Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.43057133_43063930delCA916079884BRCA1c.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
17g.43057133_43063931delCA923726270BRCA1c.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
17g.43059235_43065439dupCA2697559969BRCA1c.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
17g.43060764_43066736dupCA2580612613BRCA1c.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
17g.43061818_43066643delCA16043347BRCA1c.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
17g.43063332_43064342delCA2499224373BRCA1c.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
17g.43063334_43063930delCA916084420BRCA1c.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
17g.43063333_43063930delCA916084421BRCA1c.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
17g.43063335_43063953delCA658655490BRCA1c.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
 ClinVar
17g.43063336_43063930delCA913203496BRCA1c.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
17g.43063357_43067682dupCA1139532339BRCA1c.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
17g.43063360_43063930delCA916084423BRCA1c.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
17g.43063366_43063931delCA913203495BRCA1c.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
17g.43063863_43063926dupCA2697559912BRCA1c.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
17g.43063863_43063882dupCA2638061590BRCA1c.5141_5149+11dup
c.5144_5152+11dup
c.5018_5026+11dup
c.5138_5146+11dup
c.5066_5074+11dup
c.1832_1840+11dup
c.1694_1702+11dup
c.4256_4264+11dup
c.5021_5029+11dup
c.5210_5218+11dup
c.5003_5011+11dup
c.1706_1714+11dup
c.5207_5215+11dup
c.1531_1539+11dup
c.1718_1726+11dup
c.*4927_*4935+11dup
c.1457_1465+11dup
c.74_82+11dup
c.617_625+11dup
c.-98-13692_-98-13673dup (n.-98-13692_-98-13673dup)
n.5280_5288+11dup
n.5321_5329+11dup
 gnomAD v4
17g.43063865_43063881delinsTATACTTACAGAAATAGCA2260769475BRCA1c.5142_5149+9delinsCTATTTCTGTAAGTATA
c.5145_5152+9delinsCTATTTCTGTAAGTATA
c.5019_5026+9delinsCTATTTCTGTAAGTATA
c.5139_5146+9delinsCTATTTCTGTAAGTATA
c.5067_5074+9delinsCTATTTCTGTAAGTATA
c.1833_1840+9delinsCTATTTCTGTAAGTATA
c.1695_1702+9delinsCTATTTCTGTAAGTATA
c.4257_4264+9delinsCTATTTCTGTAAGTATA
c.5022_5029+9delinsCTATTTCTGTAAGTATA
c.5211_5218+9delinsCTATTTCTGTAAGTATA
c.5004_5011+9delinsCTATTTCTGTAAGTATA
c.1707_1714+9delinsCTATTTCTGTAAGTATA
c.5208_5215+9delinsCTATTTCTGTAAGTATA
c.1532_1539+9delinsCTATTTCTGTAAGTATA
c.1719_1726+9delinsCTATTTCTGTAAGTATA
c.*4928_*4935+9delinsCTATTTCTGTAAGTATA
c.1458_1465+9delinsCTATTTCTGTAAGTATA
c.75_82+9delinsCTATTTCTGTAAGTATA
c.618_625+9delinsCTATTTCTGTAAGTATA
c.-98-13691_-98-13675delinsCTATTTCTGTAAGTATA (n.-98-13691_-98-13675delinsCTATTTCTGTAAGTATA)
n.5281_5288+9delinsCTATTTCTGTAAGTATA
n.5322_5329+9delinsCTATTTCTGTAAGTATA
17g.43063866_43063881delinsCTATTTCA915950074BRCA1c.5142_5149+8delinsAAATAG
c.5145_5152+8delinsAAATAG
c.5019_5026+8delinsAAATAG
c.5139_5146+8delinsAAATAG
c.5067_5074+8delinsAAATAG
c.1833_1840+8delinsAAATAG
c.1695_1702+8delinsAAATAG
c.4257_4264+8delinsAAATAG
c.5022_5029+8delinsAAATAG
c.5211_5218+8delinsAAATAG
c.5004_5011+8delinsAAATAG
c.1707_1714+8delinsAAATAG
c.5208_5215+8delinsAAATAG
c.1532_1539+8delinsAAATAG
c.1719_1726+8delinsAAATAG
c.*4928_*4935+8delinsAAATAG
c.1458_1465+8delinsAAATAG
c.75_82+8delinsAAATAG
c.618_625+8delinsAAATAG
c.-98-13691_-98-13676delinsAAATAG (n.-98-13691_-98-13676delinsAAATAG)
n.5281_5288+8delinsAAATAG
n.5322_5329+8delinsAAATAG
 ClinVar dbSNP
17g.43063872_43069026delCA2499224378BRCA1c.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
17g.43063873_43063951delinsCAGAAATAGCTAACTACCCATTTTCCTCCCGCAATTCCTAGAAAATATTTCAGTGTCCGTTCACACACAAACTCAGCATCA2260769484BRCA1c.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
17g.43063874_43063951delCA645373156BRCA1c.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
17g.43063878_43063881delCA1139770825BRCA1c.5142_5145del (p.Tyr1715SerfsTer3)
c.5145_5148del (p.Tyr1716SerfsTer3)
c.5019_5022del (p.Tyr1674SerfsTer3)
c.5139_5142del (p.Tyr1714SerfsTer3)
c.5067_5070del (p.Tyr1690SerfsTer3)
c.1833_1836del (p.Tyr612SerfsTer3)
c.1695_1698del (p.Tyr566SerfsTer3)
c.4257_4260del (p.Tyr1420SerfsTer3)
c.5022_5025del (p.Tyr1675SerfsTer3)
c.5211_5214del (p.Tyr1738SerfsTer3)
c.5004_5007del (p.Tyr1669SerfsTer3)
c.1707_1710del (p.Tyr570SerfsTer3)
c.5208_5211del (p.Tyr1737SerfsTer3)
c.1532_1535del
c.1719_1722del (p.Tyr574SerfsTer3)
c.*4928_*4931del (n.*4928_*4931del)
c.1458_1461del (p.Tyr487SerfsTer3)
c.75_78del (p.Tyr26SerfsTer3)
c.618_621del (p.Tyr207SerfsTer3)
c.-98-13691_-98-13688del (n.-98-13691_-98-13688del)
n.5281_5284del
n.5322_5325del
17g.43063880_43063881delinsAGCA2260769495BRCA1c.5142_5143delinsCT (p.Ser1714=)
c.5145_5146delinsCT (p.Ser1715=)
c.5019_5020delinsCT (p.Ser1673=)
c.5139_5140delinsCT (p.Ser1713=)
c.5067_5068delinsCT (p.Ser1689=)
c.1833_1834delinsCT (p.Ser611=)
c.1695_1696delinsCT (p.Ser565=)
c.4257_4258delinsCT (p.Ser1419=)
c.5022_5023delinsCT (p.Ser1674=)
c.5211_5212delinsCT (p.Ser1737=)
c.5004_5005delinsCT (p.Ser1668=)
c.1707_1708delinsCT (p.Ser569=)
c.5208_5209delinsCT (p.Ser1736=)
c.1532_1533delinsCT
c.1719_1720delinsCT (p.Ser573=)
c.*4928_*4929delinsCT (n.*4928_*4929delinsCT)
c.1458_1459delinsCT (p.Ser486=)
c.75_76delinsCT (p.Ser25=)
c.618_619delinsCT (p.Ser206=)
c.-98-13691_-98-13690delinsCT (n.-98-13691_-98-13690delinsCT)
n.5281_5282delinsCT
n.5322_5323delinsCT
17g.43063881delCA003269BRCA1c.5142del (p.Tyr1715IlefsTer4)
c.5145del (p.Tyr1716IlefsTer4)
c.5019del (p.Tyr1674IlefsTer4)
c.5139del (p.Tyr1714IlefsTer4)
c.5067del (p.Tyr1690IlefsTer4)
c.1833del (p.Tyr612IlefsTer4)
c.1695del (p.Tyr566IlefsTer4)
c.4257del (p.Tyr1420IlefsTer4)
c.5022del (p.Tyr1675IlefsTer4)
c.5211del (p.Tyr1738IlefsTer4)
c.5004del (p.Tyr1669IlefsTer4)
c.1707del (p.Tyr570IlefsTer4)
c.5208del (p.Tyr1737IlefsTer4)
c.1532del
c.1719del (p.Tyr574IlefsTer4)
c.*4928del (n.*4928del)
c.1458del (p.Tyr487IlefsTer4)
c.75del (p.Tyr26IlefsTer4)
c.618del (p.Tyr207IlefsTer4)
c.-98-13691del (n.-98-13691del)
n.5281del
n.5322del
 ClinVar dbSNP
17g.43063881G>ACA500146139BRCA1c.5142C>T (p.Ser1714=)
c.5145C>T (p.Ser1715=)
c.5019C>T (p.Ser1673=)
c.5139C>T (p.Ser1713=)
c.5067C>T (p.Ser1689=)
c.1833C>T (p.Ser611=)
c.1695C>T (p.Ser565=)
c.4257C>T (p.Ser1419=)
c.5022C>T (p.Ser1674=)
c.5211C>T (p.Ser1737=)
c.5004C>T (p.Ser1668=)
c.1707C>T (p.Ser569=)
c.5208C>T (p.Ser1736=)
c.1532C>T
c.1719C>T (p.Ser573=)
c.*4928C>T (n.*4928C>T)
c.1458C>T (p.Ser486=)
c.75C>T (p.Ser25=)
c.618C>T (p.Ser206=)
c.-98-13691C>T (n.-98-13691C>T)
n.5281C>T
n.5322C>T
 ClinVar dbSNP
17g.43063881G>CCA003268BRCA1c.5142C>G (p.Ser1714Arg)
c.5145C>G (p.Ser1715Arg)
c.5019C>G (p.Ser1673Arg)
c.5139C>G (p.Ser1713Arg)
c.5067C>G (p.Ser1689Arg)
c.1833C>G (p.Ser611Arg)
c.1695C>G (p.Ser565Arg)
c.4257C>G (p.Ser1419Arg)
c.5022C>G (p.Ser1674Arg)
c.5211C>G (p.Ser1737Arg)
c.5004C>G (p.Ser1668Arg)
c.1707C>G (p.Ser569Arg)
c.5208C>G (p.Ser1736Arg)
c.1532C>G
c.1719C>G (p.Ser573Arg)
c.*4928C>G (n.*4928C>G)
c.1458C>G (p.Ser486Arg)
c.75C>G (p.Ser25Arg)
c.618C>G (p.Ser206Arg)
c.-98-13691C>G (n.-98-13691C>G)
n.5281C>G
n.5322C>G
 ClinVar dbSNP
17g.43063881G=CA2260769496BRCA1c.5142C= (p.Ser1714=)
c.5145C= (p.Ser1715=)
c.5019C= (p.Ser1673=)
c.5139C= (p.Ser1713=)
c.5067C= (p.Ser1689=)
c.1833C= (p.Ser611=)
c.1695C= (p.Ser565=)
c.4257C= (p.Ser1419=)
c.5022C= (p.Ser1674=)
c.5211C= (p.Ser1737=)
c.5004C= (p.Ser1668=)
c.1707C= (p.Ser569=)
c.5208C= (p.Ser1736=)
c.1532C=
c.1719C= (p.Ser573=)
c.*4928C= (n.*4928C=)
c.1458C= (p.Ser486=)
c.75C= (p.Ser25=)
c.618C= (p.Ser206=)
c.-98-13691C= (n.-98-13691C=)
n.5281C=
n.5322C=
17g.43063881G>TCA003267BRCA1c.5142C>A (p.Ser1714Arg)
c.5145C>A (p.Ser1715Arg)
c.5019C>A (p.Ser1673Arg)
c.5139C>A (p.Ser1713Arg)
c.5067C>A (p.Ser1689Arg)
c.1833C>A (p.Ser611Arg)
c.1695C>A (p.Ser565Arg)
c.4257C>A (p.Ser1419Arg)
c.5022C>A (p.Ser1674Arg)
c.5211C>A (p.Ser1737Arg)
c.5004C>A (p.Ser1668Arg)
c.1707C>A (p.Ser569Arg)
c.5208C>A (p.Ser1736Arg)
c.1532C>A
c.1719C>A (p.Ser573Arg)
c.*4928C>A (n.*4928C>A)
c.1458C>A (p.Ser486Arg)
c.75C>A (p.Ser25Arg)
c.618C>A (p.Ser206Arg)
c.-98-13691C>A (n.-98-13691C>A)
n.5281C>A
n.5322C>A
 ClinVar dbSNP
17g.43063882C>ACA10591256BRCA1c.5141G>T (p.Ser1714Ile)
c.5144G>T (p.Ser1715Ile)
c.5018G>T (p.Ser1673Ile)
c.5138G>T (p.Ser1713Ile)
c.5066G>T (p.Ser1689Ile)
c.1832G>T (p.Ser611Ile)
c.1694G>T (p.Ser565Ile)
c.4256G>T (p.Ser1419Ile)
c.5021G>T (p.Ser1674Ile)
c.5210G>T (p.Ser1737Ile)
c.5003G>T (p.Ser1668Ile)
c.1706G>T (p.Ser569Ile)
c.5207G>T (p.Ser1736Ile)
c.1531G>T
c.1718G>T (p.Ser573Ile)
c.*4927G>T (n.*4927G>T)
c.1457G>T (p.Ser486Ile)
c.74G>T (p.Ser25Ile)
c.617G>T (p.Ser206Ile)
c.-98-13692G>T (n.-98-13692G>T)
n.5280G>T
n.5321G>T
 ClinVar dbSNP
17g.43063882C=CA2260769497BRCA1c.5141G= (p.Ser1714=)
c.5144G= (p.Ser1715=)
c.5018G= (p.Ser1673=)
c.5138G= (p.Ser1713=)
c.5066G= (p.Ser1689=)
c.1832G= (p.Ser611=)
c.1694G= (p.Ser565=)
c.4256G= (p.Ser1419=)
c.5021G= (p.Ser1674=)
c.5210G= (p.Ser1737=)
c.5003G= (p.Ser1668=)
c.1706G= (p.Ser569=)
c.5207G= (p.Ser1736=)
c.1531G=
c.1718G= (p.Ser573=)
c.*4927G= (n.*4927G=)
c.1457G= (p.Ser486=)
c.74G= (p.Ser25=)
c.617G= (p.Ser206=)
c.-98-13692G= (n.-98-13692G=)
n.5280G=
n.5321G=
17g.43063882C>GCA10591257BRCA1c.5141G>C (p.Ser1714Thr)
c.5144G>C (p.Ser1715Thr)
c.5018G>C (p.Ser1673Thr)
c.5138G>C (p.Ser1713Thr)
c.5066G>C (p.Ser1689Thr)
c.1832G>C (p.Ser611Thr)
c.1694G>C (p.Ser565Thr)
c.4256G>C (p.Ser1419Thr)
c.5021G>C (p.Ser1674Thr)
c.5210G>C (p.Ser1737Thr)
c.5003G>C (p.Ser1668Thr)
c.1706G>C (p.Ser569Thr)
c.5207G>C (p.Ser1736Thr)
c.1531G>C
c.1718G>C (p.Ser573Thr)
c.*4927G>C (n.*4927G>C)
c.1457G>C (p.Ser486Thr)
c.74G>C (p.Ser25Thr)
c.617G>C (p.Ser206Thr)
c.-98-13692G>C (n.-98-13692G>C)
n.5280G>C
n.5321G>C
 ClinVar dbSNP
17g.43063882C>TCA003266BRCA1c.5141G>A (p.Ser1714Asn)
c.5144G>A (p.Ser1715Asn)
c.5018G>A (p.Ser1673Asn)
c.5138G>A (p.Ser1713Asn)
c.5066G>A (p.Ser1689Asn)
c.1832G>A (p.Ser611Asn)
c.1694G>A (p.Ser565Asn)
c.4256G>A (p.Ser1419Asn)
c.5021G>A (p.Ser1674Asn)
c.5210G>A (p.Ser1737Asn)
c.5003G>A (p.Ser1668Asn)
c.1706G>A (p.Ser569Asn)
c.5207G>A (p.Ser1736Asn)
c.1531G>A
c.1718G>A (p.Ser573Asn)
c.*4927G>A (n.*4927G>A)
c.1457G>A (p.Ser486Asn)
c.74G>A (p.Ser25Asn)
c.617G>A (p.Ser206Asn)
c.-98-13692G>A (n.-98-13692G>A)
n.5280G>A
n.5321G>A
 ClinVar dbSNP gnomAD v4
17g.43063885_43063888delCA2499224379BRCA1c.5138_5141del (p.Val1713AlafsTer5)
c.5141_5144del (p.Val1714AlafsTer5)
c.5015_5018del (p.Val1672AlafsTer5)
c.5135_5138del (p.Val1712AlafsTer5)
c.5063_5066del (p.Val1688AlafsTer5)
c.1829_1832del (p.Val610AlafsTer5)
c.1691_1694del (p.Val564AlafsTer5)
c.4253_4256del (p.Val1418AlafsTer5)
c.5018_5021del (p.Val1673AlafsTer5)
c.5207_5210del (p.Val1736AlafsTer5)
c.5000_5003del (p.Val1667AlafsTer5)
c.1703_1706del (p.Val568AlafsTer5)
c.5204_5207del (p.Val1735AlafsTer5)
c.1528_1531del
c.1715_1718del (p.Val572AlafsTer5)
c.*4924_*4927del (n.*4924_*4927del)
c.1454_1457del (p.Val485AlafsTer5)
c.71_74del (p.Val24AlafsTer5)
c.614_617del (p.Val205AlafsTer5)
c.-98-13695_-98-13692del (n.-98-13695_-98-13692del)
n.5277_5280del
n.5318_5321del
 ClinVar dbSNP
17g.43063883T>ACA003265BRCA1c.5140A>T (p.Ser1714Cys)
c.5143A>T (p.Ser1715Cys)
c.5017A>T (p.Ser1673Cys)
c.5137A>T (p.Ser1713Cys)
c.5065A>T (p.Ser1689Cys)
c.1831A>T (p.Ser611Cys)
c.1693A>T (p.Ser565Cys)
c.4255A>T (p.Ser1419Cys)
c.5020A>T (p.Ser1674Cys)
c.5209A>T (p.Ser1737Cys)
c.5002A>T (p.Ser1668Cys)
c.1705A>T (p.Ser569Cys)
c.5206A>T (p.Ser1736Cys)
c.1530A>T
c.1717A>T (p.Ser573Cys)
c.*4926A>T (n.*4926A>T)
c.1456A>T (p.Ser486Cys)
c.73A>T (p.Ser25Cys)
c.616A>T (p.Ser206Cys)
c.-98-13693A>T (n.-98-13693A>T)
n.5279A>T
n.5320A>T
 ClinVar dbSNP
17g.43063883T>CCA10591258BRCA1c.5140A>G (p.Ser1714Gly)
c.5143A>G (p.Ser1715Gly)
c.5017A>G (p.Ser1673Gly)
c.5137A>G (p.Ser1713Gly)
c.5065A>G (p.Ser1689Gly)
c.1831A>G (p.Ser611Gly)
c.1693A>G (p.Ser565Gly)
c.4255A>G (p.Ser1419Gly)
c.5020A>G (p.Ser1674Gly)
c.5209A>G (p.Ser1737Gly)
c.5002A>G (p.Ser1668Gly)
c.1705A>G (p.Ser569Gly)
c.5206A>G (p.Ser1736Gly)
c.1530A>G
c.1717A>G (p.Ser573Gly)
c.*4926A>G (n.*4926A>G)
c.1456A>G (p.Ser486Gly)
c.73A>G (p.Ser25Gly)
c.616A>G (p.Ser206Gly)
c.-98-13693A>G (n.-98-13693A>G)
n.5279A>G
n.5320A>G
 ClinVar dbSNP
17g.43063883T>GCA003264BRCA1c.5140A>C (p.Ser1714Arg)
c.5143A>C (p.Ser1715Arg)
c.5017A>C (p.Ser1673Arg)
c.5137A>C (p.Ser1713Arg)
c.5065A>C (p.Ser1689Arg)
c.1831A>C (p.Ser611Arg)
c.1693A>C (p.Ser565Arg)
c.4255A>C (p.Ser1419Arg)
c.5020A>C (p.Ser1674Arg)
c.5209A>C (p.Ser1737Arg)
c.5002A>C (p.Ser1668Arg)
c.1705A>C (p.Ser569Arg)
c.5206A>C (p.Ser1736Arg)
c.1530A>C
c.1717A>C (p.Ser573Arg)
c.*4926A>C (n.*4926A>C)
c.1456A>C (p.Ser486Arg)
c.73A>C (p.Ser25Arg)
c.616A>C (p.Ser206Arg)
c.-98-13693A>C (n.-98-13693A>C)
n.5279A>C
n.5320A>C
 ClinVar dbSNP
17g.43063883T=CA2260769498BRCA1c.5140A= (p.Ser1714=)
c.5143A= (p.Ser1715=)
c.5017A= (p.Ser1673=)
c.5137A= (p.Ser1713=)
c.5065A= (p.Ser1689=)
c.1831A= (p.Ser611=)
c.1693A= (p.Ser565=)
c.4255A= (p.Ser1419=)
c.5020A= (p.Ser1674=)
c.5209A= (p.Ser1737=)
c.5002A= (p.Ser1668=)
c.1705A= (p.Ser569=)
c.5206A= (p.Ser1736=)
c.1530A=
c.1717A= (p.Ser573=)
c.*4926A= (n.*4926A=)
c.1456A= (p.Ser486=)
c.73A= (p.Ser25=)
c.616A= (p.Ser206=)
c.-98-13693A= (n.-98-13693A=)
n.5279A=
n.5320A=
17g.43063884A=CA2260769499BRCA1c.5139T= (p.Val1713=)
c.5142T= (p.Val1714=)
c.5016T= (p.Val1672=)
c.5136T= (p.Val1712=)
c.5064T= (p.Val1688=)
c.1830T= (p.Val610=)
c.1692T= (p.Val564=)
c.4254T= (p.Val1418=)
c.5019T= (p.Val1673=)
c.5208T= (p.Val1736=)
c.5001T= (p.Val1667=)
c.1704T= (p.Val568=)
c.5205T= (p.Val1735=)
c.1529T=
c.1716T= (p.Val572=)
c.*4925T= (n.*4925T=)
c.1455T= (p.Val485=)
c.72T= (p.Val24=)
c.615T= (p.Val205=)
c.-98-13694T= (n.-98-13694T=)
n.5278T=
n.5319T=
17g.43063884A>CCA053968BRCA1c.5139T>G (p.Val1713=)
c.5142T>G (p.Val1714=)
c.5016T>G (p.Val1672=)
c.5136T>G (p.Val1712=)
c.5064T>G (p.Val1688=)
c.1830T>G (p.Val610=)
c.1692T>G (p.Val564=)
c.4254T>G (p.Val1418=)
c.5019T>G (p.Val1673=)
c.5208T>G (p.Val1736=)
c.5001T>G (p.Val1667=)
c.1704T>G (p.Val568=)
c.5205T>G (p.Val1735=)
c.1529T>G
c.1716T>G (p.Val572=)
c.*4925T>G (n.*4925T>G)
c.1455T>G (p.Val485=)
c.72T>G (p.Val24=)
c.615T>G (p.Val205=)
c.-98-13694T>G (n.-98-13694T>G)
n.5278T>G
n.5319T>G
 ClinVar dbSNP ExAC gnomAD v2
17g.43063884A>GCA500146141BRCA1c.5139T>C (p.Val1713=)
c.5142T>C (p.Val1714=)
c.5016T>C (p.Val1672=)
c.5136T>C (p.Val1712=)
c.5064T>C (p.Val1688=)
c.1830T>C (p.Val610=)
c.1692T>C (p.Val564=)
c.4254T>C (p.Val1418=)
c.5019T>C (p.Val1673=)
c.5208T>C (p.Val1736=)
c.5001T>C (p.Val1667=)
c.1704T>C (p.Val568=)
c.5205T>C (p.Val1735=)
c.1529T>C
c.1716T>C (p.Val572=)
c.*4925T>C (n.*4925T>C)
c.1455T>C (p.Val485=)
c.72T>C (p.Val24=)
c.615T>C (p.Val205=)
c.-98-13694T>C (n.-98-13694T>C)
n.5278T>C
n.5319T>C
 ClinVar dbSNP
17g.43063884A>TCA500146142BRCA1c.5139T>A (p.Val1713=)
c.5142T>A (p.Val1714=)
c.5016T>A (p.Val1672=)
c.5136T>A (p.Val1712=)
c.5064T>A (p.Val1688=)
c.1830T>A (p.Val610=)
c.1692T>A (p.Val564=)
c.4254T>A (p.Val1418=)
c.5019T>A (p.Val1673=)
c.5208T>A (p.Val1736=)
c.5001T>A (p.Val1667=)
c.1704T>A (p.Val568=)
c.5205T>A (p.Val1735=)
c.1529T>A
c.1716T>A (p.Val572=)
c.*4925T>A (n.*4925T>A)
c.1455T>A (p.Val485=)
c.72T>A (p.Val24=)
c.615T>A (p.Val205=)
c.-98-13694T>A (n.-98-13694T>A)
n.5278T>A
n.5319T>A
 ClinVar dbSNP
17g.43063885A=CA2260769500BRCA1c.5138T= (p.Val1713=)
c.5141T= (p.Val1714=)
c.5015T= (p.Val1672=)
c.5135T= (p.Val1712=)
c.5063T= (p.Val1688=)
c.1829T= (p.Val610=)
c.1691T= (p.Val564=)
c.4253T= (p.Val1418=)
c.5018T= (p.Val1673=)
c.5207T= (p.Val1736=)
c.5000T= (p.Val1667=)
c.1703T= (p.Val568=)
c.5204T= (p.Val1735=)
c.1528T=
c.1715T= (p.Val572=)
c.*4924T= (n.*4924T=)
c.1454T= (p.Val485=)
c.71T= (p.Val24=)
c.614T= (p.Val205=)
c.-98-13695T= (n.-98-13695T=)
n.5277T=
n.5318T=
17g.43063885A>CCA003263BRCA1c.5138T>G (p.Val1713Gly)
c.5141T>G (p.Val1714Gly)
c.5015T>G (p.Val1672Gly)
c.5135T>G (p.Val1712Gly)
c.5063T>G (p.Val1688Gly)
c.1829T>G (p.Val610Gly)
c.1691T>G (p.Val564Gly)
c.4253T>G (p.Val1418Gly)
c.5018T>G (p.Val1673Gly)
c.5207T>G (p.Val1736Gly)
c.5000T>G (p.Val1667Gly)
c.1703T>G (p.Val568Gly)
c.5204T>G (p.Val1735Gly)
c.1528T>G
c.1715T>G (p.Val572Gly)
c.*4924T>G (n.*4924T>G)
c.1454T>G (p.Val485Gly)
c.71T>G (p.Val24Gly)
c.614T>G (p.Val205Gly)
c.-98-13695T>G (n.-98-13695T>G)
n.5277T>G
n.5318T>G
 ClinVar dbSNP gnomAD v4
17g.43063885A>GCA10591259BRCA1c.5138T>C (p.Val1713Ala)
c.5141T>C (p.Val1714Ala)
c.5015T>C (p.Val1672Ala)
c.5135T>C (p.Val1712Ala)
c.5063T>C (p.Val1688Ala)
c.1829T>C (p.Val610Ala)
c.1691T>C (p.Val564Ala)
c.4253T>C (p.Val1418Ala)
c.5018T>C (p.Val1673Ala)
c.5207T>C (p.Val1736Ala)
c.5000T>C (p.Val1667Ala)
c.1703T>C (p.Val568Ala)
c.5204T>C (p.Val1735Ala)
c.1528T>C
c.1715T>C (p.Val572Ala)
c.*4924T>C (n.*4924T>C)
c.1454T>C (p.Val485Ala)
c.71T>C (p.Val24Ala)
c.614T>C (p.Val205Ala)
c.-98-13695T>C (n.-98-13695T>C)
n.5277T>C
n.5318T>C
 ClinVar dbSNP
17g.43063885A>TCA10591260BRCA1c.5138T>A (p.Val1713Asp)
c.5141T>A (p.Val1714Asp)
c.5015T>A (p.Val1672Asp)
c.5135T>A (p.Val1712Asp)
c.5063T>A (p.Val1688Asp)
c.1829T>A (p.Val610Asp)
c.1691T>A (p.Val564Asp)
c.4253T>A (p.Val1418Asp)
c.5018T>A (p.Val1673Asp)
c.5207T>A (p.Val1736Asp)
c.5000T>A (p.Val1667Asp)
c.1703T>A (p.Val568Asp)
c.5204T>A (p.Val1735Asp)
c.1528T>A
c.1715T>A (p.Val572Asp)
c.*4924T>A (n.*4924T>A)
c.1454T>A (p.Val485Asp)
c.71T>A (p.Val24Asp)
c.614T>A (p.Val205Asp)
c.-98-13695T>A (n.-98-13695T>A)
n.5277T>A
n.5318T>A
 ClinVar dbSNP
17g.43063885_43063886delCA1139770768BRCA1c.5137_5138del (p.Val1713Ter)
c.5140_5141del (p.Val1714Ter)
c.5014_5015del (p.Val1672Ter)
c.5134_5135del (p.Val1712Ter)
c.5062_5063del (p.Val1688Ter)
c.1828_1829del (p.Val610Ter)
c.1690_1691del (p.Val564Ter)
c.4252_4253del (p.Val1418Ter)
c.5017_5018del (p.Val1673Ter)
c.5206_5207del (p.Val1736Ter)
c.4999_5000del (p.Val1667Ter)
c.1702_1703del (p.Val568Ter)
c.5203_5204del (p.Val1735Ter)
c.1527_1528del
c.1714_1715del (p.Val572Ter)
c.*4923_*4924del (n.*4923_*4924del)
c.1453_1454del (p.Val485Ter)
c.70_71del (p.Val24Ter)
c.613_614del (p.Val205Ter)
c.-98-13696_-98-13695del (n.-98-13696_-98-13695del)
n.5276_5277del
n.5317_5318del
17g.43063886C>ACA10591261BRCA1c.5137G>T (p.Val1713Phe)
c.5140G>T (p.Val1714Phe)
c.5014G>T (p.Val1672Phe)
c.5134G>T (p.Val1712Phe)
c.5062G>T (p.Val1688Phe)
c.1828G>T (p.Val610Phe)
c.1690G>T (p.Val564Phe)
c.4252G>T (p.Val1418Phe)
c.5017G>T (p.Val1673Phe)
c.5206G>T (p.Val1736Phe)
c.4999G>T (p.Val1667Phe)
c.1702G>T (p.Val568Phe)
c.5203G>T (p.Val1735Phe)
c.1527G>T
c.1714G>T (p.Val572Phe)
c.*4923G>T (n.*4923G>T)
c.1453G>T (p.Val485Phe)
c.70G>T (p.Val24Phe)
c.613G>T (p.Val205Phe)
c.-98-13696G>T (n.-98-13696G>T)
n.5276G>T
n.5317G>T
 ClinVar dbSNP
17g.43063886C=CA2260769501BRCA1c.5137G= (p.Val1713=)
c.5140G= (p.Val1714=)
c.5014G= (p.Val1672=)
c.5134G= (p.Val1712=)
c.5062G= (p.Val1688=)
c.1828G= (p.Val610=)
c.1690G= (p.Val564=)
c.4252G= (p.Val1418=)
c.5017G= (p.Val1673=)
c.5206G= (p.Val1736=)
c.4999G= (p.Val1667=)
c.1702G= (p.Val568=)
c.5203G= (p.Val1735=)
c.1527G=
c.1714G= (p.Val572=)
c.*4923G= (n.*4923G=)
c.1453G= (p.Val485=)
c.70G= (p.Val24=)
c.613G= (p.Val205=)
c.-98-13696G= (n.-98-13696G=)
n.5276G=
n.5317G=
17g.43063886C>GCA10591262BRCA1c.5137G>C (p.Val1713Leu)
c.5140G>C (p.Val1714Leu)
c.5014G>C (p.Val1672Leu)
c.5134G>C (p.Val1712Leu)
c.5062G>C (p.Val1688Leu)
c.1828G>C (p.Val610Leu)
c.1690G>C (p.Val564Leu)
c.4252G>C (p.Val1418Leu)
c.5017G>C (p.Val1673Leu)
c.5206G>C (p.Val1736Leu)
c.4999G>C (p.Val1667Leu)
c.1702G>C (p.Val568Leu)
c.5203G>C (p.Val1735Leu)
c.1527G>C
c.1714G>C (p.Val572Leu)
c.*4923G>C (n.*4923G>C)
c.1453G>C (p.Val485Leu)
c.70G>C (p.Val24Leu)
c.613G>C (p.Val205Leu)
c.-98-13696G>C (n.-98-13696G>C)
n.5276G>C
n.5317G>C
 ClinVar dbSNP
17g.43063886C>TCA10591263BRCA1c.5137G>A (p.Val1713Ile)
c.5140G>A (p.Val1714Ile)
c.5014G>A (p.Val1672Ile)
c.5134G>A (p.Val1712Ile)
c.5062G>A (p.Val1688Ile)
c.1828G>A (p.Val610Ile)
c.1690G>A (p.Val564Ile)
c.4252G>A (p.Val1418Ile)
c.5017G>A (p.Val1673Ile)
c.5206G>A (p.Val1736Ile)
c.4999G>A (p.Val1667Ile)
c.1702G>A (p.Val568Ile)
c.5203G>A (p.Val1735Ile)
c.1527G>A
c.1714G>A (p.Val572Ile)
c.*4923G>A (n.*4923G>A)
c.1453G>A (p.Val485Ile)
c.70G>A (p.Val24Ile)
c.613G>A (p.Val205Ile)
c.-98-13696G>A (n.-98-13696G>A)
n.5276G>A
n.5317G>A
 ClinVar dbSNP
17g.43063887T>ACA500146145BRCA1c.5136A>T (p.Val1712=)
c.5139A>T (p.Val1713=)
c.5013A>T (p.Val1671=)
c.5133A>T (p.Val1711=)
c.5061A>T (p.Val1687=)
c.1827A>T (p.Val609=)
c.1689A>T (p.Val563=)
c.4251A>T (p.Val1417=)
c.5016A>T (p.Val1672=)
c.5205A>T (p.Val1735=)
c.4998A>T (p.Val1666=)
c.1701A>T (p.Val567=)
c.5202A>T (p.Val1734=)
c.1526A>T
c.1713A>T (p.Val571=)
c.*4922A>T (n.*4922A>T)
c.1452A>T (p.Val484=)
c.69A>T (p.Val23=)
c.612A>T (p.Val204=)
c.-98-13697A>T (n.-98-13697A>T)
n.5275A>T
n.5316A>T
 ClinVar dbSNP

Number of alleles fetched