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.43070976G>A | CA500231617 | BRCA1 | c.4935C>T (p.Val1645=) c.4938C>T (p.Val1646=) c.4812C>T (p.Val1604=) c.4932C>T (p.Val1644=) c.4860C>T (p.Val1620=) c.1626C>T (p.Val542=) c.1488C>T (p.Val496=) c.4050C>T (p.Val1350=) c.4815C>T (p.Val1605=) c.5004C>T (p.Val1668=) c.4797C>T (p.Val1599=) c.1500C>T (p.Val500=) c.1545C>T (p.Val515=) c.5001C>T (p.Val1667=) c.1325C>T c.1512C>T (p.Val504=) c.*4721C>T (n.*4721C>T) n.91C>T c.1251C>T (p.Val417=) c.5-7025C>T (n.5-7025C>T) c.411C>T (p.Val137=) c.-98-20786C>T (n.-98-20786C>T) n.5074C>T n.5115C>T | ClinVar dbSNP |
17 | g.43070976G>C | CA500231618 | BRCA1 | c.4935C>G (p.Val1645=) c.4938C>G (p.Val1646=) c.4812C>G (p.Val1604=) c.4932C>G (p.Val1644=) c.4860C>G (p.Val1620=) c.1626C>G (p.Val542=) c.1488C>G (p.Val496=) c.4050C>G (p.Val1350=) c.4815C>G (p.Val1605=) c.5004C>G (p.Val1668=) c.4797C>G (p.Val1599=) c.1500C>G (p.Val500=) c.1545C>G (p.Val515=) c.5001C>G (p.Val1667=) c.1325C>G c.1512C>G (p.Val504=) c.*4721C>G (n.*4721C>G) n.91C>G c.1251C>G (p.Val417=) c.5-7025C>G (n.5-7025C>G) c.411C>G (p.Val137=) c.-98-20786C>G (n.-98-20786C>G) n.5074C>G n.5115C>G | ClinVar dbSNP |
17 | g.43070976G= | CA2260772791 | BRCA1 | c.4935C= (p.Val1645=) c.4938C= (p.Val1646=) c.4812C= (p.Val1604=) c.4932C= (p.Val1644=) c.4860C= (p.Val1620=) c.1626C= (p.Val542=) c.1488C= (p.Val496=) c.4050C= (p.Val1350=) c.4815C= (p.Val1605=) c.5004C= (p.Val1668=) c.4797C= (p.Val1599=) c.1500C= (p.Val500=) c.1545C= (p.Val515=) c.5001C= (p.Val1667=) c.1325C= c.1512C= (p.Val504=) c.*4721C= (n.*4721C=) n.91C= c.1251C= (p.Val417=) c.5-7025C= (n.5-7025C=) c.411C= (p.Val137=) c.-98-20786C= (n.-98-20786C=) n.5074C= n.5115C= | |
17 | g.43070976G>T | CA500231619 | BRCA1 | c.4935C>A (p.Val1645=) c.4938C>A (p.Val1646=) c.4812C>A (p.Val1604=) c.4932C>A (p.Val1644=) c.4860C>A (p.Val1620=) c.1626C>A (p.Val542=) c.1488C>A (p.Val496=) c.4050C>A (p.Val1350=) c.4815C>A (p.Val1605=) c.5004C>A (p.Val1668=) c.4797C>A (p.Val1599=) c.1500C>A (p.Val500=) c.1545C>A (p.Val515=) c.5001C>A (p.Val1667=) c.1325C>A c.1512C>A (p.Val504=) c.*4721C>A (n.*4721C>A) n.91C>A c.1251C>A (p.Val417=) c.5-7025C>A (n.5-7025C>A) c.411C>A (p.Val137=) c.-98-20786C>A (n.-98-20786C>A) n.5074C>A n.5115C>A | ClinVar dbSNP |
17 | g.43070977A= | CA2260772792 | BRCA1 | c.4934T= (p.Val1645=) c.4937T= (p.Val1646=) c.4811T= (p.Val1604=) c.4931T= (p.Val1644=) c.4859T= (p.Val1620=) c.1625T= (p.Val542=) c.1487T= (p.Val496=) c.4049T= (p.Val1350=) c.4814T= (p.Val1605=) c.5003T= (p.Val1668=) c.4796T= (p.Val1599=) c.1499T= (p.Val500=) c.1544T= (p.Val515=) c.5000T= (p.Val1667=) c.1324T= c.1511T= (p.Val504=) c.*4720T= (n.*4720T=) n.90T= c.1250T= (p.Val417=) c.5-7026T= (n.5-7026T=) c.410T= (p.Val137=) c.-98-20787T= (n.-98-20787T=) n.5073T= n.5114T= | |
17 | g.43070977A>C | CA10591649 | BRCA1 | c.4934T>G (p.Val1645Gly) c.4937T>G (p.Val1646Gly) c.4811T>G (p.Val1604Gly) c.4931T>G (p.Val1644Gly) c.4859T>G (p.Val1620Gly) c.1625T>G (p.Val542Gly) c.1487T>G (p.Val496Gly) c.4049T>G (p.Val1350Gly) c.4814T>G (p.Val1605Gly) c.5003T>G (p.Val1668Gly) c.4796T>G (p.Val1599Gly) c.1499T>G (p.Val500Gly) c.1544T>G (p.Val515Gly) c.5000T>G (p.Val1667Gly) c.1324T>G c.1511T>G (p.Val504Gly) c.*4720T>G (n.*4720T>G) n.90T>G c.1250T>G (p.Val417Gly) c.5-7026T>G (n.5-7026T>G) c.410T>G (p.Val137Gly) c.-98-20787T>G (n.-98-20787T>G) n.5073T>G n.5114T>G | ClinVar dbSNP |
17 | g.43070977A>G | CA10591650 | BRCA1 | c.4934T>C (p.Val1645Ala) c.4937T>C (p.Val1646Ala) c.4811T>C (p.Val1604Ala) c.4931T>C (p.Val1644Ala) c.4859T>C (p.Val1620Ala) c.1625T>C (p.Val542Ala) c.1487T>C (p.Val496Ala) c.4049T>C (p.Val1350Ala) c.4814T>C (p.Val1605Ala) c.5003T>C (p.Val1668Ala) c.4796T>C (p.Val1599Ala) c.1499T>C (p.Val500Ala) c.1544T>C (p.Val515Ala) c.5000T>C (p.Val1667Ala) c.1324T>C c.1511T>C (p.Val504Ala) c.*4720T>C (n.*4720T>C) n.90T>C c.1250T>C (p.Val417Ala) c.5-7026T>C (n.5-7026T>C) c.410T>C (p.Val137Ala) c.-98-20787T>C (n.-98-20787T>C) n.5073T>C n.5114T>C | ClinVar dbSNP |
17 | g.43070977A>T | CA10591651 | BRCA1 | c.4934T>A (p.Val1645Asp) c.4937T>A (p.Val1646Asp) c.4811T>A (p.Val1604Asp) c.4931T>A (p.Val1644Asp) c.4859T>A (p.Val1620Asp) c.1625T>A (p.Val542Asp) c.1487T>A (p.Val496Asp) c.4049T>A (p.Val1350Asp) c.4814T>A (p.Val1605Asp) c.5003T>A (p.Val1668Asp) c.4796T>A (p.Val1599Asp) c.1499T>A (p.Val500Asp) c.1544T>A (p.Val515Asp) c.5000T>A (p.Val1667Asp) c.1324T>A c.1511T>A (p.Val504Asp) c.*4720T>A (n.*4720T>A) n.90T>A c.1250T>A (p.Val417Asp) c.5-7026T>A (n.5-7026T>A) c.410T>A (p.Val137Asp) c.-98-20787T>A (n.-98-20787T>A) n.5073T>A n.5114T>A | ClinVar dbSNP |
17 | g.43070977_43070978delinsAC | CA2260772793 | BRCA1 | c.4933_4934delinsGT (p.Val1645=) c.4936_4937delinsGT (p.Val1646=) c.4810_4811delinsGT (p.Val1604=) c.4930_4931delinsGT (p.Val1644=) c.4858_4859delinsGT (p.Val1620=) c.1624_1625delinsGT (p.Val542=) c.1486_1487delinsGT (p.Val496=) c.4048_4049delinsGT (p.Val1350=) c.4813_4814delinsGT (p.Val1605=) c.5002_5003delinsGT (p.Val1668=) c.4795_4796delinsGT (p.Val1599=) c.1498_1499delinsGT (p.Val500=) c.1543_1544delinsGT (p.Val515=) c.4999_5000delinsGT (p.Val1667=) c.1323_1324delinsGT c.1510_1511delinsGT (p.Val504=) c.*4719_*4720delinsGT (n.*4719_*4720delinsGT) n.89_90delinsGT c.1249_1250delinsGT (p.Val417=) c.5-7027_5-7026delinsGT (n.5-7027_5-7026delinsGT) c.409_410delinsGT (p.Val137=) c.-98-20788_-98-20787delinsGT (n.-98-20788_-98-20787delinsGT) n.5072_5073delinsGT n.5113_5114delinsGT | |
17 | g.43070978C>A | CA10591652 | BRCA1 | c.4933G>T (p.Val1645Phe) c.4936G>T (p.Val1646Phe) c.4810G>T (p.Val1604Phe) c.4930G>T (p.Val1644Phe) c.4858G>T (p.Val1620Phe) c.1624G>T (p.Val542Phe) c.1486G>T (p.Val496Phe) c.4048G>T (p.Val1350Phe) c.4813G>T (p.Val1605Phe) c.5002G>T (p.Val1668Phe) c.4795G>T (p.Val1599Phe) c.1498G>T (p.Val500Phe) c.1543G>T (p.Val515Phe) c.4999G>T (p.Val1667Phe) c.1323G>T c.1510G>T (p.Val504Phe) c.*4719G>T (n.*4719G>T) n.89G>T c.1249G>T (p.Val417Phe) c.5-7027G>T (n.5-7027G>T) c.409G>T (p.Val137Phe) c.-98-20788G>T (n.-98-20788G>T) n.5072G>T n.5113G>T | ClinVar dbSNP |
17 | g.43070978C= | CA2260772794 | BRCA1 | c.4933G= (p.Val1645=) c.4936G= (p.Val1646=) c.4810G= (p.Val1604=) c.4930G= (p.Val1644=) c.4858G= (p.Val1620=) c.1624G= (p.Val542=) c.1486G= (p.Val496=) c.4048G= (p.Val1350=) c.4813G= (p.Val1605=) c.5002G= (p.Val1668=) c.4795G= (p.Val1599=) c.1498G= (p.Val500=) c.1543G= (p.Val515=) c.4999G= (p.Val1667=) c.1323G= c.1510G= (p.Val504=) c.*4719G= (n.*4719G=) n.89G= c.1249G= (p.Val417=) c.5-7027G= (n.5-7027G=) c.409G= (p.Val137=) c.-98-20788G= (n.-98-20788G=) n.5072G= n.5113G= | |
17 | g.43070978C>G | CA10591653 | BRCA1 | c.4933G>C (p.Val1645Leu) c.4936G>C (p.Val1646Leu) c.4810G>C (p.Val1604Leu) c.4930G>C (p.Val1644Leu) c.4858G>C (p.Val1620Leu) c.1624G>C (p.Val542Leu) c.1486G>C (p.Val496Leu) c.4048G>C (p.Val1350Leu) c.4813G>C (p.Val1605Leu) c.5002G>C (p.Val1668Leu) c.4795G>C (p.Val1599Leu) c.1498G>C (p.Val500Leu) c.1543G>C (p.Val515Leu) c.4999G>C (p.Val1667Leu) c.1323G>C c.1510G>C (p.Val504Leu) c.*4719G>C (n.*4719G>C) n.89G>C c.1249G>C (p.Val417Leu) c.5-7027G>C (n.5-7027G>C) c.409G>C (p.Val137Leu) c.-98-20788G>C (n.-98-20788G>C) n.5072G>C n.5113G>C | ClinVar dbSNP |
17 | g.43070978C>T | CA10591654 | BRCA1 | c.4933G>A (p.Val1645Ile) c.4936G>A (p.Val1646Ile) c.4810G>A (p.Val1604Ile) c.4930G>A (p.Val1644Ile) c.4858G>A (p.Val1620Ile) c.1624G>A (p.Val542Ile) c.1486G>A (p.Val496Ile) c.4048G>A (p.Val1350Ile) c.4813G>A (p.Val1605Ile) c.5002G>A (p.Val1668Ile) c.4795G>A (p.Val1599Ile) c.1498G>A (p.Val500Ile) c.1543G>A (p.Val515Ile) c.4999G>A (p.Val1667Ile) c.1323G>A c.1510G>A (p.Val504Ile) c.*4719G>A (n.*4719G>A) n.89G>A c.1249G>A (p.Val417Ile) c.5-7027G>A (n.5-7027G>A) c.409G>A (p.Val137Ile) c.-98-20788G>A (n.-98-20788G>A) n.5072G>A n.5113G>A | ClinVar dbSNP gnomAD v4 |
17 | g.43070980dup | CA2695195948 | BRCA1 | c.4933dup (p.Val1645GlyfsTer?) c.4936dup (p.Val1646GlyfsTer?) c.4810dup (p.Val1604GlyfsTer?) c.4930dup (p.Val1644GlyfsTer?) c.4858dup (p.Val1620GlyfsTer?) c.1624dup (p.Val542GlyfsTer?) c.1486dup (p.Val496GlyfsTer?) c.4048dup (p.Val1350GlyfsTer?) c.4813dup (p.Val1605GlyfsTer?) c.5002dup (p.Val1668GlyfsTer?) c.4795dup (p.Val1599GlyfsTer?) c.1498dup (p.Val500GlyfsTer?) c.1543dup (p.Val515GlyfsTer29) c.4999dup (p.Val1667GlyfsTer?) c.1323dup c.1510dup (p.Val504GlyfsTer?) c.*4719dup (n.*4719dup) n.89dup c.1249dup (p.Val417GlyfsTer?) c.5-7027dup (n.5-7027dup) c.409dup (p.Val137GlyfsTer?) c.-98-20788dup (n.-98-20788dup) n.5072dup n.5113dup | |
17 | g.43070980del | CA003086 | BRCA1 | c.4933del (p.Val1645SerfsTer12) c.4936del (p.Val1646SerfsTer12) c.4810del (p.Val1604SerfsTer12) c.4930del (p.Val1644SerfsTer12) c.4858del (p.Val1620SerfsTer12) c.1624del (p.Val542SerfsTer12) c.1486del (p.Val496SerfsTer12) c.4048del (p.Val1350SerfsTer12) c.4813del (p.Val1605SerfsTer12) c.5002del (p.Val1668SerfsTer12) c.4795del (p.Val1599SerfsTer12) c.1498del (p.Val500SerfsTer12) c.1543del (p.Val515SerfsTer12) c.4999del (p.Val1667SerfsTer12) c.1323del c.1510del (p.Val504SerfsTer12) c.*4719del (n.*4719del) n.89del c.1249del (p.Val417SerfsTer12) c.5-7027del (n.5-7027del) c.409del (p.Val137SerfsTer12) c.-98-20788del (n.-98-20788del) n.5072del n.5113del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.43070978_43070979insTT | CA658825002 | BRCA1 | c.4932_4933insAA (p.Val1645LysfsTer13) c.4935_4936insAA (p.Val1646LysfsTer13) c.4809_4810insAA (p.Val1604LysfsTer13) c.4929_4930insAA (p.Val1644LysfsTer13) c.4857_4858insAA (p.Val1620LysfsTer13) c.1623_1624insAA (p.Val542LysfsTer13) c.1485_1486insAA (p.Val496LysfsTer13) c.4047_4048insAA (p.Val1350LysfsTer13) c.4812_4813insAA (p.Val1605LysfsTer13) c.5001_5002insAA (p.Val1668LysfsTer13) c.4794_4795insAA (p.Val1599LysfsTer13) c.1497_1498insAA (p.Val500LysfsTer13) c.1542_1543insAA (p.Val515LysfsTer13) c.4998_4999insAA (p.Val1667LysfsTer13) c.1322_1323insAA c.1509_1510insAA (p.Val504LysfsTer13) c.*4718_*4719insAA (n.*4718_*4719insAA) n.88_89insAA c.1248_1249insAA (p.Val417LysfsTer13) c.5-7028_5-7027insAA (n.5-7028_5-7027insAA) c.408_409insAA (p.Val137LysfsTer13) c.-98-20789_-98-20788insAA (n.-98-20789_-98-20788insAA) n.5071_5072insAA n.5112_5113insAA | ClinVar dbSNP |
17 | g.43070979C>A | CA10591655 | BRCA1 | c.4932G>T (p.Arg1644Ser) c.4935G>T (p.Arg1645Ser) c.4809G>T (p.Arg1603Ser) c.4929G>T (p.Arg1643Ser) c.4857G>T (p.Arg1619Ser) c.1623G>T (p.Arg541Ser) c.1485G>T (p.Arg495Ser) c.4047G>T (p.Arg1349Ser) c.4812G>T (p.Arg1604Ser) c.5001G>T (p.Arg1667Ser) c.4794G>T (p.Arg1598Ser) c.1497G>T (p.Arg499Ser) c.1542G>T (p.Arg514Ser) c.4998G>T (p.Arg1666Ser) c.1322G>T c.1509G>T (p.Arg503Ser) c.*4718G>T (n.*4718G>T) n.88G>T c.1248G>T (p.Arg416Ser) c.5-7028G>T (n.5-7028G>T) c.408G>T (p.Arg136Ser) c.-98-20789G>T (n.-98-20789G>T) n.5071G>T n.5112G>T | ClinVar dbSNP |
17 | g.43070979C= | CA2260772795 | BRCA1 | c.4932G= (p.Arg1644=) c.4935G= (p.Arg1645=) c.4809G= (p.Arg1603=) c.4929G= (p.Arg1643=) c.4857G= (p.Arg1619=) c.1623G= (p.Arg541=) c.1485G= (p.Arg495=) c.4047G= (p.Arg1349=) c.4812G= (p.Arg1604=) c.5001G= (p.Arg1667=) c.4794G= (p.Arg1598=) c.1497G= (p.Arg499=) c.1542G= (p.Arg514=) c.4998G= (p.Arg1666=) c.1322G= c.1509G= (p.Arg503=) c.*4718G= (n.*4718G=) n.88G= c.1248G= (p.Arg416=) c.5-7028G= (n.5-7028G=) c.408G= (p.Arg136=) c.-98-20789G= (n.-98-20789G=) n.5071G= n.5112G= | |
17 | g.43070979C>G | CA003089 | BRCA1 | c.4932G>C (p.Arg1644Ser) c.4935G>C (p.Arg1645Ser) c.4809G>C (p.Arg1603Ser) c.4929G>C (p.Arg1643Ser) c.4857G>C (p.Arg1619Ser) c.1623G>C (p.Arg541Ser) c.1485G>C (p.Arg495Ser) c.4047G>C (p.Arg1349Ser) c.4812G>C (p.Arg1604Ser) c.5001G>C (p.Arg1667Ser) c.4794G>C (p.Arg1598Ser) c.1497G>C (p.Arg499Ser) c.1542G>C (p.Arg514Ser) c.4998G>C (p.Arg1666Ser) c.1322G>C c.1509G>C (p.Arg503Ser) c.*4718G>C (n.*4718G>C) n.88G>C c.1248G>C (p.Arg416Ser) c.5-7028G>C (n.5-7028G>C) c.408G>C (p.Arg136Ser) c.-98-20789G>C (n.-98-20789G>C) n.5071G>C n.5112G>C | ClinVar dbSNP gnomAD v4 |
17 | g.43070979C>T | CA500231627 | BRCA1 | c.4932G>A (p.Arg1644=) c.4935G>A (p.Arg1645=) c.4809G>A (p.Arg1603=) c.4929G>A (p.Arg1643=) c.4857G>A (p.Arg1619=) c.1623G>A (p.Arg541=) c.1485G>A (p.Arg495=) c.4047G>A (p.Arg1349=) c.4812G>A (p.Arg1604=) c.5001G>A (p.Arg1667=) c.4794G>A (p.Arg1598=) c.1497G>A (p.Arg499=) c.1542G>A (p.Arg514=) c.4998G>A (p.Arg1666=) c.1322G>A c.1509G>A (p.Arg503=) c.*4718G>A (n.*4718G>A) n.88G>A c.1248G>A (p.Arg416=) c.5-7028G>A (n.5-7028G>A) c.408G>A (p.Arg136=) c.-98-20789G>A (n.-98-20789G>A) n.5071G>A n.5112G>A | ClinVar dbSNP |
17 | g.43070979_43070980insTTGTC | CA2733912913 | BRCA1 | c.4932_4933insACAAG (p.Val1645ThrfsTer14) c.4935_4936insACAAG (p.Val1646ThrfsTer14) c.4809_4810insACAAG (p.Val1604ThrfsTer14) c.4929_4930insACAAG (p.Val1644ThrfsTer14) c.4857_4858insACAAG (p.Val1620ThrfsTer14) c.1623_1624insACAAG (p.Val542ThrfsTer14) c.1485_1486insACAAG (p.Val496ThrfsTer14) c.4047_4048insACAAG (p.Val1350ThrfsTer14) c.4812_4813insACAAG (p.Val1605ThrfsTer14) c.5001_5002insACAAG (p.Val1668ThrfsTer14) c.4794_4795insACAAG (p.Val1599ThrfsTer14) c.1497_1498insACAAG (p.Val500ThrfsTer14) c.1542_1543insACAAG (p.Val515ThrfsTer14) c.4998_4999insACAAG (p.Val1667ThrfsTer14) c.1322_1323insACAAG c.1509_1510insACAAG (p.Val504ThrfsTer14) c.*4718_*4719insACAAG (n.*4718_*4719insACAAG) n.88_89insACAAG c.1248_1249insACAAG (p.Val417ThrfsTer14) c.5-7028_5-7027insACAAG (n.5-7028_5-7027insACAAG) c.408_409insACAAG (p.Val137ThrfsTer14) c.-98-20789_-98-20788insACAAG (n.-98-20789_-98-20788insACAAG) n.5071_5072insACAAG n.5112_5113insACAAG | dbSNP |
17 | g.43070979_43070980insTT | CA645373140 | BRCA1 | c.4931_4932insAA (p.Val1645ArgfsTer13) c.4934_4935insAA (p.Val1646ArgfsTer13) c.4808_4809insAA (p.Val1604ArgfsTer13) c.4928_4929insAA (p.Val1644ArgfsTer13) c.4856_4857insAA (p.Val1620ArgfsTer13) c.1622_1623insAA (p.Val542ArgfsTer13) c.1484_1485insAA (p.Val496ArgfsTer13) c.4046_4047insAA (p.Val1350ArgfsTer13) c.4811_4812insAA (p.Val1605ArgfsTer13) c.5000_5001insAA (p.Val1668ArgfsTer13) c.4793_4794insAA (p.Val1599ArgfsTer13) c.1496_1497insAA (p.Val500ArgfsTer13) c.1541_1542insAA (p.Val515ArgfsTer13) c.4997_4998insAA (p.Val1667ArgfsTer13) c.1321_1322insAA c.1508_1509insAA (p.Val504ArgfsTer13) c.*4717_*4718insAA (n.*4717_*4718insAA) n.87_88insAA c.1247_1248insAA (p.Val417ArgfsTer13) c.5-7029_5-7028insAA (n.5-7029_5-7028insAA) c.407_408insAA (p.Val137ArgfsTer13) c.-98-20790_-98-20789insAA (n.-98-20790_-98-20789insAA) n.5070_5071insAA n.5111_5112insAA | ClinVar dbSNP |
17 | g.43070980C>A | CA003088 | BRCA1 | c.4931G>T (p.Arg1644Met) c.4934G>T (p.Arg1645Met) c.4808G>T (p.Arg1603Met) c.4928G>T (p.Arg1643Met) c.4856G>T (p.Arg1619Met) c.1622G>T (p.Arg541Met) c.1484G>T (p.Arg495Met) c.4046G>T (p.Arg1349Met) c.4811G>T (p.Arg1604Met) c.5000G>T (p.Arg1667Met) c.4793G>T (p.Arg1598Met) c.1496G>T (p.Arg499Met) c.1541G>T (p.Arg514Met) c.4997G>T (p.Arg1666Met) c.1321G>T c.1508G>T (p.Arg503Met) c.*4717G>T (n.*4717G>T) n.87G>T c.1247G>T (p.Arg416Met) c.5-7029G>T (n.5-7029G>T) c.407G>T (p.Arg136Met) c.-98-20790G>T (n.-98-20790G>T) n.5070G>T n.5111G>T | ClinVar dbSNP |
17 | g.43070980C= | CA2260772796 | BRCA1 | c.4931G= (p.Arg1644=) c.4934G= (p.Arg1645=) c.4808G= (p.Arg1603=) c.4928G= (p.Arg1643=) c.4856G= (p.Arg1619=) c.1622G= (p.Arg541=) c.1484G= (p.Arg495=) c.4046G= (p.Arg1349=) c.4811G= (p.Arg1604=) c.5000G= (p.Arg1667=) c.4793G= (p.Arg1598=) c.1496G= (p.Arg499=) c.1541G= (p.Arg514=) c.4997G= (p.Arg1666=) c.1321G= c.1508G= (p.Arg503=) c.*4717G= (n.*4717G=) n.87G= c.1247G= (p.Arg416=) c.5-7029G= (n.5-7029G=) c.407G= (p.Arg136=) c.-98-20790G= (n.-98-20790G=) n.5070G= n.5111G= | |
17 | g.43070980C>G | CA003087 | BRCA1 | c.4931G>C (p.Arg1644Thr) c.4934G>C (p.Arg1645Thr) c.4808G>C (p.Arg1603Thr) c.4928G>C (p.Arg1643Thr) c.4856G>C (p.Arg1619Thr) c.1622G>C (p.Arg541Thr) c.1484G>C (p.Arg495Thr) c.4046G>C (p.Arg1349Thr) c.4811G>C (p.Arg1604Thr) c.5000G>C (p.Arg1667Thr) c.4793G>C (p.Arg1598Thr) c.1496G>C (p.Arg499Thr) c.1541G>C (p.Arg514Thr) c.4997G>C (p.Arg1666Thr) c.1321G>C c.1508G>C (p.Arg503Thr) c.*4717G>C (n.*4717G>C) n.87G>C c.1247G>C (p.Arg416Thr) c.5-7029G>C (n.5-7029G>C) c.407G>C (p.Arg136Thr) c.-98-20790G>C (n.-98-20790G>C) n.5070G>C n.5111G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43070980C>T | CA10591656 | BRCA1 | c.4931G>A (p.Arg1644Lys) c.4934G>A (p.Arg1645Lys) c.4808G>A (p.Arg1603Lys) c.4928G>A (p.Arg1643Lys) c.4856G>A (p.Arg1619Lys) c.1622G>A (p.Arg541Lys) c.1484G>A (p.Arg495Lys) c.4046G>A (p.Arg1349Lys) c.4811G>A (p.Arg1604Lys) c.5000G>A (p.Arg1667Lys) c.4793G>A (p.Arg1598Lys) c.1496G>A (p.Arg499Lys) c.1541G>A (p.Arg514Lys) c.4997G>A (p.Arg1666Lys) c.1321G>A c.1508G>A (p.Arg503Lys) c.*4717G>A (n.*4717G>A) n.87G>A c.1247G>A (p.Arg416Lys) c.5-7029G>A (n.5-7029G>A) c.407G>A (p.Arg136Lys) c.-98-20790G>A (n.-98-20790G>A) n.5070G>A n.5111G>A | ClinVar dbSNP |
17 | g.43070981T>A | CA10591657 | BRCA1 | c.4930A>T (p.Arg1644Trp) c.4933A>T (p.Arg1645Trp) c.4807A>T (p.Arg1603Trp) c.4927A>T (p.Arg1643Trp) c.4855A>T (p.Arg1619Trp) c.1621A>T (p.Arg541Trp) c.1483A>T (p.Arg495Trp) c.4045A>T (p.Arg1349Trp) c.4810A>T (p.Arg1604Trp) c.4999A>T (p.Arg1667Trp) c.4792A>T (p.Arg1598Trp) c.1495A>T (p.Arg499Trp) c.1540A>T (p.Arg514Trp) c.4996A>T (p.Arg1666Trp) c.1320A>T c.1507A>T (p.Arg503Trp) c.*4716A>T (n.*4716A>T) n.86A>T c.1246A>T (p.Arg416Trp) c.5-7030A>T (n.5-7030A>T) c.406A>T (p.Arg136Trp) c.-98-20791A>T (n.-98-20791A>T) n.5069A>T n.5110A>T | ClinVar dbSNP |
17 | g.43070981T>C | CA003084 | BRCA1 | c.4930A>G (p.Arg1644Gly) c.4933A>G (p.Arg1645Gly) c.4807A>G (p.Arg1603Gly) c.4927A>G (p.Arg1643Gly) c.4855A>G (p.Arg1619Gly) c.1621A>G (p.Arg541Gly) c.1483A>G (p.Arg495Gly) c.4045A>G (p.Arg1349Gly) c.4810A>G (p.Arg1604Gly) c.4999A>G (p.Arg1667Gly) c.4792A>G (p.Arg1598Gly) c.1495A>G (p.Arg499Gly) c.1540A>G (p.Arg514Gly) c.4996A>G (p.Arg1666Gly) c.1320A>G c.1507A>G (p.Arg503Gly) c.*4716A>G (n.*4716A>G) n.86A>G c.1246A>G (p.Arg416Gly) c.5-7030A>G (n.5-7030A>G) c.406A>G (p.Arg136Gly) c.-98-20791A>G (n.-98-20791A>G) n.5069A>G n.5110A>G | ClinVar dbSNP |
17 | g.43070981T>G | CA500231628 | BRCA1 | c.4930A>C (p.Arg1644=) c.4933A>C (p.Arg1645=) c.4807A>C (p.Arg1603=) c.4927A>C (p.Arg1643=) c.4855A>C (p.Arg1619=) c.1621A>C (p.Arg541=) c.1483A>C (p.Arg495=) c.4045A>C (p.Arg1349=) c.4810A>C (p.Arg1604=) c.4999A>C (p.Arg1667=) c.4792A>C (p.Arg1598=) c.1495A>C (p.Arg499=) c.1540A>C (p.Arg514=) c.4996A>C (p.Arg1666=) c.1320A>C c.1507A>C (p.Arg503=) c.*4716A>C (n.*4716A>C) n.86A>C c.1246A>C (p.Arg416=) c.5-7030A>C (n.5-7030A>C) c.406A>C (p.Arg136=) c.-98-20791A>C (n.-98-20791A>C) n.5069A>C n.5110A>C | ClinVar dbSNP |
17 | g.43070981T= | CA2260772797 | BRCA1 | c.4930A= (p.Arg1644=) c.4933A= (p.Arg1645=) c.4807A= (p.Arg1603=) c.4927A= (p.Arg1643=) c.4855A= (p.Arg1619=) c.1621A= (p.Arg541=) c.1483A= (p.Arg495=) c.4045A= (p.Arg1349=) c.4810A= (p.Arg1604=) c.4999A= (p.Arg1667=) c.4792A= (p.Arg1598=) c.1495A= (p.Arg499=) c.1540A= (p.Arg514=) c.4996A= (p.Arg1666=) c.1320A= c.1507A= (p.Arg503=) c.*4716A= (n.*4716A=) n.86A= c.1246A= (p.Arg416=) c.5-7030A= (n.5-7030A=) c.406A= (p.Arg136=) c.-98-20791A= (n.-98-20791A=) n.5069A= n.5110A= | |
17 | g.43070982_43070983dup | CA003083 | BRCA1 | c.4929_4930dup (p.Arg1644LysfsTer14) c.4932_4933dup (p.Arg1645LysfsTer14) c.4806_4807dup (p.Arg1603LysfsTer14) c.4926_4927dup (p.Arg1643LysfsTer14) c.4854_4855dup (p.Arg1619LysfsTer14) c.1620_1621dup (p.Arg541LysfsTer14) c.1482_1483dup (p.Arg495LysfsTer14) c.4044_4045dup (p.Arg1349LysfsTer14) c.4809_4810dup (p.Arg1604LysfsTer14) c.4998_4999dup (p.Arg1667LysfsTer14) c.4791_4792dup (p.Arg1598LysfsTer14) c.1494_1495dup (p.Arg499LysfsTer14) c.1539_1540dup (p.Arg514LysfsTer14) c.4995_4996dup (p.Arg1666LysfsTer14) c.1319_1320dup c.1506_1507dup (p.Arg503LysfsTer14) c.*4715_*4716dup (n.*4715_*4716dup) n.85_86dup c.1245_1246dup (p.Arg416LysfsTer14) c.5-7031_5-7030dup (n.5-7031_5-7030dup) c.405_406dup (p.Arg136LysfsTer14) c.-98-20792_-98-20791dup (n.-98-20792_-98-20791dup) n.5068_5069dup n.5109_5110dup | ClinVar dbSNP |
17 | g.43070983del | CA1139768351 | BRCA1 | c.4930del (p.Arg1644GlyfsTer13) c.4933del (p.Arg1645GlyfsTer13) c.4807del (p.Arg1603GlyfsTer13) c.4927del (p.Arg1643GlyfsTer13) c.4855del (p.Arg1619GlyfsTer13) c.1621del (p.Arg541GlyfsTer13) c.1483del (p.Arg495GlyfsTer13) c.4045del (p.Arg1349GlyfsTer13) c.4810del (p.Arg1604GlyfsTer13) c.4999del (p.Arg1667GlyfsTer13) c.4792del (p.Arg1598GlyfsTer13) c.1495del (p.Arg499GlyfsTer13) c.1540del (p.Arg514GlyfsTer13) c.4996del (p.Arg1666GlyfsTer13) c.1320del c.1507del (p.Arg503GlyfsTer13) c.*4716del (n.*4716del) n.86del c.1246del (p.Arg416GlyfsTer13) c.5-7030del (n.5-7030del) c.406del (p.Arg136GlyfsTer13) c.-98-20791del (n.-98-20791del) n.5069del n.5110del | ClinVar dbSNP |
17 | g.43070982T>A | CA10591658 | BRCA1 | c.4929A>T (p.Glu1643Asp) c.4932A>T (p.Glu1644Asp) c.4806A>T (p.Glu1602Asp) c.4926A>T (p.Glu1642Asp) c.4854A>T (p.Glu1618Asp) c.1620A>T (p.Glu540Asp) c.1482A>T (p.Glu494Asp) c.4044A>T (p.Glu1348Asp) c.4809A>T (p.Glu1603Asp) c.4998A>T (p.Glu1666Asp) c.4791A>T (p.Glu1597Asp) c.1494A>T (p.Glu498Asp) c.1539A>T (p.Glu513Asp) c.4995A>T (p.Glu1665Asp) c.1319A>T c.1506A>T (p.Glu502Asp) c.*4715A>T (n.*4715A>T) n.85A>T c.1245A>T (p.Glu415Asp) c.5-7031A>T (n.5-7031A>T) c.405A>T (p.Glu135Asp) c.-98-20792A>T (n.-98-20792A>T) n.5068A>T n.5109A>T | ClinVar dbSNP |
17 | g.43070982T>C | CA500231630 | BRCA1 | c.4929A>G (p.Glu1643=) c.4932A>G (p.Glu1644=) c.4806A>G (p.Glu1602=) c.4926A>G (p.Glu1642=) c.4854A>G (p.Glu1618=) c.1620A>G (p.Glu540=) c.1482A>G (p.Glu494=) c.4044A>G (p.Glu1348=) c.4809A>G (p.Glu1603=) c.4998A>G (p.Glu1666=) c.4791A>G (p.Glu1597=) c.1494A>G (p.Glu498=) c.1539A>G (p.Glu513=) c.4995A>G (p.Glu1665=) c.1319A>G c.1506A>G (p.Glu502=) c.*4715A>G (n.*4715A>G) n.85A>G c.1245A>G (p.Glu415=) c.5-7031A>G (n.5-7031A>G) c.405A>G (p.Glu135=) c.-98-20792A>G (n.-98-20792A>G) n.5068A>G n.5109A>G | ClinVar dbSNP |
17 | g.43070982T>G | CA10591659 | BRCA1 | c.4929A>C (p.Glu1643Asp) c.4932A>C (p.Glu1644Asp) c.4806A>C (p.Glu1602Asp) c.4926A>C (p.Glu1642Asp) c.4854A>C (p.Glu1618Asp) c.1620A>C (p.Glu540Asp) c.1482A>C (p.Glu494Asp) c.4044A>C (p.Glu1348Asp) c.4809A>C (p.Glu1603Asp) c.4998A>C (p.Glu1666Asp) c.4791A>C (p.Glu1597Asp) c.1494A>C (p.Glu498Asp) c.1539A>C (p.Glu513Asp) c.4995A>C (p.Glu1665Asp) c.1319A>C c.1506A>C (p.Glu502Asp) c.*4715A>C (n.*4715A>C) n.85A>C c.1245A>C (p.Glu415Asp) c.5-7031A>C (n.5-7031A>C) c.405A>C (p.Glu135Asp) c.-98-20792A>C (n.-98-20792A>C) n.5068A>C n.5109A>C | ClinVar dbSNP |
17 | g.43070982T= | CA2260772799 | BRCA1 | c.4929A= (p.Glu1643=) c.4932A= (p.Glu1644=) c.4806A= (p.Glu1602=) c.4926A= (p.Glu1642=) c.4854A= (p.Glu1618=) c.1620A= (p.Glu540=) c.1482A= (p.Glu494=) c.4044A= (p.Glu1348=) c.4809A= (p.Glu1603=) c.4998A= (p.Glu1666=) c.4791A= (p.Glu1597=) c.1494A= (p.Glu498=) c.1539A= (p.Glu513=) c.4995A= (p.Glu1665=) c.1319A= c.1506A= (p.Glu502=) c.*4715A= (n.*4715A=) n.85A= c.1245A= (p.Glu415=) c.5-7031A= (n.5-7031A=) c.405A= (p.Glu135=) c.-98-20792A= (n.-98-20792A=) n.5068A= n.5109A= | |
17 | g.43070982_43070984delinsTTC | CA2260772798 | BRCA1 | c.4927_4929delinsGAA (p.Glu1643=) c.4930_4932delinsGAA (p.Glu1644=) c.4804_4806delinsGAA (p.Glu1602=) c.4924_4926delinsGAA (p.Glu1642=) c.4852_4854delinsGAA (p.Glu1618=) c.1618_1620delinsGAA (p.Glu540=) c.1480_1482delinsGAA (p.Glu494=) c.4042_4044delinsGAA (p.Glu1348=) c.4807_4809delinsGAA (p.Glu1603=) c.4996_4998delinsGAA (p.Glu1666=) c.4789_4791delinsGAA (p.Glu1597=) c.1492_1494delinsGAA (p.Glu498=) c.1537_1539delinsGAA (p.Glu513=) c.4993_4995delinsGAA (p.Glu1665=) c.1317_1319delinsGAA c.1504_1506delinsGAA (p.Glu502=) c.*4713_*4715delinsGAA (n.*4713_*4715delinsGAA) n.83_85delinsGAA c.1243_1245delinsGAA (p.Glu415=) c.5-7033_5-7031delinsGAA (n.5-7033_5-7031delinsGAA) c.403_405delinsGAA (p.Glu135=) c.-98-20794_-98-20792delinsGAA (n.-98-20794_-98-20792delinsGAA) n.5066_5068delinsGAA n.5107_5109delinsGAA | |
17 | g.43070983T>A | CA10591660 | BRCA1 | c.4928A>T (p.Glu1643Val) c.4931A>T (p.Glu1644Val) c.4805A>T (p.Glu1602Val) c.4925A>T (p.Glu1642Val) c.4853A>T (p.Glu1618Val) c.1619A>T (p.Glu540Val) c.1481A>T (p.Glu494Val) c.4043A>T (p.Glu1348Val) c.4808A>T (p.Glu1603Val) c.4997A>T (p.Glu1666Val) c.4790A>T (p.Glu1597Val) c.1493A>T (p.Glu498Val) c.1538A>T (p.Glu513Val) c.4994A>T (p.Glu1665Val) c.1318A>T c.1505A>T (p.Glu502Val) c.*4714A>T (n.*4714A>T) n.84A>T c.1244A>T (p.Glu415Val) c.5-7032A>T (n.5-7032A>T) c.404A>T (p.Glu135Val) c.-98-20793A>T (n.-98-20793A>T) n.5067A>T n.5108A>T | ClinVar dbSNP |
17 | g.43070983T>C | CA003082 | BRCA1 | c.4928A>G (p.Glu1643Gly) c.4931A>G (p.Glu1644Gly) c.4805A>G (p.Glu1602Gly) c.4925A>G (p.Glu1642Gly) c.4853A>G (p.Glu1618Gly) c.1619A>G (p.Glu540Gly) c.1481A>G (p.Glu494Gly) c.4043A>G (p.Glu1348Gly) c.4808A>G (p.Glu1603Gly) c.4997A>G (p.Glu1666Gly) c.4790A>G (p.Glu1597Gly) c.1493A>G (p.Glu498Gly) c.1538A>G (p.Glu513Gly) c.4994A>G (p.Glu1665Gly) c.1318A>G c.1505A>G (p.Glu502Gly) c.*4714A>G (n.*4714A>G) n.84A>G c.1244A>G (p.Glu415Gly) c.5-7032A>G (n.5-7032A>G) c.404A>G (p.Glu135Gly) c.-98-20793A>G (n.-98-20793A>G) n.5067A>G n.5108A>G | ClinVar dbSNP gnomAD v4 |
17 | g.43070983T>G | CA10591661 | BRCA1 | c.4928A>C (p.Glu1643Ala) c.4931A>C (p.Glu1644Ala) c.4805A>C (p.Glu1602Ala) c.4925A>C (p.Glu1642Ala) c.4853A>C (p.Glu1618Ala) c.1619A>C (p.Glu540Ala) c.1481A>C (p.Glu494Ala) c.4043A>C (p.Glu1348Ala) c.4808A>C (p.Glu1603Ala) c.4997A>C (p.Glu1666Ala) c.4790A>C (p.Glu1597Ala) c.1493A>C (p.Glu498Ala) c.1538A>C (p.Glu513Ala) c.4994A>C (p.Glu1665Ala) c.1318A>C c.1505A>C (p.Glu502Ala) c.*4714A>C (n.*4714A>C) n.84A>C c.1244A>C (p.Glu415Ala) c.5-7032A>C (n.5-7032A>C) c.404A>C (p.Glu135Ala) c.-98-20793A>C (n.-98-20793A>C) n.5067A>C n.5108A>C | ClinVar dbSNP |
17 | g.43070983T= | CA2260772800 | BRCA1 | c.4928A= (p.Glu1643=) c.4931A= (p.Glu1644=) c.4805A= (p.Glu1602=) c.4925A= (p.Glu1642=) c.4853A= (p.Glu1618=) c.1619A= (p.Glu540=) c.1481A= (p.Glu494=) c.4043A= (p.Glu1348=) c.4808A= (p.Glu1603=) c.4997A= (p.Glu1666=) c.4790A= (p.Glu1597=) c.1493A= (p.Glu498=) c.1538A= (p.Glu513=) c.4994A= (p.Glu1665=) c.1318A= c.1505A= (p.Glu502=) c.*4714A= (n.*4714A=) n.84A= c.1244A= (p.Glu415=) c.5-7032A= (n.5-7032A=) c.404A= (p.Glu135=) c.-98-20793A= (n.-98-20793A=) n.5067A= n.5108A= |