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 |
|---|---|---|---|---|---|
| 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) | |
| 11 | g.121605131A= | CA2004922126 | SORL1 | c.4670A= (p.Lys1557=) c.1502A= (p.Lys501=) c.515A= (p.Lys172=) c.1208A= (p.Lys403=) c.1400A= (p.Lys467=) c.4556A= (p.Lys1519=) c.3131A= (p.Lys1044=) c.2030A= (p.Lys677=) c.4358A= (p.Lys1453=) c.4145A= (p.Lys1382=) | |
| 11 | g.121605131A>C | CA383038412 | SORL1 | c.4670A>C (p.Lys1557Thr) c.1502A>C (p.Lys501Thr) c.515A>C (p.Lys172Thr) c.1208A>C (p.Lys403Thr) c.1400A>C (p.Lys467Thr) c.4556A>C (p.Lys1519Thr) c.3131A>C (p.Lys1044Thr) c.2030A>C (p.Lys677Thr) c.4358A>C (p.Lys1453Thr) c.4145A>C (p.Lys1382Thr) | |
| 11 | g.121605131A>G | CA229873629 | SORL1 | c.4670A>G (p.Lys1557Arg) c.1502A>G (p.Lys501Arg) c.515A>G (p.Lys172Arg) c.1208A>G (p.Lys403Arg) c.1400A>G (p.Lys467Arg) c.4556A>G (p.Lys1519Arg) c.3131A>G (p.Lys1044Arg) c.2030A>G (p.Lys677Arg) c.4358A>G (p.Lys1453Arg) c.4145A>G (p.Lys1382Arg) | dbSNP |
| 11 | g.121605131A>T | CA383038411 | SORL1 | c.4670A>T (p.Lys1557Ile) c.1502A>T (p.Lys501Ile) c.515A>T (p.Lys172Ile) c.1208A>T (p.Lys403Ile) c.1400A>T (p.Lys467Ile) c.4556A>T (p.Lys1519Ile) c.3131A>T (p.Lys1044Ile) c.2030A>T (p.Lys677Ile) c.4358A>T (p.Lys1453Ile) c.4145A>T (p.Lys1382Ile) | |
| 11 | g.121605132A>C | CA383038413 | SORL1 | c.4671A>C (p.Lys1557Asn) c.1503A>C (p.Lys501Asn) c.516A>C (p.Lys172Asn) c.1209A>C (p.Lys403Asn) c.1401A>C (p.Lys467Asn) c.4557A>C (p.Lys1519Asn) c.3132A>C (p.Lys1044Asn) c.2031A>C (p.Lys677Asn) c.4359A>C (p.Lys1453Asn) c.4146A>C (p.Lys1382Asn) | |
| 11 | g.121605132A>G | CA477221663 | SORL1 | c.4671A>G (p.Lys1557=) c.1503A>G (p.Lys501=) c.516A>G (p.Lys172=) c.1209A>G (p.Lys403=) c.1401A>G (p.Lys467=) c.4557A>G (p.Lys1519=) c.3132A>G (p.Lys1044=) c.2031A>G (p.Lys677=) c.4359A>G (p.Lys1453=) c.4146A>G (p.Lys1382=) | |
| 11 | g.121605132A>T | CA383038414 | SORL1 | c.4671A>T (p.Lys1557Asn) c.1503A>T (p.Lys501Asn) c.516A>T (p.Lys172Asn) c.1209A>T (p.Lys403Asn) c.1401A>T (p.Lys467Asn) c.4557A>T (p.Lys1519Asn) c.3132A>T (p.Lys1044Asn) c.2031A>T (p.Lys677Asn) c.4359A>T (p.Lys1453Asn) c.4146A>T (p.Lys1382Asn) | |
| 11 | g.121605133G>A | CA383038415 | SORL1 | c.4672G>A (p.Val1558Ile) c.1504G>A (p.Val502Ile) c.517G>A (p.Val173Ile) c.1210G>A (p.Val404Ile) c.1402G>A (p.Val468Ile) c.4558G>A (p.Val1520Ile) c.3133G>A (p.Val1045Ile) c.2032G>A (p.Val678Ile) c.4360G>A (p.Val1454Ile) c.4147G>A (p.Val1383Ile) | gnomAD v4 |
| 11 | g.121605133G>C | CA383038416 | SORL1 | c.4672G>C (p.Val1558Leu) c.1504G>C (p.Val502Leu) c.517G>C (p.Val173Leu) c.1210G>C (p.Val404Leu) c.1402G>C (p.Val468Leu) c.4558G>C (p.Val1520Leu) c.3133G>C (p.Val1045Leu) c.2032G>C (p.Val678Leu) c.4360G>C (p.Val1454Leu) c.4147G>C (p.Val1383Leu) | |
| 11 | g.121605133G>T | CA383038417 | SORL1 | c.4672G>T (p.Val1558Leu) c.1504G>T (p.Val502Leu) c.517G>T (p.Val173Leu) c.1210G>T (p.Val404Leu) c.1402G>T (p.Val468Leu) c.4558G>T (p.Val1520Leu) c.3133G>T (p.Val1045Leu) c.2032G>T (p.Val678Leu) c.4360G>T (p.Val1454Leu) c.4147G>T (p.Val1383Leu) | gnomAD v4 |
| 11 | g.121605134T>A | CA383038418 | SORL1 | c.4673T>A (p.Val1558Glu) c.1505T>A (p.Val502Glu) c.518T>A (p.Val173Glu) c.1211T>A (p.Val404Glu) c.1403T>A (p.Val468Glu) c.4559T>A (p.Val1520Glu) c.3134T>A (p.Val1045Glu) c.2033T>A (p.Val678Glu) c.4361T>A (p.Val1454Glu) c.4148T>A (p.Val1383Glu) | |
| 11 | g.121605134T>C | CA383038419 | SORL1 | c.4673T>C (p.Val1558Ala) c.1505T>C (p.Val502Ala) c.518T>C (p.Val173Ala) c.1211T>C (p.Val404Ala) c.1403T>C (p.Val468Ala) c.4559T>C (p.Val1520Ala) c.3134T>C (p.Val1045Ala) c.2033T>C (p.Val678Ala) c.4361T>C (p.Val1454Ala) c.4148T>C (p.Val1383Ala) | gnomAD v4 |
| 11 | g.121605134T>G | CA383038420 | SORL1 | c.4673T>G (p.Val1558Gly) c.1505T>G (p.Val502Gly) c.518T>G (p.Val173Gly) c.1211T>G (p.Val404Gly) c.1403T>G (p.Val468Gly) c.4559T>G (p.Val1520Gly) c.3134T>G (p.Val1045Gly) c.2033T>G (p.Val678Gly) c.4361T>G (p.Val1454Gly) c.4148T>G (p.Val1383Gly) | |
| 11 | g.121605135A>C | CA477221666 | SORL1 | c.4674A>C (p.Val1558=) c.1506A>C (p.Val502=) c.519A>C (p.Val173=) c.1212A>C (p.Val404=) c.1404A>C (p.Val468=) c.4560A>C (p.Val1520=) c.3135A>C (p.Val1045=) c.2034A>C (p.Val678=) c.4362A>C (p.Val1454=) c.4149A>C (p.Val1383=) | gnomAD v4 |
| 11 | g.121605135A>G | CA477221667 | SORL1 | c.4674A>G (p.Val1558=) c.1506A>G (p.Val502=) c.519A>G (p.Val173=) c.1212A>G (p.Val404=) c.1404A>G (p.Val468=) c.4560A>G (p.Val1520=) c.3135A>G (p.Val1045=) c.2034A>G (p.Val678=) c.4362A>G (p.Val1454=) c.4149A>G (p.Val1383=) | |
| 11 | g.121605135A>T | CA477221668 | SORL1 | c.4674A>T (p.Val1558=) c.1506A>T (p.Val502=) c.519A>T (p.Val173=) c.1212A>T (p.Val404=) c.1404A>T (p.Val468=) c.4560A>T (p.Val1520=) c.3135A>T (p.Val1045=) c.2034A>T (p.Val678=) c.4362A>T (p.Val1454=) c.4149A>T (p.Val1383=) | |
| 11 | g.121605136C>A | CA383038421 | SORL1 | c.4675C>A (p.Gln1559Lys) c.1507C>A (p.Gln503Lys) c.520C>A (p.Gln174Lys) c.1213C>A (p.Gln405Lys) c.1405C>A (p.Gln469Lys) c.4561C>A (p.Gln1521Lys) c.3136C>A (p.Gln1046Lys) c.2035C>A (p.Gln679Lys) c.4363C>A (p.Gln1455Lys) c.4150C>A (p.Gln1384Lys) | |
| 11 | g.121605136C>G | CA383038422 | SORL1 | c.4675C>G (p.Gln1559Glu) c.1507C>G (p.Gln503Glu) c.520C>G (p.Gln174Glu) c.1213C>G (p.Gln405Glu) c.1405C>G (p.Gln469Glu) c.4561C>G (p.Gln1521Glu) c.3136C>G (p.Gln1046Glu) c.2035C>G (p.Gln679Glu) c.4363C>G (p.Gln1455Glu) c.4150C>G (p.Gln1384Glu) |