| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.121586253C>A | CA383027301 | SORL1 | c.3738C>A (p.Asn1246Lys) c.570C>A (p.Asn190Lys) c.276C>A (p.Asn92Lys) c.468C>A (p.Asn156Lys) c.3624C>A (p.Asn1208Lys) c.2199C>A (p.Asn733Lys) c.1098C>A (p.Asn366Lys) c.3426C>A (p.Asn1142Lys) c.3213C>A (p.Asn1071Lys) | |
| 11 | g.121586253C= | CA2004951383 | SORL1 | c.3738C= (p.Asn1246=) c.570C= (p.Asn190=) c.276C= (p.Asn92=) c.468C= (p.Asn156=) c.3624C= (p.Asn1208=) c.2199C= (p.Asn733=) c.1098C= (p.Asn366=) c.3426C= (p.Asn1142=) c.3213C= (p.Asn1071=) | |
| 11 | g.121586253C>G | CA6329388 | SORL1 | c.3738C>G (p.Asn1246Lys) c.570C>G (p.Asn190Lys) c.276C>G (p.Asn92Lys) c.468C>G (p.Asn156Lys) c.3624C>G (p.Asn1208Lys) c.2199C>G (p.Asn733Lys) c.1098C>G (p.Asn366Lys) c.3426C>G (p.Asn1142Lys) c.3213C>G (p.Asn1071Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121586253C>T | CA6329387 | SORL1 | c.3738C>T (p.Asn1246=) c.570C>T (p.Asn190=) c.276C>T (p.Asn92=) c.468C>T (p.Asn156=) c.3624C>T (p.Asn1208=) c.2199C>T (p.Asn733=) c.1098C>T (p.Asn366=) c.3426C>T (p.Asn1142=) c.3213C>T (p.Asn1071=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121586254G>A | CA6329389 | SORL1 | c.3739G>A (p.Gly1247Ser) c.571G>A (p.Gly191Ser) c.277G>A (p.Gly93Ser) c.469G>A (p.Gly157Ser) c.3625G>A (p.Gly1209Ser) c.2200G>A (p.Gly734Ser) c.1099G>A (p.Gly367Ser) c.3427G>A (p.Gly1143Ser) c.3214G>A (p.Gly1072Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121586254G>C | CA383027312 | SORL1 | c.3739G>C (p.Gly1247Arg) c.571G>C (p.Gly191Arg) c.277G>C (p.Gly93Arg) c.469G>C (p.Gly157Arg) c.3625G>C (p.Gly1209Arg) c.2200G>C (p.Gly734Arg) c.1099G>C (p.Gly367Arg) c.3427G>C (p.Gly1143Arg) c.3214G>C (p.Gly1072Arg) | |
| 11 | g.121586254G= | CA2004951384 | SORL1 | c.3739G= (p.Gly1247=) c.571G= (p.Gly191=) c.277G= (p.Gly93=) c.469G= (p.Gly157=) c.3625G= (p.Gly1209=) c.2200G= (p.Gly734=) c.1099G= (p.Gly367=) c.3427G= (p.Gly1143=) c.3214G= (p.Gly1072=) | |
| 11 | g.121586254G>T | CA383027313 | SORL1 | c.3739G>T (p.Gly1247Cys) c.571G>T (p.Gly191Cys) c.277G>T (p.Gly93Cys) c.469G>T (p.Gly157Cys) c.3625G>T (p.Gly1209Cys) c.2200G>T (p.Gly734Cys) c.1099G>T (p.Gly367Cys) c.3427G>T (p.Gly1143Cys) c.3214G>T (p.Gly1072Cys) | |
| 11 | g.121586255G>A | CA383027314 | SORL1 | c.3740G>A (p.Gly1247Asp) c.572G>A (p.Gly191Asp) c.278G>A (p.Gly93Asp) c.470G>A (p.Gly157Asp) c.3626G>A (p.Gly1209Asp) c.2201G>A (p.Gly734Asp) c.1100G>A (p.Gly367Asp) c.3428G>A (p.Gly1143Asp) c.3215G>A (p.Gly1072Asp) | |
| 11 | g.121586255G>C | CA6329390 | SORL1 | c.3740G>C (p.Gly1247Ala) c.572G>C (p.Gly191Ala) c.278G>C (p.Gly93Ala) c.470G>C (p.Gly157Ala) c.3626G>C (p.Gly1209Ala) c.2201G>C (p.Gly734Ala) c.1100G>C (p.Gly367Ala) c.3428G>C (p.Gly1143Ala) c.3215G>C (p.Gly1072Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121586255G= | CA2004951385 | SORL1 | c.3740G= (p.Gly1247=) c.572G= (p.Gly191=) c.278G= (p.Gly93=) c.470G= (p.Gly157=) c.3626G= (p.Gly1209=) c.2201G= (p.Gly734=) c.1100G= (p.Gly367=) c.3428G= (p.Gly1143=) c.3215G= (p.Gly1072=) | |
| 11 | g.121586255G>T | CA383027317 | SORL1 | c.3740G>T (p.Gly1247Val) c.572G>T (p.Gly191Val) c.278G>T (p.Gly93Val) c.470G>T (p.Gly157Val) c.3626G>T (p.Gly1209Val) c.2201G>T (p.Gly734Val) c.1100G>T (p.Gly367Val) c.3428G>T (p.Gly1143Val) c.3215G>T (p.Gly1072Val) | dbSNP |
| 11 | g.121586256C>A | CA477219514 | SORL1 | c.3741C>A (p.Gly1247=) c.573C>A (p.Gly191=) c.279C>A (p.Gly93=) c.471C>A (p.Gly157=) c.3627C>A (p.Gly1209=) c.2202C>A (p.Gly734=) c.1101C>A (p.Gly367=) c.3429C>A (p.Gly1143=) c.3216C>A (p.Gly1072=) | |
| 11 | g.121586256C>G | CA477219515 | SORL1 | c.3741C>G (p.Gly1247=) c.573C>G (p.Gly191=) c.279C>G (p.Gly93=) c.471C>G (p.Gly157=) c.3627C>G (p.Gly1209=) c.2202C>G (p.Gly734=) c.1101C>G (p.Gly367=) c.3429C>G (p.Gly1143=) c.3216C>G (p.Gly1072=) | |
| 11 | g.121586256C>T | CA477219516 | SORL1 | c.3741C>T (p.Gly1247=) c.573C>T (p.Gly191=) c.279C>T (p.Gly93=) c.471C>T (p.Gly157=) c.3627C>T (p.Gly1209=) c.2202C>T (p.Gly734=) c.1101C>T (p.Gly367=) c.3429C>T (p.Gly1143=) c.3216C>T (p.Gly1072=) | |
| 11 | g.121586257A>C | CA383027327 | SORL1 | c.3742A>C (p.Thr1248Pro) c.574A>C (p.Thr192Pro) c.280A>C (p.Thr94Pro) c.472A>C (p.Thr158Pro) c.3628A>C (p.Thr1210Pro) c.2203A>C (p.Thr735Pro) c.1102A>C (p.Thr368Pro) c.3430A>C (p.Thr1144Pro) c.3217A>C (p.Thr1073Pro) | |
| 11 | g.121586257A>G | CA383027325 | SORL1 | c.3742A>G (p.Thr1248Ala) c.574A>G (p.Thr192Ala) c.280A>G (p.Thr94Ala) c.472A>G (p.Thr158Ala) c.3628A>G (p.Thr1210Ala) c.2203A>G (p.Thr735Ala) c.1102A>G (p.Thr368Ala) c.3430A>G (p.Thr1144Ala) c.3217A>G (p.Thr1073Ala) | gnomAD v4 |
| 11 | g.121586257A>T | CA383027322 | SORL1 | c.3742A>T (p.Thr1248Ser) c.574A>T (p.Thr192Ser) c.280A>T (p.Thr94Ser) c.472A>T (p.Thr158Ser) c.3628A>T (p.Thr1210Ser) c.2203A>T (p.Thr735Ser) c.1102A>T (p.Thr368Ser) c.3430A>T (p.Thr1144Ser) c.3217A>T (p.Thr1073Ser) | |
| 11 | g.121586258C>A | CA383027331 | SORL1 | c.3743C>A (p.Thr1248Asn) c.575C>A (p.Thr192Asn) c.281C>A (p.Thr94Asn) c.473C>A (p.Thr158Asn) c.3629C>A (p.Thr1210Asn) c.2204C>A (p.Thr735Asn) c.1103C>A (p.Thr368Asn) c.3431C>A (p.Thr1144Asn) c.3218C>A (p.Thr1073Asn) | |
| 11 | g.121586258C>G | CA383027329 | SORL1 | c.3743C>G (p.Thr1248Ser) c.575C>G (p.Thr192Ser) c.281C>G (p.Thr94Ser) c.473C>G (p.Thr158Ser) c.3629C>G (p.Thr1210Ser) c.2204C>G (p.Thr735Ser) c.1103C>G (p.Thr368Ser) c.3431C>G (p.Thr1144Ser) c.3218C>G (p.Thr1073Ser) | |
| 11 | g.121586258C>T | CA383027333 | SORL1 | c.3743C>T (p.Thr1248Ile) c.575C>T (p.Thr192Ile) c.281C>T (p.Thr94Ile) c.473C>T (p.Thr158Ile) c.3629C>T (p.Thr1210Ile) c.2204C>T (p.Thr735Ile) c.1103C>T (p.Thr368Ile) c.3431C>T (p.Thr1144Ile) c.3218C>T (p.Thr1073Ile) | gnomAD v4 |
| 11 | g.121586259T>A | CA477219517 | SORL1 | c.3744T>A (p.Thr1248=) c.576T>A (p.Thr192=) c.282T>A (p.Thr94=) c.474T>A (p.Thr158=) c.3630T>A (p.Thr1210=) c.2205T>A (p.Thr735=) c.1104T>A (p.Thr368=) c.3432T>A (p.Thr1144=) c.3219T>A (p.Thr1073=) | |
| 11 | g.121586259T>C | CA477219518 | SORL1 | c.3744T>C (p.Thr1248=) c.576T>C (p.Thr192=) c.282T>C (p.Thr94=) c.474T>C (p.Thr158=) c.3630T>C (p.Thr1210=) c.2205T>C (p.Thr735=) c.1104T>C (p.Thr368=) c.3432T>C (p.Thr1144=) c.3219T>C (p.Thr1073=) | |
| 11 | g.121586259T>G | CA477219519 | SORL1 | c.3744T>G (p.Thr1248=) c.576T>G (p.Thr192=) c.282T>G (p.Thr94=) c.474T>G (p.Thr158=) c.3630T>G (p.Thr1210=) c.2205T>G (p.Thr735=) c.1104T>G (p.Thr368=) c.3432T>G (p.Thr1144=) c.3219T>G (p.Thr1073=) | |
| 11 | g.121586260T>A | CA383027335 | SORL1 | c.3745T>A (p.Cys1249Ser) c.577T>A (p.Cys193Ser) c.283T>A (p.Cys95Ser) c.475T>A (p.Cys159Ser) c.3631T>A (p.Cys1211Ser) c.2206T>A (p.Cys736Ser) c.1105T>A (p.Cys369Ser) c.3433T>A (p.Cys1145Ser) c.3220T>A (p.Cys1074Ser) | |
| 11 | g.121586260T>C | CA383027337 | SORL1 | c.3745T>C (p.Cys1249Arg) c.577T>C (p.Cys193Arg) c.283T>C (p.Cys95Arg) c.475T>C (p.Cys159Arg) c.3631T>C (p.Cys1211Arg) c.2206T>C (p.Cys736Arg) c.1105T>C (p.Cys369Arg) c.3433T>C (p.Cys1145Arg) c.3220T>C (p.Cys1074Arg) | COSMIC |
| 11 | g.121586260T>G | CA383027340 | SORL1 | c.3745T>G (p.Cys1249Gly) c.577T>G (p.Cys193Gly) c.283T>G (p.Cys95Gly) c.475T>G (p.Cys159Gly) c.3631T>G (p.Cys1211Gly) c.2206T>G (p.Cys736Gly) c.1105T>G (p.Cys369Gly) c.3433T>G (p.Cys1145Gly) c.3220T>G (p.Cys1074Gly) | |
| 11 | g.121586261G>A | CA383027341 | SORL1 | c.3746G>A (p.Cys1249Tyr) c.578G>A (p.Cys193Tyr) c.284G>A (p.Cys95Tyr) c.476G>A (p.Cys159Tyr) c.3632G>A (p.Cys1211Tyr) c.2207G>A (p.Cys736Tyr) c.1106G>A (p.Cys369Tyr) c.3434G>A (p.Cys1145Tyr) c.3221G>A (p.Cys1074Tyr) | |
| 11 | g.121586261G>C | CA6329391 | SORL1 | c.3746G>C (p.Cys1249Ser) c.578G>C (p.Cys193Ser) c.284G>C (p.Cys95Ser) c.476G>C (p.Cys159Ser) c.3632G>C (p.Cys1211Ser) c.2207G>C (p.Cys736Ser) c.1106G>C (p.Cys369Ser) c.3434G>C (p.Cys1145Ser) c.3221G>C (p.Cys1074Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121586261G= | CA2004951386 | SORL1 | c.3746G= (p.Cys1249=) c.578G= (p.Cys193=) c.284G= (p.Cys95=) c.476G= (p.Cys159=) c.3632G= (p.Cys1211=) c.2207G= (p.Cys736=) c.1106G= (p.Cys369=) c.3434G= (p.Cys1145=) c.3221G= (p.Cys1074=) | |
| 11 | g.121586261G>T | CA383027344 | SORL1 | c.3746G>T (p.Cys1249Phe) c.578G>T (p.Cys193Phe) c.284G>T (p.Cys95Phe) c.476G>T (p.Cys159Phe) c.3632G>T (p.Cys1211Phe) c.2207G>T (p.Cys736Phe) c.1106G>T (p.Cys369Phe) c.3434G>T (p.Cys1145Phe) c.3221G>T (p.Cys1074Phe) | |
| 11 | g.121586262C>A | CA383027348 | SORL1 | c.3747C>A (p.Cys1249Ter) c.579C>A (p.Cys193Ter) c.285C>A (p.Cys95Ter) c.477C>A (p.Cys159Ter) c.3633C>A (p.Cys1211Ter) c.2208C>A (p.Cys736Ter) c.1107C>A (p.Cys369Ter) c.3435C>A (p.Cys1145Ter) c.3222C>A (p.Cys1074Ter) | |
| 11 | g.121586262C>G | CA383027351 | SORL1 | c.3747C>G (p.Cys1249Trp) c.579C>G (p.Cys193Trp) c.285C>G (p.Cys95Trp) c.477C>G (p.Cys159Trp) c.3633C>G (p.Cys1211Trp) c.2208C>G (p.Cys736Trp) c.1107C>G (p.Cys369Trp) c.3435C>G (p.Cys1145Trp) c.3222C>G (p.Cys1074Trp) | |
| 11 | g.121586262C>T | CA477219520 | SORL1 | c.3747C>T (p.Cys1249=) c.579C>T (p.Cys193=) c.285C>T (p.Cys95=) c.477C>T (p.Cys159=) c.3633C>T (p.Cys1211=) c.2208C>T (p.Cys736=) c.1107C>T (p.Cys369=) c.3435C>T (p.Cys1145=) c.3222C>T (p.Cys1074=) | gnomAD v4 |
| 11 | g.121586263A>C | CA383027354 | SORL1 | c.3748A>C (p.Ile1250Leu) c.580A>C (p.Ile194Leu) c.286A>C (p.Ile96Leu) c.478A>C (p.Ile160Leu) c.3634A>C (p.Ile1212Leu) c.2209A>C (p.Ile737Leu) c.1108A>C (p.Ile370Leu) c.3436A>C (p.Ile1146Leu) c.3223A>C (p.Ile1075Leu) | COSMIC |
| 11 | g.121586263A>G | CA383027359 | SORL1 | c.3748A>G (p.Ile1250Val) c.580A>G (p.Ile194Val) c.286A>G (p.Ile96Val) c.478A>G (p.Ile160Val) c.3634A>G (p.Ile1212Val) c.2209A>G (p.Ile737Val) c.1108A>G (p.Ile370Val) c.3436A>G (p.Ile1146Val) c.3223A>G (p.Ile1075Val) | |
| 11 | g.121586263A>T | CA383027356 | SORL1 | c.3748A>T (p.Ile1250Phe) c.580A>T (p.Ile194Phe) c.286A>T (p.Ile96Phe) c.478A>T (p.Ile160Phe) c.3634A>T (p.Ile1212Phe) c.2209A>T (p.Ile737Phe) c.1108A>T (p.Ile370Phe) c.3436A>T (p.Ile1146Phe) c.3223A>T (p.Ile1075Phe) | gnomAD v4 |
| 11 | g.121586264T>A | CA383027364 | SORL1 | c.3749T>A (p.Ile1250Asn) c.581T>A (p.Ile194Asn) c.287T>A (p.Ile96Asn) c.479T>A (p.Ile160Asn) c.3635T>A (p.Ile1212Asn) c.2210T>A (p.Ile737Asn) c.1109T>A (p.Ile370Asn) c.3437T>A (p.Ile1146Asn) c.3224T>A (p.Ile1075Asn) | |
| 11 | g.121586264T>C | CA6329392 | SORL1 | c.3749T>C (p.Ile1250Thr) c.581T>C (p.Ile194Thr) c.287T>C (p.Ile96Thr) c.479T>C (p.Ile160Thr) c.3635T>C (p.Ile1212Thr) c.2210T>C (p.Ile737Thr) c.1109T>C (p.Ile370Thr) c.3437T>C (p.Ile1146Thr) c.3224T>C (p.Ile1075Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.121586264T>G | CA383027377 | SORL1 | c.3749T>G (p.Ile1250Ser) c.581T>G (p.Ile194Ser) c.287T>G (p.Ile96Ser) c.479T>G (p.Ile160Ser) c.3635T>G (p.Ile1212Ser) c.2210T>G (p.Ile737Ser) c.1109T>G (p.Ile370Ser) c.3437T>G (p.Ile1146Ser) c.3224T>G (p.Ile1075Ser) | |
| 11 | g.121586264T= | CA2004951387 | SORL1 | c.3749T= (p.Ile1250=) c.581T= (p.Ile194=) c.287T= (p.Ile96=) c.479T= (p.Ile160=) c.3635T= (p.Ile1212=) c.2210T= (p.Ile737=) c.1109T= (p.Ile370=) c.3437T= (p.Ile1146=) c.3224T= (p.Ile1075=) | |
| 11 | g.121586265C>A | CA477219521 | SORL1 | c.3750C>A (p.Ile1250=) c.582C>A (p.Ile194=) c.288C>A (p.Ile96=) c.480C>A (p.Ile160=) c.3636C>A (p.Ile1212=) c.2211C>A (p.Ile737=) c.1110C>A (p.Ile370=) c.3438C>A (p.Ile1146=) c.3225C>A (p.Ile1075=) | |
| 11 | g.121586265C>G | CA383027380 | SORL1 | c.3750C>G (p.Ile1250Met) c.582C>G (p.Ile194Met) c.288C>G (p.Ile96Met) c.480C>G (p.Ile160Met) c.3636C>G (p.Ile1212Met) c.2211C>G (p.Ile737Met) c.1110C>G (p.Ile370Met) c.3438C>G (p.Ile1146Met) c.3225C>G (p.Ile1075Met) | |
| 11 | g.121586265C>T | CA477219522 | SORL1 | c.3750C>T (p.Ile1250=) c.582C>T (p.Ile194=) c.288C>T (p.Ile96=) c.480C>T (p.Ile160=) c.3636C>T (p.Ile1212=) c.2211C>T (p.Ile737=) c.1110C>T (p.Ile370=) c.3438C>T (p.Ile1146=) c.3225C>T (p.Ile1075=) | |
| 11 | g.121586266C>A | CA383027384 | SORL1 | c.3751C>A (p.Pro1251Thr) c.583C>A (p.Pro195Thr) c.289C>A (p.Pro97Thr) c.481C>A (p.Pro161Thr) c.3637C>A (p.Pro1213Thr) c.2212C>A (p.Pro738Thr) c.1111C>A (p.Pro371Thr) c.3439C>A (p.Pro1147Thr) c.3226C>A (p.Pro1076Thr) | |
| 11 | g.121586266C= | CA2004951388 | SORL1 | c.3751C= (p.Pro1251=) c.583C= (p.Pro195=) c.289C= (p.Pro97=) c.481C= (p.Pro161=) c.3637C= (p.Pro1213=) c.2212C= (p.Pro738=) c.1111C= (p.Pro371=) c.3439C= (p.Pro1147=) c.3226C= (p.Pro1076=) | |
| 11 | g.121586266C>G | CA383027385 | SORL1 | c.3751C>G (p.Pro1251Ala) c.583C>G (p.Pro195Ala) c.289C>G (p.Pro97Ala) c.481C>G (p.Pro161Ala) c.3637C>G (p.Pro1213Ala) c.2212C>G (p.Pro738Ala) c.1111C>G (p.Pro371Ala) c.3439C>G (p.Pro1147Ala) c.3226C>G (p.Pro1076Ala) | |
| 11 | g.121586266C>T | CA6329393 | SORL1 | c.3751C>T (p.Pro1251Ser) c.583C>T (p.Pro195Ser) c.289C>T (p.Pro97Ser) c.481C>T (p.Pro161Ser) c.3637C>T (p.Pro1213Ser) c.2212C>T (p.Pro738Ser) c.1111C>T (p.Pro371Ser) c.3439C>T (p.Pro1147Ser) c.3226C>T (p.Pro1076Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.121586267C>A | CA383027388 | SORL1 | c.3752C>A (p.Pro1251Gln) c.584C>A (p.Pro195Gln) c.290C>A (p.Pro97Gln) c.482C>A (p.Pro161Gln) c.3638C>A (p.Pro1213Gln) c.2213C>A (p.Pro738Gln) c.1112C>A (p.Pro371Gln) c.3440C>A (p.Pro1147Gln) c.3227C>A (p.Pro1076Gln) | |
| 11 | g.121586267C>G | CA383027389 | SORL1 | c.3752C>G (p.Pro1251Arg) c.584C>G (p.Pro195Arg) c.290C>G (p.Pro97Arg) c.482C>G (p.Pro161Arg) c.3638C>G (p.Pro1213Arg) c.2213C>G (p.Pro738Arg) c.1112C>G (p.Pro371Arg) c.3440C>G (p.Pro1147Arg) c.3227C>G (p.Pro1076Arg) |