| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.121605113A= | CA2004922095 | SORL1 | c.4652A= (p.Asp1551=) c.1484A= (p.Asp495=) c.497A= (p.Asp166=) c.1190A= (p.Asp397=) c.1382A= (p.Asp461=) c.4538A= (p.Asp1513=) c.3113A= (p.Asp1038=) c.2012A= (p.Asp671=) c.4340A= (p.Asp1447=) c.4127A= (p.Asp1376=) | |
| 11 | g.121605113A>C | CA383038372 | SORL1 | c.4652A>C (p.Asp1551Ala) c.1484A>C (p.Asp495Ala) c.497A>C (p.Asp166Ala) c.1190A>C (p.Asp397Ala) c.1382A>C (p.Asp461Ala) c.4538A>C (p.Asp1513Ala) c.3113A>C (p.Asp1038Ala) c.2012A>C (p.Asp671Ala) c.4340A>C (p.Asp1447Ala) c.4127A>C (p.Asp1376Ala) | |
| 11 | g.121605113A>G | CA6329723 | SORL1 | c.4652A>G (p.Asp1551Gly) c.1484A>G (p.Asp495Gly) c.497A>G (p.Asp166Gly) c.1190A>G (p.Asp397Gly) c.1382A>G (p.Asp461Gly) c.4538A>G (p.Asp1513Gly) c.3113A>G (p.Asp1038Gly) c.2012A>G (p.Asp671Gly) c.4340A>G (p.Asp1447Gly) c.4127A>G (p.Asp1376Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.121605113A>T | CA6329722 | SORL1 | c.4652A>T (p.Asp1551Val) c.1484A>T (p.Asp495Val) c.497A>T (p.Asp166Val) c.1190A>T (p.Asp397Val) c.1382A>T (p.Asp461Val) c.4538A>T (p.Asp1513Val) c.3113A>T (p.Asp1038Val) c.2012A>T (p.Asp671Val) c.4340A>T (p.Asp1447Val) c.4127A>T (p.Asp1376Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121605114T>A | CA383038373 | SORL1 | c.4653T>A (p.Asp1551Glu) c.1485T>A (p.Asp495Glu) c.498T>A (p.Asp166Glu) c.1191T>A (p.Asp397Glu) c.1383T>A (p.Asp461Glu) c.4539T>A (p.Asp1513Glu) c.3114T>A (p.Asp1038Glu) c.2013T>A (p.Asp671Glu) c.4341T>A (p.Asp1447Glu) c.4128T>A (p.Asp1376Glu) | |
| 11 | g.121605114T>C | CA477221644 | SORL1 | c.4653T>C (p.Asp1551=) c.1485T>C (p.Asp495=) c.498T>C (p.Asp166=) c.1191T>C (p.Asp397=) c.1383T>C (p.Asp461=) c.4539T>C (p.Asp1513=) c.3114T>C (p.Asp1038=) c.2013T>C (p.Asp671=) c.4341T>C (p.Asp1447=) c.4128T>C (p.Asp1376=) | |
| 11 | g.121605114T>G | CA383038374 | SORL1 | c.4653T>G (p.Asp1551Glu) c.1485T>G (p.Asp495Glu) c.498T>G (p.Asp166Glu) c.1191T>G (p.Asp397Glu) c.1383T>G (p.Asp461Glu) c.4539T>G (p.Asp1513Glu) c.3114T>G (p.Asp1038Glu) c.2013T>G (p.Asp671Glu) c.4341T>G (p.Asp1447Glu) c.4128T>G (p.Asp1376Glu) | |
| 11 | g.121605115G>A | CA383038375 | SORL1 | c.4654G>A (p.Glu1552Lys) c.1486G>A (p.Glu496Lys) c.499G>A (p.Glu167Lys) c.1192G>A (p.Glu398Lys) c.1384G>A (p.Glu462Lys) c.4540G>A (p.Glu1514Lys) c.3115G>A (p.Glu1039Lys) c.2014G>A (p.Glu672Lys) c.4342G>A (p.Glu1448Lys) c.4129G>A (p.Glu1377Lys) | gnomAD v4 |
| 11 | g.121605115G>C | CA383038376 | SORL1 | c.4654G>C (p.Glu1552Gln) c.1486G>C (p.Glu496Gln) c.499G>C (p.Glu167Gln) c.1192G>C (p.Glu398Gln) c.1384G>C (p.Glu462Gln) c.4540G>C (p.Glu1514Gln) c.3115G>C (p.Glu1039Gln) c.2014G>C (p.Glu672Gln) c.4342G>C (p.Glu1448Gln) c.4129G>C (p.Glu1377Gln) | |
| 11 | g.121605115G>T | CA383038377 | SORL1 | c.4654G>T (p.Glu1552Ter) c.1486G>T (p.Glu496Ter) c.499G>T (p.Glu167Ter) c.1192G>T (p.Glu398Ter) c.1384G>T (p.Glu462Ter) c.4540G>T (p.Glu1514Ter) c.3115G>T (p.Glu1039Ter) c.2014G>T (p.Glu672Ter) c.4342G>T (p.Glu1448Ter) c.4129G>T (p.Glu1377Ter) | |
| 11 | g.121605116A>C | CA383038378 | SORL1 | c.4655A>C (p.Glu1552Ala) c.1487A>C (p.Glu496Ala) c.500A>C (p.Glu167Ala) c.1193A>C (p.Glu398Ala) c.1385A>C (p.Glu462Ala) c.4541A>C (p.Glu1514Ala) c.3116A>C (p.Glu1039Ala) c.2015A>C (p.Glu672Ala) c.4343A>C (p.Glu1448Ala) c.4130A>C (p.Glu1377Ala) | |
| 11 | g.121605116A>G | CA383038379 | SORL1 | c.4655A>G (p.Glu1552Gly) c.1487A>G (p.Glu496Gly) c.500A>G (p.Glu167Gly) c.1193A>G (p.Glu398Gly) c.1385A>G (p.Glu462Gly) c.4541A>G (p.Glu1514Gly) c.3116A>G (p.Glu1039Gly) c.2015A>G (p.Glu672Gly) c.4343A>G (p.Glu1448Gly) c.4130A>G (p.Glu1377Gly) | |
| 11 | g.121605116A>T | CA383038380 | SORL1 | c.4655A>T (p.Glu1552Val) c.1487A>T (p.Glu496Val) c.500A>T (p.Glu167Val) c.1193A>T (p.Glu398Val) c.1385A>T (p.Glu462Val) c.4541A>T (p.Glu1514Val) c.3116A>T (p.Glu1039Val) c.2015A>T (p.Glu672Val) c.4343A>T (p.Glu1448Val) c.4130A>T (p.Glu1377Val) | |
| 11 | g.121605117G>A | CA477221645 | SORL1 | c.4656G>A (p.Glu1552=) c.1488G>A (p.Glu496=) c.501G>A (p.Glu167=) c.1194G>A (p.Glu398=) c.1386G>A (p.Glu462=) c.4542G>A (p.Glu1514=) c.3117G>A (p.Glu1039=) c.2016G>A (p.Glu672=) c.4344G>A (p.Glu1448=) c.4131G>A (p.Glu1377=) | |
| 11 | g.121605117G>C | CA383038381 | SORL1 | c.4656G>C (p.Glu1552Asp) c.1488G>C (p.Glu496Asp) c.501G>C (p.Glu167Asp) c.1194G>C (p.Glu398Asp) c.1386G>C (p.Glu462Asp) c.4542G>C (p.Glu1514Asp) c.3117G>C (p.Glu1039Asp) c.2016G>C (p.Glu672Asp) c.4344G>C (p.Glu1448Asp) c.4131G>C (p.Glu1377Asp) | |
| 11 | g.121605117G>T | CA383038382 | SORL1 | c.4656G>T (p.Glu1552Asp) c.1488G>T (p.Glu496Asp) c.501G>T (p.Glu167Asp) c.1194G>T (p.Glu398Asp) c.1386G>T (p.Glu462Asp) c.4542G>T (p.Glu1514Asp) c.3117G>T (p.Glu1039Asp) c.2016G>T (p.Glu672Asp) c.4344G>T (p.Glu1448Asp) c.4131G>T (p.Glu1377Asp) | |
| 11 | g.121605118T>A | CA383038383 | SORL1 | c.4657T>A (p.Leu1553Met) c.1489T>A (p.Leu497Met) c.502T>A (p.Leu168Met) c.1195T>A (p.Leu399Met) c.1387T>A (p.Leu463Met) c.4543T>A (p.Leu1515Met) c.3118T>A (p.Leu1040Met) c.2017T>A (p.Leu673Met) c.4345T>A (p.Leu1449Met) c.4132T>A (p.Leu1378Met) | |
| 11 | g.121605118T>C | CA6329724 | SORL1 | c.4657T>C (p.Leu1553=) c.1489T>C (p.Leu497=) c.502T>C (p.Leu168=) c.1195T>C (p.Leu399=) c.1387T>C (p.Leu463=) c.4543T>C (p.Leu1515=) c.3118T>C (p.Leu1040=) c.2017T>C (p.Leu673=) c.4345T>C (p.Leu1449=) c.4132T>C (p.Leu1378=) | dbSNP ExAC gnomAD v2 |
| 11 | g.121605118T>G | CA383038384 | SORL1 | c.4657T>G (p.Leu1553Val) c.1489T>G (p.Leu497Val) c.502T>G (p.Leu168Val) c.1195T>G (p.Leu399Val) c.1387T>G (p.Leu463Val) c.4543T>G (p.Leu1515Val) c.3118T>G (p.Leu1040Val) c.2017T>G (p.Leu673Val) c.4345T>G (p.Leu1449Val) c.4132T>G (p.Leu1378Val) | |
| 11 | g.121605118T= | CA2004922098 | SORL1 | c.4657T= (p.Leu1553=) c.1489T= (p.Leu497=) c.502T= (p.Leu168=) c.1195T= (p.Leu399=) c.1387T= (p.Leu463=) c.4543T= (p.Leu1515=) c.3118T= (p.Leu1040=) c.2017T= (p.Leu673=) c.4345T= (p.Leu1449=) c.4132T= (p.Leu1378=) | |
| 11 | g.121605119T>A | CA383038385 | SORL1 | c.4658T>A (p.Leu1553Ter) c.1490T>A (p.Leu497Ter) c.503T>A (p.Leu168Ter) c.1196T>A (p.Leu399Ter) c.1388T>A (p.Leu463Ter) c.4544T>A (p.Leu1515Ter) c.3119T>A (p.Leu1040Ter) c.2018T>A (p.Leu673Ter) c.4346T>A (p.Leu1449Ter) c.4133T>A (p.Leu1378Ter) | |
| 11 | g.121605119T>C | CA383038386 | SORL1 | c.4658T>C (p.Leu1553Ser) c.1490T>C (p.Leu497Ser) c.503T>C (p.Leu168Ser) c.1196T>C (p.Leu399Ser) c.1388T>C (p.Leu463Ser) c.4544T>C (p.Leu1515Ser) c.3119T>C (p.Leu1040Ser) c.2018T>C (p.Leu673Ser) c.4346T>C (p.Leu1449Ser) c.4133T>C (p.Leu1378Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.121605119T>G | CA383038387 | SORL1 | c.4658T>G (p.Leu1553Trp) c.1490T>G (p.Leu497Trp) c.503T>G (p.Leu168Trp) c.1196T>G (p.Leu399Trp) c.1388T>G (p.Leu463Trp) c.4544T>G (p.Leu1515Trp) c.3119T>G (p.Leu1040Trp) c.2018T>G (p.Leu673Trp) c.4346T>G (p.Leu1449Trp) c.4133T>G (p.Leu1378Trp) | |
| 11 | g.121605119T= | CA2004922102 | SORL1 | c.4658T= (p.Leu1553=) c.1490T= (p.Leu497=) c.503T= (p.Leu168=) c.1196T= (p.Leu399=) c.1388T= (p.Leu463=) c.4544T= (p.Leu1515=) c.3119T= (p.Leu1040=) c.2018T= (p.Leu673=) c.4346T= (p.Leu1449=) c.4133T= (p.Leu1378=) | |
| 11 | g.121605120G>A | CA477221649 | SORL1 | c.4659G>A (p.Leu1553=) c.1491G>A (p.Leu497=) c.504G>A (p.Leu168=) c.1197G>A (p.Leu399=) c.1389G>A (p.Leu463=) c.4545G>A (p.Leu1515=) c.3120G>A (p.Leu1040=) c.2019G>A (p.Leu673=) c.4347G>A (p.Leu1449=) c.4134G>A (p.Leu1378=) | |
| 11 | g.121605120G>C | CA383038388 | SORL1 | c.4659G>C (p.Leu1553Phe) c.1491G>C (p.Leu497Phe) c.504G>C (p.Leu168Phe) c.1197G>C (p.Leu399Phe) c.1389G>C (p.Leu463Phe) c.4545G>C (p.Leu1515Phe) c.3120G>C (p.Leu1040Phe) c.2019G>C (p.Leu673Phe) c.4347G>C (p.Leu1449Phe) c.4134G>C (p.Leu1378Phe) | |
| 11 | g.121605120G= | CA2004922104 | SORL1 | c.4659G= (p.Leu1553=) c.1491G= (p.Leu497=) c.504G= (p.Leu168=) c.1197G= (p.Leu399=) c.1389G= (p.Leu463=) c.4545G= (p.Leu1515=) c.3120G= (p.Leu1040=) c.2019G= (p.Leu673=) c.4347G= (p.Leu1449=) c.4134G= (p.Leu1378=) | |
| 11 | g.121605120G>T | CA383038389 | SORL1 | c.4659G>T (p.Leu1553Phe) c.1491G>T (p.Leu497Phe) c.504G>T (p.Leu168Phe) c.1197G>T (p.Leu399Phe) c.1389G>T (p.Leu463Phe) c.4545G>T (p.Leu1515Phe) c.3120G>T (p.Leu1040Phe) c.2019G>T (p.Leu673Phe) c.4347G>T (p.Leu1449Phe) c.4134G>T (p.Leu1378Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.121605121A>C | CA383038390 | SORL1 | c.4660A>C (p.Thr1554Pro) c.1492A>C (p.Thr498Pro) c.505A>C (p.Thr169Pro) c.1198A>C (p.Thr400Pro) c.1390A>C (p.Thr464Pro) c.4546A>C (p.Thr1516Pro) c.3121A>C (p.Thr1041Pro) c.2020A>C (p.Thr674Pro) c.4348A>C (p.Thr1450Pro) c.4135A>C (p.Thr1379Pro) | |
| 11 | g.121605121A>G | CA383038391 | SORL1 | c.4660A>G (p.Thr1554Ala) c.1492A>G (p.Thr498Ala) c.505A>G (p.Thr169Ala) c.1198A>G (p.Thr400Ala) c.1390A>G (p.Thr464Ala) c.4546A>G (p.Thr1516Ala) c.3121A>G (p.Thr1041Ala) c.2020A>G (p.Thr674Ala) c.4348A>G (p.Thr1450Ala) c.4135A>G (p.Thr1379Ala) | |
| 11 | g.121605121A>T | CA383038392 | SORL1 | c.4660A>T (p.Thr1554Ser) c.1492A>T (p.Thr498Ser) c.505A>T (p.Thr169Ser) c.1198A>T (p.Thr400Ser) c.1390A>T (p.Thr464Ser) c.4546A>T (p.Thr1516Ser) c.3121A>T (p.Thr1041Ser) c.2020A>T (p.Thr674Ser) c.4348A>T (p.Thr1450Ser) c.4135A>T (p.Thr1379Ser) | gnomAD v4 |
| 11 | g.121605122C>A | CA383038393 | SORL1 | c.4661C>A (p.Thr1554Asn) c.1493C>A (p.Thr498Asn) c.506C>A (p.Thr169Asn) c.1199C>A (p.Thr400Asn) c.1391C>A (p.Thr464Asn) c.4547C>A (p.Thr1516Asn) c.3122C>A (p.Thr1041Asn) c.2021C>A (p.Thr674Asn) c.4349C>A (p.Thr1450Asn) c.4136C>A (p.Thr1379Asn) | |
| 11 | g.121605122C>G | CA383038395 | SORL1 | c.4661C>G (p.Thr1554Ser) c.1493C>G (p.Thr498Ser) c.506C>G (p.Thr169Ser) c.1199C>G (p.Thr400Ser) c.1391C>G (p.Thr464Ser) c.4547C>G (p.Thr1516Ser) c.3122C>G (p.Thr1041Ser) c.2021C>G (p.Thr674Ser) c.4349C>G (p.Thr1450Ser) c.4136C>G (p.Thr1379Ser) | |
| 11 | g.121605122C>T | CA383038394 | SORL1 | c.4661C>T (p.Thr1554Ile) c.1493C>T (p.Thr498Ile) c.506C>T (p.Thr169Ile) c.1199C>T (p.Thr400Ile) c.1391C>T (p.Thr464Ile) c.4547C>T (p.Thr1516Ile) c.3122C>T (p.Thr1041Ile) c.2021C>T (p.Thr674Ile) c.4349C>T (p.Thr1450Ile) c.4136C>T (p.Thr1379Ile) | |
| 11 | g.121605123T>A | CA477221651 | SORL1 | c.4662T>A (p.Thr1554=) c.1494T>A (p.Thr498=) c.507T>A (p.Thr169=) c.1200T>A (p.Thr400=) c.1392T>A (p.Thr464=) c.4548T>A (p.Thr1516=) c.3123T>A (p.Thr1041=) c.2022T>A (p.Thr674=) c.4350T>A (p.Thr1450=) c.4137T>A (p.Thr1379=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.121605123T>C | CA477221653 | SORL1 | c.4662T>C (p.Thr1554=) c.1494T>C (p.Thr498=) c.507T>C (p.Thr169=) c.1200T>C (p.Thr400=) c.1392T>C (p.Thr464=) c.4548T>C (p.Thr1516=) c.3123T>C (p.Thr1041=) c.2022T>C (p.Thr674=) c.4350T>C (p.Thr1450=) c.4137T>C (p.Thr1379=) | |
| 11 | g.121605123T>G | CA477221652 | SORL1 | c.4662T>G (p.Thr1554=) c.1494T>G (p.Thr498=) c.507T>G (p.Thr169=) c.1200T>G (p.Thr400=) c.1392T>G (p.Thr464=) c.4548T>G (p.Thr1516=) c.3123T>G (p.Thr1041=) c.2022T>G (p.Thr674=) c.4350T>G (p.Thr1450=) c.4137T>G (p.Thr1379=) | |
| 11 | g.121605123T= | CA2004922107 | SORL1 | c.4662T= (p.Thr1554=) c.1494T= (p.Thr498=) c.507T= (p.Thr169=) c.1200T= (p.Thr400=) c.1392T= (p.Thr464=) c.4548T= (p.Thr1516=) c.3123T= (p.Thr1041=) c.2022T= (p.Thr674=) c.4350T= (p.Thr1450=) c.4137T= (p.Thr1379=) | |
| 11 | g.121605126_121605127del | CA2616502573 | SORL1 | c.4665_4666del (p.Tyr1556GlnfsTer10) c.1497_1498del (p.Tyr500GlnfsTer10) c.510_511del (p.Tyr171GlnfsTer10) c.1203_1204del (p.Tyr402GlnfsTer10) c.1395_1396del (p.Tyr466GlnfsTer10) c.4551_4552del (p.Tyr1518GlnfsTer10) c.3126_3127del (p.Tyr1043GlnfsTer10) c.2025_2026del (p.Tyr676GlnfsTer10) c.4353_4354del (p.Tyr1452GlnfsTer10) c.4140_4141del (p.Tyr1381GlnfsTer10) | gnomAD v4 |
| 11 | g.121605124G>A | CA6329725 | SORL1 | c.4663G>A (p.Val1555Met) c.1495G>A (p.Val499Met) c.508G>A (p.Val170Met) c.1201G>A (p.Val401Met) c.1393G>A (p.Val465Met) c.4549G>A (p.Val1517Met) c.3124G>A (p.Val1042Met) c.2023G>A (p.Val675Met) c.4351G>A (p.Val1451Met) c.4138G>A (p.Val1380Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121605124G>C | CA383038397 | SORL1 | c.4663G>C (p.Val1555Leu) c.1495G>C (p.Val499Leu) c.508G>C (p.Val170Leu) c.1201G>C (p.Val401Leu) c.1393G>C (p.Val465Leu) c.4549G>C (p.Val1517Leu) c.3124G>C (p.Val1042Leu) c.2023G>C (p.Val675Leu) c.4351G>C (p.Val1451Leu) c.4138G>C (p.Val1380Leu) | |
| 11 | g.121605124G= | CA2004922109 | SORL1 | c.4663G= (p.Val1555=) c.1495G= (p.Val499=) c.508G= (p.Val170=) c.1201G= (p.Val401=) c.1393G= (p.Val465=) c.4549G= (p.Val1517=) c.3124G= (p.Val1042=) c.2023G= (p.Val675=) c.4351G= (p.Val1451=) c.4138G= (p.Val1380=) | |
| 11 | g.121605124G>T | CA383038396 | SORL1 | c.4663G>T (p.Val1555Leu) c.1495G>T (p.Val499Leu) c.508G>T (p.Val170Leu) c.1201G>T (p.Val401Leu) c.1393G>T (p.Val465Leu) c.4549G>T (p.Val1517Leu) c.3124G>T (p.Val1042Leu) c.2023G>T (p.Val675Leu) c.4351G>T (p.Val1451Leu) c.4138G>T (p.Val1380Leu) | |
| 11 | g.121605125T>A | CA383038398 | SORL1 | c.4664T>A (p.Val1555Glu) c.1496T>A (p.Val499Glu) c.509T>A (p.Val170Glu) c.1202T>A (p.Val401Glu) c.1394T>A (p.Val465Glu) c.4550T>A (p.Val1517Glu) c.3125T>A (p.Val1042Glu) c.2024T>A (p.Val675Glu) c.4352T>A (p.Val1451Glu) c.4139T>A (p.Val1380Glu) | |
| 11 | g.121605125T>C | CA383038400 | SORL1 | c.4664T>C (p.Val1555Ala) c.1496T>C (p.Val499Ala) c.509T>C (p.Val170Ala) c.1202T>C (p.Val401Ala) c.1394T>C (p.Val465Ala) c.4550T>C (p.Val1517Ala) c.3125T>C (p.Val1042Ala) c.2024T>C (p.Val675Ala) c.4352T>C (p.Val1451Ala) c.4139T>C (p.Val1380Ala) | dbSNP |
| 11 | g.121605125T>G | CA383038399 | SORL1 | c.4664T>G (p.Val1555Gly) c.1496T>G (p.Val499Gly) c.509T>G (p.Val170Gly) c.1202T>G (p.Val401Gly) c.1394T>G (p.Val465Gly) c.4550T>G (p.Val1517Gly) c.3125T>G (p.Val1042Gly) c.2024T>G (p.Val675Gly) c.4352T>G (p.Val1451Gly) c.4139T>G (p.Val1380Gly) | |
| 11 | g.121605125T= | CA2004922112 | SORL1 | c.4664T= (p.Val1555=) c.1496T= (p.Val499=) c.509T= (p.Val170=) c.1202T= (p.Val401=) c.1394T= (p.Val465=) c.4550T= (p.Val1517=) c.3125T= (p.Val1042=) c.2024T= (p.Val675=) c.4352T= (p.Val1451=) c.4139T= (p.Val1380=) | |
| 11 | g.121605126G>A | CA477221655 | SORL1 | c.4665G>A (p.Val1555=) c.1497G>A (p.Val499=) c.510G>A (p.Val170=) c.1203G>A (p.Val401=) c.1395G>A (p.Val465=) c.4551G>A (p.Val1517=) c.3126G>A (p.Val1042=) c.2025G>A (p.Val675=) c.4353G>A (p.Val1451=) c.4140G>A (p.Val1380=) | dbSNP gnomAD v2 |
| 11 | g.121605126G>C | CA477221657 | SORL1 | c.4665G>C (p.Val1555=) c.1497G>C (p.Val499=) c.510G>C (p.Val170=) c.1203G>C (p.Val401=) c.1395G>C (p.Val465=) c.4551G>C (p.Val1517=) c.3126G>C (p.Val1042=) c.2025G>C (p.Val675=) c.4353G>C (p.Val1451=) c.4140G>C (p.Val1380=) | |
| 11 | g.121605126G= | CA2004922114 | SORL1 | c.4665G= (p.Val1555=) c.1497G= (p.Val499=) c.510G= (p.Val170=) c.1203G= (p.Val401=) c.1395G= (p.Val465=) c.4551G= (p.Val1517=) c.3126G= (p.Val1042=) c.2025G= (p.Val675=) c.4353G= (p.Val1451=) c.4140G= (p.Val1380=) |