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.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.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.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.43070037_43072667del | CA10602585 | BRCA1 | c.4673-1420_4983+900del c.4676-1420_4986+900del c.4550-1420_4860+900del c.4670-1420_4980+900del c.4598-1420_4908+900del c.1364-1420_1674+900del c.1226-1420_1536+900del c.3788-1420_4098+900del c.4553-1420_4863+900del c.4742-1420_5052+900del c.4535-1420_4845+900del c.1238-1420_1548+900del c.4739-1420_5049+900del c.1063-1420_1373+900del c.1250-1420_1560+900del c.*4459-1420_*4769+900del c.989-1420_1299+900del c.5-8707_5-6077del (n.5-8707_5-6077del) c.149-1420_459+900del c.-98-22468_-98-19838del (n.-98-22468_-98-19838del) n.4812-1420_5122+900del n.4853-1420_5163+900del | ClinVar |
| 17 | g.43070145_43072775del | CA2697559917 | BRCA1 | c.4673-1528_4983+792del c.4676-1528_4986+792del c.4550-1528_4860+792del c.4670-1528_4980+792del c.4598-1528_4908+792del c.1364-1528_1674+792del c.1226-1528_1536+792del c.3788-1528_4098+792del c.4553-1528_4863+792del c.4742-1528_5052+792del c.4535-1528_4845+792del c.1238-1528_1548+792del c.4739-1528_5049+792del c.1063-1528_1373+792del c.1250-1528_1560+792del c.*4459-1528_*4769+792del c.989-1528_1299+792del c.5-8815_5-6185del (n.5-8815_5-6185del) c.149-1528_459+792del c.-98-22576_-98-19946del (n.-98-22576_-98-19946del) n.4812-1528_5122+792del n.4853-1528_5163+792del | ClinVar |
| 17 | g.43070208_43078359dup | CA16043350 | BRCA1 | c.4358-1732_4983+736dup c.4358-1729_4986+736dup c.4232-1729_4860+736dup c.4352-1729_4980+736dup c.4280-1729_4908+736dup c.1046-1729_1674+736dup c.908-1729_1536+736dup c.3470-1729_4098+736dup c.4235-1729_4863+736dup c.4423+991_5052+736dup c.4217-1729_4845+736dup c.923-1732_1548+736dup c.4423+991_5049+736dup c.744+991_1373+736dup c.932-1729_1560+736dup c.*4141-1729_*4769+736dup c.1049-1732_1674+736dup c.671-1729_1299+736dup c.5-14392_5-6241dup (n.5-14392_5-6241dup) c.-43-3822_459+736dup c.-98-28153_-98-20002dup (n.-98-28153_-98-20002dup) n.4494-1729_5122+736dup n.4535-1729_5163+736dup | |
| 17 | g.43070192_43078360dup | CA2580612611 | BRCA1 | c.4358-1749_4983+736dup c.4358-1746_4986+736dup c.4232-1746_4860+736dup c.4352-1746_4980+736dup c.4280-1746_4908+736dup c.1046-1746_1674+736dup c.908-1746_1536+736dup c.3470-1746_4098+736dup c.4235-1746_4863+736dup c.4423+974_5052+736dup c.4217-1746_4845+736dup c.923-1749_1548+736dup c.4423+974_5049+736dup c.744+974_1373+736dup c.932-1746_1560+736dup c.*4141-1746_*4769+736dup c.1049-1749_1674+736dup c.671-1746_1299+736dup c.5-14409_5-6241dup (n.5-14409_5-6241dup) c.-43-3839_459+736dup c.-98-28170_-98-20002dup (n.-98-28170_-98-20002dup) n.4494-1746_5122+736dup n.4535-1746_5163+736dup | |
| 17 | g.43070972_43071054delinsTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCA | CA2260772786 | BRCA1 | c.4857_4939delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr1619=) c.4860_4942delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr1620=) c.4734_4816delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr1578=) c.4854_4936delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr1618=) c.4782_4864delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr1594=) c.1548_1630delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr516=) c.1410_1492delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr470=) c.3972_4054delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr1324=) c.4737_4819delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr1579=) c.4926_5008delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr1642=) c.4719_4801delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr1573=) c.1422_1504delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr474=) c.1467_1549delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr489=) c.4923_5005delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr1641=) c.1247_1329delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA c.1434_1516delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr478=) c.*4643_*4725delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (n.*4643_*4725delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA) n.13_95delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA c.1173_1255delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr391=) c.5-7103_5-7021delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (n.5-7103_5-7021delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA) c.333_415delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr111=) c.-98-20864_-98-20782delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (n.-98-20864_-98-20782delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA) n.4996_5078delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA n.5037_5119delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA | |
| 17 | g.43070975_43071056del | CA10589635 | BRCA1 | c.4857_4938del (p.Asp1620LysfsTer10) c.4860_4941del (p.Asp1621LysfsTer10) c.4734_4815del (p.Asp1579LysfsTer10) c.4854_4935del (p.Asp1619LysfsTer10) c.4782_4863del (p.Asp1595LysfsTer10) c.1548_1629del (p.Asp517LysfsTer10) c.1410_1491del (p.Asp471LysfsTer10) c.3972_4053del (p.Asp1325LysfsTer10) c.4737_4818del (p.Asp1580LysfsTer10) c.4926_5007del (p.Asp1643LysfsTer10) c.4719_4800del (p.Asp1574LysfsTer10) c.1422_1503del (p.Asp475LysfsTer10) c.1467_1548del (p.Asp490LysfsTer10) c.4923_5004del (p.Asp1642LysfsTer10) c.1247_1328del c.1434_1515del (p.Asp479LysfsTer10) c.*4643_*4724del (n.*4643_*4724del) n.13_94del c.1173_1254del (p.Asp392LysfsTer10) c.5-7103_5-7022del (n.5-7103_5-7022del) c.333_414del (p.Asp112LysfsTer10) c.-98-20864_-98-20783del (n.-98-20864_-98-20783del) n.4996_5077del n.5037_5118del | ClinVar dbSNP |
| 17 | g.43071042_43071052delinsCCCAGCAGTAT | CA2260772866 | BRCA1 | c.4859_4869delinsATACTGCTGGG (p.Asp1620=) c.4862_4872delinsATACTGCTGGG (p.Asp1621=) c.4736_4746delinsATACTGCTGGG (p.Asp1579=) c.4856_4866delinsATACTGCTGGG (p.Asp1619=) c.4784_4794delinsATACTGCTGGG (p.Asp1595=) c.1550_1560delinsATACTGCTGGG (p.Asp517=) c.1412_1422delinsATACTGCTGGG (p.Asp471=) c.3974_3984delinsATACTGCTGGG (p.Asp1325=) c.4739_4749delinsATACTGCTGGG (p.Asp1580=) c.4928_4938delinsATACTGCTGGG (p.Asp1643=) c.4721_4731delinsATACTGCTGGG (p.Asp1574=) c.1424_1434delinsATACTGCTGGG (p.Asp475=) c.1469_1479delinsATACTGCTGGG (p.Asp490=) c.4925_4935delinsATACTGCTGGG (p.Asp1642=) c.1249_1259delinsATACTGCTGGG c.1436_1446delinsATACTGCTGGG (p.Asp479=) c.*4645_*4655delinsATACTGCTGGG (n.*4645_*4655delinsATACTGCTGGG) n.15_25delinsATACTGCTGGG c.1175_1185delinsATACTGCTGGG (p.Asp392=) c.5-7101_5-7091delinsATACTGCTGGG (n.5-7101_5-7091delinsATACTGCTGGG) c.335_345delinsATACTGCTGGG (p.Asp112=) c.-98-20862_-98-20852delinsATACTGCTGGG (n.-98-20862_-98-20852delinsATACTGCTGGG) n.4998_5008delinsATACTGCTGGG n.5039_5049delinsATACTGCTGGG | |
| 17 | g.43071044_43071053del | CA658656618 | BRCA1 | c.4859_4868del (p.Asp1620GlyfsTer9) c.4862_4871del (p.Asp1621GlyfsTer9) c.4736_4745del (p.Asp1579GlyfsTer9) c.4856_4865del (p.Asp1619GlyfsTer9) c.4784_4793del (p.Asp1595GlyfsTer9) c.1550_1559del (p.Asp517GlyfsTer9) c.1412_1421del (p.Asp471GlyfsTer9) c.3974_3983del (p.Asp1325GlyfsTer9) c.4739_4748del (p.Asp1580GlyfsTer9) c.4928_4937del (p.Asp1643GlyfsTer9) c.4721_4730del (p.Asp1574GlyfsTer9) c.1424_1433del (p.Asp475GlyfsTer9) c.1469_1478del (p.Asp490GlyfsTer9) c.4925_4934del (p.Asp1642GlyfsTer9) c.1249_1258del c.1436_1445del (p.Asp479GlyfsTer9) c.*4645_*4654del (n.*4645_*4654del) n.15_24del c.1175_1184del (p.Asp392GlyfsTer9) c.5-7101_5-7092del (n.5-7101_5-7092del) c.335_344del (p.Asp112GlyfsTer9) c.-98-20862_-98-20853del (n.-98-20862_-98-20853del) n.4998_5007del n.5039_5048del | ClinVar dbSNP |
| 17 | g.43071050T>A | CA10591797 | BRCA1 | c.4861A>T (p.Thr1621Ser) c.4864A>T (p.Thr1622Ser) c.4738A>T (p.Thr1580Ser) c.4858A>T (p.Thr1620Ser) c.4786A>T (p.Thr1596Ser) c.1552A>T (p.Thr518Ser) c.1414A>T (p.Thr472Ser) c.3976A>T (p.Thr1326Ser) c.4741A>T (p.Thr1581Ser) c.4930A>T (p.Thr1644Ser) c.4723A>T (p.Thr1575Ser) c.1426A>T (p.Thr476Ser) c.1471A>T (p.Thr491Ser) c.4927A>T (p.Thr1643Ser) c.1251A>T c.1438A>T (p.Thr480Ser) c.*4647A>T (n.*4647A>T) n.17A>T c.1177A>T (p.Thr393Ser) c.5-7099A>T (n.5-7099A>T) c.337A>T (p.Thr113Ser) c.-98-20860A>T (n.-98-20860A>T) n.5000A>T n.5041A>T | dbSNP |
| 17 | g.43071050T>C | CA003056 | BRCA1 | c.4861A>G (p.Thr1621Ala) c.4864A>G (p.Thr1622Ala) c.4738A>G (p.Thr1580Ala) c.4858A>G (p.Thr1620Ala) c.4786A>G (p.Thr1596Ala) c.1552A>G (p.Thr518Ala) c.1414A>G (p.Thr472Ala) c.3976A>G (p.Thr1326Ala) c.4741A>G (p.Thr1581Ala) c.4930A>G (p.Thr1644Ala) c.4723A>G (p.Thr1575Ala) c.1426A>G (p.Thr476Ala) c.1471A>G (p.Thr491Ala) c.4927A>G (p.Thr1643Ala) c.1251A>G c.1438A>G (p.Thr480Ala) c.*4647A>G (n.*4647A>G) n.17A>G c.1177A>G (p.Thr393Ala) c.5-7099A>G (n.5-7099A>G) c.337A>G (p.Thr113Ala) c.-98-20860A>G (n.-98-20860A>G) n.5000A>G n.5041A>G | ClinVar dbSNP |
| 17 | g.43071050T>G | CA10591798 | BRCA1 | c.4861A>C (p.Thr1621Pro) c.4864A>C (p.Thr1622Pro) c.4738A>C (p.Thr1580Pro) c.4858A>C (p.Thr1620Pro) c.4786A>C (p.Thr1596Pro) c.1552A>C (p.Thr518Pro) c.1414A>C (p.Thr472Pro) c.3976A>C (p.Thr1326Pro) c.4741A>C (p.Thr1581Pro) c.4930A>C (p.Thr1644Pro) c.4723A>C (p.Thr1575Pro) c.1426A>C (p.Thr476Pro) c.1471A>C (p.Thr491Pro) c.4927A>C (p.Thr1643Pro) c.1251A>C c.1438A>C (p.Thr480Pro) c.*4647A>C (n.*4647A>C) n.17A>C c.1177A>C (p.Thr393Pro) c.5-7099A>C (n.5-7099A>C) c.337A>C (p.Thr113Pro) c.-98-20860A>C (n.-98-20860A>C) n.5000A>C n.5041A>C | |
| 17 | g.43071050T= | CA2260772870 | BRCA1 | c.4861A= (p.Thr1621=) c.4864A= (p.Thr1622=) c.4738A= (p.Thr1580=) c.4858A= (p.Thr1620=) c.4786A= (p.Thr1596=) c.1552A= (p.Thr518=) c.1414A= (p.Thr472=) c.3976A= (p.Thr1326=) c.4741A= (p.Thr1581=) c.4930A= (p.Thr1644=) c.4723A= (p.Thr1575=) c.1426A= (p.Thr476=) c.1471A= (p.Thr491=) c.4927A= (p.Thr1643=) c.1251A= c.1438A= (p.Thr480=) c.*4647A= (n.*4647A=) n.17A= c.1177A= (p.Thr393=) c.5-7099A= (n.5-7099A=) c.337A= (p.Thr113=) c.-98-20860A= (n.-98-20860A=) n.5000A= n.5041A= | |
| 17 | g.43071051A>C | CA10591799 | BRCA1 | c.4860T>G (p.Asp1620Glu) c.4863T>G (p.Asp1621Glu) c.4737T>G (p.Asp1579Glu) c.4857T>G (p.Asp1619Glu) c.4785T>G (p.Asp1595Glu) c.1551T>G (p.Asp517Glu) c.1413T>G (p.Asp471Glu) c.3975T>G (p.Asp1325Glu) c.4740T>G (p.Asp1580Glu) c.4929T>G (p.Asp1643Glu) c.4722T>G (p.Asp1574Glu) c.1425T>G (p.Asp475Glu) c.1470T>G (p.Asp490Glu) c.4926T>G (p.Asp1642Glu) c.1250T>G c.1437T>G (p.Asp479Glu) c.*4646T>G (n.*4646T>G) n.16T>G c.1176T>G (p.Asp392Glu) c.5-7100T>G (n.5-7100T>G) c.336T>G (p.Asp112Glu) c.-98-20861T>G (n.-98-20861T>G) n.4999T>G n.5040T>G | dbSNP |
| 17 | g.43071051A>G | CA500231784 | BRCA1 | c.4860T>C (p.Asp1620=) c.4863T>C (p.Asp1621=) c.4737T>C (p.Asp1579=) c.4857T>C (p.Asp1619=) c.4785T>C (p.Asp1595=) c.1551T>C (p.Asp517=) c.1413T>C (p.Asp471=) c.3975T>C (p.Asp1325=) c.4740T>C (p.Asp1580=) c.4929T>C (p.Asp1643=) c.4722T>C (p.Asp1574=) c.1425T>C (p.Asp475=) c.1470T>C (p.Asp490=) c.4926T>C (p.Asp1642=) c.1250T>C c.1437T>C (p.Asp479=) c.*4646T>C (n.*4646T>C) n.16T>C c.1176T>C (p.Asp392=) c.5-7100T>C (n.5-7100T>C) c.336T>C (p.Asp112=) c.-98-20861T>C (n.-98-20861T>C) n.4999T>C n.5040T>C | |
| 17 | g.43071051A>T | CA10591800 | BRCA1 | c.4860T>A (p.Asp1620Glu) c.4863T>A (p.Asp1621Glu) c.4737T>A (p.Asp1579Glu) c.4857T>A (p.Asp1619Glu) c.4785T>A (p.Asp1595Glu) c.1551T>A (p.Asp517Glu) c.1413T>A (p.Asp471Glu) c.3975T>A (p.Asp1325Glu) c.4740T>A (p.Asp1580Glu) c.4929T>A (p.Asp1643Glu) c.4722T>A (p.Asp1574Glu) c.1425T>A (p.Asp475Glu) c.1470T>A (p.Asp490Glu) c.4926T>A (p.Asp1642Glu) c.1250T>A c.1437T>A (p.Asp479Glu) c.*4646T>A (n.*4646T>A) n.16T>A c.1176T>A (p.Asp392Glu) c.5-7100T>A (n.5-7100T>A) c.336T>A (p.Asp112Glu) c.-98-20861T>A (n.-98-20861T>A) n.4999T>A n.5040T>A | dbSNP |
| 17 | g.43071051_43071052insC | CA2499224392 | BRCA1 | c.4859_4860insG (p.Asp1620GlufsTer6) c.4862_4863insG (p.Asp1621GlufsTer6) c.4736_4737insG (p.Asp1579GlufsTer6) c.4856_4857insG (p.Asp1619GlufsTer6) c.4784_4785insG (p.Asp1595GlufsTer6) c.1550_1551insG (p.Asp517GlufsTer6) c.1412_1413insG (p.Asp471GlufsTer6) c.3974_3975insG (p.Asp1325GlufsTer6) c.4739_4740insG (p.Asp1580GlufsTer6) c.4928_4929insG (p.Asp1643GlufsTer6) c.4721_4722insG (p.Asp1574GlufsTer6) c.1424_1425insG (p.Asp475GlufsTer6) c.1469_1470insG (p.Asp490GlufsTer6) c.4925_4926insG (p.Asp1642GlufsTer6) c.1249_1250insG c.1436_1437insG (p.Asp479GlufsTer6) c.*4645_*4646insG (n.*4645_*4646insG) n.15_16insG c.1175_1176insG (p.Asp392GlufsTer6) c.5-7101_5-7100insG (n.5-7101_5-7100insG) c.335_336insG (p.Asp112GlufsTer6) c.-98-20862_-98-20861insG (n.-98-20862_-98-20861insG) n.4998_4999insG n.5039_5040insG | ClinVar dbSNP |
| 17 | g.43071052del | CA2499224393 | BRCA1 | c.4859del (p.Asp1620ValfsTer12) c.4862del (p.Asp1621ValfsTer12) c.4736del (p.Asp1579ValfsTer12) c.4856del (p.Asp1619ValfsTer12) c.4784del (p.Asp1595ValfsTer12) c.1550del (p.Asp517ValfsTer12) c.1412del (p.Asp471ValfsTer12) c.3974del (p.Asp1325ValfsTer12) c.4739del (p.Asp1580ValfsTer12) c.4928del (p.Asp1643ValfsTer12) c.4721del (p.Asp1574ValfsTer12) c.1424del (p.Asp475ValfsTer12) c.1469del (p.Asp490ValfsTer12) c.4925del (p.Asp1642ValfsTer12) c.1249del c.1436del (p.Asp479ValfsTer12) c.*4645del (n.*4645del) n.15del c.1175del (p.Asp392ValfsTer12) c.5-7101del (n.5-7101del) c.335del (p.Asp112ValfsTer12) c.-98-20862del (n.-98-20862del) n.4998del n.5039del | |
| 17 | g.43071052T>A | CA10591801 | BRCA1 | c.4859A>T (p.Asp1620Val) c.4862A>T (p.Asp1621Val) c.4736A>T (p.Asp1579Val) c.4856A>T (p.Asp1619Val) c.4784A>T (p.Asp1595Val) c.1550A>T (p.Asp517Val) c.1412A>T (p.Asp471Val) c.3974A>T (p.Asp1325Val) c.4739A>T (p.Asp1580Val) c.4928A>T (p.Asp1643Val) c.4721A>T (p.Asp1574Val) c.1424A>T (p.Asp475Val) c.1469A>T (p.Asp490Val) c.4925A>T (p.Asp1642Val) c.1249A>T c.1436A>T (p.Asp479Val) c.*4645A>T (n.*4645A>T) n.15A>T c.1175A>T (p.Asp392Val) c.5-7101A>T (n.5-7101A>T) c.335A>T (p.Asp112Val) c.-98-20862A>T (n.-98-20862A>T) n.4998A>T n.5039A>T | ClinVar dbSNP |
| 17 | g.43071052T>C | CA10591802 | BRCA1 | c.4859A>G (p.Asp1620Gly) c.4862A>G (p.Asp1621Gly) c.4736A>G (p.Asp1579Gly) c.4856A>G (p.Asp1619Gly) c.4784A>G (p.Asp1595Gly) c.1550A>G (p.Asp517Gly) c.1412A>G (p.Asp471Gly) c.3974A>G (p.Asp1325Gly) c.4739A>G (p.Asp1580Gly) c.4928A>G (p.Asp1643Gly) c.4721A>G (p.Asp1574Gly) c.1424A>G (p.Asp475Gly) c.1469A>G (p.Asp490Gly) c.4925A>G (p.Asp1642Gly) c.1249A>G c.1436A>G (p.Asp479Gly) c.*4645A>G (n.*4645A>G) n.15A>G c.1175A>G (p.Asp392Gly) c.5-7101A>G (n.5-7101A>G) c.335A>G (p.Asp112Gly) c.-98-20862A>G (n.-98-20862A>G) n.4998A>G n.5039A>G | ClinVar dbSNP |
| 17 | g.43071052T>G | CA10591803 | BRCA1 | c.4859A>C (p.Asp1620Ala) c.4862A>C (p.Asp1621Ala) c.4736A>C (p.Asp1579Ala) c.4856A>C (p.Asp1619Ala) c.4784A>C (p.Asp1595Ala) c.1550A>C (p.Asp517Ala) c.1412A>C (p.Asp471Ala) c.3974A>C (p.Asp1325Ala) c.4739A>C (p.Asp1580Ala) c.4928A>C (p.Asp1643Ala) c.4721A>C (p.Asp1574Ala) c.1424A>C (p.Asp475Ala) c.1469A>C (p.Asp490Ala) c.4925A>C (p.Asp1642Ala) c.1249A>C c.1436A>C (p.Asp479Ala) c.*4645A>C (n.*4645A>C) n.15A>C c.1175A>C (p.Asp392Ala) c.5-7101A>C (n.5-7101A>C) c.335A>C (p.Asp112Ala) c.-98-20862A>C (n.-98-20862A>C) n.4998A>C n.5039A>C | ClinVar dbSNP |
| 17 | g.43071052T= | CA2260772871 | BRCA1 | c.4859A= (p.Asp1620=) c.4862A= (p.Asp1621=) c.4736A= (p.Asp1579=) c.4856A= (p.Asp1619=) c.4784A= (p.Asp1595=) c.1550A= (p.Asp517=) c.1412A= (p.Asp471=) c.3974A= (p.Asp1325=) c.4739A= (p.Asp1580=) c.4928A= (p.Asp1643=) c.4721A= (p.Asp1574=) c.1424A= (p.Asp475=) c.1469A= (p.Asp490=) c.4925A= (p.Asp1642=) c.1249A= c.1436A= (p.Asp479=) c.*4645A= (n.*4645A=) n.15A= c.1175A= (p.Asp392=) c.5-7101A= (n.5-7101A=) c.335A= (p.Asp112=) c.-98-20862A= (n.-98-20862A=) n.4998A= n.5039A= | |
| 17 | g.43071053C>A | CA10591804 | BRCA1 | c.4858G>T (p.Asp1620Tyr) c.4861G>T (p.Asp1621Tyr) c.4735G>T (p.Asp1579Tyr) c.4855G>T (p.Asp1619Tyr) c.4783G>T (p.Asp1595Tyr) c.1549G>T (p.Asp517Tyr) c.1411G>T (p.Asp471Tyr) c.3973G>T (p.Asp1325Tyr) c.4738G>T (p.Asp1580Tyr) c.4927G>T (p.Asp1643Tyr) c.4720G>T (p.Asp1574Tyr) c.1423G>T (p.Asp475Tyr) c.1468G>T (p.Asp490Tyr) c.4924G>T (p.Asp1642Tyr) c.1248G>T c.1435G>T (p.Asp479Tyr) c.*4644G>T (n.*4644G>T) n.14G>T c.1174G>T (p.Asp392Tyr) c.5-7102G>T (n.5-7102G>T) c.334G>T (p.Asp112Tyr) c.-98-20863G>T (n.-98-20863G>T) n.4997G>T n.5038G>T | dbSNP |
| 17 | g.43071053C>G | CA10591805 | BRCA1 | c.4858G>C (p.Asp1620His) c.4861G>C (p.Asp1621His) c.4735G>C (p.Asp1579His) c.4855G>C (p.Asp1619His) c.4783G>C (p.Asp1595His) c.1549G>C (p.Asp517His) c.1411G>C (p.Asp471His) c.3973G>C (p.Asp1325His) c.4738G>C (p.Asp1580His) c.4927G>C (p.Asp1643His) c.4720G>C (p.Asp1574His) c.1423G>C (p.Asp475His) c.1468G>C (p.Asp490His) c.4924G>C (p.Asp1642His) c.1248G>C c.1435G>C (p.Asp479His) c.*4644G>C (n.*4644G>C) n.14G>C c.1174G>C (p.Asp392His) c.5-7102G>C (n.5-7102G>C) c.334G>C (p.Asp112His) c.-98-20863G>C (n.-98-20863G>C) n.4997G>C n.5038G>C | dbSNP |
| 17 | g.43071053C>T | CA10591806 | BRCA1 | c.4858G>A (p.Asp1620Asn) c.4861G>A (p.Asp1621Asn) c.4735G>A (p.Asp1579Asn) c.4855G>A (p.Asp1619Asn) c.4783G>A (p.Asp1595Asn) c.1549G>A (p.Asp517Asn) c.1411G>A (p.Asp471Asn) c.3973G>A (p.Asp1325Asn) c.4738G>A (p.Asp1580Asn) c.4927G>A (p.Asp1643Asn) c.4720G>A (p.Asp1574Asn) c.1423G>A (p.Asp475Asn) c.1468G>A (p.Asp490Asn) c.4924G>A (p.Asp1642Asn) c.1248G>A c.1435G>A (p.Asp479Asn) c.*4644G>A (n.*4644G>A) n.14G>A c.1174G>A (p.Asp392Asn) c.5-7102G>A (n.5-7102G>A) c.334G>A (p.Asp112Asn) c.-98-20863G>A (n.-98-20863G>A) n.4997G>A n.5038G>A | dbSNP |
| 17 | g.43071054A= | CA2260772872 | BRCA1 | c.4857T= (p.Thr1619=) c.4860T= (p.Thr1620=) c.4734T= (p.Thr1578=) c.4854T= (p.Thr1618=) c.4782T= (p.Thr1594=) c.1548T= (p.Thr516=) c.1410T= (p.Thr470=) c.3972T= (p.Thr1324=) c.4737T= (p.Thr1579=) c.4926T= (p.Thr1642=) c.4719T= (p.Thr1573=) c.1422T= (p.Thr474=) c.1467T= (p.Thr489=) c.4923T= (p.Thr1641=) c.1247T= c.1434T= (p.Thr478=) c.*4643T= (n.*4643T=) n.13T= c.1173T= (p.Thr391=) c.5-7103T= (n.5-7103T=) c.333T= (p.Thr111=) c.-98-20864T= (n.-98-20864T=) n.4996T= n.5037T= | |
| 17 | g.43071054A>C | CA500231787 | BRCA1 | c.4857T>G (p.Thr1619=) c.4860T>G (p.Thr1620=) c.4734T>G (p.Thr1578=) c.4854T>G (p.Thr1618=) c.4782T>G (p.Thr1594=) c.1548T>G (p.Thr516=) c.1410T>G (p.Thr470=) c.3972T>G (p.Thr1324=) c.4737T>G (p.Thr1579=) c.4926T>G (p.Thr1642=) c.4719T>G (p.Thr1573=) c.1422T>G (p.Thr474=) c.1467T>G (p.Thr489=) c.4923T>G (p.Thr1641=) c.1247T>G c.1434T>G (p.Thr478=) c.*4643T>G (n.*4643T>G) n.13T>G c.1173T>G (p.Thr391=) c.5-7103T>G (n.5-7103T>G) c.333T>G (p.Thr111=) c.-98-20864T>G (n.-98-20864T>G) n.4996T>G n.5037T>G | |
| 17 | g.43071054A>G | CA053379 | BRCA1 | c.4857T>C (p.Thr1619=) c.4860T>C (p.Thr1620=) c.4734T>C (p.Thr1578=) c.4854T>C (p.Thr1618=) c.4782T>C (p.Thr1594=) c.1548T>C (p.Thr516=) c.1410T>C (p.Thr470=) c.3972T>C (p.Thr1324=) c.4737T>C (p.Thr1579=) c.4926T>C (p.Thr1642=) c.4719T>C (p.Thr1573=) c.1422T>C (p.Thr474=) c.1467T>C (p.Thr489=) c.4923T>C (p.Thr1641=) c.1247T>C c.1434T>C (p.Thr478=) c.*4643T>C (n.*4643T>C) n.13T>C c.1173T>C (p.Thr391=) c.5-7103T>C (n.5-7103T>C) c.333T>C (p.Thr111=) c.-98-20864T>C (n.-98-20864T>C) n.4996T>C n.5037T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.43071054A>T | CA500231786 | BRCA1 | c.4857T>A (p.Thr1619=) c.4860T>A (p.Thr1620=) c.4734T>A (p.Thr1578=) c.4854T>A (p.Thr1618=) c.4782T>A (p.Thr1594=) c.1548T>A (p.Thr516=) c.1410T>A (p.Thr470=) c.3972T>A (p.Thr1324=) c.4737T>A (p.Thr1579=) c.4926T>A (p.Thr1642=) c.4719T>A (p.Thr1573=) c.1422T>A (p.Thr474=) c.1467T>A (p.Thr489=) c.4923T>A (p.Thr1641=) c.1247T>A c.1434T>A (p.Thr478=) c.*4643T>A (n.*4643T>A) n.13T>A c.1173T>A (p.Thr391=) c.5-7103T>A (n.5-7103T>A) c.333T>A (p.Thr111=) c.-98-20864T>A (n.-98-20864T>A) n.4996T>A n.5037T>A | dbSNP |
| 17 | g.43071055G>A | CA10591807 | BRCA1 | c.4856C>T (p.Thr1619Ile) c.4859C>T (p.Thr1620Ile) c.4733C>T (p.Thr1578Ile) c.4853C>T (p.Thr1618Ile) c.4781C>T (p.Thr1594Ile) c.1547C>T (p.Thr516Ile) c.1409C>T (p.Thr470Ile) c.3971C>T (p.Thr1324Ile) c.4736C>T (p.Thr1579Ile) c.4925C>T (p.Thr1642Ile) c.4718C>T (p.Thr1573Ile) c.1421C>T (p.Thr474Ile) c.1466C>T (p.Thr489Ile) c.4922C>T (p.Thr1641Ile) c.1246C>T c.1433C>T (p.Thr478Ile) c.*4642C>T (n.*4642C>T) n.12C>T c.1172C>T (p.Thr391Ile) c.5-7104C>T (n.5-7104C>T) c.332C>T (p.Thr111Ile) c.-98-20865C>T (n.-98-20865C>T) n.4995C>T n.5036C>T | ClinVar dbSNP |
| 17 | g.43071055G>C | CA10591808 | BRCA1 | c.4856C>G (p.Thr1619Ser) c.4859C>G (p.Thr1620Ser) c.4733C>G (p.Thr1578Ser) c.4853C>G (p.Thr1618Ser) c.4781C>G (p.Thr1594Ser) c.1547C>G (p.Thr516Ser) c.1409C>G (p.Thr470Ser) c.3971C>G (p.Thr1324Ser) c.4736C>G (p.Thr1579Ser) c.4925C>G (p.Thr1642Ser) c.4718C>G (p.Thr1573Ser) c.1421C>G (p.Thr474Ser) c.1466C>G (p.Thr489Ser) c.4922C>G (p.Thr1641Ser) c.1246C>G c.1433C>G (p.Thr478Ser) c.*4642C>G (n.*4642C>G) n.12C>G c.1172C>G (p.Thr391Ser) c.5-7104C>G (n.5-7104C>G) c.332C>G (p.Thr111Ser) c.-98-20865C>G (n.-98-20865C>G) n.4995C>G n.5036C>G | dbSNP |
| 17 | g.43071055G>T | CA10591809 | BRCA1 | c.4856C>A (p.Thr1619Asn) c.4859C>A (p.Thr1620Asn) c.4733C>A (p.Thr1578Asn) c.4853C>A (p.Thr1618Asn) c.4781C>A (p.Thr1594Asn) c.1547C>A (p.Thr516Asn) c.1409C>A (p.Thr470Asn) c.3971C>A (p.Thr1324Asn) c.4736C>A (p.Thr1579Asn) c.4925C>A (p.Thr1642Asn) c.4718C>A (p.Thr1573Asn) c.1421C>A (p.Thr474Asn) c.1466C>A (p.Thr489Asn) c.4922C>A (p.Thr1641Asn) c.1246C>A c.1433C>A (p.Thr478Asn) c.*4642C>A (n.*4642C>A) n.12C>A c.1172C>A (p.Thr391Asn) c.5-7104C>A (n.5-7104C>A) c.332C>A (p.Thr111Asn) c.-98-20865C>A (n.-98-20865C>A) n.4995C>A n.5036C>A | |
| 17 | g.43071056T>A | CA10591810 | BRCA1 | c.4855A>T (p.Thr1619Ser) c.4858A>T (p.Thr1620Ser) c.4732A>T (p.Thr1578Ser) c.4852A>T (p.Thr1618Ser) c.4780A>T (p.Thr1594Ser) c.1546A>T (p.Thr516Ser) c.1408A>T (p.Thr470Ser) c.3970A>T (p.Thr1324Ser) c.4735A>T (p.Thr1579Ser) c.4924A>T (p.Thr1642Ser) c.4717A>T (p.Thr1573Ser) c.1420A>T (p.Thr474Ser) c.1465A>T (p.Thr489Ser) c.4921A>T (p.Thr1641Ser) c.1245A>T c.1432A>T (p.Thr478Ser) c.*4641A>T (n.*4641A>T) n.11A>T c.1171A>T (p.Thr391Ser) c.5-7105A>T (n.5-7105A>T) c.331A>T (p.Thr111Ser) c.-98-20866A>T (n.-98-20866A>T) n.4994A>T n.5035A>T | dbSNP |
| 17 | g.43071056T>C | CA003055 | BRCA1 | c.4855A>G (p.Thr1619Ala) c.4858A>G (p.Thr1620Ala) c.4732A>G (p.Thr1578Ala) c.4852A>G (p.Thr1618Ala) c.4780A>G (p.Thr1594Ala) c.1546A>G (p.Thr516Ala) c.1408A>G (p.Thr470Ala) c.3970A>G (p.Thr1324Ala) c.4735A>G (p.Thr1579Ala) c.4924A>G (p.Thr1642Ala) c.4717A>G (p.Thr1573Ala) c.1420A>G (p.Thr474Ala) c.1465A>G (p.Thr489Ala) c.4921A>G (p.Thr1641Ala) c.1245A>G c.1432A>G (p.Thr478Ala) c.*4641A>G (n.*4641A>G) n.11A>G c.1171A>G (p.Thr391Ala) c.5-7105A>G (n.5-7105A>G) c.331A>G (p.Thr111Ala) c.-98-20866A>G (n.-98-20866A>G) n.4994A>G n.5035A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.43071056T>G | CA10591811 | BRCA1 | c.4855A>C (p.Thr1619Pro) c.4858A>C (p.Thr1620Pro) c.4732A>C (p.Thr1578Pro) c.4852A>C (p.Thr1618Pro) c.4780A>C (p.Thr1594Pro) c.1546A>C (p.Thr516Pro) c.1408A>C (p.Thr470Pro) c.3970A>C (p.Thr1324Pro) c.4735A>C (p.Thr1579Pro) c.4924A>C (p.Thr1642Pro) c.4717A>C (p.Thr1573Pro) c.1420A>C (p.Thr474Pro) c.1465A>C (p.Thr489Pro) c.4921A>C (p.Thr1641Pro) c.1245A>C c.1432A>C (p.Thr478Pro) c.*4641A>C (n.*4641A>C) n.11A>C c.1171A>C (p.Thr391Pro) c.5-7105A>C (n.5-7105A>C) c.331A>C (p.Thr111Pro) c.-98-20866A>C (n.-98-20866A>C) n.4994A>C n.5035A>C | |
| 17 | g.43071056T= | CA2260772873 | BRCA1 | c.4855A= (p.Thr1619=) c.4858A= (p.Thr1620=) c.4732A= (p.Thr1578=) c.4852A= (p.Thr1618=) c.4780A= (p.Thr1594=) c.1546A= (p.Thr516=) c.1408A= (p.Thr470=) c.3970A= (p.Thr1324=) c.4735A= (p.Thr1579=) c.4924A= (p.Thr1642=) c.4717A= (p.Thr1573=) c.1420A= (p.Thr474=) c.1465A= (p.Thr489=) c.4921A= (p.Thr1641=) c.1245A= c.1432A= (p.Thr478=) c.*4641A= (n.*4641A=) n.11A= c.1171A= (p.Thr391=) c.5-7105A= (n.5-7105A=) c.331A= (p.Thr111=) c.-98-20866A= (n.-98-20866A=) n.4994A= n.5035A= | |
| 17 | g.43071057A>C | CA500231789 | BRCA1 | c.4854T>G (p.Thr1618=) c.4857T>G (p.Thr1619=) c.4731T>G (p.Thr1577=) c.4851T>G (p.Thr1617=) c.4779T>G (p.Thr1593=) c.1545T>G (p.Thr515=) c.1407T>G (p.Thr469=) c.3969T>G (p.Thr1323=) c.4734T>G (p.Thr1578=) c.4923T>G (p.Thr1641=) c.4716T>G (p.Thr1572=) c.1419T>G (p.Thr473=) c.1464T>G (p.Thr488=) c.4920T>G (p.Thr1640=) c.1244T>G c.1431T>G (p.Thr477=) c.*4640T>G (n.*4640T>G) n.10T>G c.1170T>G (p.Thr390=) c.5-7106T>G (n.5-7106T>G) c.330T>G (p.Thr110=) c.-98-20867T>G (n.-98-20867T>G) n.4993T>G n.5034T>G | |
| 17 | g.43071057A>G | CA500231790 | BRCA1 | c.4854T>C (p.Thr1618=) c.4857T>C (p.Thr1619=) c.4731T>C (p.Thr1577=) c.4851T>C (p.Thr1617=) c.4779T>C (p.Thr1593=) c.1545T>C (p.Thr515=) c.1407T>C (p.Thr469=) c.3969T>C (p.Thr1323=) c.4734T>C (p.Thr1578=) c.4923T>C (p.Thr1641=) c.4716T>C (p.Thr1572=) c.1419T>C (p.Thr473=) c.1464T>C (p.Thr488=) c.4920T>C (p.Thr1640=) c.1244T>C c.1431T>C (p.Thr477=) c.*4640T>C (n.*4640T>C) n.10T>C c.1170T>C (p.Thr390=) c.5-7106T>C (n.5-7106T>C) c.330T>C (p.Thr110=) c.-98-20867T>C (n.-98-20867T>C) n.4993T>C n.5034T>C | dbSNP |
| 17 | g.43071057A>T | CA500231791 | BRCA1 | c.4854T>A (p.Thr1618=) c.4857T>A (p.Thr1619=) c.4731T>A (p.Thr1577=) c.4851T>A (p.Thr1617=) c.4779T>A (p.Thr1593=) c.1545T>A (p.Thr515=) c.1407T>A (p.Thr469=) c.3969T>A (p.Thr1323=) c.4734T>A (p.Thr1578=) c.4923T>A (p.Thr1641=) c.4716T>A (p.Thr1572=) c.1419T>A (p.Thr473=) c.1464T>A (p.Thr488=) c.4920T>A (p.Thr1640=) c.1244T>A c.1431T>A (p.Thr477=) c.*4640T>A (n.*4640T>A) n.10T>A c.1170T>A (p.Thr390=) c.5-7106T>A (n.5-7106T>A) c.330T>A (p.Thr110=) c.-98-20867T>A (n.-98-20867T>A) n.4993T>A n.5034T>A | dbSNP |
| 17 | g.43071058G>A | CA10580507 | BRCA1 | c.4853C>T (p.Thr1618Ile) c.4856C>T (p.Thr1619Ile) c.4730C>T (p.Thr1577Ile) c.4850C>T (p.Thr1617Ile) c.4778C>T (p.Thr1593Ile) c.1544C>T (p.Thr515Ile) c.1406C>T (p.Thr469Ile) c.3968C>T (p.Thr1323Ile) c.4733C>T (p.Thr1578Ile) c.4922C>T (p.Thr1641Ile) c.4715C>T (p.Thr1572Ile) c.1418C>T (p.Thr473Ile) c.1463C>T (p.Thr488Ile) c.4919C>T (p.Thr1640Ile) c.1243C>T c.1430C>T (p.Thr477Ile) c.*4639C>T (n.*4639C>T) n.9C>T c.1169C>T (p.Thr390Ile) c.5-7107C>T (n.5-7107C>T) c.329C>T (p.Thr110Ile) c.-98-20868C>T (n.-98-20868C>T) n.4992C>T n.5033C>T | ClinVar dbSNP |
| 17 | g.43071058G>C | CA10591812 | BRCA1 | c.4853C>G (p.Thr1618Ser) c.4856C>G (p.Thr1619Ser) c.4730C>G (p.Thr1577Ser) c.4850C>G (p.Thr1617Ser) c.4778C>G (p.Thr1593Ser) c.1544C>G (p.Thr515Ser) c.1406C>G (p.Thr469Ser) c.3968C>G (p.Thr1323Ser) c.4733C>G (p.Thr1578Ser) c.4922C>G (p.Thr1641Ser) c.4715C>G (p.Thr1572Ser) c.1418C>G (p.Thr473Ser) c.1463C>G (p.Thr488Ser) c.4919C>G (p.Thr1640Ser) c.1243C>G c.1430C>G (p.Thr477Ser) c.*4639C>G (n.*4639C>G) n.9C>G c.1169C>G (p.Thr390Ser) c.5-7107C>G (n.5-7107C>G) c.329C>G (p.Thr110Ser) c.-98-20868C>G (n.-98-20868C>G) n.4992C>G n.5033C>G | dbSNP |
| 17 | g.43071058G= | CA2260772874 | BRCA1 | c.4853C= (p.Thr1618=) c.4856C= (p.Thr1619=) c.4730C= (p.Thr1577=) c.4850C= (p.Thr1617=) c.4778C= (p.Thr1593=) c.1544C= (p.Thr515=) c.1406C= (p.Thr469=) c.3968C= (p.Thr1323=) c.4733C= (p.Thr1578=) c.4922C= (p.Thr1641=) c.4715C= (p.Thr1572=) c.1418C= (p.Thr473=) c.1463C= (p.Thr488=) c.4919C= (p.Thr1640=) c.1243C= c.1430C= (p.Thr477=) c.*4639C= (n.*4639C=) n.9C= c.1169C= (p.Thr390=) c.5-7107C= (n.5-7107C=) c.329C= (p.Thr110=) c.-98-20868C= (n.-98-20868C=) n.4992C= n.5033C= | |
| 17 | g.43071058G>T | CA10591813 | BRCA1 | c.4853C>A (p.Thr1618Asn) c.4856C>A (p.Thr1619Asn) c.4730C>A (p.Thr1577Asn) c.4850C>A (p.Thr1617Asn) c.4778C>A (p.Thr1593Asn) c.1544C>A (p.Thr515Asn) c.1406C>A (p.Thr469Asn) c.3968C>A (p.Thr1323Asn) c.4733C>A (p.Thr1578Asn) c.4922C>A (p.Thr1641Asn) c.4715C>A (p.Thr1572Asn) c.1418C>A (p.Thr473Asn) c.1463C>A (p.Thr488Asn) c.4919C>A (p.Thr1640Asn) c.1243C>A c.1430C>A (p.Thr477Asn) c.*4639C>A (n.*4639C>A) n.9C>A c.1169C>A (p.Thr390Asn) c.5-7107C>A (n.5-7107C>A) c.329C>A (p.Thr110Asn) c.-98-20868C>A (n.-98-20868C>A) n.4992C>A n.5033C>A | |
| 17 | g.43071059T>A | CA10591814 | BRCA1 | c.4852A>T (p.Thr1618Ser) c.4855A>T (p.Thr1619Ser) c.4729A>T (p.Thr1577Ser) c.4849A>T (p.Thr1617Ser) c.4777A>T (p.Thr1593Ser) c.1543A>T (p.Thr515Ser) c.1405A>T (p.Thr469Ser) c.3967A>T (p.Thr1323Ser) c.4732A>T (p.Thr1578Ser) c.4921A>T (p.Thr1641Ser) c.4714A>T (p.Thr1572Ser) c.1417A>T (p.Thr473Ser) c.1462A>T (p.Thr488Ser) c.4918A>T (p.Thr1640Ser) c.1242A>T c.1429A>T (p.Thr477Ser) c.*4638A>T (n.*4638A>T) n.8A>T c.1168A>T (p.Thr390Ser) c.5-7108A>T (n.5-7108A>T) c.328A>T (p.Thr110Ser) c.-98-20869A>T (n.-98-20869A>T) n.4991A>T n.5032A>T | dbSNP COSMIC COSMIC |
| 17 | g.43071059T>C | CA10591815 | BRCA1 | c.4852A>G (p.Thr1618Ala) c.4855A>G (p.Thr1619Ala) c.4729A>G (p.Thr1577Ala) c.4849A>G (p.Thr1617Ala) c.4777A>G (p.Thr1593Ala) c.1543A>G (p.Thr515Ala) c.1405A>G (p.Thr469Ala) c.3967A>G (p.Thr1323Ala) c.4732A>G (p.Thr1578Ala) c.4921A>G (p.Thr1641Ala) c.4714A>G (p.Thr1572Ala) c.1417A>G (p.Thr473Ala) c.1462A>G (p.Thr488Ala) c.4918A>G (p.Thr1640Ala) c.1242A>G c.1429A>G (p.Thr477Ala) c.*4638A>G (n.*4638A>G) n.8A>G c.1168A>G (p.Thr390Ala) c.5-7108A>G (n.5-7108A>G) c.328A>G (p.Thr110Ala) c.-98-20869A>G (n.-98-20869A>G) n.4991A>G n.5032A>G | ClinVar dbSNP gnomAD v4 |
| 17 | g.43071059T>G | CA10591816 | BRCA1 | c.4852A>C (p.Thr1618Pro) c.4855A>C (p.Thr1619Pro) c.4729A>C (p.Thr1577Pro) c.4849A>C (p.Thr1617Pro) c.4777A>C (p.Thr1593Pro) c.1543A>C (p.Thr515Pro) c.1405A>C (p.Thr469Pro) c.3967A>C (p.Thr1323Pro) c.4732A>C (p.Thr1578Pro) c.4921A>C (p.Thr1641Pro) c.4714A>C (p.Thr1572Pro) c.1417A>C (p.Thr473Pro) c.1462A>C (p.Thr488Pro) c.4918A>C (p.Thr1640Pro) c.1242A>C c.1429A>C (p.Thr477Pro) c.*4638A>C (n.*4638A>C) n.8A>C c.1168A>C (p.Thr390Pro) c.5-7108A>C (n.5-7108A>C) c.328A>C (p.Thr110Pro) c.-98-20869A>C (n.-98-20869A>C) n.4991A>C n.5032A>C | |
| 17 | g.43071060A= | CA2260772875 | BRCA1 | c.4851T= (p.His1617=) c.4854T= (p.His1618=) c.4728T= (p.His1576=) c.4848T= (p.His1616=) c.4776T= (p.His1592=) c.1542T= (p.His514=) c.1404T= (p.His468=) c.3966T= (p.His1322=) c.4731T= (p.His1577=) c.4920T= (p.His1640=) c.4713T= (p.His1571=) c.1416T= (p.His472=) c.1461T= (p.His487=) c.4917T= (p.His1639=) c.1241T= c.1428T= (p.His476=) c.*4637T= (n.*4637T=) n.7T= c.1167T= (p.His389=) c.5-7109T= (n.5-7109T=) c.327T= (p.His109=) c.-98-20870T= (n.-98-20870T=) n.4990T= n.5031T= | |
| 17 | g.43071060A>C | CA10591817 | BRCA1 | c.4851T>G (p.His1617Gln) c.4854T>G (p.His1618Gln) c.4728T>G (p.His1576Gln) c.4848T>G (p.His1616Gln) c.4776T>G (p.His1592Gln) c.1542T>G (p.His514Gln) c.1404T>G (p.His468Gln) c.3966T>G (p.His1322Gln) c.4731T>G (p.His1577Gln) c.4920T>G (p.His1640Gln) c.4713T>G (p.His1571Gln) c.1416T>G (p.His472Gln) c.1461T>G (p.His487Gln) c.4917T>G (p.His1639Gln) c.1241T>G c.1428T>G (p.His476Gln) c.*4637T>G (n.*4637T>G) n.7T>G c.1167T>G (p.His389Gln) c.5-7109T>G (n.5-7109T>G) c.327T>G (p.His109Gln) c.-98-20870T>G (n.-98-20870T>G) n.4990T>G n.5031T>G |