Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.43057133_43063930del | CA916079884 | BRCA1 | c.5094_5194del c.5097_5197del c.4971_5071del c.5091_5191del c.5019_5119del c.1785_1885del c.1647_1747del c.4209_4309del c.4974_5074del c.5163_5263del c.4956_5056del c.1659_1759del c.5160_5260del c.1484_1584del c.1671_1771del c.*4880_*4980del c.27_127del c.570_670del c.-98-13739_-98-6942del (n.-98-13739_-98-6942del) n.5233_5333del n.5274_5374del | |
17 | g.43057133_43063931del | CA923726270 | BRCA1 | c.5092_5193del c.5095_5196del c.4969_5070del c.5089_5190del c.5017_5118del c.1783_1884del c.1645_1746del c.4207_4308del c.4972_5073del c.5161_5262del c.4954_5055del c.1657_1758del c.5158_5259del c.1482_1583del c.1669_1770del c.*4878_*4979del c.25_126del c.568_669del c.-98-13741_-98-6943del (n.-98-13741_-98-6943del) n.5231_5332del n.5272_5373del | |
17 | g.43059235_43065439dup | CA2697559969 | BRCA1 | c.5072-1461_5191-2073dup c.5075-1461_5194-2073dup c.4949-1461_5068-2073dup c.5069-1461_5188-2073dup c.4997-1461_5116-2073dup c.1763-1461_1882-2073dup c.1625-1461_1744-2073dup c.4187-1461_4306-2073dup c.4952-1461_5071-2073dup c.5141-1461_5260-2073dup c.4934-1461_5053-2073dup c.1637-1461_1756-2073dup c.5138-1461_5257-2073dup c.1462-1461_1581-2073dup c.1649-1461_1768-2073dup c.*4858-1461_*4977-2073dup c.5-1461_124-2073dup c.548-1461_667-2073dup c.-98-15222_-98-9018dup (n.-98-15222_-98-9018dup) n.5211-1461_5330-2073dup n.5252-1461_5371-2073dup | |
17 | g.43060764_43066736dup | CA2580612613 | BRCA1 | c.5071+872_5190+2569dup c.5074+872_5193+2569dup c.4948+872_5067+2569dup c.5068+872_5187+2569dup c.4996+872_5115+2569dup c.1762+872_1881+2569dup c.1624+872_1743+2569dup c.4186+872_4305+2569dup c.4951+872_5070+2569dup c.5140+872_5259+2569dup c.4933+872_5052+2569dup c.1636+872_1755+2569dup c.5137+872_5256+2569dup c.1461+872_1580+2569dup c.1648+872_1767+2569dup c.*4857+872_*4976+2569dup c.5-2785_123+2569dup c.547+872_666+2569dup c.-98-16546_-98-10574dup (n.-98-16546_-98-10574dup) n.5210+872_5329+2569dup n.5251+872_5370+2569dup | |
17 | g.43061818_43066643del | CA16043347 | BRCA1 | c.5071+991_5190+1541del c.5074+991_5193+1541del c.4948+991_5067+1541del c.5068+991_5187+1541del c.4996+991_5115+1541del c.1762+991_1881+1541del c.1624+991_1743+1541del c.4186+991_4305+1541del c.4951+991_5070+1541del c.5140+991_5259+1541del c.4933+991_5052+1541del c.1636+991_1755+1541del c.5137+991_5256+1541del c.1461+991_1580+1541del c.1648+991_1767+1541del c.*4857+991_*4976+1541del c.5-2666_123+1541del c.547+991_666+1541del c.-98-16427_-98-11602del (n.-98-16427_-98-11602del) n.5210+991_5329+1541del n.5251+991_5370+1541del | ClinVar |
17 | g.43063332_43064342del | CA2499224373 | BRCA1 | c.5072-390_5190+2del c.5075-390_5193+2del c.4949-390_5067+2del c.5069-390_5187+2del c.4997-390_5115+2del c.1763-390_1881+2del c.1625-390_1743+2del c.4187-390_4305+2del c.4952-390_5070+2del c.5141-390_5259+2del c.4934-390_5052+2del c.1637-390_1755+2del c.5138-390_5256+2del c.1462-390_1580+2del c.1649-390_1767+2del c.*4858-390_*4976+2del c.5-390_123+2del c.548-390_666+2del c.-98-14151_-98-13141del (n.-98-14151_-98-13141del) n.5211-390_5329+2del n.5252-390_5370+2del | ClinVar |
17 | g.43063334_43063930del | CA916084420 | BRCA1 | c.5095_5190+1del c.5098_5193+1del c.4972_5067+1del c.5092_5187+1del c.5020_5115+1del c.1786_1881+1del c.1648_1743+1del c.4210_4305+1del c.4975_5070+1del c.5164_5259+1del c.4957_5052+1del c.1660_1755+1del c.5161_5256+1del c.1485_1580+1del c.1672_1767+1del c.*4881_*4976+1del c.28_123+1del c.571_666+1del c.-98-13738_-98-13142del (n.-98-13738_-98-13142del) n.5234_5329+1del n.5275_5370+1del | |
17 | g.43063333_43063930del | CA916084421 | BRCA1 | c.5094_5190+1del c.5097_5193+1del c.4971_5067+1del c.5091_5187+1del c.5019_5115+1del c.1785_1881+1del c.1647_1743+1del c.4209_4305+1del c.4974_5070+1del c.5163_5259+1del c.4956_5052+1del c.1659_1755+1del c.5160_5256+1del c.1484_1580+1del c.1671_1767+1del c.*4880_*4976+1del c.27_123+1del c.570_666+1del c.-98-13739_-98-13142del (n.-98-13739_-98-13142del) n.5233_5329+1del n.5274_5370+1del | |
17 | g.43063335_43063953del | CA658655490 | BRCA1 | c.5072_5190del c.5075_5193del c.4949_5067del c.5069_5187del c.4997_5115del c.1763_1881del c.1625_1743del c.4187_4305del c.4952_5070del c.5141_5259del c.4934_5052del c.1637_1755del c.5138_5256del c.1462_1580del c.1649_1767del c.*4858_*4976del c.5_123del c.548_666del c.-98-13761_-98-13143del (n.-98-13761_-98-13143del) n.5211_5329del n.5252_5370del | |
17 | g.43063336_43063930del | CA913203496 | BRCA1 | c.5094_5188del c.5097_5191del c.4971_5065del c.5091_5185del c.5019_5113del c.1785_1879del c.1647_1741del c.4209_4303del c.4974_5068del c.5163_5257del c.4956_5050del c.1659_1753del c.5160_5254del c.1484_1578del c.1671_1765del c.*4880_*4974del c.27_121del c.570_664del c.-98-13739_-98-13145del (n.-98-13739_-98-13145del) n.5233_5327del n.5274_5368del | |
17 | g.43063357_43067682dup | CA1139532339 | BRCA1 | c.4998_5167dup c.5001_5170dup c.4875_5044dup c.4995_5164dup c.4923_5092dup c.1689_1858dup c.1551_1720dup c.4113_4282dup c.4878_5047dup c.5067_5236dup c.4860_5029dup c.1563_1732dup c.5064_5233dup c.1388_1557dup c.1575_1744dup c.*4784_*4953dup c.1314_1483dup c.5-3730_100dup c.474_643dup c.-98-17491_-98-13166dup (n.-98-17491_-98-13166dup) n.5137_5306dup n.5178_5347dup | |
17 | g.43063360_43063930del | CA916084423 | BRCA1 | c.5093_5163del c.5096_5166del c.4970_5040del c.5090_5160del c.5018_5088del c.1784_1854del c.1646_1716del c.4208_4278del c.4973_5043del c.5162_5232del c.4955_5025del c.1658_1728del c.5159_5229del c.1483_1553del c.1670_1740del c.*4879_*4949del c.1409_1479del c.26_96del c.569_639del c.-98-13740_-98-13170del (n.-98-13740_-98-13170del) n.5232_5302del n.5273_5343del | |
17 | g.43063366_43063931del | CA913203495 | BRCA1 | c.5093_5158del c.5096_5161del c.4970_5035del c.5090_5155del c.5018_5083del c.1784_1849del c.1646_1711del c.4208_4273del c.4973_5038del c.5162_5227del c.4955_5020del c.1658_1723del c.5159_5224del c.1483_1548del c.1670_1735del c.*4879_*4944del c.1409_1474del c.26_91del c.569_634del c.-98-13740_-98-13175del (n.-98-13740_-98-13175del) n.5232_5297del n.5273_5338del | |
17 | g.43063863_43063926dup | CA2697559912 | BRCA1 | c.5100_5149+14dup c.5103_5152+14dup c.4977_5026+14dup c.5097_5146+14dup c.5025_5074+14dup c.1791_1840+14dup c.1653_1702+14dup c.4215_4264+14dup c.4980_5029+14dup c.5169_5218+14dup c.4962_5011+14dup c.1665_1714+14dup c.5166_5215+14dup c.1490_1539+14dup c.1677_1726+14dup c.*4886_*4935+14dup c.1416_1465+14dup c.33_82+14dup c.576_625+14dup c.-98-13733_-98-13670dup (n.-98-13733_-98-13670dup) n.5239_5288+14dup n.5280_5329+14dup | ClinVar |
17 | g.43063872_43069026del | CA2499224378 | BRCA1 | c.4984-1331_5149+2del c.4987-1331_5152+2del c.4861-1331_5026+2del c.4981-1331_5146+2del c.4909-1331_5074+2del c.1675-1331_1840+2del c.1537-1331_1702+2del c.4099-1331_4264+2del c.4864-1331_5029+2del c.5053-1331_5218+2del c.4846-1331_5011+2del c.1549-1331_1714+2del c.5050-1331_5215+2del c.1374-1331_1539+2del c.1561-1331_1726+2del c.*4770-1331_*4935+2del c.1300-1331_1465+2del c.5-5075_82+2del c.460-1331_625+2del c.-98-18836_-98-13682del (n.-98-18836_-98-13682del) n.5123-1331_5288+2del n.5164-1331_5329+2del | ClinVar |
17 | g.43063873_43063951delinsCAGAAATAGCTAACTACCCATTTTCCTCCCGCAATTCCTAGAAAATATTTCAGTGTCCGTTCACACACAAACTCAGCAT | CA2260769484 | BRCA1 | c.5072_5149+1delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG c.5075_5152+1delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG c.4949_5026+1delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG c.5069_5146+1delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG c.4997_5074+1delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG c.1763_1840+1delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG c.1625_1702+1delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG c.4187_4264+1delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG c.4952_5029+1delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG c.5141_5218+1delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG c.4934_5011+1delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG c.1637_1714+1delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG c.5138_5215+1delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG c.1462_1539+1delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG c.1649_1726+1delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG c.*4858_*4935+1delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG c.1388_1465+1delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG c.5_82+1delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG c.548_625+1delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG c.-98-13761_-98-13683delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG (n.-98-13761_-98-13683delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG) n.5211_5288+1delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG n.5252_5329+1delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG | |
17 | g.43063874_43063951del | CA645373156 | BRCA1 | c.5072_5149del (p.Asp1691_Trp1717delinsGly) c.5075_5152del (p.Asp1692_Trp1718delinsGly) c.4949_5026del (p.Asp1650_Trp1676delinsGly) c.5069_5146del (p.Asp1690_Trp1716delinsGly) c.4997_5074del (p.Asp1666_Trp1692delinsGly) c.1763_1840del (p.Asp588_Trp614delinsGly) c.1625_1702del (p.Asp542_Trp568delinsGly) c.4187_4264del (p.Asp1396_Trp1422delinsGly) c.4952_5029del (p.Asp1651_Trp1677delinsGly) c.5141_5218del (p.Asp1714_Trp1740delinsGly) c.4934_5011del (p.Asp1645_Trp1671delinsGly) c.1637_1714del (p.Asp546_Trp572delinsGly) c.5138_5215del (p.Asp1713_Trp1739delinsGly) c.1462_1539del c.1649_1726del (p.Asp550_Trp576delinsGly) c.*4858_*4935del (n.*4858_*4935del) c.1388_1465del (p.Asp463_Trp489delinsGly) c.5_82del (p.Asp2_Trp28delinsGly) c.548_625del (p.Asp183_Trp209delinsGly) c.-98-13761_-98-13684del (n.-98-13761_-98-13684del) n.5211_5288del n.5252_5329del | ClinVar dbSNP |
17 | g.43063890_43063898del | CA2573054438 | BRCA1 | c.5126_5134del (p.Gly1709_Trp1711del) c.5129_5137del (p.Gly1710_Trp1712del) c.5003_5011del (p.Gly1668_Trp1670del) c.5123_5131del (p.Gly1708_Trp1710del) c.5051_5059del (p.Gly1684_Trp1686del) c.1817_1825del (p.Gly606_Trp608del) c.1679_1687del (p.Gly560_Trp562del) c.4241_4249del (p.Gly1414_Trp1416del) c.5006_5014del (p.Gly1669_Trp1671del) c.5195_5203del (p.Gly1732_Trp1734del) c.4988_4996del (p.Gly1663_Trp1665del) c.1691_1699del (p.Gly564_Trp566del) c.5192_5200del (p.Gly1731_Trp1733del) c.1516_1524del c.1703_1711del (p.Gly568_Trp570del) c.*4912_*4920del (n.*4912_*4920del) c.1442_1450del (p.Gly481_Trp483del) c.59_67del (p.Gly20_Trp22del) c.602_610del (p.Gly201_Trp203del) c.-98-13707_-98-13699del (n.-98-13707_-98-13699del) n.5265_5273del n.5306_5314del | ClinVar dbSNP |
17 | g.43063892_43063902del | CA2580093949 | BRCA1 | c.5124_5134del (p.Gly1709SerfsTer2) c.5127_5137del (p.Gly1710SerfsTer2) c.5001_5011del (p.Gly1668SerfsTer2) c.5121_5131del (p.Gly1708SerfsTer2) c.5049_5059del (p.Gly1684SerfsTer2) c.1815_1825del (p.Gly606SerfsTer2) c.1677_1687del (p.Gly560SerfsTer2) c.4239_4249del (p.Gly1414SerfsTer2) c.5004_5014del (p.Gly1669SerfsTer2) c.5193_5203del (p.Gly1732SerfsTer2) c.4986_4996del (p.Gly1663SerfsTer2) c.1689_1699del (p.Gly564SerfsTer2) c.5190_5200del (p.Gly1731SerfsTer2) c.1514_1524del c.1701_1711del (p.Gly568SerfsTer2) c.*4910_*4920del (n.*4910_*4920del) c.1440_1450del (p.Gly481SerfsTer2) c.57_67del (p.Gly20SerfsTer2) c.600_610del (p.Gly201SerfsTer2) c.-98-13709_-98-13699del (n.-98-13709_-98-13699del) n.5263_5273del n.5304_5314del | ClinVar |
17 | g.43063896_43063897delinsTC | CA2260769514 | BRCA1 | c.5126_5127delinsGA (p.Gly1709=) c.5129_5130delinsGA (p.Gly1710=) c.5003_5004delinsGA (p.Gly1668=) c.5123_5124delinsGA (p.Gly1708=) c.5051_5052delinsGA (p.Gly1684=) c.1817_1818delinsGA (p.Gly606=) c.1679_1680delinsGA (p.Gly560=) c.4241_4242delinsGA (p.Gly1414=) c.5006_5007delinsGA (p.Gly1669=) c.5195_5196delinsGA (p.Gly1732=) c.4988_4989delinsGA (p.Gly1663=) c.1691_1692delinsGA (p.Gly564=) c.5192_5193delinsGA (p.Gly1731=) c.1516_1517delinsGA c.1703_1704delinsGA (p.Gly568=) c.*4912_*4913delinsGA (n.*4912_*4913delinsGA) c.1442_1443delinsGA (p.Gly481=) c.59_60delinsGA (p.Gly20=) c.602_603delinsGA (p.Gly201=) c.-98-13707_-98-13706delinsGA (n.-98-13707_-98-13706delinsGA) n.5265_5266delinsGA n.5306_5307delinsGA | |
17 | g.43063899_43063901del | CA2695226123 | BRCA1 | c.5125_5127del (p.Gly1709del) c.5128_5130del (p.Gly1710del) c.5002_5004del (p.Gly1668del) c.5122_5124del (p.Gly1708del) c.5050_5052del (p.Gly1684del) c.1816_1818del (p.Gly606del) c.1678_1680del (p.Gly560del) c.4240_4242del (p.Gly1414del) c.5005_5007del (p.Gly1669del) c.5194_5196del (p.Gly1732del) c.4987_4989del (p.Gly1663del) c.1690_1692del (p.Gly564del) c.5191_5193del (p.Gly1731del) c.1515_1517del c.1702_1704del (p.Gly568del) c.*4911_*4913del (n.*4911_*4913del) c.1441_1443del (p.Gly481del) c.58_60del (p.Gly20del) c.601_603del (p.Gly201del) c.-98-13708_-98-13706del (n.-98-13708_-98-13706del) n.5264_5266del n.5305_5307del | |
17 | g.43063897C>A | CA10591283 | BRCA1 | c.5126G>T (p.Gly1709Val) c.5129G>T (p.Gly1710Val) c.5003G>T (p.Gly1668Val) c.5123G>T (p.Gly1708Val) c.5051G>T (p.Gly1684Val) c.1817G>T (p.Gly606Val) c.1679G>T (p.Gly560Val) c.4241G>T (p.Gly1414Val) c.5006G>T (p.Gly1669Val) c.5195G>T (p.Gly1732Val) c.4988G>T (p.Gly1663Val) c.1691G>T (p.Gly564Val) c.5192G>T (p.Gly1731Val) c.1516G>T c.1703G>T (p.Gly568Val) c.*4912G>T (n.*4912G>T) c.1442G>T (p.Gly481Val) c.59G>T (p.Gly20Val) c.602G>T (p.Gly201Val) c.-98-13707G>T (n.-98-13707G>T) n.5265G>T n.5306G>T | ClinVar dbSNP |
17 | g.43063897C= | CA2260769516 | BRCA1 | c.5126G= (p.Gly1709=) c.5129G= (p.Gly1710=) c.5003G= (p.Gly1668=) c.5123G= (p.Gly1708=) c.5051G= (p.Gly1684=) c.1817G= (p.Gly606=) c.1679G= (p.Gly560=) c.4241G= (p.Gly1414=) c.5006G= (p.Gly1669=) c.5195G= (p.Gly1732=) c.4988G= (p.Gly1663=) c.1691G= (p.Gly564=) c.5192G= (p.Gly1731=) c.1516G= c.1703G= (p.Gly568=) c.*4912G= (n.*4912G=) c.1442G= (p.Gly481=) c.59G= (p.Gly20=) c.602G= (p.Gly201=) c.-98-13707G= (n.-98-13707G=) n.5265G= n.5306G= | |
17 | g.43063897C>G | CA10591284 | BRCA1 | c.5126G>C (p.Gly1709Ala) c.5129G>C (p.Gly1710Ala) c.5003G>C (p.Gly1668Ala) c.5123G>C (p.Gly1708Ala) c.5051G>C (p.Gly1684Ala) c.1817G>C (p.Gly606Ala) c.1679G>C (p.Gly560Ala) c.4241G>C (p.Gly1414Ala) c.5006G>C (p.Gly1669Ala) c.5195G>C (p.Gly1732Ala) c.4988G>C (p.Gly1663Ala) c.1691G>C (p.Gly564Ala) c.5192G>C (p.Gly1731Ala) c.1516G>C c.1703G>C (p.Gly568Ala) c.*4912G>C (n.*4912G>C) c.1442G>C (p.Gly481Ala) c.59G>C (p.Gly20Ala) c.602G>C (p.Gly201Ala) c.-98-13707G>C (n.-98-13707G>C) n.5265G>C n.5306G>C | ClinVar dbSNP |
17 | g.43063897C>T | CA003258 | BRCA1 | c.5126G>A (p.Gly1709Glu) c.5129G>A (p.Gly1710Glu) c.5003G>A (p.Gly1668Glu) c.5123G>A (p.Gly1708Glu) c.5051G>A (p.Gly1684Glu) c.1817G>A (p.Gly606Glu) c.1679G>A (p.Gly560Glu) c.4241G>A (p.Gly1414Glu) c.5006G>A (p.Gly1669Glu) c.5195G>A (p.Gly1732Glu) c.4988G>A (p.Gly1663Glu) c.1691G>A (p.Gly564Glu) c.5192G>A (p.Gly1731Glu) c.1516G>A c.1703G>A (p.Gly568Glu) c.*4912G>A (n.*4912G>A) c.1442G>A (p.Gly481Glu) c.59G>A (p.Gly20Glu) c.602G>A (p.Gly201Glu) c.-98-13707G>A (n.-98-13707G>A) n.5265G>A n.5306G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.43063898del | CA500146168 | BRCA1 | c.5126del (p.Gly1709GlufsTer4) c.5129del (p.Gly1710GlufsTer4) c.5003del (p.Gly1668GlufsTer4) c.5123del (p.Gly1708GlufsTer4) c.5051del (p.Gly1684GlufsTer4) c.1817del (p.Gly606GlufsTer4) c.1679del (p.Gly560GlufsTer4) c.4241del (p.Gly1414GlufsTer4) c.5006del (p.Gly1669GlufsTer4) c.5195del (p.Gly1732GlufsTer4) c.4988del (p.Gly1663GlufsTer4) c.1691del (p.Gly564GlufsTer4) c.5192del (p.Gly1731GlufsTer4) c.1516del c.1703del (p.Gly568GlufsTer4) c.*4912del (n.*4912del) c.1442del (p.Gly481GlufsTer4) c.59del (p.Gly20GlufsTer4) c.602del (p.Gly201GlufsTer4) c.-98-13707del (n.-98-13707del) n.5265del n.5306del | ClinVar dbSNP COSMIC |
17 | g.43063898C>A | CA003256 | BRCA1 | c.5125G>T (p.Gly1709Ter) c.5128G>T (p.Gly1710Ter) c.5002G>T (p.Gly1668Ter) c.5122G>T (p.Gly1708Ter) c.5050G>T (p.Gly1684Ter) c.1816G>T (p.Gly606Ter) c.1678G>T (p.Gly560Ter) c.4240G>T (p.Gly1414Ter) c.5005G>T (p.Gly1669Ter) c.5194G>T (p.Gly1732Ter) c.4987G>T (p.Gly1663Ter) c.1690G>T (p.Gly564Ter) c.5191G>T (p.Gly1731Ter) c.1515G>T c.1702G>T (p.Gly568Ter) c.*4911G>T (n.*4911G>T) c.1441G>T (p.Gly481Ter) c.58G>T (p.Gly20Ter) c.601G>T (p.Gly201Ter) c.-98-13708G>T (n.-98-13708G>T) n.5264G>T n.5305G>T | ClinVar dbSNP |
17 | g.43063898C= | CA2260769517 | BRCA1 | c.5125G= (p.Gly1709=) c.5128G= (p.Gly1710=) c.5002G= (p.Gly1668=) c.5122G= (p.Gly1708=) c.5050G= (p.Gly1684=) c.1816G= (p.Gly606=) c.1678G= (p.Gly560=) c.4240G= (p.Gly1414=) c.5005G= (p.Gly1669=) c.5194G= (p.Gly1732=) c.4987G= (p.Gly1663=) c.1690G= (p.Gly564=) c.5191G= (p.Gly1731=) c.1515G= c.1702G= (p.Gly568=) c.*4911G= (n.*4911G=) c.1441G= (p.Gly481=) c.58G= (p.Gly20=) c.601G= (p.Gly201=) c.-98-13708G= (n.-98-13708G=) n.5264G= n.5305G= | |
17 | g.43063898C>G | CA10591285 | BRCA1 | c.5125G>C (p.Gly1709Arg) c.5128G>C (p.Gly1710Arg) c.5002G>C (p.Gly1668Arg) c.5122G>C (p.Gly1708Arg) c.5050G>C (p.Gly1684Arg) c.1816G>C (p.Gly606Arg) c.1678G>C (p.Gly560Arg) c.4240G>C (p.Gly1414Arg) c.5005G>C (p.Gly1669Arg) c.5194G>C (p.Gly1732Arg) c.4987G>C (p.Gly1663Arg) c.1690G>C (p.Gly564Arg) c.5191G>C (p.Gly1731Arg) c.1515G>C c.1702G>C (p.Gly568Arg) c.*4911G>C (n.*4911G>C) c.1441G>C (p.Gly481Arg) c.58G>C (p.Gly20Arg) c.601G>C (p.Gly201Arg) c.-98-13708G>C (n.-98-13708G>C) n.5264G>C n.5305G>C | ClinVar dbSNP |
17 | g.43063898C>T | CA053953 | BRCA1 | c.5125G>A (p.Gly1709Arg) c.5128G>A (p.Gly1710Arg) c.5002G>A (p.Gly1668Arg) c.5122G>A (p.Gly1708Arg) c.5050G>A (p.Gly1684Arg) c.1816G>A (p.Gly606Arg) c.1678G>A (p.Gly560Arg) c.4240G>A (p.Gly1414Arg) c.5005G>A (p.Gly1669Arg) c.5194G>A (p.Gly1732Arg) c.4987G>A (p.Gly1663Arg) c.1690G>A (p.Gly564Arg) c.5191G>A (p.Gly1731Arg) c.1515G>A c.1702G>A (p.Gly568Arg) c.*4911G>A (n.*4911G>A) c.1441G>A (p.Gly481Arg) c.58G>A (p.Gly20Arg) c.601G>A (p.Gly201Arg) c.-98-13708G>A (n.-98-13708G>A) n.5264G>A n.5305G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43063898_43063899delinsCT | CA2260769518 | BRCA1 | c.5124_5125delinsAG (p.Gly1708=) c.5127_5128delinsAG (p.Gly1709=) c.5001_5002delinsAG (p.Gly1667=) c.5121_5122delinsAG (p.Gly1707=) c.5049_5050delinsAG (p.Gly1683=) c.1815_1816delinsAG (p.Gly605=) c.1677_1678delinsAG (p.Gly559=) c.4239_4240delinsAG (p.Gly1413=) c.5004_5005delinsAG (p.Gly1668=) c.5193_5194delinsAG (p.Gly1731=) c.4986_4987delinsAG (p.Gly1662=) c.1689_1690delinsAG (p.Gly563=) c.5190_5191delinsAG (p.Gly1730=) c.1514_1515delinsAG c.1701_1702delinsAG (p.Gly567=) c.*4910_*4911delinsAG (n.*4910_*4911delinsAG) c.1440_1441delinsAG (p.Gly480=) c.57_58delinsAG (p.Gly19=) c.600_601delinsAG (p.Gly200=) c.-98-13709_-98-13708delinsAG (n.-98-13709_-98-13708delinsAG) n.5263_5264delinsAG n.5304_5305delinsAG | |
17 | g.43063899del | CA919844104 | BRCA1 | c.5124del (p.Gly1709GlufsTer4) c.5127del (p.Gly1710GlufsTer4) c.5001del (p.Gly1668GlufsTer4) c.5121del (p.Gly1708GlufsTer4) c.5049del (p.Gly1684GlufsTer4) c.1815del (p.Gly606GlufsTer4) c.1677del (p.Gly560GlufsTer4) c.4239del (p.Gly1414GlufsTer4) c.5004del (p.Gly1669GlufsTer4) c.5193del (p.Gly1732GlufsTer4) c.4986del (p.Gly1663GlufsTer4) c.1689del (p.Gly564GlufsTer4) c.5190del (p.Gly1731GlufsTer4) c.1514del c.1701del (p.Gly568GlufsTer4) c.*4910del (n.*4910del) c.1440del (p.Gly481GlufsTer4) c.57del (p.Gly20GlufsTer4) c.600del (p.Gly201GlufsTer4) c.-98-13709del (n.-98-13709del) n.5263del n.5304del | dbSNP |
17 | g.43063899T>A | CA500146172 | BRCA1 | c.5124A>T (p.Gly1708=) c.5127A>T (p.Gly1709=) c.5001A>T (p.Gly1667=) c.5121A>T (p.Gly1707=) c.5049A>T (p.Gly1683=) c.1815A>T (p.Gly605=) c.1677A>T (p.Gly559=) c.4239A>T (p.Gly1413=) c.5004A>T (p.Gly1668=) c.5193A>T (p.Gly1731=) c.4986A>T (p.Gly1662=) c.1689A>T (p.Gly563=) c.5190A>T (p.Gly1730=) c.1514A>T c.1701A>T (p.Gly567=) c.*4910A>T (n.*4910A>T) c.1440A>T (p.Gly480=) c.57A>T (p.Gly19=) c.600A>T (p.Gly200=) c.-98-13709A>T (n.-98-13709A>T) n.5263A>T n.5304A>T | ClinVar dbSNP |
17 | g.43063899T>C | CA500146173 | BRCA1 | c.5124A>G (p.Gly1708=) c.5127A>G (p.Gly1709=) c.5001A>G (p.Gly1667=) c.5121A>G (p.Gly1707=) c.5049A>G (p.Gly1683=) c.1815A>G (p.Gly605=) c.1677A>G (p.Gly559=) c.4239A>G (p.Gly1413=) c.5004A>G (p.Gly1668=) c.5193A>G (p.Gly1731=) c.4986A>G (p.Gly1662=) c.1689A>G (p.Gly563=) c.5190A>G (p.Gly1730=) c.1514A>G c.1701A>G (p.Gly567=) c.*4910A>G (n.*4910A>G) c.1440A>G (p.Gly480=) c.57A>G (p.Gly19=) c.600A>G (p.Gly200=) c.-98-13709A>G (n.-98-13709A>G) n.5263A>G n.5304A>G | ClinVar dbSNP |
17 | g.43063899T>G | CA500146174 | BRCA1 | c.5124A>C (p.Gly1708=) c.5127A>C (p.Gly1709=) c.5001A>C (p.Gly1667=) c.5121A>C (p.Gly1707=) c.5049A>C (p.Gly1683=) c.1815A>C (p.Gly605=) c.1677A>C (p.Gly559=) c.4239A>C (p.Gly1413=) c.5004A>C (p.Gly1668=) c.5193A>C (p.Gly1731=) c.4986A>C (p.Gly1662=) c.1689A>C (p.Gly563=) c.5190A>C (p.Gly1730=) c.1514A>C c.1701A>C (p.Gly567=) c.*4910A>C (n.*4910A>C) c.1440A>C (p.Gly480=) c.57A>C (p.Gly19=) c.600A>C (p.Gly200=) c.-98-13709A>C (n.-98-13709A>C) n.5263A>C n.5304A>C | ClinVar dbSNP |
17 | g.43063899T= | CA2260769519 | BRCA1 | c.5124A= (p.Gly1708=) c.5127A= (p.Gly1709=) c.5001A= (p.Gly1667=) c.5121A= (p.Gly1707=) c.5049A= (p.Gly1683=) c.1815A= (p.Gly605=) c.1677A= (p.Gly559=) c.4239A= (p.Gly1413=) c.5004A= (p.Gly1668=) c.5193A= (p.Gly1731=) c.4986A= (p.Gly1662=) c.1689A= (p.Gly563=) c.5190A= (p.Gly1730=) c.1514A= c.1701A= (p.Gly567=) c.*4910A= (n.*4910A=) c.1440A= (p.Gly480=) c.57A= (p.Gly19=) c.600A= (p.Gly200=) c.-98-13709A= (n.-98-13709A=) n.5263A= n.5304A= | |
17 | g.43063899_43063900delinsTC | CA2260769520 | BRCA1 | c.5123_5124delinsGA (p.Gly1708=) c.5126_5127delinsGA (p.Gly1709=) c.5000_5001delinsGA (p.Gly1667=) c.5120_5121delinsGA (p.Gly1707=) c.5048_5049delinsGA (p.Gly1683=) c.1814_1815delinsGA (p.Gly605=) c.1676_1677delinsGA (p.Gly559=) c.4238_4239delinsGA (p.Gly1413=) c.5003_5004delinsGA (p.Gly1668=) c.5192_5193delinsGA (p.Gly1731=) c.4985_4986delinsGA (p.Gly1662=) c.1688_1689delinsGA (p.Gly563=) c.5189_5190delinsGA (p.Gly1730=) c.1513_1514delinsGA c.1700_1701delinsGA (p.Gly567=) c.*4909_*4910delinsGA (n.*4909_*4910delinsGA) c.1439_1440delinsGA (p.Gly480=) c.56_57delinsGA (p.Gly19=) c.599_600delinsGA (p.Gly200=) c.-98-13710_-98-13709delinsGA (n.-98-13710_-98-13709delinsGA) n.5262_5263delinsGA n.5303_5304delinsGA | |
17 | g.43063900C>A | CA10591286 | BRCA1 | c.5123G>T (p.Gly1708Val) c.5126G>T (p.Gly1709Val) c.5000G>T (p.Gly1667Val) c.5120G>T (p.Gly1707Val) c.5048G>T (p.Gly1683Val) c.1814G>T (p.Gly605Val) c.1676G>T (p.Gly559Val) c.4238G>T (p.Gly1413Val) c.5003G>T (p.Gly1668Val) c.5192G>T (p.Gly1731Val) c.4985G>T (p.Gly1662Val) c.1688G>T (p.Gly563Val) c.5189G>T (p.Gly1730Val) c.1513G>T c.1700G>T (p.Gly567Val) c.*4909G>T (n.*4909G>T) c.1439G>T (p.Gly480Val) c.56G>T (p.Gly19Val) c.599G>T (p.Gly200Val) c.-98-13710G>T (n.-98-13710G>T) n.5262G>T n.5303G>T | ClinVar dbSNP |
17 | g.43063900C= | CA2260769521 | BRCA1 | c.5123G= (p.Gly1708=) c.5126G= (p.Gly1709=) c.5000G= (p.Gly1667=) c.5120G= (p.Gly1707=) c.5048G= (p.Gly1683=) c.1814G= (p.Gly605=) c.1676G= (p.Gly559=) c.4238G= (p.Gly1413=) c.5003G= (p.Gly1668=) c.5192G= (p.Gly1731=) c.4985G= (p.Gly1662=) c.1688G= (p.Gly563=) c.5189G= (p.Gly1730=) c.1513G= c.1700G= (p.Gly567=) c.*4909G= (n.*4909G=) c.1439G= (p.Gly480=) c.56G= (p.Gly19=) c.599G= (p.Gly200=) c.-98-13710G= (n.-98-13710G=) n.5262G= n.5303G= | |
17 | g.43063900C>G | CA10591287 | BRCA1 | c.5123G>C (p.Gly1708Ala) c.5126G>C (p.Gly1709Ala) c.5000G>C (p.Gly1667Ala) c.5120G>C (p.Gly1707Ala) c.5048G>C (p.Gly1683Ala) c.1814G>C (p.Gly605Ala) c.1676G>C (p.Gly559Ala) c.4238G>C (p.Gly1413Ala) c.5003G>C (p.Gly1668Ala) c.5192G>C (p.Gly1731Ala) c.4985G>C (p.Gly1662Ala) c.1688G>C (p.Gly563Ala) c.5189G>C (p.Gly1730Ala) c.1513G>C c.1700G>C (p.Gly567Ala) c.*4909G>C (n.*4909G>C) c.1439G>C (p.Gly480Ala) c.56G>C (p.Gly19Ala) c.599G>C (p.Gly200Ala) c.-98-13710G>C (n.-98-13710G>C) n.5262G>C n.5303G>C | ClinVar dbSNP |
17 | g.43063900C>T | CA003255 | BRCA1 | c.5123G>A (p.Gly1708Glu) c.5126G>A (p.Gly1709Glu) c.5000G>A (p.Gly1667Glu) c.5120G>A (p.Gly1707Glu) c.5048G>A (p.Gly1683Glu) c.1814G>A (p.Gly605Glu) c.1676G>A (p.Gly559Glu) c.4238G>A (p.Gly1413Glu) c.5003G>A (p.Gly1668Glu) c.5192G>A (p.Gly1731Glu) c.4985G>A (p.Gly1662Glu) c.1688G>A (p.Gly563Glu) c.5189G>A (p.Gly1730Glu) c.1513G>A c.1700G>A (p.Gly567Glu) c.*4909G>A (n.*4909G>A) c.1439G>A (p.Gly480Glu) c.56G>A (p.Gly19Glu) c.599G>A (p.Gly200Glu) c.-98-13710G>A (n.-98-13710G>A) n.5262G>A n.5303G>A | ClinVar dbSNP gnomAD v4 |
17 | g.43063902del | CA003254 | BRCA1 | c.5123del (p.Gly1708GlufsTer5) c.5126del (p.Gly1709GlufsTer5) c.5000del (p.Gly1667GlufsTer5) c.5120del (p.Gly1707GlufsTer5) c.5048del (p.Gly1683GlufsTer5) c.1814del (p.Gly605GlufsTer5) c.1676del (p.Gly559GlufsTer5) c.4238del (p.Gly1413GlufsTer5) c.5003del (p.Gly1668GlufsTer5) c.5192del (p.Gly1731GlufsTer5) c.4985del (p.Gly1662GlufsTer5) c.1688del (p.Gly563GlufsTer5) c.5189del (p.Gly1730GlufsTer5) c.1513del c.1700del (p.Gly567GlufsTer5) c.*4909del (n.*4909del) c.1439del (p.Gly480GlufsTer5) c.56del (p.Gly19GlufsTer5) c.599del (p.Gly200GlufsTer5) c.-98-13710del (n.-98-13710del) n.5262del n.5303del | ClinVar dbSNP |
17 | g.43063901C>A | CA10591288 | BRCA1 | c.5122G>T (p.Gly1708Ter) c.5125G>T (p.Gly1709Ter) c.4999G>T (p.Gly1667Ter) c.5119G>T (p.Gly1707Ter) c.5047G>T (p.Gly1683Ter) c.1813G>T (p.Gly605Ter) c.1675G>T (p.Gly559Ter) c.4237G>T (p.Gly1413Ter) c.5002G>T (p.Gly1668Ter) c.5191G>T (p.Gly1731Ter) c.4984G>T (p.Gly1662Ter) c.1687G>T (p.Gly563Ter) c.5188G>T (p.Gly1730Ter) c.1512G>T c.1699G>T (p.Gly567Ter) c.*4908G>T (n.*4908G>T) c.1438G>T (p.Gly480Ter) c.55G>T (p.Gly19Ter) c.598G>T (p.Gly200Ter) c.-98-13711G>T (n.-98-13711G>T) n.5261G>T n.5302G>T | ClinVar dbSNP |
17 | g.43063901C= | CA2260769522 | BRCA1 | c.5122G= (p.Gly1708=) c.5125G= (p.Gly1709=) c.4999G= (p.Gly1667=) c.5119G= (p.Gly1707=) c.5047G= (p.Gly1683=) c.1813G= (p.Gly605=) c.1675G= (p.Gly559=) c.4237G= (p.Gly1413=) c.5002G= (p.Gly1668=) c.5191G= (p.Gly1731=) c.4984G= (p.Gly1662=) c.1687G= (p.Gly563=) c.5188G= (p.Gly1730=) c.1512G= c.1699G= (p.Gly567=) c.*4908G= (n.*4908G=) c.1438G= (p.Gly480=) c.55G= (p.Gly19=) c.598G= (p.Gly200=) c.-98-13711G= (n.-98-13711G=) n.5261G= n.5302G= | |
17 | g.43063901C>G | CA10591289 | BRCA1 | c.5122G>C (p.Gly1708Arg) c.5125G>C (p.Gly1709Arg) c.4999G>C (p.Gly1667Arg) c.5119G>C (p.Gly1707Arg) c.5047G>C (p.Gly1683Arg) c.1813G>C (p.Gly605Arg) c.1675G>C (p.Gly559Arg) c.4237G>C (p.Gly1413Arg) c.5002G>C (p.Gly1668Arg) c.5191G>C (p.Gly1731Arg) c.4984G>C (p.Gly1662Arg) c.1687G>C (p.Gly563Arg) c.5188G>C (p.Gly1730Arg) c.1512G>C c.1699G>C (p.Gly567Arg) c.*4908G>C (n.*4908G>C) c.1438G>C (p.Gly480Arg) c.55G>C (p.Gly19Arg) c.598G>C (p.Gly200Arg) c.-98-13711G>C (n.-98-13711G>C) n.5261G>C n.5302G>C | ClinVar dbSNP |
17 | g.43063901C>T | CA10586677 | BRCA1 | c.5122G>A (p.Gly1708Arg) c.5125G>A (p.Gly1709Arg) c.4999G>A (p.Gly1667Arg) c.5119G>A (p.Gly1707Arg) c.5047G>A (p.Gly1683Arg) c.1813G>A (p.Gly605Arg) c.1675G>A (p.Gly559Arg) c.4237G>A (p.Gly1413Arg) c.5002G>A (p.Gly1668Arg) c.5191G>A (p.Gly1731Arg) c.4984G>A (p.Gly1662Arg) c.1687G>A (p.Gly563Arg) c.5188G>A (p.Gly1730Arg) c.1512G>A c.1699G>A (p.Gly567Arg) c.*4908G>A (n.*4908G>A) c.1438G>A (p.Gly480Arg) c.55G>A (p.Gly19Arg) c.598G>A (p.Gly200Arg) c.-98-13711G>A (n.-98-13711G>A) n.5261G>A n.5302G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.43063902C>A | CA500146177 | BRCA1 | c.5121G>T (p.Ala1707=) c.5124G>T (p.Ala1708=) c.4998G>T (p.Ala1666=) c.5118G>T (p.Ala1706=) c.5046G>T (p.Ala1682=) c.1812G>T (p.Ala604=) c.1674G>T (p.Ala558=) c.4236G>T (p.Ala1412=) c.5001G>T (p.Ala1667=) c.5190G>T (p.Ala1730=) c.4983G>T (p.Ala1661=) c.1686G>T (p.Ala562=) c.5187G>T (p.Ala1729=) c.1511G>T c.1698G>T (p.Ala566=) c.*4907G>T (n.*4907G>T) c.1437G>T (p.Ala479=) c.54G>T (p.Ala18=) c.597G>T (p.Ala199=) c.-98-13712G>T (n.-98-13712G>T) n.5260G>T n.5301G>T | ClinVar dbSNP |
17 | g.43063902C= | CA2260769523 | BRCA1 | c.5121G= (p.Ala1707=) c.5124G= (p.Ala1708=) c.4998G= (p.Ala1666=) c.5118G= (p.Ala1706=) c.5046G= (p.Ala1682=) c.1812G= (p.Ala604=) c.1674G= (p.Ala558=) c.4236G= (p.Ala1412=) c.5001G= (p.Ala1667=) c.5190G= (p.Ala1730=) c.4983G= (p.Ala1661=) c.1686G= (p.Ala562=) c.5187G= (p.Ala1729=) c.1511G= c.1698G= (p.Ala566=) c.*4907G= (n.*4907G=) c.1437G= (p.Ala479=) c.54G= (p.Ala18=) c.597G= (p.Ala199=) c.-98-13712G= (n.-98-13712G=) n.5260G= n.5301G= | |
17 | g.43063902C>G | CA500146178 | BRCA1 | c.5121G>C (p.Ala1707=) c.5124G>C (p.Ala1708=) c.4998G>C (p.Ala1666=) c.5118G>C (p.Ala1706=) c.5046G>C (p.Ala1682=) c.1812G>C (p.Ala604=) c.1674G>C (p.Ala558=) c.4236G>C (p.Ala1412=) c.5001G>C (p.Ala1667=) c.5190G>C (p.Ala1730=) c.4983G>C (p.Ala1661=) c.1686G>C (p.Ala562=) c.5187G>C (p.Ala1729=) c.1511G>C c.1698G>C (p.Ala566=) c.*4907G>C (n.*4907G>C) c.1437G>C (p.Ala479=) c.54G>C (p.Ala18=) c.597G>C (p.Ala199=) c.-98-13712G>C (n.-98-13712G>C) n.5260G>C n.5301G>C | ClinVar dbSNP |
17 | g.43063902C>T | CA16607606 | BRCA1 | c.5121G>A (p.Ala1707=) c.5124G>A (p.Ala1708=) c.4998G>A (p.Ala1666=) c.5118G>A (p.Ala1706=) c.5046G>A (p.Ala1682=) c.1812G>A (p.Ala604=) c.1674G>A (p.Ala558=) c.4236G>A (p.Ala1412=) c.5001G>A (p.Ala1667=) c.5190G>A (p.Ala1730=) c.4983G>A (p.Ala1661=) c.1686G>A (p.Ala562=) c.5187G>A (p.Ala1729=) c.1511G>A c.1698G>A (p.Ala566=) c.*4907G>A (n.*4907G>A) c.1437G>A (p.Ala479=) c.54G>A (p.Ala18=) c.597G>A (p.Ala199=) c.-98-13712G>A (n.-98-13712G>A) n.5260G>A n.5301G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43063902_43063903delinsCG | CA2260769524 | BRCA1 | c.5120_5121delinsCG (p.Ala1707=) c.5123_5124delinsCG (p.Ala1708=) c.4997_4998delinsCG (p.Ala1666=) c.5117_5118delinsCG (p.Ala1706=) c.5045_5046delinsCG (p.Ala1682=) c.1811_1812delinsCG (p.Ala604=) c.1673_1674delinsCG (p.Ala558=) c.4235_4236delinsCG (p.Ala1412=) c.5000_5001delinsCG (p.Ala1667=) c.5189_5190delinsCG (p.Ala1730=) c.4982_4983delinsCG (p.Ala1661=) c.1685_1686delinsCG (p.Ala562=) c.5186_5187delinsCG (p.Ala1729=) c.1510_1511delinsCG c.1697_1698delinsCG (p.Ala566=) c.*4906_*4907delinsCG (n.*4906_*4907delinsCG) c.1436_1437delinsCG (p.Ala479=) c.53_54delinsCG (p.Ala18=) c.596_597delinsCG (p.Ala199=) c.-98-13713_-98-13712delinsCG (n.-98-13713_-98-13712delinsCG) n.5259_5260delinsCG n.5300_5301delinsCG | |
17 | g.43063903del | CA10586604 | BRCA1 | c.5120del (p.Ala1707GlyfsTer6) c.5123del (p.Ala1708GlyfsTer6) c.4997del (p.Ala1666GlyfsTer6) c.5117del (p.Ala1706GlyfsTer6) c.5045del (p.Ala1682GlyfsTer6) c.1811del (p.Ala604GlyfsTer6) c.1673del (p.Ala558GlyfsTer6) c.4235del (p.Ala1412GlyfsTer6) c.5000del (p.Ala1667GlyfsTer6) c.5189del (p.Ala1730GlyfsTer6) c.4982del (p.Ala1661GlyfsTer6) c.1685del (p.Ala562GlyfsTer6) c.5186del (p.Ala1729GlyfsTer6) c.1510del c.1697del (p.Ala566GlyfsTer6) c.*4906del (n.*4906del) c.1436del (p.Ala479GlyfsTer6) c.53del (p.Ala18GlyfsTer6) c.596del (p.Ala199GlyfsTer6) c.-98-13713del (n.-98-13713del) n.5259del n.5300del | ClinVar dbSNP |
17 | g.43063903G>A | CA003253 | BRCA1 | c.5120C>T (p.Ala1707Val) c.5123C>T (p.Ala1708Val) c.4997C>T (p.Ala1666Val) c.5117C>T (p.Ala1706Val) c.5045C>T (p.Ala1682Val) c.1811C>T (p.Ala604Val) c.1673C>T (p.Ala558Val) c.4235C>T (p.Ala1412Val) c.5000C>T (p.Ala1667Val) c.5189C>T (p.Ala1730Val) c.4982C>T (p.Ala1661Val) c.1685C>T (p.Ala562Val) c.5186C>T (p.Ala1729Val) c.1510C>T c.1697C>T (p.Ala566Val) c.*4906C>T (n.*4906C>T) c.1436C>T (p.Ala479Val) c.53C>T (p.Ala18Val) c.596C>T (p.Ala199Val) c.-98-13713C>T (n.-98-13713C>T) n.5259C>T n.5300C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43063903G>C | CA10591290 | BRCA1 | c.5120C>G (p.Ala1707Gly) c.5123C>G (p.Ala1708Gly) c.4997C>G (p.Ala1666Gly) c.5117C>G (p.Ala1706Gly) c.5045C>G (p.Ala1682Gly) c.1811C>G (p.Ala604Gly) c.1673C>G (p.Ala558Gly) c.4235C>G (p.Ala1412Gly) c.5000C>G (p.Ala1667Gly) c.5189C>G (p.Ala1730Gly) c.4982C>G (p.Ala1661Gly) c.1685C>G (p.Ala562Gly) c.5186C>G (p.Ala1729Gly) c.1510C>G c.1697C>G (p.Ala566Gly) c.*4906C>G (n.*4906C>G) c.1436C>G (p.Ala479Gly) c.53C>G (p.Ala18Gly) c.596C>G (p.Ala199Gly) c.-98-13713C>G (n.-98-13713C>G) n.5259C>G n.5300C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.43063903G= | CA2260769525 | BRCA1 | c.5120C= (p.Ala1707=) c.5123C= (p.Ala1708=) c.4997C= (p.Ala1666=) c.5117C= (p.Ala1706=) c.5045C= (p.Ala1682=) c.1811C= (p.Ala604=) c.1673C= (p.Ala558=) c.4235C= (p.Ala1412=) c.5000C= (p.Ala1667=) c.5189C= (p.Ala1730=) c.4982C= (p.Ala1661=) c.1685C= (p.Ala562=) c.5186C= (p.Ala1729=) c.1510C= c.1697C= (p.Ala566=) c.*4906C= (n.*4906C=) c.1436C= (p.Ala479=) c.53C= (p.Ala18=) c.596C= (p.Ala199=) c.-98-13713C= (n.-98-13713C=) n.5259C= n.5300C= | |
17 | g.43063903G>T | CA003252 | BRCA1 | c.5120C>A (p.Ala1707Glu) c.5123C>A (p.Ala1708Glu) c.4997C>A (p.Ala1666Glu) c.5117C>A (p.Ala1706Glu) c.5045C>A (p.Ala1682Glu) c.1811C>A (p.Ala604Glu) c.1673C>A (p.Ala558Glu) c.4235C>A (p.Ala1412Glu) c.5000C>A (p.Ala1667Glu) c.5189C>A (p.Ala1730Glu) c.4982C>A (p.Ala1661Glu) c.1685C>A (p.Ala562Glu) c.5186C>A (p.Ala1729Glu) c.1510C>A c.1697C>A (p.Ala566Glu) c.*4906C>A (n.*4906C>A) c.1436C>A (p.Ala479Glu) c.53C>A (p.Ala18Glu) c.596C>A (p.Ala199Glu) c.-98-13713C>A (n.-98-13713C>A) n.5259C>A n.5300C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43063904C>A | CA10591291 | BRCA1 | c.5119G>T (p.Ala1707Ser) c.5122G>T (p.Ala1708Ser) c.4996G>T (p.Ala1666Ser) c.5116G>T (p.Ala1706Ser) c.5044G>T (p.Ala1682Ser) c.1810G>T (p.Ala604Ser) c.1672G>T (p.Ala558Ser) c.4234G>T (p.Ala1412Ser) c.4999G>T (p.Ala1667Ser) c.5188G>T (p.Ala1730Ser) c.4981G>T (p.Ala1661Ser) c.1684G>T (p.Ala562Ser) c.5185G>T (p.Ala1729Ser) c.1509G>T c.1696G>T (p.Ala566Ser) c.*4905G>T (n.*4905G>T) c.1435G>T (p.Ala479Ser) c.52G>T (p.Ala18Ser) c.595G>T (p.Ala199Ser) c.-98-13714G>T (n.-98-13714G>T) n.5258G>T n.5299G>T | ClinVar dbSNP |
17 | g.43063904C= | CA2260769527 | BRCA1 | c.5119G= (p.Ala1707=) c.5122G= (p.Ala1708=) c.4996G= (p.Ala1666=) c.5116G= (p.Ala1706=) c.5044G= (p.Ala1682=) c.1810G= (p.Ala604=) c.1672G= (p.Ala558=) c.4234G= (p.Ala1412=) c.4999G= (p.Ala1667=) c.5188G= (p.Ala1730=) c.4981G= (p.Ala1661=) c.1684G= (p.Ala562=) c.5185G= (p.Ala1729=) c.1509G= c.1696G= (p.Ala566=) c.*4905G= (n.*4905G=) c.1435G= (p.Ala479=) c.52G= (p.Ala18=) c.595G= (p.Ala199=) c.-98-13714G= (n.-98-13714G=) n.5258G= n.5299G= | |
17 | g.43063904C>G | CA10591292 | BRCA1 | c.5119G>C (p.Ala1707Pro) c.5122G>C (p.Ala1708Pro) c.4996G>C (p.Ala1666Pro) c.5116G>C (p.Ala1706Pro) c.5044G>C (p.Ala1682Pro) c.1810G>C (p.Ala604Pro) c.1672G>C (p.Ala558Pro) c.4234G>C (p.Ala1412Pro) c.4999G>C (p.Ala1667Pro) c.5188G>C (p.Ala1730Pro) c.4981G>C (p.Ala1661Pro) c.1684G>C (p.Ala562Pro) c.5185G>C (p.Ala1729Pro) c.1509G>C c.1696G>C (p.Ala566Pro) c.*4905G>C (n.*4905G>C) c.1435G>C (p.Ala479Pro) c.52G>C (p.Ala18Pro) c.595G>C (p.Ala199Pro) c.-98-13714G>C (n.-98-13714G>C) n.5258G>C n.5299G>C | ClinVar dbSNP |
17 | g.43063904C>T | CA003251 | BRCA1 | c.5119G>A (p.Ala1707Thr) c.5122G>A (p.Ala1708Thr) c.4996G>A (p.Ala1666Thr) c.5116G>A (p.Ala1706Thr) c.5044G>A (p.Ala1682Thr) c.1810G>A (p.Ala604Thr) c.1672G>A (p.Ala558Thr) c.4234G>A (p.Ala1412Thr) c.4999G>A (p.Ala1667Thr) c.5188G>A (p.Ala1730Thr) c.4981G>A (p.Ala1661Thr) c.1684G>A (p.Ala562Thr) c.5185G>A (p.Ala1729Thr) c.1509G>A c.1696G>A (p.Ala566Thr) c.*4905G>A (n.*4905G>A) c.1435G>A (p.Ala479Thr) c.52G>A (p.Ala18Thr) c.595G>A (p.Ala199Thr) c.-98-13714G>A (n.-98-13714G>A) n.5258G>A n.5299G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.43063904_43063912delinsCAATTCCTA | CA2260769526 | BRCA1 | c.5111_5119delinsTAGGAATTG (p.Leu1704=) c.5114_5122delinsTAGGAATTG (p.Leu1705=) c.4988_4996delinsTAGGAATTG (p.Leu1663=) c.5108_5116delinsTAGGAATTG (p.Leu1703=) c.5036_5044delinsTAGGAATTG (p.Leu1679=) c.1802_1810delinsTAGGAATTG (p.Leu601=) c.1664_1672delinsTAGGAATTG (p.Leu555=) c.4226_4234delinsTAGGAATTG (p.Leu1409=) c.4991_4999delinsTAGGAATTG (p.Leu1664=) c.5180_5188delinsTAGGAATTG (p.Leu1727=) c.4973_4981delinsTAGGAATTG (p.Leu1658=) c.1676_1684delinsTAGGAATTG (p.Leu559=) c.5177_5185delinsTAGGAATTG (p.Leu1726=) c.1501_1509delinsTAGGAATTG c.1688_1696delinsTAGGAATTG (p.Leu563=) c.*4897_*4905delinsTAGGAATTG (n.*4897_*4905delinsTAGGAATTG) c.1427_1435delinsTAGGAATTG (p.Leu476=) c.44_52delinsTAGGAATTG (p.Leu15=) c.587_595delinsTAGGAATTG (p.Leu196=) c.-98-13722_-98-13714delinsTAGGAATTG (n.-98-13722_-98-13714delinsTAGGAATTG) n.5250_5258delinsTAGGAATTG n.5291_5299delinsTAGGAATTG | |
17 | g.43063905A= | CA2260769528 | BRCA1 | c.5118T= (p.Ile1706=) c.5121T= (p.Ile1707=) c.4995T= (p.Ile1665=) c.5115T= (p.Ile1705=) c.5043T= (p.Ile1681=) c.1809T= (p.Ile603=) c.1671T= (p.Ile557=) c.4233T= (p.Ile1411=) c.4998T= (p.Ile1666=) c.5187T= (p.Ile1729=) c.4980T= (p.Ile1660=) c.1683T= (p.Ile561=) c.5184T= (p.Ile1728=) c.1508T= c.1695T= (p.Ile565=) c.*4904T= (n.*4904T=) c.1434T= (p.Ile478=) c.51T= (p.Ile17=) c.594T= (p.Ile198=) c.-98-13715T= (n.-98-13715T=) n.5257T= n.5298T= | |
17 | g.43063905A>C | CA10591293 | BRCA1 | c.5118T>G (p.Ile1706Met) c.5121T>G (p.Ile1707Met) c.4995T>G (p.Ile1665Met) c.5115T>G (p.Ile1705Met) c.5043T>G (p.Ile1681Met) c.1809T>G (p.Ile603Met) c.1671T>G (p.Ile557Met) c.4233T>G (p.Ile1411Met) c.4998T>G (p.Ile1666Met) c.5187T>G (p.Ile1729Met) c.4980T>G (p.Ile1660Met) c.1683T>G (p.Ile561Met) c.5184T>G (p.Ile1728Met) c.1508T>G c.1695T>G (p.Ile565Met) c.*4904T>G (n.*4904T>G) c.1434T>G (p.Ile478Met) c.51T>G (p.Ile17Met) c.594T>G (p.Ile198Met) c.-98-13715T>G (n.-98-13715T>G) n.5257T>G n.5298T>G | ClinVar dbSNP |
17 | g.43063905A>G | CA500146183 | BRCA1 | c.5118T>C (p.Ile1706=) c.5121T>C (p.Ile1707=) c.4995T>C (p.Ile1665=) c.5115T>C (p.Ile1705=) c.5043T>C (p.Ile1681=) c.1809T>C (p.Ile603=) c.1671T>C (p.Ile557=) c.4233T>C (p.Ile1411=) c.4998T>C (p.Ile1666=) c.5187T>C (p.Ile1729=) c.4980T>C (p.Ile1660=) c.1683T>C (p.Ile561=) c.5184T>C (p.Ile1728=) c.1508T>C c.1695T>C (p.Ile565=) c.*4904T>C (n.*4904T>C) c.1434T>C (p.Ile478=) c.51T>C (p.Ile17=) c.594T>C (p.Ile198=) c.-98-13715T>C (n.-98-13715T>C) n.5257T>C n.5298T>C | ClinVar dbSNP |
17 | g.43063905A>T | CA500146184 | BRCA1 | c.5118T>A (p.Ile1706=) c.5121T>A (p.Ile1707=) c.4995T>A (p.Ile1665=) c.5115T>A (p.Ile1705=) c.5043T>A (p.Ile1681=) c.1809T>A (p.Ile603=) c.1671T>A (p.Ile557=) c.4233T>A (p.Ile1411=) c.4998T>A (p.Ile1666=) c.5187T>A (p.Ile1729=) c.4980T>A (p.Ile1660=) c.1683T>A (p.Ile561=) c.5184T>A (p.Ile1728=) c.1508T>A c.1695T>A (p.Ile565=) c.*4904T>A (n.*4904T>A) c.1434T>A (p.Ile478=) c.51T>A (p.Ile17=) c.594T>A (p.Ile198=) c.-98-13715T>A (n.-98-13715T>A) n.5257T>A n.5298T>A | ClinVar dbSNP |
17 | g.43063905_43063912del | CA10589618 | BRCA1 | c.5111_5118del (p.Leu1704ArgfsTer8) c.5114_5121del (p.Leu1705ArgfsTer8) c.4988_4995del (p.Leu1663ArgfsTer8) c.5108_5115del (p.Leu1703ArgfsTer8) c.5036_5043del (p.Leu1679ArgfsTer8) c.1802_1809del (p.Leu601ArgfsTer8) c.1664_1671del (p.Leu555ArgfsTer8) c.4226_4233del (p.Leu1409ArgfsTer8) c.4991_4998del (p.Leu1664ArgfsTer8) c.5180_5187del (p.Leu1727ArgfsTer8) c.4973_4980del (p.Leu1658ArgfsTer8) c.1676_1683del (p.Leu559ArgfsTer8) c.5177_5184del (p.Leu1726ArgfsTer8) c.1501_1508del c.1688_1695del (p.Leu563ArgfsTer8) c.*4897_*4904del (n.*4897_*4904del) c.1427_1434del (p.Leu476ArgfsTer8) c.44_51del (p.Leu15ArgfsTer8) c.587_594del (p.Leu196ArgfsTer8) c.-98-13722_-98-13715del (n.-98-13722_-98-13715del) n.5250_5257del n.5291_5298del | ClinVar dbSNP |
17 | g.43063905_43063913delinsT | CA2580093951 | BRCA1 | c.5110_5118delinsA (p.Leu1704SerfsTer8) c.5113_5121delinsA (p.Leu1705SerfsTer8) c.4987_4995delinsA (p.Leu1663SerfsTer8) c.5107_5115delinsA (p.Leu1703SerfsTer8) c.5035_5043delinsA (p.Leu1679SerfsTer8) c.1801_1809delinsA (p.Leu601SerfsTer8) c.1663_1671delinsA (p.Leu555SerfsTer8) c.4225_4233delinsA (p.Leu1409SerfsTer8) c.4990_4998delinsA (p.Leu1664SerfsTer8) c.5179_5187delinsA (p.Leu1727SerfsTer8) c.4972_4980delinsA (p.Leu1658SerfsTer8) c.1675_1683delinsA (p.Leu559SerfsTer8) c.5176_5184delinsA (p.Leu1726SerfsTer8) c.1500_1508delinsA c.1687_1695delinsA (p.Leu563SerfsTer8) c.*4896_*4904delinsA (n.*4896_*4904delinsA) c.1426_1434delinsA (p.Leu476SerfsTer8) c.43_51delinsA (p.Leu15SerfsTer8) c.586_594delinsA (p.Leu196SerfsTer8) c.-98-13723_-98-13715delinsA (n.-98-13723_-98-13715delinsA) n.5249_5257delinsA n.5290_5298delinsA | ClinVar |
17 | g.43063906A= | CA2260769529 | BRCA1 | c.5117T= (p.Ile1706=) c.5120T= (p.Ile1707=) c.4994T= (p.Ile1665=) c.5114T= (p.Ile1705=) c.5042T= (p.Ile1681=) c.1808T= (p.Ile603=) c.1670T= (p.Ile557=) c.4232T= (p.Ile1411=) c.4997T= (p.Ile1666=) c.5186T= (p.Ile1729=) c.4979T= (p.Ile1660=) c.1682T= (p.Ile561=) c.5183T= (p.Ile1728=) c.1507T= c.1694T= (p.Ile565=) c.*4903T= (n.*4903T=) c.1433T= (p.Ile478=) c.50T= (p.Ile17=) c.593T= (p.Ile198=) c.-98-13716T= (n.-98-13716T=) n.5256T= n.5297T= | |
17 | g.43063906A>C | CA10591294 | BRCA1 | c.5117T>G (p.Ile1706Ser) c.5120T>G (p.Ile1707Ser) c.4994T>G (p.Ile1665Ser) c.5114T>G (p.Ile1705Ser) c.5042T>G (p.Ile1681Ser) c.1808T>G (p.Ile603Ser) c.1670T>G (p.Ile557Ser) c.4232T>G (p.Ile1411Ser) c.4997T>G (p.Ile1666Ser) c.5186T>G (p.Ile1729Ser) c.4979T>G (p.Ile1660Ser) c.1682T>G (p.Ile561Ser) c.5183T>G (p.Ile1728Ser) c.1507T>G c.1694T>G (p.Ile565Ser) c.*4903T>G (n.*4903T>G) c.1433T>G (p.Ile478Ser) c.50T>G (p.Ile17Ser) c.593T>G (p.Ile198Ser) c.-98-13716T>G (n.-98-13716T>G) n.5256T>G n.5297T>G | ClinVar dbSNP |
17 | g.43063906A>G | CA10591295 | BRCA1 | c.5117T>C (p.Ile1706Thr) c.5120T>C (p.Ile1707Thr) c.4994T>C (p.Ile1665Thr) c.5114T>C (p.Ile1705Thr) c.5042T>C (p.Ile1681Thr) c.1808T>C (p.Ile603Thr) c.1670T>C (p.Ile557Thr) c.4232T>C (p.Ile1411Thr) c.4997T>C (p.Ile1666Thr) c.5186T>C (p.Ile1729Thr) c.4979T>C (p.Ile1660Thr) c.1682T>C (p.Ile561Thr) c.5183T>C (p.Ile1728Thr) c.1507T>C c.1694T>C (p.Ile565Thr) c.*4903T>C (n.*4903T>C) c.1433T>C (p.Ile478Thr) c.50T>C (p.Ile17Thr) c.593T>C (p.Ile198Thr) c.-98-13716T>C (n.-98-13716T>C) n.5256T>C n.5297T>C | ClinVar dbSNP gnomAD v4 |
17 | g.43063906A>T | CA10591296 | BRCA1 | c.5117T>A (p.Ile1706Asn) c.5120T>A (p.Ile1707Asn) c.4994T>A (p.Ile1665Asn) c.5114T>A (p.Ile1705Asn) c.5042T>A (p.Ile1681Asn) c.1808T>A (p.Ile603Asn) c.1670T>A (p.Ile557Asn) c.4232T>A (p.Ile1411Asn) c.4997T>A (p.Ile1666Asn) c.5186T>A (p.Ile1729Asn) c.4979T>A (p.Ile1660Asn) c.1682T>A (p.Ile561Asn) c.5183T>A (p.Ile1728Asn) c.1507T>A c.1694T>A (p.Ile565Asn) c.*4903T>A (n.*4903T>A) c.1433T>A (p.Ile478Asn) c.50T>A (p.Ile17Asn) c.593T>A (p.Ile198Asn) c.-98-13716T>A (n.-98-13716T>A) n.5256T>A n.5297T>A | ClinVar dbSNP |
17 | g.43063907T>A | CA10591297 | BRCA1 | c.5116A>T (p.Ile1706Phe) c.5119A>T (p.Ile1707Phe) c.4993A>T (p.Ile1665Phe) c.5113A>T (p.Ile1705Phe) c.5041A>T (p.Ile1681Phe) c.1807A>T (p.Ile603Phe) c.1669A>T (p.Ile557Phe) c.4231A>T (p.Ile1411Phe) c.4996A>T (p.Ile1666Phe) c.5185A>T (p.Ile1729Phe) c.4978A>T (p.Ile1660Phe) c.1681A>T (p.Ile561Phe) c.5182A>T (p.Ile1728Phe) c.1506A>T c.1693A>T (p.Ile565Phe) c.*4902A>T (n.*4902A>T) c.1432A>T (p.Ile478Phe) c.49A>T (p.Ile17Phe) c.592A>T (p.Ile198Phe) c.-98-13717A>T (n.-98-13717A>T) n.5255A>T n.5296A>T | ClinVar dbSNP |
17 | g.43063907T>C | CA10591298 | BRCA1 | c.5116A>G (p.Ile1706Val) c.5119A>G (p.Ile1707Val) c.4993A>G (p.Ile1665Val) c.5113A>G (p.Ile1705Val) c.5041A>G (p.Ile1681Val) c.1807A>G (p.Ile603Val) c.1669A>G (p.Ile557Val) c.4231A>G (p.Ile1411Val) c.4996A>G (p.Ile1666Val) c.5185A>G (p.Ile1729Val) c.4978A>G (p.Ile1660Val) c.1681A>G (p.Ile561Val) c.5182A>G (p.Ile1728Val) c.1506A>G c.1693A>G (p.Ile565Val) c.*4902A>G (n.*4902A>G) c.1432A>G (p.Ile478Val) c.49A>G (p.Ile17Val) c.592A>G (p.Ile198Val) c.-98-13717A>G (n.-98-13717A>G) n.5255A>G n.5296A>G | ClinVar dbSNP |
17 | g.43063907T>G | CA10591299 | BRCA1 | c.5116A>C (p.Ile1706Leu) c.5119A>C (p.Ile1707Leu) c.4993A>C (p.Ile1665Leu) c.5113A>C (p.Ile1705Leu) c.5041A>C (p.Ile1681Leu) c.1807A>C (p.Ile603Leu) c.1669A>C (p.Ile557Leu) c.4231A>C (p.Ile1411Leu) c.4996A>C (p.Ile1666Leu) c.5185A>C (p.Ile1729Leu) c.4978A>C (p.Ile1660Leu) c.1681A>C (p.Ile561Leu) c.5182A>C (p.Ile1728Leu) c.1506A>C c.1693A>C (p.Ile565Leu) c.*4902A>C (n.*4902A>C) c.1432A>C (p.Ile478Leu) c.49A>C (p.Ile17Leu) c.592A>C (p.Ile198Leu) c.-98-13717A>C (n.-98-13717A>C) n.5255A>C n.5296A>C | ClinVar dbSNP gnomAD v4 |
17 | g.43063907T= | CA2260769530 | BRCA1 | c.5116A= (p.Ile1706=) c.5119A= (p.Ile1707=) c.4993A= (p.Ile1665=) c.5113A= (p.Ile1705=) c.5041A= (p.Ile1681=) c.1807A= (p.Ile603=) c.1669A= (p.Ile557=) c.4231A= (p.Ile1411=) c.4996A= (p.Ile1666=) c.5185A= (p.Ile1729=) c.4978A= (p.Ile1660=) c.1681A= (p.Ile561=) c.5182A= (p.Ile1728=) c.1506A= c.1693A= (p.Ile565=) c.*4902A= (n.*4902A=) c.1432A= (p.Ile478=) c.49A= (p.Ile17=) c.592A= (p.Ile198=) c.-98-13717A= (n.-98-13717A=) n.5255A= n.5296A= | |
17 | g.43063908T>A | CA500146186 | BRCA1 | c.5115A>T (p.Gly1705=) c.5118A>T (p.Gly1706=) c.4992A>T (p.Gly1664=) c.5112A>T (p.Gly1704=) c.5040A>T (p.Gly1680=) c.1806A>T (p.Gly602=) c.1668A>T (p.Gly556=) c.4230A>T (p.Gly1410=) c.4995A>T (p.Gly1665=) c.5184A>T (p.Gly1728=) c.4977A>T (p.Gly1659=) c.1680A>T (p.Gly560=) c.5181A>T (p.Gly1727=) c.1505A>T c.1692A>T (p.Gly564=) c.*4901A>T (n.*4901A>T) c.1431A>T (p.Gly477=) c.48A>T (p.Gly16=) c.591A>T (p.Gly197=) c.-98-13718A>T (n.-98-13718A>T) n.5254A>T n.5295A>T | ClinVar dbSNP |
17 | g.43063908T>C | CA500146188 | BRCA1 | c.5115A>G (p.Gly1705=) c.5118A>G (p.Gly1706=) c.4992A>G (p.Gly1664=) c.5112A>G (p.Gly1704=) c.5040A>G (p.Gly1680=) c.1806A>G (p.Gly602=) c.1668A>G (p.Gly556=) c.4230A>G (p.Gly1410=) c.4995A>G (p.Gly1665=) c.5184A>G (p.Gly1728=) c.4977A>G (p.Gly1659=) c.1680A>G (p.Gly560=) c.5181A>G (p.Gly1727=) c.1505A>G c.1692A>G (p.Gly564=) c.*4901A>G (n.*4901A>G) c.1431A>G (p.Gly477=) c.48A>G (p.Gly16=) c.591A>G (p.Gly197=) c.-98-13718A>G (n.-98-13718A>G) n.5254A>G n.5295A>G | ClinVar dbSNP |
17 | g.43063908T>G | CA500146187 | BRCA1 | c.5115A>C (p.Gly1705=) c.5118A>C (p.Gly1706=) c.4992A>C (p.Gly1664=) c.5112A>C (p.Gly1704=) c.5040A>C (p.Gly1680=) c.1806A>C (p.Gly602=) c.1668A>C (p.Gly556=) c.4230A>C (p.Gly1410=) c.4995A>C (p.Gly1665=) c.5184A>C (p.Gly1728=) c.4977A>C (p.Gly1659=) c.1680A>C (p.Gly560=) c.5181A>C (p.Gly1727=) c.1505A>C c.1692A>C (p.Gly564=) c.*4901A>C (n.*4901A>C) c.1431A>C (p.Gly477=) c.48A>C (p.Gly16=) c.591A>C (p.Gly197=) c.-98-13718A>C (n.-98-13718A>C) n.5254A>C n.5295A>C | ClinVar dbSNP |
17 | g.43063908T= | CA2260769531 | BRCA1 | c.5115A= (p.Gly1705=) c.5118A= (p.Gly1706=) c.4992A= (p.Gly1664=) c.5112A= (p.Gly1704=) c.5040A= (p.Gly1680=) c.1806A= (p.Gly602=) c.1668A= (p.Gly556=) c.4230A= (p.Gly1410=) c.4995A= (p.Gly1665=) c.5184A= (p.Gly1728=) c.4977A= (p.Gly1659=) c.1680A= (p.Gly560=) c.5181A= (p.Gly1727=) c.1505A= c.1692A= (p.Gly564=) c.*4901A= (n.*4901A=) c.1431A= (p.Gly477=) c.48A= (p.Gly16=) c.591A= (p.Gly197=) c.-98-13718A= (n.-98-13718A=) n.5254A= n.5295A= | |
17 | g.43063909C>A | CA10591300 | BRCA1 | c.5114G>T (p.Gly1705Val) c.5117G>T (p.Gly1706Val) c.4991G>T (p.Gly1664Val) c.5111G>T (p.Gly1704Val) c.5039G>T (p.Gly1680Val) c.1805G>T (p.Gly602Val) c.1667G>T (p.Gly556Val) c.4229G>T (p.Gly1410Val) c.4994G>T (p.Gly1665Val) c.5183G>T (p.Gly1728Val) c.4976G>T (p.Gly1659Val) c.1679G>T (p.Gly560Val) c.5180G>T (p.Gly1727Val) c.1504G>T c.1691G>T (p.Gly564Val) c.*4900G>T (n.*4900G>T) c.1430G>T (p.Gly477Val) c.47G>T (p.Gly16Val) c.590G>T (p.Gly197Val) c.-98-13719G>T (n.-98-13719G>T) n.5253G>T n.5294G>T | ClinVar dbSNP |
17 | g.43063909C= | CA2260769532 | BRCA1 | c.5114G= (p.Gly1705=) c.5117G= (p.Gly1706=) c.4991G= (p.Gly1664=) c.5111G= (p.Gly1704=) c.5039G= (p.Gly1680=) c.1805G= (p.Gly602=) c.1667G= (p.Gly556=) c.4229G= (p.Gly1410=) c.4994G= (p.Gly1665=) c.5183G= (p.Gly1728=) c.4976G= (p.Gly1659=) c.1679G= (p.Gly560=) c.5180G= (p.Gly1727=) c.1504G= c.1691G= (p.Gly564=) c.*4900G= (n.*4900G=) c.1430G= (p.Gly477=) c.47G= (p.Gly16=) c.590G= (p.Gly197=) c.-98-13719G= (n.-98-13719G=) n.5253G= n.5294G= | |
17 | g.43063909C>G | CA003250 | BRCA1 | c.5114G>C (p.Gly1705Ala) c.5117G>C (p.Gly1706Ala) c.4991G>C (p.Gly1664Ala) c.5111G>C (p.Gly1704Ala) c.5039G>C (p.Gly1680Ala) c.1805G>C (p.Gly602Ala) c.1667G>C (p.Gly556Ala) c.4229G>C (p.Gly1410Ala) c.4994G>C (p.Gly1665Ala) c.5183G>C (p.Gly1728Ala) c.4976G>C (p.Gly1659Ala) c.1679G>C (p.Gly560Ala) c.5180G>C (p.Gly1727Ala) c.1504G>C c.1691G>C (p.Gly564Ala) c.*4900G>C (n.*4900G>C) c.1430G>C (p.Gly477Ala) c.47G>C (p.Gly16Ala) c.590G>C (p.Gly197Ala) c.-98-13719G>C (n.-98-13719G>C) n.5253G>C n.5294G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43063909C>T | CA003249 | BRCA1 | c.5114G>A (p.Gly1705Glu) c.5117G>A (p.Gly1706Glu) c.4991G>A (p.Gly1664Glu) c.5111G>A (p.Gly1704Glu) c.5039G>A (p.Gly1680Glu) c.1805G>A (p.Gly602Glu) c.1667G>A (p.Gly556Glu) c.4229G>A (p.Gly1410Glu) c.4994G>A (p.Gly1665Glu) c.5183G>A (p.Gly1728Glu) c.4976G>A (p.Gly1659Glu) c.1679G>A (p.Gly560Glu) c.5180G>A (p.Gly1727Glu) c.1504G>A c.1691G>A (p.Gly564Glu) c.*4900G>A (n.*4900G>A) c.1430G>A (p.Gly477Glu) c.47G>A (p.Gly16Glu) c.590G>A (p.Gly197Glu) c.-98-13719G>A (n.-98-13719G>A) n.5253G>A n.5294G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43063910del | CA2580093952 | BRCA1 | c.5114del (p.Gly1705GlufsTer8) c.5117del (p.Gly1706GlufsTer8) c.4991del (p.Gly1664GlufsTer8) c.5111del (p.Gly1704GlufsTer8) c.5039del (p.Gly1680GlufsTer8) c.1805del (p.Gly602GlufsTer8) c.1667del (p.Gly556GlufsTer8) c.4229del (p.Gly1410GlufsTer8) c.4994del (p.Gly1665GlufsTer8) c.5183del (p.Gly1728GlufsTer8) c.4976del (p.Gly1659GlufsTer8) c.1679del (p.Gly560GlufsTer8) c.5180del (p.Gly1727GlufsTer8) c.1504del c.1691del (p.Gly564GlufsTer8) c.*4900del (n.*4900del) c.1430del (p.Gly477GlufsTer8) c.47del (p.Gly16GlufsTer8) c.590del (p.Gly197GlufsTer8) c.-98-13719del (n.-98-13719del) n.5253del n.5294del | ClinVar |
17 | g.43063910C>A | CA10591301 | BRCA1 | c.5113G>T (p.Gly1705Ter) c.5116G>T (p.Gly1706Ter) c.4990G>T (p.Gly1664Ter) c.5110G>T (p.Gly1704Ter) c.5038G>T (p.Gly1680Ter) c.1804G>T (p.Gly602Ter) c.1666G>T (p.Gly556Ter) c.4228G>T (p.Gly1410Ter) c.4993G>T (p.Gly1665Ter) c.5182G>T (p.Gly1728Ter) c.4975G>T (p.Gly1659Ter) c.1678G>T (p.Gly560Ter) c.5179G>T (p.Gly1727Ter) c.1503G>T c.1690G>T (p.Gly564Ter) c.*4899G>T (n.*4899G>T) c.1429G>T (p.Gly477Ter) c.46G>T (p.Gly16Ter) c.589G>T (p.Gly197Ter) c.-98-13720G>T (n.-98-13720G>T) n.5252G>T n.5293G>T | ClinVar dbSNP |
17 | g.43063910C= | CA2260769533 | BRCA1 | c.5113G= (p.Gly1705=) c.5116G= (p.Gly1706=) c.4990G= (p.Gly1664=) c.5110G= (p.Gly1704=) c.5038G= (p.Gly1680=) c.1804G= (p.Gly602=) c.1666G= (p.Gly556=) c.4228G= (p.Gly1410=) c.4993G= (p.Gly1665=) c.5182G= (p.Gly1728=) c.4975G= (p.Gly1659=) c.1678G= (p.Gly560=) c.5179G= (p.Gly1727=) c.1503G= c.1690G= (p.Gly564=) c.*4899G= (n.*4899G=) c.1429G= (p.Gly477=) c.46G= (p.Gly16=) c.589G= (p.Gly197=) c.-98-13720G= (n.-98-13720G=) n.5252G= n.5293G= | |
17 | g.43063910C>G | CA501117 | BRCA1 | c.5113G>C (p.Gly1705Arg) c.5116G>C (p.Gly1706Arg) c.4990G>C (p.Gly1664Arg) c.5110G>C (p.Gly1704Arg) c.5038G>C (p.Gly1680Arg) c.1804G>C (p.Gly602Arg) c.1666G>C (p.Gly556Arg) c.4228G>C (p.Gly1410Arg) c.4993G>C (p.Gly1665Arg) c.5182G>C (p.Gly1728Arg) c.4975G>C (p.Gly1659Arg) c.1678G>C (p.Gly560Arg) c.5179G>C (p.Gly1727Arg) c.1503G>C c.1690G>C (p.Gly564Arg) c.*4899G>C (n.*4899G>C) c.1429G>C (p.Gly477Arg) c.46G>C (p.Gly16Arg) c.589G>C (p.Gly197Arg) c.-98-13720G>C (n.-98-13720G>C) n.5252G>C n.5293G>C | ClinVar dbSNP |
17 | g.43063910C>T | CA10590060 | BRCA1 | c.5113G>A (p.Gly1705Arg) c.5116G>A (p.Gly1706Arg) c.4990G>A (p.Gly1664Arg) c.5110G>A (p.Gly1704Arg) c.5038G>A (p.Gly1680Arg) c.1804G>A (p.Gly602Arg) c.1666G>A (p.Gly556Arg) c.4228G>A (p.Gly1410Arg) c.4993G>A (p.Gly1665Arg) c.5182G>A (p.Gly1728Arg) c.4975G>A (p.Gly1659Arg) c.1678G>A (p.Gly560Arg) c.5179G>A (p.Gly1727Arg) c.1503G>A c.1690G>A (p.Gly564Arg) c.*4899G>A (n.*4899G>A) c.1429G>A (p.Gly477Arg) c.46G>A (p.Gly16Arg) c.589G>A (p.Gly197Arg) c.-98-13720G>A (n.-98-13720G>A) n.5252G>A n.5293G>A | ClinVar dbSNP |
17 | g.43063911T>A | CA500146194 | BRCA1 | c.5112A>T (p.Leu1704=) c.5115A>T (p.Leu1705=) c.4989A>T (p.Leu1663=) c.5109A>T (p.Leu1703=) c.5037A>T (p.Leu1679=) c.1803A>T (p.Leu601=) c.1665A>T (p.Leu555=) c.4227A>T (p.Leu1409=) c.4992A>T (p.Leu1664=) c.5181A>T (p.Leu1727=) c.4974A>T (p.Leu1658=) c.1677A>T (p.Leu559=) c.5178A>T (p.Leu1726=) c.1502A>T c.1689A>T (p.Leu563=) c.*4898A>T (n.*4898A>T) c.1428A>T (p.Leu476=) c.45A>T (p.Leu15=) c.588A>T (p.Leu196=) c.-98-13721A>T (n.-98-13721A>T) n.5251A>T n.5292A>T | ClinVar dbSNP |
17 | g.43063911T>C | CA500146193 | BRCA1 | c.5112A>G (p.Leu1704=) c.5115A>G (p.Leu1705=) c.4989A>G (p.Leu1663=) c.5109A>G (p.Leu1703=) c.5037A>G (p.Leu1679=) c.1803A>G (p.Leu601=) c.1665A>G (p.Leu555=) c.4227A>G (p.Leu1409=) c.4992A>G (p.Leu1664=) c.5181A>G (p.Leu1727=) c.4974A>G (p.Leu1658=) c.1677A>G (p.Leu559=) c.5178A>G (p.Leu1726=) c.1502A>G c.1689A>G (p.Leu563=) c.*4898A>G (n.*4898A>G) c.1428A>G (p.Leu476=) c.45A>G (p.Leu15=) c.588A>G (p.Leu196=) c.-98-13721A>G (n.-98-13721A>G) n.5251A>G n.5292A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.43063911T>G | CA053919 | BRCA1 | c.5112A>C (p.Leu1704=) c.5115A>C (p.Leu1705=) c.4989A>C (p.Leu1663=) c.5109A>C (p.Leu1703=) c.5037A>C (p.Leu1679=) c.1803A>C (p.Leu601=) c.1665A>C (p.Leu555=) c.4227A>C (p.Leu1409=) c.4992A>C (p.Leu1664=) c.5181A>C (p.Leu1727=) c.4974A>C (p.Leu1658=) c.1677A>C (p.Leu559=) c.5178A>C (p.Leu1726=) c.1502A>C c.1689A>C (p.Leu563=) c.*4898A>C (n.*4898A>C) c.1428A>C (p.Leu476=) c.45A>C (p.Leu15=) c.588A>C (p.Leu196=) c.-98-13721A>C (n.-98-13721A>C) n.5251A>C n.5292A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43063911T= | CA2260769534 | BRCA1 | c.5112A= (p.Leu1704=) c.5115A= (p.Leu1705=) c.4989A= (p.Leu1663=) c.5109A= (p.Leu1703=) c.5037A= (p.Leu1679=) c.1803A= (p.Leu601=) c.1665A= (p.Leu555=) c.4227A= (p.Leu1409=) c.4992A= (p.Leu1664=) c.5181A= (p.Leu1727=) c.4974A= (p.Leu1658=) c.1677A= (p.Leu559=) c.5178A= (p.Leu1726=) c.1502A= c.1689A= (p.Leu563=) c.*4898A= (n.*4898A=) c.1428A= (p.Leu476=) c.45A= (p.Leu15=) c.588A= (p.Leu196=) c.-98-13721A= (n.-98-13721A=) n.5251A= n.5292A= | |
17 | g.43063912A= | CA2260769535 | BRCA1 | c.5111T= (p.Leu1704=) c.5114T= (p.Leu1705=) c.4988T= (p.Leu1663=) c.5108T= (p.Leu1703=) c.5036T= (p.Leu1679=) c.1802T= (p.Leu601=) c.1664T= (p.Leu555=) c.4226T= (p.Leu1409=) c.4991T= (p.Leu1664=) c.5180T= (p.Leu1727=) c.4973T= (p.Leu1658=) c.1676T= (p.Leu559=) c.5177T= (p.Leu1726=) c.1501T= c.1688T= (p.Leu563=) c.*4897T= (n.*4897T=) c.1427T= (p.Leu476=) c.44T= (p.Leu15=) c.587T= (p.Leu196=) c.-98-13722T= (n.-98-13722T=) n.5250T= n.5291T= | |
17 | g.43063912A>C | CA10583550 | BRCA1 | c.5111T>G (p.Leu1704Arg) c.5114T>G (p.Leu1705Arg) c.4988T>G (p.Leu1663Arg) c.5108T>G (p.Leu1703Arg) c.5036T>G (p.Leu1679Arg) c.1802T>G (p.Leu601Arg) c.1664T>G (p.Leu555Arg) c.4226T>G (p.Leu1409Arg) c.4991T>G (p.Leu1664Arg) c.5180T>G (p.Leu1727Arg) c.4973T>G (p.Leu1658Arg) c.1676T>G (p.Leu559Arg) c.5177T>G (p.Leu1726Arg) c.1501T>G c.1688T>G (p.Leu563Arg) c.*4897T>G (n.*4897T>G) c.1427T>G (p.Leu476Arg) c.44T>G (p.Leu15Arg) c.587T>G (p.Leu196Arg) c.-98-13722T>G (n.-98-13722T>G) n.5250T>G n.5291T>G | ClinVar dbSNP |
17 | g.43063912A>G | CA003248 | BRCA1 | c.5111T>C (p.Leu1704Pro) c.5114T>C (p.Leu1705Pro) c.4988T>C (p.Leu1663Pro) c.5108T>C (p.Leu1703Pro) c.5036T>C (p.Leu1679Pro) c.1802T>C (p.Leu601Pro) c.1664T>C (p.Leu555Pro) c.4226T>C (p.Leu1409Pro) c.4991T>C (p.Leu1664Pro) c.5180T>C (p.Leu1727Pro) c.4973T>C (p.Leu1658Pro) c.1676T>C (p.Leu559Pro) c.5177T>C (p.Leu1726Pro) c.1501T>C c.1688T>C (p.Leu563Pro) c.*4897T>C (n.*4897T>C) c.1427T>C (p.Leu476Pro) c.44T>C (p.Leu15Pro) c.587T>C (p.Leu196Pro) c.-98-13722T>C (n.-98-13722T>C) n.5250T>C n.5291T>C | ClinVar dbSNP |
17 | g.43063912A>T | CA10591302 | BRCA1 | c.5111T>A (p.Leu1704Gln) c.5114T>A (p.Leu1705Gln) c.4988T>A (p.Leu1663Gln) c.5108T>A (p.Leu1703Gln) c.5036T>A (p.Leu1679Gln) c.1802T>A (p.Leu601Gln) c.1664T>A (p.Leu555Gln) c.4226T>A (p.Leu1409Gln) c.4991T>A (p.Leu1664Gln) c.5180T>A (p.Leu1727Gln) c.4973T>A (p.Leu1658Gln) c.1676T>A (p.Leu559Gln) c.5177T>A (p.Leu1726Gln) c.1501T>A c.1688T>A (p.Leu563Gln) c.*4897T>A (n.*4897T>A) c.1427T>A (p.Leu476Gln) c.44T>A (p.Leu15Gln) c.587T>A (p.Leu196Gln) c.-98-13722T>A (n.-98-13722T>A) n.5250T>A n.5291T>A | ClinVar dbSNP |
17 | g.43063913_43063914del | CA2499224380 | BRCA1 | c.5110_5111del (p.Leu1704ArgfsTer10) c.5113_5114del (p.Leu1705ArgfsTer10) c.4987_4988del (p.Leu1663ArgfsTer10) c.5107_5108del (p.Leu1703ArgfsTer10) c.5035_5036del (p.Leu1679ArgfsTer10) c.1801_1802del (p.Leu601ArgfsTer10) c.1663_1664del (p.Leu555ArgfsTer10) c.4225_4226del (p.Leu1409ArgfsTer10) c.4990_4991del (p.Leu1664ArgfsTer10) c.5179_5180del (p.Leu1727ArgfsTer10) c.4972_4973del (p.Leu1658ArgfsTer10) c.1675_1676del (p.Leu559ArgfsTer10) c.5176_5177del (p.Leu1726ArgfsTer10) c.1500_1501del c.1687_1688del (p.Leu563ArgfsTer10) c.*4896_*4897del (n.*4896_*4897del) c.1426_1427del (p.Leu476ArgfsTer10) c.43_44del (p.Leu15ArgfsTer10) c.586_587del (p.Leu196ArgfsTer10) c.-98-13723_-98-13722del (n.-98-13723_-98-13722del) n.5249_5250del n.5290_5291del | |
17 | g.43063913G>A | CA003247 | BRCA1 | c.5110C>T (p.Leu1704=) c.5113C>T (p.Leu1705=) c.4987C>T (p.Leu1663=) c.5107C>T (p.Leu1703=) c.5035C>T (p.Leu1679=) c.1801C>T (p.Leu601=) c.1663C>T (p.Leu555=) c.4225C>T (p.Leu1409=) c.4990C>T (p.Leu1664=) c.5179C>T (p.Leu1727=) c.4972C>T (p.Leu1658=) c.1675C>T (p.Leu559=) c.5176C>T (p.Leu1726=) c.1500C>T c.1687C>T (p.Leu563=) c.*4896C>T (n.*4896C>T) c.1426C>T (p.Leu476=) c.43C>T (p.Leu15=) c.586C>T (p.Leu196=) c.-98-13723C>T (n.-98-13723C>T) n.5249C>T n.5290C>T | ClinVar dbSNP gnomAD v4 |
17 | g.43063913G>C | CA003246 | BRCA1 | c.5110C>G (p.Leu1704Val) c.5113C>G (p.Leu1705Val) c.4987C>G (p.Leu1663Val) c.5107C>G (p.Leu1703Val) c.5035C>G (p.Leu1679Val) c.1801C>G (p.Leu601Val) c.1663C>G (p.Leu555Val) c.4225C>G (p.Leu1409Val) c.4990C>G (p.Leu1664Val) c.5179C>G (p.Leu1727Val) c.4972C>G (p.Leu1658Val) c.1675C>G (p.Leu559Val) c.5176C>G (p.Leu1726Val) c.1500C>G c.1687C>G (p.Leu563Val) c.*4896C>G (n.*4896C>G) c.1426C>G (p.Leu476Val) c.43C>G (p.Leu15Val) c.586C>G (p.Leu196Val) c.-98-13723C>G (n.-98-13723C>G) n.5249C>G n.5290C>G | ClinVar dbSNP |
17 | g.43063913G= | CA2260769536 | BRCA1 | c.5110C= (p.Leu1704=) c.5113C= (p.Leu1705=) c.4987C= (p.Leu1663=) c.5107C= (p.Leu1703=) c.5035C= (p.Leu1679=) c.1801C= (p.Leu601=) c.1663C= (p.Leu555=) c.4225C= (p.Leu1409=) c.4990C= (p.Leu1664=) c.5179C= (p.Leu1727=) c.4972C= (p.Leu1658=) c.1675C= (p.Leu559=) c.5176C= (p.Leu1726=) c.1500C= c.1687C= (p.Leu563=) c.*4896C= (n.*4896C=) c.1426C= (p.Leu476=) c.43C= (p.Leu15=) c.586C= (p.Leu196=) c.-98-13723C= (n.-98-13723C=) n.5249C= n.5290C= | |
17 | g.43063913G>T | CA10591303 | BRCA1 | c.5110C>A (p.Leu1704Ile) c.5113C>A (p.Leu1705Ile) c.4987C>A (p.Leu1663Ile) c.5107C>A (p.Leu1703Ile) c.5035C>A (p.Leu1679Ile) c.1801C>A (p.Leu601Ile) c.1663C>A (p.Leu555Ile) c.4225C>A (p.Leu1409Ile) c.4990C>A (p.Leu1664Ile) c.5179C>A (p.Leu1727Ile) c.4972C>A (p.Leu1658Ile) c.1675C>A (p.Leu559Ile) c.5176C>A (p.Leu1726Ile) c.1500C>A c.1687C>A (p.Leu563Ile) c.*4896C>A (n.*4896C>A) c.1426C>A (p.Leu476Ile) c.43C>A (p.Leu15Ile) c.586C>A (p.Leu196Ile) c.-98-13723C>A (n.-98-13723C>A) n.5249C>A n.5290C>A | ClinVar dbSNP |
17 | g.43063913_43063914delinsGA | CA2260769537 | BRCA1 | c.5109_5110delinsTC (p.Phe1703=) c.5112_5113delinsTC (p.Phe1704=) c.4986_4987delinsTC (p.Phe1662=) c.5106_5107delinsTC (p.Phe1702=) c.5034_5035delinsTC (p.Phe1678=) c.1800_1801delinsTC (p.Phe600=) c.1662_1663delinsTC (p.Phe554=) c.4224_4225delinsTC (p.Phe1408=) c.4989_4990delinsTC (p.Phe1663=) c.5178_5179delinsTC (p.Phe1726=) c.4971_4972delinsTC (p.Phe1657=) c.1674_1675delinsTC (p.Phe558=) c.5175_5176delinsTC (p.Phe1725=) c.1499_1500delinsTC c.1686_1687delinsTC (p.Phe562=) c.*4895_*4896delinsTC (n.*4895_*4896delinsTC) c.1425_1426delinsTC (p.Phe475=) c.42_43delinsTC (p.Phe14=) c.585_586delinsTC (p.Phe195=) c.-98-13724_-98-13723delinsTC (n.-98-13724_-98-13723delinsTC) n.5248_5249delinsTC n.5289_5290delinsTC | |
17 | g.43063914A= | CA2260769538 | BRCA1 | c.5109T= (p.Phe1703=) c.5112T= (p.Phe1704=) c.4986T= (p.Phe1662=) c.5106T= (p.Phe1702=) c.5034T= (p.Phe1678=) c.1800T= (p.Phe600=) c.1662T= (p.Phe554=) c.4224T= (p.Phe1408=) c.4989T= (p.Phe1663=) c.5178T= (p.Phe1726=) c.4971T= (p.Phe1657=) c.1674T= (p.Phe558=) c.5175T= (p.Phe1725=) c.1499T= c.1686T= (p.Phe562=) c.*4895T= (n.*4895T=) c.1425T= (p.Phe475=) c.42T= (p.Phe14=) c.585T= (p.Phe195=) c.-98-13724T= (n.-98-13724T=) n.5248T= n.5289T= | |
17 | g.43063914A>C | CA10591304 | BRCA1 | c.5109T>G (p.Phe1703Leu) c.5112T>G (p.Phe1704Leu) c.4986T>G (p.Phe1662Leu) c.5106T>G (p.Phe1702Leu) c.5034T>G (p.Phe1678Leu) c.1800T>G (p.Phe600Leu) c.1662T>G (p.Phe554Leu) c.4224T>G (p.Phe1408Leu) c.4989T>G (p.Phe1663Leu) c.5178T>G (p.Phe1726Leu) c.4971T>G (p.Phe1657Leu) c.1674T>G (p.Phe558Leu) c.5175T>G (p.Phe1725Leu) c.1499T>G c.1686T>G (p.Phe562Leu) c.*4895T>G (n.*4895T>G) c.1425T>G (p.Phe475Leu) c.42T>G (p.Phe14Leu) c.585T>G (p.Phe195Leu) c.-98-13724T>G (n.-98-13724T>G) n.5248T>G n.5289T>G | ClinVar dbSNP |
17 | g.43063914A>G | CA500146201 | BRCA1 | c.5109T>C (p.Phe1703=) c.5112T>C (p.Phe1704=) c.4986T>C (p.Phe1662=) c.5106T>C (p.Phe1702=) c.5034T>C (p.Phe1678=) c.1800T>C (p.Phe600=) c.1662T>C (p.Phe554=) c.4224T>C (p.Phe1408=) c.4989T>C (p.Phe1663=) c.5178T>C (p.Phe1726=) c.4971T>C (p.Phe1657=) c.1674T>C (p.Phe558=) c.5175T>C (p.Phe1725=) c.1499T>C c.1686T>C (p.Phe562=) c.*4895T>C (n.*4895T>C) c.1425T>C (p.Phe475=) c.42T>C (p.Phe14=) c.585T>C (p.Phe195=) c.-98-13724T>C (n.-98-13724T>C) n.5248T>C n.5289T>C | ClinVar dbSNP gnomAD v4 |
17 | g.43063914A>T | CA10591305 | BRCA1 | c.5109T>A (p.Phe1703Leu) c.5112T>A (p.Phe1704Leu) c.4986T>A (p.Phe1662Leu) c.5106T>A (p.Phe1702Leu) c.5034T>A (p.Phe1678Leu) c.1800T>A (p.Phe600Leu) c.1662T>A (p.Phe554Leu) c.4224T>A (p.Phe1408Leu) c.4989T>A (p.Phe1663Leu) c.5178T>A (p.Phe1726Leu) c.4971T>A (p.Phe1657Leu) c.1674T>A (p.Phe558Leu) c.5175T>A (p.Phe1725Leu) c.1499T>A c.1686T>A (p.Phe562Leu) c.*4895T>A (n.*4895T>A) c.1425T>A (p.Phe475Leu) c.42T>A (p.Phe14Leu) c.585T>A (p.Phe195Leu) c.-98-13724T>A (n.-98-13724T>A) n.5248T>A n.5289T>A | ClinVar dbSNP |
17 | g.43063917del | CA003245 | BRCA1 | c.5109del (p.Leu1704Ter) c.5112del (p.Leu1705Ter) c.4986del (p.Leu1663Ter) c.5106del (p.Leu1703Ter) c.5034del (p.Leu1679Ter) c.1800del (p.Leu601Ter) c.1662del (p.Leu555Ter) c.4224del (p.Leu1409Ter) c.4989del (p.Leu1664Ter) c.5178del (p.Leu1727Ter) c.4971del (p.Leu1658Ter) c.1674del (p.Leu559Ter) c.5175del (p.Leu1726Ter) c.1499del c.1686del (p.Leu563Ter) c.*4895del (n.*4895del) c.1425del (p.Leu476Ter) c.42del (p.Leu15Ter) c.585del (p.Leu196Ter) c.-98-13724del (n.-98-13724del) n.5248del n.5289del | ClinVar dbSNP |
17 | g.43063915A= | CA2260769539 | BRCA1 | c.5108T= (p.Phe1703=) c.5111T= (p.Phe1704=) c.4985T= (p.Phe1662=) c.5105T= (p.Phe1702=) c.5033T= (p.Phe1678=) c.1799T= (p.Phe600=) c.1661T= (p.Phe554=) c.4223T= (p.Phe1408=) c.4988T= (p.Phe1663=) c.5177T= (p.Phe1726=) c.4970T= (p.Phe1657=) c.1673T= (p.Phe558=) c.5174T= (p.Phe1725=) c.1498T= c.1685T= (p.Phe562=) c.*4894T= (n.*4894T=) c.1424T= (p.Phe475=) c.41T= (p.Phe14=) c.584T= (p.Phe195=) c.-98-13725T= (n.-98-13725T=) n.5247T= n.5288T= | |
17 | g.43063915A>C | CA10591306 | BRCA1 | c.5108T>G (p.Phe1703Cys) c.5111T>G (p.Phe1704Cys) c.4985T>G (p.Phe1662Cys) c.5105T>G (p.Phe1702Cys) c.5033T>G (p.Phe1678Cys) c.1799T>G (p.Phe600Cys) c.1661T>G (p.Phe554Cys) c.4223T>G (p.Phe1408Cys) c.4988T>G (p.Phe1663Cys) c.5177T>G (p.Phe1726Cys) c.4970T>G (p.Phe1657Cys) c.1673T>G (p.Phe558Cys) c.5174T>G (p.Phe1725Cys) c.1498T>G c.1685T>G (p.Phe562Cys) c.*4894T>G (n.*4894T>G) c.1424T>G (p.Phe475Cys) c.41T>G (p.Phe14Cys) c.584T>G (p.Phe195Cys) c.-98-13725T>G (n.-98-13725T>G) n.5247T>G n.5288T>G | ClinVar dbSNP |
17 | g.43063915A>G | CA10591307 | BRCA1 | c.5108T>C (p.Phe1703Ser) c.5111T>C (p.Phe1704Ser) c.4985T>C (p.Phe1662Ser) c.5105T>C (p.Phe1702Ser) c.5033T>C (p.Phe1678Ser) c.1799T>C (p.Phe600Ser) c.1661T>C (p.Phe554Ser) c.4223T>C (p.Phe1408Ser) c.4988T>C (p.Phe1663Ser) c.5177T>C (p.Phe1726Ser) c.4970T>C (p.Phe1657Ser) c.1673T>C (p.Phe558Ser) c.5174T>C (p.Phe1725Ser) c.1498T>C c.1685T>C (p.Phe562Ser) c.*4894T>C (n.*4894T>C) c.1424T>C (p.Phe475Ser) c.41T>C (p.Phe14Ser) c.584T>C (p.Phe195Ser) c.-98-13725T>C (n.-98-13725T>C) n.5247T>C n.5288T>C | ClinVar dbSNP |
17 | g.43063915A>T | CA10591308 | BRCA1 | c.5108T>A (p.Phe1703Tyr) c.5111T>A (p.Phe1704Tyr) c.4985T>A (p.Phe1662Tyr) c.5105T>A (p.Phe1702Tyr) c.5033T>A (p.Phe1678Tyr) c.1799T>A (p.Phe600Tyr) c.1661T>A (p.Phe554Tyr) c.4223T>A (p.Phe1408Tyr) c.4988T>A (p.Phe1663Tyr) c.5177T>A (p.Phe1726Tyr) c.4970T>A (p.Phe1657Tyr) c.1673T>A (p.Phe558Tyr) c.5174T>A (p.Phe1725Tyr) c.1498T>A c.1685T>A (p.Phe562Tyr) c.*4894T>A (n.*4894T>A) c.1424T>A (p.Phe475Tyr) c.41T>A (p.Phe14Tyr) c.584T>A (p.Phe195Tyr) c.-98-13725T>A (n.-98-13725T>A) n.5247T>A n.5288T>A | ClinVar dbSNP |
17 | g.43063916A= | CA2260769540 | BRCA1 | c.5107T= (p.Phe1703=) c.5110T= (p.Phe1704=) c.4984T= (p.Phe1662=) c.5104T= (p.Phe1702=) c.5032T= (p.Phe1678=) c.1798T= (p.Phe600=) c.1660T= (p.Phe554=) c.4222T= (p.Phe1408=) c.4987T= (p.Phe1663=) c.5176T= (p.Phe1726=) c.4969T= (p.Phe1657=) c.1672T= (p.Phe558=) c.5173T= (p.Phe1725=) c.1497T= c.1684T= (p.Phe562=) c.*4893T= (n.*4893T=) c.1423T= (p.Phe475=) c.40T= (p.Phe14=) c.583T= (p.Phe195=) c.-98-13726T= (n.-98-13726T=) n.5246T= n.5287T= | |
17 | g.43063916A>C | CA10591309 | BRCA1 | c.5107T>G (p.Phe1703Val) c.5110T>G (p.Phe1704Val) c.4984T>G (p.Phe1662Val) c.5104T>G (p.Phe1702Val) c.5032T>G (p.Phe1678Val) c.1798T>G (p.Phe600Val) c.1660T>G (p.Phe554Val) c.4222T>G (p.Phe1408Val) c.4987T>G (p.Phe1663Val) c.5176T>G (p.Phe1726Val) c.4969T>G (p.Phe1657Val) c.1672T>G (p.Phe558Val) c.5173T>G (p.Phe1725Val) c.1497T>G c.1684T>G (p.Phe562Val) c.*4893T>G (n.*4893T>G) c.1423T>G (p.Phe475Val) c.40T>G (p.Phe14Val) c.583T>G (p.Phe195Val) c.-98-13726T>G (n.-98-13726T>G) n.5246T>G n.5287T>G | ClinVar dbSNP |
17 | g.43063916A>G | CA10591310 | BRCA1 | c.5107T>C (p.Phe1703Leu) c.5110T>C (p.Phe1704Leu) c.4984T>C (p.Phe1662Leu) c.5104T>C (p.Phe1702Leu) c.5032T>C (p.Phe1678Leu) c.1798T>C (p.Phe600Leu) c.1660T>C (p.Phe554Leu) c.4222T>C (p.Phe1408Leu) c.4987T>C (p.Phe1663Leu) c.5176T>C (p.Phe1726Leu) c.4969T>C (p.Phe1657Leu) c.1672T>C (p.Phe558Leu) c.5173T>C (p.Phe1725Leu) c.1497T>C c.1684T>C (p.Phe562Leu) c.*4893T>C (n.*4893T>C) c.1423T>C (p.Phe475Leu) c.40T>C (p.Phe14Leu) c.583T>C (p.Phe195Leu) c.-98-13726T>C (n.-98-13726T>C) n.5246T>C n.5287T>C | ClinVar dbSNP gnomAD v4 |
17 | g.43063916A>T | CA10591311 | BRCA1 | c.5107T>A (p.Phe1703Ile) c.5110T>A (p.Phe1704Ile) c.4984T>A (p.Phe1662Ile) c.5104T>A (p.Phe1702Ile) c.5032T>A (p.Phe1678Ile) c.1798T>A (p.Phe600Ile) c.1660T>A (p.Phe554Ile) c.4222T>A (p.Phe1408Ile) c.4987T>A (p.Phe1663Ile) c.5176T>A (p.Phe1726Ile) c.4969T>A (p.Phe1657Ile) c.1672T>A (p.Phe558Ile) c.5173T>A (p.Phe1725Ile) c.1497T>A c.1684T>A (p.Phe562Ile) c.*4893T>A (n.*4893T>A) c.1423T>A (p.Phe475Ile) c.40T>A (p.Phe14Ile) c.583T>A (p.Phe195Ile) c.-98-13726T>A (n.-98-13726T>A) n.5246T>A n.5287T>A | ClinVar dbSNP |
17 | g.43063917A= | CA2260769541 | BRCA1 | c.5106T= (p.Tyr1702=) c.5109T= (p.Tyr1703=) c.4983T= (p.Tyr1661=) c.5103T= (p.Tyr1701=) c.5031T= (p.Tyr1677=) c.1797T= (p.Tyr599=) c.1659T= (p.Tyr553=) c.4221T= (p.Tyr1407=) c.4986T= (p.Tyr1662=) c.5175T= (p.Tyr1725=) c.4968T= (p.Tyr1656=) c.1671T= (p.Tyr557=) c.5172T= (p.Tyr1724=) c.1496T= c.1683T= (p.Tyr561=) c.*4892T= (n.*4892T=) c.1422T= (p.Tyr474=) c.39T= (p.Tyr13=) c.582T= (p.Tyr194=) c.-98-13727T= (n.-98-13727T=) n.5245T= n.5286T= | |
17 | g.43063917A>C | CA003244 | BRCA1 | c.5106T>G (p.Tyr1702Ter) c.5109T>G (p.Tyr1703Ter) c.4983T>G (p.Tyr1661Ter) c.5103T>G (p.Tyr1701Ter) c.5031T>G (p.Tyr1677Ter) c.1797T>G (p.Tyr599Ter) c.1659T>G (p.Tyr553Ter) c.4221T>G (p.Tyr1407Ter) c.4986T>G (p.Tyr1662Ter) c.5175T>G (p.Tyr1725Ter) c.4968T>G (p.Tyr1656Ter) c.1671T>G (p.Tyr557Ter) c.5172T>G (p.Tyr1724Ter) c.1496T>G c.1683T>G (p.Tyr561Ter) c.*4892T>G (n.*4892T>G) c.1422T>G (p.Tyr474Ter) c.39T>G (p.Tyr13Ter) c.582T>G (p.Tyr194Ter) c.-98-13727T>G (n.-98-13727T>G) n.5245T>G n.5286T>G | ClinVar dbSNP |
17 | g.43063917A>G | CA10583551 | BRCA1 | c.5106T>C (p.Tyr1702=) c.5109T>C (p.Tyr1703=) c.4983T>C (p.Tyr1661=) c.5103T>C (p.Tyr1701=) c.5031T>C (p.Tyr1677=) c.1797T>C (p.Tyr599=) c.1659T>C (p.Tyr553=) c.4221T>C (p.Tyr1407=) c.4986T>C (p.Tyr1662=) c.5175T>C (p.Tyr1725=) c.4968T>C (p.Tyr1656=) c.1671T>C (p.Tyr557=) c.5172T>C (p.Tyr1724=) c.1496T>C c.1683T>C (p.Tyr561=) c.*4892T>C (n.*4892T>C) c.1422T>C (p.Tyr474=) c.39T>C (p.Tyr13=) c.582T>C (p.Tyr194=) c.-98-13727T>C (n.-98-13727T>C) n.5245T>C n.5286T>C | ClinVar dbSNP gnomAD v4 |
17 | g.43063917A>T | CA10591312 | BRCA1 | c.5106T>A (p.Tyr1702Ter) c.5109T>A (p.Tyr1703Ter) c.4983T>A (p.Tyr1661Ter) c.5103T>A (p.Tyr1701Ter) c.5031T>A (p.Tyr1677Ter) c.1797T>A (p.Tyr599Ter) c.1659T>A (p.Tyr553Ter) c.4221T>A (p.Tyr1407Ter) c.4986T>A (p.Tyr1662Ter) c.5175T>A (p.Tyr1725Ter) c.4968T>A (p.Tyr1656Ter) c.1671T>A (p.Tyr557Ter) c.5172T>A (p.Tyr1724Ter) c.1496T>A c.1683T>A (p.Tyr561Ter) c.*4892T>A (n.*4892T>A) c.1422T>A (p.Tyr474Ter) c.39T>A (p.Tyr13Ter) c.582T>A (p.Tyr194Ter) c.-98-13727T>A (n.-98-13727T>A) n.5245T>A n.5286T>A | ClinVar dbSNP |
17 | g.43063918T>A | CA10591313 | BRCA1 | c.5105A>T (p.Tyr1702Phe) c.5108A>T (p.Tyr1703Phe) c.4982A>T (p.Tyr1661Phe) c.5102A>T (p.Tyr1701Phe) c.5030A>T (p.Tyr1677Phe) c.1796A>T (p.Tyr599Phe) c.1658A>T (p.Tyr553Phe) c.4220A>T (p.Tyr1407Phe) c.4985A>T (p.Tyr1662Phe) c.5174A>T (p.Tyr1725Phe) c.4967A>T (p.Tyr1656Phe) c.1670A>T (p.Tyr557Phe) c.5171A>T (p.Tyr1724Phe) c.1495A>T c.1682A>T (p.Tyr561Phe) c.*4891A>T (n.*4891A>T) c.1421A>T (p.Tyr474Phe) c.38A>T (p.Tyr13Phe) c.581A>T (p.Tyr194Phe) c.-98-13728A>T (n.-98-13728A>T) n.5244A>T n.5285A>T | ClinVar dbSNP |
17 | g.43063918T>C | CA10580499 | BRCA1 | c.5105A>G (p.Tyr1702Cys) c.5108A>G (p.Tyr1703Cys) c.4982A>G (p.Tyr1661Cys) c.5102A>G (p.Tyr1701Cys) c.5030A>G (p.Tyr1677Cys) c.1796A>G (p.Tyr599Cys) c.1658A>G (p.Tyr553Cys) c.4220A>G (p.Tyr1407Cys) c.4985A>G (p.Tyr1662Cys) c.5174A>G (p.Tyr1725Cys) c.4967A>G (p.Tyr1656Cys) c.1670A>G (p.Tyr557Cys) c.5171A>G (p.Tyr1724Cys) c.1495A>G c.1682A>G (p.Tyr561Cys) c.*4891A>G (n.*4891A>G) c.1421A>G (p.Tyr474Cys) c.38A>G (p.Tyr13Cys) c.581A>G (p.Tyr194Cys) c.-98-13728A>G (n.-98-13728A>G) n.5244A>G n.5285A>G | ClinVar dbSNP |
17 | g.43063918T>G | CA10591314 | BRCA1 | c.5105A>C (p.Tyr1702Ser) c.5108A>C (p.Tyr1703Ser) c.4982A>C (p.Tyr1661Ser) c.5102A>C (p.Tyr1701Ser) c.5030A>C (p.Tyr1677Ser) c.1796A>C (p.Tyr599Ser) c.1658A>C (p.Tyr553Ser) c.4220A>C (p.Tyr1407Ser) c.4985A>C (p.Tyr1662Ser) c.5174A>C (p.Tyr1725Ser) c.4967A>C (p.Tyr1656Ser) c.1670A>C (p.Tyr557Ser) c.5171A>C (p.Tyr1724Ser) c.1495A>C c.1682A>C (p.Tyr561Ser) c.*4891A>C (n.*4891A>C) c.1421A>C (p.Tyr474Ser) c.38A>C (p.Tyr13Ser) c.581A>C (p.Tyr194Ser) c.-98-13728A>C (n.-98-13728A>C) n.5244A>C n.5285A>C | ClinVar dbSNP |
17 | g.43063918T= | CA2260769542 | BRCA1 | c.5105A= (p.Tyr1702=) c.5108A= (p.Tyr1703=) c.4982A= (p.Tyr1661=) c.5102A= (p.Tyr1701=) c.5030A= (p.Tyr1677=) c.1796A= (p.Tyr599=) c.1658A= (p.Tyr553=) c.4220A= (p.Tyr1407=) c.4985A= (p.Tyr1662=) c.5174A= (p.Tyr1725=) c.4967A= (p.Tyr1656=) c.1670A= (p.Tyr557=) c.5171A= (p.Tyr1724=) c.1495A= c.1682A= (p.Tyr561=) c.*4891A= (n.*4891A=) c.1421A= (p.Tyr474=) c.38A= (p.Tyr13=) c.581A= (p.Tyr194=) c.-98-13728A= (n.-98-13728A=) n.5244A= n.5285A= | |
17 | g.43063919A= | CA2260769543 | BRCA1 | c.5104T= (p.Tyr1702=) c.5107T= (p.Tyr1703=) c.4981T= (p.Tyr1661=) c.5101T= (p.Tyr1701=) c.5029T= (p.Tyr1677=) c.1795T= (p.Tyr599=) c.1657T= (p.Tyr553=) c.4219T= (p.Tyr1407=) c.4984T= (p.Tyr1662=) c.5173T= (p.Tyr1725=) c.4966T= (p.Tyr1656=) c.1669T= (p.Tyr557=) c.5170T= (p.Tyr1724=) c.1494T= c.1681T= (p.Tyr561=) c.*4890T= (n.*4890T=) c.1420T= (p.Tyr474=) c.37T= (p.Tyr13=) c.580T= (p.Tyr194=) c.-98-13729T= (n.-98-13729T=) n.5243T= n.5284T= | |
17 | g.43063919A>C | CA10586112 | BRCA1 | c.5104T>G (p.Tyr1702Asp) c.5107T>G (p.Tyr1703Asp) c.4981T>G (p.Tyr1661Asp) c.5101T>G (p.Tyr1701Asp) c.5029T>G (p.Tyr1677Asp) c.1795T>G (p.Tyr599Asp) c.1657T>G (p.Tyr553Asp) c.4219T>G (p.Tyr1407Asp) c.4984T>G (p.Tyr1662Asp) c.5173T>G (p.Tyr1725Asp) c.4966T>G (p.Tyr1656Asp) c.1669T>G (p.Tyr557Asp) c.5170T>G (p.Tyr1724Asp) c.1494T>G c.1681T>G (p.Tyr561Asp) c.*4890T>G (n.*4890T>G) c.1420T>G (p.Tyr474Asp) c.37T>G (p.Tyr13Asp) c.580T>G (p.Tyr194Asp) c.-98-13729T>G (n.-98-13729T>G) n.5243T>G n.5284T>G | ClinVar dbSNP |
17 | g.43063919A>G | CA337043 | BRCA1 | c.5104T>C (p.Tyr1702His) c.5107T>C (p.Tyr1703His) c.4981T>C (p.Tyr1661His) c.5101T>C (p.Tyr1701His) c.5029T>C (p.Tyr1677His) c.1795T>C (p.Tyr599His) c.1657T>C (p.Tyr553His) c.4219T>C (p.Tyr1407His) c.4984T>C (p.Tyr1662His) c.5173T>C (p.Tyr1725His) c.4966T>C (p.Tyr1656His) c.1669T>C (p.Tyr557His) c.5170T>C (p.Tyr1724His) c.1494T>C c.1681T>C (p.Tyr561His) c.*4890T>C (n.*4890T>C) c.1420T>C (p.Tyr474His) c.37T>C (p.Tyr13His) c.580T>C (p.Tyr194His) c.-98-13729T>C (n.-98-13729T>C) n.5243T>C n.5284T>C | ClinVar dbSNP |
17 | g.43063919A>T | CA10591315 | BRCA1 | c.5104T>A (p.Tyr1702Asn) c.5107T>A (p.Tyr1703Asn) c.4981T>A (p.Tyr1661Asn) c.5101T>A (p.Tyr1701Asn) c.5029T>A (p.Tyr1677Asn) c.1795T>A (p.Tyr599Asn) c.1657T>A (p.Tyr553Asn) c.4219T>A (p.Tyr1407Asn) c.4984T>A (p.Tyr1662Asn) c.5173T>A (p.Tyr1725Asn) c.4966T>A (p.Tyr1656Asn) c.1669T>A (p.Tyr557Asn) c.5170T>A (p.Tyr1724Asn) c.1494T>A c.1681T>A (p.Tyr561Asn) c.*4890T>A (n.*4890T>A) c.1420T>A (p.Tyr474Asn) c.37T>A (p.Tyr13Asn) c.580T>A (p.Tyr194Asn) c.-98-13729T>A (n.-98-13729T>A) n.5243T>A n.5284T>A | ClinVar dbSNP |
17 | g.43063919_43063920delinsAT | CA2260769544 | BRCA1 | c.5103_5104delinsAT (p.Lys1701=) c.5106_5107delinsAT (p.Lys1702=) c.4980_4981delinsAT (p.Lys1660=) c.5100_5101delinsAT (p.Lys1700=) c.5028_5029delinsAT (p.Lys1676=) c.1794_1795delinsAT (p.Lys598=) c.1656_1657delinsAT (p.Lys552=) c.4218_4219delinsAT (p.Lys1406=) c.4983_4984delinsAT (p.Lys1661=) c.5172_5173delinsAT (p.Lys1724=) c.4965_4966delinsAT (p.Lys1655=) c.1668_1669delinsAT (p.Lys556=) c.5169_5170delinsAT (p.Lys1723=) c.1493_1494delinsAT c.1680_1681delinsAT (p.Lys560=) c.*4889_*4890delinsAT (n.*4889_*4890delinsAT) c.1419_1420delinsAT (p.Lys473=) c.36_37delinsAT (p.Lys12=) c.579_580delinsAT (p.Lys193=) c.-98-13730_-98-13729delinsAT (n.-98-13730_-98-13729delinsAT) n.5242_5243delinsAT n.5283_5284delinsAT | |
17 | g.43063920T>A | CA10591316 | BRCA1 | c.5103A>T (p.Lys1701Asn) c.5106A>T (p.Lys1702Asn) c.4980A>T (p.Lys1660Asn) c.5100A>T (p.Lys1700Asn) c.5028A>T (p.Lys1676Asn) c.1794A>T (p.Lys598Asn) c.1656A>T (p.Lys552Asn) c.4218A>T (p.Lys1406Asn) c.4983A>T (p.Lys1661Asn) c.5172A>T (p.Lys1724Asn) c.4965A>T (p.Lys1655Asn) c.1668A>T (p.Lys556Asn) c.5169A>T (p.Lys1723Asn) c.1493A>T c.1680A>T (p.Lys560Asn) c.*4889A>T (n.*4889A>T) c.1419A>T (p.Lys473Asn) c.36A>T (p.Lys12Asn) c.579A>T (p.Lys193Asn) c.-98-13730A>T (n.-98-13730A>T) n.5242A>T n.5283A>T | ClinVar dbSNP |
17 | g.43063920T>C | CA16615748 | BRCA1 | c.5103A>G (p.Lys1701=) c.5106A>G (p.Lys1702=) c.4980A>G (p.Lys1660=) c.5100A>G (p.Lys1700=) c.5028A>G (p.Lys1676=) c.1794A>G (p.Lys598=) c.1656A>G (p.Lys552=) c.4218A>G (p.Lys1406=) c.4983A>G (p.Lys1661=) c.5172A>G (p.Lys1724=) c.4965A>G (p.Lys1655=) c.1668A>G (p.Lys556=) c.5169A>G (p.Lys1723=) c.1493A>G c.1680A>G (p.Lys560=) c.*4889A>G (n.*4889A>G) c.1419A>G (p.Lys473=) c.36A>G (p.Lys12=) c.579A>G (p.Lys193=) c.-98-13730A>G (n.-98-13730A>G) n.5242A>G n.5283A>G | ClinVar dbSNP gnomAD v4 |
17 | g.43063920T>G | CA10591317 | BRCA1 | c.5103A>C (p.Lys1701Asn) c.5106A>C (p.Lys1702Asn) c.4980A>C (p.Lys1660Asn) c.5100A>C (p.Lys1700Asn) c.5028A>C (p.Lys1676Asn) c.1794A>C (p.Lys598Asn) c.1656A>C (p.Lys552Asn) c.4218A>C (p.Lys1406Asn) c.4983A>C (p.Lys1661Asn) c.5172A>C (p.Lys1724Asn) c.4965A>C (p.Lys1655Asn) c.1668A>C (p.Lys556Asn) c.5169A>C (p.Lys1723Asn) c.1493A>C c.1680A>C (p.Lys560Asn) c.*4889A>C (n.*4889A>C) c.1419A>C (p.Lys473Asn) c.36A>C (p.Lys12Asn) c.579A>C (p.Lys193Asn) c.-98-13730A>C (n.-98-13730A>C) n.5242A>C n.5283A>C | ClinVar dbSNP |
17 | g.43063920T= | CA2260769545 | BRCA1 | c.5103A= (p.Lys1701=) c.5106A= (p.Lys1702=) c.4980A= (p.Lys1660=) c.5100A= (p.Lys1700=) c.5028A= (p.Lys1676=) c.1794A= (p.Lys598=) c.1656A= (p.Lys552=) c.4218A= (p.Lys1406=) c.4983A= (p.Lys1661=) c.5172A= (p.Lys1724=) c.4965A= (p.Lys1655=) c.1668A= (p.Lys556=) c.5169A= (p.Lys1723=) c.1493A= c.1680A= (p.Lys560=) c.*4889A= (n.*4889A=) c.1419A= (p.Lys473=) c.36A= (p.Lys12=) c.579A= (p.Lys193=) c.-98-13730A= (n.-98-13730A=) n.5242A= n.5283A= | |
17 | g.43063922del | CA003243 | BRCA1 | c.5103del (p.Lys1701AsnfsTer4) c.5106del (p.Lys1702AsnfsTer4) c.4980del (p.Lys1660AsnfsTer4) c.5100del (p.Lys1700AsnfsTer4) c.5028del (p.Lys1676AsnfsTer4) c.1794del (p.Lys598AsnfsTer4) c.1656del (p.Lys552AsnfsTer4) c.4218del (p.Lys1406AsnfsTer4) c.4983del (p.Lys1661AsnfsTer4) c.5172del (p.Lys1724AsnfsTer4) c.4965del (p.Lys1655AsnfsTer4) c.1668del (p.Lys556AsnfsTer4) c.5169del (p.Lys1723AsnfsTer4) c.1493del c.1680del (p.Lys560AsnfsTer4) c.*4889del (n.*4889del) c.1419del (p.Lys473AsnfsTer4) c.36del (p.Lys12AsnfsTer4) c.579del (p.Lys193AsnfsTer4) c.-98-13730del (n.-98-13730del) n.5242del n.5283del | ClinVar dbSNP |
17 | g.43063921T>A | CA10591318 | BRCA1 | c.5102A>T (p.Lys1701Ile) c.5105A>T (p.Lys1702Ile) c.4979A>T (p.Lys1660Ile) c.5099A>T (p.Lys1700Ile) c.5027A>T (p.Lys1676Ile) c.1793A>T (p.Lys598Ile) c.1655A>T (p.Lys552Ile) c.4217A>T (p.Lys1406Ile) c.4982A>T (p.Lys1661Ile) c.5171A>T (p.Lys1724Ile) c.4964A>T (p.Lys1655Ile) c.1667A>T (p.Lys556Ile) c.5168A>T (p.Lys1723Ile) c.1492A>T c.1679A>T (p.Lys560Ile) c.*4888A>T (n.*4888A>T) c.1418A>T (p.Lys473Ile) c.35A>T (p.Lys12Ile) c.578A>T (p.Lys193Ile) c.-98-13731A>T (n.-98-13731A>T) n.5241A>T n.5282A>T | ClinVar dbSNP |
17 | g.43063921T>C | CA10591319 | BRCA1 | c.5102A>G (p.Lys1701Arg) c.5105A>G (p.Lys1702Arg) c.4979A>G (p.Lys1660Arg) c.5099A>G (p.Lys1700Arg) c.5027A>G (p.Lys1676Arg) c.1793A>G (p.Lys598Arg) c.1655A>G (p.Lys552Arg) c.4217A>G (p.Lys1406Arg) c.4982A>G (p.Lys1661Arg) c.5171A>G (p.Lys1724Arg) c.4964A>G (p.Lys1655Arg) c.1667A>G (p.Lys556Arg) c.5168A>G (p.Lys1723Arg) c.1492A>G c.1679A>G (p.Lys560Arg) c.*4888A>G (n.*4888A>G) c.1418A>G (p.Lys473Arg) c.35A>G (p.Lys12Arg) c.578A>G (p.Lys193Arg) c.-98-13731A>G (n.-98-13731A>G) n.5241A>G n.5282A>G | ClinVar dbSNP |
17 | g.43063921T>G | CA10591320 | BRCA1 | c.5102A>C (p.Lys1701Thr) c.5105A>C (p.Lys1702Thr) c.4979A>C (p.Lys1660Thr) c.5099A>C (p.Lys1700Thr) c.5027A>C (p.Lys1676Thr) c.1793A>C (p.Lys598Thr) c.1655A>C (p.Lys552Thr) c.4217A>C (p.Lys1406Thr) c.4982A>C (p.Lys1661Thr) c.5171A>C (p.Lys1724Thr) c.4964A>C (p.Lys1655Thr) c.1667A>C (p.Lys556Thr) c.5168A>C (p.Lys1723Thr) c.1492A>C c.1679A>C (p.Lys560Thr) c.*4888A>C (n.*4888A>C) c.1418A>C (p.Lys473Thr) c.35A>C (p.Lys12Thr) c.578A>C (p.Lys193Thr) c.-98-13731A>C (n.-98-13731A>C) n.5241A>C n.5282A>C | ClinVar dbSNP |
17 | g.43063921T= | CA2260769546 | BRCA1 | c.5102A= (p.Lys1701=) c.5105A= (p.Lys1702=) c.4979A= (p.Lys1660=) c.5099A= (p.Lys1700=) c.5027A= (p.Lys1676=) c.1793A= (p.Lys598=) c.1655A= (p.Lys552=) c.4217A= (p.Lys1406=) c.4982A= (p.Lys1661=) c.5171A= (p.Lys1724=) c.4964A= (p.Lys1655=) c.1667A= (p.Lys556=) c.5168A= (p.Lys1723=) c.1492A= c.1679A= (p.Lys560=) c.*4888A= (n.*4888A=) c.1418A= (p.Lys473=) c.35A= (p.Lys12=) c.578A= (p.Lys193=) c.-98-13731A= (n.-98-13731A=) n.5241A= n.5282A= | |
17 | g.43063922T>A | CA10591321 | BRCA1 | c.5101A>T (p.Lys1701Ter) c.5104A>T (p.Lys1702Ter) c.4978A>T (p.Lys1660Ter) c.5098A>T (p.Lys1700Ter) c.5026A>T (p.Lys1676Ter) c.1792A>T (p.Lys598Ter) c.1654A>T (p.Lys552Ter) c.4216A>T (p.Lys1406Ter) c.4981A>T (p.Lys1661Ter) c.5170A>T (p.Lys1724Ter) c.4963A>T (p.Lys1655Ter) c.1666A>T (p.Lys556Ter) c.5167A>T (p.Lys1723Ter) c.1491A>T c.1678A>T (p.Lys560Ter) c.*4887A>T (n.*4887A>T) c.1417A>T (p.Lys473Ter) c.34A>T (p.Lys12Ter) c.577A>T (p.Lys193Ter) c.-98-13732A>T (n.-98-13732A>T) n.5240A>T n.5281A>T | ClinVar dbSNP |
17 | g.43063922T>C | CA10591322 | BRCA1 | c.5101A>G (p.Lys1701Glu) c.5104A>G (p.Lys1702Glu) c.4978A>G (p.Lys1660Glu) c.5098A>G (p.Lys1700Glu) c.5026A>G (p.Lys1676Glu) c.1792A>G (p.Lys598Glu) c.1654A>G (p.Lys552Glu) c.4216A>G (p.Lys1406Glu) c.4981A>G (p.Lys1661Glu) c.5170A>G (p.Lys1724Glu) c.4963A>G (p.Lys1655Glu) c.1666A>G (p.Lys556Glu) c.5167A>G (p.Lys1723Glu) c.1491A>G c.1678A>G (p.Lys560Glu) c.*4887A>G (n.*4887A>G) c.1417A>G (p.Lys473Glu) c.34A>G (p.Lys12Glu) c.577A>G (p.Lys193Glu) c.-98-13732A>G (n.-98-13732A>G) n.5240A>G n.5281A>G | ClinVar dbSNP |
17 | g.43063922T>G | CA10591323 | BRCA1 | c.5101A>C (p.Lys1701Gln) c.5104A>C (p.Lys1702Gln) c.4978A>C (p.Lys1660Gln) c.5098A>C (p.Lys1700Gln) c.5026A>C (p.Lys1676Gln) c.1792A>C (p.Lys598Gln) c.1654A>C (p.Lys552Gln) c.4216A>C (p.Lys1406Gln) c.4981A>C (p.Lys1661Gln) c.5170A>C (p.Lys1724Gln) c.4963A>C (p.Lys1655Gln) c.1666A>C (p.Lys556Gln) c.5167A>C (p.Lys1723Gln) c.1491A>C c.1678A>C (p.Lys560Gln) c.*4887A>C (n.*4887A>C) c.1417A>C (p.Lys473Gln) c.34A>C (p.Lys12Gln) c.577A>C (p.Lys193Gln) c.-98-13732A>C (n.-98-13732A>C) n.5240A>C n.5281A>C | ClinVar dbSNP |
17 | g.43063922T= | CA2260769548 | BRCA1 | c.5101A= (p.Lys1701=) c.5104A= (p.Lys1702=) c.4978A= (p.Lys1660=) c.5098A= (p.Lys1700=) c.5026A= (p.Lys1676=) c.1792A= (p.Lys598=) c.1654A= (p.Lys552=) c.4216A= (p.Lys1406=) c.4981A= (p.Lys1661=) c.5170A= (p.Lys1724=) c.4963A= (p.Lys1655=) c.1666A= (p.Lys556=) c.5167A= (p.Lys1723=) c.1491A= c.1678A= (p.Lys560=) c.*4887A= (n.*4887A=) c.1417A= (p.Lys473=) c.34A= (p.Lys12=) c.577A= (p.Lys193=) c.-98-13732A= (n.-98-13732A=) n.5240A= n.5281A= | |
17 | g.43063922_43063924delinsTCA | CA2260769547 | BRCA1 | c.5099_5101delinsTGA (p.Leu1700=) c.5102_5104delinsTGA (p.Leu1701=) c.4976_4978delinsTGA (p.Leu1659=) c.5096_5098delinsTGA (p.Leu1699=) c.5024_5026delinsTGA (p.Leu1675=) c.1790_1792delinsTGA (p.Leu597=) c.1652_1654delinsTGA (p.Leu551=) c.4214_4216delinsTGA (p.Leu1405=) c.4979_4981delinsTGA (p.Leu1660=) c.5168_5170delinsTGA (p.Leu1723=) c.4961_4963delinsTGA (p.Leu1654=) c.1664_1666delinsTGA (p.Leu555=) c.5165_5167delinsTGA (p.Leu1722=) c.1489_1491delinsTGA c.1676_1678delinsTGA (p.Leu559=) c.*4885_*4887delinsTGA (n.*4885_*4887delinsTGA) c.1415_1417delinsTGA (p.Leu472=) c.32_34delinsTGA (p.Leu11=) c.575_577delinsTGA (p.Leu192=) c.-98-13734_-98-13732delinsTGA (n.-98-13734_-98-13732delinsTGA) n.5238_5240delinsTGA n.5279_5281delinsTGA | |
17 | g.43063923C>A | CA500146203 | BRCA1 | c.5100G>T (p.Leu1700=) c.5103G>T (p.Leu1701=) c.4977G>T (p.Leu1659=) c.5097G>T (p.Leu1699=) c.5025G>T (p.Leu1675=) c.1791G>T (p.Leu597=) c.1653G>T (p.Leu551=) c.4215G>T (p.Leu1405=) c.4980G>T (p.Leu1660=) c.5169G>T (p.Leu1723=) c.4962G>T (p.Leu1654=) c.1665G>T (p.Leu555=) c.5166G>T (p.Leu1722=) c.1490G>T c.1677G>T (p.Leu559=) c.*4886G>T (n.*4886G>T) c.1416G>T (p.Leu472=) c.33G>T (p.Leu11=) c.576G>T (p.Leu192=) c.-98-13733G>T (n.-98-13733G>T) n.5239G>T n.5280G>T | ClinVar dbSNP |
17 | g.43063923C= | CA2260769549 | BRCA1 | c.5100G= (p.Leu1700=) c.5103G= (p.Leu1701=) c.4977G= (p.Leu1659=) c.5097G= (p.Leu1699=) c.5025G= (p.Leu1675=) c.1791G= (p.Leu597=) c.1653G= (p.Leu551=) c.4215G= (p.Leu1405=) c.4980G= (p.Leu1660=) c.5169G= (p.Leu1723=) c.4962G= (p.Leu1654=) c.1665G= (p.Leu555=) c.5166G= (p.Leu1722=) c.1490G= c.1677G= (p.Leu559=) c.*4886G= (n.*4886G=) c.1416G= (p.Leu472=) c.33G= (p.Leu11=) c.576G= (p.Leu192=) c.-98-13733G= (n.-98-13733G=) n.5239G= n.5280G= | |
17 | g.43063923C>G | CA500146204 | BRCA1 | c.5100G>C (p.Leu1700=) c.5103G>C (p.Leu1701=) c.4977G>C (p.Leu1659=) c.5097G>C (p.Leu1699=) c.5025G>C (p.Leu1675=) c.1791G>C (p.Leu597=) c.1653G>C (p.Leu551=) c.4215G>C (p.Leu1405=) c.4980G>C (p.Leu1660=) c.5169G>C (p.Leu1723=) c.4962G>C (p.Leu1654=) c.1665G>C (p.Leu555=) c.5166G>C (p.Leu1722=) c.1490G>C c.1677G>C (p.Leu559=) c.*4886G>C (n.*4886G>C) c.1416G>C (p.Leu472=) c.33G>C (p.Leu11=) c.576G>C (p.Leu192=) c.-98-13733G>C (n.-98-13733G>C) n.5239G>C n.5280G>C | ClinVar dbSNP |
17 | g.43063923C>T | CA16615656 | BRCA1 | c.5100G>A (p.Leu1700=) c.5103G>A (p.Leu1701=) c.4977G>A (p.Leu1659=) c.5097G>A (p.Leu1699=) c.5025G>A (p.Leu1675=) c.1791G>A (p.Leu597=) c.1653G>A (p.Leu551=) c.4215G>A (p.Leu1405=) c.4980G>A (p.Leu1660=) c.5169G>A (p.Leu1723=) c.4962G>A (p.Leu1654=) c.1665G>A (p.Leu555=) c.5166G>A (p.Leu1722=) c.1490G>A c.1677G>A (p.Leu559=) c.*4886G>A (n.*4886G>A) c.1416G>A (p.Leu472=) c.33G>A (p.Leu11=) c.576G>A (p.Leu192=) c.-98-13733G>A (n.-98-13733G>A) n.5239G>A n.5280G>A | ClinVar dbSNP gnomAD v4 |
17 | g.43063923_43063924del | CA003242 | BRCA1 | c.5099_5100del (p.Leu1700GlnfsTer14) c.5102_5103del (p.Leu1701GlnfsTer14) c.4976_4977del (p.Leu1659GlnfsTer14) c.5096_5097del (p.Leu1699GlnfsTer14) c.5024_5025del (p.Leu1675GlnfsTer14) c.1790_1791del (p.Leu597GlnfsTer14) c.1652_1653del (p.Leu551GlnfsTer14) c.4214_4215del (p.Leu1405GlnfsTer14) c.4979_4980del (p.Leu1660GlnfsTer14) c.5168_5169del (p.Leu1723GlnfsTer14) c.4961_4962del (p.Leu1654GlnfsTer14) c.1664_1665del (p.Leu555GlnfsTer14) c.5165_5166del (p.Leu1722GlnfsTer14) c.1489_1490del c.1676_1677del (p.Leu559GlnfsTer14) c.*4885_*4886del (n.*4885_*4886del) c.1415_1416del (p.Leu472GlnfsTer14) c.32_33del (p.Leu11GlnfsTer14) c.575_576del (p.Leu192GlnfsTer14) c.-98-13734_-98-13733del (n.-98-13734_-98-13733del) n.5238_5239del n.5279_5280del | ClinVar dbSNP ExAC |
17 | g.43063923_43063924delinsCA | CA2260769550 | BRCA1 | c.5099_5100delinsTG (p.Leu1700=) c.5102_5103delinsTG (p.Leu1701=) c.4976_4977delinsTG (p.Leu1659=) c.5096_5097delinsTG (p.Leu1699=) c.5024_5025delinsTG (p.Leu1675=) c.1790_1791delinsTG (p.Leu597=) c.1652_1653delinsTG (p.Leu551=) c.4214_4215delinsTG (p.Leu1405=) c.4979_4980delinsTG (p.Leu1660=) c.5168_5169delinsTG (p.Leu1723=) c.4961_4962delinsTG (p.Leu1654=) c.1664_1665delinsTG (p.Leu555=) c.5165_5166delinsTG (p.Leu1722=) c.1489_1490delinsTG c.1676_1677delinsTG (p.Leu559=) c.*4885_*4886delinsTG (n.*4885_*4886delinsTG) c.1415_1416delinsTG (p.Leu472=) c.32_33delinsTG (p.Leu11=) c.575_576delinsTG (p.Leu192=) c.-98-13734_-98-13733delinsTG (n.-98-13734_-98-13733delinsTG) n.5238_5239delinsTG n.5279_5280delinsTG | |
17 | g.43063924del | CA658824722 | BRCA1 | c.5099del (p.Leu1700ArgfsTer5) c.5102del (p.Leu1701ArgfsTer5) c.4976del (p.Leu1659ArgfsTer5) c.5096del (p.Leu1699ArgfsTer5) c.5024del (p.Leu1675ArgfsTer5) c.1790del (p.Leu597ArgfsTer5) c.1652del (p.Leu551ArgfsTer5) c.4214del (p.Leu1405ArgfsTer5) c.4979del (p.Leu1660ArgfsTer5) c.5168del (p.Leu1723ArgfsTer5) c.4961del (p.Leu1654ArgfsTer5) c.1664del (p.Leu555ArgfsTer5) c.5165del (p.Leu1722ArgfsTer5) c.1489del c.1676del (p.Leu559ArgfsTer5) c.*4885del (n.*4885del) c.1415del (p.Leu472ArgfsTer5) c.32del (p.Leu11ArgfsTer5) c.575del (p.Leu192ArgfsTer5) c.-98-13734del (n.-98-13734del) n.5238del n.5279del | ClinVar dbSNP |
17 | g.43063924A= | CA2260769551 | BRCA1 | c.5099T= (p.Leu1700=) c.5102T= (p.Leu1701=) c.4976T= (p.Leu1659=) c.5096T= (p.Leu1699=) c.5024T= (p.Leu1675=) c.1790T= (p.Leu597=) c.1652T= (p.Leu551=) c.4214T= (p.Leu1405=) c.4979T= (p.Leu1660=) c.5168T= (p.Leu1723=) c.4961T= (p.Leu1654=) c.1664T= (p.Leu555=) c.5165T= (p.Leu1722=) c.1489T= c.1676T= (p.Leu559=) c.*4885T= (n.*4885T=) c.1415T= (p.Leu472=) c.32T= (p.Leu11=) c.575T= (p.Leu192=) c.-98-13734T= (n.-98-13734T=) n.5238T= n.5279T= | |
17 | g.43063924A>C | CA10591324 | BRCA1 | c.5099T>G (p.Leu1700Arg) c.5102T>G (p.Leu1701Arg) c.4976T>G (p.Leu1659Arg) c.5096T>G (p.Leu1699Arg) c.5024T>G (p.Leu1675Arg) c.1790T>G (p.Leu597Arg) c.1652T>G (p.Leu551Arg) c.4214T>G (p.Leu1405Arg) c.4979T>G (p.Leu1660Arg) c.5168T>G (p.Leu1723Arg) c.4961T>G (p.Leu1654Arg) c.1664T>G (p.Leu555Arg) c.5165T>G (p.Leu1722Arg) c.1489T>G c.1676T>G (p.Leu559Arg) c.*4885T>G (n.*4885T>G) c.1415T>G (p.Leu472Arg) c.32T>G (p.Leu11Arg) c.575T>G (p.Leu192Arg) c.-98-13734T>G (n.-98-13734T>G) n.5238T>G n.5279T>G | ClinVar dbSNP |
17 | g.43063924A>G | CA10591325 | BRCA1 | c.5099T>C (p.Leu1700Pro) c.5102T>C (p.Leu1701Pro) c.4976T>C (p.Leu1659Pro) c.5096T>C (p.Leu1699Pro) c.5024T>C (p.Leu1675Pro) c.1790T>C (p.Leu597Pro) c.1652T>C (p.Leu551Pro) c.4214T>C (p.Leu1405Pro) c.4979T>C (p.Leu1660Pro) c.5168T>C (p.Leu1723Pro) c.4961T>C (p.Leu1654Pro) c.1664T>C (p.Leu555Pro) c.5165T>C (p.Leu1722Pro) c.1489T>C c.1676T>C (p.Leu559Pro) c.*4885T>C (n.*4885T>C) c.1415T>C (p.Leu472Pro) c.32T>C (p.Leu11Pro) c.575T>C (p.Leu192Pro) c.-98-13734T>C (n.-98-13734T>C) n.5238T>C n.5279T>C | ClinVar dbSNP |
17 | g.43063924A>T | CA10591326 | BRCA1 | c.5099T>A (p.Leu1700Gln) c.5102T>A (p.Leu1701Gln) c.4976T>A (p.Leu1659Gln) c.5096T>A (p.Leu1699Gln) c.5024T>A (p.Leu1675Gln) c.1790T>A (p.Leu597Gln) c.1652T>A (p.Leu551Gln) c.4214T>A (p.Leu1405Gln) c.4979T>A (p.Leu1660Gln) c.5168T>A (p.Leu1723Gln) c.4961T>A (p.Leu1654Gln) c.1664T>A (p.Leu555Gln) c.5165T>A (p.Leu1722Gln) c.1489T>A c.1676T>A (p.Leu559Gln) c.*4885T>A (n.*4885T>A) c.1415T>A (p.Leu472Gln) c.32T>A (p.Leu11Gln) c.575T>A (p.Leu192Gln) c.-98-13734T>A (n.-98-13734T>A) n.5238T>A n.5279T>A | ClinVar dbSNP |
17 | g.43063925G>A | CA500146205 | BRCA1 | c.5098C>T (p.Leu1700=) c.5101C>T (p.Leu1701=) c.4975C>T (p.Leu1659=) c.5095C>T (p.Leu1699=) c.5023C>T (p.Leu1675=) c.1789C>T (p.Leu597=) c.1651C>T (p.Leu551=) c.4213C>T (p.Leu1405=) c.4978C>T (p.Leu1660=) c.5167C>T (p.Leu1723=) c.4960C>T (p.Leu1654=) c.1663C>T (p.Leu555=) c.5164C>T (p.Leu1722=) c.1488C>T c.1675C>T (p.Leu559=) c.*4884C>T (n.*4884C>T) c.1414C>T (p.Leu472=) c.31C>T (p.Leu11=) c.574C>T (p.Leu192=) c.-98-13735C>T (n.-98-13735C>T) n.5237C>T n.5278C>T | ClinVar dbSNP |
17 | g.43063925G>C | CA10591327 | BRCA1 | c.5098C>G (p.Leu1700Val) c.5101C>G (p.Leu1701Val) c.4975C>G (p.Leu1659Val) c.5095C>G (p.Leu1699Val) c.5023C>G (p.Leu1675Val) c.1789C>G (p.Leu597Val) c.1651C>G (p.Leu551Val) c.4213C>G (p.Leu1405Val) c.4978C>G (p.Leu1660Val) c.5167C>G (p.Leu1723Val) c.4960C>G (p.Leu1654Val) c.1663C>G (p.Leu555Val) c.5164C>G (p.Leu1722Val) c.1488C>G c.1675C>G (p.Leu559Val) c.*4884C>G (n.*4884C>G) c.1414C>G (p.Leu472Val) c.31C>G (p.Leu11Val) c.574C>G (p.Leu192Val) c.-98-13735C>G (n.-98-13735C>G) n.5237C>G n.5278C>G | ClinVar dbSNP gnomAD v4 |
17 | g.43063925G= | CA2260769552 | BRCA1 | c.5098C= (p.Leu1700=) c.5101C= (p.Leu1701=) c.4975C= (p.Leu1659=) c.5095C= (p.Leu1699=) c.5023C= (p.Leu1675=) c.1789C= (p.Leu597=) c.1651C= (p.Leu551=) c.4213C= (p.Leu1405=) c.4978C= (p.Leu1660=) c.5167C= (p.Leu1723=) c.4960C= (p.Leu1654=) c.1663C= (p.Leu555=) c.5164C= (p.Leu1722=) c.1488C= c.1675C= (p.Leu559=) c.*4884C= (n.*4884C=) c.1414C= (p.Leu472=) c.31C= (p.Leu11=) c.574C= (p.Leu192=) c.-98-13735C= (n.-98-13735C=) n.5237C= n.5278C= | |
17 | g.43063925G>T | CA10591328 | BRCA1 | c.5098C>A (p.Leu1700Met) c.5101C>A (p.Leu1701Met) c.4975C>A (p.Leu1659Met) c.5095C>A (p.Leu1699Met) c.5023C>A (p.Leu1675Met) c.1789C>A (p.Leu597Met) c.1651C>A (p.Leu551Met) c.4213C>A (p.Leu1405Met) c.4978C>A (p.Leu1660Met) c.5167C>A (p.Leu1723Met) c.4960C>A (p.Leu1654Met) c.1663C>A (p.Leu555Met) c.5164C>A (p.Leu1722Met) c.1488C>A c.1675C>A (p.Leu559Met) c.*4884C>A (n.*4884C>A) c.1414C>A (p.Leu472Met) c.31C>A (p.Leu11Met) c.574C>A (p.Leu192Met) c.-98-13735C>A (n.-98-13735C>A) n.5237C>A n.5278C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43063926T>A | CA500146207 | BRCA1 | c.5097A>T (p.Thr1699=) c.5100A>T (p.Thr1700=) c.4974A>T (p.Thr1658=) c.5094A>T (p.Thr1698=) c.5022A>T (p.Thr1674=) c.1788A>T (p.Thr596=) c.1650A>T (p.Thr550=) c.4212A>T (p.Thr1404=) c.4977A>T (p.Thr1659=) c.5166A>T (p.Thr1722=) c.4959A>T (p.Thr1653=) c.1662A>T (p.Thr554=) c.5163A>T (p.Thr1721=) c.1487A>T c.1674A>T (p.Thr558=) c.*4883A>T (n.*4883A>T) c.1413A>T (p.Thr471=) c.30A>T (p.Thr10=) c.573A>T (p.Thr191=) c.-98-13736A>T (n.-98-13736A>T) n.5236A>T n.5277A>T | ClinVar dbSNP |
17 | g.43063926T>C | CA003241 | BRCA1 | c.5097A>G (p.Thr1699=) c.5100A>G (p.Thr1700=) c.4974A>G (p.Thr1658=) c.5094A>G (p.Thr1698=) c.5022A>G (p.Thr1674=) c.1788A>G (p.Thr596=) c.1650A>G (p.Thr550=) c.4212A>G (p.Thr1404=) c.4977A>G (p.Thr1659=) c.5166A>G (p.Thr1722=) c.4959A>G (p.Thr1653=) c.1662A>G (p.Thr554=) c.5163A>G (p.Thr1721=) c.1487A>G c.1674A>G (p.Thr558=) c.*4883A>G (n.*4883A>G) c.1413A>G (p.Thr471=) c.30A>G (p.Thr10=) c.573A>G (p.Thr191=) c.-98-13736A>G (n.-98-13736A>G) n.5236A>G n.5277A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43063926T>G | CA500146206 | BRCA1 | c.5097A>C (p.Thr1699=) c.5100A>C (p.Thr1700=) c.4974A>C (p.Thr1658=) c.5094A>C (p.Thr1698=) c.5022A>C (p.Thr1674=) c.1788A>C (p.Thr596=) c.1650A>C (p.Thr550=) c.4212A>C (p.Thr1404=) c.4977A>C (p.Thr1659=) c.5166A>C (p.Thr1722=) c.4959A>C (p.Thr1653=) c.1662A>C (p.Thr554=) c.5163A>C (p.Thr1721=) c.1487A>C c.1674A>C (p.Thr558=) c.*4883A>C (n.*4883A>C) c.1413A>C (p.Thr471=) c.30A>C (p.Thr10=) c.573A>C (p.Thr191=) c.-98-13736A>C (n.-98-13736A>C) n.5236A>C n.5277A>C | ClinVar dbSNP |
17 | g.43063926T= | CA2260769553 | BRCA1 | c.5097A= (p.Thr1699=) c.5100A= (p.Thr1700=) c.4974A= (p.Thr1658=) c.5094A= (p.Thr1698=) c.5022A= (p.Thr1674=) c.1788A= (p.Thr596=) c.1650A= (p.Thr550=) c.4212A= (p.Thr1404=) c.4977A= (p.Thr1659=) c.5166A= (p.Thr1722=) c.4959A= (p.Thr1653=) c.1662A= (p.Thr554=) c.5163A= (p.Thr1721=) c.1487A= c.1674A= (p.Thr558=) c.*4883A= (n.*4883A=) c.1413A= (p.Thr471=) c.30A= (p.Thr10=) c.573A= (p.Thr191=) c.-98-13736A= (n.-98-13736A=) n.5236A= n.5277A= | |
17 | g.43063927G>A | CA10591329 | BRCA1 | c.5096C>T (p.Thr1699Ile) c.5099C>T (p.Thr1700Ile) c.4973C>T (p.Thr1658Ile) c.5093C>T (p.Thr1698Ile) c.5021C>T (p.Thr1674Ile) c.1787C>T (p.Thr596Ile) c.1649C>T (p.Thr550Ile) c.4211C>T (p.Thr1404Ile) c.4976C>T (p.Thr1659Ile) c.5165C>T (p.Thr1722Ile) c.4958C>T (p.Thr1653Ile) c.1661C>T (p.Thr554Ile) c.5162C>T (p.Thr1721Ile) c.1486C>T c.1673C>T (p.Thr558Ile) c.*4882C>T (n.*4882C>T) c.1412C>T (p.Thr471Ile) c.29C>T (p.Thr10Ile) c.572C>T (p.Thr191Ile) c.-98-13737C>T (n.-98-13737C>T) n.5235C>T n.5276C>T | ClinVar dbSNP |
17 | g.43063927G>C | CA10591330 | BRCA1 | c.5096C>G (p.Thr1699Arg) c.5099C>G (p.Thr1700Arg) c.4973C>G (p.Thr1658Arg) c.5093C>G (p.Thr1698Arg) c.5021C>G (p.Thr1674Arg) c.1787C>G (p.Thr596Arg) c.1649C>G (p.Thr550Arg) c.4211C>G (p.Thr1404Arg) c.4976C>G (p.Thr1659Arg) c.5165C>G (p.Thr1722Arg) c.4958C>G (p.Thr1653Arg) c.1661C>G (p.Thr554Arg) c.5162C>G (p.Thr1721Arg) c.1486C>G c.1673C>G (p.Thr558Arg) c.*4882C>G (n.*4882C>G) c.1412C>G (p.Thr471Arg) c.29C>G (p.Thr10Arg) c.572C>G (p.Thr191Arg) c.-98-13737C>G (n.-98-13737C>G) n.5235C>G n.5276C>G | ClinVar dbSNP |
17 | g.43063927G= | CA2260769554 | BRCA1 | c.5096C= (p.Thr1699=) c.5099C= (p.Thr1700=) c.4973C= (p.Thr1658=) c.5093C= (p.Thr1698=) c.5021C= (p.Thr1674=) c.1787C= (p.Thr596=) c.1649C= (p.Thr550=) c.4211C= (p.Thr1404=) c.4976C= (p.Thr1659=) c.5165C= (p.Thr1722=) c.4958C= (p.Thr1653=) c.1661C= (p.Thr554=) c.5162C= (p.Thr1721=) c.1486C= c.1673C= (p.Thr558=) c.*4882C= (n.*4882C=) c.1412C= (p.Thr471=) c.29C= (p.Thr10=) c.572C= (p.Thr191=) c.-98-13737C= (n.-98-13737C=) n.5235C= n.5276C= | |
17 | g.43063927G>T | CA10591331 | BRCA1 | c.5096C>A (p.Thr1699Lys) c.5099C>A (p.Thr1700Lys) c.4973C>A (p.Thr1658Lys) c.5093C>A (p.Thr1698Lys) c.5021C>A (p.Thr1674Lys) c.1787C>A (p.Thr596Lys) c.1649C>A (p.Thr550Lys) c.4211C>A (p.Thr1404Lys) c.4976C>A (p.Thr1659Lys) c.5165C>A (p.Thr1722Lys) c.4958C>A (p.Thr1653Lys) c.1661C>A (p.Thr554Lys) c.5162C>A (p.Thr1721Lys) c.1486C>A c.1673C>A (p.Thr558Lys) c.*4882C>A (n.*4882C>A) c.1412C>A (p.Thr471Lys) c.29C>A (p.Thr10Lys) c.572C>A (p.Thr191Lys) c.-98-13737C>A (n.-98-13737C>A) n.5235C>A n.5276C>A | ClinVar dbSNP |
17 | g.43063927_43063928delinsGT | CA2260769555 | BRCA1 | c.5095_5096delinsAC (p.Thr1699=) c.5098_5099delinsAC (p.Thr1700=) c.4972_4973delinsAC (p.Thr1658=) c.5092_5093delinsAC (p.Thr1698=) c.5020_5021delinsAC (p.Thr1674=) c.1786_1787delinsAC (p.Thr596=) c.1648_1649delinsAC (p.Thr550=) c.4210_4211delinsAC (p.Thr1404=) c.4975_4976delinsAC (p.Thr1659=) c.5164_5165delinsAC (p.Thr1722=) c.4957_4958delinsAC (p.Thr1653=) c.1660_1661delinsAC (p.Thr554=) c.5161_5162delinsAC (p.Thr1721=) c.1485_1486delinsAC c.1672_1673delinsAC (p.Thr558=) c.*4881_*4882delinsAC (n.*4881_*4882delinsAC) c.1411_1412delinsAC (p.Thr471=) c.28_29delinsAC (p.Thr10=) c.571_572delinsAC (p.Thr191=) c.-98-13738_-98-13737delinsAC (n.-98-13738_-98-13737delinsAC) n.5234_5235delinsAC n.5275_5276delinsAC | |
17 | g.43063928del | CA003239 | BRCA1 | c.5095del (p.Thr1699HisfsTer2) c.5098del (p.Thr1700HisfsTer2) c.4972del (p.Thr1658HisfsTer2) c.5092del (p.Thr1698HisfsTer2) c.5020del (p.Thr1674HisfsTer2) c.1786del (p.Thr596HisfsTer2) c.1648del (p.Thr550HisfsTer2) c.4210del (p.Thr1404HisfsTer2) c.4975del (p.Thr1659HisfsTer2) c.5164del (p.Thr1722HisfsTer2) c.4957del (p.Thr1653HisfsTer2) c.1660del (p.Thr554HisfsTer2) c.5161del (p.Thr1721HisfsTer2) c.1485del c.1672del (p.Thr558HisfsTer2) c.*4881del (n.*4881del) c.1411del (p.Thr471HisfsTer2) c.28del (p.Thr10HisfsTer2) c.571del (p.Thr191HisfsTer2) c.-98-13738del (n.-98-13738del) n.5234del n.5275del | ClinVar dbSNP |
17 | g.43063928T>A | CA10591332 | BRCA1 | c.5095A>T (p.Thr1699Ser) c.5098A>T (p.Thr1700Ser) c.4972A>T (p.Thr1658Ser) c.5092A>T (p.Thr1698Ser) c.5020A>T (p.Thr1674Ser) c.1786A>T (p.Thr596Ser) c.1648A>T (p.Thr550Ser) c.4210A>T (p.Thr1404Ser) c.4975A>T (p.Thr1659Ser) c.5164A>T (p.Thr1722Ser) c.4957A>T (p.Thr1653Ser) c.1660A>T (p.Thr554Ser) c.5161A>T (p.Thr1721Ser) c.1485A>T c.1672A>T (p.Thr558Ser) c.*4881A>T (n.*4881A>T) c.1411A>T (p.Thr471Ser) c.28A>T (p.Thr10Ser) c.571A>T (p.Thr191Ser) c.-98-13738A>T (n.-98-13738A>T) n.5234A>T n.5275A>T | dbSNP |
17 | g.43063928T>C | CA003238 | BRCA1 | c.5095A>G (p.Thr1699Ala) c.5098A>G (p.Thr1700Ala) c.4972A>G (p.Thr1658Ala) c.5092A>G (p.Thr1698Ala) c.5020A>G (p.Thr1674Ala) c.1786A>G (p.Thr596Ala) c.1648A>G (p.Thr550Ala) c.4210A>G (p.Thr1404Ala) c.4975A>G (p.Thr1659Ala) c.5164A>G (p.Thr1722Ala) c.4957A>G (p.Thr1653Ala) c.1660A>G (p.Thr554Ala) c.5161A>G (p.Thr1721Ala) c.1485A>G c.1672A>G (p.Thr558Ala) c.*4881A>G (n.*4881A>G) c.1411A>G (p.Thr471Ala) c.28A>G (p.Thr10Ala) c.571A>G (p.Thr191Ala) c.-98-13738A>G (n.-98-13738A>G) n.5234A>G n.5275A>G | ClinVar dbSNP |
17 | g.43063928T>G | CA10591333 | BRCA1 | c.5095A>C (p.Thr1699Pro) c.5098A>C (p.Thr1700Pro) c.4972A>C (p.Thr1658Pro) c.5092A>C (p.Thr1698Pro) c.5020A>C (p.Thr1674Pro) c.1786A>C (p.Thr596Pro) c.1648A>C (p.Thr550Pro) c.4210A>C (p.Thr1404Pro) c.4975A>C (p.Thr1659Pro) c.5164A>C (p.Thr1722Pro) c.4957A>C (p.Thr1653Pro) c.1660A>C (p.Thr554Pro) c.5161A>C (p.Thr1721Pro) c.1485A>C c.1672A>C (p.Thr558Pro) c.*4881A>C (n.*4881A>C) c.1411A>C (p.Thr471Pro) c.28A>C (p.Thr10Pro) c.571A>C (p.Thr191Pro) c.-98-13738A>C (n.-98-13738A>C) n.5234A>C n.5275A>C | ClinVar dbSNP |
17 | g.43063928T= | CA2260769556 | BRCA1 | c.5095A= (p.Thr1699=) c.5098A= (p.Thr1700=) c.4972A= (p.Thr1658=) c.5092A= (p.Thr1698=) c.5020A= (p.Thr1674=) c.1786A= (p.Thr596=) c.1648A= (p.Thr550=) c.4210A= (p.Thr1404=) c.4975A= (p.Thr1659=) c.5164A= (p.Thr1722=) c.4957A= (p.Thr1653=) c.1660A= (p.Thr554=) c.5161A= (p.Thr1721=) c.1485A= c.1672A= (p.Thr558=) c.*4881A= (n.*4881A=) c.1411A= (p.Thr471=) c.28A= (p.Thr10=) c.571A= (p.Thr191=) c.-98-13738A= (n.-98-13738A=) n.5234A= n.5275A= | |
17 | g.43063928dup | CA2573320462 | BRCA1 | c.5095dup (p.Thr1699AsnfsTer16) c.5098dup (p.Thr1700AsnfsTer16) c.4972dup (p.Thr1658AsnfsTer16) c.5092dup (p.Thr1698AsnfsTer16) c.5020dup (p.Thr1674AsnfsTer16) c.1786dup (p.Thr596AsnfsTer16) c.1648dup (p.Thr550AsnfsTer16) c.4210dup (p.Thr1404AsnfsTer16) c.4975dup (p.Thr1659AsnfsTer16) c.5164dup (p.Thr1722AsnfsTer16) c.4957dup (p.Thr1653AsnfsTer16) c.1660dup (p.Thr554AsnfsTer16) c.5161dup (p.Thr1721AsnfsTer16) c.1485dup c.1672dup (p.Thr558AsnfsTer16) c.*4881dup (n.*4881dup) c.1411dup (p.Thr471AsnfsTer16) c.28dup (p.Thr10AsnfsTer16) c.571dup (p.Thr191AsnfsTer16) c.-98-13738dup (n.-98-13738dup) n.5234dup n.5275dup | |
17 | g.43063928_43063929insG | CA2573320463 | BRCA1 | c.5094_5095insC (p.Thr1699HisfsTer16) c.5097_5098insC (p.Thr1700HisfsTer16) c.4971_4972insC (p.Thr1658HisfsTer16) c.5091_5092insC (p.Thr1698HisfsTer16) c.5019_5020insC (p.Thr1674HisfsTer16) c.1785_1786insC (p.Thr596HisfsTer16) c.1647_1648insC (p.Thr550HisfsTer16) c.4209_4210insC (p.Thr1404HisfsTer16) c.4974_4975insC (p.Thr1659HisfsTer16) c.5163_5164insC (p.Thr1722HisfsTer16) c.4956_4957insC (p.Thr1653HisfsTer16) c.1659_1660insC (p.Thr554HisfsTer16) c.5160_5161insC (p.Thr1721HisfsTer16) c.1484_1485insC c.1671_1672insC (p.Thr558HisfsTer16) c.*4880_*4881insC (n.*4880_*4881insC) c.1410_1411insC (p.Thr471HisfsTer16) c.27_28insC (p.Thr10HisfsTer16) c.570_571insC (p.Thr191HisfsTer16) c.-98-13739_-98-13738insC (n.-98-13739_-98-13738insC) n.5233_5234insC n.5274_5275insC | |
17 | g.43063929C>A | CA500146208 | BRCA1 | c.5094G>T (p.Arg1698=) c.5097G>T (p.Arg1699=) c.4971G>T (p.Arg1657=) c.5091G>T (p.Arg1697=) c.5019G>T (p.Arg1673=) c.1785G>T (p.Arg595=) c.1647G>T (p.Arg549=) c.4209G>T (p.Arg1403=) c.4974G>T (p.Arg1658=) c.5163G>T (p.Arg1721=) c.4956G>T (p.Arg1652=) c.1659G>T (p.Arg553=) c.5160G>T (p.Arg1720=) c.1484G>T c.1671G>T (p.Arg557=) c.*4880G>T (n.*4880G>T) c.1410G>T (p.Arg470=) c.27G>T (p.Arg9=) c.570G>T (p.Arg190=) c.-98-13739G>T (n.-98-13739G>T) n.5233G>T n.5274G>T | ClinVar dbSNP |
17 | g.43063929C= | CA2260769557 | BRCA1 | c.5094G= (p.Arg1698=) c.5097G= (p.Arg1699=) c.4971G= (p.Arg1657=) c.5091G= (p.Arg1697=) c.5019G= (p.Arg1673=) c.1785G= (p.Arg595=) c.1647G= (p.Arg549=) c.4209G= (p.Arg1403=) c.4974G= (p.Arg1658=) c.5163G= (p.Arg1721=) c.4956G= (p.Arg1652=) c.1659G= (p.Arg553=) c.5160G= (p.Arg1720=) c.1484G= c.1671G= (p.Arg557=) c.*4880G= (n.*4880G=) c.1410G= (p.Arg470=) c.27G= (p.Arg9=) c.570G= (p.Arg190=) c.-98-13739G= (n.-98-13739G=) n.5233G= n.5274G= | |
17 | g.43063929C>G | CA500146209 | BRCA1 | c.5094G>C (p.Arg1698=) c.5097G>C (p.Arg1699=) c.4971G>C (p.Arg1657=) c.5091G>C (p.Arg1697=) c.5019G>C (p.Arg1673=) c.1785G>C (p.Arg595=) c.1647G>C (p.Arg549=) c.4209G>C (p.Arg1403=) c.4974G>C (p.Arg1658=) c.5163G>C (p.Arg1721=) c.4956G>C (p.Arg1652=) c.1659G>C (p.Arg553=) c.5160G>C (p.Arg1720=) c.1484G>C c.1671G>C (p.Arg557=) c.*4880G>C (n.*4880G>C) c.1410G>C (p.Arg470=) c.27G>C (p.Arg9=) c.570G>C (p.Arg190=) c.-98-13739G>C (n.-98-13739G>C) n.5233G>C n.5274G>C | dbSNP |
17 | g.43063929C>T | CA500146210 | BRCA1 | c.5094G>A (p.Arg1698=) c.5097G>A (p.Arg1699=) c.4971G>A (p.Arg1657=) c.5091G>A (p.Arg1697=) c.5019G>A (p.Arg1673=) c.1785G>A (p.Arg595=) c.1647G>A (p.Arg549=) c.4209G>A (p.Arg1403=) c.4974G>A (p.Arg1658=) c.5163G>A (p.Arg1721=) c.4956G>A (p.Arg1652=) c.1659G>A (p.Arg553=) c.5160G>A (p.Arg1720=) c.1484G>A c.1671G>A (p.Arg557=) c.*4880G>A (n.*4880G>A) c.1410G>A (p.Arg470=) c.27G>A (p.Arg9=) c.570G>A (p.Arg190=) c.-98-13739G>A (n.-98-13739G>A) n.5233G>A n.5274G>A | ClinVar dbSNP |
17 | g.43063929_43063930del | CA915940270 | BRCA1 | c.5093_5094del (p.Arg1698HisfsTer16) c.5096_5097del (p.Arg1699HisfsTer16) c.4970_4971del (p.Arg1657HisfsTer16) c.5090_5091del (p.Arg1697HisfsTer16) c.5018_5019del (p.Arg1673HisfsTer16) c.1784_1785del (p.Arg595HisfsTer16) c.1646_1647del (p.Arg549HisfsTer16) c.4208_4209del (p.Arg1403HisfsTer16) c.4973_4974del (p.Arg1658HisfsTer16) c.5162_5163del (p.Arg1721HisfsTer16) c.4955_4956del (p.Arg1652HisfsTer16) c.1658_1659del (p.Arg553HisfsTer16) c.5159_5160del (p.Arg1720HisfsTer16) c.1483_1484del c.1670_1671del (p.Arg557HisfsTer16) c.*4879_*4880del (n.*4879_*4880del) c.1409_1410del (p.Arg470HisfsTer16) c.26_27del (p.Arg9HisfsTer16) c.569_570del (p.Arg190HisfsTer16) c.-98-13740_-98-13739del (n.-98-13740_-98-13739del) n.5232_5233del n.5273_5274del | |
17 | g.43063929_43063930delinsAG | CA913203491 | BRCA1 | c.5093_5094delinsCT (p.Arg1698Pro) c.5096_5097delinsCT (p.Arg1699Pro) c.4970_4971delinsCT (p.Arg1657Pro) c.5090_5091delinsCT (p.Arg1697Pro) c.5018_5019delinsCT (p.Arg1673Pro) c.1784_1785delinsCT (p.Arg595Pro) c.1646_1647delinsCT (p.Arg549Pro) c.4208_4209delinsCT (p.Arg1403Pro) c.4973_4974delinsCT (p.Arg1658Pro) c.5162_5163delinsCT (p.Arg1721Pro) c.4955_4956delinsCT (p.Arg1652Pro) c.1658_1659delinsCT (p.Arg553Pro) c.5159_5160delinsCT (p.Arg1720Pro) c.1483_1484delinsCT c.1670_1671delinsCT (p.Arg557Pro) c.*4879_*4880delinsCT (n.*4879_*4880delinsCT) c.1409_1410delinsCT (p.Arg470Pro) c.26_27delinsCT (p.Arg9Pro) c.569_570delinsCT (p.Arg190Pro) c.-98-13740_-98-13739delinsCT (n.-98-13740_-98-13739delinsCT) n.5232_5233delinsCT n.5273_5274delinsCT | |
17 | g.43063930dup | CA913203492 | BRCA1 | c.5094dup (p.Thr1699AspfsTer16) c.5097dup (p.Thr1700AspfsTer16) c.4971dup (p.Thr1658AspfsTer16) c.5091dup (p.Thr1698AspfsTer16) c.5019dup (p.Thr1674AspfsTer16) c.1785dup (p.Thr596AspfsTer16) c.1647dup (p.Thr550AspfsTer16) c.4209dup (p.Thr1404AspfsTer16) c.4974dup (p.Thr1659AspfsTer16) c.5163dup (p.Thr1722AspfsTer16) c.4956dup (p.Thr1653AspfsTer16) c.1659dup (p.Thr554AspfsTer16) c.5160dup (p.Thr1721AspfsTer16) c.1484dup c.1671dup (p.Thr558AspfsTer16) c.*4880dup (n.*4880dup) c.1410dup (p.Thr471AspfsTer16) c.27dup (p.Thr10AspfsTer16) c.570dup (p.Thr191AspfsTer16) c.-98-13739dup (n.-98-13739dup) n.5233dup n.5274dup | |
17 | g.43063930del | CA915940246 | BRCA1 | c.5094del (p.Thr1699HisfsTer2) c.5097del (p.Thr1700HisfsTer2) c.4971del (p.Thr1658HisfsTer2) c.5091del (p.Thr1698HisfsTer2) c.5019del (p.Thr1674HisfsTer2) c.1785del (p.Thr596HisfsTer2) c.1647del (p.Thr550HisfsTer2) c.4209del (p.Thr1404HisfsTer2) c.4974del (p.Thr1659HisfsTer2) c.5163del (p.Thr1722HisfsTer2) c.4956del (p.Thr1653HisfsTer2) c.1659del (p.Thr554HisfsTer2) c.5160del (p.Thr1721HisfsTer2) c.1484del c.1671del (p.Thr558HisfsTer2) c.*4880del (n.*4880del) c.1410del (p.Thr471HisfsTer2) c.27del (p.Thr10HisfsTer2) c.570del (p.Thr191HisfsTer2) c.-98-13739del (n.-98-13739del) n.5233del n.5274del | |
17 | g.43063929_43063930insA | CA915940217 | BRCA1 | c.5093_5094insT (p.Thr1699AspfsTer16) c.5096_5097insT (p.Thr1700AspfsTer16) c.4970_4971insT (p.Thr1658AspfsTer16) c.5090_5091insT (p.Thr1698AspfsTer16) c.5018_5019insT (p.Thr1674AspfsTer16) c.1784_1785insT (p.Thr596AspfsTer16) c.1646_1647insT (p.Thr550AspfsTer16) c.4208_4209insT (p.Thr1404AspfsTer16) c.4973_4974insT (p.Thr1659AspfsTer16) c.5162_5163insT (p.Thr1722AspfsTer16) c.4955_4956insT (p.Thr1653AspfsTer16) c.1658_1659insT (p.Thr554AspfsTer16) c.5159_5160insT (p.Thr1721AspfsTer16) c.1483_1484insT c.1670_1671insT (p.Thr558AspfsTer16) c.*4879_*4880insT (n.*4879_*4880insT) c.1409_1410insT (p.Thr471AspfsTer16) c.26_27insT (p.Thr10AspfsTer16) c.569_570insT (p.Thr191AspfsTer16) c.-98-13740_-98-13739insT (n.-98-13740_-98-13739insT) n.5232_5233insT n.5273_5274insT | |
17 | g.43063929_43063930insAAA | CA915940245 | BRCA1 | c.5093_5094insTTT (p.Arg1698_Thr1699insLeu) c.5096_5097insTTT (p.Arg1699_Thr1700insLeu) c.4970_4971insTTT (p.Arg1657_Thr1658insLeu) c.5090_5091insTTT (p.Arg1697_Thr1698insLeu) c.5018_5019insTTT (p.Arg1673_Thr1674insLeu) c.1784_1785insTTT (p.Arg595_Thr596insLeu) c.1646_1647insTTT (p.Arg549_Thr550insLeu) c.4208_4209insTTT (p.Arg1403_Thr1404insLeu) c.4973_4974insTTT (p.Arg1658_Thr1659insLeu) c.5162_5163insTTT (p.Arg1721_Thr1722insLeu) c.4955_4956insTTT (p.Arg1652_Thr1653insLeu) c.1658_1659insTTT (p.Arg553_Thr554insLeu) c.5159_5160insTTT (p.Arg1720_Thr1721insLeu) c.1483_1484insTTT c.1670_1671insTTT (p.Arg557_Thr558insLeu) c.*4879_*4880insTTT (n.*4879_*4880insTTT) c.1409_1410insTTT (p.Arg470_Thr471insLeu) c.26_27insTTT (p.Arg9_Thr10insLeu) c.569_570insTTT (p.Arg190_Thr191insLeu) c.-98-13740_-98-13739insTTT (n.-98-13740_-98-13739insTTT) n.5232_5233insTTT n.5273_5274insTTT | |
17 | g.43063930C>A | CA003237 | BRCA1 | c.5093G>T (p.Arg1698Leu) c.5096G>T (p.Arg1699Leu) c.4970G>T (p.Arg1657Leu) c.5090G>T (p.Arg1697Leu) c.5018G>T (p.Arg1673Leu) c.1784G>T (p.Arg595Leu) c.1646G>T (p.Arg549Leu) c.4208G>T (p.Arg1403Leu) c.4973G>T (p.Arg1658Leu) c.5162G>T (p.Arg1721Leu) c.4955G>T (p.Arg1652Leu) c.1658G>T (p.Arg553Leu) c.5159G>T (p.Arg1720Leu) c.1483G>T c.1670G>T (p.Arg557Leu) c.*4879G>T (n.*4879G>T) c.1409G>T (p.Arg470Leu) c.26G>T (p.Arg9Leu) c.569G>T (p.Arg190Leu) c.-98-13740G>T (n.-98-13740G>T) n.5232G>T n.5273G>T | ClinVar dbSNP |
17 | g.43063930C= | CA913203494 | BRCA1 | c.5093G= (p.Arg1698=) c.5096G= (p.Arg1699=) c.4970G= (p.Arg1657=) c.5090G= (p.Arg1697=) c.5018G= (p.Arg1673=) c.1784G= (p.Arg595=) c.1646G= (p.Arg549=) c.4208G= (p.Arg1403=) c.4973G= (p.Arg1658=) c.5162G= (p.Arg1721=) c.4955G= (p.Arg1652=) c.1658G= (p.Arg553=) c.5159G= (p.Arg1720=) c.1483G= c.1670G= (p.Arg557=) c.*4879G= (n.*4879G=) c.1409G= (p.Arg470=) c.26G= (p.Arg9=) c.569G= (p.Arg190=) c.-98-13740G= (n.-98-13740G=) n.5232G= n.5273G= | |
17 | g.43063930C>G | CA003236 | BRCA1 | c.5093G>C (p.Arg1698Pro) c.5096G>C (p.Arg1699Pro) c.4970G>C (p.Arg1657Pro) c.5090G>C (p.Arg1697Pro) c.5018G>C (p.Arg1673Pro) c.1784G>C (p.Arg595Pro) c.1646G>C (p.Arg549Pro) c.4208G>C (p.Arg1403Pro) c.4973G>C (p.Arg1658Pro) c.5162G>C (p.Arg1721Pro) c.4955G>C (p.Arg1652Pro) c.1658G>C (p.Arg553Pro) c.5159G>C (p.Arg1720Pro) c.1483G>C c.1670G>C (p.Arg557Pro) c.*4879G>C (n.*4879G>C) c.1409G>C (p.Arg470Pro) c.26G>C (p.Arg9Pro) c.569G>C (p.Arg190Pro) c.-98-13740G>C (n.-98-13740G>C) n.5232G>C n.5273G>C | ClinVar dbSNP |
17 | g.43063930C>T | CA003235 | BRCA1 | c.5093G>A (p.Arg1698Gln) c.5096G>A (p.Arg1699Gln) c.4970G>A (p.Arg1657Gln) c.5090G>A (p.Arg1697Gln) c.5018G>A (p.Arg1673Gln) c.1784G>A (p.Arg595Gln) c.1646G>A (p.Arg549Gln) c.4208G>A (p.Arg1403Gln) c.4973G>A (p.Arg1658Gln) c.5162G>A (p.Arg1721Gln) c.4955G>A (p.Arg1652Gln) c.1658G>A (p.Arg553Gln) c.5159G>A (p.Arg1720Gln) c.1483G>A c.1670G>A (p.Arg557Gln) c.*4879G>A (n.*4879G>A) c.1409G>A (p.Arg470Gln) c.26G>A (p.Arg9Gln) c.569G>A (p.Arg190Gln) c.-98-13740G>A (n.-98-13740G>A) n.5232G>A n.5273G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43063930_43063932dup | CA915940244 | BRCA1 | c.5091_5093dup (p.Arg1698_Thr1699insArg) c.5094_5096dup (p.Arg1699_Thr1700insArg) c.4968_4970dup (p.Arg1657_Thr1658insArg) c.5088_5090dup (p.Arg1697_Thr1698insArg) c.5016_5018dup (p.Arg1673_Thr1674insArg) c.1782_1784dup (p.Arg595_Thr596insArg) c.1644_1646dup (p.Arg549_Thr550insArg) c.4206_4208dup (p.Arg1403_Thr1404insArg) c.4971_4973dup (p.Arg1658_Thr1659insArg) c.5160_5162dup (p.Arg1721_Thr1722insArg) c.4953_4955dup (p.Arg1652_Thr1653insArg) c.1656_1658dup (p.Arg553_Thr554insArg) c.5157_5159dup (p.Arg1720_Thr1721insArg) c.1481_1483dup c.1668_1670dup (p.Arg557_Thr558insArg) c.*4877_*4879dup (n.*4877_*4879dup) c.1407_1409dup (p.Arg470_Thr471insArg) c.24_26dup (p.Arg9_Thr10insArg) c.567_569dup (p.Arg190_Thr191insArg) c.-98-13742_-98-13740dup (n.-98-13742_-98-13740dup) n.5230_5232dup n.5271_5273dup | |
17 | g.43063930_43063931insCGT | CA915940249 | BRCA1 | c.5092_5093insACG (p.Arg1698delinsHisGly) c.5095_5096insACG (p.Arg1699delinsHisGly) c.4969_4970insACG (p.Arg1657delinsHisGly) c.5089_5090insACG (p.Arg1697delinsHisGly) c.5017_5018insACG (p.Arg1673delinsHisGly) c.1783_1784insACG (p.Arg595delinsHisGly) c.1645_1646insACG (p.Arg549delinsHisGly) c.4207_4208insACG (p.Arg1403delinsHisGly) c.4972_4973insACG (p.Arg1658delinsHisGly) c.5161_5162insACG (p.Arg1721delinsHisGly) c.4954_4955insACG (p.Arg1652delinsHisGly) c.1657_1658insACG (p.Arg553delinsHisGly) c.5158_5159insACG (p.Arg1720delinsHisGly) c.1482_1483insACG c.1669_1670insACG (p.Arg557delinsHisGly) c.*4878_*4879insACG (n.*4878_*4879insACG) c.1408_1409insACG (p.Arg470delinsHisGly) c.25_26insACG (p.Arg9delinsHisGly) c.568_569insACG (p.Arg190delinsHisGly) c.-98-13741_-98-13740insACG (n.-98-13741_-98-13740insACG) n.5231_5232insACG n.5272_5273insACG | |
17 | g.43063931G>A | CA003234 | BRCA1 | c.5092C>T (p.Arg1698Trp) c.5095C>T (p.Arg1699Trp) c.4969C>T (p.Arg1657Trp) c.5089C>T (p.Arg1697Trp) c.5017C>T (p.Arg1673Trp) c.1783C>T (p.Arg595Trp) c.1645C>T (p.Arg549Trp) c.4207C>T (p.Arg1403Trp) c.4972C>T (p.Arg1658Trp) c.5161C>T (p.Arg1721Trp) c.4954C>T (p.Arg1652Trp) c.1657C>T (p.Arg553Trp) c.5158C>T (p.Arg1720Trp) c.1482C>T c.1669C>T (p.Arg557Trp) c.*4878C>T (n.*4878C>T) c.1408C>T (p.Arg470Trp) c.25C>T (p.Arg9Trp) c.568C>T (p.Arg190Trp) c.-98-13741C>T (n.-98-13741C>T) n.5231C>T n.5272C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43063931G>C | CA10591334 | BRCA1 | c.5092C>G (p.Arg1698Gly) c.5095C>G (p.Arg1699Gly) c.4969C>G (p.Arg1657Gly) c.5089C>G (p.Arg1697Gly) c.5017C>G (p.Arg1673Gly) c.1783C>G (p.Arg595Gly) c.1645C>G (p.Arg549Gly) c.4207C>G (p.Arg1403Gly) c.4972C>G (p.Arg1658Gly) c.5161C>G (p.Arg1721Gly) c.4954C>G (p.Arg1652Gly) c.1657C>G (p.Arg553Gly) c.5158C>G (p.Arg1720Gly) c.1482C>G c.1669C>G (p.Arg557Gly) c.*4878C>G (n.*4878C>G) c.1408C>G (p.Arg470Gly) c.25C>G (p.Arg9Gly) c.568C>G (p.Arg190Gly) c.-98-13741C>G (n.-98-13741C>G) n.5231C>G n.5272C>G | ClinVar dbSNP |
17 | g.43063931G= | CA2260769558 | BRCA1 | c.5092C= (p.Arg1698=) c.5095C= (p.Arg1699=) c.4969C= (p.Arg1657=) c.5089C= (p.Arg1697=) c.5017C= (p.Arg1673=) c.1783C= (p.Arg595=) c.1645C= (p.Arg549=) c.4207C= (p.Arg1403=) c.4972C= (p.Arg1658=) c.5161C= (p.Arg1721=) c.4954C= (p.Arg1652=) c.1657C= (p.Arg553=) c.5158C= (p.Arg1720=) c.1482C= c.1669C= (p.Arg557=) c.*4878C= (n.*4878C=) c.1408C= (p.Arg470=) c.25C= (p.Arg9=) c.568C= (p.Arg190=) c.-98-13741C= (n.-98-13741C=) n.5231C= n.5272C= | |
17 | g.43063931G>T | CA003233 | BRCA1 | c.5092C>A (p.Arg1698=) c.5095C>A (p.Arg1699=) c.4969C>A (p.Arg1657=) c.5089C>A (p.Arg1697=) c.5017C>A (p.Arg1673=) c.1783C>A (p.Arg595=) c.1645C>A (p.Arg549=) c.4207C>A (p.Arg1403=) c.4972C>A (p.Arg1658=) c.5161C>A (p.Arg1721=) c.4954C>A (p.Arg1652=) c.1657C>A (p.Arg553=) c.5158C>A (p.Arg1720=) c.1482C>A c.1669C>A (p.Arg557=) c.*4878C>A (n.*4878C>A) c.1408C>A (p.Arg470=) c.25C>A (p.Arg9=) c.568C>A (p.Arg190=) c.-98-13741C>A (n.-98-13741C>A) n.5231C>A n.5272C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43063931delinsCGT | CA915940248 | BRCA1 | c.5092delinsACG (p.Arg1698ThrfsTer4) c.5095delinsACG (p.Arg1699ThrfsTer4) c.4969delinsACG (p.Arg1657ThrfsTer4) c.5089delinsACG (p.Arg1697ThrfsTer4) c.5017delinsACG (p.Arg1673ThrfsTer4) c.1783delinsACG (p.Arg595ThrfsTer4) c.1645delinsACG (p.Arg549ThrfsTer4) c.4207delinsACG (p.Arg1403ThrfsTer4) c.4972delinsACG (p.Arg1658ThrfsTer4) c.5161delinsACG (p.Arg1721ThrfsTer4) c.4954delinsACG (p.Arg1652ThrfsTer4) c.1657delinsACG (p.Arg553ThrfsTer4) c.5158delinsACG (p.Arg1720ThrfsTer4) c.1482delinsACG c.1669delinsACG (p.Arg557ThrfsTer4) c.*4878delinsACG (n.*4878delinsACG) c.1408delinsACG (p.Arg470ThrfsTer4) c.25delinsACG (p.Arg9ThrfsTer4) c.568delinsACG (p.Arg190ThrfsTer4) c.-98-13741delinsACG (n.-98-13741delinsACG) n.5231delinsACG n.5272delinsACG | |
17 | g.43063932T>A | CA10591335 | BRCA1 | c.5091A>T (p.Glu1697Asp) c.5094A>T (p.Glu1698Asp) c.4968A>T (p.Glu1656Asp) c.5088A>T (p.Glu1696Asp) c.5016A>T (p.Glu1672Asp) c.1782A>T (p.Glu594Asp) c.1644A>T (p.Glu548Asp) c.4206A>T (p.Glu1402Asp) c.4971A>T (p.Glu1657Asp) c.5160A>T (p.Glu1720Asp) c.4953A>T (p.Glu1651Asp) c.1656A>T (p.Glu552Asp) c.5157A>T (p.Glu1719Asp) c.1481A>T c.1668A>T (p.Glu556Asp) c.*4877A>T (n.*4877A>T) c.1407A>T (p.Glu469Asp) c.24A>T (p.Glu8Asp) c.567A>T (p.Glu189Asp) c.-98-13742A>T (n.-98-13742A>T) n.5230A>T n.5271A>T | ClinVar dbSNP |
17 | g.43063932T>C | CA003232 | BRCA1 | c.5091A>G (p.Glu1697=) c.5094A>G (p.Glu1698=) c.4968A>G (p.Glu1656=) c.5088A>G (p.Glu1696=) c.5016A>G (p.Glu1672=) c.1782A>G (p.Glu594=) c.1644A>G (p.Glu548=) c.4206A>G (p.Glu1402=) c.4971A>G (p.Glu1657=) c.5160A>G (p.Glu1720=) c.4953A>G (p.Glu1651=) c.1656A>G (p.Glu552=) c.5157A>G (p.Glu1719=) c.1481A>G c.1668A>G (p.Glu556=) c.*4877A>G (n.*4877A>G) c.1407A>G (p.Glu469=) c.24A>G (p.Glu8=) c.567A>G (p.Glu189=) c.-98-13742A>G (n.-98-13742A>G) n.5230A>G n.5271A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43063932T>G | CA10591336 | BRCA1 | c.5091A>C (p.Glu1697Asp) c.5094A>C (p.Glu1698Asp) c.4968A>C (p.Glu1656Asp) c.5088A>C (p.Glu1696Asp) c.5016A>C (p.Glu1672Asp) c.1782A>C (p.Glu594Asp) c.1644A>C (p.Glu548Asp) c.4206A>C (p.Glu1402Asp) c.4971A>C (p.Glu1657Asp) c.5160A>C (p.Glu1720Asp) c.4953A>C (p.Glu1651Asp) c.1656A>C (p.Glu552Asp) c.5157A>C (p.Glu1719Asp) c.1481A>C c.1668A>C (p.Glu556Asp) c.*4877A>C (n.*4877A>C) c.1407A>C (p.Glu469Asp) c.24A>C (p.Glu8Asp) c.567A>C (p.Glu189Asp) c.-98-13742A>C (n.-98-13742A>C) n.5230A>C n.5271A>C | ClinVar dbSNP |
17 | g.43063932T= | CA2260769559 | BRCA1 | c.5091A= (p.Glu1697=) c.5094A= (p.Glu1698=) c.4968A= (p.Glu1656=) c.5088A= (p.Glu1696=) c.5016A= (p.Glu1672=) c.1782A= (p.Glu594=) c.1644A= (p.Glu548=) c.4206A= (p.Glu1402=) c.4971A= (p.Glu1657=) c.5160A= (p.Glu1720=) c.4953A= (p.Glu1651=) c.1656A= (p.Glu552=) c.5157A= (p.Glu1719=) c.1481A= c.1668A= (p.Glu556=) c.*4877A= (n.*4877A=) c.1407A= (p.Glu469=) c.24A= (p.Glu8=) c.567A= (p.Glu189=) c.-98-13742A= (n.-98-13742A=) n.5230A= n.5271A= | |
17 | g.43063933T>A | CA10591337 | BRCA1 | c.5090A>T (p.Glu1697Val) c.5093A>T (p.Glu1698Val) c.4967A>T (p.Glu1656Val) c.5087A>T (p.Glu1696Val) c.5015A>T (p.Glu1672Val) c.1781A>T (p.Glu594Val) c.1643A>T (p.Glu548Val) c.4205A>T (p.Glu1402Val) c.4970A>T (p.Glu1657Val) c.5159A>T (p.Glu1720Val) c.4952A>T (p.Glu1651Val) c.1655A>T (p.Glu552Val) c.5156A>T (p.Glu1719Val) c.1480A>T c.1667A>T (p.Glu556Val) c.*4876A>T (n.*4876A>T) c.1406A>T (p.Glu469Val) c.23A>T (p.Glu8Val) c.566A>T (p.Glu189Val) c.-98-13743A>T (n.-98-13743A>T) n.5229A>T n.5270A>T | ClinVar dbSNP |
17 | g.43063933T>C | CA10591338 | BRCA1 | c.5090A>G (p.Glu1697Gly) c.5093A>G (p.Glu1698Gly) c.4967A>G (p.Glu1656Gly) c.5087A>G (p.Glu1696Gly) c.5015A>G (p.Glu1672Gly) c.1781A>G (p.Glu594Gly) c.1643A>G (p.Glu548Gly) c.4205A>G (p.Glu1402Gly) c.4970A>G (p.Glu1657Gly) c.5159A>G (p.Glu1720Gly) c.4952A>G (p.Glu1651Gly) c.1655A>G (p.Glu552Gly) c.5156A>G (p.Glu1719Gly) c.1480A>G c.1667A>G (p.Glu556Gly) c.*4876A>G (n.*4876A>G) c.1406A>G (p.Glu469Gly) c.23A>G (p.Glu8Gly) c.566A>G (p.Glu189Gly) c.-98-13743A>G (n.-98-13743A>G) n.5229A>G n.5270A>G | ClinVar dbSNP |
17 | g.43063933T>G | CA10591339 | BRCA1 | c.5090A>C (p.Glu1697Ala) c.5093A>C (p.Glu1698Ala) c.4967A>C (p.Glu1656Ala) c.5087A>C (p.Glu1696Ala) c.5015A>C (p.Glu1672Ala) c.1781A>C (p.Glu594Ala) c.1643A>C (p.Glu548Ala) c.4205A>C (p.Glu1402Ala) c.4970A>C (p.Glu1657Ala) c.5159A>C (p.Glu1720Ala) c.4952A>C (p.Glu1651Ala) c.1655A>C (p.Glu552Ala) c.5156A>C (p.Glu1719Ala) c.1480A>C c.1667A>C (p.Glu556Ala) c.*4876A>C (n.*4876A>C) c.1406A>C (p.Glu469Ala) c.23A>C (p.Glu8Ala) c.566A>C (p.Glu189Ala) c.-98-13743A>C (n.-98-13743A>C) n.5229A>C n.5270A>C | ClinVar dbSNP |
17 | g.43063933T= | CA2260769561 | BRCA1 | c.5090A= (p.Glu1697=) c.5093A= (p.Glu1698=) c.4967A= (p.Glu1656=) c.5087A= (p.Glu1696=) c.5015A= (p.Glu1672=) c.1781A= (p.Glu594=) c.1643A= (p.Glu548=) c.4205A= (p.Glu1402=) c.4970A= (p.Glu1657=) c.5159A= (p.Glu1720=) c.4952A= (p.Glu1651=) c.1655A= (p.Glu552=) c.5156A= (p.Glu1719=) c.1480A= c.1667A= (p.Glu556=) c.*4876A= (n.*4876A=) c.1406A= (p.Glu469=) c.23A= (p.Glu8=) c.566A= (p.Glu189=) c.-98-13743A= (n.-98-13743A=) n.5229A= n.5270A= | |
17 | g.43063933_43063935delinsTCA | CA2260769560 | BRCA1 | c.5088_5090delinsTGA (p.Cys1696=) c.5091_5093delinsTGA (p.Cys1697=) c.4965_4967delinsTGA (p.Cys1655=) c.5085_5087delinsTGA (p.Cys1695=) c.5013_5015delinsTGA (p.Cys1671=) c.1779_1781delinsTGA (p.Cys593=) c.1641_1643delinsTGA (p.Cys547=) c.4203_4205delinsTGA (p.Cys1401=) c.4968_4970delinsTGA (p.Cys1656=) c.5157_5159delinsTGA (p.Cys1719=) c.4950_4952delinsTGA (p.Cys1650=) c.1653_1655delinsTGA (p.Cys551=) c.5154_5156delinsTGA (p.Cys1718=) c.1478_1480delinsTGA c.1665_1667delinsTGA (p.Cys555=) c.*4874_*4876delinsTGA (n.*4874_*4876delinsTGA) c.1404_1406delinsTGA (p.Cys468=) c.21_23delinsTGA (p.Cys7=) c.564_566delinsTGA (p.Cys188=) c.-98-13745_-98-13743delinsTGA (n.-98-13745_-98-13743delinsTGA) n.5227_5229delinsTGA n.5268_5270delinsTGA | |
17 | g.43063934C>A | CA10591340 | BRCA1 | c.5089G>T (p.Glu1697Ter) c.5092G>T (p.Glu1698Ter) c.4966G>T (p.Glu1656Ter) c.5086G>T (p.Glu1696Ter) c.5014G>T (p.Glu1672Ter) c.1780G>T (p.Glu594Ter) c.1642G>T (p.Glu548Ter) c.4204G>T (p.Glu1402Ter) c.4969G>T (p.Glu1657Ter) c.5158G>T (p.Glu1720Ter) c.4951G>T (p.Glu1651Ter) c.1654G>T (p.Glu552Ter) c.5155G>T (p.Glu1719Ter) c.1479G>T c.1666G>T (p.Glu556Ter) c.*4875G>T (n.*4875G>T) c.1405G>T (p.Glu469Ter) c.22G>T (p.Glu8Ter) c.565G>T (p.Glu189Ter) c.-98-13744G>T (n.-98-13744G>T) n.5228G>T n.5269G>T | ClinVar dbSNP |
17 | g.43063934C= | CA2260769563 | BRCA1 | c.5089G= (p.Glu1697=) c.5092G= (p.Glu1698=) c.4966G= (p.Glu1656=) c.5086G= (p.Glu1696=) c.5014G= (p.Glu1672=) c.1780G= (p.Glu594=) c.1642G= (p.Glu548=) c.4204G= (p.Glu1402=) c.4969G= (p.Glu1657=) c.5158G= (p.Glu1720=) c.4951G= (p.Glu1651=) c.1654G= (p.Glu552=) c.5155G= (p.Glu1719=) c.1479G= c.1666G= (p.Glu556=) c.*4875G= (n.*4875G=) c.1405G= (p.Glu469=) c.22G= (p.Glu8=) c.565G= (p.Glu189=) c.-98-13744G= (n.-98-13744G=) n.5228G= n.5269G= | |
17 | g.43063934C>G | CA10591341 | BRCA1 | c.5089G>C (p.Glu1697Gln) c.5092G>C (p.Glu1698Gln) c.4966G>C (p.Glu1656Gln) c.5086G>C (p.Glu1696Gln) c.5014G>C (p.Glu1672Gln) c.1780G>C (p.Glu594Gln) c.1642G>C (p.Glu548Gln) c.4204G>C (p.Glu1402Gln) c.4969G>C (p.Glu1657Gln) c.5158G>C (p.Glu1720Gln) c.4951G>C (p.Glu1651Gln) c.1654G>C (p.Glu552Gln) c.5155G>C (p.Glu1719Gln) c.1479G>C c.1666G>C (p.Glu556Gln) c.*4875G>C (n.*4875G>C) c.1405G>C (p.Glu469Gln) c.22G>C (p.Glu8Gln) c.565G>C (p.Glu189Gln) c.-98-13744G>C (n.-98-13744G>C) n.5228G>C n.5269G>C | ClinVar dbSNP |
17 | g.43063934C>T | CA10591342 | BRCA1 | c.5089G>A (p.Glu1697Lys) c.5092G>A (p.Glu1698Lys) c.4966G>A (p.Glu1656Lys) c.5086G>A (p.Glu1696Lys) c.5014G>A (p.Glu1672Lys) c.1780G>A (p.Glu594Lys) c.1642G>A (p.Glu548Lys) c.4204G>A (p.Glu1402Lys) c.4969G>A (p.Glu1657Lys) c.5158G>A (p.Glu1720Lys) c.4951G>A (p.Glu1651Lys) c.1654G>A (p.Glu552Lys) c.5155G>A (p.Glu1719Lys) c.1479G>A c.1666G>A (p.Glu556Lys) c.*4875G>A (n.*4875G>A) c.1405G>A (p.Glu469Lys) c.22G>A (p.Glu8Lys) c.565G>A (p.Glu189Lys) c.-98-13744G>A (n.-98-13744G>A) n.5228G>A n.5269G>A | ClinVar dbSNP |
17 | g.43063934_43063935delinsCA | CA2260769562 | BRCA1 | c.5088_5089delinsTG (p.Cys1696=) c.5091_5092delinsTG (p.Cys1697=) c.4965_4966delinsTG (p.Cys1655=) c.5085_5086delinsTG (p.Cys1695=) c.5013_5014delinsTG (p.Cys1671=) c.1779_1780delinsTG (p.Cys593=) c.1641_1642delinsTG (p.Cys547=) c.4203_4204delinsTG (p.Cys1401=) c.4968_4969delinsTG (p.Cys1656=) c.5157_5158delinsTG (p.Cys1719=) c.4950_4951delinsTG (p.Cys1650=) c.1653_1654delinsTG (p.Cys551=) c.5154_5155delinsTG (p.Cys1718=) c.1478_1479delinsTG c.1665_1666delinsTG (p.Cys555=) c.*4874_*4875delinsTG (n.*4874_*4875delinsTG) c.1404_1405delinsTG (p.Cys468=) c.21_22delinsTG (p.Cys7=) c.564_565delinsTG (p.Cys188=) c.-98-13745_-98-13744delinsTG (n.-98-13745_-98-13744delinsTG) n.5227_5228delinsTG n.5268_5269delinsTG | |
17 | g.43063940_43063941dup | CA2580612626 | BRCA1 | c.5088_5089dup (p.Glu1697ValfsTer5) c.5091_5092dup (p.Glu1698ValfsTer5) c.4965_4966dup (p.Glu1656ValfsTer5) c.5085_5086dup (p.Glu1696ValfsTer5) c.5013_5014dup (p.Glu1672ValfsTer5) c.1779_1780dup (p.Glu594ValfsTer5) c.1641_1642dup (p.Glu548ValfsTer5) c.4203_4204dup (p.Glu1402ValfsTer5) c.4968_4969dup (p.Glu1657ValfsTer5) c.5157_5158dup (p.Glu1720ValfsTer5) c.4950_4951dup (p.Glu1651ValfsTer5) c.1653_1654dup (p.Glu552ValfsTer5) c.5154_5155dup (p.Glu1719ValfsTer5) c.1478_1479dup c.1665_1666dup (p.Glu556ValfsTer5) c.*4874_*4875dup (n.*4874_*4875dup) c.1404_1405dup (p.Glu469ValfsTer5) c.21_22dup (p.Glu8ValfsTer5) c.564_565dup (p.Glu189ValfsTer5) c.-98-13745_-98-13744dup (n.-98-13745_-98-13744dup) n.5227_5228dup n.5268_5269dup | ClinVar |
17 | g.43063940_43063941del | CA003231 | BRCA1 | c.5088_5089del (p.Cys1696Ter) c.5091_5092del (p.Cys1697Ter) c.4965_4966del (p.Cys1655Ter) c.5085_5086del (p.Cys1695Ter) c.5013_5014del (p.Cys1671Ter) c.1779_1780del (p.Cys593Ter) c.1641_1642del (p.Cys547Ter) c.4203_4204del (p.Cys1401Ter) c.4968_4969del (p.Cys1656Ter) c.5157_5158del (p.Cys1719Ter) c.4950_4951del (p.Cys1650Ter) c.1653_1654del (p.Cys551Ter) c.5154_5155del (p.Cys1718Ter) c.1478_1479del c.1665_1666del (p.Cys555Ter) c.*4874_*4875del (n.*4874_*4875del) c.1404_1405del (p.Cys468Ter) c.21_22del (p.Cys7Ter) c.564_565del (p.Cys188Ter) c.-98-13745_-98-13744del (n.-98-13745_-98-13744del) n.5227_5228del n.5268_5269del | ClinVar dbSNP |
17 | g.43063938_43063941del | CA2580612627 | BRCA1 | c.5086_5089del (p.Cys1696AsnfsTer4) c.5089_5092del (p.Cys1697AsnfsTer4) c.4963_4966del (p.Cys1655AsnfsTer4) c.5083_5086del (p.Cys1695AsnfsTer4) c.5011_5014del (p.Cys1671AsnfsTer4) c.1777_1780del (p.Cys593AsnfsTer4) c.1639_1642del (p.Cys547AsnfsTer4) c.4201_4204del (p.Cys1401AsnfsTer4) c.4966_4969del (p.Cys1656AsnfsTer4) c.5155_5158del (p.Cys1719AsnfsTer4) c.4948_4951del (p.Cys1650AsnfsTer4) c.1651_1654del (p.Cys551AsnfsTer4) c.5152_5155del (p.Cys1718AsnfsTer4) c.1476_1479del c.1663_1666del (p.Cys555AsnfsTer4) c.*4872_*4875del (n.*4872_*4875del) c.1402_1405del (p.Cys468AsnfsTer4) c.19_22del (p.Cys7AsnfsTer4) c.562_565del (p.Cys188AsnfsTer4) c.-98-13747_-98-13744del (n.-98-13747_-98-13744del) n.5225_5228del n.5266_5269del | ClinVar dbSNP |
17 | g.43063935del | CA645373158 | BRCA1 | c.5088del (p.Cys1696TrpfsTer5) c.5091del (p.Cys1697TrpfsTer5) c.4965del (p.Cys1655TrpfsTer5) c.5085del (p.Cys1695TrpfsTer5) c.5013del (p.Cys1671TrpfsTer5) c.1779del (p.Cys593TrpfsTer5) c.1641del (p.Cys547TrpfsTer5) c.4203del (p.Cys1401TrpfsTer5) c.4968del (p.Cys1656TrpfsTer5) c.5157del (p.Cys1719TrpfsTer5) c.4950del (p.Cys1650TrpfsTer5) c.1653del (p.Cys551TrpfsTer5) c.5154del (p.Cys1718TrpfsTer5) c.1478del c.1665del (p.Cys555TrpfsTer5) c.*4874del (n.*4874del) c.1404del (p.Cys468TrpfsTer5) c.21del (p.Cys7TrpfsTer5) c.564del (p.Cys188TrpfsTer5) c.-98-13745del (n.-98-13745del) n.5227del n.5268del | ClinVar dbSNP |
17 | g.43063935A= | CA2260769564 | BRCA1 | c.5088T= (p.Cys1696=) c.5091T= (p.Cys1697=) c.4965T= (p.Cys1655=) c.5085T= (p.Cys1695=) c.5013T= (p.Cys1671=) c.1779T= (p.Cys593=) c.1641T= (p.Cys547=) c.4203T= (p.Cys1401=) c.4968T= (p.Cys1656=) c.5157T= (p.Cys1719=) c.4950T= (p.Cys1650=) c.1653T= (p.Cys551=) c.5154T= (p.Cys1718=) c.1478T= c.1665T= (p.Cys555=) c.*4874T= (n.*4874T=) c.1404T= (p.Cys468=) c.21T= (p.Cys7=) c.564T= (p.Cys188=) c.-98-13745T= (n.-98-13745T=) n.5227T= n.5268T= | |
17 | g.43063935A>C | CA10591343 | BRCA1 | c.5088T>G (p.Cys1696Trp) c.5091T>G (p.Cys1697Trp) c.4965T>G (p.Cys1655Trp) c.5085T>G (p.Cys1695Trp) c.5013T>G (p.Cys1671Trp) c.1779T>G (p.Cys593Trp) c.1641T>G (p.Cys547Trp) c.4203T>G (p.Cys1401Trp) c.4968T>G (p.Cys1656Trp) c.5157T>G (p.Cys1719Trp) c.4950T>G (p.Cys1650Trp) c.1653T>G (p.Cys551Trp) c.5154T>G (p.Cys1718Trp) c.1478T>G c.1665T>G (p.Cys555Trp) c.*4874T>G (n.*4874T>G) c.1404T>G (p.Cys468Trp) c.21T>G (p.Cys7Trp) c.564T>G (p.Cys188Trp) c.-98-13745T>G (n.-98-13745T>G) n.5227T>G n.5268T>G | ClinVar dbSNP |
17 | g.43063935A>G | CA500146211 | BRCA1 | c.5088T>C (p.Cys1696=) c.5091T>C (p.Cys1697=) c.4965T>C (p.Cys1655=) c.5085T>C (p.Cys1695=) c.5013T>C (p.Cys1671=) c.1779T>C (p.Cys593=) c.1641T>C (p.Cys547=) c.4203T>C (p.Cys1401=) c.4968T>C (p.Cys1656=) c.5157T>C (p.Cys1719=) c.4950T>C (p.Cys1650=) c.1653T>C (p.Cys551=) c.5154T>C (p.Cys1718=) c.1478T>C c.1665T>C (p.Cys555=) c.*4874T>C (n.*4874T>C) c.1404T>C (p.Cys468=) c.21T>C (p.Cys7=) c.564T>C (p.Cys188=) c.-98-13745T>C (n.-98-13745T>C) n.5227T>C n.5268T>C | ClinVar dbSNP |
17 | g.43063935A>T | CA10591344 | BRCA1 | c.5088T>A (p.Cys1696Ter) c.5091T>A (p.Cys1697Ter) c.4965T>A (p.Cys1655Ter) c.5085T>A (p.Cys1695Ter) c.5013T>A (p.Cys1671Ter) c.1779T>A (p.Cys593Ter) c.1641T>A (p.Cys547Ter) c.4203T>A (p.Cys1401Ter) c.4968T>A (p.Cys1656Ter) c.5157T>A (p.Cys1719Ter) c.4950T>A (p.Cys1650Ter) c.1653T>A (p.Cys551Ter) c.5154T>A (p.Cys1718Ter) c.1478T>A c.1665T>A (p.Cys555Ter) c.*4874T>A (n.*4874T>A) c.1404T>A (p.Cys468Ter) c.21T>A (p.Cys7Ter) c.564T>A (p.Cys188Ter) c.-98-13745T>A (n.-98-13745T>A) n.5227T>A n.5268T>A | ClinVar dbSNP |
17 | g.43063937_43063944del | CA2580093960 | BRCA1 | c.5081_5088del (p.Phe1694Ter) c.5084_5091del (p.Phe1695Ter) c.4958_4965del (p.Phe1653Ter) c.5078_5085del (p.Phe1693Ter) c.5006_5013del (p.Phe1669Ter) c.1772_1779del (p.Phe591Ter) c.1634_1641del (p.Phe545Ter) c.4196_4203del (p.Phe1399Ter) c.4961_4968del (p.Phe1654Ter) c.5150_5157del (p.Phe1717Ter) c.4943_4950del (p.Phe1648Ter) c.1646_1653del (p.Phe549Ter) c.5147_5154del (p.Phe1716Ter) c.1471_1478del c.1658_1665del (p.Phe553Ter) c.*4867_*4874del (n.*4867_*4874del) c.1397_1404del (p.Phe466Ter) c.14_21del (p.Phe5Ter) c.557_564del (p.Phe186Ter) c.-98-13752_-98-13745del (n.-98-13752_-98-13745del) n.5220_5227del n.5261_5268del | ClinVar |
17 | g.43063936del | CA2499224381 | BRCA1 | c.5087del (p.Cys1696LeufsTer5) c.5090del (p.Cys1697LeufsTer5) c.4964del (p.Cys1655LeufsTer5) c.5084del (p.Cys1695LeufsTer5) c.5012del (p.Cys1671LeufsTer5) c.1778del (p.Cys593LeufsTer5) c.1640del (p.Cys547LeufsTer5) c.4202del (p.Cys1401LeufsTer5) c.4967del (p.Cys1656LeufsTer5) c.5156del (p.Cys1719LeufsTer5) c.4949del (p.Cys1650LeufsTer5) c.1652del (p.Cys551LeufsTer5) c.5153del (p.Cys1718LeufsTer5) c.1477del c.1664del (p.Cys555LeufsTer5) c.*4873del (n.*4873del) c.1403del (p.Cys468LeufsTer5) c.20del (p.Cys7LeufsTer5) c.563del (p.Cys188LeufsTer5) c.-98-13746del (n.-98-13746del) n.5226del n.5267del | |
17 | g.43063936C>A | CA10591345 | BRCA1 | c.5087G>T (p.Cys1696Phe) c.5090G>T (p.Cys1697Phe) c.4964G>T (p.Cys1655Phe) c.5084G>T (p.Cys1695Phe) c.5012G>T (p.Cys1671Phe) c.1778G>T (p.Cys593Phe) c.1640G>T (p.Cys547Phe) c.4202G>T (p.Cys1401Phe) c.4967G>T (p.Cys1656Phe) c.5156G>T (p.Cys1719Phe) c.4949G>T (p.Cys1650Phe) c.1652G>T (p.Cys551Phe) c.5153G>T (p.Cys1718Phe) c.1477G>T c.1664G>T (p.Cys555Phe) c.*4873G>T (n.*4873G>T) c.1403G>T (p.Cys468Phe) c.20G>T (p.Cys7Phe) c.563G>T (p.Cys188Phe) c.-98-13746G>T (n.-98-13746G>T) n.5226G>T n.5267G>T | ClinVar dbSNP |
17 | g.43063936C= | CA2260769565 | BRCA1 | c.5087G= (p.Cys1696=) c.5090G= (p.Cys1697=) c.4964G= (p.Cys1655=) c.5084G= (p.Cys1695=) c.5012G= (p.Cys1671=) c.1778G= (p.Cys593=) c.1640G= (p.Cys547=) c.4202G= (p.Cys1401=) c.4967G= (p.Cys1656=) c.5156G= (p.Cys1719=) c.4949G= (p.Cys1650=) c.1652G= (p.Cys551=) c.5153G= (p.Cys1718=) c.1477G= c.1664G= (p.Cys555=) c.*4873G= (n.*4873G=) c.1403G= (p.Cys468=) c.20G= (p.Cys7=) c.563G= (p.Cys188=) c.-98-13746G= (n.-98-13746G=) n.5226G= n.5267G= | |
17 | g.43063936C>G | CA10591346 | BRCA1 | c.5087G>C (p.Cys1696Ser) c.5090G>C (p.Cys1697Ser) c.4964G>C (p.Cys1655Ser) c.5084G>C (p.Cys1695Ser) c.5012G>C (p.Cys1671Ser) c.1778G>C (p.Cys593Ser) c.1640G>C (p.Cys547Ser) c.4202G>C (p.Cys1401Ser) c.4967G>C (p.Cys1656Ser) c.5156G>C (p.Cys1719Ser) c.4949G>C (p.Cys1650Ser) c.1652G>C (p.Cys551Ser) c.5153G>C (p.Cys1718Ser) c.1477G>C c.1664G>C (p.Cys555Ser) c.*4873G>C (n.*4873G>C) c.1403G>C (p.Cys468Ser) c.20G>C (p.Cys7Ser) c.563G>C (p.Cys188Ser) c.-98-13746G>C (n.-98-13746G>C) n.5226G>C n.5267G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.43063936C>T | CA003230 | BRCA1 | c.5087G>A (p.Cys1696Tyr) c.5090G>A (p.Cys1697Tyr) c.4964G>A (p.Cys1655Tyr) c.5084G>A (p.Cys1695Tyr) c.5012G>A (p.Cys1671Tyr) c.1778G>A (p.Cys593Tyr) c.1640G>A (p.Cys547Tyr) c.4202G>A (p.Cys1401Tyr) c.4967G>A (p.Cys1656Tyr) c.5156G>A (p.Cys1719Tyr) c.4949G>A (p.Cys1650Tyr) c.1652G>A (p.Cys551Tyr) c.5153G>A (p.Cys1718Tyr) c.1477G>A c.1664G>A (p.Cys555Tyr) c.*4873G>A (n.*4873G>A) c.1403G>A (p.Cys468Tyr) c.20G>A (p.Cys7Tyr) c.563G>A (p.Cys188Tyr) c.-98-13746G>A (n.-98-13746G>A) n.5226G>A n.5267G>A | ClinVar dbSNP |
17 | g.43063936_43063942delinsCACACAA | CA2260769566 | BRCA1 | c.5081_5087delinsTTGTGTG (p.Phe1694=) c.5084_5090delinsTTGTGTG (p.Phe1695=) c.4958_4964delinsTTGTGTG (p.Phe1653=) c.5078_5084delinsTTGTGTG (p.Phe1693=) c.5006_5012delinsTTGTGTG (p.Phe1669=) c.1772_1778delinsTTGTGTG (p.Phe591=) c.1634_1640delinsTTGTGTG (p.Phe545=) c.4196_4202delinsTTGTGTG (p.Phe1399=) c.4961_4967delinsTTGTGTG (p.Phe1654=) c.5150_5156delinsTTGTGTG (p.Phe1717=) c.4943_4949delinsTTGTGTG (p.Phe1648=) c.1646_1652delinsTTGTGTG (p.Phe549=) c.5147_5153delinsTTGTGTG (p.Phe1716=) c.1471_1477delinsTTGTGTG c.1658_1664delinsTTGTGTG (p.Phe553=) c.*4867_*4873delinsTTGTGTG (n.*4867_*4873delinsTTGTGTG) c.1397_1403delinsTTGTGTG (p.Phe466=) c.14_20delinsTTGTGTG (p.Phe5=) c.557_563delinsTTGTGTG (p.Phe186=) c.-98-13752_-98-13746delinsTTGTGTG (n.-98-13752_-98-13746delinsTTGTGTG) n.5220_5226delinsTTGTGTG n.5261_5267delinsTTGTGTG | |
17 | g.43063937A= | CA2260769567 | BRCA1 | c.5086T= (p.Cys1696=) c.5089T= (p.Cys1697=) c.4963T= (p.Cys1655=) c.5083T= (p.Cys1695=) c.5011T= (p.Cys1671=) c.1777T= (p.Cys593=) c.1639T= (p.Cys547=) c.4201T= (p.Cys1401=) c.4966T= (p.Cys1656=) c.5155T= (p.Cys1719=) c.4948T= (p.Cys1650=) c.1651T= (p.Cys551=) c.5152T= (p.Cys1718=) c.1476T= c.1663T= (p.Cys555=) c.*4872T= (n.*4872T=) c.1402T= (p.Cys468=) c.19T= (p.Cys7=) c.562T= (p.Cys188=) c.-98-13747T= (n.-98-13747T=) n.5225T= n.5266T= | |
17 | g.43063937A>C | CA10591347 | BRCA1 | c.5086T>G (p.Cys1696Gly) c.5089T>G (p.Cys1697Gly) c.4963T>G (p.Cys1655Gly) c.5083T>G (p.Cys1695Gly) c.5011T>G (p.Cys1671Gly) c.1777T>G (p.Cys593Gly) c.1639T>G (p.Cys547Gly) c.4201T>G (p.Cys1401Gly) c.4966T>G (p.Cys1656Gly) c.5155T>G (p.Cys1719Gly) c.4948T>G (p.Cys1650Gly) c.1651T>G (p.Cys551Gly) c.5152T>G (p.Cys1718Gly) c.1476T>G c.1663T>G (p.Cys555Gly) c.*4872T>G (n.*4872T>G) c.1402T>G (p.Cys468Gly) c.19T>G (p.Cys7Gly) c.562T>G (p.Cys188Gly) c.-98-13747T>G (n.-98-13747T>G) n.5225T>G n.5266T>G | ClinVar dbSNP |
17 | g.43063937A>G | CA003228 | BRCA1 | c.5086T>C (p.Cys1696Arg) c.5089T>C (p.Cys1697Arg) c.4963T>C (p.Cys1655Arg) c.5083T>C (p.Cys1695Arg) c.5011T>C (p.Cys1671Arg) c.1777T>C (p.Cys593Arg) c.1639T>C (p.Cys547Arg) c.4201T>C (p.Cys1401Arg) c.4966T>C (p.Cys1656Arg) c.5155T>C (p.Cys1719Arg) c.4948T>C (p.Cys1650Arg) c.1651T>C (p.Cys551Arg) c.5152T>C (p.Cys1718Arg) c.1476T>C c.1663T>C (p.Cys555Arg) c.*4872T>C (n.*4872T>C) c.1402T>C (p.Cys468Arg) c.19T>C (p.Cys7Arg) c.562T>C (p.Cys188Arg) c.-98-13747T>C (n.-98-13747T>C) n.5225T>C n.5266T>C | ClinVar dbSNP |
17 | g.43063937A>T | CA003227 | BRCA1 | c.5086T>A (p.Cys1696Ser) c.5089T>A (p.Cys1697Ser) c.4963T>A (p.Cys1655Ser) c.5083T>A (p.Cys1695Ser) c.5011T>A (p.Cys1671Ser) c.1777T>A (p.Cys593Ser) c.1639T>A (p.Cys547Ser) c.4201T>A (p.Cys1401Ser) c.4966T>A (p.Cys1656Ser) c.5155T>A (p.Cys1719Ser) c.4948T>A (p.Cys1650Ser) c.1651T>A (p.Cys551Ser) c.5152T>A (p.Cys1718Ser) c.1476T>A c.1663T>A (p.Cys555Ser) c.*4872T>A (n.*4872T>A) c.1402T>A (p.Cys468Ser) c.19T>A (p.Cys7Ser) c.562T>A (p.Cys188Ser) c.-98-13747T>A (n.-98-13747T>A) n.5225T>A n.5266T>A | ClinVar dbSNP |
17 | g.43063939_43063944del | CA1139665573 | BRCA1 | c.5081_5086del (p.Phe1694_Val1695del) c.5084_5089del (p.Phe1695_Val1696del) c.4958_4963del (p.Phe1653_Val1654del) c.5078_5083del (p.Phe1693_Val1694del) c.5006_5011del (p.Phe1669_Val1670del) c.1772_1777del (p.Phe591_Val592del) c.1634_1639del (p.Phe545_Val546del) c.4196_4201del (p.Phe1399_Val1400del) c.4961_4966del (p.Phe1654_Val1655del) c.5150_5155del (p.Phe1717_Val1718del) c.4943_4948del (p.Phe1648_Val1649del) c.1646_1651del (p.Phe549_Val550del) c.5147_5152del (p.Phe1716_Val1717del) c.1471_1476del c.1658_1663del (p.Phe553_Val554del) c.*4867_*4872del (n.*4867_*4872del) c.1397_1402del (p.Phe466_Val467del) c.14_19del (p.Phe5_Val6del) c.557_562del (p.Phe186_Val187del) c.-98-13752_-98-13747del (n.-98-13752_-98-13747del) n.5220_5225del n.5261_5266del | ClinVar dbSNP |
17 | g.43063938C>A | CA500146212 | BRCA1 | c.5085G>T (p.Val1695=) c.5088G>T (p.Val1696=) c.4962G>T (p.Val1654=) c.5082G>T (p.Val1694=) c.5010G>T (p.Val1670=) c.1776G>T (p.Val592=) c.1638G>T (p.Val546=) c.4200G>T (p.Val1400=) c.4965G>T (p.Val1655=) c.5154G>T (p.Val1718=) c.4947G>T (p.Val1649=) c.1650G>T (p.Val550=) c.5151G>T (p.Val1717=) c.1475G>T c.1662G>T (p.Val554=) c.*4871G>T (n.*4871G>T) c.1401G>T (p.Val467=) c.18G>T (p.Val6=) c.561G>T (p.Val187=) c.-98-13748G>T (n.-98-13748G>T) n.5224G>T n.5265G>T | ClinVar dbSNP |
17 | g.43063938C= | CA2260769568 | BRCA1 | c.5085G= (p.Val1695=) c.5088G= (p.Val1696=) c.4962G= (p.Val1654=) c.5082G= (p.Val1694=) c.5010G= (p.Val1670=) c.1776G= (p.Val592=) c.1638G= (p.Val546=) c.4200G= (p.Val1400=) c.4965G= (p.Val1655=) c.5154G= (p.Val1718=) c.4947G= (p.Val1649=) c.1650G= (p.Val550=) c.5151G= (p.Val1717=) c.1475G= c.1662G= (p.Val554=) c.*4871G= (n.*4871G=) c.1401G= (p.Val467=) c.18G= (p.Val6=) c.561G= (p.Val187=) c.-98-13748G= (n.-98-13748G=) n.5224G= n.5265G= | |
17 | g.43063938C>G | CA500146213 | BRCA1 | c.5085G>C (p.Val1695=) c.5088G>C (p.Val1696=) c.4962G>C (p.Val1654=) c.5082G>C (p.Val1694=) c.5010G>C (p.Val1670=) c.1776G>C (p.Val592=) c.1638G>C (p.Val546=) c.4200G>C (p.Val1400=) c.4965G>C (p.Val1655=) c.5154G>C (p.Val1718=) c.4947G>C (p.Val1649=) c.1650G>C (p.Val550=) c.5151G>C (p.Val1717=) c.1475G>C c.1662G>C (p.Val554=) c.*4871G>C (n.*4871G>C) c.1401G>C (p.Val467=) c.18G>C (p.Val6=) c.561G>C (p.Val187=) c.-98-13748G>C (n.-98-13748G>C) n.5224G>C n.5265G>C | ClinVar dbSNP |
17 | g.43063938C>T | CA10583552 | BRCA1 | c.5085G>A (p.Val1695=) c.5088G>A (p.Val1696=) c.4962G>A (p.Val1654=) c.5082G>A (p.Val1694=) c.5010G>A (p.Val1670=) c.1776G>A (p.Val592=) c.1638G>A (p.Val546=) c.4200G>A (p.Val1400=) c.4965G>A (p.Val1655=) c.5154G>A (p.Val1718=) c.4947G>A (p.Val1649=) c.1650G>A (p.Val550=) c.5151G>A (p.Val1717=) c.1475G>A c.1662G>A (p.Val554=) c.*4871G>A (n.*4871G>A) c.1401G>A (p.Val467=) c.18G>A (p.Val6=) c.561G>A (p.Val187=) c.-98-13748G>A (n.-98-13748G>A) n.5224G>A n.5265G>A | ClinVar dbSNP gnomAD v4 |
17 | g.43063939A= | CA2260769569 | BRCA1 | c.5084T= (p.Val1695=) c.5087T= (p.Val1696=) c.4961T= (p.Val1654=) c.5081T= (p.Val1694=) c.5009T= (p.Val1670=) c.1775T= (p.Val592=) c.1637T= (p.Val546=) c.4199T= (p.Val1400=) c.4964T= (p.Val1655=) c.5153T= (p.Val1718=) c.4946T= (p.Val1649=) c.1649T= (p.Val550=) c.5150T= (p.Val1717=) c.1474T= c.1661T= (p.Val554=) c.*4870T= (n.*4870T=) c.1400T= (p.Val467=) c.17T= (p.Val6=) c.560T= (p.Val187=) c.-98-13749T= (n.-98-13749T=) n.5223T= n.5264T= | |
17 | g.43063939A>C | CA10591348 | BRCA1 | c.5084T>G (p.Val1695Gly) c.5087T>G (p.Val1696Gly) c.4961T>G (p.Val1654Gly) c.5081T>G (p.Val1694Gly) c.5009T>G (p.Val1670Gly) c.1775T>G (p.Val592Gly) c.1637T>G (p.Val546Gly) c.4199T>G (p.Val1400Gly) c.4964T>G (p.Val1655Gly) c.5153T>G (p.Val1718Gly) c.4946T>G (p.Val1649Gly) c.1649T>G (p.Val550Gly) c.5150T>G (p.Val1717Gly) c.1474T>G c.1661T>G (p.Val554Gly) c.*4870T>G (n.*4870T>G) c.1400T>G (p.Val467Gly) c.17T>G (p.Val6Gly) c.560T>G (p.Val187Gly) c.-98-13749T>G (n.-98-13749T>G) n.5223T>G n.5264T>G | ClinVar dbSNP |
17 | g.43063939A>G | CA10591349 | BRCA1 | c.5084T>C (p.Val1695Ala) c.5087T>C (p.Val1696Ala) c.4961T>C (p.Val1654Ala) c.5081T>C (p.Val1694Ala) c.5009T>C (p.Val1670Ala) c.1775T>C (p.Val592Ala) c.1637T>C (p.Val546Ala) c.4199T>C (p.Val1400Ala) c.4964T>C (p.Val1655Ala) c.5153T>C (p.Val1718Ala) c.4946T>C (p.Val1649Ala) c.1649T>C (p.Val550Ala) c.5150T>C (p.Val1717Ala) c.1474T>C c.1661T>C (p.Val554Ala) c.*4870T>C (n.*4870T>C) c.1400T>C (p.Val467Ala) c.17T>C (p.Val6Ala) c.560T>C (p.Val187Ala) c.-98-13749T>C (n.-98-13749T>C) n.5223T>C n.5264T>C | ClinVar dbSNP |
17 | g.43063939A>T | CA003225 | BRCA1 | c.5084T>A (p.Val1695Glu) c.5087T>A (p.Val1696Glu) c.4961T>A (p.Val1654Glu) c.5081T>A (p.Val1694Glu) c.5009T>A (p.Val1670Glu) c.1775T>A (p.Val592Glu) c.1637T>A (p.Val546Glu) c.4199T>A (p.Val1400Glu) c.4964T>A (p.Val1655Glu) c.5153T>A (p.Val1718Glu) c.4946T>A (p.Val1649Glu) c.1649T>A (p.Val550Glu) c.5150T>A (p.Val1717Glu) c.1474T>A c.1661T>A (p.Val554Glu) c.*4870T>A (n.*4870T>A) c.1400T>A (p.Val467Glu) c.17T>A (p.Val6Glu) c.560T>A (p.Val187Glu) c.-98-13749T>A (n.-98-13749T>A) n.5223T>A n.5264T>A | ClinVar dbSNP |
17 | g.43063941_43063944del | CA2739265602 | BRCA1 | c.5081_5084del (p.Phe1694CysfsTer6) c.5084_5087del (p.Phe1695CysfsTer6) c.4958_4961del (p.Phe1653CysfsTer6) c.5078_5081del (p.Phe1693CysfsTer6) c.5006_5009del (p.Phe1669CysfsTer6) c.1772_1775del (p.Phe591CysfsTer6) c.1634_1637del (p.Phe545CysfsTer6) c.4196_4199del (p.Phe1399CysfsTer6) c.4961_4964del (p.Phe1654CysfsTer6) c.5150_5153del (p.Phe1717CysfsTer6) c.4943_4946del (p.Phe1648CysfsTer6) c.1646_1649del (p.Phe549CysfsTer6) c.5147_5150del (p.Phe1716CysfsTer6) c.1471_1474del c.1658_1661del (p.Phe553CysfsTer6) c.*4867_*4870del (n.*4867_*4870del) c.1397_1400del (p.Phe466CysfsTer6) c.14_17del (p.Phe5CysfsTer6) c.557_560del (p.Phe186CysfsTer6) c.-98-13752_-98-13749del (n.-98-13752_-98-13749del) n.5220_5223del n.5261_5264del | ClinVar |
17 | g.43063940C>A | CA10583553 | BRCA1 | c.5083G>T (p.Val1695Leu) c.5086G>T (p.Val1696Leu) c.4960G>T (p.Val1654Leu) c.5080G>T (p.Val1694Leu) c.5008G>T (p.Val1670Leu) c.1774G>T (p.Val592Leu) c.1636G>T (p.Val546Leu) c.4198G>T (p.Val1400Leu) c.4963G>T (p.Val1655Leu) c.5152G>T (p.Val1718Leu) c.4945G>T (p.Val1649Leu) c.1648G>T (p.Val550Leu) c.5149G>T (p.Val1717Leu) c.1473G>T c.1660G>T (p.Val554Leu) c.*4869G>T (n.*4869G>T) c.1399G>T (p.Val467Leu) c.16G>T (p.Val6Leu) c.559G>T (p.Val187Leu) c.-98-13750G>T (n.-98-13750G>T) n.5222G>T n.5263G>T | ClinVar dbSNP |
17 | g.43063940C= | CA2260769570 | BRCA1 | c.5083G= (p.Val1695=) c.5086G= (p.Val1696=) c.4960G= (p.Val1654=) c.5080G= (p.Val1694=) c.5008G= (p.Val1670=) c.1774G= (p.Val592=) c.1636G= (p.Val546=) c.4198G= (p.Val1400=) c.4963G= (p.Val1655=) c.5152G= (p.Val1718=) c.4945G= (p.Val1649=) c.1648G= (p.Val550=) c.5149G= (p.Val1717=) c.1473G= c.1660G= (p.Val554=) c.*4869G= (n.*4869G=) c.1399G= (p.Val467=) c.16G= (p.Val6=) c.559G= (p.Val187=) c.-98-13750G= (n.-98-13750G=) n.5222G= n.5263G= | |
17 | g.43063940C>G | CA003224 | BRCA1 | c.5083G>C (p.Val1695Leu) c.5086G>C (p.Val1696Leu) c.4960G>C (p.Val1654Leu) c.5080G>C (p.Val1694Leu) c.5008G>C (p.Val1670Leu) c.1774G>C (p.Val592Leu) c.1636G>C (p.Val546Leu) c.4198G>C (p.Val1400Leu) c.4963G>C (p.Val1655Leu) c.5152G>C (p.Val1718Leu) c.4945G>C (p.Val1649Leu) c.1648G>C (p.Val550Leu) c.5149G>C (p.Val1717Leu) c.1473G>C c.1660G>C (p.Val554Leu) c.*4869G>C (n.*4869G>C) c.1399G>C (p.Val467Leu) c.16G>C (p.Val6Leu) c.559G>C (p.Val187Leu) c.-98-13750G>C (n.-98-13750G>C) n.5222G>C n.5263G>C | ClinVar dbSNP gnomAD v4 |
17 | g.43063940C>T | CA10591350 | BRCA1 | c.5083G>A (p.Val1695Met) c.5086G>A (p.Val1696Met) c.4960G>A (p.Val1654Met) c.5080G>A (p.Val1694Met) c.5008G>A (p.Val1670Met) c.1774G>A (p.Val592Met) c.1636G>A (p.Val546Met) c.4198G>A (p.Val1400Met) c.4963G>A (p.Val1655Met) c.5152G>A (p.Val1718Met) c.4945G>A (p.Val1649Met) c.1648G>A (p.Val550Met) c.5149G>A (p.Val1717Met) c.1473G>A c.1660G>A (p.Val554Met) c.*4869G>A (n.*4869G>A) c.1399G>A (p.Val467Met) c.16G>A (p.Val6Met) c.559G>A (p.Val187Met) c.-98-13750G>A (n.-98-13750G>A) n.5222G>A n.5263G>A | ClinVar dbSNP |
17 | g.43063940_43063942delinsCAA | CA2260769571 | BRCA1 | c.5081_5083delinsTTG (p.Phe1694=) c.5084_5086delinsTTG (p.Phe1695=) c.4958_4960delinsTTG (p.Phe1653=) c.5078_5080delinsTTG (p.Phe1693=) c.5006_5008delinsTTG (p.Phe1669=) c.1772_1774delinsTTG (p.Phe591=) c.1634_1636delinsTTG (p.Phe545=) c.4196_4198delinsTTG (p.Phe1399=) c.4961_4963delinsTTG (p.Phe1654=) c.5150_5152delinsTTG (p.Phe1717=) c.4943_4945delinsTTG (p.Phe1648=) c.1646_1648delinsTTG (p.Phe549=) c.5147_5149delinsTTG (p.Phe1716=) c.1471_1473delinsTTG c.1658_1660delinsTTG (p.Phe553=) c.*4867_*4869delinsTTG (n.*4867_*4869delinsTTG) c.1397_1399delinsTTG (p.Phe466=) c.14_16delinsTTG (p.Phe5=) c.557_559delinsTTG (p.Phe186=) c.-98-13752_-98-13750delinsTTG (n.-98-13752_-98-13750delinsTTG) n.5220_5222delinsTTG n.5261_5263delinsTTG | |
17 | g.43063942_43063947del | CA2697559913 | BRCA1 | c.5078_5083del (p.Glu1693_Phe1694del) c.5081_5086del (p.Glu1694_Phe1695del) c.4955_4960del (p.Glu1652_Phe1653del) c.5075_5080del (p.Glu1692_Phe1693del) c.5003_5008del (p.Glu1668_Phe1669del) c.1769_1774del (p.Glu590_Phe591del) c.1631_1636del (p.Glu544_Phe545del) c.4193_4198del (p.Glu1398_Phe1399del) c.4958_4963del (p.Glu1653_Phe1654del) c.5147_5152del (p.Glu1716_Phe1717del) c.4940_4945del (p.Glu1647_Phe1648del) c.1643_1648del (p.Glu548_Phe549del) c.5144_5149del (p.Glu1715_Phe1716del) c.1468_1473del c.1655_1660del (p.Glu552_Phe553del) c.*4864_*4869del (n.*4864_*4869del) c.1394_1399del (p.Glu465_Phe466del) c.11_16del (p.Glu4_Phe5del) c.554_559del (p.Glu185_Phe186del) c.-98-13755_-98-13750del (n.-98-13755_-98-13750del) n.5217_5222del n.5258_5263del | ClinVar |
17 | g.43063941A= | CA2260769572 | BRCA1 | c.5082T= (p.Phe1694=) c.5085T= (p.Phe1695=) c.4959T= (p.Phe1653=) c.5079T= (p.Phe1693=) c.5007T= (p.Phe1669=) c.1773T= (p.Phe591=) c.1635T= (p.Phe545=) c.4197T= (p.Phe1399=) c.4962T= (p.Phe1654=) c.5151T= (p.Phe1717=) c.4944T= (p.Phe1648=) c.1647T= (p.Phe549=) c.5148T= (p.Phe1716=) c.1472T= c.1659T= (p.Phe553=) c.*4868T= (n.*4868T=) c.1398T= (p.Phe466=) c.15T= (p.Phe5=) c.558T= (p.Phe186=) c.-98-13751T= (n.-98-13751T=) n.5221T= n.5262T= | |
17 | g.43063941A>C | CA10591351 | BRCA1 | c.5082T>G (p.Phe1694Leu) c.5085T>G (p.Phe1695Leu) c.4959T>G (p.Phe1653Leu) c.5079T>G (p.Phe1693Leu) c.5007T>G (p.Phe1669Leu) c.1773T>G (p.Phe591Leu) c.1635T>G (p.Phe545Leu) c.4197T>G (p.Phe1399Leu) c.4962T>G (p.Phe1654Leu) c.5151T>G (p.Phe1717Leu) c.4944T>G (p.Phe1648Leu) c.1647T>G (p.Phe549Leu) c.5148T>G (p.Phe1716Leu) c.1472T>G c.1659T>G (p.Phe553Leu) c.*4868T>G (n.*4868T>G) c.1398T>G (p.Phe466Leu) c.15T>G (p.Phe5Leu) c.558T>G (p.Phe186Leu) c.-98-13751T>G (n.-98-13751T>G) n.5221T>G n.5262T>G | ClinVar dbSNP |
17 | g.43063941A>G | CA500146214 | BRCA1 | c.5082T>C (p.Phe1694=) c.5085T>C (p.Phe1695=) c.4959T>C (p.Phe1653=) c.5079T>C (p.Phe1693=) c.5007T>C (p.Phe1669=) c.1773T>C (p.Phe591=) c.1635T>C (p.Phe545=) c.4197T>C (p.Phe1399=) c.4962T>C (p.Phe1654=) c.5151T>C (p.Phe1717=) c.4944T>C (p.Phe1648=) c.1647T>C (p.Phe549=) c.5148T>C (p.Phe1716=) c.1472T>C c.1659T>C (p.Phe553=) c.*4868T>C (n.*4868T>C) c.1398T>C (p.Phe466=) c.15T>C (p.Phe5=) c.558T>C (p.Phe186=) c.-98-13751T>C (n.-98-13751T>C) n.5221T>C n.5262T>C | ClinVar dbSNP |
17 | g.43063941A>T | CA003223 | BRCA1 | c.5082T>A (p.Phe1694Leu) c.5085T>A (p.Phe1695Leu) c.4959T>A (p.Phe1653Leu) c.5079T>A (p.Phe1693Leu) c.5007T>A (p.Phe1669Leu) c.1773T>A (p.Phe591Leu) c.1635T>A (p.Phe545Leu) c.4197T>A (p.Phe1399Leu) c.4962T>A (p.Phe1654Leu) c.5151T>A (p.Phe1717Leu) c.4944T>A (p.Phe1648Leu) c.1647T>A (p.Phe549Leu) c.5148T>A (p.Phe1716Leu) c.1472T>A c.1659T>A (p.Phe553Leu) c.*4868T>A (n.*4868T>A) c.1398T>A (p.Phe466Leu) c.15T>A (p.Phe5Leu) c.558T>A (p.Phe186Leu) c.-98-13751T>A (n.-98-13751T>A) n.5221T>A n.5262T>A | ClinVar dbSNP gnomAD v2 |
17 | g.43063943dup | CA919844108 | BRCA1 | c.5082dup (p.Val1695CysfsTer3) c.5085dup (p.Val1696CysfsTer3) c.4959dup (p.Val1654CysfsTer3) c.5079dup (p.Val1694CysfsTer3) c.5007dup (p.Val1670CysfsTer3) c.1773dup (p.Val592CysfsTer3) c.1635dup (p.Val546CysfsTer3) c.4197dup (p.Val1400CysfsTer3) c.4962dup (p.Val1655CysfsTer3) c.5151dup (p.Val1718CysfsTer3) c.4944dup (p.Val1649CysfsTer3) c.1647dup (p.Val550CysfsTer3) c.5148dup (p.Val1717CysfsTer3) c.1472dup c.1659dup (p.Val554CysfsTer3) c.*4868dup (n.*4868dup) c.1398dup (p.Val467CysfsTer3) c.15dup (p.Val6CysfsTer3) c.558dup (p.Val187CysfsTer3) c.-98-13751dup (n.-98-13751dup) n.5221dup n.5262dup | dbSNP |
17 | g.43063942_43063943del | CA003222 | BRCA1 | c.5081_5082del (p.Phe1694CysfsTer3) c.5084_5085del (p.Phe1695CysfsTer3) c.4958_4959del (p.Phe1653CysfsTer3) c.5078_5079del (p.Phe1693CysfsTer3) c.5006_5007del (p.Phe1669CysfsTer3) c.1772_1773del (p.Phe591CysfsTer3) c.1634_1635del (p.Phe545CysfsTer3) c.4196_4197del (p.Phe1399CysfsTer3) c.4961_4962del (p.Phe1654CysfsTer3) c.5150_5151del (p.Phe1717CysfsTer3) c.4943_4944del (p.Phe1648CysfsTer3) c.1646_1647del (p.Phe549CysfsTer3) c.5147_5148del (p.Phe1716CysfsTer3) c.1471_1472del c.1658_1659del (p.Phe553CysfsTer3) c.*4867_*4868del (n.*4867_*4868del) c.1397_1398del (p.Phe466CysfsTer3) c.14_15del (p.Phe5CysfsTer3) c.557_558del (p.Phe186CysfsTer3) c.-98-13752_-98-13751del (n.-98-13752_-98-13751del) n.5220_5221del n.5261_5262del | ClinVar dbSNP gnomAD v4 |
17 | g.43063941_43063942insC | CA658824723 | BRCA1 | c.5081_5082insG (p.Phe1694LeufsTer4) c.5084_5085insG (p.Phe1695LeufsTer4) c.4958_4959insG (p.Phe1653LeufsTer4) c.5078_5079insG (p.Phe1693LeufsTer4) c.5006_5007insG (p.Phe1669LeufsTer4) c.1772_1773insG (p.Phe591LeufsTer4) c.1634_1635insG (p.Phe545LeufsTer4) c.4196_4197insG (p.Phe1399LeufsTer4) c.4961_4962insG (p.Phe1654LeufsTer4) c.5150_5151insG (p.Phe1717LeufsTer4) c.4943_4944insG (p.Phe1648LeufsTer4) c.1646_1647insG (p.Phe549LeufsTer4) c.5147_5148insG (p.Phe1716LeufsTer4) c.1471_1472insG c.1658_1659insG (p.Phe553LeufsTer4) c.*4867_*4868insG (n.*4867_*4868insG) c.1397_1398insG (p.Phe466LeufsTer4) c.14_15insG (p.Phe5LeufsTer4) c.557_558insG (p.Phe186LeufsTer4) c.-98-13752_-98-13751insG (n.-98-13752_-98-13751insG) n.5220_5221insG n.5261_5262insG | ClinVar dbSNP |
17 | g.43063942A= | CA2260769573 | BRCA1 | c.5081T= (p.Phe1694=) c.5084T= (p.Phe1695=) c.4958T= (p.Phe1653=) c.5078T= (p.Phe1693=) c.5006T= (p.Phe1669=) c.1772T= (p.Phe591=) c.1634T= (p.Phe545=) c.4196T= (p.Phe1399=) c.4961T= (p.Phe1654=) c.5150T= (p.Phe1717=) c.4943T= (p.Phe1648=) c.1646T= (p.Phe549=) c.5147T= (p.Phe1716=) c.1471T= c.1658T= (p.Phe553=) c.*4867T= (n.*4867T=) c.1397T= (p.Phe466=) c.14T= (p.Phe5=) c.557T= (p.Phe186=) c.-98-13752T= (n.-98-13752T=) n.5220T= n.5261T= | |
17 | g.43063942A>C | CA10591352 | BRCA1 | c.5081T>G (p.Phe1694Cys) c.5084T>G (p.Phe1695Cys) c.4958T>G (p.Phe1653Cys) c.5078T>G (p.Phe1693Cys) c.5006T>G (p.Phe1669Cys) c.1772T>G (p.Phe591Cys) c.1634T>G (p.Phe545Cys) c.4196T>G (p.Phe1399Cys) c.4961T>G (p.Phe1654Cys) c.5150T>G (p.Phe1717Cys) c.4943T>G (p.Phe1648Cys) c.1646T>G (p.Phe549Cys) c.5147T>G (p.Phe1716Cys) c.1471T>G c.1658T>G (p.Phe553Cys) c.*4867T>G (n.*4867T>G) c.1397T>G (p.Phe466Cys) c.14T>G (p.Phe5Cys) c.557T>G (p.Phe186Cys) c.-98-13752T>G (n.-98-13752T>G) n.5220T>G n.5261T>G | ClinVar dbSNP |
17 | g.43063942A>G | CA10591353 | BRCA1 | c.5081T>C (p.Phe1694Ser) c.5084T>C (p.Phe1695Ser) c.4958T>C (p.Phe1653Ser) c.5078T>C (p.Phe1693Ser) c.5006T>C (p.Phe1669Ser) c.1772T>C (p.Phe591Ser) c.1634T>C (p.Phe545Ser) c.4196T>C (p.Phe1399Ser) c.4961T>C (p.Phe1654Ser) c.5150T>C (p.Phe1717Ser) c.4943T>C (p.Phe1648Ser) c.1646T>C (p.Phe549Ser) c.5147T>C (p.Phe1716Ser) c.1471T>C c.1658T>C (p.Phe553Ser) c.*4867T>C (n.*4867T>C) c.1397T>C (p.Phe466Ser) c.14T>C (p.Phe5Ser) c.557T>C (p.Phe186Ser) c.-98-13752T>C (n.-98-13752T>C) n.5220T>C n.5261T>C | ClinVar dbSNP |
17 | g.43063942A>T | CA10591354 | BRCA1 | c.5081T>A (p.Phe1694Tyr) c.5084T>A (p.Phe1695Tyr) c.4958T>A (p.Phe1653Tyr) c.5078T>A (p.Phe1693Tyr) c.5006T>A (p.Phe1669Tyr) c.1772T>A (p.Phe591Tyr) c.1634T>A (p.Phe545Tyr) c.4196T>A (p.Phe1399Tyr) c.4961T>A (p.Phe1654Tyr) c.5150T>A (p.Phe1717Tyr) c.4943T>A (p.Phe1648Tyr) c.1646T>A (p.Phe549Tyr) c.5147T>A (p.Phe1716Tyr) c.1471T>A c.1658T>A (p.Phe553Tyr) c.*4867T>A (n.*4867T>A) c.1397T>A (p.Phe466Tyr) c.14T>A (p.Phe5Tyr) c.557T>A (p.Phe186Tyr) c.-98-13752T>A (n.-98-13752T>A) n.5220T>A n.5261T>A | ClinVar dbSNP |
17 | g.43063942_43063943insC | CA10589619 | BRCA1 | c.5080_5081insG (p.Phe1694CysfsTer4) c.5083_5084insG (p.Phe1695CysfsTer4) c.4957_4958insG (p.Phe1653CysfsTer4) c.5077_5078insG (p.Phe1693CysfsTer4) c.5005_5006insG (p.Phe1669CysfsTer4) c.1771_1772insG (p.Phe591CysfsTer4) c.1633_1634insG (p.Phe545CysfsTer4) c.4195_4196insG (p.Phe1399CysfsTer4) c.4960_4961insG (p.Phe1654CysfsTer4) c.5149_5150insG (p.Phe1717CysfsTer4) c.4942_4943insG (p.Phe1648CysfsTer4) c.1645_1646insG (p.Phe549CysfsTer4) c.5146_5147insG (p.Phe1716CysfsTer4) c.1470_1471insG c.1657_1658insG (p.Phe553CysfsTer4) c.*4866_*4867insG (n.*4866_*4867insG) c.1396_1397insG (p.Phe466CysfsTer4) c.13_14insG (p.Phe5CysfsTer4) c.556_557insG (p.Phe186CysfsTer4) c.-98-13753_-98-13752insG (n.-98-13753_-98-13752insG) n.5219_5220insG n.5260_5261insG | ClinVar dbSNP |
17 | g.43063943A= | CA2260769574 | BRCA1 | c.5080T= (p.Phe1694=) c.5083T= (p.Phe1695=) c.4957T= (p.Phe1653=) c.5077T= (p.Phe1693=) c.5005T= (p.Phe1669=) c.1771T= (p.Phe591=) c.1633T= (p.Phe545=) c.4195T= (p.Phe1399=) c.4960T= (p.Phe1654=) c.5149T= (p.Phe1717=) c.4942T= (p.Phe1648=) c.1645T= (p.Phe549=) c.5146T= (p.Phe1716=) c.1470T= c.1657T= (p.Phe553=) c.*4866T= (n.*4866T=) c.1396T= (p.Phe466=) c.13T= (p.Phe5=) c.556T= (p.Phe186=) c.-98-13753T= (n.-98-13753T=) n.5219T= n.5260T= | |
17 | g.43063943A>C | CA10591355 | BRCA1 | c.5080T>G (p.Phe1694Val) c.5083T>G (p.Phe1695Val) c.4957T>G (p.Phe1653Val) c.5077T>G (p.Phe1693Val) c.5005T>G (p.Phe1669Val) c.1771T>G (p.Phe591Val) c.1633T>G (p.Phe545Val) c.4195T>G (p.Phe1399Val) c.4960T>G (p.Phe1654Val) c.5149T>G (p.Phe1717Val) c.4942T>G (p.Phe1648Val) c.1645T>G (p.Phe549Val) c.5146T>G (p.Phe1716Val) c.1470T>G c.1657T>G (p.Phe553Val) c.*4866T>G (n.*4866T>G) c.1396T>G (p.Phe466Val) c.13T>G (p.Phe5Val) c.556T>G (p.Phe186Val) c.-98-13753T>G (n.-98-13753T>G) n.5219T>G n.5260T>G | ClinVar dbSNP |
17 | g.43063943A>G | CA10591356 | BRCA1 | c.5080T>C (p.Phe1694Leu) c.5083T>C (p.Phe1695Leu) c.4957T>C (p.Phe1653Leu) c.5077T>C (p.Phe1693Leu) c.5005T>C (p.Phe1669Leu) c.1771T>C (p.Phe591Leu) c.1633T>C (p.Phe545Leu) c.4195T>C (p.Phe1399Leu) c.4960T>C (p.Phe1654Leu) c.5149T>C (p.Phe1717Leu) c.4942T>C (p.Phe1648Leu) c.1645T>C (p.Phe549Leu) c.5146T>C (p.Phe1716Leu) c.1470T>C c.1657T>C (p.Phe553Leu) c.*4866T>C (n.*4866T>C) c.1396T>C (p.Phe466Leu) c.13T>C (p.Phe5Leu) c.556T>C (p.Phe186Leu) c.-98-13753T>C (n.-98-13753T>C) n.5219T>C n.5260T>C | ClinVar dbSNP gnomAD v4 |
17 | g.43063943A>T | CA10591357 | BRCA1 | c.5080T>A (p.Phe1694Ile) c.5083T>A (p.Phe1695Ile) c.4957T>A (p.Phe1653Ile) c.5077T>A (p.Phe1693Ile) c.5005T>A (p.Phe1669Ile) c.1771T>A (p.Phe591Ile) c.1633T>A (p.Phe545Ile) c.4195T>A (p.Phe1399Ile) c.4960T>A (p.Phe1654Ile) c.5149T>A (p.Phe1717Ile) c.4942T>A (p.Phe1648Ile) c.1645T>A (p.Phe549Ile) c.5146T>A (p.Phe1716Ile) c.1470T>A c.1657T>A (p.Phe553Ile) c.*4866T>A (n.*4866T>A) c.1396T>A (p.Phe466Ile) c.13T>A (p.Phe5Ile) c.556T>A (p.Phe186Ile) c.-98-13753T>A (n.-98-13753T>A) n.5219T>A n.5260T>A | ClinVar dbSNP |
17 | g.43063944C>A | CA10591358 | BRCA1 | c.5079G>T (p.Glu1693Asp) c.5082G>T (p.Glu1694Asp) c.4956G>T (p.Glu1652Asp) c.5076G>T (p.Glu1692Asp) c.5004G>T (p.Glu1668Asp) c.1770G>T (p.Glu590Asp) c.1632G>T (p.Glu544Asp) c.4194G>T (p.Glu1398Asp) c.4959G>T (p.Glu1653Asp) c.5148G>T (p.Glu1716Asp) c.4941G>T (p.Glu1647Asp) c.1644G>T (p.Glu548Asp) c.5145G>T (p.Glu1715Asp) c.1469G>T c.1656G>T (p.Glu552Asp) c.*4865G>T (n.*4865G>T) c.1395G>T (p.Glu465Asp) c.12G>T (p.Glu4Asp) c.555G>T (p.Glu185Asp) c.-98-13754G>T (n.-98-13754G>T) n.5218G>T n.5259G>T | ClinVar dbSNP |
17 | g.43063944C= | CA2260769575 | BRCA1 | c.5079G= (p.Glu1693=) c.5082G= (p.Glu1694=) c.4956G= (p.Glu1652=) c.5076G= (p.Glu1692=) c.5004G= (p.Glu1668=) c.1770G= (p.Glu590=) c.1632G= (p.Glu544=) c.4194G= (p.Glu1398=) c.4959G= (p.Glu1653=) c.5148G= (p.Glu1716=) c.4941G= (p.Glu1647=) c.1644G= (p.Glu548=) c.5145G= (p.Glu1715=) c.1469G= c.1656G= (p.Glu552=) c.*4865G= (n.*4865G=) c.1395G= (p.Glu465=) c.12G= (p.Glu4=) c.555G= (p.Glu185=) c.-98-13754G= (n.-98-13754G=) n.5218G= n.5259G= | |
17 | g.43063944C>G | CA10591359 | BRCA1 | c.5079G>C (p.Glu1693Asp) c.5082G>C (p.Glu1694Asp) c.4956G>C (p.Glu1652Asp) c.5076G>C (p.Glu1692Asp) c.5004G>C (p.Glu1668Asp) c.1770G>C (p.Glu590Asp) c.1632G>C (p.Glu544Asp) c.4194G>C (p.Glu1398Asp) c.4959G>C (p.Glu1653Asp) c.5148G>C (p.Glu1716Asp) c.4941G>C (p.Glu1647Asp) c.1644G>C (p.Glu548Asp) c.5145G>C (p.Glu1715Asp) c.1469G>C c.1656G>C (p.Glu552Asp) c.*4865G>C (n.*4865G>C) c.1395G>C (p.Glu465Asp) c.12G>C (p.Glu4Asp) c.555G>C (p.Glu185Asp) c.-98-13754G>C (n.-98-13754G>C) n.5218G>C n.5259G>C | ClinVar dbSNP |
17 | g.43063944C>T | CA500146215 | BRCA1 | c.5079G>A (p.Glu1693=) c.5082G>A (p.Glu1694=) c.4956G>A (p.Glu1652=) c.5076G>A (p.Glu1692=) c.5004G>A (p.Glu1668=) c.1770G>A (p.Glu590=) c.1632G>A (p.Glu544=) c.4194G>A (p.Glu1398=) c.4959G>A (p.Glu1653=) c.5148G>A (p.Glu1716=) c.4941G>A (p.Glu1647=) c.1644G>A (p.Glu548=) c.5145G>A (p.Glu1715=) c.1469G>A c.1656G>A (p.Glu552=) c.*4865G>A (n.*4865G>A) c.1395G>A (p.Glu465=) c.12G>A (p.Glu4=) c.555G>A (p.Glu185=) c.-98-13754G>A (n.-98-13754G>A) n.5218G>A n.5259G>A | ClinVar dbSNP |
17 | g.43063945T>A | CA10591360 | BRCA1 | c.5078A>T (p.Glu1693Val) c.5081A>T (p.Glu1694Val) c.4955A>T (p.Glu1652Val) c.5075A>T (p.Glu1692Val) c.5003A>T (p.Glu1668Val) c.1769A>T (p.Glu590Val) c.1631A>T (p.Glu544Val) c.4193A>T (p.Glu1398Val) c.4958A>T (p.Glu1653Val) c.5147A>T (p.Glu1716Val) c.4940A>T (p.Glu1647Val) c.1643A>T (p.Glu548Val) c.5144A>T (p.Glu1715Val) c.1468A>T c.1655A>T (p.Glu552Val) c.*4864A>T (n.*4864A>T) c.1394A>T (p.Glu465Val) c.11A>T (p.Glu4Val) c.554A>T (p.Glu185Val) c.-98-13755A>T (n.-98-13755A>T) n.5217A>T n.5258A>T | ClinVar dbSNP |
17 | g.43063945T>C | CA10591361 | BRCA1 | c.5078A>G (p.Glu1693Gly) c.5081A>G (p.Glu1694Gly) c.4955A>G (p.Glu1652Gly) c.5075A>G (p.Glu1692Gly) c.5003A>G (p.Glu1668Gly) c.1769A>G (p.Glu590Gly) c.1631A>G (p.Glu544Gly) c.4193A>G (p.Glu1398Gly) c.4958A>G (p.Glu1653Gly) c.5147A>G (p.Glu1716Gly) c.4940A>G (p.Glu1647Gly) c.1643A>G (p.Glu548Gly) c.5144A>G (p.Glu1715Gly) c.1468A>G c.1655A>G (p.Glu552Gly) c.*4864A>G (n.*4864A>G) c.1394A>G (p.Glu465Gly) c.11A>G (p.Glu4Gly) c.554A>G (p.Glu185Gly) c.-98-13755A>G (n.-98-13755A>G) n.5217A>G n.5258A>G | ClinVar dbSNP |
17 | g.43063945T>G | CA10591362 | BRCA1 | c.5078A>C (p.Glu1693Ala) c.5081A>C (p.Glu1694Ala) c.4955A>C (p.Glu1652Ala) c.5075A>C (p.Glu1692Ala) c.5003A>C (p.Glu1668Ala) c.1769A>C (p.Glu590Ala) c.1631A>C (p.Glu544Ala) c.4193A>C (p.Glu1398Ala) c.4958A>C (p.Glu1653Ala) c.5147A>C (p.Glu1716Ala) c.4940A>C (p.Glu1647Ala) c.1643A>C (p.Glu548Ala) c.5144A>C (p.Glu1715Ala) c.1468A>C c.1655A>C (p.Glu552Ala) c.*4864A>C (n.*4864A>C) c.1394A>C (p.Glu465Ala) c.11A>C (p.Glu4Ala) c.554A>C (p.Glu185Ala) c.-98-13755A>C (n.-98-13755A>C) n.5217A>C n.5258A>C | ClinVar dbSNP |
17 | g.43063945T= | CA2260769577 | BRCA1 | c.5078A= (p.Glu1693=) c.5081A= (p.Glu1694=) c.4955A= (p.Glu1652=) c.5075A= (p.Glu1692=) c.5003A= (p.Glu1668=) c.1769A= (p.Glu590=) c.1631A= (p.Glu544=) c.4193A= (p.Glu1398=) c.4958A= (p.Glu1653=) c.5147A= (p.Glu1716=) c.4940A= (p.Glu1647=) c.1643A= (p.Glu548=) c.5144A= (p.Glu1715=) c.1468A= c.1655A= (p.Glu552=) c.*4864A= (n.*4864A=) c.1394A= (p.Glu465=) c.11A= (p.Glu4=) c.554A= (p.Glu185=) c.-98-13755A= (n.-98-13755A=) n.5217A= n.5258A= | |
17 | g.43063945_43063946delinsTC | CA2260769578 | BRCA1 | c.5077_5078delinsGA (p.Glu1693=) c.5080_5081delinsGA (p.Glu1694=) c.4954_4955delinsGA (p.Glu1652=) c.5074_5075delinsGA (p.Glu1692=) c.5002_5003delinsGA (p.Glu1668=) c.1768_1769delinsGA (p.Glu590=) c.1630_1631delinsGA (p.Glu544=) c.4192_4193delinsGA (p.Glu1398=) c.4957_4958delinsGA (p.Glu1653=) c.5146_5147delinsGA (p.Glu1716=) c.4939_4940delinsGA (p.Glu1647=) c.1642_1643delinsGA (p.Glu548=) c.5143_5144delinsGA (p.Glu1715=) c.1467_1468delinsGA c.1654_1655delinsGA (p.Glu552=) c.*4863_*4864delinsGA (n.*4863_*4864delinsGA) c.1393_1394delinsGA (p.Glu465=) c.10_11delinsGA (p.Glu4=) c.553_554delinsGA (p.Glu185=) c.-98-13756_-98-13755delinsGA (n.-98-13756_-98-13755delinsGA) n.5216_5217delinsGA n.5257_5258delinsGA | |
17 | g.43063945_43063948delinsTCAG | CA2260769579 | BRCA1 | c.5075_5078delinsCTGA (p.Ala1692=) c.5078_5081delinsCTGA (p.Ala1693=) c.4952_4955delinsCTGA (p.Ala1651=) c.5072_5075delinsCTGA (p.Ala1691=) c.5000_5003delinsCTGA (p.Ala1667=) c.1766_1769delinsCTGA (p.Ala589=) c.1628_1631delinsCTGA (p.Ala543=) c.4190_4193delinsCTGA (p.Ala1397=) c.4955_4958delinsCTGA (p.Ala1652=) c.5144_5147delinsCTGA (p.Ala1715=) c.4937_4940delinsCTGA (p.Ala1646=) c.1640_1643delinsCTGA (p.Ala547=) c.5141_5144delinsCTGA (p.Ala1714=) c.1465_1468delinsCTGA c.1652_1655delinsCTGA (p.Ala551=) c.*4861_*4864delinsCTGA (n.*4861_*4864delinsCTGA) c.1391_1394delinsCTGA (p.Ala464=) c.8_11delinsCTGA (p.Ala3=) c.551_554delinsCTGA (p.Ala184=) c.-98-13758_-98-13755delinsCTGA (n.-98-13758_-98-13755delinsCTGA) n.5214_5217delinsCTGA n.5255_5258delinsCTGA | |
17 | g.43063945_43063949delinsTCAGC | CA2260769576 | BRCA1 | c.5074_5078delinsGCTGA (p.Ala1692=) c.5077_5081delinsGCTGA (p.Ala1693=) c.4951_4955delinsGCTGA (p.Ala1651=) c.5071_5075delinsGCTGA (p.Ala1691=) c.4999_5003delinsGCTGA (p.Ala1667=) c.1765_1769delinsGCTGA (p.Ala589=) c.1627_1631delinsGCTGA (p.Ala543=) c.4189_4193delinsGCTGA (p.Ala1397=) c.4954_4958delinsGCTGA (p.Ala1652=) c.5143_5147delinsGCTGA (p.Ala1715=) c.4936_4940delinsGCTGA (p.Ala1646=) c.1639_1643delinsGCTGA (p.Ala547=) c.5140_5144delinsGCTGA (p.Ala1714=) c.1464_1468delinsGCTGA c.1651_1655delinsGCTGA (p.Ala551=) c.*4860_*4864delinsGCTGA (n.*4860_*4864delinsGCTGA) c.1390_1394delinsGCTGA (p.Ala464=) c.7_11delinsGCTGA (p.Ala3=) c.550_554delinsGCTGA (p.Ala184=) c.-98-13759_-98-13755delinsGCTGA (n.-98-13759_-98-13755delinsGCTGA) n.5213_5217delinsGCTGA n.5254_5258delinsGCTGA | |
17 | g.43063946del | CA658656679 | BRCA1 | c.5077del (p.Glu1693SerfsTer8) c.5080del (p.Glu1694SerfsTer8) c.4954del (p.Glu1652SerfsTer8) c.5074del (p.Glu1692SerfsTer8) c.5002del (p.Glu1668SerfsTer8) c.1768del (p.Glu590SerfsTer8) c.1630del (p.Glu544SerfsTer8) c.4192del (p.Glu1398SerfsTer8) c.4957del (p.Glu1653SerfsTer8) c.5146del (p.Glu1716SerfsTer8) c.4939del (p.Glu1647SerfsTer8) c.1642del (p.Glu548SerfsTer8) c.5143del (p.Glu1715SerfsTer8) c.1467del c.1654del (p.Glu552SerfsTer8) c.*4863del (n.*4863del) c.1393del (p.Glu465SerfsTer8) c.10del (p.Glu4SerfsTer8) c.553del (p.Glu185SerfsTer8) c.-98-13756del (n.-98-13756del) n.5216del n.5257del | ClinVar dbSNP |
17 | g.43063946C>A | CA003221 | BRCA1 | c.5077G>T (p.Glu1693Ter) c.5080G>T (p.Glu1694Ter) c.4954G>T (p.Glu1652Ter) c.5074G>T (p.Glu1692Ter) c.5002G>T (p.Glu1668Ter) c.1768G>T (p.Glu590Ter) c.1630G>T (p.Glu544Ter) c.4192G>T (p.Glu1398Ter) c.4957G>T (p.Glu1653Ter) c.5146G>T (p.Glu1716Ter) c.4939G>T (p.Glu1647Ter) c.1642G>T (p.Glu548Ter) c.5143G>T (p.Glu1715Ter) c.1467G>T c.1654G>T (p.Glu552Ter) c.*4863G>T (n.*4863G>T) c.1393G>T (p.Glu465Ter) c.10G>T (p.Glu4Ter) c.553G>T (p.Glu185Ter) c.-98-13756G>T (n.-98-13756G>T) n.5216G>T n.5257G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.43063946C= | CA2260769580 | BRCA1 | c.5077G= (p.Glu1693=) c.5080G= (p.Glu1694=) c.4954G= (p.Glu1652=) c.5074G= (p.Glu1692=) c.5002G= (p.Glu1668=) c.1768G= (p.Glu590=) c.1630G= (p.Glu544=) c.4192G= (p.Glu1398=) c.4957G= (p.Glu1653=) c.5146G= (p.Glu1716=) c.4939G= (p.Glu1647=) c.1642G= (p.Glu548=) c.5143G= (p.Glu1715=) c.1467G= c.1654G= (p.Glu552=) c.*4863G= (n.*4863G=) c.1393G= (p.Glu465=) c.10G= (p.Glu4=) c.553G= (p.Glu185=) c.-98-13756G= (n.-98-13756G=) n.5216G= n.5257G= | |
17 | g.43063946C>G | CA10591363 | BRCA1 | c.5077G>C (p.Glu1693Gln) c.5080G>C (p.Glu1694Gln) c.4954G>C (p.Glu1652Gln) c.5074G>C (p.Glu1692Gln) c.5002G>C (p.Glu1668Gln) c.1768G>C (p.Glu590Gln) c.1630G>C (p.Glu544Gln) c.4192G>C (p.Glu1398Gln) c.4957G>C (p.Glu1653Gln) c.5146G>C (p.Glu1716Gln) c.4939G>C (p.Glu1647Gln) c.1642G>C (p.Glu548Gln) c.5143G>C (p.Glu1715Gln) c.1467G>C c.1654G>C (p.Glu552Gln) c.*4863G>C (n.*4863G>C) c.1393G>C (p.Glu465Gln) c.10G>C (p.Glu4Gln) c.553G>C (p.Glu185Gln) c.-98-13756G>C (n.-98-13756G>C) n.5216G>C n.5257G>C | ClinVar dbSNP |
17 | g.43063946C>T | CA10591364 | BRCA1 | c.5077G>A (p.Glu1693Lys) c.5080G>A (p.Glu1694Lys) c.4954G>A (p.Glu1652Lys) c.5074G>A (p.Glu1692Lys) c.5002G>A (p.Glu1668Lys) c.1768G>A (p.Glu590Lys) c.1630G>A (p.Glu544Lys) c.4192G>A (p.Glu1398Lys) c.4957G>A (p.Glu1653Lys) c.5146G>A (p.Glu1716Lys) c.4939G>A (p.Glu1647Lys) c.1642G>A (p.Glu548Lys) c.5143G>A (p.Glu1715Lys) c.1467G>A c.1654G>A (p.Glu552Lys) c.*4863G>A (n.*4863G>A) c.1393G>A (p.Glu465Lys) c.10G>A (p.Glu4Lys) c.553G>A (p.Glu185Lys) c.-98-13756G>A (n.-98-13756G>A) n.5216G>A n.5257G>A | ClinVar dbSNP |
17 | g.43063946_43063949delinsGCAGAATCAA | CA10602579 | BRCA1 | c.5074_5077delinsTTGATTCTGC (p.Ala1692_Glu1693delinsLeuIleLeuGln) c.5077_5080delinsTTGATTCTGC (p.Ala1693_Glu1694delinsLeuIleLeuGln) c.4951_4954delinsTTGATTCTGC (p.Ala1651_Glu1652delinsLeuIleLeuGln) c.5071_5074delinsTTGATTCTGC (p.Ala1691_Glu1692delinsLeuIleLeuGln) c.4999_5002delinsTTGATTCTGC (p.Ala1667_Glu1668delinsLeuIleLeuGln) c.1765_1768delinsTTGATTCTGC (p.Ala589_Glu590delinsLeuIleLeuGln) c.1627_1630delinsTTGATTCTGC (p.Ala543_Glu544delinsLeuIleLeuGln) c.4189_4192delinsTTGATTCTGC (p.Ala1397_Glu1398delinsLeuIleLeuGln) c.4954_4957delinsTTGATTCTGC (p.Ala1652_Glu1653delinsLeuIleLeuGln) c.5143_5146delinsTTGATTCTGC (p.Ala1715_Glu1716delinsLeuIleLeuGln) c.4936_4939delinsTTGATTCTGC (p.Ala1646_Glu1647delinsLeuIleLeuGln) c.1639_1642delinsTTGATTCTGC (p.Ala547_Glu548delinsLeuIleLeuGln) c.5140_5143delinsTTGATTCTGC (p.Ala1714_Glu1715delinsLeuIleLeuGln) c.1464_1467delinsTTGATTCTGC c.1651_1654delinsTTGATTCTGC (p.Ala551_Glu552delinsLeuIleLeuGln) c.*4860_*4863delinsTTGATTCTGC (n.*4860_*4863delinsTTGATTCTGC) c.1390_1393delinsTTGATTCTGC (p.Ala464_Glu465delinsLeuIleLeuGln) c.7_10delinsTTGATTCTGC (p.Ala3_Glu4delinsLeuIleLeuGln) c.550_553delinsTTGATTCTGC (p.Ala184_Glu185delinsLeuIleLeuGln) c.-98-13759_-98-13756delinsTTGATTCTGC (n.-98-13759_-98-13756delinsTTGATTCTGC) n.5213_5216delinsTTGATTCTGC n.5254_5257delinsTTGATTCTGC | ClinVar dbSNP |
17 | g.43063946_43063949delinsGCAGAATGAA | CA003218 | BRCA1 | c.5074_5077delinsTTCATTCTGC (p.Ala1692_Glu1693delinsPheIleLeuGln) c.5077_5080delinsTTCATTCTGC (p.Ala1693_Glu1694delinsPheIleLeuGln) c.4951_4954delinsTTCATTCTGC (p.Ala1651_Glu1652delinsPheIleLeuGln) c.5071_5074delinsTTCATTCTGC (p.Ala1691_Glu1692delinsPheIleLeuGln) c.4999_5002delinsTTCATTCTGC (p.Ala1667_Glu1668delinsPheIleLeuGln) c.1765_1768delinsTTCATTCTGC (p.Ala589_Glu590delinsPheIleLeuGln) c.1627_1630delinsTTCATTCTGC (p.Ala543_Glu544delinsPheIleLeuGln) c.4189_4192delinsTTCATTCTGC (p.Ala1397_Glu1398delinsPheIleLeuGln) c.4954_4957delinsTTCATTCTGC (p.Ala1652_Glu1653delinsPheIleLeuGln) c.5143_5146delinsTTCATTCTGC (p.Ala1715_Glu1716delinsPheIleLeuGln) c.4936_4939delinsTTCATTCTGC (p.Ala1646_Glu1647delinsPheIleLeuGln) c.1639_1642delinsTTCATTCTGC (p.Ala547_Glu548delinsPheIleLeuGln) c.5140_5143delinsTTCATTCTGC (p.Ala1714_Glu1715delinsPheIleLeuGln) c.1464_1467delinsTTCATTCTGC c.1651_1654delinsTTCATTCTGC (p.Ala551_Glu552delinsPheIleLeuGln) c.*4860_*4863delinsTTCATTCTGC (n.*4860_*4863delinsTTCATTCTGC) c.1390_1393delinsTTCATTCTGC (p.Ala464_Glu465delinsPheIleLeuGln) c.7_10delinsTTCATTCTGC (p.Ala3_Glu4delinsPheIleLeuGln) c.550_553delinsTTCATTCTGC (p.Ala184_Glu185delinsPheIleLeuGln) c.-98-13759_-98-13756delinsTTCATTCTGC (n.-98-13759_-98-13756delinsTTCATTCTGC) n.5213_5216delinsTTCATTCTGC n.5254_5257delinsTTCATTCTGC | ClinVar dbSNP |
17 | g.43063948_43063950del | CA003219 | BRCA1 | c.5075_5077del (p.Ala1692del) c.5078_5080del (p.Ala1693del) c.4952_4954del (p.Ala1651del) c.5072_5074del (p.Ala1691del) c.5000_5002del (p.Ala1667del) c.1766_1768del (p.Ala589del) c.1628_1630del (p.Ala543del) c.4190_4192del (p.Ala1397del) c.4955_4957del (p.Ala1652del) c.5144_5146del (p.Ala1715del) c.4937_4939del (p.Ala1646del) c.1640_1642del (p.Ala547del) c.5141_5143del (p.Ala1714del) c.1465_1467del c.1652_1654del (p.Ala551del) c.*4861_*4863del (n.*4861_*4863del) c.1391_1393del (p.Ala464del) c.8_10del (p.Ala3del) c.551_553del (p.Ala184del) c.-98-13758_-98-13756del (n.-98-13758_-98-13756del) n.5214_5216del n.5255_5257del | ClinVar dbSNP |
17 | g.43063947A= | CA2260769582 | BRCA1 | c.5076T= (p.Ala1692=) c.5079T= (p.Ala1693=) c.4953T= (p.Ala1651=) c.5073T= (p.Ala1691=) c.5001T= (p.Ala1667=) c.1767T= (p.Ala589=) c.1629T= (p.Ala543=) c.4191T= (p.Ala1397=) c.4956T= (p.Ala1652=) c.5145T= (p.Ala1715=) c.4938T= (p.Ala1646=) c.1641T= (p.Ala547=) c.5142T= (p.Ala1714=) c.1466T= c.1653T= (p.Ala551=) c.*4862T= (n.*4862T=) c.1392T= (p.Ala464=) c.9T= (p.Ala3=) c.552T= (p.Ala184=) c.-98-13757T= (n.-98-13757T=) n.5215T= n.5256T= | |
17 | g.43063947A>C | CA500146216 | BRCA1 | c.5076T>G (p.Ala1692=) c.5079T>G (p.Ala1693=) c.4953T>G (p.Ala1651=) c.5073T>G (p.Ala1691=) c.5001T>G (p.Ala1667=) c.1767T>G (p.Ala589=) c.1629T>G (p.Ala543=) c.4191T>G (p.Ala1397=) c.4956T>G (p.Ala1652=) c.5145T>G (p.Ala1715=) c.4938T>G (p.Ala1646=) c.1641T>G (p.Ala547=) c.5142T>G (p.Ala1714=) c.1466T>G c.1653T>G (p.Ala551=) c.*4862T>G (n.*4862T>G) c.1392T>G (p.Ala464=) c.9T>G (p.Ala3=) c.552T>G (p.Ala184=) c.-98-13757T>G (n.-98-13757T>G) n.5215T>G n.5256T>G | ClinVar dbSNP |
17 | g.43063947A>G | CA500146217 | BRCA1 | c.5076T>C (p.Ala1692=) c.5079T>C (p.Ala1693=) c.4953T>C (p.Ala1651=) c.5073T>C (p.Ala1691=) c.5001T>C (p.Ala1667=) c.1767T>C (p.Ala589=) c.1629T>C (p.Ala543=) c.4191T>C (p.Ala1397=) c.4956T>C (p.Ala1652=) c.5145T>C (p.Ala1715=) c.4938T>C (p.Ala1646=) c.1641T>C (p.Ala547=) c.5142T>C (p.Ala1714=) c.1466T>C c.1653T>C (p.Ala551=) c.*4862T>C (n.*4862T>C) c.1392T>C (p.Ala464=) c.9T>C (p.Ala3=) c.552T>C (p.Ala184=) c.-98-13757T>C (n.-98-13757T>C) n.5215T>C n.5256T>C | ClinVar dbSNP gnomAD v4 |
17 | g.43063947A>T | CA500146218 | BRCA1 | c.5076T>A (p.Ala1692=) c.5079T>A (p.Ala1693=) c.4953T>A (p.Ala1651=) c.5073T>A (p.Ala1691=) c.5001T>A (p.Ala1667=) c.1767T>A (p.Ala589=) c.1629T>A (p.Ala543=) c.4191T>A (p.Ala1397=) c.4956T>A (p.Ala1652=) c.5145T>A (p.Ala1715=) c.4938T>A (p.Ala1646=) c.1641T>A (p.Ala547=) c.5142T>A (p.Ala1714=) c.1466T>A c.1653T>A (p.Ala551=) c.*4862T>A (n.*4862T>A) c.1392T>A (p.Ala464=) c.9T>A (p.Ala3=) c.552T>A (p.Ala184=) c.-98-13757T>A (n.-98-13757T>A) n.5215T>A n.5256T>A | ClinVar dbSNP |
17 | g.43063947_43063951delinsAGCAT | CA2260769581 | BRCA1 | c.5072_5076delinsATGCT (p.Asp1691=) c.5075_5079delinsATGCT (p.Asp1692=) c.4949_4953delinsATGCT (p.Asp1650=) c.5069_5073delinsATGCT (p.Asp1690=) c.4997_5001delinsATGCT (p.Asp1666=) c.1763_1767delinsATGCT (p.Asp588=) c.1625_1629delinsATGCT (p.Asp542=) c.4187_4191delinsATGCT (p.Asp1396=) c.4952_4956delinsATGCT (p.Asp1651=) c.5141_5145delinsATGCT (p.Asp1714=) c.4934_4938delinsATGCT (p.Asp1645=) c.1637_1641delinsATGCT (p.Asp546=) c.5138_5142delinsATGCT (p.Asp1713=) c.1462_1466delinsATGCT c.1649_1653delinsATGCT (p.Asp550=) c.*4858_*4862delinsATGCT (n.*4858_*4862delinsATGCT) c.1388_1392delinsATGCT (p.Asp463=) c.5_9delinsATGCT (p.Asp2=) c.548_552delinsATGCT (p.Asp183=) c.-98-13761_-98-13757delinsATGCT (n.-98-13761_-98-13757delinsATGCT) n.5211_5215delinsATGCT n.5252_5256delinsATGCT | |
17 | g.43063948G>A | CA10591365 | BRCA1 | c.5075C>T (p.Ala1692Val) c.5078C>T (p.Ala1693Val) c.4952C>T (p.Ala1651Val) c.5072C>T (p.Ala1691Val) c.5000C>T (p.Ala1667Val) c.1766C>T (p.Ala589Val) c.1628C>T (p.Ala543Val) c.4190C>T (p.Ala1397Val) c.4955C>T (p.Ala1652Val) c.5144C>T (p.Ala1715Val) c.4937C>T (p.Ala1646Val) c.1640C>T (p.Ala547Val) c.5141C>T (p.Ala1714Val) c.1465C>T c.1652C>T (p.Ala551Val) c.*4861C>T (n.*4861C>T) c.1391C>T (p.Ala464Val) c.8C>T (p.Ala3Val) c.551C>T (p.Ala184Val) c.-98-13758C>T (n.-98-13758C>T) n.5214C>T n.5255C>T | ClinVar dbSNP |
17 | g.43063948G>C | CA10591366 | BRCA1 | c.5075C>G (p.Ala1692Gly) c.5078C>G (p.Ala1693Gly) c.4952C>G (p.Ala1651Gly) c.5072C>G (p.Ala1691Gly) c.5000C>G (p.Ala1667Gly) c.1766C>G (p.Ala589Gly) c.1628C>G (p.Ala543Gly) c.4190C>G (p.Ala1397Gly) c.4955C>G (p.Ala1652Gly) c.5144C>G (p.Ala1715Gly) c.4937C>G (p.Ala1646Gly) c.1640C>G (p.Ala547Gly) c.5141C>G (p.Ala1714Gly) c.1465C>G c.1652C>G (p.Ala551Gly) c.*4861C>G (n.*4861C>G) c.1391C>G (p.Ala464Gly) c.8C>G (p.Ala3Gly) c.551C>G (p.Ala184Gly) c.-98-13758C>G (n.-98-13758C>G) n.5214C>G n.5255C>G | ClinVar dbSNP gnomAD v4 |
17 | g.43063948G= | CA2260769583 | BRCA1 | c.5075C= (p.Ala1692=) c.5078C= (p.Ala1693=) c.4952C= (p.Ala1651=) c.5072C= (p.Ala1691=) c.5000C= (p.Ala1667=) c.1766C= (p.Ala589=) c.1628C= (p.Ala543=) c.4190C= (p.Ala1397=) c.4955C= (p.Ala1652=) c.5144C= (p.Ala1715=) c.4937C= (p.Ala1646=) c.1640C= (p.Ala547=) c.5141C= (p.Ala1714=) c.1465C= c.1652C= (p.Ala551=) c.*4861C= (n.*4861C=) c.1391C= (p.Ala464=) c.8C= (p.Ala3=) c.551C= (p.Ala184=) c.-98-13758C= (n.-98-13758C=) n.5214C= n.5255C= | |
17 | g.43063948G>T | CA10591367 | BRCA1 | c.5075C>A (p.Ala1692Asp) c.5078C>A (p.Ala1693Asp) c.4952C>A (p.Ala1651Asp) c.5072C>A (p.Ala1691Asp) c.5000C>A (p.Ala1667Asp) c.1766C>A (p.Ala589Asp) c.1628C>A (p.Ala543Asp) c.4190C>A (p.Ala1397Asp) c.4955C>A (p.Ala1652Asp) c.5144C>A (p.Ala1715Asp) c.4937C>A (p.Ala1646Asp) c.1640C>A (p.Ala547Asp) c.5141C>A (p.Ala1714Asp) c.1465C>A c.1652C>A (p.Ala551Asp) c.*4861C>A (n.*4861C>A) c.1391C>A (p.Ala464Asp) c.8C>A (p.Ala3Asp) c.551C>A (p.Ala184Asp) c.-98-13758C>A (n.-98-13758C>A) n.5214C>A n.5255C>A | ClinVar dbSNP |
17 | g.43063948_43063951del | CA003211 | BRCA1 | c.5072_5075del (p.Asp1691ValfsTer9) c.5075_5078del (p.Asp1692ValfsTer9) c.4949_4952del (p.Asp1650ValfsTer9) c.5069_5072del (p.Asp1690ValfsTer9) c.4997_5000del (p.Asp1666ValfsTer9) c.1763_1766del (p.Asp588ValfsTer9) c.1625_1628del (p.Asp542ValfsTer9) c.4187_4190del (p.Asp1396ValfsTer9) c.4952_4955del (p.Asp1651ValfsTer9) c.5141_5144del (p.Asp1714ValfsTer9) c.4934_4937del (p.Asp1645ValfsTer9) c.1637_1640del (p.Asp546ValfsTer9) c.5138_5141del (p.Asp1713ValfsTer9) c.1462_1465del c.1649_1652del (p.Asp550ValfsTer9) c.*4858_*4861del (n.*4858_*4861del) c.1388_1391del (p.Asp463ValfsTer9) c.5_8del (p.Asp2ValfsTer9) c.548_551del (p.Asp183ValfsTer9) c.-98-13761_-98-13758del (n.-98-13761_-98-13758del) n.5211_5214del n.5252_5255del | ClinVar dbSNP |
17 | g.43063949C>A | CA10591368 | BRCA1 | c.5074G>T (p.Ala1692Ser) c.5077G>T (p.Ala1693Ser) c.4951G>T (p.Ala1651Ser) c.5071G>T (p.Ala1691Ser) c.4999G>T (p.Ala1667Ser) c.1765G>T (p.Ala589Ser) c.1627G>T (p.Ala543Ser) c.4189G>T (p.Ala1397Ser) c.4954G>T (p.Ala1652Ser) c.5143G>T (p.Ala1715Ser) c.4936G>T (p.Ala1646Ser) c.1639G>T (p.Ala547Ser) c.5140G>T (p.Ala1714Ser) c.1464G>T c.1651G>T (p.Ala551Ser) c.*4860G>T (n.*4860G>T) c.1390G>T (p.Ala464Ser) c.7G>T (p.Ala3Ser) c.550G>T (p.Ala184Ser) c.-98-13759G>T (n.-98-13759G>T) n.5213G>T n.5254G>T | ClinVar dbSNP |
17 | g.43063949C= | CA2260769585 | BRCA1 | c.5074G= (p.Ala1692=) c.5077G= (p.Ala1693=) c.4951G= (p.Ala1651=) c.5071G= (p.Ala1691=) c.4999G= (p.Ala1667=) c.1765G= (p.Ala589=) c.1627G= (p.Ala543=) c.4189G= (p.Ala1397=) c.4954G= (p.Ala1652=) c.5143G= (p.Ala1715=) c.4936G= (p.Ala1646=) c.1639G= (p.Ala547=) c.5140G= (p.Ala1714=) c.1464G= c.1651G= (p.Ala551=) c.*4860G= (n.*4860G=) c.1390G= (p.Ala464=) c.7G= (p.Ala3=) c.550G= (p.Ala184=) c.-98-13759G= (n.-98-13759G=) n.5213G= n.5254G= | |
17 | g.43063949C>G | CA10591369 | BRCA1 | c.5074G>C (p.Ala1692Pro) c.5077G>C (p.Ala1693Pro) c.4951G>C (p.Ala1651Pro) c.5071G>C (p.Ala1691Pro) c.4999G>C (p.Ala1667Pro) c.1765G>C (p.Ala589Pro) c.1627G>C (p.Ala543Pro) c.4189G>C (p.Ala1397Pro) c.4954G>C (p.Ala1652Pro) c.5143G>C (p.Ala1715Pro) c.4936G>C (p.Ala1646Pro) c.1639G>C (p.Ala547Pro) c.5140G>C (p.Ala1714Pro) c.1464G>C c.1651G>C (p.Ala551Pro) c.*4860G>C (n.*4860G>C) c.1390G>C (p.Ala464Pro) c.7G>C (p.Ala3Pro) c.550G>C (p.Ala184Pro) c.-98-13759G>C (n.-98-13759G>C) n.5213G>C n.5254G>C | ClinVar dbSNP |
17 | g.43063949C>T | CA10591370 | BRCA1 | c.5074G>A (p.Ala1692Thr) c.5077G>A (p.Ala1693Thr) c.4951G>A (p.Ala1651Thr) c.5071G>A (p.Ala1691Thr) c.4999G>A (p.Ala1667Thr) c.1765G>A (p.Ala589Thr) c.1627G>A (p.Ala543Thr) c.4189G>A (p.Ala1397Thr) c.4954G>A (p.Ala1652Thr) c.5143G>A (p.Ala1715Thr) c.4936G>A (p.Ala1646Thr) c.1639G>A (p.Ala547Thr) c.5140G>A (p.Ala1714Thr) c.1464G>A c.1651G>A (p.Ala551Thr) c.*4860G>A (n.*4860G>A) c.1390G>A (p.Ala464Thr) c.7G>A (p.Ala3Thr) c.550G>A (p.Ala184Thr) c.-98-13759G>A (n.-98-13759G>A) n.5213G>A n.5254G>A | ClinVar dbSNP |
17 | g.43063949_43063950delinsCA | CA2260769584 | BRCA1 | c.5073_5074delinsTG (p.Asp1691=) c.5076_5077delinsTG (p.Asp1692=) c.4950_4951delinsTG (p.Asp1650=) c.5070_5071delinsTG (p.Asp1690=) c.4998_4999delinsTG (p.Asp1666=) c.1764_1765delinsTG (p.Asp588=) c.1626_1627delinsTG (p.Asp542=) c.4188_4189delinsTG (p.Asp1396=) c.4953_4954delinsTG (p.Asp1651=) c.5142_5143delinsTG (p.Asp1714=) c.4935_4936delinsTG (p.Asp1645=) c.1638_1639delinsTG (p.Asp546=) c.5139_5140delinsTG (p.Asp1713=) c.1463_1464delinsTG c.1650_1651delinsTG (p.Asp550=) c.*4859_*4860delinsTG (n.*4859_*4860delinsTG) c.1389_1390delinsTG (p.Asp463=) c.6_7delinsTG (p.Asp2=) c.549_550delinsTG (p.Asp183=) c.-98-13760_-98-13759delinsTG (n.-98-13760_-98-13759delinsTG) n.5212_5213delinsTG n.5253_5254delinsTG | |
17 | g.43063950del | CA10589620 | BRCA1 | c.5073del (p.Asp1691GlufsTer10) c.5076del (p.Asp1692GlufsTer10) c.4950del (p.Asp1650GlufsTer10) c.5070del (p.Asp1690GlufsTer10) c.4998del (p.Asp1666GlufsTer10) c.1764del (p.Asp588GlufsTer10) c.1626del (p.Asp542GlufsTer10) c.4188del (p.Asp1396GlufsTer10) c.4953del (p.Asp1651GlufsTer10) c.5142del (p.Asp1714GlufsTer10) c.4935del (p.Asp1645GlufsTer10) c.1638del (p.Asp546GlufsTer10) c.5139del (p.Asp1713GlufsTer10) c.1463del c.1650del (p.Asp550GlufsTer10) c.*4859del (n.*4859del) c.1389del (p.Asp463GlufsTer10) c.6del (p.Asp2GlufsTer10) c.549del (p.Asp183GlufsTer10) c.-98-13760del (n.-98-13760del) n.5212del n.5253del | ClinVar dbSNP |
17 | g.43063950A= | CA2260769586 | BRCA1 | c.5073T= (p.Asp1691=) c.5076T= (p.Asp1692=) c.4950T= (p.Asp1650=) c.5070T= (p.Asp1690=) c.4998T= (p.Asp1666=) c.1764T= (p.Asp588=) c.1626T= (p.Asp542=) c.4188T= (p.Asp1396=) c.4953T= (p.Asp1651=) c.5142T= (p.Asp1714=) c.4935T= (p.Asp1645=) c.1638T= (p.Asp546=) c.5139T= (p.Asp1713=) c.1463T= c.1650T= (p.Asp550=) c.*4859T= (n.*4859T=) c.1389T= (p.Asp463=) c.6T= (p.Asp2=) c.549T= (p.Asp183=) c.-98-13760T= (n.-98-13760T=) n.5212T= n.5253T= | |
17 | g.43063950A>C | CA10591371 | BRCA1 | c.5073T>G (p.Asp1691Glu) c.5076T>G (p.Asp1692Glu) c.4950T>G (p.Asp1650Glu) c.5070T>G (p.Asp1690Glu) c.4998T>G (p.Asp1666Glu) c.1764T>G (p.Asp588Glu) c.1626T>G (p.Asp542Glu) c.4188T>G (p.Asp1396Glu) c.4953T>G (p.Asp1651Glu) c.5142T>G (p.Asp1714Glu) c.4935T>G (p.Asp1645Glu) c.1638T>G (p.Asp546Glu) c.5139T>G (p.Asp1713Glu) c.1463T>G c.1650T>G (p.Asp550Glu) c.*4859T>G (n.*4859T>G) c.1389T>G (p.Asp463Glu) c.6T>G (p.Asp2Glu) c.549T>G (p.Asp183Glu) c.-98-13760T>G (n.-98-13760T>G) n.5212T>G n.5253T>G | ClinVar dbSNP |
17 | g.43063950A>G | CA500146219 | BRCA1 | c.5073T>C (p.Asp1691=) c.5076T>C (p.Asp1692=) c.4950T>C (p.Asp1650=) c.5070T>C (p.Asp1690=) c.4998T>C (p.Asp1666=) c.1764T>C (p.Asp588=) c.1626T>C (p.Asp542=) c.4188T>C (p.Asp1396=) c.4953T>C (p.Asp1651=) c.5142T>C (p.Asp1714=) c.4935T>C (p.Asp1645=) c.1638T>C (p.Asp546=) c.5139T>C (p.Asp1713=) c.1463T>C c.1650T>C (p.Asp550=) c.*4859T>C (n.*4859T>C) c.1389T>C (p.Asp463=) c.6T>C (p.Asp2=) c.549T>C (p.Asp183=) c.-98-13760T>C (n.-98-13760T>C) n.5212T>C n.5253T>C | ClinVar dbSNP |
17 | g.43063950A>T | CA10591372 | BRCA1 | c.5073T>A (p.Asp1691Glu) c.5076T>A (p.Asp1692Glu) c.4950T>A (p.Asp1650Glu) c.5070T>A (p.Asp1690Glu) c.4998T>A (p.Asp1666Glu) c.1764T>A (p.Asp588Glu) c.1626T>A (p.Asp542Glu) c.4188T>A (p.Asp1396Glu) c.4953T>A (p.Asp1651Glu) c.5142T>A (p.Asp1714Glu) c.4935T>A (p.Asp1645Glu) c.1638T>A (p.Asp546Glu) c.5139T>A (p.Asp1713Glu) c.1463T>A c.1650T>A (p.Asp550Glu) c.*4859T>A (n.*4859T>A) c.1389T>A (p.Asp463Glu) c.6T>A (p.Asp2Glu) c.549T>A (p.Asp183Glu) c.-98-13760T>A (n.-98-13760T>A) n.5212T>A n.5253T>A | ClinVar dbSNP |
17 | g.43063951T>A | CA003216 | BRCA1 | c.5072A>T (p.Asp1691Val) c.5075A>T (p.Asp1692Val) c.4949A>T (p.Asp1650Val) c.5069A>T (p.Asp1690Val) c.4997A>T (p.Asp1666Val) c.1763A>T (p.Asp588Val) c.1625A>T (p.Asp542Val) c.4187A>T (p.Asp1396Val) c.4952A>T (p.Asp1651Val) c.5141A>T (p.Asp1714Val) c.4934A>T (p.Asp1645Val) c.1637A>T (p.Asp546Val) c.5138A>T (p.Asp1713Val) c.1462A>T c.1649A>T (p.Asp550Val) c.*4858A>T (n.*4858A>T) c.1388A>T (p.Asp463Val) c.5A>T (p.Asp2Val) c.548A>T (p.Asp183Val) c.-98-13761A>T (n.-98-13761A>T) n.5211A>T n.5252A>T | ClinVar dbSNP |
17 | g.43063951T>C | CA10591373 | BRCA1 | c.5072A>G (p.Asp1691Gly) c.5075A>G (p.Asp1692Gly) c.4949A>G (p.Asp1650Gly) c.5069A>G (p.Asp1690Gly) c.4997A>G (p.Asp1666Gly) c.1763A>G (p.Asp588Gly) c.1625A>G (p.Asp542Gly) c.4187A>G (p.Asp1396Gly) c.4952A>G (p.Asp1651Gly) c.5141A>G (p.Asp1714Gly) c.4934A>G (p.Asp1645Gly) c.1637A>G (p.Asp546Gly) c.5138A>G (p.Asp1713Gly) c.1462A>G c.1649A>G (p.Asp550Gly) c.*4858A>G (n.*4858A>G) c.1388A>G (p.Asp463Gly) c.5A>G (p.Asp2Gly) c.548A>G (p.Asp183Gly) c.-98-13761A>G (n.-98-13761A>G) n.5211A>G n.5252A>G | ClinVar dbSNP |
17 | g.43063951T>G | CA10586678 | BRCA1 | c.5072A>C (p.Asp1691Ala) c.5075A>C (p.Asp1692Ala) c.4949A>C (p.Asp1650Ala) c.5069A>C (p.Asp1690Ala) c.4997A>C (p.Asp1666Ala) c.1763A>C (p.Asp588Ala) c.1625A>C (p.Asp542Ala) c.4187A>C (p.Asp1396Ala) c.4952A>C (p.Asp1651Ala) c.5141A>C (p.Asp1714Ala) c.4934A>C (p.Asp1645Ala) c.1637A>C (p.Asp546Ala) c.5138A>C (p.Asp1713Ala) c.1462A>C c.1649A>C (p.Asp550Ala) c.*4858A>C (n.*4858A>C) c.1388A>C (p.Asp463Ala) c.5A>C (p.Asp2Ala) c.548A>C (p.Asp183Ala) c.-98-13761A>C (n.-98-13761A>C) n.5211A>C n.5252A>C | ClinVar dbSNP |
17 | g.43063951T= | CA2260769587 | BRCA1 | c.5072A= (p.Asp1691=) c.5075A= (p.Asp1692=) c.4949A= (p.Asp1650=) c.5069A= (p.Asp1690=) c.4997A= (p.Asp1666=) c.1763A= (p.Asp588=) c.1625A= (p.Asp542=) c.4187A= (p.Asp1396=) c.4952A= (p.Asp1651=) c.5141A= (p.Asp1714=) c.4934A= (p.Asp1645=) c.1637A= (p.Asp546=) c.5138A= (p.Asp1713=) c.1462A= c.1649A= (p.Asp550=) c.*4858A= (n.*4858A=) c.1388A= (p.Asp463=) c.5A= (p.Asp2=) c.548A= (p.Asp183=) c.-98-13761A= (n.-98-13761A=) n.5211A= n.5252A= | |
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.43063952del | CA2499224382 | BRCA1 | c.5072-1del (n.5072-1del) c.5075-1del (n.5075-1del) c.4949-1del (n.4949-1del) c.5069-1del (n.5069-1del) c.4997-1del (n.4997-1del) c.1763-1del (n.1763-1del) c.1625-1del (n.1625-1del) c.4187-1del (n.4187-1del) c.4952-1del (n.4952-1del) c.5141-1del (n.5141-1del) c.4934-1del (n.4934-1del) c.1637-1del (n.1637-1del) c.5138-1del (n.5138-1del) c.1462-1del c.1649-1del (n.1649-1del) c.*4858-1del (n.*4858-1del) c.1388-1del (n.1388-1del) c.5-1del (n.5-1del) c.548-1del (n.548-1del) c.-98-13762del (n.-98-13762del) n.5211-1del n.5252-1del | |
17 | g.43063952C>A | CA003206 | BRCA1 | c.5072-1G>T (n.5072-1G>T) c.5075-1G>T (n.5075-1G>T) c.4949-1G>T (n.4949-1G>T) c.5069-1G>T (n.5069-1G>T) c.4997-1G>T (n.4997-1G>T) c.1763-1G>T (n.1763-1G>T) c.1625-1G>T (n.1625-1G>T) c.4187-1G>T (n.4187-1G>T) c.4952-1G>T (n.4952-1G>T) c.5141-1G>T (n.5141-1G>T) c.4934-1G>T (n.4934-1G>T) c.1637-1G>T (n.1637-1G>T) c.5138-1G>T (n.5138-1G>T) c.1462-1G>T c.1649-1G>T (n.1649-1G>T) c.*4858-1G>T (n.*4858-1G>T) c.1388-1G>T (n.1388-1G>T) c.5-1G>T (n.5-1G>T) c.548-1G>T (n.548-1G>T) c.-98-13762G>T (n.-98-13762G>T) n.5211-1G>T n.5252-1G>T | ClinVar dbSNP |
17 | g.43063952C= | CA2260769588 | BRCA1 | c.5072-1G= (n.5072-1G=) c.5075-1G= (n.5075-1G=) c.4949-1G= (n.4949-1G=) c.5069-1G= (n.5069-1G=) c.4997-1G= (n.4997-1G=) c.1763-1G= (n.1763-1G=) c.1625-1G= (n.1625-1G=) c.4187-1G= (n.4187-1G=) c.4952-1G= (n.4952-1G=) c.5141-1G= (n.5141-1G=) c.4934-1G= (n.4934-1G=) c.1637-1G= (n.1637-1G=) c.5138-1G= (n.5138-1G=) c.1462-1G= c.1649-1G= (n.1649-1G=) c.*4858-1G= (n.*4858-1G=) c.1388-1G= (n.1388-1G=) c.5-1G= (n.5-1G=) c.548-1G= (n.548-1G=) c.-98-13762G= (n.-98-13762G=) n.5211-1G= n.5252-1G= | |
17 | g.43063952C>G | CA003205 | BRCA1 | c.5072-1G>C (n.5072-1G>C) c.5075-1G>C (n.5075-1G>C) c.4949-1G>C (n.4949-1G>C) c.5069-1G>C (n.5069-1G>C) c.4997-1G>C (n.4997-1G>C) c.1763-1G>C (n.1763-1G>C) c.1625-1G>C (n.1625-1G>C) c.4187-1G>C (n.4187-1G>C) c.4952-1G>C (n.4952-1G>C) c.5141-1G>C (n.5141-1G>C) c.4934-1G>C (n.4934-1G>C) c.1637-1G>C (n.1637-1G>C) c.5138-1G>C (n.5138-1G>C) c.1462-1G>C c.1649-1G>C (n.1649-1G>C) c.*4858-1G>C (n.*4858-1G>C) c.1388-1G>C (n.1388-1G>C) c.5-1G>C (n.5-1G>C) c.548-1G>C (n.548-1G>C) c.-98-13762G>C (n.-98-13762G>C) n.5211-1G>C n.5252-1G>C | ClinVar dbSNP |
17 | g.43063952C>T | CA003204 | BRCA1 | c.5072-1G>A (n.5072-1G>A) c.5075-1G>A (n.5075-1G>A) c.4949-1G>A (n.4949-1G>A) c.5069-1G>A (n.5069-1G>A) c.4997-1G>A (n.4997-1G>A) c.1763-1G>A (n.1763-1G>A) c.1625-1G>A (n.1625-1G>A) c.4187-1G>A (n.4187-1G>A) c.4952-1G>A (n.4952-1G>A) c.5141-1G>A (n.5141-1G>A) c.4934-1G>A (n.4934-1G>A) c.1637-1G>A (n.1637-1G>A) c.5138-1G>A (n.5138-1G>A) c.1462-1G>A c.1649-1G>A (n.1649-1G>A) c.*4858-1G>A (n.*4858-1G>A) c.1388-1G>A (n.1388-1G>A) c.5-1G>A (n.5-1G>A) c.548-1G>A (n.548-1G>A) c.-98-13762G>A (n.-98-13762G>A) n.5211-1G>A n.5252-1G>A | ClinVar dbSNP |
17 | g.43063952_43063953delinsCT | CA2260769589 | BRCA1 | c.5072-2_5072-1delinsAG (n.5072-2_5072-1delinsAG) c.5075-2_5075-1delinsAG (n.5075-2_5075-1delinsAG) c.4949-2_4949-1delinsAG (n.4949-2_4949-1delinsAG) c.5069-2_5069-1delinsAG (n.5069-2_5069-1delinsAG) c.4997-2_4997-1delinsAG (n.4997-2_4997-1delinsAG) c.1763-2_1763-1delinsAG (n.1763-2_1763-1delinsAG) c.1625-2_1625-1delinsAG (n.1625-2_1625-1delinsAG) c.4187-2_4187-1delinsAG (n.4187-2_4187-1delinsAG) c.4952-2_4952-1delinsAG (n.4952-2_4952-1delinsAG) c.5141-2_5141-1delinsAG (n.5141-2_5141-1delinsAG) c.4934-2_4934-1delinsAG (n.4934-2_4934-1delinsAG) c.1637-2_1637-1delinsAG (n.1637-2_1637-1delinsAG) c.5138-2_5138-1delinsAG (n.5138-2_5138-1delinsAG) c.1462-2_1462-1delinsAG c.1649-2_1649-1delinsAG (n.1649-2_1649-1delinsAG) c.*4858-2_*4858-1delinsAG (n.*4858-2_*4858-1delinsAG) c.1388-2_1388-1delinsAG (n.1388-2_1388-1delinsAG) c.5-2_5-1delinsAG (n.5-2_5-1delinsAG) c.548-2_548-1delinsAG (n.548-2_548-1delinsAG) c.-98-13763_-98-13762delinsAG (n.-98-13763_-98-13762delinsAG) n.5211-2_5211-1delinsAG n.5252-2_5252-1delinsAG | |
17 | g.43063953del | CA10602580 | BRCA1 | c.5072-2del (n.5072-2del) c.5075-2del (n.5075-2del) c.4949-2del (n.4949-2del) c.5069-2del (n.5069-2del) c.4997-2del (n.4997-2del) c.1763-2del (n.1763-2del) c.1625-2del (n.1625-2del) c.4187-2del (n.4187-2del) c.4952-2del (n.4952-2del) c.5141-2del (n.5141-2del) c.4934-2del (n.4934-2del) c.1637-2del (n.1637-2del) c.5138-2del (n.5138-2del) c.1462-2del c.1649-2del (n.1649-2del) c.*4858-2del (n.*4858-2del) c.1388-2del (n.1388-2del) c.5-2del (n.5-2del) c.548-2del (n.548-2del) c.-98-13763del (n.-98-13763del) n.5211-2del n.5252-2del | ClinVar dbSNP |
17 | g.43063953T>A | CA003208 | BRCA1 | c.5072-2A>T (n.5072-2A>T) c.5075-2A>T (n.5075-2A>T) c.4949-2A>T (n.4949-2A>T) c.5069-2A>T (n.5069-2A>T) c.4997-2A>T (n.4997-2A>T) c.1763-2A>T (n.1763-2A>T) c.1625-2A>T (n.1625-2A>T) c.4187-2A>T (n.4187-2A>T) c.4952-2A>T (n.4952-2A>T) c.5141-2A>T (n.5141-2A>T) c.4934-2A>T (n.4934-2A>T) c.1637-2A>T (n.1637-2A>T) c.5138-2A>T (n.5138-2A>T) c.1462-2A>T c.1649-2A>T (n.1649-2A>T) c.*4858-2A>T (n.*4858-2A>T) c.1388-2A>T (n.1388-2A>T) c.5-2A>T (n.5-2A>T) c.548-2A>T (n.548-2A>T) c.-98-13763A>T (n.-98-13763A>T) n.5211-2A>T n.5252-2A>T | ClinVar dbSNP |
17 | g.43063953T>C | CA10585907 | BRCA1 | c.5072-2A>G (n.5072-2A>G) c.5075-2A>G (n.5075-2A>G) c.4949-2A>G (n.4949-2A>G) c.5069-2A>G (n.5069-2A>G) c.4997-2A>G (n.4997-2A>G) c.1763-2A>G (n.1763-2A>G) c.1625-2A>G (n.1625-2A>G) c.4187-2A>G (n.4187-2A>G) c.4952-2A>G (n.4952-2A>G) c.5141-2A>G (n.5141-2A>G) c.4934-2A>G (n.4934-2A>G) c.1637-2A>G (n.1637-2A>G) c.5138-2A>G (n.5138-2A>G) c.1462-2A>G c.1649-2A>G (n.1649-2A>G) c.*4858-2A>G (n.*4858-2A>G) c.1388-2A>G (n.1388-2A>G) c.5-2A>G (n.5-2A>G) c.548-2A>G (n.548-2A>G) c.-98-13763A>G (n.-98-13763A>G) n.5211-2A>G n.5252-2A>G | ClinVar dbSNP |
17 | g.43063953T>G | CA003207 | BRCA1 | c.5072-2A>C (n.5072-2A>C) c.5075-2A>C (n.5075-2A>C) c.4949-2A>C (n.4949-2A>C) c.5069-2A>C (n.5069-2A>C) c.4997-2A>C (n.4997-2A>C) c.1763-2A>C (n.1763-2A>C) c.1625-2A>C (n.1625-2A>C) c.4187-2A>C (n.4187-2A>C) c.4952-2A>C (n.4952-2A>C) c.5141-2A>C (n.5141-2A>C) c.4934-2A>C (n.4934-2A>C) c.1637-2A>C (n.1637-2A>C) c.5138-2A>C (n.5138-2A>C) c.1462-2A>C c.1649-2A>C (n.1649-2A>C) c.*4858-2A>C (n.*4858-2A>C) c.1388-2A>C (n.1388-2A>C) c.5-2A>C (n.5-2A>C) c.548-2A>C (n.548-2A>C) c.-98-13763A>C (n.-98-13763A>C) n.5211-2A>C n.5252-2A>C | ClinVar dbSNP |
17 | g.43063953T= | CA2260769590 | BRCA1 | c.5072-2A= (n.5072-2A=) c.5075-2A= (n.5075-2A=) c.4949-2A= (n.4949-2A=) c.5069-2A= (n.5069-2A=) c.4997-2A= (n.4997-2A=) c.1763-2A= (n.1763-2A=) c.1625-2A= (n.1625-2A=) c.4187-2A= (n.4187-2A=) c.4952-2A= (n.4952-2A=) c.5141-2A= (n.5141-2A=) c.4934-2A= (n.4934-2A=) c.1637-2A= (n.1637-2A=) c.5138-2A= (n.5138-2A=) c.1462-2A= c.1649-2A= (n.1649-2A=) c.*4858-2A= (n.*4858-2A=) c.1388-2A= (n.1388-2A=) c.5-2A= (n.5-2A=) c.548-2A= (n.548-2A=) c.-98-13763A= (n.-98-13763A=) n.5211-2A= n.5252-2A= | |
17 | g.43063954G>A | CA16607660 | BRCA1 | c.5072-3C>T (n.5072-3C>T) c.5075-3C>T (n.5075-3C>T) c.4949-3C>T (n.4949-3C>T) c.5069-3C>T (n.5069-3C>T) c.4997-3C>T (n.4997-3C>T) c.1763-3C>T (n.1763-3C>T) c.1625-3C>T (n.1625-3C>T) c.4187-3C>T (n.4187-3C>T) c.4952-3C>T (n.4952-3C>T) c.5141-3C>T (n.5141-3C>T) c.4934-3C>T (n.4934-3C>T) c.1637-3C>T (n.1637-3C>T) c.5138-3C>T (n.5138-3C>T) c.1462-3C>T c.1649-3C>T (n.1649-3C>T) c.*4858-3C>T (n.*4858-3C>T) c.1388-3C>T (n.1388-3C>T) c.5-3C>T (n.5-3C>T) c.548-3C>T (n.548-3C>T) c.-98-13764C>T (n.-98-13764C>T) n.5211-3C>T n.5252-3C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43063954G>C | CA003209 | BRCA1 | c.5072-3C>G (n.5072-3C>G) c.5075-3C>G (n.5075-3C>G) c.4949-3C>G (n.4949-3C>G) c.5069-3C>G (n.5069-3C>G) c.4997-3C>G (n.4997-3C>G) c.1763-3C>G (n.1763-3C>G) c.1625-3C>G (n.1625-3C>G) c.4187-3C>G (n.4187-3C>G) c.4952-3C>G (n.4952-3C>G) c.5141-3C>G (n.5141-3C>G) c.4934-3C>G (n.4934-3C>G) c.1637-3C>G (n.1637-3C>G) c.5138-3C>G (n.5138-3C>G) c.1462-3C>G c.1649-3C>G (n.1649-3C>G) c.*4858-3C>G (n.*4858-3C>G) c.1388-3C>G (n.1388-3C>G) c.5-3C>G (n.5-3C>G) c.548-3C>G (n.548-3C>G) c.-98-13764C>G (n.-98-13764C>G) n.5211-3C>G n.5252-3C>G | ClinVar dbSNP |
17 | g.43063954G= | CA2260769591 | BRCA1 | c.5072-3C= (n.5072-3C=) c.5075-3C= (n.5075-3C=) c.4949-3C= (n.4949-3C=) c.5069-3C= (n.5069-3C=) c.4997-3C= (n.4997-3C=) c.1763-3C= (n.1763-3C=) c.1625-3C= (n.1625-3C=) c.4187-3C= (n.4187-3C=) c.4952-3C= (n.4952-3C=) c.5141-3C= (n.5141-3C=) c.4934-3C= (n.4934-3C=) c.1637-3C= (n.1637-3C=) c.5138-3C= (n.5138-3C=) c.1462-3C= c.1649-3C= (n.1649-3C=) c.*4858-3C= (n.*4858-3C=) c.1388-3C= (n.1388-3C=) c.5-3C= (n.5-3C=) c.548-3C= (n.548-3C=) c.-98-13764C= (n.-98-13764C=) n.5211-3C= n.5252-3C= | |
17 | g.43063954G>T | CA916080127 | BRCA1 | c.5072-3C>A (n.5072-3C>A) c.5075-3C>A (n.5075-3C>A) c.4949-3C>A (n.4949-3C>A) c.5069-3C>A (n.5069-3C>A) c.4997-3C>A (n.4997-3C>A) c.1763-3C>A (n.1763-3C>A) c.1625-3C>A (n.1625-3C>A) c.4187-3C>A (n.4187-3C>A) c.4952-3C>A (n.4952-3C>A) c.5141-3C>A (n.5141-3C>A) c.4934-3C>A (n.4934-3C>A) c.1637-3C>A (n.1637-3C>A) c.5138-3C>A (n.5138-3C>A) c.1462-3C>A c.1649-3C>A (n.1649-3C>A) c.*4858-3C>A (n.*4858-3C>A) c.1388-3C>A (n.1388-3C>A) c.5-3C>A (n.5-3C>A) c.548-3C>A (n.548-3C>A) c.-98-13764C>A (n.-98-13764C>A) n.5211-3C>A n.5252-3C>A | ClinVar dbSNP |
17 | g.43063954_43063955insTTTTCATAACAACATGAGTAGTCTCTT | CA2638061591 | BRCA1 | c.5072-4_5072-3insAAGAGACTACTCATGTTGTTATGAAAA (n.5072-4_5072-3insAAGAGACTACTCATGTTGTTATGAAAA) c.5075-4_5075-3insAAGAGACTACTCATGTTGTTATGAAAA (n.5075-4_5075-3insAAGAGACTACTCATGTTGTTATGAAAA) c.4949-4_4949-3insAAGAGACTACTCATGTTGTTATGAAAA (n.4949-4_4949-3insAAGAGACTACTCATGTTGTTATGAAAA) c.5069-4_5069-3insAAGAGACTACTCATGTTGTTATGAAAA (n.5069-4_5069-3insAAGAGACTACTCATGTTGTTATGAAAA) c.4997-4_4997-3insAAGAGACTACTCATGTTGTTATGAAAA (n.4997-4_4997-3insAAGAGACTACTCATGTTGTTATGAAAA) c.1763-4_1763-3insAAGAGACTACTCATGTTGTTATGAAAA (n.1763-4_1763-3insAAGAGACTACTCATGTTGTTATGAAAA) c.1625-4_1625-3insAAGAGACTACTCATGTTGTTATGAAAA (n.1625-4_1625-3insAAGAGACTACTCATGTTGTTATGAAAA) c.4187-4_4187-3insAAGAGACTACTCATGTTGTTATGAAAA (n.4187-4_4187-3insAAGAGACTACTCATGTTGTTATGAAAA) c.4952-4_4952-3insAAGAGACTACTCATGTTGTTATGAAAA (n.4952-4_4952-3insAAGAGACTACTCATGTTGTTATGAAAA) c.5141-4_5141-3insAAGAGACTACTCATGTTGTTATGAAAA (n.5141-4_5141-3insAAGAGACTACTCATGTTGTTATGAAAA) c.4934-4_4934-3insAAGAGACTACTCATGTTGTTATGAAAA (n.4934-4_4934-3insAAGAGACTACTCATGTTGTTATGAAAA) c.1637-4_1637-3insAAGAGACTACTCATGTTGTTATGAAAA (n.1637-4_1637-3insAAGAGACTACTCATGTTGTTATGAAAA) c.5138-4_5138-3insAAGAGACTACTCATGTTGTTATGAAAA (n.5138-4_5138-3insAAGAGACTACTCATGTTGTTATGAAAA) c.1462-4_1462-3insAAGAGACTACTCATGTTGTTATGAAAA c.1649-4_1649-3insAAGAGACTACTCATGTTGTTATGAAAA (n.1649-4_1649-3insAAGAGACTACTCATGTTGTTATGAAAA) c.*4858-4_*4858-3insAAGAGACTACTCATGTTGTTATGAAAA (n.*4858-4_*4858-3insAAGAGACTACTCATGTTGTTATGAAAA) c.1388-4_1388-3insAAGAGACTACTCATGTTGTTATGAAAA (n.1388-4_1388-3insAAGAGACTACTCATGTTGTTATGAAAA) c.5-4_5-3insAAGAGACTACTCATGTTGTTATGAAAA (n.5-4_5-3insAAGAGACTACTCATGTTGTTATGAAAA) c.548-4_548-3insAAGAGACTACTCATGTTGTTATGAAAA (n.548-4_548-3insAAGAGACTACTCATGTTGTTATGAAAA) c.-98-13765_-98-13764insAAGAGACTACTCATGTTGTTATGAAAA (n.-98-13765_-98-13764insAAGAGACTACTCATGTTGTTATGAAAA) n.5211-4_5211-3insAAGAGACTACTCATGTTGTTATGAAAA n.5252-4_5252-3insAAGAGACTACTCATGTTGTTATGAAAA | gnomAD v4 |
17 | g.43063955C>A | CA915950083 | BRCA1 | c.5072-4G>T (n.5072-4G>T) c.5075-4G>T (n.5075-4G>T) c.4949-4G>T (n.4949-4G>T) c.5069-4G>T (n.5069-4G>T) c.4997-4G>T (n.4997-4G>T) c.1763-4G>T (n.1763-4G>T) c.1625-4G>T (n.1625-4G>T) c.4187-4G>T (n.4187-4G>T) c.4952-4G>T (n.4952-4G>T) c.5141-4G>T (n.5141-4G>T) c.4934-4G>T (n.4934-4G>T) c.1637-4G>T (n.1637-4G>T) c.5138-4G>T (n.5138-4G>T) c.1462-4G>T c.1649-4G>T (n.1649-4G>T) c.*4858-4G>T (n.*4858-4G>T) c.1388-4G>T (n.1388-4G>T) c.5-4G>T (n.5-4G>T) c.548-4G>T (n.548-4G>T) c.-98-13765G>T (n.-98-13765G>T) n.5211-4G>T n.5252-4G>T | ClinVar dbSNP gnomAD v4 |
17 | g.43063955C= | CA2260769592 | BRCA1 | c.5072-4G= (n.5072-4G=) c.5075-4G= (n.5075-4G=) c.4949-4G= (n.4949-4G=) c.5069-4G= (n.5069-4G=) c.4997-4G= (n.4997-4G=) c.1763-4G= (n.1763-4G=) c.1625-4G= (n.1625-4G=) c.4187-4G= (n.4187-4G=) c.4952-4G= (n.4952-4G=) c.5141-4G= (n.5141-4G=) c.4934-4G= (n.4934-4G=) c.1637-4G= (n.1637-4G=) c.5138-4G= (n.5138-4G=) c.1462-4G= c.1649-4G= (n.1649-4G=) c.*4858-4G= (n.*4858-4G=) c.1388-4G= (n.1388-4G=) c.5-4G= (n.5-4G=) c.548-4G= (n.548-4G=) c.-98-13765G= (n.-98-13765G=) n.5211-4G= n.5252-4G= | |
17 | g.43063955C>G | CA916080128 | BRCA1 | c.5072-4G>C (n.5072-4G>C) c.5075-4G>C (n.5075-4G>C) c.4949-4G>C (n.4949-4G>C) c.5069-4G>C (n.5069-4G>C) c.4997-4G>C (n.4997-4G>C) c.1763-4G>C (n.1763-4G>C) c.1625-4G>C (n.1625-4G>C) c.4187-4G>C (n.4187-4G>C) c.4952-4G>C (n.4952-4G>C) c.5141-4G>C (n.5141-4G>C) c.4934-4G>C (n.4934-4G>C) c.1637-4G>C (n.1637-4G>C) c.5138-4G>C (n.5138-4G>C) c.1462-4G>C c.1649-4G>C (n.1649-4G>C) c.*4858-4G>C (n.*4858-4G>C) c.1388-4G>C (n.1388-4G>C) c.5-4G>C (n.5-4G>C) c.548-4G>C (n.548-4G>C) c.-98-13765G>C (n.-98-13765G>C) n.5211-4G>C n.5252-4G>C | ClinVar dbSNP |
17 | g.43063955C>T | CA003210 | BRCA1 | c.5072-4G>A (n.5072-4G>A) c.5075-4G>A (n.5075-4G>A) c.4949-4G>A (n.4949-4G>A) c.5069-4G>A (n.5069-4G>A) c.4997-4G>A (n.4997-4G>A) c.1763-4G>A (n.1763-4G>A) c.1625-4G>A (n.1625-4G>A) c.4187-4G>A (n.4187-4G>A) c.4952-4G>A (n.4952-4G>A) c.5141-4G>A (n.5141-4G>A) c.4934-4G>A (n.4934-4G>A) c.1637-4G>A (n.1637-4G>A) c.5138-4G>A (n.5138-4G>A) c.1462-4G>A c.1649-4G>A (n.1649-4G>A) c.*4858-4G>A (n.*4858-4G>A) c.1388-4G>A (n.1388-4G>A) c.5-4G>A (n.5-4G>A) c.548-4G>A (n.548-4G>A) c.-98-13765G>A (n.-98-13765G>A) n.5211-4G>A n.5252-4G>A | ClinVar dbSNP |
17 | g.43063956A= | CA2260769593 | BRCA1 | c.5072-5T= (n.5072-5T=) c.5075-5T= (n.5075-5T=) c.4949-5T= (n.4949-5T=) c.5069-5T= (n.5069-5T=) c.4997-5T= (n.4997-5T=) c.1763-5T= (n.1763-5T=) c.1625-5T= (n.1625-5T=) c.4187-5T= (n.4187-5T=) c.4952-5T= (n.4952-5T=) c.5141-5T= (n.5141-5T=) c.4934-5T= (n.4934-5T=) c.1637-5T= (n.1637-5T=) c.5138-5T= (n.5138-5T=) c.1462-5T= c.1649-5T= (n.1649-5T=) c.*4858-5T= (n.*4858-5T=) c.1388-5T= (n.1388-5T=) c.5-5T= (n.5-5T=) c.548-5T= (n.548-5T=) c.-98-13766T= (n.-98-13766T=) n.5211-5T= n.5252-5T= | |
17 | g.43063956A>C | CA916080129 | BRCA1 | c.5072-5T>G (n.5072-5T>G) c.5075-5T>G (n.5075-5T>G) c.4949-5T>G (n.4949-5T>G) c.5069-5T>G (n.5069-5T>G) c.4997-5T>G (n.4997-5T>G) c.1763-5T>G (n.1763-5T>G) c.1625-5T>G (n.1625-5T>G) c.4187-5T>G (n.4187-5T>G) c.4952-5T>G (n.4952-5T>G) c.5141-5T>G (n.5141-5T>G) c.4934-5T>G (n.4934-5T>G) c.1637-5T>G (n.1637-5T>G) c.5138-5T>G (n.5138-5T>G) c.1462-5T>G c.1649-5T>G (n.1649-5T>G) c.*4858-5T>G (n.*4858-5T>G) c.1388-5T>G (n.1388-5T>G) c.5-5T>G (n.5-5T>G) c.548-5T>G (n.548-5T>G) c.-98-13766T>G (n.-98-13766T>G) n.5211-5T>G n.5252-5T>G | ClinVar dbSNP |
17 | g.43063956A>G | CA053872 | BRCA1 | c.5072-5T>C (n.5072-5T>C) c.5075-5T>C (n.5075-5T>C) c.4949-5T>C (n.4949-5T>C) c.5069-5T>C (n.5069-5T>C) c.4997-5T>C (n.4997-5T>C) c.1763-5T>C (n.1763-5T>C) c.1625-5T>C (n.1625-5T>C) c.4187-5T>C (n.4187-5T>C) c.4952-5T>C (n.4952-5T>C) c.5141-5T>C (n.5141-5T>C) c.4934-5T>C (n.4934-5T>C) c.1637-5T>C (n.1637-5T>C) c.5138-5T>C (n.5138-5T>C) c.1462-5T>C c.1649-5T>C (n.1649-5T>C) c.*4858-5T>C (n.*4858-5T>C) c.1388-5T>C (n.1388-5T>C) c.5-5T>C (n.5-5T>C) c.548-5T>C (n.548-5T>C) c.-98-13766T>C (n.-98-13766T>C) n.5211-5T>C n.5252-5T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43063956A>T | CA916080130 | BRCA1 | c.5072-5T>A (n.5072-5T>A) c.5075-5T>A (n.5075-5T>A) c.4949-5T>A (n.4949-5T>A) c.5069-5T>A (n.5069-5T>A) c.4997-5T>A (n.4997-5T>A) c.1763-5T>A (n.1763-5T>A) c.1625-5T>A (n.1625-5T>A) c.4187-5T>A (n.4187-5T>A) c.4952-5T>A (n.4952-5T>A) c.5141-5T>A (n.5141-5T>A) c.4934-5T>A (n.4934-5T>A) c.1637-5T>A (n.1637-5T>A) c.5138-5T>A (n.5138-5T>A) c.1462-5T>A c.1649-5T>A (n.1649-5T>A) c.*4858-5T>A (n.*4858-5T>A) c.1388-5T>A (n.1388-5T>A) c.5-5T>A (n.5-5T>A) c.548-5T>A (n.548-5T>A) c.-98-13766T>A (n.-98-13766T>A) n.5211-5T>A n.5252-5T>A | ClinVar dbSNP |
17 | g.43063957G>A | CA658798075 | BRCA1 | c.5072-6C>T (n.5072-6C>T) c.5075-6C>T (n.5075-6C>T) c.4949-6C>T (n.4949-6C>T) c.5069-6C>T (n.5069-6C>T) c.4997-6C>T (n.4997-6C>T) c.1763-6C>T (n.1763-6C>T) c.1625-6C>T (n.1625-6C>T) c.4187-6C>T (n.4187-6C>T) c.4952-6C>T (n.4952-6C>T) c.5141-6C>T (n.5141-6C>T) c.4934-6C>T (n.4934-6C>T) c.1637-6C>T (n.1637-6C>T) c.5138-6C>T (n.5138-6C>T) c.1462-6C>T c.1649-6C>T (n.1649-6C>T) c.*4858-6C>T (n.*4858-6C>T) c.1388-6C>T (n.1388-6C>T) c.5-6C>T (n.5-6C>T) c.548-6C>T (n.548-6C>T) c.-98-13767C>T (n.-98-13767C>T) n.5211-6C>T n.5252-6C>T | ClinVar dbSNP |
17 | g.43063957G>C | CA916080131 | BRCA1 | c.5072-6C>G (n.5072-6C>G) c.5075-6C>G (n.5075-6C>G) c.4949-6C>G (n.4949-6C>G) c.5069-6C>G (n.5069-6C>G) c.4997-6C>G (n.4997-6C>G) c.1763-6C>G (n.1763-6C>G) c.1625-6C>G (n.1625-6C>G) c.4187-6C>G (n.4187-6C>G) c.4952-6C>G (n.4952-6C>G) c.5141-6C>G (n.5141-6C>G) c.4934-6C>G (n.4934-6C>G) c.1637-6C>G (n.1637-6C>G) c.5138-6C>G (n.5138-6C>G) c.1462-6C>G c.1649-6C>G (n.1649-6C>G) c.*4858-6C>G (n.*4858-6C>G) c.1388-6C>G (n.1388-6C>G) c.5-6C>G (n.5-6C>G) c.548-6C>G (n.548-6C>G) c.-98-13767C>G (n.-98-13767C>G) n.5211-6C>G n.5252-6C>G | ClinVar dbSNP |
17 | g.43063957G= | CA2260769594 | BRCA1 | c.5072-6C= (n.5072-6C=) c.5075-6C= (n.5075-6C=) c.4949-6C= (n.4949-6C=) c.5069-6C= (n.5069-6C=) c.4997-6C= (n.4997-6C=) c.1763-6C= (n.1763-6C=) c.1625-6C= (n.1625-6C=) c.4187-6C= (n.4187-6C=) c.4952-6C= (n.4952-6C=) c.5141-6C= (n.5141-6C=) c.4934-6C= (n.4934-6C=) c.1637-6C= (n.1637-6C=) c.5138-6C= (n.5138-6C=) c.1462-6C= c.1649-6C= (n.1649-6C=) c.*4858-6C= (n.*4858-6C=) c.1388-6C= (n.1388-6C=) c.5-6C= (n.5-6C=) c.548-6C= (n.548-6C=) c.-98-13767C= (n.-98-13767C=) n.5211-6C= n.5252-6C= | |
17 | g.43063957G>T | CA003213 | BRCA1 | c.5072-6C>A (n.5072-6C>A) c.5075-6C>A (n.5075-6C>A) c.4949-6C>A (n.4949-6C>A) c.5069-6C>A (n.5069-6C>A) c.4997-6C>A (n.4997-6C>A) c.1763-6C>A (n.1763-6C>A) c.1625-6C>A (n.1625-6C>A) c.4187-6C>A (n.4187-6C>A) c.4952-6C>A (n.4952-6C>A) c.5141-6C>A (n.5141-6C>A) c.4934-6C>A (n.4934-6C>A) c.1637-6C>A (n.1637-6C>A) c.5138-6C>A (n.5138-6C>A) c.1462-6C>A c.1649-6C>A (n.1649-6C>A) c.*4858-6C>A (n.*4858-6C>A) c.1388-6C>A (n.1388-6C>A) c.5-6C>A (n.5-6C>A) c.548-6C>A (n.548-6C>A) c.-98-13767C>A (n.-98-13767C>A) n.5211-6C>A n.5252-6C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43063958A= | CA2260769595 | BRCA1 | c.5072-7T= (n.5072-7T=) c.5075-7T= (n.5075-7T=) c.4949-7T= (n.4949-7T=) c.5069-7T= (n.5069-7T=) c.4997-7T= (n.4997-7T=) c.1763-7T= (n.1763-7T=) c.1625-7T= (n.1625-7T=) c.4187-7T= (n.4187-7T=) c.4952-7T= (n.4952-7T=) c.5141-7T= (n.5141-7T=) c.4934-7T= (n.4934-7T=) c.1637-7T= (n.1637-7T=) c.5138-7T= (n.5138-7T=) c.1462-7T= c.1649-7T= (n.1649-7T=) c.*4858-7T= (n.*4858-7T=) c.1388-7T= (n.1388-7T=) c.5-7T= (n.5-7T=) c.548-7T= (n.548-7T=) c.-98-13768T= (n.-98-13768T=) n.5211-7T= n.5252-7T= | |
17 | g.43063958A>C | CA916080132 | BRCA1 | c.5072-7T>G (n.5072-7T>G) c.5075-7T>G (n.5075-7T>G) c.4949-7T>G (n.4949-7T>G) c.5069-7T>G (n.5069-7T>G) c.4997-7T>G (n.4997-7T>G) c.1763-7T>G (n.1763-7T>G) c.1625-7T>G (n.1625-7T>G) c.4187-7T>G (n.4187-7T>G) c.4952-7T>G (n.4952-7T>G) c.5141-7T>G (n.5141-7T>G) c.4934-7T>G (n.4934-7T>G) c.1637-7T>G (n.1637-7T>G) c.5138-7T>G (n.5138-7T>G) c.1462-7T>G c.1649-7T>G (n.1649-7T>G) c.*4858-7T>G (n.*4858-7T>G) c.1388-7T>G (n.1388-7T>G) c.5-7T>G (n.5-7T>G) c.548-7T>G (n.548-7T>G) c.-98-13768T>G (n.-98-13768T>G) n.5211-7T>G n.5252-7T>G | ClinVar dbSNP gnomAD v4 |
17 | g.43063958A>G | CA053876 | BRCA1 | c.5072-7T>C (n.5072-7T>C) c.5075-7T>C (n.5075-7T>C) c.4949-7T>C (n.4949-7T>C) c.5069-7T>C (n.5069-7T>C) c.4997-7T>C (n.4997-7T>C) c.1763-7T>C (n.1763-7T>C) c.1625-7T>C (n.1625-7T>C) c.4187-7T>C (n.4187-7T>C) c.4952-7T>C (n.4952-7T>C) c.5141-7T>C (n.5141-7T>C) c.4934-7T>C (n.4934-7T>C) c.1637-7T>C (n.1637-7T>C) c.5138-7T>C (n.5138-7T>C) c.1462-7T>C c.1649-7T>C (n.1649-7T>C) c.*4858-7T>C (n.*4858-7T>C) c.1388-7T>C (n.1388-7T>C) c.5-7T>C (n.5-7T>C) c.548-7T>C (n.548-7T>C) c.-98-13768T>C (n.-98-13768T>C) n.5211-7T>C n.5252-7T>C | ClinVar dbSNP ExAC gnomAD v2 |
17 | g.43063958A>T | CA916080133 | BRCA1 | c.5072-7T>A (n.5072-7T>A) c.5075-7T>A (n.5075-7T>A) c.4949-7T>A (n.4949-7T>A) c.5069-7T>A (n.5069-7T>A) c.4997-7T>A (n.4997-7T>A) c.1763-7T>A (n.1763-7T>A) c.1625-7T>A (n.1625-7T>A) c.4187-7T>A (n.4187-7T>A) c.4952-7T>A (n.4952-7T>A) c.5141-7T>A (n.5141-7T>A) c.4934-7T>A (n.4934-7T>A) c.1637-7T>A (n.1637-7T>A) c.5138-7T>A (n.5138-7T>A) c.1462-7T>A c.1649-7T>A (n.1649-7T>A) c.*4858-7T>A (n.*4858-7T>A) c.1388-7T>A (n.1388-7T>A) c.5-7T>A (n.5-7T>A) c.548-7T>A (n.548-7T>A) c.-98-13768T>A (n.-98-13768T>A) n.5211-7T>A n.5252-7T>A | ClinVar dbSNP |
17 | g.43063959A= | CA2260769596 | BRCA1 | c.5072-8T= (n.5072-8T=) c.5075-8T= (n.5075-8T=) c.4949-8T= (n.4949-8T=) c.5069-8T= (n.5069-8T=) c.4997-8T= (n.4997-8T=) c.1763-8T= (n.1763-8T=) c.1625-8T= (n.1625-8T=) c.4187-8T= (n.4187-8T=) c.4952-8T= (n.4952-8T=) c.5141-8T= (n.5141-8T=) c.4934-8T= (n.4934-8T=) c.1637-8T= (n.1637-8T=) c.5138-8T= (n.5138-8T=) c.1462-8T= c.1649-8T= (n.1649-8T=) c.*4858-8T= (n.*4858-8T=) c.1388-8T= (n.1388-8T=) c.5-8T= (n.5-8T=) c.548-8T= (n.548-8T=) c.-98-13769T= (n.-98-13769T=) n.5211-8T= n.5252-8T= | |
17 | g.43063959A>C | CA003214 | BRCA1 | c.5072-8T>G (n.5072-8T>G) c.5075-8T>G (n.5075-8T>G) c.4949-8T>G (n.4949-8T>G) c.5069-8T>G (n.5069-8T>G) c.4997-8T>G (n.4997-8T>G) c.1763-8T>G (n.1763-8T>G) c.1625-8T>G (n.1625-8T>G) c.4187-8T>G (n.4187-8T>G) c.4952-8T>G (n.4952-8T>G) c.5141-8T>G (n.5141-8T>G) c.4934-8T>G (n.4934-8T>G) c.1637-8T>G (n.1637-8T>G) c.5138-8T>G (n.5138-8T>G) c.1462-8T>G c.1649-8T>G (n.1649-8T>G) c.*4858-8T>G (n.*4858-8T>G) c.1388-8T>G (n.1388-8T>G) c.5-8T>G (n.5-8T>G) c.548-8T>G (n.548-8T>G) c.-98-13769T>G (n.-98-13769T>G) n.5211-8T>G n.5252-8T>G | ClinVar dbSNP |
17 | g.43063959A>G | CA916080136 | BRCA1 | c.5072-8T>C (n.5072-8T>C) c.5075-8T>C (n.5075-8T>C) c.4949-8T>C (n.4949-8T>C) c.5069-8T>C (n.5069-8T>C) c.4997-8T>C (n.4997-8T>C) c.1763-8T>C (n.1763-8T>C) c.1625-8T>C (n.1625-8T>C) c.4187-8T>C (n.4187-8T>C) c.4952-8T>C (n.4952-8T>C) c.5141-8T>C (n.5141-8T>C) c.4934-8T>C (n.4934-8T>C) c.1637-8T>C (n.1637-8T>C) c.5138-8T>C (n.5138-8T>C) c.1462-8T>C c.1649-8T>C (n.1649-8T>C) c.*4858-8T>C (n.*4858-8T>C) c.1388-8T>C (n.1388-8T>C) c.5-8T>C (n.5-8T>C) c.548-8T>C (n.548-8T>C) c.-98-13769T>C (n.-98-13769T>C) n.5211-8T>C n.5252-8T>C | ClinVar dbSNP |
17 | g.43063959A>T | CA916080135 | BRCA1 | c.5072-8T>A (n.5072-8T>A) c.5075-8T>A (n.5075-8T>A) c.4949-8T>A (n.4949-8T>A) c.5069-8T>A (n.5069-8T>A) c.4997-8T>A (n.4997-8T>A) c.1763-8T>A (n.1763-8T>A) c.1625-8T>A (n.1625-8T>A) c.4187-8T>A (n.4187-8T>A) c.4952-8T>A (n.4952-8T>A) c.5141-8T>A (n.5141-8T>A) c.4934-8T>A (n.4934-8T>A) c.1637-8T>A (n.1637-8T>A) c.5138-8T>A (n.5138-8T>A) c.1462-8T>A c.1649-8T>A (n.1649-8T>A) c.*4858-8T>A (n.*4858-8T>A) c.1388-8T>A (n.1388-8T>A) c.5-8T>A (n.5-8T>A) c.548-8T>A (n.548-8T>A) c.-98-13769T>A (n.-98-13769T>A) n.5211-8T>A n.5252-8T>A | ClinVar dbSNP |
17 | g.43063960T>A | CA003215 | BRCA1 | c.5072-9A>T (n.5072-9A>T) c.5075-9A>T (n.5075-9A>T) c.4949-9A>T (n.4949-9A>T) c.5069-9A>T (n.5069-9A>T) c.4997-9A>T (n.4997-9A>T) c.1763-9A>T (n.1763-9A>T) c.1625-9A>T (n.1625-9A>T) c.4187-9A>T (n.4187-9A>T) c.4952-9A>T (n.4952-9A>T) c.5141-9A>T (n.5141-9A>T) c.4934-9A>T (n.4934-9A>T) c.1637-9A>T (n.1637-9A>T) c.5138-9A>T (n.5138-9A>T) c.1462-9A>T c.1649-9A>T (n.1649-9A>T) c.*4858-9A>T (n.*4858-9A>T) c.1388-9A>T (n.1388-9A>T) c.5-9A>T (n.5-9A>T) c.548-9A>T (n.548-9A>T) c.-98-13770A>T (n.-98-13770A>T) n.5211-9A>T n.5252-9A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43063960T>C | CA10583554 | BRCA1 | c.5072-9A>G (n.5072-9A>G) c.5075-9A>G (n.5075-9A>G) c.4949-9A>G (n.4949-9A>G) c.5069-9A>G (n.5069-9A>G) c.4997-9A>G (n.4997-9A>G) c.1763-9A>G (n.1763-9A>G) c.1625-9A>G (n.1625-9A>G) c.4187-9A>G (n.4187-9A>G) c.4952-9A>G (n.4952-9A>G) c.5141-9A>G (n.5141-9A>G) c.4934-9A>G (n.4934-9A>G) c.1637-9A>G (n.1637-9A>G) c.5138-9A>G (n.5138-9A>G) c.1462-9A>G c.1649-9A>G (n.1649-9A>G) c.*4858-9A>G (n.*4858-9A>G) c.1388-9A>G (n.1388-9A>G) c.5-9A>G (n.5-9A>G) c.548-9A>G (n.548-9A>G) c.-98-13770A>G (n.-98-13770A>G) n.5211-9A>G n.5252-9A>G | ClinVar dbSNP gnomAD v4 |
17 | g.43063960T>G | CA658656680 | BRCA1 | c.5072-9A>C (n.5072-9A>C) c.5075-9A>C (n.5075-9A>C) c.4949-9A>C (n.4949-9A>C) c.5069-9A>C (n.5069-9A>C) c.4997-9A>C (n.4997-9A>C) c.1763-9A>C (n.1763-9A>C) c.1625-9A>C (n.1625-9A>C) c.4187-9A>C (n.4187-9A>C) c.4952-9A>C (n.4952-9A>C) c.5141-9A>C (n.5141-9A>C) c.4934-9A>C (n.4934-9A>C) c.1637-9A>C (n.1637-9A>C) c.5138-9A>C (n.5138-9A>C) c.1462-9A>C c.1649-9A>C (n.1649-9A>C) c.*4858-9A>C (n.*4858-9A>C) c.1388-9A>C (n.1388-9A>C) c.5-9A>C (n.5-9A>C) c.548-9A>C (n.548-9A>C) c.-98-13770A>C (n.-98-13770A>C) n.5211-9A>C n.5252-9A>C | ClinVar dbSNP |
17 | g.43063960T= | CA2260769597 | BRCA1 | c.5072-9A= (n.5072-9A=) c.5075-9A= (n.5075-9A=) c.4949-9A= (n.4949-9A=) c.5069-9A= (n.5069-9A=) c.4997-9A= (n.4997-9A=) c.1763-9A= (n.1763-9A=) c.1625-9A= (n.1625-9A=) c.4187-9A= (n.4187-9A=) c.4952-9A= (n.4952-9A=) c.5141-9A= (n.5141-9A=) c.4934-9A= (n.4934-9A=) c.1637-9A= (n.1637-9A=) c.5138-9A= (n.5138-9A=) c.1462-9A= c.1649-9A= (n.1649-9A=) c.*4858-9A= (n.*4858-9A=) c.1388-9A= (n.1388-9A=) c.5-9A= (n.5-9A=) c.548-9A= (n.548-9A=) c.-98-13770A= (n.-98-13770A=) n.5211-9A= n.5252-9A= | |
17 | g.43063961G>A | CA916080139 | BRCA1 | c.5072-10C>T (n.5072-10C>T) c.5075-10C>T (n.5075-10C>T) c.4949-10C>T (n.4949-10C>T) c.5069-10C>T (n.5069-10C>T) c.4997-10C>T (n.4997-10C>T) c.1763-10C>T (n.1763-10C>T) c.1625-10C>T (n.1625-10C>T) c.4187-10C>T (n.4187-10C>T) c.4952-10C>T (n.4952-10C>T) c.5141-10C>T (n.5141-10C>T) c.4934-10C>T (n.4934-10C>T) c.1637-10C>T (n.1637-10C>T) c.5138-10C>T (n.5138-10C>T) c.1462-10C>T c.1649-10C>T (n.1649-10C>T) c.*4858-10C>T (n.*4858-10C>T) c.1388-10C>T (n.1388-10C>T) c.5-10C>T (n.5-10C>T) c.548-10C>T (n.548-10C>T) c.-98-13771C>T (n.-98-13771C>T) n.5211-10C>T n.5252-10C>T | ClinVar dbSNP gnomAD v4 |
17 | g.43063961G>C | CA916080138 | BRCA1 | c.5072-10C>G (n.5072-10C>G) c.5075-10C>G (n.5075-10C>G) c.4949-10C>G (n.4949-10C>G) c.5069-10C>G (n.5069-10C>G) c.4997-10C>G (n.4997-10C>G) c.1763-10C>G (n.1763-10C>G) c.1625-10C>G (n.1625-10C>G) c.4187-10C>G (n.4187-10C>G) c.4952-10C>G (n.4952-10C>G) c.5141-10C>G (n.5141-10C>G) c.4934-10C>G (n.4934-10C>G) c.1637-10C>G (n.1637-10C>G) c.5138-10C>G (n.5138-10C>G) c.1462-10C>G c.1649-10C>G (n.1649-10C>G) c.*4858-10C>G (n.*4858-10C>G) c.1388-10C>G (n.1388-10C>G) c.5-10C>G (n.5-10C>G) c.548-10C>G (n.548-10C>G) c.-98-13771C>G (n.-98-13771C>G) n.5211-10C>G n.5252-10C>G | ClinVar dbSNP |
17 | g.43063961G= | CA2260769598 | BRCA1 | c.5072-10C= (n.5072-10C=) c.5075-10C= (n.5075-10C=) c.4949-10C= (n.4949-10C=) c.5069-10C= (n.5069-10C=) c.4997-10C= (n.4997-10C=) c.1763-10C= (n.1763-10C=) c.1625-10C= (n.1625-10C=) c.4187-10C= (n.4187-10C=) c.4952-10C= (n.4952-10C=) c.5141-10C= (n.5141-10C=) c.4934-10C= (n.4934-10C=) c.1637-10C= (n.1637-10C=) c.5138-10C= (n.5138-10C=) c.1462-10C= c.1649-10C= (n.1649-10C=) c.*4858-10C= (n.*4858-10C=) c.1388-10C= (n.1388-10C=) c.5-10C= (n.5-10C=) c.548-10C= (n.548-10C=) c.-98-13771C= (n.-98-13771C=) n.5211-10C= n.5252-10C= | |
17 | g.43063961G>T | CA916080140 | BRCA1 | c.5072-10C>A (n.5072-10C>A) c.5075-10C>A (n.5075-10C>A) c.4949-10C>A (n.4949-10C>A) c.5069-10C>A (n.5069-10C>A) c.4997-10C>A (n.4997-10C>A) c.1763-10C>A (n.1763-10C>A) c.1625-10C>A (n.1625-10C>A) c.4187-10C>A (n.4187-10C>A) c.4952-10C>A (n.4952-10C>A) c.5141-10C>A (n.5141-10C>A) c.4934-10C>A (n.4934-10C>A) c.1637-10C>A (n.1637-10C>A) c.5138-10C>A (n.5138-10C>A) c.1462-10C>A c.1649-10C>A (n.1649-10C>A) c.*4858-10C>A (n.*4858-10C>A) c.1388-10C>A (n.1388-10C>A) c.5-10C>A (n.5-10C>A) c.548-10C>A (n.548-10C>A) c.-98-13771C>A (n.-98-13771C>A) n.5211-10C>A n.5252-10C>A | ClinVar dbSNP |
17 | g.43063962A= | CA2260769599 | BRCA1 | c.5072-11T= (n.5072-11T=) c.5075-11T= (n.5075-11T=) c.4949-11T= (n.4949-11T=) c.5069-11T= (n.5069-11T=) c.4997-11T= (n.4997-11T=) c.1763-11T= (n.1763-11T=) c.1625-11T= (n.1625-11T=) c.4187-11T= (n.4187-11T=) c.4952-11T= (n.4952-11T=) c.5141-11T= (n.5141-11T=) c.4934-11T= (n.4934-11T=) c.1637-11T= (n.1637-11T=) c.5138-11T= (n.5138-11T=) c.1462-11T= c.1649-11T= (n.1649-11T=) c.*4858-11T= (n.*4858-11T=) c.1388-11T= (n.1388-11T=) c.5-11T= (n.5-11T=) c.548-11T= (n.548-11T=) c.-98-13772T= (n.-98-13772T=) n.5211-11T= n.5252-11T= | |
17 | g.43063962A>G | CA16615749 | BRCA1 | c.5072-11T>C (n.5072-11T>C) c.5075-11T>C (n.5075-11T>C) c.4949-11T>C (n.4949-11T>C) c.5069-11T>C (n.5069-11T>C) c.4997-11T>C (n.4997-11T>C) c.1763-11T>C (n.1763-11T>C) c.1625-11T>C (n.1625-11T>C) c.4187-11T>C (n.4187-11T>C) c.4952-11T>C (n.4952-11T>C) c.5141-11T>C (n.5141-11T>C) c.4934-11T>C (n.4934-11T>C) c.1637-11T>C (n.1637-11T>C) c.5138-11T>C (n.5138-11T>C) c.1462-11T>C c.1649-11T>C (n.1649-11T>C) c.*4858-11T>C (n.*4858-11T>C) c.1388-11T>C (n.1388-11T>C) c.5-11T>C (n.5-11T>C) c.548-11T>C (n.548-11T>C) c.-98-13772T>C (n.-98-13772T>C) n.5211-11T>C n.5252-11T>C | ClinVar dbSNP |
17 | g.43063963A>G | CA2499224383 | BRCA1 | c.5072-12T>C (n.5072-12T>C) c.5075-12T>C (n.5075-12T>C) c.4949-12T>C (n.4949-12T>C) c.5069-12T>C (n.5069-12T>C) c.4997-12T>C (n.4997-12T>C) c.1763-12T>C (n.1763-12T>C) c.1625-12T>C (n.1625-12T>C) c.4187-12T>C (n.4187-12T>C) c.4952-12T>C (n.4952-12T>C) c.5141-12T>C (n.5141-12T>C) c.4934-12T>C (n.4934-12T>C) c.1637-12T>C (n.1637-12T>C) c.5138-12T>C (n.5138-12T>C) c.1462-12T>C c.1649-12T>C (n.1649-12T>C) c.*4858-12T>C (n.*4858-12T>C) c.1388-12T>C (n.1388-12T>C) c.5-12T>C (n.5-12T>C) c.548-12T>C (n.548-12T>C) c.-98-13773T>C (n.-98-13773T>C) n.5211-12T>C n.5252-12T>C | ClinVar dbSNP |
17 | g.43063965A= | CA2260769600 | BRCA1 | c.5072-14T= (n.5072-14T=) c.5075-14T= (n.5075-14T=) c.4949-14T= (n.4949-14T=) c.5069-14T= (n.5069-14T=) c.4997-14T= (n.4997-14T=) c.1763-14T= (n.1763-14T=) c.1625-14T= (n.1625-14T=) c.4187-14T= (n.4187-14T=) c.4952-14T= (n.4952-14T=) c.5141-14T= (n.5141-14T=) c.4934-14T= (n.4934-14T=) c.1637-14T= (n.1637-14T=) c.5138-14T= (n.5138-14T=) c.1462-14T= c.1649-14T= (n.1649-14T=) c.*4858-14T= (n.*4858-14T=) c.1388-14T= (n.1388-14T=) c.5-14T= (n.5-14T=) c.548-14T= (n.548-14T=) c.-98-13775T= (n.-98-13775T=) n.5211-14T= n.5252-14T= | |
17 | g.43063965A>C | CA772174147 | BRCA1 | c.5072-14T>G (n.5072-14T>G) c.5075-14T>G (n.5075-14T>G) c.4949-14T>G (n.4949-14T>G) c.5069-14T>G (n.5069-14T>G) c.4997-14T>G (n.4997-14T>G) c.1763-14T>G (n.1763-14T>G) c.1625-14T>G (n.1625-14T>G) c.4187-14T>G (n.4187-14T>G) c.4952-14T>G (n.4952-14T>G) c.5141-14T>G (n.5141-14T>G) c.4934-14T>G (n.4934-14T>G) c.1637-14T>G (n.1637-14T>G) c.5138-14T>G (n.5138-14T>G) c.1462-14T>G c.1649-14T>G (n.1649-14T>G) c.*4858-14T>G (n.*4858-14T>G) c.1388-14T>G (n.1388-14T>G) c.5-14T>G (n.5-14T>G) c.548-14T>G (n.548-14T>G) c.-98-13775T>G (n.-98-13775T>G) n.5211-14T>G n.5252-14T>G | ClinVar dbSNP gnomAD v4 |
17 | g.43063965A>T | CA2733669329 | BRCA1 | c.5072-14T>A (n.5072-14T>A) c.5075-14T>A (n.5075-14T>A) c.4949-14T>A (n.4949-14T>A) c.5069-14T>A (n.5069-14T>A) c.4997-14T>A (n.4997-14T>A) c.1763-14T>A (n.1763-14T>A) c.1625-14T>A (n.1625-14T>A) c.4187-14T>A (n.4187-14T>A) c.4952-14T>A (n.4952-14T>A) c.5141-14T>A (n.5141-14T>A) c.4934-14T>A (n.4934-14T>A) c.1637-14T>A (n.1637-14T>A) c.5138-14T>A (n.5138-14T>A) c.1462-14T>A c.1649-14T>A (n.1649-14T>A) c.*4858-14T>A (n.*4858-14T>A) c.1388-14T>A (n.1388-14T>A) c.5-14T>A (n.5-14T>A) c.548-14T>A (n.548-14T>A) c.-98-13775T>A (n.-98-13775T>A) n.5211-14T>A n.5252-14T>A | dbSNP |
17 | g.43063966A>C | CA2740095372 | BRCA1 | c.5072-15T>G (n.5072-15T>G) c.5075-15T>G (n.5075-15T>G) c.4949-15T>G (n.4949-15T>G) c.5069-15T>G (n.5069-15T>G) c.4997-15T>G (n.4997-15T>G) c.1763-15T>G (n.1763-15T>G) c.1625-15T>G (n.1625-15T>G) c.4187-15T>G (n.4187-15T>G) c.4952-15T>G (n.4952-15T>G) c.5141-15T>G (n.5141-15T>G) c.4934-15T>G (n.4934-15T>G) c.1637-15T>G (n.1637-15T>G) c.5138-15T>G (n.5138-15T>G) c.1462-15T>G c.1649-15T>G (n.1649-15T>G) c.*4858-15T>G (n.*4858-15T>G) c.1388-15T>G (n.1388-15T>G) c.5-15T>G (n.5-15T>G) c.548-15T>G (n.548-15T>G) c.-98-13776T>G (n.-98-13776T>G) n.5211-15T>G n.5252-15T>G | ClinVar |
17 | g.43063967C>A | CA2733911818 | BRCA1 | c.5072-16G>T (n.5072-16G>T) c.5075-16G>T (n.5075-16G>T) c.4949-16G>T (n.4949-16G>T) c.5069-16G>T (n.5069-16G>T) c.4997-16G>T (n.4997-16G>T) c.1763-16G>T (n.1763-16G>T) c.1625-16G>T (n.1625-16G>T) c.4187-16G>T (n.4187-16G>T) c.4952-16G>T (n.4952-16G>T) c.5141-16G>T (n.5141-16G>T) c.4934-16G>T (n.4934-16G>T) c.1637-16G>T (n.1637-16G>T) c.5138-16G>T (n.5138-16G>T) c.1462-16G>T c.1649-16G>T (n.1649-16G>T) c.*4858-16G>T (n.*4858-16G>T) c.1388-16G>T (n.1388-16G>T) c.5-16G>T (n.5-16G>T) c.548-16G>T (n.548-16G>T) c.-98-13777G>T (n.-98-13777G>T) n.5211-16G>T n.5252-16G>T | dbSNP |
17 | g.43063967C>G | CA1139770774 | BRCA1 | c.5072-16G>C (n.5072-16G>C) c.5075-16G>C (n.5075-16G>C) c.4949-16G>C (n.4949-16G>C) c.5069-16G>C (n.5069-16G>C) c.4997-16G>C (n.4997-16G>C) c.1763-16G>C (n.1763-16G>C) c.1625-16G>C (n.1625-16G>C) c.4187-16G>C (n.4187-16G>C) c.4952-16G>C (n.4952-16G>C) c.5141-16G>C (n.5141-16G>C) c.4934-16G>C (n.4934-16G>C) c.1637-16G>C (n.1637-16G>C) c.5138-16G>C (n.5138-16G>C) c.1462-16G>C c.1649-16G>C (n.1649-16G>C) c.*4858-16G>C (n.*4858-16G>C) c.1388-16G>C (n.1388-16G>C) c.5-16G>C (n.5-16G>C) c.548-16G>C (n.548-16G>C) c.-98-13777G>C (n.-98-13777G>C) n.5211-16G>C n.5252-16G>C | dbSNP |
17 | g.43063967C>T | CA2638061592 | BRCA1 | c.5072-16G>A (n.5072-16G>A) c.5075-16G>A (n.5075-16G>A) c.4949-16G>A (n.4949-16G>A) c.5069-16G>A (n.5069-16G>A) c.4997-16G>A (n.4997-16G>A) c.1763-16G>A (n.1763-16G>A) c.1625-16G>A (n.1625-16G>A) c.4187-16G>A (n.4187-16G>A) c.4952-16G>A (n.4952-16G>A) c.5141-16G>A (n.5141-16G>A) c.4934-16G>A (n.4934-16G>A) c.1637-16G>A (n.1637-16G>A) c.5138-16G>A (n.5138-16G>A) c.1462-16G>A c.1649-16G>A (n.1649-16G>A) c.*4858-16G>A (n.*4858-16G>A) c.1388-16G>A (n.1388-16G>A) c.5-16G>A (n.5-16G>A) c.548-16G>A (n.548-16G>A) c.-98-13777G>A (n.-98-13777G>A) n.5211-16G>A n.5252-16G>A | dbSNP gnomAD v4 |
17 | g.43063968A= | CA2260769601 | BRCA1 | c.5072-17T= (n.5072-17T=) c.5075-17T= (n.5075-17T=) c.4949-17T= (n.4949-17T=) c.5069-17T= (n.5069-17T=) c.4997-17T= (n.4997-17T=) c.1763-17T= (n.1763-17T=) c.1625-17T= (n.1625-17T=) c.4187-17T= (n.4187-17T=) c.4952-17T= (n.4952-17T=) c.5141-17T= (n.5141-17T=) c.4934-17T= (n.4934-17T=) c.1637-17T= (n.1637-17T=) c.5138-17T= (n.5138-17T=) c.1462-17T= c.1649-17T= (n.1649-17T=) c.*4858-17T= (n.*4858-17T=) c.1388-17T= (n.1388-17T=) c.5-17T= (n.5-17T=) c.548-17T= (n.548-17T=) c.-98-13778T= (n.-98-13778T=) n.5211-17T= n.5252-17T= | |
17 | g.43063968A>T | CA626080904 | BRCA1 | c.5072-17T>A (n.5072-17T>A) c.5075-17T>A (n.5075-17T>A) c.4949-17T>A (n.4949-17T>A) c.5069-17T>A (n.5069-17T>A) c.4997-17T>A (n.4997-17T>A) c.1763-17T>A (n.1763-17T>A) c.1625-17T>A (n.1625-17T>A) c.4187-17T>A (n.4187-17T>A) c.4952-17T>A (n.4952-17T>A) c.5141-17T>A (n.5141-17T>A) c.4934-17T>A (n.4934-17T>A) c.1637-17T>A (n.1637-17T>A) c.5138-17T>A (n.5138-17T>A) c.1462-17T>A c.1649-17T>A (n.1649-17T>A) c.*4858-17T>A (n.*4858-17T>A) c.1388-17T>A (n.1388-17T>A) c.5-17T>A (n.5-17T>A) c.548-17T>A (n.548-17T>A) c.-98-13778T>A (n.-98-13778T>A) n.5211-17T>A n.5252-17T>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.43063969C>A | CA915950086 | BRCA1 | c.5072-18G>T (n.5072-18G>T) c.5075-18G>T (n.5075-18G>T) c.4949-18G>T (n.4949-18G>T) c.5069-18G>T (n.5069-18G>T) c.4997-18G>T (n.4997-18G>T) c.1763-18G>T (n.1763-18G>T) c.1625-18G>T (n.1625-18G>T) c.4187-18G>T (n.4187-18G>T) c.4952-18G>T (n.4952-18G>T) c.5141-18G>T (n.5141-18G>T) c.4934-18G>T (n.4934-18G>T) c.1637-18G>T (n.1637-18G>T) c.5138-18G>T (n.5138-18G>T) c.1462-18G>T c.1649-18G>T (n.1649-18G>T) c.*4858-18G>T (n.*4858-18G>T) c.1388-18G>T (n.1388-18G>T) c.5-18G>T (n.5-18G>T) c.548-18G>T (n.548-18G>T) c.-98-13779G>T (n.-98-13779G>T) n.5211-18G>T n.5252-18G>T | ClinVar dbSNP |
17 | g.43063969C= | CA2260769602 | BRCA1 | c.5072-18G= (n.5072-18G=) c.5075-18G= (n.5075-18G=) c.4949-18G= (n.4949-18G=) c.5069-18G= (n.5069-18G=) c.4997-18G= (n.4997-18G=) c.1763-18G= (n.1763-18G=) c.1625-18G= (n.1625-18G=) c.4187-18G= (n.4187-18G=) c.4952-18G= (n.4952-18G=) c.5141-18G= (n.5141-18G=) c.4934-18G= (n.4934-18G=) c.1637-18G= (n.1637-18G=) c.5138-18G= (n.5138-18G=) c.1462-18G= c.1649-18G= (n.1649-18G=) c.*4858-18G= (n.*4858-18G=) c.1388-18G= (n.1388-18G=) c.5-18G= (n.5-18G=) c.548-18G= (n.548-18G=) c.-98-13779G= (n.-98-13779G=) n.5211-18G= n.5252-18G= | |
17 | g.43063969C>G | CA2733658924 | BRCA1 | c.5072-18G>C (n.5072-18G>C) c.5075-18G>C (n.5075-18G>C) c.4949-18G>C (n.4949-18G>C) c.5069-18G>C (n.5069-18G>C) c.4997-18G>C (n.4997-18G>C) c.1763-18G>C (n.1763-18G>C) c.1625-18G>C (n.1625-18G>C) c.4187-18G>C (n.4187-18G>C) c.4952-18G>C (n.4952-18G>C) c.5141-18G>C (n.5141-18G>C) c.4934-18G>C (n.4934-18G>C) c.1637-18G>C (n.1637-18G>C) c.5138-18G>C (n.5138-18G>C) c.1462-18G>C c.1649-18G>C (n.1649-18G>C) c.*4858-18G>C (n.*4858-18G>C) c.1388-18G>C (n.1388-18G>C) c.5-18G>C (n.5-18G>C) c.548-18G>C (n.548-18G>C) c.-98-13779G>C (n.-98-13779G>C) n.5211-18G>C n.5252-18G>C | dbSNP |
17 | g.43063969C>T | CA16615377 | BRCA1 | c.5072-18G>A (n.5072-18G>A) c.5075-18G>A (n.5075-18G>A) c.4949-18G>A (n.4949-18G>A) c.5069-18G>A (n.5069-18G>A) c.4997-18G>A (n.4997-18G>A) c.1763-18G>A (n.1763-18G>A) c.1625-18G>A (n.1625-18G>A) c.4187-18G>A (n.4187-18G>A) c.4952-18G>A (n.4952-18G>A) c.5141-18G>A (n.5141-18G>A) c.4934-18G>A (n.4934-18G>A) c.1637-18G>A (n.1637-18G>A) c.5138-18G>A (n.5138-18G>A) c.1462-18G>A c.1649-18G>A (n.1649-18G>A) c.*4858-18G>A (n.*4858-18G>A) c.1388-18G>A (n.1388-18G>A) c.5-18G>A (n.5-18G>A) c.548-18G>A (n.548-18G>A) c.-98-13779G>A (n.-98-13779G>A) n.5211-18G>A n.5252-18G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43063970T>A | CA2638061593 | BRCA1 | c.5072-19A>T (n.5072-19A>T) c.5075-19A>T (n.5075-19A>T) c.4949-19A>T (n.4949-19A>T) c.5069-19A>T (n.5069-19A>T) c.4997-19A>T (n.4997-19A>T) c.1763-19A>T (n.1763-19A>T) c.1625-19A>T (n.1625-19A>T) c.4187-19A>T (n.4187-19A>T) c.4952-19A>T (n.4952-19A>T) c.5141-19A>T (n.5141-19A>T) c.4934-19A>T (n.4934-19A>T) c.1637-19A>T (n.1637-19A>T) c.5138-19A>T (n.5138-19A>T) c.1462-19A>T c.1649-19A>T (n.1649-19A>T) c.*4858-19A>T (n.*4858-19A>T) c.1388-19A>T (n.1388-19A>T) c.5-19A>T (n.5-19A>T) c.548-19A>T (n.548-19A>T) c.-98-13780A>T (n.-98-13780A>T) n.5211-19A>T n.5252-19A>T | dbSNP gnomAD v4 |
17 | g.43063970T>C | CA658798076 | BRCA1 | c.5072-19A>G (n.5072-19A>G) c.5075-19A>G (n.5075-19A>G) c.4949-19A>G (n.4949-19A>G) c.5069-19A>G (n.5069-19A>G) c.4997-19A>G (n.4997-19A>G) c.1763-19A>G (n.1763-19A>G) c.1625-19A>G (n.1625-19A>G) c.4187-19A>G (n.4187-19A>G) c.4952-19A>G (n.4952-19A>G) c.5141-19A>G (n.5141-19A>G) c.4934-19A>G (n.4934-19A>G) c.1637-19A>G (n.1637-19A>G) c.5138-19A>G (n.5138-19A>G) c.1462-19A>G c.1649-19A>G (n.1649-19A>G) c.*4858-19A>G (n.*4858-19A>G) c.1388-19A>G (n.1388-19A>G) c.5-19A>G (n.5-19A>G) c.548-19A>G (n.548-19A>G) c.-98-13780A>G (n.-98-13780A>G) n.5211-19A>G n.5252-19A>G | ClinVar dbSNP |
17 | g.43063970T= | CA2260769603 | BRCA1 | c.5072-19A= (n.5072-19A=) c.5075-19A= (n.5075-19A=) c.4949-19A= (n.4949-19A=) c.5069-19A= (n.5069-19A=) c.4997-19A= (n.4997-19A=) c.1763-19A= (n.1763-19A=) c.1625-19A= (n.1625-19A=) c.4187-19A= (n.4187-19A=) c.4952-19A= (n.4952-19A=) c.5141-19A= (n.5141-19A=) c.4934-19A= (n.4934-19A=) c.1637-19A= (n.1637-19A=) c.5138-19A= (n.5138-19A=) c.1462-19A= c.1649-19A= (n.1649-19A=) c.*4858-19A= (n.*4858-19A=) c.1388-19A= (n.1388-19A=) c.5-19A= (n.5-19A=) c.548-19A= (n.548-19A=) c.-98-13780A= (n.-98-13780A=) n.5211-19A= n.5252-19A= | |
17 | g.43063971C>A | CA2733911885 | BRCA1 | c.5072-20G>T (n.5072-20G>T) c.5075-20G>T (n.5075-20G>T) c.4949-20G>T (n.4949-20G>T) c.5069-20G>T (n.5069-20G>T) c.4997-20G>T (n.4997-20G>T) c.1763-20G>T (n.1763-20G>T) c.1625-20G>T (n.1625-20G>T) c.4187-20G>T (n.4187-20G>T) c.4952-20G>T (n.4952-20G>T) c.5141-20G>T (n.5141-20G>T) c.4934-20G>T (n.4934-20G>T) c.1637-20G>T (n.1637-20G>T) c.5138-20G>T (n.5138-20G>T) c.1462-20G>T c.1649-20G>T (n.1649-20G>T) c.*4858-20G>T (n.*4858-20G>T) c.1388-20G>T (n.1388-20G>T) c.5-20G>T (n.5-20G>T) c.548-20G>T (n.548-20G>T) c.-98-13781G>T (n.-98-13781G>T) n.5211-20G>T n.5252-20G>T | dbSNP |
17 | g.43063971C>G | CA2733911890 | BRCA1 | c.5072-20G>C (n.5072-20G>C) c.5075-20G>C (n.5075-20G>C) c.4949-20G>C (n.4949-20G>C) c.5069-20G>C (n.5069-20G>C) c.4997-20G>C (n.4997-20G>C) c.1763-20G>C (n.1763-20G>C) c.1625-20G>C (n.1625-20G>C) c.4187-20G>C (n.4187-20G>C) c.4952-20G>C (n.4952-20G>C) c.5141-20G>C (n.5141-20G>C) c.4934-20G>C (n.4934-20G>C) c.1637-20G>C (n.1637-20G>C) c.5138-20G>C (n.5138-20G>C) c.1462-20G>C c.1649-20G>C (n.1649-20G>C) c.*4858-20G>C (n.*4858-20G>C) c.1388-20G>C (n.1388-20G>C) c.5-20G>C (n.5-20G>C) c.548-20G>C (n.548-20G>C) c.-98-13781G>C (n.-98-13781G>C) n.5211-20G>C n.5252-20G>C | dbSNP |
17 | g.43063971C>T | CA2573154092 | BRCA1 | c.5072-20G>A (n.5072-20G>A) c.5075-20G>A (n.5075-20G>A) c.4949-20G>A (n.4949-20G>A) c.5069-20G>A (n.5069-20G>A) c.4997-20G>A (n.4997-20G>A) c.1763-20G>A (n.1763-20G>A) c.1625-20G>A (n.1625-20G>A) c.4187-20G>A (n.4187-20G>A) c.4952-20G>A (n.4952-20G>A) c.5141-20G>A (n.5141-20G>A) c.4934-20G>A (n.4934-20G>A) c.1637-20G>A (n.1637-20G>A) c.5138-20G>A (n.5138-20G>A) c.1462-20G>A c.1649-20G>A (n.1649-20G>A) c.*4858-20G>A (n.*4858-20G>A) c.1388-20G>A (n.1388-20G>A) c.5-20G>A (n.5-20G>A) c.548-20G>A (n.548-20G>A) c.-98-13781G>A (n.-98-13781G>A) n.5211-20G>A n.5252-20G>A | ClinVar dbSNP gnomAD v4 |
17 | g.43063972A>G | CA2733911944 | BRCA1 | c.5072-21T>C (n.5072-21T>C) c.5075-21T>C (n.5075-21T>C) c.4949-21T>C (n.4949-21T>C) c.5069-21T>C (n.5069-21T>C) c.4997-21T>C (n.4997-21T>C) c.1763-21T>C (n.1763-21T>C) c.1625-21T>C (n.1625-21T>C) c.4187-21T>C (n.4187-21T>C) c.4952-21T>C (n.4952-21T>C) c.5141-21T>C (n.5141-21T>C) c.4934-21T>C (n.4934-21T>C) c.1637-21T>C (n.1637-21T>C) c.5138-21T>C (n.5138-21T>C) c.1462-21T>C c.1649-21T>C (n.1649-21T>C) c.*4858-21T>C (n.*4858-21T>C) c.1388-21T>C (n.1388-21T>C) c.5-21T>C (n.5-21T>C) c.548-21T>C (n.548-21T>C) c.-98-13782T>C (n.-98-13782T>C) n.5211-21T>C n.5252-21T>C | dbSNP |
17 | g.43063974dup | CA2576282188 | BRCA1 | c.5072-21dup (n.5072-21dup) c.5075-21dup (n.5075-21dup) c.4949-21dup (n.4949-21dup) c.5069-21dup (n.5069-21dup) c.4997-21dup (n.4997-21dup) c.1763-21dup (n.1763-21dup) c.1625-21dup (n.1625-21dup) c.4187-21dup (n.4187-21dup) c.4952-21dup (n.4952-21dup) c.5141-21dup (n.5141-21dup) c.4934-21dup (n.4934-21dup) c.1637-21dup (n.1637-21dup) c.5138-21dup (n.5138-21dup) c.1462-21dup c.1649-21dup (n.1649-21dup) c.*4858-21dup (n.*4858-21dup) c.1388-21dup (n.1388-21dup) c.5-21dup (n.5-21dup) c.548-21dup (n.548-21dup) c.-98-13782dup (n.-98-13782dup) n.5211-21dup n.5252-21dup | gnomAD v4 |
17 | g.43063974A>C | CA2638061594 | BRCA1 | c.5072-23T>G (n.5072-23T>G) c.5075-23T>G (n.5075-23T>G) c.4949-23T>G (n.4949-23T>G) c.5069-23T>G (n.5069-23T>G) c.4997-23T>G (n.4997-23T>G) c.1763-23T>G (n.1763-23T>G) c.1625-23T>G (n.1625-23T>G) c.4187-23T>G (n.4187-23T>G) c.4952-23T>G (n.4952-23T>G) c.5141-23T>G (n.5141-23T>G) c.4934-23T>G (n.4934-23T>G) c.1637-23T>G (n.1637-23T>G) c.5138-23T>G (n.5138-23T>G) c.1462-23T>G c.1649-23T>G (n.1649-23T>G) c.*4858-23T>G (n.*4858-23T>G) c.1388-23T>G (n.1388-23T>G) c.5-23T>G (n.5-23T>G) c.548-23T>G (n.548-23T>G) c.-98-13784T>G (n.-98-13784T>G) n.5211-23T>G n.5252-23T>G | gnomAD v4 |
17 | g.43063975G>A | CA290825930 | BRCA1 | c.5072-24C>T (n.5072-24C>T) c.5075-24C>T (n.5075-24C>T) c.4949-24C>T (n.4949-24C>T) c.5069-24C>T (n.5069-24C>T) c.4997-24C>T (n.4997-24C>T) c.1763-24C>T (n.1763-24C>T) c.1625-24C>T (n.1625-24C>T) c.4187-24C>T (n.4187-24C>T) c.4952-24C>T (n.4952-24C>T) c.5141-24C>T (n.5141-24C>T) c.4934-24C>T (n.4934-24C>T) c.1637-24C>T (n.1637-24C>T) c.5138-24C>T (n.5138-24C>T) c.1462-24C>T c.1649-24C>T (n.1649-24C>T) c.*4858-24C>T (n.*4858-24C>T) c.1388-24C>T (n.1388-24C>T) c.5-24C>T (n.5-24C>T) c.548-24C>T (n.548-24C>T) c.-98-13785C>T (n.-98-13785C>T) n.5211-24C>T n.5252-24C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43063975G>C | CA2733656901 | BRCA1 | c.5072-24C>G (n.5072-24C>G) c.5075-24C>G (n.5075-24C>G) c.4949-24C>G (n.4949-24C>G) c.5069-24C>G (n.5069-24C>G) c.4997-24C>G (n.4997-24C>G) c.1763-24C>G (n.1763-24C>G) c.1625-24C>G (n.1625-24C>G) c.4187-24C>G (n.4187-24C>G) c.4952-24C>G (n.4952-24C>G) c.5141-24C>G (n.5141-24C>G) c.4934-24C>G (n.4934-24C>G) c.1637-24C>G (n.1637-24C>G) c.5138-24C>G (n.5138-24C>G) c.1462-24C>G c.1649-24C>G (n.1649-24C>G) c.*4858-24C>G (n.*4858-24C>G) c.1388-24C>G (n.1388-24C>G) c.5-24C>G (n.5-24C>G) c.548-24C>G (n.548-24C>G) c.-98-13785C>G (n.-98-13785C>G) n.5211-24C>G n.5252-24C>G | dbSNP |
17 | g.43063975G= | CA2260769604 | BRCA1 | c.5072-24C= (n.5072-24C=) c.5075-24C= (n.5075-24C=) c.4949-24C= (n.4949-24C=) c.5069-24C= (n.5069-24C=) c.4997-24C= (n.4997-24C=) c.1763-24C= (n.1763-24C=) c.1625-24C= (n.1625-24C=) c.4187-24C= (n.4187-24C=) c.4952-24C= (n.4952-24C=) c.5141-24C= (n.5141-24C=) c.4934-24C= (n.4934-24C=) c.1637-24C= (n.1637-24C=) c.5138-24C= (n.5138-24C=) c.1462-24C= c.1649-24C= (n.1649-24C=) c.*4858-24C= (n.*4858-24C=) c.1388-24C= (n.1388-24C=) c.5-24C= (n.5-24C=) c.548-24C= (n.548-24C=) c.-98-13785C= (n.-98-13785C=) n.5211-24C= n.5252-24C= | |
17 | g.43063976del | CA2638061595 | BRCA1 | c.5072-24del (n.5072-24del) c.5075-24del (n.5075-24del) c.4949-24del (n.4949-24del) c.5069-24del (n.5069-24del) c.4997-24del (n.4997-24del) c.1763-24del (n.1763-24del) c.1625-24del (n.1625-24del) c.4187-24del (n.4187-24del) c.4952-24del (n.4952-24del) c.5141-24del (n.5141-24del) c.4934-24del (n.4934-24del) c.1637-24del (n.1637-24del) c.5138-24del (n.5138-24del) c.1462-24del c.1649-24del (n.1649-24del) c.*4858-24del (n.*4858-24del) c.1388-24del (n.1388-24del) c.5-24del (n.5-24del) c.548-24del (n.548-24del) c.-98-13785del (n.-98-13785del) n.5211-24del n.5252-24del | gnomAD v4 |
17 | g.43063976G>A | CA2638061596 | BRCA1 | c.5072-25C>T (n.5072-25C>T) c.5075-25C>T (n.5075-25C>T) c.4949-25C>T (n.4949-25C>T) c.5069-25C>T (n.5069-25C>T) c.4997-25C>T (n.4997-25C>T) c.1763-25C>T (n.1763-25C>T) c.1625-25C>T (n.1625-25C>T) c.4187-25C>T (n.4187-25C>T) c.4952-25C>T (n.4952-25C>T) c.5141-25C>T (n.5141-25C>T) c.4934-25C>T (n.4934-25C>T) c.1637-25C>T (n.1637-25C>T) c.5138-25C>T (n.5138-25C>T) c.1462-25C>T c.1649-25C>T (n.1649-25C>T) c.*4858-25C>T (n.*4858-25C>T) c.1388-25C>T (n.1388-25C>T) c.5-25C>T (n.5-25C>T) c.548-25C>T (n.548-25C>T) c.-98-13786C>T (n.-98-13786C>T) n.5211-25C>T n.5252-25C>T | dbSNP gnomAD v4 |
17 | g.43063976G>C | CA2733911961 | BRCA1 | c.5072-25C>G (n.5072-25C>G) c.5075-25C>G (n.5075-25C>G) c.4949-25C>G (n.4949-25C>G) c.5069-25C>G (n.5069-25C>G) c.4997-25C>G (n.4997-25C>G) c.1763-25C>G (n.1763-25C>G) c.1625-25C>G (n.1625-25C>G) c.4187-25C>G (n.4187-25C>G) c.4952-25C>G (n.4952-25C>G) c.5141-25C>G (n.5141-25C>G) c.4934-25C>G (n.4934-25C>G) c.1637-25C>G (n.1637-25C>G) c.5138-25C>G (n.5138-25C>G) c.1462-25C>G c.1649-25C>G (n.1649-25C>G) c.*4858-25C>G (n.*4858-25C>G) c.1388-25C>G (n.1388-25C>G) c.5-25C>G (n.5-25C>G) c.548-25C>G (n.548-25C>G) c.-98-13786C>G (n.-98-13786C>G) n.5211-25C>G n.5252-25C>G | dbSNP |
17 | g.43063978T>A | CA2733646342 | BRCA1 | c.5072-27A>T (n.5072-27A>T) c.5075-27A>T (n.5075-27A>T) c.4949-27A>T (n.4949-27A>T) c.5069-27A>T (n.5069-27A>T) c.4997-27A>T (n.4997-27A>T) c.1763-27A>T (n.1763-27A>T) c.1625-27A>T (n.1625-27A>T) c.4187-27A>T (n.4187-27A>T) c.4952-27A>T (n.4952-27A>T) c.5141-27A>T (n.5141-27A>T) c.4934-27A>T (n.4934-27A>T) c.1637-27A>T (n.1637-27A>T) c.5138-27A>T (n.5138-27A>T) c.1462-27A>T c.1649-27A>T (n.1649-27A>T) c.*4858-27A>T (n.*4858-27A>T) c.1388-27A>T (n.1388-27A>T) c.5-27A>T (n.5-27A>T) c.548-27A>T (n.548-27A>T) c.-98-13788A>T (n.-98-13788A>T) n.5211-27A>T n.5252-27A>T | dbSNP |
17 | g.43063978T>C | CA2638061597 | BRCA1 | c.5072-27A>G (n.5072-27A>G) c.5075-27A>G (n.5075-27A>G) c.4949-27A>G (n.4949-27A>G) c.5069-27A>G (n.5069-27A>G) c.4997-27A>G (n.4997-27A>G) c.1763-27A>G (n.1763-27A>G) c.1625-27A>G (n.1625-27A>G) c.4187-27A>G (n.4187-27A>G) c.4952-27A>G (n.4952-27A>G) c.5141-27A>G (n.5141-27A>G) c.4934-27A>G (n.4934-27A>G) c.1637-27A>G (n.1637-27A>G) c.5138-27A>G (n.5138-27A>G) c.1462-27A>G c.1649-27A>G (n.1649-27A>G) c.*4858-27A>G (n.*4858-27A>G) c.1388-27A>G (n.1388-27A>G) c.5-27A>G (n.5-27A>G) c.548-27A>G (n.548-27A>G) c.-98-13788A>G (n.-98-13788A>G) n.5211-27A>G n.5252-27A>G | gnomAD v4 |
17 | g.43063978T>G | CA053838 | BRCA1 | c.5072-27A>C (n.5072-27A>C) c.5075-27A>C (n.5075-27A>C) c.4949-27A>C (n.4949-27A>C) c.5069-27A>C (n.5069-27A>C) c.4997-27A>C (n.4997-27A>C) c.1763-27A>C (n.1763-27A>C) c.1625-27A>C (n.1625-27A>C) c.4187-27A>C (n.4187-27A>C) c.4952-27A>C (n.4952-27A>C) c.5141-27A>C (n.5141-27A>C) c.4934-27A>C (n.4934-27A>C) c.1637-27A>C (n.1637-27A>C) c.5138-27A>C (n.5138-27A>C) c.1462-27A>C c.1649-27A>C (n.1649-27A>C) c.*4858-27A>C (n.*4858-27A>C) c.1388-27A>C (n.1388-27A>C) c.5-27A>C (n.5-27A>C) c.548-27A>C (n.548-27A>C) c.-98-13788A>C (n.-98-13788A>C) n.5211-27A>C n.5252-27A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43063978T= | CA2260769605 | BRCA1 | c.5072-27A= (n.5072-27A=) c.5075-27A= (n.5075-27A=) c.4949-27A= (n.4949-27A=) c.5069-27A= (n.5069-27A=) c.4997-27A= (n.4997-27A=) c.1763-27A= (n.1763-27A=) c.1625-27A= (n.1625-27A=) c.4187-27A= (n.4187-27A=) c.4952-27A= (n.4952-27A=) c.5141-27A= (n.5141-27A=) c.4934-27A= (n.4934-27A=) c.1637-27A= (n.1637-27A=) c.5138-27A= (n.5138-27A=) c.1462-27A= c.1649-27A= (n.1649-27A=) c.*4858-27A= (n.*4858-27A=) c.1388-27A= (n.1388-27A=) c.5-27A= (n.5-27A=) c.548-27A= (n.548-27A=) c.-98-13788A= (n.-98-13788A=) n.5211-27A= n.5252-27A= | |
17 | g.43063979del | CA2695226124 | BRCA1 | c.5072-27del (n.5072-27del) c.5075-27del (n.5075-27del) c.4949-27del (n.4949-27del) c.5069-27del (n.5069-27del) c.4997-27del (n.4997-27del) c.1763-27del (n.1763-27del) c.1625-27del (n.1625-27del) c.4187-27del (n.4187-27del) c.4952-27del (n.4952-27del) c.5141-27del (n.5141-27del) c.4934-27del (n.4934-27del) c.1637-27del (n.1637-27del) c.5138-27del (n.5138-27del) c.1462-27del c.1649-27del (n.1649-27del) c.*4858-27del (n.*4858-27del) c.1388-27del (n.1388-27del) c.5-27del (n.5-27del) c.548-27del (n.548-27del) c.-98-13788del (n.-98-13788del) n.5211-27del n.5252-27del | |
17 | g.43063979T>A | CA2733911963 | BRCA1 | c.5072-28A>T (n.5072-28A>T) c.5075-28A>T (n.5075-28A>T) c.4949-28A>T (n.4949-28A>T) c.5069-28A>T (n.5069-28A>T) c.4997-28A>T (n.4997-28A>T) c.1763-28A>T (n.1763-28A>T) c.1625-28A>T (n.1625-28A>T) c.4187-28A>T (n.4187-28A>T) c.4952-28A>T (n.4952-28A>T) c.5141-28A>T (n.5141-28A>T) c.4934-28A>T (n.4934-28A>T) c.1637-28A>T (n.1637-28A>T) c.5138-28A>T (n.5138-28A>T) c.1462-28A>T c.1649-28A>T (n.1649-28A>T) c.*4858-28A>T (n.*4858-28A>T) c.1388-28A>T (n.1388-28A>T) c.5-28A>T (n.5-28A>T) c.548-28A>T (n.548-28A>T) c.-98-13789A>T (n.-98-13789A>T) n.5211-28A>T n.5252-28A>T | dbSNP |
17 | g.43063980A>G | CA2733911980 | BRCA1 | c.5072-29T>C (n.5072-29T>C) c.5075-29T>C (n.5075-29T>C) c.4949-29T>C (n.4949-29T>C) c.5069-29T>C (n.5069-29T>C) c.4997-29T>C (n.4997-29T>C) c.1763-29T>C (n.1763-29T>C) c.1625-29T>C (n.1625-29T>C) c.4187-29T>C (n.4187-29T>C) c.4952-29T>C (n.4952-29T>C) c.5141-29T>C (n.5141-29T>C) c.4934-29T>C (n.4934-29T>C) c.1637-29T>C (n.1637-29T>C) c.5138-29T>C (n.5138-29T>C) c.1462-29T>C c.1649-29T>C (n.1649-29T>C) c.*4858-29T>C (n.*4858-29T>C) c.1388-29T>C (n.1388-29T>C) c.5-29T>C (n.5-29T>C) c.548-29T>C (n.548-29T>C) c.-98-13790T>C (n.-98-13790T>C) n.5211-29T>C n.5252-29T>C | dbSNP |
17 | g.43063981G>A | CA2733911985 | BRCA1 | c.5072-30C>T (n.5072-30C>T) c.5075-30C>T (n.5075-30C>T) c.4949-30C>T (n.4949-30C>T) c.5069-30C>T (n.5069-30C>T) c.4997-30C>T (n.4997-30C>T) c.1763-30C>T (n.1763-30C>T) c.1625-30C>T (n.1625-30C>T) c.4187-30C>T (n.4187-30C>T) c.4952-30C>T (n.4952-30C>T) c.5141-30C>T (n.5141-30C>T) c.4934-30C>T (n.4934-30C>T) c.1637-30C>T (n.1637-30C>T) c.5138-30C>T (n.5138-30C>T) c.1462-30C>T c.1649-30C>T (n.1649-30C>T) c.*4858-30C>T (n.*4858-30C>T) c.1388-30C>T (n.1388-30C>T) c.5-30C>T (n.5-30C>T) c.548-30C>T (n.548-30C>T) c.-98-13791C>T (n.-98-13791C>T) n.5211-30C>T n.5252-30C>T | dbSNP |
17 | g.43063981G>C | CA2733912018 | BRCA1 | c.5072-30C>G (n.5072-30C>G) c.5075-30C>G (n.5075-30C>G) c.4949-30C>G (n.4949-30C>G) c.5069-30C>G (n.5069-30C>G) c.4997-30C>G (n.4997-30C>G) c.1763-30C>G (n.1763-30C>G) c.1625-30C>G (n.1625-30C>G) c.4187-30C>G (n.4187-30C>G) c.4952-30C>G (n.4952-30C>G) c.5141-30C>G (n.5141-30C>G) c.4934-30C>G (n.4934-30C>G) c.1637-30C>G (n.1637-30C>G) c.5138-30C>G (n.5138-30C>G) c.1462-30C>G c.1649-30C>G (n.1649-30C>G) c.*4858-30C>G (n.*4858-30C>G) c.1388-30C>G (n.1388-30C>G) c.5-30C>G (n.5-30C>G) c.548-30C>G (n.548-30C>G) c.-98-13791C>G (n.-98-13791C>G) n.5211-30C>G n.5252-30C>G | dbSNP |
17 | g.43063981G>T | CA2545802606 | BRCA1 | c.5072-30C>A (n.5072-30C>A) c.5075-30C>A (n.5075-30C>A) c.4949-30C>A (n.4949-30C>A) c.5069-30C>A (n.5069-30C>A) c.4997-30C>A (n.4997-30C>A) c.1763-30C>A (n.1763-30C>A) c.1625-30C>A (n.1625-30C>A) c.4187-30C>A (n.4187-30C>A) c.4952-30C>A (n.4952-30C>A) c.5141-30C>A (n.5141-30C>A) c.4934-30C>A (n.4934-30C>A) c.1637-30C>A (n.1637-30C>A) c.5138-30C>A (n.5138-30C>A) c.1462-30C>A c.1649-30C>A (n.1649-30C>A) c.*4858-30C>A (n.*4858-30C>A) c.1388-30C>A (n.1388-30C>A) c.5-30C>A (n.5-30C>A) c.548-30C>A (n.548-30C>A) c.-98-13791C>A (n.-98-13791C>A) n.5211-30C>A n.5252-30C>A | |
17 | g.43063982A>G | CA2733912105 | BRCA1 | c.5072-31T>C (n.5072-31T>C) c.5075-31T>C (n.5075-31T>C) c.4949-31T>C (n.4949-31T>C) c.5069-31T>C (n.5069-31T>C) c.4997-31T>C (n.4997-31T>C) c.1763-31T>C (n.1763-31T>C) c.1625-31T>C (n.1625-31T>C) c.4187-31T>C (n.4187-31T>C) c.4952-31T>C (n.4952-31T>C) c.5141-31T>C (n.5141-31T>C) c.4934-31T>C (n.4934-31T>C) c.1637-31T>C (n.1637-31T>C) c.5138-31T>C (n.5138-31T>C) c.1462-31T>C c.1649-31T>C (n.1649-31T>C) c.*4858-31T>C (n.*4858-31T>C) c.1388-31T>C (n.1388-31T>C) c.5-31T>C (n.5-31T>C) c.548-31T>C (n.548-31T>C) c.-98-13792T>C (n.-98-13792T>C) n.5211-31T>C n.5252-31T>C | dbSNP |
17 | g.43063983A= | CA2260769606 | BRCA1 | c.5072-32T= (n.5072-32T=) c.5075-32T= (n.5075-32T=) c.4949-32T= (n.4949-32T=) c.5069-32T= (n.5069-32T=) c.4997-32T= (n.4997-32T=) c.1763-32T= (n.1763-32T=) c.1625-32T= (n.1625-32T=) c.4187-32T= (n.4187-32T=) c.4952-32T= (n.4952-32T=) c.5141-32T= (n.5141-32T=) c.4934-32T= (n.4934-32T=) c.1637-32T= (n.1637-32T=) c.5138-32T= (n.5138-32T=) c.1462-32T= c.1649-32T= (n.1649-32T=) c.*4858-32T= (n.*4858-32T=) c.1388-32T= (n.1388-32T=) c.5-32T= (n.5-32T=) c.548-32T= (n.548-32T=) c.-98-13793T= (n.-98-13793T=) n.5211-32T= n.5252-32T= | |
17 | g.43063983A>G | CA053845 | BRCA1 | c.5072-32T>C (n.5072-32T>C) c.5075-32T>C (n.5075-32T>C) c.4949-32T>C (n.4949-32T>C) c.5069-32T>C (n.5069-32T>C) c.4997-32T>C (n.4997-32T>C) c.1763-32T>C (n.1763-32T>C) c.1625-32T>C (n.1625-32T>C) c.4187-32T>C (n.4187-32T>C) c.4952-32T>C (n.4952-32T>C) c.5141-32T>C (n.5141-32T>C) c.4934-32T>C (n.4934-32T>C) c.1637-32T>C (n.1637-32T>C) c.5138-32T>C (n.5138-32T>C) c.1462-32T>C c.1649-32T>C (n.1649-32T>C) c.*4858-32T>C (n.*4858-32T>C) c.1388-32T>C (n.1388-32T>C) c.5-32T>C (n.5-32T>C) c.548-32T>C (n.548-32T>C) c.-98-13793T>C (n.-98-13793T>C) n.5211-32T>C n.5252-32T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43063984G>A | CA053848 | BRCA1 | c.5072-33C>T (n.5072-33C>T) c.5075-33C>T (n.5075-33C>T) c.4949-33C>T (n.4949-33C>T) c.5069-33C>T (n.5069-33C>T) c.4997-33C>T (n.4997-33C>T) c.1763-33C>T (n.1763-33C>T) c.1625-33C>T (n.1625-33C>T) c.4187-33C>T (n.4187-33C>T) c.4952-33C>T (n.4952-33C>T) c.5141-33C>T (n.5141-33C>T) c.4934-33C>T (n.4934-33C>T) c.1637-33C>T (n.1637-33C>T) c.5138-33C>T (n.5138-33C>T) c.1462-33C>T c.1649-33C>T (n.1649-33C>T) c.*4858-33C>T (n.*4858-33C>T) c.1388-33C>T (n.1388-33C>T) c.5-33C>T (n.5-33C>T) c.548-33C>T (n.548-33C>T) c.-98-13794C>T (n.-98-13794C>T) n.5211-33C>T n.5252-33C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43063984G>C | CA2733647367 | BRCA1 | c.5072-33C>G (n.5072-33C>G) c.5075-33C>G (n.5075-33C>G) c.4949-33C>G (n.4949-33C>G) c.5069-33C>G (n.5069-33C>G) c.4997-33C>G (n.4997-33C>G) c.1763-33C>G (n.1763-33C>G) c.1625-33C>G (n.1625-33C>G) c.4187-33C>G (n.4187-33C>G) c.4952-33C>G (n.4952-33C>G) c.5141-33C>G (n.5141-33C>G) c.4934-33C>G (n.4934-33C>G) c.1637-33C>G (n.1637-33C>G) c.5138-33C>G (n.5138-33C>G) c.1462-33C>G c.1649-33C>G (n.1649-33C>G) c.*4858-33C>G (n.*4858-33C>G) c.1388-33C>G (n.1388-33C>G) c.5-33C>G (n.5-33C>G) c.548-33C>G (n.548-33C>G) c.-98-13794C>G (n.-98-13794C>G) n.5211-33C>G n.5252-33C>G | dbSNP |
17 | g.43063984G= | CA2260769607 | BRCA1 | c.5072-33C= (n.5072-33C=) c.5075-33C= (n.5075-33C=) c.4949-33C= (n.4949-33C=) c.5069-33C= (n.5069-33C=) c.4997-33C= (n.4997-33C=) c.1763-33C= (n.1763-33C=) c.1625-33C= (n.1625-33C=) c.4187-33C= (n.4187-33C=) c.4952-33C= (n.4952-33C=) c.5141-33C= (n.5141-33C=) c.4934-33C= (n.4934-33C=) c.1637-33C= (n.1637-33C=) c.5138-33C= (n.5138-33C=) c.1462-33C= c.1649-33C= (n.1649-33C=) c.*4858-33C= (n.*4858-33C=) c.1388-33C= (n.1388-33C=) c.5-33C= (n.5-33C=) c.548-33C= (n.548-33C=) c.-98-13794C= (n.-98-13794C=) n.5211-33C= n.5252-33C= | |
17 | g.43063985T>A | CA2576282189 | BRCA1 | c.5072-34A>T (n.5072-34A>T) c.5075-34A>T (n.5075-34A>T) c.4949-34A>T (n.4949-34A>T) c.5069-34A>T (n.5069-34A>T) c.4997-34A>T (n.4997-34A>T) c.1763-34A>T (n.1763-34A>T) c.1625-34A>T (n.1625-34A>T) c.4187-34A>T (n.4187-34A>T) c.4952-34A>T (n.4952-34A>T) c.5141-34A>T (n.5141-34A>T) c.4934-34A>T (n.4934-34A>T) c.1637-34A>T (n.1637-34A>T) c.5138-34A>T (n.5138-34A>T) c.1462-34A>T c.1649-34A>T (n.1649-34A>T) c.*4858-34A>T (n.*4858-34A>T) c.1388-34A>T (n.1388-34A>T) c.5-34A>T (n.5-34A>T) c.548-34A>T (n.548-34A>T) c.-98-13795A>T (n.-98-13795A>T) n.5211-34A>T n.5252-34A>T | dbSNP |
17 | g.43063985T>C | CA2638061599 | BRCA1 | c.5072-34A>G (n.5072-34A>G) c.5075-34A>G (n.5075-34A>G) c.4949-34A>G (n.4949-34A>G) c.5069-34A>G (n.5069-34A>G) c.4997-34A>G (n.4997-34A>G) c.1763-34A>G (n.1763-34A>G) c.1625-34A>G (n.1625-34A>G) c.4187-34A>G (n.4187-34A>G) c.4952-34A>G (n.4952-34A>G) c.5141-34A>G (n.5141-34A>G) c.4934-34A>G (n.4934-34A>G) c.1637-34A>G (n.1637-34A>G) c.5138-34A>G (n.5138-34A>G) c.1462-34A>G c.1649-34A>G (n.1649-34A>G) c.*4858-34A>G (n.*4858-34A>G) c.1388-34A>G (n.1388-34A>G) c.5-34A>G (n.5-34A>G) c.548-34A>G (n.548-34A>G) c.-98-13795A>G (n.-98-13795A>G) n.5211-34A>G n.5252-34A>G | gnomAD v4 |
17 | g.43063986del | CA2638061598 | BRCA1 | c.5072-34del (n.5072-34del) c.5075-34del (n.5075-34del) c.4949-34del (n.4949-34del) c.5069-34del (n.5069-34del) c.4997-34del (n.4997-34del) c.1763-34del (n.1763-34del) c.1625-34del (n.1625-34del) c.4187-34del (n.4187-34del) c.4952-34del (n.4952-34del) c.5141-34del (n.5141-34del) c.4934-34del (n.4934-34del) c.1637-34del (n.1637-34del) c.5138-34del (n.5138-34del) c.1462-34del c.1649-34del (n.1649-34del) c.*4858-34del (n.*4858-34del) c.1388-34del (n.1388-34del) c.5-34del (n.5-34del) c.548-34del (n.548-34del) c.-98-13795del (n.-98-13795del) n.5211-34del n.5252-34del | gnomAD v4 |
17 | g.43063986T>A | CA2733646694 | BRCA1 | c.5072-35A>T (n.5072-35A>T) c.5075-35A>T (n.5075-35A>T) c.4949-35A>T (n.4949-35A>T) c.5069-35A>T (n.5069-35A>T) c.4997-35A>T (n.4997-35A>T) c.1763-35A>T (n.1763-35A>T) c.1625-35A>T (n.1625-35A>T) c.4187-35A>T (n.4187-35A>T) c.4952-35A>T (n.4952-35A>T) c.5141-35A>T (n.5141-35A>T) c.4934-35A>T (n.4934-35A>T) c.1637-35A>T (n.1637-35A>T) c.5138-35A>T (n.5138-35A>T) c.1462-35A>T c.1649-35A>T (n.1649-35A>T) c.*4858-35A>T (n.*4858-35A>T) c.1388-35A>T (n.1388-35A>T) c.5-35A>T (n.5-35A>T) c.548-35A>T (n.548-35A>T) c.-98-13796A>T (n.-98-13796A>T) n.5211-35A>T n.5252-35A>T | dbSNP |
17 | g.43063986T>C | CA2576282191 | BRCA1 | c.5072-35A>G (n.5072-35A>G) c.5075-35A>G (n.5075-35A>G) c.4949-35A>G (n.4949-35A>G) c.5069-35A>G (n.5069-35A>G) c.4997-35A>G (n.4997-35A>G) c.1763-35A>G (n.1763-35A>G) c.1625-35A>G (n.1625-35A>G) c.4187-35A>G (n.4187-35A>G) c.4952-35A>G (n.4952-35A>G) c.5141-35A>G (n.5141-35A>G) c.4934-35A>G (n.4934-35A>G) c.1637-35A>G (n.1637-35A>G) c.5138-35A>G (n.5138-35A>G) c.1462-35A>G c.1649-35A>G (n.1649-35A>G) c.*4858-35A>G (n.*4858-35A>G) c.1388-35A>G (n.1388-35A>G) c.5-35A>G (n.5-35A>G) c.548-35A>G (n.548-35A>G) c.-98-13796A>G (n.-98-13796A>G) n.5211-35A>G n.5252-35A>G | |
17 | g.43063986T>G | CA053854 | BRCA1 | c.5072-35A>C (n.5072-35A>C) c.5075-35A>C (n.5075-35A>C) c.4949-35A>C (n.4949-35A>C) c.5069-35A>C (n.5069-35A>C) c.4997-35A>C (n.4997-35A>C) c.1763-35A>C (n.1763-35A>C) c.1625-35A>C (n.1625-35A>C) c.4187-35A>C (n.4187-35A>C) c.4952-35A>C (n.4952-35A>C) c.5141-35A>C (n.5141-35A>C) c.4934-35A>C (n.4934-35A>C) c.1637-35A>C (n.1637-35A>C) c.5138-35A>C (n.5138-35A>C) c.1462-35A>C c.1649-35A>C (n.1649-35A>C) c.*4858-35A>C (n.*4858-35A>C) c.1388-35A>C (n.1388-35A>C) c.5-35A>C (n.5-35A>C) c.548-35A>C (n.548-35A>C) c.-98-13796A>C (n.-98-13796A>C) n.5211-35A>C n.5252-35A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43063986T= | CA2260769608 | BRCA1 | c.5072-35A= (n.5072-35A=) c.5075-35A= (n.5075-35A=) c.4949-35A= (n.4949-35A=) c.5069-35A= (n.5069-35A=) c.4997-35A= (n.4997-35A=) c.1763-35A= (n.1763-35A=) c.1625-35A= (n.1625-35A=) c.4187-35A= (n.4187-35A=) c.4952-35A= (n.4952-35A=) c.5141-35A= (n.5141-35A=) c.4934-35A= (n.4934-35A=) c.1637-35A= (n.1637-35A=) c.5138-35A= (n.5138-35A=) c.1462-35A= c.1649-35A= (n.1649-35A=) c.*4858-35A= (n.*4858-35A=) c.1388-35A= (n.1388-35A=) c.5-35A= (n.5-35A=) c.548-35A= (n.548-35A=) c.-98-13796A= (n.-98-13796A=) n.5211-35A= n.5252-35A= | |
17 | g.43063987G>C | CA2733912139 | BRCA1 | c.5072-36C>G (n.5072-36C>G) c.5075-36C>G (n.5075-36C>G) c.4949-36C>G (n.4949-36C>G) c.5069-36C>G (n.5069-36C>G) c.4997-36C>G (n.4997-36C>G) c.1763-36C>G (n.1763-36C>G) c.1625-36C>G (n.1625-36C>G) c.4187-36C>G (n.4187-36C>G) c.4952-36C>G (n.4952-36C>G) c.5141-36C>G (n.5141-36C>G) c.4934-36C>G (n.4934-36C>G) c.1637-36C>G (n.1637-36C>G) c.5138-36C>G (n.5138-36C>G) c.1462-36C>G c.1649-36C>G (n.1649-36C>G) c.*4858-36C>G (n.*4858-36C>G) c.1388-36C>G (n.1388-36C>G) c.5-36C>G (n.5-36C>G) c.548-36C>G (n.548-36C>G) c.-98-13797C>G (n.-98-13797C>G) n.5211-36C>G n.5252-36C>G | dbSNP |
17 | g.43063987_43063988delinsGA | CA2260769609 | BRCA1 | c.5072-37_5072-36delinsTC (n.5072-37_5072-36delinsTC) c.5075-37_5075-36delinsTC (n.5075-37_5075-36delinsTC) c.4949-37_4949-36delinsTC (n.4949-37_4949-36delinsTC) c.5069-37_5069-36delinsTC (n.5069-37_5069-36delinsTC) c.4997-37_4997-36delinsTC (n.4997-37_4997-36delinsTC) c.1763-37_1763-36delinsTC (n.1763-37_1763-36delinsTC) c.1625-37_1625-36delinsTC (n.1625-37_1625-36delinsTC) c.4187-37_4187-36delinsTC (n.4187-37_4187-36delinsTC) c.4952-37_4952-36delinsTC (n.4952-37_4952-36delinsTC) c.5141-37_5141-36delinsTC (n.5141-37_5141-36delinsTC) c.4934-37_4934-36delinsTC (n.4934-37_4934-36delinsTC) c.1637-37_1637-36delinsTC (n.1637-37_1637-36delinsTC) c.5138-37_5138-36delinsTC (n.5138-37_5138-36delinsTC) c.1462-37_1462-36delinsTC c.1649-37_1649-36delinsTC (n.1649-37_1649-36delinsTC) c.*4858-37_*4858-36delinsTC (n.*4858-37_*4858-36delinsTC) c.1388-37_1388-36delinsTC (n.1388-37_1388-36delinsTC) c.5-37_5-36delinsTC (n.5-37_5-36delinsTC) c.548-37_548-36delinsTC (n.548-37_548-36delinsTC) c.-98-13798_-98-13797delinsTC (n.-98-13798_-98-13797delinsTC) n.5211-37_5211-36delinsTC n.5252-37_5252-36delinsTC | |
17 | g.43063988A= | CA2260769610 | BRCA1 | c.5072-37T= (n.5072-37T=) c.5075-37T= (n.5075-37T=) c.4949-37T= (n.4949-37T=) c.5069-37T= (n.5069-37T=) c.4997-37T= (n.4997-37T=) c.1763-37T= (n.1763-37T=) c.1625-37T= (n.1625-37T=) c.4187-37T= (n.4187-37T=) c.4952-37T= (n.4952-37T=) c.5141-37T= (n.5141-37T=) c.4934-37T= (n.4934-37T=) c.1637-37T= (n.1637-37T=) c.5138-37T= (n.5138-37T=) c.1462-37T= c.1649-37T= (n.1649-37T=) c.*4858-37T= (n.*4858-37T=) c.1388-37T= (n.1388-37T=) c.5-37T= (n.5-37T=) c.548-37T= (n.548-37T=) c.-98-13798T= (n.-98-13798T=) n.5211-37T= n.5252-37T= | |
17 | g.43063988A>G | CA2260769611 | BRCA1 | c.5072-37T>C (n.5072-37T>C) c.5075-37T>C (n.5075-37T>C) c.4949-37T>C (n.4949-37T>C) c.5069-37T>C (n.5069-37T>C) c.4997-37T>C (n.4997-37T>C) c.1763-37T>C (n.1763-37T>C) c.1625-37T>C (n.1625-37T>C) c.4187-37T>C (n.4187-37T>C) c.4952-37T>C (n.4952-37T>C) c.5141-37T>C (n.5141-37T>C) c.4934-37T>C (n.4934-37T>C) c.1637-37T>C (n.1637-37T>C) c.5138-37T>C (n.5138-37T>C) c.1462-37T>C c.1649-37T>C (n.1649-37T>C) c.*4858-37T>C (n.*4858-37T>C) c.1388-37T>C (n.1388-37T>C) c.5-37T>C (n.5-37T>C) c.548-37T>C (n.548-37T>C) c.-98-13798T>C (n.-98-13798T>C) n.5211-37T>C n.5252-37T>C | dbSNP |
17 | g.43063991del | CA053858 | BRCA1 | c.5072-37del (n.5072-37del) c.5075-37del (n.5075-37del) c.4949-37del (n.4949-37del) c.5069-37del (n.5069-37del) c.4997-37del (n.4997-37del) c.1763-37del (n.1763-37del) c.1625-37del (n.1625-37del) c.4187-37del (n.4187-37del) c.4952-37del (n.4952-37del) c.5141-37del (n.5141-37del) c.4934-37del (n.4934-37del) c.1637-37del (n.1637-37del) c.5138-37del (n.5138-37del) c.1462-37del c.1649-37del (n.1649-37del) c.*4858-37del (n.*4858-37del) c.1388-37del (n.1388-37del) c.5-37del (n.5-37del) c.548-37del (n.548-37del) c.-98-13798del (n.-98-13798del) n.5211-37del n.5252-37del | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43063991A= | CA2260769612 | BRCA1 | c.5072-40T= (n.5072-40T=) c.5075-40T= (n.5075-40T=) c.4949-40T= (n.4949-40T=) c.5069-40T= (n.5069-40T=) c.4997-40T= (n.4997-40T=) c.1763-40T= (n.1763-40T=) c.1625-40T= (n.1625-40T=) c.4187-40T= (n.4187-40T=) c.4952-40T= (n.4952-40T=) c.5141-40T= (n.5141-40T=) c.4934-40T= (n.4934-40T=) c.1637-40T= (n.1637-40T=) c.5138-40T= (n.5138-40T=) c.1462-40T= c.1649-40T= (n.1649-40T=) c.*4858-40T= (n.*4858-40T=) c.1388-40T= (n.1388-40T=) c.5-40T= (n.5-40T=) c.548-40T= (n.548-40T=) c.-98-13801T= (n.-98-13801T=) n.5211-40T= n.5252-40T= | |
17 | g.43063991_43063992insTGGGTAGTTAG | CA2260769613 | BRCA1 | c.5072-41_5072-40insCTAACTACCCA (n.5072-41_5072-40insCTAACTACCCA) c.5075-41_5075-40insCTAACTACCCA (n.5075-41_5075-40insCTAACTACCCA) c.4949-41_4949-40insCTAACTACCCA (n.4949-41_4949-40insCTAACTACCCA) c.5069-41_5069-40insCTAACTACCCA (n.5069-41_5069-40insCTAACTACCCA) c.4997-41_4997-40insCTAACTACCCA (n.4997-41_4997-40insCTAACTACCCA) c.1763-41_1763-40insCTAACTACCCA (n.1763-41_1763-40insCTAACTACCCA) c.1625-41_1625-40insCTAACTACCCA (n.1625-41_1625-40insCTAACTACCCA) c.4187-41_4187-40insCTAACTACCCA (n.4187-41_4187-40insCTAACTACCCA) c.4952-41_4952-40insCTAACTACCCA (n.4952-41_4952-40insCTAACTACCCA) c.5141-41_5141-40insCTAACTACCCA (n.5141-41_5141-40insCTAACTACCCA) c.4934-41_4934-40insCTAACTACCCA (n.4934-41_4934-40insCTAACTACCCA) c.1637-41_1637-40insCTAACTACCCA (n.1637-41_1637-40insCTAACTACCCA) c.5138-41_5138-40insCTAACTACCCA (n.5138-41_5138-40insCTAACTACCCA) c.1462-41_1462-40insCTAACTACCCA c.1649-41_1649-40insCTAACTACCCA (n.1649-41_1649-40insCTAACTACCCA) c.*4858-41_*4858-40insCTAACTACCCA (n.*4858-41_*4858-40insCTAACTACCCA) c.1388-41_1388-40insCTAACTACCCA (n.1388-41_1388-40insCTAACTACCCA) c.5-41_5-40insCTAACTACCCA (n.5-41_5-40insCTAACTACCCA) c.548-41_548-40insCTAACTACCCA (n.548-41_548-40insCTAACTACCCA) c.-98-13802_-98-13801insCTAACTACCCA (n.-98-13802_-98-13801insCTAACTACCCA) n.5211-41_5211-40insCTAACTACCCA n.5252-41_5252-40insCTAACTACCCA | dbSNP |
17 | g.43063992C>A | CA2733912141 | BRCA1 | c.5072-41G>T (n.5072-41G>T) c.5075-41G>T (n.5075-41G>T) c.4949-41G>T (n.4949-41G>T) c.5069-41G>T (n.5069-41G>T) c.4997-41G>T (n.4997-41G>T) c.1763-41G>T (n.1763-41G>T) c.1625-41G>T (n.1625-41G>T) c.4187-41G>T (n.4187-41G>T) c.4952-41G>T (n.4952-41G>T) c.5141-41G>T (n.5141-41G>T) c.4934-41G>T (n.4934-41G>T) c.1637-41G>T (n.1637-41G>T) c.5138-41G>T (n.5138-41G>T) c.1462-41G>T c.1649-41G>T (n.1649-41G>T) c.*4858-41G>T (n.*4858-41G>T) c.1388-41G>T (n.1388-41G>T) c.5-41G>T (n.5-41G>T) c.548-41G>T (n.548-41G>T) c.-98-13802G>T (n.-98-13802G>T) n.5211-41G>T n.5252-41G>T | dbSNP |
17 | g.43063992C= | CA2260769614 | BRCA1 | c.5072-41G= (n.5072-41G=) c.5075-41G= (n.5075-41G=) c.4949-41G= (n.4949-41G=) c.5069-41G= (n.5069-41G=) c.4997-41G= (n.4997-41G=) c.1763-41G= (n.1763-41G=) c.1625-41G= (n.1625-41G=) c.4187-41G= (n.4187-41G=) c.4952-41G= (n.4952-41G=) c.5141-41G= (n.5141-41G=) c.4934-41G= (n.4934-41G=) c.1637-41G= (n.1637-41G=) c.5138-41G= (n.5138-41G=) c.1462-41G= c.1649-41G= (n.1649-41G=) c.*4858-41G= (n.*4858-41G=) c.1388-41G= (n.1388-41G=) c.5-41G= (n.5-41G=) c.548-41G= (n.548-41G=) c.-98-13802G= (n.-98-13802G=) n.5211-41G= n.5252-41G= | |
17 | g.43063992_43063993insTATTTCTGT | CA2260769615 | BRCA1 | c.5072-42_5072-41insACAGAAATA (n.5072-42_5072-41insACAGAAATA) c.5075-42_5075-41insACAGAAATA (n.5075-42_5075-41insACAGAAATA) c.4949-42_4949-41insACAGAAATA (n.4949-42_4949-41insACAGAAATA) c.5069-42_5069-41insACAGAAATA (n.5069-42_5069-41insACAGAAATA) c.4997-42_4997-41insACAGAAATA (n.4997-42_4997-41insACAGAAATA) c.1763-42_1763-41insACAGAAATA (n.1763-42_1763-41insACAGAAATA) c.1625-42_1625-41insACAGAAATA (n.1625-42_1625-41insACAGAAATA) c.4187-42_4187-41insACAGAAATA (n.4187-42_4187-41insACAGAAATA) c.4952-42_4952-41insACAGAAATA (n.4952-42_4952-41insACAGAAATA) c.5141-42_5141-41insACAGAAATA (n.5141-42_5141-41insACAGAAATA) c.4934-42_4934-41insACAGAAATA (n.4934-42_4934-41insACAGAAATA) c.1637-42_1637-41insACAGAAATA (n.1637-42_1637-41insACAGAAATA) c.5138-42_5138-41insACAGAAATA (n.5138-42_5138-41insACAGAAATA) c.1462-42_1462-41insACAGAAATA c.1649-42_1649-41insACAGAAATA (n.1649-42_1649-41insACAGAAATA) c.*4858-42_*4858-41insACAGAAATA (n.*4858-42_*4858-41insACAGAAATA) c.1388-42_1388-41insACAGAAATA (n.1388-42_1388-41insACAGAAATA) c.5-42_5-41insACAGAAATA (n.5-42_5-41insACAGAAATA) c.548-42_548-41insACAGAAATA (n.548-42_548-41insACAGAAATA) c.-98-13803_-98-13802insACAGAAATA (n.-98-13803_-98-13802insACAGAAATA) n.5211-42_5211-41insACAGAAATA n.5252-42_5252-41insACAGAAATA | dbSNP |
17 | g.43063993A>G | CA2638061600 | BRCA1 | c.5072-42T>C (n.5072-42T>C) c.5075-42T>C (n.5075-42T>C) c.4949-42T>C (n.4949-42T>C) c.5069-42T>C (n.5069-42T>C) c.4997-42T>C (n.4997-42T>C) c.1763-42T>C (n.1763-42T>C) c.1625-42T>C (n.1625-42T>C) c.4187-42T>C (n.4187-42T>C) c.4952-42T>C (n.4952-42T>C) c.5141-42T>C (n.5141-42T>C) c.4934-42T>C (n.4934-42T>C) c.1637-42T>C (n.1637-42T>C) c.5138-42T>C (n.5138-42T>C) c.1462-42T>C c.1649-42T>C (n.1649-42T>C) c.*4858-42T>C (n.*4858-42T>C) c.1388-42T>C (n.1388-42T>C) c.5-42T>C (n.5-42T>C) c.548-42T>C (n.548-42T>C) c.-98-13803T>C (n.-98-13803T>C) n.5211-42T>C n.5252-42T>C | gnomAD v4 |
17 | g.43063993_43063994insC | CA2809538879 | BRCA1 | c.5072-43_5072-42insG (n.5072-43_5072-42insG) c.5075-43_5075-42insG (n.5075-43_5075-42insG) c.4949-43_4949-42insG (n.4949-43_4949-42insG) c.5069-43_5069-42insG (n.5069-43_5069-42insG) c.4997-43_4997-42insG (n.4997-43_4997-42insG) c.1763-43_1763-42insG (n.1763-43_1763-42insG) c.1625-43_1625-42insG (n.1625-43_1625-42insG) c.4187-43_4187-42insG (n.4187-43_4187-42insG) c.4952-43_4952-42insG (n.4952-43_4952-42insG) c.5141-43_5141-42insG (n.5141-43_5141-42insG) c.4934-43_4934-42insG (n.4934-43_4934-42insG) c.1637-43_1637-42insG (n.1637-43_1637-42insG) c.5138-43_5138-42insG (n.5138-43_5138-42insG) c.1462-43_1462-42insG c.1649-43_1649-42insG (n.1649-43_1649-42insG) c.*4858-43_*4858-42insG (n.*4858-43_*4858-42insG) c.1388-43_1388-42insG (n.1388-43_1388-42insG) c.5-43_5-42insG (n.5-43_5-42insG) c.548-43_548-42insG (n.548-43_548-42insG) c.-98-13804_-98-13803insG (n.-98-13804_-98-13803insG) n.5211-43_5211-42insG n.5252-43_5252-42insG | |
17 | g.43063994A= | CA2260769616 | BRCA1 | c.5072-43T= (n.5072-43T=) c.5075-43T= (n.5075-43T=) c.4949-43T= (n.4949-43T=) c.5069-43T= (n.5069-43T=) c.4997-43T= (n.4997-43T=) c.1763-43T= (n.1763-43T=) c.1625-43T= (n.1625-43T=) c.4187-43T= (n.4187-43T=) c.4952-43T= (n.4952-43T=) c.5141-43T= (n.5141-43T=) c.4934-43T= (n.4934-43T=) c.1637-43T= (n.1637-43T=) c.5138-43T= (n.5138-43T=) c.1462-43T= c.1649-43T= (n.1649-43T=) c.*4858-43T= (n.*4858-43T=) c.1388-43T= (n.1388-43T=) c.5-43T= (n.5-43T=) c.548-43T= (n.548-43T=) c.-98-13804T= (n.-98-13804T=) n.5211-43T= n.5252-43T= | |
17 | g.43063994A>T | CA053868 | BRCA1 | c.5072-43T>A (n.5072-43T>A) c.5075-43T>A (n.5075-43T>A) c.4949-43T>A (n.4949-43T>A) c.5069-43T>A (n.5069-43T>A) c.4997-43T>A (n.4997-43T>A) c.1763-43T>A (n.1763-43T>A) c.1625-43T>A (n.1625-43T>A) c.4187-43T>A (n.4187-43T>A) c.4952-43T>A (n.4952-43T>A) c.5141-43T>A (n.5141-43T>A) c.4934-43T>A (n.4934-43T>A) c.1637-43T>A (n.1637-43T>A) c.5138-43T>A (n.5138-43T>A) c.1462-43T>A c.1649-43T>A (n.1649-43T>A) c.*4858-43T>A (n.*4858-43T>A) c.1388-43T>A (n.1388-43T>A) c.5-43T>A (n.5-43T>A) c.548-43T>A (n.548-43T>A) c.-98-13804T>A (n.-98-13804T>A) n.5211-43T>A n.5252-43T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43063994_43063995insGTAT | CA2260769617 | BRCA1 | c.5072-44_5072-43insATAC (n.5072-44_5072-43insATAC) c.5075-44_5075-43insATAC (n.5075-44_5075-43insATAC) c.4949-44_4949-43insATAC (n.4949-44_4949-43insATAC) c.5069-44_5069-43insATAC (n.5069-44_5069-43insATAC) c.4997-44_4997-43insATAC (n.4997-44_4997-43insATAC) c.1763-44_1763-43insATAC (n.1763-44_1763-43insATAC) c.1625-44_1625-43insATAC (n.1625-44_1625-43insATAC) c.4187-44_4187-43insATAC (n.4187-44_4187-43insATAC) c.4952-44_4952-43insATAC (n.4952-44_4952-43insATAC) c.5141-44_5141-43insATAC (n.5141-44_5141-43insATAC) c.4934-44_4934-43insATAC (n.4934-44_4934-43insATAC) c.1637-44_1637-43insATAC (n.1637-44_1637-43insATAC) c.5138-44_5138-43insATAC (n.5138-44_5138-43insATAC) c.1462-44_1462-43insATAC c.1649-44_1649-43insATAC (n.1649-44_1649-43insATAC) c.*4858-44_*4858-43insATAC (n.*4858-44_*4858-43insATAC) c.1388-44_1388-43insATAC (n.1388-44_1388-43insATAC) c.5-44_5-43insATAC (n.5-44_5-43insATAC) c.548-44_548-43insATAC (n.548-44_548-43insATAC) c.-98-13805_-98-13804insATAC (n.-98-13805_-98-13804insATAC) n.5211-44_5211-43insATAC n.5252-44_5252-43insATAC | dbSNP |
17 | g.43063996_43063997insCCAAACACACCCAAC | CA2809538882 | BRCA1 | c.5072-46_5072-45insGTTGGGTGTGTTTGG (n.5072-46_5072-45insGTTGGGTGTGTTTGG) c.5075-46_5075-45insGTTGGGTGTGTTTGG (n.5075-46_5075-45insGTTGGGTGTGTTTGG) c.4949-46_4949-45insGTTGGGTGTGTTTGG (n.4949-46_4949-45insGTTGGGTGTGTTTGG) c.5069-46_5069-45insGTTGGGTGTGTTTGG (n.5069-46_5069-45insGTTGGGTGTGTTTGG) c.4997-46_4997-45insGTTGGGTGTGTTTGG (n.4997-46_4997-45insGTTGGGTGTGTTTGG) c.1763-46_1763-45insGTTGGGTGTGTTTGG (n.1763-46_1763-45insGTTGGGTGTGTTTGG) c.1625-46_1625-45insGTTGGGTGTGTTTGG (n.1625-46_1625-45insGTTGGGTGTGTTTGG) c.4187-46_4187-45insGTTGGGTGTGTTTGG (n.4187-46_4187-45insGTTGGGTGTGTTTGG) c.4952-46_4952-45insGTTGGGTGTGTTTGG (n.4952-46_4952-45insGTTGGGTGTGTTTGG) c.5141-46_5141-45insGTTGGGTGTGTTTGG (n.5141-46_5141-45insGTTGGGTGTGTTTGG) c.4934-46_4934-45insGTTGGGTGTGTTTGG (n.4934-46_4934-45insGTTGGGTGTGTTTGG) c.1637-46_1637-45insGTTGGGTGTGTTTGG (n.1637-46_1637-45insGTTGGGTGTGTTTGG) c.5138-46_5138-45insGTTGGGTGTGTTTGG (n.5138-46_5138-45insGTTGGGTGTGTTTGG) c.1462-46_1462-45insGTTGGGTGTGTTTGG c.1649-46_1649-45insGTTGGGTGTGTTTGG (n.1649-46_1649-45insGTTGGGTGTGTTTGG) c.*4858-46_*4858-45insGTTGGGTGTGTTTGG (n.*4858-46_*4858-45insGTTGGGTGTGTTTGG) c.1388-46_1388-45insGTTGGGTGTGTTTGG (n.1388-46_1388-45insGTTGGGTGTGTTTGG) c.5-46_5-45insGTTGGGTGTGTTTGG (n.5-46_5-45insGTTGGGTGTGTTTGG) c.548-46_548-45insGTTGGGTGTGTTTGG (n.548-46_548-45insGTTGGGTGTGTTTGG) c.-98-13807_-98-13806insGTTGGGTGTGTTTGG (n.-98-13807_-98-13806insGTTGGGTGTGTTTGG) n.5211-46_5211-45insGTTGGGTGTGTTTGG n.5252-46_5252-45insGTTGGGTGTGTTTGG | |
17 | g.43063996_43063997insACCAAACACACCCAAC | CA2809538881 | BRCA1 | c.5072-46_5072-45insGTTGGGTGTGTTTGGT (n.5072-46_5072-45insGTTGGGTGTGTTTGGT) c.5075-46_5075-45insGTTGGGTGTGTTTGGT (n.5075-46_5075-45insGTTGGGTGTGTTTGGT) c.4949-46_4949-45insGTTGGGTGTGTTTGGT (n.4949-46_4949-45insGTTGGGTGTGTTTGGT) c.5069-46_5069-45insGTTGGGTGTGTTTGGT (n.5069-46_5069-45insGTTGGGTGTGTTTGGT) c.4997-46_4997-45insGTTGGGTGTGTTTGGT (n.4997-46_4997-45insGTTGGGTGTGTTTGGT) c.1763-46_1763-45insGTTGGGTGTGTTTGGT (n.1763-46_1763-45insGTTGGGTGTGTTTGGT) c.1625-46_1625-45insGTTGGGTGTGTTTGGT (n.1625-46_1625-45insGTTGGGTGTGTTTGGT) c.4187-46_4187-45insGTTGGGTGTGTTTGGT (n.4187-46_4187-45insGTTGGGTGTGTTTGGT) c.4952-46_4952-45insGTTGGGTGTGTTTGGT (n.4952-46_4952-45insGTTGGGTGTGTTTGGT) c.5141-46_5141-45insGTTGGGTGTGTTTGGT (n.5141-46_5141-45insGTTGGGTGTGTTTGGT) c.4934-46_4934-45insGTTGGGTGTGTTTGGT (n.4934-46_4934-45insGTTGGGTGTGTTTGGT) c.1637-46_1637-45insGTTGGGTGTGTTTGGT (n.1637-46_1637-45insGTTGGGTGTGTTTGGT) c.5138-46_5138-45insGTTGGGTGTGTTTGGT (n.5138-46_5138-45insGTTGGGTGTGTTTGGT) c.1462-46_1462-45insGTTGGGTGTGTTTGGT c.1649-46_1649-45insGTTGGGTGTGTTTGGT (n.1649-46_1649-45insGTTGGGTGTGTTTGGT) c.*4858-46_*4858-45insGTTGGGTGTGTTTGGT (n.*4858-46_*4858-45insGTTGGGTGTGTTTGGT) c.1388-46_1388-45insGTTGGGTGTGTTTGGT (n.1388-46_1388-45insGTTGGGTGTGTTTGGT) c.5-46_5-45insGTTGGGTGTGTTTGGT (n.5-46_5-45insGTTGGGTGTGTTTGGT) c.548-46_548-45insGTTGGGTGTGTTTGGT (n.548-46_548-45insGTTGGGTGTGTTTGGT) c.-98-13807_-98-13806insGTTGGGTGTGTTTGGT (n.-98-13807_-98-13806insGTTGGGTGTGTTTGGT) n.5211-46_5211-45insGTTGGGTGTGTTTGGT n.5252-46_5252-45insGTTGGGTGTGTTTGGT | |
17 | g.43063997T>A | CA2733670494 | BRCA1 | c.5072-46A>T (n.5072-46A>T) c.5075-46A>T (n.5075-46A>T) c.4949-46A>T (n.4949-46A>T) c.5069-46A>T (n.5069-46A>T) c.4997-46A>T (n.4997-46A>T) c.1763-46A>T (n.1763-46A>T) c.1625-46A>T (n.1625-46A>T) c.4187-46A>T (n.4187-46A>T) c.4952-46A>T (n.4952-46A>T) c.5141-46A>T (n.5141-46A>T) c.4934-46A>T (n.4934-46A>T) c.1637-46A>T (n.1637-46A>T) c.5138-46A>T (n.5138-46A>T) c.1462-46A>T c.1649-46A>T (n.1649-46A>T) c.*4858-46A>T (n.*4858-46A>T) c.1388-46A>T (n.1388-46A>T) c.5-46A>T (n.5-46A>T) c.548-46A>T (n.548-46A>T) c.-98-13807A>T (n.-98-13807A>T) n.5211-46A>T n.5252-46A>T | dbSNP |
17 | g.43063997T>C | CA772174166 | BRCA1 | c.5072-46A>G (n.5072-46A>G) c.5075-46A>G (n.5075-46A>G) c.4949-46A>G (n.4949-46A>G) c.5069-46A>G (n.5069-46A>G) c.4997-46A>G (n.4997-46A>G) c.1763-46A>G (n.1763-46A>G) c.1625-46A>G (n.1625-46A>G) c.4187-46A>G (n.4187-46A>G) c.4952-46A>G (n.4952-46A>G) c.5141-46A>G (n.5141-46A>G) c.4934-46A>G (n.4934-46A>G) c.1637-46A>G (n.1637-46A>G) c.5138-46A>G (n.5138-46A>G) c.1462-46A>G c.1649-46A>G (n.1649-46A>G) c.*4858-46A>G (n.*4858-46A>G) c.1388-46A>G (n.1388-46A>G) c.5-46A>G (n.5-46A>G) c.548-46A>G (n.548-46A>G) c.-98-13807A>G (n.-98-13807A>G) n.5211-46A>G n.5252-46A>G | dbSNP |
17 | g.43063997T>G | CA2638061601 | BRCA1 | c.5072-46A>C (n.5072-46A>C) c.5075-46A>C (n.5075-46A>C) c.4949-46A>C (n.4949-46A>C) c.5069-46A>C (n.5069-46A>C) c.4997-46A>C (n.4997-46A>C) c.1763-46A>C (n.1763-46A>C) c.1625-46A>C (n.1625-46A>C) c.4187-46A>C (n.4187-46A>C) c.4952-46A>C (n.4952-46A>C) c.5141-46A>C (n.5141-46A>C) c.4934-46A>C (n.4934-46A>C) c.1637-46A>C (n.1637-46A>C) c.5138-46A>C (n.5138-46A>C) c.1462-46A>C c.1649-46A>C (n.1649-46A>C) c.*4858-46A>C (n.*4858-46A>C) c.1388-46A>C (n.1388-46A>C) c.5-46A>C (n.5-46A>C) c.548-46A>C (n.548-46A>C) c.-98-13807A>C (n.-98-13807A>C) n.5211-46A>C n.5252-46A>C | gnomAD v4 |
17 | g.43063997T= | CA2260769618 | BRCA1 | c.5072-46A= (n.5072-46A=) c.5075-46A= (n.5075-46A=) c.4949-46A= (n.4949-46A=) c.5069-46A= (n.5069-46A=) c.4997-46A= (n.4997-46A=) c.1763-46A= (n.1763-46A=) c.1625-46A= (n.1625-46A=) c.4187-46A= (n.4187-46A=) c.4952-46A= (n.4952-46A=) c.5141-46A= (n.5141-46A=) c.4934-46A= (n.4934-46A=) c.1637-46A= (n.1637-46A=) c.5138-46A= (n.5138-46A=) c.1462-46A= c.1649-46A= (n.1649-46A=) c.*4858-46A= (n.*4858-46A=) c.1388-46A= (n.1388-46A=) c.5-46A= (n.5-46A=) c.548-46A= (n.548-46A=) c.-98-13807A= (n.-98-13807A=) n.5211-46A= n.5252-46A= |