Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.121558668A>C | CA383035830 | SORL1 | c.2741A>C (p.His914Pro) n.469A>C n.447A>C c.1202A>C (p.His401Pro) c.101A>C (p.His34Pro) c.2429A>C (p.His810Pro) c.2216A>C (p.His739Pro) | |
11 | g.121558668A>G | CA383035831 | SORL1 | c.2741A>G (p.His914Arg) n.469A>G n.447A>G c.1202A>G (p.His401Arg) c.101A>G (p.His34Arg) c.2429A>G (p.His810Arg) c.2216A>G (p.His739Arg) | dbSNP |
11 | g.121558668A>T | CA383035832 | SORL1 | c.2741A>T (p.His914Leu) n.469A>T n.447A>T c.1202A>T (p.His401Leu) c.101A>T (p.His34Leu) c.2429A>T (p.His810Leu) c.2216A>T (p.His739Leu) | |
11 | g.121558669C>A | CA383035833 | SORL1 | c.2742C>A (p.His914Gln) n.470C>A n.448C>A c.1203C>A (p.His401Gln) c.102C>A (p.His34Gln) c.2430C>A (p.His810Gln) c.2217C>A (p.His739Gln) | |
11 | g.121558669C= | CA2004919317 | SORL1 | c.2742C= (p.His914=) n.470C= n.448C= c.1203C= (p.His401=) c.102C= (p.His34=) c.2430C= (p.His810=) c.2217C= (p.His739=) | |
11 | g.121558669C>G | CA383035834 | SORL1 | c.2742C>G (p.His914Gln) n.470C>G n.448C>G c.1203C>G (p.His401Gln) c.102C>G (p.His34Gln) c.2430C>G (p.His810Gln) c.2217C>G (p.His739Gln) | |
11 | g.121558669C>T | CA477218910 | SORL1 | c.2742C>T (p.His914=) n.470C>T n.448C>T c.1203C>T (p.His401=) c.102C>T (p.His34=) c.2430C>T (p.His810=) c.2217C>T (p.His739=) | dbSNP gnomAD v4 |
11 | g.121558670C>A | CA383035835 | SORL1 | c.2743C>A (p.Leu915Met) n.471C>A n.449C>A c.1204C>A (p.Leu402Met) c.103C>A (p.Leu35Met) c.2431C>A (p.Leu811Met) c.2218C>A (p.Leu740Met) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
11 | g.121558670C= | CA2004919318 | SORL1 | c.2743C= (p.Leu915=) n.471C= n.449C= c.1204C= (p.Leu402=) c.103C= (p.Leu35=) c.2431C= (p.Leu811=) c.2218C= (p.Leu740=) | |
11 | g.121558670C>G | CA383035836 | SORL1 | c.2743C>G (p.Leu915Val) n.471C>G n.449C>G c.1204C>G (p.Leu402Val) c.103C>G (p.Leu35Val) c.2431C>G (p.Leu811Val) c.2218C>G (p.Leu740Val) | |
11 | g.121558670C>T | CA477218911 | SORL1 | c.2743C>T (p.Leu915=) n.471C>T n.449C>T c.1204C>T (p.Leu402=) c.103C>T (p.Leu35=) c.2431C>T (p.Leu811=) c.2218C>T (p.Leu740=) | |
11 | g.121558671T>A | CA383035837 | SORL1 | c.2744T>A (p.Leu915Gln) n.472T>A n.450T>A c.1205T>A (p.Leu402Gln) c.104T>A (p.Leu35Gln) c.2432T>A (p.Leu811Gln) c.2219T>A (p.Leu740Gln) | |
11 | g.121558671T>C | CA383035838 | SORL1 | c.2744T>C (p.Leu915Pro) n.472T>C n.450T>C c.1205T>C (p.Leu402Pro) c.104T>C (p.Leu35Pro) c.2432T>C (p.Leu811Pro) c.2219T>C (p.Leu740Pro) | |
11 | g.121558671T>G | CA383035839 | SORL1 | c.2744T>G (p.Leu915Arg) n.472T>G n.450T>G c.1205T>G (p.Leu402Arg) c.104T>G (p.Leu35Arg) c.2432T>G (p.Leu811Arg) c.2219T>G (p.Leu740Arg) | |
11 | g.121558671T= | CA2004919319 | SORL1 | c.2744T= (p.Leu915=) n.472T= n.450T= c.1205T= (p.Leu402=) c.104T= (p.Leu35=) c.2432T= (p.Leu811=) c.2219T= (p.Leu740=) | |
11 | g.121558672G>A | CA477218914 | SORL1 | c.2745G>A (p.Leu915=) n.473G>A n.451G>A c.1206G>A (p.Leu402=) c.105G>A (p.Leu35=) c.2433G>A (p.Leu811=) c.2220G>A (p.Leu740=) | |
11 | g.121558672G>C | CA477218913 | SORL1 | c.2745G>C (p.Leu915=) n.473G>C n.451G>C c.1206G>C (p.Leu402=) c.105G>C (p.Leu35=) c.2433G>C (p.Leu811=) c.2220G>C (p.Leu740=) | COSMIC |
11 | g.121558672G>T | CA477218912 | SORL1 | c.2745G>T (p.Leu915=) n.473G>T n.451G>T c.1206G>T (p.Leu402=) c.105G>T (p.Leu35=) c.2433G>T (p.Leu811=) c.2220G>T (p.Leu740=) | |
11 | g.121558673dup | CA2004919320 | SORL1 | c.2746dup (p.Val916GlyfsTer3) n.474dup n.452dup c.1207dup (p.Val403GlyfsTer3) c.106dup (p.Val36GlyfsTer3) c.2434dup (p.Val812GlyfsTer3) c.2221dup (p.Val741GlyfsTer3) | dbSNP |
11 | g.121558673G>A | CA383035840 | SORL1 | c.2746G>A (p.Val916Met) n.474G>A n.452G>A c.1207G>A (p.Val403Met) c.106G>A (p.Val36Met) c.2434G>A (p.Val812Met) c.2221G>A (p.Val741Met) | |
11 | g.121558673G>C | CA383035841 | SORL1 | c.2746G>C (p.Val916Leu) n.474G>C n.452G>C c.1207G>C (p.Val403Leu) c.106G>C (p.Val36Leu) c.2434G>C (p.Val812Leu) c.2221G>C (p.Val741Leu) | |
11 | g.121558673G>T | CA383035842 | SORL1 | c.2746G>T (p.Val916Leu) n.474G>T n.452G>T c.1207G>T (p.Val403Leu) c.106G>T (p.Val36Leu) c.2434G>T (p.Val812Leu) c.2221G>T (p.Val741Leu) | |
11 | g.121558674T>A | CA383035845 | SORL1 | c.2747T>A (p.Val916Glu) n.475T>A n.453T>A c.1208T>A (p.Val403Glu) c.107T>A (p.Val36Glu) c.2435T>A (p.Val812Glu) c.2222T>A (p.Val741Glu) | |
11 | g.121558674T>C | CA383035843 | SORL1 | c.2747T>C (p.Val916Ala) n.475T>C n.453T>C c.1208T>C (p.Val403Ala) c.107T>C (p.Val36Ala) c.2435T>C (p.Val812Ala) c.2222T>C (p.Val741Ala) | |
11 | g.121558674T>G | CA383035844 | SORL1 | c.2747T>G (p.Val916Gly) n.475T>G n.453T>G c.1208T>G (p.Val403Gly) c.107T>G (p.Val36Gly) c.2435T>G (p.Val812Gly) c.2222T>G (p.Val741Gly) | dbSNP |
11 | g.121558674T= | CA2004919321 | SORL1 | c.2747T= (p.Val916=) n.475T= n.453T= c.1208T= (p.Val403=) c.107T= (p.Val36=) c.2435T= (p.Val812=) c.2222T= (p.Val741=) | |
11 | g.121558675G>A | CA477218915 | SORL1 | c.2748G>A (p.Val916=) n.476G>A n.454G>A c.1209G>A (p.Val403=) c.108G>A (p.Val36=) c.2436G>A (p.Val812=) c.2223G>A (p.Val741=) | gnomAD v4 |
11 | g.121558675G>C | CA477218917 | SORL1 | c.2748G>C (p.Val916=) n.476G>C n.454G>C c.1209G>C (p.Val403=) c.108G>C (p.Val36=) c.2436G>C (p.Val812=) c.2223G>C (p.Val741=) | |
11 | g.121558675G>T | CA477218916 | SORL1 | c.2748G>T (p.Val916=) n.476G>T n.454G>T c.1209G>T (p.Val403=) c.108G>T (p.Val36=) c.2436G>T (p.Val812=) c.2223G>T (p.Val741=) | |
11 | g.121558676T>A | CA383035846 | SORL1 | c.2749T>A (p.Ser917Thr) n.477T>A n.455T>A c.1210T>A (p.Ser404Thr) c.109T>A (p.Ser37Thr) c.2437T>A (p.Ser813Thr) c.2224T>A (p.Ser742Thr) | |
11 | g.121558676T>C | CA383035847 | SORL1 | c.2749T>C (p.Ser917Pro) n.477T>C n.455T>C c.1210T>C (p.Ser404Pro) c.109T>C (p.Ser37Pro) c.2437T>C (p.Ser813Pro) c.2224T>C (p.Ser742Pro) | |
11 | g.121558676T>G | CA383035848 | SORL1 | c.2749T>G (p.Ser917Ala) n.477T>G n.455T>G c.1210T>G (p.Ser404Ala) c.109T>G (p.Ser37Ala) c.2437T>G (p.Ser813Ala) c.2224T>G (p.Ser742Ala) | |
11 | g.121558677C>A | CA383035849 | SORL1 | c.2750C>A (p.Ser917Tyr) n.478C>A n.456C>A c.1211C>A (p.Ser404Tyr) c.110C>A (p.Ser37Tyr) c.2438C>A (p.Ser813Tyr) c.2225C>A (p.Ser742Tyr) | |
11 | g.121558677C>G | CA383035850 | SORL1 | c.2750C>G (p.Ser917Cys) n.478C>G n.456C>G c.1211C>G (p.Ser404Cys) c.110C>G (p.Ser37Cys) c.2438C>G (p.Ser813Cys) c.2225C>G (p.Ser742Cys) | |
11 | g.121558677C>T | CA383035851 | SORL1 | c.2750C>T (p.Ser917Phe) n.478C>T n.456C>T c.1211C>T (p.Ser404Phe) c.110C>T (p.Ser37Phe) c.2438C>T (p.Ser813Phe) c.2225C>T (p.Ser742Phe) | |
11 | g.121558678T>A | CA477218918 | SORL1 | c.2751T>A (p.Ser917=) n.479T>A n.457T>A c.1212T>A (p.Ser404=) c.111T>A (p.Ser37=) c.2439T>A (p.Ser813=) c.2226T>A (p.Ser742=) | dbSNP gnomAD v4 |
11 | g.121558678T>C | CA477218919 | SORL1 | c.2751T>C (p.Ser917=) n.479T>C n.457T>C c.1212T>C (p.Ser404=) c.111T>C (p.Ser37=) c.2439T>C (p.Ser813=) c.2226T>C (p.Ser742=) | |
11 | g.121558678T>G | CA477218920 | SORL1 | c.2751T>G (p.Ser917=) n.479T>G n.457T>G c.1212T>G (p.Ser404=) c.111T>G (p.Ser37=) c.2439T>G (p.Ser813=) c.2226T>G (p.Ser742=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.121558678T= | CA2004919322 | SORL1 | c.2751T= (p.Ser917=) n.479T= n.457T= c.1212T= (p.Ser404=) c.111T= (p.Ser37=) c.2439T= (p.Ser813=) c.2226T= (p.Ser742=) | |
11 | g.121558679G>A | CA383035852 | SORL1 | c.2752G>A (p.Glu918Lys) n.480G>A n.458G>A c.1213G>A (p.Glu405Lys) c.112G>A (p.Glu38Lys) c.2440G>A (p.Glu814Lys) c.2227G>A (p.Glu743Lys) | ClinVar gnomAD v4 |
11 | g.121558679G>C | CA383035853 | SORL1 | c.2752G>C (p.Glu918Gln) n.480G>C n.458G>C c.1213G>C (p.Glu405Gln) c.112G>C (p.Glu38Gln) c.2440G>C (p.Glu814Gln) c.2227G>C (p.Glu743Gln) | |
11 | g.121558679G>T | CA383035854 | SORL1 | c.2752G>T (p.Glu918Ter) n.480G>T n.458G>T c.1213G>T (p.Glu405Ter) c.112G>T (p.Glu38Ter) c.2440G>T (p.Glu814Ter) c.2227G>T (p.Glu743Ter) | |
11 | g.121558680A>C | CA383035855 | SORL1 | c.2753A>C (p.Glu918Ala) n.481A>C n.459A>C c.1214A>C (p.Glu405Ala) c.113A>C (p.Glu38Ala) c.2441A>C (p.Glu814Ala) c.2228A>C (p.Glu743Ala) | |
11 | g.121558680A>G | CA383035856 | SORL1 | c.2753A>G (p.Glu918Gly) n.481A>G n.459A>G c.1214A>G (p.Glu405Gly) c.113A>G (p.Glu38Gly) c.2441A>G (p.Glu814Gly) c.2228A>G (p.Glu743Gly) | |
11 | g.121558680A>T | CA383035857 | SORL1 | c.2753A>T (p.Glu918Val) n.481A>T n.459A>T c.1214A>T (p.Glu405Val) c.113A>T (p.Glu38Val) c.2441A>T (p.Glu814Val) c.2228A>T (p.Glu743Val) | |
11 | g.121558681G>A | CA6329053 | SORL1 | c.2754G>A (p.Glu918=) n.482G>A n.460G>A c.1215G>A (p.Glu405=) c.114G>A (p.Glu38=) c.2442G>A (p.Glu814=) c.2229G>A (p.Glu743=) | dbSNP ExAC gnomAD v2 |
11 | g.121558681G>C | CA383035859 | SORL1 | c.2754G>C (p.Glu918Asp) n.482G>C n.460G>C c.1215G>C (p.Glu405Asp) c.114G>C (p.Glu38Asp) c.2442G>C (p.Glu814Asp) c.2229G>C (p.Glu743Asp) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.121558681G= | CA2004919323 | SORL1 | c.2754G= (p.Glu918=) n.482G= n.460G= c.1215G= (p.Glu405=) c.114G= (p.Glu38=) c.2442G= (p.Glu814=) c.2229G= (p.Glu743=) | |
11 | g.121558681G>T | CA383035858 | SORL1 | c.2754G>T (p.Glu918Asp) n.482G>T n.460G>T c.1215G>T (p.Glu405Asp) c.114G>T (p.Glu38Asp) c.2442G>T (p.Glu814Asp) c.2229G>T (p.Glu743Asp) | |
11 | g.121558682G>A | CA383035860 | SORL1 | c.2755G>A (p.Asp919Asn) n.483G>A n.461G>A c.1216G>A (p.Asp406Asn) c.115G>A (p.Asp39Asn) c.2443G>A (p.Asp815Asn) c.2230G>A (p.Asp744Asn) | |
11 | g.121558682G>C | CA383035862 | SORL1 | c.2755G>C (p.Asp919His) n.483G>C n.461G>C c.1216G>C (p.Asp406His) c.115G>C (p.Asp39His) c.2443G>C (p.Asp815His) c.2230G>C (p.Asp744His) | |
11 | g.121558682G>T | CA383035861 | SORL1 | c.2755G>T (p.Asp919Tyr) n.483G>T n.461G>T c.1216G>T (p.Asp406Tyr) c.115G>T (p.Asp39Tyr) c.2443G>T (p.Asp815Tyr) c.2230G>T (p.Asp744Tyr) | |
11 | g.121558683A>C | CA383035863 | SORL1 | c.2756A>C (p.Asp919Ala) n.484A>C n.462A>C c.1217A>C (p.Asp406Ala) c.116A>C (p.Asp39Ala) c.2444A>C (p.Asp815Ala) c.2231A>C (p.Asp744Ala) | |
11 | g.121558683A>G | CA383035864 | SORL1 | c.2756A>G (p.Asp919Gly) n.484A>G n.462A>G c.1217A>G (p.Asp406Gly) c.116A>G (p.Asp39Gly) c.2444A>G (p.Asp815Gly) c.2231A>G (p.Asp744Gly) | |
11 | g.121558683A>T | CA383035865 | SORL1 | c.2756A>T (p.Asp919Val) n.484A>T n.462A>T c.1217A>T (p.Asp406Val) c.116A>T (p.Asp39Val) c.2444A>T (p.Asp815Val) c.2231A>T (p.Asp744Val) | |
11 | g.121558684T>A | CA383035866 | SORL1 | c.2757T>A (p.Asp919Glu) n.485T>A n.463T>A c.1218T>A (p.Asp406Glu) c.117T>A (p.Asp39Glu) c.2445T>A (p.Asp815Glu) c.2232T>A (p.Asp744Glu) | dbSNP |
11 | g.121558684T>C | CA477218921 | SORL1 | c.2757T>C (p.Asp919=) n.485T>C n.463T>C c.1218T>C (p.Asp406=) c.117T>C (p.Asp39=) c.2445T>C (p.Asp815=) c.2232T>C (p.Asp744=) | |
11 | g.121558684T>G | CA383035867 | SORL1 | c.2757T>G (p.Asp919Glu) n.485T>G n.463T>G c.1218T>G (p.Asp406Glu) c.117T>G (p.Asp39Glu) c.2445T>G (p.Asp815Glu) c.2232T>G (p.Asp744Glu) | |
11 | g.121558684T= | CA2004919324 | SORL1 | c.2757T= (p.Asp919=) n.485T= n.463T= c.1218T= (p.Asp406=) c.117T= (p.Asp39=) c.2445T= (p.Asp815=) c.2232T= (p.Asp744=) | |
11 | g.121558685G>A | CA383035868 | SORL1 | c.2758G>A (p.Val920Met) n.486G>A n.464G>A c.1219G>A (p.Val407Met) c.118G>A (p.Val40Met) c.2446G>A (p.Val816Met) c.2233G>A (p.Val745Met) | |
11 | g.121558685G>C | CA383035869 | SORL1 | c.2758G>C (p.Val920Leu) n.486G>C n.464G>C c.1219G>C (p.Val407Leu) c.118G>C (p.Val40Leu) c.2446G>C (p.Val816Leu) c.2233G>C (p.Val745Leu) | |
11 | g.121558685G>T | CA383035870 | SORL1 | c.2758G>T (p.Val920Leu) n.486G>T n.464G>T c.1219G>T (p.Val407Leu) c.118G>T (p.Val40Leu) c.2446G>T (p.Val816Leu) c.2233G>T (p.Val745Leu) | |
11 | g.121558686T>A | CA383035871 | SORL1 | c.2759T>A (p.Val920Glu) n.487T>A n.465T>A c.1220T>A (p.Val407Glu) c.119T>A (p.Val40Glu) c.2447T>A (p.Val816Glu) c.2234T>A (p.Val745Glu) | |
11 | g.121558686T>C | CA383035872 | SORL1 | c.2759T>C (p.Val920Ala) n.487T>C n.465T>C c.1220T>C (p.Val407Ala) c.119T>C (p.Val40Ala) c.2447T>C (p.Val816Ala) c.2234T>C (p.Val745Ala) | |
11 | g.121558686T>G | CA383035873 | SORL1 | c.2759T>G (p.Val920Gly) n.487T>G n.465T>G c.1220T>G (p.Val407Gly) c.119T>G (p.Val40Gly) c.2447T>G (p.Val816Gly) c.2234T>G (p.Val745Gly) | |
11 | g.121558687G>A | CA477218922 | SORL1 | c.2760G>A (p.Val920=) n.488G>A n.466G>A c.1221G>A (p.Val407=) c.120G>A (p.Val40=) c.2448G>A (p.Val816=) c.2235G>A (p.Val745=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.121558687G>C | CA477218923 | SORL1 | c.2760G>C (p.Val920=) n.488G>C n.466G>C c.1221G>C (p.Val407=) c.120G>C (p.Val40=) c.2448G>C (p.Val816=) c.2235G>C (p.Val745=) | |
11 | g.121558687G= | CA2004919325 | SORL1 | c.2760G= (p.Val920=) n.488G= n.466G= c.1221G= (p.Val407=) c.120G= (p.Val40=) c.2448G= (p.Val816=) c.2235G= (p.Val745=) | |
11 | g.121558687G>T | CA6329054 | SORL1 | c.2760G>T (p.Val920=) n.488G>T n.466G>T c.1221G>T (p.Val407=) c.120G>T (p.Val40=) c.2448G>T (p.Val816=) c.2235G>T (p.Val745=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.121558688A>C | CA383035876 | SORL1 | c.2761A>C (p.Lys921Gln) n.489A>C n.467A>C c.1222A>C (p.Lys408Gln) c.121A>C (p.Lys41Gln) c.2449A>C (p.Lys817Gln) c.2236A>C (p.Lys746Gln) | |
11 | g.121558688A>G | CA383035874 | SORL1 | c.2761A>G (p.Lys921Glu) n.489A>G n.467A>G c.1222A>G (p.Lys408Glu) c.121A>G (p.Lys41Glu) c.2449A>G (p.Lys817Glu) c.2236A>G (p.Lys746Glu) | |
11 | g.121558688A>T | CA383035875 | SORL1 | c.2761A>T (p.Lys921Ter) n.489A>T n.467A>T c.1222A>T (p.Lys408Ter) c.121A>T (p.Lys41Ter) c.2449A>T (p.Lys817Ter) c.2236A>T (p.Lys746Ter) | COSMIC |
11 | g.121558689A= | CA2004919326 | SORL1 | c.2762A= (p.Lys921=) n.490A= n.468A= c.1223A= (p.Lys408=) c.122A= (p.Lys41=) c.2450A= (p.Lys817=) c.2237A= (p.Lys746=) | |
11 | g.121558689A>C | CA383035877 | SORL1 | c.2762A>C (p.Lys921Thr) n.490A>C n.468A>C c.1223A>C (p.Lys408Thr) c.122A>C (p.Lys41Thr) c.2450A>C (p.Lys817Thr) c.2237A>C (p.Lys746Thr) | dbSNP gnomAD v4 |
11 | g.121558689A>G | CA383035878 | SORL1 | c.2762A>G (p.Lys921Arg) n.490A>G n.468A>G c.1223A>G (p.Lys408Arg) c.122A>G (p.Lys41Arg) c.2450A>G (p.Lys817Arg) c.2237A>G (p.Lys746Arg) | |
11 | g.121558689A>T | CA383035879 | SORL1 | c.2762A>T (p.Lys921Met) n.490A>T n.468A>T c.1223A>T (p.Lys408Met) c.122A>T (p.Lys41Met) c.2450A>T (p.Lys817Met) c.2237A>T (p.Lys746Met) | |
11 | g.121558690G>A | CA477218924 | SORL1 | c.2763G>A (p.Lys921=) n.491G>A n.469G>A c.1224G>A (p.Lys408=) c.123G>A (p.Lys41=) c.2451G>A (p.Lys817=) c.2238G>A (p.Lys746=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.121558690G>C | CA383035880 | SORL1 | c.2763G>C (p.Lys921Asn) n.491G>C n.469G>C c.1224G>C (p.Lys408Asn) c.123G>C (p.Lys41Asn) c.2451G>C (p.Lys817Asn) c.2238G>C (p.Lys746Asn) | |
11 | g.121558690G>T | CA383035881 | SORL1 | c.2763G>T (p.Lys921Asn) n.491G>T n.469G>T c.1224G>T (p.Lys408Asn) c.123G>T (p.Lys41Asn) c.2451G>T (p.Lys817Asn) c.2238G>T (p.Lys746Asn) | |
11 | g.121558691T>A | CA383035882 | SORL1 | c.2764T>A (p.Trp922Arg) n.492T>A n.470T>A c.1225T>A (p.Trp409Arg) c.124T>A (p.Trp42Arg) c.2452T>A (p.Trp818Arg) c.2239T>A (p.Trp747Arg) | |
11 | g.121558691T>C | CA383035883 | SORL1 | c.2764T>C (p.Trp922Arg) n.492T>C n.470T>C c.1225T>C (p.Trp409Arg) c.124T>C (p.Trp42Arg) c.2452T>C (p.Trp818Arg) c.2239T>C (p.Trp747Arg) | |
11 | g.121558691T>G | CA383035884 | SORL1 | c.2764T>G (p.Trp922Gly) n.492T>G n.470T>G c.1225T>G (p.Trp409Gly) c.124T>G (p.Trp42Gly) c.2452T>G (p.Trp818Gly) c.2239T>G (p.Trp747Gly) | |
11 | g.121558692G>A | CA383035885 | SORL1 | c.2765G>A (p.Trp922Ter) n.493G>A n.471G>A c.1226G>A (p.Trp409Ter) c.125G>A (p.Trp42Ter) c.2453G>A (p.Trp818Ter) c.2240G>A (p.Trp747Ter) | gnomAD v4 |
11 | g.121558692G>C | CA383035886 | SORL1 | c.2765G>C (p.Trp922Ser) n.493G>C n.471G>C c.1226G>C (p.Trp409Ser) c.125G>C (p.Trp42Ser) c.2453G>C (p.Trp818Ser) c.2240G>C (p.Trp747Ser) | |
11 | g.121558692G>T | CA383035887 | SORL1 | c.2765G>T (p.Trp922Leu) n.493G>T n.471G>T c.1226G>T (p.Trp409Leu) c.125G>T (p.Trp42Leu) c.2453G>T (p.Trp818Leu) c.2240G>T (p.Trp747Leu) | |
11 | g.121558693G>A | CA383035890 | SORL1 | c.2766G>A (p.Trp922Ter) n.494G>A n.472G>A c.1227G>A (p.Trp409Ter) c.126G>A (p.Trp42Ter) c.2454G>A (p.Trp818Ter) c.2241G>A (p.Trp747Ter) | COSMIC |
11 | g.121558693G>C | CA383035889 | SORL1 | c.2766G>C (p.Trp922Cys) n.494G>C n.472G>C c.1227G>C (p.Trp409Cys) c.126G>C (p.Trp42Cys) c.2454G>C (p.Trp818Cys) c.2241G>C (p.Trp747Cys) | gnomAD v4 |
11 | g.121558693G>T | CA383035888 | SORL1 | c.2766G>T (p.Trp922Cys) n.494G>T n.472G>T c.1227G>T (p.Trp409Cys) c.126G>T (p.Trp42Cys) c.2454G>T (p.Trp818Cys) c.2241G>T (p.Trp747Cys) | |
11 | g.121558694C>A | CA383035891 | SORL1 | c.2767C>A (p.Pro923Thr) n.495C>A n.473C>A c.1228C>A (p.Pro410Thr) c.127C>A (p.Pro43Thr) c.2455C>A (p.Pro819Thr) c.2242C>A (p.Pro748Thr) | |
11 | g.121558694C>G | CA383035892 | SORL1 | c.2767C>G (p.Pro923Ala) n.495C>G n.473C>G c.1228C>G (p.Pro410Ala) c.127C>G (p.Pro43Ala) c.2455C>G (p.Pro819Ala) c.2242C>G (p.Pro748Ala) | gnomAD v4 |
11 | g.121558694C>T | CA383035893 | SORL1 | c.2767C>T (p.Pro923Ser) n.495C>T n.473C>T c.1228C>T (p.Pro410Ser) c.127C>T (p.Pro43Ser) c.2455C>T (p.Pro819Ser) c.2242C>T (p.Pro748Ser) | |
11 | g.121558695C>A | CA383035894 | SORL1 | c.2768C>A (p.Pro923His) n.496C>A n.474C>A c.1229C>A (p.Pro410His) c.128C>A (p.Pro43His) c.2456C>A (p.Pro819His) c.2243C>A (p.Pro748His) | |
11 | g.121558695C>G | CA383035895 | SORL1 | c.2768C>G (p.Pro923Arg) n.496C>G n.474C>G c.1229C>G (p.Pro410Arg) c.128C>G (p.Pro43Arg) c.2456C>G (p.Pro819Arg) c.2243C>G (p.Pro748Arg) | |
11 | g.121558695C>T | CA383035896 | SORL1 | c.2768C>T (p.Pro923Leu) n.496C>T n.474C>T c.1229C>T (p.Pro410Leu) c.128C>T (p.Pro43Leu) c.2456C>T (p.Pro819Leu) c.2243C>T (p.Pro748Leu) | |
11 | g.121558696C>A | CA477218927 | SORL1 | c.2769C>A (p.Pro923=) n.497C>A n.475C>A c.1230C>A (p.Pro410=) c.129C>A (p.Pro43=) c.2457C>A (p.Pro819=) c.2244C>A (p.Pro748=) | |
11 | g.121558696C>G | CA477218925 | SORL1 | c.2769C>G (p.Pro923=) n.497C>G n.475C>G c.1230C>G (p.Pro410=) c.129C>G (p.Pro43=) c.2457C>G (p.Pro819=) c.2244C>G (p.Pro748=) | |
11 | g.121558696C>T | CA477218926 | SORL1 | c.2769C>T (p.Pro923=) n.497C>T n.475C>T c.1230C>T (p.Pro410=) c.129C>T (p.Pro43=) c.2457C>T (p.Pro819=) c.2244C>T (p.Pro748=) | |
11 | g.121558697A= | CA2004919327 | SORL1 | c.2770A= (p.Asn924=) n.498A= n.476A= c.1231A= (p.Asn411=) c.130A= (p.Asn44=) c.2458A= (p.Asn820=) c.2245A= (p.Asn749=) | |
11 | g.121558697A>C | CA383035899 | SORL1 | c.2770A>C (p.Asn924His) n.498A>C n.476A>C c.1231A>C (p.Asn411His) c.130A>C (p.Asn44His) c.2458A>C (p.Asn820His) c.2245A>C (p.Asn749His) | |
11 | g.121558697A>G | CA383035897 | SORL1 | c.2770A>G (p.Asn924Asp) n.498A>G n.476A>G c.1231A>G (p.Asn411Asp) c.130A>G (p.Asn44Asp) c.2458A>G (p.Asn820Asp) c.2245A>G (p.Asn749Asp) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.121558697A>T | CA383035898 | SORL1 | c.2770A>T (p.Asn924Tyr) n.498A>T n.476A>T c.1231A>T (p.Asn411Tyr) c.130A>T (p.Asn44Tyr) c.2458A>T (p.Asn820Tyr) c.2245A>T (p.Asn749Tyr) | |
11 | g.121558698A= | CA2004919328 | SORL1 | c.2771A= (p.Asn924=) n.499A= n.477A= c.1232A= (p.Asn411=) c.131A= (p.Asn44=) c.2459A= (p.Asn820=) c.2246A= (p.Asn749=) | |
11 | g.121558698A>C | CA383035900 | SORL1 | c.2771A>C (p.Asn924Thr) n.499A>C n.477A>C c.1232A>C (p.Asn411Thr) c.131A>C (p.Asn44Thr) c.2459A>C (p.Asn820Thr) c.2246A>C (p.Asn749Thr) | |
11 | g.121558698A>G | CA6329055 | SORL1 | c.2771A>G (p.Asn924Ser) n.499A>G n.477A>G c.1232A>G (p.Asn411Ser) c.131A>G (p.Asn44Ser) c.2459A>G (p.Asn820Ser) c.2246A>G (p.Asn749Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121558698A>T | CA383035901 | SORL1 | c.2771A>T (p.Asn924Ile) n.499A>T n.477A>T c.1232A>T (p.Asn411Ile) c.131A>T (p.Asn44Ile) c.2459A>T (p.Asn820Ile) c.2246A>T (p.Asn749Ile) | |
11 | g.121558699T>A | CA383035902 | SORL1 | c.2772T>A (p.Asn924Lys) n.500T>A n.478T>A c.1233T>A (p.Asn411Lys) c.132T>A (p.Asn44Lys) c.2460T>A (p.Asn820Lys) c.2247T>A (p.Asn749Lys) | |
11 | g.121558699T>C | CA477218928 | SORL1 | c.2772T>C (p.Asn924=) n.500T>C n.478T>C c.1233T>C (p.Asn411=) c.132T>C (p.Asn44=) c.2460T>C (p.Asn820=) c.2247T>C (p.Asn749=) | |
11 | g.121558699T>G | CA383035903 | SORL1 | c.2772T>G (p.Asn924Lys) n.500T>G n.478T>G c.1233T>G (p.Asn411Lys) c.132T>G (p.Asn44Lys) c.2460T>G (p.Asn820Lys) c.2247T>G (p.Asn749Lys) | |
11 | g.121558700G>A | CA383035904 | SORL1 | c.2773G>A (p.Gly925Ser) n.501G>A n.479G>A c.1234G>A (p.Gly412Ser) c.133G>A (p.Gly45Ser) c.2461G>A (p.Gly821Ser) c.2248G>A (p.Gly750Ser) | |
11 | g.121558700G>C | CA383035906 | SORL1 | c.2773G>C (p.Gly925Arg) n.501G>C n.479G>C c.1234G>C (p.Gly412Arg) c.133G>C (p.Gly45Arg) c.2461G>C (p.Gly821Arg) c.2248G>C (p.Gly750Arg) | |
11 | g.121558700G>T | CA383035905 | SORL1 | c.2773G>T (p.Gly925Cys) n.501G>T n.479G>T c.1234G>T (p.Gly412Cys) c.133G>T (p.Gly45Cys) c.2461G>T (p.Gly821Cys) c.2248G>T (p.Gly750Cys) | |
11 | g.121558701G>A | CA383035907 | SORL1 | c.2774G>A (p.Gly925Asp) n.502G>A n.480G>A c.1235G>A (p.Gly412Asp) c.134G>A (p.Gly45Asp) c.2462G>A (p.Gly821Asp) c.2249G>A (p.Gly750Asp) | COSMIC |
11 | g.121558701G>C | CA383035908 | SORL1 | c.2774G>C (p.Gly925Ala) n.502G>C n.480G>C c.1235G>C (p.Gly412Ala) c.134G>C (p.Gly45Ala) c.2462G>C (p.Gly821Ala) c.2249G>C (p.Gly750Ala) | |
11 | g.121558701G>T | CA383035909 | SORL1 | c.2774G>T (p.Gly925Val) n.502G>T n.480G>T c.1235G>T (p.Gly412Val) c.134G>T (p.Gly45Val) c.2462G>T (p.Gly821Val) c.2249G>T (p.Gly750Val) | |
11 | g.121558702C>A | CA477218930 | SORL1 | c.2775C>A (p.Gly925=) n.503C>A n.481C>A c.1236C>A (p.Gly412=) c.135C>A (p.Gly45=) c.2463C>A (p.Gly821=) c.2250C>A (p.Gly750=) | |
11 | g.121558702C= | CA2004919329 | SORL1 | c.2775C= (p.Gly925=) n.503C= n.481C= c.1236C= (p.Gly412=) c.135C= (p.Gly45=) c.2463C= (p.Gly821=) c.2250C= (p.Gly750=) | |
11 | g.121558702C>G | CA477218929 | SORL1 | c.2775C>G (p.Gly925=) n.503C>G n.481C>G c.1236C>G (p.Gly412=) c.135C>G (p.Gly45=) c.2463C>G (p.Gly821=) c.2250C>G (p.Gly750=) | |
11 | g.121558702C>T | CA477218931 | SORL1 | c.2775C>T (p.Gly925=) n.503C>T n.481C>T c.1236C>T (p.Gly412=) c.135C>T (p.Gly45=) c.2463C>T (p.Gly821=) c.2250C>T (p.Gly750=) | dbSNP |
11 | g.121558703A>C | CA383035910 | SORL1 | c.2776A>C (p.Ile926Leu) n.504A>C n.482A>C c.1237A>C (p.Ile413Leu) c.136A>C (p.Ile46Leu) c.2464A>C (p.Ile822Leu) c.2251A>C (p.Ile751Leu) | |
11 | g.121558703A>G | CA383035911 | SORL1 | c.2776A>G (p.Ile926Val) n.504A>G n.482A>G c.1237A>G (p.Ile413Val) c.136A>G (p.Ile46Val) c.2464A>G (p.Ile822Val) c.2251A>G (p.Ile751Val) | gnomAD v4 |
11 | g.121558703A>T | CA383035912 | SORL1 | c.2776A>T (p.Ile926Phe) n.504A>T n.482A>T c.1237A>T (p.Ile413Phe) c.136A>T (p.Ile46Phe) c.2464A>T (p.Ile822Phe) c.2251A>T (p.Ile751Phe) | |
11 | g.121558704T>A | CA383035913 | SORL1 | c.2777T>A (p.Ile926Asn) n.505T>A n.483T>A c.1238T>A (p.Ile413Asn) c.137T>A (p.Ile46Asn) c.2465T>A (p.Ile822Asn) c.2252T>A (p.Ile751Asn) | |
11 | g.121558704T>C | CA383035914 | SORL1 | c.2777T>C (p.Ile926Thr) n.505T>C n.483T>C c.1238T>C (p.Ile413Thr) c.137T>C (p.Ile46Thr) c.2465T>C (p.Ile822Thr) c.2252T>C (p.Ile751Thr) | |
11 | g.121558704T>G | CA383035915 | SORL1 | c.2777T>G (p.Ile926Ser) n.505T>G n.483T>G c.1238T>G (p.Ile413Ser) c.137T>G (p.Ile46Ser) c.2465T>G (p.Ile822Ser) c.2252T>G (p.Ile751Ser) | |
11 | g.121558705C>A | CA477218932 | SORL1 | c.2778C>A (p.Ile926=) n.506C>A n.484C>A c.1239C>A (p.Ile413=) c.138C>A (p.Ile46=) c.2466C>A (p.Ile822=) c.2253C>A (p.Ile751=) | |
11 | g.121558705C= | CA2004919330 | SORL1 | c.2778C= (p.Ile926=) n.506C= n.484C= c.1239C= (p.Ile413=) c.138C= (p.Ile46=) c.2466C= (p.Ile822=) c.2253C= (p.Ile751=) | |
11 | g.121558705C>G | CA383035916 | SORL1 | c.2778C>G (p.Ile926Met) n.506C>G n.484C>G c.1239C>G (p.Ile413Met) c.138C>G (p.Ile46Met) c.2466C>G (p.Ile822Met) c.2253C>G (p.Ile751Met) | |
11 | g.121558705C>T | CA6329056 | SORL1 | c.2778C>T (p.Ile926=) n.506C>T n.484C>T c.1239C>T (p.Ile413=) c.138C>T (p.Ile46=) c.2466C>T (p.Ile822=) c.2253C>T (p.Ile751=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121558706T>A | CA383035919 | SORL1 | c.2779T>A (p.Ser927Thr) n.507T>A n.485T>A c.1240T>A (p.Ser414Thr) c.139T>A (p.Ser47Thr) c.2467T>A (p.Ser823Thr) c.2254T>A (p.Ser752Thr) | |
11 | g.121558706T>C | CA383035917 | SORL1 | c.2779T>C (p.Ser927Pro) n.507T>C n.485T>C c.1240T>C (p.Ser414Pro) c.139T>C (p.Ser47Pro) c.2467T>C (p.Ser823Pro) c.2254T>C (p.Ser752Pro) | |
11 | g.121558706T>G | CA383035918 | SORL1 | c.2779T>G (p.Ser927Ala) n.507T>G n.485T>G c.1240T>G (p.Ser414Ala) c.139T>G (p.Ser47Ala) c.2467T>G (p.Ser823Ala) c.2254T>G (p.Ser752Ala) | |
11 | g.121558707C>A | CA383035920 | SORL1 | c.2780C>A (p.Ser927Tyr) n.508C>A n.486C>A c.1241C>A (p.Ser414Tyr) c.140C>A (p.Ser47Tyr) c.2468C>A (p.Ser823Tyr) c.2255C>A (p.Ser752Tyr) | |
11 | g.121558707C>G | CA383035922 | SORL1 | c.2780C>G (p.Ser927Cys) n.508C>G n.486C>G c.1241C>G (p.Ser414Cys) c.140C>G (p.Ser47Cys) c.2468C>G (p.Ser823Cys) c.2255C>G (p.Ser752Cys) | |
11 | g.121558707C>T | CA383035921 | SORL1 | c.2780C>T (p.Ser927Phe) n.508C>T n.486C>T c.1241C>T (p.Ser414Phe) c.140C>T (p.Ser47Phe) c.2468C>T (p.Ser823Phe) c.2255C>T (p.Ser752Phe) | |
11 | g.121558708T>A | CA477218933 | SORL1 | c.2781T>A (p.Ser927=) n.509T>A n.487T>A c.1242T>A (p.Ser414=) c.141T>A (p.Ser47=) c.2469T>A (p.Ser823=) c.2256T>A (p.Ser752=) | |
11 | g.121558708T>C | CA477218935 | SORL1 | c.2781T>C (p.Ser927=) n.509T>C n.487T>C c.1242T>C (p.Ser414=) c.141T>C (p.Ser47=) c.2469T>C (p.Ser823=) c.2256T>C (p.Ser752=) | |
11 | g.121558708T>G | CA477218934 | SORL1 | c.2781T>G (p.Ser927=) n.509T>G n.487T>G c.1242T>G (p.Ser414=) c.141T>G (p.Ser47=) c.2469T>G (p.Ser823=) c.2256T>G (p.Ser752=) | |
11 | g.121558709G>A | CA383035923 | SORL1 | c.2782G>A (p.Val928Met) n.510G>A n.488G>A c.1243G>A (p.Val415Met) c.142G>A (p.Val48Met) c.2470G>A (p.Val824Met) c.2257G>A (p.Val753Met) | dbSNP gnomAD v4 |
11 | g.121558709G>C | CA383035924 | SORL1 | c.2782G>C (p.Val928Leu) n.510G>C n.488G>C c.1243G>C (p.Val415Leu) c.142G>C (p.Val48Leu) c.2470G>C (p.Val824Leu) c.2257G>C (p.Val753Leu) | |
11 | g.121558709G= | CA2004919331 | SORL1 | c.2782G= (p.Val928=) n.510G= n.488G= c.1243G= (p.Val415=) c.142G= (p.Val48=) c.2470G= (p.Val824=) c.2257G= (p.Val753=) | |
11 | g.121558709G>T | CA383035925 | SORL1 | c.2782G>T (p.Val928Leu) n.510G>T n.488G>T c.1243G>T (p.Val415Leu) c.142G>T (p.Val48Leu) c.2470G>T (p.Val824Leu) c.2257G>T (p.Val753Leu) | |
11 | g.121558710T>A | CA383035926 | SORL1 | c.2783T>A (p.Val928Glu) n.511T>A n.489T>A c.1244T>A (p.Val415Glu) c.143T>A (p.Val48Glu) c.2471T>A (p.Val824Glu) c.2258T>A (p.Val753Glu) | |
11 | g.121558710T>C | CA383035927 | SORL1 | c.2783T>C (p.Val928Ala) n.511T>C n.489T>C c.1244T>C (p.Val415Ala) c.143T>C (p.Val48Ala) c.2471T>C (p.Val824Ala) c.2258T>C (p.Val753Ala) | |
11 | g.121558710T>G | CA383035928 | SORL1 | c.2783T>G (p.Val928Gly) n.511T>G n.489T>G c.1244T>G (p.Val415Gly) c.143T>G (p.Val48Gly) c.2471T>G (p.Val824Gly) c.2258T>G (p.Val753Gly) | |
11 | g.121558711G>A | CA477218936 | SORL1 | c.2784G>A (p.Val928=) n.512G>A n.490G>A c.1245G>A (p.Val415=) c.144G>A (p.Val48=) c.2472G>A (p.Val824=) c.2259G>A (p.Val753=) | dbSNP |
11 | g.121558711G>C | CA477218937 | SORL1 | c.2784G>C (p.Val928=) n.512G>C n.490G>C c.1245G>C (p.Val415=) c.144G>C (p.Val48=) c.2472G>C (p.Val824=) c.2259G>C (p.Val753=) | |
11 | g.121558711G= | CA2004919332 | SORL1 | c.2784G= (p.Val928=) n.512G= n.490G= c.1245G= (p.Val415=) c.144G= (p.Val48=) c.2472G= (p.Val824=) c.2259G= (p.Val753=) | |
11 | g.121558711G>T | CA477218938 | SORL1 | c.2784G>T (p.Val928=) n.512G>T n.490G>T c.1245G>T (p.Val415=) c.144G>T (p.Val48=) c.2472G>T (p.Val824=) c.2259G>T (p.Val753=) | |
11 | g.121558712G>A | CA383035929 | SORL1 | c.2785G>A (p.Asp929Asn) n.513G>A n.491G>A c.1246G>A (p.Asp416Asn) c.145G>A (p.Asp49Asn) c.2473G>A (p.Asp825Asn) c.2260G>A (p.Asp754Asn) | |
11 | g.121558712G>C | CA383035930 | SORL1 | c.2785G>C (p.Asp929His) n.513G>C n.491G>C c.1246G>C (p.Asp416His) c.145G>C (p.Asp49His) c.2473G>C (p.Asp825His) c.2260G>C (p.Asp754His) | |
11 | g.121558712G= | CA2004919333 | SORL1 | c.2785G= (p.Asp929=) n.513G= n.491G= c.1246G= (p.Asp416=) c.145G= (p.Asp49=) c.2473G= (p.Asp825=) c.2260G= (p.Asp754=) | |
11 | g.121558712G>T | CA6329057 | SORL1 | c.2785G>T (p.Asp929Tyr) n.513G>T n.491G>T c.1246G>T (p.Asp416Tyr) c.145G>T (p.Asp49Tyr) c.2473G>T (p.Asp825Tyr) c.2260G>T (p.Asp754Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121558713A>C | CA383035931 | SORL1 | c.2786A>C (p.Asp929Ala) n.514A>C n.492A>C c.1247A>C (p.Asp416Ala) c.146A>C (p.Asp49Ala) c.2474A>C (p.Asp825Ala) c.2261A>C (p.Asp754Ala) | |
11 | g.121558713A>G | CA383035932 | SORL1 | c.2786A>G (p.Asp929Gly) n.514A>G n.492A>G c.1247A>G (p.Asp416Gly) c.146A>G (p.Asp49Gly) c.2474A>G (p.Asp825Gly) c.2261A>G (p.Asp754Gly) | gnomAD v4 |
11 | g.121558713A>T | CA383035933 | SORL1 | c.2786A>T (p.Asp929Val) n.514A>T n.492A>T c.1247A>T (p.Asp416Val) c.146A>T (p.Asp49Val) c.2474A>T (p.Asp825Val) c.2261A>T (p.Asp754Val) | |
11 | g.121558714C>A | CA383035935 | SORL1 | c.2787C>A (p.Asp929Glu) n.515C>A n.493C>A c.1248C>A (p.Asp416Glu) c.147C>A (p.Asp49Glu) c.2475C>A (p.Asp825Glu) c.2262C>A (p.Asp754Glu) | |
11 | g.121558714C= | CA2004919334 | SORL1 | c.2787C= (p.Asp929=) n.515C= n.493C= c.1248C= (p.Asp416=) c.147C= (p.Asp49=) c.2475C= (p.Asp825=) c.2262C= (p.Asp754=) | |
11 | g.121558714C>G | CA383035934 | SORL1 | c.2787C>G (p.Asp929Glu) n.515C>G n.493C>G c.1248C>G (p.Asp416Glu) c.147C>G (p.Asp49Glu) c.2475C>G (p.Asp825Glu) c.2262C>G (p.Asp754Glu) | |
11 | g.121558714C>T | CA6329058 | SORL1 | c.2787C>T (p.Asp929=) n.515C>T n.493C>T c.1248C>T (p.Asp416=) c.147C>T (p.Asp49=) c.2475C>T (p.Asp825=) c.2262C>T (p.Asp754=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121558715G>A | CA6329059 | SORL1 | c.2788G>A (p.Asp930Asn) n.516G>A n.494G>A c.1249G>A (p.Asp417Asn) c.148G>A (p.Asp50Asn) c.2476G>A (p.Asp826Asn) c.2263G>A (p.Asp755Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
11 | g.121558715G>C | CA383035936 | SORL1 | c.2788G>C (p.Asp930His) n.516G>C n.494G>C c.1249G>C (p.Asp417His) c.148G>C (p.Asp50His) c.2476G>C (p.Asp826His) c.2263G>C (p.Asp755His) | |
11 | g.121558715G= | CA2004919335 | SORL1 | c.2788G= (p.Asp930=) n.516G= n.494G= c.1249G= (p.Asp417=) c.148G= (p.Asp50=) c.2476G= (p.Asp826=) c.2263G= (p.Asp755=) | |
11 | g.121558715G>T | CA383035937 | SORL1 | c.2788G>T (p.Asp930Tyr) n.516G>T n.494G>T c.1249G>T (p.Asp417Tyr) c.148G>T (p.Asp50Tyr) c.2476G>T (p.Asp826Tyr) c.2263G>T (p.Asp755Tyr) | |
11 | g.121558716A>C | CA383035938 | SORL1 | c.2789A>C (p.Asp930Ala) n.517A>C n.495A>C c.1250A>C (p.Asp417Ala) c.149A>C (p.Asp50Ala) c.2477A>C (p.Asp826Ala) c.2264A>C (p.Asp755Ala) | gnomAD v4 |
11 | g.121558716A>G | CA383035939 | SORL1 | c.2789A>G (p.Asp930Gly) n.517A>G n.495A>G c.1250A>G (p.Asp417Gly) c.149A>G (p.Asp50Gly) c.2477A>G (p.Asp826Gly) c.2264A>G (p.Asp755Gly) | |
11 | g.121558716A>T | CA383035940 | SORL1 | c.2789A>T (p.Asp930Val) n.517A>T n.495A>T c.1250A>T (p.Asp417Val) c.149A>T (p.Asp50Val) c.2477A>T (p.Asp826Val) c.2264A>T (p.Asp755Val) | |
11 | g.121558717C>A | CA383035941 | SORL1 | c.2790C>A (p.Asp930Glu) n.518C>A n.496C>A c.1251C>A (p.Asp417Glu) c.150C>A (p.Asp50Glu) c.2478C>A (p.Asp826Glu) c.2265C>A (p.Asp755Glu) | |
11 | g.121558717C>G | CA383035942 | SORL1 | c.2790C>G (p.Asp930Glu) n.518C>G n.496C>G c.1251C>G (p.Asp417Glu) c.150C>G (p.Asp50Glu) c.2478C>G (p.Asp826Glu) c.2265C>G (p.Asp755Glu) | |
11 | g.121558717C>T | CA477218939 | SORL1 | c.2790C>T (p.Asp930=) n.518C>T n.496C>T c.1251C>T (p.Asp417=) c.150C>T (p.Asp50=) c.2478C>T (p.Asp826=) c.2265C>T (p.Asp755=) | |
11 | g.121558718C>A | CA383035943 | SORL1 | c.2791C>A (p.Gln931Lys) n.519C>A n.497C>A c.1252C>A (p.Gln418Lys) c.151C>A (p.Gln51Lys) c.2479C>A (p.Gln827Lys) c.2266C>A (p.Gln756Lys) | |
11 | g.121558718C>G | CA383035944 | SORL1 | c.2791C>G (p.Gln931Glu) n.519C>G n.497C>G c.1252C>G (p.Gln418Glu) c.151C>G (p.Gln51Glu) c.2479C>G (p.Gln827Glu) c.2266C>G (p.Gln756Glu) | |
11 | g.121558718C>T | CA383035945 | SORL1 | c.2791C>T (p.Gln931Ter) n.519C>T n.497C>T c.1252C>T (p.Gln418Ter) c.151C>T (p.Gln51Ter) c.2479C>T (p.Gln827Ter) c.2266C>T (p.Gln756Ter) | |
11 | g.121558719A= | CA2004919336 | SORL1 | c.2792A= (p.Gln931=) n.520A= n.498A= c.1253A= (p.Gln418=) c.152A= (p.Gln51=) c.2480A= (p.Gln827=) c.2267A= (p.Gln756=) | |
11 | g.121558719A>C | CA383035947 | SORL1 | c.2792A>C (p.Gln931Pro) n.520A>C n.498A>C c.1253A>C (p.Gln418Pro) c.152A>C (p.Gln51Pro) c.2480A>C (p.Gln827Pro) c.2267A>C (p.Gln756Pro) | |
11 | g.121558719A>G | CA229902868 | SORL1 | c.2792A>G (p.Gln931Arg) n.520A>G n.498A>G c.1253A>G (p.Gln418Arg) c.152A>G (p.Gln51Arg) c.2480A>G (p.Gln827Arg) c.2267A>G (p.Gln756Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121558719A>T | CA383035946 | SORL1 | c.2792A>T (p.Gln931Leu) n.520A>T n.498A>T c.1253A>T (p.Gln418Leu) c.152A>T (p.Gln51Leu) c.2480A>T (p.Gln827Leu) c.2267A>T (p.Gln756Leu) | |
11 | g.121558720G>A | CA477218940 | SORL1 | c.2793G>A (p.Gln931=) n.521G>A n.499G>A c.1254G>A (p.Gln418=) c.153G>A (p.Gln51=) c.2481G>A (p.Gln827=) c.2268G>A (p.Gln756=) | |
11 | g.121558720G>C | CA383035949 | SORL1 | c.2793G>C (p.Gln931His) n.521G>C n.499G>C c.1254G>C (p.Gln418His) c.153G>C (p.Gln51His) c.2481G>C (p.Gln827His) c.2268G>C (p.Gln756His) | |
11 | g.121558720G>T | CA383035948 | SORL1 | c.2793G>T (p.Gln931His) n.521G>T n.499G>T c.1254G>T (p.Gln418His) c.153G>T (p.Gln51His) c.2481G>T (p.Gln827His) c.2268G>T (p.Gln756His) | gnomAD v4 |
11 | g.121558721T>A | CA383035950 | SORL1 | c.2794T>A (p.Trp932Arg) n.522T>A n.500T>A c.1255T>A (p.Trp419Arg) c.154T>A (p.Trp52Arg) c.2482T>A (p.Trp828Arg) c.2269T>A (p.Trp757Arg) | |
11 | g.121558721T>C | CA383035951 | SORL1 | c.2794T>C (p.Trp932Arg) n.522T>C n.500T>C c.1255T>C (p.Trp419Arg) c.154T>C (p.Trp52Arg) c.2482T>C (p.Trp828Arg) c.2269T>C (p.Trp757Arg) | dbSNP |
11 | g.121558721T>G | CA383035952 | SORL1 | c.2794T>G (p.Trp932Gly) n.522T>G n.500T>G c.1255T>G (p.Trp419Gly) c.154T>G (p.Trp52Gly) c.2482T>G (p.Trp828Gly) c.2269T>G (p.Trp757Gly) | |
11 | g.121558721T= | CA2004919337 | SORL1 | c.2794T= (p.Trp932=) n.522T= n.500T= c.1255T= (p.Trp419=) c.154T= (p.Trp52=) c.2482T= (p.Trp828=) c.2269T= (p.Trp757=) | |
11 | g.121558722G>A | CA383035953 | SORL1 | c.2795G>A (p.Trp932Ter) n.523G>A n.501G>A c.1256G>A (p.Trp419Ter) c.155G>A (p.Trp52Ter) c.2483G>A (p.Trp828Ter) c.2270G>A (p.Trp757Ter) | COSMIC |
11 | g.121558722G>C | CA383035954 | SORL1 | c.2795G>C (p.Trp932Ser) n.523G>C n.501G>C c.1256G>C (p.Trp419Ser) c.155G>C (p.Trp52Ser) c.2483G>C (p.Trp828Ser) c.2270G>C (p.Trp757Ser) | |
11 | g.121558722G>T | CA383035955 | SORL1 | c.2795G>T (p.Trp932Leu) n.523G>T n.501G>T c.1256G>T (p.Trp419Leu) c.155G>T (p.Trp52Leu) c.2483G>T (p.Trp828Leu) c.2270G>T (p.Trp757Leu) | |
11 | g.121558723G>A | CA383035956 | SORL1 | c.2796G>A (p.Trp932Ter) n.524G>A n.502G>A c.1257G>A (p.Trp419Ter) c.156G>A (p.Trp52Ter) c.2484G>A (p.Trp828Ter) c.2271G>A (p.Trp757Ter) | COSMIC |
11 | g.121558723G>C | CA383035957 | SORL1 | c.2796G>C (p.Trp932Cys) n.524G>C n.502G>C c.1257G>C (p.Trp419Cys) c.156G>C (p.Trp52Cys) c.2484G>C (p.Trp828Cys) c.2271G>C (p.Trp757Cys) | |
11 | g.121558723G= | CA2004919338 | SORL1 | c.2796G= (p.Trp932=) n.524G= n.502G= c.1257G= (p.Trp419=) c.156G= (p.Trp52=) c.2484G= (p.Trp828=) c.2271G= (p.Trp757=) | |
11 | g.121558723G>T | CA6329060 | SORL1 | c.2796G>T (p.Trp932Cys) n.524G>T n.502G>T c.1257G>T (p.Trp419Cys) c.156G>T (p.Trp52Cys) c.2484G>T (p.Trp828Cys) c.2271G>T (p.Trp757Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121558724A>C | CA383035958 | SORL1 | c.2797A>C (p.Ile933Leu) n.525A>C n.503A>C c.1258A>C (p.Ile420Leu) c.157A>C (p.Ile53Leu) c.2485A>C (p.Ile829Leu) c.2272A>C (p.Ile758Leu) | |
11 | g.121558724A>G | CA383035959 | SORL1 | c.2797A>G (p.Ile933Val) n.525A>G n.503A>G c.1258A>G (p.Ile420Val) c.157A>G (p.Ile53Val) c.2485A>G (p.Ile829Val) c.2272A>G (p.Ile758Val) | gnomAD v4 |
11 | g.121558724A>T | CA383035960 | SORL1 | c.2797A>T (p.Ile933Phe) n.525A>T n.503A>T c.1258A>T (p.Ile420Phe) c.157A>T (p.Ile53Phe) c.2485A>T (p.Ile829Phe) c.2272A>T (p.Ile758Phe) | |
11 | g.121558725T>A | CA383035963 | SORL1 | c.2798T>A (p.Ile933Asn) n.526T>A n.504T>A c.1259T>A (p.Ile420Asn) c.158T>A (p.Ile53Asn) c.2486T>A (p.Ile829Asn) c.2273T>A (p.Ile758Asn) | |
11 | g.121558725T>C | CA383035961 | SORL1 | c.2798T>C (p.Ile933Thr) n.526T>C n.504T>C c.1259T>C (p.Ile420Thr) c.158T>C (p.Ile53Thr) c.2486T>C (p.Ile829Thr) c.2273T>C (p.Ile758Thr) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.121558725T>G | CA383035962 | SORL1 | c.2798T>G (p.Ile933Ser) n.526T>G n.504T>G c.1259T>G (p.Ile420Ser) c.158T>G (p.Ile53Ser) c.2486T>G (p.Ile829Ser) c.2273T>G (p.Ile758Ser) | |
11 | g.121558725T= | CA2004919339 | SORL1 | c.2798T= (p.Ile933=) n.526T= n.504T= c.1259T= (p.Ile420=) c.158T= (p.Ile53=) c.2486T= (p.Ile829=) c.2273T= (p.Ile758=) | |
11 | g.121558726T>A | CA477218941 | SORL1 | c.2799T>A (p.Ile933=) n.527T>A n.505T>A c.1260T>A (p.Ile420=) c.159T>A (p.Ile53=) c.2487T>A (p.Ile829=) c.2274T>A (p.Ile758=) | |
11 | g.121558726T>C | CA477218942 | SORL1 | c.2799T>C (p.Ile933=) n.527T>C n.505T>C c.1260T>C (p.Ile420=) c.159T>C (p.Ile53=) c.2487T>C (p.Ile829=) c.2274T>C (p.Ile758=) | |
11 | g.121558726T>G | CA383035964 | SORL1 | c.2799T>G (p.Ile933Met) n.527T>G n.505T>G c.1260T>G (p.Ile420Met) c.159T>G (p.Ile53Met) c.2487T>G (p.Ile829Met) c.2274T>G (p.Ile758Met) | |
11 | g.121558727T>A | CA383035965 | SORL1 | c.2800T>A (p.Tyr934Asn) n.528T>A n.506T>A c.1261T>A (p.Tyr421Asn) c.160T>A (p.Tyr54Asn) c.2488T>A (p.Tyr830Asn) c.2275T>A (p.Tyr759Asn) | |
11 | g.121558727T>C | CA383035966 | SORL1 | c.2800T>C (p.Tyr934His) n.528T>C n.506T>C c.1261T>C (p.Tyr421His) c.160T>C (p.Tyr54His) c.2488T>C (p.Tyr830His) c.2275T>C (p.Tyr759His) | |
11 | g.121558727T>G | CA383035967 | SORL1 | c.2800T>G (p.Tyr934Asp) n.528T>G n.506T>G c.1261T>G (p.Tyr421Asp) c.160T>G (p.Tyr54Asp) c.2488T>G (p.Tyr830Asp) c.2275T>G (p.Tyr759Asp) | COSMIC |
11 | g.121558728A= | CA2004919340 | SORL1 | c.2801A= (p.Tyr934=) n.529A= n.507A= c.1262A= (p.Tyr421=) c.161A= (p.Tyr54=) c.2489A= (p.Tyr830=) c.2276A= (p.Tyr759=) | |
11 | g.121558728A>C | CA383035968 | SORL1 | c.2801A>C (p.Tyr934Ser) n.529A>C n.507A>C c.1262A>C (p.Tyr421Ser) c.161A>C (p.Tyr54Ser) c.2489A>C (p.Tyr830Ser) c.2276A>C (p.Tyr759Ser) | |
11 | g.121558728A>G | CA383035969 | SORL1 | c.2801A>G (p.Tyr934Cys) n.529A>G n.507A>G c.1262A>G (p.Tyr421Cys) c.161A>G (p.Tyr54Cys) c.2489A>G (p.Tyr830Cys) c.2276A>G (p.Tyr759Cys) | dbSNP gnomAD v2 |
11 | g.121558728A>T | CA383035970 | SORL1 | c.2801A>T (p.Tyr934Phe) n.529A>T n.507A>T c.1262A>T (p.Tyr421Phe) c.161A>T (p.Tyr54Phe) c.2489A>T (p.Tyr830Phe) c.2276A>T (p.Tyr759Phe) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.121558729C>A | CA383035971 | SORL1 | c.2802C>A (p.Tyr934Ter) n.530C>A n.508C>A c.1263C>A (p.Tyr421Ter) c.162C>A (p.Tyr54Ter) c.2490C>A (p.Tyr830Ter) c.2277C>A (p.Tyr759Ter) | |
11 | g.121558729C= | CA2004919341 | SORL1 | c.2802C= (p.Tyr934=) n.530C= n.508C= c.1263C= (p.Tyr421=) c.162C= (p.Tyr54=) c.2490C= (p.Tyr830=) c.2277C= (p.Tyr759=) | |
11 | g.121558729C>G | CA383035972 | SORL1 | c.2802C>G (p.Tyr934Ter) n.530C>G n.508C>G c.1263C>G (p.Tyr421Ter) c.162C>G (p.Tyr54Ter) c.2490C>G (p.Tyr830Ter) c.2277C>G (p.Tyr759Ter) | gnomAD v4 |
11 | g.121558729C>T | CA6329061 | SORL1 | c.2802C>T (p.Tyr934=) n.530C>T n.508C>T c.1263C>T (p.Tyr421=) c.162C>T (p.Tyr54=) c.2490C>T (p.Tyr830=) c.2277C>T (p.Tyr759=) | dbSNP ExAC gnomAD v2 |
11 | g.121558730T>A | CA383035973 | SORL1 | c.2803T>A (p.Trp935Arg) n.531T>A n.509T>A c.1264T>A (p.Trp422Arg) c.163T>A (p.Trp55Arg) c.2491T>A (p.Trp831Arg) c.2278T>A (p.Trp760Arg) | |
11 | g.121558730T>C | CA383035974 | SORL1 | c.2803T>C (p.Trp935Arg) n.531T>C n.509T>C c.1264T>C (p.Trp422Arg) c.163T>C (p.Trp55Arg) c.2491T>C (p.Trp831Arg) c.2278T>C (p.Trp760Arg) | dbSNP |
11 | g.121558730T>G | CA383035975 | SORL1 | c.2803T>G (p.Trp935Gly) n.531T>G n.509T>G c.1264T>G (p.Trp422Gly) c.163T>G (p.Trp55Gly) c.2491T>G (p.Trp831Gly) c.2278T>G (p.Trp760Gly) | dbSNP |
11 | g.121558730T= | CA2004919342 | SORL1 | c.2803T= (p.Trp935=) n.531T= n.509T= c.1264T= (p.Trp422=) c.163T= (p.Trp55=) c.2491T= (p.Trp831=) c.2278T= (p.Trp760=) | |
11 | g.121558731G>A | CA383035978 | SORL1 | c.2804G>A (p.Trp935Ter) n.532G>A n.510G>A c.1265G>A (p.Trp422Ter) c.164G>A (p.Trp55Ter) c.2492G>A (p.Trp831Ter) c.2279G>A (p.Trp760Ter) | COSMIC |
11 | g.121558731G>C | CA383035977 | SORL1 | c.2804G>C (p.Trp935Ser) n.532G>C n.510G>C c.1265G>C (p.Trp422Ser) c.164G>C (p.Trp55Ser) c.2492G>C (p.Trp831Ser) c.2279G>C (p.Trp760Ser) | |
11 | g.121558731G>T | CA383035976 | SORL1 | c.2804G>T (p.Trp935Leu) n.532G>T n.510G>T c.1265G>T (p.Trp422Leu) c.164G>T (p.Trp55Leu) c.2492G>T (p.Trp831Leu) c.2279G>T (p.Trp760Leu) | |
11 | g.121558732G>A | CA383035979 | SORL1 | c.2805G>A (p.Trp935Ter) n.533G>A n.511G>A c.1266G>A (p.Trp422Ter) c.165G>A (p.Trp55Ter) c.2493G>A (p.Trp831Ter) c.2280G>A (p.Trp760Ter) | |
11 | g.121558732G>C | CA383035981 | SORL1 | c.2805G>C (p.Trp935Cys) n.533G>C n.511G>C c.1266G>C (p.Trp422Cys) c.165G>C (p.Trp55Cys) c.2493G>C (p.Trp831Cys) c.2280G>C (p.Trp760Cys) | |
11 | g.121558732G>T | CA383035980 | SORL1 | c.2805G>T (p.Trp935Cys) n.533G>T n.511G>T c.1266G>T (p.Trp422Cys) c.165G>T (p.Trp55Cys) c.2493G>T (p.Trp831Cys) c.2280G>T (p.Trp760Cys) | |
11 | g.121558733A>C | CA383035982 | SORL1 | c.2806A>C (p.Thr936Pro) n.534A>C n.512A>C c.1267A>C (p.Thr423Pro) c.166A>C (p.Thr56Pro) c.2494A>C (p.Thr832Pro) c.2281A>C (p.Thr761Pro) | |
11 | g.121558733A>G | CA383035983 | SORL1 | c.2806A>G (p.Thr936Ala) n.534A>G n.512A>G c.1267A>G (p.Thr423Ala) c.166A>G (p.Thr56Ala) c.2494A>G (p.Thr832Ala) c.2281A>G (p.Thr761Ala) | |
11 | g.121558733A>T | CA383035984 | SORL1 | c.2806A>T (p.Thr936Ser) n.534A>T n.512A>T c.1267A>T (p.Thr423Ser) c.166A>T (p.Thr56Ser) c.2494A>T (p.Thr832Ser) c.2281A>T (p.Thr761Ser) | |
11 | g.121558734C>A | CA383035985 | SORL1 | c.2807C>A (p.Thr936Lys) n.535C>A n.513C>A c.1268C>A (p.Thr423Lys) c.167C>A (p.Thr56Lys) c.2495C>A (p.Thr832Lys) c.2282C>A (p.Thr761Lys) | |
11 | g.121558734C= | CA2004919343 | SORL1 | c.2807C= (p.Thr936=) n.535C= n.513C= c.1268C= (p.Thr423=) c.167C= (p.Thr56=) c.2495C= (p.Thr832=) c.2282C= (p.Thr761=) | |
11 | g.121558734C>G | CA383035986 | SORL1 | c.2807C>G (p.Thr936Arg) n.535C>G n.513C>G c.1268C>G (p.Thr423Arg) c.167C>G (p.Thr56Arg) c.2495C>G (p.Thr832Arg) c.2282C>G (p.Thr761Arg) | |
11 | g.121558734C>T | CA6329062 | SORL1 | c.2807C>T (p.Thr936Met) n.535C>T n.513C>T c.1268C>T (p.Thr423Met) c.167C>T (p.Thr56Met) c.2495C>T (p.Thr832Met) c.2282C>T (p.Thr761Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121558735G>A | CA6329063 | SORL1 | c.2808G>A (p.Thr936=) n.536G>A n.514G>A c.1269G>A (p.Thr423=) c.168G>A (p.Thr56=) c.2496G>A (p.Thr832=) c.2283G>A (p.Thr761=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121558735G>C | CA477218943 | SORL1 | c.2808G>C (p.Thr936=) n.536G>C n.514G>C c.1269G>C (p.Thr423=) c.168G>C (p.Thr56=) c.2496G>C (p.Thr832=) c.2283G>C (p.Thr761=) | gnomAD v4 |
11 | g.121558735G= | CA2004919344 | SORL1 | c.2808G= (p.Thr936=) n.536G= n.514G= c.1269G= (p.Thr423=) c.168G= (p.Thr56=) c.2496G= (p.Thr832=) c.2283G= (p.Thr761=) | |
11 | g.121558735G>T | CA477218944 | SORL1 | c.2808G>T (p.Thr936=) n.536G>T n.514G>T c.1269G>T (p.Thr423=) c.168G>T (p.Thr56=) c.2496G>T (p.Thr832=) c.2283G>T (p.Thr761=) | |
11 | g.121558736G>A | CA383035987 | SORL1 | c.2809G>A (p.Asp937Asn) n.537G>A n.515G>A c.1270G>A (p.Asp424Asn) c.169G>A (p.Asp57Asn) c.2497G>A (p.Asp833Asn) c.2284G>A (p.Asp762Asn) | dbSNP gnomAD v4 |
11 | g.121558736G>C | CA383035988 | SORL1 | c.2809G>C (p.Asp937His) n.537G>C n.515G>C c.1270G>C (p.Asp424His) c.169G>C (p.Asp57His) c.2497G>C (p.Asp833His) c.2284G>C (p.Asp762His) | |
11 | g.121558736G= | CA2004919345 | SORL1 | c.2809G= (p.Asp937=) n.537G= n.515G= c.1270G= (p.Asp424=) c.169G= (p.Asp57=) c.2497G= (p.Asp833=) c.2284G= (p.Asp762=) | |
11 | g.121558736G>T | CA383035989 | SORL1 | c.2809G>T (p.Asp937Tyr) n.537G>T n.515G>T c.1270G>T (p.Asp424Tyr) c.169G>T (p.Asp57Tyr) c.2497G>T (p.Asp833Tyr) c.2284G>T (p.Asp762Tyr) | |
11 | g.121558737A>C | CA383035990 | SORL1 | c.2810A>C (p.Asp937Ala) n.538A>C n.516A>C c.1271A>C (p.Asp424Ala) c.170A>C (p.Asp57Ala) c.2498A>C (p.Asp833Ala) c.2285A>C (p.Asp762Ala) | |
11 | g.121558737A>G | CA383035991 | SORL1 | c.2810A>G (p.Asp937Gly) n.538A>G n.516A>G c.1271A>G (p.Asp424Gly) c.170A>G (p.Asp57Gly) c.2498A>G (p.Asp833Gly) c.2285A>G (p.Asp762Gly) | |
11 | g.121558737A>T | CA383035992 | SORL1 | c.2810A>T (p.Asp937Val) n.538A>T n.516A>T c.1271A>T (p.Asp424Val) c.170A>T (p.Asp57Val) c.2498A>T (p.Asp833Val) c.2285A>T (p.Asp762Val) | |
11 | g.121558738T>A | CA383035993 | SORL1 | c.2811T>A (p.Asp937Glu) n.539T>A n.517T>A c.1272T>A (p.Asp424Glu) c.171T>A (p.Asp57Glu) c.2499T>A (p.Asp833Glu) c.2286T>A (p.Asp762Glu) | |
11 | g.121558738T>C | CA477218945 | SORL1 | c.2811T>C (p.Asp937=) n.539T>C n.517T>C c.1272T>C (p.Asp424=) c.171T>C (p.Asp57=) c.2499T>C (p.Asp833=) c.2286T>C (p.Asp762=) | dbSNP COSMIC |
11 | g.121558738T>G | CA383035994 | SORL1 | c.2811T>G (p.Asp937Glu) n.539T>G n.517T>G c.1272T>G (p.Asp424Glu) c.171T>G (p.Asp57Glu) c.2499T>G (p.Asp833Glu) c.2286T>G (p.Asp762Glu) | |
11 | g.121558738T= | CA2004919346 | SORL1 | c.2811T= (p.Asp937=) n.539T= n.517T= c.1272T= (p.Asp424=) c.171T= (p.Asp57=) c.2499T= (p.Asp833=) c.2286T= (p.Asp762=) | |
11 | g.121558739G>A | CA383035995 | SORL1 | c.2812G>A (p.Ala938Thr) n.540G>A n.518G>A c.1273G>A (p.Ala425Thr) c.172G>A (p.Ala58Thr) c.2500G>A (p.Ala834Thr) c.2287G>A (p.Ala763Thr) | dbSNP |
11 | g.121558739G>C | CA383035996 | SORL1 | c.2812G>C (p.Ala938Pro) n.540G>C n.518G>C c.1273G>C (p.Ala425Pro) c.172G>C (p.Ala58Pro) c.2500G>C (p.Ala834Pro) c.2287G>C (p.Ala763Pro) | |
11 | g.121558739G= | CA2004919347 | SORL1 | c.2812G= (p.Ala938=) n.540G= n.518G= c.1273G= (p.Ala425=) c.172G= (p.Ala58=) c.2500G= (p.Ala834=) c.2287G= (p.Ala763=) | |
11 | g.121558739G>T | CA383035997 | SORL1 | c.2812G>T (p.Ala938Ser) n.540G>T n.518G>T c.1273G>T (p.Ala425Ser) c.172G>T (p.Ala58Ser) c.2500G>T (p.Ala834Ser) c.2287G>T (p.Ala763Ser) | |
11 | g.121558740C>A | CA383035998 | SORL1 | c.2813C>A (p.Ala938Asp) n.541C>A n.519C>A c.1274C>A (p.Ala425Asp) c.173C>A (p.Ala58Asp) c.2501C>A (p.Ala834Asp) c.2288C>A (p.Ala763Asp) | |
11 | g.121558740C= | CA2004919348 | SORL1 | c.2813C= (p.Ala938=) n.541C= n.519C= c.1274C= (p.Ala425=) c.173C= (p.Ala58=) c.2501C= (p.Ala834=) c.2288C= (p.Ala763=) | |
11 | g.121558740C>G | CA383035999 | SORL1 | c.2813C>G (p.Ala938Gly) n.541C>G n.519C>G c.1274C>G (p.Ala425Gly) c.173C>G (p.Ala58Gly) c.2501C>G (p.Ala834Gly) c.2288C>G (p.Ala763Gly) | |
11 | g.121558740C>T | CA383036000 | SORL1 | c.2813C>T (p.Ala938Val) n.541C>T n.519C>T c.1274C>T (p.Ala425Val) c.173C>T (p.Ala58Val) c.2501C>T (p.Ala834Val) c.2288C>T (p.Ala763Val) | dbSNP |
11 | g.121558741C>A | CA477218946 | SORL1 | c.2814C>A (p.Ala938=) n.542C>A n.520C>A c.1275C>A (p.Ala425=) c.174C>A (p.Ala58=) c.2502C>A (p.Ala834=) c.2289C>A (p.Ala763=) | |
11 | g.121558741C>G | CA477218947 | SORL1 | c.2814C>G (p.Ala938=) n.542C>G n.520C>G c.1275C>G (p.Ala425=) c.174C>G (p.Ala58=) c.2502C>G (p.Ala834=) c.2289C>G (p.Ala763=) | gnomAD v4 |
11 | g.121558741C>T | CA477218948 | SORL1 | c.2814C>T (p.Ala938=) n.542C>T n.520C>T c.1275C>T (p.Ala425=) c.174C>T (p.Ala58=) c.2502C>T (p.Ala834=) c.2289C>T (p.Ala763=) | gnomAD v4 |
11 | g.121558742T>A | CA383036001 | SORL1 | c.2815T>A (p.Tyr939Asn) n.543T>A n.521T>A c.1276T>A (p.Tyr426Asn) c.175T>A (p.Tyr59Asn) c.2503T>A (p.Tyr835Asn) c.2290T>A (p.Tyr764Asn) | |
11 | g.121558742T>C | CA6329064 | SORL1 | c.2815T>C (p.Tyr939His) n.543T>C n.521T>C c.1276T>C (p.Tyr426His) c.175T>C (p.Tyr59His) c.2503T>C (p.Tyr835His) c.2290T>C (p.Tyr764His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121558742T>G | CA383036002 | SORL1 | c.2815T>G (p.Tyr939Asp) n.543T>G n.521T>G c.1276T>G (p.Tyr426Asp) c.175T>G (p.Tyr59Asp) c.2503T>G (p.Tyr835Asp) c.2290T>G (p.Tyr764Asp) | |
11 | g.121558742T= | CA2004919349 | SORL1 | c.2815T= (p.Tyr939=) n.543T= n.521T= c.1276T= (p.Tyr426=) c.175T= (p.Tyr59=) c.2503T= (p.Tyr835=) c.2290T= (p.Tyr764=) | |
11 | g.121558743A>C | CA383036003 | SORL1 | c.2816A>C (p.Tyr939Ser) n.544A>C n.522A>C c.1277A>C (p.Tyr426Ser) c.176A>C (p.Tyr59Ser) c.2504A>C (p.Tyr835Ser) c.2291A>C (p.Tyr764Ser) | |
11 | g.121558743A>G | CA383036004 | SORL1 | c.2816A>G (p.Tyr939Cys) n.544A>G n.522A>G c.1277A>G (p.Tyr426Cys) c.176A>G (p.Tyr59Cys) c.2504A>G (p.Tyr835Cys) c.2291A>G (p.Tyr764Cys) | |
11 | g.121558743A>T | CA383036005 | SORL1 | c.2816A>T (p.Tyr939Phe) n.544A>T n.522A>T c.1277A>T (p.Tyr426Phe) c.176A>T (p.Tyr59Phe) c.2504A>T (p.Tyr835Phe) c.2291A>T (p.Tyr764Phe) | |
11 | g.121558744C>A | CA383036006 | SORL1 | c.2817C>A (p.Tyr939Ter) n.545C>A n.523C>A c.1278C>A (p.Tyr426Ter) c.177C>A (p.Tyr59Ter) c.2505C>A (p.Tyr835Ter) c.2292C>A (p.Tyr764Ter) | |
11 | g.121558744C>G | CA383036007 | SORL1 | c.2817C>G (p.Tyr939Ter) n.545C>G n.523C>G c.1278C>G (p.Tyr426Ter) c.177C>G (p.Tyr59Ter) c.2505C>G (p.Tyr835Ter) c.2292C>G (p.Tyr764Ter) | |
11 | g.121558744C>T | CA477218949 | SORL1 | c.2817C>T (p.Tyr939=) n.545C>T n.523C>T c.1278C>T (p.Tyr426=) c.177C>T (p.Tyr59=) c.2505C>T (p.Tyr835=) c.2292C>T (p.Tyr764=) | |
11 | g.121558745C>A | CA383036008 | SORL1 | c.2818C>A (p.Leu940Met) n.546C>A n.524C>A c.1279C>A (p.Leu427Met) c.178C>A (p.Leu60Met) c.2506C>A (p.Leu836Met) c.2293C>A (p.Leu765Met) | |
11 | g.121558745C>G | CA383036009 | SORL1 | c.2818C>G (p.Leu940Val) n.546C>G n.524C>G c.1279C>G (p.Leu427Val) c.178C>G (p.Leu60Val) c.2506C>G (p.Leu836Val) c.2293C>G (p.Leu765Val) | |
11 | g.121558745C>T | CA477218950 | SORL1 | c.2818C>T (p.Leu940=) n.546C>T n.524C>T c.1279C>T (p.Leu427=) c.178C>T (p.Leu60=) c.2506C>T (p.Leu836=) c.2293C>T (p.Leu765=) | |
11 | g.121558746T>A | CA383036010 | SORL1 | c.2819T>A (p.Leu940Gln) n.547T>A n.525T>A c.1280T>A (p.Leu427Gln) c.179T>A (p.Leu60Gln) c.2507T>A (p.Leu836Gln) c.2294T>A (p.Leu765Gln) | |
11 | g.121558746T>C | CA383036011 | SORL1 | c.2819T>C (p.Leu940Pro) n.547T>C n.525T>C c.1280T>C (p.Leu427Pro) c.179T>C (p.Leu60Pro) c.2507T>C (p.Leu836Pro) c.2294T>C (p.Leu765Pro) | |
11 | g.121558746T>G | CA383036012 | SORL1 | c.2819T>G (p.Leu940Arg) n.547T>G n.525T>G c.1280T>G (p.Leu427Arg) c.179T>G (p.Leu60Arg) c.2507T>G (p.Leu836Arg) c.2294T>G (p.Leu765Arg) | |
11 | g.121558747G>A | CA477218951 | SORL1 | c.2820G>A (p.Leu940=) n.548G>A n.526G>A c.1281G>A (p.Leu427=) c.180G>A (p.Leu60=) c.2508G>A (p.Leu836=) c.2295G>A (p.Leu765=) | |
11 | g.121558747G>C | CA477218952 | SORL1 | c.2820G>C (p.Leu940=) n.548G>C n.526G>C c.1281G>C (p.Leu427=) c.180G>C (p.Leu60=) c.2508G>C (p.Leu836=) c.2295G>C (p.Leu765=) | |
11 | g.121558747G>T | CA477218953 | SORL1 | c.2820G>T (p.Leu940=) n.548G>T n.526G>T c.1281G>T (p.Leu427=) c.180G>T (p.Leu60=) c.2508G>T (p.Leu836=) c.2295G>T (p.Leu765=) | |
11 | g.121558748G>A | CA6329065 | SORL1 | c.2821G>A (p.Glu941Lys) n.549G>A n.527G>A c.1282G>A (p.Glu428Lys) c.181G>A (p.Glu61Lys) c.2509G>A (p.Glu837Lys) c.2296G>A (p.Glu766Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121558748G>C | CA383036013 | SORL1 | c.2821G>C (p.Glu941Gln) n.549G>C n.527G>C c.1282G>C (p.Glu428Gln) c.181G>C (p.Glu61Gln) c.2509G>C (p.Glu837Gln) c.2296G>C (p.Glu766Gln) | gnomAD v4 |
11 | g.121558748G= | CA2004919350 | SORL1 | c.2821G= (p.Glu941=) n.549G= n.527G= c.1282G= (p.Glu428=) c.181G= (p.Glu61=) c.2509G= (p.Glu837=) c.2296G= (p.Glu766=) | |
11 | g.121558748G>T | CA383036014 | SORL1 | c.2821G>T (p.Glu941Ter) n.549G>T n.527G>T c.1282G>T (p.Glu428Ter) c.181G>T (p.Glu61Ter) c.2509G>T (p.Glu837Ter) c.2296G>T (p.Glu766Ter) | |
11 | g.121558749A>C | CA383036015 | SORL1 | c.2822A>C (p.Glu941Ala) n.550A>C n.528A>C c.1283A>C (p.Glu428Ala) c.182A>C (p.Glu61Ala) c.2510A>C (p.Glu837Ala) c.2297A>C (p.Glu766Ala) | |
11 | g.121558749A>G | CA383036016 | SORL1 | c.2822A>G (p.Glu941Gly) n.550A>G n.528A>G c.1283A>G (p.Glu428Gly) c.182A>G (p.Glu61Gly) c.2510A>G (p.Glu837Gly) c.2297A>G (p.Glu766Gly) | |
11 | g.121558749A>T | CA383036017 | SORL1 | c.2822A>T (p.Glu941Val) n.550A>T n.528A>T c.1283A>T (p.Glu428Val) c.182A>T (p.Glu61Val) c.2510A>T (p.Glu837Val) c.2297A>T (p.Glu766Val) | |
11 | g.121558750G>A | CA229902915 | SORL1 | c.2823G>A (p.Glu941=) n.551G>A n.529G>A c.1284G>A (p.Glu428=) c.183G>A (p.Glu61=) c.2511G>A (p.Glu837=) c.2298G>A (p.Glu766=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121558750G>C | CA383036018 | SORL1 | c.2823G>C (p.Glu941Asp) n.551G>C n.529G>C c.1284G>C (p.Glu428Asp) c.183G>C (p.Glu61Asp) c.2511G>C (p.Glu837Asp) c.2298G>C (p.Glu766Asp) | dbSNP |
11 | g.121558750G= | CA2004919351 | SORL1 | c.2823G= (p.Glu941=) n.551G= n.529G= c.1284G= (p.Glu428=) c.183G= (p.Glu61=) c.2511G= (p.Glu837=) c.2298G= (p.Glu766=) | |
11 | g.121558750G>T | CA383036019 | SORL1 | c.2823G>T (p.Glu941Asp) n.551G>T n.529G>T c.1284G>T (p.Glu428Asp) c.183G>T (p.Glu61Asp) c.2511G>T (p.Glu837Asp) c.2298G>T (p.Glu766Asp) | |
11 | g.121558751T>A | CA383036022 | SORL1 | c.2824T>A (p.Cys942Ser) n.552T>A n.530T>A c.1285T>A (p.Cys429Ser) c.184T>A (p.Cys62Ser) c.2512T>A (p.Cys838Ser) c.2299T>A (p.Cys767Ser) | |
11 | g.121558751T>C | CA383036020 | SORL1 | c.2824T>C (p.Cys942Arg) n.552T>C n.530T>C c.1285T>C (p.Cys429Arg) c.184T>C (p.Cys62Arg) c.2512T>C (p.Cys838Arg) c.2299T>C (p.Cys767Arg) | |
11 | g.121558751T>G | CA383036021 | SORL1 | c.2824T>G (p.Cys942Gly) n.552T>G n.530T>G c.1285T>G (p.Cys429Gly) c.184T>G (p.Cys62Gly) c.2512T>G (p.Cys838Gly) c.2299T>G (p.Cys767Gly) | |
11 | g.121558752G>A | CA383036023 | SORL1 | c.2825G>A (p.Cys942Tyr) n.553G>A n.531G>A c.1286G>A (p.Cys429Tyr) c.185G>A (p.Cys62Tyr) c.2513G>A (p.Cys838Tyr) c.2300G>A (p.Cys767Tyr) | |
11 | g.121558752G>C | CA383036024 | SORL1 | c.2825G>C (p.Cys942Ser) n.553G>C n.531G>C c.1286G>C (p.Cys429Ser) c.185G>C (p.Cys62Ser) c.2513G>C (p.Cys838Ser) c.2300G>C (p.Cys767Ser) | |
11 | g.121558752G>T | CA383036025 | SORL1 | c.2825G>T (p.Cys942Phe) n.553G>T n.531G>T c.1286G>T (p.Cys429Phe) c.185G>T (p.Cys62Phe) c.2513G>T (p.Cys838Phe) c.2300G>T (p.Cys767Phe) | |
11 | g.121558753_121558757del | CA2616498001 | SORL1 | c.2826_2830del (p.Cys942Ter) n.554_558del n.532_536del c.1287_1291del (p.Cys429Ter) c.186_190del (p.Cys62Ter) c.2514_2518del (p.Cys838Ter) c.2301_2305del (p.Cys767Ter) | gnomAD v4 |
11 | g.121558753C>A | CA383036026 | SORL1 | c.2826C>A (p.Cys942Ter) n.554C>A n.532C>A c.1287C>A (p.Cys429Ter) c.186C>A (p.Cys62Ter) c.2514C>A (p.Cys838Ter) c.2301C>A (p.Cys767Ter) | |
11 | g.121558753C= | CA2004919352 | SORL1 | c.2826C= (p.Cys942=) n.554C= n.532C= c.1287C= (p.Cys429=) c.186C= (p.Cys62=) c.2514C= (p.Cys838=) c.2301C= (p.Cys767=) | |
11 | g.121558753C>G | CA383036027 | SORL1 | c.2826C>G (p.Cys942Trp) n.554C>G n.532C>G c.1287C>G (p.Cys429Trp) c.186C>G (p.Cys62Trp) c.2514C>G (p.Cys838Trp) c.2301C>G (p.Cys767Trp) | |
11 | g.121558753C>T | CA477218954 | SORL1 | c.2826C>T (p.Cys942=) n.554C>T n.532C>T c.1287C>T (p.Cys429=) c.186C>T (p.Cys62=) c.2514C>T (p.Cys838=) c.2301C>T (p.Cys767=) | dbSNP |
11 | g.121558754A= | CA2004919353 | SORL1 | c.2827A= (p.Ile943=) n.555A= n.533A= c.1288A= (p.Ile430=) c.187A= (p.Ile63=) c.2515A= (p.Ile839=) c.2302A= (p.Ile768=) | |
11 | g.121558754A>C | CA383036028 | SORL1 | c.2827A>C (p.Ile943Leu) n.555A>C n.533A>C c.1288A>C (p.Ile430Leu) c.187A>C (p.Ile63Leu) c.2515A>C (p.Ile839Leu) c.2302A>C (p.Ile768Leu) | |
11 | g.121558754A>G | CA383036029 | SORL1 | c.2827A>G (p.Ile943Val) n.555A>G n.533A>G c.1288A>G (p.Ile430Val) c.187A>G (p.Ile63Val) c.2515A>G (p.Ile839Val) c.2302A>G (p.Ile768Val) | ClinVar dbSNP gnomAD v4 |
11 | g.121558754A>T | CA383036030 | SORL1 | c.2827A>T (p.Ile943Leu) n.555A>T n.533A>T c.1288A>T (p.Ile430Leu) c.187A>T (p.Ile63Leu) c.2515A>T (p.Ile839Leu) c.2302A>T (p.Ile768Leu) | |
11 | g.121558755T>A | CA383036031 | SORL1 | c.2828T>A (p.Ile943Lys) n.556T>A n.534T>A c.1289T>A (p.Ile430Lys) c.188T>A (p.Ile63Lys) c.2516T>A (p.Ile839Lys) c.2303T>A (p.Ile768Lys) | |
11 | g.121558755T>C | CA383036032 | SORL1 | c.2828T>C (p.Ile943Thr) n.556T>C n.534T>C c.1289T>C (p.Ile430Thr) c.188T>C (p.Ile63Thr) c.2516T>C (p.Ile839Thr) c.2303T>C (p.Ile768Thr) | |
11 | g.121558755T>G | CA383036033 | SORL1 | c.2828T>G (p.Ile943Arg) n.556T>G n.534T>G c.1289T>G (p.Ile430Arg) c.188T>G (p.Ile63Arg) c.2516T>G (p.Ile839Arg) c.2303T>G (p.Ile768Arg) | COSMIC |
11 | g.121558755_121558756insTG | CA2520058945 | SORL1 | c.2828_2829insTG (p.Arg945SerfsTer?) n.556_557insTG n.534_535insTG c.1289_1290insTG (p.Arg432SerfsTer?) c.188_189insTG (p.Arg65SerfsTer?) c.2516_2517insTG (p.Arg841SerfsTer?) c.2303_2304insTG (p.Arg770SerfsTer?) | |
11 | g.121558756A>C | CA477218955 | SORL1 | c.2829A>C (p.Ile943=) n.557A>C n.535A>C c.1290A>C (p.Ile430=) c.189A>C (p.Ile63=) c.2517A>C (p.Ile839=) c.2304A>C (p.Ile768=) | |
11 | g.121558756A>G | CA383036034 | SORL1 | c.2829A>G (p.Ile943Met) n.557A>G n.535A>G c.1290A>G (p.Ile430Met) c.189A>G (p.Ile63Met) c.2517A>G (p.Ile839Met) c.2304A>G (p.Ile768Met) | |
11 | g.121558756A>T | CA477218956 | SORL1 | c.2829A>T (p.Ile943=) n.557A>T n.535A>T c.1290A>T (p.Ile430=) c.189A>T (p.Ile63=) c.2517A>T (p.Ile839=) c.2304A>T (p.Ile768=) | |
11 | g.121558757G>A | CA383036036 | SORL1 | c.2830G>A (p.Glu944Lys) n.558G>A n.536G>A c.1291G>A (p.Glu431Lys) c.190G>A (p.Glu64Lys) c.2518G>A (p.Glu840Lys) c.2305G>A (p.Glu769Lys) | dbSNP gnomAD v4 COSMIC |
11 | g.121558757G>C | CA229902917 | SORL1 | c.2830G>C (p.Glu944Gln) n.558G>C n.536G>C c.1291G>C (p.Glu431Gln) c.190G>C (p.Glu64Gln) c.2518G>C (p.Glu840Gln) c.2305G>C (p.Glu769Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121558757G= | CA2004919354 | SORL1 | c.2830G= (p.Glu944=) n.558G= n.536G= c.1291G= (p.Glu431=) c.190G= (p.Glu64=) c.2518G= (p.Glu840=) c.2305G= (p.Glu769=) | |
11 | g.121558757G>T | CA383036035 | SORL1 | c.2830G>T (p.Glu944Ter) n.558G>T n.536G>T c.1291G>T (p.Glu431Ter) c.190G>T (p.Glu64Ter) c.2518G>T (p.Glu840Ter) c.2305G>T (p.Glu769Ter) | |
11 | g.121558758A>C | CA383036037 | SORL1 | c.2831A>C (p.Glu944Ala) n.559A>C n.537A>C c.1292A>C (p.Glu431Ala) c.191A>C (p.Glu64Ala) c.2519A>C (p.Glu840Ala) c.2306A>C (p.Glu769Ala) | |
11 | g.121558758A>G | CA383036039 | SORL1 | c.2831A>G (p.Glu944Gly) n.559A>G n.537A>G c.1292A>G (p.Glu431Gly) c.191A>G (p.Glu64Gly) c.2519A>G (p.Glu840Gly) c.2306A>G (p.Glu769Gly) | |
11 | g.121558758A>T | CA383036038 | SORL1 | c.2831A>T (p.Glu944Val) n.559A>T n.537A>T c.1292A>T (p.Glu431Val) c.191A>T (p.Glu64Val) c.2519A>T (p.Glu840Val) c.2306A>T (p.Glu769Val) | |
11 | g.121558759G>A | CA477218957 | SORL1 | c.2832G>A (p.Glu944=) n.560G>A n.538G>A c.1293G>A (p.Glu431=) c.192G>A (p.Glu64=) c.2520G>A (p.Glu840=) c.2307G>A (p.Glu769=) | |
11 | g.121558759G>C | CA383036040 | SORL1 | c.2832G>C (p.Glu944Asp) n.560G>C n.538G>C c.1293G>C (p.Glu431Asp) c.192G>C (p.Glu64Asp) c.2520G>C (p.Glu840Asp) c.2307G>C (p.Glu769Asp) | |
11 | g.121558759G>T | CA383036041 | SORL1 | c.2832G>T (p.Glu944Asp) n.560G>T n.538G>T c.1293G>T (p.Glu431Asp) c.192G>T (p.Glu64Asp) c.2520G>T (p.Glu840Asp) c.2307G>T (p.Glu769Asp) | |
11 | g.121558759_121558760insGG | CA2502625166 | SORL1 | c.2832_2833insGG (p.Arg945GlyfsTer?) n.560_561insGG n.538_539insGG c.1293_1294insGG (p.Arg432GlyfsTer?) c.192_193insGG (p.Arg65GlyfsTer?) c.2520_2521insGG (p.Arg841GlyfsTer?) c.2307_2308insGG (p.Arg770GlyfsTer?) | |
11 | g.121558760C>A | CA477218958 | SORL1 | c.2833C>A (p.Arg945=) n.561C>A n.539C>A c.1294C>A (p.Arg432=) c.193C>A (p.Arg65=) c.2521C>A (p.Arg841=) c.2308C>A (p.Arg770=) | |
11 | g.121558760C= | CA2004919355 | SORL1 | c.2833C= (p.Arg945=) n.561C= n.539C= c.1294C= (p.Arg432=) c.193C= (p.Arg65=) c.2521C= (p.Arg841=) c.2308C= (p.Arg770=) | |
11 | g.121558760C>G | CA383036042 | SORL1 | c.2833C>G (p.Arg945Gly) n.561C>G n.539C>G c.1294C>G (p.Arg432Gly) c.193C>G (p.Arg65Gly) c.2521C>G (p.Arg841Gly) c.2308C>G (p.Arg770Gly) | dbSNP gnomAD v2 |
11 | g.121558760C>T | CA383036043 | SORL1 | c.2833C>T (p.Arg945Trp) n.561C>T n.539C>T c.1294C>T (p.Arg432Trp) c.193C>T (p.Arg65Trp) c.2521C>T (p.Arg841Trp) c.2308C>T (p.Arg770Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121558761G>A | CA6329066 | SORL1 | c.2834G>A (p.Arg945Gln) n.562G>A n.540G>A c.1295G>A (p.Arg432Gln) c.194G>A (p.Arg65Gln) c.2522G>A (p.Arg841Gln) c.2309G>A (p.Arg770Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121558761G>C | CA383036044 | SORL1 | c.2834G>C (p.Arg945Pro) n.562G>C n.540G>C c.1295G>C (p.Arg432Pro) c.194G>C (p.Arg65Pro) c.2522G>C (p.Arg841Pro) c.2309G>C (p.Arg770Pro) | |
11 | g.121558761G= | CA2004919356 | SORL1 | c.2834G= (p.Arg945=) n.562G= n.540G= c.1295G= (p.Arg432=) c.194G= (p.Arg65=) c.2522G= (p.Arg841=) c.2309G= (p.Arg770=) | |
11 | g.121558761G>T | CA383036045 | SORL1 | c.2834G>T (p.Arg945Leu) n.562G>T n.540G>T c.1295G>T (p.Arg432Leu) c.194G>T (p.Arg65Leu) c.2522G>T (p.Arg841Leu) c.2309G>T (p.Arg770Leu) | |
11 | g.121558762G>A | CA477218961 | SORL1 | c.2835G>A (p.Arg945=) n.563G>A n.541G>A c.1296G>A (p.Arg432=) c.195G>A (p.Arg65=) c.2523G>A (p.Arg841=) c.2310G>A (p.Arg770=) | |
11 | g.121558762G>C | CA477218959 | SORL1 | c.2835G>C (p.Arg945=) n.563G>C n.541G>C c.1296G>C (p.Arg432=) c.195G>C (p.Arg65=) c.2523G>C (p.Arg841=) c.2310G>C (p.Arg770=) | |
11 | g.121558762G>T | CA477218960 | SORL1 | c.2835G>T (p.Arg945=) n.563G>T n.541G>T c.1296G>T (p.Arg432=) c.195G>T (p.Arg65=) c.2523G>T (p.Arg841=) c.2310G>T (p.Arg770=) | |
11 | g.121558763A= | CA2004919357 | SORL1 | c.2836A= (p.Ile946=) n.564A= n.542A= c.1297A= (p.Ile433=) c.196A= (p.Ile66=) c.2524A= (p.Ile842=) c.2311A= (p.Ile771=) | |
11 | g.121558763A>C | CA383036046 | SORL1 | c.2836A>C (p.Ile946Leu) n.564A>C n.542A>C c.1297A>C (p.Ile433Leu) c.196A>C (p.Ile66Leu) c.2524A>C (p.Ile842Leu) c.2311A>C (p.Ile771Leu) | |
11 | g.121558763A>G | CA6329067 | SORL1 | c.2836A>G (p.Ile946Val) n.564A>G n.542A>G c.1297A>G (p.Ile433Val) c.196A>G (p.Ile66Val) c.2524A>G (p.Ile842Val) c.2311A>G (p.Ile771Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121558763A>T | CA383036047 | SORL1 | c.2836A>T (p.Ile946Phe) n.564A>T n.542A>T c.1297A>T (p.Ile433Phe) c.196A>T (p.Ile66Phe) c.2524A>T (p.Ile842Phe) c.2311A>T (p.Ile771Phe) | |
11 | g.121558764T>A | CA383036048 | SORL1 | c.2837T>A (p.Ile946Asn) n.565T>A n.543T>A c.1298T>A (p.Ile433Asn) c.197T>A (p.Ile66Asn) c.2525T>A (p.Ile842Asn) c.2312T>A (p.Ile771Asn) | |
11 | g.121558764T>C | CA383036049 | SORL1 | c.2837T>C (p.Ile946Thr) n.565T>C n.543T>C c.1298T>C (p.Ile433Thr) c.197T>C (p.Ile66Thr) c.2525T>C (p.Ile842Thr) c.2312T>C (p.Ile771Thr) | gnomAD v4 |
11 | g.121558764T>G | CA383036050 | SORL1 | c.2837T>G (p.Ile946Ser) n.565T>G n.543T>G c.1298T>G (p.Ile433Ser) c.197T>G (p.Ile66Ser) c.2525T>G (p.Ile842Ser) c.2312T>G (p.Ile771Ser) | |
11 | g.121558765C>A | CA477218962 | SORL1 | c.2838C>A (p.Ile946=) n.566C>A n.544C>A c.1299C>A (p.Ile433=) c.198C>A (p.Ile66=) c.2526C>A (p.Ile842=) c.2313C>A (p.Ile771=) | |
11 | g.121558765C>G | CA383036051 | SORL1 | c.2838C>G (p.Ile946Met) n.566C>G n.544C>G c.1299C>G (p.Ile433Met) c.198C>G (p.Ile66Met) c.2526C>G (p.Ile842Met) c.2313C>G (p.Ile771Met) | |
11 | g.121558765C>T | CA477218963 | SORL1 | c.2838C>T (p.Ile946=) n.566C>T n.544C>T c.1299C>T (p.Ile433=) c.198C>T (p.Ile66=) c.2526C>T (p.Ile842=) c.2313C>T (p.Ile771=) | COSMIC |
11 | g.121558765_121558768del | CA2556713216 | SORL1 | c.2838_2841del (p.Thr947SerfsTer?) n.566_569del n.544_547del c.1299_1302del (p.Thr434SerfsTer?) c.198_201del (p.Thr67SerfsTer?) c.2526_2529del (p.Thr843SerfsTer?) c.2313_2316del (p.Thr772SerfsTer?) | |
11 | g.121558766A>C | CA383036052 | SORL1 | c.2839A>C (p.Thr947Pro) n.567A>C n.545A>C c.1300A>C (p.Thr434Pro) c.199A>C (p.Thr67Pro) c.2527A>C (p.Thr843Pro) c.2314A>C (p.Thr772Pro) | |
11 | g.121558766A>G | CA383036053 | SORL1 | c.2839A>G (p.Thr947Ala) n.567A>G n.545A>G c.1300A>G (p.Thr434Ala) c.199A>G (p.Thr67Ala) c.2527A>G (p.Thr843Ala) c.2314A>G (p.Thr772Ala) | |
11 | g.121558766A>T | CA383036054 | SORL1 | c.2839A>T (p.Thr947Ser) n.567A>T n.545A>T c.1300A>T (p.Thr434Ser) c.199A>T (p.Thr67Ser) c.2527A>T (p.Thr843Ser) c.2314A>T (p.Thr772Ser) | |
11 | g.121558767C>A | CA383036055 | SORL1 | c.2840C>A (p.Thr947Lys) n.568C>A n.546C>A c.1301C>A (p.Thr434Lys) c.200C>A (p.Thr67Lys) c.2528C>A (p.Thr843Lys) c.2315C>A (p.Thr772Lys) | dbSNP gnomAD v4 |
11 | g.121558767C= | CA2004919358 | SORL1 | c.2840C= (p.Thr947=) n.568C= n.546C= c.1301C= (p.Thr434=) c.200C= (p.Thr67=) c.2528C= (p.Thr843=) c.2315C= (p.Thr772=) | |
11 | g.121558767C>G | CA383036056 | SORL1 | c.2840C>G (p.Thr947Arg) n.568C>G n.546C>G c.1301C>G (p.Thr434Arg) c.200C>G (p.Thr67Arg) c.2528C>G (p.Thr843Arg) c.2315C>G (p.Thr772Arg) | |
11 | g.121558767C>T | CA6329068 | SORL1 | c.2840C>T (p.Thr947Met) n.568C>T n.546C>T c.1301C>T (p.Thr434Met) c.200C>T (p.Thr67Met) c.2528C>T (p.Thr843Met) c.2315C>T (p.Thr772Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121558768G>A | CA6329069 | SORL1 | c.2841G>A (p.Thr947=) n.569G>A n.547G>A c.1302G>A (p.Thr434=) c.201G>A (p.Thr67=) c.2529G>A (p.Thr843=) c.2316G>A (p.Thr772=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121558768G>C | CA477218964 | SORL1 | c.2841G>C (p.Thr947=) n.569G>C n.547G>C c.1302G>C (p.Thr434=) c.201G>C (p.Thr67=) c.2529G>C (p.Thr843=) c.2316G>C (p.Thr772=) | dbSNP |
11 | g.121558768G= | CA2004919359 | SORL1 | c.2841G= (p.Thr947=) n.569G= n.547G= c.1302G= (p.Thr434=) c.201G= (p.Thr67=) c.2529G= (p.Thr843=) c.2316G= (p.Thr772=) | |
11 | g.121558768G>T | CA477218965 | SORL1 | c.2841G>T (p.Thr947=) n.569G>T n.547G>T c.1302G>T (p.Thr434=) c.201G>T (p.Thr67=) c.2529G>T (p.Thr843=) c.2316G>T (p.Thr772=) | ClinVar gnomAD v4 |