Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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.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.43064932_43070036delCA10602581BRCA1c.4983+892_5072-981del
c.4986+892_5075-981del
c.4860+892_4949-981del
c.4980+892_5069-981del
c.4908+892_4997-981del
c.1674+892_1763-981del
c.1536+892_1625-981del
c.4098+892_4187-981del
c.4863+892_4952-981del
c.5052+892_5141-981del
c.4845+892_4934-981del
c.1548+892_1637-981del
c.5049+892_5138-981del
c.1373+892_1462-981del
c.1560+892_1649-981del
c.*4769+892_*4858-981del
c.1299+892_1388-981del
c.5-6085_5-981del (n.5-6085_5-981del)
c.459+892_548-981del
c.-98-19846_-98-14742del (n.-98-19846_-98-14742del)
n.5122+892_5211-981del
n.5163+892_5252-981del
 ClinVar
17g.43064935_43070038delCA16043348BRCA1c.4983+890_5072-984del
c.4986+890_5075-984del
c.4860+890_4949-984del
c.4980+890_5069-984del
c.4908+890_4997-984del
c.1674+890_1763-984del
c.1536+890_1625-984del
c.4098+890_4187-984del
c.4863+890_4952-984del
c.5052+890_5141-984del
c.4845+890_4934-984del
c.1548+890_1637-984del
c.5049+890_5138-984del
c.1373+890_1462-984del
c.1560+890_1649-984del
c.*4769+890_*4858-984del
c.1299+890_1388-984del
c.5-6087_5-984del (n.5-6087_5-984del)
c.459+890_548-984del
c.-98-19848_-98-14745del (n.-98-19848_-98-14745del)
n.5122+890_5211-984del
n.5163+890_5252-984del
 ClinVar
17g.43066661_43072815delCA913190336BRCA1c.4672+1532_5071+963del
c.4675+1532_5074+963del
c.4549+1532_4948+963del
c.4669+1532_5068+963del
c.4597+1532_4996+963del
c.1363+1532_1762+963del
c.1225+1532_1624+963del
c.3787+1532_4186+963del
c.4552+1532_4951+963del
c.4741+1532_5140+963del
c.4534+1532_4933+963del
c.1237+1532_1636+963del
c.4738+1532_5137+963del
c.1062+1532_1461+963del
c.1249+1532_1648+963del
c.*4458+1532_*4857+963del
c.988+1532_1387+963del
c.5-8848_5-2694del (n.5-8848_5-2694del)
c.148+1532_547+963del
c.-98-22609_-98-16455del (n.-98-22609_-98-16455del)
n.4811+1532_5210+963del
n.4852+1532_5251+963del
 ClinVar
17g.43066860_43069976delCA16043349BRCA1c.4983+955_5071+751del
c.4986+955_5074+751del
c.4860+955_4948+751del
c.4980+955_5068+751del
c.4908+955_4996+751del
c.1674+955_1762+751del
c.1536+955_1624+751del
c.4098+955_4186+751del
c.4863+955_4951+751del
c.5052+955_5140+751del
c.4845+955_4933+751del
c.1548+955_1636+751del
c.5049+955_5137+751del
c.1373+955_1461+751del
c.1560+955_1648+751del
c.*4769+955_*4857+751del
c.1299+955_1387+751del
c.5-6022_5-2906del (n.5-6022_5-2906del)
c.459+955_547+751del
c.-98-19783_-98-16667del (n.-98-19783_-98-16667del)
n.5122+955_5210+751del
n.5163+955_5251+751del
 ClinVar
17g.43067263_43068276delCA913190339BRCA1c.4984-581_5071+345del
c.4987-581_5074+345del
c.4861-581_4948+345del
c.4981-581_5068+345del
c.4909-581_4996+345del
c.1675-581_1762+345del
c.1537-581_1624+345del
c.4099-581_4186+345del
c.4864-581_4951+345del
c.5053-581_5140+345del
c.4846-581_4933+345del
c.1549-581_1636+345del
c.5050-581_5137+345del
c.1374-581_1461+345del
c.1561-581_1648+345del
c.*4770-581_*4857+345del
c.1300-581_1387+345del
c.5-4325_5-3312del (n.5-4325_5-3312del)
c.460-581_547+345del
c.-98-18086_-98-17073del (n.-98-18086_-98-17073del)
n.5123-581_5210+345del
n.5164-581_5251+345del
 ClinVar
17g.43067266_43068273delCA10602610BRCA1c.4984-577_5071+343del
c.4987-577_5074+343del
c.4861-577_4948+343del
c.4981-577_5068+343del
c.4909-577_4996+343del
c.1675-577_1762+343del
c.1537-577_1624+343del
c.4099-577_4186+343del
c.4864-577_4951+343del
c.5053-577_5140+343del
c.4846-577_4933+343del
c.1549-577_1636+343del
c.5050-577_5137+343del
c.1374-577_1461+343del
c.1561-577_1648+343del
c.*4770-577_*4857+343del
c.1300-577_1387+343del
c.5-4321_5-3314del (n.5-4321_5-3314del)
c.460-577_547+343del
c.-98-18082_-98-17075del (n.-98-18082_-98-17075del)
n.5123-577_5210+343del
n.5164-577_5251+343del
 ClinVar
17g.43067524_43070203delCA10602582BRCA1c.4983+725_5071+84del
c.4986+725_5074+84del
c.4860+725_4948+84del
c.4980+725_5068+84del
c.4908+725_4996+84del
c.1674+725_1762+84del
c.1536+725_1624+84del
c.4098+725_4186+84del
c.4863+725_4951+84del
c.5052+725_5140+84del
c.4845+725_4933+84del
c.1548+725_1636+84del
c.5049+725_5137+84del
c.1373+725_1461+84del
c.1560+725_1648+84del
c.*4769+725_*4857+84del
n.139+725_311del
c.1299+725_1387+84del
c.5-6252_5-3573del (n.5-6252_5-3573del)
c.459+725_547+84del
c.-98-20013_-98-17334del (n.-98-20013_-98-17334del)
n.5122+725_5210+84del
n.5163+725_5251+84del
 ClinVar
17g.43067579_43067738delCA2695225898BRCA1c.4984-43_5071+29del
c.4987-43_5074+29del
c.4861-43_4948+29del
c.4981-43_5068+29del
c.4909-43_4996+29del
c.1675-43_1762+29del
c.1537-43_1624+29del
c.4099-43_4186+29del
c.4864-43_4951+29del
c.5053-43_5140+29del
c.4846-43_4933+29del
c.1549-43_1636+29del
c.5050-43_5137+29del
c.1374-43_1461+29del
c.1561-43_1648+29del
c.*4770-43_*4857+29del
n.140-43_256del
c.1300-43_1387+29del
c.5-3787_5-3628del (n.5-3787_5-3628del)
c.460-43_547+29del
c.-98-17548_-98-17389del (n.-98-17548_-98-17389del)
n.5123-43_5210+29del
n.5164-43_5251+29del
17g.43067601_43067626delCA2544214709BRCA1c.5053_5071+7del
c.5056_5074+7del
c.4930_4948+7del
c.5050_5068+7del
c.4978_4996+7del
c.1744_1762+7del
c.1606_1624+7del
c.4168_4186+7del
c.4933_4951+7del
c.5122_5140+7del
c.4915_4933+7del
c.1618_1636+7del
c.5119_5137+7del
c.1443_1461+7del
c.1630_1648+7del
c.*4839_*4857+7del
n.209_234del
c.1369_1387+7del
c.5-3675_5-3650del (n.5-3675_5-3650del)
c.529_547+7del
c.-98-17436_-98-17411del (n.-98-17436_-98-17411del)
n.5192_5210+7del
n.5233_5251+7del
17g.43067607_43067630delCA2580093974BRCA1c.5051_5071+3del
c.5054_5074+3del
c.4928_4948+3del
c.5048_5068+3del
c.4976_4996+3del
c.1742_1762+3del
c.1604_1624+3del
c.4166_4186+3del
c.4931_4951+3del
c.5120_5140+3del
c.4913_4933+3del
c.1616_1636+3del
c.5117_5137+3del
c.1441_1461+3del
c.1628_1648+3del
c.*4837_*4857+3del
n.207_230del
c.1367_1387+3del
c.5-3677_5-3654del (n.5-3677_5-3654del)
c.527_547+3del
c.-98-17438_-98-17415del (n.-98-17438_-98-17415del)
n.5190_5210+3del
n.5231_5251+3del
 ClinVar
17g.43067611_43067698delCA10589621BRCA1c.4984_5071del
c.4987_5074del
c.4861_4948del
c.4981_5068del
c.4909_4996del
c.1675_1762del
c.1537_1624del
c.4099_4186del
c.4864_4951del
c.5053_5140del
c.4846_4933del
c.1549_1636del
c.5050_5137del
c.1374_1461del
c.1561_1648del
c.*4770_*4857del
n.140_227del
c.1300_1387del
c.5-3744_5-3657del (n.5-3744_5-3657del)
c.460_547del
c.-98-17505_-98-17418del (n.-98-17505_-98-17418del)
n.5123_5210del
n.5164_5251del
 ClinVar
17g.43067611_43071241delCA2581463406BRCA1c.4673_5071del
c.4676_5074del
c.4550_4948del
c.4670_5068del
c.4598_4996del
c.1364_1762del
c.1226_1624del
c.3788_4186del
c.4553_4951del
c.4742_5140del
c.4535_4933del
c.1238_1636del
c.4739_5137del
c.1063_1461del
c.1250_1648del
c.*4459_*4857del
c.989_1387del
c.5-7287_5-3657del (n.5-7287_5-3657del)
c.149_547del
c.-98-21048_-98-17418del (n.-98-21048_-98-17418del)
n.4812_5210del
n.4853_5251del
17g.43067614dupCA003186BRCA1c.5068dup (p.Thr1690AsnfsTer4)
c.5071dup (p.Thr1691AsnfsTer4)
c.4945dup (p.Thr1649AsnfsTer4)
c.5065dup (p.Thr1689AsnfsTer4)
c.4993dup (p.Thr1665AsnfsTer4)
c.1759dup (p.Thr587AsnfsTer4)
c.1621dup (p.Thr541AsnfsTer4)
c.4183dup (p.Thr1395AsnfsTer4)
c.4948dup (p.Thr1650AsnfsTer4)
c.5137dup (p.Thr1713AsnfsTer4)
c.4930dup (p.Thr1644AsnfsTer4)
c.1633dup (p.Thr545AsnfsTer4)
c.5134dup (p.Thr1712AsnfsTer4)
c.1458dup
c.1645dup (p.Thr549AsnfsTer4)
c.*4854dup (n.*4854dup)
n.224dup
c.1384dup (p.Thr462AsnfsTer4)
c.5-3660dup (n.5-3660dup)
c.544dup (p.Thr182AsnfsTer4)
c.-98-17421dup (n.-98-17421dup)
n.5207dup
n.5248dup
 ClinVar dbSNP gnomAD v4
17g.43067614T>ACA003184BRCA1c.5065A>T (p.Lys1689Ter)
c.5068A>T (p.Lys1690Ter)
c.4942A>T (p.Lys1648Ter)
c.5062A>T (p.Lys1688Ter)
c.4990A>T (p.Lys1664Ter)
c.1756A>T (p.Lys586Ter)
c.1618A>T (p.Lys540Ter)
c.4180A>T (p.Lys1394Ter)
c.4945A>T (p.Lys1649Ter)
c.5134A>T (p.Lys1712Ter)
c.4927A>T (p.Lys1643Ter)
c.1630A>T (p.Lys544Ter)
c.5131A>T (p.Lys1711Ter)
c.1455A>T
c.1642A>T (p.Lys548Ter)
c.*4851A>T (n.*4851A>T)
n.221A>T
c.1381A>T (p.Lys461Ter)
c.5-3663A>T (n.5-3663A>T)
c.541A>T (p.Lys181Ter)
c.-98-17424A>T (n.-98-17424A>T)
n.5204A>T
n.5245A>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43067614T>CCA10591384BRCA1c.5065A>G (p.Lys1689Glu)
c.5068A>G (p.Lys1690Glu)
c.4942A>G (p.Lys1648Glu)
c.5062A>G (p.Lys1688Glu)
c.4990A>G (p.Lys1664Glu)
c.1756A>G (p.Lys586Glu)
c.1618A>G (p.Lys540Glu)
c.4180A>G (p.Lys1394Glu)
c.4945A>G (p.Lys1649Glu)
c.5134A>G (p.Lys1712Glu)
c.4927A>G (p.Lys1643Glu)
c.1630A>G (p.Lys544Glu)
c.5131A>G (p.Lys1711Glu)
c.1455A>G
c.1642A>G (p.Lys548Glu)
c.*4851A>G (n.*4851A>G)
n.221A>G
c.1381A>G (p.Lys461Glu)
c.5-3663A>G (n.5-3663A>G)
c.541A>G (p.Lys181Glu)
c.-98-17424A>G (n.-98-17424A>G)
n.5204A>G
n.5245A>G
 ClinVar dbSNP gnomAD v4
17g.43067614T>GCA003183BRCA1c.5065A>C (p.Lys1689Gln)
c.5068A>C (p.Lys1690Gln)
c.4942A>C (p.Lys1648Gln)
c.5062A>C (p.Lys1688Gln)
c.4990A>C (p.Lys1664Gln)
c.1756A>C (p.Lys586Gln)
c.1618A>C (p.Lys540Gln)
c.4180A>C (p.Lys1394Gln)
c.4945A>C (p.Lys1649Gln)
c.5134A>C (p.Lys1712Gln)
c.4927A>C (p.Lys1643Gln)
c.1630A>C (p.Lys544Gln)
c.5131A>C (p.Lys1711Gln)
c.1455A>C
c.1642A>C (p.Lys548Gln)
c.*4851A>C (n.*4851A>C)
n.221A>C
c.1381A>C (p.Lys461Gln)
c.5-3663A>C (n.5-3663A>C)
c.541A>C (p.Lys181Gln)
c.-98-17424A>C (n.-98-17424A>C)
n.5204A>C
n.5245A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43067614T=CA2260771315BRCA1c.5065A= (p.Lys1689=)
c.5068A= (p.Lys1690=)
c.4942A= (p.Lys1648=)
c.5062A= (p.Lys1688=)
c.4990A= (p.Lys1664=)
c.1756A= (p.Lys586=)
c.1618A= (p.Lys540=)
c.4180A= (p.Lys1394=)
c.4945A= (p.Lys1649=)
c.5134A= (p.Lys1712=)
c.4927A= (p.Lys1643=)
c.1630A= (p.Lys544=)
c.5131A= (p.Lys1711=)
c.1455A=
c.1642A= (p.Lys548=)
c.*4851A= (n.*4851A=)
n.221A=
c.1381A= (p.Lys461=)
c.5-3663A= (n.5-3663A=)
c.541A= (p.Lys181=)
c.-98-17424A= (n.-98-17424A=)
n.5204A=
n.5245A=
17g.43067615C>ACA10591385BRCA1c.5064G>T (p.Met1688Ile)
c.5067G>T (p.Met1689Ile)
c.4941G>T (p.Met1647Ile)
c.5061G>T (p.Met1687Ile)
c.4989G>T (p.Met1663Ile)
c.1755G>T (p.Met585Ile)
c.1617G>T (p.Met539Ile)
c.4179G>T (p.Met1393Ile)
c.4944G>T (p.Met1648Ile)
c.5133G>T (p.Met1711Ile)
c.4926G>T (p.Met1642Ile)
c.1629G>T (p.Met543Ile)
c.5130G>T (p.Met1710Ile)
c.1454G>T
c.1641G>T (p.Met547Ile)
c.*4850G>T (n.*4850G>T)
n.220G>T
c.1380G>T (p.Met460Ile)
c.5-3664G>T (n.5-3664G>T)
c.540G>T (p.Met180Ile)
c.-98-17425G>T (n.-98-17425G>T)
n.5203G>T
n.5244G>T
 ClinVar dbSNP
17g.43067615C=CA2260771316BRCA1c.5064G= (p.Met1688=)
c.5067G= (p.Met1689=)
c.4941G= (p.Met1647=)
c.5061G= (p.Met1687=)
c.4989G= (p.Met1663=)
c.1755G= (p.Met585=)
c.1617G= (p.Met539=)
c.4179G= (p.Met1393=)
c.4944G= (p.Met1648=)
c.5133G= (p.Met1711=)
c.4926G= (p.Met1642=)
c.1629G= (p.Met543=)
c.5130G= (p.Met1710=)
c.1454G=
c.1641G= (p.Met547=)
c.*4850G= (n.*4850G=)
n.220G=
c.1380G= (p.Met460=)
c.5-3664G= (n.5-3664G=)
c.540G= (p.Met180=)
c.-98-17425G= (n.-98-17425G=)
n.5203G=
n.5244G=
17g.43067615C>GCA10591386BRCA1c.5064G>C (p.Met1688Ile)
c.5067G>C (p.Met1689Ile)
c.4941G>C (p.Met1647Ile)
c.5061G>C (p.Met1687Ile)
c.4989G>C (p.Met1663Ile)
c.1755G>C (p.Met585Ile)
c.1617G>C (p.Met539Ile)
c.4179G>C (p.Met1393Ile)
c.4944G>C (p.Met1648Ile)
c.5133G>C (p.Met1711Ile)
c.4926G>C (p.Met1642Ile)
c.1629G>C (p.Met543Ile)
c.5130G>C (p.Met1710Ile)
c.1454G>C
c.1641G>C (p.Met547Ile)
c.*4850G>C (n.*4850G>C)
n.220G>C
c.1380G>C (p.Met460Ile)
c.5-3664G>C (n.5-3664G>C)
c.540G>C (p.Met180Ile)
c.-98-17425G>C (n.-98-17425G>C)
n.5203G>C
n.5244G>C
 ClinVar dbSNP
17g.43067615C>TCA10591387BRCA1c.5064G>A (p.Met1688Ile)
c.5067G>A (p.Met1689Ile)
c.4941G>A (p.Met1647Ile)
c.5061G>A (p.Met1687Ile)
c.4989G>A (p.Met1663Ile)
c.1755G>A (p.Met585Ile)
c.1617G>A (p.Met539Ile)
c.4179G>A (p.Met1393Ile)
c.4944G>A (p.Met1648Ile)
c.5133G>A (p.Met1711Ile)
c.4926G>A (p.Met1642Ile)
c.1629G>A (p.Met543Ile)
c.5130G>A (p.Met1710Ile)
c.1454G>A
c.1641G>A (p.Met547Ile)
c.*4850G>A (n.*4850G>A)
n.220G>A
c.1380G>A (p.Met460Ile)
c.5-3664G>A (n.5-3664G>A)
c.540G>A (p.Met180Ile)
c.-98-17425G>A (n.-98-17425G>A)
n.5203G>A
n.5244G>A
 ClinVar dbSNP
17g.43067616A=CA2260771317BRCA1c.5063T= (p.Met1688=)
c.5066T= (p.Met1689=)
c.4940T= (p.Met1647=)
c.5060T= (p.Met1687=)
c.4988T= (p.Met1663=)
c.1754T= (p.Met585=)
c.1616T= (p.Met539=)
c.4178T= (p.Met1393=)
c.4943T= (p.Met1648=)
c.5132T= (p.Met1711=)
c.4925T= (p.Met1642=)
c.1628T= (p.Met543=)
c.5129T= (p.Met1710=)
c.1453T=
c.1640T= (p.Met547=)
c.*4849T= (n.*4849T=)
n.219T=
c.1379T= (p.Met460=)
c.5-3665T= (n.5-3665T=)
c.539T= (p.Met180=)
c.-98-17426T= (n.-98-17426T=)
n.5202T=
n.5243T=
17g.43067616A>CCA003182BRCA1c.5063T>G (p.Met1688Arg)
c.5066T>G (p.Met1689Arg)
c.4940T>G (p.Met1647Arg)
c.5060T>G (p.Met1687Arg)
c.4988T>G (p.Met1663Arg)
c.1754T>G (p.Met585Arg)
c.1616T>G (p.Met539Arg)
c.4178T>G (p.Met1393Arg)
c.4943T>G (p.Met1648Arg)
c.5132T>G (p.Met1711Arg)
c.4925T>G (p.Met1642Arg)
c.1628T>G (p.Met543Arg)
c.5129T>G (p.Met1710Arg)
c.1453T>G
c.1640T>G (p.Met547Arg)
c.*4849T>G (n.*4849T>G)
n.219T>G
c.1379T>G (p.Met460Arg)
c.5-3665T>G (n.5-3665T>G)
c.539T>G (p.Met180Arg)
c.-98-17426T>G (n.-98-17426T>G)
n.5202T>G
n.5243T>G
 ClinVar dbSNP
17g.43067616A>GCA003181BRCA1c.5063T>C (p.Met1688Thr)
c.5066T>C (p.Met1689Thr)
c.4940T>C (p.Met1647Thr)
c.5060T>C (p.Met1687Thr)
c.4988T>C (p.Met1663Thr)
c.1754T>C (p.Met585Thr)
c.1616T>C (p.Met539Thr)
c.4178T>C (p.Met1393Thr)
c.4943T>C (p.Met1648Thr)
c.5132T>C (p.Met1711Thr)
c.4925T>C (p.Met1642Thr)
c.1628T>C (p.Met543Thr)
c.5129T>C (p.Met1710Thr)
c.1453T>C
c.1640T>C (p.Met547Thr)
c.*4849T>C (n.*4849T>C)
n.219T>C
c.1379T>C (p.Met460Thr)
c.5-3665T>C (n.5-3665T>C)
c.539T>C (p.Met180Thr)
c.-98-17426T>C (n.-98-17426T>C)
n.5202T>C
n.5243T>C
 ClinVar dbSNP gnomAD v4
17g.43067616A>TCA10591388BRCA1c.5063T>A (p.Met1688Lys)
c.5066T>A (p.Met1689Lys)
c.4940T>A (p.Met1647Lys)
c.5060T>A (p.Met1687Lys)
c.4988T>A (p.Met1663Lys)
c.1754T>A (p.Met585Lys)
c.1616T>A (p.Met539Lys)
c.4178T>A (p.Met1393Lys)
c.4943T>A (p.Met1648Lys)
c.5132T>A (p.Met1711Lys)
c.4925T>A (p.Met1642Lys)
c.1628T>A (p.Met543Lys)
c.5129T>A (p.Met1710Lys)
c.1453T>A
c.1640T>A (p.Met547Lys)
c.*4849T>A (n.*4849T>A)
n.219T>A
c.1379T>A (p.Met460Lys)
c.5-3665T>A (n.5-3665T>A)
c.539T>A (p.Met180Lys)
c.-98-17426T>A (n.-98-17426T>A)
n.5202T>A
n.5243T>A
 ClinVar dbSNP
17g.43067617T>ACA10591389BRCA1c.5062A>T (p.Met1688Leu)
c.5065A>T (p.Met1689Leu)
c.4939A>T (p.Met1647Leu)
c.5059A>T (p.Met1687Leu)
c.4987A>T (p.Met1663Leu)
c.1753A>T (p.Met585Leu)
c.1615A>T (p.Met539Leu)
c.4177A>T (p.Met1393Leu)
c.4942A>T (p.Met1648Leu)
c.5131A>T (p.Met1711Leu)
c.4924A>T (p.Met1642Leu)
c.1627A>T (p.Met543Leu)
c.5128A>T (p.Met1710Leu)
c.1452A>T
c.1639A>T (p.Met547Leu)
c.*4848A>T (n.*4848A>T)
n.218A>T
c.1378A>T (p.Met460Leu)
c.5-3666A>T (n.5-3666A>T)
c.538A>T (p.Met180Leu)
c.-98-17427A>T (n.-98-17427A>T)
n.5201A>T
n.5242A>T
 ClinVar dbSNP
17g.43067617T>CCA10591390BRCA1c.5062A>G (p.Met1688Val)
c.5065A>G (p.Met1689Val)
c.4939A>G (p.Met1647Val)
c.5059A>G (p.Met1687Val)
c.4987A>G (p.Met1663Val)
c.1753A>G (p.Met585Val)
c.1615A>G (p.Met539Val)
c.4177A>G (p.Met1393Val)
c.4942A>G (p.Met1648Val)
c.5131A>G (p.Met1711Val)
c.4924A>G (p.Met1642Val)
c.1627A>G (p.Met543Val)
c.5128A>G (p.Met1710Val)
c.1452A>G
c.1639A>G (p.Met547Val)
c.*4848A>G (n.*4848A>G)
n.218A>G
c.1378A>G (p.Met460Val)
c.5-3666A>G (n.5-3666A>G)
c.538A>G (p.Met180Val)
c.-98-17427A>G (n.-98-17427A>G)
n.5201A>G
n.5242A>G
 ClinVar dbSNP
17g.43067617T>GCA10591391BRCA1c.5062A>C (p.Met1688Leu)
c.5065A>C (p.Met1689Leu)
c.4939A>C (p.Met1647Leu)
c.5059A>C (p.Met1687Leu)
c.4987A>C (p.Met1663Leu)
c.1753A>C (p.Met585Leu)
c.1615A>C (p.Met539Leu)
c.4177A>C (p.Met1393Leu)
c.4942A>C (p.Met1648Leu)
c.5131A>C (p.Met1711Leu)
c.4924A>C (p.Met1642Leu)
c.1627A>C (p.Met543Leu)
c.5128A>C (p.Met1710Leu)
c.1452A>C
c.1639A>C (p.Met547Leu)
c.*4848A>C (n.*4848A>C)
n.218A>C
c.1378A>C (p.Met460Leu)
c.5-3666A>C (n.5-3666A>C)
c.538A>C (p.Met180Leu)
c.-98-17427A>C (n.-98-17427A>C)
n.5201A>C
n.5242A>C
 ClinVar dbSNP
17g.43067617T=CA2260771319BRCA1c.5062A= (p.Met1688=)
c.5065A= (p.Met1689=)
c.4939A= (p.Met1647=)
c.5059A= (p.Met1687=)
c.4987A= (p.Met1663=)
c.1753A= (p.Met585=)
c.1615A= (p.Met539=)
c.4177A= (p.Met1393=)
c.4942A= (p.Met1648=)
c.5131A= (p.Met1711=)
c.4924A= (p.Met1642=)
c.1627A= (p.Met543=)
c.5128A= (p.Met1710=)
c.1452A=
c.1639A= (p.Met547=)
c.*4848A= (n.*4848A=)
n.218A=
c.1378A= (p.Met460=)
c.5-3666A= (n.5-3666A=)
c.538A= (p.Met180=)
c.-98-17427A= (n.-98-17427A=)
n.5201A=
n.5242A=
17g.43067617dupCA10589622BRCA1c.5062dup (p.Met1688AsnfsTer6)
c.5065dup (p.Met1689AsnfsTer6)
c.4939dup (p.Met1647AsnfsTer6)
c.5059dup (p.Met1687AsnfsTer6)
c.4987dup (p.Met1663AsnfsTer6)
c.1753dup (p.Met585AsnfsTer6)
c.1615dup (p.Met539AsnfsTer6)
c.4177dup (p.Met1393AsnfsTer6)
c.4942dup (p.Met1648AsnfsTer6)
c.5131dup (p.Met1711AsnfsTer6)
c.4924dup (p.Met1642AsnfsTer6)
c.1627dup (p.Met543AsnfsTer6)
c.5128dup (p.Met1710AsnfsTer6)
c.1452dup
c.1639dup (p.Met547AsnfsTer6)
c.*4848dup (n.*4848dup)
n.218dup
c.1378dup (p.Met460AsnfsTer6)
c.5-3666dup (n.5-3666dup)
c.538dup (p.Met180AsnfsTer6)
c.-98-17427dup (n.-98-17427dup)
n.5201dup
n.5242dup
 ClinVar dbSNP
17g.43067617_43067620delinsTAACCA2260771318BRCA1c.5059_5062delinsGTTA (p.Val1687=)
c.5062_5065delinsGTTA (p.Val1688=)
c.4936_4939delinsGTTA (p.Val1646=)
c.5056_5059delinsGTTA (p.Val1686=)
c.4984_4987delinsGTTA (p.Val1662=)
c.1750_1753delinsGTTA (p.Val584=)
c.1612_1615delinsGTTA (p.Val538=)
c.4174_4177delinsGTTA (p.Val1392=)
c.4939_4942delinsGTTA (p.Val1647=)
c.5128_5131delinsGTTA (p.Val1710=)
c.4921_4924delinsGTTA (p.Val1641=)
c.1624_1627delinsGTTA (p.Val542=)
c.5125_5128delinsGTTA (p.Val1709=)
c.1449_1452delinsGTTA
c.1636_1639delinsGTTA (p.Val546=)
c.*4845_*4848delinsGTTA (n.*4845_*4848delinsGTTA)
n.215_218delinsGTTA
c.1375_1378delinsGTTA (p.Val459=)
c.5-3669_5-3666delinsGTTA (n.5-3669_5-3666delinsGTTA)
c.535_538delinsGTTA (p.Val179=)
c.-98-17430_-98-17427delinsGTTA (n.-98-17430_-98-17427delinsGTTA)
n.5198_5201delinsGTTA
n.5239_5242delinsGTTA
17g.43067618A=CA2260771320BRCA1c.5061T= (p.Val1687=)
c.5064T= (p.Val1688=)
c.4938T= (p.Val1646=)
c.5058T= (p.Val1686=)
c.4986T= (p.Val1662=)
c.1752T= (p.Val584=)
c.1614T= (p.Val538=)
c.4176T= (p.Val1392=)
c.4941T= (p.Val1647=)
c.5130T= (p.Val1710=)
c.4923T= (p.Val1641=)
c.1626T= (p.Val542=)
c.5127T= (p.Val1709=)
c.1451T=
c.1638T= (p.Val546=)
c.*4847T= (n.*4847T=)
n.217T=
c.1377T= (p.Val459=)
c.5-3667T= (n.5-3667T=)
c.537T= (p.Val179=)
c.-98-17428T= (n.-98-17428T=)
n.5200T=
n.5241T=
17g.43067618A>CCA500146305BRCA1c.5061T>G (p.Val1687=)
c.5064T>G (p.Val1688=)
c.4938T>G (p.Val1646=)
c.5058T>G (p.Val1686=)
c.4986T>G (p.Val1662=)
c.1752T>G (p.Val584=)
c.1614T>G (p.Val538=)
c.4176T>G (p.Val1392=)
c.4941T>G (p.Val1647=)
c.5130T>G (p.Val1710=)
c.4923T>G (p.Val1641=)
c.1626T>G (p.Val542=)
c.5127T>G (p.Val1709=)
c.1451T>G
c.1638T>G (p.Val546=)
c.*4847T>G (n.*4847T>G)
n.217T>G
c.1377T>G (p.Val459=)
c.5-3667T>G (n.5-3667T>G)
c.537T>G (p.Val179=)
c.-98-17428T>G (n.-98-17428T>G)
n.5200T>G
n.5241T>G
 ClinVar dbSNP
17g.43067618A>GCA500146306BRCA1c.5061T>C (p.Val1687=)
c.5064T>C (p.Val1688=)
c.4938T>C (p.Val1646=)
c.5058T>C (p.Val1686=)
c.4986T>C (p.Val1662=)
c.1752T>C (p.Val584=)
c.1614T>C (p.Val538=)
c.4176T>C (p.Val1392=)
c.4941T>C (p.Val1647=)
c.5130T>C (p.Val1710=)
c.4923T>C (p.Val1641=)
c.1626T>C (p.Val542=)
c.5127T>C (p.Val1709=)
c.1451T>C
c.1638T>C (p.Val546=)
c.*4847T>C (n.*4847T>C)
n.217T>C
c.1377T>C (p.Val459=)
c.5-3667T>C (n.5-3667T>C)
c.537T>C (p.Val179=)
c.-98-17428T>C (n.-98-17428T>C)
n.5200T>C
n.5241T>C
 ClinVar dbSNP gnomAD v4
17g.43067618A>TCA500146307BRCA1c.5061T>A (p.Val1687=)
c.5064T>A (p.Val1688=)
c.4938T>A (p.Val1646=)
c.5058T>A (p.Val1686=)
c.4986T>A (p.Val1662=)
c.1752T>A (p.Val584=)
c.1614T>A (p.Val538=)
c.4176T>A (p.Val1392=)
c.4941T>A (p.Val1647=)
c.5130T>A (p.Val1710=)
c.4923T>A (p.Val1641=)
c.1626T>A (p.Val542=)
c.5127T>A (p.Val1709=)
c.1451T>A
c.1638T>A (p.Val546=)
c.*4847T>A (n.*4847T>A)
n.217T>A
c.1377T>A (p.Val459=)
c.5-3667T>A (n.5-3667T>A)
c.537T>A (p.Val179=)
c.-98-17428T>A (n.-98-17428T>A)
n.5200T>A
n.5241T>A
 ClinVar dbSNP
17g.43067622_43067624dupCA2580612634BRCA1c.5059_5061dup (p.Val1687_Met1688insVal)
c.5062_5064dup (p.Val1688_Met1689insVal)
c.4936_4938dup (p.Val1646_Met1647insVal)
c.5056_5058dup (p.Val1686_Met1687insVal)
c.4984_4986dup (p.Val1662_Met1663insVal)
c.1750_1752dup (p.Val584_Met585insVal)
c.1612_1614dup (p.Val538_Met539insVal)
c.4174_4176dup (p.Val1392_Met1393insVal)
c.4939_4941dup (p.Val1647_Met1648insVal)
c.5128_5130dup (p.Val1710_Met1711insVal)
c.4921_4923dup (p.Val1641_Met1642insVal)
c.1624_1626dup (p.Val542_Met543insVal)
c.5125_5127dup (p.Val1709_Met1710insVal)
c.1449_1451dup
c.1636_1638dup (p.Val546_Met547insVal)
c.*4845_*4847dup (n.*4845_*4847dup)
n.215_217dup
c.1375_1377dup (p.Val459_Met460insVal)
c.5-3669_5-3667dup (n.5-3669_5-3667dup)
c.535_537dup (p.Val179_Met180insVal)
c.-98-17430_-98-17428dup (n.-98-17430_-98-17428dup)
n.5198_5200dup
n.5239_5241dup
 ClinVar dbSNP
17g.43067622_43067624delCA003180BRCA1c.5059_5061del (p.Val1687del)
c.5062_5064del (p.Val1688del)
c.4936_4938del (p.Val1646del)
c.5056_5058del (p.Val1686del)
c.4984_4986del (p.Val1662del)
c.1750_1752del (p.Val584del)
c.1612_1614del (p.Val538del)
c.4174_4176del (p.Val1392del)
c.4939_4941del (p.Val1647del)
c.5128_5130del (p.Val1710del)
c.4921_4923del (p.Val1641del)
c.1624_1626del (p.Val542del)
c.5125_5127del (p.Val1709del)
c.1449_1451del
c.1636_1638del (p.Val546del)
c.*4845_*4847del (n.*4845_*4847del)
n.215_217del
c.1375_1377del (p.Val459del)
c.5-3669_5-3667del (n.5-3669_5-3667del)
c.535_537del (p.Val179del)
c.-98-17430_-98-17428del (n.-98-17430_-98-17428del)
n.5198_5200del
n.5239_5241del
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43067619A=CA2260771321BRCA1c.5060T= (p.Val1687=)
c.5063T= (p.Val1688=)
c.4937T= (p.Val1646=)
c.5057T= (p.Val1686=)
c.4985T= (p.Val1662=)
c.1751T= (p.Val584=)
c.1613T= (p.Val538=)
c.4175T= (p.Val1392=)
c.4940T= (p.Val1647=)
c.5129T= (p.Val1710=)
c.4922T= (p.Val1641=)
c.1625T= (p.Val542=)
c.5126T= (p.Val1709=)
c.1450T=
c.1637T= (p.Val546=)
c.*4846T= (n.*4846T=)
n.216T=
c.1376T= (p.Val459=)
c.5-3668T= (n.5-3668T=)
c.536T= (p.Val179=)
c.-98-17429T= (n.-98-17429T=)
n.5199T=
n.5240T=
17g.43067619A>CCA10591392BRCA1c.5060T>G (p.Val1687Gly)
c.5063T>G (p.Val1688Gly)
c.4937T>G (p.Val1646Gly)
c.5057T>G (p.Val1686Gly)
c.4985T>G (p.Val1662Gly)
c.1751T>G (p.Val584Gly)
c.1613T>G (p.Val538Gly)
c.4175T>G (p.Val1392Gly)
c.4940T>G (p.Val1647Gly)
c.5129T>G (p.Val1710Gly)
c.4922T>G (p.Val1641Gly)
c.1625T>G (p.Val542Gly)
c.5126T>G (p.Val1709Gly)
c.1450T>G
c.1637T>G (p.Val546Gly)
c.*4846T>G (n.*4846T>G)
n.216T>G
c.1376T>G (p.Val459Gly)
c.5-3668T>G (n.5-3668T>G)
c.536T>G (p.Val179Gly)
c.-98-17429T>G (n.-98-17429T>G)
n.5199T>G
n.5240T>G
 ClinVar dbSNP
17g.43067619A>GCA10591393BRCA1c.5060T>C (p.Val1687Ala)
c.5063T>C (p.Val1688Ala)
c.4937T>C (p.Val1646Ala)
c.5057T>C (p.Val1686Ala)
c.4985T>C (p.Val1662Ala)
c.1751T>C (p.Val584Ala)
c.1613T>C (p.Val538Ala)
c.4175T>C (p.Val1392Ala)
c.4940T>C (p.Val1647Ala)
c.5129T>C (p.Val1710Ala)
c.4922T>C (p.Val1641Ala)
c.1625T>C (p.Val542Ala)
c.5126T>C (p.Val1709Ala)
c.1450T>C
c.1637T>C (p.Val546Ala)
c.*4846T>C (n.*4846T>C)
n.216T>C
c.1376T>C (p.Val459Ala)
c.5-3668T>C (n.5-3668T>C)
c.536T>C (p.Val179Ala)
c.-98-17429T>C (n.-98-17429T>C)
n.5199T>C
n.5240T>C
 ClinVar dbSNP
17g.43067619A>TCA10591394BRCA1c.5060T>A (p.Val1687Asp)
c.5063T>A (p.Val1688Asp)
c.4937T>A (p.Val1646Asp)
c.5057T>A (p.Val1686Asp)
c.4985T>A (p.Val1662Asp)
c.1751T>A (p.Val584Asp)
c.1613T>A (p.Val538Asp)
c.4175T>A (p.Val1392Asp)
c.4940T>A (p.Val1647Asp)
c.5129T>A (p.Val1710Asp)
c.4922T>A (p.Val1641Asp)
c.1625T>A (p.Val542Asp)
c.5126T>A (p.Val1709Asp)
c.1450T>A
c.1637T>A (p.Val546Asp)
c.*4846T>A (n.*4846T>A)
n.216T>A
c.1376T>A (p.Val459Asp)
c.5-3668T>A (n.5-3668T>A)
c.536T>A (p.Val179Asp)
c.-98-17429T>A (n.-98-17429T>A)
n.5199T>A
n.5240T>A
 ClinVar dbSNP
17g.43067620C>ACA10591395BRCA1c.5059G>T (p.Val1687Phe)
c.5062G>T (p.Val1688Phe)
c.4936G>T (p.Val1646Phe)
c.5056G>T (p.Val1686Phe)
c.4984G>T (p.Val1662Phe)
c.1750G>T (p.Val584Phe)
c.1612G>T (p.Val538Phe)
c.4174G>T (p.Val1392Phe)
c.4939G>T (p.Val1647Phe)
c.5128G>T (p.Val1710Phe)
c.4921G>T (p.Val1641Phe)
c.1624G>T (p.Val542Phe)
c.5125G>T (p.Val1709Phe)
c.1449G>T
c.1636G>T (p.Val546Phe)
c.*4845G>T (n.*4845G>T)
n.215G>T
c.1375G>T (p.Val459Phe)
c.5-3669G>T (n.5-3669G>T)
c.535G>T (p.Val179Phe)
c.-98-17430G>T (n.-98-17430G>T)
n.5198G>T
n.5239G>T
 ClinVar dbSNP
17g.43067620C=CA2260771322BRCA1c.5059G= (p.Val1687=)
c.5062G= (p.Val1688=)
c.4936G= (p.Val1646=)
c.5056G= (p.Val1686=)
c.4984G= (p.Val1662=)
c.1750G= (p.Val584=)
c.1612G= (p.Val538=)
c.4174G= (p.Val1392=)
c.4939G= (p.Val1647=)
c.5128G= (p.Val1710=)
c.4921G= (p.Val1641=)
c.1624G= (p.Val542=)
c.5125G= (p.Val1709=)
c.1449G=
c.1636G= (p.Val546=)
c.*4845G= (n.*4845G=)
n.215G=
c.1375G= (p.Val459=)
c.5-3669G= (n.5-3669G=)
c.535G= (p.Val179=)
c.-98-17430G= (n.-98-17430G=)
n.5198G=
n.5239G=
17g.43067620C>GCA10591396BRCA1c.5059G>C (p.Val1687Leu)
c.5062G>C (p.Val1688Leu)
c.4936G>C (p.Val1646Leu)
c.5056G>C (p.Val1686Leu)
c.4984G>C (p.Val1662Leu)
c.1750G>C (p.Val584Leu)
c.1612G>C (p.Val538Leu)
c.4174G>C (p.Val1392Leu)
c.4939G>C (p.Val1647Leu)
c.5128G>C (p.Val1710Leu)
c.4921G>C (p.Val1641Leu)
c.1624G>C (p.Val542Leu)
c.5125G>C (p.Val1709Leu)
c.1449G>C
c.1636G>C (p.Val546Leu)
c.*4845G>C (n.*4845G>C)
n.215G>C
c.1375G>C (p.Val459Leu)
c.5-3669G>C (n.5-3669G>C)
c.535G>C (p.Val179Leu)
c.-98-17430G>C (n.-98-17430G>C)
n.5198G>C
n.5239G>C
 ClinVar dbSNP
17g.43067620C>TCA10591397BRCA1c.5059G>A (p.Val1687Ile)
c.5062G>A (p.Val1688Ile)
c.4936G>A (p.Val1646Ile)
c.5056G>A (p.Val1686Ile)
c.4984G>A (p.Val1662Ile)
c.1750G>A (p.Val584Ile)
c.1612G>A (p.Val538Ile)
c.4174G>A (p.Val1392Ile)
c.4939G>A (p.Val1647Ile)
c.5128G>A (p.Val1710Ile)
c.4921G>A (p.Val1641Ile)
c.1624G>A (p.Val542Ile)
c.5125G>A (p.Val1709Ile)
c.1449G>A
c.1636G>A (p.Val546Ile)
c.*4845G>A (n.*4845G>A)
n.215G>A
c.1375G>A (p.Val459Ile)
c.5-3669G>A (n.5-3669G>A)
c.535G>A (p.Val179Ile)
c.-98-17430G>A (n.-98-17430G>A)
n.5198G>A
n.5239G>A
 ClinVar dbSNP
17g.43067621A=CA2260771323BRCA1c.5058T= (p.Val1686=)
c.5061T= (p.Val1687=)
c.4935T= (p.Val1645=)
c.5055T= (p.Val1685=)
c.4983T= (p.Val1661=)
c.1749T= (p.Val583=)
c.1611T= (p.Val537=)
c.4173T= (p.Val1391=)
c.4938T= (p.Val1646=)
c.5127T= (p.Val1709=)
c.4920T= (p.Val1640=)
c.1623T= (p.Val541=)
c.5124T= (p.Val1708=)
c.1448T=
c.1635T= (p.Val545=)
c.*4844T= (n.*4844T=)
n.214T=
c.1374T= (p.Val458=)
c.5-3670T= (n.5-3670T=)
c.534T= (p.Val178=)
c.-98-17431T= (n.-98-17431T=)
n.5197T=
n.5238T=
17g.43067621A>CCA500146309BRCA1c.5058T>G (p.Val1686=)
c.5061T>G (p.Val1687=)
c.4935T>G (p.Val1645=)
c.5055T>G (p.Val1685=)
c.4983T>G (p.Val1661=)
c.1749T>G (p.Val583=)
c.1611T>G (p.Val537=)
c.4173T>G (p.Val1391=)
c.4938T>G (p.Val1646=)
c.5127T>G (p.Val1709=)
c.4920T>G (p.Val1640=)
c.1623T>G (p.Val541=)
c.5124T>G (p.Val1708=)
c.1448T>G
c.1635T>G (p.Val545=)
c.*4844T>G (n.*4844T>G)
n.214T>G
c.1374T>G (p.Val458=)
c.5-3670T>G (n.5-3670T>G)
c.534T>G (p.Val178=)
c.-98-17431T>G (n.-98-17431T>G)
n.5197T>G
n.5238T>G
 ClinVar dbSNP

Number of alleles fetched