Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
11 | g.121605126G>T | CA477221656 | SORL1 | c.4665G>T (p.Val1555=) c.1497G>T (p.Val499=) c.510G>T (p.Val170=) c.1203G>T (p.Val401=) c.1395G>T (p.Val465=) c.4551G>T (p.Val1517=) c.3126G>T (p.Val1042=) c.2025G>T (p.Val675=) c.4353G>T (p.Val1451=) c.4140G>T (p.Val1380=) | |
11 | g.121605127T>A | CA383038401 | SORL1 | c.4666T>A (p.Tyr1556Asn) c.1498T>A (p.Tyr500Asn) c.511T>A (p.Tyr171Asn) c.1204T>A (p.Tyr402Asn) c.1396T>A (p.Tyr466Asn) c.4552T>A (p.Tyr1518Asn) c.3127T>A (p.Tyr1043Asn) c.2026T>A (p.Tyr676Asn) c.4354T>A (p.Tyr1452Asn) c.4141T>A (p.Tyr1381Asn) | |
11 | g.121605127T>C | CA229873623 | SORL1 | c.4666T>C (p.Tyr1556His) c.1498T>C (p.Tyr500His) c.511T>C (p.Tyr171His) c.1204T>C (p.Tyr402His) c.1396T>C (p.Tyr466His) c.4552T>C (p.Tyr1518His) c.3127T>C (p.Tyr1043His) c.2026T>C (p.Tyr676His) c.4354T>C (p.Tyr1452His) c.4141T>C (p.Tyr1381His) | dbSNP |
11 | g.121605127T>G | CA383038402 | SORL1 | c.4666T>G (p.Tyr1556Asp) c.1498T>G (p.Tyr500Asp) c.511T>G (p.Tyr171Asp) c.1204T>G (p.Tyr402Asp) c.1396T>G (p.Tyr466Asp) c.4552T>G (p.Tyr1518Asp) c.3127T>G (p.Tyr1043Asp) c.2026T>G (p.Tyr676Asp) c.4354T>G (p.Tyr1452Asp) c.4141T>G (p.Tyr1381Asp) | |
11 | g.121605127T= | CA2004922118 | SORL1 | c.4666T= (p.Tyr1556=) c.1498T= (p.Tyr500=) c.511T= (p.Tyr171=) c.1204T= (p.Tyr402=) c.1396T= (p.Tyr466=) c.4552T= (p.Tyr1518=) c.3127T= (p.Tyr1043=) c.2026T= (p.Tyr676=) c.4354T= (p.Tyr1452=) c.4141T= (p.Tyr1381=) | |
11 | g.121605128A= | CA2004922120 | SORL1 | c.4667A= (p.Tyr1556=) c.1499A= (p.Tyr500=) c.512A= (p.Tyr171=) c.1205A= (p.Tyr402=) c.1397A= (p.Tyr466=) c.4553A= (p.Tyr1518=) c.3128A= (p.Tyr1043=) c.2027A= (p.Tyr676=) c.4355A= (p.Tyr1452=) c.4142A= (p.Tyr1381=) | |
11 | g.121605128A>C | CA383038403 | SORL1 | c.4667A>C (p.Tyr1556Ser) c.1499A>C (p.Tyr500Ser) c.512A>C (p.Tyr171Ser) c.1205A>C (p.Tyr402Ser) c.1397A>C (p.Tyr466Ser) c.4553A>C (p.Tyr1518Ser) c.3128A>C (p.Tyr1043Ser) c.2027A>C (p.Tyr676Ser) c.4355A>C (p.Tyr1452Ser) c.4142A>C (p.Tyr1381Ser) | |
11 | g.121605128A>G | CA383038404 | SORL1 | c.4667A>G (p.Tyr1556Cys) c.1499A>G (p.Tyr500Cys) c.512A>G (p.Tyr171Cys) c.1205A>G (p.Tyr402Cys) c.1397A>G (p.Tyr466Cys) c.4553A>G (p.Tyr1518Cys) c.3128A>G (p.Tyr1043Cys) c.2027A>G (p.Tyr676Cys) c.4355A>G (p.Tyr1452Cys) c.4142A>G (p.Tyr1381Cys) | dbSNP gnomAD v4 |
11 | g.121605128A>T | CA383038405 | SORL1 | c.4667A>T (p.Tyr1556Phe) c.1499A>T (p.Tyr500Phe) c.512A>T (p.Tyr171Phe) c.1205A>T (p.Tyr402Phe) c.1397A>T (p.Tyr466Phe) c.4553A>T (p.Tyr1518Phe) c.3128A>T (p.Tyr1043Phe) c.2027A>T (p.Tyr676Phe) c.4355A>T (p.Tyr1452Phe) c.4142A>T (p.Tyr1381Phe) | |
11 | g.121605129C>A | CA383038406 | SORL1 | c.4668C>A (p.Tyr1556Ter) c.1500C>A (p.Tyr500Ter) c.513C>A (p.Tyr171Ter) c.1206C>A (p.Tyr402Ter) c.1398C>A (p.Tyr466Ter) c.4554C>A (p.Tyr1518Ter) c.3129C>A (p.Tyr1043Ter) c.2028C>A (p.Tyr676Ter) c.4356C>A (p.Tyr1452Ter) c.4143C>A (p.Tyr1381Ter) | |
11 | g.121605129C>G | CA383038407 | SORL1 | c.4668C>G (p.Tyr1556Ter) c.1500C>G (p.Tyr500Ter) c.513C>G (p.Tyr171Ter) c.1206C>G (p.Tyr402Ter) c.1398C>G (p.Tyr466Ter) c.4554C>G (p.Tyr1518Ter) c.3129C>G (p.Tyr1043Ter) c.2028C>G (p.Tyr676Ter) c.4356C>G (p.Tyr1452Ter) c.4143C>G (p.Tyr1381Ter) | |
11 | g.121605129C>T | CA477221661 | SORL1 | c.4668C>T (p.Tyr1556=) c.1500C>T (p.Tyr500=) c.513C>T (p.Tyr171=) c.1206C>T (p.Tyr402=) c.1398C>T (p.Tyr466=) c.4554C>T (p.Tyr1518=) c.3129C>T (p.Tyr1043=) c.2028C>T (p.Tyr676=) c.4356C>T (p.Tyr1452=) c.4143C>T (p.Tyr1381=) | gnomAD v4 |
11 | g.121605130A= | CA2004922123 | SORL1 | c.4669A= (p.Lys1557=) c.1501A= (p.Lys501=) c.514A= (p.Lys172=) c.1207A= (p.Lys403=) c.1399A= (p.Lys467=) c.4555A= (p.Lys1519=) c.3130A= (p.Lys1044=) c.2029A= (p.Lys677=) c.4357A= (p.Lys1453=) c.4144A= (p.Lys1382=) | |
11 | g.121605130A>C | CA383038408 | SORL1 | c.4669A>C (p.Lys1557Gln) c.1501A>C (p.Lys501Gln) c.514A>C (p.Lys172Gln) c.1207A>C (p.Lys403Gln) c.1399A>C (p.Lys467Gln) c.4555A>C (p.Lys1519Gln) c.3130A>C (p.Lys1044Gln) c.2029A>C (p.Lys677Gln) c.4357A>C (p.Lys1453Gln) c.4144A>C (p.Lys1382Gln) | |
11 | g.121605130A>G | CA383038409 | SORL1 | c.4669A>G (p.Lys1557Glu) c.1501A>G (p.Lys501Glu) c.514A>G (p.Lys172Glu) c.1207A>G (p.Lys403Glu) c.1399A>G (p.Lys467Glu) c.4555A>G (p.Lys1519Glu) c.3130A>G (p.Lys1044Glu) c.2029A>G (p.Lys677Glu) c.4357A>G (p.Lys1453Glu) c.4144A>G (p.Lys1382Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121605130A>T | CA383038410 | SORL1 | c.4669A>T (p.Lys1557Ter) c.1501A>T (p.Lys501Ter) c.514A>T (p.Lys172Ter) c.1207A>T (p.Lys403Ter) c.1399A>T (p.Lys467Ter) c.4555A>T (p.Lys1519Ter) c.3130A>T (p.Lys1044Ter) c.2029A>T (p.Lys677Ter) c.4357A>T (p.Lys1453Ter) c.4144A>T (p.Lys1382Ter) |