WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.121558667C>A | CA383035827 | SORL1 | c.2740C>A (p.His914Asn) n.468C>A n.446C>A c.1201C>A (p.His401Asn) c.100C>A (p.His34Asn) c.2428C>A (p.His810Asn) c.2215C>A (p.His739Asn) | |
| 11 | g.121558667C>G | CA383035829 | SORL1 | c.2740C>G (p.His914Asp) n.468C>G n.446C>G c.1201C>G (p.His401Asp) c.100C>G (p.His34Asp) c.2428C>G (p.His810Asp) c.2215C>G (p.His739Asp) | |
| 11 | g.121558667C>T | CA383035828 | SORL1 | c.2740C>T (p.His914Tyr) n.468C>T n.446C>T c.1201C>T (p.His401Tyr) c.100C>T (p.His34Tyr) c.2428C>T (p.His810Tyr) c.2215C>T (p.His739Tyr) | |
| 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 |