| 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.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 | ClinVar |
| 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.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.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 |