Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.43057054_43063375delCA658655493BRCA1c.5151_5274+1del
c.5154_5277+1del
c.5028_5151+1del
c.5148_5271+1del
c.5076_5199+1del
c.1842_1965+1del
c.1704_1827+1del
c.4266_4389+1del
c.5031_5154+1del
c.5220_5343+1del
c.5013_5136+1del
c.1716_1839+1del
c.5217_5340+1del
c.1541_1664+1del
c.1728_1851+1del
c.*4937_*5060+1del
c.84_207+1del
c.627_750+1del
c.-98-13182_-98-6861del (n.-98-13182_-98-6861del)
n.5290_5413+1del
n.5331_5454+1del
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.43061133_43063725delinsAAAAAAAAAAAACA16043346BRCA1c.5149+149_5190+2200delinsTTTTTTTTTTTT
c.5152+149_5193+2200delinsTTTTTTTTTTTT
c.5026+149_5067+2200delinsTTTTTTTTTTTT
c.5146+149_5187+2200delinsTTTTTTTTTTTT
c.5074+149_5115+2200delinsTTTTTTTTTTTT
c.1840+149_1881+2200delinsTTTTTTTTTTTT
c.1702+149_1743+2200delinsTTTTTTTTTTTT
c.4264+149_4305+2200delinsTTTTTTTTTTTT
c.5029+149_5070+2200delinsTTTTTTTTTTTT
c.5218+149_5259+2200delinsTTTTTTTTTTTT
c.5011+149_5052+2200delinsTTTTTTTTTTTT
c.1714+149_1755+2200delinsTTTTTTTTTTTT
c.5215+149_5256+2200delinsTTTTTTTTTTTT
c.1539+149_1580+2200delinsTTTTTTTTTTTT
c.1726+149_1767+2200delinsTTTTTTTTTTTT
c.*4935+149_*4976+2200delinsTTTTTTTTTTTT
c.82+149_123+2200delinsTTTTTTTTTTTT
c.625+149_666+2200delinsTTTTTTTTTTTT
c.-98-13535_-98-10943delinsTTTTTTTTTTTT (n.-98-13535_-98-10943delinsTTTTTTTTTTTT)
n.5288+149_5329+2200delinsTTTTTTTTTTTT
n.5329+149_5370+2200delinsTTTTTTTTTTTT
 ClinVar
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.43063331_43063452delCA2499224372BRCA1c.5150-77_5190+4del
c.5153-77_5193+4del
c.5027-77_5067+4del
c.5147-77_5187+4del
c.5075-77_5115+4del
c.1841-77_1881+4del
c.1703-77_1743+4del
c.4265-77_4305+4del
c.5030-77_5070+4del
c.5219-77_5259+4del
c.5012-77_5052+4del
c.1715-77_1755+4del
c.5216-77_5256+4del
c.1540-77_1580+4del
c.1727-77_1767+4del
c.*4936-77_*4976+4del
c.83-77_123+4del
c.626-77_666+4del
c.-98-13260_-98-13139del (n.-98-13260_-98-13139del)
n.5289-77_5329+4del
n.5330-77_5370+4del
 ClinVar dbSNP
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.43063358_43063359delinsATCA2260769212BRCA1c.5164_5165delinsAT (p.Ile1722=)
c.5167_5168delinsAT (p.Ile1723=)
c.5041_5042delinsAT (p.Ile1681=)
c.5161_5162delinsAT (p.Ile1721=)
c.5089_5090delinsAT (p.Ile1697=)
c.1855_1856delinsAT (p.Ile619=)
c.1717_1718delinsAT (p.Ile573=)
c.4279_4280delinsAT (p.Ile1427=)
c.5044_5045delinsAT (p.Ile1682=)
c.5233_5234delinsAT (p.Ile1745=)
c.5026_5027delinsAT (p.Ile1676=)
c.1729_1730delinsAT (p.Ile577=)
c.5230_5231delinsAT (p.Ile1744=)
c.1554_1555delinsAT
c.1741_1742delinsAT (p.Ile581=)
c.*4950_*4951delinsAT (n.*4950_*4951delinsAT)
c.1480_1481delinsAT (p.Ile494=)
c.97_98delinsAT (p.Ile33=)
c.640_641delinsAT (p.Ile214=)
c.-98-13169_-98-13168delinsAT (n.-98-13169_-98-13168delinsAT)
n.5303_5304delinsAT
n.5344_5345delinsAT
17g.43063359T>ACA10591211BRCA1c.5164A>T (p.Ile1722Phe)
c.5167A>T (p.Ile1723Phe)
c.5041A>T (p.Ile1681Phe)
c.5161A>T (p.Ile1721Phe)
c.5089A>T (p.Ile1697Phe)
c.1855A>T (p.Ile619Phe)
c.1717A>T (p.Ile573Phe)
c.4279A>T (p.Ile1427Phe)
c.5044A>T (p.Ile1682Phe)
c.5233A>T (p.Ile1745Phe)
c.5026A>T (p.Ile1676Phe)
c.1729A>T (p.Ile577Phe)
c.5230A>T (p.Ile1744Phe)
c.1554A>T
c.1741A>T (p.Ile581Phe)
c.*4950A>T (n.*4950A>T)
c.1480A>T (p.Ile494Phe)
c.97A>T (p.Ile33Phe)
c.640A>T (p.Ile214Phe)
c.-98-13169A>T (n.-98-13169A>T)
n.5303A>T
n.5344A>T
 ClinVar dbSNP
17g.43063359T>CCA10591212BRCA1c.5164A>G (p.Ile1722Val)
c.5167A>G (p.Ile1723Val)
c.5041A>G (p.Ile1681Val)
c.5161A>G (p.Ile1721Val)
c.5089A>G (p.Ile1697Val)
c.1855A>G (p.Ile619Val)
c.1717A>G (p.Ile573Val)
c.4279A>G (p.Ile1427Val)
c.5044A>G (p.Ile1682Val)
c.5233A>G (p.Ile1745Val)
c.5026A>G (p.Ile1676Val)
c.1729A>G (p.Ile577Val)
c.5230A>G (p.Ile1744Val)
c.1554A>G
c.1741A>G (p.Ile581Val)
c.*4950A>G (n.*4950A>G)
c.1480A>G (p.Ile494Val)
c.97A>G (p.Ile33Val)
c.640A>G (p.Ile214Val)
c.-98-13169A>G (n.-98-13169A>G)
n.5303A>G
n.5344A>G
 ClinVar dbSNP gnomAD v4
17g.43063359T>GCA10591213BRCA1c.5164A>C (p.Ile1722Leu)
c.5167A>C (p.Ile1723Leu)
c.5041A>C (p.Ile1681Leu)
c.5161A>C (p.Ile1721Leu)
c.5089A>C (p.Ile1697Leu)
c.1855A>C (p.Ile619Leu)
c.1717A>C (p.Ile573Leu)
c.4279A>C (p.Ile1427Leu)
c.5044A>C (p.Ile1682Leu)
c.5233A>C (p.Ile1745Leu)
c.5026A>C (p.Ile1676Leu)
c.1729A>C (p.Ile577Leu)
c.5230A>C (p.Ile1744Leu)
c.1554A>C
c.1741A>C (p.Ile581Leu)
c.*4950A>C (n.*4950A>C)
c.1480A>C (p.Ile494Leu)
c.97A>C (p.Ile33Leu)
c.640A>C (p.Ile214Leu)
c.-98-13169A>C (n.-98-13169A>C)
n.5303A>C
n.5344A>C
 ClinVar dbSNP
17g.43063359T=CA2260769214BRCA1c.5164A= (p.Ile1722=)
c.5167A= (p.Ile1723=)
c.5041A= (p.Ile1681=)
c.5161A= (p.Ile1721=)
c.5089A= (p.Ile1697=)
c.1855A= (p.Ile619=)
c.1717A= (p.Ile573=)
c.4279A= (p.Ile1427=)
c.5044A= (p.Ile1682=)
c.5233A= (p.Ile1745=)
c.5026A= (p.Ile1676=)
c.1729A= (p.Ile577=)
c.5230A= (p.Ile1744=)
c.1554A=
c.1741A= (p.Ile581=)
c.*4950A= (n.*4950A=)
c.1480A= (p.Ile494=)
c.97A= (p.Ile33=)
c.640A= (p.Ile214=)
c.-98-13169A= (n.-98-13169A=)
n.5303A=
n.5344A=
17g.43063359delinsAAACA273776BRCA1c.5164delinsTTT (p.Ile1722PhefsTer8)
c.5167delinsTTT (p.Ile1723PhefsTer8)
c.5041delinsTTT (p.Ile1681PhefsTer8)
c.5161delinsTTT (p.Ile1721PhefsTer8)
c.5089delinsTTT (p.Ile1697PhefsTer8)
c.1855delinsTTT (p.Ile619PhefsTer8)
c.1717delinsTTT (p.Ile573PhefsTer8)
c.4279delinsTTT (p.Ile1427PhefsTer8)
c.5044delinsTTT (p.Ile1682PhefsTer8)
c.5233delinsTTT (p.Ile1745PhefsTer8)
c.5026delinsTTT (p.Ile1676PhefsTer8)
c.1729delinsTTT (p.Ile577PhefsTer8)
c.5230delinsTTT (p.Ile1744PhefsTer8)
c.1554delinsTTT
c.1741delinsTTT (p.Ile581PhefsTer8)
c.*4950delinsTTT (n.*4950delinsTTT)
c.1855delinsTTT (p.Ile619PhefsTer?)
c.1480delinsTTT (p.Ile494PhefsTer?)
c.97delinsTTT (p.Ile33PhefsTer8)
c.640delinsTTT (p.Ile214PhefsTer8)
c.-98-13169delinsTTT (n.-98-13169delinsTTT)
n.5303delinsTTT
n.5344delinsTTT
 ClinVar dbSNP
17g.43063360A=CA2260769216BRCA1c.5163T= (p.Ser1721=)
c.5166T= (p.Ser1722=)
c.5040T= (p.Ser1680=)
c.5160T= (p.Ser1720=)
c.5088T= (p.Ser1696=)
c.1854T= (p.Ser618=)
c.1716T= (p.Ser572=)
c.4278T= (p.Ser1426=)
c.5043T= (p.Ser1681=)
c.5232T= (p.Ser1744=)
c.5025T= (p.Ser1675=)
c.1728T= (p.Ser576=)
c.5229T= (p.Ser1743=)
c.1553T=
c.1740T= (p.Ser580=)
c.*4949T= (n.*4949T=)
c.1479T= (p.Ser493=)
c.96T= (p.Ser32=)
c.639T= (p.Ser213=)
c.-98-13170T= (n.-98-13170T=)
n.5302T=
n.5343T=
17g.43063360A>CCA500146052BRCA1c.5163T>G (p.Ser1721=)
c.5166T>G (p.Ser1722=)
c.5040T>G (p.Ser1680=)
c.5160T>G (p.Ser1720=)
c.5088T>G (p.Ser1696=)
c.1854T>G (p.Ser618=)
c.1716T>G (p.Ser572=)
c.4278T>G (p.Ser1426=)
c.5043T>G (p.Ser1681=)
c.5232T>G (p.Ser1744=)
c.5025T>G (p.Ser1675=)
c.1728T>G (p.Ser576=)
c.5229T>G (p.Ser1743=)
c.1553T>G
c.1740T>G (p.Ser580=)
c.*4949T>G (n.*4949T>G)
c.1479T>G (p.Ser493=)
c.96T>G (p.Ser32=)
c.639T>G (p.Ser213=)
c.-98-13170T>G (n.-98-13170T>G)
n.5302T>G
n.5343T>G
 ClinVar dbSNP
17g.43063360A>GCA500146053BRCA1c.5163T>C (p.Ser1721=)
c.5166T>C (p.Ser1722=)
c.5040T>C (p.Ser1680=)
c.5160T>C (p.Ser1720=)
c.5088T>C (p.Ser1696=)
c.1854T>C (p.Ser618=)
c.1716T>C (p.Ser572=)
c.4278T>C (p.Ser1426=)
c.5043T>C (p.Ser1681=)
c.5232T>C (p.Ser1744=)
c.5025T>C (p.Ser1675=)
c.1728T>C (p.Ser576=)
c.5229T>C (p.Ser1743=)
c.1553T>C
c.1740T>C (p.Ser580=)
c.*4949T>C (n.*4949T>C)
c.1479T>C (p.Ser493=)
c.96T>C (p.Ser32=)
c.639T>C (p.Ser213=)
c.-98-13170T>C (n.-98-13170T>C)
n.5302T>C
n.5343T>C
 ClinVar dbSNP
17g.43063360A>TCA500146054BRCA1c.5163T>A (p.Ser1721=)
c.5166T>A (p.Ser1722=)
c.5040T>A (p.Ser1680=)
c.5160T>A (p.Ser1720=)
c.5088T>A (p.Ser1696=)
c.1854T>A (p.Ser618=)
c.1716T>A (p.Ser572=)
c.4278T>A (p.Ser1426=)
c.5043T>A (p.Ser1681=)
c.5232T>A (p.Ser1744=)
c.5025T>A (p.Ser1675=)
c.1728T>A (p.Ser576=)
c.5229T>A (p.Ser1743=)
c.1553T>A
c.1740T>A (p.Ser580=)
c.*4949T>A (n.*4949T>A)
c.1479T>A (p.Ser493=)
c.96T>A (p.Ser32=)
c.639T>A (p.Ser213=)
c.-98-13170T>A (n.-98-13170T>A)
n.5302T>A
n.5343T>A
 ClinVar dbSNP
17g.43063360_43063365delinsAGACTGCA2260769215BRCA1c.5158_5163delinsCAGTCT (p.Gln1720=)
c.5161_5166delinsCAGTCT (p.Gln1721=)
c.5035_5040delinsCAGTCT (p.Gln1679=)
c.5155_5160delinsCAGTCT (p.Gln1719=)
c.5083_5088delinsCAGTCT (p.Gln1695=)
c.1849_1854delinsCAGTCT (p.Gln617=)
c.1711_1716delinsCAGTCT (p.Gln571=)
c.4273_4278delinsCAGTCT (p.Gln1425=)
c.5038_5043delinsCAGTCT (p.Gln1680=)
c.5227_5232delinsCAGTCT (p.Gln1743=)
c.5020_5025delinsCAGTCT (p.Gln1674=)
c.1723_1728delinsCAGTCT (p.Gln575=)
c.5224_5229delinsCAGTCT (p.Gln1742=)
c.1548_1553delinsCAGTCT
c.1735_1740delinsCAGTCT (p.Gln579=)
c.*4944_*4949delinsCAGTCT (n.*4944_*4949delinsCAGTCT)
c.1474_1479delinsCAGTCT (p.Gln492=)
c.91_96delinsCAGTCT (p.Gln31=)
c.634_639delinsCAGTCT (p.Gln212=)
c.-98-13175_-98-13170delinsCAGTCT (n.-98-13175_-98-13170delinsCAGTCT)
n.5297_5302delinsCAGTCT
n.5338_5343delinsCAGTCT
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.43063361G>ACA003318BRCA1c.5162C>T (p.Ser1721Phe)
c.5165C>T (p.Ser1722Phe)
c.5039C>T (p.Ser1680Phe)
c.5159C>T (p.Ser1720Phe)
c.5087C>T (p.Ser1696Phe)
c.1853C>T (p.Ser618Phe)
c.1715C>T (p.Ser572Phe)
c.4277C>T (p.Ser1426Phe)
c.5042C>T (p.Ser1681Phe)
c.5231C>T (p.Ser1744Phe)
c.5024C>T (p.Ser1675Phe)
c.1727C>T (p.Ser576Phe)
c.5228C>T (p.Ser1743Phe)
c.1552C>T
c.1739C>T (p.Ser580Phe)
c.*4948C>T (n.*4948C>T)
c.1478C>T (p.Ser493Phe)
c.95C>T (p.Ser32Phe)
c.638C>T (p.Ser213Phe)
c.-98-13171C>T (n.-98-13171C>T)
n.5301C>T
n.5342C>T
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
17g.43063361G>CCA10591214BRCA1c.5162C>G (p.Ser1721Cys)
c.5165C>G (p.Ser1722Cys)
c.5039C>G (p.Ser1680Cys)
c.5159C>G (p.Ser1720Cys)
c.5087C>G (p.Ser1696Cys)
c.1853C>G (p.Ser618Cys)
c.1715C>G (p.Ser572Cys)
c.4277C>G (p.Ser1426Cys)
c.5042C>G (p.Ser1681Cys)
c.5231C>G (p.Ser1744Cys)
c.5024C>G (p.Ser1675Cys)
c.1727C>G (p.Ser576Cys)
c.5228C>G (p.Ser1743Cys)
c.1552C>G
c.1739C>G (p.Ser580Cys)
c.*4948C>G (n.*4948C>G)
c.1478C>G (p.Ser493Cys)
c.95C>G (p.Ser32Cys)
c.638C>G (p.Ser213Cys)
c.-98-13171C>G (n.-98-13171C>G)
n.5301C>G
n.5342C>G
 ClinVar dbSNP
17g.43063361G=CA2260769217BRCA1c.5162C= (p.Ser1721=)
c.5165C= (p.Ser1722=)
c.5039C= (p.Ser1680=)
c.5159C= (p.Ser1720=)
c.5087C= (p.Ser1696=)
c.1853C= (p.Ser618=)
c.1715C= (p.Ser572=)
c.4277C= (p.Ser1426=)
c.5042C= (p.Ser1681=)
c.5231C= (p.Ser1744=)
c.5024C= (p.Ser1675=)
c.1727C= (p.Ser576=)
c.5228C= (p.Ser1743=)
c.1552C=
c.1739C= (p.Ser580=)
c.*4948C= (n.*4948C=)
c.1478C= (p.Ser493=)
c.95C= (p.Ser32=)
c.638C= (p.Ser213=)
c.-98-13171C= (n.-98-13171C=)
n.5301C=
n.5342C=
17g.43063361G>TCA10591215BRCA1c.5162C>A (p.Ser1721Tyr)
c.5165C>A (p.Ser1722Tyr)
c.5039C>A (p.Ser1680Tyr)
c.5159C>A (p.Ser1720Tyr)
c.5087C>A (p.Ser1696Tyr)
c.1853C>A (p.Ser618Tyr)
c.1715C>A (p.Ser572Tyr)
c.4277C>A (p.Ser1426Tyr)
c.5042C>A (p.Ser1681Tyr)
c.5231C>A (p.Ser1744Tyr)
c.5024C>A (p.Ser1675Tyr)
c.1727C>A (p.Ser576Tyr)
c.5228C>A (p.Ser1743Tyr)
c.1552C>A
c.1739C>A (p.Ser580Tyr)
c.*4948C>A (n.*4948C>A)
c.1478C>A (p.Ser493Tyr)
c.95C>A (p.Ser32Tyr)
c.638C>A (p.Ser213Tyr)
c.-98-13171C>A (n.-98-13171C>A)
n.5301C>A
n.5342C>A
 ClinVar dbSNP
17g.43063361dupCA658824719BRCA1c.5162dup (p.Ile1722TyrfsTer2)
c.5165dup (p.Ile1723TyrfsTer2)
c.5039dup (p.Ile1681TyrfsTer2)
c.5159dup (p.Ile1721TyrfsTer2)
c.5087dup (p.Ile1697TyrfsTer2)
c.1853dup (p.Ile619TyrfsTer2)
c.1715dup (p.Ile573TyrfsTer2)
c.4277dup (p.Ile1427TyrfsTer2)
c.5042dup (p.Ile1682TyrfsTer2)
c.5231dup (p.Ile1745TyrfsTer2)
c.5024dup (p.Ile1676TyrfsTer2)
c.1727dup (p.Ile577TyrfsTer2)
c.5228dup (p.Ile1744TyrfsTer2)
c.1552dup
c.1739dup (p.Ile581TyrfsTer2)
c.*4948dup (n.*4948dup)
c.1478dup (p.Ile494TyrfsTer2)
c.1715dup (p.Ser572=)
c.95dup (p.Ile33TyrfsTer2)
c.638dup (p.Ile214TyrfsTer2)
c.-98-13171dup (n.-98-13171dup)
n.5301dup
n.5342dup
 ClinVar dbSNP
17g.43063362_43063365delCA2499224375BRCA1c.5159_5162del (p.Gln1720LeufsTer8)
c.5162_5165del (p.Gln1721LeufsTer8)
c.5036_5039del (p.Gln1679LeufsTer8)
c.5156_5159del (p.Gln1719LeufsTer8)
c.5084_5087del (p.Gln1695LeufsTer8)
c.1850_1853del (p.Gln617LeufsTer8)
c.1712_1715del (p.Gln571LeufsTer8)
c.4274_4277del (p.Gln1425LeufsTer8)
c.5039_5042del (p.Gln1680LeufsTer8)
c.5228_5231del (p.Gln1743LeufsTer8)
c.5021_5024del (p.Gln1674LeufsTer8)
c.1724_1727del (p.Gln575LeufsTer8)
c.5225_5228del (p.Gln1742LeufsTer8)
c.1549_1552del
c.1736_1739del (p.Gln579LeufsTer8)
c.*4945_*4948del (n.*4945_*4948del)
c.1850_1853del (p.Gln617LeufsTer?)
c.1475_1478del (p.Gln492LeufsTer?)
c.1712_1715del (p.Gln571=)
c.92_95del (p.Gln31LeufsTer8)
c.635_638del (p.Gln212LeufsTer8)
c.-98-13174_-98-13171del (n.-98-13174_-98-13171del)
n.5298_5301del
n.5339_5342del
17g.43063362_43063366delCA10589612BRCA1c.5158_5162del (p.Gln1720TyrfsTer2)
c.5161_5165del (p.Gln1721TyrfsTer2)
c.5035_5039del (p.Gln1679TyrfsTer2)
c.5155_5159del (p.Gln1719TyrfsTer2)
c.5083_5087del (p.Gln1695TyrfsTer2)
c.1849_1853del (p.Gln617TyrfsTer2)
c.1711_1715del (p.Gln571TyrfsTer2)
c.4273_4277del (p.Gln1425TyrfsTer2)
c.5038_5042del (p.Gln1680TyrfsTer2)
c.5227_5231del (p.Gln1743TyrfsTer2)
c.5020_5024del (p.Gln1674TyrfsTer2)
c.1723_1727del (p.Gln575TyrfsTer2)
c.5224_5228del (p.Gln1742TyrfsTer2)
c.1548_1552del
c.1735_1739del (p.Gln579TyrfsTer2)
c.*4944_*4948del (n.*4944_*4948del)
c.1474_1478del (p.Gln492TyrfsTer2)
c.1711_1715del (p.Gln571=)
c.91_95del (p.Gln31TyrfsTer2)
c.634_638del (p.Gln212TyrfsTer2)
c.-98-13175_-98-13171del (n.-98-13175_-98-13171del)
n.5297_5301del
n.5338_5342del
 ClinVar dbSNP
17g.43063362A=CA2260769218BRCA1c.5161T= (p.Ser1721=)
c.5164T= (p.Ser1722=)
c.5038T= (p.Ser1680=)
c.5158T= (p.Ser1720=)
c.5086T= (p.Ser1696=)
c.1852T= (p.Ser618=)
c.1714T= (p.Ser572=)
c.4276T= (p.Ser1426=)
c.5041T= (p.Ser1681=)
c.5230T= (p.Ser1744=)
c.5023T= (p.Ser1675=)
c.1726T= (p.Ser576=)
c.5227T= (p.Ser1743=)
c.1551T=
c.1738T= (p.Ser580=)
c.*4947T= (n.*4947T=)
c.1477T= (p.Ser493=)
c.94T= (p.Ser32=)
c.637T= (p.Ser213=)
c.-98-13172T= (n.-98-13172T=)
n.5300T=
n.5341T=
17g.43063362A>CCA10591216BRCA1c.5161T>G (p.Ser1721Ala)
c.5164T>G (p.Ser1722Ala)
c.5038T>G (p.Ser1680Ala)
c.5158T>G (p.Ser1720Ala)
c.5086T>G (p.Ser1696Ala)
c.1852T>G (p.Ser618Ala)
c.1714T>G (p.Ser572Ala)
c.4276T>G (p.Ser1426Ala)
c.5041T>G (p.Ser1681Ala)
c.5230T>G (p.Ser1744Ala)
c.5023T>G (p.Ser1675Ala)
c.1726T>G (p.Ser576Ala)
c.5227T>G (p.Ser1743Ala)
c.1551T>G
c.1738T>G (p.Ser580Ala)
c.*4947T>G (n.*4947T>G)
c.1477T>G (p.Ser493Ala)
c.94T>G (p.Ser32Ala)
c.637T>G (p.Ser213Ala)
c.-98-13172T>G (n.-98-13172T>G)
n.5300T>G
n.5341T>G
 ClinVar dbSNP
17g.43063362A>GCA003317BRCA1c.5161T>C (p.Ser1721Pro)
c.5164T>C (p.Ser1722Pro)
c.5038T>C (p.Ser1680Pro)
c.5158T>C (p.Ser1720Pro)
c.5086T>C (p.Ser1696Pro)
c.1852T>C (p.Ser618Pro)
c.1714T>C (p.Ser572Pro)
c.4276T>C (p.Ser1426Pro)
c.5041T>C (p.Ser1681Pro)
c.5230T>C (p.Ser1744Pro)
c.5023T>C (p.Ser1675Pro)
c.1726T>C (p.Ser576Pro)
c.5227T>C (p.Ser1743Pro)
c.1551T>C
c.1738T>C (p.Ser580Pro)
c.*4947T>C (n.*4947T>C)
c.1477T>C (p.Ser493Pro)
c.94T>C (p.Ser32Pro)
c.637T>C (p.Ser213Pro)
c.-98-13172T>C (n.-98-13172T>C)
n.5300T>C
n.5341T>C
 ClinVar dbSNP
17g.43063362A>TCA10591217BRCA1c.5161T>A (p.Ser1721Thr)
c.5164T>A (p.Ser1722Thr)
c.5038T>A (p.Ser1680Thr)
c.5158T>A (p.Ser1720Thr)
c.5086T>A (p.Ser1696Thr)
c.1852T>A (p.Ser618Thr)
c.1714T>A (p.Ser572Thr)
c.4276T>A (p.Ser1426Thr)
c.5041T>A (p.Ser1681Thr)
c.5230T>A (p.Ser1744Thr)
c.5023T>A (p.Ser1675Thr)
c.1726T>A (p.Ser576Thr)
c.5227T>A (p.Ser1743Thr)
c.1551T>A
c.1738T>A (p.Ser580Thr)
c.*4947T>A (n.*4947T>A)
c.1477T>A (p.Ser493Thr)
c.94T>A (p.Ser32Thr)
c.637T>A (p.Ser213Thr)
c.-98-13172T>A (n.-98-13172T>A)
n.5300T>A
n.5341T>A
 ClinVar dbSNP
17g.43063362_43063365delinsACTGCA2260769219BRCA1c.5158_5161delinsCAGT (p.Gln1720=)
c.5161_5164delinsCAGT (p.Gln1721=)
c.5035_5038delinsCAGT (p.Gln1679=)
c.5155_5158delinsCAGT (p.Gln1719=)
c.5083_5086delinsCAGT (p.Gln1695=)
c.1849_1852delinsCAGT (p.Gln617=)
c.1711_1714delinsCAGT (p.Gln571=)
c.4273_4276delinsCAGT (p.Gln1425=)
c.5038_5041delinsCAGT (p.Gln1680=)
c.5227_5230delinsCAGT (p.Gln1743=)
c.5020_5023delinsCAGT (p.Gln1674=)
c.1723_1726delinsCAGT (p.Gln575=)
c.5224_5227delinsCAGT (p.Gln1742=)
c.1548_1551delinsCAGT
c.1735_1738delinsCAGT (p.Gln579=)
c.*4944_*4947delinsCAGT (n.*4944_*4947delinsCAGT)
c.1474_1477delinsCAGT (p.Gln492=)
c.91_94delinsCAGT (p.Gln31=)
c.634_637delinsCAGT (p.Gln212=)
c.-98-13175_-98-13172delinsCAGT (n.-98-13175_-98-13172delinsCAGT)
n.5297_5300delinsCAGT
n.5338_5341delinsCAGT
17g.43063362_43063363insGCA10589613BRCA1c.5160_5161insC (p.Ser1721LeufsTer3)
c.5163_5164insC (p.Ser1722LeufsTer3)
c.5037_5038insC (p.Ser1680LeufsTer3)
c.5157_5158insC (p.Ser1720LeufsTer3)
c.5085_5086insC (p.Ser1696LeufsTer3)
c.1851_1852insC (p.Ser618LeufsTer3)
c.1713_1714insC (p.Ser572LeufsTer3)
c.4275_4276insC (p.Ser1426LeufsTer3)
c.5040_5041insC (p.Ser1681LeufsTer3)
c.5229_5230insC (p.Ser1744LeufsTer3)
c.5022_5023insC (p.Ser1675LeufsTer3)
c.1725_1726insC (p.Ser576LeufsTer3)
c.5226_5227insC (p.Ser1743LeufsTer3)
c.1550_1551insC
c.1737_1738insC (p.Ser580LeufsTer3)
c.*4946_*4947insC (n.*4946_*4947insC)
c.1476_1477insC (p.Ser493LeufsTer3)
c.1713_1714insC (p.Ser572LeufsTer?)
c.93_94insC (p.Ser32LeufsTer3)
c.636_637insC (p.Ser213LeufsTer3)
c.-98-13173_-98-13172insC (n.-98-13173_-98-13172insC)
n.5299_5300insC
n.5340_5341insC
 ClinVar dbSNP
17g.43063363C>ACA10591218BRCA1c.5160G>T (p.Gln1720His)
c.5163G>T (p.Gln1721His)
c.5037G>T (p.Gln1679His)
c.5157G>T (p.Gln1719His)
c.5085G>T (p.Gln1695His)
c.1851G>T (p.Gln617His)
c.1713G>T (p.Gln571His)
c.4275G>T (p.Gln1425His)
c.5040G>T (p.Gln1680His)
c.5229G>T (p.Gln1743His)
c.5022G>T (p.Gln1674His)
c.1725G>T (p.Gln575His)
c.5226G>T (p.Gln1742His)
c.1550G>T
c.1737G>T (p.Gln579His)
c.*4946G>T (n.*4946G>T)
c.1476G>T (p.Gln492His)
c.93G>T (p.Gln31His)
c.636G>T (p.Gln212His)
c.-98-13173G>T (n.-98-13173G>T)
n.5299G>T
n.5340G>T
 ClinVar dbSNP
17g.43063363C=CA2260769221BRCA1c.5160G= (p.Gln1720=)
c.5163G= (p.Gln1721=)
c.5037G= (p.Gln1679=)
c.5157G= (p.Gln1719=)
c.5085G= (p.Gln1695=)
c.1851G= (p.Gln617=)
c.1713G= (p.Gln571=)
c.4275G= (p.Gln1425=)
c.5040G= (p.Gln1680=)
c.5229G= (p.Gln1743=)
c.5022G= (p.Gln1674=)
c.1725G= (p.Gln575=)
c.5226G= (p.Gln1742=)
c.1550G=
c.1737G= (p.Gln579=)
c.*4946G= (n.*4946G=)
c.1476G= (p.Gln492=)
c.93G= (p.Gln31=)
c.636G= (p.Gln212=)
c.-98-13173G= (n.-98-13173G=)
n.5299G=
n.5340G=
17g.43063363C>GCA10591219BRCA1c.5160G>C (p.Gln1720His)
c.5163G>C (p.Gln1721His)
c.5037G>C (p.Gln1679His)
c.5157G>C (p.Gln1719His)
c.5085G>C (p.Gln1695His)
c.1851G>C (p.Gln617His)
c.1713G>C (p.Gln571His)
c.4275G>C (p.Gln1425His)
c.5040G>C (p.Gln1680His)
c.5229G>C (p.Gln1743His)
c.5022G>C (p.Gln1674His)
c.1725G>C (p.Gln575His)
c.5226G>C (p.Gln1742His)
c.1550G>C
c.1737G>C (p.Gln579His)
c.*4946G>C (n.*4946G>C)
c.1476G>C (p.Gln492His)
c.93G>C (p.Gln31His)
c.636G>C (p.Gln212His)
c.-98-13173G>C (n.-98-13173G>C)
n.5299G>C
n.5340G>C
 ClinVar dbSNP
17g.43063363C>TCA500146055BRCA1c.5160G>A (p.Gln1720=)
c.5163G>A (p.Gln1721=)
c.5037G>A (p.Gln1679=)
c.5157G>A (p.Gln1719=)
c.5085G>A (p.Gln1695=)
c.1851G>A (p.Gln617=)
c.1713G>A (p.Gln571=)
c.4275G>A (p.Gln1425=)
c.5040G>A (p.Gln1680=)
c.5229G>A (p.Gln1743=)
c.5022G>A (p.Gln1674=)
c.1725G>A (p.Gln575=)
c.5226G>A (p.Gln1742=)
c.1550G>A
c.1737G>A (p.Gln579=)
c.*4946G>A (n.*4946G>A)
c.1476G>A (p.Gln492=)
c.93G>A (p.Gln31=)
c.636G>A (p.Gln212=)
c.-98-13173G>A (n.-98-13173G>A)
n.5299G>A
n.5340G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43063363_43063364delinsCTCA2260769220BRCA1c.5159_5160delinsAG (p.Gln1720=)
c.5162_5163delinsAG (p.Gln1721=)
c.5036_5037delinsAG (p.Gln1679=)
c.5156_5157delinsAG (p.Gln1719=)
c.5084_5085delinsAG (p.Gln1695=)
c.1850_1851delinsAG (p.Gln617=)
c.1712_1713delinsAG (p.Gln571=)
c.4274_4275delinsAG (p.Gln1425=)
c.5039_5040delinsAG (p.Gln1680=)
c.5228_5229delinsAG (p.Gln1743=)
c.5021_5022delinsAG (p.Gln1674=)
c.1724_1725delinsAG (p.Gln575=)
c.5225_5226delinsAG (p.Gln1742=)
c.1549_1550delinsAG
c.1736_1737delinsAG (p.Gln579=)
c.*4945_*4946delinsAG (n.*4945_*4946delinsAG)
c.1475_1476delinsAG (p.Gln492=)
c.92_93delinsAG (p.Gln31=)
c.635_636delinsAG (p.Gln212=)
c.-98-13174_-98-13173delinsAG (n.-98-13174_-98-13173delinsAG)
n.5298_5299delinsAG
n.5339_5340delinsAG
17g.43063363_43063365delCA003313BRCA1c.5158_5160del (p.Gln1720del)
c.5161_5163del (p.Gln1721del)
c.5035_5037del (p.Gln1679del)
c.5155_5157del (p.Gln1719del)
c.5083_5085del (p.Gln1695del)
c.1849_1851del (p.Gln617del)
c.1711_1713del (p.Gln571del)
c.4273_4275del (p.Gln1425del)
c.5038_5040del (p.Gln1680del)
c.5227_5229del (p.Gln1743del)
c.5020_5022del (p.Gln1674del)
c.1723_1725del (p.Gln575del)
c.5224_5226del (p.Gln1742del)
c.1548_1550del
c.1735_1737del (p.Gln579del)
c.*4944_*4946del (n.*4944_*4946del)
c.1474_1476del (p.Gln492del)
c.91_93del (p.Gln31del)
c.634_636del (p.Gln212del)
c.-98-13175_-98-13173del (n.-98-13175_-98-13173del)
n.5297_5299del
n.5338_5340del
 ClinVar dbSNP
17g.43063364delCA003316BRCA1c.5159del (p.Gln1720ArgfsTer9)
c.5162del (p.Gln1721ArgfsTer9)
c.5036del (p.Gln1679ArgfsTer9)
c.5156del (p.Gln1719ArgfsTer9)
c.5084del (p.Gln1695ArgfsTer9)
c.1850del (p.Gln617ArgfsTer9)
c.1712del (p.Gln571ArgfsTer9)
c.4274del (p.Gln1425ArgfsTer9)
c.5039del (p.Gln1680ArgfsTer9)
c.5228del (p.Gln1743ArgfsTer9)
c.5021del (p.Gln1674ArgfsTer9)
c.1724del (p.Gln575ArgfsTer9)
c.5225del (p.Gln1742ArgfsTer9)
c.1549del
c.1736del (p.Gln579ArgfsTer9)
c.*4945del (n.*4945del)
c.1850del (p.Gln617ArgfsTer?)
c.1475del (p.Gln492ArgfsTer?)
c.1712del (p.Gln571ArgfsTer?)
c.92del (p.Gln31ArgfsTer9)
c.635del (p.Gln212ArgfsTer9)
c.-98-13174del (n.-98-13174del)
n.5298del
n.5339del
 ClinVar dbSNP
17g.43063364T>ACA10591220BRCA1c.5159A>T (p.Gln1720Leu)
c.5162A>T (p.Gln1721Leu)
c.5036A>T (p.Gln1679Leu)
c.5156A>T (p.Gln1719Leu)
c.5084A>T (p.Gln1695Leu)
c.1850A>T (p.Gln617Leu)
c.1712A>T (p.Gln571Leu)
c.4274A>T (p.Gln1425Leu)
c.5039A>T (p.Gln1680Leu)
c.5228A>T (p.Gln1743Leu)
c.5021A>T (p.Gln1674Leu)
c.1724A>T (p.Gln575Leu)
c.5225A>T (p.Gln1742Leu)
c.1549A>T
c.1736A>T (p.Gln579Leu)
c.*4945A>T (n.*4945A>T)
c.1475A>T (p.Gln492Leu)
c.92A>T (p.Gln31Leu)
c.635A>T (p.Gln212Leu)
c.-98-13174A>T (n.-98-13174A>T)
n.5298A>T
n.5339A>T
 ClinVar dbSNP
17g.43063364T>CCA10591221BRCA1c.5159A>G (p.Gln1720Arg)
c.5162A>G (p.Gln1721Arg)
c.5036A>G (p.Gln1679Arg)
c.5156A>G (p.Gln1719Arg)
c.5084A>G (p.Gln1695Arg)
c.1850A>G (p.Gln617Arg)
c.1712A>G (p.Gln571Arg)
c.4274A>G (p.Gln1425Arg)
c.5039A>G (p.Gln1680Arg)
c.5228A>G (p.Gln1743Arg)
c.5021A>G (p.Gln1674Arg)
c.1724A>G (p.Gln575Arg)
c.5225A>G (p.Gln1742Arg)
c.1549A>G
c.1736A>G (p.Gln579Arg)
c.*4945A>G (n.*4945A>G)
c.1475A>G (p.Gln492Arg)
c.92A>G (p.Gln31Arg)
c.635A>G (p.Gln212Arg)
c.-98-13174A>G (n.-98-13174A>G)
n.5298A>G
n.5339A>G
 ClinVar dbSNP COSMIC COSMIC
17g.43063364T>GCA10591222BRCA1c.5159A>C (p.Gln1720Pro)
c.5162A>C (p.Gln1721Pro)
c.5036A>C (p.Gln1679Pro)
c.5156A>C (p.Gln1719Pro)
c.5084A>C (p.Gln1695Pro)
c.1850A>C (p.Gln617Pro)
c.1712A>C (p.Gln571Pro)
c.4274A>C (p.Gln1425Pro)
c.5039A>C (p.Gln1680Pro)
c.5228A>C (p.Gln1743Pro)
c.5021A>C (p.Gln1674Pro)
c.1724A>C (p.Gln575Pro)
c.5225A>C (p.Gln1742Pro)
c.1549A>C
c.1736A>C (p.Gln579Pro)
c.*4945A>C (n.*4945A>C)
c.1475A>C (p.Gln492Pro)
c.92A>C (p.Gln31Pro)
c.635A>C (p.Gln212Pro)
c.-98-13174A>C (n.-98-13174A>C)
n.5298A>C
n.5339A>C
 ClinVar dbSNP
17g.43063364T=CA2260769223BRCA1c.5159A= (p.Gln1720=)
c.5162A= (p.Gln1721=)
c.5036A= (p.Gln1679=)
c.5156A= (p.Gln1719=)
c.5084A= (p.Gln1695=)
c.1850A= (p.Gln617=)
c.1712A= (p.Gln571=)
c.4274A= (p.Gln1425=)
c.5039A= (p.Gln1680=)
c.5228A= (p.Gln1743=)
c.5021A= (p.Gln1674=)
c.1724A= (p.Gln575=)
c.5225A= (p.Gln1742=)
c.1549A=
c.1736A= (p.Gln579=)
c.*4945A= (n.*4945A=)
c.1475A= (p.Gln492=)
c.92A= (p.Gln31=)
c.635A= (p.Gln212=)
c.-98-13174A= (n.-98-13174A=)
n.5298A=
n.5339A=

Number of alleles fetched