| 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.43071066_43071081delinsAGCAGCTGGACTCTGG | CA2260772881 | BRCA1 | c.4830_4845delinsCCAGAGTCCAGCTGCT (p.Ala1610=) c.4833_4848delinsCCAGAGTCCAGCTGCT (p.Ala1611=) c.4707_4722delinsCCAGAGTCCAGCTGCT (p.Ala1569=) c.4827_4842delinsCCAGAGTCCAGCTGCT (p.Ala1609=) c.4755_4770delinsCCAGAGTCCAGCTGCT (p.Ala1585=) c.1521_1536delinsCCAGAGTCCAGCTGCT (p.Ala507=) c.1383_1398delinsCCAGAGTCCAGCTGCT (p.Ala461=) c.3945_3960delinsCCAGAGTCCAGCTGCT (p.Ala1315=) c.4710_4725delinsCCAGAGTCCAGCTGCT (p.Ala1570=) c.4899_4914delinsCCAGAGTCCAGCTGCT (p.Ala1633=) c.4692_4707delinsCCAGAGTCCAGCTGCT (p.Ala1564=) c.1395_1410delinsCCAGAGTCCAGCTGCT (p.Ala465=) c.1440_1455delinsCCAGAGTCCAGCTGCT (p.Ala480=) c.4896_4911delinsCCAGAGTCCAGCTGCT (p.Ala1632=) c.1220_1235delinsCCAGAGTCCAGCTGCT c.1407_1422delinsCCAGAGTCCAGCTGCT (p.Ala469=) c.*4616_*4631delinsCCAGAGTCCAGCTGCT (n.*4616_*4631delinsCCAGAGTCCAGCTGCT) c.1146_1161delinsCCAGAGTCCAGCTGCT (p.Ala382=) c.5-7130_5-7115delinsCCAGAGTCCAGCTGCT (n.5-7130_5-7115delinsCCAGAGTCCAGCTGCT) c.306_321delinsCCAGAGTCCAGCTGCT (p.Ala102=) c.-98-20891_-98-20876delinsCCAGAGTCCAGCTGCT (n.-98-20891_-98-20876delinsCCAGAGTCCAGCTGCT) n.4969_4984delinsCCAGAGTCCAGCTGCT n.5010_5025delinsCCAGAGTCCAGCTGCT | |
| 17 | g.43071071_43071085del | CA658825004 | BRCA1 | c.4830_4844del (p.Gln1611_Ala1615del) c.4833_4847del (p.Gln1612_Ala1616del) c.4707_4721del (p.Gln1570_Ala1574del) c.4827_4841del (p.Gln1610_Ala1614del) c.4755_4769del (p.Gln1586_Ala1590del) c.1521_1535del (p.Gln508_Ala512del) c.1383_1397del (p.Gln462_Ala466del) c.3945_3959del (p.Gln1316_Ala1320del) c.4710_4724del (p.Gln1571_Ala1575del) c.4899_4913del (p.Gln1634_Ala1638del) c.4692_4706del (p.Gln1565_Ala1569del) c.1395_1409del (p.Gln466_Ala470del) c.1440_1454del (p.Gln481_Ala485del) c.4896_4910del (p.Gln1633_Ala1637del) c.1220_1234del c.1407_1421del (p.Gln470_Ala474del) c.*4616_*4630del (n.*4616_*4630del) c.1146_1160del (p.Gln383_Ala387del) c.5-7130_5-7116del (n.5-7130_5-7116del) c.306_320del (p.Gln103_Ala107del) c.-98-20891_-98-20877del (n.-98-20891_-98-20877del) n.4969_4983del n.5010_5024del | ClinVar dbSNP |
| 17 | g.43071075_43071077delinsACT | CA2260772891 | BRCA1 | c.4834_4836delinsAGT (p.Ser1612=) c.4837_4839delinsAGT (p.Ser1613=) c.4711_4713delinsAGT (p.Ser1571=) c.4831_4833delinsAGT (p.Ser1611=) c.4759_4761delinsAGT (p.Ser1587=) c.1525_1527delinsAGT (p.Ser509=) c.1387_1389delinsAGT (p.Ser463=) c.3949_3951delinsAGT (p.Ser1317=) c.4714_4716delinsAGT (p.Ser1572=) c.4903_4905delinsAGT (p.Ser1635=) c.4696_4698delinsAGT (p.Ser1566=) c.1399_1401delinsAGT (p.Ser467=) c.1444_1446delinsAGT (p.Ser482=) c.4900_4902delinsAGT (p.Ser1634=) c.1224_1226delinsAGT c.1411_1413delinsAGT (p.Ser471=) c.*4620_*4622delinsAGT (n.*4620_*4622delinsAGT) c.1150_1152delinsAGT (p.Ser384=) c.5-7126_5-7124delinsAGT (n.5-7126_5-7124delinsAGT) c.310_312delinsAGT (p.Ser104=) c.-98-20887_-98-20885delinsAGT (n.-98-20887_-98-20885delinsAGT) n.4973_4975delinsAGT n.5014_5016delinsAGT | |
| 17 | g.43071076_43071077delinsCT | CA2260772892 | BRCA1 | c.4834_4835delinsAG (p.Ser1612=) c.4837_4838delinsAG (p.Ser1613=) c.4711_4712delinsAG (p.Ser1571=) c.4831_4832delinsAG (p.Ser1611=) c.4759_4760delinsAG (p.Ser1587=) c.1525_1526delinsAG (p.Ser509=) c.1387_1388delinsAG (p.Ser463=) c.3949_3950delinsAG (p.Ser1317=) c.4714_4715delinsAG (p.Ser1572=) c.4903_4904delinsAG (p.Ser1635=) c.4696_4697delinsAG (p.Ser1566=) c.1399_1400delinsAG (p.Ser467=) c.1444_1445delinsAG (p.Ser482=) c.4900_4901delinsAG (p.Ser1634=) c.1224_1225delinsAG c.1411_1412delinsAG (p.Ser471=) c.*4620_*4621delinsAG (n.*4620_*4621delinsAG) c.1150_1151delinsAG (p.Ser384=) c.5-7126_5-7125delinsAG (n.5-7126_5-7125delinsAG) c.310_311delinsAG (p.Ser104=) c.-98-20887_-98-20886delinsAG (n.-98-20887_-98-20886delinsAG) n.4973_4974delinsAG n.5014_5015delinsAG | |
| 17 | g.43071076_43071077delinsTC | CA913188824 | BRCA1 | c.4834_4835delinsGA (p.Ser1612Asp) c.4837_4838delinsGA (p.Ser1613Asp) c.4711_4712delinsGA (p.Ser1571Asp) c.4831_4832delinsGA (p.Ser1611Asp) c.4759_4760delinsGA (p.Ser1587Asp) c.1525_1526delinsGA (p.Ser509Asp) c.1387_1388delinsGA (p.Ser463Asp) c.3949_3950delinsGA (p.Ser1317Asp) c.4714_4715delinsGA (p.Ser1572Asp) c.4903_4904delinsGA (p.Ser1635Asp) c.4696_4697delinsGA (p.Ser1566Asp) c.1399_1400delinsGA (p.Ser467Asp) c.1444_1445delinsGA (p.Ser482Asp) c.4900_4901delinsGA (p.Ser1634Asp) c.1224_1225delinsGA c.1411_1412delinsGA (p.Ser471Asp) c.*4620_*4621delinsGA (n.*4620_*4621delinsGA) c.1150_1151delinsGA (p.Ser384Asp) c.5-7126_5-7125delinsGA (n.5-7126_5-7125delinsGA) c.310_311delinsGA (p.Ser104Asp) c.-98-20887_-98-20886delinsGA (n.-98-20887_-98-20886delinsGA) n.4973_4974delinsGA n.5014_5015delinsGA | ClinVar dbSNP |
| 17 | g.43071076_43071077delinsGGC | CA003043 | BRCA1 | c.4834_4835delinsGCC (p.Ser1612AlafsTer9) c.4837_4838delinsGCC (p.Ser1613AlafsTer9) c.4711_4712delinsGCC (p.Ser1571AlafsTer9) c.4831_4832delinsGCC (p.Ser1611AlafsTer9) c.4759_4760delinsGCC (p.Ser1587AlafsTer9) c.1525_1526delinsGCC (p.Ser509AlafsTer9) c.1387_1388delinsGCC (p.Ser463AlafsTer9) c.3949_3950delinsGCC (p.Ser1317AlafsTer9) c.4714_4715delinsGCC (p.Ser1572AlafsTer9) c.4903_4904delinsGCC (p.Ser1635AlafsTer9) c.4696_4697delinsGCC (p.Ser1566AlafsTer9) c.1399_1400delinsGCC (p.Ser467AlafsTer9) c.1444_1445delinsGCC (p.Ser482AlafsTer9) c.4900_4901delinsGCC (p.Ser1634AlafsTer9) c.1224_1225delinsGCC c.1411_1412delinsGCC (p.Ser471AlafsTer9) c.*4620_*4621delinsGCC (n.*4620_*4621delinsGCC) c.1150_1151delinsGCC (p.Ser384AlafsTer9) c.5-7126_5-7125delinsGCC (n.5-7126_5-7125delinsGCC) c.310_311delinsGCC (p.Ser104AlafsTer9) c.-98-20887_-98-20886delinsGCC (n.-98-20887_-98-20886delinsGCC) n.4973_4974delinsGCC n.5014_5015delinsGCC | ClinVar dbSNP |
| 17 | g.43071077del | CA003046 | BRCA1 | c.4834del (p.Ser1612ValfsTer20) c.4837del (p.Ser1613ValfsTer20) c.4711del (p.Ser1571ValfsTer20) c.4831del (p.Ser1611ValfsTer20) c.4759del (p.Ser1587ValfsTer20) c.1525del (p.Ser509ValfsTer20) c.1387del (p.Ser463ValfsTer20) c.3949del (p.Ser1317ValfsTer20) c.4714del (p.Ser1572ValfsTer20) c.4903del (p.Ser1635ValfsTer20) c.4696del (p.Ser1566ValfsTer20) c.1399del (p.Ser467ValfsTer20) c.1444del (p.Ser482ValfsTer20) c.4900del (p.Ser1634ValfsTer20) c.1224del c.1411del (p.Ser471ValfsTer20) c.*4620del (n.*4620del) c.1150del (p.Ser384ValfsTer20) c.5-7126del (n.5-7126del) c.310del (p.Ser104ValfsTer20) c.-98-20887del (n.-98-20887del) n.4973del n.5014del | ClinVar dbSNP gnomAD v4 |
| 17 | g.43071077T>A | CA003045 | BRCA1 | c.4834A>T (p.Ser1612Cys) c.4837A>T (p.Ser1613Cys) c.4711A>T (p.Ser1571Cys) c.4831A>T (p.Ser1611Cys) c.4759A>T (p.Ser1587Cys) c.1525A>T (p.Ser509Cys) c.1387A>T (p.Ser463Cys) c.3949A>T (p.Ser1317Cys) c.4714A>T (p.Ser1572Cys) c.4903A>T (p.Ser1635Cys) c.4696A>T (p.Ser1566Cys) c.1399A>T (p.Ser467Cys) c.1444A>T (p.Ser482Cys) c.4900A>T (p.Ser1634Cys) c.1224A>T c.1411A>T (p.Ser471Cys) c.*4620A>T (n.*4620A>T) c.1150A>T (p.Ser384Cys) c.5-7126A>T (n.5-7126A>T) c.310A>T (p.Ser104Cys) c.-98-20887A>T (n.-98-20887A>T) n.4973A>T n.5014A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.43071077T>C | CA003044 | BRCA1 | c.4834A>G (p.Ser1612Gly) c.4837A>G (p.Ser1613Gly) c.4711A>G (p.Ser1571Gly) c.4831A>G (p.Ser1611Gly) c.4759A>G (p.Ser1587Gly) c.1525A>G (p.Ser509Gly) c.1387A>G (p.Ser463Gly) c.3949A>G (p.Ser1317Gly) c.4714A>G (p.Ser1572Gly) c.4903A>G (p.Ser1635Gly) c.4696A>G (p.Ser1566Gly) c.1399A>G (p.Ser467Gly) c.1444A>G (p.Ser482Gly) c.4900A>G (p.Ser1634Gly) c.1224A>G c.1411A>G (p.Ser471Gly) c.*4620A>G (n.*4620A>G) c.1150A>G (p.Ser384Gly) c.5-7126A>G (n.5-7126A>G) c.310A>G (p.Ser104Gly) c.-98-20887A>G (n.-98-20887A>G) n.4973A>G n.5014A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.43071077T>G | CA10591849 | BRCA1 | c.4834A>C (p.Ser1612Arg) c.4837A>C (p.Ser1613Arg) c.4711A>C (p.Ser1571Arg) c.4831A>C (p.Ser1611Arg) c.4759A>C (p.Ser1587Arg) c.1525A>C (p.Ser509Arg) c.1387A>C (p.Ser463Arg) c.3949A>C (p.Ser1317Arg) c.4714A>C (p.Ser1572Arg) c.4903A>C (p.Ser1635Arg) c.4696A>C (p.Ser1566Arg) c.1399A>C (p.Ser467Arg) c.1444A>C (p.Ser482Arg) c.4900A>C (p.Ser1634Arg) c.1224A>C c.1411A>C (p.Ser471Arg) c.*4620A>C (n.*4620A>C) c.1150A>C (p.Ser384Arg) c.5-7126A>C (n.5-7126A>C) c.310A>C (p.Ser104Arg) c.-98-20887A>C (n.-98-20887A>C) n.4973A>C n.5014A>C | ClinVar dbSNP |
| 17 | g.43071077T= | CA2260772894 | BRCA1 | c.4834A= (p.Ser1612=) c.4837A= (p.Ser1613=) c.4711A= (p.Ser1571=) c.4831A= (p.Ser1611=) c.4759A= (p.Ser1587=) c.1525A= (p.Ser509=) c.1387A= (p.Ser463=) c.3949A= (p.Ser1317=) c.4714A= (p.Ser1572=) c.4903A= (p.Ser1635=) c.4696A= (p.Ser1566=) c.1399A= (p.Ser467=) c.1444A= (p.Ser482=) c.4900A= (p.Ser1634=) c.1224A= c.1411A= (p.Ser471=) c.*4620A= (n.*4620A=) c.1150A= (p.Ser384=) c.5-7126A= (n.5-7126A=) c.310A= (p.Ser104=) c.-98-20887A= (n.-98-20887A=) n.4973A= n.5014A= | |
| 17 | g.43071078C>A | CA053308 | BRCA1 | c.4833G>T (p.Gln1611His) c.4836G>T (p.Gln1612His) c.4710G>T (p.Gln1570His) c.4830G>T (p.Gln1610His) c.4758G>T (p.Gln1586His) c.1524G>T (p.Gln508His) c.1386G>T (p.Gln462His) c.3948G>T (p.Gln1316His) c.4713G>T (p.Gln1571His) c.4902G>T (p.Gln1634His) c.4695G>T (p.Gln1565His) c.1398G>T (p.Gln466His) c.1443G>T (p.Gln481His) c.4899G>T (p.Gln1633His) c.1223G>T c.1410G>T (p.Gln470His) c.*4619G>T (n.*4619G>T) c.1149G>T (p.Gln383His) c.5-7127G>T (n.5-7127G>T) c.309G>T (p.Gln103His) c.-98-20888G>T (n.-98-20888G>T) n.4972G>T n.5013G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.43071078C= | CA2260772896 | BRCA1 | c.4833G= (p.Gln1611=) c.4836G= (p.Gln1612=) c.4710G= (p.Gln1570=) c.4830G= (p.Gln1610=) c.4758G= (p.Gln1586=) c.1524G= (p.Gln508=) c.1386G= (p.Gln462=) c.3948G= (p.Gln1316=) c.4713G= (p.Gln1571=) c.4902G= (p.Gln1634=) c.4695G= (p.Gln1565=) c.1398G= (p.Gln466=) c.1443G= (p.Gln481=) c.4899G= (p.Gln1633=) c.1223G= c.1410G= (p.Gln470=) c.*4619G= (n.*4619G=) c.1149G= (p.Gln383=) c.5-7127G= (n.5-7127G=) c.309G= (p.Gln103=) c.-98-20888G= (n.-98-20888G=) n.4972G= n.5013G= | |
| 17 | g.43071078C>G | CA003042 | BRCA1 | c.4833G>C (p.Gln1611His) c.4836G>C (p.Gln1612His) c.4710G>C (p.Gln1570His) c.4830G>C (p.Gln1610His) c.4758G>C (p.Gln1586His) c.1524G>C (p.Gln508His) c.1386G>C (p.Gln462His) c.3948G>C (p.Gln1316His) c.4713G>C (p.Gln1571His) c.4902G>C (p.Gln1634His) c.4695G>C (p.Gln1565His) c.1398G>C (p.Gln466His) c.1443G>C (p.Gln481His) c.4899G>C (p.Gln1633His) c.1223G>C c.1410G>C (p.Gln470His) c.*4619G>C (n.*4619G>C) c.1149G>C (p.Gln383His) c.5-7127G>C (n.5-7127G>C) c.309G>C (p.Gln103His) c.-98-20888G>C (n.-98-20888G>C) n.4972G>C n.5013G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.43071078C>T | CA500231808 | BRCA1 | c.4833G>A (p.Gln1611=) c.4836G>A (p.Gln1612=) c.4710G>A (p.Gln1570=) c.4830G>A (p.Gln1610=) c.4758G>A (p.Gln1586=) c.1524G>A (p.Gln508=) c.1386G>A (p.Gln462=) c.3948G>A (p.Gln1316=) c.4713G>A (p.Gln1571=) c.4902G>A (p.Gln1634=) c.4695G>A (p.Gln1565=) c.1398G>A (p.Gln466=) c.1443G>A (p.Gln481=) c.4899G>A (p.Gln1633=) c.1223G>A c.1410G>A (p.Gln470=) c.*4619G>A (n.*4619G>A) c.1149G>A (p.Gln383=) c.5-7127G>A (n.5-7127G>A) c.309G>A (p.Gln103=) c.-98-20888G>A (n.-98-20888G>A) n.4972G>A n.5013G>A | ClinVar dbSNP |
| 17 | g.43071078dup | CA327949 | BRCA1 | c.4833dup (p.Ser1612GlufsTer9) c.4836dup (p.Ser1613GlufsTer9) c.4710dup (p.Ser1571GlufsTer9) c.4830dup (p.Ser1611GlufsTer9) c.4758dup (p.Ser1587GlufsTer9) c.1524dup (p.Ser509GlufsTer9) c.1386dup (p.Ser463GlufsTer9) c.3948dup (p.Ser1317GlufsTer9) c.4713dup (p.Ser1572GlufsTer9) c.4902dup (p.Ser1635GlufsTer9) c.4695dup (p.Ser1566GlufsTer9) c.1398dup (p.Ser467GlufsTer9) c.1443dup (p.Ser482GlufsTer9) c.4899dup (p.Ser1634GlufsTer9) c.1223dup c.1410dup (p.Ser471GlufsTer9) c.*4619dup (n.*4619dup) c.1149dup (p.Ser384GlufsTer9) c.5-7127dup (n.5-7127dup) c.309dup (p.Ser104GlufsTer9) c.-98-20888dup (n.-98-20888dup) n.4972dup n.5013dup | ClinVar dbSNP |
| 17 | g.43071078_43071080delinsCTG | CA2260772895 | BRCA1 | c.4831_4833delinsCAG (p.Gln1611=) c.4834_4836delinsCAG (p.Gln1612=) c.4708_4710delinsCAG (p.Gln1570=) c.4828_4830delinsCAG (p.Gln1610=) c.4756_4758delinsCAG (p.Gln1586=) c.1522_1524delinsCAG (p.Gln508=) c.1384_1386delinsCAG (p.Gln462=) c.3946_3948delinsCAG (p.Gln1316=) c.4711_4713delinsCAG (p.Gln1571=) c.4900_4902delinsCAG (p.Gln1634=) c.4693_4695delinsCAG (p.Gln1565=) c.1396_1398delinsCAG (p.Gln466=) c.1441_1443delinsCAG (p.Gln481=) c.4897_4899delinsCAG (p.Gln1633=) c.1221_1223delinsCAG c.1408_1410delinsCAG (p.Gln470=) c.*4617_*4619delinsCAG (n.*4617_*4619delinsCAG) c.1147_1149delinsCAG (p.Gln383=) c.5-7129_5-7127delinsCAG (n.5-7129_5-7127delinsCAG) c.307_309delinsCAG (p.Gln103=) c.-98-20890_-98-20888delinsCAG (n.-98-20890_-98-20888delinsCAG) n.4970_4972delinsCAG n.5011_5013delinsCAG | |
| 17 | g.43071079T>A | CA10591850 | BRCA1 | c.4832A>T (p.Gln1611Leu) c.4835A>T (p.Gln1612Leu) c.4709A>T (p.Gln1570Leu) c.4829A>T (p.Gln1610Leu) c.4757A>T (p.Gln1586Leu) c.1523A>T (p.Gln508Leu) c.1385A>T (p.Gln462Leu) c.3947A>T (p.Gln1316Leu) c.4712A>T (p.Gln1571Leu) c.4901A>T (p.Gln1634Leu) c.4694A>T (p.Gln1565Leu) c.1397A>T (p.Gln466Leu) c.1442A>T (p.Gln481Leu) c.4898A>T (p.Gln1633Leu) c.1222A>T c.1409A>T (p.Gln470Leu) c.*4618A>T (n.*4618A>T) c.1148A>T (p.Gln383Leu) c.5-7128A>T (n.5-7128A>T) c.308A>T (p.Gln103Leu) c.-98-20889A>T (n.-98-20889A>T) n.4971A>T n.5012A>T | ClinVar dbSNP |
| 17 | g.43071079T>C | CA10591851 | BRCA1 | c.4832A>G (p.Gln1611Arg) c.4835A>G (p.Gln1612Arg) c.4709A>G (p.Gln1570Arg) c.4829A>G (p.Gln1610Arg) c.4757A>G (p.Gln1586Arg) c.1523A>G (p.Gln508Arg) c.1385A>G (p.Gln462Arg) c.3947A>G (p.Gln1316Arg) c.4712A>G (p.Gln1571Arg) c.4901A>G (p.Gln1634Arg) c.4694A>G (p.Gln1565Arg) c.1397A>G (p.Gln466Arg) c.1442A>G (p.Gln481Arg) c.4898A>G (p.Gln1633Arg) c.1222A>G c.1409A>G (p.Gln470Arg) c.*4618A>G (n.*4618A>G) c.1148A>G (p.Gln383Arg) c.5-7128A>G (n.5-7128A>G) c.308A>G (p.Gln103Arg) c.-98-20889A>G (n.-98-20889A>G) n.4971A>G n.5012A>G | ClinVar |
| 17 | g.43071079T>G | CA10591852 | BRCA1 | c.4832A>C (p.Gln1611Pro) c.4835A>C (p.Gln1612Pro) c.4709A>C (p.Gln1570Pro) c.4829A>C (p.Gln1610Pro) c.4757A>C (p.Gln1586Pro) c.1523A>C (p.Gln508Pro) c.1385A>C (p.Gln462Pro) c.3947A>C (p.Gln1316Pro) c.4712A>C (p.Gln1571Pro) c.4901A>C (p.Gln1634Pro) c.4694A>C (p.Gln1565Pro) c.1397A>C (p.Gln466Pro) c.1442A>C (p.Gln481Pro) c.4898A>C (p.Gln1633Pro) c.1222A>C c.1409A>C (p.Gln470Pro) c.*4618A>C (n.*4618A>C) c.1148A>C (p.Gln383Pro) c.5-7128A>C (n.5-7128A>C) c.308A>C (p.Gln103Pro) c.-98-20889A>C (n.-98-20889A>C) n.4971A>C n.5012A>C | |
| 17 | g.43071079T= | CA2260772898 | BRCA1 | c.4832A= (p.Gln1611=) c.4835A= (p.Gln1612=) c.4709A= (p.Gln1570=) c.4829A= (p.Gln1610=) c.4757A= (p.Gln1586=) c.1523A= (p.Gln508=) c.1385A= (p.Gln462=) c.3947A= (p.Gln1316=) c.4712A= (p.Gln1571=) c.4901A= (p.Gln1634=) c.4694A= (p.Gln1565=) c.1397A= (p.Gln466=) c.1442A= (p.Gln481=) c.4898A= (p.Gln1633=) c.1222A= c.1409A= (p.Gln470=) c.*4618A= (n.*4618A=) c.1148A= (p.Gln383=) c.5-7128A= (n.5-7128A=) c.308A= (p.Gln103=) c.-98-20889A= (n.-98-20889A=) n.4971A= n.5012A= | |
| 17 | g.43071079_43071080del | CA658653684 | BRCA1 | c.4831_4832del (p.Gln1611GlufsTer9) c.4834_4835del (p.Gln1612GlufsTer9) c.4708_4709del (p.Gln1570GlufsTer9) c.4828_4829del (p.Gln1610GlufsTer9) c.4756_4757del (p.Gln1586GlufsTer9) c.1522_1523del (p.Gln508GlufsTer9) c.1384_1385del (p.Gln462GlufsTer9) c.3946_3947del (p.Gln1316GlufsTer9) c.4711_4712del (p.Gln1571GlufsTer9) c.4900_4901del (p.Gln1634GlufsTer9) c.4693_4694del (p.Gln1565GlufsTer9) c.1396_1397del (p.Gln466GlufsTer9) c.1441_1442del (p.Gln481GlufsTer9) c.4897_4898del (p.Gln1633GlufsTer9) c.1221_1222del c.1408_1409del (p.Gln470GlufsTer9) c.*4617_*4618del (n.*4617_*4618del) c.1147_1148del (p.Gln383GlufsTer9) c.5-7129_5-7128del (n.5-7129_5-7128del) c.307_308del (p.Gln103GlufsTer9) c.-98-20890_-98-20889del (n.-98-20890_-98-20889del) n.4970_4971del n.5011_5012del | ClinVar dbSNP |
| 17 | g.43071079_43071080delinsTG | CA2260772897 | BRCA1 | c.4831_4832delinsCA (p.Gln1611=) c.4834_4835delinsCA (p.Gln1612=) c.4708_4709delinsCA (p.Gln1570=) c.4828_4829delinsCA (p.Gln1610=) c.4756_4757delinsCA (p.Gln1586=) c.1522_1523delinsCA (p.Gln508=) c.1384_1385delinsCA (p.Gln462=) c.3946_3947delinsCA (p.Gln1316=) c.4711_4712delinsCA (p.Gln1571=) c.4900_4901delinsCA (p.Gln1634=) c.4693_4694delinsCA (p.Gln1565=) c.1396_1397delinsCA (p.Gln466=) c.1441_1442delinsCA (p.Gln481=) c.4897_4898delinsCA (p.Gln1633=) c.1221_1222delinsCA c.1408_1409delinsCA (p.Gln470=) c.*4617_*4618delinsCA (n.*4617_*4618delinsCA) c.1147_1148delinsCA (p.Gln383=) c.5-7129_5-7128delinsCA (n.5-7129_5-7128delinsCA) c.307_308delinsCA (p.Gln103=) c.-98-20890_-98-20889delinsCA (n.-98-20890_-98-20889delinsCA) n.4970_4971delinsCA n.5011_5012delinsCA | |
| 17 | g.43071080G>A | CA003041 | BRCA1 | c.4831C>T (p.Gln1611Ter) c.4834C>T (p.Gln1612Ter) c.4708C>T (p.Gln1570Ter) c.4828C>T (p.Gln1610Ter) c.4756C>T (p.Gln1586Ter) c.1522C>T (p.Gln508Ter) c.1384C>T (p.Gln462Ter) c.3946C>T (p.Gln1316Ter) c.4711C>T (p.Gln1571Ter) c.4900C>T (p.Gln1634Ter) c.4693C>T (p.Gln1565Ter) c.1396C>T (p.Gln466Ter) c.1441C>T (p.Gln481Ter) c.4897C>T (p.Gln1633Ter) c.1221C>T c.1408C>T (p.Gln470Ter) c.*4617C>T (n.*4617C>T) c.1147C>T (p.Gln383Ter) c.5-7129C>T (n.5-7129C>T) c.307C>T (p.Gln103Ter) c.-98-20890C>T (n.-98-20890C>T) n.4970C>T n.5011C>T | ClinVar dbSNP |
| 17 | g.43071080G>C | CA10591853 | BRCA1 | c.4831C>G (p.Gln1611Glu) c.4834C>G (p.Gln1612Glu) c.4708C>G (p.Gln1570Glu) c.4828C>G (p.Gln1610Glu) c.4756C>G (p.Gln1586Glu) c.1522C>G (p.Gln508Glu) c.1384C>G (p.Gln462Glu) c.3946C>G (p.Gln1316Glu) c.4711C>G (p.Gln1571Glu) c.4900C>G (p.Gln1634Glu) c.4693C>G (p.Gln1565Glu) c.1396C>G (p.Gln466Glu) c.1441C>G (p.Gln481Glu) c.4897C>G (p.Gln1633Glu) c.1221C>G c.1408C>G (p.Gln470Glu) c.*4617C>G (n.*4617C>G) c.1147C>G (p.Gln383Glu) c.5-7129C>G (n.5-7129C>G) c.307C>G (p.Gln103Glu) c.-98-20890C>G (n.-98-20890C>G) n.4970C>G n.5011C>G | dbSNP |
| 17 | g.43071080G= | CA2260772899 | BRCA1 | c.4831C= (p.Gln1611=) c.4834C= (p.Gln1612=) c.4708C= (p.Gln1570=) c.4828C= (p.Gln1610=) c.4756C= (p.Gln1586=) c.1522C= (p.Gln508=) c.1384C= (p.Gln462=) c.3946C= (p.Gln1316=) c.4711C= (p.Gln1571=) c.4900C= (p.Gln1634=) c.4693C= (p.Gln1565=) c.1396C= (p.Gln466=) c.1441C= (p.Gln481=) c.4897C= (p.Gln1633=) c.1221C= c.1408C= (p.Gln470=) c.*4617C= (n.*4617C=) c.1147C= (p.Gln383=) c.5-7129C= (n.5-7129C=) c.307C= (p.Gln103=) c.-98-20890C= (n.-98-20890C=) n.4970C= n.5011C= | |
| 17 | g.43071080G>T | CA10591854 | BRCA1 | c.4831C>A (p.Gln1611Lys) c.4834C>A (p.Gln1612Lys) c.4708C>A (p.Gln1570Lys) c.4828C>A (p.Gln1610Lys) c.4756C>A (p.Gln1586Lys) c.1522C>A (p.Gln508Lys) c.1384C>A (p.Gln462Lys) c.3946C>A (p.Gln1316Lys) c.4711C>A (p.Gln1571Lys) c.4900C>A (p.Gln1634Lys) c.4693C>A (p.Gln1565Lys) c.1396C>A (p.Gln466Lys) c.1441C>A (p.Gln481Lys) c.4897C>A (p.Gln1633Lys) c.1221C>A c.1408C>A (p.Gln470Lys) c.*4617C>A (n.*4617C>A) c.1147C>A (p.Gln383Lys) c.5-7129C>A (n.5-7129C>A) c.307C>A (p.Gln103Lys) c.-98-20890C>A (n.-98-20890C>A) n.4970C>A n.5011C>A | dbSNP |
| 17 | g.43071082del | CA10589643 | BRCA1 | c.4831del (p.Gln1611ArgfsTer21) c.4834del (p.Gln1612ArgfsTer21) c.4708del (p.Gln1570ArgfsTer21) c.4828del (p.Gln1610ArgfsTer21) c.4756del (p.Gln1586ArgfsTer21) c.1522del (p.Gln508ArgfsTer21) c.1384del (p.Gln462ArgfsTer21) c.3946del (p.Gln1316ArgfsTer21) c.4711del (p.Gln1571ArgfsTer21) c.4900del (p.Gln1634ArgfsTer21) c.4693del (p.Gln1565ArgfsTer21) c.1396del (p.Gln466ArgfsTer21) c.1441del (p.Gln481ArgfsTer21) c.4897del (p.Gln1633ArgfsTer21) c.1221del c.1408del (p.Gln470ArgfsTer21) c.*4617del (n.*4617del) c.1147del (p.Gln383ArgfsTer21) c.5-7129del (n.5-7129del) c.307del (p.Gln103ArgfsTer21) c.-98-20890del (n.-98-20890del) n.4970del n.5011del | ClinVar dbSNP |
| 17 | g.43071081G>A | CA003040 | BRCA1 | c.4830C>T (p.Ala1610=) c.4833C>T (p.Ala1611=) c.4707C>T (p.Ala1569=) c.4827C>T (p.Ala1609=) c.4755C>T (p.Ala1585=) c.1521C>T (p.Ala507=) c.1383C>T (p.Ala461=) c.3945C>T (p.Ala1315=) c.4710C>T (p.Ala1570=) c.4899C>T (p.Ala1633=) c.4692C>T (p.Ala1564=) c.1395C>T (p.Ala465=) c.1440C>T (p.Ala480=) c.4896C>T (p.Ala1632=) c.1220C>T c.1407C>T (p.Ala469=) c.*4616C>T (n.*4616C>T) c.1146C>T (p.Ala382=) c.5-7130C>T (n.5-7130C>T) c.306C>T (p.Ala102=) c.-98-20891C>T (n.-98-20891C>T) n.4969C>T n.5010C>T | ClinVar dbSNP |
| 17 | g.43071081G>C | CA500231809 | BRCA1 | c.4830C>G (p.Ala1610=) c.4833C>G (p.Ala1611=) c.4707C>G (p.Ala1569=) c.4827C>G (p.Ala1609=) c.4755C>G (p.Ala1585=) c.1521C>G (p.Ala507=) c.1383C>G (p.Ala461=) c.3945C>G (p.Ala1315=) c.4710C>G (p.Ala1570=) c.4899C>G (p.Ala1633=) c.4692C>G (p.Ala1564=) c.1395C>G (p.Ala465=) c.1440C>G (p.Ala480=) c.4896C>G (p.Ala1632=) c.1220C>G c.1407C>G (p.Ala469=) c.*4616C>G (n.*4616C>G) c.1146C>G (p.Ala382=) c.5-7130C>G (n.5-7130C>G) c.306C>G (p.Ala102=) c.-98-20891C>G (n.-98-20891C>G) n.4969C>G n.5010C>G | dbSNP |
| 17 | g.43071081G= | CA2260772900 | BRCA1 | c.4830C= (p.Ala1610=) c.4833C= (p.Ala1611=) c.4707C= (p.Ala1569=) c.4827C= (p.Ala1609=) c.4755C= (p.Ala1585=) c.1521C= (p.Ala507=) c.1383C= (p.Ala461=) c.3945C= (p.Ala1315=) c.4710C= (p.Ala1570=) c.4899C= (p.Ala1633=) c.4692C= (p.Ala1564=) c.1395C= (p.Ala465=) c.1440C= (p.Ala480=) c.4896C= (p.Ala1632=) c.1220C= c.1407C= (p.Ala469=) c.*4616C= (n.*4616C=) c.1146C= (p.Ala382=) c.5-7130C= (n.5-7130C=) c.306C= (p.Ala102=) c.-98-20891C= (n.-98-20891C=) n.4969C= n.5010C= | |
| 17 | g.43071081G>T | CA500231810 | BRCA1 | c.4830C>A (p.Ala1610=) c.4833C>A (p.Ala1611=) c.4707C>A (p.Ala1569=) c.4827C>A (p.Ala1609=) c.4755C>A (p.Ala1585=) c.1521C>A (p.Ala507=) c.1383C>A (p.Ala461=) c.3945C>A (p.Ala1315=) c.4710C>A (p.Ala1570=) c.4899C>A (p.Ala1633=) c.4692C>A (p.Ala1564=) c.1395C>A (p.Ala465=) c.1440C>A (p.Ala480=) c.4896C>A (p.Ala1632=) c.1220C>A c.1407C>A (p.Ala469=) c.*4616C>A (n.*4616C>A) c.1146C>A (p.Ala382=) c.5-7130C>A (n.5-7130C>A) c.306C>A (p.Ala102=) c.-98-20891C>A (n.-98-20891C>A) n.4969C>A n.5010C>A | dbSNP |
| 17 | g.43071082G>A | CA10591855 | BRCA1 | c.4829C>T (p.Ala1610Val) c.4832C>T (p.Ala1611Val) c.4706C>T (p.Ala1569Val) c.4826C>T (p.Ala1609Val) c.4754C>T (p.Ala1585Val) c.1520C>T (p.Ala507Val) c.1382C>T (p.Ala461Val) c.3944C>T (p.Ala1315Val) c.4709C>T (p.Ala1570Val) c.4898C>T (p.Ala1633Val) c.4691C>T (p.Ala1564Val) c.1394C>T (p.Ala465Val) c.1439C>T (p.Ala480Val) c.4895C>T (p.Ala1632Val) c.1219C>T c.1406C>T (p.Ala469Val) c.*4615C>T (n.*4615C>T) c.1145C>T (p.Ala382Val) c.5-7131C>T (n.5-7131C>T) c.305C>T (p.Ala102Val) c.-98-20892C>T (n.-98-20892C>T) n.4968C>T n.5009C>T | ClinVar dbSNP |
| 17 | g.43071082G>C | CA10591856 | BRCA1 | c.4829C>G (p.Ala1610Gly) c.4832C>G (p.Ala1611Gly) c.4706C>G (p.Ala1569Gly) c.4826C>G (p.Ala1609Gly) c.4754C>G (p.Ala1585Gly) c.1520C>G (p.Ala507Gly) c.1382C>G (p.Ala461Gly) c.3944C>G (p.Ala1315Gly) c.4709C>G (p.Ala1570Gly) c.4898C>G (p.Ala1633Gly) c.4691C>G (p.Ala1564Gly) c.1394C>G (p.Ala465Gly) c.1439C>G (p.Ala480Gly) c.4895C>G (p.Ala1632Gly) c.1219C>G c.1406C>G (p.Ala469Gly) c.*4615C>G (n.*4615C>G) c.1145C>G (p.Ala382Gly) c.5-7131C>G (n.5-7131C>G) c.305C>G (p.Ala102Gly) c.-98-20892C>G (n.-98-20892C>G) n.4968C>G n.5009C>G | dbSNP |
| 17 | g.43071082G>T | CA10591857 | BRCA1 | c.4829C>A (p.Ala1610Asp) c.4832C>A (p.Ala1611Asp) c.4706C>A (p.Ala1569Asp) c.4826C>A (p.Ala1609Asp) c.4754C>A (p.Ala1585Asp) c.1520C>A (p.Ala507Asp) c.1382C>A (p.Ala461Asp) c.3944C>A (p.Ala1315Asp) c.4709C>A (p.Ala1570Asp) c.4898C>A (p.Ala1633Asp) c.4691C>A (p.Ala1564Asp) c.1394C>A (p.Ala465Asp) c.1439C>A (p.Ala480Asp) c.4895C>A (p.Ala1632Asp) c.1219C>A c.1406C>A (p.Ala469Asp) c.*4615C>A (n.*4615C>A) c.1145C>A (p.Ala382Asp) c.5-7131C>A (n.5-7131C>A) c.305C>A (p.Ala102Asp) c.-98-20892C>A (n.-98-20892C>A) n.4968C>A n.5009C>A | dbSNP |
| 17 | g.43071083C>A | CA10591858 | BRCA1 | c.4828G>T (p.Ala1610Ser) c.4831G>T (p.Ala1611Ser) c.4705G>T (p.Ala1569Ser) c.4825G>T (p.Ala1609Ser) c.4753G>T (p.Ala1585Ser) c.1519G>T (p.Ala507Ser) c.1381G>T (p.Ala461Ser) c.3943G>T (p.Ala1315Ser) c.4708G>T (p.Ala1570Ser) c.4897G>T (p.Ala1633Ser) c.4690G>T (p.Ala1564Ser) c.1393G>T (p.Ala465Ser) c.1438G>T (p.Ala480Ser) c.4894G>T (p.Ala1632Ser) c.1218G>T c.1405G>T (p.Ala469Ser) c.*4614G>T (n.*4614G>T) c.1144G>T (p.Ala382Ser) c.5-7132G>T (n.5-7132G>T) c.304G>T (p.Ala102Ser) c.-98-20893G>T (n.-98-20893G>T) n.4967G>T n.5008G>T | ClinVar dbSNP |
| 17 | g.43071083C= | CA2260772901 | BRCA1 | c.4828G= (p.Ala1610=) c.4831G= (p.Ala1611=) c.4705G= (p.Ala1569=) c.4825G= (p.Ala1609=) c.4753G= (p.Ala1585=) c.1519G= (p.Ala507=) c.1381G= (p.Ala461=) c.3943G= (p.Ala1315=) c.4708G= (p.Ala1570=) c.4897G= (p.Ala1633=) c.4690G= (p.Ala1564=) c.1393G= (p.Ala465=) c.1438G= (p.Ala480=) c.4894G= (p.Ala1632=) c.1218G= c.1405G= (p.Ala469=) c.*4614G= (n.*4614G=) c.1144G= (p.Ala382=) c.5-7132G= (n.5-7132G=) c.304G= (p.Ala102=) c.-98-20893G= (n.-98-20893G=) n.4967G= n.5008G= | |
| 17 | g.43071083C>G | CA10591859 | BRCA1 | c.4828G>C (p.Ala1610Pro) c.4831G>C (p.Ala1611Pro) c.4705G>C (p.Ala1569Pro) c.4825G>C (p.Ala1609Pro) c.4753G>C (p.Ala1585Pro) c.1519G>C (p.Ala507Pro) c.1381G>C (p.Ala461Pro) c.3943G>C (p.Ala1315Pro) c.4708G>C (p.Ala1570Pro) c.4897G>C (p.Ala1633Pro) c.4690G>C (p.Ala1564Pro) c.1393G>C (p.Ala465Pro) c.1438G>C (p.Ala480Pro) c.4894G>C (p.Ala1632Pro) c.1218G>C c.1405G>C (p.Ala469Pro) c.*4614G>C (n.*4614G>C) c.1144G>C (p.Ala382Pro) c.5-7132G>C (n.5-7132G>C) c.304G>C (p.Ala102Pro) c.-98-20893G>C (n.-98-20893G>C) n.4967G>C n.5008G>C | dbSNP |
| 17 | g.43071083C>T | CA10591860 | BRCA1 | c.4828G>A (p.Ala1610Thr) c.4831G>A (p.Ala1611Thr) c.4705G>A (p.Ala1569Thr) c.4825G>A (p.Ala1609Thr) c.4753G>A (p.Ala1585Thr) c.1519G>A (p.Ala507Thr) c.1381G>A (p.Ala461Thr) c.3943G>A (p.Ala1315Thr) c.4708G>A (p.Ala1570Thr) c.4897G>A (p.Ala1633Thr) c.4690G>A (p.Ala1564Thr) c.1393G>A (p.Ala465Thr) c.1438G>A (p.Ala480Thr) c.4894G>A (p.Ala1632Thr) c.1218G>A c.1405G>A (p.Ala469Thr) c.*4614G>A (n.*4614G>A) c.1144G>A (p.Ala382Thr) c.5-7132G>A (n.5-7132G>A) c.304G>A (p.Ala102Thr) c.-98-20893G>A (n.-98-20893G>A) n.4967G>A n.5008G>A | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.43071084A= | CA2260772902 | BRCA1 | c.4827T= (p.Ser1609=) c.4830T= (p.Ser1610=) c.4704T= (p.Ser1568=) c.4824T= (p.Ser1608=) c.4752T= (p.Ser1584=) c.1518T= (p.Ser506=) c.1380T= (p.Ser460=) c.3942T= (p.Ser1314=) c.4707T= (p.Ser1569=) c.4896T= (p.Ser1632=) c.4689T= (p.Ser1563=) c.1392T= (p.Ser464=) c.1437T= (p.Ser479=) c.4893T= (p.Ser1631=) c.1217T= c.1404T= (p.Ser468=) c.*4613T= (n.*4613T=) c.1143T= (p.Ser381=) c.5-7133T= (n.5-7133T=) c.303T= (p.Ser101=) c.-98-20894T= (n.-98-20894T=) n.4966T= n.5007T= | |
| 17 | g.43071084A>C | CA500231813 | BRCA1 | c.4827T>G (p.Ser1609=) c.4830T>G (p.Ser1610=) c.4704T>G (p.Ser1568=) c.4824T>G (p.Ser1608=) c.4752T>G (p.Ser1584=) c.1518T>G (p.Ser506=) c.1380T>G (p.Ser460=) c.3942T>G (p.Ser1314=) c.4707T>G (p.Ser1569=) c.4896T>G (p.Ser1632=) c.4689T>G (p.Ser1563=) c.1392T>G (p.Ser464=) c.1437T>G (p.Ser479=) c.4893T>G (p.Ser1631=) c.1217T>G c.1404T>G (p.Ser468=) c.*4613T>G (n.*4613T>G) c.1143T>G (p.Ser381=) c.5-7133T>G (n.5-7133T>G) c.303T>G (p.Ser101=) c.-98-20894T>G (n.-98-20894T>G) n.4966T>G n.5007T>G | ClinVar dbSNP |
| 17 | g.43071084A>G | CA500231811 | BRCA1 | c.4827T>C (p.Ser1609=) c.4830T>C (p.Ser1610=) c.4704T>C (p.Ser1568=) c.4824T>C (p.Ser1608=) c.4752T>C (p.Ser1584=) c.1518T>C (p.Ser506=) c.1380T>C (p.Ser460=) c.3942T>C (p.Ser1314=) c.4707T>C (p.Ser1569=) c.4896T>C (p.Ser1632=) c.4689T>C (p.Ser1563=) c.1392T>C (p.Ser464=) c.1437T>C (p.Ser479=) c.4893T>C (p.Ser1631=) c.1217T>C c.1404T>C (p.Ser468=) c.*4613T>C (n.*4613T>C) c.1143T>C (p.Ser381=) c.5-7133T>C (n.5-7133T>C) c.303T>C (p.Ser101=) c.-98-20894T>C (n.-98-20894T>C) n.4966T>C n.5007T>C | dbSNP gnomAD v4 |
| 17 | g.43071084A>T | CA500231812 | BRCA1 | c.4827T>A (p.Ser1609=) c.4830T>A (p.Ser1610=) c.4704T>A (p.Ser1568=) c.4824T>A (p.Ser1608=) c.4752T>A (p.Ser1584=) c.1518T>A (p.Ser506=) c.1380T>A (p.Ser460=) c.3942T>A (p.Ser1314=) c.4707T>A (p.Ser1569=) c.4896T>A (p.Ser1632=) c.4689T>A (p.Ser1563=) c.1392T>A (p.Ser464=) c.1437T>A (p.Ser479=) c.4893T>A (p.Ser1631=) c.1217T>A c.1404T>A (p.Ser468=) c.*4613T>A (n.*4613T>A) c.1143T>A (p.Ser381=) c.5-7133T>A (n.5-7133T>A) c.303T>A (p.Ser101=) c.-98-20894T>A (n.-98-20894T>A) n.4966T>A n.5007T>A | dbSNP |