UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.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.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.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.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.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.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 |