Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.43063357_43067682dup | CA1139532339 | BRCA1 | c.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 | |
17 | g.43063870_43069026del | CA2832429626 | BRCA1 | c.4984-1330_5149+5del c.4987-1330_5152+5del c.4861-1330_5026+5del c.4981-1330_5146+5del c.4909-1330_5074+5del c.1675-1330_1840+5del c.1537-1330_1702+5del c.4099-1330_4264+5del c.4864-1330_5029+5del c.5053-1330_5218+5del c.4846-1330_5011+5del c.1549-1330_1714+5del c.5050-1330_5215+5del c.1374-1330_1539+5del c.1561-1330_1726+5del c.*4770-1330_*4935+5del c.1300-1330_1465+5del c.5-5074_82+5del c.460-1330_625+5del c.-98-18835_-98-13679del (n.-98-18835_-98-13679del) n.5123-1330_5288+5del n.5164-1330_5329+5del | |
17 | g.43063871_43069026del | CA2832426653 | BRCA1 | c.4984-1331_5149+3del c.4987-1331_5152+3del c.4861-1331_5026+3del c.4981-1331_5146+3del c.4909-1331_5074+3del c.1675-1331_1840+3del c.1537-1331_1702+3del c.4099-1331_4264+3del c.4864-1331_5029+3del c.5053-1331_5218+3del c.4846-1331_5011+3del c.1549-1331_1714+3del c.5050-1331_5215+3del c.1374-1331_1539+3del c.1561-1331_1726+3del c.*4770-1331_*4935+3del c.1300-1331_1465+3del c.5-5075_82+3del c.460-1331_625+3del c.-98-18836_-98-13681del (n.-98-18836_-98-13681del) n.5123-1331_5288+3del n.5164-1331_5329+3del | |
17 | g.43063872_43069026del | CA2499224378 | BRCA1 | c.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 |
17 | g.43063955_43071241del | CA10575957 | BRCA1 | c.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 | |
17 | g.43064932_43070036del | CA10602581 | BRCA1 | c.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 |
17 | g.43064935_43070038del | CA16043348 | BRCA1 | c.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 |
17 | g.43066661_43072815del | CA913190336 | BRCA1 | c.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 |
17 | g.43066860_43069976del | CA16043349 | BRCA1 | c.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 |
17 | g.43067263_43068276del | CA913190339 | BRCA1 | c.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 |
17 | g.43067266_43068273del | CA10602610 | BRCA1 | c.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 |
17 | g.43067524_43070203del | CA10602582 | BRCA1 | c.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 |
17 | g.43067579_43067738del | CA2695225898 | BRCA1 | c.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 | |
17 | g.43067601_43067626del | CA2544214709 | BRCA1 | c.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 | |
17 | g.43067604A= | CA2260771304 | BRCA1 | c.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= | |
17 | g.43067604A>C | CA916080156 | BRCA1 | c.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 |
17 | g.43067604A>G | CA891844421 | BRCA1 | c.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 |
17 | g.43067604A>T | CA916080157 | BRCA1 | c.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 |
17 | g.43067605T>A | CA916080159 | BRCA1 | c.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 |
17 | g.43067605T>C | CA003197 | BRCA1 | c.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 |
17 | g.43067605T>G | CA916080160 | BRCA1 | c.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 |
17 | g.43067605T= | CA2260771305 | BRCA1 | c.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= | |
17 | g.43067607_43067630del | CA2580093974 | BRCA1 | c.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 |
17 | g.43067606A= | CA2260771306 | BRCA1 | c.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= | |
17 | g.43067606A>C | CA10591374 | BRCA1 | c.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 |
17 | g.43067606A>G | CA003196 | BRCA1 | c.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 |
17 | g.43067606A>T | CA10591375 | BRCA1 | c.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 |
17 | g.43067606_43067607delinsAC | CA2260771307 | BRCA1 | c.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 | |
17 | g.43067607C>A | CA003194 | BRCA1 | c.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 |
17 | g.43067607C= | CA2260771308 | BRCA1 | c.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= | |
17 | g.43067607C>G | CA10591376 | BRCA1 | c.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 |
17 | g.43067607C>T | CA003193 | BRCA1 | c.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 |
17 | g.43067608del | CA915950092 | BRCA1 | c.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 |
17 | g.43067608C>A | CA003203 | BRCA1 | c.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 |
17 | g.43067608C= | CA2260771309 | BRCA1 | c.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= | |
17 | g.43067608C>G | CA003202 | BRCA1 | c.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 |
17 | g.43067608C>T | CA003201 | BRCA1 | c.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 |
17 | g.43067611_43067698del | CA10589621 | BRCA1 | c.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 |
17 | g.43067611_43071241del | CA2581463406 | BRCA1 | c.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 | |
17 | g.43067609T>A | CA500146297 | BRCA1 | c.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 |
17 | g.43067609T>C | CA003191 | BRCA1 | c.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 |
17 | g.43067609T>G | CA500146299 | BRCA1 | c.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 |
17 | g.43067609T= | CA2260771310 | BRCA1 | c.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= | |
17 | g.43067609dup | CA1139770417 | BRCA1 | c.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 | |
17 | g.43067610G>A | CA003190 | BRCA1 | c.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 |
17 | g.43067610G>C | CA003189 | BRCA1 | c.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 |
17 | g.43067610G= | CA2260771311 | BRCA1 | c.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= | |
17 | g.43067610G>T | CA003188 | BRCA1 | c.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 |
17 | g.43067611T>A | CA10591377 | BRCA1 | c.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 |
17 | g.43067611T>C | CA003187 | BRCA1 | c.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 |
17 | g.43067611T>G | CA10591378 | BRCA1 | c.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 |
17 | g.43067611T= | CA2260771312 | BRCA1 | c.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= | |
17 | g.43067614dup | CA003186 | BRCA1 | c.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 |
17 | g.43067612T>A | CA10591379 | BRCA1 | c.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 |
17 | g.43067612T>C | CA500146301 | BRCA1 | c.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 |
17 | g.43067612T>G | CA10591380 | BRCA1 | c.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 |
17 | g.43067612T= | CA2260771313 | BRCA1 | c.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= | |
17 | g.43067613T>A | CA10591381 | BRCA1 | c.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 |
17 | g.43067613T>C | CA10591382 | BRCA1 | c.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 |
17 | g.43067613T>G | CA10591383 | BRCA1 | c.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 |
17 | g.43067613T= | CA2260771314 | BRCA1 | c.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= | |
17 | g.43067614T>A | CA003184 | BRCA1 | c.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 |
17 | g.43067614T>C | CA10591384 | BRCA1 | c.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 |
17 | g.43067614T>G | CA003183 | BRCA1 | c.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 |
17 | g.43067614T= | CA2260771315 | BRCA1 | c.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= | |
17 | g.43067615C>A | CA10591385 | BRCA1 | c.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 |
17 | g.43067615C= | CA2260771316 | BRCA1 | c.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= | |
17 | g.43067615C>G | CA10591386 | BRCA1 | c.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 |
17 | g.43067615C>T | CA10591387 | BRCA1 | c.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 |
17 | g.43067616A= | CA2260771317 | BRCA1 | c.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= | |
17 | g.43067616A>C | CA003182 | BRCA1 | c.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 |
17 | g.43067616A>G | CA003181 | BRCA1 | c.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 |
17 | g.43067616A>T | CA10591388 | BRCA1 | c.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 |
17 | g.43067617T>A | CA10591389 | BRCA1 | c.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 |
17 | g.43067617T>C | CA10591390 | BRCA1 | c.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 |
17 | g.43067617T>G | CA10591391 | BRCA1 | c.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 |
17 | g.43067617T= | CA2260771319 | BRCA1 | c.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= | |
17 | g.43067617dup | CA10589622 | BRCA1 | c.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 |
17 | g.43067617_43067620delinsTAAC | CA2260771318 | BRCA1 | c.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 | |
17 | g.43067618A= | CA2260771320 | BRCA1 | c.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= | |
17 | g.43067618A>C | CA500146305 | BRCA1 | c.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 |
17 | g.43067618A>G | CA500146306 | BRCA1 | c.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 |
17 | g.43067618A>T | CA500146307 | BRCA1 | c.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 |
17 | g.43067619del | CA2837994613 | BRCA1 | c.5061del (p.Met1688Ter) c.5064del (p.Met1689Ter) c.4938del (p.Met1647Ter) c.5058del (p.Met1687Ter) c.4986del (p.Met1663Ter) c.1752del (p.Met585Ter) c.1614del (p.Met539Ter) c.4176del (p.Met1393Ter) c.4941del (p.Met1648Ter) c.5130del (p.Met1711Ter) c.4923del (p.Met1642Ter) c.1626del (p.Met543Ter) c.5127del (p.Met1710Ter) c.1451del c.1638del (p.Met547Ter) c.*4847del (n.*4847del) n.217del c.1377del (p.Met460Ter) c.5-3667del (n.5-3667del) c.537del (p.Met180Ter) c.-98-17428del (n.-98-17428del) n.5200del n.5241del | |
17 | g.43067622_43067624dup | CA2580612634 | BRCA1 | c.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 |
17 | g.43067622_43067624del | CA003180 | BRCA1 | c.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 |
17 | g.43067619A= | CA2260771321 | BRCA1 | c.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= | |
17 | g.43067619A>C | CA10591392 | BRCA1 | c.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 |
17 | g.43067619A>G | CA10591393 | BRCA1 | c.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 |
17 | g.43067619A>T | CA10591394 | BRCA1 | c.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 |
17 | g.43067620C>A | CA10591395 | BRCA1 | c.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 |
17 | g.43067620C= | CA2260771322 | BRCA1 | c.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= | |
17 | g.43067620C>G | CA10591396 | BRCA1 | c.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 |
17 | g.43067620C>T | CA10591397 | BRCA1 | c.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 |
17 | g.43067621A= | CA2260771323 | BRCA1 | c.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= | |
17 | g.43067621A>C | CA500146309 | BRCA1 | c.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 |
17 | g.43067621A>G | CA500146310 | BRCA1 | c.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 |
17 | g.43067621A>T | CA500146312 | BRCA1 | c.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 |
17 | g.43067622A= | CA2260771325 | BRCA1 | c.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= | |
17 | g.43067622A>C | CA10591398 | BRCA1 | c.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 |
17 | g.43067622A>G | CA10591399 | BRCA1 | c.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 |
17 | g.43067622A>T | CA10591400 | BRCA1 | c.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 |
17 | g.43067622_43067623delinsAC | CA2260771324 | BRCA1 | c.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 | |
17 | g.43067622_43067623insGTTG | CA658824724 | BRCA1 | c.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 |
17 | g.43067623del | CA658656683 | BRCA1 | c.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 |
17 | g.43067623C>A | CA10591401 | BRCA1 | c.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 |
17 | g.43067623C= | CA2260771326 | BRCA1 | c.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= | |
17 | g.43067623C>G | CA10591402 | BRCA1 | c.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 |
17 | g.43067623C>T | CA10591403 | BRCA1 | c.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 |
17 | g.43067623_43067624insGTTG | CA10589623 | BRCA1 | c.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 |
17 | g.43067624A= | CA2260771327 | BRCA1 | c.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= | |
17 | g.43067624A>C | CA10591404 | BRCA1 | c.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 |
17 | g.43067624A>G | CA053761 | BRCA1 | c.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 |
17 | g.43067624A>T | CA003178 | BRCA1 | c.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 |
17 | g.43067625T>A | CA10591405 | BRCA1 | c.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 |
17 | g.43067625T>C | CA003177 | BRCA1 | c.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 |
17 | g.43067625T>G | CA10591406 | BRCA1 | c.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 |
17 | g.43067625T= | CA2260771328 | BRCA1 | c.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= | |
17 | g.43067626_43067629dup | CA10584549 | BRCA1 | c.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 |
17 | g.43067626G>A | CA10591407 | BRCA1 | c.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 |
17 | g.43067626G>C | CA10591408 | BRCA1 | c.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 |
17 | g.43067626G= | CA2260771329 | BRCA1 | c.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= | |
17 | g.43067626G>T | CA10591409 | BRCA1 | c.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 |
17 | g.43067626dup | CA003176 | BRCA1 | c.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 |
17 | g.43067627A= | CA2260771330 | BRCA1 | c.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= | |
17 | g.43067627A>C | CA16615657 | BRCA1 | c.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 |
17 | g.43067627A>G | CA500146319 | BRCA1 | c.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 |
17 | g.43067627A>T | CA500146321 | BRCA1 | c.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 |
17 | g.43067628G>A | CA003175 | BRCA1 | c.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 |
17 | g.43067628G>C | CA10591410 | BRCA1 | c.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 |
17 | g.43067628G= | CA2260771331 | BRCA1 | c.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= | |
17 | g.43067628G>T | CA10591411 | BRCA1 | c.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 |
17 | g.43067629T>A | CA10591412 | BRCA1 | c.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 |
17 | g.43067629T>C | CA003174 | BRCA1 | c.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 |
17 | g.43067629T>G | CA10591413 | BRCA1 | c.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 |
17 | g.43067629T= | CA2260771332 | BRCA1 | c.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= | |
17 | g.43067629_43067630dup | CA915950096 | BRCA1 | c.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 |
17 | g.43067630A= | CA2260771335 | BRCA1 | c.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= | |
17 | g.43067630A>C | CA500146323 | BRCA1 | c.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 |
17 | g.43067630A>G | CA053747 | BRCA1 | c.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 |
17 | g.43067630A>T | CA500146326 | BRCA1 | c.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 |
17 | g.43067630_43067631delinsAG | CA2260771334 | BRCA1 | c.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 | |
17 | g.43067630_43067631dup | CA2580093977 | BRCA1 | c.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 |
17 | g.43067630_43067632delinsAGT | CA2260771333 | BRCA1 | c.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 | |
17 | g.43067631del | CA645373160 | BRCA1 | c.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 |
17 | g.43067631G>A | CA10591414 | BRCA1 | c.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 |
17 | g.43067631G>C | CA10591415 | BRCA1 | c.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 |
17 | g.43067631G= | CA2260771336 | BRCA1 | c.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= | |
17 | g.43067631G>T | CA10591416 | BRCA1 | c.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 |
17 | g.43067631_43067632del | CA10585908 | BRCA1 | c.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 |
17 | g.43067632T>A | CA10591417 | BRCA1 | c.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 |
17 | g.43067632T>C | CA10591418 | BRCA1 | c.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 |
17 | g.43067632T>G | CA10586111 | BRCA1 | c.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 |
17 | g.43067632T= | CA2260771337 | BRCA1 | c.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= | |
17 | g.43067635_43067636dup | CA2580612637 | BRCA1 | c.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 |
17 | g.43067633C>A | CA10591419 | BRCA1 | c.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 |
17 | g.43067633C= | CA2260771338 | BRCA1 | c.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= | |
17 | g.43067633C>G | CA10591420 | BRCA1 | c.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 |
17 | g.43067633C>T | CA500146330 | BRCA1 | c.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 |
17 | g.43067633_43067638delinsCTCTTC | CA2260771339 | BRCA1 | c.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 | |
17 | g.43067634T>A | CA10591421 | BRCA1 | c.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 |
17 | g.43067634T>C | CA10591422 | BRCA1 | c.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 |
17 | g.43067634T>G | CA10591423 | BRCA1 | c.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 |
17 | g.43067634T= | CA2260771340 | BRCA1 | c.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= | |
17 | g.43067634_43067638delinsA | CA10589624 | BRCA1 | c.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 |
17 | g.43067635C>A | CA003173 | BRCA1 | c.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 |
17 | g.43067635C= | CA2260771341 | BRCA1 | c.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= | |
17 | g.43067635C>G | CA10591424 | BRCA1 | c.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 |
17 | g.43067635C>T | CA10591425 | BRCA1 | c.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 |
17 | g.43067636T>A | CA10591426 | BRCA1 | c.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 |
17 | g.43067636T>C | CA500146332 | BRCA1 | c.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 |
17 | g.43067636T>G | CA10591427 | BRCA1 | c.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 |
17 | g.43067636T= | CA2260771342 | BRCA1 | c.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= | |
17 | g.43067637T>A | CA003172 | BRCA1 | c.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 |
17 | g.43067637T>C | CA10591428 | BRCA1 | c.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 |
17 | g.43067637T>G | CA10591429 | BRCA1 | c.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 |
17 | g.43067637T= | CA2260771343 | BRCA1 | c.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= | |
17 | g.43067638C>A | CA10591430 | BRCA1 | c.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 |
17 | g.43067638C= | CA2260771344 | BRCA1 | c.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= | |
17 | g.43067638C>G | CA10591431 | BRCA1 | c.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 |
17 | g.43067638C>T | CA003171 | BRCA1 | c.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 |
17 | g.43067639A= | CA2260771346 | BRCA1 | c.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= | |
17 | g.43067639A>C | CA500146336 | BRCA1 | c.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 |
17 | g.43067639A>G | CA500146334 | BRCA1 | c.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 |
17 | g.43067639A>T | CA500146335 | BRCA1 | c.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 |
17 | g.43067639_43067640insTTAA | CA658824725 | BRCA1 | c.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 |
17 | g.43067639_43067640delinsAG | CA2260771345 | BRCA1 | c.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 | |
17 | g.43067640del | CA10589626 | BRCA1 | c.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 |
17 | g.43067640G>A | CA003169 | BRCA1 | c.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 |
17 | g.43067640G>C | CA10591432 | BRCA1 | c.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 |
17 | g.43067640G= | CA2260771347 | BRCA1 | c.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= | |
17 | g.43067640G>T | CA10591433 | BRCA1 | c.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 |
17 | g.43067640_43067644dup | CA658761225 | BRCA1 | c.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 | |
17 | g.43067641T>A | CA10591434 | BRCA1 | c.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 |
17 | g.43067641T>C | CA10591435 | BRCA1 | c.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 |
17 | g.43067641T>G | CA10580500 | BRCA1 | c.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 |
17 | g.43067641T= | CA2260771349 | BRCA1 | c.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= | |
17 | g.43067641_43067642insTAAT | CA10589625 | BRCA1 | c.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 |
17 | g.43067641_43067642delinsTA | CA2260771348 | BRCA1 | c.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 | |
17 | g.43067641_43067643delinsTAA | CA2260771350 | BRCA1 | c.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 | |
17 | g.43067643_43067646dup | CA10589627 | BRCA1 | c.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 |
17 | g.43067642A= | CA2260771351 | BRCA1 | c.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= | |
17 | g.43067642A>C | CA10591436 | BRCA1 | c.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 |
17 | g.43067642A>G | CA500146341 | BRCA1 | c.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 |
17 | g.43067642A>T | CA500146342 | BRCA1 | c.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 |
17 | g.43067642_43067643del | CA645373161 | BRCA1 | c.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 |
17 | g.43067643del | CA003168 | BRCA1 | c.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 |
17 | g.43067642_43067647delinsAATTAG | CA2260771352 | BRCA1 | c.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 | |
17 | g.43067643A= | CA2260771353 | BRCA1 | c.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= | |
17 | g.43067643A>C | CA10591437 | BRCA1 | c.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 |
17 | g.43067643A>G | CA10591438 | BRCA1 | c.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 |
17 | g.43067643A>T | CA10591439 | BRCA1 | c.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 |
17 | g.43067648_43067652del | CA003164 | BRCA1 | c.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 |
17 | g.43067644T>A | CA10591440 | BRCA1 | c.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 |
17 | g.43067644T>C | CA10591441 | BRCA1 | c.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 |
17 | g.43067644T>G | CA10591442 | BRCA1 | c.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 |
17 | g.43067644T= | CA2260771354 | BRCA1 | c.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= | |
17 | g.43067644_43067662del | CA1139770779 | BRCA1 | c.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 | |
17 | g.43067645T>A | CA500146346 | BRCA1 | c.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 |
17 | g.43067645T>C | CA053733 | BRCA1 | c.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 |
17 | g.43067645T>G | CA500146347 | BRCA1 | c.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 |
17 | g.43067645T= | CA2260771356 | BRCA1 | c.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= | |
17 | g.43067645_43067646del | CA2697559915 | BRCA1 | c.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 |
17 | g.43067645_43067656delinsTAGATTAGTTAA | CA2260771355 | BRCA1 | c.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 | |
17 | g.43067646A= | CA2260771357 | BRCA1 | c.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= | |
17 | g.43067646A>C | CA10591443 | BRCA1 | c.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 |
17 | g.43067646A>G | CA053724 | BRCA1 | c.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 |
17 | g.43067646A>T | CA10591444 | BRCA1 | c.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 |
17 | g.43067646_43067647delinsAG | CA2260771358 | BRCA1 | c.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 | |
17 | g.43067648_43067658del | CA003157 | BRCA1 | c.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 |
17 | g.43067647del | CA003166 | BRCA1 | c.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 |
17 | g.43067647G>A | CA500146351 | BRCA1 | c.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 |
17 | g.43067647G>C | CA10591445 | BRCA1 | c.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 |
17 | g.43067647G= | CA2260771360 | BRCA1 | c.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= | |
17 | g.43067647G>T | CA10591446 | BRCA1 | c.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 |
17 | g.43067647_43067648delinsGA | CA2260771359 | BRCA1 | c.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 | |
17 | g.43067648del | CA1139665576 | BRCA1 | c.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 |
17 | g.43067648A= | CA2260771362 | BRCA1 | c.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= | |
17 | g.43067648A>C | CA10591447 | BRCA1 | c.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 |
17 | g.43067648A>G | CA290827791 | BRCA1 | c.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 |
17 | g.43067648A>T | CA10591448 | BRCA1 | c.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 |
17 | g.43067648_43067652delinsATTAG | CA2260771361 | BRCA1 | c.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 | |
17 | g.43067649_43067657del | CA2580093982 | BRCA1 | c.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 |
17 | g.43067649T>A | CA10591449 | BRCA1 | c.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 |
17 | g.43067649T>C | CA10591450 | BRCA1 | c.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 |
17 | g.43067649T>G | CA10591451 | BRCA1 | c.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 |
17 | g.43067649T= | CA2260771363 | BRCA1 | c.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= | |
17 | g.43067650del | CA1139770827 | BRCA1 | c.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 | |
17 | g.43067649_43067655delinsC | CA2695225900 | BRCA1 | c.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 | |
17 | g.43067652_43067655dup | CA10589628 | BRCA1 | c.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 |
17 | g.43067652_43067655del | CA003158 | BRCA1 | c.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 |
17 | g.43067650T>A | CA10591452 | BRCA1 | c.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 |
17 | g.43067650T>C | CA10591453 | BRCA1 | c.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 |
17 | g.43067650T>G | CA10591454 | BRCA1 | c.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 |
17 | g.43067650T= | CA2260771365 | BRCA1 | c.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= | |
17 | g.43067650_43067655delinsTAGTTA | CA2260771364 | BRCA1 | c.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 | |
17 | g.43067651A= | CA2260771366 | BRCA1 | c.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= | |
17 | g.43067651A>C | CA500146358 | BRCA1 | c.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 |
17 | g.43067651A>G | CA500146359 | BRCA1 | c.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 |
17 | g.43067651A>T | CA053716 | BRCA1 | c.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 |
17 | g.43067652_43067656del | CA003156 | BRCA1 | c.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 |
17 | g.43067652del | CA658761226 | BRCA1 | c.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 | |
17 | g.43067652G>A | CA10580501 | BRCA1 | c.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 |
17 | g.43067652G>C | CA10591455 | BRCA1 | c.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 |
17 | g.43067652G= | CA2260771367 | BRCA1 | c.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= | |
17 | g.43067652G>T | CA10591456 | BRCA1 | c.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 |
17 | g.43067653T>A | CA10591457 | BRCA1 | c.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 |
17 | g.43067653T>C | CA10591458 | BRCA1 | c.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 |
17 | g.43067653T>G | CA10591459 | BRCA1 | c.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 |
17 | g.43067653T= | CA2260771368 | BRCA1 | c.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= | |
17 | g.43067654T>A | CA10591460 | BRCA1 | c.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 |
17 | g.43067654T>C | CA500146361 | BRCA1 | c.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 |
17 | g.43067654T>G | CA10591461 | BRCA1 | c.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 |
17 | g.43067654T= | CA2260771369 | BRCA1 | c.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= | |
17 | g.43067654_43067656delinsTAA | CA2260771370 | BRCA1 | c.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 | |
17 | g.43067655A= | CA2260771371 | BRCA1 | c.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= | |
17 | g.43067655A>C | CA003160 | BRCA1 | c.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 |
17 | g.43067655A>G | CA10591462 | BRCA1 | c.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 |
17 | g.43067655A>T | CA10589629 | BRCA1 | c.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 |
17 | g.43067657dup | CA327956 | BRCA1 | c.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 |
17 | g.43067657del | CA10589631 | BRCA1 | c.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 |
17 | g.43067656_43067657del | CA10589630 | BRCA1 | c.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 |
17 | g.43067656A= | CA2260771372 | BRCA1 | c.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= | |
17 | g.43067656A>C | CA10591463 | BRCA1 | c.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 |
17 | g.43067656A>G | CA500146366 | BRCA1 | c.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 |
17 | g.43067656A>T | CA10591464 | BRCA1 | c.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 |
17 | g.43067657A= | CA2260771373 | BRCA1 | c.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= | |
17 | g.43067657A>C | CA500146368 | BRCA1 | c.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 |
17 | g.43067657A>G | CA10580502 | BRCA1 | c.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 |
17 | g.43067657A>T | CA500146369 | BRCA1 | c.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 |
17 | g.43067657_43067659del | CA2582342172 | BRCA1 | c.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 |
17 | g.43067658G>A | CA053709 | BRCA1 | c.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 |
17 | g.43067658G>C | CA10591465 | BRCA1 | c.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 |
17 | g.43067658G= | CA2260771374 | BRCA1 | c.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= | |
17 | g.43067658G>T | CA10591466 | BRCA1 | c.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 |
17 | g.43067659T>A | CA10591467 | BRCA1 | c.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 |
17 | g.43067659T>C | CA10591468 | BRCA1 | c.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 |
17 | g.43067659T>G | CA10591469 | BRCA1 | c.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 |
17 | g.43067659T= | CA2260771375 | BRCA1 | c.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= | |
17 | g.43067660G>A | CA003155 | BRCA1 | c.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 |
17 | g.43067660G>C | CA10591470 | BRCA1 | c.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 |
17 | g.43067660G= | CA2260771376 | BRCA1 | c.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= | |
17 | g.43067660G>T | CA500146370 | BRCA1 | c.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 | |
17 | g.43067661A= | CA2260771377 | BRCA1 | c.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= | |
17 | g.43067661A>C | CA10591471 | BRCA1 | c.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 | |
17 | g.43067661A>G | CA10591472 | BRCA1 | c.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 |
17 | g.43067661A>T | CA10591473 | BRCA1 | c.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 |
17 | g.43067661dup | CA658824726 | BRCA1 | c.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 |
17 | g.43067662T>A | CA10591474 | BRCA1 | c.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 |
17 | g.43067662T>C | CA10591475 | BRCA1 | c.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 |
17 | g.43067662T>G | CA10591476 | BRCA1 | c.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 |
17 | g.43067662T= | CA2260771378 | BRCA1 | c.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= | |
17 | g.43067662_43067663delinsTG | CA2260771379 | BRCA1 | c.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 | |
17 | g.43067662_43067665delinsTGTG | CA2260771380 | BRCA1 | c.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 | |
17 | g.43067663del | CA10589632 | BRCA1 | c.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 |
17 | g.43067663G>A | CA500146372 | BRCA1 | c.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 |
17 | g.43067663G>C | CA10591477 | BRCA1 | c.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 |
17 | g.43067663G= | CA2260771381 | BRCA1 | c.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= | |
17 | g.43067663G>T | CA10591478 | BRCA1 | c.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 |
17 | g.43067666_43067668del | CA003154 | BRCA1 | c.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 |
17 | g.43067664T>A | CA10591479 | BRCA1 | c.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 |
17 | g.43067664T>C | CA10591480 | BRCA1 | c.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 |
17 | g.43067664T>G | CA10591481 | BRCA1 | c.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 |
17 | g.43067664T= | CA2260771382 | BRCA1 | c.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= | |
17 | g.43067665G>A | CA053698 | BRCA1 | c.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 |
17 | g.43067665G>C | CA10591482 | BRCA1 | c.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 |
17 | g.43067665G= | CA2260771383 | BRCA1 | c.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= | |
17 | g.43067665G>T | CA10591483 | BRCA1 | c.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 |
17 | g.43067666G>A | CA500146376 | BRCA1 | c.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 |
17 | g.43067666G>C | CA10591484 | BRCA1 | c.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 |
17 | g.43067666G= | CA2260771384 | BRCA1 | c.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= | |
17 | g.43067666G>T | CA10591485 | BRCA1 | c.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 |
17 | g.43067667T>A | CA10591486 | BRCA1 | c.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 |
17 | g.43067667T>C | CA10591487 | BRCA1 | c.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 |
17 | g.43067667T>G | CA10591488 | BRCA1 | c.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 |
17 | g.43067667T= | CA2260771385 | BRCA1 | c.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= | |
17 | g.43067668_43067670del | CA2580094117 | BRCA1 | c.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 |
17 | g.43067668G>A | CA003153 | BRCA1 | c.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 |
17 | g.43067668G>C | CA10591489 | BRCA1 | c.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 |
17 | g.43067668G= | CA2260771386 | BRCA1 | c.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= | |
17 | g.43067668G>T | CA10591490 | BRCA1 | c.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 |
17 | g.43067669T>A | CA10591491 | BRCA1 | c.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 |
17 | g.43067669T>C | CA500146378 | BRCA1 | c.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 |
17 | g.43067669T>G | CA10591492 | BRCA1 | c.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 |
17 | g.43067669T= | CA2260771387 | BRCA1 | c.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= | |
17 | g.43067672dup | CA10589633 | BRCA1 | c.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 |
17 | g.43067670T>A | CA10591493 | BRCA1 | c.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 |
17 | g.43067670T>C | CA10591494 | BRCA1 | c.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 |
17 | g.43067670T>G | CA10591495 | BRCA1 | c.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 |
17 | g.43067670T= | CA2260771388 | BRCA1 | c.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= | |
17 | g.43067671T>A | CA10591496 | BRCA1 | c.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 |
17 | g.43067671T>C | CA10591497 | BRCA1 | c.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 |
17 | g.43067671T>G | CA10591498 | BRCA1 | c.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 |
17 | g.43067671T= | CA2260771389 | BRCA1 | c.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= | |
17 | g.43067672T>A | CA10591499 | BRCA1 | c.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 |
17 | g.43067672T>C | CA053689 | BRCA1 | c.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 |
17 | g.43067672T>G | CA10591500 | BRCA1 | c.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 |
17 | g.43067672T= | CA2260771390 | BRCA1 | c.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= | |
17 | g.43067673C>A | CA10591501 | BRCA1 | c.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 |
17 | g.43067673C= | CA2260771391 | BRCA1 | c.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= | |
17 | g.43067673C>G | CA10591502 | BRCA1 | c.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 |
17 | g.43067673C>T | CA10591503 | BRCA1 | c.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 |
17 | g.43067673_43067674insG | CA658824727 | BRCA1 | c.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 |
17 | g.43067674T>A | CA10591504 | BRCA1 | c.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 |
17 | g.43067674T>C | CA10591505 | BRCA1 | c.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 |
17 | g.43067674T>G | CA16607661 | BRCA1 | c.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 |
17 | g.43067674T= | CA2260771392 | BRCA1 | c.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= | |
17 | g.43067675G>A | CA053683 | BRCA1 | c.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 |
17 | g.43067675G>C | CA500146383 | BRCA1 | c.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 |
17 | g.43067675G= | CA2260771393 | BRCA1 | c.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= | |
17 | g.43067675G>T | CA500146384 | BRCA1 | c.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 |
17 | g.43067676dup | CA645373162 | BRCA1 | c.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 |
17 | g.43067675_43067687dup | CA10589634 | BRCA1 | c.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 |
17 | g.43067676G>A | CA10591506 | BRCA1 | c.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 |
17 | g.43067676G>C | CA10591507 | BRCA1 | c.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 |
17 | g.43067676G= | CA2260771394 | BRCA1 | c.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= | |
17 | g.43067676G>T | CA10591508 | BRCA1 | c.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 |
17 | g.43067676_43067677delinsGC | CA2260771395 | BRCA1 | c.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 | |
17 | g.43067677del | CA003151 | BRCA1 | c.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 |
17 | g.43067677C>A | CA003152 | BRCA1 | c.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 |
17 | g.43067677C= | CA2260771396 | BRCA1 | c.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= | |
17 | g.43067677C>G | CA10591509 | BRCA1 | c.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 |
17 | g.43067677C>T | CA053663 | BRCA1 | c.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 |
17 | g.43067678A= | CA2260771397 | BRCA1 | c.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= | |
17 | g.43067678A>C | CA10591510 | BRCA1 | c.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 |
17 | g.43067678A>G | CA500146388 | BRCA1 | c.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 |
17 | g.43067678A>T | CA10591511 | BRCA1 | c.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 |
17 | g.43067680del | CA2499224384 | BRCA1 | c.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 | |
17 | g.43067679A= | CA2260771398 | BRCA1 | c.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= | |
17 | g.43067679A>C | CA10591512 | BRCA1 | c.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 |
17 | g.43067679A>G | CA10591513 | BRCA1 | c.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 |
17 | g.43067679A>T | CA10591514 | BRCA1 | c.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 |
17 | g.43067679_43067682dup | CA2695225901 | BRCA1 | c.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 | |
17 | g.43067680A= | CA2260771399 | BRCA1 | c.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= | |
17 | g.43067680A>C | CA10591515 | BRCA1 | c.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 |
17 | g.43067680A>G | CA10591516 | BRCA1 | c.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 |
17 | g.43067680A>T | CA003150 | BRCA1 | c.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 |
17 | g.43067681C>A | CA10591517 | BRCA1 | c.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 |
17 | g.43067681C= | CA2260771400 | BRCA1 | c.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= | |
17 | g.43067681C>G | CA10591518 | BRCA1 | c.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 |
17 | g.43067681C>T | CA290827874 | BRCA1 | c.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 |
17 | g.43067681dup | CA1139532535 | BRCA1 | c.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 | |
17 | g.43067682T>A | CA10591519 | BRCA1 | c.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 |
17 | g.43067682T>C | CA10591520 | BRCA1 | c.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 |
17 | g.43067682T>G | CA10591521 | BRCA1 | c.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 |
17 | g.43067682T= | CA2260771401 | BRCA1 | c.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= | |
17 | g.43067683T>A | CA003149 | BRCA1 | c.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 |
17 | g.43067683T>C | CA10591522 | BRCA1 | c.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 |
17 | g.43067683T>G | CA10591523 | BRCA1 | c.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 |
17 | g.43067683T= | CA2260771402 | BRCA1 | c.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= | |
17 | g.43067684G>A | CA003147 | BRCA1 | c.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 |
17 | g.43067684G>C | CA10591524 | BRCA1 | c.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 |
17 | g.43067684G= | CA2260771403 | BRCA1 | c.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= | |
17 | g.43067684G>T | CA003146 | BRCA1 | c.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 |
17 | g.43067685T>A | CA10591525 | BRCA1 | c.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 |
17 | g.43067685T>C | CA003145 | BRCA1 | c.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 |
17 | g.43067685T>G | CA10591526 | BRCA1 | c.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 |
17 | g.43067685T= | CA2260771404 | BRCA1 | c.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= | |
17 | g.43067685dup | CA10580503 | BRCA1 | c.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 |
17 | g.43067685_43067686dup | CA16615378 | BRCA1 | c.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 |
17 | g.43067686A= | CA2260771405 | BRCA1 | c.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= | |
17 | g.43067686A>C | CA10591527 | BRCA1 | c.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 |
17 | g.43067686A>G | CA003144 | BRCA1 | c.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 |
17 | g.43067686A>T | CA10591528 | BRCA1 | c.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 |
17 | g.43067687C>A | CA500146394 | BRCA1 | c.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 |
17 | g.43067687C= | CA2260771406 | BRCA1 | c.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= | |
17 | g.43067687C>G | CA500146395 | BRCA1 | c.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 |
17 | g.43067687C>T | CA500146396 | BRCA1 | c.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 |
17 | g.43067688A= | CA2260771407 | BRCA1 | c.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= | |
17 | g.43067688A>C | CA10591529 | BRCA1 | c.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 |
17 | g.43067688A>G | CA10591530 | BRCA1 | c.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 |
17 | g.43067688A>T | CA10591531 | BRCA1 | c.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 |
17 | g.43067689C>A | CA10591532 | BRCA1 | c.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 |
17 | g.43067689C= | CA2260771408 | BRCA1 | c.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= | |
17 | g.43067689C>G | CA10591533 | BRCA1 | c.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 |
17 | g.43067689C>T | CA003143 | BRCA1 | c.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 |
17 | g.43067690del | CA1139770803 | BRCA1 | c.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 | |
17 | g.43067690G>A | CA003142 | BRCA1 | c.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 |
17 | g.43067690G>C | CA500146398 | BRCA1 | c.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 |
17 | g.43067690G= | CA2260771409 | BRCA1 | c.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= | |
17 | g.43067690G>T | CA500146399 | BRCA1 | c.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 |
17 | g.43067690dup | CA2580093964 | BRCA1 | c.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 |
17 | g.43067691A= | CA2260771410 | BRCA1 | c.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= | |
17 | g.43067691A>C | CA10591534 | BRCA1 | c.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 |
17 | g.43067691A>G | CA003141 | BRCA1 | c.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 |
17 | g.43067691A>T | CA10591535 | BRCA1 | c.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 |
17 | g.43067692G>A | CA10591536 | BRCA1 | c.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 |
17 | g.43067692G>C | CA10591537 | BRCA1 | c.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 |
17 | g.43067692G= | CA2260771411 | BRCA1 | c.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= | |
17 | g.43067692G>T | CA10591538 | BRCA1 | c.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 |
17 | g.43067693C>A | CA053638 | BRCA1 | c.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 |
17 | g.43067693C= | CA2260771412 | BRCA1 | c.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= | |
17 | g.43067693C>G | CA10591539 | BRCA1 | c.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 |
17 | g.43067693C>T | CA10591540 | BRCA1 | c.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 |
17 | g.43067693dup | CA2581463407 | BRCA1 | c.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 | |
17 | g.43067694A= | CA2260771413 | BRCA1 | c.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= | |
17 | g.43067694A>C | CA10591541 | BRCA1 | c.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 |
17 | g.43067694A>G | CA10591542 | BRCA1 | c.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 |
17 | g.43067694A>T | CA003140 | BRCA1 | c.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 |
17 | g.43067694_43067695delinsAT | CA2260771414 | BRCA1 | c.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 | |
17 | g.43067695del | CA10602583 | BRCA1 | c.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 |
17 | g.43067695T>A | CA003139 | BRCA1 | c.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 |
17 | g.43067695T>C | CA10591543 | BRCA1 | c.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 |
17 | g.43067695T>G | CA10591544 | BRCA1 | c.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 |
17 | g.43067695T= | CA2260771415 | BRCA1 | c.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= | |
17 | g.43067696C>A | CA10591545 | BRCA1 | c.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 |
17 | g.43067696C= | CA913190340 | BRCA1 | c.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= | |
17 | g.43067696C>G | CA10591546 | BRCA1 | c.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 |
17 | g.43067696C>T | CA003130 | BRCA1 | c.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 |
17 | g.43067697T>A | CA10591547 | BRCA1 | c.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 |
17 | g.43067697T>C | CA003132 | BRCA1 | c.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 |
17 | g.43067697T>G | CA10583555 | BRCA1 | c.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 |
17 | g.43067697T= | CA2260771416 | BRCA1 | c.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= | |
17 | g.43067698G>A | CA658653696 | BRCA1 | c.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 |
17 | g.43067698G>C | CA003133 | BRCA1 | c.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 |
17 | g.43067698G= | CA2260771418 | BRCA1 | c.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= | |
17 | g.43067698G>T | CA916080165 | BRCA1 | c.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 |
17 | g.43067698_43067699delinsGA | CA2260771417 | BRCA1 | c.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 | |
17 | g.43067699A= | CA2260771419 | BRCA1 | c.4984-4T= (n.4984-4T=) c.4987-4T= (n.4987-4T=) c.4861-4T= (n.4861-4T=) c.4981-4T= (n.4981-4T=) c.4909-4T= (n.4909-4T=) c.1675-4T= (n.1675-4T=) c.1537-4T= (n.1537-4T=) c.4099-4T= (n.4099-4T=) c.4864-4T= (n.4864-4T=) c.5053-4T= (n.5053-4T=) c.4846-4T= (n.4846-4T=) c.1549-4T= (n.1549-4T=) c.5050-4T= (n.5050-4T=) c.1374-4T= c.1561-4T= (n.1561-4T=) c.*4770-4T= (n.*4770-4T=) n.140-4T= c.1300-4T= (n.1300-4T=) c.5-3748T= (n.5-3748T=) c.460-4T= (n.460-4T=) c.-98-17509T= (n.-98-17509T=) n.5123-4T= n.5164-4T= | |
17 | g.43067699A>C | CA626081640 | BRCA1 | c.4984-4T>G (n.4984-4T>G) c.4987-4T>G (n.4987-4T>G) c.4861-4T>G (n.4861-4T>G) c.4981-4T>G (n.4981-4T>G) c.4909-4T>G (n.4909-4T>G) c.1675-4T>G (n.1675-4T>G) c.1537-4T>G (n.1537-4T>G) c.4099-4T>G (n.4099-4T>G) c.4864-4T>G (n.4864-4T>G) c.5053-4T>G (n.5053-4T>G) c.4846-4T>G (n.4846-4T>G) c.1549-4T>G (n.1549-4T>G) c.5050-4T>G (n.5050-4T>G) c.1374-4T>G c.1561-4T>G (n.1561-4T>G) c.*4770-4T>G (n.*4770-4T>G) n.140-4T>G c.1300-4T>G (n.1300-4T>G) c.5-3748T>G (n.5-3748T>G) c.460-4T>G (n.460-4T>G) c.-98-17509T>G (n.-98-17509T>G) n.5123-4T>G n.5164-4T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43067699A>G | CA916080166 | BRCA1 | c.4984-4T>C (n.4984-4T>C) c.4987-4T>C (n.4987-4T>C) c.4861-4T>C (n.4861-4T>C) c.4981-4T>C (n.4981-4T>C) c.4909-4T>C (n.4909-4T>C) c.1675-4T>C (n.1675-4T>C) c.1537-4T>C (n.1537-4T>C) c.4099-4T>C (n.4099-4T>C) c.4864-4T>C (n.4864-4T>C) c.5053-4T>C (n.5053-4T>C) c.4846-4T>C (n.4846-4T>C) c.1549-4T>C (n.1549-4T>C) c.5050-4T>C (n.5050-4T>C) c.1374-4T>C c.1561-4T>C (n.1561-4T>C) c.*4770-4T>C (n.*4770-4T>C) n.140-4T>C c.1300-4T>C (n.1300-4T>C) c.5-3748T>C (n.5-3748T>C) c.460-4T>C (n.460-4T>C) c.-98-17509T>C (n.-98-17509T>C) n.5123-4T>C n.5164-4T>C | ClinVar dbSNP |
17 | g.43067699A>T | CA916080167 | BRCA1 | c.4984-4T>A (n.4984-4T>A) c.4987-4T>A (n.4987-4T>A) c.4861-4T>A (n.4861-4T>A) c.4981-4T>A (n.4981-4T>A) c.4909-4T>A (n.4909-4T>A) c.1675-4T>A (n.1675-4T>A) c.1537-4T>A (n.1537-4T>A) c.4099-4T>A (n.4099-4T>A) c.4864-4T>A (n.4864-4T>A) c.5053-4T>A (n.5053-4T>A) c.4846-4T>A (n.4846-4T>A) c.1549-4T>A (n.1549-4T>A) c.5050-4T>A (n.5050-4T>A) c.1374-4T>A c.1561-4T>A (n.1561-4T>A) c.*4770-4T>A (n.*4770-4T>A) n.140-4T>A c.1300-4T>A (n.1300-4T>A) c.5-3748T>A (n.5-3748T>A) c.460-4T>A (n.460-4T>A) c.-98-17509T>A (n.-98-17509T>A) n.5123-4T>A n.5164-4T>A | ClinVar dbSNP |
17 | g.43067701del | CA913190341 | BRCA1 | c.4984-4del (n.4984-4del) c.4987-4del (n.4987-4del) c.4861-4del (n.4861-4del) c.4981-4del (n.4981-4del) c.4909-4del (n.4909-4del) c.1675-4del (n.1675-4del) c.1537-4del (n.1537-4del) c.4099-4del (n.4099-4del) c.4864-4del (n.4864-4del) c.5053-4del (n.5053-4del) c.4846-4del (n.4846-4del) c.1549-4del (n.1549-4del) c.5050-4del (n.5050-4del) c.1374-4del c.1561-4del (n.1561-4del) c.*4770-4del (n.*4770-4del) n.140-4del c.1300-4del (n.1300-4del) c.5-3748del (n.5-3748del) c.460-4del (n.460-4del) c.-98-17509del (n.-98-17509del) n.5123-4del n.5164-4del | ClinVar dbSNP |
17 | g.43067700_43067701del | CA2522477307 | BRCA1 | c.4984-5_4984-4del (n.4984-5_4984-4del) c.4987-5_4987-4del (n.4987-5_4987-4del) c.4861-5_4861-4del (n.4861-5_4861-4del) c.4981-5_4981-4del (n.4981-5_4981-4del) c.4909-5_4909-4del (n.4909-5_4909-4del) c.1675-5_1675-4del (n.1675-5_1675-4del) c.1537-5_1537-4del (n.1537-5_1537-4del) c.4099-5_4099-4del (n.4099-5_4099-4del) c.4864-5_4864-4del (n.4864-5_4864-4del) c.5053-5_5053-4del (n.5053-5_5053-4del) c.4846-5_4846-4del (n.4846-5_4846-4del) c.1549-5_1549-4del (n.1549-5_1549-4del) c.5050-5_5050-4del (n.5050-5_5050-4del) c.1374-5_1374-4del c.1561-5_1561-4del (n.1561-5_1561-4del) c.*4770-5_*4770-4del (n.*4770-5_*4770-4del) n.140-5_140-4del c.1300-5_1300-4del (n.1300-5_1300-4del) c.5-3749_5-3748del (n.5-3749_5-3748del) c.460-5_460-4del (n.460-5_460-4del) c.-98-17510_-98-17509del (n.-98-17510_-98-17509del) n.5123-5_5123-4del n.5164-5_5164-4del | |
17 | g.43067700A= | CA2260771420 | BRCA1 | c.4984-5T= (n.4984-5T=) c.4987-5T= (n.4987-5T=) c.4861-5T= (n.4861-5T=) c.4981-5T= (n.4981-5T=) c.4909-5T= (n.4909-5T=) c.1675-5T= (n.1675-5T=) c.1537-5T= (n.1537-5T=) c.4099-5T= (n.4099-5T=) c.4864-5T= (n.4864-5T=) c.5053-5T= (n.5053-5T=) c.4846-5T= (n.4846-5T=) c.1549-5T= (n.1549-5T=) c.5050-5T= (n.5050-5T=) c.1374-5T= c.1561-5T= (n.1561-5T=) c.*4770-5T= (n.*4770-5T=) n.140-5T= c.1300-5T= (n.1300-5T=) c.5-3749T= (n.5-3749T=) c.460-5T= (n.460-5T=) c.-98-17510T= (n.-98-17510T=) n.5123-5T= n.5164-5T= | |
17 | g.43067700A>C | CA916080168 | BRCA1 | c.4984-5T>G (n.4984-5T>G) c.4987-5T>G (n.4987-5T>G) c.4861-5T>G (n.4861-5T>G) c.4981-5T>G (n.4981-5T>G) c.4909-5T>G (n.4909-5T>G) c.1675-5T>G (n.1675-5T>G) c.1537-5T>G (n.1537-5T>G) c.4099-5T>G (n.4099-5T>G) c.4864-5T>G (n.4864-5T>G) c.5053-5T>G (n.5053-5T>G) c.4846-5T>G (n.4846-5T>G) c.1549-5T>G (n.1549-5T>G) c.5050-5T>G (n.5050-5T>G) c.1374-5T>G c.1561-5T>G (n.1561-5T>G) c.*4770-5T>G (n.*4770-5T>G) n.140-5T>G c.1300-5T>G (n.1300-5T>G) c.5-3749T>G (n.5-3749T>G) c.460-5T>G (n.460-5T>G) c.-98-17510T>G (n.-98-17510T>G) n.5123-5T>G n.5164-5T>G | ClinVar dbSNP |
17 | g.43067700A>G | CA10602584 | BRCA1 | c.4984-5T>C (n.4984-5T>C) c.4987-5T>C (n.4987-5T>C) c.4861-5T>C (n.4861-5T>C) c.4981-5T>C (n.4981-5T>C) c.4909-5T>C (n.4909-5T>C) c.1675-5T>C (n.1675-5T>C) c.1537-5T>C (n.1537-5T>C) c.4099-5T>C (n.4099-5T>C) c.4864-5T>C (n.4864-5T>C) c.5053-5T>C (n.5053-5T>C) c.4846-5T>C (n.4846-5T>C) c.1549-5T>C (n.1549-5T>C) c.5050-5T>C (n.5050-5T>C) c.1374-5T>C c.1561-5T>C (n.1561-5T>C) c.*4770-5T>C (n.*4770-5T>C) n.140-5T>C c.1300-5T>C (n.1300-5T>C) c.5-3749T>C (n.5-3749T>C) c.460-5T>C (n.460-5T>C) c.-98-17510T>C (n.-98-17510T>C) n.5123-5T>C n.5164-5T>C | ClinVar dbSNP |
17 | g.43067700A>T | CA003135 | BRCA1 | c.4984-5T>A (n.4984-5T>A) c.4987-5T>A (n.4987-5T>A) c.4861-5T>A (n.4861-5T>A) c.4981-5T>A (n.4981-5T>A) c.4909-5T>A (n.4909-5T>A) c.1675-5T>A (n.1675-5T>A) c.1537-5T>A (n.1537-5T>A) c.4099-5T>A (n.4099-5T>A) c.4864-5T>A (n.4864-5T>A) c.5053-5T>A (n.5053-5T>A) c.4846-5T>A (n.4846-5T>A) c.1549-5T>A (n.1549-5T>A) c.5050-5T>A (n.5050-5T>A) c.1374-5T>A c.1561-5T>A (n.1561-5T>A) c.*4770-5T>A (n.*4770-5T>A) n.140-5T>A c.1300-5T>A (n.1300-5T>A) c.5-3749T>A (n.5-3749T>A) c.460-5T>A (n.460-5T>A) c.-98-17510T>A (n.-98-17510T>A) n.5123-5T>A n.5164-5T>A | ClinVar dbSNP |
17 | g.43067700_43067701insCTGC | CA2523951672 | BRCA1 | c.4984-6_4984-5insGCAG (n.4984-6_4984-5insGCAG) c.4987-6_4987-5insGCAG (n.4987-6_4987-5insGCAG) c.4861-6_4861-5insGCAG (n.4861-6_4861-5insGCAG) c.4981-6_4981-5insGCAG (n.4981-6_4981-5insGCAG) c.4909-6_4909-5insGCAG (n.4909-6_4909-5insGCAG) c.1675-6_1675-5insGCAG (n.1675-6_1675-5insGCAG) c.1537-6_1537-5insGCAG (n.1537-6_1537-5insGCAG) c.4099-6_4099-5insGCAG (n.4099-6_4099-5insGCAG) c.4864-6_4864-5insGCAG (n.4864-6_4864-5insGCAG) c.5053-6_5053-5insGCAG (n.5053-6_5053-5insGCAG) c.4846-6_4846-5insGCAG (n.4846-6_4846-5insGCAG) c.1549-6_1549-5insGCAG (n.1549-6_1549-5insGCAG) c.5050-6_5050-5insGCAG (n.5050-6_5050-5insGCAG) c.1374-6_1374-5insGCAG c.1561-6_1561-5insGCAG (n.1561-6_1561-5insGCAG) c.*4770-6_*4770-5insGCAG (n.*4770-6_*4770-5insGCAG) n.140-6_140-5insGCAG c.1300-6_1300-5insGCAG (n.1300-6_1300-5insGCAG) c.5-3750_5-3749insGCAG (n.5-3750_5-3749insGCAG) c.460-6_460-5insGCAG (n.460-6_460-5insGCAG) c.-98-17511_-98-17510insGCAG (n.-98-17511_-98-17510insGCAG) n.5123-6_5123-5insGCAG n.5164-6_5164-5insGCAG | |
17 | g.43067701A= | CA2260771421 | BRCA1 | c.4984-6T= (n.4984-6T=) c.4987-6T= (n.4987-6T=) c.4861-6T= (n.4861-6T=) c.4981-6T= (n.4981-6T=) c.4909-6T= (n.4909-6T=) c.1675-6T= (n.1675-6T=) c.1537-6T= (n.1537-6T=) c.4099-6T= (n.4099-6T=) c.4864-6T= (n.4864-6T=) c.5053-6T= (n.5053-6T=) c.4846-6T= (n.4846-6T=) c.1549-6T= (n.1549-6T=) c.5050-6T= (n.5050-6T=) c.1374-6T= c.1561-6T= (n.1561-6T=) c.*4770-6T= (n.*4770-6T=) n.140-6T= c.1300-6T= (n.1300-6T=) c.5-3750T= (n.5-3750T=) c.460-6T= (n.460-6T=) c.-98-17511T= (n.-98-17511T=) n.5123-6T= n.5164-6T= | |
17 | g.43067701A>C | CA916080171 | BRCA1 | c.4984-6T>G (n.4984-6T>G) c.4987-6T>G (n.4987-6T>G) c.4861-6T>G (n.4861-6T>G) c.4981-6T>G (n.4981-6T>G) c.4909-6T>G (n.4909-6T>G) c.1675-6T>G (n.1675-6T>G) c.1537-6T>G (n.1537-6T>G) c.4099-6T>G (n.4099-6T>G) c.4864-6T>G (n.4864-6T>G) c.5053-6T>G (n.5053-6T>G) c.4846-6T>G (n.4846-6T>G) c.1549-6T>G (n.1549-6T>G) c.5050-6T>G (n.5050-6T>G) c.1374-6T>G c.1561-6T>G (n.1561-6T>G) c.*4770-6T>G (n.*4770-6T>G) n.140-6T>G c.1300-6T>G (n.1300-6T>G) c.5-3750T>G (n.5-3750T>G) c.460-6T>G (n.460-6T>G) c.-98-17511T>G (n.-98-17511T>G) n.5123-6T>G n.5164-6T>G | ClinVar dbSNP |
17 | g.43067701A>G | CA916080170 | BRCA1 | c.4984-6T>C (n.4984-6T>C) c.4987-6T>C (n.4987-6T>C) c.4861-6T>C (n.4861-6T>C) c.4981-6T>C (n.4981-6T>C) c.4909-6T>C (n.4909-6T>C) c.1675-6T>C (n.1675-6T>C) c.1537-6T>C (n.1537-6T>C) c.4099-6T>C (n.4099-6T>C) c.4864-6T>C (n.4864-6T>C) c.5053-6T>C (n.5053-6T>C) c.4846-6T>C (n.4846-6T>C) c.1549-6T>C (n.1549-6T>C) c.5050-6T>C (n.5050-6T>C) c.1374-6T>C c.1561-6T>C (n.1561-6T>C) c.*4770-6T>C (n.*4770-6T>C) n.140-6T>C c.1300-6T>C (n.1300-6T>C) c.5-3750T>C (n.5-3750T>C) c.460-6T>C (n.460-6T>C) c.-98-17511T>C (n.-98-17511T>C) n.5123-6T>C n.5164-6T>C | ClinVar dbSNP |
17 | g.43067701A>T | CA916080169 | BRCA1 | c.4984-6T>A (n.4984-6T>A) c.4987-6T>A (n.4987-6T>A) c.4861-6T>A (n.4861-6T>A) c.4981-6T>A (n.4981-6T>A) c.4909-6T>A (n.4909-6T>A) c.1675-6T>A (n.1675-6T>A) c.1537-6T>A (n.1537-6T>A) c.4099-6T>A (n.4099-6T>A) c.4864-6T>A (n.4864-6T>A) c.5053-6T>A (n.5053-6T>A) c.4846-6T>A (n.4846-6T>A) c.1549-6T>A (n.1549-6T>A) c.5050-6T>A (n.5050-6T>A) c.1374-6T>A c.1561-6T>A (n.1561-6T>A) c.*4770-6T>A (n.*4770-6T>A) n.140-6T>A c.1300-6T>A (n.1300-6T>A) c.5-3750T>A (n.5-3750T>A) c.460-6T>A (n.460-6T>A) c.-98-17511T>A (n.-98-17511T>A) n.5123-6T>A n.5164-6T>A | ClinVar dbSNP |
17 | g.43067702T>A | CA916080173 | BRCA1 | c.4984-7A>T (n.4984-7A>T) c.4987-7A>T (n.4987-7A>T) c.4861-7A>T (n.4861-7A>T) c.4981-7A>T (n.4981-7A>T) c.4909-7A>T (n.4909-7A>T) c.1675-7A>T (n.1675-7A>T) c.1537-7A>T (n.1537-7A>T) c.4099-7A>T (n.4099-7A>T) c.4864-7A>T (n.4864-7A>T) c.5053-7A>T (n.5053-7A>T) c.4846-7A>T (n.4846-7A>T) c.1549-7A>T (n.1549-7A>T) c.5050-7A>T (n.5050-7A>T) c.1374-7A>T c.1561-7A>T (n.1561-7A>T) c.*4770-7A>T (n.*4770-7A>T) n.140-7A>T c.1300-7A>T (n.1300-7A>T) c.5-3751A>T (n.5-3751A>T) c.460-7A>T (n.460-7A>T) c.-98-17512A>T (n.-98-17512A>T) n.5123-7A>T n.5164-7A>T | ClinVar dbSNP |
17 | g.43067702T>C | CA916080172 | BRCA1 | c.4984-7A>G (n.4984-7A>G) c.4987-7A>G (n.4987-7A>G) c.4861-7A>G (n.4861-7A>G) c.4981-7A>G (n.4981-7A>G) c.4909-7A>G (n.4909-7A>G) c.1675-7A>G (n.1675-7A>G) c.1537-7A>G (n.1537-7A>G) c.4099-7A>G (n.4099-7A>G) c.4864-7A>G (n.4864-7A>G) c.5053-7A>G (n.5053-7A>G) c.4846-7A>G (n.4846-7A>G) c.1549-7A>G (n.1549-7A>G) c.5050-7A>G (n.5050-7A>G) c.1374-7A>G c.1561-7A>G (n.1561-7A>G) c.*4770-7A>G (n.*4770-7A>G) n.140-7A>G c.1300-7A>G (n.1300-7A>G) c.5-3751A>G (n.5-3751A>G) c.460-7A>G (n.460-7A>G) c.-98-17512A>G (n.-98-17512A>G) n.5123-7A>G n.5164-7A>G | ClinVar dbSNP |
17 | g.43067702T>G | CA290827961 | BRCA1 | c.4984-7A>C (n.4984-7A>C) c.4987-7A>C (n.4987-7A>C) c.4861-7A>C (n.4861-7A>C) c.4981-7A>C (n.4981-7A>C) c.4909-7A>C (n.4909-7A>C) c.1675-7A>C (n.1675-7A>C) c.1537-7A>C (n.1537-7A>C) c.4099-7A>C (n.4099-7A>C) c.4864-7A>C (n.4864-7A>C) c.5053-7A>C (n.5053-7A>C) c.4846-7A>C (n.4846-7A>C) c.1549-7A>C (n.1549-7A>C) c.5050-7A>C (n.5050-7A>C) c.1374-7A>C c.1561-7A>C (n.1561-7A>C) c.*4770-7A>C (n.*4770-7A>C) n.140-7A>C c.1300-7A>C (n.1300-7A>C) c.5-3751A>C (n.5-3751A>C) c.460-7A>C (n.460-7A>C) c.-98-17512A>C (n.-98-17512A>C) n.5123-7A>C n.5164-7A>C | ClinVar dbSNP |
17 | g.43067702T= | CA2260771422 | BRCA1 | c.4984-7A= (n.4984-7A=) c.4987-7A= (n.4987-7A=) c.4861-7A= (n.4861-7A=) c.4981-7A= (n.4981-7A=) c.4909-7A= (n.4909-7A=) c.1675-7A= (n.1675-7A=) c.1537-7A= (n.1537-7A=) c.4099-7A= (n.4099-7A=) c.4864-7A= (n.4864-7A=) c.5053-7A= (n.5053-7A=) c.4846-7A= (n.4846-7A=) c.1549-7A= (n.1549-7A=) c.5050-7A= (n.5050-7A=) c.1374-7A= c.1561-7A= (n.1561-7A=) c.*4770-7A= (n.*4770-7A=) n.140-7A= c.1300-7A= (n.1300-7A=) c.5-3751A= (n.5-3751A=) c.460-7A= (n.460-7A=) c.-98-17512A= (n.-98-17512A=) n.5123-7A= n.5164-7A= | |
17 | g.43067703T>A | CA916080174 | BRCA1 | c.4984-8A>T (n.4984-8A>T) c.4987-8A>T (n.4987-8A>T) c.4861-8A>T (n.4861-8A>T) c.4981-8A>T (n.4981-8A>T) c.4909-8A>T (n.4909-8A>T) c.1675-8A>T (n.1675-8A>T) c.1537-8A>T (n.1537-8A>T) c.4099-8A>T (n.4099-8A>T) c.4864-8A>T (n.4864-8A>T) c.5053-8A>T (n.5053-8A>T) c.4846-8A>T (n.4846-8A>T) c.1549-8A>T (n.1549-8A>T) c.5050-8A>T (n.5050-8A>T) c.1374-8A>T c.1561-8A>T (n.1561-8A>T) c.*4770-8A>T (n.*4770-8A>T) n.140-8A>T c.1300-8A>T (n.1300-8A>T) c.5-3752A>T (n.5-3752A>T) c.460-8A>T (n.460-8A>T) c.-98-17513A>T (n.-98-17513A>T) n.5123-8A>T n.5164-8A>T | ClinVar dbSNP |
17 | g.43067703T>C | CA915950098 | BRCA1 | c.4984-8A>G (n.4984-8A>G) c.4987-8A>G (n.4987-8A>G) c.4861-8A>G (n.4861-8A>G) c.4981-8A>G (n.4981-8A>G) c.4909-8A>G (n.4909-8A>G) c.1675-8A>G (n.1675-8A>G) c.1537-8A>G (n.1537-8A>G) c.4099-8A>G (n.4099-8A>G) c.4864-8A>G (n.4864-8A>G) c.5053-8A>G (n.5053-8A>G) c.4846-8A>G (n.4846-8A>G) c.1549-8A>G (n.1549-8A>G) c.5050-8A>G (n.5050-8A>G) c.1374-8A>G c.1561-8A>G (n.1561-8A>G) c.*4770-8A>G (n.*4770-8A>G) n.140-8A>G c.1300-8A>G (n.1300-8A>G) c.5-3752A>G (n.5-3752A>G) c.460-8A>G (n.460-8A>G) c.-98-17513A>G (n.-98-17513A>G) n.5123-8A>G n.5164-8A>G | ClinVar dbSNP |
17 | g.43067703T>G | CA916080175 | BRCA1 | c.4984-8A>C (n.4984-8A>C) c.4987-8A>C (n.4987-8A>C) c.4861-8A>C (n.4861-8A>C) c.4981-8A>C (n.4981-8A>C) c.4909-8A>C (n.4909-8A>C) c.1675-8A>C (n.1675-8A>C) c.1537-8A>C (n.1537-8A>C) c.4099-8A>C (n.4099-8A>C) c.4864-8A>C (n.4864-8A>C) c.5053-8A>C (n.5053-8A>C) c.4846-8A>C (n.4846-8A>C) c.1549-8A>C (n.1549-8A>C) c.5050-8A>C (n.5050-8A>C) c.1374-8A>C c.1561-8A>C (n.1561-8A>C) c.*4770-8A>C (n.*4770-8A>C) n.140-8A>C c.1300-8A>C (n.1300-8A>C) c.5-3752A>C (n.5-3752A>C) c.460-8A>C (n.460-8A>C) c.-98-17513A>C (n.-98-17513A>C) n.5123-8A>C n.5164-8A>C | ClinVar dbSNP |
17 | g.43067703T= | CA2260771423 | BRCA1 | c.4984-8A= (n.4984-8A=) c.4987-8A= (n.4987-8A=) c.4861-8A= (n.4861-8A=) c.4981-8A= (n.4981-8A=) c.4909-8A= (n.4909-8A=) c.1675-8A= (n.1675-8A=) c.1537-8A= (n.1537-8A=) c.4099-8A= (n.4099-8A=) c.4864-8A= (n.4864-8A=) c.5053-8A= (n.5053-8A=) c.4846-8A= (n.4846-8A=) c.1549-8A= (n.1549-8A=) c.5050-8A= (n.5050-8A=) c.1374-8A= c.1561-8A= (n.1561-8A=) c.*4770-8A= (n.*4770-8A=) n.140-8A= c.1300-8A= (n.1300-8A=) c.5-3752A= (n.5-3752A=) c.460-8A= (n.460-8A=) c.-98-17513A= (n.-98-17513A=) n.5123-8A= n.5164-8A= | |
17 | g.43067704A= | CA2260771424 | BRCA1 | c.4984-9T= (n.4984-9T=) c.4987-9T= (n.4987-9T=) c.4861-9T= (n.4861-9T=) c.4981-9T= (n.4981-9T=) c.4909-9T= (n.4909-9T=) c.1675-9T= (n.1675-9T=) c.1537-9T= (n.1537-9T=) c.4099-9T= (n.4099-9T=) c.4864-9T= (n.4864-9T=) c.5053-9T= (n.5053-9T=) c.4846-9T= (n.4846-9T=) c.1549-9T= (n.1549-9T=) c.5050-9T= (n.5050-9T=) c.1374-9T= c.1561-9T= (n.1561-9T=) c.*4770-9T= (n.*4770-9T=) n.140-9T= c.1300-9T= (n.1300-9T=) c.5-3753T= (n.5-3753T=) c.460-9T= (n.460-9T=) c.-98-17514T= (n.-98-17514T=) n.5123-9T= n.5164-9T= | |
17 | g.43067704A>C | CA916080178 | BRCA1 | c.4984-9T>G (n.4984-9T>G) c.4987-9T>G (n.4987-9T>G) c.4861-9T>G (n.4861-9T>G) c.4981-9T>G (n.4981-9T>G) c.4909-9T>G (n.4909-9T>G) c.1675-9T>G (n.1675-9T>G) c.1537-9T>G (n.1537-9T>G) c.4099-9T>G (n.4099-9T>G) c.4864-9T>G (n.4864-9T>G) c.5053-9T>G (n.5053-9T>G) c.4846-9T>G (n.4846-9T>G) c.1549-9T>G (n.1549-9T>G) c.5050-9T>G (n.5050-9T>G) c.1374-9T>G c.1561-9T>G (n.1561-9T>G) c.*4770-9T>G (n.*4770-9T>G) n.140-9T>G c.1300-9T>G (n.1300-9T>G) c.5-3753T>G (n.5-3753T>G) c.460-9T>G (n.460-9T>G) c.-98-17514T>G (n.-98-17514T>G) n.5123-9T>G n.5164-9T>G | ClinVar dbSNP |
17 | g.43067704A>G | CA916080177 | BRCA1 | c.4984-9T>C (n.4984-9T>C) c.4987-9T>C (n.4987-9T>C) c.4861-9T>C (n.4861-9T>C) c.4981-9T>C (n.4981-9T>C) c.4909-9T>C (n.4909-9T>C) c.1675-9T>C (n.1675-9T>C) c.1537-9T>C (n.1537-9T>C) c.4099-9T>C (n.4099-9T>C) c.4864-9T>C (n.4864-9T>C) c.5053-9T>C (n.5053-9T>C) c.4846-9T>C (n.4846-9T>C) c.1549-9T>C (n.1549-9T>C) c.5050-9T>C (n.5050-9T>C) c.1374-9T>C c.1561-9T>C (n.1561-9T>C) c.*4770-9T>C (n.*4770-9T>C) n.140-9T>C c.1300-9T>C (n.1300-9T>C) c.5-3753T>C (n.5-3753T>C) c.460-9T>C (n.460-9T>C) c.-98-17514T>C (n.-98-17514T>C) n.5123-9T>C n.5164-9T>C | ClinVar dbSNP gnomAD v4 |
17 | g.43067704A>T | CA916080176 | BRCA1 | c.4984-9T>A (n.4984-9T>A) c.4987-9T>A (n.4987-9T>A) c.4861-9T>A (n.4861-9T>A) c.4981-9T>A (n.4981-9T>A) c.4909-9T>A (n.4909-9T>A) c.1675-9T>A (n.1675-9T>A) c.1537-9T>A (n.1537-9T>A) c.4099-9T>A (n.4099-9T>A) c.4864-9T>A (n.4864-9T>A) c.5053-9T>A (n.5053-9T>A) c.4846-9T>A (n.4846-9T>A) c.1549-9T>A (n.1549-9T>A) c.5050-9T>A (n.5050-9T>A) c.1374-9T>A c.1561-9T>A (n.1561-9T>A) c.*4770-9T>A (n.*4770-9T>A) n.140-9T>A c.1300-9T>A (n.1300-9T>A) c.5-3753T>A (n.5-3753T>A) c.460-9T>A (n.460-9T>A) c.-98-17514T>A (n.-98-17514T>A) n.5123-9T>A n.5164-9T>A | ClinVar dbSNP |