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.121577362A= | CA2004947504 | SORL1 | c.3542A= (p.Asn1181=) c.374A= (p.Asn125=) c.80A= (p.Asn27=) c.272A= (p.Asn91=) c.3428A= (p.Asn1143=) c.2003A= (p.Asn668=) c.902A= (p.Asn301=) c.3230A= (p.Asn1077=) c.3017A= (p.Asn1006=) | |
| 11 | g.121577362A>C | CA383024898 | SORL1 | c.3542A>C (p.Asn1181Thr) c.374A>C (p.Asn125Thr) c.80A>C (p.Asn27Thr) c.272A>C (p.Asn91Thr) c.3428A>C (p.Asn1143Thr) c.2003A>C (p.Asn668Thr) c.902A>C (p.Asn301Thr) c.3230A>C (p.Asn1077Thr) c.3017A>C (p.Asn1006Thr) | |
| 11 | g.121577362A>G | CA383024899 | SORL1 | c.3542A>G (p.Asn1181Ser) c.374A>G (p.Asn125Ser) c.80A>G (p.Asn27Ser) c.272A>G (p.Asn91Ser) c.3428A>G (p.Asn1143Ser) c.2003A>G (p.Asn668Ser) c.902A>G (p.Asn301Ser) c.3230A>G (p.Asn1077Ser) c.3017A>G (p.Asn1006Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.121577362A>T | CA383024900 | SORL1 | c.3542A>T (p.Asn1181Ile) c.374A>T (p.Asn125Ile) c.80A>T (p.Asn27Ile) c.272A>T (p.Asn91Ile) c.3428A>T (p.Asn1143Ile) c.2003A>T (p.Asn668Ile) c.902A>T (p.Asn301Ile) c.3230A>T (p.Asn1077Ile) c.3017A>T (p.Asn1006Ile) | |
| 11 | g.121577363C>A | CA383024901 | SORL1 | c.3543C>A (p.Asn1181Lys) c.375C>A (p.Asn125Lys) c.81C>A (p.Asn27Lys) c.273C>A (p.Asn91Lys) c.3429C>A (p.Asn1143Lys) c.2004C>A (p.Asn668Lys) c.903C>A (p.Asn301Lys) c.3231C>A (p.Asn1077Lys) c.3018C>A (p.Asn1006Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.121577363C= | CA2004947505 | SORL1 | c.3543C= (p.Asn1181=) c.375C= (p.Asn125=) c.81C= (p.Asn27=) c.273C= (p.Asn91=) c.3429C= (p.Asn1143=) c.2004C= (p.Asn668=) c.903C= (p.Asn301=) c.3231C= (p.Asn1077=) c.3018C= (p.Asn1006=) | |
| 11 | g.121577363C>G | CA383024902 | SORL1 | c.3543C>G (p.Asn1181Lys) c.375C>G (p.Asn125Lys) c.81C>G (p.Asn27Lys) c.273C>G (p.Asn91Lys) c.3429C>G (p.Asn1143Lys) c.2004C>G (p.Asn668Lys) c.903C>G (p.Asn301Lys) c.3231C>G (p.Asn1077Lys) c.3018C>G (p.Asn1006Lys) | |
| 11 | g.121577363C>T | CA6329298 | SORL1 | c.3543C>T (p.Asn1181=) c.375C>T (p.Asn125=) c.81C>T (p.Asn27=) c.273C>T (p.Asn91=) c.3429C>T (p.Asn1143=) c.2004C>T (p.Asn668=) c.903C>T (p.Asn301=) c.3231C>T (p.Asn1077=) c.3018C>T (p.Asn1006=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121577364G>A | CA383024905 | SORL1 | c.3544G>A (p.Asp1182Asn) c.376G>A (p.Asp126Asn) c.82G>A (p.Asp28Asn) c.274G>A (p.Asp92Asn) c.3430G>A (p.Asp1144Asn) c.2005G>A (p.Asp669Asn) c.904G>A (p.Asp302Asn) c.3232G>A (p.Asp1078Asn) c.3019G>A (p.Asp1007Asn) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.121577364G>C | CA383024904 | SORL1 | c.3544G>C (p.Asp1182His) c.376G>C (p.Asp126His) c.82G>C (p.Asp28His) c.274G>C (p.Asp92His) c.3430G>C (p.Asp1144His) c.2005G>C (p.Asp669His) c.904G>C (p.Asp302His) c.3232G>C (p.Asp1078His) c.3019G>C (p.Asp1007His) | |
| 11 | g.121577364G= | CA2004947506 | SORL1 | c.3544G= (p.Asp1182=) c.376G= (p.Asp126=) c.82G= (p.Asp28=) c.274G= (p.Asp92=) c.3430G= (p.Asp1144=) c.2005G= (p.Asp669=) c.904G= (p.Asp302=) c.3232G= (p.Asp1078=) c.3019G= (p.Asp1007=) | |
| 11 | g.121577364G>T | CA383024903 | SORL1 | c.3544G>T (p.Asp1182Tyr) c.376G>T (p.Asp126Tyr) c.82G>T (p.Asp28Tyr) c.274G>T (p.Asp92Tyr) c.3430G>T (p.Asp1144Tyr) c.2005G>T (p.Asp669Tyr) c.904G>T (p.Asp302Tyr) c.3232G>T (p.Asp1078Tyr) c.3019G>T (p.Asp1007Tyr) | gnomAD v4 |
| 11 | g.121577365A>C | CA383024906 | SORL1 | c.3545A>C (p.Asp1182Ala) c.377A>C (p.Asp126Ala) c.83A>C (p.Asp28Ala) c.275A>C (p.Asp92Ala) c.3431A>C (p.Asp1144Ala) c.2006A>C (p.Asp669Ala) c.905A>C (p.Asp302Ala) c.3233A>C (p.Asp1078Ala) c.3020A>C (p.Asp1007Ala) | |
| 11 | g.121577365A>G | CA383024907 | SORL1 | c.3545A>G (p.Asp1182Gly) c.377A>G (p.Asp126Gly) c.83A>G (p.Asp28Gly) c.275A>G (p.Asp92Gly) c.3431A>G (p.Asp1144Gly) c.2006A>G (p.Asp669Gly) c.905A>G (p.Asp302Gly) c.3233A>G (p.Asp1078Gly) c.3020A>G (p.Asp1007Gly) | |
| 11 | g.121577365A>T | CA383024908 | SORL1 | c.3545A>T (p.Asp1182Val) c.377A>T (p.Asp126Val) c.83A>T (p.Asp28Val) c.275A>T (p.Asp92Val) c.3431A>T (p.Asp1144Val) c.2006A>T (p.Asp669Val) c.905A>T (p.Asp302Val) c.3233A>T (p.Asp1078Val) c.3020A>T (p.Asp1007Val) | |
| 11 | g.121577366C>A | CA383024909 | SORL1 | c.3546C>A (p.Asp1182Glu) c.378C>A (p.Asp126Glu) c.84C>A (p.Asp28Glu) c.276C>A (p.Asp92Glu) c.3432C>A (p.Asp1144Glu) c.2007C>A (p.Asp669Glu) c.906C>A (p.Asp302Glu) c.3234C>A (p.Asp1078Glu) c.3021C>A (p.Asp1007Glu) | |
| 11 | g.121577366C>G | CA383024910 | SORL1 | c.3546C>G (p.Asp1182Glu) c.378C>G (p.Asp126Glu) c.84C>G (p.Asp28Glu) c.276C>G (p.Asp92Glu) c.3432C>G (p.Asp1144Glu) c.2007C>G (p.Asp669Glu) c.906C>G (p.Asp302Glu) c.3234C>G (p.Asp1078Glu) c.3021C>G (p.Asp1007Glu) | |
| 11 | g.121577366C>T | CA477219348 | SORL1 | c.3546C>T (p.Asp1182=) c.378C>T (p.Asp126=) c.84C>T (p.Asp28=) c.276C>T (p.Asp92=) c.3432C>T (p.Asp1144=) c.2007C>T (p.Asp669=) c.906C>T (p.Asp302=) c.3234C>T (p.Asp1078=) c.3021C>T (p.Asp1007=) | COSMIC |
| 11 | g.121577367T>A | CA383024911 | SORL1 | c.3547T>A (p.Cys1183Ser) c.379T>A (p.Cys127Ser) c.85T>A (p.Cys29Ser) c.277T>A (p.Cys93Ser) c.3433T>A (p.Cys1145Ser) c.2008T>A (p.Cys670Ser) c.907T>A (p.Cys303Ser) c.3235T>A (p.Cys1079Ser) c.3022T>A (p.Cys1008Ser) | |
| 11 | g.121577367T>C | CA383024912 | SORL1 | c.3547T>C (p.Cys1183Arg) c.379T>C (p.Cys127Arg) c.85T>C (p.Cys29Arg) c.277T>C (p.Cys93Arg) c.3433T>C (p.Cys1145Arg) c.2008T>C (p.Cys670Arg) c.907T>C (p.Cys303Arg) c.3235T>C (p.Cys1079Arg) c.3022T>C (p.Cys1008Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.121577367T>G | CA383024913 | SORL1 | c.3547T>G (p.Cys1183Gly) c.379T>G (p.Cys127Gly) c.85T>G (p.Cys29Gly) c.277T>G (p.Cys93Gly) c.3433T>G (p.Cys1145Gly) c.2008T>G (p.Cys670Gly) c.907T>G (p.Cys303Gly) c.3235T>G (p.Cys1079Gly) c.3022T>G (p.Cys1008Gly) | |
| 11 | g.121577367T= | CA2004947507 | SORL1 | c.3547T= (p.Cys1183=) c.379T= (p.Cys127=) c.85T= (p.Cys29=) c.277T= (p.Cys93=) c.3433T= (p.Cys1145=) c.2008T= (p.Cys670=) c.907T= (p.Cys303=) c.3235T= (p.Cys1079=) c.3022T= (p.Cys1008=) | |
| 11 | g.121577368G>A | CA383024914 | SORL1 | c.3548G>A (p.Cys1183Tyr) c.380G>A (p.Cys127Tyr) c.86G>A (p.Cys29Tyr) c.278G>A (p.Cys93Tyr) c.3434G>A (p.Cys1145Tyr) c.2009G>A (p.Cys670Tyr) c.908G>A (p.Cys303Tyr) c.3236G>A (p.Cys1079Tyr) c.3023G>A (p.Cys1008Tyr) | dbSNP gnomAD v2 COSMIC |
| 11 | g.121577368G>C | CA383024915 | SORL1 | c.3548G>C (p.Cys1183Ser) c.380G>C (p.Cys127Ser) c.86G>C (p.Cys29Ser) c.278G>C (p.Cys93Ser) c.3434G>C (p.Cys1145Ser) c.2009G>C (p.Cys670Ser) c.908G>C (p.Cys303Ser) c.3236G>C (p.Cys1079Ser) c.3023G>C (p.Cys1008Ser) | |
| 11 | g.121577368G= | CA2004947509 | SORL1 | c.3548G= (p.Cys1183=) c.380G= (p.Cys127=) c.86G= (p.Cys29=) c.278G= (p.Cys93=) c.3434G= (p.Cys1145=) c.2009G= (p.Cys670=) c.908G= (p.Cys303=) c.3236G= (p.Cys1079=) c.3023G= (p.Cys1008=) | |
| 11 | g.121577368G>T | CA383024916 | SORL1 | c.3548G>T (p.Cys1183Phe) c.380G>T (p.Cys127Phe) c.86G>T (p.Cys29Phe) c.278G>T (p.Cys93Phe) c.3434G>T (p.Cys1145Phe) c.2009G>T (p.Cys670Phe) c.908G>T (p.Cys303Phe) c.3236G>T (p.Cys1079Phe) c.3023G>T (p.Cys1008Phe) | |
| 11 | g.121577369_121577373dup | CA2004947508 | SORL1 | c.3549_3553dup (p.Asp1185AlafsTer?) c.381_385dup (p.Asp129AlafsTer?) c.87_91dup (p.Asp31AlafsTer?) c.279_283dup (p.Asp95AlafsTer?) c.3435_3439dup (p.Asp1147AlafsTer?) c.2010_2014dup (p.Asp672AlafsTer?) c.909_913dup (p.Asp305AlafsTer?) c.3237_3241dup (p.Asp1081AlafsTer?) c.3024_3028dup (p.Asp1010AlafsTer?) | dbSNP |
| 11 | g.121577369C>A | CA383024917 | SORL1 | c.3549C>A (p.Cys1183Ter) c.381C>A (p.Cys127Ter) c.87C>A (p.Cys29Ter) c.279C>A (p.Cys93Ter) c.3435C>A (p.Cys1145Ter) c.2010C>A (p.Cys670Ter) c.909C>A (p.Cys303Ter) c.3237C>A (p.Cys1079Ter) c.3024C>A (p.Cys1008Ter) | |
| 11 | g.121577369C= | CA2004947510 | SORL1 | c.3549C= (p.Cys1183=) c.381C= (p.Cys127=) c.87C= (p.Cys29=) c.279C= (p.Cys93=) c.3435C= (p.Cys1145=) c.2010C= (p.Cys670=) c.909C= (p.Cys303=) c.3237C= (p.Cys1079=) c.3024C= (p.Cys1008=) | |
| 11 | g.121577369C>G | CA383024918 | SORL1 | c.3549C>G (p.Cys1183Trp) c.381C>G (p.Cys127Trp) c.87C>G (p.Cys29Trp) c.279C>G (p.Cys93Trp) c.3435C>G (p.Cys1145Trp) c.2010C>G (p.Cys670Trp) c.909C>G (p.Cys303Trp) c.3237C>G (p.Cys1079Trp) c.3024C>G (p.Cys1008Trp) | dbSNP |
| 11 | g.121577369C>T | CA477219349 | SORL1 | c.3549C>T (p.Cys1183=) c.381C>T (p.Cys127=) c.87C>T (p.Cys29=) c.279C>T (p.Cys93=) c.3435C>T (p.Cys1145=) c.2010C>T (p.Cys670=) c.909C>T (p.Cys303=) c.3237C>T (p.Cys1079=) c.3024C>T (p.Cys1008=) | |
| 11 | g.121577370A= | CA2004947511 | SORL1 | c.3550A= (p.Arg1184=) c.382A= (p.Arg128=) c.88A= (p.Arg30=) c.280A= (p.Arg94=) c.3436A= (p.Arg1146=) c.2011A= (p.Arg671=) c.910A= (p.Arg304=) c.3238A= (p.Arg1080=) c.3025A= (p.Arg1009=) | |
| 11 | g.121577370A>C | CA477219350 | SORL1 | c.3550A>C (p.Arg1184=) c.382A>C (p.Arg128=) c.88A>C (p.Arg30=) c.280A>C (p.Arg94=) c.3436A>C (p.Arg1146=) c.2011A>C (p.Arg671=) c.910A>C (p.Arg304=) c.3238A>C (p.Arg1080=) c.3025A>C (p.Arg1009=) | |
| 11 | g.121577370A>G | CA383024920 | SORL1 | c.3550A>G (p.Arg1184Gly) c.382A>G (p.Arg128Gly) c.88A>G (p.Arg30Gly) c.280A>G (p.Arg94Gly) c.3436A>G (p.Arg1146Gly) c.2011A>G (p.Arg671Gly) c.910A>G (p.Arg304Gly) c.3238A>G (p.Arg1080Gly) c.3025A>G (p.Arg1009Gly) | |
| 11 | g.121577370A>T | CA383024919 | SORL1 | c.3550A>T (p.Arg1184Trp) c.382A>T (p.Arg128Trp) c.88A>T (p.Arg30Trp) c.280A>T (p.Arg94Trp) c.3436A>T (p.Arg1146Trp) c.2011A>T (p.Arg671Trp) c.910A>T (p.Arg304Trp) c.3238A>T (p.Arg1080Trp) c.3025A>T (p.Arg1009Trp) | |
| 11 | g.121577371G>A | CA383024921 | SORL1 | c.3551G>A (p.Arg1184Lys) c.383G>A (p.Arg128Lys) c.89G>A (p.Arg30Lys) c.281G>A (p.Arg94Lys) c.3437G>A (p.Arg1146Lys) c.2012G>A (p.Arg671Lys) c.911G>A (p.Arg304Lys) c.3239G>A (p.Arg1080Lys) c.3026G>A (p.Arg1009Lys) | COSMIC |
| 11 | g.121577371G>C | CA383024922 | SORL1 | c.3551G>C (p.Arg1184Thr) c.383G>C (p.Arg128Thr) c.89G>C (p.Arg30Thr) c.281G>C (p.Arg94Thr) c.3437G>C (p.Arg1146Thr) c.2012G>C (p.Arg671Thr) c.911G>C (p.Arg304Thr) c.3239G>C (p.Arg1080Thr) c.3026G>C (p.Arg1009Thr) | |
| 11 | g.121577371G>T | CA383024923 | SORL1 | c.3551G>T (p.Arg1184Met) c.383G>T (p.Arg128Met) c.89G>T (p.Arg30Met) c.281G>T (p.Arg94Met) c.3437G>T (p.Arg1146Met) c.2012G>T (p.Arg671Met) c.911G>T (p.Arg304Met) c.3239G>T (p.Arg1080Met) c.3026G>T (p.Arg1009Met) | |
| 11 | g.121577373dup | CA229853392 | SORL1 | c.3553dup (p.Asp1185GlyfsTer4) c.385dup (p.Asp129GlyfsTer4) c.91dup (p.Asp31GlyfsTer4) c.283dup (p.Asp95GlyfsTer4) c.3439dup (p.Asp1147GlyfsTer4) c.2014dup (p.Asp672GlyfsTer4) c.913dup (p.Asp305GlyfsTer4) c.3241dup (p.Asp1081GlyfsTer4) c.3028dup (p.Asp1010GlyfsTer4) | dbSNP |
| 11 | g.121577372G>A | CA477219351 | SORL1 | c.3552G>A (p.Arg1184=) c.384G>A (p.Arg128=) c.90G>A (p.Arg30=) c.282G>A (p.Arg94=) c.3438G>A (p.Arg1146=) c.2013G>A (p.Arg671=) c.912G>A (p.Arg304=) c.3240G>A (p.Arg1080=) c.3027G>A (p.Arg1009=) | gnomAD v4 |
| 11 | g.121577372G>C | CA383024924 | SORL1 | c.3552G>C (p.Arg1184Ser) c.384G>C (p.Arg128Ser) c.90G>C (p.Arg30Ser) c.282G>C (p.Arg94Ser) c.3438G>C (p.Arg1146Ser) c.2013G>C (p.Arg671Ser) c.912G>C (p.Arg304Ser) c.3240G>C (p.Arg1080Ser) c.3027G>C (p.Arg1009Ser) | |
| 11 | g.121577372G= | CA2004947512 | SORL1 | c.3552G= (p.Arg1184=) c.384G= (p.Arg128=) c.90G= (p.Arg30=) c.282G= (p.Arg94=) c.3438G= (p.Arg1146=) c.2013G= (p.Arg671=) c.912G= (p.Arg304=) c.3240G= (p.Arg1080=) c.3027G= (p.Arg1009=) | |
| 11 | g.121577372G>T | CA383024925 | SORL1 | c.3552G>T (p.Arg1184Ser) c.384G>T (p.Arg128Ser) c.90G>T (p.Arg30Ser) c.282G>T (p.Arg94Ser) c.3438G>T (p.Arg1146Ser) c.2013G>T (p.Arg671Ser) c.912G>T (p.Arg304Ser) c.3240G>T (p.Arg1080Ser) c.3027G>T (p.Arg1009Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.121577373G>A | CA383024926 | SORL1 | c.3553G>A (p.Asp1185Asn) c.385G>A (p.Asp129Asn) c.91G>A (p.Asp31Asn) c.283G>A (p.Asp95Asn) c.3439G>A (p.Asp1147Asn) c.2014G>A (p.Asp672Asn) c.913G>A (p.Asp305Asn) c.3241G>A (p.Asp1081Asn) c.3028G>A (p.Asp1010Asn) | COSMIC |
| 11 | g.121577373G>C | CA383024927 | SORL1 | c.3553G>C (p.Asp1185His) c.385G>C (p.Asp129His) c.91G>C (p.Asp31His) c.283G>C (p.Asp95His) c.3439G>C (p.Asp1147His) c.2014G>C (p.Asp672His) c.913G>C (p.Asp305His) c.3241G>C (p.Asp1081His) c.3028G>C (p.Asp1010His) | |
| 11 | g.121577373G>T | CA383024928 | SORL1 | c.3553G>T (p.Asp1185Tyr) c.385G>T (p.Asp129Tyr) c.91G>T (p.Asp31Tyr) c.283G>T (p.Asp95Tyr) c.3439G>T (p.Asp1147Tyr) c.2014G>T (p.Asp672Tyr) c.913G>T (p.Asp305Tyr) c.3241G>T (p.Asp1081Tyr) c.3028G>T (p.Asp1010Tyr) | dbSNP |
| 11 | g.121577374A>C | CA383024929 | SORL1 | c.3554A>C (p.Asp1185Ala) c.386A>C (p.Asp129Ala) c.92A>C (p.Asp31Ala) c.284A>C (p.Asp95Ala) c.3440A>C (p.Asp1147Ala) c.2015A>C (p.Asp672Ala) c.914A>C (p.Asp305Ala) c.3242A>C (p.Asp1081Ala) c.3029A>C (p.Asp1010Ala) | |
| 11 | g.121577374A>G | CA383024930 | SORL1 | c.3554A>G (p.Asp1185Gly) c.386A>G (p.Asp129Gly) c.92A>G (p.Asp31Gly) c.284A>G (p.Asp95Gly) c.3440A>G (p.Asp1147Gly) c.2015A>G (p.Asp672Gly) c.914A>G (p.Asp305Gly) c.3242A>G (p.Asp1081Gly) c.3029A>G (p.Asp1010Gly) | gnomAD v4 |
| 11 | g.121577374A>T | CA383024931 | SORL1 | c.3554A>T (p.Asp1185Val) c.386A>T (p.Asp129Val) c.92A>T (p.Asp31Val) c.284A>T (p.Asp95Val) c.3440A>T (p.Asp1147Val) c.2015A>T (p.Asp672Val) c.914A>T (p.Asp305Val) c.3242A>T (p.Asp1081Val) c.3029A>T (p.Asp1010Val) | |
| 11 | g.121577375C>A | CA383024932 | SORL1 | c.3555C>A (p.Asp1185Glu) c.387C>A (p.Asp129Glu) c.93C>A (p.Asp31Glu) c.285C>A (p.Asp95Glu) c.3441C>A (p.Asp1147Glu) c.2016C>A (p.Asp672Glu) c.915C>A (p.Asp305Glu) c.3243C>A (p.Asp1081Glu) c.3030C>A (p.Asp1010Glu) |