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.43071026_43071033del | CA2582342171 | BRCA1 | c.4880_4887del (p.Met1627LysfsTer?) c.4883_4890del (p.Met1628LysfsTer?) c.4757_4764del (p.Met1586LysfsTer?) c.4877_4884del (p.Met1626LysfsTer?) c.4805_4812del (p.Met1602LysfsTer?) c.1571_1578del (p.Met524LysfsTer?) c.1433_1440del (p.Met478LysfsTer?) c.3995_4002del (p.Met1332LysfsTer?) c.4760_4767del (p.Met1587LysfsTer?) c.4949_4956del (p.Met1650LysfsTer?) c.4742_4749del (p.Met1581LysfsTer?) c.1445_1452del (p.Met482LysfsTer?) c.1490_1497del (p.Met497LysfsTer?) c.4946_4953del (p.Met1649LysfsTer?) c.1270_1277del c.1457_1464del (p.Met486LysfsTer?) c.*4666_*4673del (n.*4666_*4673del) n.36_43del c.1196_1203del (p.Met399LysfsTer?) c.5-7080_5-7073del (n.5-7080_5-7073del) c.356_363del (p.Met119LysfsTer?) c.-98-20841_-98-20834del (n.-98-20841_-98-20834del) n.5019_5026del n.5060_5067del | ClinVar |
| 17 | g.43071028_43071041delinsTCCATTGCATTATA | CA2260772853 | BRCA1 | c.4870_4883delinsTATAATGCAATGGA (p.Tyr1624=) c.4873_4886delinsTATAATGCAATGGA (p.Tyr1625=) c.4747_4760delinsTATAATGCAATGGA (p.Tyr1583=) c.4867_4880delinsTATAATGCAATGGA (p.Tyr1623=) c.4795_4808delinsTATAATGCAATGGA (p.Tyr1599=) c.1561_1574delinsTATAATGCAATGGA (p.Tyr521=) c.1423_1436delinsTATAATGCAATGGA (p.Tyr475=) c.3985_3998delinsTATAATGCAATGGA (p.Tyr1329=) c.4750_4763delinsTATAATGCAATGGA (p.Tyr1584=) c.4939_4952delinsTATAATGCAATGGA (p.Tyr1647=) c.4732_4745delinsTATAATGCAATGGA (p.Tyr1578=) c.1435_1448delinsTATAATGCAATGGA (p.Tyr479=) c.1480_1493delinsTATAATGCAATGGA (p.Tyr494=) c.4936_4949delinsTATAATGCAATGGA (p.Tyr1646=) c.1260_1273delinsTATAATGCAATGGA c.1447_1460delinsTATAATGCAATGGA (p.Tyr483=) c.*4656_*4669delinsTATAATGCAATGGA (n.*4656_*4669delinsTATAATGCAATGGA) n.26_39delinsTATAATGCAATGGA c.1186_1199delinsTATAATGCAATGGA (p.Tyr396=) c.5-7090_5-7077delinsTATAATGCAATGGA (n.5-7090_5-7077delinsTATAATGCAATGGA) c.346_359delinsTATAATGCAATGGA (p.Tyr116=) c.-98-20851_-98-20838delinsTATAATGCAATGGA (n.-98-20851_-98-20838delinsTATAATGCAATGGA) n.5009_5022delinsTATAATGCAATGGA n.5050_5063delinsTATAATGCAATGGA | |
| 17 | g.43071031_43071043del | CA003059 | BRCA1 | c.4870_4882del (p.Tyr1624LysfsTer4) c.4873_4885del (p.Tyr1625LysfsTer4) c.4747_4759del (p.Tyr1583LysfsTer4) c.4867_4879del (p.Tyr1623LysfsTer4) c.4795_4807del (p.Tyr1599LysfsTer4) c.1561_1573del (p.Tyr521LysfsTer4) c.1423_1435del (p.Tyr475LysfsTer4) c.3985_3997del (p.Tyr1329LysfsTer4) c.4750_4762del (p.Tyr1584LysfsTer4) c.4939_4951del (p.Tyr1647LysfsTer4) c.4732_4744del (p.Tyr1578LysfsTer4) c.1435_1447del (p.Tyr479LysfsTer4) c.1480_1492del (p.Tyr494LysfsTer4) c.4936_4948del (p.Tyr1646LysfsTer4) c.1260_1272del c.1447_1459del (p.Tyr483LysfsTer4) c.*4656_*4668del (n.*4656_*4668del) n.26_38del c.1186_1198del (p.Tyr396LysfsTer4) c.5-7090_5-7078del (n.5-7090_5-7078del) c.346_358del (p.Tyr116LysfsTer4) c.-98-20851_-98-20839del (n.-98-20851_-98-20839del) n.5009_5021del n.5050_5062del | ClinVar dbSNP |
| 17 | g.43071031del | CA2697559920 | BRCA1 | c.4880del (p.Met1627ArgfsTer5) c.4883del (p.Met1628ArgfsTer5) c.4757del (p.Met1586ArgfsTer5) c.4877del (p.Met1626ArgfsTer5) c.4805del (p.Met1602ArgfsTer5) c.1571del (p.Met524ArgfsTer5) c.1433del (p.Met478ArgfsTer5) c.3995del (p.Met1332ArgfsTer5) c.4760del (p.Met1587ArgfsTer5) c.4949del (p.Met1650ArgfsTer5) c.4742del (p.Met1581ArgfsTer5) c.1445del (p.Met482ArgfsTer5) c.1490del (p.Met497ArgfsTer5) c.4946del (p.Met1649ArgfsTer5) c.1270del c.1457del (p.Met486ArgfsTer5) c.*4666del (n.*4666del) n.36del c.1196del (p.Met399ArgfsTer5) c.5-7080del (n.5-7080del) c.356del (p.Met119ArgfsTer5) c.-98-20841del (n.-98-20841del) n.5019del n.5060del | ClinVar |
| 17 | g.43071031A= | CA2260772855 | BRCA1 | c.4880T= (p.Met1627=) c.4883T= (p.Met1628=) c.4757T= (p.Met1586=) c.4877T= (p.Met1626=) c.4805T= (p.Met1602=) c.1571T= (p.Met524=) c.1433T= (p.Met478=) c.3995T= (p.Met1332=) c.4760T= (p.Met1587=) c.4949T= (p.Met1650=) c.4742T= (p.Met1581=) c.1445T= (p.Met482=) c.1490T= (p.Met497=) c.4946T= (p.Met1649=) c.1270T= c.1457T= (p.Met486=) c.*4666T= (n.*4666T=) n.36T= c.1196T= (p.Met399=) c.5-7080T= (n.5-7080T=) c.356T= (p.Met119=) c.-98-20841T= (n.-98-20841T=) n.5019T= n.5060T= | |
| 17 | g.43071031A>C | CA10591762 | BRCA1 | c.4880T>G (p.Met1627Arg) c.4883T>G (p.Met1628Arg) c.4757T>G (p.Met1586Arg) c.4877T>G (p.Met1626Arg) c.4805T>G (p.Met1602Arg) c.1571T>G (p.Met524Arg) c.1433T>G (p.Met478Arg) c.3995T>G (p.Met1332Arg) c.4760T>G (p.Met1587Arg) c.4949T>G (p.Met1650Arg) c.4742T>G (p.Met1581Arg) c.1445T>G (p.Met482Arg) c.1490T>G (p.Met497Arg) c.4946T>G (p.Met1649Arg) c.1270T>G c.1457T>G (p.Met486Arg) c.*4666T>G (n.*4666T>G) n.36T>G c.1196T>G (p.Met399Arg) c.5-7080T>G (n.5-7080T>G) c.356T>G (p.Met119Arg) c.-98-20841T>G (n.-98-20841T>G) n.5019T>G n.5060T>G | dbSNP |
| 17 | g.43071031A>G | CA003062 | BRCA1 | c.4880T>C (p.Met1627Thr) c.4883T>C (p.Met1628Thr) c.4757T>C (p.Met1586Thr) c.4877T>C (p.Met1626Thr) c.4805T>C (p.Met1602Thr) c.1571T>C (p.Met524Thr) c.1433T>C (p.Met478Thr) c.3995T>C (p.Met1332Thr) c.4760T>C (p.Met1587Thr) c.4949T>C (p.Met1650Thr) c.4742T>C (p.Met1581Thr) c.1445T>C (p.Met482Thr) c.1490T>C (p.Met497Thr) c.4946T>C (p.Met1649Thr) c.1270T>C c.1457T>C (p.Met486Thr) c.*4666T>C (n.*4666T>C) n.36T>C c.1196T>C (p.Met399Thr) c.5-7080T>C (n.5-7080T>C) c.356T>C (p.Met119Thr) c.-98-20841T>C (n.-98-20841T>C) n.5019T>C n.5060T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.43071031A>T | CA10591763 | BRCA1 | c.4880T>A (p.Met1627Lys) c.4883T>A (p.Met1628Lys) c.4757T>A (p.Met1586Lys) c.4877T>A (p.Met1626Lys) c.4805T>A (p.Met1602Lys) c.1571T>A (p.Met524Lys) c.1433T>A (p.Met478Lys) c.3995T>A (p.Met1332Lys) c.4760T>A (p.Met1587Lys) c.4949T>A (p.Met1650Lys) c.4742T>A (p.Met1581Lys) c.1445T>A (p.Met482Lys) c.1490T>A (p.Met497Lys) c.4946T>A (p.Met1649Lys) c.1270T>A c.1457T>A (p.Met486Lys) c.*4666T>A (n.*4666T>A) n.36T>A c.1196T>A (p.Met399Lys) c.5-7080T>A (n.5-7080T>A) c.356T>A (p.Met119Lys) c.-98-20841T>A (n.-98-20841T>A) n.5019T>A n.5060T>A | ClinVar dbSNP |
| 17 | g.43071032T>A | CA10591764 | BRCA1 | c.4879A>T (p.Met1627Leu) c.4882A>T (p.Met1628Leu) c.4756A>T (p.Met1586Leu) c.4876A>T (p.Met1626Leu) c.4804A>T (p.Met1602Leu) c.1570A>T (p.Met524Leu) c.1432A>T (p.Met478Leu) c.3994A>T (p.Met1332Leu) c.4759A>T (p.Met1587Leu) c.4948A>T (p.Met1650Leu) c.4741A>T (p.Met1581Leu) c.1444A>T (p.Met482Leu) c.1489A>T (p.Met497Leu) c.4945A>T (p.Met1649Leu) c.1269A>T c.1456A>T (p.Met486Leu) c.*4665A>T (n.*4665A>T) n.35A>T c.1195A>T (p.Met399Leu) c.5-7081A>T (n.5-7081A>T) c.355A>T (p.Met119Leu) c.-98-20842A>T (n.-98-20842A>T) n.5018A>T n.5059A>T | dbSNP |
| 17 | g.43071032T>C | CA003061 | BRCA1 | c.4879A>G (p.Met1627Val) c.4882A>G (p.Met1628Val) c.4756A>G (p.Met1586Val) c.4876A>G (p.Met1626Val) c.4804A>G (p.Met1602Val) c.1570A>G (p.Met524Val) c.1432A>G (p.Met478Val) c.3994A>G (p.Met1332Val) c.4759A>G (p.Met1587Val) c.4948A>G (p.Met1650Val) c.4741A>G (p.Met1581Val) c.1444A>G (p.Met482Val) c.1489A>G (p.Met497Val) c.4945A>G (p.Met1649Val) c.1269A>G c.1456A>G (p.Met486Val) c.*4665A>G (n.*4665A>G) n.35A>G c.1195A>G (p.Met399Val) c.5-7081A>G (n.5-7081A>G) c.355A>G (p.Met119Val) c.-98-20842A>G (n.-98-20842A>G) n.5018A>G n.5059A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.43071032T>G | CA10591765 | BRCA1 | c.4879A>C (p.Met1627Leu) c.4882A>C (p.Met1628Leu) c.4756A>C (p.Met1586Leu) c.4876A>C (p.Met1626Leu) c.4804A>C (p.Met1602Leu) c.1570A>C (p.Met524Leu) c.1432A>C (p.Met478Leu) c.3994A>C (p.Met1332Leu) c.4759A>C (p.Met1587Leu) c.4948A>C (p.Met1650Leu) c.4741A>C (p.Met1581Leu) c.1444A>C (p.Met482Leu) c.1489A>C (p.Met497Leu) c.4945A>C (p.Met1649Leu) c.1269A>C c.1456A>C (p.Met486Leu) c.*4665A>C (n.*4665A>C) n.35A>C c.1195A>C (p.Met399Leu) c.5-7081A>C (n.5-7081A>C) c.355A>C (p.Met119Leu) c.-98-20842A>C (n.-98-20842A>C) n.5018A>C n.5059A>C | dbSNP |
| 17 | g.43071032T= | CA2260772856 | BRCA1 | c.4879A= (p.Met1627=) c.4882A= (p.Met1628=) c.4756A= (p.Met1586=) c.4876A= (p.Met1626=) c.4804A= (p.Met1602=) c.1570A= (p.Met524=) c.1432A= (p.Met478=) c.3994A= (p.Met1332=) c.4759A= (p.Met1587=) c.4948A= (p.Met1650=) c.4741A= (p.Met1581=) c.1444A= (p.Met482=) c.1489A= (p.Met497=) c.4945A= (p.Met1649=) c.1269A= c.1456A= (p.Met486=) c.*4665A= (n.*4665A=) n.35A= c.1195A= (p.Met399=) c.5-7081A= (n.5-7081A=) c.355A= (p.Met119=) c.-98-20842A= (n.-98-20842A=) n.5018A= n.5059A= | |
| 17 | g.43071033T>A | CA500231753 | BRCA1 | c.4878A>T (p.Ala1626=) c.4881A>T (p.Ala1627=) c.4755A>T (p.Ala1585=) c.4875A>T (p.Ala1625=) c.4803A>T (p.Ala1601=) c.1569A>T (p.Ala523=) c.1431A>T (p.Ala477=) c.3993A>T (p.Ala1331=) c.4758A>T (p.Ala1586=) c.4947A>T (p.Ala1649=) c.4740A>T (p.Ala1580=) c.1443A>T (p.Ala481=) c.1488A>T (p.Ala496=) c.4944A>T (p.Ala1648=) c.1268A>T c.1455A>T (p.Ala485=) c.*4664A>T (n.*4664A>T) n.34A>T c.1194A>T (p.Ala398=) c.5-7082A>T (n.5-7082A>T) c.354A>T (p.Ala118=) c.-98-20843A>T (n.-98-20843A>T) n.5017A>T n.5058A>T | dbSNP |
| 17 | g.43071033T>C | CA500231751 | BRCA1 | c.4878A>G (p.Ala1626=) c.4881A>G (p.Ala1627=) c.4755A>G (p.Ala1585=) c.4875A>G (p.Ala1625=) c.4803A>G (p.Ala1601=) c.1569A>G (p.Ala523=) c.1431A>G (p.Ala477=) c.3993A>G (p.Ala1331=) c.4758A>G (p.Ala1586=) c.4947A>G (p.Ala1649=) c.4740A>G (p.Ala1580=) c.1443A>G (p.Ala481=) c.1488A>G (p.Ala496=) c.4944A>G (p.Ala1648=) c.1268A>G c.1455A>G (p.Ala485=) c.*4664A>G (n.*4664A>G) n.34A>G c.1194A>G (p.Ala398=) c.5-7082A>G (n.5-7082A>G) c.354A>G (p.Ala118=) c.-98-20843A>G (n.-98-20843A>G) n.5017A>G n.5058A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.43071033T>G | CA500231752 | BRCA1 | c.4878A>C (p.Ala1626=) c.4881A>C (p.Ala1627=) c.4755A>C (p.Ala1585=) c.4875A>C (p.Ala1625=) c.4803A>C (p.Ala1601=) c.1569A>C (p.Ala523=) c.1431A>C (p.Ala477=) c.3993A>C (p.Ala1331=) c.4758A>C (p.Ala1586=) c.4947A>C (p.Ala1649=) c.4740A>C (p.Ala1580=) c.1443A>C (p.Ala481=) c.1488A>C (p.Ala496=) c.4944A>C (p.Ala1648=) c.1268A>C c.1455A>C (p.Ala485=) c.*4664A>C (n.*4664A>C) n.34A>C c.1194A>C (p.Ala398=) c.5-7082A>C (n.5-7082A>C) c.354A>C (p.Ala118=) c.-98-20843A>C (n.-98-20843A>C) n.5017A>C n.5058A>C | |
| 17 | g.43071033T= | CA2260772857 | BRCA1 | c.4878A= (p.Ala1626=) c.4881A= (p.Ala1627=) c.4755A= (p.Ala1585=) c.4875A= (p.Ala1625=) c.4803A= (p.Ala1601=) c.1569A= (p.Ala523=) c.1431A= (p.Ala477=) c.3993A= (p.Ala1331=) c.4758A= (p.Ala1586=) c.4947A= (p.Ala1649=) c.4740A= (p.Ala1580=) c.1443A= (p.Ala481=) c.1488A= (p.Ala496=) c.4944A= (p.Ala1648=) c.1268A= c.1455A= (p.Ala485=) c.*4664A= (n.*4664A=) n.34A= c.1194A= (p.Ala398=) c.5-7082A= (n.5-7082A=) c.354A= (p.Ala118=) c.-98-20843A= (n.-98-20843A=) n.5017A= n.5058A= | |
| 17 | g.43071034G>A | CA053410 | BRCA1 | c.4877C>T (p.Ala1626Val) c.4880C>T (p.Ala1627Val) c.4754C>T (p.Ala1585Val) c.4874C>T (p.Ala1625Val) c.4802C>T (p.Ala1601Val) c.1568C>T (p.Ala523Val) c.1430C>T (p.Ala477Val) c.3992C>T (p.Ala1331Val) c.4757C>T (p.Ala1586Val) c.4946C>T (p.Ala1649Val) c.4739C>T (p.Ala1580Val) c.1442C>T (p.Ala481Val) c.1487C>T (p.Ala496Val) c.4943C>T (p.Ala1648Val) c.1267C>T c.1454C>T (p.Ala485Val) c.*4663C>T (n.*4663C>T) n.33C>T c.1193C>T (p.Ala398Val) c.5-7083C>T (n.5-7083C>T) c.353C>T (p.Ala118Val) c.-98-20844C>T (n.-98-20844C>T) n.5016C>T n.5057C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.43071034G>C | CA10591766 | BRCA1 | c.4877C>G (p.Ala1626Gly) c.4880C>G (p.Ala1627Gly) c.4754C>G (p.Ala1585Gly) c.4874C>G (p.Ala1625Gly) c.4802C>G (p.Ala1601Gly) c.1568C>G (p.Ala523Gly) c.1430C>G (p.Ala477Gly) c.3992C>G (p.Ala1331Gly) c.4757C>G (p.Ala1586Gly) c.4946C>G (p.Ala1649Gly) c.4739C>G (p.Ala1580Gly) c.1442C>G (p.Ala481Gly) c.1487C>G (p.Ala496Gly) c.4943C>G (p.Ala1648Gly) c.1267C>G c.1454C>G (p.Ala485Gly) c.*4663C>G (n.*4663C>G) n.33C>G c.1193C>G (p.Ala398Gly) c.5-7083C>G (n.5-7083C>G) c.353C>G (p.Ala118Gly) c.-98-20844C>G (n.-98-20844C>G) n.5016C>G n.5057C>G | dbSNP |
| 17 | g.43071034G= | CA2260772858 | BRCA1 | c.4877C= (p.Ala1626=) c.4880C= (p.Ala1627=) c.4754C= (p.Ala1585=) c.4874C= (p.Ala1625=) c.4802C= (p.Ala1601=) c.1568C= (p.Ala523=) c.1430C= (p.Ala477=) c.3992C= (p.Ala1331=) c.4757C= (p.Ala1586=) c.4946C= (p.Ala1649=) c.4739C= (p.Ala1580=) c.1442C= (p.Ala481=) c.1487C= (p.Ala496=) c.4943C= (p.Ala1648=) c.1267C= c.1454C= (p.Ala485=) c.*4663C= (n.*4663C=) n.33C= c.1193C= (p.Ala398=) c.5-7083C= (n.5-7083C=) c.353C= (p.Ala118=) c.-98-20844C= (n.-98-20844C=) n.5016C= n.5057C= | |
| 17 | g.43071034G>T | CA10591767 | BRCA1 | c.4877C>A (p.Ala1626Glu) c.4880C>A (p.Ala1627Glu) c.4754C>A (p.Ala1585Glu) c.4874C>A (p.Ala1625Glu) c.4802C>A (p.Ala1601Glu) c.1568C>A (p.Ala523Glu) c.1430C>A (p.Ala477Glu) c.3992C>A (p.Ala1331Glu) c.4757C>A (p.Ala1586Glu) c.4946C>A (p.Ala1649Glu) c.4739C>A (p.Ala1580Glu) c.1442C>A (p.Ala481Glu) c.1487C>A (p.Ala496Glu) c.4943C>A (p.Ala1648Glu) c.1267C>A c.1454C>A (p.Ala485Glu) c.*4663C>A (n.*4663C>A) n.33C>A c.1193C>A (p.Ala398Glu) c.5-7083C>A (n.5-7083C>A) c.353C>A (p.Ala118Glu) c.-98-20844C>A (n.-98-20844C>A) n.5016C>A n.5057C>A | dbSNP gnomAD v4 |
| 17 | g.43071034_43071041del | CA2499224391 | BRCA1 | c.4870_4877del (p.Tyr1624AsnfsTer?) c.4873_4880del (p.Tyr1625AsnfsTer?) c.4747_4754del (p.Tyr1583AsnfsTer?) c.4867_4874del (p.Tyr1623AsnfsTer?) c.4795_4802del (p.Tyr1599AsnfsTer?) c.1561_1568del (p.Tyr521AsnfsTer?) c.1423_1430del (p.Tyr475AsnfsTer?) c.3985_3992del (p.Tyr1329AsnfsTer?) c.4750_4757del (p.Tyr1584AsnfsTer?) c.4939_4946del (p.Tyr1647AsnfsTer?) c.4732_4739del (p.Tyr1578AsnfsTer?) c.1435_1442del (p.Tyr479AsnfsTer?) c.1480_1487del (p.Tyr494AsnfsTer?) c.4936_4943del (p.Tyr1646AsnfsTer?) c.1260_1267del c.1447_1454del (p.Tyr483AsnfsTer?) c.*4656_*4663del (n.*4656_*4663del) n.26_33del c.1186_1193del (p.Tyr396AsnfsTer?) c.5-7090_5-7083del (n.5-7090_5-7083del) c.346_353del (p.Tyr116AsnfsTer?) c.-98-20851_-98-20844del (n.-98-20851_-98-20844del) n.5009_5016del n.5050_5057del | |
| 17 | g.43071035C>A | CA10591768 | BRCA1 | c.4876G>T (p.Ala1626Ser) c.4879G>T (p.Ala1627Ser) c.4753G>T (p.Ala1585Ser) c.4873G>T (p.Ala1625Ser) c.4801G>T (p.Ala1601Ser) c.1567G>T (p.Ala523Ser) c.1429G>T (p.Ala477Ser) c.3991G>T (p.Ala1331Ser) c.4756G>T (p.Ala1586Ser) c.4945G>T (p.Ala1649Ser) c.4738G>T (p.Ala1580Ser) c.1441G>T (p.Ala481Ser) c.1486G>T (p.Ala496Ser) c.4942G>T (p.Ala1648Ser) c.1266G>T c.1453G>T (p.Ala485Ser) c.*4662G>T (n.*4662G>T) n.32G>T c.1192G>T (p.Ala398Ser) c.5-7084G>T (n.5-7084G>T) c.352G>T (p.Ala118Ser) c.-98-20845G>T (n.-98-20845G>T) n.5015G>T n.5056G>T | ClinVar dbSNP |
| 17 | g.43071035C= | CA2260772859 | BRCA1 | c.4876G= (p.Ala1626=) c.4879G= (p.Ala1627=) c.4753G= (p.Ala1585=) c.4873G= (p.Ala1625=) c.4801G= (p.Ala1601=) c.1567G= (p.Ala523=) c.1429G= (p.Ala477=) c.3991G= (p.Ala1331=) c.4756G= (p.Ala1586=) c.4945G= (p.Ala1649=) c.4738G= (p.Ala1580=) c.1441G= (p.Ala481=) c.1486G= (p.Ala496=) c.4942G= (p.Ala1648=) c.1266G= c.1453G= (p.Ala485=) c.*4662G= (n.*4662G=) n.32G= c.1192G= (p.Ala398=) c.5-7084G= (n.5-7084G=) c.352G= (p.Ala118=) c.-98-20845G= (n.-98-20845G=) n.5015G= n.5056G= | |
| 17 | g.43071035C>G | CA10591769 | BRCA1 | c.4876G>C (p.Ala1626Pro) c.4879G>C (p.Ala1627Pro) c.4753G>C (p.Ala1585Pro) c.4873G>C (p.Ala1625Pro) c.4801G>C (p.Ala1601Pro) c.1567G>C (p.Ala523Pro) c.1429G>C (p.Ala477Pro) c.3991G>C (p.Ala1331Pro) c.4756G>C (p.Ala1586Pro) c.4945G>C (p.Ala1649Pro) c.4738G>C (p.Ala1580Pro) c.1441G>C (p.Ala481Pro) c.1486G>C (p.Ala496Pro) c.4942G>C (p.Ala1648Pro) c.1266G>C c.1453G>C (p.Ala485Pro) c.*4662G>C (n.*4662G>C) n.32G>C c.1192G>C (p.Ala398Pro) c.5-7084G>C (n.5-7084G>C) c.352G>C (p.Ala118Pro) c.-98-20845G>C (n.-98-20845G>C) n.5015G>C n.5056G>C | dbSNP |
| 17 | g.43071035C>T | CA053401 | BRCA1 | c.4876G>A (p.Ala1626Thr) c.4879G>A (p.Ala1627Thr) c.4753G>A (p.Ala1585Thr) c.4873G>A (p.Ala1625Thr) c.4801G>A (p.Ala1601Thr) c.1567G>A (p.Ala523Thr) c.1429G>A (p.Ala477Thr) c.3991G>A (p.Ala1331Thr) c.4756G>A (p.Ala1586Thr) c.4945G>A (p.Ala1649Thr) c.4738G>A (p.Ala1580Thr) c.1441G>A (p.Ala481Thr) c.1486G>A (p.Ala496Thr) c.4942G>A (p.Ala1648Thr) c.1266G>A c.1453G>A (p.Ala485Thr) c.*4662G>A (n.*4662G>A) n.32G>A c.1192G>A (p.Ala398Thr) c.5-7084G>A (n.5-7084G>A) c.352G>A (p.Ala118Thr) c.-98-20845G>A (n.-98-20845G>A) n.5015G>A n.5056G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.43071036del | CA2573154030 | BRCA1 | c.4875del (p.Asn1625LysfsTer7) c.4878del (p.Asn1626LysfsTer7) c.4752del (p.Asn1584LysfsTer7) c.4872del (p.Asn1624LysfsTer7) c.4800del (p.Asn1600LysfsTer7) c.1566del (p.Asn522LysfsTer7) c.1428del (p.Asn476LysfsTer7) c.3990del (p.Asn1330LysfsTer7) c.4755del (p.Asn1585LysfsTer7) c.4944del (p.Asn1648LysfsTer7) c.4737del (p.Asn1579LysfsTer7) c.1440del (p.Asn480LysfsTer7) c.1485del (p.Asn495LysfsTer7) c.4941del (p.Asn1647LysfsTer7) c.1265del c.1452del (p.Asn484LysfsTer7) c.*4661del (n.*4661del) n.31del c.1191del (p.Asn397LysfsTer7) c.5-7085del (n.5-7085del) c.351del (p.Asn117LysfsTer7) c.-98-20846del (n.-98-20846del) n.5014del n.5055del | ClinVar dbSNP |
| 17 | g.43071036A= | CA2260772861 | BRCA1 | c.4875T= (p.Asn1625=) c.4878T= (p.Asn1626=) c.4752T= (p.Asn1584=) c.4872T= (p.Asn1624=) c.4800T= (p.Asn1600=) c.1566T= (p.Asn522=) c.1428T= (p.Asn476=) c.3990T= (p.Asn1330=) c.4755T= (p.Asn1585=) c.4944T= (p.Asn1648=) c.4737T= (p.Asn1579=) c.1440T= (p.Asn480=) c.1485T= (p.Asn495=) c.4941T= (p.Asn1647=) c.1265T= c.1452T= (p.Asn484=) c.*4661T= (n.*4661T=) n.31T= c.1191T= (p.Asn397=) c.5-7085T= (n.5-7085T=) c.351T= (p.Asn117=) c.-98-20846T= (n.-98-20846T=) n.5014T= n.5055T= | |
| 17 | g.43071036A>C | CA10591770 | BRCA1 | c.4875T>G (p.Asn1625Lys) c.4878T>G (p.Asn1626Lys) c.4752T>G (p.Asn1584Lys) c.4872T>G (p.Asn1624Lys) c.4800T>G (p.Asn1600Lys) c.1566T>G (p.Asn522Lys) c.1428T>G (p.Asn476Lys) c.3990T>G (p.Asn1330Lys) c.4755T>G (p.Asn1585Lys) c.4944T>G (p.Asn1648Lys) c.4737T>G (p.Asn1579Lys) c.1440T>G (p.Asn480Lys) c.1485T>G (p.Asn495Lys) c.4941T>G (p.Asn1647Lys) c.1265T>G c.1452T>G (p.Asn484Lys) c.*4661T>G (n.*4661T>G) n.31T>G c.1191T>G (p.Asn397Lys) c.5-7085T>G (n.5-7085T>G) c.351T>G (p.Asn117Lys) c.-98-20846T>G (n.-98-20846T>G) n.5014T>G n.5055T>G | |
| 17 | g.43071036A>G | CA500231756 | BRCA1 | c.4875T>C (p.Asn1625=) c.4878T>C (p.Asn1626=) c.4752T>C (p.Asn1584=) c.4872T>C (p.Asn1624=) c.4800T>C (p.Asn1600=) c.1566T>C (p.Asn522=) c.1428T>C (p.Asn476=) c.3990T>C (p.Asn1330=) c.4755T>C (p.Asn1585=) c.4944T>C (p.Asn1648=) c.4737T>C (p.Asn1579=) c.1440T>C (p.Asn480=) c.1485T>C (p.Asn495=) c.4941T>C (p.Asn1647=) c.1265T>C c.1452T>C (p.Asn484=) c.*4661T>C (n.*4661T>C) n.31T>C c.1191T>C (p.Asn397=) c.5-7085T>C (n.5-7085T>C) c.351T>C (p.Asn117=) c.-98-20846T>C (n.-98-20846T>C) n.5014T>C n.5055T>C | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.43071036A>T | CA10591771 | BRCA1 | c.4875T>A (p.Asn1625Lys) c.4878T>A (p.Asn1626Lys) c.4752T>A (p.Asn1584Lys) c.4872T>A (p.Asn1624Lys) c.4800T>A (p.Asn1600Lys) c.1566T>A (p.Asn522Lys) c.1428T>A (p.Asn476Lys) c.3990T>A (p.Asn1330Lys) c.4755T>A (p.Asn1585Lys) c.4944T>A (p.Asn1648Lys) c.4737T>A (p.Asn1579Lys) c.1440T>A (p.Asn480Lys) c.1485T>A (p.Asn495Lys) c.4941T>A (p.Asn1647Lys) c.1265T>A c.1452T>A (p.Asn484Lys) c.*4661T>A (n.*4661T>A) n.31T>A c.1191T>A (p.Asn397Lys) c.5-7085T>A (n.5-7085T>A) c.351T>A (p.Asn117Lys) c.-98-20846T>A (n.-98-20846T>A) n.5014T>A n.5055T>A | |
| 17 | g.43071036dup | CA10589640 | BRCA1 | c.4875dup (p.Ala1626CysfsTer?) c.4878dup (p.Ala1627CysfsTer?) c.4752dup (p.Ala1585CysfsTer?) c.4872dup (p.Ala1625CysfsTer?) c.4800dup (p.Ala1601CysfsTer?) c.1566dup (p.Ala523CysfsTer?) c.1428dup (p.Ala477CysfsTer?) c.3990dup (p.Ala1331CysfsTer?) c.4755dup (p.Ala1586CysfsTer?) c.4944dup (p.Ala1649CysfsTer?) c.4737dup (p.Ala1580CysfsTer?) c.1440dup (p.Ala481CysfsTer?) c.1485dup (p.Ala496CysfsTer?) c.4941dup (p.Ala1648CysfsTer?) c.1265dup c.1452dup (p.Ala485CysfsTer?) c.*4661dup (n.*4661dup) n.31dup c.1191dup (p.Ala398CysfsTer?) c.5-7085dup (n.5-7085dup) c.351dup (p.Ala118CysfsTer?) c.-98-20846dup (n.-98-20846dup) n.5014dup n.5055dup | ClinVar dbSNP |
| 17 | g.43071036_43071037delinsAT | CA2260772860 | BRCA1 | c.4874_4875delinsAT (p.Asn1625=) c.4877_4878delinsAT (p.Asn1626=) c.4751_4752delinsAT (p.Asn1584=) c.4871_4872delinsAT (p.Asn1624=) c.4799_4800delinsAT (p.Asn1600=) c.1565_1566delinsAT (p.Asn522=) c.1427_1428delinsAT (p.Asn476=) c.3989_3990delinsAT (p.Asn1330=) c.4754_4755delinsAT (p.Asn1585=) c.4943_4944delinsAT (p.Asn1648=) c.4736_4737delinsAT (p.Asn1579=) c.1439_1440delinsAT (p.Asn480=) c.1484_1485delinsAT (p.Asn495=) c.4940_4941delinsAT (p.Asn1647=) c.1264_1265delinsAT c.1451_1452delinsAT (p.Asn484=) c.*4660_*4661delinsAT (n.*4660_*4661delinsAT) n.30_31delinsAT c.1190_1191delinsAT (p.Asn397=) c.5-7086_5-7085delinsAT (n.5-7086_5-7085delinsAT) c.350_351delinsAT (p.Asn117=) c.-98-20847_-98-20846delinsAT (n.-98-20847_-98-20846delinsAT) n.5013_5014delinsAT n.5054_5055delinsAT | |
| 17 | g.43071037T>A | CA10591772 | BRCA1 | c.4874A>T (p.Asn1625Ile) c.4877A>T (p.Asn1626Ile) c.4751A>T (p.Asn1584Ile) c.4871A>T (p.Asn1624Ile) c.4799A>T (p.Asn1600Ile) c.1565A>T (p.Asn522Ile) c.1427A>T (p.Asn476Ile) c.3989A>T (p.Asn1330Ile) c.4754A>T (p.Asn1585Ile) c.4943A>T (p.Asn1648Ile) c.4736A>T (p.Asn1579Ile) c.1439A>T (p.Asn480Ile) c.1484A>T (p.Asn495Ile) c.4940A>T (p.Asn1647Ile) c.1264A>T c.1451A>T (p.Asn484Ile) c.*4660A>T (n.*4660A>T) n.30A>T c.1190A>T (p.Asn397Ile) c.5-7086A>T (n.5-7086A>T) c.350A>T (p.Asn117Ile) c.-98-20847A>T (n.-98-20847A>T) n.5013A>T n.5054A>T | dbSNP |
| 17 | g.43071037T>C | CA10591773 | BRCA1 | c.4874A>G (p.Asn1625Ser) c.4877A>G (p.Asn1626Ser) c.4751A>G (p.Asn1584Ser) c.4871A>G (p.Asn1624Ser) c.4799A>G (p.Asn1600Ser) c.1565A>G (p.Asn522Ser) c.1427A>G (p.Asn476Ser) c.3989A>G (p.Asn1330Ser) c.4754A>G (p.Asn1585Ser) c.4943A>G (p.Asn1648Ser) c.4736A>G (p.Asn1579Ser) c.1439A>G (p.Asn480Ser) c.1484A>G (p.Asn495Ser) c.4940A>G (p.Asn1647Ser) c.1264A>G c.1451A>G (p.Asn484Ser) c.*4660A>G (n.*4660A>G) n.30A>G c.1190A>G (p.Asn397Ser) c.5-7086A>G (n.5-7086A>G) c.350A>G (p.Asn117Ser) c.-98-20847A>G (n.-98-20847A>G) n.5013A>G n.5054A>G | gnomAD v4 |
| 17 | g.43071037T>G | CA10591774 | BRCA1 | c.4874A>C (p.Asn1625Thr) c.4877A>C (p.Asn1626Thr) c.4751A>C (p.Asn1584Thr) c.4871A>C (p.Asn1624Thr) c.4799A>C (p.Asn1600Thr) c.1565A>C (p.Asn522Thr) c.1427A>C (p.Asn476Thr) c.3989A>C (p.Asn1330Thr) c.4754A>C (p.Asn1585Thr) c.4943A>C (p.Asn1648Thr) c.4736A>C (p.Asn1579Thr) c.1439A>C (p.Asn480Thr) c.1484A>C (p.Asn495Thr) c.4940A>C (p.Asn1647Thr) c.1264A>C c.1451A>C (p.Asn484Thr) c.*4660A>C (n.*4660A>C) n.30A>C c.1190A>C (p.Asn397Thr) c.5-7086A>C (n.5-7086A>C) c.350A>C (p.Asn117Thr) c.-98-20847A>C (n.-98-20847A>C) n.5013A>C n.5054A>C | |
| 17 | g.43071038del | CA10589641 | BRCA1 | c.4874del (p.Asn1625MetfsTer7) c.4877del (p.Asn1626MetfsTer7) c.4751del (p.Asn1584MetfsTer7) c.4871del (p.Asn1624MetfsTer7) c.4799del (p.Asn1600MetfsTer7) c.1565del (p.Asn522MetfsTer7) c.1427del (p.Asn476MetfsTer7) c.3989del (p.Asn1330MetfsTer7) c.4754del (p.Asn1585MetfsTer7) c.4943del (p.Asn1648MetfsTer7) c.4736del (p.Asn1579MetfsTer7) c.1439del (p.Asn480MetfsTer7) c.1484del (p.Asn495MetfsTer7) c.4940del (p.Asn1647MetfsTer7) c.1264del c.1451del (p.Asn484MetfsTer7) c.*4660del (n.*4660del) n.30del c.1190del (p.Asn397MetfsTer7) c.5-7086del (n.5-7086del) c.350del (p.Asn117MetfsTer7) c.-98-20847del (n.-98-20847del) n.5013del n.5054del | ClinVar dbSNP |
| 17 | g.43071038T>A | CA10591775 | BRCA1 | c.4873A>T (p.Asn1625Tyr) c.4876A>T (p.Asn1626Tyr) c.4750A>T (p.Asn1584Tyr) c.4870A>T (p.Asn1624Tyr) c.4798A>T (p.Asn1600Tyr) c.1564A>T (p.Asn522Tyr) c.1426A>T (p.Asn476Tyr) c.3988A>T (p.Asn1330Tyr) c.4753A>T (p.Asn1585Tyr) c.4942A>T (p.Asn1648Tyr) c.4735A>T (p.Asn1579Tyr) c.1438A>T (p.Asn480Tyr) c.1483A>T (p.Asn495Tyr) c.4939A>T (p.Asn1647Tyr) c.1263A>T c.1450A>T (p.Asn484Tyr) c.*4659A>T (n.*4659A>T) n.29A>T c.1189A>T (p.Asn397Tyr) c.5-7087A>T (n.5-7087A>T) c.349A>T (p.Asn117Tyr) c.-98-20848A>T (n.-98-20848A>T) n.5012A>T n.5053A>T | dbSNP |
| 17 | g.43071038T>C | CA10591776 | BRCA1 | c.4873A>G (p.Asn1625Asp) c.4876A>G (p.Asn1626Asp) c.4750A>G (p.Asn1584Asp) c.4870A>G (p.Asn1624Asp) c.4798A>G (p.Asn1600Asp) c.1564A>G (p.Asn522Asp) c.1426A>G (p.Asn476Asp) c.3988A>G (p.Asn1330Asp) c.4753A>G (p.Asn1585Asp) c.4942A>G (p.Asn1648Asp) c.4735A>G (p.Asn1579Asp) c.1438A>G (p.Asn480Asp) c.1483A>G (p.Asn495Asp) c.4939A>G (p.Asn1647Asp) c.1263A>G c.1450A>G (p.Asn484Asp) c.*4659A>G (n.*4659A>G) n.29A>G c.1189A>G (p.Asn397Asp) c.5-7087A>G (n.5-7087A>G) c.349A>G (p.Asn117Asp) c.-98-20848A>G (n.-98-20848A>G) n.5012A>G n.5053A>G | ClinVar |
| 17 | g.43071038T>G | CA10591777 | BRCA1 | c.4873A>C (p.Asn1625His) c.4876A>C (p.Asn1626His) c.4750A>C (p.Asn1584His) c.4870A>C (p.Asn1624His) c.4798A>C (p.Asn1600His) c.1564A>C (p.Asn522His) c.1426A>C (p.Asn476His) c.3988A>C (p.Asn1330His) c.4753A>C (p.Asn1585His) c.4942A>C (p.Asn1648His) c.4735A>C (p.Asn1579His) c.1438A>C (p.Asn480His) c.1483A>C (p.Asn495His) c.4939A>C (p.Asn1647His) c.1263A>C c.1450A>C (p.Asn484His) c.*4659A>C (n.*4659A>C) n.29A>C c.1189A>C (p.Asn397His) c.5-7087A>C (n.5-7087A>C) c.349A>C (p.Asn117His) c.-98-20848A>C (n.-98-20848A>C) n.5012A>C n.5053A>C | |
| 17 | g.43071038_43071041dup | CA2695225906 | BRCA1 | c.4870_4873dup (p.Asn1625IlefsTer2) c.4873_4876dup (p.Asn1626IlefsTer2) c.4747_4750dup (p.Asn1584IlefsTer2) c.4867_4870dup (p.Asn1624IlefsTer2) c.4795_4798dup (p.Asn1600IlefsTer2) c.1561_1564dup (p.Asn522IlefsTer2) c.1423_1426dup (p.Asn476IlefsTer2) c.3985_3988dup (p.Asn1330IlefsTer2) c.4750_4753dup (p.Asn1585IlefsTer2) c.4939_4942dup (p.Asn1648IlefsTer2) c.4732_4735dup (p.Asn1579IlefsTer2) c.1435_1438dup (p.Asn480IlefsTer2) c.1480_1483dup (p.Asn495IlefsTer2) c.4936_4939dup (p.Asn1647IlefsTer2) c.1260_1263dup c.1447_1450dup (p.Asn484IlefsTer2) c.*4656_*4659dup (n.*4656_*4659dup) n.26_29dup c.1186_1189dup (p.Asn397IlefsTer2) c.5-7090_5-7087dup (n.5-7090_5-7087dup) c.346_349dup (p.Asn117IlefsTer2) c.-98-20851_-98-20848dup (n.-98-20851_-98-20848dup) n.5009_5012dup n.5050_5053dup | |
| 17 | g.43071039A= | CA2260772862 | BRCA1 | c.4872T= (p.Tyr1624=) c.4875T= (p.Tyr1625=) c.4749T= (p.Tyr1583=) c.4869T= (p.Tyr1623=) c.4797T= (p.Tyr1599=) c.1563T= (p.Tyr521=) c.1425T= (p.Tyr475=) c.3987T= (p.Tyr1329=) c.4752T= (p.Tyr1584=) c.4941T= (p.Tyr1647=) c.4734T= (p.Tyr1578=) c.1437T= (p.Tyr479=) c.1482T= (p.Tyr494=) c.4938T= (p.Tyr1646=) c.1262T= c.1449T= (p.Tyr483=) c.*4658T= (n.*4658T=) n.28T= c.1188T= (p.Tyr396=) c.5-7088T= (n.5-7088T=) c.348T= (p.Tyr116=) c.-98-20849T= (n.-98-20849T=) n.5011T= n.5052T= |