.1513A= (p.Asn505=) c.*4722A= (n.*4722A=) n.92A= c.1252A= (p.Asn418=) c.5-7024A= (n.5-7024A=) c.412A= (p.Asn138=) c.-98-20785A= (n.-98-20785A=) n.5075A= n.5116A= | |
17 | g.43070976G>A | CA500231617 | BRCA1 | c.4935C>T (p.Val1645=) c.4938C>T (p.Val1646=) c.4812C>T (p.Val1604=) c.4932C>T (p.Val1644=) c.4860C>T (p.Val1620=) c.1626C>T (p.Val542=) c.1488C>T (p.Val496=) c.4050C>T (p.Val1350=) c.4815C>T (p.Val1605=) c.5004C>T (p.Val1668=) c.4797C>T (p.Val1599=) c.1500C>T (p.Val500=) c.1545C>T (p.Val515=) c.5001C>T (p.Val1667=) c.1325C>T c.1512C>T (p.Val504=) c.*4721C>T (n.*4721C>T) n.91C>T c.1251C>T (p.Val417=) c.5-7025C>T (n.5-7025C>T) c.411C>T (p.Val137=) c.-98-20786C>T (n.-98-20786C>T) n.5074C>T n.5115C>T | ClinVar dbSNP |
17 | g.43070976G>C | CA500231618 | BRCA1 | c.4935C>G (p.Val1645=) c.4938C>G (p.Val1646=) c.4812C>G (p.Val1604=) c.4932C>G (p.Val1644=) c.4860C>G (p.Val1620=) c.1626C>G (p.Val542=) c.1488C>G (p.Val496=) c.4050C>G (p.Val1350=) c.4815C>G (p.Val1605=) c.5004C>G (p.Val1668=) c.4797C>G (p.Val1599=) c.1500C>G (p.Val500=) c.1545C>G (p.Val515=) c.5001C>G (p.Val1667=) c.1325C>G c.1512C>G (p.Val504=) c.*4721C>G (n.*4721C>G) n.91C>G c.1251C>G (p.Val417=) c.5-7025C>G (n.5-7025C>G) c.411C>G (p.Val137=) c.-98-20786C>G (n.-98-20786C>G) n.5074C>G n.5115C>G | ClinVar dbSNP |
17 | g.43070976G= | CA2260772791 | BRCA1 | c.4935C= (p.Val1645=) c.4938C= (p.Val1646=) c.4812C= (p.Val1604=) c.4932C= (p.Val1644=) c.4860C= (p.Val1620=) c.1626C= (p.Val542=) c.1488C= (p.Val496=) c.4050C= (p.Val1350=) c.4815C= (p.Val1605=) c.5004C= (p.Val1668=) c.4797C= (p.Val1599=) c.1500C= (p.Val500=) c.1545C= (p.Val515=) c.5001C= (p.Val1667=) c.1325C= c.1512C= (p.Val504=) c.*4721C= (n.*4721C=) n.91C= c.1251C= (p.Val417=) c.5-7025C= (n.5-7025C=) c.411C= (p.Val137=) c.-98-20786C= (n.-98-20786C=) n.5074C= n.5115C= | |
17 | g.43070976G>T | CA500231619 | BRCA1 | c.4935C>A (p.Val1645=) c.4938C>A (p.Val1646=) c.4812C>A (p.Val1604=) c.4932C>A (p.Val1644=) c.4860C>A (p.Val1620=) c.1626C>A (p.Val542=) c.1488C>A (p.Val496=) c.4050C>A (p.Val1350=) c.4815C>A (p.Val1605=) c.5004C>A (p.Val1668=) c.4797C>A (p.Val1599=) c.1500C>A (p.Val500=) c.1545C>A (p.Val515=) c.5001C>A (p.Val1667=) c.1325C>A c.1512C>A (p.Val504=) c.*4721C>A (n.*4721C>A) n.91C>A c.1251C>A (p.Val417=) c.5-7025C>A (n.5-7025C>A) c.411C>A (p.Val137=) c.-98-20786C>A (n.-98-20786C>A) n.5074C>A n.5115C>A | ClinVar dbSNP |
17 | g.43070977A= | CA2260772792 | BRCA1 | c.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= | |
17 | g.43070977A>C | CA10591649 | BRCA1 | c.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 |
17 | g.43070977A>G | CA10591650 | BRCA1 | c.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 |
17 | g.43070977A>T | CA10591651 | BRCA1 | c.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 |
17 | g.43070977_43070978delinsAC | CA2260772793 | BRCA1 | c.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 | |
17 | g.43070978C>A | CA10591652 | BRCA1 | c.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 |
17 | g.43070978C= | CA2260772794 | BRCA1 | c.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= | |
17 | g.43070978C>G | CA10591653 | BRCA1 | c.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 |
17 | g.43070978C>T | CA10591654 | BRCA1 | c.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 |
17 | g.43070980dup | CA2695195948 | BRCA1 | c.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 | |
17 | g.43070980del | CA003086 | BRCA1 | c.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 |
17 | g.43070978_43070979insTT | CA658825002 | BRCA1 | c.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 |
17 | g.43070979C>A | CA10591655 | BRCA1 | c.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 |
17 | g.43070979C= | CA2260772795 | BRCA1 | c.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= | |
17 | g.43070979C>G | CA003089 | BRCA1 | c.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 |
17 | g.43070979C>T | CA500231627 | BRCA1 | c.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 |
17 | g.43070979_43070980insTTGTC | CA2733912913 | BRCA1 | c.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 |
17 | g.43070979_43070980insTT | CA645373140 | BRCA1 | c.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 |
17 | g.43070980C>A | CA003088 | BRCA1 | c.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 |
17 | g.43070980C= | CA2260772796 | BRCA1 | c.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= | |
17 | g.43070980C>G | CA003087 | BRCA1 | c.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 |
17 | g.43070980C>T | CA10591656 | BRCA1 | c.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 |
17 | g.43070981T>A | CA10591657 | BRCA1 | c.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 |
17 | g.43070981T>C | CA003084 | BRCA1 | c.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 |
17 | g.43070981T>G | CA500231628 | BRCA1 | c.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 |
17 | g.43070981T= | CA2260772797 | BRCA1 | c.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= | |
17 | g.43070982_43070983dup | CA003083 | BRCA1 | c.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 |
17 | g.43070983del | CA1139768351 | BRCA1 | c.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 |
17 | g.43070982T>A | CA10591658 | BRCA1 | c.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 |
17 | g.43070982T>C | CA500231630 | BRCA1 | c.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 |
17 | g.43070982T>G | CA10591659 | BRCA1 | c.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 |
17 | g.43070982T= | CA2260772799 | BRCA1 | c.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= | |
17 | g.43070982_43070984delinsTTC | CA2260772798 | BRCA1 | c.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 | |
17 | g.43070983T>A | CA10591660 | BRCA1 | c.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 |
17 | g.43070983T>C | CA003082 | BRCA1 | c.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 |
17 | g.43070983T>G | CA10591661 | BRCA1 | c.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 |
17 | g.43070983T= | CA2260772800 | BRCA1 | c.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= | |
17 | g.43070984_43070985del | CA919844185 | BRCA1 | c.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 |
17 | g.43070984C>A | CA003081 | BRCA1 | c.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 |
17 | g.43070984C= | CA2260772801 | BRCA1 | c.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= | |
17 | g.43070984C>G | CA10591662 | BRCA1 | c.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 |
17 | g.43070984C>T | CA10591663 | BRCA1 | c.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 |
17 | g.43070985del | CA2580094006 | BRCA1 | c.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 |
17 | g.43070985T>A | CA500231637 | BRCA1 | c.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 |
17 | g.43070985T>C | CA500231639 | BRCA1 | c.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 |
17 | g.43070985T>G | CA003080 | BRCA1 | c.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 |
17 | g.43070985T= | CA2260772802 | BRCA1 | c.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= | |
17 | g.43070986G>A | CA10591664 | BRCA1 | c.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 |
17 | g.43070986G>C | CA10591665 | BRCA1 | c.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 |
17 | g.43070986G= | CA2260772803 | BRCA1 | c.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= | |
17 | g.43070986G>T | CA10591666 | BRCA1 | c.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 |
17 | g.43070987T>A | CA10591667 | BRCA1 | c.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 |
17 | g.43070987T>C | CA10591668 | BRCA1 | c.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 |
17 | g.43070987T>G | CA10591669 | BRCA1 | c.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 |
17 | g.43070987T= | CA2260772804 | BRCA1 | c.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= | |
17 | g.43070988T>A | CA500231647 | BRCA1 | c.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 |
17 | g.43070988T>C | CA500231644 | BRCA1 | c.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 |
17 | g.43070988T>G | CA500231645 | BRCA1 | c.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 |
17 | g.43070988T= | CA2260772805 | BRCA1 | c.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= | |
17 | g.43070989G>A | CA10591670 | BRCA1 | c.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 |
17 | g.43070989G>C | CA10591671 | BRCA1 | c.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 |
17 | g.43070989G= | CA2260772806 | BRCA1 | c.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= | |
17 | g.43070989G>T | CA10591672 | BRCA1 | c.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 |
17 | g.43070990A= | CA2260772807 | BRCA1 | c.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= | |
17 | g.43070990A>C | CA10591673 | BRCA1 | c.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 |
17 | g.43070990A>G | CA10591674 | BRCA1 | c.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 |
17 | g.43070990A>T | CA10591675 | BRCA1 | c.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 |
17 | g.43070991A= | CA2260772808 | BRCA1 | c.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= | |
17 | g.43070991A>C | CA10580505 | BRCA1 | c.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 |
17 | g.43070991A>G | CA500231648 | BRCA1 | c.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 |
17 | g.43070991A>T | CA500231649 | BRCA1 | c.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 |
17 | g.43070992G>A | CA10591676 | BRCA1 | c.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 |
17 | g.43070992G>C | CA10591677 | BRCA1 | c.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 |
17 | g.43070992G= | CA2260772810 | BRCA1 | c.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= | |
17 | g.43070992G>T | CA10591678 | BRCA1 | c.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 |
17 | g.43070992_43070993delinsGC | CA2260772809 | BRCA1 | c.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 | |
17 | g.43070993del | CA10589636 | BRCA1 | c.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 |
17 | g.43070993C>A | CA10591679 | BRCA1 | c.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 |
17 | g.43070993C= | CA2260772811 | BRCA1 | c.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= | |
17 | g.43070993C>G | CA10591680 | BRCA1 | c.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 |
17 | g.43070993C>T | CA003079 | BRCA1 | c.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 |
17 | g.43070994T>A | CA500231660 | BRCA1 | c.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 |
17 | g.43070994T>C | CA500231661 | BRCA1 | c.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 |
17 | g.43070994T>G | CA500231662 | BRCA1 | c.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 |
17 | g.43070994T= | CA2260772813 | BRCA1 | c.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= | |
17 | g.43070994_43071013delinsTGTCAATTCTGGCTTCTCCC | CA2260772812 | BRCA1 | c.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 | |
17 | g.43070995G>A | CA10591681 | BRCA1 | c.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 |
17 | g.43070995G>C | CA10591682 | BRCA1 | c.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 |
17 | g.43070995G= | CA2260772814 | BRCA1 | c.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= | |
17 | g.43070995G>T | CA10591683 | BRCA1 | c.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 |
17 | g.43070995_43071013del | CA645373141 | BRCA1 | c.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 |
17 | g.43070995_43070996insGTCAATTCTGGCTTCTCCC | CA919844186 | BRCA1 | c.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 |
17 | g.43070996T>A | CA10591684 | BRCA1 | c.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 |
17 | g.43070996T>C | CA10591685 | BRCA1 | c.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 |
17 | g.43070996T>G | CA10591686 | BRCA1 | c.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 |
17 | g.43070996T= | CA2260772815 | BRCA1 | c.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= | |
17 | g.43070997C>A | CA10591687 | BRCA1 | c.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 |
17 | g.43070997C= | CA2260772816 | BRCA1 | c.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= | |
17 | g.43070997C>G | CA10591688 | BRCA1 | c.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 |
17 | g.43070997C>T | CA16615754 | BRCA1 | c.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 |
17 | g.43070998A= | CA2260772817 | BRCA1 | c.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= | |
17 | g.43070998A>C | CA10591689 | BRCA1 | c.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 |
17 | g.43070998A>G | CA10591690 | BRCA1 | c.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 |
17 | g.43070998A>T | CA10591691 | BRCA1 | c.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 |
17 | g.43070999A= | CA2260772818 | BRCA1 | c.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= | |
17 | g.43070999A>C | CA10591692 | BRCA1 | c.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 |
17 | g.43070999A>G | CA500231674 | BRCA1 | c.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 |
17 | g.43070999A>T | CA10591693 | BRCA1 | c.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 |
17 | g.43071000T>A | CA10591694 | BRCA1 | c.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 |
17 | g.43071000T>C | CA003078 | BRCA1 | c.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 |
17 | g.43071000T>G | CA10591695 | BRCA1 | c.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 |
17 | g.43071000T= | CA2260772819 | BRCA1 | c.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= | |
17 | g.43071001T>A | CA10591696 | BRCA1 | c.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 |
17 | g.43071001T>C | CA10591697 | BRCA1 | c.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 |
17 | g.43071001T>G | CA10591698 | BRCA1 | c.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 |
17 | g.43071001T= | CA2260772820 | BRCA1 | c.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= | |
17 | g.43071002C>A | CA10591699 | BRCA1 | c.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 |
17 | g.43071002C= | CA2260772821 | BRCA1 | c.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= | |
17 | g.43071002C>G | CA10591700 | BRCA1 | c.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 |
17 | g.43071002C>T | CA10591701 | BRCA1 | c.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 |
17 | g.43071003T>A | CA500231677 | BRCA1 | c.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 |
17 | g.43071003T>C | CA500231678 | BRCA1 | c.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 |
17 | g.43071003T>G | CA500231679 | BRCA1 | c.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 |
17 | g.43071003T= | CA2260772823 | BRCA1 | c.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= | |
17 | g.43071003_43071004delinsTG | CA2260772822 | BRCA1 | c.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 | |
17 | g.43071004G>A | CA003076 | BRCA1 | c.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 |
17 | g.43071004G>C | CA10591702 | BRCA1 | c.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 |
17 | g.43071004G= | CA2260772824 | BRCA1 | c.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= | |
17 | g.43071004G>T | CA10591703 | BRCA1 | c.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 |
17 | g.43071005del | CA003077 | BRCA1 | c.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 |
17 | g.43071005G>A | CA10580506 | BRCA1 | c.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 |
17 | g.43071005G>C | CA10591704 | BRCA1 | c.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 |
17 | g.43071005G= | CA2260772825 | BRCA1 | c.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= | |
17 | g.43071005G>T | CA10591705 | BRCA1 | c.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 |
17 | g.43071006C>A | CA10591706 | BRCA1 | c.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 |
17 | g.43071006C= | CA2260772826 | BRCA1 | c.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= | |
17 | g.43071006C>G | CA10591707 | BRCA1 | c.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 |
17 | g.43071006C>T | CA500231688 | BRCA1 | c.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 |
17 | g.43071007T>A | CA10591708 | BRCA1 | c.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 |
17 | g.43071007T>C | CA10591709 | BRCA1 | c.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 |
17 | g.43071007T>G | CA10591710 | BRCA1 | c.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 |
17 | g.43071007T= | CA2260772828 | BRCA1 | c.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= | |
17 | g.43071008del | CA2733912920 | BRCA1 | c.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 |
17 | g.43071007_43071009delinsTTC | CA2260772827 | BRCA1 | c.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 | |
17 | g.43071008T>A | CA10591711 | BRCA1 | c.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 |
17 | g.43071008T>C | CA10591712 | BRCA1 | c.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 |
17 | g.43071008T>G | CA10591713 | BRCA1 | c.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 |
17 | g.43071008T= | CA2260772829 | BRCA1 | c.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= | |
17 | g.43071010_43071011del | CA003074 | BRCA1 | c.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 |
17 | g.43071009C>A | CA10591714 | BRCA1 | c.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 |
17 | g.43071009C= | CA2260772830 | BRCA1 | c.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= | |
17 | g.43071009C>G | CA10591715 | BRCA1 | c.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 |
17 | g.43071009C>T | CA500231696 | BRCA1 | c.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 |
17 | g.43071010T>A | CA10591716 | BRCA1 | c.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 |
17 | g.43071010T>C | CA10591717 | BRCA1 | c.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 |
17 | g.43071010T>G | CA10591718 | BRCA1 | c.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 |
17 | g.43071010T= | CA2260772832 | BRCA1 | c.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= | |
17 | g.43071010_43071011delinsTC | CA2260772831 | BRCA1 | c.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 | |
17 | g.43071011C>A | CA003073 | BRCA1 | c.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 |
17 | g.43071011C= | CA2260772833 | BRCA1 | c.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= | |
17 | g.43071011C>G | CA10591719 | BRCA1 | c.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 |
17 | g.43071011C>T | CA003072 | BRCA1 | c.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 |
17 | g.43071013dup | CA915950106 | BRCA1 | c.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 |
17 | g.43071013del | CA645373142 | BRCA1 | c.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 |
17 | g.43071012C>A | CA053433 | BRCA1 | c.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 |
17 | g.43071012C= | CA2260772834 | BRCA1 | c.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= | |
17 | g.43071012C>G | CA10591720 | BRCA1 | c.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 |
17 | g.43071012C>T | CA339038 | BRCA1 | c.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 |
17 | g.43071013C>A | CA10591721 | BRCA1 | c.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 |
17 | g.43071013C= | CA2260772835 | BRCA1 | c.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= | |
17 | g.43071013C>G | CA10591722 | BRCA1 | c.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 |
17 | g.43071013C>T | CA10591723 | BRCA1 | c.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 |
17 | g.43071014T>A | CA10591724 | BRCA1 | c.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 |
17 | g.43071014T>C | CA10591725 | BRCA1 | c.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 |
17 | g.43071014T>G | CA500231709 | BRCA1 | c.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 |
17 | g.43071014T= | CA2260772836 | BRCA1 | c.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= | |
17 | g.43071015G>A | CA500231712 | BRCA1 | c.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 |
17 | g.43071015G>C | CA10591726 | BRCA1 | c.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 |
17 | g.43071015G= | CA2260772837 | BRCA1 | c.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= | |
17 | g.43071015G>T | CA10591727 | BRCA1 | c.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 |
17 | g.43071015dup | CA2695225904 | BRCA1 | c.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 | |
17 | g.43071016C>A | CA10591728 | BRCA1 | c.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 |
17 | g.43071016C= | CA2260772838 | BRCA1 | c.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= | |
17 | g.43071016C>G | CA10591729 | BRCA1 | c.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 |
17 | g.43071016C>T | CA10591730 | BRCA1 | c.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 |
17 | g.43071017T>A | CA10591731 | BRCA1 | c.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 |
17 | g.43071017T>C | CA10591732 | BRCA1 | c.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 |
17 | g.43071017T>G | CA10591733 | BRCA1 | c.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 |
17 | g.43071017T= | CA2260772840 | BRCA1 | c.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= | |
17 | g.43071017_43071019delinsTCA | CA2260772839 | BRCA1 | c.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 | |
17 | g.43071018del | CA2695225905 | BRCA1 | c.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 | |
17 | g.43071018C>A | CA500231715 | BRCA1 | c.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 |
17 | g.43071018C= | CA2260772841 | BRCA1 | c.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= | |
17 | g.43071018C>G | CA500231718 | BRCA1 | c.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 |
17 | g.43071018C>T | CA500231720 | BRCA1 | c.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 |
17 | g.43071021_43071022del | CA10586606 | BRCA1 | c.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 |
17 | g.43071019A= | CA2260772842 | BRCA1 | c.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= | |
17 | g.43071019A>C | CA10591734 | BRCA1 | c.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 |
17 | g.43071019A>G | CA10591735 | BRCA1 | c.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 |
17 | g.43071019A>T | CA10591736 | BRCA1 | c.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 |
17 | g.43071020C>A | CA003070 | BRCA1 | c.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 |
17 | g.43071020C= | CA2260772843 | BRCA1 | c.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= | |
17 | g.43071020C>G | CA10591737 | BRCA1 | c.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 |
17 | g.43071020C>T | CA053429 | BRCA1 | c.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 |
17 | g.43071020_43071027delinsCACTTTCT | CA2260772844 | BRCA1 | c.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 | |
17 | g.43071021A= | CA2260772845 | BRCA1 | c.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= | |
17 | g.43071021A>C | CA10591738 | BRCA1 | c.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 |
17 | g.43071021A>G | CA003068 | BRCA1 | c.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 |
17 | g.43071021A>T | CA10591739 | BRCA1 | c.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 |
17 | g.43071021_43071027del | CA10589637 | BRCA1 | c.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 |
17 | g.43071022C>A | CA10591740 | BRCA1 | c.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 |
17 | g.43071022C= | CA2260772846 | BRCA1 | c.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= | |
17 | g.43071022C>G | CA10591741 | BRCA1 | c.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 |
17 | g.43071022C>T | CA003067 | BRCA1 | c.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 |
17 | g.43071022_43071023delinsCT | CA2260772847 | BRCA1 | c.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 | |
17 | g.43071023T>A | CA003066 | BRCA1 | c.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 |
17 | g.43071023T>C | CA10591742 | BRCA1 | c.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 |
17 | g.43071023T>G | CA10591743 | BRCA1 | c.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 |
17 | g.43071023T= | CA2260772848 | BRCA1 | c.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= | |
17 | g.43071025dup | CA003065 | BRCA1 | c.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 |
17 | g.43071025del | CA10589638 | BRCA1 | c.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 |
17 | g.43071024T>A | CA10591744 | BRCA1 | c.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 |
17 | g.43071024T>C | CA500231736 | BRCA1 | c.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 |
17 | g.43071024T>G | CA10591745 | BRCA1 | c.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 | |
17 | g.43071024_43071026delinsTTC | CA2260772849 | BRCA1 | c.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 | |
17 | g.43071026_43071033del | CA2582342171 | BRCA1 | c.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 |
17 | g.43071025T>A | CA10591746 | BRCA1 | c.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 | |
17 | g.43071025T>C | CA10591747 | BRCA1 | c.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 |
17 | g.43071025T>G | CA10591748 | BRCA1 | c.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 | |
17 | g.43071026_43071027del | CA10586110 | BRCA1 | c.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 |
17 | g.43071026C>A | CA10591749 | BRCA1 | c.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 |
17 | g.43071026C= | CA2260772851 | BRCA1 | c.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= | |
17 | g.43071026C>G | CA10591750 | BRCA1 | c.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 |
17 | g.43071026C>T | CA10591751 | BRCA1 | c.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 |
17 | g.43071026_43071027delinsCT | CA2260772850 | BRCA1 | c.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 | |
17 | g.43071026_43071027insG | CA919844193 | BRCA1 | c.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 |
17 | g.43071027T>A | CA10591752 | BRCA1 | c.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 |
17 | g.43071027T>C | CA500231742 | BRCA1 | c.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 | |
17 | g.43071027T>G | CA10591753 | BRCA1 | c.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 | |
17 | g.43071027_43071028delinsG | CA2499224390 | BRCA1 | c.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 | |
17 | g.43071028del | CA919844194 | BRCA1 | c.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 |
17 | g.43071028T>A | CA10591754 | BRCA1 | c.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 |
17 | g.43071028T>C | CA10591755 | BRCA1 | c.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 |
17 | g.43071028T>G | CA10591756 | BRCA1 | c.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 | |
17 | g.43071028_43071029delinsTC | CA2260772852 | BRCA1 | c.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 | |
17 | g.43071028_43071041delinsTCCATTGCATTATA | CA2260772853 | BRCA1 | c.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 | |
17 | g.43071029C>A | CA10591757 | BRCA1 | c.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 |
17 | g.43071029C>G | CA10591758 | BRCA1 | c.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 |
17 | g.43071029C>T | CA10591759 | BRCA1 | c.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 |
17 | g.43071030dup | CA10589639 | BRCA1 | c.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 |
17 | g.43071030del | CA658825003 | BRCA1 | c.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 |
17 | g.43071031_43071043del | CA003059 | BRCA1 | c.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 |
17 | g.43071030C>A | CA003063 | BRCA1 | c.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 |
17 | g.43071030C= | CA2260772854 | BRCA1 | c.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= | |
17 | g.43071030C>G | CA10591760 | BRCA1 | c.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 |
17 | g.43071030C>T | CA10591761 | BRCA1 | c.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 |
17 | g.43071031del | CA2697559920 | BRCA1 | c.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 |
17 | g.43071031A= | CA2260772855 | BRCA1 | c.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= | |
17 | g.43071031A>C | CA10591762 | BRCA1 | c.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 |
17 | g.43071031A>G | CA003062 | BRCA1 | c.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 |
17 | g.43071031A>T | CA10591763 | BRCA1 | c.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 |
17 | g.43071032T>A | CA10591764 | BRCA1 | c.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 |
17 | g.43071032T>C | CA003061 | BRCA1 | c.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 |
17 | g.43071032T>G | CA10591765 | BRCA1 | c.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 |
17 | g.43071032T= | CA2260772856 | BRCA1 | c.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= | |
17 | g.43071033T>A | CA500231753 | BRCA1 | c.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 |
17 | g.43071033T>C | CA500231751 | BRCA1 | c.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 |
17 | g.43071033T>G | CA500231752 | BRCA1 | c.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 | |
17 | g.43071033T= | CA2260772857 | BRCA1 | c.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= | |
17 | g.43071034G>A | CA053410 | BRCA1 | c.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 |
17 | g.43071034G>C | CA10591766 | BRCA1 | c.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 | ClinVar dbSNP |
17 | g.43071034G= | CA2260772858 | BRCA1 | c.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= | |
17 | g.43071034G>T | CA10591767 | BRCA1 | c.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 |
17 | g.43071034_43071041del | CA2499224391 | BRCA1 | c.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 | |
17 | g.43071035C>A | CA10591768 | BRCA1 | c.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 |
17 | g.43071035C= | CA2260772859 | BRCA1 | c.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= | |
17 | g.43071035C>G | CA10591769 | BRCA1 | c.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 |
17 | g.43071035C>T | CA053401 | BRCA1 | c.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 |
17 | g.43071036del | CA2573154030 | BRCA1 | c.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 |
17 | g.43071036A= | CA2260772861 | BRCA1 | c.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= | |
17 | g.43071036A>C | CA10591770 | BRCA1 | c.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 | |
17 | g.43071036A>G | CA500231756 | BRCA1 | c.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 |
17 | g.43071036A>T | CA10591771 | BRCA1 | c.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 | |
17 | g.43071036dup | CA10589640 | BRCA1 | c.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 |
17 | g.43071036_43071037delinsAT | CA2260772860 | BRCA1 | c.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 | |
17 | g.43071037T>A | CA10591772 | BRCA1 | c.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 |
17 | g.43071037T>C | CA10591773 | BRCA1 | c.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 |
17 | g.43071037T>G | CA10591774 | BRCA1 | c.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 | |
17 | g.43071038del | CA10589641 | BRCA1 | c.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 |