Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.121586257A>CCA383027327SORL1c.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)
11g.121586257A>GCA383027325SORL1c.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
11g.121586257A>TCA383027322SORL1c.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)
11g.121586258C>ACA383027331SORL1c.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)
11g.121586258C>GCA383027329SORL1c.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)
11g.121586258C>TCA383027333SORL1c.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
11g.121586259T>ACA477219517SORL1c.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=)
11g.121586259T>CCA477219518SORL1c.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=)
11g.121586259T>GCA477219519SORL1c.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=)
11g.121586260T>ACA383027335SORL1c.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)
11g.121586260T>CCA383027337SORL1c.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
11g.121586260T>GCA383027340SORL1c.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)
11g.121586261G>ACA383027341SORL1c.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)
11g.121586261G>CCA6329391SORL1c.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
11g.121586261G=CA2004951386SORL1c.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=)
11g.121586261G>TCA383027344SORL1c.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)
11g.121586262C>ACA383027348SORL1c.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)
11g.121586262C>GCA383027351SORL1c.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)
11g.121586262C>TCA477219520SORL1c.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
11g.121586263A>CCA383027354SORL1c.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
11g.121586263A>GCA383027359SORL1c.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)
11g.121586263A>TCA383027356SORL1c.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
11g.121586264T>ACA383027364SORL1c.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)
11g.121586264T>CCA6329392SORL1c.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
11g.121586264T>GCA383027377SORL1c.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)
11g.121586264T=CA2004951387SORL1c.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=)
11g.121586265C>ACA477219521SORL1c.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=)
11g.121586265C>GCA383027380SORL1c.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)
11g.121586265C>TCA477219522SORL1c.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=)
11g.121586266C>ACA383027384SORL1c.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)
11g.121586266C=CA2004951388SORL1c.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=)
11g.121586266C>GCA383027385SORL1c.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)
11g.121586266C>TCA6329393SORL1c.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
11g.121586267C>ACA383027388SORL1c.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)
11g.121586267C>GCA383027389SORL1c.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)
11g.121586267C>TCA383027393SORL1c.3752C>T (p.Pro1251Leu)
c.584C>T (p.Pro195Leu)
c.290C>T (p.Pro97Leu)
c.482C>T (p.Pro161Leu)
c.3638C>T (p.Pro1213Leu)
c.2213C>T (p.Pro738Leu)
c.1112C>T (p.Pro371Leu)
c.3440C>T (p.Pro1147Leu)
c.3227C>T (p.Pro1076Leu)
11g.121586268A>CCA477219525SORL1c.3753A>C (p.Pro1251=)
c.585A>C (p.Pro195=)
c.291A>C (p.Pro97=)
c.483A>C (p.Pro161=)
c.3639A>C (p.Pro1213=)
c.2214A>C (p.Pro738=)
c.1113A>C (p.Pro371=)
c.3441A>C (p.Pro1147=)
c.3228A>C (p.Pro1076=)
11g.121586268A>GCA477219523SORL1c.3753A>G (p.Pro1251=)
c.585A>G (p.Pro195=)
c.291A>G (p.Pro97=)
c.483A>G (p.Pro161=)
c.3639A>G (p.Pro1213=)
c.2214A>G (p.Pro738=)
c.1113A>G (p.Pro371=)
c.3441A>G (p.Pro1147=)
c.3228A>G (p.Pro1076=)
11g.121586268A>TCA477219524SORL1c.3753A>T (p.Pro1251=)
c.585A>T (p.Pro195=)
c.291A>T (p.Pro97=)
c.483A>T (p.Pro161=)
c.3639A>T (p.Pro1213=)
c.2214A>T (p.Pro738=)
c.1113A>T (p.Pro371=)
c.3441A>T (p.Pro1147=)
c.3228A>T (p.Pro1076=)
11g.121586269T>ACA383027397SORL1c.3754T>A (p.Ser1252Thr)
c.586T>A (p.Ser196Thr)
c.292T>A (p.Ser98Thr)
c.484T>A (p.Ser162Thr)
c.3640T>A (p.Ser1214Thr)
c.2215T>A (p.Ser739Thr)
c.1114T>A (p.Ser372Thr)
c.3442T>A (p.Ser1148Thr)
c.3229T>A (p.Ser1077Thr)
11g.121586269T>CCA383027401SORL1c.3754T>C (p.Ser1252Pro)
c.586T>C (p.Ser196Pro)
c.292T>C (p.Ser98Pro)
c.484T>C (p.Ser162Pro)
c.3640T>C (p.Ser1214Pro)
c.2215T>C (p.Ser739Pro)
c.1114T>C (p.Ser372Pro)
c.3442T>C (p.Ser1148Pro)
c.3229T>C (p.Ser1077Pro)
11g.121586269T>GCA383027404SORL1c.3754T>G (p.Ser1252Ala)
c.586T>G (p.Ser196Ala)
c.292T>G (p.Ser98Ala)
c.484T>G (p.Ser162Ala)
c.3640T>G (p.Ser1214Ala)
c.2215T>G (p.Ser739Ala)
c.1114T>G (p.Ser372Ala)
c.3442T>G (p.Ser1148Ala)
c.3229T>G (p.Ser1077Ala)
11g.121586270C>ACA383027408SORL1c.3755C>A (p.Ser1252Tyr)
c.587C>A (p.Ser196Tyr)
c.293C>A (p.Ser98Tyr)
c.485C>A (p.Ser162Tyr)
c.3641C>A (p.Ser1214Tyr)
c.2216C>A (p.Ser739Tyr)
c.1115C>A (p.Ser372Tyr)
c.3443C>A (p.Ser1148Tyr)
c.3230C>A (p.Ser1077Tyr)
 gnomAD v4
11g.121586270C>GCA383027411SORL1c.3755C>G (p.Ser1252Cys)
c.587C>G (p.Ser196Cys)
c.293C>G (p.Ser98Cys)
c.485C>G (p.Ser162Cys)
c.3641C>G (p.Ser1214Cys)
c.2216C>G (p.Ser739Cys)
c.1115C>G (p.Ser372Cys)
c.3443C>G (p.Ser1148Cys)
c.3230C>G (p.Ser1077Cys)
 gnomAD v4
11g.121586270C>TCA383027415SORL1c.3755C>T (p.Ser1252Phe)
c.587C>T (p.Ser196Phe)
c.293C>T (p.Ser98Phe)
c.485C>T (p.Ser162Phe)
c.3641C>T (p.Ser1214Phe)
c.2216C>T (p.Ser739Phe)
c.1115C>T (p.Ser372Phe)
c.3443C>T (p.Ser1148Phe)
c.3230C>T (p.Ser1077Phe)
11g.121586271C>ACA477219528SORL1c.3756C>A (p.Ser1252=)
c.588C>A (p.Ser196=)
c.294C>A (p.Ser98=)
c.486C>A (p.Ser162=)
c.3642C>A (p.Ser1214=)
c.2217C>A (p.Ser739=)
c.1116C>A (p.Ser372=)
c.3444C>A (p.Ser1148=)
c.3231C>A (p.Ser1077=)
11g.121586271C>GCA477219527SORL1c.3756C>G (p.Ser1252=)
c.588C>G (p.Ser196=)
c.294C>G (p.Ser98=)
c.486C>G (p.Ser162=)
c.3642C>G (p.Ser1214=)
c.2217C>G (p.Ser739=)
c.1116C>G (p.Ser372=)
c.3444C>G (p.Ser1148=)
c.3231C>G (p.Ser1077=)
 gnomAD v4
11g.121586271C>TCA477219526SORL1c.3756C>T (p.Ser1252=)
c.588C>T (p.Ser196=)
c.294C>T (p.Ser98=)
c.486C>T (p.Ser162=)
c.3642C>T (p.Ser1214=)
c.2217C>T (p.Ser739=)
c.1116C>T (p.Ser372=)
c.3444C>T (p.Ser1148=)
c.3231C>T (p.Ser1077=)
11g.121586272A>CCA383027419SORL1c.3757A>C (p.Ser1253Arg)
c.589A>C (p.Ser197Arg)
c.295A>C (p.Ser99Arg)
c.487A>C (p.Ser163Arg)
c.3643A>C (p.Ser1215Arg)
c.2218A>C (p.Ser740Arg)
c.1117A>C (p.Ser373Arg)
c.3445A>C (p.Ser1149Arg)
c.3232A>C (p.Ser1078Arg)
11g.121586272A>GCA383027421SORL1c.3757A>G (p.Ser1253Gly)
c.589A>G (p.Ser197Gly)
c.295A>G (p.Ser99Gly)
c.487A>G (p.Ser163Gly)
c.3643A>G (p.Ser1215Gly)
c.2218A>G (p.Ser740Gly)
c.1117A>G (p.Ser373Gly)
c.3445A>G (p.Ser1149Gly)
c.3232A>G (p.Ser1078Gly)
 gnomAD v4

Number of alleles fetched