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.43063867_43063872dupCA2739265595BRCA1c.5149+5_5149+10dup (n.5149+5_5149+10dup)
c.5152+5_5152+10dup (n.5152+5_5152+10dup)
c.5026+5_5026+10dup (n.5026+5_5026+10dup)
c.5146+5_5146+10dup (n.5146+5_5146+10dup)
c.5074+5_5074+10dup (n.5074+5_5074+10dup)
c.1840+5_1840+10dup (n.1840+5_1840+10dup)
c.1702+5_1702+10dup (n.1702+5_1702+10dup)
c.4264+5_4264+10dup (n.4264+5_4264+10dup)
c.5029+5_5029+10dup (n.5029+5_5029+10dup)
c.5218+5_5218+10dup (n.5218+5_5218+10dup)
c.5011+5_5011+10dup (n.5011+5_5011+10dup)
c.1714+5_1714+10dup (n.1714+5_1714+10dup)
c.5215+5_5215+10dup (n.5215+5_5215+10dup)
c.1539+5_1539+10dup
c.1726+5_1726+10dup (n.1726+5_1726+10dup)
c.*4935+5_*4935+10dup (n.*4935+5_*4935+10dup)
c.1465+5_1465+10dup (n.1465+5_1465+10dup)
c.82+5_82+10dup (n.82+5_82+10dup)
c.625+5_625+10dup (n.625+5_625+10dup)
c.-98-13679_-98-13674dup (n.-98-13679_-98-13674dup)
n.5288+5_5288+10dup
n.5329+5_5329+10dup
 ClinVar
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.43063872A=CA2260769483BRCA1c.5149+2T= (n.5149+2T=)
c.5152+2T= (n.5152+2T=)
c.5026+2T= (n.5026+2T=)
c.5146+2T= (n.5146+2T=)
c.5074+2T= (n.5074+2T=)
c.1840+2T= (n.1840+2T=)
c.1702+2T= (n.1702+2T=)
c.4264+2T= (n.4264+2T=)
c.5029+2T= (n.5029+2T=)
c.5218+2T= (n.5218+2T=)
c.5011+2T= (n.5011+2T=)
c.1714+2T= (n.1714+2T=)
c.5215+2T= (n.5215+2T=)
c.1539+2T=
c.1726+2T= (n.1726+2T=)
c.*4935+2T= (n.*4935+2T=)
c.1465+2T= (n.1465+2T=)
c.82+2T= (n.82+2T=)
c.625+2T= (n.625+2T=)
c.-98-13682T= (n.-98-13682T=)
n.5288+2T=
n.5329+2T=
17g.43063872A>CCA10591238BRCA1c.5149+2T>G (n.5149+2T>G)
c.5152+2T>G (n.5152+2T>G)
c.5026+2T>G (n.5026+2T>G)
c.5146+2T>G (n.5146+2T>G)
c.5074+2T>G (n.5074+2T>G)
c.1840+2T>G (n.1840+2T>G)
c.1702+2T>G (n.1702+2T>G)
c.4264+2T>G (n.4264+2T>G)
c.5029+2T>G (n.5029+2T>G)
c.5218+2T>G (n.5218+2T>G)
c.5011+2T>G (n.5011+2T>G)
c.1714+2T>G (n.1714+2T>G)
c.5215+2T>G (n.5215+2T>G)
c.1539+2T>G
c.1726+2T>G (n.1726+2T>G)
c.*4935+2T>G (n.*4935+2T>G)
c.1465+2T>G (n.1465+2T>G)
c.82+2T>G (n.82+2T>G)
c.625+2T>G (n.625+2T>G)
c.-98-13682T>G (n.-98-13682T>G)
n.5288+2T>G
n.5329+2T>G
 ClinVar dbSNP
17g.43063872A>GCA10591239BRCA1c.5149+2T>C (n.5149+2T>C)
c.5152+2T>C (n.5152+2T>C)
c.5026+2T>C (n.5026+2T>C)
c.5146+2T>C (n.5146+2T>C)
c.5074+2T>C (n.5074+2T>C)
c.1840+2T>C (n.1840+2T>C)
c.1702+2T>C (n.1702+2T>C)
c.4264+2T>C (n.4264+2T>C)
c.5029+2T>C (n.5029+2T>C)
c.5218+2T>C (n.5218+2T>C)
c.5011+2T>C (n.5011+2T>C)
c.1714+2T>C (n.1714+2T>C)
c.5215+2T>C (n.5215+2T>C)
c.1539+2T>C
c.1726+2T>C (n.1726+2T>C)
c.*4935+2T>C (n.*4935+2T>C)
c.1465+2T>C (n.1465+2T>C)
c.82+2T>C (n.82+2T>C)
c.625+2T>C (n.625+2T>C)
c.-98-13682T>C (n.-98-13682T>C)
n.5288+2T>C
n.5329+2T>C
 ClinVar dbSNP
17g.43063872A>TCA10591240BRCA1c.5149+2T>A (n.5149+2T>A)
c.5152+2T>A (n.5152+2T>A)
c.5026+2T>A (n.5026+2T>A)
c.5146+2T>A (n.5146+2T>A)
c.5074+2T>A (n.5074+2T>A)
c.1840+2T>A (n.1840+2T>A)
c.1702+2T>A (n.1702+2T>A)
c.4264+2T>A (n.4264+2T>A)
c.5029+2T>A (n.5029+2T>A)
c.5218+2T>A (n.5218+2T>A)
c.5011+2T>A (n.5011+2T>A)
c.1714+2T>A (n.1714+2T>A)
c.5215+2T>A (n.5215+2T>A)
c.1539+2T>A
c.1726+2T>A (n.1726+2T>A)
c.*4935+2T>A (n.*4935+2T>A)
c.1465+2T>A (n.1465+2T>A)
c.82+2T>A (n.82+2T>A)
c.625+2T>A (n.625+2T>A)
c.-98-13682T>A (n.-98-13682T>A)
n.5288+2T>A
n.5329+2T>A
 ClinVar dbSNP
17g.43063872dupCA003283BRCA1c.5149+2dup (n.5149+2dup)
c.5152+2dup (n.5152+2dup)
c.5026+2dup (n.5026+2dup)
c.5146+2dup (n.5146+2dup)
c.5074+2dup (n.5074+2dup)
c.1840+2dup (n.1840+2dup)
c.1702+2dup (n.1702+2dup)
c.4264+2dup (n.4264+2dup)
c.5029+2dup (n.5029+2dup)
c.5218+2dup (n.5218+2dup)
c.5011+2dup (n.5011+2dup)
c.1714+2dup (n.1714+2dup)
c.5215+2dup (n.5215+2dup)
c.1539+2dup
c.1726+2dup (n.1726+2dup)
c.*4935+2dup (n.*4935+2dup)
c.1465+2dup (n.1465+2dup)
c.82+2dup (n.82+2dup)
c.625+2dup (n.625+2dup)
c.-98-13682dup (n.-98-13682dup)
n.5288+2dup
n.5329+2dup
 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.43063873C>ACA003281BRCA1c.5149+1G>T (n.5149+1G>T)
c.5152+1G>T (n.5152+1G>T)
c.5026+1G>T (n.5026+1G>T)
c.5146+1G>T (n.5146+1G>T)
c.5074+1G>T (n.5074+1G>T)
c.1840+1G>T (n.1840+1G>T)
c.1702+1G>T (n.1702+1G>T)
c.4264+1G>T (n.4264+1G>T)
c.5029+1G>T (n.5029+1G>T)
c.5218+1G>T (n.5218+1G>T)
c.5011+1G>T (n.5011+1G>T)
c.1714+1G>T (n.1714+1G>T)
c.5215+1G>T (n.5215+1G>T)
c.1539+1G>T
c.1726+1G>T (n.1726+1G>T)
c.*4935+1G>T (n.*4935+1G>T)
c.1465+1G>T (n.1465+1G>T)
c.82+1G>T (n.82+1G>T)
c.625+1G>T (n.625+1G>T)
c.-98-13683G>T (n.-98-13683G>T)
n.5288+1G>T
n.5329+1G>T
 ClinVar dbSNP gnomAD v4
17g.43063873C=CA2260769485BRCA1c.5149+1G= (n.5149+1G=)
c.5152+1G= (n.5152+1G=)
c.5026+1G= (n.5026+1G=)
c.5146+1G= (n.5146+1G=)
c.5074+1G= (n.5074+1G=)
c.1840+1G= (n.1840+1G=)
c.1702+1G= (n.1702+1G=)
c.4264+1G= (n.4264+1G=)
c.5029+1G= (n.5029+1G=)
c.5218+1G= (n.5218+1G=)
c.5011+1G= (n.5011+1G=)
c.1714+1G= (n.1714+1G=)
c.5215+1G= (n.5215+1G=)
c.1539+1G=
c.1726+1G= (n.1726+1G=)
c.*4935+1G= (n.*4935+1G=)
c.1465+1G= (n.1465+1G=)
c.82+1G= (n.82+1G=)
c.625+1G= (n.625+1G=)
c.-98-13683G= (n.-98-13683G=)
n.5288+1G=
n.5329+1G=
17g.43063873C>GCA003280BRCA1c.5149+1G>C (n.5149+1G>C)
c.5152+1G>C (n.5152+1G>C)
c.5026+1G>C (n.5026+1G>C)
c.5146+1G>C (n.5146+1G>C)
c.5074+1G>C (n.5074+1G>C)
c.1840+1G>C (n.1840+1G>C)
c.1702+1G>C (n.1702+1G>C)
c.4264+1G>C (n.4264+1G>C)
c.5029+1G>C (n.5029+1G>C)
c.5218+1G>C (n.5218+1G>C)
c.5011+1G>C (n.5011+1G>C)
c.1714+1G>C (n.1714+1G>C)
c.5215+1G>C (n.5215+1G>C)
c.1539+1G>C
c.1726+1G>C (n.1726+1G>C)
c.*4935+1G>C (n.*4935+1G>C)
c.1465+1G>C (n.1465+1G>C)
c.82+1G>C (n.82+1G>C)
c.625+1G>C (n.625+1G>C)
c.-98-13683G>C (n.-98-13683G>C)
n.5288+1G>C
n.5329+1G>C
 ClinVar dbSNP
17g.43063873C>TCA003279BRCA1c.5149+1G>A (n.5149+1G>A)
c.5152+1G>A (n.5152+1G>A)
c.5026+1G>A (n.5026+1G>A)
c.5146+1G>A (n.5146+1G>A)
c.5074+1G>A (n.5074+1G>A)
c.1840+1G>A (n.1840+1G>A)
c.1702+1G>A (n.1702+1G>A)
c.4264+1G>A (n.4264+1G>A)
c.5029+1G>A (n.5029+1G>A)
c.5218+1G>A (n.5218+1G>A)
c.5011+1G>A (n.5011+1G>A)
c.1714+1G>A (n.1714+1G>A)
c.5215+1G>A (n.5215+1G>A)
c.1539+1G>A
c.1726+1G>A (n.1726+1G>A)
c.*4935+1G>A (n.*4935+1G>A)
c.1465+1G>A (n.1465+1G>A)
c.82+1G>A (n.82+1G>A)
c.625+1G>A (n.625+1G>A)
c.-98-13683G>A (n.-98-13683G>A)
n.5288+1G>A
n.5329+1G>A
 ClinVar dbSNP
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.43063874A=CA2260769486BRCA1c.5149T= (p.Trp1717=)
c.5152T= (p.Trp1718=)
c.5026T= (p.Trp1676=)
c.5146T= (p.Trp1716=)
c.5074T= (p.Trp1692=)
c.1840T= (p.Trp614=)
c.1702T= (p.Trp568=)
c.4264T= (p.Trp1422=)
c.5029T= (p.Trp1677=)
c.5218T= (p.Trp1740=)
c.5011T= (p.Trp1671=)
c.1714T= (p.Trp572=)
c.5215T= (p.Trp1739=)
c.1539T=
c.1726T= (p.Trp576=)
c.*4935T= (n.*4935T=)
c.1465T= (p.Trp489=)
c.82T= (p.Trp28=)
c.625T= (p.Trp209=)
c.-98-13684T= (n.-98-13684T=)
n.5288T=
n.5329T=
17g.43063874A>CCA10591241BRCA1c.5149T>G (p.Trp1717Gly)
c.5152T>G (p.Trp1718Gly)
c.5026T>G (p.Trp1676Gly)
c.5146T>G (p.Trp1716Gly)
c.5074T>G (p.Trp1692Gly)
c.1840T>G (p.Trp614Gly)
c.1702T>G (p.Trp568Gly)
c.4264T>G (p.Trp1422Gly)
c.5029T>G (p.Trp1677Gly)
c.5218T>G (p.Trp1740Gly)
c.5011T>G (p.Trp1671Gly)
c.1714T>G (p.Trp572Gly)
c.5215T>G (p.Trp1739Gly)
c.1539T>G
c.1726T>G (p.Trp576Gly)
c.*4935T>G (n.*4935T>G)
c.1465T>G (p.Trp489Gly)
c.82T>G (p.Trp28Gly)
c.625T>G (p.Trp209Gly)
c.-98-13684T>G (n.-98-13684T>G)
n.5288T>G
n.5329T>G
 ClinVar dbSNP
17g.43063874A>GCA10591242BRCA1c.5149T>C (p.Trp1717Arg)
c.5152T>C (p.Trp1718Arg)
c.5026T>C (p.Trp1676Arg)
c.5146T>C (p.Trp1716Arg)
c.5074T>C (p.Trp1692Arg)
c.1840T>C (p.Trp614Arg)
c.1702T>C (p.Trp568Arg)
c.4264T>C (p.Trp1422Arg)
c.5029T>C (p.Trp1677Arg)
c.5218T>C (p.Trp1740Arg)
c.5011T>C (p.Trp1671Arg)
c.1714T>C (p.Trp572Arg)
c.5215T>C (p.Trp1739Arg)
c.1539T>C
c.1726T>C (p.Trp576Arg)
c.*4935T>C (n.*4935T>C)
c.1465T>C (p.Trp489Arg)
c.82T>C (p.Trp28Arg)
c.625T>C (p.Trp209Arg)
c.-98-13684T>C (n.-98-13684T>C)
n.5288T>C
n.5329T>C
 ClinVar dbSNP
17g.43063874A>TCA10591243BRCA1c.5149T>A (p.Trp1717Arg)
c.5152T>A (p.Trp1718Arg)
c.5026T>A (p.Trp1676Arg)
c.5146T>A (p.Trp1716Arg)
c.5074T>A (p.Trp1692Arg)
c.1840T>A (p.Trp614Arg)
c.1702T>A (p.Trp568Arg)
c.4264T>A (p.Trp1422Arg)
c.5029T>A (p.Trp1677Arg)
c.5218T>A (p.Trp1740Arg)
c.5011T>A (p.Trp1671Arg)
c.1714T>A (p.Trp572Arg)
c.5215T>A (p.Trp1739Arg)
c.1539T>A
c.1726T>A (p.Trp576Arg)
c.*4935T>A (n.*4935T>A)
c.1465T>A (p.Trp489Arg)
c.82T>A (p.Trp28Arg)
c.625T>A (p.Trp209Arg)
c.-98-13684T>A (n.-98-13684T>A)
n.5288T>A
n.5329T>A
 ClinVar dbSNP
17g.43063875_43063877delCA2733911657BRCA1c.5147_5149del (p.Phe1716del)
c.5150_5152del (p.Phe1717del)
c.5024_5026del (p.Phe1675del)
c.5144_5146del (p.Phe1715del)
c.5072_5074del (p.Phe1691del)
c.1838_1840del (p.Phe613del)
c.1700_1702del (p.Phe567del)
c.4262_4264del (p.Phe1421del)
c.5027_5029del (p.Phe1676del)
c.5216_5218del (p.Phe1739del)
c.5009_5011del (p.Phe1670del)
c.1712_1714del (p.Phe571del)
c.5213_5215del (p.Phe1738del)
c.1537_1539del
c.1724_1726del (p.Phe575del)
c.*4933_*4935del (n.*4933_*4935del)
c.1463_1465del (p.Phe488del)
c.80_82del (p.Phe27del)
c.623_625del (p.Phe208del)
c.-98-13686_-98-13684del (n.-98-13686_-98-13684del)
n.5286_5288del
n.5327_5329del
 dbSNP
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.43063875G>ACA500146130BRCA1c.5148C>T (p.Phe1716=)
c.5151C>T (p.Phe1717=)
c.5025C>T (p.Phe1675=)
c.5145C>T (p.Phe1715=)
c.5073C>T (p.Phe1691=)
c.1839C>T (p.Phe613=)
c.1701C>T (p.Phe567=)
c.4263C>T (p.Phe1421=)
c.5028C>T (p.Phe1676=)
c.5217C>T (p.Phe1739=)
c.5010C>T (p.Phe1670=)
c.1713C>T (p.Phe571=)
c.5214C>T (p.Phe1738=)
c.1538C>T
c.1725C>T (p.Phe575=)
c.*4934C>T (n.*4934C>T)
c.1464C>T (p.Phe488=)
c.81C>T (p.Phe27=)
c.624C>T (p.Phe208=)
c.-98-13685C>T (n.-98-13685C>T)
n.5287C>T
n.5328C>T
 ClinVar dbSNP
17g.43063875G>CCA10591244BRCA1c.5148C>G (p.Phe1716Leu)
c.5151C>G (p.Phe1717Leu)
c.5025C>G (p.Phe1675Leu)
c.5145C>G (p.Phe1715Leu)
c.5073C>G (p.Phe1691Leu)
c.1839C>G (p.Phe613Leu)
c.1701C>G (p.Phe567Leu)
c.4263C>G (p.Phe1421Leu)
c.5028C>G (p.Phe1676Leu)
c.5217C>G (p.Phe1739Leu)
c.5010C>G (p.Phe1670Leu)
c.1713C>G (p.Phe571Leu)
c.5214C>G (p.Phe1738Leu)
c.1538C>G
c.1725C>G (p.Phe575Leu)
c.*4934C>G (n.*4934C>G)
c.1464C>G (p.Phe488Leu)
c.81C>G (p.Phe27Leu)
c.624C>G (p.Phe208Leu)
c.-98-13685C>G (n.-98-13685C>G)
n.5287C>G
n.5328C>G
 ClinVar dbSNP
17g.43063875G=CA2260769488BRCA1c.5148C= (p.Phe1716=)
c.5151C= (p.Phe1717=)
c.5025C= (p.Phe1675=)
c.5145C= (p.Phe1715=)
c.5073C= (p.Phe1691=)
c.1839C= (p.Phe613=)
c.1701C= (p.Phe567=)
c.4263C= (p.Phe1421=)
c.5028C= (p.Phe1676=)
c.5217C= (p.Phe1739=)
c.5010C= (p.Phe1670=)
c.1713C= (p.Phe571=)
c.5214C= (p.Phe1738=)
c.1538C=
c.1725C= (p.Phe575=)
c.*4934C= (n.*4934C=)
c.1464C= (p.Phe488=)
c.81C= (p.Phe27=)
c.624C= (p.Phe208=)
c.-98-13685C= (n.-98-13685C=)
n.5287C=
n.5328C=
17g.43063875G>TCA10591245BRCA1c.5148C>A (p.Phe1716Leu)
c.5151C>A (p.Phe1717Leu)
c.5025C>A (p.Phe1675Leu)
c.5145C>A (p.Phe1715Leu)
c.5073C>A (p.Phe1691Leu)
c.1839C>A (p.Phe613Leu)
c.1701C>A (p.Phe567Leu)
c.4263C>A (p.Phe1421Leu)
c.5028C>A (p.Phe1676Leu)
c.5217C>A (p.Phe1739Leu)
c.5010C>A (p.Phe1670Leu)
c.1713C>A (p.Phe571Leu)
c.5214C>A (p.Phe1738Leu)
c.1538C>A
c.1725C>A (p.Phe575Leu)
c.*4934C>A (n.*4934C>A)
c.1464C>A (p.Phe488Leu)
c.81C>A (p.Phe27Leu)
c.624C>A (p.Phe208Leu)
c.-98-13685C>A (n.-98-13685C>A)
n.5287C>A
n.5328C>A
 ClinVar dbSNP
17g.43063875_43063876delinsGACA2260769487BRCA1c.5147_5148delinsTC (p.Phe1716=)
c.5150_5151delinsTC (p.Phe1717=)
c.5024_5025delinsTC (p.Phe1675=)
c.5144_5145delinsTC (p.Phe1715=)
c.5072_5073delinsTC (p.Phe1691=)
c.1838_1839delinsTC (p.Phe613=)
c.1700_1701delinsTC (p.Phe567=)
c.4262_4263delinsTC (p.Phe1421=)
c.5027_5028delinsTC (p.Phe1676=)
c.5216_5217delinsTC (p.Phe1739=)
c.5009_5010delinsTC (p.Phe1670=)
c.1712_1713delinsTC (p.Phe571=)
c.5213_5214delinsTC (p.Phe1738=)
c.1537_1538delinsTC
c.1724_1725delinsTC (p.Phe575=)
c.*4933_*4934delinsTC (n.*4933_*4934delinsTC)
c.1463_1464delinsTC (p.Phe488=)
c.80_81delinsTC (p.Phe27=)
c.623_624delinsTC (p.Phe208=)
c.-98-13686_-98-13685delinsTC (n.-98-13686_-98-13685delinsTC)
n.5286_5287delinsTC
n.5327_5328delinsTC
17g.43063876A=CA2260769489BRCA1c.5147T= (p.Phe1716=)
c.5150T= (p.Phe1717=)
c.5024T= (p.Phe1675=)
c.5144T= (p.Phe1715=)
c.5072T= (p.Phe1691=)
c.1838T= (p.Phe613=)
c.1700T= (p.Phe567=)
c.4262T= (p.Phe1421=)
c.5027T= (p.Phe1676=)
c.5216T= (p.Phe1739=)
c.5009T= (p.Phe1670=)
c.1712T= (p.Phe571=)
c.5213T= (p.Phe1738=)
c.1537T=
c.1724T= (p.Phe575=)
c.*4933T= (n.*4933T=)
c.1463T= (p.Phe488=)
c.80T= (p.Phe27=)
c.623T= (p.Phe208=)
c.-98-13686T= (n.-98-13686T=)
n.5286T=
n.5327T=
17g.43063876A>CCA10591246BRCA1c.5147T>G (p.Phe1716Cys)
c.5150T>G (p.Phe1717Cys)
c.5024T>G (p.Phe1675Cys)
c.5144T>G (p.Phe1715Cys)
c.5072T>G (p.Phe1691Cys)
c.1838T>G (p.Phe613Cys)
c.1700T>G (p.Phe567Cys)
c.4262T>G (p.Phe1421Cys)
c.5027T>G (p.Phe1676Cys)
c.5216T>G (p.Phe1739Cys)
c.5009T>G (p.Phe1670Cys)
c.1712T>G (p.Phe571Cys)
c.5213T>G (p.Phe1738Cys)
c.1537T>G
c.1724T>G (p.Phe575Cys)
c.*4933T>G (n.*4933T>G)
c.1463T>G (p.Phe488Cys)
c.80T>G (p.Phe27Cys)
c.623T>G (p.Phe208Cys)
c.-98-13686T>G (n.-98-13686T>G)
n.5286T>G
n.5327T>G
 ClinVar dbSNP
17g.43063876A>GCA10591247BRCA1c.5147T>C (p.Phe1716Ser)
c.5150T>C (p.Phe1717Ser)
c.5024T>C (p.Phe1675Ser)
c.5144T>C (p.Phe1715Ser)
c.5072T>C (p.Phe1691Ser)
c.1838T>C (p.Phe613Ser)
c.1700T>C (p.Phe567Ser)
c.4262T>C (p.Phe1421Ser)
c.5027T>C (p.Phe1676Ser)
c.5216T>C (p.Phe1739Ser)
c.5009T>C (p.Phe1670Ser)
c.1712T>C (p.Phe571Ser)
c.5213T>C (p.Phe1738Ser)
c.1537T>C
c.1724T>C (p.Phe575Ser)
c.*4933T>C (n.*4933T>C)
c.1463T>C (p.Phe488Ser)
c.80T>C (p.Phe27Ser)
c.623T>C (p.Phe208Ser)
c.-98-13686T>C (n.-98-13686T>C)
n.5286T>C
n.5327T>C
 ClinVar dbSNP
17g.43063876A>TCA10591248BRCA1c.5147T>A (p.Phe1716Tyr)
c.5150T>A (p.Phe1717Tyr)
c.5024T>A (p.Phe1675Tyr)
c.5144T>A (p.Phe1715Tyr)
c.5072T>A (p.Phe1691Tyr)
c.1838T>A (p.Phe613Tyr)
c.1700T>A (p.Phe567Tyr)
c.4262T>A (p.Phe1421Tyr)
c.5027T>A (p.Phe1676Tyr)
c.5216T>A (p.Phe1739Tyr)
c.5009T>A (p.Phe1670Tyr)
c.1712T>A (p.Phe571Tyr)
c.5213T>A (p.Phe1738Tyr)
c.1537T>A
c.1724T>A (p.Phe575Tyr)
c.*4933T>A (n.*4933T>A)
c.1463T>A (p.Phe488Tyr)
c.80T>A (p.Phe27Tyr)
c.623T>A (p.Phe208Tyr)
c.-98-13686T>A (n.-98-13686T>A)
n.5286T>A
n.5327T>A
 ClinVar dbSNP
17g.43063878dupCA2739290976BRCA1c.5147dup (p.Trp1717LeufsTer7)
c.5150dup (p.Trp1718LeufsTer7)
c.5024dup (p.Trp1676LeufsTer7)
c.5144dup (p.Trp1716LeufsTer7)
c.5072dup (p.Trp1692LeufsTer7)
c.1838dup (p.Trp614LeufsTer7)
c.1700dup (p.Trp568LeufsTer7)
c.4262dup (p.Trp1422LeufsTer7)
c.5027dup (p.Trp1677LeufsTer7)
c.5216dup (p.Trp1740LeufsTer7)
c.5009dup (p.Trp1671LeufsTer7)
c.1712dup (p.Trp572LeufsTer7)
c.5213dup (p.Trp1739LeufsTer7)
c.1537dup
c.1724dup (p.Trp576LeufsTer7)
c.*4933dup (n.*4933dup)
c.1463dup (p.Trp489LeufsTer7)
c.1700dup (p.Trp568LeufsTer?)
c.80dup (p.Trp28LeufsTer7)
c.623dup (p.Trp209LeufsTer7)
c.-98-13686dup (n.-98-13686dup)
n.5286dup
n.5327dup
17g.43063878delCA003275BRCA1c.5147del (p.Phe1716SerfsTer3)
c.5150del (p.Phe1717SerfsTer3)
c.5024del (p.Phe1675SerfsTer3)
c.5144del (p.Phe1715SerfsTer3)
c.5072del (p.Phe1691SerfsTer3)
c.1838del (p.Phe613SerfsTer3)
c.1700del (p.Phe567SerfsTer3)
c.4262del (p.Phe1421SerfsTer3)
c.5027del (p.Phe1676SerfsTer3)
c.5216del (p.Phe1739SerfsTer3)
c.5009del (p.Phe1670SerfsTer3)
c.1712del (p.Phe571SerfsTer3)
c.5213del (p.Phe1738SerfsTer3)
c.1537del
c.1724del (p.Phe575SerfsTer3)
c.*4933del (n.*4933del)
c.1463del (p.Phe488SerfsTer3)
c.80del (p.Phe27SerfsTer3)
c.623del (p.Phe208SerfsTer3)
c.-98-13686del (n.-98-13686del)
n.5286del
n.5327del
 ClinVar dbSNP
17g.43063877A=CA2260769490BRCA1c.5146T= (p.Phe1716=)
c.5149T= (p.Phe1717=)
c.5023T= (p.Phe1675=)
c.5143T= (p.Phe1715=)
c.5071T= (p.Phe1691=)
c.1837T= (p.Phe613=)
c.1699T= (p.Phe567=)
c.4261T= (p.Phe1421=)
c.5026T= (p.Phe1676=)
c.5215T= (p.Phe1739=)
c.5008T= (p.Phe1670=)
c.1711T= (p.Phe571=)
c.5212T= (p.Phe1738=)
c.1536T=
c.1723T= (p.Phe575=)
c.*4932T= (n.*4932T=)
c.1462T= (p.Phe488=)
c.79T= (p.Phe27=)
c.622T= (p.Phe208=)
c.-98-13687T= (n.-98-13687T=)
n.5285T=
n.5326T=
17g.43063877A>CCA10591249BRCA1c.5146T>G (p.Phe1716Val)
c.5149T>G (p.Phe1717Val)
c.5023T>G (p.Phe1675Val)
c.5143T>G (p.Phe1715Val)
c.5071T>G (p.Phe1691Val)
c.1837T>G (p.Phe613Val)
c.1699T>G (p.Phe567Val)
c.4261T>G (p.Phe1421Val)
c.5026T>G (p.Phe1676Val)
c.5215T>G (p.Phe1739Val)
c.5008T>G (p.Phe1670Val)
c.1711T>G (p.Phe571Val)
c.5212T>G (p.Phe1738Val)
c.1536T>G
c.1723T>G (p.Phe575Val)
c.*4932T>G (n.*4932T>G)
c.1462T>G (p.Phe488Val)
c.79T>G (p.Phe27Val)
c.622T>G (p.Phe208Val)
c.-98-13687T>G (n.-98-13687T>G)
n.5285T>G
n.5326T>G
 ClinVar dbSNP
17g.43063877A>GCA10591250BRCA1c.5146T>C (p.Phe1716Leu)
c.5149T>C (p.Phe1717Leu)
c.5023T>C (p.Phe1675Leu)
c.5143T>C (p.Phe1715Leu)
c.5071T>C (p.Phe1691Leu)
c.1837T>C (p.Phe613Leu)
c.1699T>C (p.Phe567Leu)
c.4261T>C (p.Phe1421Leu)
c.5026T>C (p.Phe1676Leu)
c.5215T>C (p.Phe1739Leu)
c.5008T>C (p.Phe1670Leu)
c.1711T>C (p.Phe571Leu)
c.5212T>C (p.Phe1738Leu)
c.1536T>C
c.1723T>C (p.Phe575Leu)
c.*4932T>C (n.*4932T>C)
c.1462T>C (p.Phe488Leu)
c.79T>C (p.Phe27Leu)
c.622T>C (p.Phe208Leu)
c.-98-13687T>C (n.-98-13687T>C)
n.5285T>C
n.5326T>C
 ClinVar dbSNP
17g.43063877A>TCA10591251BRCA1c.5146T>A (p.Phe1716Ile)
c.5149T>A (p.Phe1717Ile)
c.5023T>A (p.Phe1675Ile)
c.5143T>A (p.Phe1715Ile)
c.5071T>A (p.Phe1691Ile)
c.1837T>A (p.Phe613Ile)
c.1699T>A (p.Phe567Ile)
c.4261T>A (p.Phe1421Ile)
c.5026T>A (p.Phe1676Ile)
c.5215T>A (p.Phe1739Ile)
c.5008T>A (p.Phe1670Ile)
c.1711T>A (p.Phe571Ile)
c.5212T>A (p.Phe1738Ile)
c.1536T>A
c.1723T>A (p.Phe575Ile)
c.*4932T>A (n.*4932T>A)
c.1462T>A (p.Phe488Ile)
c.79T>A (p.Phe27Ile)
c.622T>A (p.Phe208Ile)
c.-98-13687T>A (n.-98-13687T>A)
n.5285T>A
n.5326T>A
 ClinVar dbSNP
17g.43063877_43063878insGCA658824721BRCA1c.5145_5146insC (p.Phe1716LeufsTer8)
c.5148_5149insC (p.Phe1717LeufsTer8)
c.5022_5023insC (p.Phe1675LeufsTer8)
c.5142_5143insC (p.Phe1715LeufsTer8)
c.5070_5071insC (p.Phe1691LeufsTer8)
c.1836_1837insC (p.Phe613LeufsTer8)
c.1698_1699insC (p.Phe567LeufsTer8)
c.4260_4261insC (p.Phe1421LeufsTer8)
c.5025_5026insC (p.Phe1676LeufsTer8)
c.5214_5215insC (p.Phe1739LeufsTer8)
c.5007_5008insC (p.Phe1670LeufsTer8)
c.1710_1711insC (p.Phe571LeufsTer8)
c.5211_5212insC (p.Phe1738LeufsTer8)
c.1535_1536insC
c.1722_1723insC (p.Phe575LeufsTer8)
c.*4931_*4932insC (n.*4931_*4932insC)
c.1461_1462insC (p.Phe488LeufsTer8)
c.1698_1699insC (p.Phe567LeufsTer?)
c.78_79insC (p.Phe27LeufsTer8)
c.621_622insC (p.Phe208LeufsTer8)
c.-98-13688_-98-13687insC (n.-98-13688_-98-13687insC)
n.5284_5285insC
n.5325_5326insC
 ClinVar dbSNP
17g.43063878A=CA2260769492BRCA1c.5145T= (p.Tyr1715=)
c.5148T= (p.Tyr1716=)
c.5022T= (p.Tyr1674=)
c.5142T= (p.Tyr1714=)
c.5070T= (p.Tyr1690=)
c.1836T= (p.Tyr612=)
c.1698T= (p.Tyr566=)
c.4260T= (p.Tyr1420=)
c.5025T= (p.Tyr1675=)
c.5214T= (p.Tyr1738=)
c.5007T= (p.Tyr1669=)
c.1710T= (p.Tyr570=)
c.5211T= (p.Tyr1737=)
c.1535T=
c.1722T= (p.Tyr574=)
c.*4931T= (n.*4931T=)
c.1461T= (p.Tyr487=)
c.78T= (p.Tyr26=)
c.621T= (p.Tyr207=)
c.-98-13688T= (n.-98-13688T=)
n.5284T=
n.5325T=
17g.43063878A>CCA003272BRCA1c.5145T>G (p.Tyr1715Ter)
c.5148T>G (p.Tyr1716Ter)
c.5022T>G (p.Tyr1674Ter)
c.5142T>G (p.Tyr1714Ter)
c.5070T>G (p.Tyr1690Ter)
c.1836T>G (p.Tyr612Ter)
c.1698T>G (p.Tyr566Ter)
c.4260T>G (p.Tyr1420Ter)
c.5025T>G (p.Tyr1675Ter)
c.5214T>G (p.Tyr1738Ter)
c.5007T>G (p.Tyr1669Ter)
c.1710T>G (p.Tyr570Ter)
c.5211T>G (p.Tyr1737Ter)
c.1535T>G
c.1722T>G (p.Tyr574Ter)
c.*4931T>G (n.*4931T>G)
c.1461T>G (p.Tyr487Ter)
c.78T>G (p.Tyr26Ter)
c.621T>G (p.Tyr207Ter)
c.-98-13688T>G (n.-98-13688T>G)
n.5284T>G
n.5325T>G
 ClinVar dbSNP
17g.43063878A>GCA500146135BRCA1c.5145T>C (p.Tyr1715=)
c.5148T>C (p.Tyr1716=)
c.5022T>C (p.Tyr1674=)
c.5142T>C (p.Tyr1714=)
c.5070T>C (p.Tyr1690=)
c.1836T>C (p.Tyr612=)
c.1698T>C (p.Tyr566=)
c.4260T>C (p.Tyr1420=)
c.5025T>C (p.Tyr1675=)
c.5214T>C (p.Tyr1738=)
c.5007T>C (p.Tyr1669=)
c.1710T>C (p.Tyr570=)
c.5211T>C (p.Tyr1737=)
c.1535T>C
c.1722T>C (p.Tyr574=)
c.*4931T>C (n.*4931T>C)
c.1461T>C (p.Tyr487=)
c.78T>C (p.Tyr26=)
c.621T>C (p.Tyr207=)
c.-98-13688T>C (n.-98-13688T>C)
n.5284T>C
n.5325T>C
 ClinVar dbSNP
17g.43063878A>TCA10589616BRCA1c.5145T>A (p.Tyr1715Ter)
c.5148T>A (p.Tyr1716Ter)
c.5022T>A (p.Tyr1674Ter)
c.5142T>A (p.Tyr1714Ter)
c.5070T>A (p.Tyr1690Ter)
c.1836T>A (p.Tyr612Ter)
c.1698T>A (p.Tyr566Ter)
c.4260T>A (p.Tyr1420Ter)
c.5025T>A (p.Tyr1675Ter)
c.5214T>A (p.Tyr1738Ter)
c.5007T>A (p.Tyr1669Ter)
c.1710T>A (p.Tyr570Ter)
c.5211T>A (p.Tyr1737Ter)
c.1535T>A
c.1722T>A (p.Tyr574Ter)
c.*4931T>A (n.*4931T>A)
c.1461T>A (p.Tyr487Ter)
c.78T>A (p.Tyr26Ter)
c.621T>A (p.Tyr207Ter)
c.-98-13688T>A (n.-98-13688T>A)
n.5284T>A
n.5325T>A
 ClinVar dbSNP
17g.43063878_43063880delinsATACA2260769491BRCA1c.5143_5145delinsTAT (p.Tyr1715=)
c.5146_5148delinsTAT (p.Tyr1716=)
c.5020_5022delinsTAT (p.Tyr1674=)
c.5140_5142delinsTAT (p.Tyr1714=)
c.5068_5070delinsTAT (p.Tyr1690=)
c.1834_1836delinsTAT (p.Tyr612=)
c.1696_1698delinsTAT (p.Tyr566=)
c.4258_4260delinsTAT (p.Tyr1420=)
c.5023_5025delinsTAT (p.Tyr1675=)
c.5212_5214delinsTAT (p.Tyr1738=)
c.5005_5007delinsTAT (p.Tyr1669=)
c.1708_1710delinsTAT (p.Tyr570=)
c.5209_5211delinsTAT (p.Tyr1737=)
c.1533_1535delinsTAT
c.1720_1722delinsTAT (p.Tyr574=)
c.*4929_*4931delinsTAT (n.*4929_*4931delinsTAT)
c.1459_1461delinsTAT (p.Tyr487=)
c.76_78delinsTAT (p.Tyr26=)
c.619_621delinsTAT (p.Tyr207=)
c.-98-13690_-98-13688delinsTAT (n.-98-13690_-98-13688delinsTAT)
n.5282_5284delinsTAT
n.5323_5325delinsTAT
17g.43063878_43063880delinsTTTCA658684105BRCA1c.5143_5145delinsAAA (p.Tyr1715Lys)
c.5146_5148delinsAAA (p.Tyr1716Lys)
c.5020_5022delinsAAA (p.Tyr1674Lys)
c.5140_5142delinsAAA (p.Tyr1714Lys)
c.5068_5070delinsAAA (p.Tyr1690Lys)
c.1834_1836delinsAAA (p.Tyr612Lys)
c.1696_1698delinsAAA (p.Tyr566Lys)
c.4258_4260delinsAAA (p.Tyr1420Lys)
c.5023_5025delinsAAA (p.Tyr1675Lys)
c.5212_5214delinsAAA (p.Tyr1738Lys)
c.5005_5007delinsAAA (p.Tyr1669Lys)
c.1708_1710delinsAAA (p.Tyr570Lys)
c.5209_5211delinsAAA (p.Tyr1737Lys)
c.1533_1535delinsAAA
c.1720_1722delinsAAA (p.Tyr574Lys)
c.*4929_*4931delinsAAA (n.*4929_*4931delinsAAA)
c.1459_1461delinsAAA (p.Tyr487Lys)
c.76_78delinsAAA (p.Tyr26Lys)
c.619_621delinsAAA (p.Tyr207Lys)
c.-98-13690_-98-13688delinsAAA (n.-98-13690_-98-13688delinsAAA)
n.5282_5284delinsAAA
n.5323_5325delinsAAA
 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.43063878_43063879insGCA645373157BRCA1c.5144_5145insC (p.Trp1717LeufsTer7)
c.5147_5148insC (p.Trp1718LeufsTer7)
c.5021_5022insC (p.Trp1676LeufsTer7)
c.5141_5142insC (p.Trp1716LeufsTer7)
c.5069_5070insC (p.Trp1692LeufsTer7)
c.1835_1836insC (p.Trp614LeufsTer7)
c.1697_1698insC (p.Trp568LeufsTer7)
c.4259_4260insC (p.Trp1422LeufsTer7)
c.5024_5025insC (p.Trp1677LeufsTer7)
c.5213_5214insC (p.Trp1740LeufsTer7)
c.5006_5007insC (p.Trp1671LeufsTer7)
c.1709_1710insC (p.Trp572LeufsTer7)
c.5210_5211insC (p.Trp1739LeufsTer7)
c.1534_1535insC
c.1721_1722insC (p.Trp576LeufsTer7)
c.*4930_*4931insC (n.*4930_*4931insC)
c.1460_1461insC (p.Trp489LeufsTer7)
c.1697_1698insC (p.Trp568LeufsTer?)
c.77_78insC (p.Trp28LeufsTer7)
c.620_621insC (p.Trp209LeufsTer7)
c.-98-13689_-98-13688insC (n.-98-13689_-98-13688insC)
n.5283_5284insC
n.5324_5325insC
 ClinVar dbSNP
17g.43063879T>ACA10591252BRCA1c.5144A>T (p.Tyr1715Phe)
c.5147A>T (p.Tyr1716Phe)
c.5021A>T (p.Tyr1674Phe)
c.5141A>T (p.Tyr1714Phe)
c.5069A>T (p.Tyr1690Phe)
c.1835A>T (p.Tyr612Phe)
c.1697A>T (p.Tyr566Phe)
c.4259A>T (p.Tyr1420Phe)
c.5024A>T (p.Tyr1675Phe)
c.5213A>T (p.Tyr1738Phe)
c.5006A>T (p.Tyr1669Phe)
c.1709A>T (p.Tyr570Phe)
c.5210A>T (p.Tyr1737Phe)
c.1534A>T
c.1721A>T (p.Tyr574Phe)
c.*4930A>T (n.*4930A>T)
c.1460A>T (p.Tyr487Phe)
c.77A>T (p.Tyr26Phe)
c.620A>T (p.Tyr207Phe)
c.-98-13689A>T (n.-98-13689A>T)
n.5283A>T
n.5324A>T
 ClinVar dbSNP
17g.43063879T>CCA003271BRCA1c.5144A>G (p.Tyr1715Cys)
c.5147A>G (p.Tyr1716Cys)
c.5021A>G (p.Tyr1674Cys)
c.5141A>G (p.Tyr1714Cys)
c.5069A>G (p.Tyr1690Cys)
c.1835A>G (p.Tyr612Cys)
c.1697A>G (p.Tyr566Cys)
c.4259A>G (p.Tyr1420Cys)
c.5024A>G (p.Tyr1675Cys)
c.5213A>G (p.Tyr1738Cys)
c.5006A>G (p.Tyr1669Cys)
c.1709A>G (p.Tyr570Cys)
c.5210A>G (p.Tyr1737Cys)
c.1534A>G
c.1721A>G (p.Tyr574Cys)
c.*4930A>G (n.*4930A>G)
c.1460A>G (p.Tyr487Cys)
c.77A>G (p.Tyr26Cys)
c.620A>G (p.Tyr207Cys)
c.-98-13689A>G (n.-98-13689A>G)
n.5283A>G
n.5324A>G
 ClinVar dbSNP gnomAD v4
17g.43063879T>GCA003270BRCA1c.5144A>C (p.Tyr1715Ser)
c.5147A>C (p.Tyr1716Ser)
c.5021A>C (p.Tyr1674Ser)
c.5141A>C (p.Tyr1714Ser)
c.5069A>C (p.Tyr1690Ser)
c.1835A>C (p.Tyr612Ser)
c.1697A>C (p.Tyr566Ser)
c.4259A>C (p.Tyr1420Ser)
c.5024A>C (p.Tyr1675Ser)
c.5213A>C (p.Tyr1738Ser)
c.5006A>C (p.Tyr1669Ser)
c.1709A>C (p.Tyr570Ser)
c.5210A>C (p.Tyr1737Ser)
c.1534A>C
c.1721A>C (p.Tyr574Ser)
c.*4930A>C (n.*4930A>C)
c.1460A>C (p.Tyr487Ser)
c.77A>C (p.Tyr26Ser)
c.620A>C (p.Tyr207Ser)
c.-98-13689A>C (n.-98-13689A>C)
n.5283A>C
n.5324A>C
 ClinVar dbSNP
17g.43063879T=CA2260769493BRCA1c.5144A= (p.Tyr1715=)
c.5147A= (p.Tyr1716=)
c.5021A= (p.Tyr1674=)
c.5141A= (p.Tyr1714=)
c.5069A= (p.Tyr1690=)
c.1835A= (p.Tyr612=)
c.1697A= (p.Tyr566=)
c.4259A= (p.Tyr1420=)
c.5024A= (p.Tyr1675=)
c.5213A= (p.Tyr1738=)
c.5006A= (p.Tyr1669=)
c.1709A= (p.Tyr570=)
c.5210A= (p.Tyr1737=)
c.1534A=
c.1721A= (p.Tyr574=)
c.*4930A= (n.*4930A=)
c.1460A= (p.Tyr487=)
c.77A= (p.Tyr26=)
c.620A= (p.Tyr207=)
c.-98-13689A= (n.-98-13689A=)
n.5283A=
n.5324A=
17g.43063880A=CA2260769494BRCA1c.5143T= (p.Tyr1715=)
c.5146T= (p.Tyr1716=)
c.5020T= (p.Tyr1674=)
c.5140T= (p.Tyr1714=)
c.5068T= (p.Tyr1690=)
c.1834T= (p.Tyr612=)
c.1696T= (p.Tyr566=)
c.4258T= (p.Tyr1420=)
c.5023T= (p.Tyr1675=)
c.5212T= (p.Tyr1738=)
c.5005T= (p.Tyr1669=)
c.1708T= (p.Tyr570=)
c.5209T= (p.Tyr1737=)
c.1533T=
c.1720T= (p.Tyr574=)
c.*4929T= (n.*4929T=)
c.1459T= (p.Tyr487=)
c.76T= (p.Tyr26=)
c.619T= (p.Tyr207=)
c.-98-13690T= (n.-98-13690T=)
n.5282T=
n.5323T=
17g.43063880A>CCA10591253BRCA1c.5143T>G (p.Tyr1715Asp)
c.5146T>G (p.Tyr1716Asp)
c.5020T>G (p.Tyr1674Asp)
c.5140T>G (p.Tyr1714Asp)
c.5068T>G (p.Tyr1690Asp)
c.1834T>G (p.Tyr612Asp)
c.1696T>G (p.Tyr566Asp)
c.4258T>G (p.Tyr1420Asp)
c.5023T>G (p.Tyr1675Asp)
c.5212T>G (p.Tyr1738Asp)
c.5005T>G (p.Tyr1669Asp)
c.1708T>G (p.Tyr570Asp)
c.5209T>G (p.Tyr1737Asp)
c.1533T>G
c.1720T>G (p.Tyr574Asp)
c.*4929T>G (n.*4929T>G)
c.1459T>G (p.Tyr487Asp)
c.76T>G (p.Tyr26Asp)
c.619T>G (p.Tyr207Asp)
c.-98-13690T>G (n.-98-13690T>G)
n.5282T>G
n.5323T>G
 ClinVar dbSNP
17g.43063880A>GCA10591254BRCA1c.5143T>C (p.Tyr1715His)
c.5146T>C (p.Tyr1716His)
c.5020T>C (p.Tyr1674His)
c.5140T>C (p.Tyr1714His)
c.5068T>C (p.Tyr1690His)
c.1834T>C (p.Tyr612His)
c.1696T>C (p.Tyr566His)
c.4258T>C (p.Tyr1420His)
c.5023T>C (p.Tyr1675His)
c.5212T>C (p.Tyr1738His)
c.5005T>C (p.Tyr1669His)
c.1708T>C (p.Tyr570His)
c.5209T>C (p.Tyr1737His)
c.1533T>C
c.1720T>C (p.Tyr574His)
c.*4929T>C (n.*4929T>C)
c.1459T>C (p.Tyr487His)
c.76T>C (p.Tyr26His)
c.619T>C (p.Tyr207His)
c.-98-13690T>C (n.-98-13690T>C)
n.5282T>C
n.5323T>C
 ClinVar dbSNP
17g.43063880A>TCA10591255BRCA1c.5143T>A (p.Tyr1715Asn)
c.5146T>A (p.Tyr1716Asn)
c.5020T>A (p.Tyr1674Asn)
c.5140T>A (p.Tyr1714Asn)
c.5068T>A (p.Tyr1690Asn)
c.1834T>A (p.Tyr612Asn)
c.1696T>A (p.Tyr566Asn)
c.4258T>A (p.Tyr1420Asn)
c.5023T>A (p.Tyr1675Asn)
c.5212T>A (p.Tyr1738Asn)
c.5005T>A (p.Tyr1669Asn)
c.1708T>A (p.Tyr570Asn)
c.5209T>A (p.Tyr1737Asn)
c.1533T>A
c.1720T>A (p.Tyr574Asn)
c.*4929T>A (n.*4929T>A)
c.1459T>A (p.Tyr487Asn)
c.76T>A (p.Tyr26Asn)
c.619T>A (p.Tyr207Asn)
c.-98-13690T>A (n.-98-13690T>A)
n.5282T>A
n.5323T>A
 ClinVar dbSNP
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
17g.43063887T>CCA500146147BRCA1c.5136A>G (p.Val1712=)
c.5139A>G (p.Val1713=)
c.5013A>G (p.Val1671=)
c.5133A>G (p.Val1711=)
c.5061A>G (p.Val1687=)
c.1827A>G (p.Val609=)
c.1689A>G (p.Val563=)
c.4251A>G (p.Val1417=)
c.5016A>G (p.Val1672=)
c.5205A>G (p.Val1735=)
c.4998A>G (p.Val1666=)
c.1701A>G (p.Val567=)
c.5202A>G (p.Val1734=)
c.1526A>G
c.1713A>G (p.Val571=)
c.*4922A>G (n.*4922A>G)
c.1452A>G (p.Val484=)
c.69A>G (p.Val23=)
c.612A>G (p.Val204=)
c.-98-13697A>G (n.-98-13697A>G)
n.5275A>G
n.5316A>G
 ClinVar dbSNP gnomAD v4
17g.43063887T>GCA500146148BRCA1c.5136A>C (p.Val1712=)
c.5139A>C (p.Val1713=)
c.5013A>C (p.Val1671=)
c.5133A>C (p.Val1711=)
c.5061A>C (p.Val1687=)
c.1827A>C (p.Val609=)
c.1689A>C (p.Val563=)
c.4251A>C (p.Val1417=)
c.5016A>C (p.Val1672=)
c.5205A>C (p.Val1735=)
c.4998A>C (p.Val1666=)
c.1701A>C (p.Val567=)
c.5202A>C (p.Val1734=)
c.1526A>C
c.1713A>C (p.Val571=)
c.*4922A>C (n.*4922A>C)
c.1452A>C (p.Val484=)
c.69A>C (p.Val23=)
c.612A>C (p.Val204=)
c.-98-13697A>C (n.-98-13697A>C)
n.5275A>C
n.5316A>C
 ClinVar dbSNP
17g.43063887T=CA2260769502BRCA1c.5136A= (p.Val1712=)
c.5139A= (p.Val1713=)
c.5013A= (p.Val1671=)
c.5133A= (p.Val1711=)
c.5061A= (p.Val1687=)
c.1827A= (p.Val609=)
c.1689A= (p.Val563=)
c.4251A= (p.Val1417=)
c.5016A= (p.Val1672=)
c.5205A= (p.Val1735=)
c.4998A= (p.Val1666=)
c.1701A= (p.Val567=)
c.5202A= (p.Val1734=)
c.1526A=
c.1713A= (p.Val571=)
c.*4922A= (n.*4922A=)
c.1452A= (p.Val484=)
c.69A= (p.Val23=)
c.612A= (p.Val204=)
c.-98-13697A= (n.-98-13697A=)
n.5275A=
n.5316A=
17g.43063887_43063888delinsCCCA2573334971BRCA1c.5135_5136delinsGG (p.Val1712Gly)
c.5138_5139delinsGG (p.Val1713Gly)
c.5012_5013delinsGG (p.Val1671Gly)
c.5132_5133delinsGG (p.Val1711Gly)
c.5060_5061delinsGG (p.Val1687Gly)
c.1826_1827delinsGG (p.Val609Gly)
c.1688_1689delinsGG (p.Val563Gly)
c.4250_4251delinsGG (p.Val1417Gly)
c.5015_5016delinsGG (p.Val1672Gly)
c.5204_5205delinsGG (p.Val1735Gly)
c.4997_4998delinsGG (p.Val1666Gly)
c.1700_1701delinsGG (p.Val567Gly)
c.5201_5202delinsGG (p.Val1734Gly)
c.1525_1526delinsGG
c.1712_1713delinsGG (p.Val571Gly)
c.*4921_*4922delinsGG (n.*4921_*4922delinsGG)
c.1451_1452delinsGG (p.Val484Gly)
c.68_69delinsGG (p.Val23Gly)
c.611_612delinsGG (p.Val204Gly)
c.-98-13698_-98-13697delinsGG (n.-98-13698_-98-13697delinsGG)
n.5274_5275delinsGG
n.5315_5316delinsGG
 ClinVar
17g.43063887_43063888delinsTACA2260769503BRCA1c.5135_5136delinsTA (p.Val1712=)
c.5138_5139delinsTA (p.Val1713=)
c.5012_5013delinsTA (p.Val1671=)
c.5132_5133delinsTA (p.Val1711=)
c.5060_5061delinsTA (p.Val1687=)
c.1826_1827delinsTA (p.Val609=)
c.1688_1689delinsTA (p.Val563=)
c.4250_4251delinsTA (p.Val1417=)
c.5015_5016delinsTA (p.Val1672=)
c.5204_5205delinsTA (p.Val1735=)
c.4997_4998delinsTA (p.Val1666=)
c.1700_1701delinsTA (p.Val567=)
c.5201_5202delinsTA (p.Val1734=)
c.1525_1526delinsTA
c.1712_1713delinsTA (p.Val571=)
c.*4921_*4922delinsTA (n.*4921_*4922delinsTA)
c.1451_1452delinsTA (p.Val484=)
c.68_69delinsTA (p.Val23=)
c.611_612delinsTA (p.Val204=)
c.-98-13698_-98-13697delinsTA (n.-98-13698_-98-13697delinsTA)
n.5274_5275delinsTA
n.5315_5316delinsTA
17g.43063888delCA919844102BRCA1c.5135del (p.Val1712GlufsTer7)
c.5138del (p.Val1713GlufsTer7)
c.5012del (p.Val1671GlufsTer7)
c.5132del (p.Val1711GlufsTer7)
c.5060del (p.Val1687GlufsTer7)
c.1826del (p.Val609GlufsTer7)
c.1688del (p.Val563GlufsTer7)
c.4250del (p.Val1417GlufsTer7)
c.5015del (p.Val1672GlufsTer7)
c.5204del (p.Val1735GlufsTer7)
c.4997del (p.Val1666GlufsTer7)
c.1700del (p.Val567GlufsTer7)
c.5201del (p.Val1734GlufsTer7)
c.1525del
c.1712del (p.Val571GlufsTer7)
c.*4921del (n.*4921del)
c.1451del (p.Val484GlufsTer7)
c.68del (p.Val23GlufsTer7)
c.611del (p.Val204GlufsTer7)
c.-98-13698del (n.-98-13698del)
n.5274del
n.5315del
 dbSNP
17g.43063888A=CA2260769504BRCA1c.5135T= (p.Val1712=)
c.5138T= (p.Val1713=)
c.5012T= (p.Val1671=)
c.5132T= (p.Val1711=)
c.5060T= (p.Val1687=)
c.1826T= (p.Val609=)
c.1688T= (p.Val563=)
c.4250T= (p.Val1417=)
c.5015T= (p.Val1672=)
c.5204T= (p.Val1735=)
c.4997T= (p.Val1666=)
c.1700T= (p.Val567=)
c.5201T= (p.Val1734=)
c.1525T=
c.1712T= (p.Val571=)
c.*4921T= (n.*4921T=)
c.1451T= (p.Val484=)
c.68T= (p.Val23=)
c.611T= (p.Val204=)
c.-98-13698T= (n.-98-13698T=)
n.5274T=
n.5315T=
17g.43063888A>CCA10591264BRCA1c.5135T>G (p.Val1712Gly)
c.5138T>G (p.Val1713Gly)
c.5012T>G (p.Val1671Gly)
c.5132T>G (p.Val1711Gly)
c.5060T>G (p.Val1687Gly)
c.1826T>G (p.Val609Gly)
c.1688T>G (p.Val563Gly)
c.4250T>G (p.Val1417Gly)
c.5015T>G (p.Val1672Gly)
c.5204T>G (p.Val1735Gly)
c.4997T>G (p.Val1666Gly)
c.1700T>G (p.Val567Gly)
c.5201T>G (p.Val1734Gly)
c.1525T>G
c.1712T>G (p.Val571Gly)
c.*4921T>G (n.*4921T>G)
c.1451T>G (p.Val484Gly)
c.68T>G (p.Val23Gly)
c.611T>G (p.Val204Gly)
c.-98-13698T>G (n.-98-13698T>G)
n.5274T>G
n.5315T>G
 ClinVar dbSNP gnomAD v4
17g.43063888A>GCA003262BRCA1c.5135T>C (p.Val1712Ala)
c.5138T>C (p.Val1713Ala)
c.5012T>C (p.Val1671Ala)
c.5132T>C (p.Val1711Ala)
c.5060T>C (p.Val1687Ala)
c.1826T>C (p.Val609Ala)
c.1688T>C (p.Val563Ala)
c.4250T>C (p.Val1417Ala)
c.5015T>C (p.Val1672Ala)
c.5204T>C (p.Val1735Ala)
c.4997T>C (p.Val1666Ala)
c.1700T>C (p.Val567Ala)
c.5201T>C (p.Val1734Ala)
c.1525T>C
c.1712T>C (p.Val571Ala)
c.*4921T>C (n.*4921T>C)
c.1451T>C (p.Val484Ala)
c.68T>C (p.Val23Ala)
c.611T>C (p.Val204Ala)
c.-98-13698T>C (n.-98-13698T>C)
n.5274T>C
n.5315T>C
 ClinVar dbSNP
17g.43063888A>TCA10591265BRCA1c.5135T>A (p.Val1712Glu)
c.5138T>A (p.Val1713Glu)
c.5012T>A (p.Val1671Glu)
c.5132T>A (p.Val1711Glu)
c.5060T>A (p.Val1687Glu)
c.1826T>A (p.Val609Glu)
c.1688T>A (p.Val563Glu)
c.4250T>A (p.Val1417Glu)
c.5015T>A (p.Val1672Glu)
c.5204T>A (p.Val1735Glu)
c.4997T>A (p.Val1666Glu)
c.1700T>A (p.Val567Glu)
c.5201T>A (p.Val1734Glu)
c.1525T>A
c.1712T>A (p.Val571Glu)
c.*4921T>A (n.*4921T>A)
c.1451T>A (p.Val484Glu)
c.68T>A (p.Val23Glu)
c.611T>A (p.Val204Glu)
c.-98-13698T>A (n.-98-13698T>A)
n.5274T>A
n.5315T>A
 ClinVar dbSNP
17g.43063888_43063889delinsACCA2260769505BRCA1c.5134_5135delinsGT (p.Val1712=)
c.5137_5138delinsGT (p.Val1713=)
c.5011_5012delinsGT (p.Val1671=)
c.5131_5132delinsGT (p.Val1711=)
c.5059_5060delinsGT (p.Val1687=)
c.1825_1826delinsGT (p.Val609=)
c.1687_1688delinsGT (p.Val563=)
c.4249_4250delinsGT (p.Val1417=)
c.5014_5015delinsGT (p.Val1672=)
c.5203_5204delinsGT (p.Val1735=)
c.4996_4997delinsGT (p.Val1666=)
c.1699_1700delinsGT (p.Val567=)
c.5200_5201delinsGT (p.Val1734=)
c.1524_1525delinsGT
c.1711_1712delinsGT (p.Val571=)
c.*4920_*4921delinsGT (n.*4920_*4921delinsGT)
c.1450_1451delinsGT (p.Val484=)
c.67_68delinsGT (p.Val23=)
c.610_611delinsGT (p.Val204=)
c.-98-13699_-98-13698delinsGT (n.-98-13699_-98-13698delinsGT)
n.5273_5274delinsGT
n.5314_5315delinsGT
17g.43063889C>ACA10591266BRCA1c.5134G>T (p.Val1712Leu)
c.5137G>T (p.Val1713Leu)
c.5011G>T (p.Val1671Leu)
c.5131G>T (p.Val1711Leu)
c.5059G>T (p.Val1687Leu)
c.1825G>T (p.Val609Leu)
c.1687G>T (p.Val563Leu)
c.4249G>T (p.Val1417Leu)
c.5014G>T (p.Val1672Leu)
c.5203G>T (p.Val1735Leu)
c.4996G>T (p.Val1666Leu)
c.1699G>T (p.Val567Leu)
c.5200G>T (p.Val1734Leu)
c.1524G>T
c.1711G>T (p.Val571Leu)
c.*4920G>T (n.*4920G>T)
c.1450G>T (p.Val484Leu)
c.67G>T (p.Val23Leu)
c.610G>T (p.Val204Leu)
c.-98-13699G>T (n.-98-13699G>T)
n.5273G>T
n.5314G>T
 ClinVar dbSNP
17g.43063889C=CA2260769506BRCA1c.5134G= (p.Val1712=)
c.5137G= (p.Val1713=)
c.5011G= (p.Val1671=)
c.5131G= (p.Val1711=)
c.5059G= (p.Val1687=)
c.1825G= (p.Val609=)
c.1687G= (p.Val563=)
c.4249G= (p.Val1417=)
c.5014G= (p.Val1672=)
c.5203G= (p.Val1735=)
c.4996G= (p.Val1666=)
c.1699G= (p.Val567=)
c.5200G= (p.Val1734=)
c.1524G=
c.1711G= (p.Val571=)
c.*4920G= (n.*4920G=)
c.1450G= (p.Val484=)
c.67G= (p.Val23=)
c.610G= (p.Val204=)
c.-98-13699G= (n.-98-13699G=)
n.5273G=
n.5314G=
17g.43063889C>GCA10591267BRCA1c.5134G>C (p.Val1712Leu)
c.5137G>C (p.Val1713Leu)
c.5011G>C (p.Val1671Leu)
c.5131G>C (p.Val1711Leu)
c.5059G>C (p.Val1687Leu)
c.1825G>C (p.Val609Leu)
c.1687G>C (p.Val563Leu)
c.4249G>C (p.Val1417Leu)
c.5014G>C (p.Val1672Leu)
c.5203G>C (p.Val1735Leu)
c.4996G>C (p.Val1666Leu)
c.1699G>C (p.Val567Leu)
c.5200G>C (p.Val1734Leu)
c.1524G>C
c.1711G>C (p.Val571Leu)
c.*4920G>C (n.*4920G>C)
c.1450G>C (p.Val484Leu)
c.67G>C (p.Val23Leu)
c.610G>C (p.Val204Leu)
c.-98-13699G>C (n.-98-13699G>C)
n.5273G>C
n.5314G>C
 ClinVar dbSNP
17g.43063889C>TCA10591268BRCA1c.5134G>A (p.Val1712Ile)
c.5137G>A (p.Val1713Ile)
c.5011G>A (p.Val1671Ile)
c.5131G>A (p.Val1711Ile)
c.5059G>A (p.Val1687Ile)
c.1825G>A (p.Val609Ile)
c.1687G>A (p.Val563Ile)
c.4249G>A (p.Val1417Ile)
c.5014G>A (p.Val1672Ile)
c.5203G>A (p.Val1735Ile)
c.4996G>A (p.Val1666Ile)
c.1699G>A (p.Val567Ile)
c.5200G>A (p.Val1734Ile)
c.1524G>A
c.1711G>A (p.Val571Ile)
c.*4920G>A (n.*4920G>A)
c.1450G>A (p.Val484Ile)
c.67G>A (p.Val23Ile)
c.610G>A (p.Val204Ile)
c.-98-13699G>A (n.-98-13699G>A)
n.5273G>A
n.5314G>A
 ClinVar dbSNP
17g.43063891dupCA658798070BRCA1c.5134dup (p.Val1712GlyfsTer3)
c.5137dup (p.Val1713GlyfsTer3)
c.5011dup (p.Val1671GlyfsTer3)
c.5131dup (p.Val1711GlyfsTer3)
c.5059dup (p.Val1687GlyfsTer3)
c.1825dup (p.Val609GlyfsTer3)
c.1687dup (p.Val563GlyfsTer3)
c.4249dup (p.Val1417GlyfsTer3)
c.5014dup (p.Val1672GlyfsTer3)
c.5203dup (p.Val1735GlyfsTer3)
c.4996dup (p.Val1666GlyfsTer3)
c.1699dup (p.Val567GlyfsTer3)
c.5200dup (p.Val1734GlyfsTer3)
c.1524dup
c.1711dup (p.Val571GlyfsTer3)
c.*4920dup (n.*4920dup)
c.1450dup (p.Val484GlyfsTer3)
c.67dup (p.Val23GlyfsTer3)
c.610dup (p.Val204GlyfsTer3)
c.-98-13699dup (n.-98-13699dup)
n.5273dup
n.5314dup
 ClinVar dbSNP
17g.43063891delCA003261BRCA1c.5134del (p.Val1712Ter)
c.5137del (p.Val1713Ter)
c.5011del (p.Val1671Ter)
c.5131del (p.Val1711Ter)
c.5059del (p.Val1687Ter)
c.1825del (p.Val609Ter)
c.1687del (p.Val563Ter)
c.4249del (p.Val1417Ter)
c.5014del (p.Val1672Ter)
c.5203del (p.Val1735Ter)
c.4996del (p.Val1666Ter)
c.1699del (p.Val567Ter)
c.5200del (p.Val1734Ter)
c.1524del
c.1711del (p.Val571Ter)
c.*4920del (n.*4920del)
c.1450del (p.Val484Ter)
c.67del (p.Val23Ter)
c.610del (p.Val204Ter)
c.-98-13699del (n.-98-13699del)
n.5273del
n.5314del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43063890_43063898delCA2573054438BRCA1c.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
17g.43063892_43063902delCA2580093949BRCA1c.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
17g.43063890C>ACA10591269BRCA1c.5133G>T (p.Trp1711Cys)
c.5136G>T (p.Trp1712Cys)
c.5010G>T (p.Trp1670Cys)
c.5130G>T (p.Trp1710Cys)
c.5058G>T (p.Trp1686Cys)
c.1824G>T (p.Trp608Cys)
c.1686G>T (p.Trp562Cys)
c.4248G>T (p.Trp1416Cys)
c.5013G>T (p.Trp1671Cys)
c.5202G>T (p.Trp1734Cys)
c.4995G>T (p.Trp1665Cys)
c.1698G>T (p.Trp566Cys)
c.5199G>T (p.Trp1733Cys)
c.1523G>T
c.1710G>T (p.Trp570Cys)
c.*4919G>T (n.*4919G>T)
c.1449G>T (p.Trp483Cys)
c.66G>T (p.Trp22Cys)
c.609G>T (p.Trp203Cys)
c.-98-13700G>T (n.-98-13700G>T)
n.5272G>T
n.5313G>T
 ClinVar dbSNP
17g.43063890C=CA2260769507BRCA1c.5133G= (p.Trp1711=)
c.5136G= (p.Trp1712=)
c.5010G= (p.Trp1670=)
c.5130G= (p.Trp1710=)
c.5058G= (p.Trp1686=)
c.1824G= (p.Trp608=)
c.1686G= (p.Trp562=)
c.4248G= (p.Trp1416=)
c.5013G= (p.Trp1671=)
c.5202G= (p.Trp1734=)
c.4995G= (p.Trp1665=)
c.1698G= (p.Trp566=)
c.5199G= (p.Trp1733=)
c.1523G=
c.1710G= (p.Trp570=)
c.*4919G= (n.*4919G=)
c.1449G= (p.Trp483=)
c.66G= (p.Trp22=)
c.609G= (p.Trp203=)
c.-98-13700G= (n.-98-13700G=)
n.5272G=
n.5313G=
17g.43063890C>GCA10591270BRCA1c.5133G>C (p.Trp1711Cys)
c.5136G>C (p.Trp1712Cys)
c.5010G>C (p.Trp1670Cys)
c.5130G>C (p.Trp1710Cys)
c.5058G>C (p.Trp1686Cys)
c.1824G>C (p.Trp608Cys)
c.1686G>C (p.Trp562Cys)
c.4248G>C (p.Trp1416Cys)
c.5013G>C (p.Trp1671Cys)
c.5202G>C (p.Trp1734Cys)
c.4995G>C (p.Trp1665Cys)
c.1698G>C (p.Trp566Cys)
c.5199G>C (p.Trp1733Cys)
c.1523G>C
c.1710G>C (p.Trp570Cys)
c.*4919G>C (n.*4919G>C)
c.1449G>C (p.Trp483Cys)
c.66G>C (p.Trp22Cys)
c.609G>C (p.Trp203Cys)
c.-98-13700G>C (n.-98-13700G>C)
n.5272G>C
n.5313G>C
 ClinVar dbSNP
17g.43063890C>TCA003260BRCA1c.5133G>A (p.Trp1711Ter)
c.5136G>A (p.Trp1712Ter)
c.5010G>A (p.Trp1670Ter)
c.5130G>A (p.Trp1710Ter)
c.5058G>A (p.Trp1686Ter)
c.1824G>A (p.Trp608Ter)
c.1686G>A (p.Trp562Ter)
c.4248G>A (p.Trp1416Ter)
c.5013G>A (p.Trp1671Ter)
c.5202G>A (p.Trp1734Ter)
c.4995G>A (p.Trp1665Ter)
c.1698G>A (p.Trp566Ter)
c.5199G>A (p.Trp1733Ter)
c.1523G>A
c.1710G>A (p.Trp570Ter)
c.*4919G>A (n.*4919G>A)
c.1449G>A (p.Trp483Ter)
c.66G>A (p.Trp22Ter)
c.609G>A (p.Trp203Ter)
c.-98-13700G>A (n.-98-13700G>A)
n.5272G>A
n.5313G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43063891C>ACA10591271BRCA1c.5132G>T (p.Trp1711Leu)
c.5135G>T (p.Trp1712Leu)
c.5009G>T (p.Trp1670Leu)
c.5129G>T (p.Trp1710Leu)
c.5057G>T (p.Trp1686Leu)
c.1823G>T (p.Trp608Leu)
c.1685G>T (p.Trp562Leu)
c.4247G>T (p.Trp1416Leu)
c.5012G>T (p.Trp1671Leu)
c.5201G>T (p.Trp1734Leu)
c.4994G>T (p.Trp1665Leu)
c.1697G>T (p.Trp566Leu)
c.5198G>T (p.Trp1733Leu)
c.1522G>T
c.1709G>T (p.Trp570Leu)
c.*4918G>T (n.*4918G>T)
c.1448G>T (p.Trp483Leu)
c.65G>T (p.Trp22Leu)
c.608G>T (p.Trp203Leu)
c.-98-13701G>T (n.-98-13701G>T)
n.5271G>T
n.5312G>T
 ClinVar dbSNP
17g.43063891C=CA2260769508BRCA1c.5132G= (p.Trp1711=)
c.5135G= (p.Trp1712=)
c.5009G= (p.Trp1670=)
c.5129G= (p.Trp1710=)
c.5057G= (p.Trp1686=)
c.1823G= (p.Trp608=)
c.1685G= (p.Trp562=)
c.4247G= (p.Trp1416=)
c.5012G= (p.Trp1671=)
c.5201G= (p.Trp1734=)
c.4994G= (p.Trp1665=)
c.1697G= (p.Trp566=)
c.5198G= (p.Trp1733=)
c.1522G=
c.1709G= (p.Trp570=)
c.*4918G= (n.*4918G=)
c.1448G= (p.Trp483=)
c.65G= (p.Trp22=)
c.608G= (p.Trp203=)
c.-98-13701G= (n.-98-13701G=)
n.5271G=
n.5312G=
17g.43063891C>GCA10591272BRCA1c.5132G>C (p.Trp1711Ser)
c.5135G>C (p.Trp1712Ser)
c.5009G>C (p.Trp1670Ser)
c.5129G>C (p.Trp1710Ser)
c.5057G>C (p.Trp1686Ser)
c.1823G>C (p.Trp608Ser)
c.1685G>C (p.Trp562Ser)
c.4247G>C (p.Trp1416Ser)
c.5012G>C (p.Trp1671Ser)
c.5201G>C (p.Trp1734Ser)
c.4994G>C (p.Trp1665Ser)
c.1697G>C (p.Trp566Ser)
c.5198G>C (p.Trp1733Ser)
c.1522G>C
c.1709G>C (p.Trp570Ser)
c.*4918G>C (n.*4918G>C)
c.1448G>C (p.Trp483Ser)
c.65G>C (p.Trp22Ser)
c.608G>C (p.Trp203Ser)
c.-98-13701G>C (n.-98-13701G>C)
n.5271G>C
n.5312G>C
 ClinVar dbSNP
17g.43063891C>TCA10580498BRCA1c.5132G>A (p.Trp1711Ter)
c.5135G>A (p.Trp1712Ter)
c.5009G>A (p.Trp1670Ter)
c.5129G>A (p.Trp1710Ter)
c.5057G>A (p.Trp1686Ter)
c.1823G>A (p.Trp608Ter)
c.1685G>A (p.Trp562Ter)
c.4247G>A (p.Trp1416Ter)
c.5012G>A (p.Trp1671Ter)
c.5201G>A (p.Trp1734Ter)
c.4994G>A (p.Trp1665Ter)
c.1697G>A (p.Trp566Ter)
c.5198G>A (p.Trp1733Ter)
c.1522G>A
c.1709G>A (p.Trp570Ter)
c.*4918G>A (n.*4918G>A)
c.1448G>A (p.Trp483Ter)
c.65G>A (p.Trp22Ter)
c.608G>A (p.Trp203Ter)
c.-98-13701G>A (n.-98-13701G>A)
n.5271G>A
n.5312G>A
 ClinVar dbSNP
17g.43063892A=CA2260769510BRCA1c.5131T= (p.Trp1711=)
c.5134T= (p.Trp1712=)
c.5008T= (p.Trp1670=)
c.5128T= (p.Trp1710=)
c.5056T= (p.Trp1686=)
c.1822T= (p.Trp608=)
c.1684T= (p.Trp562=)
c.4246T= (p.Trp1416=)
c.5011T= (p.Trp1671=)
c.5200T= (p.Trp1734=)
c.4993T= (p.Trp1665=)
c.1696T= (p.Trp566=)
c.5197T= (p.Trp1733=)
c.1521T=
c.1708T= (p.Trp570=)
c.*4917T= (n.*4917T=)
c.1447T= (p.Trp483=)
c.64T= (p.Trp22=)
c.607T= (p.Trp203=)
c.-98-13702T= (n.-98-13702T=)
n.5270T=
n.5311T=
17g.43063892A>CCA10591273BRCA1c.5131T>G (p.Trp1711Gly)
c.5134T>G (p.Trp1712Gly)
c.5008T>G (p.Trp1670Gly)
c.5128T>G (p.Trp1710Gly)
c.5056T>G (p.Trp1686Gly)
c.1822T>G (p.Trp608Gly)
c.1684T>G (p.Trp562Gly)
c.4246T>G (p.Trp1416Gly)
c.5011T>G (p.Trp1671Gly)
c.5200T>G (p.Trp1734Gly)
c.4993T>G (p.Trp1665Gly)
c.1696T>G (p.Trp566Gly)
c.5197T>G (p.Trp1733Gly)
c.1521T>G
c.1708T>G (p.Trp570Gly)
c.*4917T>G (n.*4917T>G)
c.1447T>G (p.Trp483Gly)
c.64T>G (p.Trp22Gly)
c.607T>G (p.Trp203Gly)
c.-98-13702T>G (n.-98-13702T>G)
n.5270T>G
n.5311T>G
 ClinVar dbSNP
17g.43063892A>GCA10591274BRCA1c.5131T>C (p.Trp1711Arg)
c.5134T>C (p.Trp1712Arg)
c.5008T>C (p.Trp1670Arg)
c.5128T>C (p.Trp1710Arg)
c.5056T>C (p.Trp1686Arg)
c.1822T>C (p.Trp608Arg)
c.1684T>C (p.Trp562Arg)
c.4246T>C (p.Trp1416Arg)
c.5011T>C (p.Trp1671Arg)
c.5200T>C (p.Trp1734Arg)
c.4993T>C (p.Trp1665Arg)
c.1696T>C (p.Trp566Arg)
c.5197T>C (p.Trp1733Arg)
c.1521T>C
c.1708T>C (p.Trp570Arg)
c.*4917T>C (n.*4917T>C)
c.1447T>C (p.Trp483Arg)
c.64T>C (p.Trp22Arg)
c.607T>C (p.Trp203Arg)
c.-98-13702T>C (n.-98-13702T>C)
n.5270T>C
n.5311T>C
 ClinVar dbSNP
17g.43063892A>TCA10591275BRCA1c.5131T>A (p.Trp1711Arg)
c.5134T>A (p.Trp1712Arg)
c.5008T>A (p.Trp1670Arg)
c.5128T>A (p.Trp1710Arg)
c.5056T>A (p.Trp1686Arg)
c.1822T>A (p.Trp608Arg)
c.1684T>A (p.Trp562Arg)
c.4246T>A (p.Trp1416Arg)
c.5011T>A (p.Trp1671Arg)
c.5200T>A (p.Trp1734Arg)
c.4993T>A (p.Trp1665Arg)
c.1696T>A (p.Trp566Arg)
c.5197T>A (p.Trp1733Arg)
c.1521T>A
c.1708T>A (p.Trp570Arg)
c.*4917T>A (n.*4917T>A)
c.1447T>A (p.Trp483Arg)
c.64T>A (p.Trp22Arg)
c.607T>A (p.Trp203Arg)
c.-98-13702T>A (n.-98-13702T>A)
n.5270T>A
n.5311T>A
 ClinVar dbSNP
17g.43063892_43063893delinsATCA2260769509BRCA1c.5130_5131delinsAT (p.Lys1710=)
c.5133_5134delinsAT (p.Lys1711=)
c.5007_5008delinsAT (p.Lys1669=)
c.5127_5128delinsAT (p.Lys1709=)
c.5055_5056delinsAT (p.Lys1685=)
c.1821_1822delinsAT (p.Lys607=)
c.1683_1684delinsAT (p.Lys561=)
c.4245_4246delinsAT (p.Lys1415=)
c.5010_5011delinsAT (p.Lys1670=)
c.5199_5200delinsAT (p.Lys1733=)
c.4992_4993delinsAT (p.Lys1664=)
c.1695_1696delinsAT (p.Lys565=)
c.5196_5197delinsAT (p.Lys1732=)
c.1520_1521delinsAT
c.1707_1708delinsAT (p.Lys569=)
c.*4916_*4917delinsAT (n.*4916_*4917delinsAT)
c.1446_1447delinsAT (p.Lys482=)
c.63_64delinsAT (p.Lys21=)
c.606_607delinsAT (p.Lys202=)
c.-98-13703_-98-13702delinsAT (n.-98-13703_-98-13702delinsAT)
n.5269_5270delinsAT
n.5310_5311delinsAT
17g.43063893T>ACA10591276BRCA1c.5130A>T (p.Lys1710Asn)
c.5133A>T (p.Lys1711Asn)
c.5007A>T (p.Lys1669Asn)
c.5127A>T (p.Lys1709Asn)
c.5055A>T (p.Lys1685Asn)
c.1821A>T (p.Lys607Asn)
c.1683A>T (p.Lys561Asn)
c.4245A>T (p.Lys1415Asn)
c.5010A>T (p.Lys1670Asn)
c.5199A>T (p.Lys1733Asn)
c.4992A>T (p.Lys1664Asn)
c.1695A>T (p.Lys565Asn)
c.5196A>T (p.Lys1732Asn)
c.1520A>T
c.1707A>T (p.Lys569Asn)
c.*4916A>T (n.*4916A>T)
c.1446A>T (p.Lys482Asn)
c.63A>T (p.Lys21Asn)
c.606A>T (p.Lys202Asn)
c.-98-13703A>T (n.-98-13703A>T)
n.5269A>T
n.5310A>T
 ClinVar dbSNP
17g.43063893T>CCA500146157BRCA1c.5130A>G (p.Lys1710=)
c.5133A>G (p.Lys1711=)
c.5007A>G (p.Lys1669=)
c.5127A>G (p.Lys1709=)
c.5055A>G (p.Lys1685=)
c.1821A>G (p.Lys607=)
c.1683A>G (p.Lys561=)
c.4245A>G (p.Lys1415=)
c.5010A>G (p.Lys1670=)
c.5199A>G (p.Lys1733=)
c.4992A>G (p.Lys1664=)
c.1695A>G (p.Lys565=)
c.5196A>G (p.Lys1732=)
c.1520A>G
c.1707A>G (p.Lys569=)
c.*4916A>G (n.*4916A>G)
c.1446A>G (p.Lys482=)
c.63A>G (p.Lys21=)
c.606A>G (p.Lys202=)
c.-98-13703A>G (n.-98-13703A>G)
n.5269A>G
n.5310A>G
 ClinVar dbSNP
17g.43063893T>GCA10591277BRCA1c.5130A>C (p.Lys1710Asn)
c.5133A>C (p.Lys1711Asn)
c.5007A>C (p.Lys1669Asn)
c.5127A>C (p.Lys1709Asn)
c.5055A>C (p.Lys1685Asn)
c.1821A>C (p.Lys607Asn)
c.1683A>C (p.Lys561Asn)
c.4245A>C (p.Lys1415Asn)
c.5010A>C (p.Lys1670Asn)
c.5199A>C (p.Lys1733Asn)
c.4992A>C (p.Lys1664Asn)
c.1695A>C (p.Lys565Asn)
c.5196A>C (p.Lys1732Asn)
c.1520A>C
c.1707A>C (p.Lys569Asn)
c.*4916A>C (n.*4916A>C)
c.1446A>C (p.Lys482Asn)
c.63A>C (p.Lys21Asn)
c.606A>C (p.Lys202Asn)
c.-98-13703A>C (n.-98-13703A>C)
n.5269A>C
n.5310A>C
 ClinVar dbSNP
17g.43063893T=CA2260769511BRCA1c.5130A= (p.Lys1710=)
c.5133A= (p.Lys1711=)
c.5007A= (p.Lys1669=)
c.5127A= (p.Lys1709=)
c.5055A= (p.Lys1685=)
c.1821A= (p.Lys607=)
c.1683A= (p.Lys561=)
c.4245A= (p.Lys1415=)
c.5010A= (p.Lys1670=)
c.5199A= (p.Lys1733=)
c.4992A= (p.Lys1664=)
c.1695A= (p.Lys565=)
c.5196A= (p.Lys1732=)
c.1520A=
c.1707A= (p.Lys569=)
c.*4916A= (n.*4916A=)
c.1446A= (p.Lys482=)
c.63A= (p.Lys21=)
c.606A= (p.Lys202=)
c.-98-13703A= (n.-98-13703A=)
n.5269A=
n.5310A=
17g.43063896dupCA10586603BRCA1c.5130dup (p.Trp1711MetfsTer4)
c.5133dup (p.Trp1712MetfsTer4)
c.5007dup (p.Trp1670MetfsTer4)
c.5127dup (p.Trp1710MetfsTer4)
c.5055dup (p.Trp1686MetfsTer4)
c.1821dup (p.Trp608MetfsTer4)
c.1683dup (p.Trp562MetfsTer4)
c.4245dup (p.Trp1416MetfsTer4)
c.5010dup (p.Trp1671MetfsTer4)
c.5199dup (p.Trp1734MetfsTer4)
c.4992dup (p.Trp1665MetfsTer4)
c.1695dup (p.Trp566MetfsTer4)
c.5196dup (p.Trp1733MetfsTer4)
c.1520dup
c.1707dup (p.Trp570MetfsTer4)
c.*4916dup (n.*4916dup)
c.1446dup (p.Trp483MetfsTer4)
c.63dup (p.Trp22MetfsTer4)
c.606dup (p.Trp203MetfsTer4)
c.-98-13703dup (n.-98-13703dup)
n.5269dup
n.5310dup
 ClinVar dbSNP
17g.43063896delCA003259BRCA1c.5130del (p.Lys1710AsnfsTer3)
c.5133del (p.Lys1711AsnfsTer3)
c.5007del (p.Lys1669AsnfsTer3)
c.5127del (p.Lys1709AsnfsTer3)
c.5055del (p.Lys1685AsnfsTer3)
c.1821del (p.Lys607AsnfsTer3)
c.1683del (p.Lys561AsnfsTer3)
c.4245del (p.Lys1415AsnfsTer3)
c.5010del (p.Lys1670AsnfsTer3)
c.5199del (p.Lys1733AsnfsTer3)
c.4992del (p.Lys1664AsnfsTer3)
c.1695del (p.Lys565AsnfsTer3)
c.5196del (p.Lys1732AsnfsTer3)
c.1520del
c.1707del (p.Lys569AsnfsTer3)
c.*4916del (n.*4916del)
c.1446del (p.Lys482AsnfsTer3)
c.63del (p.Lys21AsnfsTer3)
c.606del (p.Lys202AsnfsTer3)
c.-98-13703del (n.-98-13703del)
n.5269del
n.5310del
 ClinVar dbSNP gnomAD v4
17g.43063894T>ACA10591278BRCA1c.5129A>T (p.Lys1710Ile)
c.5132A>T (p.Lys1711Ile)
c.5006A>T (p.Lys1669Ile)
c.5126A>T (p.Lys1709Ile)
c.5054A>T (p.Lys1685Ile)
c.1820A>T (p.Lys607Ile)
c.1682A>T (p.Lys561Ile)
c.4244A>T (p.Lys1415Ile)
c.5009A>T (p.Lys1670Ile)
c.5198A>T (p.Lys1733Ile)
c.4991A>T (p.Lys1664Ile)
c.1694A>T (p.Lys565Ile)
c.5195A>T (p.Lys1732Ile)
c.1519A>T
c.1706A>T (p.Lys569Ile)
c.*4915A>T (n.*4915A>T)
c.1445A>T (p.Lys482Ile)
c.62A>T (p.Lys21Ile)
c.605A>T (p.Lys202Ile)
c.-98-13704A>T (n.-98-13704A>T)
n.5268A>T
n.5309A>T
 ClinVar dbSNP
17g.43063894T>CCA10591279BRCA1c.5129A>G (p.Lys1710Arg)
c.5132A>G (p.Lys1711Arg)
c.5006A>G (p.Lys1669Arg)
c.5126A>G (p.Lys1709Arg)
c.5054A>G (p.Lys1685Arg)
c.1820A>G (p.Lys607Arg)
c.1682A>G (p.Lys561Arg)
c.4244A>G (p.Lys1415Arg)
c.5009A>G (p.Lys1670Arg)
c.5198A>G (p.Lys1733Arg)
c.4991A>G (p.Lys1664Arg)
c.1694A>G (p.Lys565Arg)
c.5195A>G (p.Lys1732Arg)
c.1519A>G
c.1706A>G (p.Lys569Arg)
c.*4915A>G (n.*4915A>G)
c.1445A>G (p.Lys482Arg)
c.62A>G (p.Lys21Arg)
c.605A>G (p.Lys202Arg)
c.-98-13704A>G (n.-98-13704A>G)
n.5268A>G
n.5309A>G
 ClinVar dbSNP COSMIC COSMIC
17g.43063894T>GCA10591280BRCA1c.5129A>C (p.Lys1710Thr)
c.5132A>C (p.Lys1711Thr)
c.5006A>C (p.Lys1669Thr)
c.5126A>C (p.Lys1709Thr)
c.5054A>C (p.Lys1685Thr)
c.1820A>C (p.Lys607Thr)
c.1682A>C (p.Lys561Thr)
c.4244A>C (p.Lys1415Thr)
c.5009A>C (p.Lys1670Thr)
c.5198A>C (p.Lys1733Thr)
c.4991A>C (p.Lys1664Thr)
c.1694A>C (p.Lys565Thr)
c.5195A>C (p.Lys1732Thr)
c.1519A>C
c.1706A>C (p.Lys569Thr)
c.*4915A>C (n.*4915A>C)
c.1445A>C (p.Lys482Thr)
c.62A>C (p.Lys21Thr)
c.605A>C (p.Lys202Thr)
c.-98-13704A>C (n.-98-13704A>C)
n.5268A>C
n.5309A>C
 ClinVar dbSNP
17g.43063894T=CA2260769512BRCA1c.5129A= (p.Lys1710=)
c.5132A= (p.Lys1711=)
c.5006A= (p.Lys1669=)
c.5126A= (p.Lys1709=)
c.5054A= (p.Lys1685=)
c.1820A= (p.Lys607=)
c.1682A= (p.Lys561=)
c.4244A= (p.Lys1415=)
c.5009A= (p.Lys1670=)
c.5198A= (p.Lys1733=)
c.4991A= (p.Lys1664=)
c.1694A= (p.Lys565=)
c.5195A= (p.Lys1732=)
c.1519A=
c.1706A= (p.Lys569=)
c.*4915A= (n.*4915A=)
c.1445A= (p.Lys482=)
c.62A= (p.Lys21=)
c.605A= (p.Lys202=)
c.-98-13704A= (n.-98-13704A=)
n.5268A=
n.5309A=
17g.43063895T>ACA10589617BRCA1c.5128A>T (p.Lys1710Ter)
c.5131A>T (p.Lys1711Ter)
c.5005A>T (p.Lys1669Ter)
c.5125A>T (p.Lys1709Ter)
c.5053A>T (p.Lys1685Ter)
c.1819A>T (p.Lys607Ter)
c.1681A>T (p.Lys561Ter)
c.4243A>T (p.Lys1415Ter)
c.5008A>T (p.Lys1670Ter)
c.5197A>T (p.Lys1733Ter)
c.4990A>T (p.Lys1664Ter)
c.1693A>T (p.Lys565Ter)
c.5194A>T (p.Lys1732Ter)
c.1518A>T
c.1705A>T (p.Lys569Ter)
c.*4914A>T (n.*4914A>T)
c.1444A>T (p.Lys482Ter)
c.61A>T (p.Lys21Ter)
c.604A>T (p.Lys202Ter)
c.-98-13705A>T (n.-98-13705A>T)
n.5267A>T
n.5308A>T
 ClinVar dbSNP
17g.43063895T>CCA10591281BRCA1c.5128A>G (p.Lys1710Glu)
c.5131A>G (p.Lys1711Glu)
c.5005A>G (p.Lys1669Glu)
c.5125A>G (p.Lys1709Glu)
c.5053A>G (p.Lys1685Glu)
c.1819A>G (p.Lys607Glu)
c.1681A>G (p.Lys561Glu)
c.4243A>G (p.Lys1415Glu)
c.5008A>G (p.Lys1670Glu)
c.5197A>G (p.Lys1733Glu)
c.4990A>G (p.Lys1664Glu)
c.1693A>G (p.Lys565Glu)
c.5194A>G (p.Lys1732Glu)
c.1518A>G
c.1705A>G (p.Lys569Glu)
c.*4914A>G (n.*4914A>G)
c.1444A>G (p.Lys482Glu)
c.61A>G (p.Lys21Glu)
c.604A>G (p.Lys202Glu)
c.-98-13705A>G (n.-98-13705A>G)
n.5267A>G
n.5308A>G
 ClinVar dbSNP
17g.43063895T>GCA10591282BRCA1c.5128A>C (p.Lys1710Gln)
c.5131A>C (p.Lys1711Gln)
c.5005A>C (p.Lys1669Gln)
c.5125A>C (p.Lys1709Gln)
c.5053A>C (p.Lys1685Gln)
c.1819A>C (p.Lys607Gln)
c.1681A>C (p.Lys561Gln)
c.4243A>C (p.Lys1415Gln)
c.5008A>C (p.Lys1670Gln)
c.5197A>C (p.Lys1733Gln)
c.4990A>C (p.Lys1664Gln)
c.1693A>C (p.Lys565Gln)
c.5194A>C (p.Lys1732Gln)
c.1518A>C
c.1705A>C (p.Lys569Gln)
c.*4914A>C (n.*4914A>C)
c.1444A>C (p.Lys482Gln)
c.61A>C (p.Lys21Gln)
c.604A>C (p.Lys202Gln)
c.-98-13705A>C (n.-98-13705A>C)
n.5267A>C
n.5308A>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43063895T=CA2260769513BRCA1c.5128A= (p.Lys1710=)
c.5131A= (p.Lys1711=)
c.5005A= (p.Lys1669=)
c.5125A= (p.Lys1709=)
c.5053A= (p.Lys1685=)
c.1819A= (p.Lys607=)
c.1681A= (p.Lys561=)
c.4243A= (p.Lys1415=)
c.5008A= (p.Lys1670=)
c.5197A= (p.Lys1733=)
c.4990A= (p.Lys1664=)
c.1693A= (p.Lys565=)
c.5194A= (p.Lys1732=)
c.1518A=
c.1705A= (p.Lys569=)
c.*4914A= (n.*4914A=)
c.1444A= (p.Lys482=)
c.61A= (p.Lys21=)
c.604A= (p.Lys202=)
c.-98-13705A= (n.-98-13705A=)
n.5267A=
n.5308A=
17g.43063895_43063896insCCA2580093950BRCA1c.5127_5128insG (p.Lys1710GlufsTer5)
c.5130_5131insG (p.Lys1711GlufsTer5)
c.5004_5005insG (p.Lys1669GlufsTer5)
c.5124_5125insG (p.Lys1709GlufsTer5)
c.5052_5053insG (p.Lys1685GlufsTer5)
c.1818_1819insG (p.Lys607GlufsTer5)
c.1680_1681insG (p.Lys561GlufsTer5)
c.4242_4243insG (p.Lys1415GlufsTer5)
c.5007_5008insG (p.Lys1670GlufsTer5)
c.5196_5197insG (p.Lys1733GlufsTer5)
c.4989_4990insG (p.Lys1664GlufsTer5)
c.1692_1693insG (p.Lys565GlufsTer5)
c.5193_5194insG (p.Lys1732GlufsTer5)
c.1517_1518insG
c.1704_1705insG (p.Lys569GlufsTer5)
c.*4913_*4914insG (n.*4913_*4914insG)
c.1443_1444insG (p.Lys482GlufsTer5)
c.60_61insG (p.Lys21GlufsTer5)
c.603_604insG (p.Lys202GlufsTer5)
c.-98-13706_-98-13705insG (n.-98-13706_-98-13705insG)
n.5266_5267insG
n.5307_5308insG
 ClinVar
17g.43063896T>ACA500146162BRCA1c.5127A>T (p.Gly1709=)
c.5130A>T (p.Gly1710=)
c.5004A>T (p.Gly1668=)
c.5124A>T (p.Gly1708=)
c.5052A>T (p.Gly1684=)
c.1818A>T (p.Gly606=)
c.1680A>T (p.Gly560=)
c.4242A>T (p.Gly1414=)
c.5007A>T (p.Gly1669=)
c.5196A>T (p.Gly1732=)
c.4989A>T (p.Gly1663=)
c.1692A>T (p.Gly564=)
c.5193A>T (p.Gly1731=)
c.1517A>T
c.1704A>T (p.Gly568=)
c.*4913A>T (n.*4913A>T)
c.1443A>T (p.Gly481=)
c.60A>T (p.Gly20=)
c.603A>T (p.Gly201=)
c.-98-13706A>T (n.-98-13706A>T)
n.5266A>T
n.5307A>T
 ClinVar dbSNP
17g.43063896T>CCA500146167BRCA1c.5127A>G (p.Gly1709=)
c.5130A>G (p.Gly1710=)
c.5004A>G (p.Gly1668=)
c.5124A>G (p.Gly1708=)
c.5052A>G (p.Gly1684=)
c.1818A>G (p.Gly606=)
c.1680A>G (p.Gly560=)
c.4242A>G (p.Gly1414=)
c.5007A>G (p.Gly1669=)
c.5196A>G (p.Gly1732=)
c.4989A>G (p.Gly1663=)
c.1692A>G (p.Gly564=)
c.5193A>G (p.Gly1731=)
c.1517A>G
c.1704A>G (p.Gly568=)
c.*4913A>G (n.*4913A>G)
c.1443A>G (p.Gly481=)
c.60A>G (p.Gly20=)
c.603A>G (p.Gly201=)
c.-98-13706A>G (n.-98-13706A>G)
n.5266A>G
n.5307A>G
 ClinVar dbSNP
17g.43063896T>GCA500146164BRCA1c.5127A>C (p.Gly1709=)
c.5130A>C (p.Gly1710=)
c.5004A>C (p.Gly1668=)
c.5124A>C (p.Gly1708=)
c.5052A>C (p.Gly1684=)
c.1818A>C (p.Gly606=)
c.1680A>C (p.Gly560=)
c.4242A>C (p.Gly1414=)
c.5007A>C (p.Gly1669=)
c.5196A>C (p.Gly1732=)
c.4989A>C (p.Gly1663=)
c.1692A>C (p.Gly564=)
c.5193A>C (p.Gly1731=)
c.1517A>C
c.1704A>C (p.Gly568=)
c.*4913A>C (n.*4913A>C)
c.1443A>C (p.Gly481=)
c.60A>C (p.Gly20=)
c.603A>C (p.Gly201=)
c.-98-13706A>C (n.-98-13706A>C)
n.5266A>C
n.5307A>C
 ClinVar dbSNP
17g.43063896T=CA2260769515BRCA1c.5127A= (p.Gly1709=)
c.5130A= (p.Gly1710=)
c.5004A= (p.Gly1668=)
c.5124A= (p.Gly1708=)
c.5052A= (p.Gly1684=)
c.1818A= (p.Gly606=)
c.1680A= (p.Gly560=)
c.4242A= (p.Gly1414=)
c.5007A= (p.Gly1669=)
c.5196A= (p.Gly1732=)
c.4989A= (p.Gly1663=)
c.1692A= (p.Gly564=)
c.5193A= (p.Gly1731=)
c.1517A=
c.1704A= (p.Gly568=)
c.*4913A= (n.*4913A=)
c.1443A= (p.Gly481=)
c.60A= (p.Gly20=)
c.603A= (p.Gly201=)
c.-98-13706A= (n.-98-13706A=)
n.5266A=
n.5307A=
17g.43063896_43063897delinsTCCA2260769514BRCA1c.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
17g.43063899_43063901delCA2695226123BRCA1c.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
17g.43063897C>ACA10591283BRCA1c.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
17g.43063897C=CA2260769516BRCA1c.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=
17g.43063897C>GCA10591284BRCA1c.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
17g.43063897C>TCA003258BRCA1c.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
17g.43063898delCA500146168BRCA1c.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
17g.43063898C>ACA003256BRCA1c.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
17g.43063898C=CA2260769517BRCA1c.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=
17g.43063898C>GCA10591285BRCA1c.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
17g.43063898C>TCA053953BRCA1c.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
17g.43063898_43063899delinsCTCA2260769518BRCA1c.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
17g.43063899delCA919844104BRCA1c.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
17g.43063899T>ACA500146172BRCA1c.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
17g.43063899T>CCA500146173BRCA1c.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
17g.43063899T>GCA500146174BRCA1c.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
17g.43063899T=CA2260769519BRCA1c.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=
17g.43063899_43063900delinsTCCA2260769520BRCA1c.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
17g.43063900C>ACA10591286BRCA1c.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
17g.43063900C=CA2260769521BRCA1c.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=
17g.43063900C>GCA10591287BRCA1c.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
17g.43063900C>TCA003255BRCA1c.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
17g.43063902delCA003254BRCA1c.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
17g.43063901C>ACA10591288BRCA1c.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
17g.43063901C=CA2260769522BRCA1c.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=
17g.43063901C>GCA10591289BRCA1c.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
17g.43063901C>TCA10586677BRCA1c.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
17g.43063902C>ACA500146177BRCA1c.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
17g.43063902C=CA2260769523BRCA1c.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=
17g.43063902C>GCA500146178BRCA1c.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
17g.43063902C>TCA16607606BRCA1c.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
17g.43063902_43063903delinsCGCA2260769524BRCA1c.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
17g.43063903delCA10586604BRCA1c.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
17g.43063903G>ACA003253BRCA1c.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
17g.43063903G>CCA10591290BRCA1c.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
17g.43063903G=CA2260769525BRCA1c.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=
17g.43063903G>TCA003252BRCA1c.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
17g.43063904C>ACA10591291BRCA1c.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
17g.43063904C=CA2260769527BRCA1c.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=
17g.43063904C>GCA10591292BRCA1c.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
17g.43063904C>TCA003251BRCA1c.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
17g.43063904_43063912delinsCAATTCCTACA2260769526BRCA1c.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
17g.43063905A=CA2260769528BRCA1c.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=
17g.43063905A>CCA10591293BRCA1c.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
17g.43063905A>GCA500146183BRCA1c.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
17g.43063905A>TCA500146184BRCA1c.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
17g.43063905_43063912delCA10589618BRCA1c.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
17g.43063905_43063913delinsTCA2580093951BRCA1c.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
17g.43063906A=CA2260769529BRCA1c.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=
17g.43063906A>CCA10591294BRCA1c.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
17g.43063906A>GCA10591295BRCA1c.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
17g.43063906A>TCA10591296BRCA1c.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
17g.43063907T>ACA10591297BRCA1c.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
17g.43063907T>CCA10591298BRCA1c.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
17g.43063907T>GCA10591299BRCA1c.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
17g.43063907T=CA2260769530BRCA1c.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=
17g.43063908T>ACA500146186BRCA1c.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
17g.43063908T>CCA500146188BRCA1c.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
17g.43063908T>GCA500146187BRCA1c.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
17g.43063908T=CA2260769531BRCA1c.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=
17g.43063909C>ACA10591300BRCA1c.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
17g.43063909C=CA2260769532BRCA1c.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=
17g.43063909C>GCA003250BRCA1c.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
17g.43063909C>TCA003249BRCA1c.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
17g.43063910delCA2580093952BRCA1c.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
17g.43063910C>ACA10591301BRCA1c.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
17g.43063910C=CA2260769533BRCA1c.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=
17g.43063910C>GCA501117BRCA1c.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
17g.43063910C>TCA10590060BRCA1c.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
17g.43063911T>ACA500146194BRCA1c.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
17g.43063911T>CCA500146193BRCA1c.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
17g.43063911T>GCA053919BRCA1c.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
17g.43063911T=CA2260769534BRCA1c.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=
17g.43063912A=CA2260769535BRCA1c.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=
17g.43063912A>CCA10583550BRCA1c.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
17g.43063912A>GCA003248BRCA1c.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
17g.43063912A>TCA10591302BRCA1c.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
17g.43063913_43063914delCA2499224380BRCA1c.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
17g.43063913G>ACA003247BRCA1c.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
17g.43063913G>CCA003246BRCA1c.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
17g.43063913G=CA2260769536BRCA1c.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=
17g.43063913G>TCA10591303BRCA1c.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
17g.43063913_43063914delinsGACA2260769537BRCA1c.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
17g.43063914A=CA2260769538BRCA1c.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=
17g.43063914A>CCA10591304BRCA1c.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
17g.43063914A>GCA500146201BRCA1c.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
17g.43063914A>TCA10591305BRCA1c.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
17g.43063917delCA003245BRCA1c.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
17g.43063915A=CA2260769539BRCA1c.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=
17g.43063915A>CCA10591306BRCA1c.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
17g.43063915A>GCA10591307BRCA1c.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
17g.43063915A>TCA10591308BRCA1c.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
17g.43063916A=CA2260769540BRCA1c.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=
17g.43063916A>CCA10591309BRCA1c.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
17g.43063916A>GCA10591310BRCA1c.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
17g.43063916A>TCA10591311BRCA1c.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
17g.43063917A=CA2260769541BRCA1c.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=
17g.43063917A>CCA003244BRCA1c.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
17g.43063917A>GCA10583551BRCA1c.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
17g.43063917A>TCA10591312BRCA1c.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
17g.43063918T>ACA10591313BRCA1c.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
17g.43063918T>CCA10580499BRCA1c.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
17g.43063918T>GCA10591314BRCA1c.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
17g.43063918T=CA2260769542BRCA1c.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=
17g.43063919A=CA2260769543BRCA1c.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=
17g.43063919A>CCA10586112BRCA1c.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
17g.43063919A>GCA337043BRCA1c.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
17g.43063919A>TCA10591315BRCA1c.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
17g.43063919_43063920delinsATCA2260769544BRCA1c.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
17g.43063920T>ACA10591316BRCA1c.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
17g.43063920T>CCA16615748BRCA1c.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
17g.43063920T>GCA10591317BRCA1c.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
17g.43063920T=CA2260769545BRCA1c.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=
17g.43063922delCA003243BRCA1c.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
17g.43063921T>ACA10591318BRCA1c.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
17g.43063921T>CCA10591319BRCA1c.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
17g.43063921T>GCA10591320BRCA1c.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
17g.43063921T=CA2260769546BRCA1c.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=
17g.43063922T>ACA10591321BRCA1c.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
17g.43063922T>CCA10591322BRCA1c.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
17g.43063922T>GCA10591323BRCA1c.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
17g.43063922T=CA2260769548BRCA1c.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=
17g.43063922_43063924delinsTCACA2260769547BRCA1c.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
17g.43063923C>ACA500146203BRCA1c.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
17g.43063923C=CA2260769549BRCA1c.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=
17g.43063923C>GCA500146204BRCA1c.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
17g.43063923C>TCA16615656BRCA1c.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
17g.43063923_43063924delCA003242BRCA1c.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
17g.43063923_43063924delinsCACA2260769550BRCA1c.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
17g.43063924delCA658824722BRCA1c.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
17g.43063924A=CA2260769551BRCA1c.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=
17g.43063924A>CCA10591324BRCA1c.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
17g.43063924A>GCA10591325BRCA1c.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
17g.43063924A>TCA10591326BRCA1c.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
17g.43063925G>ACA500146205BRCA1c.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
17g.43063925G>CCA10591327BRCA1c.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
17g.43063925G=CA2260769552BRCA1c.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=
17g.43063925G>TCA10591328BRCA1c.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
17g.43063926T>ACA500146207BRCA1c.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
17g.43063926T>CCA003241BRCA1c.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
17g.43063926T>GCA500146206BRCA1c.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
17g.43063926T=CA2260769553BRCA1c.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=
17g.43063927G>ACA10591329BRCA1c.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
17g.43063927G>CCA10591330BRCA1c.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
17g.43063927G=CA2260769554BRCA1c.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=
17g.43063927G>TCA10591331BRCA1c.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
17g.43063927_43063928delinsGTCA2260769555BRCA1c.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
17g.43063928delCA003239BRCA1c.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
17g.43063928T>ACA10591332BRCA1c.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
17g.43063928T>CCA003238BRCA1c.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
17g.43063928T>GCA10591333BRCA1c.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
17g.43063928T=CA2260769556BRCA1c.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=
17g.43063928dupCA2573320462BRCA1c.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
17g.43063928_43063929insGCA2573320463BRCA1c.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
17g.43063929C>ACA500146208BRCA1c.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
17g.43063929C=CA2260769557BRCA1c.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=
17g.43063929C>GCA500146209BRCA1c.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
17g.43063929C>TCA500146210BRCA1c.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
17g.43063929_43063930delCA915940270BRCA1c.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
17g.43063929_43063930delinsAGCA913203491BRCA1c.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
17g.43063930dupCA913203492BRCA1c.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
17g.43063930delCA915940246BRCA1c.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
17g.43063929_43063930insACA915940217BRCA1c.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
17g.43063929_43063930insAAACA915940245BRCA1c.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
17g.43063930C>ACA003237BRCA1c.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
17g.43063930C=CA913203494BRCA1c.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=
17g.43063930C>GCA003236BRCA1c.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
17g.43063930C>TCA003235BRCA1c.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
17g.43063930_43063932dupCA915940244BRCA1c.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
17g.43063930_43063931insCGTCA915940249BRCA1c.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
17g.43063931G>ACA003234BRCA1c.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
17g.43063931G>CCA10591334BRCA1c.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
17g.43063931G=CA2260769558BRCA1c.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=
17g.43063931G>TCA003233BRCA1c.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
17g.43063931delinsCGTCA915940248BRCA1c.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
17g.43063932T>ACA10591335BRCA1c.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
17g.43063932T>CCA003232BRCA1c.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
17g.43063932T>GCA10591336BRCA1c.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
17g.43063932T=CA2260769559BRCA1c.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=
17g.43063933T>ACA10591337BRCA1c.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
17g.43063933T>CCA10591338BRCA1c.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
17g.43063933T>GCA10591339BRCA1c.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
17g.43063933T=CA2260769561BRCA1c.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=
17g.43063933_43063935delinsTCACA2260769560BRCA1c.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
17g.43063934C>ACA10591340BRCA1c.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
17g.43063934C=CA2260769563BRCA1c.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=
17g.43063934C>GCA10591341BRCA1c.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
17g.43063934C>TCA10591342BRCA1c.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
17g.43063934_43063935delinsCACA2260769562BRCA1c.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
17g.43063940_43063941dupCA2580612626BRCA1c.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
17g.43063940_43063941delCA003231BRCA1c.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
17g.43063938_43063941delCA2580612627BRCA1c.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
17g.43063935delCA645373158BRCA1c.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
17g.43063935A=CA2260769564BRCA1c.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=
17g.43063935A>CCA10591343BRCA1c.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
17g.43063935A>GCA500146211BRCA1c.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
17g.43063935A>TCA10591344BRCA1c.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
17g.43063937_43063944delCA2580093960BRCA1c.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
17g.43063936delCA2499224381BRCA1c.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
17g.43063936C>ACA10591345BRCA1c.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
17g.43063936C=CA2260769565BRCA1c.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=
17g.43063936C>GCA10591346BRCA1c.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
17g.43063936C>TCA003230BRCA1c.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
17g.43063936_43063942delinsCACACAACA2260769566BRCA1c.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
17g.43063937A=CA2260769567BRCA1c.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=
17g.43063937A>CCA10591347BRCA1c.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
17g.43063937A>GCA003228BRCA1c.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
17g.43063937A>TCA003227BRCA1c.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
17g.43063939_43063944delCA1139665573BRCA1c.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
17g.43063938C>ACA500146212BRCA1c.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
17g.43063938C=CA2260769568BRCA1c.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=
17g.43063938C>GCA500146213BRCA1c.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
17g.43063938C>TCA10583552BRCA1c.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
17g.43063939A=CA2260769569BRCA1c.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=
17g.43063939A>CCA10591348BRCA1c.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
17g.43063939A>GCA10591349BRCA1c.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
17g.43063939A>TCA003225BRCA1c.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
17g.43063941_43063944delCA2739265602BRCA1c.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
17g.43063940C>ACA10583553BRCA1c.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
17g.43063940C=CA2260769570BRCA1c.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=
17g.43063940C>GCA003224BRCA1c.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
17g.43063940C>TCA10591350BRCA1c.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
17g.43063940_43063942delinsCAACA2260769571BRCA1c.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
17g.43063942_43063947delCA2697559913BRCA1c.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
17g.43063941A=CA2260769572BRCA1c.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=
17g.43063941A>CCA10591351BRCA1c.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
17g.43063941A>GCA500146214BRCA1c.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
17g.43063941A>TCA003223BRCA1c.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
17g.43063943dupCA919844108BRCA1c.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
17g.43063942_43063943delCA003222BRCA1c.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
17g.43063941_43063942insCCA658824723BRCA1c.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
17g.43063942A=CA2260769573BRCA1c.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=
17g.43063942A>CCA10591352BRCA1c.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
17g.43063942A>GCA10591353BRCA1c.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
17g.43063942A>TCA10591354BRCA1c.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
17g.43063942_43063943insCCA10589619BRCA1c.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
17g.43063943A=CA2260769574BRCA1c.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=
17g.43063943A>CCA10591355BRCA1c.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
17g.43063943A>GCA10591356BRCA1c.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
17g.43063943A>TCA10591357BRCA1c.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
17g.43063944C>ACA10591358BRCA1c.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
17g.43063944C=CA2260769575BRCA1c.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=
17g.43063944C>GCA10591359BRCA1c.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
17g.43063944C>TCA500146215BRCA1c.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
17g.43063945T>ACA10591360BRCA1c.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
17g.43063945T>CCA10591361BRCA1c.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
17g.43063945T>GCA10591362BRCA1c.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
17g.43063945T=CA2260769577BRCA1c.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=
17g.43063945_43063946delinsTCCA2260769578BRCA1c.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
17g.43063945_43063948delinsTCAGCA2260769579BRCA1c.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
17g.43063945_43063949delinsTCAGCCA2260769576BRCA1c.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
17g.43063946delCA658656679BRCA1c.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
17g.43063946C>ACA003221BRCA1c.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
17g.43063946C=CA2260769580BRCA1c.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=
17g.43063946C>GCA10591363BRCA1c.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
17g.43063946C>TCA10591364BRCA1c.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
17g.43063946_43063949delinsGCAGAATCAACA10602579BRCA1c.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
17g.43063946_43063949delinsGCAGAATGAACA003218BRCA1c.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
17g.43063948_43063950delCA003219BRCA1c.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
17g.43063947A=CA2260769582BRCA1c.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=
17g.43063947A>CCA500146216BRCA1c.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
17g.43063947A>GCA500146217BRCA1c.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
17g.43063947A>TCA500146218BRCA1c.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
17g.43063947_43063951delinsAGCATCA2260769581BRCA1c.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
17g.43063948G>ACA10591365BRCA1c.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
17g.43063948G>CCA10591366BRCA1c.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
17g.43063948G=CA2260769583BRCA1c.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=
17g.43063948G>TCA10591367BRCA1c.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
17g.43063948_43063951delCA003211BRCA1c.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
17g.43063949C>ACA10591368BRCA1c.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
17g.43063949C=CA2260769585BRCA1c.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=
17g.43063949C>GCA10591369BRCA1c.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
17g.43063949C>TCA10591370BRCA1c.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
17g.43063949_43063950delinsCACA2260769584BRCA1c.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
17g.43063950delCA10589620BRCA1c.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
17g.43063950A=CA2260769586BRCA1c.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=
17g.43063950A>CCA10591371BRCA1c.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
17g.43063950A>GCA500146219BRCA1c.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
17g.43063950A>TCA10591372BRCA1c.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
17g.43063951T>ACA003216BRCA1c.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
17g.43063951T>CCA10591373BRCA1c.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
17g.43063951T>GCA10586678BRCA1c.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
17g.43063951T=CA2260769587BRCA1c.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=
17g.43063955_43071241delCA10575957BRCA1c.4674_5072del
c.4677_5075del
c.4551_4949del
c.4671_5069del
c.4599_4997del
c.1365_1763del
c.1227_1625del
c.3789_4187del
c.4554_4952del
c.4743_5141del
c.4536_4934del
c.1239_1637del
c.4740_5138del
c.1064_1462del
c.1251_1649del
c.*4460_*4858del
c.990_1388del
c.5-7286_5del
c.150_548del
c.-98-21047_-98-13761del (n.-98-21047_-98-13761del)
n.4813_5211del
n.4854_5252del
 ClinVar
17g.43063952delCA2499224382BRCA1c.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
17g.43063952C>ACA003206BRCA1c.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
17g.43063952C=CA2260769588BRCA1c.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=
17g.43063952C>GCA003205BRCA1c.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
17g.43063952C>TCA003204BRCA1c.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
17g.43063952_43063953delinsCTCA2260769589BRCA1c.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
17g.43063953delCA10602580BRCA1c.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
17g.43063953T>ACA003208BRCA1c.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
17g.43063953T>CCA10585907BRCA1c.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
17g.43063953T>GCA003207BRCA1c.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
17g.43063953T=CA2260769590BRCA1c.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=
17g.43063954G>ACA16607660BRCA1c.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
17g.43063954G>CCA003209BRCA1c.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
17g.43063954G=CA2260769591BRCA1c.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=
17g.43063954G>TCA916080127BRCA1c.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
17g.43063954_43063955insTTTTCATAACAACATGAGTAGTCTCTTCA2638061591BRCA1c.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
17g.43063955C>ACA915950083BRCA1c.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
17g.43063955C=CA2260769592BRCA1c.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=
17g.43063955C>GCA916080128BRCA1c.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
17g.43063955C>TCA003210BRCA1c.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
17g.43063956A=CA2260769593BRCA1c.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=
17g.43063956A>CCA916080129BRCA1c.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
17g.43063956A>GCA053872BRCA1c.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
17g.43063956A>TCA916080130BRCA1c.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
17g.43063957G>ACA658798075BRCA1c.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
17g.43063957G>CCA916080131BRCA1c.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
17g.43063957G=CA2260769594BRCA1c.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=
17g.43063957G>TCA003213BRCA1c.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
17g.43063958A=CA2260769595BRCA1c.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=
17g.43063958A>CCA916080132BRCA1c.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
17g.43063958A>GCA053876BRCA1c.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
17g.43063958A>TCA916080133BRCA1c.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
17g.43063959A=CA2260769596BRCA1c.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=
17g.43063959A>CCA003214BRCA1c.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
17g.43063959A>GCA916080136BRCA1c.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
17g.43063959A>TCA916080135BRCA1c.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
17g.43063960T>ACA003215BRCA1c.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
17g.43063960T>CCA10583554BRCA1c.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
17g.43063960T>GCA658656680BRCA1c.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
17g.43063960T=CA2260769597BRCA1c.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=
17g.43063961G>ACA916080139BRCA1c.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
17g.43063961G>CCA916080138BRCA1c.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
17g.43063961G=CA2260769598BRCA1c.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=
17g.43063961G>TCA916080140BRCA1c.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
17g.43063962A=CA2260769599BRCA1c.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=
17g.43063962A>GCA16615749BRCA1c.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
17g.43063963A>GCA2499224383BRCA1c.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
17g.43063965A=CA2260769600BRCA1c.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=
17g.43063965A>CCA772174147BRCA1c.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
17g.43063965A>TCA2733669329BRCA1c.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
17g.43063966A>CCA2740095372BRCA1c.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
17g.43063967C>ACA2733911818BRCA1c.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
17g.43063967C>GCA1139770774BRCA1c.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
17g.43063967C>TCA2638061592BRCA1c.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
17g.43063968A=CA2260769601BRCA1c.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=
17g.43063968A>TCA626080904BRCA1c.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
17g.43063969C>ACA915950086BRCA1c.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
17g.43063969C=CA2260769602BRCA1c.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=
17g.43063969C>GCA2733658924BRCA1c.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
17g.43063969C>TCA16615377BRCA1c.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
17g.43063970T>ACA2638061593BRCA1c.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
17g.43063970T>CCA658798076BRCA1c.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
17g.43063970T=CA2260769603BRCA1c.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=
17g.43063971C>ACA2733911885BRCA1c.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
17g.43063971C>GCA2733911890BRCA1c.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
17g.43063971C>TCA2573154092BRCA1c.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
17g.43063972A>GCA2733911944BRCA1c.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
17g.43063974dupCA2576282188BRCA1c.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

Number of alleles fetched