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.43067598C>ACA916080143BRCA1c.5071+10G>T (n.5071+10G>T)
c.5074+10G>T (n.5074+10G>T)
c.4948+10G>T (n.4948+10G>T)
c.5068+10G>T (n.5068+10G>T)
c.4996+10G>T (n.4996+10G>T)
c.1762+10G>T (n.1762+10G>T)
c.1624+10G>T (n.1624+10G>T)
c.4186+10G>T (n.4186+10G>T)
c.4951+10G>T (n.4951+10G>T)
c.5140+10G>T (n.5140+10G>T)
c.4933+10G>T (n.4933+10G>T)
c.1636+10G>T (n.1636+10G>T)
c.5137+10G>T (n.5137+10G>T)
c.1461+10G>T
c.1648+10G>T (n.1648+10G>T)
c.*4857+10G>T (n.*4857+10G>T)
n.237G>T
c.1387+10G>T (n.1387+10G>T)
c.5-3647G>T (n.5-3647G>T)
c.547+10G>T (n.547+10G>T)
c.-98-17408G>T (n.-98-17408G>T)
n.5210+10G>T
n.5251+10G>T
 ClinVar dbSNP
17g.43067598C=CA2260771298BRCA1c.5071+10G= (n.5071+10G=)
c.5074+10G= (n.5074+10G=)
c.4948+10G= (n.4948+10G=)
c.5068+10G= (n.5068+10G=)
c.4996+10G= (n.4996+10G=)
c.1762+10G= (n.1762+10G=)
c.1624+10G= (n.1624+10G=)
c.4186+10G= (n.4186+10G=)
c.4951+10G= (n.4951+10G=)
c.5140+10G= (n.5140+10G=)
c.4933+10G= (n.4933+10G=)
c.1636+10G= (n.1636+10G=)
c.5137+10G= (n.5137+10G=)
c.1461+10G=
c.1648+10G= (n.1648+10G=)
c.*4857+10G= (n.*4857+10G=)
n.237G=
c.1387+10G= (n.1387+10G=)
c.5-3647G= (n.5-3647G=)
c.547+10G= (n.547+10G=)
c.-98-17408G= (n.-98-17408G=)
n.5210+10G=
n.5251+10G=
17g.43067598C>GCA916080142BRCA1c.5071+10G>C (n.5071+10G>C)
c.5074+10G>C (n.5074+10G>C)
c.4948+10G>C (n.4948+10G>C)
c.5068+10G>C (n.5068+10G>C)
c.4996+10G>C (n.4996+10G>C)
c.1762+10G>C (n.1762+10G>C)
c.1624+10G>C (n.1624+10G>C)
c.4186+10G>C (n.4186+10G>C)
c.4951+10G>C (n.4951+10G>C)
c.5140+10G>C (n.5140+10G>C)
c.4933+10G>C (n.4933+10G>C)
c.1636+10G>C (n.1636+10G>C)
c.5137+10G>C (n.5137+10G>C)
c.1461+10G>C
c.1648+10G>C (n.1648+10G>C)
c.*4857+10G>C (n.*4857+10G>C)
n.237G>C
c.1387+10G>C (n.1387+10G>C)
c.5-3647G>C (n.5-3647G>C)
c.547+10G>C (n.547+10G>C)
c.-98-17408G>C (n.-98-17408G>C)
n.5210+10G>C
n.5251+10G>C
 ClinVar dbSNP gnomAD v4
17g.43067598C>TCA053774BRCA1c.5071+10G>A (n.5071+10G>A)
c.5074+10G>A (n.5074+10G>A)
c.4948+10G>A (n.4948+10G>A)
c.5068+10G>A (n.5068+10G>A)
c.4996+10G>A (n.4996+10G>A)
c.1762+10G>A (n.1762+10G>A)
c.1624+10G>A (n.1624+10G>A)
c.4186+10G>A (n.4186+10G>A)
c.4951+10G>A (n.4951+10G>A)
c.5140+10G>A (n.5140+10G>A)
c.4933+10G>A (n.4933+10G>A)
c.1636+10G>A (n.1636+10G>A)
c.5137+10G>A (n.5137+10G>A)
c.1461+10G>A
c.1648+10G>A (n.1648+10G>A)
c.*4857+10G>A (n.*4857+10G>A)
n.237G>A
c.1387+10G>A (n.1387+10G>A)
c.5-3647G>A (n.5-3647G>A)
c.547+10G>A (n.547+10G>A)
c.-98-17408G>A (n.-98-17408G>A)
n.5210+10G>A
n.5251+10G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43067599T>ACA916080146BRCA1c.5071+9A>T (n.5071+9A>T)
c.5074+9A>T (n.5074+9A>T)
c.4948+9A>T (n.4948+9A>T)
c.5068+9A>T (n.5068+9A>T)
c.4996+9A>T (n.4996+9A>T)
c.1762+9A>T (n.1762+9A>T)
c.1624+9A>T (n.1624+9A>T)
c.4186+9A>T (n.4186+9A>T)
c.4951+9A>T (n.4951+9A>T)
c.5140+9A>T (n.5140+9A>T)
c.4933+9A>T (n.4933+9A>T)
c.1636+9A>T (n.1636+9A>T)
c.5137+9A>T (n.5137+9A>T)
c.1461+9A>T
c.1648+9A>T (n.1648+9A>T)
c.*4857+9A>T (n.*4857+9A>T)
n.236A>T
c.1387+9A>T (n.1387+9A>T)
c.5-3648A>T (n.5-3648A>T)
c.547+9A>T (n.547+9A>T)
c.-98-17409A>T (n.-98-17409A>T)
n.5210+9A>T
n.5251+9A>T
 ClinVar dbSNP
17g.43067599T>CCA916080145BRCA1c.5071+9A>G (n.5071+9A>G)
c.5074+9A>G (n.5074+9A>G)
c.4948+9A>G (n.4948+9A>G)
c.5068+9A>G (n.5068+9A>G)
c.4996+9A>G (n.4996+9A>G)
c.1762+9A>G (n.1762+9A>G)
c.1624+9A>G (n.1624+9A>G)
c.4186+9A>G (n.4186+9A>G)
c.4951+9A>G (n.4951+9A>G)
c.5140+9A>G (n.5140+9A>G)
c.4933+9A>G (n.4933+9A>G)
c.1636+9A>G (n.1636+9A>G)
c.5137+9A>G (n.5137+9A>G)
c.1461+9A>G
c.1648+9A>G (n.1648+9A>G)
c.*4857+9A>G (n.*4857+9A>G)
n.236A>G
c.1387+9A>G (n.1387+9A>G)
c.5-3648A>G (n.5-3648A>G)
c.547+9A>G (n.547+9A>G)
c.-98-17409A>G (n.-98-17409A>G)
n.5210+9A>G
n.5251+9A>G
 ClinVar dbSNP gnomAD v4
17g.43067599T>GCA916080144BRCA1c.5071+9A>C (n.5071+9A>C)
c.5074+9A>C (n.5074+9A>C)
c.4948+9A>C (n.4948+9A>C)
c.5068+9A>C (n.5068+9A>C)
c.4996+9A>C (n.4996+9A>C)
c.1762+9A>C (n.1762+9A>C)
c.1624+9A>C (n.1624+9A>C)
c.4186+9A>C (n.4186+9A>C)
c.4951+9A>C (n.4951+9A>C)
c.5140+9A>C (n.5140+9A>C)
c.4933+9A>C (n.4933+9A>C)
c.1636+9A>C (n.1636+9A>C)
c.5137+9A>C (n.5137+9A>C)
c.1461+9A>C
c.1648+9A>C (n.1648+9A>C)
c.*4857+9A>C (n.*4857+9A>C)
n.236A>C
c.1387+9A>C (n.1387+9A>C)
c.5-3648A>C (n.5-3648A>C)
c.547+9A>C (n.547+9A>C)
c.-98-17409A>C (n.-98-17409A>C)
n.5210+9A>C
n.5251+9A>C
 ClinVar dbSNP
17g.43067599T=CA2260771299BRCA1c.5071+9A= (n.5071+9A=)
c.5074+9A= (n.5074+9A=)
c.4948+9A= (n.4948+9A=)
c.5068+9A= (n.5068+9A=)
c.4996+9A= (n.4996+9A=)
c.1762+9A= (n.1762+9A=)
c.1624+9A= (n.1624+9A=)
c.4186+9A= (n.4186+9A=)
c.4951+9A= (n.4951+9A=)
c.5140+9A= (n.5140+9A=)
c.4933+9A= (n.4933+9A=)
c.1636+9A= (n.1636+9A=)
c.5137+9A= (n.5137+9A=)
c.1461+9A=
c.1648+9A= (n.1648+9A=)
c.*4857+9A= (n.*4857+9A=)
n.236A=
c.1387+9A= (n.1387+9A=)
c.5-3648A= (n.5-3648A=)
c.547+9A= (n.547+9A=)
c.-98-17409A= (n.-98-17409A=)
n.5210+9A=
n.5251+9A=
17g.43067600T>ACA916080149BRCA1c.5071+8A>T (n.5071+8A>T)
c.5074+8A>T (n.5074+8A>T)
c.4948+8A>T (n.4948+8A>T)
c.5068+8A>T (n.5068+8A>T)
c.4996+8A>T (n.4996+8A>T)
c.1762+8A>T (n.1762+8A>T)
c.1624+8A>T (n.1624+8A>T)
c.4186+8A>T (n.4186+8A>T)
c.4951+8A>T (n.4951+8A>T)
c.5140+8A>T (n.5140+8A>T)
c.4933+8A>T (n.4933+8A>T)
c.1636+8A>T (n.1636+8A>T)
c.5137+8A>T (n.5137+8A>T)
c.1461+8A>T
c.1648+8A>T (n.1648+8A>T)
c.*4857+8A>T (n.*4857+8A>T)
n.235A>T
c.1387+8A>T (n.1387+8A>T)
c.5-3649A>T (n.5-3649A>T)
c.547+8A>T (n.547+8A>T)
c.-98-17410A>T (n.-98-17410A>T)
n.5210+8A>T
n.5251+8A>T
 ClinVar dbSNP
17g.43067600T>CCA916080148BRCA1c.5071+8A>G (n.5071+8A>G)
c.5074+8A>G (n.5074+8A>G)
c.4948+8A>G (n.4948+8A>G)
c.5068+8A>G (n.5068+8A>G)
c.4996+8A>G (n.4996+8A>G)
c.1762+8A>G (n.1762+8A>G)
c.1624+8A>G (n.1624+8A>G)
c.4186+8A>G (n.4186+8A>G)
c.4951+8A>G (n.4951+8A>G)
c.5140+8A>G (n.5140+8A>G)
c.4933+8A>G (n.4933+8A>G)
c.1636+8A>G (n.1636+8A>G)
c.5137+8A>G (n.5137+8A>G)
c.1461+8A>G
c.1648+8A>G (n.1648+8A>G)
c.*4857+8A>G (n.*4857+8A>G)
n.235A>G
c.1387+8A>G (n.1387+8A>G)
c.5-3649A>G (n.5-3649A>G)
c.547+8A>G (n.547+8A>G)
c.-98-17410A>G (n.-98-17410A>G)
n.5210+8A>G
n.5251+8A>G
 ClinVar dbSNP
17g.43067600T>GCA916080147BRCA1c.5071+8A>C (n.5071+8A>C)
c.5074+8A>C (n.5074+8A>C)
c.4948+8A>C (n.4948+8A>C)
c.5068+8A>C (n.5068+8A>C)
c.4996+8A>C (n.4996+8A>C)
c.1762+8A>C (n.1762+8A>C)
c.1624+8A>C (n.1624+8A>C)
c.4186+8A>C (n.4186+8A>C)
c.4951+8A>C (n.4951+8A>C)
c.5140+8A>C (n.5140+8A>C)
c.4933+8A>C (n.4933+8A>C)
c.1636+8A>C (n.1636+8A>C)
c.5137+8A>C (n.5137+8A>C)
c.1461+8A>C
c.1648+8A>C (n.1648+8A>C)
c.*4857+8A>C (n.*4857+8A>C)
n.235A>C
c.1387+8A>C (n.1387+8A>C)
c.5-3649A>C (n.5-3649A>C)
c.547+8A>C (n.547+8A>C)
c.-98-17410A>C (n.-98-17410A>C)
n.5210+8A>C
n.5251+8A>C
 ClinVar dbSNP
17g.43067600T=CA2260771300BRCA1c.5071+8A= (n.5071+8A=)
c.5074+8A= (n.5074+8A=)
c.4948+8A= (n.4948+8A=)
c.5068+8A= (n.5068+8A=)
c.4996+8A= (n.4996+8A=)
c.1762+8A= (n.1762+8A=)
c.1624+8A= (n.1624+8A=)
c.4186+8A= (n.4186+8A=)
c.4951+8A= (n.4951+8A=)
c.5140+8A= (n.5140+8A=)
c.4933+8A= (n.4933+8A=)
c.1636+8A= (n.1636+8A=)
c.5137+8A= (n.5137+8A=)
c.1461+8A=
c.1648+8A= (n.1648+8A=)
c.*4857+8A= (n.*4857+8A=)
n.235A=
c.1387+8A= (n.1387+8A=)
c.5-3649A= (n.5-3649A=)
c.547+8A= (n.547+8A=)
c.-98-17410A= (n.-98-17410A=)
n.5210+8A=
n.5251+8A=
17g.43067601G>ACA915950091BRCA1c.5071+7C>T (n.5071+7C>T)
c.5074+7C>T (n.5074+7C>T)
c.4948+7C>T (n.4948+7C>T)
c.5068+7C>T (n.5068+7C>T)
c.4996+7C>T (n.4996+7C>T)
c.1762+7C>T (n.1762+7C>T)
c.1624+7C>T (n.1624+7C>T)
c.4186+7C>T (n.4186+7C>T)
c.4951+7C>T (n.4951+7C>T)
c.5140+7C>T (n.5140+7C>T)
c.4933+7C>T (n.4933+7C>T)
c.1636+7C>T (n.1636+7C>T)
c.5137+7C>T (n.5137+7C>T)
c.1461+7C>T
c.1648+7C>T (n.1648+7C>T)
c.*4857+7C>T (n.*4857+7C>T)
n.234C>T
c.1387+7C>T (n.1387+7C>T)
c.5-3650C>T (n.5-3650C>T)
c.547+7C>T (n.547+7C>T)
c.-98-17411C>T (n.-98-17411C>T)
n.5210+7C>T
n.5251+7C>T
 ClinVar dbSNP
17g.43067601G>CCA916080151BRCA1c.5071+7C>G (n.5071+7C>G)
c.5074+7C>G (n.5074+7C>G)
c.4948+7C>G (n.4948+7C>G)
c.5068+7C>G (n.5068+7C>G)
c.4996+7C>G (n.4996+7C>G)
c.1762+7C>G (n.1762+7C>G)
c.1624+7C>G (n.1624+7C>G)
c.4186+7C>G (n.4186+7C>G)
c.4951+7C>G (n.4951+7C>G)
c.5140+7C>G (n.5140+7C>G)
c.4933+7C>G (n.4933+7C>G)
c.1636+7C>G (n.1636+7C>G)
c.5137+7C>G (n.5137+7C>G)
c.1461+7C>G
c.1648+7C>G (n.1648+7C>G)
c.*4857+7C>G (n.*4857+7C>G)
n.234C>G
c.1387+7C>G (n.1387+7C>G)
c.5-3650C>G (n.5-3650C>G)
c.547+7C>G (n.547+7C>G)
c.-98-17411C>G (n.-98-17411C>G)
n.5210+7C>G
n.5251+7C>G
 ClinVar dbSNP
17g.43067601G=CA2260771301BRCA1c.5071+7C= (n.5071+7C=)
c.5074+7C= (n.5074+7C=)
c.4948+7C= (n.4948+7C=)
c.5068+7C= (n.5068+7C=)
c.4996+7C= (n.4996+7C=)
c.1762+7C= (n.1762+7C=)
c.1624+7C= (n.1624+7C=)
c.4186+7C= (n.4186+7C=)
c.4951+7C= (n.4951+7C=)
c.5140+7C= (n.5140+7C=)
c.4933+7C= (n.4933+7C=)
c.1636+7C= (n.1636+7C=)
c.5137+7C= (n.5137+7C=)
c.1461+7C=
c.1648+7C= (n.1648+7C=)
c.*4857+7C= (n.*4857+7C=)
n.234C=
c.1387+7C= (n.1387+7C=)
c.5-3650C= (n.5-3650C=)
c.547+7C= (n.547+7C=)
c.-98-17411C= (n.-98-17411C=)
n.5210+7C=
n.5251+7C=
17g.43067601G>TCA916080152BRCA1c.5071+7C>A (n.5071+7C>A)
c.5074+7C>A (n.5074+7C>A)
c.4948+7C>A (n.4948+7C>A)
c.5068+7C>A (n.5068+7C>A)
c.4996+7C>A (n.4996+7C>A)
c.1762+7C>A (n.1762+7C>A)
c.1624+7C>A (n.1624+7C>A)
c.4186+7C>A (n.4186+7C>A)
c.4951+7C>A (n.4951+7C>A)
c.5140+7C>A (n.5140+7C>A)
c.4933+7C>A (n.4933+7C>A)
c.1636+7C>A (n.1636+7C>A)
c.5137+7C>A (n.5137+7C>A)
c.1461+7C>A
c.1648+7C>A (n.1648+7C>A)
c.*4857+7C>A (n.*4857+7C>A)
n.234C>A
c.1387+7C>A (n.1387+7C>A)
c.5-3650C>A (n.5-3650C>A)
c.547+7C>A (n.547+7C>A)
c.-98-17411C>A (n.-98-17411C>A)
n.5210+7C>A
n.5251+7C>A
 ClinVar dbSNP gnomAD v4
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.43067602G>ACA916080154BRCA1c.5071+6C>T (n.5071+6C>T)
c.5074+6C>T (n.5074+6C>T)
c.4948+6C>T (n.4948+6C>T)
c.5068+6C>T (n.5068+6C>T)
c.4996+6C>T (n.4996+6C>T)
c.1762+6C>T (n.1762+6C>T)
c.1624+6C>T (n.1624+6C>T)
c.4186+6C>T (n.4186+6C>T)
c.4951+6C>T (n.4951+6C>T)
c.5140+6C>T (n.5140+6C>T)
c.4933+6C>T (n.4933+6C>T)
c.1636+6C>T (n.1636+6C>T)
c.5137+6C>T (n.5137+6C>T)
c.1461+6C>T
c.1648+6C>T (n.1648+6C>T)
c.*4857+6C>T (n.*4857+6C>T)
n.233C>T
c.1387+6C>T (n.1387+6C>T)
c.5-3651C>T (n.5-3651C>T)
c.547+6C>T (n.547+6C>T)
c.-98-17412C>T (n.-98-17412C>T)
n.5210+6C>T
n.5251+6C>T
 ClinVar dbSNP
17g.43067602G>CCA003200BRCA1c.5071+6C>G (n.5071+6C>G)
c.5074+6C>G (n.5074+6C>G)
c.4948+6C>G (n.4948+6C>G)
c.5068+6C>G (n.5068+6C>G)
c.4996+6C>G (n.4996+6C>G)
c.1762+6C>G (n.1762+6C>G)
c.1624+6C>G (n.1624+6C>G)
c.4186+6C>G (n.4186+6C>G)
c.4951+6C>G (n.4951+6C>G)
c.5140+6C>G (n.5140+6C>G)
c.4933+6C>G (n.4933+6C>G)
c.1636+6C>G (n.1636+6C>G)
c.5137+6C>G (n.5137+6C>G)
c.1461+6C>G
c.1648+6C>G (n.1648+6C>G)
c.*4857+6C>G (n.*4857+6C>G)
n.233C>G
c.1387+6C>G (n.1387+6C>G)
c.5-3651C>G (n.5-3651C>G)
c.547+6C>G (n.547+6C>G)
c.-98-17412C>G (n.-98-17412C>G)
n.5210+6C>G
n.5251+6C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43067602G=CA2260771302BRCA1c.5071+6C= (n.5071+6C=)
c.5074+6C= (n.5074+6C=)
c.4948+6C= (n.4948+6C=)
c.5068+6C= (n.5068+6C=)
c.4996+6C= (n.4996+6C=)
c.1762+6C= (n.1762+6C=)
c.1624+6C= (n.1624+6C=)
c.4186+6C= (n.4186+6C=)
c.4951+6C= (n.4951+6C=)
c.5140+6C= (n.5140+6C=)
c.4933+6C= (n.4933+6C=)
c.1636+6C= (n.1636+6C=)
c.5137+6C= (n.5137+6C=)
c.1461+6C=
c.1648+6C= (n.1648+6C=)
c.*4857+6C= (n.*4857+6C=)
n.233C=
c.1387+6C= (n.1387+6C=)
c.5-3651C= (n.5-3651C=)
c.547+6C= (n.547+6C=)
c.-98-17412C= (n.-98-17412C=)
n.5210+6C=
n.5251+6C=
17g.43067602G>TCA916080153BRCA1c.5071+6C>A (n.5071+6C>A)
c.5074+6C>A (n.5074+6C>A)
c.4948+6C>A (n.4948+6C>A)
c.5068+6C>A (n.5068+6C>A)
c.4996+6C>A (n.4996+6C>A)
c.1762+6C>A (n.1762+6C>A)
c.1624+6C>A (n.1624+6C>A)
c.4186+6C>A (n.4186+6C>A)
c.4951+6C>A (n.4951+6C>A)
c.5140+6C>A (n.5140+6C>A)
c.4933+6C>A (n.4933+6C>A)
c.1636+6C>A (n.1636+6C>A)
c.5137+6C>A (n.5137+6C>A)
c.1461+6C>A
c.1648+6C>A (n.1648+6C>A)
c.*4857+6C>A (n.*4857+6C>A)
n.233C>A
c.1387+6C>A (n.1387+6C>A)
c.5-3651C>A (n.5-3651C>A)
c.547+6C>A (n.547+6C>A)
c.-98-17412C>A (n.-98-17412C>A)
n.5210+6C>A
n.5251+6C>A
 ClinVar dbSNP
17g.43067603T>ACA003198BRCA1c.5071+5A>T (n.5071+5A>T)
c.5074+5A>T (n.5074+5A>T)
c.4948+5A>T (n.4948+5A>T)
c.5068+5A>T (n.5068+5A>T)
c.4996+5A>T (n.4996+5A>T)
c.1762+5A>T (n.1762+5A>T)
c.1624+5A>T (n.1624+5A>T)
c.4186+5A>T (n.4186+5A>T)
c.4951+5A>T (n.4951+5A>T)
c.5140+5A>T (n.5140+5A>T)
c.4933+5A>T (n.4933+5A>T)
c.1636+5A>T (n.1636+5A>T)
c.5137+5A>T (n.5137+5A>T)
c.1461+5A>T
c.1648+5A>T (n.1648+5A>T)
c.*4857+5A>T (n.*4857+5A>T)
n.232A>T
c.1387+5A>T (n.1387+5A>T)
c.5-3652A>T (n.5-3652A>T)
c.547+5A>T (n.547+5A>T)
c.-98-17413A>T (n.-98-17413A>T)
n.5210+5A>T
n.5251+5A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43067603T>CCA053821BRCA1c.5071+5A>G (n.5071+5A>G)
c.5074+5A>G (n.5074+5A>G)
c.4948+5A>G (n.4948+5A>G)
c.5068+5A>G (n.5068+5A>G)
c.4996+5A>G (n.4996+5A>G)
c.1762+5A>G (n.1762+5A>G)
c.1624+5A>G (n.1624+5A>G)
c.4186+5A>G (n.4186+5A>G)
c.4951+5A>G (n.4951+5A>G)
c.5140+5A>G (n.5140+5A>G)
c.4933+5A>G (n.4933+5A>G)
c.1636+5A>G (n.1636+5A>G)
c.5137+5A>G (n.5137+5A>G)
c.1461+5A>G
c.1648+5A>G (n.1648+5A>G)
c.*4857+5A>G (n.*4857+5A>G)
n.232A>G
c.1387+5A>G (n.1387+5A>G)
c.5-3652A>G (n.5-3652A>G)
c.547+5A>G (n.547+5A>G)
c.-98-17413A>G (n.-98-17413A>G)
n.5210+5A>G
n.5251+5A>G
 ClinVar dbSNP ExAC gnomAD v2
17g.43067603T>GCA916080155BRCA1c.5071+5A>C (n.5071+5A>C)
c.5074+5A>C (n.5074+5A>C)
c.4948+5A>C (n.4948+5A>C)
c.5068+5A>C (n.5068+5A>C)
c.4996+5A>C (n.4996+5A>C)
c.1762+5A>C (n.1762+5A>C)
c.1624+5A>C (n.1624+5A>C)
c.4186+5A>C (n.4186+5A>C)
c.4951+5A>C (n.4951+5A>C)
c.5140+5A>C (n.5140+5A>C)
c.4933+5A>C (n.4933+5A>C)
c.1636+5A>C (n.1636+5A>C)
c.5137+5A>C (n.5137+5A>C)
c.1461+5A>C
c.1648+5A>C (n.1648+5A>C)
c.*4857+5A>C (n.*4857+5A>C)
n.232A>C
c.1387+5A>C (n.1387+5A>C)
c.5-3652A>C (n.5-3652A>C)
c.547+5A>C (n.547+5A>C)
c.-98-17413A>C (n.-98-17413A>C)
n.5210+5A>C
n.5251+5A>C
 ClinVar dbSNP
17g.43067603T=CA2260771303BRCA1c.5071+5A= (n.5071+5A=)
c.5074+5A= (n.5074+5A=)
c.4948+5A= (n.4948+5A=)
c.5068+5A= (n.5068+5A=)
c.4996+5A= (n.4996+5A=)
c.1762+5A= (n.1762+5A=)
c.1624+5A= (n.1624+5A=)
c.4186+5A= (n.4186+5A=)
c.4951+5A= (n.4951+5A=)
c.5140+5A= (n.5140+5A=)
c.4933+5A= (n.4933+5A=)
c.1636+5A= (n.1636+5A=)
c.5137+5A= (n.5137+5A=)
c.1461+5A=
c.1648+5A= (n.1648+5A=)
c.*4857+5A= (n.*4857+5A=)
n.232A=
c.1387+5A= (n.1387+5A=)
c.5-3652A= (n.5-3652A=)
c.547+5A= (n.547+5A=)
c.-98-17413A= (n.-98-17413A=)
n.5210+5A=
n.5251+5A=
17g.43067604A=CA2260771304BRCA1c.5071+4T= (n.5071+4T=)
c.5074+4T= (n.5074+4T=)
c.4948+4T= (n.4948+4T=)
c.5068+4T= (n.5068+4T=)
c.4996+4T= (n.4996+4T=)
c.1762+4T= (n.1762+4T=)
c.1624+4T= (n.1624+4T=)
c.4186+4T= (n.4186+4T=)
c.4951+4T= (n.4951+4T=)
c.5140+4T= (n.5140+4T=)
c.4933+4T= (n.4933+4T=)
c.1636+4T= (n.1636+4T=)
c.5137+4T= (n.5137+4T=)
c.1461+4T=
c.1648+4T= (n.1648+4T=)
c.*4857+4T= (n.*4857+4T=)
n.231T=
c.1387+4T= (n.1387+4T=)
c.5-3653T= (n.5-3653T=)
c.547+4T= (n.547+4T=)
c.-98-17414T= (n.-98-17414T=)
n.5210+4T=
n.5251+4T=
17g.43067604A>CCA916080156BRCA1c.5071+4T>G (n.5071+4T>G)
c.5074+4T>G (n.5074+4T>G)
c.4948+4T>G (n.4948+4T>G)
c.5068+4T>G (n.5068+4T>G)
c.4996+4T>G (n.4996+4T>G)
c.1762+4T>G (n.1762+4T>G)
c.1624+4T>G (n.1624+4T>G)
c.4186+4T>G (n.4186+4T>G)
c.4951+4T>G (n.4951+4T>G)
c.5140+4T>G (n.5140+4T>G)
c.4933+4T>G (n.4933+4T>G)
c.1636+4T>G (n.1636+4T>G)
c.5137+4T>G (n.5137+4T>G)
c.1461+4T>G
c.1648+4T>G (n.1648+4T>G)
c.*4857+4T>G (n.*4857+4T>G)
n.231T>G
c.1387+4T>G (n.1387+4T>G)
c.5-3653T>G (n.5-3653T>G)
c.547+4T>G (n.547+4T>G)
c.-98-17414T>G (n.-98-17414T>G)
n.5210+4T>G
n.5251+4T>G
 ClinVar dbSNP gnomAD v4
17g.43067604A>GCA891844421BRCA1c.5071+4T>C (n.5071+4T>C)
c.5074+4T>C (n.5074+4T>C)
c.4948+4T>C (n.4948+4T>C)
c.5068+4T>C (n.5068+4T>C)
c.4996+4T>C (n.4996+4T>C)
c.1762+4T>C (n.1762+4T>C)
c.1624+4T>C (n.1624+4T>C)
c.4186+4T>C (n.4186+4T>C)
c.4951+4T>C (n.4951+4T>C)
c.5140+4T>C (n.5140+4T>C)
c.4933+4T>C (n.4933+4T>C)
c.1636+4T>C (n.1636+4T>C)
c.5137+4T>C (n.5137+4T>C)
c.1461+4T>C
c.1648+4T>C (n.1648+4T>C)
c.*4857+4T>C (n.*4857+4T>C)
n.231T>C
c.1387+4T>C (n.1387+4T>C)
c.5-3653T>C (n.5-3653T>C)
c.547+4T>C (n.547+4T>C)
c.-98-17414T>C (n.-98-17414T>C)
n.5210+4T>C
n.5251+4T>C
 ClinVar dbSNP
17g.43067604A>TCA916080157BRCA1c.5071+4T>A (n.5071+4T>A)
c.5074+4T>A (n.5074+4T>A)
c.4948+4T>A (n.4948+4T>A)
c.5068+4T>A (n.5068+4T>A)
c.4996+4T>A (n.4996+4T>A)
c.1762+4T>A (n.1762+4T>A)
c.1624+4T>A (n.1624+4T>A)
c.4186+4T>A (n.4186+4T>A)
c.4951+4T>A (n.4951+4T>A)
c.5140+4T>A (n.5140+4T>A)
c.4933+4T>A (n.4933+4T>A)
c.1636+4T>A (n.1636+4T>A)
c.5137+4T>A (n.5137+4T>A)
c.1461+4T>A
c.1648+4T>A (n.1648+4T>A)
c.*4857+4T>A (n.*4857+4T>A)
n.231T>A
c.1387+4T>A (n.1387+4T>A)
c.5-3653T>A (n.5-3653T>A)
c.547+4T>A (n.547+4T>A)
c.-98-17414T>A (n.-98-17414T>A)
n.5210+4T>A
n.5251+4T>A
 ClinVar dbSNP
17g.43067605T>ACA916080159BRCA1c.5071+3A>T (n.5071+3A>T)
c.5074+3A>T (n.5074+3A>T)
c.4948+3A>T (n.4948+3A>T)
c.5068+3A>T (n.5068+3A>T)
c.4996+3A>T (n.4996+3A>T)
c.1762+3A>T (n.1762+3A>T)
c.1624+3A>T (n.1624+3A>T)
c.4186+3A>T (n.4186+3A>T)
c.4951+3A>T (n.4951+3A>T)
c.5140+3A>T (n.5140+3A>T)
c.4933+3A>T (n.4933+3A>T)
c.1636+3A>T (n.1636+3A>T)
c.5137+3A>T (n.5137+3A>T)
c.1461+3A>T
c.1648+3A>T (n.1648+3A>T)
c.*4857+3A>T (n.*4857+3A>T)
n.230A>T
c.1387+3A>T (n.1387+3A>T)
c.5-3654A>T (n.5-3654A>T)
c.547+3A>T (n.547+3A>T)
c.-98-17415A>T (n.-98-17415A>T)
n.5210+3A>T
n.5251+3A>T
 ClinVar dbSNP
17g.43067605T>CCA003197BRCA1c.5071+3A>G (n.5071+3A>G)
c.5074+3A>G (n.5074+3A>G)
c.4948+3A>G (n.4948+3A>G)
c.5068+3A>G (n.5068+3A>G)
c.4996+3A>G (n.4996+3A>G)
c.1762+3A>G (n.1762+3A>G)
c.1624+3A>G (n.1624+3A>G)
c.4186+3A>G (n.4186+3A>G)
c.4951+3A>G (n.4951+3A>G)
c.5140+3A>G (n.5140+3A>G)
c.4933+3A>G (n.4933+3A>G)
c.1636+3A>G (n.1636+3A>G)
c.5137+3A>G (n.5137+3A>G)
c.1461+3A>G
c.1648+3A>G (n.1648+3A>G)
c.*4857+3A>G (n.*4857+3A>G)
n.230A>G
c.1387+3A>G (n.1387+3A>G)
c.5-3654A>G (n.5-3654A>G)
c.547+3A>G (n.547+3A>G)
c.-98-17415A>G (n.-98-17415A>G)
n.5210+3A>G
n.5251+3A>G
 ClinVar dbSNP gnomAD v4
17g.43067605T>GCA916080160BRCA1c.5071+3A>C (n.5071+3A>C)
c.5074+3A>C (n.5074+3A>C)
c.4948+3A>C (n.4948+3A>C)
c.5068+3A>C (n.5068+3A>C)
c.4996+3A>C (n.4996+3A>C)
c.1762+3A>C (n.1762+3A>C)
c.1624+3A>C (n.1624+3A>C)
c.4186+3A>C (n.4186+3A>C)
c.4951+3A>C (n.4951+3A>C)
c.5140+3A>C (n.5140+3A>C)
c.4933+3A>C (n.4933+3A>C)
c.1636+3A>C (n.1636+3A>C)
c.5137+3A>C (n.5137+3A>C)
c.1461+3A>C
c.1648+3A>C (n.1648+3A>C)
c.*4857+3A>C (n.*4857+3A>C)
n.230A>C
c.1387+3A>C (n.1387+3A>C)
c.5-3654A>C (n.5-3654A>C)
c.547+3A>C (n.547+3A>C)
c.-98-17415A>C (n.-98-17415A>C)
n.5210+3A>C
n.5251+3A>C
 ClinVar dbSNP
17g.43067605T=CA2260771305BRCA1c.5071+3A= (n.5071+3A=)
c.5074+3A= (n.5074+3A=)
c.4948+3A= (n.4948+3A=)
c.5068+3A= (n.5068+3A=)
c.4996+3A= (n.4996+3A=)
c.1762+3A= (n.1762+3A=)
c.1624+3A= (n.1624+3A=)
c.4186+3A= (n.4186+3A=)
c.4951+3A= (n.4951+3A=)
c.5140+3A= (n.5140+3A=)
c.4933+3A= (n.4933+3A=)
c.1636+3A= (n.1636+3A=)
c.5137+3A= (n.5137+3A=)
c.1461+3A=
c.1648+3A= (n.1648+3A=)
c.*4857+3A= (n.*4857+3A=)
n.230A=
c.1387+3A= (n.1387+3A=)
c.5-3654A= (n.5-3654A=)
c.547+3A= (n.547+3A=)
c.-98-17415A= (n.-98-17415A=)
n.5210+3A=
n.5251+3A=
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.43067606A=CA2260771306BRCA1c.5071+2T= (n.5071+2T=)
c.5074+2T= (n.5074+2T=)
c.4948+2T= (n.4948+2T=)
c.5068+2T= (n.5068+2T=)
c.4996+2T= (n.4996+2T=)
c.1762+2T= (n.1762+2T=)
c.1624+2T= (n.1624+2T=)
c.4186+2T= (n.4186+2T=)
c.4951+2T= (n.4951+2T=)
c.5140+2T= (n.5140+2T=)
c.4933+2T= (n.4933+2T=)
c.1636+2T= (n.1636+2T=)
c.5137+2T= (n.5137+2T=)
c.1461+2T=
c.1648+2T= (n.1648+2T=)
c.*4857+2T= (n.*4857+2T=)
n.229T=
c.1387+2T= (n.1387+2T=)
c.5-3655T= (n.5-3655T=)
c.547+2T= (n.547+2T=)
c.-98-17416T= (n.-98-17416T=)
n.5210+2T=
n.5251+2T=
17g.43067606A>CCA10591374BRCA1c.5071+2T>G (n.5071+2T>G)
c.5074+2T>G (n.5074+2T>G)
c.4948+2T>G (n.4948+2T>G)
c.5068+2T>G (n.5068+2T>G)
c.4996+2T>G (n.4996+2T>G)
c.1762+2T>G (n.1762+2T>G)
c.1624+2T>G (n.1624+2T>G)
c.4186+2T>G (n.4186+2T>G)
c.4951+2T>G (n.4951+2T>G)
c.5140+2T>G (n.5140+2T>G)
c.4933+2T>G (n.4933+2T>G)
c.1636+2T>G (n.1636+2T>G)
c.5137+2T>G (n.5137+2T>G)
c.1461+2T>G
c.1648+2T>G (n.1648+2T>G)
c.*4857+2T>G (n.*4857+2T>G)
n.229T>G
c.1387+2T>G (n.1387+2T>G)
c.5-3655T>G (n.5-3655T>G)
c.547+2T>G (n.547+2T>G)
c.-98-17416T>G (n.-98-17416T>G)
n.5210+2T>G
n.5251+2T>G
 ClinVar dbSNP
17g.43067606A>GCA003196BRCA1c.5071+2T>C (n.5071+2T>C)
c.5074+2T>C (n.5074+2T>C)
c.4948+2T>C (n.4948+2T>C)
c.5068+2T>C (n.5068+2T>C)
c.4996+2T>C (n.4996+2T>C)
c.1762+2T>C (n.1762+2T>C)
c.1624+2T>C (n.1624+2T>C)
c.4186+2T>C (n.4186+2T>C)
c.4951+2T>C (n.4951+2T>C)
c.5140+2T>C (n.5140+2T>C)
c.4933+2T>C (n.4933+2T>C)
c.1636+2T>C (n.1636+2T>C)
c.5137+2T>C (n.5137+2T>C)
c.1461+2T>C
c.1648+2T>C (n.1648+2T>C)
c.*4857+2T>C (n.*4857+2T>C)
n.229T>C
c.1387+2T>C (n.1387+2T>C)
c.5-3655T>C (n.5-3655T>C)
c.547+2T>C (n.547+2T>C)
c.-98-17416T>C (n.-98-17416T>C)
n.5210+2T>C
n.5251+2T>C
 ClinVar dbSNP
17g.43067606A>TCA10591375BRCA1c.5071+2T>A (n.5071+2T>A)
c.5074+2T>A (n.5074+2T>A)
c.4948+2T>A (n.4948+2T>A)
c.5068+2T>A (n.5068+2T>A)
c.4996+2T>A (n.4996+2T>A)
c.1762+2T>A (n.1762+2T>A)
c.1624+2T>A (n.1624+2T>A)
c.4186+2T>A (n.4186+2T>A)
c.4951+2T>A (n.4951+2T>A)
c.5140+2T>A (n.5140+2T>A)
c.4933+2T>A (n.4933+2T>A)
c.1636+2T>A (n.1636+2T>A)
c.5137+2T>A (n.5137+2T>A)
c.1461+2T>A
c.1648+2T>A (n.1648+2T>A)
c.*4857+2T>A (n.*4857+2T>A)
n.229T>A
c.1387+2T>A (n.1387+2T>A)
c.5-3655T>A (n.5-3655T>A)
c.547+2T>A (n.547+2T>A)
c.-98-17416T>A (n.-98-17416T>A)
n.5210+2T>A
n.5251+2T>A
 ClinVar dbSNP
17g.43067606_43067607delinsACCA2260771307BRCA1c.5071+1_5071+2delinsGT (n.5071+1_5071+2delinsGT)
c.5074+1_5074+2delinsGT (n.5074+1_5074+2delinsGT)
c.4948+1_4948+2delinsGT (n.4948+1_4948+2delinsGT)
c.5068+1_5068+2delinsGT (n.5068+1_5068+2delinsGT)
c.4996+1_4996+2delinsGT (n.4996+1_4996+2delinsGT)
c.1762+1_1762+2delinsGT (n.1762+1_1762+2delinsGT)
c.1624+1_1624+2delinsGT (n.1624+1_1624+2delinsGT)
c.4186+1_4186+2delinsGT (n.4186+1_4186+2delinsGT)
c.4951+1_4951+2delinsGT (n.4951+1_4951+2delinsGT)
c.5140+1_5140+2delinsGT (n.5140+1_5140+2delinsGT)
c.4933+1_4933+2delinsGT (n.4933+1_4933+2delinsGT)
c.1636+1_1636+2delinsGT (n.1636+1_1636+2delinsGT)
c.5137+1_5137+2delinsGT (n.5137+1_5137+2delinsGT)
c.1461+1_1461+2delinsGT
c.1648+1_1648+2delinsGT (n.1648+1_1648+2delinsGT)
c.*4857+1_*4857+2delinsGT (n.*4857+1_*4857+2delinsGT)
n.228_229delinsGT
c.1387+1_1387+2delinsGT (n.1387+1_1387+2delinsGT)
c.5-3656_5-3655delinsGT (n.5-3656_5-3655delinsGT)
c.547+1_547+2delinsGT (n.547+1_547+2delinsGT)
c.-98-17417_-98-17416delinsGT (n.-98-17417_-98-17416delinsGT)
n.5210+1_5210+2delinsGT
n.5251+1_5251+2delinsGT
17g.43067607C>ACA003194BRCA1c.5071+1G>T (n.5071+1G>T)
c.5074+1G>T (n.5074+1G>T)
c.4948+1G>T (n.4948+1G>T)
c.5068+1G>T (n.5068+1G>T)
c.4996+1G>T (n.4996+1G>T)
c.1762+1G>T (n.1762+1G>T)
c.1624+1G>T (n.1624+1G>T)
c.4186+1G>T (n.4186+1G>T)
c.4951+1G>T (n.4951+1G>T)
c.5140+1G>T (n.5140+1G>T)
c.4933+1G>T (n.4933+1G>T)
c.1636+1G>T (n.1636+1G>T)
c.5137+1G>T (n.5137+1G>T)
c.1461+1G>T
c.1648+1G>T (n.1648+1G>T)
c.*4857+1G>T (n.*4857+1G>T)
n.228G>T
c.1387+1G>T (n.1387+1G>T)
c.5-3656G>T (n.5-3656G>T)
c.547+1G>T (n.547+1G>T)
c.-98-17417G>T (n.-98-17417G>T)
n.5210+1G>T
n.5251+1G>T
 ClinVar dbSNP
17g.43067607C=CA2260771308BRCA1c.5071+1G= (n.5071+1G=)
c.5074+1G= (n.5074+1G=)
c.4948+1G= (n.4948+1G=)
c.5068+1G= (n.5068+1G=)
c.4996+1G= (n.4996+1G=)
c.1762+1G= (n.1762+1G=)
c.1624+1G= (n.1624+1G=)
c.4186+1G= (n.4186+1G=)
c.4951+1G= (n.4951+1G=)
c.5140+1G= (n.5140+1G=)
c.4933+1G= (n.4933+1G=)
c.1636+1G= (n.1636+1G=)
c.5137+1G= (n.5137+1G=)
c.1461+1G=
c.1648+1G= (n.1648+1G=)
c.*4857+1G= (n.*4857+1G=)
n.228G=
c.1387+1G= (n.1387+1G=)
c.5-3656G= (n.5-3656G=)
c.547+1G= (n.547+1G=)
c.-98-17417G= (n.-98-17417G=)
n.5210+1G=
n.5251+1G=
17g.43067607C>GCA10591376BRCA1c.5071+1G>C (n.5071+1G>C)
c.5074+1G>C (n.5074+1G>C)
c.4948+1G>C (n.4948+1G>C)
c.5068+1G>C (n.5068+1G>C)
c.4996+1G>C (n.4996+1G>C)
c.1762+1G>C (n.1762+1G>C)
c.1624+1G>C (n.1624+1G>C)
c.4186+1G>C (n.4186+1G>C)
c.4951+1G>C (n.4951+1G>C)
c.5140+1G>C (n.5140+1G>C)
c.4933+1G>C (n.4933+1G>C)
c.1636+1G>C (n.1636+1G>C)
c.5137+1G>C (n.5137+1G>C)
c.1461+1G>C
c.1648+1G>C (n.1648+1G>C)
c.*4857+1G>C (n.*4857+1G>C)
n.228G>C
c.1387+1G>C (n.1387+1G>C)
c.5-3656G>C (n.5-3656G>C)
c.547+1G>C (n.547+1G>C)
c.-98-17417G>C (n.-98-17417G>C)
n.5210+1G>C
n.5251+1G>C
 ClinVar dbSNP
17g.43067607C>TCA003193BRCA1c.5071+1G>A (n.5071+1G>A)
c.5074+1G>A (n.5074+1G>A)
c.4948+1G>A (n.4948+1G>A)
c.5068+1G>A (n.5068+1G>A)
c.4996+1G>A (n.4996+1G>A)
c.1762+1G>A (n.1762+1G>A)
c.1624+1G>A (n.1624+1G>A)
c.4186+1G>A (n.4186+1G>A)
c.4951+1G>A (n.4951+1G>A)
c.5140+1G>A (n.5140+1G>A)
c.4933+1G>A (n.4933+1G>A)
c.1636+1G>A (n.1636+1G>A)
c.5137+1G>A (n.5137+1G>A)
c.1461+1G>A
c.1648+1G>A (n.1648+1G>A)
c.*4857+1G>A (n.*4857+1G>A)
n.228G>A
c.1387+1G>A (n.1387+1G>A)
c.5-3656G>A (n.5-3656G>A)
c.547+1G>A (n.547+1G>A)
c.-98-17417G>A (n.-98-17417G>A)
n.5210+1G>A
n.5251+1G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43067608delCA915950092BRCA1c.5071+1del
c.5074+1del
c.4948+1del
c.5068+1del
c.4996+1del
c.1762+1del
c.1624+1del
c.4186+1del
c.4951+1del
c.5140+1del
c.4933+1del
c.1636+1del
c.5137+1del
c.1461+1del
c.1648+1del
c.*4857+1del
n.228del
c.1387+1del
c.5-3656del (n.5-3656del)
c.547+1del
c.-98-17417del (n.-98-17417del)
n.5210+1del
n.5251+1del
 ClinVar dbSNP
17g.43067608C>ACA003203BRCA1c.5071G>T (p.Asp1691Tyr)
c.5074G>T (p.Asp1692Tyr)
c.4948G>T (p.Asp1650Tyr)
c.5068G>T (p.Asp1690Tyr)
c.4996G>T (p.Asp1666Tyr)
c.1762G>T (p.Asp588Tyr)
c.1624G>T (p.Asp542Tyr)
c.4186G>T (p.Asp1396Tyr)
c.4951G>T (p.Asp1651Tyr)
c.5140G>T (p.Asp1714Tyr)
c.4933G>T (p.Asp1645Tyr)
c.1636G>T (p.Asp546Tyr)
c.5137G>T (p.Asp1713Tyr)
c.1461G>T
c.1648G>T (p.Asp550Tyr)
c.*4857G>T (n.*4857G>T)
n.227G>T
c.1387G>T (p.Asp463Tyr)
c.5-3657G>T (n.5-3657G>T)
c.547G>T (p.Asp183Tyr)
c.-98-17418G>T (n.-98-17418G>T)
n.5210G>T
n.5251G>T
 ClinVar dbSNP
17g.43067608C=CA2260771309BRCA1c.5071G= (p.Asp1691=)
c.5074G= (p.Asp1692=)
c.4948G= (p.Asp1650=)
c.5068G= (p.Asp1690=)
c.4996G= (p.Asp1666=)
c.1762G= (p.Asp588=)
c.1624G= (p.Asp542=)
c.4186G= (p.Asp1396=)
c.4951G= (p.Asp1651=)
c.5140G= (p.Asp1714=)
c.4933G= (p.Asp1645=)
c.1636G= (p.Asp546=)
c.5137G= (p.Asp1713=)
c.1461G=
c.1648G= (p.Asp550=)
c.*4857G= (n.*4857G=)
n.227G=
c.1387G= (p.Asp463=)
c.5-3657G= (n.5-3657G=)
c.547G= (p.Asp183=)
c.-98-17418G= (n.-98-17418G=)
n.5210G=
n.5251G=
17g.43067608C>GCA003202BRCA1c.5071G>C (p.Asp1691His)
c.5074G>C (p.Asp1692His)
c.4948G>C (p.Asp1650His)
c.5068G>C (p.Asp1690His)
c.4996G>C (p.Asp1666His)
c.1762G>C (p.Asp588His)
c.1624G>C (p.Asp542His)
c.4186G>C (p.Asp1396His)
c.4951G>C (p.Asp1651His)
c.5140G>C (p.Asp1714His)
c.4933G>C (p.Asp1645His)
c.1636G>C (p.Asp546His)
c.5137G>C (p.Asp1713His)
c.1461G>C
c.1648G>C (p.Asp550His)
c.*4857G>C (n.*4857G>C)
n.227G>C
c.1387G>C (p.Asp463His)
c.5-3657G>C (n.5-3657G>C)
c.547G>C (p.Asp183His)
c.-98-17418G>C (n.-98-17418G>C)
n.5210G>C
n.5251G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43067608C>TCA003201BRCA1c.5071G>A (p.Asp1691Asn)
c.5074G>A (p.Asp1692Asn)
c.4948G>A (p.Asp1650Asn)
c.5068G>A (p.Asp1690Asn)
c.4996G>A (p.Asp1666Asn)
c.1762G>A (p.Asp588Asn)
c.1624G>A (p.Asp542Asn)
c.4186G>A (p.Asp1396Asn)
c.4951G>A (p.Asp1651Asn)
c.5140G>A (p.Asp1714Asn)
c.4933G>A (p.Asp1645Asn)
c.1636G>A (p.Asp546Asn)
c.5137G>A (p.Asp1713Asn)
c.1461G>A
c.1648G>A (p.Asp550Asn)
c.*4857G>A (n.*4857G>A)
n.227G>A
c.1387G>A (p.Asp463Asn)
c.5-3657G>A (n.5-3657G>A)
c.547G>A (p.Asp183Asn)
c.-98-17418G>A (n.-98-17418G>A)
n.5210G>A
n.5251G>A
 ClinVar dbSNP
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.43067609T>ACA500146297BRCA1c.5070A>T (p.Thr1690=)
c.5073A>T (p.Thr1691=)
c.4947A>T (p.Thr1649=)
c.5067A>T (p.Thr1689=)
c.4995A>T (p.Thr1665=)
c.1761A>T (p.Thr587=)
c.1623A>T (p.Thr541=)
c.4185A>T (p.Thr1395=)
c.4950A>T (p.Thr1650=)
c.5139A>T (p.Thr1713=)
c.4932A>T (p.Thr1644=)
c.1635A>T (p.Thr545=)
c.5136A>T (p.Thr1712=)
c.1460A>T
c.1647A>T (p.Thr549=)
c.*4856A>T (n.*4856A>T)
n.226A>T
c.1386A>T (p.Thr462=)
c.5-3658A>T (n.5-3658A>T)
c.546A>T (p.Thr182=)
c.-98-17419A>T (n.-98-17419A>T)
n.5209A>T
n.5250A>T
 ClinVar dbSNP
17g.43067609T>CCA003191BRCA1c.5070A>G (p.Thr1690=)
c.5073A>G (p.Thr1691=)
c.4947A>G (p.Thr1649=)
c.5067A>G (p.Thr1689=)
c.4995A>G (p.Thr1665=)
c.1761A>G (p.Thr587=)
c.1623A>G (p.Thr541=)
c.4185A>G (p.Thr1395=)
c.4950A>G (p.Thr1650=)
c.5139A>G (p.Thr1713=)
c.4932A>G (p.Thr1644=)
c.1635A>G (p.Thr545=)
c.5136A>G (p.Thr1712=)
c.1460A>G
c.1647A>G (p.Thr549=)
c.*4856A>G (n.*4856A>G)
n.226A>G
c.1386A>G (p.Thr462=)
c.5-3658A>G (n.5-3658A>G)
c.546A>G (p.Thr182=)
c.-98-17419A>G (n.-98-17419A>G)
n.5209A>G
n.5250A>G
 ClinVar dbSNP gnomAD v4
17g.43067609T>GCA500146299BRCA1c.5070A>C (p.Thr1690=)
c.5073A>C (p.Thr1691=)
c.4947A>C (p.Thr1649=)
c.5067A>C (p.Thr1689=)
c.4995A>C (p.Thr1665=)
c.1761A>C (p.Thr587=)
c.1623A>C (p.Thr541=)
c.4185A>C (p.Thr1395=)
c.4950A>C (p.Thr1650=)
c.5139A>C (p.Thr1713=)
c.4932A>C (p.Thr1644=)
c.1635A>C (p.Thr545=)
c.5136A>C (p.Thr1712=)
c.1460A>C
c.1647A>C (p.Thr549=)
c.*4856A>C (n.*4856A>C)
n.226A>C
c.1386A>C (p.Thr462=)
c.5-3658A>C (n.5-3658A>C)
c.546A>C (p.Thr182=)
c.-98-17419A>C (n.-98-17419A>C)
n.5209A>C
n.5250A>C
 ClinVar dbSNP COSMIC COSMIC
17g.43067609T=CA2260771310BRCA1c.5070A= (p.Thr1690=)
c.5073A= (p.Thr1691=)
c.4947A= (p.Thr1649=)
c.5067A= (p.Thr1689=)
c.4995A= (p.Thr1665=)
c.1761A= (p.Thr587=)
c.1623A= (p.Thr541=)
c.4185A= (p.Thr1395=)
c.4950A= (p.Thr1650=)
c.5139A= (p.Thr1713=)
c.4932A= (p.Thr1644=)
c.1635A= (p.Thr545=)
c.5136A= (p.Thr1712=)
c.1460A=
c.1647A= (p.Thr549=)
c.*4856A= (n.*4856A=)
n.226A=
c.1386A= (p.Thr462=)
c.5-3658A= (n.5-3658A=)
c.546A= (p.Thr182=)
c.-98-17419A= (n.-98-17419A=)
n.5209A=
n.5250A=
17g.43067609dupCA1139770417BRCA1c.5070dup (p.Asp1691ArgfsTer3)
c.5073dup (p.Asp1692ArgfsTer3)
c.4947dup (p.Asp1650ArgfsTer3)
c.5067dup (p.Asp1690ArgfsTer3)
c.4995dup (p.Asp1666ArgfsTer3)
c.1761dup (p.Asp588ArgfsTer3)
c.1623dup (p.Asp542ArgfsTer3)
c.4185dup (p.Asp1396ArgfsTer3)
c.4950dup (p.Asp1651ArgfsTer3)
c.5139dup (p.Asp1714ArgfsTer3)
c.4932dup (p.Asp1645ArgfsTer3)
c.1635dup (p.Asp546ArgfsTer3)
c.5136dup (p.Asp1713ArgfsTer3)
c.1460dup
c.1647dup (p.Asp550ArgfsTer3)
c.*4856dup (n.*4856dup)
n.226dup
c.1386dup (p.Asp463ArgfsTer3)
c.5-3658dup (n.5-3658dup)
c.546dup (p.Asp183ArgfsTer3)
c.-98-17419dup (n.-98-17419dup)
n.5209dup
n.5250dup
17g.43067610G>ACA003190BRCA1c.5069C>T (p.Thr1690Ile)
c.5072C>T (p.Thr1691Ile)
c.4946C>T (p.Thr1649Ile)
c.5066C>T (p.Thr1689Ile)
c.4994C>T (p.Thr1665Ile)
c.1760C>T (p.Thr587Ile)
c.1622C>T (p.Thr541Ile)
c.4184C>T (p.Thr1395Ile)
c.4949C>T (p.Thr1650Ile)
c.5138C>T (p.Thr1713Ile)
c.4931C>T (p.Thr1644Ile)
c.1634C>T (p.Thr545Ile)
c.5135C>T (p.Thr1712Ile)
c.1459C>T
c.1646C>T (p.Thr549Ile)
c.*4855C>T (n.*4855C>T)
n.225C>T
c.1385C>T (p.Thr462Ile)
c.5-3659C>T (n.5-3659C>T)
c.545C>T (p.Thr182Ile)
c.-98-17420C>T (n.-98-17420C>T)
n.5208C>T
n.5249C>T
 ClinVar dbSNP
17g.43067610G>CCA003189BRCA1c.5069C>G (p.Thr1690Arg)
c.5072C>G (p.Thr1691Arg)
c.4946C>G (p.Thr1649Arg)
c.5066C>G (p.Thr1689Arg)
c.4994C>G (p.Thr1665Arg)
c.1760C>G (p.Thr587Arg)
c.1622C>G (p.Thr541Arg)
c.4184C>G (p.Thr1395Arg)
c.4949C>G (p.Thr1650Arg)
c.5138C>G (p.Thr1713Arg)
c.4931C>G (p.Thr1644Arg)
c.1634C>G (p.Thr545Arg)
c.5135C>G (p.Thr1712Arg)
c.1459C>G
c.1646C>G (p.Thr549Arg)
c.*4855C>G (n.*4855C>G)
n.225C>G
c.1385C>G (p.Thr462Arg)
c.5-3659C>G (n.5-3659C>G)
c.545C>G (p.Thr182Arg)
c.-98-17420C>G (n.-98-17420C>G)
n.5208C>G
n.5249C>G
 ClinVar dbSNP
17g.43067610G=CA2260771311BRCA1c.5069C= (p.Thr1690=)
c.5072C= (p.Thr1691=)
c.4946C= (p.Thr1649=)
c.5066C= (p.Thr1689=)
c.4994C= (p.Thr1665=)
c.1760C= (p.Thr587=)
c.1622C= (p.Thr541=)
c.4184C= (p.Thr1395=)
c.4949C= (p.Thr1650=)
c.5138C= (p.Thr1713=)
c.4931C= (p.Thr1644=)
c.1634C= (p.Thr545=)
c.5135C= (p.Thr1712=)
c.1459C=
c.1646C= (p.Thr549=)
c.*4855C= (n.*4855C=)
n.225C=
c.1385C= (p.Thr462=)
c.5-3659C= (n.5-3659C=)
c.545C= (p.Thr182=)
c.-98-17420C= (n.-98-17420C=)
n.5208C=
n.5249C=
17g.43067610G>TCA003188BRCA1c.5069C>A (p.Thr1690Lys)
c.5072C>A (p.Thr1691Lys)
c.4946C>A (p.Thr1649Lys)
c.5066C>A (p.Thr1689Lys)
c.4994C>A (p.Thr1665Lys)
c.1760C>A (p.Thr587Lys)
c.1622C>A (p.Thr541Lys)
c.4184C>A (p.Thr1395Lys)
c.4949C>A (p.Thr1650Lys)
c.5138C>A (p.Thr1713Lys)
c.4931C>A (p.Thr1644Lys)
c.1634C>A (p.Thr545Lys)
c.5135C>A (p.Thr1712Lys)
c.1459C>A
c.1646C>A (p.Thr549Lys)
c.*4855C>A (n.*4855C>A)
n.225C>A
c.1385C>A (p.Thr462Lys)
c.5-3659C>A (n.5-3659C>A)
c.545C>A (p.Thr182Lys)
c.-98-17420C>A (n.-98-17420C>A)
n.5208C>A
n.5249C>A
 ClinVar dbSNP
17g.43067611T>ACA10591377BRCA1c.5068A>T (p.Thr1690Ser)
c.5071A>T (p.Thr1691Ser)
c.4945A>T (p.Thr1649Ser)
c.5065A>T (p.Thr1689Ser)
c.4993A>T (p.Thr1665Ser)
c.1759A>T (p.Thr587Ser)
c.1621A>T (p.Thr541Ser)
c.4183A>T (p.Thr1395Ser)
c.4948A>T (p.Thr1650Ser)
c.5137A>T (p.Thr1713Ser)
c.4930A>T (p.Thr1644Ser)
c.1633A>T (p.Thr545Ser)
c.5134A>T (p.Thr1712Ser)
c.1458A>T
c.1645A>T (p.Thr549Ser)
c.*4854A>T (n.*4854A>T)
n.224A>T
c.1384A>T (p.Thr462Ser)
c.5-3660A>T (n.5-3660A>T)
c.544A>T (p.Thr182Ser)
c.-98-17421A>T (n.-98-17421A>T)
n.5207A>T
n.5248A>T
 ClinVar dbSNP
17g.43067611T>CCA003187BRCA1c.5068A>G (p.Thr1690Ala)
c.5071A>G (p.Thr1691Ala)
c.4945A>G (p.Thr1649Ala)
c.5065A>G (p.Thr1689Ala)
c.4993A>G (p.Thr1665Ala)
c.1759A>G (p.Thr587Ala)
c.1621A>G (p.Thr541Ala)
c.4183A>G (p.Thr1395Ala)
c.4948A>G (p.Thr1650Ala)
c.5137A>G (p.Thr1713Ala)
c.4930A>G (p.Thr1644Ala)
c.1633A>G (p.Thr545Ala)
c.5134A>G (p.Thr1712Ala)
c.1458A>G
c.1645A>G (p.Thr549Ala)
c.*4854A>G (n.*4854A>G)
n.224A>G
c.1384A>G (p.Thr462Ala)
c.5-3660A>G (n.5-3660A>G)
c.544A>G (p.Thr182Ala)
c.-98-17421A>G (n.-98-17421A>G)
n.5207A>G
n.5248A>G
 ClinVar dbSNP gnomAD v4
17g.43067611T>GCA10591378BRCA1c.5068A>C (p.Thr1690Pro)
c.5071A>C (p.Thr1691Pro)
c.4945A>C (p.Thr1649Pro)
c.5065A>C (p.Thr1689Pro)
c.4993A>C (p.Thr1665Pro)
c.1759A>C (p.Thr587Pro)
c.1621A>C (p.Thr541Pro)
c.4183A>C (p.Thr1395Pro)
c.4948A>C (p.Thr1650Pro)
c.5137A>C (p.Thr1713Pro)
c.4930A>C (p.Thr1644Pro)
c.1633A>C (p.Thr545Pro)
c.5134A>C (p.Thr1712Pro)
c.1458A>C
c.1645A>C (p.Thr549Pro)
c.*4854A>C (n.*4854A>C)
n.224A>C
c.1384A>C (p.Thr462Pro)
c.5-3660A>C (n.5-3660A>C)
c.544A>C (p.Thr182Pro)
c.-98-17421A>C (n.-98-17421A>C)
n.5207A>C
n.5248A>C
 ClinVar dbSNP
17g.43067611T=CA2260771312BRCA1c.5068A= (p.Thr1690=)
c.5071A= (p.Thr1691=)
c.4945A= (p.Thr1649=)
c.5065A= (p.Thr1689=)
c.4993A= (p.Thr1665=)
c.1759A= (p.Thr587=)
c.1621A= (p.Thr541=)
c.4183A= (p.Thr1395=)
c.4948A= (p.Thr1650=)
c.5137A= (p.Thr1713=)
c.4930A= (p.Thr1644=)
c.1633A= (p.Thr545=)
c.5134A= (p.Thr1712=)
c.1458A=
c.1645A= (p.Thr549=)
c.*4854A= (n.*4854A=)
n.224A=
c.1384A= (p.Thr462=)
c.5-3660A= (n.5-3660A=)
c.544A= (p.Thr182=)
c.-98-17421A= (n.-98-17421A=)
n.5207A=
n.5248A=
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.43067612T>ACA10591379BRCA1c.5067A>T (p.Lys1689Asn)
c.5070A>T (p.Lys1690Asn)
c.4944A>T (p.Lys1648Asn)
c.5064A>T (p.Lys1688Asn)
c.4992A>T (p.Lys1664Asn)
c.1758A>T (p.Lys586Asn)
c.1620A>T (p.Lys540Asn)
c.4182A>T (p.Lys1394Asn)
c.4947A>T (p.Lys1649Asn)
c.5136A>T (p.Lys1712Asn)
c.4929A>T (p.Lys1643Asn)
c.1632A>T (p.Lys544Asn)
c.5133A>T (p.Lys1711Asn)
c.1457A>T
c.1644A>T (p.Lys548Asn)
c.*4853A>T (n.*4853A>T)
n.223A>T
c.1383A>T (p.Lys461Asn)
c.5-3661A>T (n.5-3661A>T)
c.543A>T (p.Lys181Asn)
c.-98-17422A>T (n.-98-17422A>T)
n.5206A>T
n.5247A>T
 ClinVar dbSNP
17g.43067612T>CCA500146301BRCA1c.5067A>G (p.Lys1689=)
c.5070A>G (p.Lys1690=)
c.4944A>G (p.Lys1648=)
c.5064A>G (p.Lys1688=)
c.4992A>G (p.Lys1664=)
c.1758A>G (p.Lys586=)
c.1620A>G (p.Lys540=)
c.4182A>G (p.Lys1394=)
c.4947A>G (p.Lys1649=)
c.5136A>G (p.Lys1712=)
c.4929A>G (p.Lys1643=)
c.1632A>G (p.Lys544=)
c.5133A>G (p.Lys1711=)
c.1457A>G
c.1644A>G (p.Lys548=)
c.*4853A>G (n.*4853A>G)
n.223A>G
c.1383A>G (p.Lys461=)
c.5-3661A>G (n.5-3661A>G)
c.543A>G (p.Lys181=)
c.-98-17422A>G (n.-98-17422A>G)
n.5206A>G
n.5247A>G
 ClinVar dbSNP
17g.43067612T>GCA10591380BRCA1c.5067A>C (p.Lys1689Asn)
c.5070A>C (p.Lys1690Asn)
c.4944A>C (p.Lys1648Asn)
c.5064A>C (p.Lys1688Asn)
c.4992A>C (p.Lys1664Asn)
c.1758A>C (p.Lys586Asn)
c.1620A>C (p.Lys540Asn)
c.4182A>C (p.Lys1394Asn)
c.4947A>C (p.Lys1649Asn)
c.5136A>C (p.Lys1712Asn)
c.4929A>C (p.Lys1643Asn)
c.1632A>C (p.Lys544Asn)
c.5133A>C (p.Lys1711Asn)
c.1457A>C
c.1644A>C (p.Lys548Asn)
c.*4853A>C (n.*4853A>C)
n.223A>C
c.1383A>C (p.Lys461Asn)
c.5-3661A>C (n.5-3661A>C)
c.543A>C (p.Lys181Asn)
c.-98-17422A>C (n.-98-17422A>C)
n.5206A>C
n.5247A>C
 ClinVar dbSNP
17g.43067612T=CA2260771313BRCA1c.5067A= (p.Lys1689=)
c.5070A= (p.Lys1690=)
c.4944A= (p.Lys1648=)
c.5064A= (p.Lys1688=)
c.4992A= (p.Lys1664=)
c.1758A= (p.Lys586=)
c.1620A= (p.Lys540=)
c.4182A= (p.Lys1394=)
c.4947A= (p.Lys1649=)
c.5136A= (p.Lys1712=)
c.4929A= (p.Lys1643=)
c.1632A= (p.Lys544=)
c.5133A= (p.Lys1711=)
c.1457A=
c.1644A= (p.Lys548=)
c.*4853A= (n.*4853A=)
n.223A=
c.1383A= (p.Lys461=)
c.5-3661A= (n.5-3661A=)
c.543A= (p.Lys181=)
c.-98-17422A= (n.-98-17422A=)
n.5206A=
n.5247A=
17g.43067613T>ACA10591381BRCA1c.5066A>T (p.Lys1689Ile)
c.5069A>T (p.Lys1690Ile)
c.4943A>T (p.Lys1648Ile)
c.5063A>T (p.Lys1688Ile)
c.4991A>T (p.Lys1664Ile)
c.1757A>T (p.Lys586Ile)
c.1619A>T (p.Lys540Ile)
c.4181A>T (p.Lys1394Ile)
c.4946A>T (p.Lys1649Ile)
c.5135A>T (p.Lys1712Ile)
c.4928A>T (p.Lys1643Ile)
c.1631A>T (p.Lys544Ile)
c.5132A>T (p.Lys1711Ile)
c.1456A>T
c.1643A>T (p.Lys548Ile)
c.*4852A>T (n.*4852A>T)
n.222A>T
c.1382A>T (p.Lys461Ile)
c.5-3662A>T (n.5-3662A>T)
c.542A>T (p.Lys181Ile)
c.-98-17423A>T (n.-98-17423A>T)
n.5205A>T
n.5246A>T
 ClinVar dbSNP
17g.43067613T>CCA10591382BRCA1c.5066A>G (p.Lys1689Arg)
c.5069A>G (p.Lys1690Arg)
c.4943A>G (p.Lys1648Arg)
c.5063A>G (p.Lys1688Arg)
c.4991A>G (p.Lys1664Arg)
c.1757A>G (p.Lys586Arg)
c.1619A>G (p.Lys540Arg)
c.4181A>G (p.Lys1394Arg)
c.4946A>G (p.Lys1649Arg)
c.5135A>G (p.Lys1712Arg)
c.4928A>G (p.Lys1643Arg)
c.1631A>G (p.Lys544Arg)
c.5132A>G (p.Lys1711Arg)
c.1456A>G
c.1643A>G (p.Lys548Arg)
c.*4852A>G (n.*4852A>G)
n.222A>G
c.1382A>G (p.Lys461Arg)
c.5-3662A>G (n.5-3662A>G)
c.542A>G (p.Lys181Arg)
c.-98-17423A>G (n.-98-17423A>G)
n.5205A>G
n.5246A>G
 ClinVar dbSNP
17g.43067613T>GCA10591383BRCA1c.5066A>C (p.Lys1689Thr)
c.5069A>C (p.Lys1690Thr)
c.4943A>C (p.Lys1648Thr)
c.5063A>C (p.Lys1688Thr)
c.4991A>C (p.Lys1664Thr)
c.1757A>C (p.Lys586Thr)
c.1619A>C (p.Lys540Thr)
c.4181A>C (p.Lys1394Thr)
c.4946A>C (p.Lys1649Thr)
c.5135A>C (p.Lys1712Thr)
c.4928A>C (p.Lys1643Thr)
c.1631A>C (p.Lys544Thr)
c.5132A>C (p.Lys1711Thr)
c.1456A>C
c.1643A>C (p.Lys548Thr)
c.*4852A>C (n.*4852A>C)
n.222A>C
c.1382A>C (p.Lys461Thr)
c.5-3662A>C (n.5-3662A>C)
c.542A>C (p.Lys181Thr)
c.-98-17423A>C (n.-98-17423A>C)
n.5205A>C
n.5246A>C
 ClinVar dbSNP
17g.43067613T=CA2260771314BRCA1c.5066A= (p.Lys1689=)
c.5069A= (p.Lys1690=)
c.4943A= (p.Lys1648=)
c.5063A= (p.Lys1688=)
c.4991A= (p.Lys1664=)
c.1757A= (p.Lys586=)
c.1619A= (p.Lys540=)
c.4181A= (p.Lys1394=)
c.4946A= (p.Lys1649=)
c.5135A= (p.Lys1712=)
c.4928A= (p.Lys1643=)
c.1631A= (p.Lys544=)
c.5132A= (p.Lys1711=)
c.1456A=
c.1643A= (p.Lys548=)
c.*4852A= (n.*4852A=)
n.222A=
c.1382A= (p.Lys461=)
c.5-3662A= (n.5-3662A=)
c.542A= (p.Lys181=)
c.-98-17423A= (n.-98-17423A=)
n.5205A=
n.5246A=
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
17g.43067621A>GCA500146310BRCA1c.5058T>C (p.Val1686=)
c.5061T>C (p.Val1687=)
c.4935T>C (p.Val1645=)
c.5055T>C (p.Val1685=)
c.4983T>C (p.Val1661=)
c.1749T>C (p.Val583=)
c.1611T>C (p.Val537=)
c.4173T>C (p.Val1391=)
c.4938T>C (p.Val1646=)
c.5127T>C (p.Val1709=)
c.4920T>C (p.Val1640=)
c.1623T>C (p.Val541=)
c.5124T>C (p.Val1708=)
c.1448T>C
c.1635T>C (p.Val545=)
c.*4844T>C (n.*4844T>C)
n.214T>C
c.1374T>C (p.Val458=)
c.5-3670T>C (n.5-3670T>C)
c.534T>C (p.Val178=)
c.-98-17431T>C (n.-98-17431T>C)
n.5197T>C
n.5238T>C
 ClinVar dbSNP
17g.43067621A>TCA500146312BRCA1c.5058T>A (p.Val1686=)
c.5061T>A (p.Val1687=)
c.4935T>A (p.Val1645=)
c.5055T>A (p.Val1685=)
c.4983T>A (p.Val1661=)
c.1749T>A (p.Val583=)
c.1611T>A (p.Val537=)
c.4173T>A (p.Val1391=)
c.4938T>A (p.Val1646=)
c.5127T>A (p.Val1709=)
c.4920T>A (p.Val1640=)
c.1623T>A (p.Val541=)
c.5124T>A (p.Val1708=)
c.1448T>A
c.1635T>A (p.Val545=)
c.*4844T>A (n.*4844T>A)
n.214T>A
c.1374T>A (p.Val458=)
c.5-3670T>A (n.5-3670T>A)
c.534T>A (p.Val178=)
c.-98-17431T>A (n.-98-17431T>A)
n.5197T>A
n.5238T>A
 ClinVar dbSNP
17g.43067622A=CA2260771325BRCA1c.5057T= (p.Val1686=)
c.5060T= (p.Val1687=)
c.4934T= (p.Val1645=)
c.5054T= (p.Val1685=)
c.4982T= (p.Val1661=)
c.1748T= (p.Val583=)
c.1610T= (p.Val537=)
c.4172T= (p.Val1391=)
c.4937T= (p.Val1646=)
c.5126T= (p.Val1709=)
c.4919T= (p.Val1640=)
c.1622T= (p.Val541=)
c.5123T= (p.Val1708=)
c.1447T=
c.1634T= (p.Val545=)
c.*4843T= (n.*4843T=)
n.213T=
c.1373T= (p.Val458=)
c.5-3671T= (n.5-3671T=)
c.533T= (p.Val178=)
c.-98-17432T= (n.-98-17432T=)
n.5196T=
n.5237T=
17g.43067622A>CCA10591398BRCA1c.5057T>G (p.Val1686Gly)
c.5060T>G (p.Val1687Gly)
c.4934T>G (p.Val1645Gly)
c.5054T>G (p.Val1685Gly)
c.4982T>G (p.Val1661Gly)
c.1748T>G (p.Val583Gly)
c.1610T>G (p.Val537Gly)
c.4172T>G (p.Val1391Gly)
c.4937T>G (p.Val1646Gly)
c.5126T>G (p.Val1709Gly)
c.4919T>G (p.Val1640Gly)
c.1622T>G (p.Val541Gly)
c.5123T>G (p.Val1708Gly)
c.1447T>G
c.1634T>G (p.Val545Gly)
c.*4843T>G (n.*4843T>G)
n.213T>G
c.1373T>G (p.Val458Gly)
c.5-3671T>G (n.5-3671T>G)
c.533T>G (p.Val178Gly)
c.-98-17432T>G (n.-98-17432T>G)
n.5196T>G
n.5237T>G
 ClinVar dbSNP gnomAD v4
17g.43067622A>GCA10591399BRCA1c.5057T>C (p.Val1686Ala)
c.5060T>C (p.Val1687Ala)
c.4934T>C (p.Val1645Ala)
c.5054T>C (p.Val1685Ala)
c.4982T>C (p.Val1661Ala)
c.1748T>C (p.Val583Ala)
c.1610T>C (p.Val537Ala)
c.4172T>C (p.Val1391Ala)
c.4937T>C (p.Val1646Ala)
c.5126T>C (p.Val1709Ala)
c.4919T>C (p.Val1640Ala)
c.1622T>C (p.Val541Ala)
c.5123T>C (p.Val1708Ala)
c.1447T>C
c.1634T>C (p.Val545Ala)
c.*4843T>C (n.*4843T>C)
n.213T>C
c.1373T>C (p.Val458Ala)
c.5-3671T>C (n.5-3671T>C)
c.533T>C (p.Val178Ala)
c.-98-17432T>C (n.-98-17432T>C)
n.5196T>C
n.5237T>C
 ClinVar dbSNP gnomAD v4
17g.43067622A>TCA10591400BRCA1c.5057T>A (p.Val1686Asp)
c.5060T>A (p.Val1687Asp)
c.4934T>A (p.Val1645Asp)
c.5054T>A (p.Val1685Asp)
c.4982T>A (p.Val1661Asp)
c.1748T>A (p.Val583Asp)
c.1610T>A (p.Val537Asp)
c.4172T>A (p.Val1391Asp)
c.4937T>A (p.Val1646Asp)
c.5126T>A (p.Val1709Asp)
c.4919T>A (p.Val1640Asp)
c.1622T>A (p.Val541Asp)
c.5123T>A (p.Val1708Asp)
c.1447T>A
c.1634T>A (p.Val545Asp)
c.*4843T>A (n.*4843T>A)
n.213T>A
c.1373T>A (p.Val458Asp)
c.5-3671T>A (n.5-3671T>A)
c.533T>A (p.Val178Asp)
c.-98-17432T>A (n.-98-17432T>A)
n.5196T>A
n.5237T>A
 ClinVar dbSNP
17g.43067622_43067623delinsACCA2260771324BRCA1c.5056_5057delinsGT (p.Val1686=)
c.5059_5060delinsGT (p.Val1687=)
c.4933_4934delinsGT (p.Val1645=)
c.5053_5054delinsGT (p.Val1685=)
c.4981_4982delinsGT (p.Val1661=)
c.1747_1748delinsGT (p.Val583=)
c.1609_1610delinsGT (p.Val537=)
c.4171_4172delinsGT (p.Val1391=)
c.4936_4937delinsGT (p.Val1646=)
c.5125_5126delinsGT (p.Val1709=)
c.4918_4919delinsGT (p.Val1640=)
c.1621_1622delinsGT (p.Val541=)
c.5122_5123delinsGT (p.Val1708=)
c.1446_1447delinsGT
c.1633_1634delinsGT (p.Val545=)
c.*4842_*4843delinsGT (n.*4842_*4843delinsGT)
n.212_213delinsGT
c.1372_1373delinsGT (p.Val458=)
c.5-3672_5-3671delinsGT (n.5-3672_5-3671delinsGT)
c.532_533delinsGT (p.Val178=)
c.-98-17433_-98-17432delinsGT (n.-98-17433_-98-17432delinsGT)
n.5195_5196delinsGT
n.5236_5237delinsGT
17g.43067622_43067623insGTTGCA658824724BRCA1c.5056_5057insCAAC (p.Val1686AlafsTer9)
c.5059_5060insCAAC (p.Val1687AlafsTer9)
c.4933_4934insCAAC (p.Val1645AlafsTer9)
c.5053_5054insCAAC (p.Val1685AlafsTer9)
c.4981_4982insCAAC (p.Val1661AlafsTer9)
c.1747_1748insCAAC (p.Val583AlafsTer9)
c.1609_1610insCAAC (p.Val537AlafsTer9)
c.4171_4172insCAAC (p.Val1391AlafsTer9)
c.4936_4937insCAAC (p.Val1646AlafsTer9)
c.5125_5126insCAAC (p.Val1709AlafsTer9)
c.4918_4919insCAAC (p.Val1640AlafsTer9)
c.1621_1622insCAAC (p.Val541AlafsTer9)
c.5122_5123insCAAC (p.Val1708AlafsTer9)
c.1446_1447insCAAC
c.1633_1634insCAAC (p.Val545AlafsTer9)
c.*4842_*4843insCAAC (n.*4842_*4843insCAAC)
n.212_213insCAAC
c.1372_1373insCAAC (p.Val458AlafsTer9)
c.5-3672_5-3671insCAAC (n.5-3672_5-3671insCAAC)
c.532_533insCAAC (p.Val178AlafsTer9)
c.-98-17433_-98-17432insCAAC (n.-98-17433_-98-17432insCAAC)
n.5195_5196insCAAC
n.5236_5237insCAAC
 ClinVar dbSNP
17g.43067623delCA658656683BRCA1c.5056del (p.Val1686LeufsTer3)
c.5059del (p.Val1687LeufsTer3)
c.4933del (p.Val1645LeufsTer3)
c.5053del (p.Val1685LeufsTer3)
c.4981del (p.Val1661LeufsTer3)
c.1747del (p.Val583LeufsTer3)
c.1609del (p.Val537LeufsTer3)
c.4171del (p.Val1391LeufsTer3)
c.4936del (p.Val1646LeufsTer3)
c.5125del (p.Val1709LeufsTer3)
c.4918del (p.Val1640LeufsTer3)
c.1621del (p.Val541LeufsTer3)
c.5122del (p.Val1708LeufsTer3)
c.1446del
c.1633del (p.Val545LeufsTer3)
c.*4842del (n.*4842del)
n.212del
c.1372del (p.Val458LeufsTer3)
c.5-3672del (n.5-3672del)
c.532del (p.Val178LeufsTer3)
c.-98-17433del (n.-98-17433del)
n.5195del
n.5236del
 ClinVar dbSNP
17g.43067623C>ACA10591401BRCA1c.5056G>T (p.Val1686Phe)
c.5059G>T (p.Val1687Phe)
c.4933G>T (p.Val1645Phe)
c.5053G>T (p.Val1685Phe)
c.4981G>T (p.Val1661Phe)
c.1747G>T (p.Val583Phe)
c.1609G>T (p.Val537Phe)
c.4171G>T (p.Val1391Phe)
c.4936G>T (p.Val1646Phe)
c.5125G>T (p.Val1709Phe)
c.4918G>T (p.Val1640Phe)
c.1621G>T (p.Val541Phe)
c.5122G>T (p.Val1708Phe)
c.1446G>T
c.1633G>T (p.Val545Phe)
c.*4842G>T (n.*4842G>T)
n.212G>T
c.1372G>T (p.Val458Phe)
c.5-3672G>T (n.5-3672G>T)
c.532G>T (p.Val178Phe)
c.-98-17433G>T (n.-98-17433G>T)
n.5195G>T
n.5236G>T
 ClinVar dbSNP
17g.43067623C=CA2260771326BRCA1c.5056G= (p.Val1686=)
c.5059G= (p.Val1687=)
c.4933G= (p.Val1645=)
c.5053G= (p.Val1685=)
c.4981G= (p.Val1661=)
c.1747G= (p.Val583=)
c.1609G= (p.Val537=)
c.4171G= (p.Val1391=)
c.4936G= (p.Val1646=)
c.5125G= (p.Val1709=)
c.4918G= (p.Val1640=)
c.1621G= (p.Val541=)
c.5122G= (p.Val1708=)
c.1446G=
c.1633G= (p.Val545=)
c.*4842G= (n.*4842G=)
n.212G=
c.1372G= (p.Val458=)
c.5-3672G= (n.5-3672G=)
c.532G= (p.Val178=)
c.-98-17433G= (n.-98-17433G=)
n.5195G=
n.5236G=
17g.43067623C>GCA10591402BRCA1c.5056G>C (p.Val1686Leu)
c.5059G>C (p.Val1687Leu)
c.4933G>C (p.Val1645Leu)
c.5053G>C (p.Val1685Leu)
c.4981G>C (p.Val1661Leu)
c.1747G>C (p.Val583Leu)
c.1609G>C (p.Val537Leu)
c.4171G>C (p.Val1391Leu)
c.4936G>C (p.Val1646Leu)
c.5125G>C (p.Val1709Leu)
c.4918G>C (p.Val1640Leu)
c.1621G>C (p.Val541Leu)
c.5122G>C (p.Val1708Leu)
c.1446G>C
c.1633G>C (p.Val545Leu)
c.*4842G>C (n.*4842G>C)
n.212G>C
c.1372G>C (p.Val458Leu)
c.5-3672G>C (n.5-3672G>C)
c.532G>C (p.Val178Leu)
c.-98-17433G>C (n.-98-17433G>C)
n.5195G>C
n.5236G>C
 ClinVar dbSNP
17g.43067623C>TCA10591403BRCA1c.5056G>A (p.Val1686Ile)
c.5059G>A (p.Val1687Ile)
c.4933G>A (p.Val1645Ile)
c.5053G>A (p.Val1685Ile)
c.4981G>A (p.Val1661Ile)
c.1747G>A (p.Val583Ile)
c.1609G>A (p.Val537Ile)
c.4171G>A (p.Val1391Ile)
c.4936G>A (p.Val1646Ile)
c.5125G>A (p.Val1709Ile)
c.4918G>A (p.Val1640Ile)
c.1621G>A (p.Val541Ile)
c.5122G>A (p.Val1708Ile)
c.1446G>A
c.1633G>A (p.Val545Ile)
c.*4842G>A (n.*4842G>A)
n.212G>A
c.1372G>A (p.Val458Ile)
c.5-3672G>A (n.5-3672G>A)
c.532G>A (p.Val178Ile)
c.-98-17433G>A (n.-98-17433G>A)
n.5195G>A
n.5236G>A
 ClinVar dbSNP
17g.43067623_43067624insGTTGCA10589623BRCA1c.5055_5056insCAAC (p.Val1686GlnfsTer9)
c.5058_5059insCAAC (p.Val1687GlnfsTer9)
c.4932_4933insCAAC (p.Val1645GlnfsTer9)
c.5052_5053insCAAC (p.Val1685GlnfsTer9)
c.4980_4981insCAAC (p.Val1661GlnfsTer9)
c.1746_1747insCAAC (p.Val583GlnfsTer9)
c.1608_1609insCAAC (p.Val537GlnfsTer9)
c.4170_4171insCAAC (p.Val1391GlnfsTer9)
c.4935_4936insCAAC (p.Val1646GlnfsTer9)
c.5124_5125insCAAC (p.Val1709GlnfsTer9)
c.4917_4918insCAAC (p.Val1640GlnfsTer9)
c.1620_1621insCAAC (p.Val541GlnfsTer9)
c.5121_5122insCAAC (p.Val1708GlnfsTer9)
c.1445_1446insCAAC
c.1632_1633insCAAC (p.Val545GlnfsTer9)
c.*4841_*4842insCAAC (n.*4841_*4842insCAAC)
n.211_212insCAAC
c.1371_1372insCAAC (p.Val458GlnfsTer9)
c.5-3673_5-3672insCAAC (n.5-3673_5-3672insCAAC)
c.531_532insCAAC (p.Val178GlnfsTer9)
c.-98-17434_-98-17433insCAAC (n.-98-17434_-98-17433insCAAC)
n.5194_5195insCAAC
n.5235_5236insCAAC
 ClinVar dbSNP
17g.43067624A=CA2260771327BRCA1c.5055T= (p.His1685=)
c.5058T= (p.His1686=)
c.4932T= (p.His1644=)
c.5052T= (p.His1684=)
c.4980T= (p.His1660=)
c.1746T= (p.His582=)
c.1608T= (p.His536=)
c.4170T= (p.His1390=)
c.4935T= (p.His1645=)
c.5124T= (p.His1708=)
c.4917T= (p.His1639=)
c.1620T= (p.His540=)
c.5121T= (p.His1707=)
c.1445T=
c.1632T= (p.His544=)
c.*4841T= (n.*4841T=)
n.211T=
c.1371T= (p.His457=)
c.5-3673T= (n.5-3673T=)
c.531T= (p.His177=)
c.-98-17434T= (n.-98-17434T=)
n.5194T=
n.5235T=
17g.43067624A>CCA10591404BRCA1c.5055T>G (p.His1685Gln)
c.5058T>G (p.His1686Gln)
c.4932T>G (p.His1644Gln)
c.5052T>G (p.His1684Gln)
c.4980T>G (p.His1660Gln)
c.1746T>G (p.His582Gln)
c.1608T>G (p.His536Gln)
c.4170T>G (p.His1390Gln)
c.4935T>G (p.His1645Gln)
c.5124T>G (p.His1708Gln)
c.4917T>G (p.His1639Gln)
c.1620T>G (p.His540Gln)
c.5121T>G (p.His1707Gln)
c.1445T>G
c.1632T>G (p.His544Gln)
c.*4841T>G (n.*4841T>G)
n.211T>G
c.1371T>G (p.His457Gln)
c.5-3673T>G (n.5-3673T>G)
c.531T>G (p.His177Gln)
c.-98-17434T>G (n.-98-17434T>G)
n.5194T>G
n.5235T>G
 ClinVar dbSNP
17g.43067624A>GCA053761BRCA1c.5055T>C (p.His1685=)
c.5058T>C (p.His1686=)
c.4932T>C (p.His1644=)
c.5052T>C (p.His1684=)
c.4980T>C (p.His1660=)
c.1746T>C (p.His582=)
c.1608T>C (p.His536=)
c.4170T>C (p.His1390=)
c.4935T>C (p.His1645=)
c.5124T>C (p.His1708=)
c.4917T>C (p.His1639=)
c.1620T>C (p.His540=)
c.5121T>C (p.His1707=)
c.1445T>C
c.1632T>C (p.His544=)
c.*4841T>C (n.*4841T>C)
n.211T>C
c.1371T>C (p.His457=)
c.5-3673T>C (n.5-3673T>C)
c.531T>C (p.His177=)
c.-98-17434T>C (n.-98-17434T>C)
n.5194T>C
n.5235T>C
 ClinVar dbSNP ExAC gnomAD v2
17g.43067624A>TCA003178BRCA1c.5055T>A (p.His1685Gln)
c.5058T>A (p.His1686Gln)
c.4932T>A (p.His1644Gln)
c.5052T>A (p.His1684Gln)
c.4980T>A (p.His1660Gln)
c.1746T>A (p.His582Gln)
c.1608T>A (p.His536Gln)
c.4170T>A (p.His1390Gln)
c.4935T>A (p.His1645Gln)
c.5124T>A (p.His1708Gln)
c.4917T>A (p.His1639Gln)
c.1620T>A (p.His540Gln)
c.5121T>A (p.His1707Gln)
c.1445T>A
c.1632T>A (p.His544Gln)
c.*4841T>A (n.*4841T>A)
n.211T>A
c.1371T>A (p.His457Gln)
c.5-3673T>A (n.5-3673T>A)
c.531T>A (p.His177Gln)
c.-98-17434T>A (n.-98-17434T>A)
n.5194T>A
n.5235T>A
 ClinVar dbSNP
17g.43067625T>ACA10591405BRCA1c.5054A>T (p.His1685Leu)
c.5057A>T (p.His1686Leu)
c.4931A>T (p.His1644Leu)
c.5051A>T (p.His1684Leu)
c.4979A>T (p.His1660Leu)
c.1745A>T (p.His582Leu)
c.1607A>T (p.His536Leu)
c.4169A>T (p.His1390Leu)
c.4934A>T (p.His1645Leu)
c.5123A>T (p.His1708Leu)
c.4916A>T (p.His1639Leu)
c.1619A>T (p.His540Leu)
c.5120A>T (p.His1707Leu)
c.1444A>T
c.1631A>T (p.His544Leu)
c.*4840A>T (n.*4840A>T)
n.210A>T
c.1370A>T (p.His457Leu)
c.5-3674A>T (n.5-3674A>T)
c.530A>T (p.His177Leu)
c.-98-17435A>T (n.-98-17435A>T)
n.5193A>T
n.5234A>T
 ClinVar dbSNP
17g.43067625T>CCA003177BRCA1c.5054A>G (p.His1685Arg)
c.5057A>G (p.His1686Arg)
c.4931A>G (p.His1644Arg)
c.5051A>G (p.His1684Arg)
c.4979A>G (p.His1660Arg)
c.1745A>G (p.His582Arg)
c.1607A>G (p.His536Arg)
c.4169A>G (p.His1390Arg)
c.4934A>G (p.His1645Arg)
c.5123A>G (p.His1708Arg)
c.4916A>G (p.His1639Arg)
c.1619A>G (p.His540Arg)
c.5120A>G (p.His1707Arg)
c.1444A>G
c.1631A>G (p.His544Arg)
c.*4840A>G (n.*4840A>G)
n.210A>G
c.1370A>G (p.His457Arg)
c.5-3674A>G (n.5-3674A>G)
c.530A>G (p.His177Arg)
c.-98-17435A>G (n.-98-17435A>G)
n.5193A>G
n.5234A>G
 ClinVar dbSNP gnomAD v4
17g.43067625T>GCA10591406BRCA1c.5054A>C (p.His1685Pro)
c.5057A>C (p.His1686Pro)
c.4931A>C (p.His1644Pro)
c.5051A>C (p.His1684Pro)
c.4979A>C (p.His1660Pro)
c.1745A>C (p.His582Pro)
c.1607A>C (p.His536Pro)
c.4169A>C (p.His1390Pro)
c.4934A>C (p.His1645Pro)
c.5123A>C (p.His1708Pro)
c.4916A>C (p.His1639Pro)
c.1619A>C (p.His540Pro)
c.5120A>C (p.His1707Pro)
c.1444A>C
c.1631A>C (p.His544Pro)
c.*4840A>C (n.*4840A>C)
n.210A>C
c.1370A>C (p.His457Pro)
c.5-3674A>C (n.5-3674A>C)
c.530A>C (p.His177Pro)
c.-98-17435A>C (n.-98-17435A>C)
n.5193A>C
n.5234A>C
 ClinVar dbSNP
17g.43067625T=CA2260771328BRCA1c.5054A= (p.His1685=)
c.5057A= (p.His1686=)
c.4931A= (p.His1644=)
c.5051A= (p.His1684=)
c.4979A= (p.His1660=)
c.1745A= (p.His582=)
c.1607A= (p.His536=)
c.4169A= (p.His1390=)
c.4934A= (p.His1645=)
c.5123A= (p.His1708=)
c.4916A= (p.His1639=)
c.1619A= (p.His540=)
c.5120A= (p.His1707=)
c.1444A=
c.1631A= (p.His544=)
c.*4840A= (n.*4840A=)
n.210A=
c.1370A= (p.His457=)
c.5-3674A= (n.5-3674A=)
c.530A= (p.His177=)
c.-98-17435A= (n.-98-17435A=)
n.5193A=
n.5234A=
17g.43067626_43067629dupCA10584549BRCA1c.5051_5054dup (p.Val1686SerfsTer9)
c.5054_5057dup (p.Val1687SerfsTer9)
c.4928_4931dup (p.Val1645SerfsTer9)
c.5048_5051dup (p.Val1685SerfsTer9)
c.4976_4979dup (p.Val1661SerfsTer9)
c.1742_1745dup (p.Val583SerfsTer9)
c.1604_1607dup (p.Val537SerfsTer9)
c.4166_4169dup (p.Val1391SerfsTer9)
c.4931_4934dup (p.Val1646SerfsTer9)
c.5120_5123dup (p.Val1709SerfsTer9)
c.4913_4916dup (p.Val1640SerfsTer9)
c.1616_1619dup (p.Val541SerfsTer9)
c.5117_5120dup (p.Val1708SerfsTer9)
c.1441_1444dup
c.1628_1631dup (p.Val545SerfsTer9)
c.*4837_*4840dup (n.*4837_*4840dup)
n.207_210dup
c.1367_1370dup (p.Val458SerfsTer9)
c.5-3677_5-3674dup (n.5-3677_5-3674dup)
c.527_530dup (p.Val178SerfsTer9)
c.-98-17438_-98-17435dup (n.-98-17438_-98-17435dup)
n.5190_5193dup
n.5231_5234dup
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43067626G>ACA10591407BRCA1c.5053C>T (p.His1685Tyr)
c.5056C>T (p.His1686Tyr)
c.4930C>T (p.His1644Tyr)
c.5050C>T (p.His1684Tyr)
c.4978C>T (p.His1660Tyr)
c.1744C>T (p.His582Tyr)
c.1606C>T (p.His536Tyr)
c.4168C>T (p.His1390Tyr)
c.4933C>T (p.His1645Tyr)
c.5122C>T (p.His1708Tyr)
c.4915C>T (p.His1639Tyr)
c.1618C>T (p.His540Tyr)
c.5119C>T (p.His1707Tyr)
c.1443C>T
c.1630C>T (p.His544Tyr)
c.*4839C>T (n.*4839C>T)
n.209C>T
c.1369C>T (p.His457Tyr)
c.5-3675C>T (n.5-3675C>T)
c.529C>T (p.His177Tyr)
c.-98-17436C>T (n.-98-17436C>T)
n.5192C>T
n.5233C>T
 ClinVar dbSNP
17g.43067626G>CCA10591408BRCA1c.5053C>G (p.His1685Asp)
c.5056C>G (p.His1686Asp)
c.4930C>G (p.His1644Asp)
c.5050C>G (p.His1684Asp)
c.4978C>G (p.His1660Asp)
c.1744C>G (p.His582Asp)
c.1606C>G (p.His536Asp)
c.4168C>G (p.His1390Asp)
c.4933C>G (p.His1645Asp)
c.5122C>G (p.His1708Asp)
c.4915C>G (p.His1639Asp)
c.1618C>G (p.His540Asp)
c.5119C>G (p.His1707Asp)
c.1443C>G
c.1630C>G (p.His544Asp)
c.*4839C>G (n.*4839C>G)
n.209C>G
c.1369C>G (p.His457Asp)
c.5-3675C>G (n.5-3675C>G)
c.529C>G (p.His177Asp)
c.-98-17436C>G (n.-98-17436C>G)
n.5192C>G
n.5233C>G
 ClinVar dbSNP
17g.43067626G=CA2260771329BRCA1c.5053C= (p.His1685=)
c.5056C= (p.His1686=)
c.4930C= (p.His1644=)
c.5050C= (p.His1684=)
c.4978C= (p.His1660=)
c.1744C= (p.His582=)
c.1606C= (p.His536=)
c.4168C= (p.His1390=)
c.4933C= (p.His1645=)
c.5122C= (p.His1708=)
c.4915C= (p.His1639=)
c.1618C= (p.His540=)
c.5119C= (p.His1707=)
c.1443C=
c.1630C= (p.His544=)
c.*4839C= (n.*4839C=)
n.209C=
c.1369C= (p.His457=)
c.5-3675C= (n.5-3675C=)
c.529C= (p.His177=)
c.-98-17436C= (n.-98-17436C=)
n.5192C=
n.5233C=
17g.43067626G>TCA10591409BRCA1c.5053C>A (p.His1685Asn)
c.5056C>A (p.His1686Asn)
c.4930C>A (p.His1644Asn)
c.5050C>A (p.His1684Asn)
c.4978C>A (p.His1660Asn)
c.1744C>A (p.His582Asn)
c.1606C>A (p.His536Asn)
c.4168C>A (p.His1390Asn)
c.4933C>A (p.His1645Asn)
c.5122C>A (p.His1708Asn)
c.4915C>A (p.His1639Asn)
c.1618C>A (p.His540Asn)
c.5119C>A (p.His1707Asn)
c.1443C>A
c.1630C>A (p.His544Asn)
c.*4839C>A (n.*4839C>A)
n.209C>A
c.1369C>A (p.His457Asn)
c.5-3675C>A (n.5-3675C>A)
c.529C>A (p.His177Asn)
c.-98-17436C>A (n.-98-17436C>A)
n.5192C>A
n.5233C>A
 ClinVar dbSNP
17g.43067626dupCA003176BRCA1c.5053dup (p.His1685ProfsTer9)
c.5056dup (p.His1686ProfsTer9)
c.4930dup (p.His1644ProfsTer9)
c.5050dup (p.His1684ProfsTer9)
c.4978dup (p.His1660ProfsTer9)
c.1744dup (p.His582ProfsTer9)
c.1606dup (p.His536ProfsTer9)
c.4168dup (p.His1390ProfsTer9)
c.4933dup (p.His1645ProfsTer9)
c.5122dup (p.His1708ProfsTer9)
c.4915dup (p.His1639ProfsTer9)
c.1618dup (p.His540ProfsTer9)
c.5119dup (p.His1707ProfsTer9)
c.1443dup
c.1630dup (p.His544ProfsTer9)
c.*4839dup (n.*4839dup)
n.209dup
c.1369dup (p.His457ProfsTer9)
c.5-3675dup (n.5-3675dup)
c.529dup (p.His177ProfsTer9)
c.-98-17436dup (n.-98-17436dup)
n.5192dup
n.5233dup
 ClinVar dbSNP
17g.43067627A=CA2260771330BRCA1c.5052T= (p.Thr1684=)
c.5055T= (p.Thr1685=)
c.4929T= (p.Thr1643=)
c.5049T= (p.Thr1683=)
c.4977T= (p.Thr1659=)
c.1743T= (p.Thr581=)
c.1605T= (p.Thr535=)
c.4167T= (p.Thr1389=)
c.4932T= (p.Thr1644=)
c.5121T= (p.Thr1707=)
c.4914T= (p.Thr1638=)
c.1617T= (p.Thr539=)
c.5118T= (p.Thr1706=)
c.1442T=
c.1629T= (p.Thr543=)
c.*4838T= (n.*4838T=)
n.208T=
c.1368T= (p.Thr456=)
c.5-3676T= (n.5-3676T=)
c.528T= (p.Thr176=)
c.-98-17437T= (n.-98-17437T=)
n.5191T=
n.5232T=
17g.43067627A>CCA16615657BRCA1c.5052T>G (p.Thr1684=)
c.5055T>G (p.Thr1685=)
c.4929T>G (p.Thr1643=)
c.5049T>G (p.Thr1683=)
c.4977T>G (p.Thr1659=)
c.1743T>G (p.Thr581=)
c.1605T>G (p.Thr535=)
c.4167T>G (p.Thr1389=)
c.4932T>G (p.Thr1644=)
c.5121T>G (p.Thr1707=)
c.4914T>G (p.Thr1638=)
c.1617T>G (p.Thr539=)
c.5118T>G (p.Thr1706=)
c.1442T>G
c.1629T>G (p.Thr543=)
c.*4838T>G (n.*4838T>G)
n.208T>G
c.1368T>G (p.Thr456=)
c.5-3676T>G (n.5-3676T>G)
c.528T>G (p.Thr176=)
c.-98-17437T>G (n.-98-17437T>G)
n.5191T>G
n.5232T>G
 ClinVar dbSNP
17g.43067627A>GCA500146319BRCA1c.5052T>C (p.Thr1684=)
c.5055T>C (p.Thr1685=)
c.4929T>C (p.Thr1643=)
c.5049T>C (p.Thr1683=)
c.4977T>C (p.Thr1659=)
c.1743T>C (p.Thr581=)
c.1605T>C (p.Thr535=)
c.4167T>C (p.Thr1389=)
c.4932T>C (p.Thr1644=)
c.5121T>C (p.Thr1707=)
c.4914T>C (p.Thr1638=)
c.1617T>C (p.Thr539=)
c.5118T>C (p.Thr1706=)
c.1442T>C
c.1629T>C (p.Thr543=)
c.*4838T>C (n.*4838T>C)
n.208T>C
c.1368T>C (p.Thr456=)
c.5-3676T>C (n.5-3676T>C)
c.528T>C (p.Thr176=)
c.-98-17437T>C (n.-98-17437T>C)
n.5191T>C
n.5232T>C
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
17g.43067627A>TCA500146321BRCA1c.5052T>A (p.Thr1684=)
c.5055T>A (p.Thr1685=)
c.4929T>A (p.Thr1643=)
c.5049T>A (p.Thr1683=)
c.4977T>A (p.Thr1659=)
c.1743T>A (p.Thr581=)
c.1605T>A (p.Thr535=)
c.4167T>A (p.Thr1389=)
c.4932T>A (p.Thr1644=)
c.5121T>A (p.Thr1707=)
c.4914T>A (p.Thr1638=)
c.1617T>A (p.Thr539=)
c.5118T>A (p.Thr1706=)
c.1442T>A
c.1629T>A (p.Thr543=)
c.*4838T>A (n.*4838T>A)
n.208T>A
c.1368T>A (p.Thr456=)
c.5-3676T>A (n.5-3676T>A)
c.528T>A (p.Thr176=)
c.-98-17437T>A (n.-98-17437T>A)
n.5191T>A
n.5232T>A
 ClinVar dbSNP
17g.43067628G>ACA003175BRCA1c.5051C>T (p.Thr1684Ile)
c.5054C>T (p.Thr1685Ile)
c.4928C>T (p.Thr1643Ile)
c.5048C>T (p.Thr1683Ile)
c.4976C>T (p.Thr1659Ile)
c.1742C>T (p.Thr581Ile)
c.1604C>T (p.Thr535Ile)
c.4166C>T (p.Thr1389Ile)
c.4931C>T (p.Thr1644Ile)
c.5120C>T (p.Thr1707Ile)
c.4913C>T (p.Thr1638Ile)
c.1616C>T (p.Thr539Ile)
c.5117C>T (p.Thr1706Ile)
c.1441C>T
c.1628C>T (p.Thr543Ile)
c.*4837C>T (n.*4837C>T)
n.207C>T
c.1367C>T (p.Thr456Ile)
c.5-3677C>T (n.5-3677C>T)
c.527C>T (p.Thr176Ile)
c.-98-17438C>T (n.-98-17438C>T)
n.5190C>T
n.5231C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43067628G>CCA10591410BRCA1c.5051C>G (p.Thr1684Ser)
c.5054C>G (p.Thr1685Ser)
c.4928C>G (p.Thr1643Ser)
c.5048C>G (p.Thr1683Ser)
c.4976C>G (p.Thr1659Ser)
c.1742C>G (p.Thr581Ser)
c.1604C>G (p.Thr535Ser)
c.4166C>G (p.Thr1389Ser)
c.4931C>G (p.Thr1644Ser)
c.5120C>G (p.Thr1707Ser)
c.4913C>G (p.Thr1638Ser)
c.1616C>G (p.Thr539Ser)
c.5117C>G (p.Thr1706Ser)
c.1441C>G
c.1628C>G (p.Thr543Ser)
c.*4837C>G (n.*4837C>G)
n.207C>G
c.1367C>G (p.Thr456Ser)
c.5-3677C>G (n.5-3677C>G)
c.527C>G (p.Thr176Ser)
c.-98-17438C>G (n.-98-17438C>G)
n.5190C>G
n.5231C>G
 ClinVar dbSNP
17g.43067628G=CA2260771331BRCA1c.5051C= (p.Thr1684=)
c.5054C= (p.Thr1685=)
c.4928C= (p.Thr1643=)
c.5048C= (p.Thr1683=)
c.4976C= (p.Thr1659=)
c.1742C= (p.Thr581=)
c.1604C= (p.Thr535=)
c.4166C= (p.Thr1389=)
c.4931C= (p.Thr1644=)
c.5120C= (p.Thr1707=)
c.4913C= (p.Thr1638=)
c.1616C= (p.Thr539=)
c.5117C= (p.Thr1706=)
c.1441C=
c.1628C= (p.Thr543=)
c.*4837C= (n.*4837C=)
n.207C=
c.1367C= (p.Thr456=)
c.5-3677C= (n.5-3677C=)
c.527C= (p.Thr176=)
c.-98-17438C= (n.-98-17438C=)
n.5190C=
n.5231C=
17g.43067628G>TCA10591411BRCA1c.5051C>A (p.Thr1684Asn)
c.5054C>A (p.Thr1685Asn)
c.4928C>A (p.Thr1643Asn)
c.5048C>A (p.Thr1683Asn)
c.4976C>A (p.Thr1659Asn)
c.1742C>A (p.Thr581Asn)
c.1604C>A (p.Thr535Asn)
c.4166C>A (p.Thr1389Asn)
c.4931C>A (p.Thr1644Asn)
c.5120C>A (p.Thr1707Asn)
c.4913C>A (p.Thr1638Asn)
c.1616C>A (p.Thr539Asn)
c.5117C>A (p.Thr1706Asn)
c.1441C>A
c.1628C>A (p.Thr543Asn)
c.*4837C>A (n.*4837C>A)
n.207C>A
c.1367C>A (p.Thr456Asn)
c.5-3677C>A (n.5-3677C>A)
c.527C>A (p.Thr176Asn)
c.-98-17438C>A (n.-98-17438C>A)
n.5190C>A
n.5231C>A
 ClinVar dbSNP
17g.43067629T>ACA10591412BRCA1c.5050A>T (p.Thr1684Ser)
c.5053A>T (p.Thr1685Ser)
c.4927A>T (p.Thr1643Ser)
c.5047A>T (p.Thr1683Ser)
c.4975A>T (p.Thr1659Ser)
c.1741A>T (p.Thr581Ser)
c.1603A>T (p.Thr535Ser)
c.4165A>T (p.Thr1389Ser)
c.4930A>T (p.Thr1644Ser)
c.5119A>T (p.Thr1707Ser)
c.4912A>T (p.Thr1638Ser)
c.1615A>T (p.Thr539Ser)
c.5116A>T (p.Thr1706Ser)
c.1440A>T
c.1627A>T (p.Thr543Ser)
c.*4836A>T (n.*4836A>T)
n.206A>T
c.1366A>T (p.Thr456Ser)
c.5-3678A>T (n.5-3678A>T)
c.526A>T (p.Thr176Ser)
c.-98-17439A>T (n.-98-17439A>T)
n.5189A>T
n.5230A>T
 ClinVar dbSNP
17g.43067629T>CCA003174BRCA1c.5050A>G (p.Thr1684Ala)
c.5053A>G (p.Thr1685Ala)
c.4927A>G (p.Thr1643Ala)
c.5047A>G (p.Thr1683Ala)
c.4975A>G (p.Thr1659Ala)
c.1741A>G (p.Thr581Ala)
c.1603A>G (p.Thr535Ala)
c.4165A>G (p.Thr1389Ala)
c.4930A>G (p.Thr1644Ala)
c.5119A>G (p.Thr1707Ala)
c.4912A>G (p.Thr1638Ala)
c.1615A>G (p.Thr539Ala)
c.5116A>G (p.Thr1706Ala)
c.1440A>G
c.1627A>G (p.Thr543Ala)
c.*4836A>G (n.*4836A>G)
n.206A>G
c.1366A>G (p.Thr456Ala)
c.5-3678A>G (n.5-3678A>G)
c.526A>G (p.Thr176Ala)
c.-98-17439A>G (n.-98-17439A>G)
n.5189A>G
n.5230A>G
 ClinVar dbSNP
17g.43067629T>GCA10591413BRCA1c.5050A>C (p.Thr1684Pro)
c.5053A>C (p.Thr1685Pro)
c.4927A>C (p.Thr1643Pro)
c.5047A>C (p.Thr1683Pro)
c.4975A>C (p.Thr1659Pro)
c.1741A>C (p.Thr581Pro)
c.1603A>C (p.Thr535Pro)
c.4165A>C (p.Thr1389Pro)
c.4930A>C (p.Thr1644Pro)
c.5119A>C (p.Thr1707Pro)
c.4912A>C (p.Thr1638Pro)
c.1615A>C (p.Thr539Pro)
c.5116A>C (p.Thr1706Pro)
c.1440A>C
c.1627A>C (p.Thr543Pro)
c.*4836A>C (n.*4836A>C)
n.206A>C
c.1366A>C (p.Thr456Pro)
c.5-3678A>C (n.5-3678A>C)
c.526A>C (p.Thr176Pro)
c.-98-17439A>C (n.-98-17439A>C)
n.5189A>C
n.5230A>C
 ClinVar dbSNP
17g.43067629T=CA2260771332BRCA1c.5050A= (p.Thr1684=)
c.5053A= (p.Thr1685=)
c.4927A= (p.Thr1643=)
c.5047A= (p.Thr1683=)
c.4975A= (p.Thr1659=)
c.1741A= (p.Thr581=)
c.1603A= (p.Thr535=)
c.4165A= (p.Thr1389=)
c.4930A= (p.Thr1644=)
c.5119A= (p.Thr1707=)
c.4912A= (p.Thr1638=)
c.1615A= (p.Thr539=)
c.5116A= (p.Thr1706=)
c.1440A=
c.1627A= (p.Thr543=)
c.*4836A= (n.*4836A=)
n.206A=
c.1366A= (p.Thr456=)
c.5-3678A= (n.5-3678A=)
c.526A= (p.Thr176=)
c.-98-17439A= (n.-98-17439A=)
n.5189A=
n.5230A=
17g.43067629_43067630dupCA915950096BRCA1c.5049_5050dup (p.Thr1684IlefsTer6)
c.5052_5053dup (p.Thr1685IlefsTer6)
c.4926_4927dup (p.Thr1643IlefsTer6)
c.5046_5047dup (p.Thr1683IlefsTer6)
c.4974_4975dup (p.Thr1659IlefsTer6)
c.1740_1741dup (p.Thr581IlefsTer6)
c.1602_1603dup (p.Thr535IlefsTer6)
c.4164_4165dup (p.Thr1389IlefsTer6)
c.4929_4930dup (p.Thr1644IlefsTer6)
c.5118_5119dup (p.Thr1707IlefsTer6)
c.4911_4912dup (p.Thr1638IlefsTer6)
c.1614_1615dup (p.Thr539IlefsTer6)
c.5115_5116dup (p.Thr1706IlefsTer6)
c.1439_1440dup
c.1626_1627dup (p.Thr543IlefsTer6)
c.*4835_*4836dup (n.*4835_*4836dup)
n.205_206dup
c.1365_1366dup (p.Thr456IlefsTer6)
c.5-3679_5-3678dup (n.5-3679_5-3678dup)
c.525_526dup (p.Thr176IlefsTer6)
c.-98-17440_-98-17439dup (n.-98-17440_-98-17439dup)
n.5188_5189dup
n.5229_5230dup
 ClinVar dbSNP
17g.43067630A=CA2260771335BRCA1c.5049T= (p.Thr1683=)
c.5052T= (p.Thr1684=)
c.4926T= (p.Thr1642=)
c.5046T= (p.Thr1682=)
c.4974T= (p.Thr1658=)
c.1740T= (p.Thr580=)
c.1602T= (p.Thr534=)
c.4164T= (p.Thr1388=)
c.4929T= (p.Thr1643=)
c.5118T= (p.Thr1706=)
c.4911T= (p.Thr1637=)
c.1614T= (p.Thr538=)
c.5115T= (p.Thr1705=)
c.1439T=
c.1626T= (p.Thr542=)
c.*4835T= (n.*4835T=)
n.205T=
c.1365T= (p.Thr455=)
c.5-3679T= (n.5-3679T=)
c.525T= (p.Thr175=)
c.-98-17440T= (n.-98-17440T=)
n.5188T=
n.5229T=
17g.43067630A>CCA500146323BRCA1c.5049T>G (p.Thr1683=)
c.5052T>G (p.Thr1684=)
c.4926T>G (p.Thr1642=)
c.5046T>G (p.Thr1682=)
c.4974T>G (p.Thr1658=)
c.1740T>G (p.Thr580=)
c.1602T>G (p.Thr534=)
c.4164T>G (p.Thr1388=)
c.4929T>G (p.Thr1643=)
c.5118T>G (p.Thr1706=)
c.4911T>G (p.Thr1637=)
c.1614T>G (p.Thr538=)
c.5115T>G (p.Thr1705=)
c.1439T>G
c.1626T>G (p.Thr542=)
c.*4835T>G (n.*4835T>G)
n.205T>G
c.1365T>G (p.Thr455=)
c.5-3679T>G (n.5-3679T>G)
c.525T>G (p.Thr175=)
c.-98-17440T>G (n.-98-17440T>G)
n.5188T>G
n.5229T>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43067630A>GCA053747BRCA1c.5049T>C (p.Thr1683=)
c.5052T>C (p.Thr1684=)
c.4926T>C (p.Thr1642=)
c.5046T>C (p.Thr1682=)
c.4974T>C (p.Thr1658=)
c.1740T>C (p.Thr580=)
c.1602T>C (p.Thr534=)
c.4164T>C (p.Thr1388=)
c.4929T>C (p.Thr1643=)
c.5118T>C (p.Thr1706=)
c.4911T>C (p.Thr1637=)
c.1614T>C (p.Thr538=)
c.5115T>C (p.Thr1705=)
c.1439T>C
c.1626T>C (p.Thr542=)
c.*4835T>C (n.*4835T>C)
n.205T>C
c.1365T>C (p.Thr455=)
c.5-3679T>C (n.5-3679T>C)
c.525T>C (p.Thr175=)
c.-98-17440T>C (n.-98-17440T>C)
n.5188T>C
n.5229T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43067630A>TCA500146326BRCA1c.5049T>A (p.Thr1683=)
c.5052T>A (p.Thr1684=)
c.4926T>A (p.Thr1642=)
c.5046T>A (p.Thr1682=)
c.4974T>A (p.Thr1658=)
c.1740T>A (p.Thr580=)
c.1602T>A (p.Thr534=)
c.4164T>A (p.Thr1388=)
c.4929T>A (p.Thr1643=)
c.5118T>A (p.Thr1706=)
c.4911T>A (p.Thr1637=)
c.1614T>A (p.Thr538=)
c.5115T>A (p.Thr1705=)
c.1439T>A
c.1626T>A (p.Thr542=)
c.*4835T>A (n.*4835T>A)
n.205T>A
c.1365T>A (p.Thr455=)
c.5-3679T>A (n.5-3679T>A)
c.525T>A (p.Thr175=)
c.-98-17440T>A (n.-98-17440T>A)
n.5188T>A
n.5229T>A
 ClinVar dbSNP gnomAD v4
17g.43067630_43067631delinsAGCA2260771334BRCA1c.5048_5049delinsCT (p.Thr1683=)
c.5051_5052delinsCT (p.Thr1684=)
c.4925_4926delinsCT (p.Thr1642=)
c.5045_5046delinsCT (p.Thr1682=)
c.4973_4974delinsCT (p.Thr1658=)
c.1739_1740delinsCT (p.Thr580=)
c.1601_1602delinsCT (p.Thr534=)
c.4163_4164delinsCT (p.Thr1388=)
c.4928_4929delinsCT (p.Thr1643=)
c.5117_5118delinsCT (p.Thr1706=)
c.4910_4911delinsCT (p.Thr1637=)
c.1613_1614delinsCT (p.Thr538=)
c.5114_5115delinsCT (p.Thr1705=)
c.1438_1439delinsCT
c.1625_1626delinsCT (p.Thr542=)
c.*4834_*4835delinsCT (n.*4834_*4835delinsCT)
n.204_205delinsCT
c.1364_1365delinsCT (p.Thr455=)
c.5-3680_5-3679delinsCT (n.5-3680_5-3679delinsCT)
c.524_525delinsCT (p.Thr175=)
c.-98-17441_-98-17440delinsCT (n.-98-17441_-98-17440delinsCT)
n.5187_5188delinsCT
n.5228_5229delinsCT
17g.43067630_43067631dupCA2580093977BRCA1c.5048_5049dup (p.Thr1684LeufsTer6)
c.5051_5052dup (p.Thr1685LeufsTer6)
c.4925_4926dup (p.Thr1643LeufsTer6)
c.5045_5046dup (p.Thr1683LeufsTer6)
c.4973_4974dup (p.Thr1659LeufsTer6)
c.1739_1740dup (p.Thr581LeufsTer6)
c.1601_1602dup (p.Thr535LeufsTer6)
c.4163_4164dup (p.Thr1389LeufsTer6)
c.4928_4929dup (p.Thr1644LeufsTer6)
c.5117_5118dup (p.Thr1707LeufsTer6)
c.4910_4911dup (p.Thr1638LeufsTer6)
c.1613_1614dup (p.Thr539LeufsTer6)
c.5114_5115dup (p.Thr1706LeufsTer6)
c.1438_1439dup
c.1625_1626dup (p.Thr543LeufsTer6)
c.*4834_*4835dup (n.*4834_*4835dup)
n.204_205dup
c.1364_1365dup (p.Thr456LeufsTer6)
c.5-3680_5-3679dup (n.5-3680_5-3679dup)
c.524_525dup (p.Thr176LeufsTer6)
c.-98-17441_-98-17440dup (n.-98-17441_-98-17440dup)
n.5187_5188dup
n.5228_5229dup
 ClinVar
17g.43067630_43067632delinsAGTCA2260771333BRCA1c.5047_5049delinsACT (p.Thr1683=)
c.5050_5052delinsACT (p.Thr1684=)
c.4924_4926delinsACT (p.Thr1642=)
c.5044_5046delinsACT (p.Thr1682=)
c.4972_4974delinsACT (p.Thr1658=)
c.1738_1740delinsACT (p.Thr580=)
c.1600_1602delinsACT (p.Thr534=)
c.4162_4164delinsACT (p.Thr1388=)
c.4927_4929delinsACT (p.Thr1643=)
c.5116_5118delinsACT (p.Thr1706=)
c.4909_4911delinsACT (p.Thr1637=)
c.1612_1614delinsACT (p.Thr538=)
c.5113_5115delinsACT (p.Thr1705=)
c.1437_1439delinsACT
c.1624_1626delinsACT (p.Thr542=)
c.*4833_*4835delinsACT (n.*4833_*4835delinsACT)
n.203_205delinsACT
c.1363_1365delinsACT (p.Thr455=)
c.5-3681_5-3679delinsACT (n.5-3681_5-3679delinsACT)
c.523_525delinsACT (p.Thr175=)
c.-98-17442_-98-17440delinsACT (n.-98-17442_-98-17440delinsACT)
n.5186_5188delinsACT
n.5227_5229delinsACT
17g.43067631delCA645373160BRCA1c.5048del (p.Thr1683IlefsTer6)
c.5051del (p.Thr1684IlefsTer6)
c.4925del (p.Thr1642IlefsTer6)
c.5045del (p.Thr1682IlefsTer6)
c.4973del (p.Thr1658IlefsTer6)
c.1739del (p.Thr580IlefsTer6)
c.1601del (p.Thr534IlefsTer6)
c.4163del (p.Thr1388IlefsTer6)
c.4928del (p.Thr1643IlefsTer6)
c.5117del (p.Thr1706IlefsTer6)
c.4910del (p.Thr1637IlefsTer6)
c.1613del (p.Thr538IlefsTer6)
c.5114del (p.Thr1705IlefsTer6)
c.1438del
c.1625del (p.Thr542IlefsTer6)
c.*4834del (n.*4834del)
n.204del
c.1364del (p.Thr455IlefsTer6)
c.5-3680del (n.5-3680del)
c.524del (p.Thr175IlefsTer6)
c.-98-17441del (n.-98-17441del)
n.5187del
n.5228del
 ClinVar dbSNP
17g.43067631G>ACA10591414BRCA1c.5048C>T (p.Thr1683Ile)
c.5051C>T (p.Thr1684Ile)
c.4925C>T (p.Thr1642Ile)
c.5045C>T (p.Thr1682Ile)
c.4973C>T (p.Thr1658Ile)
c.1739C>T (p.Thr580Ile)
c.1601C>T (p.Thr534Ile)
c.4163C>T (p.Thr1388Ile)
c.4928C>T (p.Thr1643Ile)
c.5117C>T (p.Thr1706Ile)
c.4910C>T (p.Thr1637Ile)
c.1613C>T (p.Thr538Ile)
c.5114C>T (p.Thr1705Ile)
c.1438C>T
c.1625C>T (p.Thr542Ile)
c.*4834C>T (n.*4834C>T)
n.204C>T
c.1364C>T (p.Thr455Ile)
c.5-3680C>T (n.5-3680C>T)
c.524C>T (p.Thr175Ile)
c.-98-17441C>T (n.-98-17441C>T)
n.5187C>T
n.5228C>T
 ClinVar dbSNP
17g.43067631G>CCA10591415BRCA1c.5048C>G (p.Thr1683Ser)
c.5051C>G (p.Thr1684Ser)
c.4925C>G (p.Thr1642Ser)
c.5045C>G (p.Thr1682Ser)
c.4973C>G (p.Thr1658Ser)
c.1739C>G (p.Thr580Ser)
c.1601C>G (p.Thr534Ser)
c.4163C>G (p.Thr1388Ser)
c.4928C>G (p.Thr1643Ser)
c.5117C>G (p.Thr1706Ser)
c.4910C>G (p.Thr1637Ser)
c.1613C>G (p.Thr538Ser)
c.5114C>G (p.Thr1705Ser)
c.1438C>G
c.1625C>G (p.Thr542Ser)
c.*4834C>G (n.*4834C>G)
n.204C>G
c.1364C>G (p.Thr455Ser)
c.5-3680C>G (n.5-3680C>G)
c.524C>G (p.Thr175Ser)
c.-98-17441C>G (n.-98-17441C>G)
n.5187C>G
n.5228C>G
 ClinVar dbSNP
17g.43067631G=CA2260771336BRCA1c.5048C= (p.Thr1683=)
c.5051C= (p.Thr1684=)
c.4925C= (p.Thr1642=)
c.5045C= (p.Thr1682=)
c.4973C= (p.Thr1658=)
c.1739C= (p.Thr580=)
c.1601C= (p.Thr534=)
c.4163C= (p.Thr1388=)
c.4928C= (p.Thr1643=)
c.5117C= (p.Thr1706=)
c.4910C= (p.Thr1637=)
c.1613C= (p.Thr538=)
c.5114C= (p.Thr1705=)
c.1438C=
c.1625C= (p.Thr542=)
c.*4834C= (n.*4834C=)
n.204C=
c.1364C= (p.Thr455=)
c.5-3680C= (n.5-3680C=)
c.524C= (p.Thr175=)
c.-98-17441C= (n.-98-17441C=)
n.5187C=
n.5228C=
17g.43067631G>TCA10591416BRCA1c.5048C>A (p.Thr1683Asn)
c.5051C>A (p.Thr1684Asn)
c.4925C>A (p.Thr1642Asn)
c.5045C>A (p.Thr1682Asn)
c.4973C>A (p.Thr1658Asn)
c.1739C>A (p.Thr580Asn)
c.1601C>A (p.Thr534Asn)
c.4163C>A (p.Thr1388Asn)
c.4928C>A (p.Thr1643Asn)
c.5117C>A (p.Thr1706Asn)
c.4910C>A (p.Thr1637Asn)
c.1613C>A (p.Thr538Asn)
c.5114C>A (p.Thr1705Asn)
c.1438C>A
c.1625C>A (p.Thr542Asn)
c.*4834C>A (n.*4834C>A)
n.204C>A
c.1364C>A (p.Thr455Asn)
c.5-3680C>A (n.5-3680C>A)
c.524C>A (p.Thr175Asn)
c.-98-17441C>A (n.-98-17441C>A)
n.5187C>A
n.5228C>A
 ClinVar dbSNP
17g.43067631_43067632delCA10585908BRCA1c.5047_5048del (p.Thr1683TyrfsTer10)
c.5050_5051del (p.Thr1684TyrfsTer10)
c.4924_4925del (p.Thr1642TyrfsTer10)
c.5044_5045del (p.Thr1682TyrfsTer10)
c.4972_4973del (p.Thr1658TyrfsTer10)
c.1738_1739del (p.Thr580TyrfsTer10)
c.1600_1601del (p.Thr534TyrfsTer10)
c.4162_4163del (p.Thr1388TyrfsTer10)
c.4927_4928del (p.Thr1643TyrfsTer10)
c.5116_5117del (p.Thr1706TyrfsTer10)
c.4909_4910del (p.Thr1637TyrfsTer10)
c.1612_1613del (p.Thr538TyrfsTer10)
c.5113_5114del (p.Thr1705TyrfsTer10)
c.1437_1438del
c.1624_1625del (p.Thr542TyrfsTer10)
c.*4833_*4834del (n.*4833_*4834del)
n.203_204del
c.1363_1364del (p.Thr455TyrfsTer10)
c.5-3681_5-3680del (n.5-3681_5-3680del)
c.523_524del (p.Thr175TyrfsTer10)
c.-98-17442_-98-17441del (n.-98-17442_-98-17441del)
n.5186_5187del
n.5227_5228del
 ClinVar dbSNP
17g.43067632T>ACA10591417BRCA1c.5047A>T (p.Thr1683Ser)
c.5050A>T (p.Thr1684Ser)
c.4924A>T (p.Thr1642Ser)
c.5044A>T (p.Thr1682Ser)
c.4972A>T (p.Thr1658Ser)
c.1738A>T (p.Thr580Ser)
c.1600A>T (p.Thr534Ser)
c.4162A>T (p.Thr1388Ser)
c.4927A>T (p.Thr1643Ser)
c.5116A>T (p.Thr1706Ser)
c.4909A>T (p.Thr1637Ser)
c.1612A>T (p.Thr538Ser)
c.5113A>T (p.Thr1705Ser)
c.1437A>T
c.1624A>T (p.Thr542Ser)
c.*4833A>T (n.*4833A>T)
n.203A>T
c.1363A>T (p.Thr455Ser)
c.5-3681A>T (n.5-3681A>T)
c.523A>T (p.Thr175Ser)
c.-98-17442A>T (n.-98-17442A>T)
n.5186A>T
n.5227A>T
 ClinVar dbSNP
17g.43067632T>CCA10591418BRCA1c.5047A>G (p.Thr1683Ala)
c.5050A>G (p.Thr1684Ala)
c.4924A>G (p.Thr1642Ala)
c.5044A>G (p.Thr1682Ala)
c.4972A>G (p.Thr1658Ala)
c.1738A>G (p.Thr580Ala)
c.1600A>G (p.Thr534Ala)
c.4162A>G (p.Thr1388Ala)
c.4927A>G (p.Thr1643Ala)
c.5116A>G (p.Thr1706Ala)
c.4909A>G (p.Thr1637Ala)
c.1612A>G (p.Thr538Ala)
c.5113A>G (p.Thr1705Ala)
c.1437A>G
c.1624A>G (p.Thr542Ala)
c.*4833A>G (n.*4833A>G)
n.203A>G
c.1363A>G (p.Thr455Ala)
c.5-3681A>G (n.5-3681A>G)
c.523A>G (p.Thr175Ala)
c.-98-17442A>G (n.-98-17442A>G)
n.5186A>G
n.5227A>G
 ClinVar dbSNP
17g.43067632T>GCA10586111BRCA1c.5047A>C (p.Thr1683Pro)
c.5050A>C (p.Thr1684Pro)
c.4924A>C (p.Thr1642Pro)
c.5044A>C (p.Thr1682Pro)
c.4972A>C (p.Thr1658Pro)
c.1738A>C (p.Thr580Pro)
c.1600A>C (p.Thr534Pro)
c.4162A>C (p.Thr1388Pro)
c.4927A>C (p.Thr1643Pro)
c.5116A>C (p.Thr1706Pro)
c.4909A>C (p.Thr1637Pro)
c.1612A>C (p.Thr538Pro)
c.5113A>C (p.Thr1705Pro)
c.1437A>C
c.1624A>C (p.Thr542Pro)
c.*4833A>C (n.*4833A>C)
n.203A>C
c.1363A>C (p.Thr455Pro)
c.5-3681A>C (n.5-3681A>C)
c.523A>C (p.Thr175Pro)
c.-98-17442A>C (n.-98-17442A>C)
n.5186A>C
n.5227A>C
 ClinVar dbSNP
17g.43067632T=CA2260771337BRCA1c.5047A= (p.Thr1683=)
c.5050A= (p.Thr1684=)
c.4924A= (p.Thr1642=)
c.5044A= (p.Thr1682=)
c.4972A= (p.Thr1658=)
c.1738A= (p.Thr580=)
c.1600A= (p.Thr534=)
c.4162A= (p.Thr1388=)
c.4927A= (p.Thr1643=)
c.5116A= (p.Thr1706=)
c.4909A= (p.Thr1637=)
c.1612A= (p.Thr538=)
c.5113A= (p.Thr1705=)
c.1437A=
c.1624A= (p.Thr542=)
c.*4833A= (n.*4833A=)
n.203A=
c.1363A= (p.Thr455=)
c.5-3681A= (n.5-3681A=)
c.523A= (p.Thr175=)
c.-98-17442A= (n.-98-17442A=)
n.5186A=
n.5227A=
17g.43067635_43067636dupCA2580612637BRCA1c.5046_5047dup (p.Thr1683ArgfsTer7)
c.5049_5050dup (p.Thr1684ArgfsTer7)
c.4923_4924dup (p.Thr1642ArgfsTer7)
c.5043_5044dup (p.Thr1682ArgfsTer7)
c.4971_4972dup (p.Thr1658ArgfsTer7)
c.1737_1738dup (p.Thr580ArgfsTer7)
c.1599_1600dup (p.Thr534ArgfsTer7)
c.4161_4162dup (p.Thr1388ArgfsTer7)
c.4926_4927dup (p.Thr1643ArgfsTer7)
c.5115_5116dup (p.Thr1706ArgfsTer7)
c.4908_4909dup (p.Thr1637ArgfsTer7)
c.1611_1612dup (p.Thr538ArgfsTer7)
c.5112_5113dup (p.Thr1705ArgfsTer7)
c.1436_1437dup
c.1623_1624dup (p.Thr542ArgfsTer7)
c.*4832_*4833dup (n.*4832_*4833dup)
n.202_203dup
c.1362_1363dup (p.Thr455ArgfsTer7)
c.5-3682_5-3681dup (n.5-3682_5-3681dup)
c.522_523dup (p.Thr175ArgfsTer7)
c.-98-17443_-98-17442dup (n.-98-17443_-98-17442dup)
n.5185_5186dup
n.5226_5227dup
 ClinVar dbSNP
17g.43067633C>ACA10591419BRCA1c.5046G>T (p.Glu1682Asp)
c.5049G>T (p.Glu1683Asp)
c.4923G>T (p.Glu1641Asp)
c.5043G>T (p.Glu1681Asp)
c.4971G>T (p.Glu1657Asp)
c.1737G>T (p.Glu579Asp)
c.1599G>T (p.Glu533Asp)
c.4161G>T (p.Glu1387Asp)
c.4926G>T (p.Glu1642Asp)
c.5115G>T (p.Glu1705Asp)
c.4908G>T (p.Glu1636Asp)
c.1611G>T (p.Glu537Asp)
c.5112G>T (p.Glu1704Asp)
c.1436G>T
c.1623G>T (p.Glu541Asp)
c.*4832G>T (n.*4832G>T)
n.202G>T
c.1362G>T (p.Glu454Asp)
c.5-3682G>T (n.5-3682G>T)
c.522G>T (p.Glu174Asp)
c.-98-17443G>T (n.-98-17443G>T)
n.5185G>T
n.5226G>T
 ClinVar dbSNP
17g.43067633C=CA2260771338BRCA1c.5046G= (p.Glu1682=)
c.5049G= (p.Glu1683=)
c.4923G= (p.Glu1641=)
c.5043G= (p.Glu1681=)
c.4971G= (p.Glu1657=)
c.1737G= (p.Glu579=)
c.1599G= (p.Glu533=)
c.4161G= (p.Glu1387=)
c.4926G= (p.Glu1642=)
c.5115G= (p.Glu1705=)
c.4908G= (p.Glu1636=)
c.1611G= (p.Glu537=)
c.5112G= (p.Glu1704=)
c.1436G=
c.1623G= (p.Glu541=)
c.*4832G= (n.*4832G=)
n.202G=
c.1362G= (p.Glu454=)
c.5-3682G= (n.5-3682G=)
c.522G= (p.Glu174=)
c.-98-17443G= (n.-98-17443G=)
n.5185G=
n.5226G=
17g.43067633C>GCA10591420BRCA1c.5046G>C (p.Glu1682Asp)
c.5049G>C (p.Glu1683Asp)
c.4923G>C (p.Glu1641Asp)
c.5043G>C (p.Glu1681Asp)
c.4971G>C (p.Glu1657Asp)
c.1737G>C (p.Glu579Asp)
c.1599G>C (p.Glu533Asp)
c.4161G>C (p.Glu1387Asp)
c.4926G>C (p.Glu1642Asp)
c.5115G>C (p.Glu1705Asp)
c.4908G>C (p.Glu1636Asp)
c.1611G>C (p.Glu537Asp)
c.5112G>C (p.Glu1704Asp)
c.1436G>C
c.1623G>C (p.Glu541Asp)
c.*4832G>C (n.*4832G>C)
n.202G>C
c.1362G>C (p.Glu454Asp)
c.5-3682G>C (n.5-3682G>C)
c.522G>C (p.Glu174Asp)
c.-98-17443G>C (n.-98-17443G>C)
n.5185G>C
n.5226G>C
 ClinVar dbSNP
17g.43067633C>TCA500146330BRCA1c.5046G>A (p.Glu1682=)
c.5049G>A (p.Glu1683=)
c.4923G>A (p.Glu1641=)
c.5043G>A (p.Glu1681=)
c.4971G>A (p.Glu1657=)
c.1737G>A (p.Glu579=)
c.1599G>A (p.Glu533=)
c.4161G>A (p.Glu1387=)
c.4926G>A (p.Glu1642=)
c.5115G>A (p.Glu1705=)
c.4908G>A (p.Glu1636=)
c.1611G>A (p.Glu537=)
c.5112G>A (p.Glu1704=)
c.1436G>A
c.1623G>A (p.Glu541=)
c.*4832G>A (n.*4832G>A)
n.202G>A
c.1362G>A (p.Glu454=)
c.5-3682G>A (n.5-3682G>A)
c.522G>A (p.Glu174=)
c.-98-17443G>A (n.-98-17443G>A)
n.5185G>A
n.5226G>A
 ClinVar dbSNP
17g.43067633_43067638delinsCTCTTCCA2260771339BRCA1c.5041_5046delinsGAAGAG (p.Glu1681=)
c.5044_5049delinsGAAGAG (p.Glu1682=)
c.4918_4923delinsGAAGAG (p.Glu1640=)
c.5038_5043delinsGAAGAG (p.Glu1680=)
c.4966_4971delinsGAAGAG (p.Glu1656=)
c.1732_1737delinsGAAGAG (p.Glu578=)
c.1594_1599delinsGAAGAG (p.Glu532=)
c.4156_4161delinsGAAGAG (p.Glu1386=)
c.4921_4926delinsGAAGAG (p.Glu1641=)
c.5110_5115delinsGAAGAG (p.Glu1704=)
c.4903_4908delinsGAAGAG (p.Glu1635=)
c.1606_1611delinsGAAGAG (p.Glu536=)
c.5107_5112delinsGAAGAG (p.Glu1703=)
c.1431_1436delinsGAAGAG
c.1618_1623delinsGAAGAG (p.Glu540=)
c.*4827_*4832delinsGAAGAG (n.*4827_*4832delinsGAAGAG)
n.197_202delinsGAAGAG
c.1357_1362delinsGAAGAG (p.Glu453=)
c.5-3687_5-3682delinsGAAGAG (n.5-3687_5-3682delinsGAAGAG)
c.517_522delinsGAAGAG (p.Glu173=)
c.-98-17448_-98-17443delinsGAAGAG (n.-98-17448_-98-17443delinsGAAGAG)
n.5180_5185delinsGAAGAG
n.5221_5226delinsGAAGAG
17g.43067634T>ACA10591421BRCA1c.5045A>T (p.Glu1682Val)
c.5048A>T (p.Glu1683Val)
c.4922A>T (p.Glu1641Val)
c.5042A>T (p.Glu1681Val)
c.4970A>T (p.Glu1657Val)
c.1736A>T (p.Glu579Val)
c.1598A>T (p.Glu533Val)
c.4160A>T (p.Glu1387Val)
c.4925A>T (p.Glu1642Val)
c.5114A>T (p.Glu1705Val)
c.4907A>T (p.Glu1636Val)
c.1610A>T (p.Glu537Val)
c.5111A>T (p.Glu1704Val)
c.1435A>T
c.1622A>T (p.Glu541Val)
c.*4831A>T (n.*4831A>T)
n.201A>T
c.1361A>T (p.Glu454Val)
c.5-3683A>T (n.5-3683A>T)
c.521A>T (p.Glu174Val)
c.-98-17444A>T (n.-98-17444A>T)
n.5184A>T
n.5225A>T
 ClinVar dbSNP
17g.43067634T>CCA10591422BRCA1c.5045A>G (p.Glu1682Gly)
c.5048A>G (p.Glu1683Gly)
c.4922A>G (p.Glu1641Gly)
c.5042A>G (p.Glu1681Gly)
c.4970A>G (p.Glu1657Gly)
c.1736A>G (p.Glu579Gly)
c.1598A>G (p.Glu533Gly)
c.4160A>G (p.Glu1387Gly)
c.4925A>G (p.Glu1642Gly)
c.5114A>G (p.Glu1705Gly)
c.4907A>G (p.Glu1636Gly)
c.1610A>G (p.Glu537Gly)
c.5111A>G (p.Glu1704Gly)
c.1435A>G
c.1622A>G (p.Glu541Gly)
c.*4831A>G (n.*4831A>G)
n.201A>G
c.1361A>G (p.Glu454Gly)
c.5-3683A>G (n.5-3683A>G)
c.521A>G (p.Glu174Gly)
c.-98-17444A>G (n.-98-17444A>G)
n.5184A>G
n.5225A>G
 ClinVar dbSNP
17g.43067634T>GCA10591423BRCA1c.5045A>C (p.Glu1682Ala)
c.5048A>C (p.Glu1683Ala)
c.4922A>C (p.Glu1641Ala)
c.5042A>C (p.Glu1681Ala)
c.4970A>C (p.Glu1657Ala)
c.1736A>C (p.Glu579Ala)
c.1598A>C (p.Glu533Ala)
c.4160A>C (p.Glu1387Ala)
c.4925A>C (p.Glu1642Ala)
c.5114A>C (p.Glu1705Ala)
c.4907A>C (p.Glu1636Ala)
c.1610A>C (p.Glu537Ala)
c.5111A>C (p.Glu1704Ala)
c.1435A>C
c.1622A>C (p.Glu541Ala)
c.*4831A>C (n.*4831A>C)
n.201A>C
c.1361A>C (p.Glu454Ala)
c.5-3683A>C (n.5-3683A>C)
c.521A>C (p.Glu174Ala)
c.-98-17444A>C (n.-98-17444A>C)
n.5184A>C
n.5225A>C
 ClinVar dbSNP
17g.43067634T=CA2260771340BRCA1c.5045A= (p.Glu1682=)
c.5048A= (p.Glu1683=)
c.4922A= (p.Glu1641=)
c.5042A= (p.Glu1681=)
c.4970A= (p.Glu1657=)
c.1736A= (p.Glu579=)
c.1598A= (p.Glu533=)
c.4160A= (p.Glu1387=)
c.4925A= (p.Glu1642=)
c.5114A= (p.Glu1705=)
c.4907A= (p.Glu1636=)
c.1610A= (p.Glu537=)
c.5111A= (p.Glu1704=)
c.1435A=
c.1622A= (p.Glu541=)
c.*4831A= (n.*4831A=)
n.201A=
c.1361A= (p.Glu454=)
c.5-3683A= (n.5-3683A=)
c.521A= (p.Glu174=)
c.-98-17444A= (n.-98-17444A=)
n.5184A=
n.5225A=
17g.43067634_43067638delinsACA10589624BRCA1c.5041_5045delinsT (p.Glu1681Ter)
c.5044_5048delinsT (p.Glu1682Ter)
c.4918_4922delinsT (p.Glu1640Ter)
c.5038_5042delinsT (p.Glu1680Ter)
c.4966_4970delinsT (p.Glu1656Ter)
c.1732_1736delinsT (p.Glu578Ter)
c.1594_1598delinsT (p.Glu532Ter)
c.4156_4160delinsT (p.Glu1386Ter)
c.4921_4925delinsT (p.Glu1641Ter)
c.5110_5114delinsT (p.Glu1704Ter)
c.4903_4907delinsT (p.Glu1635Ter)
c.1606_1610delinsT (p.Glu536Ter)
c.5107_5111delinsT (p.Glu1703Ter)
c.1431_1435delinsT
c.1618_1622delinsT (p.Glu540Ter)
c.*4827_*4831delinsT (n.*4827_*4831delinsT)
n.197_201delinsT
c.1357_1361delinsT (p.Glu453Ter)
c.5-3687_5-3683delinsT (n.5-3687_5-3683delinsT)
c.517_521delinsT (p.Glu173Ter)
c.-98-17448_-98-17444delinsT (n.-98-17448_-98-17444delinsT)
n.5180_5184delinsT
n.5221_5225delinsT
 ClinVar dbSNP
17g.43067635C>ACA003173BRCA1c.5044G>T (p.Glu1682Ter)
c.5047G>T (p.Glu1683Ter)
c.4921G>T (p.Glu1641Ter)
c.5041G>T (p.Glu1681Ter)
c.4969G>T (p.Glu1657Ter)
c.1735G>T (p.Glu579Ter)
c.1597G>T (p.Glu533Ter)
c.4159G>T (p.Glu1387Ter)
c.4924G>T (p.Glu1642Ter)
c.5113G>T (p.Glu1705Ter)
c.4906G>T (p.Glu1636Ter)
c.1609G>T (p.Glu537Ter)
c.5110G>T (p.Glu1704Ter)
c.1434G>T
c.1621G>T (p.Glu541Ter)
c.*4830G>T (n.*4830G>T)
n.200G>T
c.1360G>T (p.Glu454Ter)
c.5-3684G>T (n.5-3684G>T)
c.520G>T (p.Glu174Ter)
c.-98-17445G>T (n.-98-17445G>T)
n.5183G>T
n.5224G>T
 ClinVar dbSNP
17g.43067635C=CA2260771341BRCA1c.5044G= (p.Glu1682=)
c.5047G= (p.Glu1683=)
c.4921G= (p.Glu1641=)
c.5041G= (p.Glu1681=)
c.4969G= (p.Glu1657=)
c.1735G= (p.Glu579=)
c.1597G= (p.Glu533=)
c.4159G= (p.Glu1387=)
c.4924G= (p.Glu1642=)
c.5113G= (p.Glu1705=)
c.4906G= (p.Glu1636=)
c.1609G= (p.Glu537=)
c.5110G= (p.Glu1704=)
c.1434G=
c.1621G= (p.Glu541=)
c.*4830G= (n.*4830G=)
n.200G=
c.1360G= (p.Glu454=)
c.5-3684G= (n.5-3684G=)
c.520G= (p.Glu174=)
c.-98-17445G= (n.-98-17445G=)
n.5183G=
n.5224G=
17g.43067635C>GCA10591424BRCA1c.5044G>C (p.Glu1682Gln)
c.5047G>C (p.Glu1683Gln)
c.4921G>C (p.Glu1641Gln)
c.5041G>C (p.Glu1681Gln)
c.4969G>C (p.Glu1657Gln)
c.1735G>C (p.Glu579Gln)
c.1597G>C (p.Glu533Gln)
c.4159G>C (p.Glu1387Gln)
c.4924G>C (p.Glu1642Gln)
c.5113G>C (p.Glu1705Gln)
c.4906G>C (p.Glu1636Gln)
c.1609G>C (p.Glu537Gln)
c.5110G>C (p.Glu1704Gln)
c.1434G>C
c.1621G>C (p.Glu541Gln)
c.*4830G>C (n.*4830G>C)
n.200G>C
c.1360G>C (p.Glu454Gln)
c.5-3684G>C (n.5-3684G>C)
c.520G>C (p.Glu174Gln)
c.-98-17445G>C (n.-98-17445G>C)
n.5183G>C
n.5224G>C
 ClinVar dbSNP
17g.43067635C>TCA10591425BRCA1c.5044G>A (p.Glu1682Lys)
c.5047G>A (p.Glu1683Lys)
c.4921G>A (p.Glu1641Lys)
c.5041G>A (p.Glu1681Lys)
c.4969G>A (p.Glu1657Lys)
c.1735G>A (p.Glu579Lys)
c.1597G>A (p.Glu533Lys)
c.4159G>A (p.Glu1387Lys)
c.4924G>A (p.Glu1642Lys)
c.5113G>A (p.Glu1705Lys)
c.4906G>A (p.Glu1636Lys)
c.1609G>A (p.Glu537Lys)
c.5110G>A (p.Glu1704Lys)
c.1434G>A
c.1621G>A (p.Glu541Lys)
c.*4830G>A (n.*4830G>A)
n.200G>A
c.1360G>A (p.Glu454Lys)
c.5-3684G>A (n.5-3684G>A)
c.520G>A (p.Glu174Lys)
c.-98-17445G>A (n.-98-17445G>A)
n.5183G>A
n.5224G>A
 ClinVar dbSNP
17g.43067636T>ACA10591426BRCA1c.5043A>T (p.Glu1681Asp)
c.5046A>T (p.Glu1682Asp)
c.4920A>T (p.Glu1640Asp)
c.5040A>T (p.Glu1680Asp)
c.4968A>T (p.Glu1656Asp)
c.1734A>T (p.Glu578Asp)
c.1596A>T (p.Glu532Asp)
c.4158A>T (p.Glu1386Asp)
c.4923A>T (p.Glu1641Asp)
c.5112A>T (p.Glu1704Asp)
c.4905A>T (p.Glu1635Asp)
c.1608A>T (p.Glu536Asp)
c.5109A>T (p.Glu1703Asp)
c.1433A>T
c.1620A>T (p.Glu540Asp)
c.*4829A>T (n.*4829A>T)
n.199A>T
c.1359A>T (p.Glu453Asp)
c.5-3685A>T (n.5-3685A>T)
c.519A>T (p.Glu173Asp)
c.-98-17446A>T (n.-98-17446A>T)
n.5182A>T
n.5223A>T
 ClinVar dbSNP
17g.43067636T>CCA500146332BRCA1c.5043A>G (p.Glu1681=)
c.5046A>G (p.Glu1682=)
c.4920A>G (p.Glu1640=)
c.5040A>G (p.Glu1680=)
c.4968A>G (p.Glu1656=)
c.1734A>G (p.Glu578=)
c.1596A>G (p.Glu532=)
c.4158A>G (p.Glu1386=)
c.4923A>G (p.Glu1641=)
c.5112A>G (p.Glu1704=)
c.4905A>G (p.Glu1635=)
c.1608A>G (p.Glu536=)
c.5109A>G (p.Glu1703=)
c.1433A>G
c.1620A>G (p.Glu540=)
c.*4829A>G (n.*4829A>G)
n.199A>G
c.1359A>G (p.Glu453=)
c.5-3685A>G (n.5-3685A>G)
c.519A>G (p.Glu173=)
c.-98-17446A>G (n.-98-17446A>G)
n.5182A>G
n.5223A>G
 ClinVar dbSNP
17g.43067636T>GCA10591427BRCA1c.5043A>C (p.Glu1681Asp)
c.5046A>C (p.Glu1682Asp)
c.4920A>C (p.Glu1640Asp)
c.5040A>C (p.Glu1680Asp)
c.4968A>C (p.Glu1656Asp)
c.1734A>C (p.Glu578Asp)
c.1596A>C (p.Glu532Asp)
c.4158A>C (p.Glu1386Asp)
c.4923A>C (p.Glu1641Asp)
c.5112A>C (p.Glu1704Asp)
c.4905A>C (p.Glu1635Asp)
c.1608A>C (p.Glu536Asp)
c.5109A>C (p.Glu1703Asp)
c.1433A>C
c.1620A>C (p.Glu540Asp)
c.*4829A>C (n.*4829A>C)
n.199A>C
c.1359A>C (p.Glu453Asp)
c.5-3685A>C (n.5-3685A>C)
c.519A>C (p.Glu173Asp)
c.-98-17446A>C (n.-98-17446A>C)
n.5182A>C
n.5223A>C
 ClinVar dbSNP
17g.43067636T=CA2260771342BRCA1c.5043A= (p.Glu1681=)
c.5046A= (p.Glu1682=)
c.4920A= (p.Glu1640=)
c.5040A= (p.Glu1680=)
c.4968A= (p.Glu1656=)
c.1734A= (p.Glu578=)
c.1596A= (p.Glu532=)
c.4158A= (p.Glu1386=)
c.4923A= (p.Glu1641=)
c.5112A= (p.Glu1704=)
c.4905A= (p.Glu1635=)
c.1608A= (p.Glu536=)
c.5109A= (p.Glu1703=)
c.1433A=
c.1620A= (p.Glu540=)
c.*4829A= (n.*4829A=)
n.199A=
c.1359A= (p.Glu453=)
c.5-3685A= (n.5-3685A=)
c.519A= (p.Glu173=)
c.-98-17446A= (n.-98-17446A=)
n.5182A=
n.5223A=
17g.43067637T>ACA003172BRCA1c.5042A>T (p.Glu1681Val)
c.5045A>T (p.Glu1682Val)
c.4919A>T (p.Glu1640Val)
c.5039A>T (p.Glu1680Val)
c.4967A>T (p.Glu1656Val)
c.1733A>T (p.Glu578Val)
c.1595A>T (p.Glu532Val)
c.4157A>T (p.Glu1386Val)
c.4922A>T (p.Glu1641Val)
c.5111A>T (p.Glu1704Val)
c.4904A>T (p.Glu1635Val)
c.1607A>T (p.Glu536Val)
c.5108A>T (p.Glu1703Val)
c.1432A>T
c.1619A>T (p.Glu540Val)
c.*4828A>T (n.*4828A>T)
n.198A>T
c.1358A>T (p.Glu453Val)
c.5-3686A>T (n.5-3686A>T)
c.518A>T (p.Glu173Val)
c.-98-17447A>T (n.-98-17447A>T)
n.5181A>T
n.5222A>T
 ClinVar dbSNP
17g.43067637T>CCA10591428BRCA1c.5042A>G (p.Glu1681Gly)
c.5045A>G (p.Glu1682Gly)
c.4919A>G (p.Glu1640Gly)
c.5039A>G (p.Glu1680Gly)
c.4967A>G (p.Glu1656Gly)
c.1733A>G (p.Glu578Gly)
c.1595A>G (p.Glu532Gly)
c.4157A>G (p.Glu1386Gly)
c.4922A>G (p.Glu1641Gly)
c.5111A>G (p.Glu1704Gly)
c.4904A>G (p.Glu1635Gly)
c.1607A>G (p.Glu536Gly)
c.5108A>G (p.Glu1703Gly)
c.1432A>G
c.1619A>G (p.Glu540Gly)
c.*4828A>G (n.*4828A>G)
n.198A>G
c.1358A>G (p.Glu453Gly)
c.5-3686A>G (n.5-3686A>G)
c.518A>G (p.Glu173Gly)
c.-98-17447A>G (n.-98-17447A>G)
n.5181A>G
n.5222A>G
 ClinVar dbSNP
17g.43067637T>GCA10591429BRCA1c.5042A>C (p.Glu1681Ala)
c.5045A>C (p.Glu1682Ala)
c.4919A>C (p.Glu1640Ala)
c.5039A>C (p.Glu1680Ala)
c.4967A>C (p.Glu1656Ala)
c.1733A>C (p.Glu578Ala)
c.1595A>C (p.Glu532Ala)
c.4157A>C (p.Glu1386Ala)
c.4922A>C (p.Glu1641Ala)
c.5111A>C (p.Glu1704Ala)
c.4904A>C (p.Glu1635Ala)
c.1607A>C (p.Glu536Ala)
c.5108A>C (p.Glu1703Ala)
c.1432A>C
c.1619A>C (p.Glu540Ala)
c.*4828A>C (n.*4828A>C)
n.198A>C
c.1358A>C (p.Glu453Ala)
c.5-3686A>C (n.5-3686A>C)
c.518A>C (p.Glu173Ala)
c.-98-17447A>C (n.-98-17447A>C)
n.5181A>C
n.5222A>C
 ClinVar dbSNP
17g.43067637T=CA2260771343BRCA1c.5042A= (p.Glu1681=)
c.5045A= (p.Glu1682=)
c.4919A= (p.Glu1640=)
c.5039A= (p.Glu1680=)
c.4967A= (p.Glu1656=)
c.1733A= (p.Glu578=)
c.1595A= (p.Glu532=)
c.4157A= (p.Glu1386=)
c.4922A= (p.Glu1641=)
c.5111A= (p.Glu1704=)
c.4904A= (p.Glu1635=)
c.1607A= (p.Glu536=)
c.5108A= (p.Glu1703=)
c.1432A=
c.1619A= (p.Glu540=)
c.*4828A= (n.*4828A=)
n.198A=
c.1358A= (p.Glu453=)
c.5-3686A= (n.5-3686A=)
c.518A= (p.Glu173=)
c.-98-17447A= (n.-98-17447A=)
n.5181A=
n.5222A=
17g.43067638C>ACA10591430BRCA1c.5041G>T (p.Glu1681Ter)
c.5044G>T (p.Glu1682Ter)
c.4918G>T (p.Glu1640Ter)
c.5038G>T (p.Glu1680Ter)
c.4966G>T (p.Glu1656Ter)
c.1732G>T (p.Glu578Ter)
c.1594G>T (p.Glu532Ter)
c.4156G>T (p.Glu1386Ter)
c.4921G>T (p.Glu1641Ter)
c.5110G>T (p.Glu1704Ter)
c.4903G>T (p.Glu1635Ter)
c.1606G>T (p.Glu536Ter)
c.5107G>T (p.Glu1703Ter)
c.1431G>T
c.1618G>T (p.Glu540Ter)
c.*4827G>T (n.*4827G>T)
n.197G>T
c.1357G>T (p.Glu453Ter)
c.5-3687G>T (n.5-3687G>T)
c.517G>T (p.Glu173Ter)
c.-98-17448G>T (n.-98-17448G>T)
n.5180G>T
n.5221G>T
 ClinVar dbSNP
17g.43067638C=CA2260771344BRCA1c.5041G= (p.Glu1681=)
c.5044G= (p.Glu1682=)
c.4918G= (p.Glu1640=)
c.5038G= (p.Glu1680=)
c.4966G= (p.Glu1656=)
c.1732G= (p.Glu578=)
c.1594G= (p.Glu532=)
c.4156G= (p.Glu1386=)
c.4921G= (p.Glu1641=)
c.5110G= (p.Glu1704=)
c.4903G= (p.Glu1635=)
c.1606G= (p.Glu536=)
c.5107G= (p.Glu1703=)
c.1431G=
c.1618G= (p.Glu540=)
c.*4827G= (n.*4827G=)
n.197G=
c.1357G= (p.Glu453=)
c.5-3687G= (n.5-3687G=)
c.517G= (p.Glu173=)
c.-98-17448G= (n.-98-17448G=)
n.5180G=
n.5221G=
17g.43067638C>GCA10591431BRCA1c.5041G>C (p.Glu1681Gln)
c.5044G>C (p.Glu1682Gln)
c.4918G>C (p.Glu1640Gln)
c.5038G>C (p.Glu1680Gln)
c.4966G>C (p.Glu1656Gln)
c.1732G>C (p.Glu578Gln)
c.1594G>C (p.Glu532Gln)
c.4156G>C (p.Glu1386Gln)
c.4921G>C (p.Glu1641Gln)
c.5110G>C (p.Glu1704Gln)
c.4903G>C (p.Glu1635Gln)
c.1606G>C (p.Glu536Gln)
c.5107G>C (p.Glu1703Gln)
c.1431G>C
c.1618G>C (p.Glu540Gln)
c.*4827G>C (n.*4827G>C)
n.197G>C
c.1357G>C (p.Glu453Gln)
c.5-3687G>C (n.5-3687G>C)
c.517G>C (p.Glu173Gln)
c.-98-17448G>C (n.-98-17448G>C)
n.5180G>C
n.5221G>C
 ClinVar dbSNP
17g.43067638C>TCA003171BRCA1c.5041G>A (p.Glu1681Lys)
c.5044G>A (p.Glu1682Lys)
c.4918G>A (p.Glu1640Lys)
c.5038G>A (p.Glu1680Lys)
c.4966G>A (p.Glu1656Lys)
c.1732G>A (p.Glu578Lys)
c.1594G>A (p.Glu532Lys)
c.4156G>A (p.Glu1386Lys)
c.4921G>A (p.Glu1641Lys)
c.5110G>A (p.Glu1704Lys)
c.4903G>A (p.Glu1635Lys)
c.1606G>A (p.Glu536Lys)
c.5107G>A (p.Glu1703Lys)
c.1431G>A
c.1618G>A (p.Glu540Lys)
c.*4827G>A (n.*4827G>A)
n.197G>A
c.1357G>A (p.Glu453Lys)
c.5-3687G>A (n.5-3687G>A)
c.517G>A (p.Glu173Lys)
c.-98-17448G>A (n.-98-17448G>A)
n.5180G>A
n.5221G>A
 ClinVar dbSNP COSMIC COSMIC
17g.43067639A=CA2260771346BRCA1c.5040T= (p.Thr1680=)
c.5043T= (p.Thr1681=)
c.4917T= (p.Thr1639=)
c.5037T= (p.Thr1679=)
c.4965T= (p.Thr1655=)
c.1731T= (p.Thr577=)
c.1593T= (p.Thr531=)
c.4155T= (p.Thr1385=)
c.4920T= (p.Thr1640=)
c.5109T= (p.Thr1703=)
c.4902T= (p.Thr1634=)
c.1605T= (p.Thr535=)
c.5106T= (p.Thr1702=)
c.1430T=
c.1617T= (p.Thr539=)
c.*4826T= (n.*4826T=)
n.196T=
c.1356T= (p.Thr452=)
c.5-3688T= (n.5-3688T=)
c.516T= (p.Thr172=)
c.-98-17449T= (n.-98-17449T=)
n.5179T=
n.5220T=
17g.43067639A>CCA500146336BRCA1c.5040T>G (p.Thr1680=)
c.5043T>G (p.Thr1681=)
c.4917T>G (p.Thr1639=)
c.5037T>G (p.Thr1679=)
c.4965T>G (p.Thr1655=)
c.1731T>G (p.Thr577=)
c.1593T>G (p.Thr531=)
c.4155T>G (p.Thr1385=)
c.4920T>G (p.Thr1640=)
c.5109T>G (p.Thr1703=)
c.4902T>G (p.Thr1634=)
c.1605T>G (p.Thr535=)
c.5106T>G (p.Thr1702=)
c.1430T>G
c.1617T>G (p.Thr539=)
c.*4826T>G (n.*4826T>G)
n.196T>G
c.1356T>G (p.Thr452=)
c.5-3688T>G (n.5-3688T>G)
c.516T>G (p.Thr172=)
c.-98-17449T>G (n.-98-17449T>G)
n.5179T>G
n.5220T>G
 ClinVar dbSNP
17g.43067639A>GCA500146334BRCA1c.5040T>C (p.Thr1680=)
c.5043T>C (p.Thr1681=)
c.4917T>C (p.Thr1639=)
c.5037T>C (p.Thr1679=)
c.4965T>C (p.Thr1655=)
c.1731T>C (p.Thr577=)
c.1593T>C (p.Thr531=)
c.4155T>C (p.Thr1385=)
c.4920T>C (p.Thr1640=)
c.5109T>C (p.Thr1703=)
c.4902T>C (p.Thr1634=)
c.1605T>C (p.Thr535=)
c.5106T>C (p.Thr1702=)
c.1430T>C
c.1617T>C (p.Thr539=)
c.*4826T>C (n.*4826T>C)
n.196T>C
c.1356T>C (p.Thr452=)
c.5-3688T>C (n.5-3688T>C)
c.516T>C (p.Thr172=)
c.-98-17449T>C (n.-98-17449T>C)
n.5179T>C
n.5220T>C
 ClinVar dbSNP
17g.43067639A>TCA500146335BRCA1c.5040T>A (p.Thr1680=)
c.5043T>A (p.Thr1681=)
c.4917T>A (p.Thr1639=)
c.5037T>A (p.Thr1679=)
c.4965T>A (p.Thr1655=)
c.1731T>A (p.Thr577=)
c.1593T>A (p.Thr531=)
c.4155T>A (p.Thr1385=)
c.4920T>A (p.Thr1640=)
c.5109T>A (p.Thr1703=)
c.4902T>A (p.Thr1634=)
c.1605T>A (p.Thr535=)
c.5106T>A (p.Thr1702=)
c.1430T>A
c.1617T>A (p.Thr539=)
c.*4826T>A (n.*4826T>A)
n.196T>A
c.1356T>A (p.Thr452=)
c.5-3688T>A (n.5-3688T>A)
c.516T>A (p.Thr172=)
c.-98-17449T>A (n.-98-17449T>A)
n.5179T>A
n.5220T>A
 ClinVar dbSNP
17g.43067639_43067640insTTAACA658824725BRCA1c.5040_5041insTAAT (p.Glu1681Ter)
c.5043_5044insTAAT (p.Glu1682Ter)
c.4917_4918insTAAT (p.Glu1640Ter)
c.5037_5038insTAAT (p.Glu1680Ter)
c.4965_4966insTAAT (p.Glu1656Ter)
c.1731_1732insTAAT (p.Glu578Ter)
c.1593_1594insTAAT (p.Glu532Ter)
c.4155_4156insTAAT (p.Glu1386Ter)
c.4920_4921insTAAT (p.Glu1641Ter)
c.5109_5110insTAAT (p.Glu1704Ter)
c.4902_4903insTAAT (p.Glu1635Ter)
c.1605_1606insTAAT (p.Glu536Ter)
c.5106_5107insTAAT (p.Glu1703Ter)
c.1430_1431insTAAT
c.1617_1618insTAAT (p.Glu540Ter)
c.*4826_*4827insTAAT (n.*4826_*4827insTAAT)
n.196_197insTAAT
c.1356_1357insTAAT (p.Glu453Ter)
c.5-3688_5-3687insTAAT (n.5-3688_5-3687insTAAT)
c.516_517insTAAT (p.Glu173Ter)
c.-98-17449_-98-17448insTAAT (n.-98-17449_-98-17448insTAAT)
n.5179_5180insTAAT
n.5220_5221insTAAT
 ClinVar dbSNP
17g.43067639_43067640delinsAGCA2260771345BRCA1c.5039_5040delinsCT (p.Thr1680=)
c.5042_5043delinsCT (p.Thr1681=)
c.4916_4917delinsCT (p.Thr1639=)
c.5036_5037delinsCT (p.Thr1679=)
c.4964_4965delinsCT (p.Thr1655=)
c.1730_1731delinsCT (p.Thr577=)
c.1592_1593delinsCT (p.Thr531=)
c.4154_4155delinsCT (p.Thr1385=)
c.4919_4920delinsCT (p.Thr1640=)
c.5108_5109delinsCT (p.Thr1703=)
c.4901_4902delinsCT (p.Thr1634=)
c.1604_1605delinsCT (p.Thr535=)
c.5105_5106delinsCT (p.Thr1702=)
c.1429_1430delinsCT
c.1616_1617delinsCT (p.Thr539=)
c.*4825_*4826delinsCT (n.*4825_*4826delinsCT)
n.195_196delinsCT
c.1355_1356delinsCT (p.Thr452=)
c.5-3689_5-3688delinsCT (n.5-3689_5-3688delinsCT)
c.515_516delinsCT (p.Thr172=)
c.-98-17450_-98-17449delinsCT (n.-98-17450_-98-17449delinsCT)
n.5178_5179delinsCT
n.5219_5220delinsCT
17g.43067640delCA10589626BRCA1c.5039del (p.Thr1680MetfsTer9)
c.5042del (p.Thr1681MetfsTer9)
c.4916del (p.Thr1639MetfsTer9)
c.5036del (p.Thr1679MetfsTer9)
c.4964del (p.Thr1655MetfsTer9)
c.1730del (p.Thr577MetfsTer9)
c.1592del (p.Thr531MetfsTer9)
c.4154del (p.Thr1385MetfsTer9)
c.4919del (p.Thr1640MetfsTer9)
c.5108del (p.Thr1703MetfsTer9)
c.4901del (p.Thr1634MetfsTer9)
c.1604del (p.Thr535MetfsTer9)
c.5105del (p.Thr1702MetfsTer9)
c.1429del
c.1616del (p.Thr539MetfsTer9)
c.*4825del (n.*4825del)
n.195del
c.1355del (p.Thr452MetfsTer9)
c.5-3689del (n.5-3689del)
c.515del (p.Thr172MetfsTer9)
c.-98-17450del (n.-98-17450del)
n.5178del
n.5219del
 ClinVar dbSNP
17g.43067640G>ACA003169BRCA1c.5039C>T (p.Thr1680Ile)
c.5042C>T (p.Thr1681Ile)
c.4916C>T (p.Thr1639Ile)
c.5036C>T (p.Thr1679Ile)
c.4964C>T (p.Thr1655Ile)
c.1730C>T (p.Thr577Ile)
c.1592C>T (p.Thr531Ile)
c.4154C>T (p.Thr1385Ile)
c.4919C>T (p.Thr1640Ile)
c.5108C>T (p.Thr1703Ile)
c.4901C>T (p.Thr1634Ile)
c.1604C>T (p.Thr535Ile)
c.5105C>T (p.Thr1702Ile)
c.1429C>T
c.1616C>T (p.Thr539Ile)
c.*4825C>T (n.*4825C>T)
n.195C>T
c.1355C>T (p.Thr452Ile)
c.5-3689C>T (n.5-3689C>T)
c.515C>T (p.Thr172Ile)
c.-98-17450C>T (n.-98-17450C>T)
n.5178C>T
n.5219C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43067640G>CCA10591432BRCA1c.5039C>G (p.Thr1680Ser)
c.5042C>G (p.Thr1681Ser)
c.4916C>G (p.Thr1639Ser)
c.5036C>G (p.Thr1679Ser)
c.4964C>G (p.Thr1655Ser)
c.1730C>G (p.Thr577Ser)
c.1592C>G (p.Thr531Ser)
c.4154C>G (p.Thr1385Ser)
c.4919C>G (p.Thr1640Ser)
c.5108C>G (p.Thr1703Ser)
c.4901C>G (p.Thr1634Ser)
c.1604C>G (p.Thr535Ser)
c.5105C>G (p.Thr1702Ser)
c.1429C>G
c.1616C>G (p.Thr539Ser)
c.*4825C>G (n.*4825C>G)
n.195C>G
c.1355C>G (p.Thr452Ser)
c.5-3689C>G (n.5-3689C>G)
c.515C>G (p.Thr172Ser)
c.-98-17450C>G (n.-98-17450C>G)
n.5178C>G
n.5219C>G
 ClinVar dbSNP
17g.43067640G=CA2260771347BRCA1c.5039C= (p.Thr1680=)
c.5042C= (p.Thr1681=)
c.4916C= (p.Thr1639=)
c.5036C= (p.Thr1679=)
c.4964C= (p.Thr1655=)
c.1730C= (p.Thr577=)
c.1592C= (p.Thr531=)
c.4154C= (p.Thr1385=)
c.4919C= (p.Thr1640=)
c.5108C= (p.Thr1703=)
c.4901C= (p.Thr1634=)
c.1604C= (p.Thr535=)
c.5105C= (p.Thr1702=)
c.1429C=
c.1616C= (p.Thr539=)
c.*4825C= (n.*4825C=)
n.195C=
c.1355C= (p.Thr452=)
c.5-3689C= (n.5-3689C=)
c.515C= (p.Thr172=)
c.-98-17450C= (n.-98-17450C=)
n.5178C=
n.5219C=
17g.43067640G>TCA10591433BRCA1c.5039C>A (p.Thr1680Asn)
c.5042C>A (p.Thr1681Asn)
c.4916C>A (p.Thr1639Asn)
c.5036C>A (p.Thr1679Asn)
c.4964C>A (p.Thr1655Asn)
c.1730C>A (p.Thr577Asn)
c.1592C>A (p.Thr531Asn)
c.4154C>A (p.Thr1385Asn)
c.4919C>A (p.Thr1640Asn)
c.5108C>A (p.Thr1703Asn)
c.4901C>A (p.Thr1634Asn)
c.1604C>A (p.Thr535Asn)
c.5105C>A (p.Thr1702Asn)
c.1429C>A
c.1616C>A (p.Thr539Asn)
c.*4825C>A (n.*4825C>A)
n.195C>A
c.1355C>A (p.Thr452Asn)
c.5-3689C>A (n.5-3689C>A)
c.515C>A (p.Thr172Asn)
c.-98-17450C>A (n.-98-17450C>A)
n.5178C>A
n.5219C>A
 ClinVar dbSNP
17g.43067640_43067644dupCA658761225BRCA1c.5035_5039dup (p.Glu1681LeufsTer10)
c.5038_5042dup (p.Glu1682LeufsTer10)
c.4912_4916dup (p.Glu1640LeufsTer10)
c.5032_5036dup (p.Glu1680LeufsTer10)
c.4960_4964dup (p.Glu1656LeufsTer10)
c.1726_1730dup (p.Glu578LeufsTer10)
c.1588_1592dup (p.Glu532LeufsTer10)
c.4150_4154dup (p.Glu1386LeufsTer10)
c.4915_4919dup (p.Glu1641LeufsTer10)
c.5104_5108dup (p.Glu1704LeufsTer10)
c.4897_4901dup (p.Glu1635LeufsTer10)
c.1600_1604dup (p.Glu536LeufsTer10)
c.5101_5105dup (p.Glu1703LeufsTer10)
c.1425_1429dup
c.1612_1616dup (p.Glu540LeufsTer10)
c.*4821_*4825dup (n.*4821_*4825dup)
n.191_195dup
c.1351_1355dup (p.Glu453LeufsTer10)
c.5-3693_5-3689dup (n.5-3693_5-3689dup)
c.511_515dup (p.Glu173LeufsTer10)
c.-98-17454_-98-17450dup (n.-98-17454_-98-17450dup)
n.5174_5178dup
n.5215_5219dup
17g.43067641T>ACA10591434BRCA1c.5038A>T (p.Thr1680Ser)
c.5041A>T (p.Thr1681Ser)
c.4915A>T (p.Thr1639Ser)
c.5035A>T (p.Thr1679Ser)
c.4963A>T (p.Thr1655Ser)
c.1729A>T (p.Thr577Ser)
c.1591A>T (p.Thr531Ser)
c.4153A>T (p.Thr1385Ser)
c.4918A>T (p.Thr1640Ser)
c.5107A>T (p.Thr1703Ser)
c.4900A>T (p.Thr1634Ser)
c.1603A>T (p.Thr535Ser)
c.5104A>T (p.Thr1702Ser)
c.1428A>T
c.1615A>T (p.Thr539Ser)
c.*4824A>T (n.*4824A>T)
n.194A>T
c.1354A>T (p.Thr452Ser)
c.5-3690A>T (n.5-3690A>T)
c.514A>T (p.Thr172Ser)
c.-98-17451A>T (n.-98-17451A>T)
n.5177A>T
n.5218A>T
 ClinVar dbSNP
17g.43067641T>CCA10591435BRCA1c.5038A>G (p.Thr1680Ala)
c.5041A>G (p.Thr1681Ala)
c.4915A>G (p.Thr1639Ala)
c.5035A>G (p.Thr1679Ala)
c.4963A>G (p.Thr1655Ala)
c.1729A>G (p.Thr577Ala)
c.1591A>G (p.Thr531Ala)
c.4153A>G (p.Thr1385Ala)
c.4918A>G (p.Thr1640Ala)
c.5107A>G (p.Thr1703Ala)
c.4900A>G (p.Thr1634Ala)
c.1603A>G (p.Thr535Ala)
c.5104A>G (p.Thr1702Ala)
c.1428A>G
c.1615A>G (p.Thr539Ala)
c.*4824A>G (n.*4824A>G)
n.194A>G
c.1354A>G (p.Thr452Ala)
c.5-3690A>G (n.5-3690A>G)
c.514A>G (p.Thr172Ala)
c.-98-17451A>G (n.-98-17451A>G)
n.5177A>G
n.5218A>G
 ClinVar dbSNP
17g.43067641T>GCA10580500BRCA1c.5038A>C (p.Thr1680Pro)
c.5041A>C (p.Thr1681Pro)
c.4915A>C (p.Thr1639Pro)
c.5035A>C (p.Thr1679Pro)
c.4963A>C (p.Thr1655Pro)
c.1729A>C (p.Thr577Pro)
c.1591A>C (p.Thr531Pro)
c.4153A>C (p.Thr1385Pro)
c.4918A>C (p.Thr1640Pro)
c.5107A>C (p.Thr1703Pro)
c.4900A>C (p.Thr1634Pro)
c.1603A>C (p.Thr535Pro)
c.5104A>C (p.Thr1702Pro)
c.1428A>C
c.1615A>C (p.Thr539Pro)
c.*4824A>C (n.*4824A>C)
n.194A>C
c.1354A>C (p.Thr452Pro)
c.5-3690A>C (n.5-3690A>C)
c.514A>C (p.Thr172Pro)
c.-98-17451A>C (n.-98-17451A>C)
n.5177A>C
n.5218A>C
 ClinVar dbSNP
17g.43067641T=CA2260771349BRCA1c.5038A= (p.Thr1680=)
c.5041A= (p.Thr1681=)
c.4915A= (p.Thr1639=)
c.5035A= (p.Thr1679=)
c.4963A= (p.Thr1655=)
c.1729A= (p.Thr577=)
c.1591A= (p.Thr531=)
c.4153A= (p.Thr1385=)
c.4918A= (p.Thr1640=)
c.5107A= (p.Thr1703=)
c.4900A= (p.Thr1634=)
c.1603A= (p.Thr535=)
c.5104A= (p.Thr1702=)
c.1428A=
c.1615A= (p.Thr539=)
c.*4824A= (n.*4824A=)
n.194A=
c.1354A= (p.Thr452=)
c.5-3690A= (n.5-3690A=)
c.514A= (p.Thr172=)
c.-98-17451A= (n.-98-17451A=)
n.5177A=
n.5218A=
17g.43067641_43067642insTAATCA10589625BRCA1c.5038_5039insTTAA (p.Thr1680IlefsTer3)
c.5041_5042insTTAA (p.Thr1681IlefsTer3)
c.4915_4916insTTAA (p.Thr1639IlefsTer3)
c.5035_5036insTTAA (p.Thr1679IlefsTer3)
c.4963_4964insTTAA (p.Thr1655IlefsTer3)
c.1729_1730insTTAA (p.Thr577IlefsTer3)
c.1591_1592insTTAA (p.Thr531IlefsTer3)
c.4153_4154insTTAA (p.Thr1385IlefsTer3)
c.4918_4919insTTAA (p.Thr1640IlefsTer3)
c.5107_5108insTTAA (p.Thr1703IlefsTer3)
c.4900_4901insTTAA (p.Thr1634IlefsTer3)
c.1603_1604insTTAA (p.Thr535IlefsTer3)
c.5104_5105insTTAA (p.Thr1702IlefsTer3)
c.1428_1429insTTAA
c.1615_1616insTTAA (p.Thr539IlefsTer3)
c.*4824_*4825insTTAA (n.*4824_*4825insTTAA)
n.194_195insTTAA
c.1354_1355insTTAA (p.Thr452IlefsTer3)
c.5-3690_5-3689insTTAA (n.5-3690_5-3689insTTAA)
c.514_515insTTAA (p.Thr172IlefsTer3)
c.-98-17451_-98-17450insTTAA (n.-98-17451_-98-17450insTTAA)
n.5177_5178insTTAA
n.5218_5219insTTAA
 ClinVar dbSNP
17g.43067641_43067642delinsTACA2260771348BRCA1c.5037_5038delinsTA (p.Ile1679=)
c.5040_5041delinsTA (p.Ile1680=)
c.4914_4915delinsTA (p.Ile1638=)
c.5034_5035delinsTA (p.Ile1678=)
c.4962_4963delinsTA (p.Ile1654=)
c.1728_1729delinsTA (p.Ile576=)
c.1590_1591delinsTA (p.Ile530=)
c.4152_4153delinsTA (p.Ile1384=)
c.4917_4918delinsTA (p.Ile1639=)
c.5106_5107delinsTA (p.Ile1702=)
c.4899_4900delinsTA (p.Ile1633=)
c.1602_1603delinsTA (p.Ile534=)
c.5103_5104delinsTA (p.Ile1701=)
c.1427_1428delinsTA
c.1614_1615delinsTA (p.Ile538=)
c.*4823_*4824delinsTA (n.*4823_*4824delinsTA)
n.193_194delinsTA
c.1353_1354delinsTA (p.Ile451=)
c.5-3691_5-3690delinsTA (n.5-3691_5-3690delinsTA)
c.513_514delinsTA (p.Ile171=)
c.-98-17452_-98-17451delinsTA (n.-98-17452_-98-17451delinsTA)
n.5176_5177delinsTA
n.5217_5218delinsTA
17g.43067641_43067643delinsTAACA2260771350BRCA1c.5036_5038delinsTTA (p.Ile1679=)
c.5039_5041delinsTTA (p.Ile1680=)
c.4913_4915delinsTTA (p.Ile1638=)
c.5033_5035delinsTTA (p.Ile1678=)
c.4961_4963delinsTTA (p.Ile1654=)
c.1727_1729delinsTTA (p.Ile576=)
c.1589_1591delinsTTA (p.Ile530=)
c.4151_4153delinsTTA (p.Ile1384=)
c.4916_4918delinsTTA (p.Ile1639=)
c.5105_5107delinsTTA (p.Ile1702=)
c.4898_4900delinsTTA (p.Ile1633=)
c.1601_1603delinsTTA (p.Ile534=)
c.5102_5104delinsTTA (p.Ile1701=)
c.1426_1428delinsTTA
c.1613_1615delinsTTA (p.Ile538=)
c.*4822_*4824delinsTTA (n.*4822_*4824delinsTTA)
n.192_194delinsTTA
c.1352_1354delinsTTA (p.Ile451=)
c.5-3692_5-3690delinsTTA (n.5-3692_5-3690delinsTTA)
c.512_514delinsTTA (p.Ile171=)
c.-98-17453_-98-17451delinsTTA (n.-98-17453_-98-17451delinsTTA)
n.5175_5177delinsTTA
n.5216_5218delinsTTA
17g.43067643_43067646dupCA10589627BRCA1c.5035_5038dup (p.Thr1680AsnfsTer3)
c.5038_5041dup (p.Thr1681AsnfsTer3)
c.4912_4915dup (p.Thr1639AsnfsTer3)
c.5032_5035dup (p.Thr1679AsnfsTer3)
c.4960_4963dup (p.Thr1655AsnfsTer3)
c.1726_1729dup (p.Thr577AsnfsTer3)
c.1588_1591dup (p.Thr531AsnfsTer3)
c.4150_4153dup (p.Thr1385AsnfsTer3)
c.4915_4918dup (p.Thr1640AsnfsTer3)
c.5104_5107dup (p.Thr1703AsnfsTer3)
c.4897_4900dup (p.Thr1634AsnfsTer3)
c.1600_1603dup (p.Thr535AsnfsTer3)
c.5101_5104dup (p.Thr1702AsnfsTer3)
c.1425_1428dup
c.1612_1615dup (p.Thr539AsnfsTer3)
c.*4821_*4824dup (n.*4821_*4824dup)
n.191_194dup
c.1351_1354dup (p.Thr452AsnfsTer3)
c.5-3693_5-3690dup (n.5-3693_5-3690dup)
c.511_514dup (p.Thr172AsnfsTer3)
c.-98-17454_-98-17451dup (n.-98-17454_-98-17451dup)
n.5174_5177dup
n.5215_5218dup
 ClinVar dbSNP
17g.43067642A=CA2260771351BRCA1c.5037T= (p.Ile1679=)
c.5040T= (p.Ile1680=)
c.4914T= (p.Ile1638=)
c.5034T= (p.Ile1678=)
c.4962T= (p.Ile1654=)
c.1728T= (p.Ile576=)
c.1590T= (p.Ile530=)
c.4152T= (p.Ile1384=)
c.4917T= (p.Ile1639=)
c.5106T= (p.Ile1702=)
c.4899T= (p.Ile1633=)
c.1602T= (p.Ile534=)
c.5103T= (p.Ile1701=)
c.1427T=
c.1614T= (p.Ile538=)
c.*4823T= (n.*4823T=)
n.193T=
c.1353T= (p.Ile451=)
c.5-3691T= (n.5-3691T=)
c.513T= (p.Ile171=)
c.-98-17452T= (n.-98-17452T=)
n.5176T=
n.5217T=
17g.43067642A>CCA10591436BRCA1c.5037T>G (p.Ile1679Met)
c.5040T>G (p.Ile1680Met)
c.4914T>G (p.Ile1638Met)
c.5034T>G (p.Ile1678Met)
c.4962T>G (p.Ile1654Met)
c.1728T>G (p.Ile576Met)
c.1590T>G (p.Ile530Met)
c.4152T>G (p.Ile1384Met)
c.4917T>G (p.Ile1639Met)
c.5106T>G (p.Ile1702Met)
c.4899T>G (p.Ile1633Met)
c.1602T>G (p.Ile534Met)
c.5103T>G (p.Ile1701Met)
c.1427T>G
c.1614T>G (p.Ile538Met)
c.*4823T>G (n.*4823T>G)
n.193T>G
c.1353T>G (p.Ile451Met)
c.5-3691T>G (n.5-3691T>G)
c.513T>G (p.Ile171Met)
c.-98-17452T>G (n.-98-17452T>G)
n.5176T>G
n.5217T>G
 ClinVar dbSNP
17g.43067642A>GCA500146341BRCA1c.5037T>C (p.Ile1679=)
c.5040T>C (p.Ile1680=)
c.4914T>C (p.Ile1638=)
c.5034T>C (p.Ile1678=)
c.4962T>C (p.Ile1654=)
c.1728T>C (p.Ile576=)
c.1590T>C (p.Ile530=)
c.4152T>C (p.Ile1384=)
c.4917T>C (p.Ile1639=)
c.5106T>C (p.Ile1702=)
c.4899T>C (p.Ile1633=)
c.1602T>C (p.Ile534=)
c.5103T>C (p.Ile1701=)
c.1427T>C
c.1614T>C (p.Ile538=)
c.*4823T>C (n.*4823T>C)
n.193T>C
c.1353T>C (p.Ile451=)
c.5-3691T>C (n.5-3691T>C)
c.513T>C (p.Ile171=)
c.-98-17452T>C (n.-98-17452T>C)
n.5176T>C
n.5217T>C
 ClinVar dbSNP
17g.43067642A>TCA500146342BRCA1c.5037T>A (p.Ile1679=)
c.5040T>A (p.Ile1680=)
c.4914T>A (p.Ile1638=)
c.5034T>A (p.Ile1678=)
c.4962T>A (p.Ile1654=)
c.1728T>A (p.Ile576=)
c.1590T>A (p.Ile530=)
c.4152T>A (p.Ile1384=)
c.4917T>A (p.Ile1639=)
c.5106T>A (p.Ile1702=)
c.4899T>A (p.Ile1633=)
c.1602T>A (p.Ile534=)
c.5103T>A (p.Ile1701=)
c.1427T>A
c.1614T>A (p.Ile538=)
c.*4823T>A (n.*4823T>A)
n.193T>A
c.1353T>A (p.Ile451=)
c.5-3691T>A (n.5-3691T>A)
c.513T>A (p.Ile171=)
c.-98-17452T>A (n.-98-17452T>A)
n.5176T>A
n.5217T>A
 ClinVar dbSNP
17g.43067642_43067643delCA645373161BRCA1c.5036_5037del (p.Ile1679AsnfsTer2)
c.5039_5040del (p.Ile1680AsnfsTer2)
c.4913_4914del (p.Ile1638AsnfsTer2)
c.5033_5034del (p.Ile1678AsnfsTer2)
c.4961_4962del (p.Ile1654AsnfsTer2)
c.1727_1728del (p.Ile576AsnfsTer2)
c.1589_1590del (p.Ile530AsnfsTer2)
c.4151_4152del (p.Ile1384AsnfsTer2)
c.4916_4917del (p.Ile1639AsnfsTer2)
c.5105_5106del (p.Ile1702AsnfsTer2)
c.4898_4899del (p.Ile1633AsnfsTer2)
c.1601_1602del (p.Ile534AsnfsTer2)
c.5102_5103del (p.Ile1701AsnfsTer2)
c.1426_1427del
c.1613_1614del (p.Ile538AsnfsTer2)
c.*4822_*4823del (n.*4822_*4823del)
n.192_193del
c.1352_1353del (p.Ile451AsnfsTer2)
c.5-3692_5-3691del (n.5-3692_5-3691del)
c.512_513del (p.Ile171AsnfsTer2)
c.-98-17453_-98-17452del (n.-98-17453_-98-17452del)
n.5175_5176del
n.5216_5217del
 ClinVar dbSNP
17g.43067643delCA003168BRCA1c.5037del (p.Thr1680LeufsTer9)
c.5040del (p.Thr1681LeufsTer9)
c.4914del (p.Thr1639LeufsTer9)
c.5034del (p.Thr1679LeufsTer9)
c.4962del (p.Thr1655LeufsTer9)
c.1728del (p.Thr577LeufsTer9)
c.1590del (p.Thr531LeufsTer9)
c.4152del (p.Thr1385LeufsTer9)
c.4917del (p.Thr1640LeufsTer9)
c.5106del (p.Thr1703LeufsTer9)
c.4899del (p.Thr1634LeufsTer9)
c.1602del (p.Thr535LeufsTer9)
c.5103del (p.Thr1702LeufsTer9)
c.1427del
c.1614del (p.Thr539LeufsTer9)
c.*4823del (n.*4823del)
n.193del
c.1353del (p.Thr452LeufsTer9)
c.5-3691del (n.5-3691del)
c.513del (p.Thr172LeufsTer9)
c.-98-17452del (n.-98-17452del)
n.5176del
n.5217del
 ClinVar dbSNP
17g.43067642_43067647delinsAATTAGCA2260771352BRCA1c.5032_5037delinsCTAATT (p.Leu1678=)
c.5035_5040delinsCTAATT (p.Leu1679=)
c.4909_4914delinsCTAATT (p.Leu1637=)
c.5029_5034delinsCTAATT (p.Leu1677=)
c.4957_4962delinsCTAATT (p.Leu1653=)
c.1723_1728delinsCTAATT (p.Leu575=)
c.1585_1590delinsCTAATT (p.Leu529=)
c.4147_4152delinsCTAATT (p.Leu1383=)
c.4912_4917delinsCTAATT (p.Leu1638=)
c.5101_5106delinsCTAATT (p.Leu1701=)
c.4894_4899delinsCTAATT (p.Leu1632=)
c.1597_1602delinsCTAATT (p.Leu533=)
c.5098_5103delinsCTAATT (p.Leu1700=)
c.1422_1427delinsCTAATT
c.1609_1614delinsCTAATT (p.Leu537=)
c.*4818_*4823delinsCTAATT (n.*4818_*4823delinsCTAATT)
n.188_193delinsCTAATT
c.1348_1353delinsCTAATT (p.Leu450=)
c.5-3696_5-3691delinsCTAATT (n.5-3696_5-3691delinsCTAATT)
c.508_513delinsCTAATT (p.Leu170=)
c.-98-17457_-98-17452delinsCTAATT (n.-98-17457_-98-17452delinsCTAATT)
n.5171_5176delinsCTAATT
n.5212_5217delinsCTAATT
17g.43067643A=CA2260771353BRCA1c.5036T= (p.Ile1679=)
c.5039T= (p.Ile1680=)
c.4913T= (p.Ile1638=)
c.5033T= (p.Ile1678=)
c.4961T= (p.Ile1654=)
c.1727T= (p.Ile576=)
c.1589T= (p.Ile530=)
c.4151T= (p.Ile1384=)
c.4916T= (p.Ile1639=)
c.5105T= (p.Ile1702=)
c.4898T= (p.Ile1633=)
c.1601T= (p.Ile534=)
c.5102T= (p.Ile1701=)
c.1426T=
c.1613T= (p.Ile538=)
c.*4822T= (n.*4822T=)
n.192T=
c.1352T= (p.Ile451=)
c.5-3692T= (n.5-3692T=)
c.512T= (p.Ile171=)
c.-98-17453T= (n.-98-17453T=)
n.5175T=
n.5216T=
17g.43067643A>CCA10591437BRCA1c.5036T>G (p.Ile1679Ser)
c.5039T>G (p.Ile1680Ser)
c.4913T>G (p.Ile1638Ser)
c.5033T>G (p.Ile1678Ser)
c.4961T>G (p.Ile1654Ser)
c.1727T>G (p.Ile576Ser)
c.1589T>G (p.Ile530Ser)
c.4151T>G (p.Ile1384Ser)
c.4916T>G (p.Ile1639Ser)
c.5105T>G (p.Ile1702Ser)
c.4898T>G (p.Ile1633Ser)
c.1601T>G (p.Ile534Ser)
c.5102T>G (p.Ile1701Ser)
c.1426T>G
c.1613T>G (p.Ile538Ser)
c.*4822T>G (n.*4822T>G)
n.192T>G
c.1352T>G (p.Ile451Ser)
c.5-3692T>G (n.5-3692T>G)
c.512T>G (p.Ile171Ser)
c.-98-17453T>G (n.-98-17453T>G)
n.5175T>G
n.5216T>G
 ClinVar dbSNP
17g.43067643A>GCA10591438BRCA1c.5036T>C (p.Ile1679Thr)
c.5039T>C (p.Ile1680Thr)
c.4913T>C (p.Ile1638Thr)
c.5033T>C (p.Ile1678Thr)
c.4961T>C (p.Ile1654Thr)
c.1727T>C (p.Ile576Thr)
c.1589T>C (p.Ile530Thr)
c.4151T>C (p.Ile1384Thr)
c.4916T>C (p.Ile1639Thr)
c.5105T>C (p.Ile1702Thr)
c.4898T>C (p.Ile1633Thr)
c.1601T>C (p.Ile534Thr)
c.5102T>C (p.Ile1701Thr)
c.1426T>C
c.1613T>C (p.Ile538Thr)
c.*4822T>C (n.*4822T>C)
n.192T>C
c.1352T>C (p.Ile451Thr)
c.5-3692T>C (n.5-3692T>C)
c.512T>C (p.Ile171Thr)
c.-98-17453T>C (n.-98-17453T>C)
n.5175T>C
n.5216T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43067643A>TCA10591439BRCA1c.5036T>A (p.Ile1679Asn)
c.5039T>A (p.Ile1680Asn)
c.4913T>A (p.Ile1638Asn)
c.5033T>A (p.Ile1678Asn)
c.4961T>A (p.Ile1654Asn)
c.1727T>A (p.Ile576Asn)
c.1589T>A (p.Ile530Asn)
c.4151T>A (p.Ile1384Asn)
c.4916T>A (p.Ile1639Asn)
c.5105T>A (p.Ile1702Asn)
c.4898T>A (p.Ile1633Asn)
c.1601T>A (p.Ile534Asn)
c.5102T>A (p.Ile1701Asn)
c.1426T>A
c.1613T>A (p.Ile538Asn)
c.*4822T>A (n.*4822T>A)
n.192T>A
c.1352T>A (p.Ile451Asn)
c.5-3692T>A (n.5-3692T>A)
c.512T>A (p.Ile171Asn)
c.-98-17453T>A (n.-98-17453T>A)
n.5175T>A
n.5216T>A
 ClinVar dbSNP
17g.43067648_43067652delCA003164BRCA1c.5032_5036del (p.Leu1678TyrfsTer2)
c.5035_5039del (p.Leu1679TyrfsTer2)
c.4909_4913del (p.Leu1637TyrfsTer2)
c.5029_5033del (p.Leu1677TyrfsTer2)
c.4957_4961del (p.Leu1653TyrfsTer2)
c.1723_1727del (p.Leu575TyrfsTer2)
c.1585_1589del (p.Leu529TyrfsTer2)
c.4147_4151del (p.Leu1383TyrfsTer2)
c.4912_4916del (p.Leu1638TyrfsTer2)
c.5101_5105del (p.Leu1701TyrfsTer2)
c.4894_4898del (p.Leu1632TyrfsTer2)
c.1597_1601del (p.Leu533TyrfsTer2)
c.5098_5102del (p.Leu1700TyrfsTer2)
c.1422_1426del
c.1609_1613del (p.Leu537TyrfsTer2)
c.*4818_*4822del (n.*4818_*4822del)
n.188_192del
c.1348_1352del (p.Leu450TyrfsTer2)
c.5-3696_5-3692del (n.5-3696_5-3692del)
c.508_512del (p.Leu170TyrfsTer2)
c.-98-17457_-98-17453del (n.-98-17457_-98-17453del)
n.5171_5175del
n.5212_5216del
 ClinVar dbSNP
17g.43067644T>ACA10591440BRCA1c.5035A>T (p.Ile1679Phe)
c.5038A>T (p.Ile1680Phe)
c.4912A>T (p.Ile1638Phe)
c.5032A>T (p.Ile1678Phe)
c.4960A>T (p.Ile1654Phe)
c.1726A>T (p.Ile576Phe)
c.1588A>T (p.Ile530Phe)
c.4150A>T (p.Ile1384Phe)
c.4915A>T (p.Ile1639Phe)
c.5104A>T (p.Ile1702Phe)
c.4897A>T (p.Ile1633Phe)
c.1600A>T (p.Ile534Phe)
c.5101A>T (p.Ile1701Phe)
c.1425A>T
c.1612A>T (p.Ile538Phe)
c.*4821A>T (n.*4821A>T)
n.191A>T
c.1351A>T (p.Ile451Phe)
c.5-3693A>T (n.5-3693A>T)
c.511A>T (p.Ile171Phe)
c.-98-17454A>T (n.-98-17454A>T)
n.5174A>T
n.5215A>T
 ClinVar dbSNP
17g.43067644T>CCA10591441BRCA1c.5035A>G (p.Ile1679Val)
c.5038A>G (p.Ile1680Val)
c.4912A>G (p.Ile1638Val)
c.5032A>G (p.Ile1678Val)
c.4960A>G (p.Ile1654Val)
c.1726A>G (p.Ile576Val)
c.1588A>G (p.Ile530Val)
c.4150A>G (p.Ile1384Val)
c.4915A>G (p.Ile1639Val)
c.5104A>G (p.Ile1702Val)
c.4897A>G (p.Ile1633Val)
c.1600A>G (p.Ile534Val)
c.5101A>G (p.Ile1701Val)
c.1425A>G
c.1612A>G (p.Ile538Val)
c.*4821A>G (n.*4821A>G)
n.191A>G
c.1351A>G (p.Ile451Val)
c.5-3693A>G (n.5-3693A>G)
c.511A>G (p.Ile171Val)
c.-98-17454A>G (n.-98-17454A>G)
n.5174A>G
n.5215A>G
 ClinVar dbSNP
17g.43067644T>GCA10591442BRCA1c.5035A>C (p.Ile1679Leu)
c.5038A>C (p.Ile1680Leu)
c.4912A>C (p.Ile1638Leu)
c.5032A>C (p.Ile1678Leu)
c.4960A>C (p.Ile1654Leu)
c.1726A>C (p.Ile576Leu)
c.1588A>C (p.Ile530Leu)
c.4150A>C (p.Ile1384Leu)
c.4915A>C (p.Ile1639Leu)
c.5104A>C (p.Ile1702Leu)
c.4897A>C (p.Ile1633Leu)
c.1600A>C (p.Ile534Leu)
c.5101A>C (p.Ile1701Leu)
c.1425A>C
c.1612A>C (p.Ile538Leu)
c.*4821A>C (n.*4821A>C)
n.191A>C
c.1351A>C (p.Ile451Leu)
c.5-3693A>C (n.5-3693A>C)
c.511A>C (p.Ile171Leu)
c.-98-17454A>C (n.-98-17454A>C)
n.5174A>C
n.5215A>C
 ClinVar dbSNP
17g.43067644T=CA2260771354BRCA1c.5035A= (p.Ile1679=)
c.5038A= (p.Ile1680=)
c.4912A= (p.Ile1638=)
c.5032A= (p.Ile1678=)
c.4960A= (p.Ile1654=)
c.1726A= (p.Ile576=)
c.1588A= (p.Ile530=)
c.4150A= (p.Ile1384=)
c.4915A= (p.Ile1639=)
c.5104A= (p.Ile1702=)
c.4897A= (p.Ile1633=)
c.1600A= (p.Ile534=)
c.5101A= (p.Ile1701=)
c.1425A=
c.1612A= (p.Ile538=)
c.*4821A= (n.*4821A=)
n.191A=
c.1351A= (p.Ile451=)
c.5-3693A= (n.5-3693A=)
c.511A= (p.Ile171=)
c.-98-17454A= (n.-98-17454A=)
n.5174A=
n.5215A=
17g.43067644_43067662delCA1139770779BRCA1c.5017_5035del (p.Ile1673LeufsTer10)
c.5020_5038del (p.Ile1674LeufsTer10)
c.4894_4912del (p.Ile1632LeufsTer10)
c.5014_5032del (p.Ile1672LeufsTer10)
c.4942_4960del (p.Ile1648LeufsTer10)
c.1708_1726del (p.Ile570LeufsTer10)
c.1570_1588del (p.Ile524LeufsTer10)
c.4132_4150del (p.Ile1378LeufsTer10)
c.4897_4915del (p.Ile1633LeufsTer10)
c.5086_5104del (p.Ile1696LeufsTer10)
c.4879_4897del (p.Ile1627LeufsTer10)
c.1582_1600del (p.Ile528LeufsTer10)
c.5083_5101del (p.Ile1695LeufsTer10)
c.1407_1425del
c.1594_1612del (p.Ile532LeufsTer10)
c.*4803_*4821del (n.*4803_*4821del)
n.173_191del
c.1333_1351del (p.Ile445LeufsTer10)
c.5-3711_5-3693del (n.5-3711_5-3693del)
c.493_511del (p.Ile165LeufsTer10)
c.-98-17472_-98-17454del (n.-98-17472_-98-17454del)
n.5156_5174del
n.5197_5215del
17g.43067645T>ACA500146346BRCA1c.5034A>T (p.Leu1678=)
c.5037A>T (p.Leu1679=)
c.4911A>T (p.Leu1637=)
c.5031A>T (p.Leu1677=)
c.4959A>T (p.Leu1653=)
c.1725A>T (p.Leu575=)
c.1587A>T (p.Leu529=)
c.4149A>T (p.Leu1383=)
c.4914A>T (p.Leu1638=)
c.5103A>T (p.Leu1701=)
c.4896A>T (p.Leu1632=)
c.1599A>T (p.Leu533=)
c.5100A>T (p.Leu1700=)
c.1424A>T
c.1611A>T (p.Leu537=)
c.*4820A>T (n.*4820A>T)
n.190A>T
c.1350A>T (p.Leu450=)
c.5-3694A>T (n.5-3694A>T)
c.510A>T (p.Leu170=)
c.-98-17455A>T (n.-98-17455A>T)
n.5173A>T
n.5214A>T
 ClinVar dbSNP
17g.43067645T>CCA053733BRCA1c.5034A>G (p.Leu1678=)
c.5037A>G (p.Leu1679=)
c.4911A>G (p.Leu1637=)
c.5031A>G (p.Leu1677=)
c.4959A>G (p.Leu1653=)
c.1725A>G (p.Leu575=)
c.1587A>G (p.Leu529=)
c.4149A>G (p.Leu1383=)
c.4914A>G (p.Leu1638=)
c.5103A>G (p.Leu1701=)
c.4896A>G (p.Leu1632=)
c.1599A>G (p.Leu533=)
c.5100A>G (p.Leu1700=)
c.1424A>G
c.1611A>G (p.Leu537=)
c.*4820A>G (n.*4820A>G)
n.190A>G
c.1350A>G (p.Leu450=)
c.5-3694A>G (n.5-3694A>G)
c.510A>G (p.Leu170=)
c.-98-17455A>G (n.-98-17455A>G)
n.5173A>G
n.5214A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43067645T>GCA500146347BRCA1c.5034A>C (p.Leu1678=)
c.5037A>C (p.Leu1679=)
c.4911A>C (p.Leu1637=)
c.5031A>C (p.Leu1677=)
c.4959A>C (p.Leu1653=)
c.1725A>C (p.Leu575=)
c.1587A>C (p.Leu529=)
c.4149A>C (p.Leu1383=)
c.4914A>C (p.Leu1638=)
c.5103A>C (p.Leu1701=)
c.4896A>C (p.Leu1632=)
c.1599A>C (p.Leu533=)
c.5100A>C (p.Leu1700=)
c.1424A>C
c.1611A>C (p.Leu537=)
c.*4820A>C (n.*4820A>C)
n.190A>C
c.1350A>C (p.Leu450=)
c.5-3694A>C (n.5-3694A>C)
c.510A>C (p.Leu170=)
c.-98-17455A>C (n.-98-17455A>C)
n.5173A>C
n.5214A>C
 ClinVar dbSNP
17g.43067645T=CA2260771356BRCA1c.5034A= (p.Leu1678=)
c.5037A= (p.Leu1679=)
c.4911A= (p.Leu1637=)
c.5031A= (p.Leu1677=)
c.4959A= (p.Leu1653=)
c.1725A= (p.Leu575=)
c.1587A= (p.Leu529=)
c.4149A= (p.Leu1383=)
c.4914A= (p.Leu1638=)
c.5103A= (p.Leu1701=)
c.4896A= (p.Leu1632=)
c.1599A= (p.Leu533=)
c.5100A= (p.Leu1700=)
c.1424A=
c.1611A= (p.Leu537=)
c.*4820A= (n.*4820A=)
n.190A=
c.1350A= (p.Leu450=)
c.5-3694A= (n.5-3694A=)
c.510A= (p.Leu170=)
c.-98-17455A= (n.-98-17455A=)
n.5173A=
n.5214A=
17g.43067645_43067646delCA2697559915BRCA1c.5033_5034del (p.Leu1678HisfsTer3)
c.5036_5037del (p.Leu1679HisfsTer3)
c.4910_4911del (p.Leu1637HisfsTer3)
c.5030_5031del (p.Leu1677HisfsTer3)
c.4958_4959del (p.Leu1653HisfsTer3)
c.1724_1725del (p.Leu575HisfsTer3)
c.1586_1587del (p.Leu529HisfsTer3)
c.4148_4149del (p.Leu1383HisfsTer3)
c.4913_4914del (p.Leu1638HisfsTer3)
c.5102_5103del (p.Leu1701HisfsTer3)
c.4895_4896del (p.Leu1632HisfsTer3)
c.1598_1599del (p.Leu533HisfsTer3)
c.5099_5100del (p.Leu1700HisfsTer3)
c.1423_1424del
c.1610_1611del (p.Leu537HisfsTer3)
c.*4819_*4820del (n.*4819_*4820del)
n.189_190del
c.1349_1350del (p.Leu450HisfsTer3)
c.5-3695_5-3694del (n.5-3695_5-3694del)
c.509_510del (p.Leu170HisfsTer3)
c.-98-17456_-98-17455del (n.-98-17456_-98-17455del)
n.5172_5173del
n.5213_5214del
 ClinVar
17g.43067645_43067656delinsTAGATTAGTTAACA2260771355BRCA1c.5023_5034delinsTTAACTAATCTA (p.Leu1675=)
c.5026_5037delinsTTAACTAATCTA (p.Leu1676=)
c.4900_4911delinsTTAACTAATCTA (p.Leu1634=)
c.5020_5031delinsTTAACTAATCTA (p.Leu1674=)
c.4948_4959delinsTTAACTAATCTA (p.Leu1650=)
c.1714_1725delinsTTAACTAATCTA (p.Leu572=)
c.1576_1587delinsTTAACTAATCTA (p.Leu526=)
c.4138_4149delinsTTAACTAATCTA (p.Leu1380=)
c.4903_4914delinsTTAACTAATCTA (p.Leu1635=)
c.5092_5103delinsTTAACTAATCTA (p.Leu1698=)
c.4885_4896delinsTTAACTAATCTA (p.Leu1629=)
c.1588_1599delinsTTAACTAATCTA (p.Leu530=)
c.5089_5100delinsTTAACTAATCTA (p.Leu1697=)
c.1413_1424delinsTTAACTAATCTA
c.1600_1611delinsTTAACTAATCTA (p.Leu534=)
c.*4809_*4820delinsTTAACTAATCTA (n.*4809_*4820delinsTTAACTAATCTA)
n.179_190delinsTTAACTAATCTA
c.1339_1350delinsTTAACTAATCTA (p.Leu447=)
c.5-3705_5-3694delinsTTAACTAATCTA (n.5-3705_5-3694delinsTTAACTAATCTA)
c.499_510delinsTTAACTAATCTA (p.Leu167=)
c.-98-17466_-98-17455delinsTTAACTAATCTA (n.-98-17466_-98-17455delinsTTAACTAATCTA)
n.5162_5173delinsTTAACTAATCTA
n.5203_5214delinsTTAACTAATCTA
17g.43067646A=CA2260771357BRCA1c.5033T= (p.Leu1678=)
c.5036T= (p.Leu1679=)
c.4910T= (p.Leu1637=)
c.5030T= (p.Leu1677=)
c.4958T= (p.Leu1653=)
c.1724T= (p.Leu575=)
c.1586T= (p.Leu529=)
c.4148T= (p.Leu1383=)
c.4913T= (p.Leu1638=)
c.5102T= (p.Leu1701=)
c.4895T= (p.Leu1632=)
c.1598T= (p.Leu533=)
c.5099T= (p.Leu1700=)
c.1423T=
c.1610T= (p.Leu537=)
c.*4819T= (n.*4819T=)
n.189T=
c.1349T= (p.Leu450=)
c.5-3695T= (n.5-3695T=)
c.509T= (p.Leu170=)
c.-98-17456T= (n.-98-17456T=)
n.5172T=
n.5213T=
17g.43067646A>CCA10591443BRCA1c.5033T>G (p.Leu1678Arg)
c.5036T>G (p.Leu1679Arg)
c.4910T>G (p.Leu1637Arg)
c.5030T>G (p.Leu1677Arg)
c.4958T>G (p.Leu1653Arg)
c.1724T>G (p.Leu575Arg)
c.1586T>G (p.Leu529Arg)
c.4148T>G (p.Leu1383Arg)
c.4913T>G (p.Leu1638Arg)
c.5102T>G (p.Leu1701Arg)
c.4895T>G (p.Leu1632Arg)
c.1598T>G (p.Leu533Arg)
c.5099T>G (p.Leu1700Arg)
c.1423T>G
c.1610T>G (p.Leu537Arg)
c.*4819T>G (n.*4819T>G)
n.189T>G
c.1349T>G (p.Leu450Arg)
c.5-3695T>G (n.5-3695T>G)
c.509T>G (p.Leu170Arg)
c.-98-17456T>G (n.-98-17456T>G)
n.5172T>G
n.5213T>G
 ClinVar dbSNP
17g.43067646A>GCA053724BRCA1c.5033T>C (p.Leu1678Pro)
c.5036T>C (p.Leu1679Pro)
c.4910T>C (p.Leu1637Pro)
c.5030T>C (p.Leu1677Pro)
c.4958T>C (p.Leu1653Pro)
c.1724T>C (p.Leu575Pro)
c.1586T>C (p.Leu529Pro)
c.4148T>C (p.Leu1383Pro)
c.4913T>C (p.Leu1638Pro)
c.5102T>C (p.Leu1701Pro)
c.4895T>C (p.Leu1632Pro)
c.1598T>C (p.Leu533Pro)
c.5099T>C (p.Leu1700Pro)
c.1423T>C
c.1610T>C (p.Leu537Pro)
c.*4819T>C (n.*4819T>C)
n.189T>C
c.1349T>C (p.Leu450Pro)
c.5-3695T>C (n.5-3695T>C)
c.509T>C (p.Leu170Pro)
c.-98-17456T>C (n.-98-17456T>C)
n.5172T>C
n.5213T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43067646A>TCA10591444BRCA1c.5033T>A (p.Leu1678Gln)
c.5036T>A (p.Leu1679Gln)
c.4910T>A (p.Leu1637Gln)
c.5030T>A (p.Leu1677Gln)
c.4958T>A (p.Leu1653Gln)
c.1724T>A (p.Leu575Gln)
c.1586T>A (p.Leu529Gln)
c.4148T>A (p.Leu1383Gln)
c.4913T>A (p.Leu1638Gln)
c.5102T>A (p.Leu1701Gln)
c.4895T>A (p.Leu1632Gln)
c.1598T>A (p.Leu533Gln)
c.5099T>A (p.Leu1700Gln)
c.1423T>A
c.1610T>A (p.Leu537Gln)
c.*4819T>A (n.*4819T>A)
n.189T>A
c.1349T>A (p.Leu450Gln)
c.5-3695T>A (n.5-3695T>A)
c.509T>A (p.Leu170Gln)
c.-98-17456T>A (n.-98-17456T>A)
n.5172T>A
n.5213T>A
 ClinVar dbSNP
17g.43067646_43067647delinsAGCA2260771358BRCA1c.5032_5033delinsCT (p.Leu1678=)
c.5035_5036delinsCT (p.Leu1679=)
c.4909_4910delinsCT (p.Leu1637=)
c.5029_5030delinsCT (p.Leu1677=)
c.4957_4958delinsCT (p.Leu1653=)
c.1723_1724delinsCT (p.Leu575=)
c.1585_1586delinsCT (p.Leu529=)
c.4147_4148delinsCT (p.Leu1383=)
c.4912_4913delinsCT (p.Leu1638=)
c.5101_5102delinsCT (p.Leu1701=)
c.4894_4895delinsCT (p.Leu1632=)
c.1597_1598delinsCT (p.Leu533=)
c.5098_5099delinsCT (p.Leu1700=)
c.1422_1423delinsCT
c.1609_1610delinsCT (p.Leu537=)
c.*4818_*4819delinsCT (n.*4818_*4819delinsCT)
n.188_189delinsCT
c.1348_1349delinsCT (p.Leu450=)
c.5-3696_5-3695delinsCT (n.5-3696_5-3695delinsCT)
c.508_509delinsCT (p.Leu170=)
c.-98-17457_-98-17456delinsCT (n.-98-17457_-98-17456delinsCT)
n.5171_5172delinsCT
n.5212_5213delinsCT
17g.43067648_43067658delCA003157BRCA1c.5023_5033del (p.Leu1675AsnfsTer3)
c.5026_5036del (p.Leu1676AsnfsTer3)
c.4900_4910del (p.Leu1634AsnfsTer3)
c.5020_5030del (p.Leu1674AsnfsTer3)
c.4948_4958del (p.Leu1650AsnfsTer3)
c.1714_1724del (p.Leu572AsnfsTer3)
c.1576_1586del (p.Leu526AsnfsTer3)
c.4138_4148del (p.Leu1380AsnfsTer3)
c.4903_4913del (p.Leu1635AsnfsTer3)
c.5092_5102del (p.Leu1698AsnfsTer3)
c.4885_4895del (p.Leu1629AsnfsTer3)
c.1588_1598del (p.Leu530AsnfsTer3)
c.5089_5099del (p.Leu1697AsnfsTer3)
c.1413_1423del
c.1600_1610del (p.Leu534AsnfsTer3)
c.*4809_*4819del (n.*4809_*4819del)
n.179_189del
c.1339_1349del (p.Leu447AsnfsTer3)
c.5-3705_5-3695del (n.5-3705_5-3695del)
c.499_509del (p.Leu167AsnfsTer3)
c.-98-17466_-98-17456del (n.-98-17466_-98-17456del)
n.5162_5172del
n.5203_5213del
 ClinVar dbSNP
17g.43067647delCA003166BRCA1c.5032del (p.Leu1678Ter)
c.5035del (p.Leu1679Ter)
c.4909del (p.Leu1637Ter)
c.5029del (p.Leu1677Ter)
c.4957del (p.Leu1653Ter)
c.1723del (p.Leu575Ter)
c.1585del (p.Leu529Ter)
c.4147del (p.Leu1383Ter)
c.4912del (p.Leu1638Ter)
c.5101del (p.Leu1701Ter)
c.4894del (p.Leu1632Ter)
c.1597del (p.Leu533Ter)
c.5098del (p.Leu1700Ter)
c.1422del
c.1609del (p.Leu537Ter)
c.*4818del (n.*4818del)
n.188del
c.1348del (p.Leu450Ter)
c.5-3696del (n.5-3696del)
c.508del (p.Leu170Ter)
c.-98-17457del (n.-98-17457del)
n.5171del
n.5212del
 ClinVar dbSNP gnomAD v4
17g.43067647G>ACA500146351BRCA1c.5032C>T (p.Leu1678=)
c.5035C>T (p.Leu1679=)
c.4909C>T (p.Leu1637=)
c.5029C>T (p.Leu1677=)
c.4957C>T (p.Leu1653=)
c.1723C>T (p.Leu575=)
c.1585C>T (p.Leu529=)
c.4147C>T (p.Leu1383=)
c.4912C>T (p.Leu1638=)
c.5101C>T (p.Leu1701=)
c.4894C>T (p.Leu1632=)
c.1597C>T (p.Leu533=)
c.5098C>T (p.Leu1700=)
c.1422C>T
c.1609C>T (p.Leu537=)
c.*4818C>T (n.*4818C>T)
n.188C>T
c.1348C>T (p.Leu450=)
c.5-3696C>T (n.5-3696C>T)
c.508C>T (p.Leu170=)
c.-98-17457C>T (n.-98-17457C>T)
n.5171C>T
n.5212C>T
 ClinVar dbSNP
17g.43067647G>CCA10591445BRCA1c.5032C>G (p.Leu1678Val)
c.5035C>G (p.Leu1679Val)
c.4909C>G (p.Leu1637Val)
c.5029C>G (p.Leu1677Val)
c.4957C>G (p.Leu1653Val)
c.1723C>G (p.Leu575Val)
c.1585C>G (p.Leu529Val)
c.4147C>G (p.Leu1383Val)
c.4912C>G (p.Leu1638Val)
c.5101C>G (p.Leu1701Val)
c.4894C>G (p.Leu1632Val)
c.1597C>G (p.Leu533Val)
c.5098C>G (p.Leu1700Val)
c.1422C>G
c.1609C>G (p.Leu537Val)
c.*4818C>G (n.*4818C>G)
n.188C>G
c.1348C>G (p.Leu450Val)
c.5-3696C>G (n.5-3696C>G)
c.508C>G (p.Leu170Val)
c.-98-17457C>G (n.-98-17457C>G)
n.5171C>G
n.5212C>G
 ClinVar dbSNP
17g.43067647G=CA2260771360BRCA1c.5032C= (p.Leu1678=)
c.5035C= (p.Leu1679=)
c.4909C= (p.Leu1637=)
c.5029C= (p.Leu1677=)
c.4957C= (p.Leu1653=)
c.1723C= (p.Leu575=)
c.1585C= (p.Leu529=)
c.4147C= (p.Leu1383=)
c.4912C= (p.Leu1638=)
c.5101C= (p.Leu1701=)
c.4894C= (p.Leu1632=)
c.1597C= (p.Leu533=)
c.5098C= (p.Leu1700=)
c.1422C=
c.1609C= (p.Leu537=)
c.*4818C= (n.*4818C=)
n.188C=
c.1348C= (p.Leu450=)
c.5-3696C= (n.5-3696C=)
c.508C= (p.Leu170=)
c.-98-17457C= (n.-98-17457C=)
n.5171C=
n.5212C=
17g.43067647G>TCA10591446BRCA1c.5032C>A (p.Leu1678Ile)
c.5035C>A (p.Leu1679Ile)
c.4909C>A (p.Leu1637Ile)
c.5029C>A (p.Leu1677Ile)
c.4957C>A (p.Leu1653Ile)
c.1723C>A (p.Leu575Ile)
c.1585C>A (p.Leu529Ile)
c.4147C>A (p.Leu1383Ile)
c.4912C>A (p.Leu1638Ile)
c.5101C>A (p.Leu1701Ile)
c.4894C>A (p.Leu1632Ile)
c.1597C>A (p.Leu533Ile)
c.5098C>A (p.Leu1700Ile)
c.1422C>A
c.1609C>A (p.Leu537Ile)
c.*4818C>A (n.*4818C>A)
n.188C>A
c.1348C>A (p.Leu450Ile)
c.5-3696C>A (n.5-3696C>A)
c.508C>A (p.Leu170Ile)
c.-98-17457C>A (n.-98-17457C>A)
n.5171C>A
n.5212C>A
 ClinVar dbSNP gnomAD v4
17g.43067647_43067648delinsGACA2260771359BRCA1c.5031_5032delinsTC (p.Asn1677=)
c.5034_5035delinsTC (p.Asn1678=)
c.4908_4909delinsTC (p.Asn1636=)
c.5028_5029delinsTC (p.Asn1676=)
c.4956_4957delinsTC (p.Asn1652=)
c.1722_1723delinsTC (p.Asn574=)
c.1584_1585delinsTC (p.Asn528=)
c.4146_4147delinsTC (p.Asn1382=)
c.4911_4912delinsTC (p.Asn1637=)
c.5100_5101delinsTC (p.Asn1700=)
c.4893_4894delinsTC (p.Asn1631=)
c.1596_1597delinsTC (p.Asn532=)
c.5097_5098delinsTC (p.Asn1699=)
c.1421_1422delinsTC
c.1608_1609delinsTC (p.Asn536=)
c.*4817_*4818delinsTC (n.*4817_*4818delinsTC)
n.187_188delinsTC
c.1347_1348delinsTC (p.Asn449=)
c.5-3697_5-3696delinsTC (n.5-3697_5-3696delinsTC)
c.507_508delinsTC (p.Asn169=)
c.-98-17458_-98-17457delinsTC (n.-98-17458_-98-17457delinsTC)
n.5170_5171delinsTC
n.5211_5212delinsTC
17g.43067648delCA1139665576BRCA1c.5031del (p.Leu1678Ter)
c.5034del (p.Leu1679Ter)
c.4908del (p.Leu1637Ter)
c.5028del (p.Leu1677Ter)
c.4956del (p.Leu1653Ter)
c.1722del (p.Leu575Ter)
c.1584del (p.Leu529Ter)
c.4146del (p.Leu1383Ter)
c.4911del (p.Leu1638Ter)
c.5100del (p.Leu1701Ter)
c.4893del (p.Leu1632Ter)
c.1596del (p.Leu533Ter)
c.5097del (p.Leu1700Ter)
c.1421del
c.1608del (p.Leu537Ter)
c.*4817del (n.*4817del)
n.187del
c.1347del (p.Leu450Ter)
c.5-3697del (n.5-3697del)
c.507del (p.Leu170Ter)
c.-98-17458del (n.-98-17458del)
n.5170del
n.5211del
 ClinVar dbSNP
17g.43067648A=CA2260771362BRCA1c.5031T= (p.Asn1677=)
c.5034T= (p.Asn1678=)
c.4908T= (p.Asn1636=)
c.5028T= (p.Asn1676=)
c.4956T= (p.Asn1652=)
c.1722T= (p.Asn574=)
c.1584T= (p.Asn528=)
c.4146T= (p.Asn1382=)
c.4911T= (p.Asn1637=)
c.5100T= (p.Asn1700=)
c.4893T= (p.Asn1631=)
c.1596T= (p.Asn532=)
c.5097T= (p.Asn1699=)
c.1421T=
c.1608T= (p.Asn536=)
c.*4817T= (n.*4817T=)
n.187T=
c.1347T= (p.Asn449=)
c.5-3697T= (n.5-3697T=)
c.507T= (p.Asn169=)
c.-98-17458T= (n.-98-17458T=)
n.5170T=
n.5211T=
17g.43067648A>CCA10591447BRCA1c.5031T>G (p.Asn1677Lys)
c.5034T>G (p.Asn1678Lys)
c.4908T>G (p.Asn1636Lys)
c.5028T>G (p.Asn1676Lys)
c.4956T>G (p.Asn1652Lys)
c.1722T>G (p.Asn574Lys)
c.1584T>G (p.Asn528Lys)
c.4146T>G (p.Asn1382Lys)
c.4911T>G (p.Asn1637Lys)
c.5100T>G (p.Asn1700Lys)
c.4893T>G (p.Asn1631Lys)
c.1596T>G (p.Asn532Lys)
c.5097T>G (p.Asn1699Lys)
c.1421T>G
c.1608T>G (p.Asn536Lys)
c.*4817T>G (n.*4817T>G)
n.187T>G
c.1347T>G (p.Asn449Lys)
c.5-3697T>G (n.5-3697T>G)
c.507T>G (p.Asn169Lys)
c.-98-17458T>G (n.-98-17458T>G)
n.5170T>G
n.5211T>G
 ClinVar dbSNP
17g.43067648A>GCA290827791BRCA1c.5031T>C (p.Asn1677=)
c.5034T>C (p.Asn1678=)
c.4908T>C (p.Asn1636=)
c.5028T>C (p.Asn1676=)
c.4956T>C (p.Asn1652=)
c.1722T>C (p.Asn574=)
c.1584T>C (p.Asn528=)
c.4146T>C (p.Asn1382=)
c.4911T>C (p.Asn1637=)
c.5100T>C (p.Asn1700=)
c.4893T>C (p.Asn1631=)
c.1596T>C (p.Asn532=)
c.5097T>C (p.Asn1699=)
c.1421T>C
c.1608T>C (p.Asn536=)
c.*4817T>C (n.*4817T>C)
n.187T>C
c.1347T>C (p.Asn449=)
c.5-3697T>C (n.5-3697T>C)
c.507T>C (p.Asn169=)
c.-98-17458T>C (n.-98-17458T>C)
n.5170T>C
n.5211T>C
 ClinVar dbSNP
17g.43067648A>TCA10591448BRCA1c.5031T>A (p.Asn1677Lys)
c.5034T>A (p.Asn1678Lys)
c.4908T>A (p.Asn1636Lys)
c.5028T>A (p.Asn1676Lys)
c.4956T>A (p.Asn1652Lys)
c.1722T>A (p.Asn574Lys)
c.1584T>A (p.Asn528Lys)
c.4146T>A (p.Asn1382Lys)
c.4911T>A (p.Asn1637Lys)
c.5100T>A (p.Asn1700Lys)
c.4893T>A (p.Asn1631Lys)
c.1596T>A (p.Asn532Lys)
c.5097T>A (p.Asn1699Lys)
c.1421T>A
c.1608T>A (p.Asn536Lys)
c.*4817T>A (n.*4817T>A)
n.187T>A
c.1347T>A (p.Asn449Lys)
c.5-3697T>A (n.5-3697T>A)
c.507T>A (p.Asn169Lys)
c.-98-17458T>A (n.-98-17458T>A)
n.5170T>A
n.5211T>A
 ClinVar dbSNP
17g.43067648_43067652delinsATTAGCA2260771361BRCA1c.5027_5031delinsCTAAT (p.Thr1676=)
c.5030_5034delinsCTAAT (p.Thr1677=)
c.4904_4908delinsCTAAT (p.Thr1635=)
c.5024_5028delinsCTAAT (p.Thr1675=)
c.4952_4956delinsCTAAT (p.Thr1651=)
c.1718_1722delinsCTAAT (p.Thr573=)
c.1580_1584delinsCTAAT (p.Thr527=)
c.4142_4146delinsCTAAT (p.Thr1381=)
c.4907_4911delinsCTAAT (p.Thr1636=)
c.5096_5100delinsCTAAT (p.Thr1699=)
c.4889_4893delinsCTAAT (p.Thr1630=)
c.1592_1596delinsCTAAT (p.Thr531=)
c.5093_5097delinsCTAAT (p.Thr1698=)
c.1417_1421delinsCTAAT
c.1604_1608delinsCTAAT (p.Thr535=)
c.*4813_*4817delinsCTAAT (n.*4813_*4817delinsCTAAT)
n.183_187delinsCTAAT
c.1343_1347delinsCTAAT (p.Thr448=)
c.5-3701_5-3697delinsCTAAT (n.5-3701_5-3697delinsCTAAT)
c.503_507delinsCTAAT (p.Thr168=)
c.-98-17462_-98-17458delinsCTAAT (n.-98-17462_-98-17458delinsCTAAT)
n.5166_5170delinsCTAAT
n.5207_5211delinsCTAAT
17g.43067649_43067657delCA2580093982BRCA1c.5023_5031del (p.Leu1675_Asn1677del)
c.5026_5034del (p.Leu1676_Asn1678del)
c.4900_4908del (p.Leu1634_Asn1636del)
c.5020_5028del (p.Leu1674_Asn1676del)
c.4948_4956del (p.Leu1650_Asn1652del)
c.1714_1722del (p.Leu572_Asn574del)
c.1576_1584del (p.Leu526_Asn528del)
c.4138_4146del (p.Leu1380_Asn1382del)
c.4903_4911del (p.Leu1635_Asn1637del)
c.5092_5100del (p.Leu1698_Asn1700del)
c.4885_4893del (p.Leu1629_Asn1631del)
c.1588_1596del (p.Leu530_Asn532del)
c.5089_5097del (p.Leu1697_Asn1699del)
c.1413_1421del
c.1600_1608del (p.Leu534_Asn536del)
c.*4809_*4817del (n.*4809_*4817del)
n.179_187del
c.1339_1347del (p.Leu447_Asn449del)
c.5-3705_5-3697del (n.5-3705_5-3697del)
c.499_507del (p.Leu167_Asn169del)
c.-98-17466_-98-17458del (n.-98-17466_-98-17458del)
n.5162_5170del
n.5203_5211del
 ClinVar
17g.43067649T>ACA10591449BRCA1c.5030A>T (p.Asn1677Ile)
c.5033A>T (p.Asn1678Ile)
c.4907A>T (p.Asn1636Ile)
c.5027A>T (p.Asn1676Ile)
c.4955A>T (p.Asn1652Ile)
c.1721A>T (p.Asn574Ile)
c.1583A>T (p.Asn528Ile)
c.4145A>T (p.Asn1382Ile)
c.4910A>T (p.Asn1637Ile)
c.5099A>T (p.Asn1700Ile)
c.4892A>T (p.Asn1631Ile)
c.1595A>T (p.Asn532Ile)
c.5096A>T (p.Asn1699Ile)
c.1420A>T
c.1607A>T (p.Asn536Ile)
c.*4816A>T (n.*4816A>T)
n.186A>T
c.1346A>T (p.Asn449Ile)
c.5-3698A>T (n.5-3698A>T)
c.506A>T (p.Asn169Ile)
c.-98-17459A>T (n.-98-17459A>T)
n.5169A>T
n.5210A>T
 ClinVar dbSNP
17g.43067649T>CCA10591450BRCA1c.5030A>G (p.Asn1677Ser)
c.5033A>G (p.Asn1678Ser)
c.4907A>G (p.Asn1636Ser)
c.5027A>G (p.Asn1676Ser)
c.4955A>G (p.Asn1652Ser)
c.1721A>G (p.Asn574Ser)
c.1583A>G (p.Asn528Ser)
c.4145A>G (p.Asn1382Ser)
c.4910A>G (p.Asn1637Ser)
c.5099A>G (p.Asn1700Ser)
c.4892A>G (p.Asn1631Ser)
c.1595A>G (p.Asn532Ser)
c.5096A>G (p.Asn1699Ser)
c.1420A>G
c.1607A>G (p.Asn536Ser)
c.*4816A>G (n.*4816A>G)
n.186A>G
c.1346A>G (p.Asn449Ser)
c.5-3698A>G (n.5-3698A>G)
c.506A>G (p.Asn169Ser)
c.-98-17459A>G (n.-98-17459A>G)
n.5169A>G
n.5210A>G
 ClinVar dbSNP gnomAD v4
17g.43067649T>GCA10591451BRCA1c.5030A>C (p.Asn1677Thr)
c.5033A>C (p.Asn1678Thr)
c.4907A>C (p.Asn1636Thr)
c.5027A>C (p.Asn1676Thr)
c.4955A>C (p.Asn1652Thr)
c.1721A>C (p.Asn574Thr)
c.1583A>C (p.Asn528Thr)
c.4145A>C (p.Asn1382Thr)
c.4910A>C (p.Asn1637Thr)
c.5099A>C (p.Asn1700Thr)
c.4892A>C (p.Asn1631Thr)
c.1595A>C (p.Asn532Thr)
c.5096A>C (p.Asn1699Thr)
c.1420A>C
c.1607A>C (p.Asn536Thr)
c.*4816A>C (n.*4816A>C)
n.186A>C
c.1346A>C (p.Asn449Thr)
c.5-3698A>C (n.5-3698A>C)
c.506A>C (p.Asn169Thr)
c.-98-17459A>C (n.-98-17459A>C)
n.5169A>C
n.5210A>C
 ClinVar dbSNP
17g.43067649T=CA2260771363BRCA1c.5030A= (p.Asn1677=)
c.5033A= (p.Asn1678=)
c.4907A= (p.Asn1636=)
c.5027A= (p.Asn1676=)
c.4955A= (p.Asn1652=)
c.1721A= (p.Asn574=)
c.1583A= (p.Asn528=)
c.4145A= (p.Asn1382=)
c.4910A= (p.Asn1637=)
c.5099A= (p.Asn1700=)
c.4892A= (p.Asn1631=)
c.1595A= (p.Asn532=)
c.5096A= (p.Asn1699=)
c.1420A=
c.1607A= (p.Asn536=)
c.*4816A= (n.*4816A=)
n.186A=
c.1346A= (p.Asn449=)
c.5-3698A= (n.5-3698A=)
c.506A= (p.Asn169=)
c.-98-17459A= (n.-98-17459A=)
n.5169A=
n.5210A=
17g.43067650delCA1139770827BRCA1c.5030del (p.Asn1677IlefsTer2)
c.5033del (p.Asn1678IlefsTer2)
c.4907del (p.Asn1636IlefsTer2)
c.5027del (p.Asn1676IlefsTer2)
c.4955del (p.Asn1652IlefsTer2)
c.1721del (p.Asn574IlefsTer2)
c.1583del (p.Asn528IlefsTer2)
c.4145del (p.Asn1382IlefsTer2)
c.4910del (p.Asn1637IlefsTer2)
c.5099del (p.Asn1700IlefsTer2)
c.4892del (p.Asn1631IlefsTer2)
c.1595del (p.Asn532IlefsTer2)
c.5096del (p.Asn1699IlefsTer2)
c.1420del
c.1607del (p.Asn536IlefsTer2)
c.*4816del (n.*4816del)
n.186del
c.1346del (p.Asn449IlefsTer2)
c.5-3698del (n.5-3698del)
c.506del (p.Asn169IlefsTer2)
c.-98-17459del (n.-98-17459del)
n.5169del
n.5210del
17g.43067649_43067655delinsCCA2695225900BRCA1c.5024_5030delinsG (p.Leu1675_Asn1677delinsCys)
c.5027_5033delinsG (p.Leu1676_Asn1678delinsCys)
c.4901_4907delinsG (p.Leu1634_Asn1636delinsCys)
c.5021_5027delinsG (p.Leu1674_Asn1676delinsCys)
c.4949_4955delinsG (p.Leu1650_Asn1652delinsCys)
c.1715_1721delinsG (p.Leu572_Asn574delinsCys)
c.1577_1583delinsG (p.Leu526_Asn528delinsCys)
c.4139_4145delinsG (p.Leu1380_Asn1382delinsCys)
c.4904_4910delinsG (p.Leu1635_Asn1637delinsCys)
c.5093_5099delinsG (p.Leu1698_Asn1700delinsCys)
c.4886_4892delinsG (p.Leu1629_Asn1631delinsCys)
c.1589_1595delinsG (p.Leu530_Asn532delinsCys)
c.5090_5096delinsG (p.Leu1697_Asn1699delinsCys)
c.1414_1420delinsG
c.1601_1607delinsG (p.Leu534_Asn536delinsCys)
c.*4810_*4816delinsG (n.*4810_*4816delinsG)
n.180_186delinsG
c.1340_1346delinsG (p.Leu447_Asn449delinsCys)
c.5-3704_5-3698delinsG (n.5-3704_5-3698delinsG)
c.500_506delinsG (p.Leu167_Asn169delinsCys)
c.-98-17465_-98-17459delinsG (n.-98-17465_-98-17459delinsG)
n.5163_5169delinsG
n.5204_5210delinsG
17g.43067652_43067655dupCA10589628BRCA1c.5027_5030dup (p.Leu1678Ter)
c.5030_5033dup (p.Leu1679Ter)
c.4904_4907dup (p.Leu1637Ter)
c.5024_5027dup (p.Leu1677Ter)
c.4952_4955dup (p.Leu1653Ter)
c.1718_1721dup (p.Leu575Ter)
c.1580_1583dup (p.Leu529Ter)
c.4142_4145dup (p.Leu1383Ter)
c.4907_4910dup (p.Leu1638Ter)
c.5096_5099dup (p.Leu1701Ter)
c.4889_4892dup (p.Leu1632Ter)
c.1592_1595dup (p.Leu533Ter)
c.5093_5096dup (p.Leu1700Ter)
c.1417_1420dup
c.1604_1607dup (p.Leu537Ter)
c.*4813_*4816dup (n.*4813_*4816dup)
n.183_186dup
c.1343_1346dup (p.Leu450Ter)
c.5-3701_5-3698dup (n.5-3701_5-3698dup)
c.503_506dup (p.Leu170Ter)
c.-98-17462_-98-17459dup (n.-98-17462_-98-17459dup)
n.5166_5169dup
n.5207_5210dup
 ClinVar dbSNP
17g.43067652_43067655delCA003158BRCA1c.5027_5030del (p.Thr1676IlefsTer2)
c.5030_5033del (p.Thr1677IlefsTer2)
c.4904_4907del (p.Thr1635IlefsTer2)
c.5024_5027del (p.Thr1675IlefsTer2)
c.4952_4955del (p.Thr1651IlefsTer2)
c.1718_1721del (p.Thr573IlefsTer2)
c.1580_1583del (p.Thr527IlefsTer2)
c.4142_4145del (p.Thr1381IlefsTer2)
c.4907_4910del (p.Thr1636IlefsTer2)
c.5096_5099del (p.Thr1699IlefsTer2)
c.4889_4892del (p.Thr1630IlefsTer2)
c.1592_1595del (p.Thr531IlefsTer2)
c.5093_5096del (p.Thr1698IlefsTer2)
c.1417_1420del
c.1604_1607del (p.Thr535IlefsTer2)
c.*4813_*4816del (n.*4813_*4816del)
n.183_186del
c.1343_1346del (p.Thr448IlefsTer2)
c.5-3701_5-3698del (n.5-3701_5-3698del)
c.503_506del (p.Thr168IlefsTer2)
c.-98-17462_-98-17459del (n.-98-17462_-98-17459del)
n.5166_5169del
n.5207_5210del
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43067650T>ACA10591452BRCA1c.5029A>T (p.Asn1677Tyr)
c.5032A>T (p.Asn1678Tyr)
c.4906A>T (p.Asn1636Tyr)
c.5026A>T (p.Asn1676Tyr)
c.4954A>T (p.Asn1652Tyr)
c.1720A>T (p.Asn574Tyr)
c.1582A>T (p.Asn528Tyr)
c.4144A>T (p.Asn1382Tyr)
c.4909A>T (p.Asn1637Tyr)
c.5098A>T (p.Asn1700Tyr)
c.4891A>T (p.Asn1631Tyr)
c.1594A>T (p.Asn532Tyr)
c.5095A>T (p.Asn1699Tyr)
c.1419A>T
c.1606A>T (p.Asn536Tyr)
c.*4815A>T (n.*4815A>T)
n.185A>T
c.1345A>T (p.Asn449Tyr)
c.5-3699A>T (n.5-3699A>T)
c.505A>T (p.Asn169Tyr)
c.-98-17460A>T (n.-98-17460A>T)
n.5168A>T
n.5209A>T
 ClinVar dbSNP
17g.43067650T>CCA10591453BRCA1c.5029A>G (p.Asn1677Asp)
c.5032A>G (p.Asn1678Asp)
c.4906A>G (p.Asn1636Asp)
c.5026A>G (p.Asn1676Asp)
c.4954A>G (p.Asn1652Asp)
c.1720A>G (p.Asn574Asp)
c.1582A>G (p.Asn528Asp)
c.4144A>G (p.Asn1382Asp)
c.4909A>G (p.Asn1637Asp)
c.5098A>G (p.Asn1700Asp)
c.4891A>G (p.Asn1631Asp)
c.1594A>G (p.Asn532Asp)
c.5095A>G (p.Asn1699Asp)
c.1419A>G
c.1606A>G (p.Asn536Asp)
c.*4815A>G (n.*4815A>G)
n.185A>G
c.1345A>G (p.Asn449Asp)
c.5-3699A>G (n.5-3699A>G)
c.505A>G (p.Asn169Asp)
c.-98-17460A>G (n.-98-17460A>G)
n.5168A>G
n.5209A>G
 ClinVar dbSNP
17g.43067650T>GCA10591454BRCA1c.5029A>C (p.Asn1677His)
c.5032A>C (p.Asn1678His)
c.4906A>C (p.Asn1636His)
c.5026A>C (p.Asn1676His)
c.4954A>C (p.Asn1652His)
c.1720A>C (p.Asn574His)
c.1582A>C (p.Asn528His)
c.4144A>C (p.Asn1382His)
c.4909A>C (p.Asn1637His)
c.5098A>C (p.Asn1700His)
c.4891A>C (p.Asn1631His)
c.1594A>C (p.Asn532His)
c.5095A>C (p.Asn1699His)
c.1419A>C
c.1606A>C (p.Asn536His)
c.*4815A>C (n.*4815A>C)
n.185A>C
c.1345A>C (p.Asn449His)
c.5-3699A>C (n.5-3699A>C)
c.505A>C (p.Asn169His)
c.-98-17460A>C (n.-98-17460A>C)
n.5168A>C
n.5209A>C
 ClinVar dbSNP
17g.43067650T=CA2260771365BRCA1c.5029A= (p.Asn1677=)
c.5032A= (p.Asn1678=)
c.4906A= (p.Asn1636=)
c.5026A= (p.Asn1676=)
c.4954A= (p.Asn1652=)
c.1720A= (p.Asn574=)
c.1582A= (p.Asn528=)
c.4144A= (p.Asn1382=)
c.4909A= (p.Asn1637=)
c.5098A= (p.Asn1700=)
c.4891A= (p.Asn1631=)
c.1594A= (p.Asn532=)
c.5095A= (p.Asn1699=)
c.1419A=
c.1606A= (p.Asn536=)
c.*4815A= (n.*4815A=)
n.185A=
c.1345A= (p.Asn449=)
c.5-3699A= (n.5-3699A=)
c.505A= (p.Asn169=)
c.-98-17460A= (n.-98-17460A=)
n.5168A=
n.5209A=
17g.43067650_43067655delinsTAGTTACA2260771364BRCA1c.5024_5029delinsTAACTA (p.Leu1675=)
c.5027_5032delinsTAACTA (p.Leu1676=)
c.4901_4906delinsTAACTA (p.Leu1634=)
c.5021_5026delinsTAACTA (p.Leu1674=)
c.4949_4954delinsTAACTA (p.Leu1650=)
c.1715_1720delinsTAACTA (p.Leu572=)
c.1577_1582delinsTAACTA (p.Leu526=)
c.4139_4144delinsTAACTA (p.Leu1380=)
c.4904_4909delinsTAACTA (p.Leu1635=)
c.5093_5098delinsTAACTA (p.Leu1698=)
c.4886_4891delinsTAACTA (p.Leu1629=)
c.1589_1594delinsTAACTA (p.Leu530=)
c.5090_5095delinsTAACTA (p.Leu1697=)
c.1414_1419delinsTAACTA
c.1601_1606delinsTAACTA (p.Leu534=)
c.*4810_*4815delinsTAACTA (n.*4810_*4815delinsTAACTA)
n.180_185delinsTAACTA
c.1340_1345delinsTAACTA (p.Leu447=)
c.5-3704_5-3699delinsTAACTA (n.5-3704_5-3699delinsTAACTA)
c.500_505delinsTAACTA (p.Leu167=)
c.-98-17465_-98-17460delinsTAACTA (n.-98-17465_-98-17460delinsTAACTA)
n.5163_5168delinsTAACTA
n.5204_5209delinsTAACTA
17g.43067651A=CA2260771366BRCA1c.5028T= (p.Thr1676=)
c.5031T= (p.Thr1677=)
c.4905T= (p.Thr1635=)
c.5025T= (p.Thr1675=)
c.4953T= (p.Thr1651=)
c.1719T= (p.Thr573=)
c.1581T= (p.Thr527=)
c.4143T= (p.Thr1381=)
c.4908T= (p.Thr1636=)
c.5097T= (p.Thr1699=)
c.4890T= (p.Thr1630=)
c.1593T= (p.Thr531=)
c.5094T= (p.Thr1698=)
c.1418T=
c.1605T= (p.Thr535=)
c.*4814T= (n.*4814T=)
n.184T=
c.1344T= (p.Thr448=)
c.5-3700T= (n.5-3700T=)
c.504T= (p.Thr168=)
c.-98-17461T= (n.-98-17461T=)
n.5167T=
n.5208T=
17g.43067651A>CCA500146358BRCA1c.5028T>G (p.Thr1676=)
c.5031T>G (p.Thr1677=)
c.4905T>G (p.Thr1635=)
c.5025T>G (p.Thr1675=)
c.4953T>G (p.Thr1651=)
c.1719T>G (p.Thr573=)
c.1581T>G (p.Thr527=)
c.4143T>G (p.Thr1381=)
c.4908T>G (p.Thr1636=)
c.5097T>G (p.Thr1699=)
c.4890T>G (p.Thr1630=)
c.1593T>G (p.Thr531=)
c.5094T>G (p.Thr1698=)
c.1418T>G
c.1605T>G (p.Thr535=)
c.*4814T>G (n.*4814T>G)
n.184T>G
c.1344T>G (p.Thr448=)
c.5-3700T>G (n.5-3700T>G)
c.504T>G (p.Thr168=)
c.-98-17461T>G (n.-98-17461T>G)
n.5167T>G
n.5208T>G
 ClinVar dbSNP
17g.43067651A>GCA500146359BRCA1c.5028T>C (p.Thr1676=)
c.5031T>C (p.Thr1677=)
c.4905T>C (p.Thr1635=)
c.5025T>C (p.Thr1675=)
c.4953T>C (p.Thr1651=)
c.1719T>C (p.Thr573=)
c.1581T>C (p.Thr527=)
c.4143T>C (p.Thr1381=)
c.4908T>C (p.Thr1636=)
c.5097T>C (p.Thr1699=)
c.4890T>C (p.Thr1630=)
c.1593T>C (p.Thr531=)
c.5094T>C (p.Thr1698=)
c.1418T>C
c.1605T>C (p.Thr535=)
c.*4814T>C (n.*4814T>C)
n.184T>C
c.1344T>C (p.Thr448=)
c.5-3700T>C (n.5-3700T>C)
c.504T>C (p.Thr168=)
c.-98-17461T>C (n.-98-17461T>C)
n.5167T>C
n.5208T>C
 ClinVar dbSNP
17g.43067651A>TCA053716BRCA1c.5028T>A (p.Thr1676=)
c.5031T>A (p.Thr1677=)
c.4905T>A (p.Thr1635=)
c.5025T>A (p.Thr1675=)
c.4953T>A (p.Thr1651=)
c.1719T>A (p.Thr573=)
c.1581T>A (p.Thr527=)
c.4143T>A (p.Thr1381=)
c.4908T>A (p.Thr1636=)
c.5097T>A (p.Thr1699=)
c.4890T>A (p.Thr1630=)
c.1593T>A (p.Thr531=)
c.5094T>A (p.Thr1698=)
c.1418T>A
c.1605T>A (p.Thr535=)
c.*4814T>A (n.*4814T>A)
n.184T>A
c.1344T>A (p.Thr448=)
c.5-3700T>A (n.5-3700T>A)
c.504T>A (p.Thr168=)
c.-98-17461T>A (n.-98-17461T>A)
n.5167T>A
n.5208T>A
 ClinVar dbSNP ExAC gnomAD v2
17g.43067652_43067656delCA003156BRCA1c.5024_5028del (p.Leu1675Ter)
c.5027_5031del (p.Leu1676Ter)
c.4901_4905del (p.Leu1634Ter)
c.5021_5025del (p.Leu1674Ter)
c.4949_4953del (p.Leu1650Ter)
c.1715_1719del (p.Leu572Ter)
c.1577_1581del (p.Leu526Ter)
c.4139_4143del (p.Leu1380Ter)
c.4904_4908del (p.Leu1635Ter)
c.5093_5097del (p.Leu1698Ter)
c.4886_4890del (p.Leu1629Ter)
c.1589_1593del (p.Leu530Ter)
c.5090_5094del (p.Leu1697Ter)
c.1414_1418del
c.1601_1605del (p.Leu534Ter)
c.*4810_*4814del (n.*4810_*4814del)
n.180_184del
c.1340_1344del (p.Leu447Ter)
c.5-3704_5-3700del (n.5-3704_5-3700del)
c.500_504del (p.Leu167Ter)
c.-98-17465_-98-17461del (n.-98-17465_-98-17461del)
n.5163_5167del
n.5204_5208del
 ClinVar dbSNP
17g.43067652delCA658761226BRCA1c.5027del (p.Thr1676IlefsTer3)
c.5030del (p.Thr1677IlefsTer3)
c.4904del (p.Thr1635IlefsTer3)
c.5024del (p.Thr1675IlefsTer3)
c.4952del (p.Thr1651IlefsTer3)
c.1718del (p.Thr573IlefsTer3)
c.1580del (p.Thr527IlefsTer3)
c.4142del (p.Thr1381IlefsTer3)
c.4907del (p.Thr1636IlefsTer3)
c.5096del (p.Thr1699IlefsTer3)
c.4889del (p.Thr1630IlefsTer3)
c.1592del (p.Thr531IlefsTer3)
c.5093del (p.Thr1698IlefsTer3)
c.1417del
c.1604del (p.Thr535IlefsTer3)
c.*4813del (n.*4813del)
n.183del
c.1343del (p.Thr448IlefsTer3)
c.5-3701del (n.5-3701del)
c.503del (p.Thr168IlefsTer3)
c.-98-17462del (n.-98-17462del)
n.5166del
n.5207del
17g.43067652G>ACA10580501BRCA1c.5027C>T (p.Thr1676Ile)
c.5030C>T (p.Thr1677Ile)
c.4904C>T (p.Thr1635Ile)
c.5024C>T (p.Thr1675Ile)
c.4952C>T (p.Thr1651Ile)
c.1718C>T (p.Thr573Ile)
c.1580C>T (p.Thr527Ile)
c.4142C>T (p.Thr1381Ile)
c.4907C>T (p.Thr1636Ile)
c.5096C>T (p.Thr1699Ile)
c.4889C>T (p.Thr1630Ile)
c.1592C>T (p.Thr531Ile)
c.5093C>T (p.Thr1698Ile)
c.1417C>T
c.1604C>T (p.Thr535Ile)
c.*4813C>T (n.*4813C>T)
n.183C>T
c.1343C>T (p.Thr448Ile)
c.5-3701C>T (n.5-3701C>T)
c.503C>T (p.Thr168Ile)
c.-98-17462C>T (n.-98-17462C>T)
n.5166C>T
n.5207C>T
 ClinVar dbSNP
17g.43067652G>CCA10591455BRCA1c.5027C>G (p.Thr1676Ser)
c.5030C>G (p.Thr1677Ser)
c.4904C>G (p.Thr1635Ser)
c.5024C>G (p.Thr1675Ser)
c.4952C>G (p.Thr1651Ser)
c.1718C>G (p.Thr573Ser)
c.1580C>G (p.Thr527Ser)
c.4142C>G (p.Thr1381Ser)
c.4907C>G (p.Thr1636Ser)
c.5096C>G (p.Thr1699Ser)
c.4889C>G (p.Thr1630Ser)
c.1592C>G (p.Thr531Ser)
c.5093C>G (p.Thr1698Ser)
c.1417C>G
c.1604C>G (p.Thr535Ser)
c.*4813C>G (n.*4813C>G)
n.183C>G
c.1343C>G (p.Thr448Ser)
c.5-3701C>G (n.5-3701C>G)
c.503C>G (p.Thr168Ser)
c.-98-17462C>G (n.-98-17462C>G)
n.5166C>G
n.5207C>G
 ClinVar dbSNP
17g.43067652G=CA2260771367BRCA1c.5027C= (p.Thr1676=)
c.5030C= (p.Thr1677=)
c.4904C= (p.Thr1635=)
c.5024C= (p.Thr1675=)
c.4952C= (p.Thr1651=)
c.1718C= (p.Thr573=)
c.1580C= (p.Thr527=)
c.4142C= (p.Thr1381=)
c.4907C= (p.Thr1636=)
c.5096C= (p.Thr1699=)
c.4889C= (p.Thr1630=)
c.1592C= (p.Thr531=)
c.5093C= (p.Thr1698=)
c.1417C=
c.1604C= (p.Thr535=)
c.*4813C= (n.*4813C=)
n.183C=
c.1343C= (p.Thr448=)
c.5-3701C= (n.5-3701C=)
c.503C= (p.Thr168=)
c.-98-17462C= (n.-98-17462C=)
n.5166C=
n.5207C=
17g.43067652G>TCA10591456BRCA1c.5027C>A (p.Thr1676Asn)
c.5030C>A (p.Thr1677Asn)
c.4904C>A (p.Thr1635Asn)
c.5024C>A (p.Thr1675Asn)
c.4952C>A (p.Thr1651Asn)
c.1718C>A (p.Thr573Asn)
c.1580C>A (p.Thr527Asn)
c.4142C>A (p.Thr1381Asn)
c.4907C>A (p.Thr1636Asn)
c.5096C>A (p.Thr1699Asn)
c.4889C>A (p.Thr1630Asn)
c.1592C>A (p.Thr531Asn)
c.5093C>A (p.Thr1698Asn)
c.1417C>A
c.1604C>A (p.Thr535Asn)
c.*4813C>A (n.*4813C>A)
n.183C>A
c.1343C>A (p.Thr448Asn)
c.5-3701C>A (n.5-3701C>A)
c.503C>A (p.Thr168Asn)
c.-98-17462C>A (n.-98-17462C>A)
n.5166C>A
n.5207C>A
 ClinVar dbSNP
17g.43067653T>ACA10591457BRCA1c.5026A>T (p.Thr1676Ser)
c.5029A>T (p.Thr1677Ser)
c.4903A>T (p.Thr1635Ser)
c.5023A>T (p.Thr1675Ser)
c.4951A>T (p.Thr1651Ser)
c.1717A>T (p.Thr573Ser)
c.1579A>T (p.Thr527Ser)
c.4141A>T (p.Thr1381Ser)
c.4906A>T (p.Thr1636Ser)
c.5095A>T (p.Thr1699Ser)
c.4888A>T (p.Thr1630Ser)
c.1591A>T (p.Thr531Ser)
c.5092A>T (p.Thr1698Ser)
c.1416A>T
c.1603A>T (p.Thr535Ser)
c.*4812A>T (n.*4812A>T)
n.182A>T
c.1342A>T (p.Thr448Ser)
c.5-3702A>T (n.5-3702A>T)
c.502A>T (p.Thr168Ser)
c.-98-17463A>T (n.-98-17463A>T)
n.5165A>T
n.5206A>T
 ClinVar dbSNP
17g.43067653T>CCA10591458BRCA1c.5026A>G (p.Thr1676Ala)
c.5029A>G (p.Thr1677Ala)
c.4903A>G (p.Thr1635Ala)
c.5023A>G (p.Thr1675Ala)
c.4951A>G (p.Thr1651Ala)
c.1717A>G (p.Thr573Ala)
c.1579A>G (p.Thr527Ala)
c.4141A>G (p.Thr1381Ala)
c.4906A>G (p.Thr1636Ala)
c.5095A>G (p.Thr1699Ala)
c.4888A>G (p.Thr1630Ala)
c.1591A>G (p.Thr531Ala)
c.5092A>G (p.Thr1698Ala)
c.1416A>G
c.1603A>G (p.Thr535Ala)
c.*4812A>G (n.*4812A>G)
n.182A>G
c.1342A>G (p.Thr448Ala)
c.5-3702A>G (n.5-3702A>G)
c.502A>G (p.Thr168Ala)
c.-98-17463A>G (n.-98-17463A>G)
n.5165A>G
n.5206A>G
 ClinVar dbSNP
17g.43067653T>GCA10591459BRCA1c.5026A>C (p.Thr1676Pro)
c.5029A>C (p.Thr1677Pro)
c.4903A>C (p.Thr1635Pro)
c.5023A>C (p.Thr1675Pro)
c.4951A>C (p.Thr1651Pro)
c.1717A>C (p.Thr573Pro)
c.1579A>C (p.Thr527Pro)
c.4141A>C (p.Thr1381Pro)
c.4906A>C (p.Thr1636Pro)
c.5095A>C (p.Thr1699Pro)
c.4888A>C (p.Thr1630Pro)
c.1591A>C (p.Thr531Pro)
c.5092A>C (p.Thr1698Pro)
c.1416A>C
c.1603A>C (p.Thr535Pro)
c.*4812A>C (n.*4812A>C)
n.182A>C
c.1342A>C (p.Thr448Pro)
c.5-3702A>C (n.5-3702A>C)
c.502A>C (p.Thr168Pro)
c.-98-17463A>C (n.-98-17463A>C)
n.5165A>C
n.5206A>C
 ClinVar dbSNP
17g.43067653T=CA2260771368BRCA1c.5026A= (p.Thr1676=)
c.5029A= (p.Thr1677=)
c.4903A= (p.Thr1635=)
c.5023A= (p.Thr1675=)
c.4951A= (p.Thr1651=)
c.1717A= (p.Thr573=)
c.1579A= (p.Thr527=)
c.4141A= (p.Thr1381=)
c.4906A= (p.Thr1636=)
c.5095A= (p.Thr1699=)
c.4888A= (p.Thr1630=)
c.1591A= (p.Thr531=)
c.5092A= (p.Thr1698=)
c.1416A=
c.1603A= (p.Thr535=)
c.*4812A= (n.*4812A=)
n.182A=
c.1342A= (p.Thr448=)
c.5-3702A= (n.5-3702A=)
c.502A= (p.Thr168=)
c.-98-17463A= (n.-98-17463A=)
n.5165A=
n.5206A=
17g.43067654T>ACA10591460BRCA1c.5025A>T (p.Leu1675Phe)
c.5028A>T (p.Leu1676Phe)
c.4902A>T (p.Leu1634Phe)
c.5022A>T (p.Leu1674Phe)
c.4950A>T (p.Leu1650Phe)
c.1716A>T (p.Leu572Phe)
c.1578A>T (p.Leu526Phe)
c.4140A>T (p.Leu1380Phe)
c.4905A>T (p.Leu1635Phe)
c.5094A>T (p.Leu1698Phe)
c.4887A>T (p.Leu1629Phe)
c.1590A>T (p.Leu530Phe)
c.5091A>T (p.Leu1697Phe)
c.1415A>T
c.1602A>T (p.Leu534Phe)
c.*4811A>T (n.*4811A>T)
n.181A>T
c.1341A>T (p.Leu447Phe)
c.5-3703A>T (n.5-3703A>T)
c.501A>T (p.Leu167Phe)
c.-98-17464A>T (n.-98-17464A>T)
n.5164A>T
n.5205A>T
 ClinVar dbSNP
17g.43067654T>CCA500146361BRCA1c.5025A>G (p.Leu1675=)
c.5028A>G (p.Leu1676=)
c.4902A>G (p.Leu1634=)
c.5022A>G (p.Leu1674=)
c.4950A>G (p.Leu1650=)
c.1716A>G (p.Leu572=)
c.1578A>G (p.Leu526=)
c.4140A>G (p.Leu1380=)
c.4905A>G (p.Leu1635=)
c.5094A>G (p.Leu1698=)
c.4887A>G (p.Leu1629=)
c.1590A>G (p.Leu530=)
c.5091A>G (p.Leu1697=)
c.1415A>G
c.1602A>G (p.Leu534=)
c.*4811A>G (n.*4811A>G)
n.181A>G
c.1341A>G (p.Leu447=)
c.5-3703A>G (n.5-3703A>G)
c.501A>G (p.Leu167=)
c.-98-17464A>G (n.-98-17464A>G)
n.5164A>G
n.5205A>G
 ClinVar dbSNP
17g.43067654T>GCA10591461BRCA1c.5025A>C (p.Leu1675Phe)
c.5028A>C (p.Leu1676Phe)
c.4902A>C (p.Leu1634Phe)
c.5022A>C (p.Leu1674Phe)
c.4950A>C (p.Leu1650Phe)
c.1716A>C (p.Leu572Phe)
c.1578A>C (p.Leu526Phe)
c.4140A>C (p.Leu1380Phe)
c.4905A>C (p.Leu1635Phe)
c.5094A>C (p.Leu1698Phe)
c.4887A>C (p.Leu1629Phe)
c.1590A>C (p.Leu530Phe)
c.5091A>C (p.Leu1697Phe)
c.1415A>C
c.1602A>C (p.Leu534Phe)
c.*4811A>C (n.*4811A>C)
n.181A>C
c.1341A>C (p.Leu447Phe)
c.5-3703A>C (n.5-3703A>C)
c.501A>C (p.Leu167Phe)
c.-98-17464A>C (n.-98-17464A>C)
n.5164A>C
n.5205A>C
 ClinVar dbSNP
17g.43067654T=CA2260771369BRCA1c.5025A= (p.Leu1675=)
c.5028A= (p.Leu1676=)
c.4902A= (p.Leu1634=)
c.5022A= (p.Leu1674=)
c.4950A= (p.Leu1650=)
c.1716A= (p.Leu572=)
c.1578A= (p.Leu526=)
c.4140A= (p.Leu1380=)
c.4905A= (p.Leu1635=)
c.5094A= (p.Leu1698=)
c.4887A= (p.Leu1629=)
c.1590A= (p.Leu530=)
c.5091A= (p.Leu1697=)
c.1415A=
c.1602A= (p.Leu534=)
c.*4811A= (n.*4811A=)
n.181A=
c.1341A= (p.Leu447=)
c.5-3703A= (n.5-3703A=)
c.501A= (p.Leu167=)
c.-98-17464A= (n.-98-17464A=)
n.5164A=
n.5205A=
17g.43067654_43067656delinsTAACA2260771370BRCA1c.5023_5025delinsTTA (p.Leu1675=)
c.5026_5028delinsTTA (p.Leu1676=)
c.4900_4902delinsTTA (p.Leu1634=)
c.5020_5022delinsTTA (p.Leu1674=)
c.4948_4950delinsTTA (p.Leu1650=)
c.1714_1716delinsTTA (p.Leu572=)
c.1576_1578delinsTTA (p.Leu526=)
c.4138_4140delinsTTA (p.Leu1380=)
c.4903_4905delinsTTA (p.Leu1635=)
c.5092_5094delinsTTA (p.Leu1698=)
c.4885_4887delinsTTA (p.Leu1629=)
c.1588_1590delinsTTA (p.Leu530=)
c.5089_5091delinsTTA (p.Leu1697=)
c.1413_1415delinsTTA
c.1600_1602delinsTTA (p.Leu534=)
c.*4809_*4811delinsTTA (n.*4809_*4811delinsTTA)
n.179_181delinsTTA
c.1339_1341delinsTTA (p.Leu447=)
c.5-3705_5-3703delinsTTA (n.5-3705_5-3703delinsTTA)
c.499_501delinsTTA (p.Leu167=)
c.-98-17466_-98-17464delinsTTA (n.-98-17466_-98-17464delinsTTA)
n.5162_5164delinsTTA
n.5203_5205delinsTTA
17g.43067655A=CA2260771371BRCA1c.5024T= (p.Leu1675=)
c.5027T= (p.Leu1676=)
c.4901T= (p.Leu1634=)
c.5021T= (p.Leu1674=)
c.4949T= (p.Leu1650=)
c.1715T= (p.Leu572=)
c.1577T= (p.Leu526=)
c.4139T= (p.Leu1380=)
c.4904T= (p.Leu1635=)
c.5093T= (p.Leu1698=)
c.4886T= (p.Leu1629=)
c.1589T= (p.Leu530=)
c.5090T= (p.Leu1697=)
c.1414T=
c.1601T= (p.Leu534=)
c.*4810T= (n.*4810T=)
n.180T=
c.1340T= (p.Leu447=)
c.5-3704T= (n.5-3704T=)
c.500T= (p.Leu167=)
c.-98-17465T= (n.-98-17465T=)
n.5163T=
n.5204T=
17g.43067655A>CCA003160BRCA1c.5024T>G (p.Leu1675Ter)
c.5027T>G (p.Leu1676Ter)
c.4901T>G (p.Leu1634Ter)
c.5021T>G (p.Leu1674Ter)
c.4949T>G (p.Leu1650Ter)
c.1715T>G (p.Leu572Ter)
c.1577T>G (p.Leu526Ter)
c.4139T>G (p.Leu1380Ter)
c.4904T>G (p.Leu1635Ter)
c.5093T>G (p.Leu1698Ter)
c.4886T>G (p.Leu1629Ter)
c.1589T>G (p.Leu530Ter)
c.5090T>G (p.Leu1697Ter)
c.1414T>G
c.1601T>G (p.Leu534Ter)
c.*4810T>G (n.*4810T>G)
n.180T>G
c.1340T>G (p.Leu447Ter)
c.5-3704T>G (n.5-3704T>G)
c.500T>G (p.Leu167Ter)
c.-98-17465T>G (n.-98-17465T>G)
n.5163T>G
n.5204T>G
 ClinVar dbSNP
17g.43067655A>GCA10591462BRCA1c.5024T>C (p.Leu1675Ser)
c.5027T>C (p.Leu1676Ser)
c.4901T>C (p.Leu1634Ser)
c.5021T>C (p.Leu1674Ser)
c.4949T>C (p.Leu1650Ser)
c.1715T>C (p.Leu572Ser)
c.1577T>C (p.Leu526Ser)
c.4139T>C (p.Leu1380Ser)
c.4904T>C (p.Leu1635Ser)
c.5093T>C (p.Leu1698Ser)
c.4886T>C (p.Leu1629Ser)
c.1589T>C (p.Leu530Ser)
c.5090T>C (p.Leu1697Ser)
c.1414T>C
c.1601T>C (p.Leu534Ser)
c.*4810T>C (n.*4810T>C)
n.180T>C
c.1340T>C (p.Leu447Ser)
c.5-3704T>C (n.5-3704T>C)
c.500T>C (p.Leu167Ser)
c.-98-17465T>C (n.-98-17465T>C)
n.5163T>C
n.5204T>C
 ClinVar
17g.43067655A>TCA10589629BRCA1c.5024T>A (p.Leu1675Ter)
c.5027T>A (p.Leu1676Ter)
c.4901T>A (p.Leu1634Ter)
c.5021T>A (p.Leu1674Ter)
c.4949T>A (p.Leu1650Ter)
c.1715T>A (p.Leu572Ter)
c.1577T>A (p.Leu526Ter)
c.4139T>A (p.Leu1380Ter)
c.4904T>A (p.Leu1635Ter)
c.5093T>A (p.Leu1698Ter)
c.4886T>A (p.Leu1629Ter)
c.1589T>A (p.Leu530Ter)
c.5090T>A (p.Leu1697Ter)
c.1414T>A
c.1601T>A (p.Leu534Ter)
c.*4810T>A (n.*4810T>A)
n.180T>A
c.1340T>A (p.Leu447Ter)
c.5-3704T>A (n.5-3704T>A)
c.500T>A (p.Leu167Ter)
c.-98-17465T>A (n.-98-17465T>A)
n.5163T>A
n.5204T>A
 ClinVar dbSNP
17g.43067657dupCA327956BRCA1c.5024dup (p.Leu1675PhefsTer3)
c.5027dup (p.Leu1676PhefsTer3)
c.4901dup (p.Leu1634PhefsTer3)
c.5021dup (p.Leu1674PhefsTer3)
c.4949dup (p.Leu1650PhefsTer3)
c.1715dup (p.Leu572PhefsTer3)
c.1577dup (p.Leu526PhefsTer3)
c.4139dup (p.Leu1380PhefsTer3)
c.4904dup (p.Leu1635PhefsTer3)
c.5093dup (p.Leu1698PhefsTer3)
c.4886dup (p.Leu1629PhefsTer3)
c.1589dup (p.Leu530PhefsTer3)
c.5090dup (p.Leu1697PhefsTer3)
c.1414dup
c.1601dup (p.Leu534PhefsTer3)
c.*4810dup (n.*4810dup)
n.180dup
c.1340dup (p.Leu447PhefsTer3)
c.5-3704dup (n.5-3704dup)
c.500dup (p.Leu167PhefsTer3)
c.-98-17465dup (n.-98-17465dup)
n.5163dup
n.5204dup
 ClinVar dbSNP
17g.43067657delCA10589631BRCA1c.5024del (p.Leu1675Ter)
c.5027del (p.Leu1676Ter)
c.4901del (p.Leu1634Ter)
c.5021del (p.Leu1674Ter)
c.4949del (p.Leu1650Ter)
c.1715del (p.Leu572Ter)
c.1577del (p.Leu526Ter)
c.4139del (p.Leu1380Ter)
c.4904del (p.Leu1635Ter)
c.5093del (p.Leu1698Ter)
c.4886del (p.Leu1629Ter)
c.1589del (p.Leu530Ter)
c.5090del (p.Leu1697Ter)
c.1414del
c.1601del (p.Leu534Ter)
c.*4810del (n.*4810del)
n.180del
c.1340del (p.Leu447Ter)
c.5-3704del (n.5-3704del)
c.500del (p.Leu167Ter)
c.-98-17465del (n.-98-17465del)
n.5163del
n.5204del
 ClinVar dbSNP
17g.43067656_43067657delCA10589630BRCA1c.5023_5024del (p.Leu1675AsnfsTer2)
c.5026_5027del (p.Leu1676AsnfsTer2)
c.4900_4901del (p.Leu1634AsnfsTer2)
c.5020_5021del (p.Leu1674AsnfsTer2)
c.4948_4949del (p.Leu1650AsnfsTer2)
c.1714_1715del (p.Leu572AsnfsTer2)
c.1576_1577del (p.Leu526AsnfsTer2)
c.4138_4139del (p.Leu1380AsnfsTer2)
c.4903_4904del (p.Leu1635AsnfsTer2)
c.5092_5093del (p.Leu1698AsnfsTer2)
c.4885_4886del (p.Leu1629AsnfsTer2)
c.1588_1589del (p.Leu530AsnfsTer2)
c.5089_5090del (p.Leu1697AsnfsTer2)
c.1413_1414del
c.1600_1601del (p.Leu534AsnfsTer2)
c.*4809_*4810del (n.*4809_*4810del)
n.179_180del
c.1339_1340del (p.Leu447AsnfsTer2)
c.5-3705_5-3704del (n.5-3705_5-3704del)
c.499_500del (p.Leu167AsnfsTer2)
c.-98-17466_-98-17465del (n.-98-17466_-98-17465del)
n.5162_5163del
n.5203_5204del
 ClinVar dbSNP
17g.43067656A=CA2260771372BRCA1c.5023T= (p.Leu1675=)
c.5026T= (p.Leu1676=)
c.4900T= (p.Leu1634=)
c.5020T= (p.Leu1674=)
c.4948T= (p.Leu1650=)
c.1714T= (p.Leu572=)
c.1576T= (p.Leu526=)
c.4138T= (p.Leu1380=)
c.4903T= (p.Leu1635=)
c.5092T= (p.Leu1698=)
c.4885T= (p.Leu1629=)
c.1588T= (p.Leu530=)
c.5089T= (p.Leu1697=)
c.1413T=
c.1600T= (p.Leu534=)
c.*4809T= (n.*4809T=)
n.179T=
c.1339T= (p.Leu447=)
c.5-3705T= (n.5-3705T=)
c.499T= (p.Leu167=)
c.-98-17466T= (n.-98-17466T=)
n.5162T=
n.5203T=
17g.43067656A>CCA10591463BRCA1c.5023T>G (p.Leu1675Val)
c.5026T>G (p.Leu1676Val)
c.4900T>G (p.Leu1634Val)
c.5020T>G (p.Leu1674Val)
c.4948T>G (p.Leu1650Val)
c.1714T>G (p.Leu572Val)
c.1576T>G (p.Leu526Val)
c.4138T>G (p.Leu1380Val)
c.4903T>G (p.Leu1635Val)
c.5092T>G (p.Leu1698Val)
c.4885T>G (p.Leu1629Val)
c.1588T>G (p.Leu530Val)
c.5089T>G (p.Leu1697Val)
c.1413T>G
c.1600T>G (p.Leu534Val)
c.*4809T>G (n.*4809T>G)
n.179T>G
c.1339T>G (p.Leu447Val)
c.5-3705T>G (n.5-3705T>G)
c.499T>G (p.Leu167Val)
c.-98-17466T>G (n.-98-17466T>G)
n.5162T>G
n.5203T>G
 ClinVar dbSNP
17g.43067656A>GCA500146366BRCA1c.5023T>C (p.Leu1675=)
c.5026T>C (p.Leu1676=)
c.4900T>C (p.Leu1634=)
c.5020T>C (p.Leu1674=)
c.4948T>C (p.Leu1650=)
c.1714T>C (p.Leu572=)
c.1576T>C (p.Leu526=)
c.4138T>C (p.Leu1380=)
c.4903T>C (p.Leu1635=)
c.5092T>C (p.Leu1698=)
c.4885T>C (p.Leu1629=)
c.1588T>C (p.Leu530=)
c.5089T>C (p.Leu1697=)
c.1413T>C
c.1600T>C (p.Leu534=)
c.*4809T>C (n.*4809T>C)
n.179T>C
c.1339T>C (p.Leu447=)
c.5-3705T>C (n.5-3705T>C)
c.499T>C (p.Leu167=)
c.-98-17466T>C (n.-98-17466T>C)
n.5162T>C
n.5203T>C
 ClinVar dbSNP
17g.43067656A>TCA10591464BRCA1c.5023T>A (p.Leu1675Ile)
c.5026T>A (p.Leu1676Ile)
c.4900T>A (p.Leu1634Ile)
c.5020T>A (p.Leu1674Ile)
c.4948T>A (p.Leu1650Ile)
c.1714T>A (p.Leu572Ile)
c.1576T>A (p.Leu526Ile)
c.4138T>A (p.Leu1380Ile)
c.4903T>A (p.Leu1635Ile)
c.5092T>A (p.Leu1698Ile)
c.4885T>A (p.Leu1629Ile)
c.1588T>A (p.Leu530Ile)
c.5089T>A (p.Leu1697Ile)
c.1413T>A
c.1600T>A (p.Leu534Ile)
c.*4809T>A (n.*4809T>A)
n.179T>A
c.1339T>A (p.Leu447Ile)
c.5-3705T>A (n.5-3705T>A)
c.499T>A (p.Leu167Ile)
c.-98-17466T>A (n.-98-17466T>A)
n.5162T>A
n.5203T>A
 ClinVar dbSNP
17g.43067657A=CA2260771373BRCA1c.5022T= (p.Thr1674=)
c.5025T= (p.Thr1675=)
c.4899T= (p.Thr1633=)
c.5019T= (p.Thr1673=)
c.4947T= (p.Thr1649=)
c.1713T= (p.Thr571=)
c.1575T= (p.Thr525=)
c.4137T= (p.Thr1379=)
c.4902T= (p.Thr1634=)
c.5091T= (p.Thr1697=)
c.4884T= (p.Thr1628=)
c.1587T= (p.Thr529=)
c.5088T= (p.Thr1696=)
c.1412T=
c.1599T= (p.Thr533=)
c.*4808T= (n.*4808T=)
n.178T=
c.1338T= (p.Thr446=)
c.5-3706T= (n.5-3706T=)
c.498T= (p.Thr166=)
c.-98-17467T= (n.-98-17467T=)
n.5161T=
n.5202T=
17g.43067657A>CCA500146368BRCA1c.5022T>G (p.Thr1674=)
c.5025T>G (p.Thr1675=)
c.4899T>G (p.Thr1633=)
c.5019T>G (p.Thr1673=)
c.4947T>G (p.Thr1649=)
c.1713T>G (p.Thr571=)
c.1575T>G (p.Thr525=)
c.4137T>G (p.Thr1379=)
c.4902T>G (p.Thr1634=)
c.5091T>G (p.Thr1697=)
c.4884T>G (p.Thr1628=)
c.1587T>G (p.Thr529=)
c.5088T>G (p.Thr1696=)
c.1412T>G
c.1599T>G (p.Thr533=)
c.*4808T>G (n.*4808T>G)
n.178T>G
c.1338T>G (p.Thr446=)
c.5-3706T>G (n.5-3706T>G)
c.498T>G (p.Thr166=)
c.-98-17467T>G (n.-98-17467T>G)
n.5161T>G
n.5202T>G
 ClinVar
17g.43067657A>GCA10580502BRCA1c.5022T>C (p.Thr1674=)
c.5025T>C (p.Thr1675=)
c.4899T>C (p.Thr1633=)
c.5019T>C (p.Thr1673=)
c.4947T>C (p.Thr1649=)
c.1713T>C (p.Thr571=)
c.1575T>C (p.Thr525=)
c.4137T>C (p.Thr1379=)
c.4902T>C (p.Thr1634=)
c.5091T>C (p.Thr1697=)
c.4884T>C (p.Thr1628=)
c.1587T>C (p.Thr529=)
c.5088T>C (p.Thr1696=)
c.1412T>C
c.1599T>C (p.Thr533=)
c.*4808T>C (n.*4808T>C)
n.178T>C
c.1338T>C (p.Thr446=)
c.5-3706T>C (n.5-3706T>C)
c.498T>C (p.Thr166=)
c.-98-17467T>C (n.-98-17467T>C)
n.5161T>C
n.5202T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43067657A>TCA500146369BRCA1c.5022T>A (p.Thr1674=)
c.5025T>A (p.Thr1675=)
c.4899T>A (p.Thr1633=)
c.5019T>A (p.Thr1673=)
c.4947T>A (p.Thr1649=)
c.1713T>A (p.Thr571=)
c.1575T>A (p.Thr525=)
c.4137T>A (p.Thr1379=)
c.4902T>A (p.Thr1634=)
c.5091T>A (p.Thr1697=)
c.4884T>A (p.Thr1628=)
c.1587T>A (p.Thr529=)
c.5088T>A (p.Thr1696=)
c.1412T>A
c.1599T>A (p.Thr533=)
c.*4808T>A (n.*4808T>A)
n.178T>A
c.1338T>A (p.Thr446=)
c.5-3706T>A (n.5-3706T>A)
c.498T>A (p.Thr166=)
c.-98-17467T>A (n.-98-17467T>A)
n.5161T>A
n.5202T>A
 dbSNP
17g.43067657_43067659delCA2582342172BRCA1c.5020_5022del (p.Thr1674del)
c.5023_5025del (p.Thr1675del)
c.4897_4899del (p.Thr1633del)
c.5017_5019del (p.Thr1673del)
c.4945_4947del (p.Thr1649del)
c.1711_1713del (p.Thr571del)
c.1573_1575del (p.Thr525del)
c.4135_4137del (p.Thr1379del)
c.4900_4902del (p.Thr1634del)
c.5089_5091del (p.Thr1697del)
c.4882_4884del (p.Thr1628del)
c.1585_1587del (p.Thr529del)
c.5086_5088del (p.Thr1696del)
c.1410_1412del
c.1597_1599del (p.Thr533del)
c.*4806_*4808del (n.*4806_*4808del)
n.176_178del
c.1336_1338del (p.Thr446del)
c.5-3708_5-3706del (n.5-3708_5-3706del)
c.496_498del (p.Thr166del)
c.-98-17469_-98-17467del (n.-98-17469_-98-17467del)
n.5159_5161del
n.5200_5202del
 ClinVar
17g.43067658G>ACA053709BRCA1c.5021C>T (p.Thr1674Ile)
c.5024C>T (p.Thr1675Ile)
c.4898C>T (p.Thr1633Ile)
c.5018C>T (p.Thr1673Ile)
c.4946C>T (p.Thr1649Ile)
c.1712C>T (p.Thr571Ile)
c.1574C>T (p.Thr525Ile)
c.4136C>T (p.Thr1379Ile)
c.4901C>T (p.Thr1634Ile)
c.5090C>T (p.Thr1697Ile)
c.4883C>T (p.Thr1628Ile)
c.1586C>T (p.Thr529Ile)
c.5087C>T (p.Thr1696Ile)
c.1411C>T
c.1598C>T (p.Thr533Ile)
c.*4807C>T (n.*4807C>T)
n.177C>T
c.1337C>T (p.Thr446Ile)
c.5-3707C>T (n.5-3707C>T)
c.497C>T (p.Thr166Ile)
c.-98-17468C>T (n.-98-17468C>T)
n.5160C>T
n.5201C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43067658G>CCA10591465BRCA1c.5021C>G (p.Thr1674Ser)
c.5024C>G (p.Thr1675Ser)
c.4898C>G (p.Thr1633Ser)
c.5018C>G (p.Thr1673Ser)
c.4946C>G (p.Thr1649Ser)
c.1712C>G (p.Thr571Ser)
c.1574C>G (p.Thr525Ser)
c.4136C>G (p.Thr1379Ser)
c.4901C>G (p.Thr1634Ser)
c.5090C>G (p.Thr1697Ser)
c.4883C>G (p.Thr1628Ser)
c.1586C>G (p.Thr529Ser)
c.5087C>G (p.Thr1696Ser)
c.1411C>G
c.1598C>G (p.Thr533Ser)
c.*4807C>G (n.*4807C>G)
n.177C>G
c.1337C>G (p.Thr446Ser)
c.5-3707C>G (n.5-3707C>G)
c.497C>G (p.Thr166Ser)
c.-98-17468C>G (n.-98-17468C>G)
n.5160C>G
n.5201C>G
 ClinVar dbSNP
17g.43067658G=CA2260771374BRCA1c.5021C= (p.Thr1674=)
c.5024C= (p.Thr1675=)
c.4898C= (p.Thr1633=)
c.5018C= (p.Thr1673=)
c.4946C= (p.Thr1649=)
c.1712C= (p.Thr571=)
c.1574C= (p.Thr525=)
c.4136C= (p.Thr1379=)
c.4901C= (p.Thr1634=)
c.5090C= (p.Thr1697=)
c.4883C= (p.Thr1628=)
c.1586C= (p.Thr529=)
c.5087C= (p.Thr1696=)
c.1411C=
c.1598C= (p.Thr533=)
c.*4807C= (n.*4807C=)
n.177C=
c.1337C= (p.Thr446=)
c.5-3707C= (n.5-3707C=)
c.497C= (p.Thr166=)
c.-98-17468C= (n.-98-17468C=)
n.5160C=
n.5201C=
17g.43067658G>TCA10591466BRCA1c.5021C>A (p.Thr1674Asn)
c.5024C>A (p.Thr1675Asn)
c.4898C>A (p.Thr1633Asn)
c.5018C>A (p.Thr1673Asn)
c.4946C>A (p.Thr1649Asn)
c.1712C>A (p.Thr571Asn)
c.1574C>A (p.Thr525Asn)
c.4136C>A (p.Thr1379Asn)
c.4901C>A (p.Thr1634Asn)
c.5090C>A (p.Thr1697Asn)
c.4883C>A (p.Thr1628Asn)
c.1586C>A (p.Thr529Asn)
c.5087C>A (p.Thr1696Asn)
c.1411C>A
c.1598C>A (p.Thr533Asn)
c.*4807C>A (n.*4807C>A)
n.177C>A
c.1337C>A (p.Thr446Asn)
c.5-3707C>A (n.5-3707C>A)
c.497C>A (p.Thr166Asn)
c.-98-17468C>A (n.-98-17468C>A)
n.5160C>A
n.5201C>A
 ClinVar dbSNP
17g.43067659T>ACA10591467BRCA1c.5020A>T (p.Thr1674Ser)
c.5023A>T (p.Thr1675Ser)
c.4897A>T (p.Thr1633Ser)
c.5017A>T (p.Thr1673Ser)
c.4945A>T (p.Thr1649Ser)
c.1711A>T (p.Thr571Ser)
c.1573A>T (p.Thr525Ser)
c.4135A>T (p.Thr1379Ser)
c.4900A>T (p.Thr1634Ser)
c.5089A>T (p.Thr1697Ser)
c.4882A>T (p.Thr1628Ser)
c.1585A>T (p.Thr529Ser)
c.5086A>T (p.Thr1696Ser)
c.1410A>T
c.1597A>T (p.Thr533Ser)
c.*4806A>T (n.*4806A>T)
n.176A>T
c.1336A>T (p.Thr446Ser)
c.5-3708A>T (n.5-3708A>T)
c.496A>T (p.Thr166Ser)
c.-98-17469A>T (n.-98-17469A>T)
n.5159A>T
n.5200A>T
 ClinVar dbSNP gnomAD v4
17g.43067659T>CCA10591468BRCA1c.5020A>G (p.Thr1674Ala)
c.5023A>G (p.Thr1675Ala)
c.4897A>G (p.Thr1633Ala)
c.5017A>G (p.Thr1673Ala)
c.4945A>G (p.Thr1649Ala)
c.1711A>G (p.Thr571Ala)
c.1573A>G (p.Thr525Ala)
c.4135A>G (p.Thr1379Ala)
c.4900A>G (p.Thr1634Ala)
c.5089A>G (p.Thr1697Ala)
c.4882A>G (p.Thr1628Ala)
c.1585A>G (p.Thr529Ala)
c.5086A>G (p.Thr1696Ala)
c.1410A>G
c.1597A>G (p.Thr533Ala)
c.*4806A>G (n.*4806A>G)
n.176A>G
c.1336A>G (p.Thr446Ala)
c.5-3708A>G (n.5-3708A>G)
c.496A>G (p.Thr166Ala)
c.-98-17469A>G (n.-98-17469A>G)
n.5159A>G
n.5200A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
17g.43067659T>GCA10591469BRCA1c.5020A>C (p.Thr1674Pro)
c.5023A>C (p.Thr1675Pro)
c.4897A>C (p.Thr1633Pro)
c.5017A>C (p.Thr1673Pro)
c.4945A>C (p.Thr1649Pro)
c.1711A>C (p.Thr571Pro)
c.1573A>C (p.Thr525Pro)
c.4135A>C (p.Thr1379Pro)
c.4900A>C (p.Thr1634Pro)
c.5089A>C (p.Thr1697Pro)
c.4882A>C (p.Thr1628Pro)
c.1585A>C (p.Thr529Pro)
c.5086A>C (p.Thr1696Pro)
c.1410A>C
c.1597A>C (p.Thr533Pro)
c.*4806A>C (n.*4806A>C)
n.176A>C
c.1336A>C (p.Thr446Pro)
c.5-3708A>C (n.5-3708A>C)
c.496A>C (p.Thr166Pro)
c.-98-17469A>C (n.-98-17469A>C)
n.5159A>C
n.5200A>C
 ClinVar dbSNP
17g.43067659T=CA2260771375BRCA1c.5020A= (p.Thr1674=)
c.5023A= (p.Thr1675=)
c.4897A= (p.Thr1633=)
c.5017A= (p.Thr1673=)
c.4945A= (p.Thr1649=)
c.1711A= (p.Thr571=)
c.1573A= (p.Thr525=)
c.4135A= (p.Thr1379=)
c.4900A= (p.Thr1634=)
c.5089A= (p.Thr1697=)
c.4882A= (p.Thr1628=)
c.1585A= (p.Thr529=)
c.5086A= (p.Thr1696=)
c.1410A=
c.1597A= (p.Thr533=)
c.*4806A= (n.*4806A=)
n.176A=
c.1336A= (p.Thr446=)
c.5-3708A= (n.5-3708A=)
c.496A= (p.Thr166=)
c.-98-17469A= (n.-98-17469A=)
n.5159A=
n.5200A=
17g.43067660G>ACA003155BRCA1c.5019C>T (p.Ile1673=)
c.5022C>T (p.Ile1674=)
c.4896C>T (p.Ile1632=)
c.5016C>T (p.Ile1672=)
c.4944C>T (p.Ile1648=)
c.1710C>T (p.Ile570=)
c.1572C>T (p.Ile524=)
c.4134C>T (p.Ile1378=)
c.4899C>T (p.Ile1633=)
c.5088C>T (p.Ile1696=)
c.4881C>T (p.Ile1627=)
c.1584C>T (p.Ile528=)
c.5085C>T (p.Ile1695=)
c.1409C>T
c.1596C>T (p.Ile532=)
c.*4805C>T (n.*4805C>T)
n.175C>T
c.1335C>T (p.Ile445=)
c.5-3709C>T (n.5-3709C>T)
c.495C>T (p.Ile165=)
c.-98-17470C>T (n.-98-17470C>T)
n.5158C>T
n.5199C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43067660G>CCA10591470BRCA1c.5019C>G (p.Ile1673Met)
c.5022C>G (p.Ile1674Met)
c.4896C>G (p.Ile1632Met)
c.5016C>G (p.Ile1672Met)
c.4944C>G (p.Ile1648Met)
c.1710C>G (p.Ile570Met)
c.1572C>G (p.Ile524Met)
c.4134C>G (p.Ile1378Met)
c.4899C>G (p.Ile1633Met)
c.5088C>G (p.Ile1696Met)
c.4881C>G (p.Ile1627Met)
c.1584C>G (p.Ile528Met)
c.5085C>G (p.Ile1695Met)
c.1409C>G
c.1596C>G (p.Ile532Met)
c.*4805C>G (n.*4805C>G)
n.175C>G
c.1335C>G (p.Ile445Met)
c.5-3709C>G (n.5-3709C>G)
c.495C>G (p.Ile165Met)
c.-98-17470C>G (n.-98-17470C>G)
n.5158C>G
n.5199C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43067660G=CA2260771376BRCA1c.5019C= (p.Ile1673=)
c.5022C= (p.Ile1674=)
c.4896C= (p.Ile1632=)
c.5016C= (p.Ile1672=)
c.4944C= (p.Ile1648=)
c.1710C= (p.Ile570=)
c.1572C= (p.Ile524=)
c.4134C= (p.Ile1378=)
c.4899C= (p.Ile1633=)
c.5088C= (p.Ile1696=)
c.4881C= (p.Ile1627=)
c.1584C= (p.Ile528=)
c.5085C= (p.Ile1695=)
c.1409C=
c.1596C= (p.Ile532=)
c.*4805C= (n.*4805C=)
n.175C=
c.1335C= (p.Ile445=)
c.5-3709C= (n.5-3709C=)
c.495C= (p.Ile165=)
c.-98-17470C= (n.-98-17470C=)
n.5158C=
n.5199C=
17g.43067660G>TCA500146370BRCA1c.5019C>A (p.Ile1673=)
c.5022C>A (p.Ile1674=)
c.4896C>A (p.Ile1632=)
c.5016C>A (p.Ile1672=)
c.4944C>A (p.Ile1648=)
c.1710C>A (p.Ile570=)
c.1572C>A (p.Ile524=)
c.4134C>A (p.Ile1378=)
c.4899C>A (p.Ile1633=)
c.5088C>A (p.Ile1696=)
c.4881C>A (p.Ile1627=)
c.1584C>A (p.Ile528=)
c.5085C>A (p.Ile1695=)
c.1409C>A
c.1596C>A (p.Ile532=)
c.*4805C>A (n.*4805C>A)
n.175C>A
c.1335C>A (p.Ile445=)
c.5-3709C>A (n.5-3709C>A)
c.495C>A (p.Ile165=)
c.-98-17470C>A (n.-98-17470C>A)
n.5158C>A
n.5199C>A
17g.43067661A=CA2260771377BRCA1c.5018T= (p.Ile1673=)
c.5021T= (p.Ile1674=)
c.4895T= (p.Ile1632=)
c.5015T= (p.Ile1672=)
c.4943T= (p.Ile1648=)
c.1709T= (p.Ile570=)
c.1571T= (p.Ile524=)
c.4133T= (p.Ile1378=)
c.4898T= (p.Ile1633=)
c.5087T= (p.Ile1696=)
c.4880T= (p.Ile1627=)
c.1583T= (p.Ile528=)
c.5084T= (p.Ile1695=)
c.1408T=
c.1595T= (p.Ile532=)
c.*4804T= (n.*4804T=)
n.174T=
c.1334T= (p.Ile445=)
c.5-3710T= (n.5-3710T=)
c.494T= (p.Ile165=)
c.-98-17471T= (n.-98-17471T=)
n.5157T=
n.5198T=
17g.43067661A>CCA10591471BRCA1c.5018T>G (p.Ile1673Ser)
c.5021T>G (p.Ile1674Ser)
c.4895T>G (p.Ile1632Ser)
c.5015T>G (p.Ile1672Ser)
c.4943T>G (p.Ile1648Ser)
c.1709T>G (p.Ile570Ser)
c.1571T>G (p.Ile524Ser)
c.4133T>G (p.Ile1378Ser)
c.4898T>G (p.Ile1633Ser)
c.5087T>G (p.Ile1696Ser)
c.4880T>G (p.Ile1627Ser)
c.1583T>G (p.Ile528Ser)
c.5084T>G (p.Ile1695Ser)
c.1408T>G
c.1595T>G (p.Ile532Ser)
c.*4804T>G (n.*4804T>G)
n.174T>G
c.1334T>G (p.Ile445Ser)
c.5-3710T>G (n.5-3710T>G)
c.494T>G (p.Ile165Ser)
c.-98-17471T>G (n.-98-17471T>G)
n.5157T>G
n.5198T>G
17g.43067661A>GCA10591472BRCA1c.5018T>C (p.Ile1673Thr)
c.5021T>C (p.Ile1674Thr)
c.4895T>C (p.Ile1632Thr)
c.5015T>C (p.Ile1672Thr)
c.4943T>C (p.Ile1648Thr)
c.1709T>C (p.Ile570Thr)
c.1571T>C (p.Ile524Thr)
c.4133T>C (p.Ile1378Thr)
c.4898T>C (p.Ile1633Thr)
c.5087T>C (p.Ile1696Thr)
c.4880T>C (p.Ile1627Thr)
c.1583T>C (p.Ile528Thr)
c.5084T>C (p.Ile1695Thr)
c.1408T>C
c.1595T>C (p.Ile532Thr)
c.*4804T>C (n.*4804T>C)
n.174T>C
c.1334T>C (p.Ile445Thr)
c.5-3710T>C (n.5-3710T>C)
c.494T>C (p.Ile165Thr)
c.-98-17471T>C (n.-98-17471T>C)
n.5157T>C
n.5198T>C
 ClinVar dbSNP
17g.43067661A>TCA10591473BRCA1c.5018T>A (p.Ile1673Asn)
c.5021T>A (p.Ile1674Asn)
c.4895T>A (p.Ile1632Asn)
c.5015T>A (p.Ile1672Asn)
c.4943T>A (p.Ile1648Asn)
c.1709T>A (p.Ile570Asn)
c.1571T>A (p.Ile524Asn)
c.4133T>A (p.Ile1378Asn)
c.4898T>A (p.Ile1633Asn)
c.5087T>A (p.Ile1696Asn)
c.4880T>A (p.Ile1627Asn)
c.1583T>A (p.Ile528Asn)
c.5084T>A (p.Ile1695Asn)
c.1408T>A
c.1595T>A (p.Ile532Asn)
c.*4804T>A (n.*4804T>A)
n.174T>A
c.1334T>A (p.Ile445Asn)
c.5-3710T>A (n.5-3710T>A)
c.494T>A (p.Ile165Asn)
c.-98-17471T>A (n.-98-17471T>A)
n.5157T>A
n.5198T>A
 dbSNP
17g.43067661dupCA658824726BRCA1c.5018dup (p.Thr1674HisfsTer4)
c.5021dup (p.Thr1675HisfsTer4)
c.4895dup (p.Thr1633HisfsTer4)
c.5015dup (p.Thr1673HisfsTer4)
c.4943dup (p.Thr1649HisfsTer4)
c.1709dup (p.Thr571HisfsTer4)
c.1571dup (p.Thr525HisfsTer4)
c.4133dup (p.Thr1379HisfsTer4)
c.4898dup (p.Thr1634HisfsTer4)
c.5087dup (p.Thr1697HisfsTer4)
c.4880dup (p.Thr1628HisfsTer4)
c.1583dup (p.Thr529HisfsTer4)
c.5084dup (p.Thr1696HisfsTer4)
c.1408dup
c.1595dup (p.Thr533HisfsTer4)
c.*4804dup (n.*4804dup)
n.174dup
c.1334dup (p.Thr446HisfsTer4)
c.5-3710dup (n.5-3710dup)
c.494dup (p.Thr166HisfsTer4)
c.-98-17471dup (n.-98-17471dup)
n.5157dup
n.5198dup
 ClinVar dbSNP
17g.43067662T>ACA10591474BRCA1c.5017A>T (p.Ile1673Phe)
c.5020A>T (p.Ile1674Phe)
c.4894A>T (p.Ile1632Phe)
c.5014A>T (p.Ile1672Phe)
c.4942A>T (p.Ile1648Phe)
c.1708A>T (p.Ile570Phe)
c.1570A>T (p.Ile524Phe)
c.4132A>T (p.Ile1378Phe)
c.4897A>T (p.Ile1633Phe)
c.5086A>T (p.Ile1696Phe)
c.4879A>T (p.Ile1627Phe)
c.1582A>T (p.Ile528Phe)
c.5083A>T (p.Ile1695Phe)
c.1407A>T
c.1594A>T (p.Ile532Phe)
c.*4803A>T (n.*4803A>T)
n.173A>T
c.1333A>T (p.Ile445Phe)
c.5-3711A>T (n.5-3711A>T)
c.493A>T (p.Ile165Phe)
c.-98-17472A>T (n.-98-17472A>T)
n.5156A>T
n.5197A>T
 dbSNP COSMIC COSMIC
17g.43067662T>CCA10591475BRCA1c.5017A>G (p.Ile1673Val)
c.5020A>G (p.Ile1674Val)
c.4894A>G (p.Ile1632Val)
c.5014A>G (p.Ile1672Val)
c.4942A>G (p.Ile1648Val)
c.1708A>G (p.Ile570Val)
c.1570A>G (p.Ile524Val)
c.4132A>G (p.Ile1378Val)
c.4897A>G (p.Ile1633Val)
c.5086A>G (p.Ile1696Val)
c.4879A>G (p.Ile1627Val)
c.1582A>G (p.Ile528Val)
c.5083A>G (p.Ile1695Val)
c.1407A>G
c.1594A>G (p.Ile532Val)
c.*4803A>G (n.*4803A>G)
n.173A>G
c.1333A>G (p.Ile445Val)
c.5-3711A>G (n.5-3711A>G)
c.493A>G (p.Ile165Val)
c.-98-17472A>G (n.-98-17472A>G)
n.5156A>G
n.5197A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43067662T>GCA10591476BRCA1c.5017A>C (p.Ile1673Leu)
c.5020A>C (p.Ile1674Leu)
c.4894A>C (p.Ile1632Leu)
c.5014A>C (p.Ile1672Leu)
c.4942A>C (p.Ile1648Leu)
c.1708A>C (p.Ile570Leu)
c.1570A>C (p.Ile524Leu)
c.4132A>C (p.Ile1378Leu)
c.4897A>C (p.Ile1633Leu)
c.5086A>C (p.Ile1696Leu)
c.4879A>C (p.Ile1627Leu)
c.1582A>C (p.Ile528Leu)
c.5083A>C (p.Ile1695Leu)
c.1407A>C
c.1594A>C (p.Ile532Leu)
c.*4803A>C (n.*4803A>C)
n.173A>C
c.1333A>C (p.Ile445Leu)
c.5-3711A>C (n.5-3711A>C)
c.493A>C (p.Ile165Leu)
c.-98-17472A>C (n.-98-17472A>C)
n.5156A>C
n.5197A>C
 ClinVar dbSNP
17g.43067662T=CA2260771378BRCA1c.5017A= (p.Ile1673=)
c.5020A= (p.Ile1674=)
c.4894A= (p.Ile1632=)
c.5014A= (p.Ile1672=)
c.4942A= (p.Ile1648=)
c.1708A= (p.Ile570=)
c.1570A= (p.Ile524=)
c.4132A= (p.Ile1378=)
c.4897A= (p.Ile1633=)
c.5086A= (p.Ile1696=)
c.4879A= (p.Ile1627=)
c.1582A= (p.Ile528=)
c.5083A= (p.Ile1695=)
c.1407A=
c.1594A= (p.Ile532=)
c.*4803A= (n.*4803A=)
n.173A=
c.1333A= (p.Ile445=)
c.5-3711A= (n.5-3711A=)
c.493A= (p.Ile165=)
c.-98-17472A= (n.-98-17472A=)
n.5156A=
n.5197A=
17g.43067662_43067663delinsTGCA2260771379BRCA1c.5016_5017delinsCA (p.His1672=)
c.5019_5020delinsCA (p.His1673=)
c.4893_4894delinsCA (p.His1631=)
c.5013_5014delinsCA (p.His1671=)
c.4941_4942delinsCA (p.His1647=)
c.1707_1708delinsCA (p.His569=)
c.1569_1570delinsCA (p.His523=)
c.4131_4132delinsCA (p.His1377=)
c.4896_4897delinsCA (p.His1632=)
c.5085_5086delinsCA (p.His1695=)
c.4878_4879delinsCA (p.His1626=)
c.1581_1582delinsCA (p.His527=)
c.5082_5083delinsCA (p.His1694=)
c.1406_1407delinsCA
c.1593_1594delinsCA (p.His531=)
c.*4802_*4803delinsCA (n.*4802_*4803delinsCA)
n.172_173delinsCA
c.1332_1333delinsCA (p.His444=)
c.5-3712_5-3711delinsCA (n.5-3712_5-3711delinsCA)
c.492_493delinsCA (p.His164=)
c.-98-17473_-98-17472delinsCA (n.-98-17473_-98-17472delinsCA)
n.5155_5156delinsCA
n.5196_5197delinsCA
17g.43067662_43067665delinsTGTGCA2260771380BRCA1c.5014_5017delinsCACA (p.His1672=)
c.5017_5020delinsCACA (p.His1673=)
c.4891_4894delinsCACA (p.His1631=)
c.5011_5014delinsCACA (p.His1671=)
c.4939_4942delinsCACA (p.His1647=)
c.1705_1708delinsCACA (p.His569=)
c.1567_1570delinsCACA (p.His523=)
c.4129_4132delinsCACA (p.His1377=)
c.4894_4897delinsCACA (p.His1632=)
c.5083_5086delinsCACA (p.His1695=)
c.4876_4879delinsCACA (p.His1626=)
c.1579_1582delinsCACA (p.His527=)
c.5080_5083delinsCACA (p.His1694=)
c.1404_1407delinsCACA
c.1591_1594delinsCACA (p.His531=)
c.*4800_*4803delinsCACA (n.*4800_*4803delinsCACA)
n.170_173delinsCACA
c.1330_1333delinsCACA (p.His444=)
c.5-3714_5-3711delinsCACA (n.5-3714_5-3711delinsCACA)
c.490_493delinsCACA (p.His164=)
c.-98-17475_-98-17472delinsCACA (n.-98-17475_-98-17472delinsCACA)
n.5153_5156delinsCACA
n.5194_5197delinsCACA
17g.43067663delCA10589632BRCA1c.5016del (p.His1672GlnfsTer4)
c.5019del (p.His1673GlnfsTer4)
c.4893del (p.His1631GlnfsTer4)
c.5013del (p.His1671GlnfsTer4)
c.4941del (p.His1647GlnfsTer4)
c.1707del (p.His569GlnfsTer4)
c.1569del (p.His523GlnfsTer4)
c.4131del (p.His1377GlnfsTer4)
c.4896del (p.His1632GlnfsTer4)
c.5085del (p.His1695GlnfsTer4)
c.4878del (p.His1626GlnfsTer4)
c.1581del (p.His527GlnfsTer4)
c.5082del (p.His1694GlnfsTer4)
c.1406del
c.1593del (p.His531GlnfsTer4)
c.*4802del (n.*4802del)
n.172del
c.1332del (p.His444GlnfsTer4)
c.5-3712del (n.5-3712del)
c.492del (p.His164GlnfsTer4)
c.-98-17473del (n.-98-17473del)
n.5155del
n.5196del
 ClinVar dbSNP
17g.43067663G>ACA500146372BRCA1c.5016C>T (p.His1672=)
c.5019C>T (p.His1673=)
c.4893C>T (p.His1631=)
c.5013C>T (p.His1671=)
c.4941C>T (p.His1647=)
c.1707C>T (p.His569=)
c.1569C>T (p.His523=)
c.4131C>T (p.His1377=)
c.4896C>T (p.His1632=)
c.5085C>T (p.His1695=)
c.4878C>T (p.His1626=)
c.1581C>T (p.His527=)
c.5082C>T (p.His1694=)
c.1406C>T
c.1593C>T (p.His531=)
c.*4802C>T (n.*4802C>T)
n.172C>T
c.1332C>T (p.His444=)
c.5-3712C>T (n.5-3712C>T)
c.492C>T (p.His164=)
c.-98-17473C>T (n.-98-17473C>T)
n.5155C>T
n.5196C>T
 ClinVar dbSNP
17g.43067663G>CCA10591477BRCA1c.5016C>G (p.His1672Gln)
c.5019C>G (p.His1673Gln)
c.4893C>G (p.His1631Gln)
c.5013C>G (p.His1671Gln)
c.4941C>G (p.His1647Gln)
c.1707C>G (p.His569Gln)
c.1569C>G (p.His523Gln)
c.4131C>G (p.His1377Gln)
c.4896C>G (p.His1632Gln)
c.5085C>G (p.His1695Gln)
c.4878C>G (p.His1626Gln)
c.1581C>G (p.His527Gln)
c.5082C>G (p.His1694Gln)
c.1406C>G
c.1593C>G (p.His531Gln)
c.*4802C>G (n.*4802C>G)
n.172C>G
c.1332C>G (p.His444Gln)
c.5-3712C>G (n.5-3712C>G)
c.492C>G (p.His164Gln)
c.-98-17473C>G (n.-98-17473C>G)
n.5155C>G
n.5196C>G
 ClinVar dbSNP
17g.43067663G=CA2260771381BRCA1c.5016C= (p.His1672=)
c.5019C= (p.His1673=)
c.4893C= (p.His1631=)
c.5013C= (p.His1671=)
c.4941C= (p.His1647=)
c.1707C= (p.His569=)
c.1569C= (p.His523=)
c.4131C= (p.His1377=)
c.4896C= (p.His1632=)
c.5085C= (p.His1695=)
c.4878C= (p.His1626=)
c.1581C= (p.His527=)
c.5082C= (p.His1694=)
c.1406C=
c.1593C= (p.His531=)
c.*4802C= (n.*4802C=)
n.172C=
c.1332C= (p.His444=)
c.5-3712C= (n.5-3712C=)
c.492C= (p.His164=)
c.-98-17473C= (n.-98-17473C=)
n.5155C=
n.5196C=
17g.43067663G>TCA10591478BRCA1c.5016C>A (p.His1672Gln)
c.5019C>A (p.His1673Gln)
c.4893C>A (p.His1631Gln)
c.5013C>A (p.His1671Gln)
c.4941C>A (p.His1647Gln)
c.1707C>A (p.His569Gln)
c.1569C>A (p.His523Gln)
c.4131C>A (p.His1377Gln)
c.4896C>A (p.His1632Gln)
c.5085C>A (p.His1695Gln)
c.4878C>A (p.His1626Gln)
c.1581C>A (p.His527Gln)
c.5082C>A (p.His1694Gln)
c.1406C>A
c.1593C>A (p.His531Gln)
c.*4802C>A (n.*4802C>A)
n.172C>A
c.1332C>A (p.His444Gln)
c.5-3712C>A (n.5-3712C>A)
c.492C>A (p.His164Gln)
c.-98-17473C>A (n.-98-17473C>A)
n.5155C>A
n.5196C>A
 ClinVar dbSNP
17g.43067666_43067668delCA003154BRCA1c.5014_5016del (p.His1672del)
c.5017_5019del (p.His1673del)
c.4891_4893del (p.His1631del)
c.5011_5013del (p.His1671del)
c.4939_4941del (p.His1647del)
c.1705_1707del (p.His569del)
c.1567_1569del (p.His523del)
c.4129_4131del (p.His1377del)
c.4894_4896del (p.His1632del)
c.5083_5085del (p.His1695del)
c.4876_4878del (p.His1626del)
c.1579_1581del (p.His527del)
c.5080_5082del (p.His1694del)
c.1404_1406del
c.1591_1593del (p.His531del)
c.*4800_*4802del (n.*4800_*4802del)
n.170_172del
c.1330_1332del (p.His444del)
c.5-3714_5-3712del (n.5-3714_5-3712del)
c.490_492del (p.His164del)
c.-98-17475_-98-17473del (n.-98-17475_-98-17473del)
n.5153_5155del
n.5194_5196del
 ClinVar dbSNP
17g.43067664T>ACA10591479BRCA1c.5015A>T (p.His1672Leu)
c.5018A>T (p.His1673Leu)
c.4892A>T (p.His1631Leu)
c.5012A>T (p.His1671Leu)
c.4940A>T (p.His1647Leu)
c.1706A>T (p.His569Leu)
c.1568A>T (p.His523Leu)
c.4130A>T (p.His1377Leu)
c.4895A>T (p.His1632Leu)
c.5084A>T (p.His1695Leu)
c.4877A>T (p.His1626Leu)
c.1580A>T (p.His527Leu)
c.5081A>T (p.His1694Leu)
c.1405A>T
c.1592A>T (p.His531Leu)
c.*4801A>T (n.*4801A>T)
n.171A>T
c.1331A>T (p.His444Leu)
c.5-3713A>T (n.5-3713A>T)
c.491A>T (p.His164Leu)
c.-98-17474A>T (n.-98-17474A>T)
n.5154A>T
n.5195A>T
 ClinVar dbSNP
17g.43067664T>CCA10591480BRCA1c.5015A>G (p.His1672Arg)
c.5018A>G (p.His1673Arg)
c.4892A>G (p.His1631Arg)
c.5012A>G (p.His1671Arg)
c.4940A>G (p.His1647Arg)
c.1706A>G (p.His569Arg)
c.1568A>G (p.His523Arg)
c.4130A>G (p.His1377Arg)
c.4895A>G (p.His1632Arg)
c.5084A>G (p.His1695Arg)
c.4877A>G (p.His1626Arg)
c.1580A>G (p.His527Arg)
c.5081A>G (p.His1694Arg)
c.1405A>G
c.1592A>G (p.His531Arg)
c.*4801A>G (n.*4801A>G)
n.171A>G
c.1331A>G (p.His444Arg)
c.5-3713A>G (n.5-3713A>G)
c.491A>G (p.His164Arg)
c.-98-17474A>G (n.-98-17474A>G)
n.5154A>G
n.5195A>G
 ClinVar dbSNP
17g.43067664T>GCA10591481BRCA1c.5015A>C (p.His1672Pro)
c.5018A>C (p.His1673Pro)
c.4892A>C (p.His1631Pro)
c.5012A>C (p.His1671Pro)
c.4940A>C (p.His1647Pro)
c.1706A>C (p.His569Pro)
c.1568A>C (p.His523Pro)
c.4130A>C (p.His1377Pro)
c.4895A>C (p.His1632Pro)
c.5084A>C (p.His1695Pro)
c.4877A>C (p.His1626Pro)
c.1580A>C (p.His527Pro)
c.5081A>C (p.His1694Pro)
c.1405A>C
c.1592A>C (p.His531Pro)
c.*4801A>C (n.*4801A>C)
n.171A>C
c.1331A>C (p.His444Pro)
c.5-3713A>C (n.5-3713A>C)
c.491A>C (p.His164Pro)
c.-98-17474A>C (n.-98-17474A>C)
n.5154A>C
n.5195A>C
 ClinVar dbSNP
17g.43067664T=CA2260771382BRCA1c.5015A= (p.His1672=)
c.5018A= (p.His1673=)
c.4892A= (p.His1631=)
c.5012A= (p.His1671=)
c.4940A= (p.His1647=)
c.1706A= (p.His569=)
c.1568A= (p.His523=)
c.4130A= (p.His1377=)
c.4895A= (p.His1632=)
c.5084A= (p.His1695=)
c.4877A= (p.His1626=)
c.1580A= (p.His527=)
c.5081A= (p.His1694=)
c.1405A=
c.1592A= (p.His531=)
c.*4801A= (n.*4801A=)
n.171A=
c.1331A= (p.His444=)
c.5-3713A= (n.5-3713A=)
c.491A= (p.His164=)
c.-98-17474A= (n.-98-17474A=)
n.5154A=
n.5195A=
17g.43067665G>ACA053698BRCA1c.5014C>T (p.His1672Tyr)
c.5017C>T (p.His1673Tyr)
c.4891C>T (p.His1631Tyr)
c.5011C>T (p.His1671Tyr)
c.4939C>T (p.His1647Tyr)
c.1705C>T (p.His569Tyr)
c.1567C>T (p.His523Tyr)
c.4129C>T (p.His1377Tyr)
c.4894C>T (p.His1632Tyr)
c.5083C>T (p.His1695Tyr)
c.4876C>T (p.His1626Tyr)
c.1579C>T (p.His527Tyr)
c.5080C>T (p.His1694Tyr)
c.1404C>T
c.1591C>T (p.His531Tyr)
c.*4800C>T (n.*4800C>T)
n.170C>T
c.1330C>T (p.His444Tyr)
c.5-3714C>T (n.5-3714C>T)
c.490C>T (p.His164Tyr)
c.-98-17475C>T (n.-98-17475C>T)
n.5153C>T
n.5194C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43067665G>CCA10591482BRCA1c.5014C>G (p.His1672Asp)
c.5017C>G (p.His1673Asp)
c.4891C>G (p.His1631Asp)
c.5011C>G (p.His1671Asp)
c.4939C>G (p.His1647Asp)
c.1705C>G (p.His569Asp)
c.1567C>G (p.His523Asp)
c.4129C>G (p.His1377Asp)
c.4894C>G (p.His1632Asp)
c.5083C>G (p.His1695Asp)
c.4876C>G (p.His1626Asp)
c.1579C>G (p.His527Asp)
c.5080C>G (p.His1694Asp)
c.1404C>G
c.1591C>G (p.His531Asp)
c.*4800C>G (n.*4800C>G)
n.170C>G
c.1330C>G (p.His444Asp)
c.5-3714C>G (n.5-3714C>G)
c.490C>G (p.His164Asp)
c.-98-17475C>G (n.-98-17475C>G)
n.5153C>G
n.5194C>G
 ClinVar dbSNP
17g.43067665G=CA2260771383BRCA1c.5014C= (p.His1672=)
c.5017C= (p.His1673=)
c.4891C= (p.His1631=)
c.5011C= (p.His1671=)
c.4939C= (p.His1647=)
c.1705C= (p.His569=)
c.1567C= (p.His523=)
c.4129C= (p.His1377=)
c.4894C= (p.His1632=)
c.5083C= (p.His1695=)
c.4876C= (p.His1626=)
c.1579C= (p.His527=)
c.5080C= (p.His1694=)
c.1404C=
c.1591C= (p.His531=)
c.*4800C= (n.*4800C=)
n.170C=
c.1330C= (p.His444=)
c.5-3714C= (n.5-3714C=)
c.490C= (p.His164=)
c.-98-17475C= (n.-98-17475C=)
n.5153C=
n.5194C=
17g.43067665G>TCA10591483BRCA1c.5014C>A (p.His1672Asn)
c.5017C>A (p.His1673Asn)
c.4891C>A (p.His1631Asn)
c.5011C>A (p.His1671Asn)
c.4939C>A (p.His1647Asn)
c.1705C>A (p.His569Asn)
c.1567C>A (p.His523Asn)
c.4129C>A (p.His1377Asn)
c.4894C>A (p.His1632Asn)
c.5083C>A (p.His1695Asn)
c.4876C>A (p.His1626Asn)
c.1579C>A (p.His527Asn)
c.5080C>A (p.His1694Asn)
c.1404C>A
c.1591C>A (p.His531Asn)
c.*4800C>A (n.*4800C>A)
n.170C>A
c.1330C>A (p.His444Asn)
c.5-3714C>A (n.5-3714C>A)
c.490C>A (p.His164Asn)
c.-98-17475C>A (n.-98-17475C>A)
n.5153C>A
n.5194C>A
 ClinVar dbSNP
17g.43067666G>ACA500146376BRCA1c.5013C>T (p.His1671=)
c.5016C>T (p.His1672=)
c.4890C>T (p.His1630=)
c.5010C>T (p.His1670=)
c.4938C>T (p.His1646=)
c.1704C>T (p.His568=)
c.1566C>T (p.His522=)
c.4128C>T (p.His1376=)
c.4893C>T (p.His1631=)
c.5082C>T (p.His1694=)
c.4875C>T (p.His1625=)
c.1578C>T (p.His526=)
c.5079C>T (p.His1693=)
c.1403C>T
c.1590C>T (p.His530=)
c.*4799C>T (n.*4799C>T)
n.169C>T
c.1329C>T (p.His443=)
c.5-3715C>T (n.5-3715C>T)
c.489C>T (p.His163=)
c.-98-17476C>T (n.-98-17476C>T)
n.5152C>T
n.5193C>T
 ClinVar dbSNP
17g.43067666G>CCA10591484BRCA1c.5013C>G (p.His1671Gln)
c.5016C>G (p.His1672Gln)
c.4890C>G (p.His1630Gln)
c.5010C>G (p.His1670Gln)
c.4938C>G (p.His1646Gln)
c.1704C>G (p.His568Gln)
c.1566C>G (p.His522Gln)
c.4128C>G (p.His1376Gln)
c.4893C>G (p.His1631Gln)
c.5082C>G (p.His1694Gln)
c.4875C>G (p.His1625Gln)
c.1578C>G (p.His526Gln)
c.5079C>G (p.His1693Gln)
c.1403C>G
c.1590C>G (p.His530Gln)
c.*4799C>G (n.*4799C>G)
n.169C>G
c.1329C>G (p.His443Gln)
c.5-3715C>G (n.5-3715C>G)
c.489C>G (p.His163Gln)
c.-98-17476C>G (n.-98-17476C>G)
n.5152C>G
n.5193C>G
 ClinVar dbSNP
17g.43067666G=CA2260771384BRCA1c.5013C= (p.His1671=)
c.5016C= (p.His1672=)
c.4890C= (p.His1630=)
c.5010C= (p.His1670=)
c.4938C= (p.His1646=)
c.1704C= (p.His568=)
c.1566C= (p.His522=)
c.4128C= (p.His1376=)
c.4893C= (p.His1631=)
c.5082C= (p.His1694=)
c.4875C= (p.His1625=)
c.1578C= (p.His526=)
c.5079C= (p.His1693=)
c.1403C=
c.1590C= (p.His530=)
c.*4799C= (n.*4799C=)
n.169C=
c.1329C= (p.His443=)
c.5-3715C= (n.5-3715C=)
c.489C= (p.His163=)
c.-98-17476C= (n.-98-17476C=)
n.5152C=
n.5193C=
17g.43067666G>TCA10591485BRCA1c.5013C>A (p.His1671Gln)
c.5016C>A (p.His1672Gln)
c.4890C>A (p.His1630Gln)
c.5010C>A (p.His1670Gln)
c.4938C>A (p.His1646Gln)
c.1704C>A (p.His568Gln)
c.1566C>A (p.His522Gln)
c.4128C>A (p.His1376Gln)
c.4893C>A (p.His1631Gln)
c.5082C>A (p.His1694Gln)
c.4875C>A (p.His1625Gln)
c.1578C>A (p.His526Gln)
c.5079C>A (p.His1693Gln)
c.1403C>A
c.1590C>A (p.His530Gln)
c.*4799C>A (n.*4799C>A)
n.169C>A
c.1329C>A (p.His443Gln)
c.5-3715C>A (n.5-3715C>A)
c.489C>A (p.His163Gln)
c.-98-17476C>A (n.-98-17476C>A)
n.5152C>A
n.5193C>A
 ClinVar dbSNP
17g.43067667T>ACA10591486BRCA1c.5012A>T (p.His1671Leu)
c.5015A>T (p.His1672Leu)
c.4889A>T (p.His1630Leu)
c.5009A>T (p.His1670Leu)
c.4937A>T (p.His1646Leu)
c.1703A>T (p.His568Leu)
c.1565A>T (p.His522Leu)
c.4127A>T (p.His1376Leu)
c.4892A>T (p.His1631Leu)
c.5081A>T (p.His1694Leu)
c.4874A>T (p.His1625Leu)
c.1577A>T (p.His526Leu)
c.5078A>T (p.His1693Leu)
c.1402A>T
c.1589A>T (p.His530Leu)
c.*4798A>T (n.*4798A>T)
n.168A>T
c.1328A>T (p.His443Leu)
c.5-3716A>T (n.5-3716A>T)
c.488A>T (p.His163Leu)
c.-98-17477A>T (n.-98-17477A>T)
n.5151A>T
n.5192A>T
 ClinVar dbSNP
17g.43067667T>CCA10591487BRCA1c.5012A>G (p.His1671Arg)
c.5015A>G (p.His1672Arg)
c.4889A>G (p.His1630Arg)
c.5009A>G (p.His1670Arg)
c.4937A>G (p.His1646Arg)
c.1703A>G (p.His568Arg)
c.1565A>G (p.His522Arg)
c.4127A>G (p.His1376Arg)
c.4892A>G (p.His1631Arg)
c.5081A>G (p.His1694Arg)
c.4874A>G (p.His1625Arg)
c.1577A>G (p.His526Arg)
c.5078A>G (p.His1693Arg)
c.1402A>G
c.1589A>G (p.His530Arg)
c.*4798A>G (n.*4798A>G)
n.168A>G
c.1328A>G (p.His443Arg)
c.5-3716A>G (n.5-3716A>G)
c.488A>G (p.His163Arg)
c.-98-17477A>G (n.-98-17477A>G)
n.5151A>G
n.5192A>G
 ClinVar dbSNP gnomAD v4
17g.43067667T>GCA10591488BRCA1c.5012A>C (p.His1671Pro)
c.5015A>C (p.His1672Pro)
c.4889A>C (p.His1630Pro)
c.5009A>C (p.His1670Pro)
c.4937A>C (p.His1646Pro)
c.1703A>C (p.His568Pro)
c.1565A>C (p.His522Pro)
c.4127A>C (p.His1376Pro)
c.4892A>C (p.His1631Pro)
c.5081A>C (p.His1694Pro)
c.4874A>C (p.His1625Pro)
c.1577A>C (p.His526Pro)
c.5078A>C (p.His1693Pro)
c.1402A>C
c.1589A>C (p.His530Pro)
c.*4798A>C (n.*4798A>C)
n.168A>C
c.1328A>C (p.His443Pro)
c.5-3716A>C (n.5-3716A>C)
c.488A>C (p.His163Pro)
c.-98-17477A>C (n.-98-17477A>C)
n.5151A>C
n.5192A>C
 ClinVar dbSNP
17g.43067667T=CA2260771385BRCA1c.5012A= (p.His1671=)
c.5015A= (p.His1672=)
c.4889A= (p.His1630=)
c.5009A= (p.His1670=)
c.4937A= (p.His1646=)
c.1703A= (p.His568=)
c.1565A= (p.His522=)
c.4127A= (p.His1376=)
c.4892A= (p.His1631=)
c.5081A= (p.His1694=)
c.4874A= (p.His1625=)
c.1577A= (p.His526=)
c.5078A= (p.His1693=)
c.1402A=
c.1589A= (p.His530=)
c.*4798A= (n.*4798A=)
n.168A=
c.1328A= (p.His443=)
c.5-3716A= (n.5-3716A=)
c.488A= (p.His163=)
c.-98-17477A= (n.-98-17477A=)
n.5151A=
n.5192A=
17g.43067668_43067670delCA2580094117BRCA1c.5010_5012del (p.Lys1670_His1671delinsAsn)
c.5013_5015del (p.Lys1671_His1672delinsAsn)
c.4887_4889del (p.Lys1629_His1630delinsAsn)
c.5007_5009del (p.Lys1669_His1670delinsAsn)
c.4935_4937del (p.Lys1645_His1646delinsAsn)
c.1701_1703del (p.Lys567_His568delinsAsn)
c.1563_1565del (p.Lys521_His522delinsAsn)
c.4125_4127del (p.Lys1375_His1376delinsAsn)
c.4890_4892del (p.Lys1630_His1631delinsAsn)
c.5079_5081del (p.Lys1693_His1694delinsAsn)
c.4872_4874del (p.Lys1624_His1625delinsAsn)
c.1575_1577del (p.Lys525_His526delinsAsn)
c.5076_5078del (p.Lys1692_His1693delinsAsn)
c.1400_1402del
c.1587_1589del (p.Lys529_His530delinsAsn)
c.*4796_*4798del (n.*4796_*4798del)
n.166_168del
c.1326_1328del (p.Lys442_His443delinsAsn)
c.5-3718_5-3716del (n.5-3718_5-3716del)
c.486_488del (p.Lys162_His163delinsAsn)
c.-98-17479_-98-17477del (n.-98-17479_-98-17477del)
n.5149_5151del
n.5190_5192del
 ClinVar
17g.43067668G>ACA003153BRCA1c.5011C>T (p.His1671Tyr)
c.5014C>T (p.His1672Tyr)
c.4888C>T (p.His1630Tyr)
c.5008C>T (p.His1670Tyr)
c.4936C>T (p.His1646Tyr)
c.1702C>T (p.His568Tyr)
c.1564C>T (p.His522Tyr)
c.4126C>T (p.His1376Tyr)
c.4891C>T (p.His1631Tyr)
c.5080C>T (p.His1694Tyr)
c.4873C>T (p.His1625Tyr)
c.1576C>T (p.His526Tyr)
c.5077C>T (p.His1693Tyr)
c.1401C>T
c.1588C>T (p.His530Tyr)
c.*4797C>T (n.*4797C>T)
n.167C>T
c.1327C>T (p.His443Tyr)
c.5-3717C>T (n.5-3717C>T)
c.487C>T (p.His163Tyr)
c.-98-17478C>T (n.-98-17478C>T)
n.5150C>T
n.5191C>T
 ClinVar dbSNP
17g.43067668G>CCA10591489BRCA1c.5011C>G (p.His1671Asp)
c.5014C>G (p.His1672Asp)
c.4888C>G (p.His1630Asp)
c.5008C>G (p.His1670Asp)
c.4936C>G (p.His1646Asp)
c.1702C>G (p.His568Asp)
c.1564C>G (p.His522Asp)
c.4126C>G (p.His1376Asp)
c.4891C>G (p.His1631Asp)
c.5080C>G (p.His1694Asp)
c.4873C>G (p.His1625Asp)
c.1576C>G (p.His526Asp)
c.5077C>G (p.His1693Asp)
c.1401C>G
c.1588C>G (p.His530Asp)
c.*4797C>G (n.*4797C>G)
n.167C>G
c.1327C>G (p.His443Asp)
c.5-3717C>G (n.5-3717C>G)
c.487C>G (p.His163Asp)
c.-98-17478C>G (n.-98-17478C>G)
n.5150C>G
n.5191C>G
 ClinVar dbSNP
17g.43067668G=CA2260771386BRCA1c.5011C= (p.His1671=)
c.5014C= (p.His1672=)
c.4888C= (p.His1630=)
c.5008C= (p.His1670=)
c.4936C= (p.His1646=)
c.1702C= (p.His568=)
c.1564C= (p.His522=)
c.4126C= (p.His1376=)
c.4891C= (p.His1631=)
c.5080C= (p.His1694=)
c.4873C= (p.His1625=)
c.1576C= (p.His526=)
c.5077C= (p.His1693=)
c.1401C=
c.1588C= (p.His530=)
c.*4797C= (n.*4797C=)
n.167C=
c.1327C= (p.His443=)
c.5-3717C= (n.5-3717C=)
c.487C= (p.His163=)
c.-98-17478C= (n.-98-17478C=)
n.5150C=
n.5191C=
17g.43067668G>TCA10591490BRCA1c.5011C>A (p.His1671Asn)
c.5014C>A (p.His1672Asn)
c.4888C>A (p.His1630Asn)
c.5008C>A (p.His1670Asn)
c.4936C>A (p.His1646Asn)
c.1702C>A (p.His568Asn)
c.1564C>A (p.His522Asn)
c.4126C>A (p.His1376Asn)
c.4891C>A (p.His1631Asn)
c.5080C>A (p.His1694Asn)
c.4873C>A (p.His1625Asn)
c.1576C>A (p.His526Asn)
c.5077C>A (p.His1693Asn)
c.1401C>A
c.1588C>A (p.His530Asn)
c.*4797C>A (n.*4797C>A)
n.167C>A
c.1327C>A (p.His443Asn)
c.5-3717C>A (n.5-3717C>A)
c.487C>A (p.His163Asn)
c.-98-17478C>A (n.-98-17478C>A)
n.5150C>A
n.5191C>A
 ClinVar dbSNP
17g.43067669T>ACA10591491BRCA1c.5010A>T (p.Lys1670Asn)
c.5013A>T (p.Lys1671Asn)
c.4887A>T (p.Lys1629Asn)
c.5007A>T (p.Lys1669Asn)
c.4935A>T (p.Lys1645Asn)
c.1701A>T (p.Lys567Asn)
c.1563A>T (p.Lys521Asn)
c.4125A>T (p.Lys1375Asn)
c.4890A>T (p.Lys1630Asn)
c.5079A>T (p.Lys1693Asn)
c.4872A>T (p.Lys1624Asn)
c.1575A>T (p.Lys525Asn)
c.5076A>T (p.Lys1692Asn)
c.1400A>T
c.1587A>T (p.Lys529Asn)
c.*4796A>T (n.*4796A>T)
n.166A>T
c.1326A>T (p.Lys442Asn)
c.5-3718A>T (n.5-3718A>T)
c.486A>T (p.Lys162Asn)
c.-98-17479A>T (n.-98-17479A>T)
n.5149A>T
n.5190A>T
 ClinVar dbSNP
17g.43067669T>CCA500146378BRCA1c.5010A>G (p.Lys1670=)
c.5013A>G (p.Lys1671=)
c.4887A>G (p.Lys1629=)
c.5007A>G (p.Lys1669=)
c.4935A>G (p.Lys1645=)
c.1701A>G (p.Lys567=)
c.1563A>G (p.Lys521=)
c.4125A>G (p.Lys1375=)
c.4890A>G (p.Lys1630=)
c.5079A>G (p.Lys1693=)
c.4872A>G (p.Lys1624=)
c.1575A>G (p.Lys525=)
c.5076A>G (p.Lys1692=)
c.1400A>G
c.1587A>G (p.Lys529=)
c.*4796A>G (n.*4796A>G)
n.166A>G
c.1326A>G (p.Lys442=)
c.5-3718A>G (n.5-3718A>G)
c.486A>G (p.Lys162=)
c.-98-17479A>G (n.-98-17479A>G)
n.5149A>G
n.5190A>G
 ClinVar dbSNP
17g.43067669T>GCA10591492BRCA1c.5010A>C (p.Lys1670Asn)
c.5013A>C (p.Lys1671Asn)
c.4887A>C (p.Lys1629Asn)
c.5007A>C (p.Lys1669Asn)
c.4935A>C (p.Lys1645Asn)
c.1701A>C (p.Lys567Asn)
c.1563A>C (p.Lys521Asn)
c.4125A>C (p.Lys1375Asn)
c.4890A>C (p.Lys1630Asn)
c.5079A>C (p.Lys1693Asn)
c.4872A>C (p.Lys1624Asn)
c.1575A>C (p.Lys525Asn)
c.5076A>C (p.Lys1692Asn)
c.1400A>C
c.1587A>C (p.Lys529Asn)
c.*4796A>C (n.*4796A>C)
n.166A>C
c.1326A>C (p.Lys442Asn)
c.5-3718A>C (n.5-3718A>C)
c.486A>C (p.Lys162Asn)
c.-98-17479A>C (n.-98-17479A>C)
n.5149A>C
n.5190A>C
 ClinVar dbSNP
17g.43067669T=CA2260771387BRCA1c.5010A= (p.Lys1670=)
c.5013A= (p.Lys1671=)
c.4887A= (p.Lys1629=)
c.5007A= (p.Lys1669=)
c.4935A= (p.Lys1645=)
c.1701A= (p.Lys567=)
c.1563A= (p.Lys521=)
c.4125A= (p.Lys1375=)
c.4890A= (p.Lys1630=)
c.5079A= (p.Lys1693=)
c.4872A= (p.Lys1624=)
c.1575A= (p.Lys525=)
c.5076A= (p.Lys1692=)
c.1400A=
c.1587A= (p.Lys529=)
c.*4796A= (n.*4796A=)
n.166A=
c.1326A= (p.Lys442=)
c.5-3718A= (n.5-3718A=)
c.486A= (p.Lys162=)
c.-98-17479A= (n.-98-17479A=)
n.5149A=
n.5190A=
17g.43067672dupCA10589633BRCA1c.5010dup (p.His1671ThrfsTer7)
c.5013dup (p.His1672ThrfsTer7)
c.4887dup (p.His1630ThrfsTer7)
c.5007dup (p.His1670ThrfsTer7)
c.4935dup (p.His1646ThrfsTer7)
c.1701dup (p.His568ThrfsTer7)
c.1563dup (p.His522ThrfsTer7)
c.4125dup (p.His1376ThrfsTer7)
c.4890dup (p.His1631ThrfsTer7)
c.5079dup (p.His1694ThrfsTer7)
c.4872dup (p.His1625ThrfsTer7)
c.1575dup (p.His526ThrfsTer7)
c.5076dup (p.His1693ThrfsTer7)
c.1400dup
c.1587dup (p.His530ThrfsTer7)
c.*4796dup (n.*4796dup)
n.166dup
c.1326dup (p.His443ThrfsTer7)
c.5-3718dup (n.5-3718dup)
c.486dup (p.His163ThrfsTer7)
c.-98-17479dup (n.-98-17479dup)
n.5149dup
n.5190dup
 ClinVar dbSNP
17g.43067670T>ACA10591493BRCA1c.5009A>T (p.Lys1670Ile)
c.5012A>T (p.Lys1671Ile)
c.4886A>T (p.Lys1629Ile)
c.5006A>T (p.Lys1669Ile)
c.4934A>T (p.Lys1645Ile)
c.1700A>T (p.Lys567Ile)
c.1562A>T (p.Lys521Ile)
c.4124A>T (p.Lys1375Ile)
c.4889A>T (p.Lys1630Ile)
c.5078A>T (p.Lys1693Ile)
c.4871A>T (p.Lys1624Ile)
c.1574A>T (p.Lys525Ile)
c.5075A>T (p.Lys1692Ile)
c.1399A>T
c.1586A>T (p.Lys529Ile)
c.*4795A>T (n.*4795A>T)
n.165A>T
c.1325A>T (p.Lys442Ile)
c.5-3719A>T (n.5-3719A>T)
c.485A>T (p.Lys162Ile)
c.-98-17480A>T (n.-98-17480A>T)
n.5148A>T
n.5189A>T
 ClinVar dbSNP
17g.43067670T>CCA10591494BRCA1c.5009A>G (p.Lys1670Arg)
c.5012A>G (p.Lys1671Arg)
c.4886A>G (p.Lys1629Arg)
c.5006A>G (p.Lys1669Arg)
c.4934A>G (p.Lys1645Arg)
c.1700A>G (p.Lys567Arg)
c.1562A>G (p.Lys521Arg)
c.4124A>G (p.Lys1375Arg)
c.4889A>G (p.Lys1630Arg)
c.5078A>G (p.Lys1693Arg)
c.4871A>G (p.Lys1624Arg)
c.1574A>G (p.Lys525Arg)
c.5075A>G (p.Lys1692Arg)
c.1399A>G
c.1586A>G (p.Lys529Arg)
c.*4795A>G (n.*4795A>G)
n.165A>G
c.1325A>G (p.Lys442Arg)
c.5-3719A>G (n.5-3719A>G)
c.485A>G (p.Lys162Arg)
c.-98-17480A>G (n.-98-17480A>G)
n.5148A>G
n.5189A>G
 ClinVar dbSNP gnomAD v4
17g.43067670T>GCA10591495BRCA1c.5009A>C (p.Lys1670Thr)
c.5012A>C (p.Lys1671Thr)
c.4886A>C (p.Lys1629Thr)
c.5006A>C (p.Lys1669Thr)
c.4934A>C (p.Lys1645Thr)
c.1700A>C (p.Lys567Thr)
c.1562A>C (p.Lys521Thr)
c.4124A>C (p.Lys1375Thr)
c.4889A>C (p.Lys1630Thr)
c.5078A>C (p.Lys1693Thr)
c.4871A>C (p.Lys1624Thr)
c.1574A>C (p.Lys525Thr)
c.5075A>C (p.Lys1692Thr)
c.1399A>C
c.1586A>C (p.Lys529Thr)
c.*4795A>C (n.*4795A>C)
n.165A>C
c.1325A>C (p.Lys442Thr)
c.5-3719A>C (n.5-3719A>C)
c.485A>C (p.Lys162Thr)
c.-98-17480A>C (n.-98-17480A>C)
n.5148A>C
n.5189A>C
 ClinVar dbSNP
17g.43067670T=CA2260771388BRCA1c.5009A= (p.Lys1670=)
c.5012A= (p.Lys1671=)
c.4886A= (p.Lys1629=)
c.5006A= (p.Lys1669=)
c.4934A= (p.Lys1645=)
c.1700A= (p.Lys567=)
c.1562A= (p.Lys521=)
c.4124A= (p.Lys1375=)
c.4889A= (p.Lys1630=)
c.5078A= (p.Lys1693=)
c.4871A= (p.Lys1624=)
c.1574A= (p.Lys525=)
c.5075A= (p.Lys1692=)
c.1399A=
c.1586A= (p.Lys529=)
c.*4795A= (n.*4795A=)
n.165A=
c.1325A= (p.Lys442=)
c.5-3719A= (n.5-3719A=)
c.485A= (p.Lys162=)
c.-98-17480A= (n.-98-17480A=)
n.5148A=
n.5189A=
17g.43067671T>ACA10591496BRCA1c.5008A>T (p.Lys1670Ter)
c.5011A>T (p.Lys1671Ter)
c.4885A>T (p.Lys1629Ter)
c.5005A>T (p.Lys1669Ter)
c.4933A>T (p.Lys1645Ter)
c.1699A>T (p.Lys567Ter)
c.1561A>T (p.Lys521Ter)
c.4123A>T (p.Lys1375Ter)
c.4888A>T (p.Lys1630Ter)
c.5077A>T (p.Lys1693Ter)
c.4870A>T (p.Lys1624Ter)
c.1573A>T (p.Lys525Ter)
c.5074A>T (p.Lys1692Ter)
c.1398A>T
c.1585A>T (p.Lys529Ter)
c.*4794A>T (n.*4794A>T)
n.164A>T
c.1324A>T (p.Lys442Ter)
c.5-3720A>T (n.5-3720A>T)
c.484A>T (p.Lys162Ter)
c.-98-17481A>T (n.-98-17481A>T)
n.5147A>T
n.5188A>T
 ClinVar dbSNP
17g.43067671T>CCA10591497BRCA1c.5008A>G (p.Lys1670Glu)
c.5011A>G (p.Lys1671Glu)
c.4885A>G (p.Lys1629Glu)
c.5005A>G (p.Lys1669Glu)
c.4933A>G (p.Lys1645Glu)
c.1699A>G (p.Lys567Glu)
c.1561A>G (p.Lys521Glu)
c.4123A>G (p.Lys1375Glu)
c.4888A>G (p.Lys1630Glu)
c.5077A>G (p.Lys1693Glu)
c.4870A>G (p.Lys1624Glu)
c.1573A>G (p.Lys525Glu)
c.5074A>G (p.Lys1692Glu)
c.1398A>G
c.1585A>G (p.Lys529Glu)
c.*4794A>G (n.*4794A>G)
n.164A>G
c.1324A>G (p.Lys442Glu)
c.5-3720A>G (n.5-3720A>G)
c.484A>G (p.Lys162Glu)
c.-98-17481A>G (n.-98-17481A>G)
n.5147A>G
n.5188A>G
 ClinVar dbSNP
17g.43067671T>GCA10591498BRCA1c.5008A>C (p.Lys1670Gln)
c.5011A>C (p.Lys1671Gln)
c.4885A>C (p.Lys1629Gln)
c.5005A>C (p.Lys1669Gln)
c.4933A>C (p.Lys1645Gln)
c.1699A>C (p.Lys567Gln)
c.1561A>C (p.Lys521Gln)
c.4123A>C (p.Lys1375Gln)
c.4888A>C (p.Lys1630Gln)
c.5077A>C (p.Lys1693Gln)
c.4870A>C (p.Lys1624Gln)
c.1573A>C (p.Lys525Gln)
c.5074A>C (p.Lys1692Gln)
c.1398A>C
c.1585A>C (p.Lys529Gln)
c.*4794A>C (n.*4794A>C)
n.164A>C
c.1324A>C (p.Lys442Gln)
c.5-3720A>C (n.5-3720A>C)
c.484A>C (p.Lys162Gln)
c.-98-17481A>C (n.-98-17481A>C)
n.5147A>C
n.5188A>C
 ClinVar dbSNP
17g.43067671T=CA2260771389BRCA1c.5008A= (p.Lys1670=)
c.5011A= (p.Lys1671=)
c.4885A= (p.Lys1629=)
c.5005A= (p.Lys1669=)
c.4933A= (p.Lys1645=)
c.1699A= (p.Lys567=)
c.1561A= (p.Lys521=)
c.4123A= (p.Lys1375=)
c.4888A= (p.Lys1630=)
c.5077A= (p.Lys1693=)
c.4870A= (p.Lys1624=)
c.1573A= (p.Lys525=)
c.5074A= (p.Lys1692=)
c.1398A=
c.1585A= (p.Lys529=)
c.*4794A= (n.*4794A=)
n.164A=
c.1324A= (p.Lys442=)
c.5-3720A= (n.5-3720A=)
c.484A= (p.Lys162=)
c.-98-17481A= (n.-98-17481A=)
n.5147A=
n.5188A=
17g.43067672T>ACA10591499BRCA1c.5007A>T (p.Arg1669Ser)
c.5010A>T (p.Arg1670Ser)
c.4884A>T (p.Arg1628Ser)
c.5004A>T (p.Arg1668Ser)
c.4932A>T (p.Arg1644Ser)
c.1698A>T (p.Arg566Ser)
c.1560A>T (p.Arg520Ser)
c.4122A>T (p.Arg1374Ser)
c.4887A>T (p.Arg1629Ser)
c.5076A>T (p.Arg1692Ser)
c.4869A>T (p.Arg1623Ser)
c.1572A>T (p.Arg524Ser)
c.5073A>T (p.Arg1691Ser)
c.1397A>T
c.1584A>T (p.Arg528Ser)
c.*4793A>T (n.*4793A>T)
n.163A>T
c.1323A>T (p.Arg441Ser)
c.5-3721A>T (n.5-3721A>T)
c.483A>T (p.Arg161Ser)
c.-98-17482A>T (n.-98-17482A>T)
n.5146A>T
n.5187A>T
 ClinVar dbSNP
17g.43067672T>CCA053689BRCA1c.5007A>G (p.Arg1669=)
c.5010A>G (p.Arg1670=)
c.4884A>G (p.Arg1628=)
c.5004A>G (p.Arg1668=)
c.4932A>G (p.Arg1644=)
c.1698A>G (p.Arg566=)
c.1560A>G (p.Arg520=)
c.4122A>G (p.Arg1374=)
c.4887A>G (p.Arg1629=)
c.5076A>G (p.Arg1692=)
c.4869A>G (p.Arg1623=)
c.1572A>G (p.Arg524=)
c.5073A>G (p.Arg1691=)
c.1397A>G
c.1584A>G (p.Arg528=)
c.*4793A>G (n.*4793A>G)
n.163A>G
c.1323A>G (p.Arg441=)
c.5-3721A>G (n.5-3721A>G)
c.483A>G (p.Arg161=)
c.-98-17482A>G (n.-98-17482A>G)
n.5146A>G
n.5187A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43067672T>GCA10591500BRCA1c.5007A>C (p.Arg1669Ser)
c.5010A>C (p.Arg1670Ser)
c.4884A>C (p.Arg1628Ser)
c.5004A>C (p.Arg1668Ser)
c.4932A>C (p.Arg1644Ser)
c.1698A>C (p.Arg566Ser)
c.1560A>C (p.Arg520Ser)
c.4122A>C (p.Arg1374Ser)
c.4887A>C (p.Arg1629Ser)
c.5076A>C (p.Arg1692Ser)
c.4869A>C (p.Arg1623Ser)
c.1572A>C (p.Arg524Ser)
c.5073A>C (p.Arg1691Ser)
c.1397A>C
c.1584A>C (p.Arg528Ser)
c.*4793A>C (n.*4793A>C)
n.163A>C
c.1323A>C (p.Arg441Ser)
c.5-3721A>C (n.5-3721A>C)
c.483A>C (p.Arg161Ser)
c.-98-17482A>C (n.-98-17482A>C)
n.5146A>C
n.5187A>C
 ClinVar dbSNP
17g.43067672T=CA2260771390BRCA1c.5007A= (p.Arg1669=)
c.5010A= (p.Arg1670=)
c.4884A= (p.Arg1628=)
c.5004A= (p.Arg1668=)
c.4932A= (p.Arg1644=)
c.1698A= (p.Arg566=)
c.1560A= (p.Arg520=)
c.4122A= (p.Arg1374=)
c.4887A= (p.Arg1629=)
c.5076A= (p.Arg1692=)
c.4869A= (p.Arg1623=)
c.1572A= (p.Arg524=)
c.5073A= (p.Arg1691=)
c.1397A=
c.1584A= (p.Arg528=)
c.*4793A= (n.*4793A=)
n.163A=
c.1323A= (p.Arg441=)
c.5-3721A= (n.5-3721A=)
c.483A= (p.Arg161=)
c.-98-17482A= (n.-98-17482A=)
n.5146A=
n.5187A=
17g.43067673C>ACA10591501BRCA1c.5006G>T (p.Arg1669Ile)
c.5009G>T (p.Arg1670Ile)
c.4883G>T (p.Arg1628Ile)
c.5003G>T (p.Arg1668Ile)
c.4931G>T (p.Arg1644Ile)
c.1697G>T (p.Arg566Ile)
c.1559G>T (p.Arg520Ile)
c.4121G>T (p.Arg1374Ile)
c.4886G>T (p.Arg1629Ile)
c.5075G>T (p.Arg1692Ile)
c.4868G>T (p.Arg1623Ile)
c.1571G>T (p.Arg524Ile)
c.5072G>T (p.Arg1691Ile)
c.1396G>T
c.1583G>T (p.Arg528Ile)
c.*4792G>T (n.*4792G>T)
n.162G>T
c.1322G>T (p.Arg441Ile)
c.5-3722G>T (n.5-3722G>T)
c.482G>T (p.Arg161Ile)
c.-98-17483G>T (n.-98-17483G>T)
n.5145G>T
n.5186G>T
 ClinVar dbSNP
17g.43067673C=CA2260771391BRCA1c.5006G= (p.Arg1669=)
c.5009G= (p.Arg1670=)
c.4883G= (p.Arg1628=)
c.5003G= (p.Arg1668=)
c.4931G= (p.Arg1644=)
c.1697G= (p.Arg566=)
c.1559G= (p.Arg520=)
c.4121G= (p.Arg1374=)
c.4886G= (p.Arg1629=)
c.5075G= (p.Arg1692=)
c.4868G= (p.Arg1623=)
c.1571G= (p.Arg524=)
c.5072G= (p.Arg1691=)
c.1396G=
c.1583G= (p.Arg528=)
c.*4792G= (n.*4792G=)
n.162G=
c.1322G= (p.Arg441=)
c.5-3722G= (n.5-3722G=)
c.482G= (p.Arg161=)
c.-98-17483G= (n.-98-17483G=)
n.5145G=
n.5186G=
17g.43067673C>GCA10591502BRCA1c.5006G>C (p.Arg1669Thr)
c.5009G>C (p.Arg1670Thr)
c.4883G>C (p.Arg1628Thr)
c.5003G>C (p.Arg1668Thr)
c.4931G>C (p.Arg1644Thr)
c.1697G>C (p.Arg566Thr)
c.1559G>C (p.Arg520Thr)
c.4121G>C (p.Arg1374Thr)
c.4886G>C (p.Arg1629Thr)
c.5075G>C (p.Arg1692Thr)
c.4868G>C (p.Arg1623Thr)
c.1571G>C (p.Arg524Thr)
c.5072G>C (p.Arg1691Thr)
c.1396G>C
c.1583G>C (p.Arg528Thr)
c.*4792G>C (n.*4792G>C)
n.162G>C
c.1322G>C (p.Arg441Thr)
c.5-3722G>C (n.5-3722G>C)
c.482G>C (p.Arg161Thr)
c.-98-17483G>C (n.-98-17483G>C)
n.5145G>C
n.5186G>C
 ClinVar dbSNP
17g.43067673C>TCA10591503BRCA1c.5006G>A (p.Arg1669Lys)
c.5009G>A (p.Arg1670Lys)
c.4883G>A (p.Arg1628Lys)
c.5003G>A (p.Arg1668Lys)
c.4931G>A (p.Arg1644Lys)
c.1697G>A (p.Arg566Lys)
c.1559G>A (p.Arg520Lys)
c.4121G>A (p.Arg1374Lys)
c.4886G>A (p.Arg1629Lys)
c.5075G>A (p.Arg1692Lys)
c.4868G>A (p.Arg1623Lys)
c.1571G>A (p.Arg524Lys)
c.5072G>A (p.Arg1691Lys)
c.1396G>A
c.1583G>A (p.Arg528Lys)
c.*4792G>A (n.*4792G>A)
n.162G>A
c.1322G>A (p.Arg441Lys)
c.5-3722G>A (n.5-3722G>A)
c.482G>A (p.Arg161Lys)
c.-98-17483G>A (n.-98-17483G>A)
n.5145G>A
n.5186G>A
 ClinVar dbSNP
17g.43067673_43067674insGCA658824727BRCA1c.5005_5006insC (p.Arg1669ThrfsTer9)
c.5008_5009insC (p.Arg1670ThrfsTer9)
c.4882_4883insC (p.Arg1628ThrfsTer9)
c.5002_5003insC (p.Arg1668ThrfsTer9)
c.4930_4931insC (p.Arg1644ThrfsTer9)
c.1696_1697insC (p.Arg566ThrfsTer9)
c.1558_1559insC (p.Arg520ThrfsTer9)
c.4120_4121insC (p.Arg1374ThrfsTer9)
c.4885_4886insC (p.Arg1629ThrfsTer9)
c.5074_5075insC (p.Arg1692ThrfsTer9)
c.4867_4868insC (p.Arg1623ThrfsTer9)
c.1570_1571insC (p.Arg524ThrfsTer9)
c.5071_5072insC (p.Arg1691ThrfsTer9)
c.1395_1396insC
c.1582_1583insC (p.Arg528ThrfsTer9)
c.*4791_*4792insC (n.*4791_*4792insC)
n.161_162insC
c.1321_1322insC (p.Arg441ThrfsTer9)
c.5-3723_5-3722insC (n.5-3723_5-3722insC)
c.481_482insC (p.Arg161ThrfsTer9)
c.-98-17484_-98-17483insC (n.-98-17484_-98-17483insC)
n.5144_5145insC
n.5185_5186insC
 ClinVar dbSNP
17g.43067674T>ACA10591504BRCA1c.5005A>T (p.Arg1669Ter)
c.5008A>T (p.Arg1670Ter)
c.4882A>T (p.Arg1628Ter)
c.5002A>T (p.Arg1668Ter)
c.4930A>T (p.Arg1644Ter)
c.1696A>T (p.Arg566Ter)
c.1558A>T (p.Arg520Ter)
c.4120A>T (p.Arg1374Ter)
c.4885A>T (p.Arg1629Ter)
c.5074A>T (p.Arg1692Ter)
c.4867A>T (p.Arg1623Ter)
c.1570A>T (p.Arg524Ter)
c.5071A>T (p.Arg1691Ter)
c.1395A>T
c.1582A>T (p.Arg528Ter)
c.*4791A>T (n.*4791A>T)
n.161A>T
c.1321A>T (p.Arg441Ter)
c.5-3723A>T (n.5-3723A>T)
c.481A>T (p.Arg161Ter)
c.-98-17484A>T (n.-98-17484A>T)
n.5144A>T
n.5185A>T
 ClinVar dbSNP
17g.43067674T>CCA10591505BRCA1c.5005A>G (p.Arg1669Gly)
c.5008A>G (p.Arg1670Gly)
c.4882A>G (p.Arg1628Gly)
c.5002A>G (p.Arg1668Gly)
c.4930A>G (p.Arg1644Gly)
c.1696A>G (p.Arg566Gly)
c.1558A>G (p.Arg520Gly)
c.4120A>G (p.Arg1374Gly)
c.4885A>G (p.Arg1629Gly)
c.5074A>G (p.Arg1692Gly)
c.4867A>G (p.Arg1623Gly)
c.1570A>G (p.Arg524Gly)
c.5071A>G (p.Arg1691Gly)
c.1395A>G
c.1582A>G (p.Arg528Gly)
c.*4791A>G (n.*4791A>G)
n.161A>G
c.1321A>G (p.Arg441Gly)
c.5-3723A>G (n.5-3723A>G)
c.481A>G (p.Arg161Gly)
c.-98-17484A>G (n.-98-17484A>G)
n.5144A>G
n.5185A>G
 ClinVar dbSNP
17g.43067674T>GCA16607661BRCA1c.5005A>C (p.Arg1669=)
c.5008A>C (p.Arg1670=)
c.4882A>C (p.Arg1628=)
c.5002A>C (p.Arg1668=)
c.4930A>C (p.Arg1644=)
c.1696A>C (p.Arg566=)
c.1558A>C (p.Arg520=)
c.4120A>C (p.Arg1374=)
c.4885A>C (p.Arg1629=)
c.5074A>C (p.Arg1692=)
c.4867A>C (p.Arg1623=)
c.1570A>C (p.Arg524=)
c.5071A>C (p.Arg1691=)
c.1395A>C
c.1582A>C (p.Arg528=)
c.*4791A>C (n.*4791A>C)
n.161A>C
c.1321A>C (p.Arg441=)
c.5-3723A>C (n.5-3723A>C)
c.481A>C (p.Arg161=)
c.-98-17484A>C (n.-98-17484A>C)
n.5144A>C
n.5185A>C
 ClinVar dbSNP
17g.43067674T=CA2260771392BRCA1c.5005A= (p.Arg1669=)
c.5008A= (p.Arg1670=)
c.4882A= (p.Arg1628=)
c.5002A= (p.Arg1668=)
c.4930A= (p.Arg1644=)
c.1696A= (p.Arg566=)
c.1558A= (p.Arg520=)
c.4120A= (p.Arg1374=)
c.4885A= (p.Arg1629=)
c.5074A= (p.Arg1692=)
c.4867A= (p.Arg1623=)
c.1570A= (p.Arg524=)
c.5071A= (p.Arg1691=)
c.1395A=
c.1582A= (p.Arg528=)
c.*4791A= (n.*4791A=)
n.161A=
c.1321A= (p.Arg441=)
c.5-3723A= (n.5-3723A=)
c.481A= (p.Arg161=)
c.-98-17484A= (n.-98-17484A=)
n.5144A=
n.5185A=
17g.43067675G>ACA053683BRCA1c.5004C>T (p.Ala1668=)
c.5007C>T (p.Ala1669=)
c.4881C>T (p.Ala1627=)
c.5001C>T (p.Ala1667=)
c.4929C>T (p.Ala1643=)
c.1695C>T (p.Ala565=)
c.1557C>T (p.Ala519=)
c.4119C>T (p.Ala1373=)
c.4884C>T (p.Ala1628=)
c.5073C>T (p.Ala1691=)
c.4866C>T (p.Ala1622=)
c.1569C>T (p.Ala523=)
c.5070C>T (p.Ala1690=)
c.1394C>T
c.1581C>T (p.Ala527=)
c.*4790C>T (n.*4790C>T)
n.160C>T
c.1320C>T (p.Ala440=)
c.5-3724C>T (n.5-3724C>T)
c.480C>T (p.Ala160=)
c.-98-17485C>T (n.-98-17485C>T)
n.5143C>T
n.5184C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43067675G>CCA500146383BRCA1c.5004C>G (p.Ala1668=)
c.5007C>G (p.Ala1669=)
c.4881C>G (p.Ala1627=)
c.5001C>G (p.Ala1667=)
c.4929C>G (p.Ala1643=)
c.1695C>G (p.Ala565=)
c.1557C>G (p.Ala519=)
c.4119C>G (p.Ala1373=)
c.4884C>G (p.Ala1628=)
c.5073C>G (p.Ala1691=)
c.4866C>G (p.Ala1622=)
c.1569C>G (p.Ala523=)
c.5070C>G (p.Ala1690=)
c.1394C>G
c.1581C>G (p.Ala527=)
c.*4790C>G (n.*4790C>G)
n.160C>G
c.1320C>G (p.Ala440=)
c.5-3724C>G (n.5-3724C>G)
c.480C>G (p.Ala160=)
c.-98-17485C>G (n.-98-17485C>G)
n.5143C>G
n.5184C>G
 ClinVar dbSNP
17g.43067675G=CA2260771393BRCA1c.5004C= (p.Ala1668=)
c.5007C= (p.Ala1669=)
c.4881C= (p.Ala1627=)
c.5001C= (p.Ala1667=)
c.4929C= (p.Ala1643=)
c.1695C= (p.Ala565=)
c.1557C= (p.Ala519=)
c.4119C= (p.Ala1373=)
c.4884C= (p.Ala1628=)
c.5073C= (p.Ala1691=)
c.4866C= (p.Ala1622=)
c.1569C= (p.Ala523=)
c.5070C= (p.Ala1690=)
c.1394C=
c.1581C= (p.Ala527=)
c.*4790C= (n.*4790C=)
n.160C=
c.1320C= (p.Ala440=)
c.5-3724C= (n.5-3724C=)
c.480C= (p.Ala160=)
c.-98-17485C= (n.-98-17485C=)
n.5143C=
n.5184C=
17g.43067675G>TCA500146384BRCA1c.5004C>A (p.Ala1668=)
c.5007C>A (p.Ala1669=)
c.4881C>A (p.Ala1627=)
c.5001C>A (p.Ala1667=)
c.4929C>A (p.Ala1643=)
c.1695C>A (p.Ala565=)
c.1557C>A (p.Ala519=)
c.4119C>A (p.Ala1373=)
c.4884C>A (p.Ala1628=)
c.5073C>A (p.Ala1691=)
c.4866C>A (p.Ala1622=)
c.1569C>A (p.Ala523=)
c.5070C>A (p.Ala1690=)
c.1394C>A
c.1581C>A (p.Ala527=)
c.*4790C>A (n.*4790C>A)
n.160C>A
c.1320C>A (p.Ala440=)
c.5-3724C>A (n.5-3724C>A)
c.480C>A (p.Ala160=)
c.-98-17485C>A (n.-98-17485C>A)
n.5143C>A
n.5184C>A
 ClinVar dbSNP
17g.43067676dupCA645373162BRCA1c.5004dup (p.Arg1669GlnfsTer9)
c.5007dup (p.Arg1670GlnfsTer9)
c.4881dup (p.Arg1628GlnfsTer9)
c.5001dup (p.Arg1668GlnfsTer9)
c.4929dup (p.Arg1644GlnfsTer9)
c.1695dup (p.Arg566GlnfsTer9)
c.1557dup (p.Arg520GlnfsTer9)
c.4119dup (p.Arg1374GlnfsTer9)
c.4884dup (p.Arg1629GlnfsTer9)
c.5073dup (p.Arg1692GlnfsTer9)
c.4866dup (p.Arg1623GlnfsTer9)
c.1569dup (p.Arg524GlnfsTer9)
c.5070dup (p.Arg1691GlnfsTer9)
c.1394dup
c.1581dup (p.Arg528GlnfsTer9)
c.*4790dup (n.*4790dup)
n.160dup
c.1320dup (p.Arg441GlnfsTer9)
c.5-3724dup (n.5-3724dup)
c.480dup (p.Arg161GlnfsTer9)
c.-98-17485dup (n.-98-17485dup)
n.5143dup
n.5184dup
 ClinVar dbSNP
17g.43067675_43067687dupCA10589634BRCA1c.4992_5004dup (p.Arg1669ValfsTer13)
c.4995_5007dup (p.Arg1670ValfsTer13)
c.4869_4881dup (p.Arg1628ValfsTer13)
c.4989_5001dup (p.Arg1668ValfsTer13)
c.4917_4929dup (p.Arg1644ValfsTer13)
c.1683_1695dup (p.Arg566ValfsTer13)
c.1545_1557dup (p.Arg520ValfsTer13)
c.4107_4119dup (p.Arg1374ValfsTer13)
c.4872_4884dup (p.Arg1629ValfsTer13)
c.5061_5073dup (p.Arg1692ValfsTer13)
c.4854_4866dup (p.Arg1623ValfsTer13)
c.1557_1569dup (p.Arg524ValfsTer13)
c.5058_5070dup (p.Arg1691ValfsTer13)
c.1382_1394dup
c.1569_1581dup (p.Arg528ValfsTer13)
c.*4778_*4790dup (n.*4778_*4790dup)
n.148_160dup
c.1308_1320dup (p.Arg441ValfsTer13)
c.5-3736_5-3724dup (n.5-3736_5-3724dup)
c.468_480dup (p.Arg161ValfsTer13)
c.-98-17497_-98-17485dup (n.-98-17497_-98-17485dup)
n.5131_5143dup
n.5172_5184dup
 ClinVar dbSNP
17g.43067676G>ACA10591506BRCA1c.5003C>T (p.Ala1668Val)
c.5006C>T (p.Ala1669Val)
c.4880C>T (p.Ala1627Val)
c.5000C>T (p.Ala1667Val)
c.4928C>T (p.Ala1643Val)
c.1694C>T (p.Ala565Val)
c.1556C>T (p.Ala519Val)
c.4118C>T (p.Ala1373Val)
c.4883C>T (p.Ala1628Val)
c.5072C>T (p.Ala1691Val)
c.4865C>T (p.Ala1622Val)
c.1568C>T (p.Ala523Val)
c.5069C>T (p.Ala1690Val)
c.1393C>T
c.1580C>T (p.Ala527Val)
c.*4789C>T (n.*4789C>T)
n.159C>T
c.1319C>T (p.Ala440Val)
c.5-3725C>T (n.5-3725C>T)
c.479C>T (p.Ala160Val)
c.-98-17486C>T (n.-98-17486C>T)
n.5142C>T
n.5183C>T
 ClinVar dbSNP
17g.43067676G>CCA10591507BRCA1c.5003C>G (p.Ala1668Gly)
c.5006C>G (p.Ala1669Gly)
c.4880C>G (p.Ala1627Gly)
c.5000C>G (p.Ala1667Gly)
c.4928C>G (p.Ala1643Gly)
c.1694C>G (p.Ala565Gly)
c.1556C>G (p.Ala519Gly)
c.4118C>G (p.Ala1373Gly)
c.4883C>G (p.Ala1628Gly)
c.5072C>G (p.Ala1691Gly)
c.4865C>G (p.Ala1622Gly)
c.1568C>G (p.Ala523Gly)
c.5069C>G (p.Ala1690Gly)
c.1393C>G
c.1580C>G (p.Ala527Gly)
c.*4789C>G (n.*4789C>G)
n.159C>G
c.1319C>G (p.Ala440Gly)
c.5-3725C>G (n.5-3725C>G)
c.479C>G (p.Ala160Gly)
c.-98-17486C>G (n.-98-17486C>G)
n.5142C>G
n.5183C>G
 ClinVar dbSNP
17g.43067676G=CA2260771394BRCA1c.5003C= (p.Ala1668=)
c.5006C= (p.Ala1669=)
c.4880C= (p.Ala1627=)
c.5000C= (p.Ala1667=)
c.4928C= (p.Ala1643=)
c.1694C= (p.Ala565=)
c.1556C= (p.Ala519=)
c.4118C= (p.Ala1373=)
c.4883C= (p.Ala1628=)
c.5072C= (p.Ala1691=)
c.4865C= (p.Ala1622=)
c.1568C= (p.Ala523=)
c.5069C= (p.Ala1690=)
c.1393C=
c.1580C= (p.Ala527=)
c.*4789C= (n.*4789C=)
n.159C=
c.1319C= (p.Ala440=)
c.5-3725C= (n.5-3725C=)
c.479C= (p.Ala160=)
c.-98-17486C= (n.-98-17486C=)
n.5142C=
n.5183C=
17g.43067676G>TCA10591508BRCA1c.5003C>A (p.Ala1668Asp)
c.5006C>A (p.Ala1669Asp)
c.4880C>A (p.Ala1627Asp)
c.5000C>A (p.Ala1667Asp)
c.4928C>A (p.Ala1643Asp)
c.1694C>A (p.Ala565Asp)
c.1556C>A (p.Ala519Asp)
c.4118C>A (p.Ala1373Asp)
c.4883C>A (p.Ala1628Asp)
c.5072C>A (p.Ala1691Asp)
c.4865C>A (p.Ala1622Asp)
c.1568C>A (p.Ala523Asp)
c.5069C>A (p.Ala1690Asp)
c.1393C>A
c.1580C>A (p.Ala527Asp)
c.*4789C>A (n.*4789C>A)
n.159C>A
c.1319C>A (p.Ala440Asp)
c.5-3725C>A (n.5-3725C>A)
c.479C>A (p.Ala160Asp)
c.-98-17486C>A (n.-98-17486C>A)
n.5142C>A
n.5183C>A
 ClinVar dbSNP
17g.43067676_43067677delinsGCCA2260771395BRCA1c.5002_5003delinsGC (p.Ala1668=)
c.5005_5006delinsGC (p.Ala1669=)
c.4879_4880delinsGC (p.Ala1627=)
c.4999_5000delinsGC (p.Ala1667=)
c.4927_4928delinsGC (p.Ala1643=)
c.1693_1694delinsGC (p.Ala565=)
c.1555_1556delinsGC (p.Ala519=)
c.4117_4118delinsGC (p.Ala1373=)
c.4882_4883delinsGC (p.Ala1628=)
c.5071_5072delinsGC (p.Ala1691=)
c.4864_4865delinsGC (p.Ala1622=)
c.1567_1568delinsGC (p.Ala523=)
c.5068_5069delinsGC (p.Ala1690=)
c.1392_1393delinsGC
c.1579_1580delinsGC (p.Ala527=)
c.*4788_*4789delinsGC (n.*4788_*4789delinsGC)
n.158_159delinsGC
c.1318_1319delinsGC (p.Ala440=)
c.5-3726_5-3725delinsGC (n.5-3726_5-3725delinsGC)
c.478_479delinsGC (p.Ala160=)
c.-98-17487_-98-17486delinsGC (n.-98-17487_-98-17486delinsGC)
n.5141_5142delinsGC
n.5182_5183delinsGC
17g.43067677delCA003151BRCA1c.5002del (p.Ala1668ProfsTer8)
c.5005del (p.Ala1669ProfsTer8)
c.4879del (p.Ala1627ProfsTer8)
c.4999del (p.Ala1667ProfsTer8)
c.4927del (p.Ala1643ProfsTer8)
c.1693del (p.Ala565ProfsTer8)
c.1555del (p.Ala519ProfsTer8)
c.4117del (p.Ala1373ProfsTer8)
c.4882del (p.Ala1628ProfsTer8)
c.5071del (p.Ala1691ProfsTer8)
c.4864del (p.Ala1622ProfsTer8)
c.1567del (p.Ala523ProfsTer8)
c.5068del (p.Ala1690ProfsTer8)
c.1392del
c.1579del (p.Ala527ProfsTer8)
c.*4788del (n.*4788del)
n.158del
c.1318del (p.Ala440ProfsTer8)
c.5-3726del (n.5-3726del)
c.478del (p.Ala160ProfsTer8)
c.-98-17487del (n.-98-17487del)
n.5141del
n.5182del
 ClinVar dbSNP
17g.43067677C>ACA003152BRCA1c.5002G>T (p.Ala1668Ser)
c.5005G>T (p.Ala1669Ser)
c.4879G>T (p.Ala1627Ser)
c.4999G>T (p.Ala1667Ser)
c.4927G>T (p.Ala1643Ser)
c.1693G>T (p.Ala565Ser)
c.1555G>T (p.Ala519Ser)
c.4117G>T (p.Ala1373Ser)
c.4882G>T (p.Ala1628Ser)
c.5071G>T (p.Ala1691Ser)
c.4864G>T (p.Ala1622Ser)
c.1567G>T (p.Ala523Ser)
c.5068G>T (p.Ala1690Ser)
c.1392G>T
c.1579G>T (p.Ala527Ser)
c.*4788G>T (n.*4788G>T)
n.158G>T
c.1318G>T (p.Ala440Ser)
c.5-3726G>T (n.5-3726G>T)
c.478G>T (p.Ala160Ser)
c.-98-17487G>T (n.-98-17487G>T)
n.5141G>T
n.5182G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43067677C=CA2260771396BRCA1c.5002G= (p.Ala1668=)
c.5005G= (p.Ala1669=)
c.4879G= (p.Ala1627=)
c.4999G= (p.Ala1667=)
c.4927G= (p.Ala1643=)
c.1693G= (p.Ala565=)
c.1555G= (p.Ala519=)
c.4117G= (p.Ala1373=)
c.4882G= (p.Ala1628=)
c.5071G= (p.Ala1691=)
c.4864G= (p.Ala1622=)
c.1567G= (p.Ala523=)
c.5068G= (p.Ala1690=)
c.1392G=
c.1579G= (p.Ala527=)
c.*4788G= (n.*4788G=)
n.158G=
c.1318G= (p.Ala440=)
c.5-3726G= (n.5-3726G=)
c.478G= (p.Ala160=)
c.-98-17487G= (n.-98-17487G=)
n.5141G=
n.5182G=
17g.43067677C>GCA10591509BRCA1c.5002G>C (p.Ala1668Pro)
c.5005G>C (p.Ala1669Pro)
c.4879G>C (p.Ala1627Pro)
c.4999G>C (p.Ala1667Pro)
c.4927G>C (p.Ala1643Pro)
c.1693G>C (p.Ala565Pro)
c.1555G>C (p.Ala519Pro)
c.4117G>C (p.Ala1373Pro)
c.4882G>C (p.Ala1628Pro)
c.5071G>C (p.Ala1691Pro)
c.4864G>C (p.Ala1622Pro)
c.1567G>C (p.Ala523Pro)
c.5068G>C (p.Ala1690Pro)
c.1392G>C
c.1579G>C (p.Ala527Pro)
c.*4788G>C (n.*4788G>C)
n.158G>C
c.1318G>C (p.Ala440Pro)
c.5-3726G>C (n.5-3726G>C)
c.478G>C (p.Ala160Pro)
c.-98-17487G>C (n.-98-17487G>C)
n.5141G>C
n.5182G>C
 ClinVar dbSNP
17g.43067677C>TCA053663BRCA1c.5002G>A (p.Ala1668Thr)
c.5005G>A (p.Ala1669Thr)
c.4879G>A (p.Ala1627Thr)
c.4999G>A (p.Ala1667Thr)
c.4927G>A (p.Ala1643Thr)
c.1693G>A (p.Ala565Thr)
c.1555G>A (p.Ala519Thr)
c.4117G>A (p.Ala1373Thr)
c.4882G>A (p.Ala1628Thr)
c.5071G>A (p.Ala1691Thr)
c.4864G>A (p.Ala1622Thr)
c.1567G>A (p.Ala523Thr)
c.5068G>A (p.Ala1690Thr)
c.1392G>A
c.1579G>A (p.Ala527Thr)
c.*4788G>A (n.*4788G>A)
n.158G>A
c.1318G>A (p.Ala440Thr)
c.5-3726G>A (n.5-3726G>A)
c.478G>A (p.Ala160Thr)
c.-98-17487G>A (n.-98-17487G>A)
n.5141G>A
n.5182G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43067678A=CA2260771397BRCA1c.5001T= (p.Phe1667=)
c.5004T= (p.Phe1668=)
c.4878T= (p.Phe1626=)
c.4998T= (p.Phe1666=)
c.4926T= (p.Phe1642=)
c.1692T= (p.Phe564=)
c.1554T= (p.Phe518=)
c.4116T= (p.Phe1372=)
c.4881T= (p.Phe1627=)
c.5070T= (p.Phe1690=)
c.4863T= (p.Phe1621=)
c.1566T= (p.Phe522=)
c.5067T= (p.Phe1689=)
c.1391T=
c.1578T= (p.Phe526=)
c.*4787T= (n.*4787T=)
n.157T=
c.1317T= (p.Phe439=)
c.5-3727T= (n.5-3727T=)
c.477T= (p.Phe159=)
c.-98-17488T= (n.-98-17488T=)
n.5140T=
n.5181T=
17g.43067678A>CCA10591510BRCA1c.5001T>G (p.Phe1667Leu)
c.5004T>G (p.Phe1668Leu)
c.4878T>G (p.Phe1626Leu)
c.4998T>G (p.Phe1666Leu)
c.4926T>G (p.Phe1642Leu)
c.1692T>G (p.Phe564Leu)
c.1554T>G (p.Phe518Leu)
c.4116T>G (p.Phe1372Leu)
c.4881T>G (p.Phe1627Leu)
c.5070T>G (p.Phe1690Leu)
c.4863T>G (p.Phe1621Leu)
c.1566T>G (p.Phe522Leu)
c.5067T>G (p.Phe1689Leu)
c.1391T>G
c.1578T>G (p.Phe526Leu)
c.*4787T>G (n.*4787T>G)
n.157T>G
c.1317T>G (p.Phe439Leu)
c.5-3727T>G (n.5-3727T>G)
c.477T>G (p.Phe159Leu)
c.-98-17488T>G (n.-98-17488T>G)
n.5140T>G
n.5181T>G
 ClinVar dbSNP
17g.43067678A>GCA500146388BRCA1c.5001T>C (p.Phe1667=)
c.5004T>C (p.Phe1668=)
c.4878T>C (p.Phe1626=)
c.4998T>C (p.Phe1666=)
c.4926T>C (p.Phe1642=)
c.1692T>C (p.Phe564=)
c.1554T>C (p.Phe518=)
c.4116T>C (p.Phe1372=)
c.4881T>C (p.Phe1627=)
c.5070T>C (p.Phe1690=)
c.4863T>C (p.Phe1621=)
c.1566T>C (p.Phe522=)
c.5067T>C (p.Phe1689=)
c.1391T>C
c.1578T>C (p.Phe526=)
c.*4787T>C (n.*4787T>C)
n.157T>C
c.1317T>C (p.Phe439=)
c.5-3727T>C (n.5-3727T>C)
c.477T>C (p.Phe159=)
c.-98-17488T>C (n.-98-17488T>C)
n.5140T>C
n.5181T>C
 ClinVar dbSNP
17g.43067678A>TCA10591511BRCA1c.5001T>A (p.Phe1667Leu)
c.5004T>A (p.Phe1668Leu)
c.4878T>A (p.Phe1626Leu)
c.4998T>A (p.Phe1666Leu)
c.4926T>A (p.Phe1642Leu)
c.1692T>A (p.Phe564Leu)
c.1554T>A (p.Phe518Leu)
c.4116T>A (p.Phe1372Leu)
c.4881T>A (p.Phe1627Leu)
c.5070T>A (p.Phe1690Leu)
c.4863T>A (p.Phe1621Leu)
c.1566T>A (p.Phe522Leu)
c.5067T>A (p.Phe1689Leu)
c.1391T>A
c.1578T>A (p.Phe526Leu)
c.*4787T>A (n.*4787T>A)
n.157T>A
c.1317T>A (p.Phe439Leu)
c.5-3727T>A (n.5-3727T>A)
c.477T>A (p.Phe159Leu)
c.-98-17488T>A (n.-98-17488T>A)
n.5140T>A
n.5181T>A
 ClinVar dbSNP
17g.43067680delCA2499224384BRCA1c.5001del (p.Phe1667LeufsTer9)
c.5004del (p.Phe1668LeufsTer9)
c.4878del (p.Phe1626LeufsTer9)
c.4998del (p.Phe1666LeufsTer9)
c.4926del (p.Phe1642LeufsTer9)
c.1692del (p.Phe564LeufsTer9)
c.1554del (p.Phe518LeufsTer9)
c.4116del (p.Phe1372LeufsTer9)
c.4881del (p.Phe1627LeufsTer9)
c.5070del (p.Phe1690LeufsTer9)
c.4863del (p.Phe1621LeufsTer9)
c.1566del (p.Phe522LeufsTer9)
c.5067del (p.Phe1689LeufsTer9)
c.1391del
c.1578del (p.Phe526LeufsTer9)
c.*4787del (n.*4787del)
n.157del
c.1317del (p.Phe439LeufsTer9)
c.5-3727del (n.5-3727del)
c.477del (p.Phe159LeufsTer9)
c.-98-17488del (n.-98-17488del)
n.5140del
n.5181del
17g.43067679A=CA2260771398BRCA1c.5000T= (p.Phe1667=)
c.5003T= (p.Phe1668=)
c.4877T= (p.Phe1626=)
c.4997T= (p.Phe1666=)
c.4925T= (p.Phe1642=)
c.1691T= (p.Phe564=)
c.1553T= (p.Phe518=)
c.4115T= (p.Phe1372=)
c.4880T= (p.Phe1627=)
c.5069T= (p.Phe1690=)
c.4862T= (p.Phe1621=)
c.1565T= (p.Phe522=)
c.5066T= (p.Phe1689=)
c.1390T=
c.1577T= (p.Phe526=)
c.*4786T= (n.*4786T=)
n.156T=
c.1316T= (p.Phe439=)
c.5-3728T= (n.5-3728T=)
c.476T= (p.Phe159=)
c.-98-17489T= (n.-98-17489T=)
n.5139T=
n.5180T=
17g.43067679A>CCA10591512BRCA1c.5000T>G (p.Phe1667Cys)
c.5003T>G (p.Phe1668Cys)
c.4877T>G (p.Phe1626Cys)
c.4997T>G (p.Phe1666Cys)
c.4925T>G (p.Phe1642Cys)
c.1691T>G (p.Phe564Cys)
c.1553T>G (p.Phe518Cys)
c.4115T>G (p.Phe1372Cys)
c.4880T>G (p.Phe1627Cys)
c.5069T>G (p.Phe1690Cys)
c.4862T>G (p.Phe1621Cys)
c.1565T>G (p.Phe522Cys)
c.5066T>G (p.Phe1689Cys)
c.1390T>G
c.1577T>G (p.Phe526Cys)
c.*4786T>G (n.*4786T>G)
n.156T>G
c.1316T>G (p.Phe439Cys)
c.5-3728T>G (n.5-3728T>G)
c.476T>G (p.Phe159Cys)
c.-98-17489T>G (n.-98-17489T>G)
n.5139T>G
n.5180T>G
 ClinVar dbSNP
17g.43067679A>GCA10591513BRCA1c.5000T>C (p.Phe1667Ser)
c.5003T>C (p.Phe1668Ser)
c.4877T>C (p.Phe1626Ser)
c.4997T>C (p.Phe1666Ser)
c.4925T>C (p.Phe1642Ser)
c.1691T>C (p.Phe564Ser)
c.1553T>C (p.Phe518Ser)
c.4115T>C (p.Phe1372Ser)
c.4880T>C (p.Phe1627Ser)
c.5069T>C (p.Phe1690Ser)
c.4862T>C (p.Phe1621Ser)
c.1565T>C (p.Phe522Ser)
c.5066T>C (p.Phe1689Ser)
c.1390T>C
c.1577T>C (p.Phe526Ser)
c.*4786T>C (n.*4786T>C)
n.156T>C
c.1316T>C (p.Phe439Ser)
c.5-3728T>C (n.5-3728T>C)
c.476T>C (p.Phe159Ser)
c.-98-17489T>C (n.-98-17489T>C)
n.5139T>C
n.5180T>C
 ClinVar dbSNP
17g.43067679A>TCA10591514BRCA1c.5000T>A (p.Phe1667Tyr)
c.5003T>A (p.Phe1668Tyr)
c.4877T>A (p.Phe1626Tyr)
c.4997T>A (p.Phe1666Tyr)
c.4925T>A (p.Phe1642Tyr)
c.1691T>A (p.Phe564Tyr)
c.1553T>A (p.Phe518Tyr)
c.4115T>A (p.Phe1372Tyr)
c.4880T>A (p.Phe1627Tyr)
c.5069T>A (p.Phe1690Tyr)
c.4862T>A (p.Phe1621Tyr)
c.1565T>A (p.Phe522Tyr)
c.5066T>A (p.Phe1689Tyr)
c.1390T>A
c.1577T>A (p.Phe526Tyr)
c.*4786T>A (n.*4786T>A)
n.156T>A
c.1316T>A (p.Phe439Tyr)
c.5-3728T>A (n.5-3728T>A)
c.476T>A (p.Phe159Tyr)
c.-98-17489T>A (n.-98-17489T>A)
n.5139T>A
n.5180T>A
 ClinVar dbSNP
17g.43067679_43067682dupCA2695225901BRCA1c.4997_5000dup (p.Phe1667LeufsTer12)
c.5000_5003dup (p.Phe1668LeufsTer12)
c.4874_4877dup (p.Phe1626LeufsTer12)
c.4994_4997dup (p.Phe1666LeufsTer12)
c.4922_4925dup (p.Phe1642LeufsTer12)
c.1688_1691dup (p.Phe564LeufsTer12)
c.1550_1553dup (p.Phe518LeufsTer12)
c.4112_4115dup (p.Phe1372LeufsTer12)
c.4877_4880dup (p.Phe1627LeufsTer12)
c.5066_5069dup (p.Phe1690LeufsTer12)
c.4859_4862dup (p.Phe1621LeufsTer12)
c.1562_1565dup (p.Phe522LeufsTer12)
c.5063_5066dup (p.Phe1689LeufsTer12)
c.1387_1390dup
c.1574_1577dup (p.Phe526LeufsTer12)
c.*4783_*4786dup (n.*4783_*4786dup)
n.153_156dup
c.1313_1316dup (p.Phe439LeufsTer12)
c.5-3731_5-3728dup (n.5-3731_5-3728dup)
c.473_476dup (p.Phe159LeufsTer12)
c.-98-17492_-98-17489dup (n.-98-17492_-98-17489dup)
n.5136_5139dup
n.5177_5180dup
17g.43067680A=CA2260771399BRCA1c.4999T= (p.Phe1667=)
c.5002T= (p.Phe1668=)
c.4876T= (p.Phe1626=)
c.4996T= (p.Phe1666=)
c.4924T= (p.Phe1642=)
c.1690T= (p.Phe564=)
c.1552T= (p.Phe518=)
c.4114T= (p.Phe1372=)
c.4879T= (p.Phe1627=)
c.5068T= (p.Phe1690=)
c.4861T= (p.Phe1621=)
c.1564T= (p.Phe522=)
c.5065T= (p.Phe1689=)
c.1389T=
c.1576T= (p.Phe526=)
c.*4785T= (n.*4785T=)
n.155T=
c.1315T= (p.Phe439=)
c.5-3729T= (n.5-3729T=)
c.475T= (p.Phe159=)
c.-98-17490T= (n.-98-17490T=)
n.5138T=
n.5179T=
17g.43067680A>CCA10591515BRCA1c.4999T>G (p.Phe1667Val)
c.5002T>G (p.Phe1668Val)
c.4876T>G (p.Phe1626Val)
c.4996T>G (p.Phe1666Val)
c.4924T>G (p.Phe1642Val)
c.1690T>G (p.Phe564Val)
c.1552T>G (p.Phe518Val)
c.4114T>G (p.Phe1372Val)
c.4879T>G (p.Phe1627Val)
c.5068T>G (p.Phe1690Val)
c.4861T>G (p.Phe1621Val)
c.1564T>G (p.Phe522Val)
c.5065T>G (p.Phe1689Val)
c.1389T>G
c.1576T>G (p.Phe526Val)
c.*4785T>G (n.*4785T>G)
n.155T>G
c.1315T>G (p.Phe439Val)
c.5-3729T>G (n.5-3729T>G)
c.475T>G (p.Phe159Val)
c.-98-17490T>G (n.-98-17490T>G)
n.5138T>G
n.5179T>G
 ClinVar dbSNP
17g.43067680A>GCA10591516BRCA1c.4999T>C (p.Phe1667Leu)
c.5002T>C (p.Phe1668Leu)
c.4876T>C (p.Phe1626Leu)
c.4996T>C (p.Phe1666Leu)
c.4924T>C (p.Phe1642Leu)
c.1690T>C (p.Phe564Leu)
c.1552T>C (p.Phe518Leu)
c.4114T>C (p.Phe1372Leu)
c.4879T>C (p.Phe1627Leu)
c.5068T>C (p.Phe1690Leu)
c.4861T>C (p.Phe1621Leu)
c.1564T>C (p.Phe522Leu)
c.5065T>C (p.Phe1689Leu)
c.1389T>C
c.1576T>C (p.Phe526Leu)
c.*4785T>C (n.*4785T>C)
n.155T>C
c.1315T>C (p.Phe439Leu)
c.5-3729T>C (n.5-3729T>C)
c.475T>C (p.Phe159Leu)
c.-98-17490T>C (n.-98-17490T>C)
n.5138T>C
n.5179T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43067680A>TCA003150BRCA1c.4999T>A (p.Phe1667Ile)
c.5002T>A (p.Phe1668Ile)
c.4876T>A (p.Phe1626Ile)
c.4996T>A (p.Phe1666Ile)
c.4924T>A (p.Phe1642Ile)
c.1690T>A (p.Phe564Ile)
c.1552T>A (p.Phe518Ile)
c.4114T>A (p.Phe1372Ile)
c.4879T>A (p.Phe1627Ile)
c.5068T>A (p.Phe1690Ile)
c.4861T>A (p.Phe1621Ile)
c.1564T>A (p.Phe522Ile)
c.5065T>A (p.Phe1689Ile)
c.1389T>A
c.1576T>A (p.Phe526Ile)
c.*4785T>A (n.*4785T>A)
n.155T>A
c.1315T>A (p.Phe439Ile)
c.5-3729T>A (n.5-3729T>A)
c.475T>A (p.Phe159Ile)
c.-98-17490T>A (n.-98-17490T>A)
n.5138T>A
n.5179T>A
 ClinVar dbSNP
17g.43067681C>ACA10591517BRCA1c.4998G>T (p.Lys1666Asn)
c.5001G>T (p.Lys1667Asn)
c.4875G>T (p.Lys1625Asn)
c.4995G>T (p.Lys1665Asn)
c.4923G>T (p.Lys1641Asn)
c.1689G>T (p.Lys563Asn)
c.1551G>T (p.Lys517Asn)
c.4113G>T (p.Lys1371Asn)
c.4878G>T (p.Lys1626Asn)
c.5067G>T (p.Lys1689Asn)
c.4860G>T (p.Lys1620Asn)
c.1563G>T (p.Lys521Asn)
c.5064G>T (p.Lys1688Asn)
c.1388G>T
c.1575G>T (p.Lys525Asn)
c.*4784G>T (n.*4784G>T)
n.154G>T
c.1314G>T (p.Lys438Asn)
c.5-3730G>T (n.5-3730G>T)
c.474G>T (p.Lys158Asn)
c.-98-17491G>T (n.-98-17491G>T)
n.5137G>T
n.5178G>T
 ClinVar dbSNP
17g.43067681C=CA2260771400BRCA1c.4998G= (p.Lys1666=)
c.5001G= (p.Lys1667=)
c.4875G= (p.Lys1625=)
c.4995G= (p.Lys1665=)
c.4923G= (p.Lys1641=)
c.1689G= (p.Lys563=)
c.1551G= (p.Lys517=)
c.4113G= (p.Lys1371=)
c.4878G= (p.Lys1626=)
c.5067G= (p.Lys1689=)
c.4860G= (p.Lys1620=)
c.1563G= (p.Lys521=)
c.5064G= (p.Lys1688=)
c.1388G=
c.1575G= (p.Lys525=)
c.*4784G= (n.*4784G=)
n.154G=
c.1314G= (p.Lys438=)
c.5-3730G= (n.5-3730G=)
c.474G= (p.Lys158=)
c.-98-17491G= (n.-98-17491G=)
n.5137G=
n.5178G=
17g.43067681C>GCA10591518BRCA1c.4998G>C (p.Lys1666Asn)
c.5001G>C (p.Lys1667Asn)
c.4875G>C (p.Lys1625Asn)
c.4995G>C (p.Lys1665Asn)
c.4923G>C (p.Lys1641Asn)
c.1689G>C (p.Lys563Asn)
c.1551G>C (p.Lys517Asn)
c.4113G>C (p.Lys1371Asn)
c.4878G>C (p.Lys1626Asn)
c.5067G>C (p.Lys1689Asn)
c.4860G>C (p.Lys1620Asn)
c.1563G>C (p.Lys521Asn)
c.5064G>C (p.Lys1688Asn)
c.1388G>C
c.1575G>C (p.Lys525Asn)
c.*4784G>C (n.*4784G>C)
n.154G>C
c.1314G>C (p.Lys438Asn)
c.5-3730G>C (n.5-3730G>C)
c.474G>C (p.Lys158Asn)
c.-98-17491G>C (n.-98-17491G>C)
n.5137G>C
n.5178G>C
 ClinVar dbSNP
17g.43067681C>TCA290827874BRCA1c.4998G>A (p.Lys1666=)
c.5001G>A (p.Lys1667=)
c.4875G>A (p.Lys1625=)
c.4995G>A (p.Lys1665=)
c.4923G>A (p.Lys1641=)
c.1689G>A (p.Lys563=)
c.1551G>A (p.Lys517=)
c.4113G>A (p.Lys1371=)
c.4878G>A (p.Lys1626=)
c.5067G>A (p.Lys1689=)
c.4860G>A (p.Lys1620=)
c.1563G>A (p.Lys521=)
c.5064G>A (p.Lys1688=)
c.1388G>A
c.1575G>A (p.Lys525=)
c.*4784G>A (n.*4784G>A)
n.154G>A
c.1314G>A (p.Lys438=)
c.5-3730G>A (n.5-3730G>A)
c.474G>A (p.Lys158=)
c.-98-17491G>A (n.-98-17491G>A)
n.5137G>A
n.5178G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43067681dupCA1139532535BRCA1c.4998dup (p.Phe1667ValfsTer11)
c.5001dup (p.Phe1668ValfsTer11)
c.4875dup (p.Phe1626ValfsTer11)
c.4995dup (p.Phe1666ValfsTer11)
c.4923dup (p.Phe1642ValfsTer11)
c.1689dup (p.Phe564ValfsTer11)
c.1551dup (p.Phe518ValfsTer11)
c.4113dup (p.Phe1372ValfsTer11)
c.4878dup (p.Phe1627ValfsTer11)
c.5067dup (p.Phe1690ValfsTer11)
c.4860dup (p.Phe1621ValfsTer11)
c.1563dup (p.Phe522ValfsTer11)
c.5064dup (p.Phe1689ValfsTer11)
c.1388dup
c.1575dup (p.Phe526ValfsTer11)
c.*4784dup (n.*4784dup)
n.154dup
c.1314dup (p.Phe439ValfsTer11)
c.5-3730dup (n.5-3730dup)
c.474dup (p.Phe159ValfsTer11)
c.-98-17491dup (n.-98-17491dup)
n.5137dup
n.5178dup
17g.43067682T>ACA10591519BRCA1c.4997A>T (p.Lys1666Met)
c.5000A>T (p.Lys1667Met)
c.4874A>T (p.Lys1625Met)
c.4994A>T (p.Lys1665Met)
c.4922A>T (p.Lys1641Met)
c.1688A>T (p.Lys563Met)
c.1550A>T (p.Lys517Met)
c.4112A>T (p.Lys1371Met)
c.4877A>T (p.Lys1626Met)
c.5066A>T (p.Lys1689Met)
c.4859A>T (p.Lys1620Met)
c.1562A>T (p.Lys521Met)
c.5063A>T (p.Lys1688Met)
c.1387A>T
c.1574A>T (p.Lys525Met)
c.*4783A>T (n.*4783A>T)
n.153A>T
c.1313A>T (p.Lys438Met)
c.5-3731A>T (n.5-3731A>T)
c.473A>T (p.Lys158Met)
c.-98-17492A>T (n.-98-17492A>T)
n.5136A>T
n.5177A>T
 ClinVar dbSNP
17g.43067682T>CCA10591520BRCA1c.4997A>G (p.Lys1666Arg)
c.5000A>G (p.Lys1667Arg)
c.4874A>G (p.Lys1625Arg)
c.4994A>G (p.Lys1665Arg)
c.4922A>G (p.Lys1641Arg)
c.1688A>G (p.Lys563Arg)
c.1550A>G (p.Lys517Arg)
c.4112A>G (p.Lys1371Arg)
c.4877A>G (p.Lys1626Arg)
c.5066A>G (p.Lys1689Arg)
c.4859A>G (p.Lys1620Arg)
c.1562A>G (p.Lys521Arg)
c.5063A>G (p.Lys1688Arg)
c.1387A>G
c.1574A>G (p.Lys525Arg)
c.*4783A>G (n.*4783A>G)
n.153A>G
c.1313A>G (p.Lys438Arg)
c.5-3731A>G (n.5-3731A>G)
c.473A>G (p.Lys158Arg)
c.-98-17492A>G (n.-98-17492A>G)
n.5136A>G
n.5177A>G
 ClinVar dbSNP gnomAD v4
17g.43067682T>GCA10591521BRCA1c.4997A>C (p.Lys1666Thr)
c.5000A>C (p.Lys1667Thr)
c.4874A>C (p.Lys1625Thr)
c.4994A>C (p.Lys1665Thr)
c.4922A>C (p.Lys1641Thr)
c.1688A>C (p.Lys563Thr)
c.1550A>C (p.Lys517Thr)
c.4112A>C (p.Lys1371Thr)
c.4877A>C (p.Lys1626Thr)
c.5066A>C (p.Lys1689Thr)
c.4859A>C (p.Lys1620Thr)
c.1562A>C (p.Lys521Thr)
c.5063A>C (p.Lys1688Thr)
c.1387A>C
c.1574A>C (p.Lys525Thr)
c.*4783A>C (n.*4783A>C)
n.153A>C
c.1313A>C (p.Lys438Thr)
c.5-3731A>C (n.5-3731A>C)
c.473A>C (p.Lys158Thr)
c.-98-17492A>C (n.-98-17492A>C)
n.5136A>C
n.5177A>C
 ClinVar dbSNP COSMIC COSMIC
17g.43067682T=CA2260771401BRCA1c.4997A= (p.Lys1666=)
c.5000A= (p.Lys1667=)
c.4874A= (p.Lys1625=)
c.4994A= (p.Lys1665=)
c.4922A= (p.Lys1641=)
c.1688A= (p.Lys563=)
c.1550A= (p.Lys517=)
c.4112A= (p.Lys1371=)
c.4877A= (p.Lys1626=)
c.5066A= (p.Lys1689=)
c.4859A= (p.Lys1620=)
c.1562A= (p.Lys521=)
c.5063A= (p.Lys1688=)
c.1387A=
c.1574A= (p.Lys525=)
c.*4783A= (n.*4783A=)
n.153A=
c.1313A= (p.Lys438=)
c.5-3731A= (n.5-3731A=)
c.473A= (p.Lys158=)
c.-98-17492A= (n.-98-17492A=)
n.5136A=
n.5177A=
17g.43067683T>ACA003149BRCA1c.4996A>T (p.Lys1666Ter)
c.4999A>T (p.Lys1667Ter)
c.4873A>T (p.Lys1625Ter)
c.4993A>T (p.Lys1665Ter)
c.4921A>T (p.Lys1641Ter)
c.1687A>T (p.Lys563Ter)
c.1549A>T (p.Lys517Ter)
c.4111A>T (p.Lys1371Ter)
c.4876A>T (p.Lys1626Ter)
c.5065A>T (p.Lys1689Ter)
c.4858A>T (p.Lys1620Ter)
c.1561A>T (p.Lys521Ter)
c.5062A>T (p.Lys1688Ter)
c.1386A>T
c.1573A>T (p.Lys525Ter)
c.*4782A>T (n.*4782A>T)
n.152A>T
c.1312A>T (p.Lys438Ter)
c.5-3732A>T (n.5-3732A>T)
c.472A>T (p.Lys158Ter)
c.-98-17493A>T (n.-98-17493A>T)
n.5135A>T
n.5176A>T
 ClinVar dbSNP
17g.43067683T>CCA10591522BRCA1c.4996A>G (p.Lys1666Glu)
c.4999A>G (p.Lys1667Glu)
c.4873A>G (p.Lys1625Glu)
c.4993A>G (p.Lys1665Glu)
c.4921A>G (p.Lys1641Glu)
c.1687A>G (p.Lys563Glu)
c.1549A>G (p.Lys517Glu)
c.4111A>G (p.Lys1371Glu)
c.4876A>G (p.Lys1626Glu)
c.5065A>G (p.Lys1689Glu)
c.4858A>G (p.Lys1620Glu)
c.1561A>G (p.Lys521Glu)
c.5062A>G (p.Lys1688Glu)
c.1386A>G
c.1573A>G (p.Lys525Glu)
c.*4782A>G (n.*4782A>G)
n.152A>G
c.1312A>G (p.Lys438Glu)
c.5-3732A>G (n.5-3732A>G)
c.472A>G (p.Lys158Glu)
c.-98-17493A>G (n.-98-17493A>G)
n.5135A>G
n.5176A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43067683T>GCA10591523BRCA1c.4996A>C (p.Lys1666Gln)
c.4999A>C (p.Lys1667Gln)
c.4873A>C (p.Lys1625Gln)
c.4993A>C (p.Lys1665Gln)
c.4921A>C (p.Lys1641Gln)
c.1687A>C (p.Lys563Gln)
c.1549A>C (p.Lys517Gln)
c.4111A>C (p.Lys1371Gln)
c.4876A>C (p.Lys1626Gln)
c.5065A>C (p.Lys1689Gln)
c.4858A>C (p.Lys1620Gln)
c.1561A>C (p.Lys521Gln)
c.5062A>C (p.Lys1688Gln)
c.1386A>C
c.1573A>C (p.Lys525Gln)
c.*4782A>C (n.*4782A>C)
n.152A>C
c.1312A>C (p.Lys438Gln)
c.5-3732A>C (n.5-3732A>C)
c.472A>C (p.Lys158Gln)
c.-98-17493A>C (n.-98-17493A>C)
n.5135A>C
n.5176A>C
 ClinVar dbSNP
17g.43067683T=CA2260771402BRCA1c.4996A= (p.Lys1666=)
c.4999A= (p.Lys1667=)
c.4873A= (p.Lys1625=)
c.4993A= (p.Lys1665=)
c.4921A= (p.Lys1641=)
c.1687A= (p.Lys563=)
c.1549A= (p.Lys517=)
c.4111A= (p.Lys1371=)
c.4876A= (p.Lys1626=)
c.5065A= (p.Lys1689=)
c.4858A= (p.Lys1620=)
c.1561A= (p.Lys521=)
c.5062A= (p.Lys1688=)
c.1386A=
c.1573A= (p.Lys525=)
c.*4782A= (n.*4782A=)
n.152A=
c.1312A= (p.Lys438=)
c.5-3732A= (n.5-3732A=)
c.472A= (p.Lys158=)
c.-98-17493A= (n.-98-17493A=)
n.5135A=
n.5176A=
17g.43067684G>ACA003147BRCA1c.4995C>T (p.Tyr1665=)
c.4998C>T (p.Tyr1666=)
c.4872C>T (p.Tyr1624=)
c.4992C>T (p.Tyr1664=)
c.4920C>T (p.Tyr1640=)
c.1686C>T (p.Tyr562=)
c.1548C>T (p.Tyr516=)
c.4110C>T (p.Tyr1370=)
c.4875C>T (p.Tyr1625=)
c.5064C>T (p.Tyr1688=)
c.4857C>T (p.Tyr1619=)
c.1560C>T (p.Tyr520=)
c.5061C>T (p.Tyr1687=)
c.1385C>T
c.1572C>T (p.Tyr524=)
c.*4781C>T (n.*4781C>T)
n.151C>T
c.1311C>T (p.Tyr437=)
c.5-3733C>T (n.5-3733C>T)
c.471C>T (p.Tyr157=)
c.-98-17494C>T (n.-98-17494C>T)
n.5134C>T
n.5175C>T
 ClinVar dbSNP gnomAD v4
17g.43067684G>CCA10591524BRCA1c.4995C>G (p.Tyr1665Ter)
c.4998C>G (p.Tyr1666Ter)
c.4872C>G (p.Tyr1624Ter)
c.4992C>G (p.Tyr1664Ter)
c.4920C>G (p.Tyr1640Ter)
c.1686C>G (p.Tyr562Ter)
c.1548C>G (p.Tyr516Ter)
c.4110C>G (p.Tyr1370Ter)
c.4875C>G (p.Tyr1625Ter)
c.5064C>G (p.Tyr1688Ter)
c.4857C>G (p.Tyr1619Ter)
c.1560C>G (p.Tyr520Ter)
c.5061C>G (p.Tyr1687Ter)
c.1385C>G
c.1572C>G (p.Tyr524Ter)
c.*4781C>G (n.*4781C>G)
n.151C>G
c.1311C>G (p.Tyr437Ter)
c.5-3733C>G (n.5-3733C>G)
c.471C>G (p.Tyr157Ter)
c.-98-17494C>G (n.-98-17494C>G)
n.5134C>G
n.5175C>G
 ClinVar dbSNP
17g.43067684G=CA2260771403BRCA1c.4995C= (p.Tyr1665=)
c.4998C= (p.Tyr1666=)
c.4872C= (p.Tyr1624=)
c.4992C= (p.Tyr1664=)
c.4920C= (p.Tyr1640=)
c.1686C= (p.Tyr562=)
c.1548C= (p.Tyr516=)
c.4110C= (p.Tyr1370=)
c.4875C= (p.Tyr1625=)
c.5064C= (p.Tyr1688=)
c.4857C= (p.Tyr1619=)
c.1560C= (p.Tyr520=)
c.5061C= (p.Tyr1687=)
c.1385C=
c.1572C= (p.Tyr524=)
c.*4781C= (n.*4781C=)
n.151C=
c.1311C= (p.Tyr437=)
c.5-3733C= (n.5-3733C=)
c.471C= (p.Tyr157=)
c.-98-17494C= (n.-98-17494C=)
n.5134C=
n.5175C=
17g.43067684G>TCA003146BRCA1c.4995C>A (p.Tyr1665Ter)
c.4998C>A (p.Tyr1666Ter)
c.4872C>A (p.Tyr1624Ter)
c.4992C>A (p.Tyr1664Ter)
c.4920C>A (p.Tyr1640Ter)
c.1686C>A (p.Tyr562Ter)
c.1548C>A (p.Tyr516Ter)
c.4110C>A (p.Tyr1370Ter)
c.4875C>A (p.Tyr1625Ter)
c.5064C>A (p.Tyr1688Ter)
c.4857C>A (p.Tyr1619Ter)
c.1560C>A (p.Tyr520Ter)
c.5061C>A (p.Tyr1687Ter)
c.1385C>A
c.1572C>A (p.Tyr524Ter)
c.*4781C>A (n.*4781C>A)
n.151C>A
c.1311C>A (p.Tyr437Ter)
c.5-3733C>A (n.5-3733C>A)
c.471C>A (p.Tyr157Ter)
c.-98-17494C>A (n.-98-17494C>A)
n.5134C>A
n.5175C>A
 ClinVar dbSNP
17g.43067685T>ACA10591525BRCA1c.4994A>T (p.Tyr1665Phe)
c.4997A>T (p.Tyr1666Phe)
c.4871A>T (p.Tyr1624Phe)
c.4991A>T (p.Tyr1664Phe)
c.4919A>T (p.Tyr1640Phe)
c.1685A>T (p.Tyr562Phe)
c.1547A>T (p.Tyr516Phe)
c.4109A>T (p.Tyr1370Phe)
c.4874A>T (p.Tyr1625Phe)
c.5063A>T (p.Tyr1688Phe)
c.4856A>T (p.Tyr1619Phe)
c.1559A>T (p.Tyr520Phe)
c.5060A>T (p.Tyr1687Phe)
c.1384A>T
c.1571A>T (p.Tyr524Phe)
c.*4780A>T (n.*4780A>T)
n.150A>T
c.1310A>T (p.Tyr437Phe)
c.5-3734A>T (n.5-3734A>T)
c.470A>T (p.Tyr157Phe)
c.-98-17495A>T (n.-98-17495A>T)
n.5133A>T
n.5174A>T
 ClinVar dbSNP
17g.43067685T>CCA003145BRCA1c.4994A>G (p.Tyr1665Cys)
c.4997A>G (p.Tyr1666Cys)
c.4871A>G (p.Tyr1624Cys)
c.4991A>G (p.Tyr1664Cys)
c.4919A>G (p.Tyr1640Cys)
c.1685A>G (p.Tyr562Cys)
c.1547A>G (p.Tyr516Cys)
c.4109A>G (p.Tyr1370Cys)
c.4874A>G (p.Tyr1625Cys)
c.5063A>G (p.Tyr1688Cys)
c.4856A>G (p.Tyr1619Cys)
c.1559A>G (p.Tyr520Cys)
c.5060A>G (p.Tyr1687Cys)
c.1384A>G
c.1571A>G (p.Tyr524Cys)
c.*4780A>G (n.*4780A>G)
n.150A>G
c.1310A>G (p.Tyr437Cys)
c.5-3734A>G (n.5-3734A>G)
c.470A>G (p.Tyr157Cys)
c.-98-17495A>G (n.-98-17495A>G)
n.5133A>G
n.5174A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43067685T>GCA10591526BRCA1c.4994A>C (p.Tyr1665Ser)
c.4997A>C (p.Tyr1666Ser)
c.4871A>C (p.Tyr1624Ser)
c.4991A>C (p.Tyr1664Ser)
c.4919A>C (p.Tyr1640Ser)
c.1685A>C (p.Tyr562Ser)
c.1547A>C (p.Tyr516Ser)
c.4109A>C (p.Tyr1370Ser)
c.4874A>C (p.Tyr1625Ser)
c.5063A>C (p.Tyr1688Ser)
c.4856A>C (p.Tyr1619Ser)
c.1559A>C (p.Tyr520Ser)
c.5060A>C (p.Tyr1687Ser)
c.1384A>C
c.1571A>C (p.Tyr524Ser)
c.*4780A>C (n.*4780A>C)
n.150A>C
c.1310A>C (p.Tyr437Ser)
c.5-3734A>C (n.5-3734A>C)
c.470A>C (p.Tyr157Ser)
c.-98-17495A>C (n.-98-17495A>C)
n.5133A>C
n.5174A>C
 ClinVar dbSNP
17g.43067685T=CA2260771404BRCA1c.4994A= (p.Tyr1665=)
c.4997A= (p.Tyr1666=)
c.4871A= (p.Tyr1624=)
c.4991A= (p.Tyr1664=)
c.4919A= (p.Tyr1640=)
c.1685A= (p.Tyr562=)
c.1547A= (p.Tyr516=)
c.4109A= (p.Tyr1370=)
c.4874A= (p.Tyr1625=)
c.5063A= (p.Tyr1688=)
c.4856A= (p.Tyr1619=)
c.1559A= (p.Tyr520=)
c.5060A= (p.Tyr1687=)
c.1384A=
c.1571A= (p.Tyr524=)
c.*4780A= (n.*4780A=)
n.150A=
c.1310A= (p.Tyr437=)
c.5-3734A= (n.5-3734A=)
c.470A= (p.Tyr157=)
c.-98-17495A= (n.-98-17495A=)
n.5133A=
n.5174A=
17g.43067685dupCA10580503BRCA1c.4994dup (p.Tyr1665Ter)
c.4997dup (p.Tyr1666Ter)
c.4871dup (p.Tyr1624Ter)
c.4991dup (p.Tyr1664Ter)
c.4919dup (p.Tyr1640Ter)
c.1685dup (p.Tyr562Ter)
c.1547dup (p.Tyr516Ter)
c.4109dup (p.Tyr1370Ter)
c.4874dup (p.Tyr1625Ter)
c.5063dup (p.Tyr1688Ter)
c.4856dup (p.Tyr1619Ter)
c.1559dup (p.Tyr520Ter)
c.5060dup (p.Tyr1687Ter)
c.1384dup
c.1571dup (p.Tyr524Ter)
c.*4780dup (n.*4780dup)
n.150dup
c.1310dup (p.Tyr437Ter)
c.5-3734dup (n.5-3734dup)
c.470dup (p.Tyr157Ter)
c.-98-17495dup (n.-98-17495dup)
n.5133dup
n.5174dup
 ClinVar dbSNP gnomAD v4
17g.43067685_43067686dupCA16615378BRCA1c.4993_4994dup (p.Lys1666ThrfsTer11)
c.4996_4997dup (p.Lys1667ThrfsTer11)
c.4870_4871dup (p.Lys1625ThrfsTer11)
c.4990_4991dup (p.Lys1665ThrfsTer11)
c.4918_4919dup (p.Lys1641ThrfsTer11)
c.1684_1685dup (p.Lys563ThrfsTer11)
c.1546_1547dup (p.Lys517ThrfsTer11)
c.4108_4109dup (p.Lys1371ThrfsTer11)
c.4873_4874dup (p.Lys1626ThrfsTer11)
c.5062_5063dup (p.Lys1689ThrfsTer11)
c.4855_4856dup (p.Lys1620ThrfsTer11)
c.1558_1559dup (p.Lys521ThrfsTer11)
c.5059_5060dup (p.Lys1688ThrfsTer11)
c.1383_1384dup
c.1570_1571dup (p.Lys525ThrfsTer11)
c.*4779_*4780dup (n.*4779_*4780dup)
n.149_150dup
c.1309_1310dup (p.Lys438ThrfsTer11)
c.5-3735_5-3734dup (n.5-3735_5-3734dup)
c.469_470dup (p.Lys158ThrfsTer11)
c.-98-17496_-98-17495dup (n.-98-17496_-98-17495dup)
n.5132_5133dup
n.5173_5174dup
 ClinVar dbSNP
17g.43067686A=CA2260771405BRCA1c.4993T= (p.Tyr1665=)
c.4996T= (p.Tyr1666=)
c.4870T= (p.Tyr1624=)
c.4990T= (p.Tyr1664=)
c.4918T= (p.Tyr1640=)
c.1684T= (p.Tyr562=)
c.1546T= (p.Tyr516=)
c.4108T= (p.Tyr1370=)
c.4873T= (p.Tyr1625=)
c.5062T= (p.Tyr1688=)
c.4855T= (p.Tyr1619=)
c.1558T= (p.Tyr520=)
c.5059T= (p.Tyr1687=)
c.1383T=
c.1570T= (p.Tyr524=)
c.*4779T= (n.*4779T=)
n.149T=
c.1309T= (p.Tyr437=)
c.5-3735T= (n.5-3735T=)
c.469T= (p.Tyr157=)
c.-98-17496T= (n.-98-17496T=)
n.5132T=
n.5173T=
17g.43067686A>CCA10591527BRCA1c.4993T>G (p.Tyr1665Asp)
c.4996T>G (p.Tyr1666Asp)
c.4870T>G (p.Tyr1624Asp)
c.4990T>G (p.Tyr1664Asp)
c.4918T>G (p.Tyr1640Asp)
c.1684T>G (p.Tyr562Asp)
c.1546T>G (p.Tyr516Asp)
c.4108T>G (p.Tyr1370Asp)
c.4873T>G (p.Tyr1625Asp)
c.5062T>G (p.Tyr1688Asp)
c.4855T>G (p.Tyr1619Asp)
c.1558T>G (p.Tyr520Asp)
c.5059T>G (p.Tyr1687Asp)
c.1383T>G
c.1570T>G (p.Tyr524Asp)
c.*4779T>G (n.*4779T>G)
n.149T>G
c.1309T>G (p.Tyr437Asp)
c.5-3735T>G (n.5-3735T>G)
c.469T>G (p.Tyr157Asp)
c.-98-17496T>G (n.-98-17496T>G)
n.5132T>G
n.5173T>G
 ClinVar dbSNP
17g.43067686A>GCA003144BRCA1c.4993T>C (p.Tyr1665His)
c.4996T>C (p.Tyr1666His)
c.4870T>C (p.Tyr1624His)
c.4990T>C (p.Tyr1664His)
c.4918T>C (p.Tyr1640His)
c.1684T>C (p.Tyr562His)
c.1546T>C (p.Tyr516His)
c.4108T>C (p.Tyr1370His)
c.4873T>C (p.Tyr1625His)
c.5062T>C (p.Tyr1688His)
c.4855T>C (p.Tyr1619His)
c.1558T>C (p.Tyr520His)
c.5059T>C (p.Tyr1687His)
c.1383T>C
c.1570T>C (p.Tyr524His)
c.*4779T>C (n.*4779T>C)
n.149T>C
c.1309T>C (p.Tyr437His)
c.5-3735T>C (n.5-3735T>C)
c.469T>C (p.Tyr157His)
c.-98-17496T>C (n.-98-17496T>C)
n.5132T>C
n.5173T>C
 ClinVar dbSNP
17g.43067686A>TCA10591528BRCA1c.4993T>A (p.Tyr1665Asn)
c.4996T>A (p.Tyr1666Asn)
c.4870T>A (p.Tyr1624Asn)
c.4990T>A (p.Tyr1664Asn)
c.4918T>A (p.Tyr1640Asn)
c.1684T>A (p.Tyr562Asn)
c.1546T>A (p.Tyr516Asn)
c.4108T>A (p.Tyr1370Asn)
c.4873T>A (p.Tyr1625Asn)
c.5062T>A (p.Tyr1688Asn)
c.4855T>A (p.Tyr1619Asn)
c.1558T>A (p.Tyr520Asn)
c.5059T>A (p.Tyr1687Asn)
c.1383T>A
c.1570T>A (p.Tyr524Asn)
c.*4779T>A (n.*4779T>A)
n.149T>A
c.1309T>A (p.Tyr437Asn)
c.5-3735T>A (n.5-3735T>A)
c.469T>A (p.Tyr157Asn)
c.-98-17496T>A (n.-98-17496T>A)
n.5132T>A
n.5173T>A
 ClinVar dbSNP
17g.43067687C>ACA500146394BRCA1c.4992G>T (p.Val1664=)
c.4995G>T (p.Val1665=)
c.4869G>T (p.Val1623=)
c.4989G>T (p.Val1663=)
c.4917G>T (p.Val1639=)
c.1683G>T (p.Val561=)
c.1545G>T (p.Val515=)
c.4107G>T (p.Val1369=)
c.4872G>T (p.Val1624=)
c.5061G>T (p.Val1687=)
c.4854G>T (p.Val1618=)
c.1557G>T (p.Val519=)
c.5058G>T (p.Val1686=)
c.1382G>T
c.1569G>T (p.Val523=)
c.*4778G>T (n.*4778G>T)
n.148G>T
c.1308G>T (p.Val436=)
c.5-3736G>T (n.5-3736G>T)
c.468G>T (p.Val156=)
c.-98-17497G>T (n.-98-17497G>T)
n.5131G>T
n.5172G>T
 ClinVar dbSNP
17g.43067687C=CA2260771406BRCA1c.4992G= (p.Val1664=)
c.4995G= (p.Val1665=)
c.4869G= (p.Val1623=)
c.4989G= (p.Val1663=)
c.4917G= (p.Val1639=)
c.1683G= (p.Val561=)
c.1545G= (p.Val515=)
c.4107G= (p.Val1369=)
c.4872G= (p.Val1624=)
c.5061G= (p.Val1687=)
c.4854G= (p.Val1618=)
c.1557G= (p.Val519=)
c.5058G= (p.Val1686=)
c.1382G=
c.1569G= (p.Val523=)
c.*4778G= (n.*4778G=)
n.148G=
c.1308G= (p.Val436=)
c.5-3736G= (n.5-3736G=)
c.468G= (p.Val156=)
c.-98-17497G= (n.-98-17497G=)
n.5131G=
n.5172G=
17g.43067687C>GCA500146395BRCA1c.4992G>C (p.Val1664=)
c.4995G>C (p.Val1665=)
c.4869G>C (p.Val1623=)
c.4989G>C (p.Val1663=)
c.4917G>C (p.Val1639=)
c.1683G>C (p.Val561=)
c.1545G>C (p.Val515=)
c.4107G>C (p.Val1369=)
c.4872G>C (p.Val1624=)
c.5061G>C (p.Val1687=)
c.4854G>C (p.Val1618=)
c.1557G>C (p.Val519=)
c.5058G>C (p.Val1686=)
c.1382G>C
c.1569G>C (p.Val523=)
c.*4778G>C (n.*4778G>C)
n.148G>C
c.1308G>C (p.Val436=)
c.5-3736G>C (n.5-3736G>C)
c.468G>C (p.Val156=)
c.-98-17497G>C (n.-98-17497G>C)
n.5131G>C
n.5172G>C
 ClinVar dbSNP
17g.43067687C>TCA500146396BRCA1c.4992G>A (p.Val1664=)
c.4995G>A (p.Val1665=)
c.4869G>A (p.Val1623=)
c.4989G>A (p.Val1663=)
c.4917G>A (p.Val1639=)
c.1683G>A (p.Val561=)
c.1545G>A (p.Val515=)
c.4107G>A (p.Val1369=)
c.4872G>A (p.Val1624=)
c.5061G>A (p.Val1687=)
c.4854G>A (p.Val1618=)
c.1557G>A (p.Val519=)
c.5058G>A (p.Val1686=)
c.1382G>A
c.1569G>A (p.Val523=)
c.*4778G>A (n.*4778G>A)
n.148G>A
c.1308G>A (p.Val436=)
c.5-3736G>A (n.5-3736G>A)
c.468G>A (p.Val156=)
c.-98-17497G>A (n.-98-17497G>A)
n.5131G>A
n.5172G>A
 ClinVar dbSNP
17g.43067688A=CA2260771407BRCA1c.4991T= (p.Val1664=)
c.4994T= (p.Val1665=)
c.4868T= (p.Val1623=)
c.4988T= (p.Val1663=)
c.4916T= (p.Val1639=)
c.1682T= (p.Val561=)
c.1544T= (p.Val515=)
c.4106T= (p.Val1369=)
c.4871T= (p.Val1624=)
c.5060T= (p.Val1687=)
c.4853T= (p.Val1618=)
c.1556T= (p.Val519=)
c.5057T= (p.Val1686=)
c.1381T=
c.1568T= (p.Val523=)
c.*4777T= (n.*4777T=)
n.147T=
c.1307T= (p.Val436=)
c.5-3737T= (n.5-3737T=)
c.467T= (p.Val156=)
c.-98-17498T= (n.-98-17498T=)
n.5130T=
n.5171T=
17g.43067688A>CCA10591529BRCA1c.4991T>G (p.Val1664Gly)
c.4994T>G (p.Val1665Gly)
c.4868T>G (p.Val1623Gly)
c.4988T>G (p.Val1663Gly)
c.4916T>G (p.Val1639Gly)
c.1682T>G (p.Val561Gly)
c.1544T>G (p.Val515Gly)
c.4106T>G (p.Val1369Gly)
c.4871T>G (p.Val1624Gly)
c.5060T>G (p.Val1687Gly)
c.4853T>G (p.Val1618Gly)
c.1556T>G (p.Val519Gly)
c.5057T>G (p.Val1686Gly)
c.1381T>G
c.1568T>G (p.Val523Gly)
c.*4777T>G (n.*4777T>G)
n.147T>G
c.1307T>G (p.Val436Gly)
c.5-3737T>G (n.5-3737T>G)
c.467T>G (p.Val156Gly)
c.-98-17498T>G (n.-98-17498T>G)
n.5130T>G
n.5171T>G
 ClinVar dbSNP gnomAD v4
17g.43067688A>GCA10591530BRCA1c.4991T>C (p.Val1664Ala)
c.4994T>C (p.Val1665Ala)
c.4868T>C (p.Val1623Ala)
c.4988T>C (p.Val1663Ala)
c.4916T>C (p.Val1639Ala)
c.1682T>C (p.Val561Ala)
c.1544T>C (p.Val515Ala)
c.4106T>C (p.Val1369Ala)
c.4871T>C (p.Val1624Ala)
c.5060T>C (p.Val1687Ala)
c.4853T>C (p.Val1618Ala)
c.1556T>C (p.Val519Ala)
c.5057T>C (p.Val1686Ala)
c.1381T>C
c.1568T>C (p.Val523Ala)
c.*4777T>C (n.*4777T>C)
n.147T>C
c.1307T>C (p.Val436Ala)
c.5-3737T>C (n.5-3737T>C)
c.467T>C (p.Val156Ala)
c.-98-17498T>C (n.-98-17498T>C)
n.5130T>C
n.5171T>C
 ClinVar dbSNP
17g.43067688A>TCA10591531BRCA1c.4991T>A (p.Val1664Glu)
c.4994T>A (p.Val1665Glu)
c.4868T>A (p.Val1623Glu)
c.4988T>A (p.Val1663Glu)
c.4916T>A (p.Val1639Glu)
c.1682T>A (p.Val561Glu)
c.1544T>A (p.Val515Glu)
c.4106T>A (p.Val1369Glu)
c.4871T>A (p.Val1624Glu)
c.5060T>A (p.Val1687Glu)
c.4853T>A (p.Val1618Glu)
c.1556T>A (p.Val519Glu)
c.5057T>A (p.Val1686Glu)
c.1381T>A
c.1568T>A (p.Val523Glu)
c.*4777T>A (n.*4777T>A)
n.147T>A
c.1307T>A (p.Val436Glu)
c.5-3737T>A (n.5-3737T>A)
c.467T>A (p.Val156Glu)
c.-98-17498T>A (n.-98-17498T>A)
n.5130T>A
n.5171T>A
 ClinVar dbSNP
17g.43067689C>ACA10591532BRCA1c.4990G>T (p.Val1664Leu)
c.4993G>T (p.Val1665Leu)
c.4867G>T (p.Val1623Leu)
c.4987G>T (p.Val1663Leu)
c.4915G>T (p.Val1639Leu)
c.1681G>T (p.Val561Leu)
c.1543G>T (p.Val515Leu)
c.4105G>T (p.Val1369Leu)
c.4870G>T (p.Val1624Leu)
c.5059G>T (p.Val1687Leu)
c.4852G>T (p.Val1618Leu)
c.1555G>T (p.Val519Leu)
c.5056G>T (p.Val1686Leu)
c.1380G>T
c.1567G>T (p.Val523Leu)
c.*4776G>T (n.*4776G>T)
n.146G>T
c.1306G>T (p.Val436Leu)
c.5-3738G>T (n.5-3738G>T)
c.466G>T (p.Val156Leu)
c.-98-17499G>T (n.-98-17499G>T)
n.5129G>T
n.5170G>T
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
17g.43067689C=CA2260771408BRCA1c.4990G= (p.Val1664=)
c.4993G= (p.Val1665=)
c.4867G= (p.Val1623=)
c.4987G= (p.Val1663=)
c.4915G= (p.Val1639=)
c.1681G= (p.Val561=)
c.1543G= (p.Val515=)
c.4105G= (p.Val1369=)
c.4870G= (p.Val1624=)
c.5059G= (p.Val1687=)
c.4852G= (p.Val1618=)
c.1555G= (p.Val519=)
c.5056G= (p.Val1686=)
c.1380G=
c.1567G= (p.Val523=)
c.*4776G= (n.*4776G=)
n.146G=
c.1306G= (p.Val436=)
c.5-3738G= (n.5-3738G=)
c.466G= (p.Val156=)
c.-98-17499G= (n.-98-17499G=)
n.5129G=
n.5170G=
17g.43067689C>GCA10591533BRCA1c.4990G>C (p.Val1664Leu)
c.4993G>C (p.Val1665Leu)
c.4867G>C (p.Val1623Leu)
c.4987G>C (p.Val1663Leu)
c.4915G>C (p.Val1639Leu)
c.1681G>C (p.Val561Leu)
c.1543G>C (p.Val515Leu)
c.4105G>C (p.Val1369Leu)
c.4870G>C (p.Val1624Leu)
c.5059G>C (p.Val1687Leu)
c.4852G>C (p.Val1618Leu)
c.1555G>C (p.Val519Leu)
c.5056G>C (p.Val1686Leu)
c.1380G>C
c.1567G>C (p.Val523Leu)
c.*4776G>C (n.*4776G>C)
n.146G>C
c.1306G>C (p.Val436Leu)
c.5-3738G>C (n.5-3738G>C)
c.466G>C (p.Val156Leu)
c.-98-17499G>C (n.-98-17499G>C)
n.5129G>C
n.5170G>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43067689C>TCA003143BRCA1c.4990G>A (p.Val1664Met)
c.4993G>A (p.Val1665Met)
c.4867G>A (p.Val1623Met)
c.4987G>A (p.Val1663Met)
c.4915G>A (p.Val1639Met)
c.1681G>A (p.Val561Met)
c.1543G>A (p.Val515Met)
c.4105G>A (p.Val1369Met)
c.4870G>A (p.Val1624Met)
c.5059G>A (p.Val1687Met)
c.4852G>A (p.Val1618Met)
c.1555G>A (p.Val519Met)
c.5056G>A (p.Val1686Met)
c.1380G>A
c.1567G>A (p.Val523Met)
c.*4776G>A (n.*4776G>A)
n.146G>A
c.1306G>A (p.Val436Met)
c.5-3738G>A (n.5-3738G>A)
c.466G>A (p.Val156Met)
c.-98-17499G>A (n.-98-17499G>A)
n.5129G>A
n.5170G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43067690delCA1139770803BRCA1c.4989del (p.Val1664CysfsTer12)
c.4992del (p.Val1665CysfsTer12)
c.4866del (p.Val1623CysfsTer12)
c.4986del (p.Val1663CysfsTer12)
c.4914del (p.Val1639CysfsTer12)
c.1680del (p.Val561CysfsTer12)
c.1542del (p.Val515CysfsTer12)
c.4104del (p.Val1369CysfsTer12)
c.4869del (p.Val1624CysfsTer12)
c.5058del (p.Val1687CysfsTer12)
c.4851del (p.Val1618CysfsTer12)
c.1554del (p.Val519CysfsTer12)
c.5055del (p.Val1686CysfsTer12)
c.1379del
c.1566del (p.Val523CysfsTer12)
c.*4775del (n.*4775del)
n.145del
c.1305del (p.Val436CysfsTer12)
c.5-3739del (n.5-3739del)
c.465del (p.Val156CysfsTer12)
c.-98-17500del (n.-98-17500del)
n.5128del
n.5169del
17g.43067690G>ACA003142BRCA1c.4989C>T (p.Leu1663=)
c.4992C>T (p.Leu1664=)
c.4866C>T (p.Leu1622=)
c.4986C>T (p.Leu1662=)
c.4914C>T (p.Leu1638=)
c.1680C>T (p.Leu560=)
c.1542C>T (p.Leu514=)
c.4104C>T (p.Leu1368=)
c.4869C>T (p.Leu1623=)
c.5058C>T (p.Leu1686=)
c.4851C>T (p.Leu1617=)
c.1554C>T (p.Leu518=)
c.5055C>T (p.Leu1685=)
c.1379C>T
c.1566C>T (p.Leu522=)
c.*4775C>T (n.*4775C>T)
n.145C>T
c.1305C>T (p.Leu435=)
c.5-3739C>T (n.5-3739C>T)
c.465C>T (p.Leu155=)
c.-98-17500C>T (n.-98-17500C>T)
n.5128C>T
n.5169C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43067690G>CCA500146398BRCA1c.4989C>G (p.Leu1663=)
c.4992C>G (p.Leu1664=)
c.4866C>G (p.Leu1622=)
c.4986C>G (p.Leu1662=)
c.4914C>G (p.Leu1638=)
c.1680C>G (p.Leu560=)
c.1542C>G (p.Leu514=)
c.4104C>G (p.Leu1368=)
c.4869C>G (p.Leu1623=)
c.5058C>G (p.Leu1686=)
c.4851C>G (p.Leu1617=)
c.1554C>G (p.Leu518=)
c.5055C>G (p.Leu1685=)
c.1379C>G
c.1566C>G (p.Leu522=)
c.*4775C>G (n.*4775C>G)
n.145C>G
c.1305C>G (p.Leu435=)
c.5-3739C>G (n.5-3739C>G)
c.465C>G (p.Leu155=)
c.-98-17500C>G (n.-98-17500C>G)
n.5128C>G
n.5169C>G
 ClinVar dbSNP gnomAD v4
17g.43067690G=CA2260771409BRCA1c.4989C= (p.Leu1663=)
c.4992C= (p.Leu1664=)
c.4866C= (p.Leu1622=)
c.4986C= (p.Leu1662=)
c.4914C= (p.Leu1638=)
c.1680C= (p.Leu560=)
c.1542C= (p.Leu514=)
c.4104C= (p.Leu1368=)
c.4869C= (p.Leu1623=)
c.5058C= (p.Leu1686=)
c.4851C= (p.Leu1617=)
c.1554C= (p.Leu518=)
c.5055C= (p.Leu1685=)
c.1379C=
c.1566C= (p.Leu522=)
c.*4775C= (n.*4775C=)
n.145C=
c.1305C= (p.Leu435=)
c.5-3739C= (n.5-3739C=)
c.465C= (p.Leu155=)
c.-98-17500C= (n.-98-17500C=)
n.5128C=
n.5169C=
17g.43067690G>TCA500146399BRCA1c.4989C>A (p.Leu1663=)
c.4992C>A (p.Leu1664=)
c.4866C>A (p.Leu1622=)
c.4986C>A (p.Leu1662=)
c.4914C>A (p.Leu1638=)
c.1680C>A (p.Leu560=)
c.1542C>A (p.Leu514=)
c.4104C>A (p.Leu1368=)
c.4869C>A (p.Leu1623=)
c.5058C>A (p.Leu1686=)
c.4851C>A (p.Leu1617=)
c.1554C>A (p.Leu518=)
c.5055C>A (p.Leu1685=)
c.1379C>A
c.1566C>A (p.Leu522=)
c.*4775C>A (n.*4775C>A)
n.145C>A
c.1305C>A (p.Leu435=)
c.5-3739C>A (n.5-3739C>A)
c.465C>A (p.Leu155=)
c.-98-17500C>A (n.-98-17500C>A)
n.5128C>A
n.5169C>A
 ClinVar dbSNP
17g.43067690dupCA2580093964BRCA1c.4989dup (p.Val1664ArgfsTer14)
c.4992dup (p.Val1665ArgfsTer14)
c.4866dup (p.Val1623ArgfsTer14)
c.4986dup (p.Val1663ArgfsTer14)
c.4914dup (p.Val1639ArgfsTer14)
c.1680dup (p.Val561ArgfsTer14)
c.1542dup (p.Val515ArgfsTer14)
c.4104dup (p.Val1369ArgfsTer14)
c.4869dup (p.Val1624ArgfsTer14)
c.5058dup (p.Val1687ArgfsTer14)
c.4851dup (p.Val1618ArgfsTer14)
c.1554dup (p.Val519ArgfsTer14)
c.5055dup (p.Val1686ArgfsTer14)
c.1379dup
c.1566dup (p.Val523ArgfsTer14)
c.*4775dup (n.*4775dup)
n.145dup
c.1305dup (p.Val436ArgfsTer14)
c.5-3739dup (n.5-3739dup)
c.465dup (p.Val156ArgfsTer14)
c.-98-17500dup (n.-98-17500dup)
n.5128dup
n.5169dup
 ClinVar
17g.43067691A=CA2260771410BRCA1c.4988T= (p.Leu1663=)
c.4991T= (p.Leu1664=)
c.4865T= (p.Leu1622=)
c.4985T= (p.Leu1662=)
c.4913T= (p.Leu1638=)
c.1679T= (p.Leu560=)
c.1541T= (p.Leu514=)
c.4103T= (p.Leu1368=)
c.4868T= (p.Leu1623=)
c.5057T= (p.Leu1686=)
c.4850T= (p.Leu1617=)
c.1553T= (p.Leu518=)
c.5054T= (p.Leu1685=)
c.1378T=
c.1565T= (p.Leu522=)
c.*4774T= (n.*4774T=)
n.144T=
c.1304T= (p.Leu435=)
c.5-3740T= (n.5-3740T=)
c.464T= (p.Leu155=)
c.-98-17501T= (n.-98-17501T=)
n.5127T=
n.5168T=
17g.43067691A>CCA10591534BRCA1c.4988T>G (p.Leu1663Arg)
c.4991T>G (p.Leu1664Arg)
c.4865T>G (p.Leu1622Arg)
c.4985T>G (p.Leu1662Arg)
c.4913T>G (p.Leu1638Arg)
c.1679T>G (p.Leu560Arg)
c.1541T>G (p.Leu514Arg)
c.4103T>G (p.Leu1368Arg)
c.4868T>G (p.Leu1623Arg)
c.5057T>G (p.Leu1686Arg)
c.4850T>G (p.Leu1617Arg)
c.1553T>G (p.Leu518Arg)
c.5054T>G (p.Leu1685Arg)
c.1378T>G
c.1565T>G (p.Leu522Arg)
c.*4774T>G (n.*4774T>G)
n.144T>G
c.1304T>G (p.Leu435Arg)
c.5-3740T>G (n.5-3740T>G)
c.464T>G (p.Leu155Arg)
c.-98-17501T>G (n.-98-17501T>G)
n.5127T>G
n.5168T>G
 ClinVar dbSNP
17g.43067691A>GCA003141BRCA1c.4988T>C (p.Leu1663Pro)
c.4991T>C (p.Leu1664Pro)
c.4865T>C (p.Leu1622Pro)
c.4985T>C (p.Leu1662Pro)
c.4913T>C (p.Leu1638Pro)
c.1679T>C (p.Leu560Pro)
c.1541T>C (p.Leu514Pro)
c.4103T>C (p.Leu1368Pro)
c.4868T>C (p.Leu1623Pro)
c.5057T>C (p.Leu1686Pro)
c.4850T>C (p.Leu1617Pro)
c.1553T>C (p.Leu518Pro)
c.5054T>C (p.Leu1685Pro)
c.1378T>C
c.1565T>C (p.Leu522Pro)
c.*4774T>C (n.*4774T>C)
n.144T>C
c.1304T>C (p.Leu435Pro)
c.5-3740T>C (n.5-3740T>C)
c.464T>C (p.Leu155Pro)
c.-98-17501T>C (n.-98-17501T>C)
n.5127T>C
n.5168T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43067691A>TCA10591535BRCA1c.4988T>A (p.Leu1663His)
c.4991T>A (p.Leu1664His)
c.4865T>A (p.Leu1622His)
c.4985T>A (p.Leu1662His)
c.4913T>A (p.Leu1638His)
c.1679T>A (p.Leu560His)
c.1541T>A (p.Leu514His)
c.4103T>A (p.Leu1368His)
c.4868T>A (p.Leu1623His)
c.5057T>A (p.Leu1686His)
c.4850T>A (p.Leu1617His)
c.1553T>A (p.Leu518His)
c.5054T>A (p.Leu1685His)
c.1378T>A
c.1565T>A (p.Leu522His)
c.*4774T>A (n.*4774T>A)
n.144T>A
c.1304T>A (p.Leu435His)
c.5-3740T>A (n.5-3740T>A)
c.464T>A (p.Leu155His)
c.-98-17501T>A (n.-98-17501T>A)
n.5127T>A
n.5168T>A
 ClinVar dbSNP
17g.43067692G>ACA10591536BRCA1c.4987C>T (p.Leu1663Phe)
c.4990C>T (p.Leu1664Phe)
c.4864C>T (p.Leu1622Phe)
c.4984C>T (p.Leu1662Phe)
c.4912C>T (p.Leu1638Phe)
c.1678C>T (p.Leu560Phe)
c.1540C>T (p.Leu514Phe)
c.4102C>T (p.Leu1368Phe)
c.4867C>T (p.Leu1623Phe)
c.5056C>T (p.Leu1686Phe)
c.4849C>T (p.Leu1617Phe)
c.1552C>T (p.Leu518Phe)
c.5053C>T (p.Leu1685Phe)
c.1377C>T
c.1564C>T (p.Leu522Phe)
c.*4773C>T (n.*4773C>T)
n.143C>T
c.1303C>T (p.Leu435Phe)
c.5-3741C>T (n.5-3741C>T)
c.463C>T (p.Leu155Phe)
c.-98-17502C>T (n.-98-17502C>T)
n.5126C>T
n.5167C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43067692G>CCA10591537BRCA1c.4987C>G (p.Leu1663Val)
c.4990C>G (p.Leu1664Val)
c.4864C>G (p.Leu1622Val)
c.4984C>G (p.Leu1662Val)
c.4912C>G (p.Leu1638Val)
c.1678C>G (p.Leu560Val)
c.1540C>G (p.Leu514Val)
c.4102C>G (p.Leu1368Val)
c.4867C>G (p.Leu1623Val)
c.5056C>G (p.Leu1686Val)
c.4849C>G (p.Leu1617Val)
c.1552C>G (p.Leu518Val)
c.5053C>G (p.Leu1685Val)
c.1377C>G
c.1564C>G (p.Leu522Val)
c.*4773C>G (n.*4773C>G)
n.143C>G
c.1303C>G (p.Leu435Val)
c.5-3741C>G (n.5-3741C>G)
c.463C>G (p.Leu155Val)
c.-98-17502C>G (n.-98-17502C>G)
n.5126C>G
n.5167C>G
 ClinVar dbSNP
17g.43067692G=CA2260771411BRCA1c.4987C= (p.Leu1663=)
c.4990C= (p.Leu1664=)
c.4864C= (p.Leu1622=)
c.4984C= (p.Leu1662=)
c.4912C= (p.Leu1638=)
c.1678C= (p.Leu560=)
c.1540C= (p.Leu514=)
c.4102C= (p.Leu1368=)
c.4867C= (p.Leu1623=)
c.5056C= (p.Leu1686=)
c.4849C= (p.Leu1617=)
c.1552C= (p.Leu518=)
c.5053C= (p.Leu1685=)
c.1377C=
c.1564C= (p.Leu522=)
c.*4773C= (n.*4773C=)
n.143C=
c.1303C= (p.Leu435=)
c.5-3741C= (n.5-3741C=)
c.463C= (p.Leu155=)
c.-98-17502C= (n.-98-17502C=)
n.5126C=
n.5167C=
17g.43067692G>TCA10591538BRCA1c.4987C>A (p.Leu1663Ile)
c.4990C>A (p.Leu1664Ile)
c.4864C>A (p.Leu1622Ile)
c.4984C>A (p.Leu1662Ile)
c.4912C>A (p.Leu1638Ile)
c.1678C>A (p.Leu560Ile)
c.1540C>A (p.Leu514Ile)
c.4102C>A (p.Leu1368Ile)
c.4867C>A (p.Leu1623Ile)
c.5056C>A (p.Leu1686Ile)
c.4849C>A (p.Leu1617Ile)
c.1552C>A (p.Leu518Ile)
c.5053C>A (p.Leu1685Ile)
c.1377C>A
c.1564C>A (p.Leu522Ile)
c.*4773C>A (n.*4773C>A)
n.143C>A
c.1303C>A (p.Leu435Ile)
c.5-3741C>A (n.5-3741C>A)
c.463C>A (p.Leu155Ile)
c.-98-17502C>A (n.-98-17502C>A)
n.5126C>A
n.5167C>A
 ClinVar dbSNP
17g.43067693C>ACA053638BRCA1c.4986G>T (p.Met1662Ile)
c.4989G>T (p.Met1663Ile)
c.4863G>T (p.Met1621Ile)
c.4983G>T (p.Met1661Ile)
c.4911G>T (p.Met1637Ile)
c.1677G>T (p.Met559Ile)
c.1539G>T (p.Met513Ile)
c.4101G>T (p.Met1367Ile)
c.4866G>T (p.Met1622Ile)
c.5055G>T (p.Met1685Ile)
c.4848G>T (p.Met1616Ile)
c.1551G>T (p.Met517Ile)
c.5052G>T (p.Met1684Ile)
c.1376G>T
c.1563G>T (p.Met521Ile)
c.*4772G>T (n.*4772G>T)
n.142G>T
c.1302G>T (p.Met434Ile)
c.5-3742G>T (n.5-3742G>T)
c.462G>T (p.Met154Ile)
c.-98-17503G>T (n.-98-17503G>T)
n.5125G>T
n.5166G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43067693C=CA2260771412BRCA1c.4986G= (p.Met1662=)
c.4989G= (p.Met1663=)
c.4863G= (p.Met1621=)
c.4983G= (p.Met1661=)
c.4911G= (p.Met1637=)
c.1677G= (p.Met559=)
c.1539G= (p.Met513=)
c.4101G= (p.Met1367=)
c.4866G= (p.Met1622=)
c.5055G= (p.Met1685=)
c.4848G= (p.Met1616=)
c.1551G= (p.Met517=)
c.5052G= (p.Met1684=)
c.1376G=
c.1563G= (p.Met521=)
c.*4772G= (n.*4772G=)
n.142G=
c.1302G= (p.Met434=)
c.5-3742G= (n.5-3742G=)
c.462G= (p.Met154=)
c.-98-17503G= (n.-98-17503G=)
n.5125G=
n.5166G=
17g.43067693C>GCA10591539BRCA1c.4986G>C (p.Met1662Ile)
c.4989G>C (p.Met1663Ile)
c.4863G>C (p.Met1621Ile)
c.4983G>C (p.Met1661Ile)
c.4911G>C (p.Met1637Ile)
c.1677G>C (p.Met559Ile)
c.1539G>C (p.Met513Ile)
c.4101G>C (p.Met1367Ile)
c.4866G>C (p.Met1622Ile)
c.5055G>C (p.Met1685Ile)
c.4848G>C (p.Met1616Ile)
c.1551G>C (p.Met517Ile)
c.5052G>C (p.Met1684Ile)
c.1376G>C
c.1563G>C (p.Met521Ile)
c.*4772G>C (n.*4772G>C)
n.142G>C
c.1302G>C (p.Met434Ile)
c.5-3742G>C (n.5-3742G>C)
c.462G>C (p.Met154Ile)
c.-98-17503G>C (n.-98-17503G>C)
n.5125G>C
n.5166G>C
 ClinVar dbSNP
17g.43067693C>TCA10591540BRCA1c.4986G>A (p.Met1662Ile)
c.4989G>A (p.Met1663Ile)
c.4863G>A (p.Met1621Ile)
c.4983G>A (p.Met1661Ile)
c.4911G>A (p.Met1637Ile)
c.1677G>A (p.Met559Ile)
c.1539G>A (p.Met513Ile)
c.4101G>A (p.Met1367Ile)
c.4866G>A (p.Met1622Ile)
c.5055G>A (p.Met1685Ile)
c.4848G>A (p.Met1616Ile)
c.1551G>A (p.Met517Ile)
c.5052G>A (p.Met1684Ile)
c.1376G>A
c.1563G>A (p.Met521Ile)
c.*4772G>A (n.*4772G>A)
n.142G>A
c.1302G>A (p.Met434Ile)
c.5-3742G>A (n.5-3742G>A)
c.462G>A (p.Met154Ile)
c.-98-17503G>A (n.-98-17503G>A)
n.5125G>A
n.5166G>A
 ClinVar dbSNP
17g.43067693dupCA2581463407BRCA1c.4986dup (p.Leu1663AlafsTer15)
c.4989dup (p.Leu1664AlafsTer15)
c.4863dup (p.Leu1622AlafsTer15)
c.4983dup (p.Leu1662AlafsTer15)
c.4911dup (p.Leu1638AlafsTer15)
c.1677dup (p.Leu560AlafsTer15)
c.1539dup (p.Leu514AlafsTer15)
c.4101dup (p.Leu1368AlafsTer15)
c.4866dup (p.Leu1623AlafsTer15)
c.5055dup (p.Leu1686AlafsTer15)
c.4848dup (p.Leu1617AlafsTer15)
c.1551dup (p.Leu518AlafsTer15)
c.5052dup (p.Leu1685AlafsTer15)
c.1376dup
c.1563dup (p.Leu522AlafsTer15)
c.*4772dup (n.*4772dup)
n.142dup
c.1302dup (p.Leu435AlafsTer15)
c.5-3742dup (n.5-3742dup)
c.462dup (p.Leu155AlafsTer15)
c.-98-17503dup (n.-98-17503dup)
n.5125dup
n.5166dup
17g.43067694A=CA2260771413BRCA1c.4985T= (p.Met1662=)
c.4988T= (p.Met1663=)
c.4862T= (p.Met1621=)
c.4982T= (p.Met1661=)
c.4910T= (p.Met1637=)
c.1676T= (p.Met559=)
c.1538T= (p.Met513=)
c.4100T= (p.Met1367=)
c.4865T= (p.Met1622=)
c.5054T= (p.Met1685=)
c.4847T= (p.Met1616=)
c.1550T= (p.Met517=)
c.5051T= (p.Met1684=)
c.1375T=
c.1562T= (p.Met521=)
c.*4771T= (n.*4771T=)
n.141T=
c.1301T= (p.Met434=)
c.5-3743T= (n.5-3743T=)
c.461T= (p.Met154=)
c.-98-17504T= (n.-98-17504T=)
n.5124T=
n.5165T=
17g.43067694A>CCA10591541BRCA1c.4985T>G (p.Met1662Arg)
c.4988T>G (p.Met1663Arg)
c.4862T>G (p.Met1621Arg)
c.4982T>G (p.Met1661Arg)
c.4910T>G (p.Met1637Arg)
c.1676T>G (p.Met559Arg)
c.1538T>G (p.Met513Arg)
c.4100T>G (p.Met1367Arg)
c.4865T>G (p.Met1622Arg)
c.5054T>G (p.Met1685Arg)
c.4847T>G (p.Met1616Arg)
c.1550T>G (p.Met517Arg)
c.5051T>G (p.Met1684Arg)
c.1375T>G
c.1562T>G (p.Met521Arg)
c.*4771T>G (n.*4771T>G)
n.141T>G
c.1301T>G (p.Met434Arg)
c.5-3743T>G (n.5-3743T>G)
c.461T>G (p.Met154Arg)
c.-98-17504T>G (n.-98-17504T>G)
n.5124T>G
n.5165T>G
 ClinVar dbSNP
17g.43067694A>GCA10591542BRCA1c.4985T>C (p.Met1662Thr)
c.4988T>C (p.Met1663Thr)
c.4862T>C (p.Met1621Thr)
c.4982T>C (p.Met1661Thr)
c.4910T>C (p.Met1637Thr)
c.1676T>C (p.Met559Thr)
c.1538T>C (p.Met513Thr)
c.4100T>C (p.Met1367Thr)
c.4865T>C (p.Met1622Thr)
c.5054T>C (p.Met1685Thr)
c.4847T>C (p.Met1616Thr)
c.1550T>C (p.Met517Thr)
c.5051T>C (p.Met1684Thr)
c.1375T>C
c.1562T>C (p.Met521Thr)
c.*4771T>C (n.*4771T>C)
n.141T>C
c.1301T>C (p.Met434Thr)
c.5-3743T>C (n.5-3743T>C)
c.461T>C (p.Met154Thr)
c.-98-17504T>C (n.-98-17504T>C)
n.5124T>C
n.5165T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43067694A>TCA003140BRCA1c.4985T>A (p.Met1662Lys)
c.4988T>A (p.Met1663Lys)
c.4862T>A (p.Met1621Lys)
c.4982T>A (p.Met1661Lys)
c.4910T>A (p.Met1637Lys)
c.1676T>A (p.Met559Lys)
c.1538T>A (p.Met513Lys)
c.4100T>A (p.Met1367Lys)
c.4865T>A (p.Met1622Lys)
c.5054T>A (p.Met1685Lys)
c.4847T>A (p.Met1616Lys)
c.1550T>A (p.Met517Lys)
c.5051T>A (p.Met1684Lys)
c.1375T>A
c.1562T>A (p.Met521Lys)
c.*4771T>A (n.*4771T>A)
n.141T>A
c.1301T>A (p.Met434Lys)
c.5-3743T>A (n.5-3743T>A)
c.461T>A (p.Met154Lys)
c.-98-17504T>A (n.-98-17504T>A)
n.5124T>A
n.5165T>A
 ClinVar dbSNP gnomAD v4
17g.43067694_43067695delinsATCA2260771414BRCA1c.4984_4985delinsAT (p.Met1662=)
c.4987_4988delinsAT (p.Met1663=)
c.4861_4862delinsAT (p.Met1621=)
c.4981_4982delinsAT (p.Met1661=)
c.4909_4910delinsAT (p.Met1637=)
c.1675_1676delinsAT (p.Met559=)
c.1537_1538delinsAT (p.Met513=)
c.4099_4100delinsAT (p.Met1367=)
c.4864_4865delinsAT (p.Met1622=)
c.5053_5054delinsAT (p.Met1685=)
c.4846_4847delinsAT (p.Met1616=)
c.1549_1550delinsAT (p.Met517=)
c.5050_5051delinsAT (p.Met1684=)
c.1374_1375delinsAT
c.1561_1562delinsAT (p.Met521=)
c.*4770_*4771delinsAT (n.*4770_*4771delinsAT)
n.140_141delinsAT
c.1300_1301delinsAT (p.Met434=)
c.5-3744_5-3743delinsAT (n.5-3744_5-3743delinsAT)
c.460_461delinsAT (p.Met154=)
c.-98-17505_-98-17504delinsAT (n.-98-17505_-98-17504delinsAT)
n.5123_5124delinsAT
n.5164_5165delinsAT
17g.43067695delCA10602583BRCA1c.4984del (p.Met1662CysfsTer14)
c.4987del (p.Met1663CysfsTer14)
c.4861del (p.Met1621CysfsTer14)
c.4981del (p.Met1661CysfsTer14)
c.4909del (p.Met1637CysfsTer14)
c.1675del (p.Met559CysfsTer14)
c.1537del (p.Met513CysfsTer14)
c.4099del (p.Met1367CysfsTer14)
c.4864del (p.Met1622CysfsTer14)
c.5053del (p.Met1685CysfsTer14)
c.4846del (p.Met1616CysfsTer14)
c.1549del (p.Met517CysfsTer14)
c.5050del (p.Met1684CysfsTer14)
c.1374del
c.1561del (p.Met521CysfsTer14)
c.*4770del (n.*4770del)
n.140del
c.1300del (p.Met434CysfsTer14)
c.5-3744del (n.5-3744del)
c.460del (p.Met154CysfsTer14)
c.-98-17505del (n.-98-17505del)
n.5123del
n.5164del
 ClinVar dbSNP
17g.43067695T>ACA003139BRCA1c.4984A>T (p.Met1662Leu)
c.4987A>T (p.Met1663Leu)
c.4861A>T (p.Met1621Leu)
c.4981A>T (p.Met1661Leu)
c.4909A>T (p.Met1637Leu)
c.1675A>T (p.Met559Leu)
c.1537A>T (p.Met513Leu)
c.4099A>T (p.Met1367Leu)
c.4864A>T (p.Met1622Leu)
c.5053A>T (p.Met1685Leu)
c.4846A>T (p.Met1616Leu)
c.1549A>T (p.Met517Leu)
c.5050A>T (p.Met1684Leu)
c.1374A>T
c.1561A>T (p.Met521Leu)
c.*4770A>T (n.*4770A>T)
n.140A>T
c.1300A>T (p.Met434Leu)
c.5-3744A>T (n.5-3744A>T)
c.460A>T (p.Met154Leu)
c.-98-17505A>T (n.-98-17505A>T)
n.5123A>T
n.5164A>T
 ClinVar dbSNP
17g.43067695T>CCA10591543BRCA1c.4984A>G (p.Met1662Val)
c.4987A>G (p.Met1663Val)
c.4861A>G (p.Met1621Val)
c.4981A>G (p.Met1661Val)
c.4909A>G (p.Met1637Val)
c.1675A>G (p.Met559Val)
c.1537A>G (p.Met513Val)
c.4099A>G (p.Met1367Val)
c.4864A>G (p.Met1622Val)
c.5053A>G (p.Met1685Val)
c.4846A>G (p.Met1616Val)
c.1549A>G (p.Met517Val)
c.5050A>G (p.Met1684Val)
c.1374A>G
c.1561A>G (p.Met521Val)
c.*4770A>G (n.*4770A>G)
n.140A>G
c.1300A>G (p.Met434Val)
c.5-3744A>G (n.5-3744A>G)
c.460A>G (p.Met154Val)
c.-98-17505A>G (n.-98-17505A>G)
n.5123A>G
n.5164A>G
 ClinVar dbSNP gnomAD v4
17g.43067695T>GCA10591544BRCA1c.4984A>C (p.Met1662Leu)
c.4987A>C (p.Met1663Leu)
c.4861A>C (p.Met1621Leu)
c.4981A>C (p.Met1661Leu)
c.4909A>C (p.Met1637Leu)
c.1675A>C (p.Met559Leu)
c.1537A>C (p.Met513Leu)
c.4099A>C (p.Met1367Leu)
c.4864A>C (p.Met1622Leu)
c.5053A>C (p.Met1685Leu)
c.4846A>C (p.Met1616Leu)
c.1549A>C (p.Met517Leu)
c.5050A>C (p.Met1684Leu)
c.1374A>C
c.1561A>C (p.Met521Leu)
c.*4770A>C (n.*4770A>C)
n.140A>C
c.1300A>C (p.Met434Leu)
c.5-3744A>C (n.5-3744A>C)
c.460A>C (p.Met154Leu)
c.-98-17505A>C (n.-98-17505A>C)
n.5123A>C
n.5164A>C
 ClinVar dbSNP
17g.43067695T=CA2260771415BRCA1c.4984A= (p.Met1662=)
c.4987A= (p.Met1663=)
c.4861A= (p.Met1621=)
c.4981A= (p.Met1661=)
c.4909A= (p.Met1637=)
c.1675A= (p.Met559=)
c.1537A= (p.Met513=)
c.4099A= (p.Met1367=)
c.4864A= (p.Met1622=)
c.5053A= (p.Met1685=)
c.4846A= (p.Met1616=)
c.1549A= (p.Met517=)
c.5050A= (p.Met1684=)
c.1374A=
c.1561A= (p.Met521=)
c.*4770A= (n.*4770A=)
n.140A=
c.1300A= (p.Met434=)
c.5-3744A= (n.5-3744A=)
c.460A= (p.Met154=)
c.-98-17505A= (n.-98-17505A=)
n.5123A=
n.5164A=
17g.43067696C>ACA10591545BRCA1c.4984-1G>T (n.4984-1G>T)
c.4987-1G>T (n.4987-1G>T)
c.4861-1G>T (n.4861-1G>T)
c.4981-1G>T (n.4981-1G>T)
c.4909-1G>T (n.4909-1G>T)
c.1675-1G>T (n.1675-1G>T)
c.1537-1G>T (n.1537-1G>T)
c.4099-1G>T (n.4099-1G>T)
c.4864-1G>T (n.4864-1G>T)
c.5053-1G>T (n.5053-1G>T)
c.4846-1G>T (n.4846-1G>T)
c.1549-1G>T (n.1549-1G>T)
c.5050-1G>T (n.5050-1G>T)
c.1374-1G>T
c.1561-1G>T (n.1561-1G>T)
c.*4770-1G>T (n.*4770-1G>T)
n.140-1G>T
c.1300-1G>T (n.1300-1G>T)
c.5-3745G>T (n.5-3745G>T)
c.460-1G>T (n.460-1G>T)
c.-98-17506G>T (n.-98-17506G>T)
n.5123-1G>T
n.5164-1G>T
 ClinVar dbSNP gnomAD v4
17g.43067696C=CA913190340BRCA1c.4984-1G= (n.4984-1G=)
c.4987-1G= (n.4987-1G=)
c.4861-1G= (n.4861-1G=)
c.4981-1G= (n.4981-1G=)
c.4909-1G= (n.4909-1G=)
c.1675-1G= (n.1675-1G=)
c.1537-1G= (n.1537-1G=)
c.4099-1G= (n.4099-1G=)
c.4864-1G= (n.4864-1G=)
c.5053-1G= (n.5053-1G=)
c.4846-1G= (n.4846-1G=)
c.1549-1G= (n.1549-1G=)
c.5050-1G= (n.5050-1G=)
c.1374-1G=
c.1561-1G= (n.1561-1G=)
c.*4770-1G= (n.*4770-1G=)
n.140-1G=
c.1300-1G= (n.1300-1G=)
c.5-3745G= (n.5-3745G=)
c.460-1G= (n.460-1G=)
c.-98-17506G= (n.-98-17506G=)
n.5123-1G=
n.5164-1G=
17g.43067696C>GCA10591546BRCA1c.4984-1G>C (n.4984-1G>C)
c.4987-1G>C (n.4987-1G>C)
c.4861-1G>C (n.4861-1G>C)
c.4981-1G>C (n.4981-1G>C)
c.4909-1G>C (n.4909-1G>C)
c.1675-1G>C (n.1675-1G>C)
c.1537-1G>C (n.1537-1G>C)
c.4099-1G>C (n.4099-1G>C)
c.4864-1G>C (n.4864-1G>C)
c.5053-1G>C (n.5053-1G>C)
c.4846-1G>C (n.4846-1G>C)
c.1549-1G>C (n.1549-1G>C)
c.5050-1G>C (n.5050-1G>C)
c.1374-1G>C
c.1561-1G>C (n.1561-1G>C)
c.*4770-1G>C (n.*4770-1G>C)
n.140-1G>C
c.1300-1G>C (n.1300-1G>C)
c.5-3745G>C (n.5-3745G>C)
c.460-1G>C (n.460-1G>C)
c.-98-17506G>C (n.-98-17506G>C)
n.5123-1G>C
n.5164-1G>C
 ClinVar dbSNP
17g.43067696C>TCA003130BRCA1c.4984-1G>A (n.4984-1G>A)
c.4987-1G>A (n.4987-1G>A)
c.4861-1G>A (n.4861-1G>A)
c.4981-1G>A (n.4981-1G>A)
c.4909-1G>A (n.4909-1G>A)
c.1675-1G>A (n.1675-1G>A)
c.1537-1G>A (n.1537-1G>A)
c.4099-1G>A (n.4099-1G>A)
c.4864-1G>A (n.4864-1G>A)
c.5053-1G>A (n.5053-1G>A)
c.4846-1G>A (n.4846-1G>A)
c.1549-1G>A (n.1549-1G>A)
c.5050-1G>A (n.5050-1G>A)
c.1374-1G>A
c.1561-1G>A (n.1561-1G>A)
c.*4770-1G>A (n.*4770-1G>A)
n.140-1G>A
c.1300-1G>A (n.1300-1G>A)
c.5-3745G>A (n.5-3745G>A)
c.460-1G>A (n.460-1G>A)
c.-98-17506G>A (n.-98-17506G>A)
n.5123-1G>A
n.5164-1G>A
 ClinVar dbSNP
17g.43067697T>ACA10591547BRCA1c.4984-2A>T (n.4984-2A>T)
c.4987-2A>T (n.4987-2A>T)
c.4861-2A>T (n.4861-2A>T)
c.4981-2A>T (n.4981-2A>T)
c.4909-2A>T (n.4909-2A>T)
c.1675-2A>T (n.1675-2A>T)
c.1537-2A>T (n.1537-2A>T)
c.4099-2A>T (n.4099-2A>T)
c.4864-2A>T (n.4864-2A>T)
c.5053-2A>T (n.5053-2A>T)
c.4846-2A>T (n.4846-2A>T)
c.1549-2A>T (n.1549-2A>T)
c.5050-2A>T (n.5050-2A>T)
c.1374-2A>T
c.1561-2A>T (n.1561-2A>T)
c.*4770-2A>T (n.*4770-2A>T)
n.140-2A>T
c.1300-2A>T (n.1300-2A>T)
c.5-3746A>T (n.5-3746A>T)
c.460-2A>T (n.460-2A>T)
c.-98-17507A>T (n.-98-17507A>T)
n.5123-2A>T
n.5164-2A>T
 ClinVar dbSNP
17g.43067697T>CCA003132BRCA1c.4984-2A>G (n.4984-2A>G)
c.4987-2A>G (n.4987-2A>G)
c.4861-2A>G (n.4861-2A>G)
c.4981-2A>G (n.4981-2A>G)
c.4909-2A>G (n.4909-2A>G)
c.1675-2A>G (n.1675-2A>G)
c.1537-2A>G (n.1537-2A>G)
c.4099-2A>G (n.4099-2A>G)
c.4864-2A>G (n.4864-2A>G)
c.5053-2A>G (n.5053-2A>G)
c.4846-2A>G (n.4846-2A>G)
c.1549-2A>G (n.1549-2A>G)
c.5050-2A>G (n.5050-2A>G)
c.1374-2A>G
c.1561-2A>G (n.1561-2A>G)
c.*4770-2A>G (n.*4770-2A>G)
n.140-2A>G
c.1300-2A>G (n.1300-2A>G)
c.5-3746A>G (n.5-3746A>G)
c.460-2A>G (n.460-2A>G)
c.-98-17507A>G (n.-98-17507A>G)
n.5123-2A>G
n.5164-2A>G
 ClinVar dbSNP
17g.43067697T>GCA10583555BRCA1c.4984-2A>C (n.4984-2A>C)
c.4987-2A>C (n.4987-2A>C)
c.4861-2A>C (n.4861-2A>C)
c.4981-2A>C (n.4981-2A>C)
c.4909-2A>C (n.4909-2A>C)
c.1675-2A>C (n.1675-2A>C)
c.1537-2A>C (n.1537-2A>C)
c.4099-2A>C (n.4099-2A>C)
c.4864-2A>C (n.4864-2A>C)
c.5053-2A>C (n.5053-2A>C)
c.4846-2A>C (n.4846-2A>C)
c.1549-2A>C (n.1549-2A>C)
c.5050-2A>C (n.5050-2A>C)
c.1374-2A>C
c.1561-2A>C (n.1561-2A>C)
c.*4770-2A>C (n.*4770-2A>C)
n.140-2A>C
c.1300-2A>C (n.1300-2A>C)
c.5-3746A>C (n.5-3746A>C)
c.460-2A>C (n.460-2A>C)
c.-98-17507A>C (n.-98-17507A>C)
n.5123-2A>C
n.5164-2A>C
 ClinVar dbSNP
17g.43067697T=CA2260771416BRCA1c.4984-2A= (n.4984-2A=)
c.4987-2A= (n.4987-2A=)
c.4861-2A= (n.4861-2A=)
c.4981-2A= (n.4981-2A=)
c.4909-2A= (n.4909-2A=)
c.1675-2A= (n.1675-2A=)
c.1537-2A= (n.1537-2A=)
c.4099-2A= (n.4099-2A=)
c.4864-2A= (n.4864-2A=)
c.5053-2A= (n.5053-2A=)
c.4846-2A= (n.4846-2A=)
c.1549-2A= (n.1549-2A=)
c.5050-2A= (n.5050-2A=)
c.1374-2A=
c.1561-2A= (n.1561-2A=)
c.*4770-2A= (n.*4770-2A=)
n.140-2A=
c.1300-2A= (n.1300-2A=)
c.5-3746A= (n.5-3746A=)
c.460-2A= (n.460-2A=)
c.-98-17507A= (n.-98-17507A=)
n.5123-2A=
n.5164-2A=
17g.43067698G>ACA658653696BRCA1c.4984-3C>T (n.4984-3C>T)
c.4987-3C>T (n.4987-3C>T)
c.4861-3C>T (n.4861-3C>T)
c.4981-3C>T (n.4981-3C>T)
c.4909-3C>T (n.4909-3C>T)
c.1675-3C>T (n.1675-3C>T)
c.1537-3C>T (n.1537-3C>T)
c.4099-3C>T (n.4099-3C>T)
c.4864-3C>T (n.4864-3C>T)
c.5053-3C>T (n.5053-3C>T)
c.4846-3C>T (n.4846-3C>T)
c.1549-3C>T (n.1549-3C>T)
c.5050-3C>T (n.5050-3C>T)
c.1374-3C>T
c.1561-3C>T (n.1561-3C>T)
c.*4770-3C>T (n.*4770-3C>T)
n.140-3C>T
c.1300-3C>T (n.1300-3C>T)
c.5-3747C>T (n.5-3747C>T)
c.460-3C>T (n.460-3C>T)
c.-98-17508C>T (n.-98-17508C>T)
n.5123-3C>T
n.5164-3C>T
 ClinVar dbSNP
17g.43067698G>CCA003133BRCA1c.4984-3C>G (n.4984-3C>G)
c.4987-3C>G (n.4987-3C>G)
c.4861-3C>G (n.4861-3C>G)
c.4981-3C>G (n.4981-3C>G)
c.4909-3C>G (n.4909-3C>G)
c.1675-3C>G (n.1675-3C>G)
c.1537-3C>G (n.1537-3C>G)
c.4099-3C>G (n.4099-3C>G)
c.4864-3C>G (n.4864-3C>G)
c.5053-3C>G (n.5053-3C>G)
c.4846-3C>G (n.4846-3C>G)
c.1549-3C>G (n.1549-3C>G)
c.5050-3C>G (n.5050-3C>G)
c.1374-3C>G
c.1561-3C>G (n.1561-3C>G)
c.*4770-3C>G (n.*4770-3C>G)
n.140-3C>G
c.1300-3C>G (n.1300-3C>G)
c.5-3747C>G (n.5-3747C>G)
c.460-3C>G (n.460-3C>G)
c.-98-17508C>G (n.-98-17508C>G)
n.5123-3C>G
n.5164-3C>G
 ClinVar dbSNP
17g.43067698G=CA2260771418BRCA1c.4984-3C= (n.4984-3C=)
c.4987-3C= (n.4987-3C=)
c.4861-3C= (n.4861-3C=)
c.4981-3C= (n.4981-3C=)
c.4909-3C= (n.4909-3C=)
c.1675-3C= (n.1675-3C=)
c.1537-3C= (n.1537-3C=)
c.4099-3C= (n.4099-3C=)
c.4864-3C= (n.4864-3C=)
c.5053-3C= (n.5053-3C=)
c.4846-3C= (n.4846-3C=)
c.1549-3C= (n.1549-3C=)
c.5050-3C= (n.5050-3C=)
c.1374-3C=
c.1561-3C= (n.1561-3C=)
c.*4770-3C= (n.*4770-3C=)
n.140-3C=
c.1300-3C= (n.1300-3C=)
c.5-3747C= (n.5-3747C=)
c.460-3C= (n.460-3C=)
c.-98-17508C= (n.-98-17508C=)
n.5123-3C=
n.5164-3C=
17g.43067698G>TCA916080165BRCA1c.4984-3C>A (n.4984-3C>A)
c.4987-3C>A (n.4987-3C>A)
c.4861-3C>A (n.4861-3C>A)
c.4981-3C>A (n.4981-3C>A)
c.4909-3C>A (n.4909-3C>A)
c.1675-3C>A (n.1675-3C>A)
c.1537-3C>A (n.1537-3C>A)
c.4099-3C>A (n.4099-3C>A)
c.4864-3C>A (n.4864-3C>A)
c.5053-3C>A (n.5053-3C>A)
c.4846-3C>A (n.4846-3C>A)
c.1549-3C>A (n.1549-3C>A)
c.5050-3C>A (n.5050-3C>A)
c.1374-3C>A
c.1561-3C>A (n.1561-3C>A)
c.*4770-3C>A (n.*4770-3C>A)
n.140-3C>A
c.1300-3C>A (n.1300-3C>A)
c.5-3747C>A (n.5-3747C>A)
c.460-3C>A (n.460-3C>A)
c.-98-17508C>A (n.-98-17508C>A)
n.5123-3C>A
n.5164-3C>A
 ClinVar dbSNP
17g.43067698_43067699delinsGACA2260771417BRCA1c.4984-4_4984-3delinsTC (n.4984-4_4984-3delinsTC)
c.4987-4_4987-3delinsTC (n.4987-4_4987-3delinsTC)
c.4861-4_4861-3delinsTC (n.4861-4_4861-3delinsTC)
c.4981-4_4981-3delinsTC (n.4981-4_4981-3delinsTC)
c.4909-4_4909-3delinsTC (n.4909-4_4909-3delinsTC)
c.1675-4_1675-3delinsTC (n.1675-4_1675-3delinsTC)
c.1537-4_1537-3delinsTC (n.1537-4_1537-3delinsTC)
c.4099-4_4099-3delinsTC (n.4099-4_4099-3delinsTC)
c.4864-4_4864-3delinsTC (n.4864-4_4864-3delinsTC)
c.5053-4_5053-3delinsTC (n.5053-4_5053-3delinsTC)
c.4846-4_4846-3delinsTC (n.4846-4_4846-3delinsTC)
c.1549-4_1549-3delinsTC (n.1549-4_1549-3delinsTC)
c.5050-4_5050-3delinsTC (n.5050-4_5050-3delinsTC)
c.1374-4_1374-3delinsTC
c.1561-4_1561-3delinsTC (n.1561-4_1561-3delinsTC)
c.*4770-4_*4770-3delinsTC (n.*4770-4_*4770-3delinsTC)
n.140-4_140-3delinsTC
c.1300-4_1300-3delinsTC (n.1300-4_1300-3delinsTC)
c.5-3748_5-3747delinsTC (n.5-3748_5-3747delinsTC)
c.460-4_460-3delinsTC (n.460-4_460-3delinsTC)
c.-98-17509_-98-17508delinsTC (n.-98-17509_-98-17508delinsTC)
n.5123-4_5123-3delinsTC
n.5164-4_5164-3delinsTC

Number of alleles fetched