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.1753526A>C | CA379092345 | CTSD | c.1216T>G (p.Phe406Val) c.1111T>G (p.Phe371Val) c.634+7T>G c.*382T>G (n.*382T>G) c.1333T>G (p.Phe445Val) c.1071+277T>G (n.1071+277T>G) c.1195T>G (p.Phe399Val) c.72+277T>G (n.72+277T>G) c.1210T>G (p.Phe404Val) n.814T>G n.3644T>G c.1198T>G (p.Phe400Val) c.1207T>G (p.Phe403Val) n.524T>G c.*1077T>G (n.*1077T>G) c.471+277T>G (n.471+277T>G) c.547T>G (p.Phe183Val) | |
| 11 | g.1753526A>G | CA379092346 | CTSD | c.1216T>C (p.Phe406Leu) c.1111T>C (p.Phe371Leu) c.634+7T>C c.*382T>C (n.*382T>C) c.1333T>C (p.Phe445Leu) c.1071+277T>C (n.1071+277T>C) c.1195T>C (p.Phe399Leu) c.72+277T>C (n.72+277T>C) c.1210T>C (p.Phe404Leu) n.814T>C n.3644T>C c.1198T>C (p.Phe400Leu) c.1207T>C (p.Phe403Leu) n.524T>C c.*1077T>C (n.*1077T>C) c.471+277T>C (n.471+277T>C) c.547T>C (p.Phe183Leu) | |
| 11 | g.1753526A>T | CA379092347 | CTSD | c.1216T>A (p.Phe406Ile) c.1111T>A (p.Phe371Ile) c.634+7T>A c.*382T>A (n.*382T>A) c.1333T>A (p.Phe445Ile) c.1071+277T>A (n.1071+277T>A) c.1195T>A (p.Phe399Ile) c.72+277T>A (n.72+277T>A) c.1210T>A (p.Phe404Ile) n.814T>A n.3644T>A c.1198T>A (p.Phe400Ile) c.1207T>A (p.Phe403Ile) n.524T>A c.*1077T>A (n.*1077T>A) c.471+277T>A (n.471+277T>A) c.547T>A (p.Phe183Ile) | |
| 11 | g.1753527G>A | CA472139532 | CTSD | c.1215C>T (p.Gly405=) c.1110C>T (p.Gly370=) c.634+6C>T c.*381C>T (n.*381C>T) c.1332C>T (p.Gly444=) c.1071+276C>T (n.1071+276C>T) c.1194C>T (p.Gly398=) c.72+276C>T (n.72+276C>T) c.1209C>T (p.Gly403=) n.813C>T n.3643C>T c.1197C>T (p.Gly399=) c.1206C>T (p.Gly402=) n.523C>T c.*1076C>T (n.*1076C>T) c.471+276C>T (n.471+276C>T) c.546C>T (p.Gly182=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.1753527G>C | CA472139534 | CTSD | c.1215C>G (p.Gly405=) c.1110C>G (p.Gly370=) c.634+6C>G c.*381C>G (n.*381C>G) c.1332C>G (p.Gly444=) c.1071+276C>G (n.1071+276C>G) c.1194C>G (p.Gly398=) c.72+276C>G (n.72+276C>G) c.1209C>G (p.Gly403=) n.813C>G n.3643C>G c.1197C>G (p.Gly399=) c.1206C>G (p.Gly402=) n.523C>G c.*1076C>G (n.*1076C>G) c.471+276C>G (n.471+276C>G) c.546C>G (p.Gly182=) | |
| 11 | g.1753527G= | CA1947825099 | CTSD | c.1215C= (p.Gly405=) c.1110C= (p.Gly370=) c.634+6C= c.*381C= (n.*381C=) c.1332C= (p.Gly444=) c.1071+276C= (n.1071+276C=) c.1194C= (p.Gly398=) c.72+276C= (n.72+276C=) c.1209C= (p.Gly403=) n.813C= n.3643C= c.1197C= (p.Gly399=) c.1206C= (p.Gly402=) n.523C= c.*1076C= (n.*1076C=) c.471+276C= (n.471+276C=) c.546C= (p.Gly182=) | |
| 11 | g.1753527G>T | CA152535 | CTSD | c.1215C>A (p.Gly405=) c.1110C>A (p.Gly370=) c.634+6C>A c.*381C>A (n.*381C>A) c.1332C>A (p.Gly444=) c.1071+276C>A (n.1071+276C>A) c.1194C>A (p.Gly398=) c.72+276C>A (n.72+276C>A) c.1209C>A (p.Gly403=) n.813C>A n.3643C>A c.1197C>A (p.Gly399=) c.1206C>A (p.Gly402=) n.523C>A c.*1076C>A (n.*1076C>A) c.471+276C>A (n.471+276C>A) c.546C>A (p.Gly182=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1753528C>A | CA379092348 | CTSD | c.1214G>T (p.Gly405Val) c.1109G>T (p.Gly370Val) c.634+5G>T c.*380G>T (n.*380G>T) c.1331G>T (p.Gly444Val) c.1071+275G>T (n.1071+275G>T) c.1193G>T (p.Gly398Val) c.72+275G>T (n.72+275G>T) c.1208G>T (p.Gly403Val) n.812G>T n.3642G>T c.1196G>T (p.Gly399Val) c.1205G>T (p.Gly402Val) n.522G>T c.*1075G>T (n.*1075G>T) c.471+275G>T (n.471+275G>T) c.545G>T (p.Gly182Val) | |
| 11 | g.1753528C= | CA1947825100 | CTSD | c.1214G= (p.Gly405=) c.1109G= (p.Gly370=) c.634+5G= c.*380G= (n.*380G=) c.1331G= (p.Gly444=) c.1071+275G= (n.1071+275G=) c.1193G= (p.Gly398=) c.72+275G= (n.72+275G=) c.1208G= (p.Gly403=) n.812G= n.3642G= c.1196G= (p.Gly399=) c.1205G= (p.Gly402=) n.522G= c.*1075G= (n.*1075G=) c.471+275G= (n.471+275G=) c.545G= (p.Gly182=) | |
| 11 | g.1753528C>G | CA379092349 | CTSD | c.1214G>C (p.Gly405Ala) c.1109G>C (p.Gly370Ala) c.634+5G>C c.*380G>C (n.*380G>C) c.1331G>C (p.Gly444Ala) c.1071+275G>C (n.1071+275G>C) c.1193G>C (p.Gly398Ala) c.72+275G>C (n.72+275G>C) c.1208G>C (p.Gly403Ala) n.812G>C n.3642G>C c.1196G>C (p.Gly399Ala) c.1205G>C (p.Gly402Ala) n.522G>C c.*1075G>C (n.*1075G>C) c.471+275G>C (n.471+275G>C) c.545G>C (p.Gly182Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.1753528C>T | CA379092350 | CTSD | c.1214G>A (p.Gly405Asp) c.1109G>A (p.Gly370Asp) c.634+5G>A c.*380G>A (n.*380G>A) c.1331G>A (p.Gly444Asp) c.1071+275G>A (n.1071+275G>A) c.1193G>A (p.Gly398Asp) c.72+275G>A (n.72+275G>A) c.1208G>A (p.Gly403Asp) n.812G>A n.3642G>A c.1196G>A (p.Gly399Asp) c.1205G>A (p.Gly402Asp) n.522G>A c.*1075G>A (n.*1075G>A) c.471+275G>A (n.471+275G>A) c.545G>A (p.Gly182Asp) | gnomAD v4 |
| 11 | g.1753529C>A | CA379092352 | CTSD | c.1213G>T (p.Gly405Cys) c.1108G>T (p.Gly370Cys) c.634+4G>T c.*379G>T (n.*379G>T) c.1330G>T (p.Gly444Cys) c.1071+274G>T (n.1071+274G>T) c.1192G>T (p.Gly398Cys) c.72+274G>T (n.72+274G>T) c.1207G>T (p.Gly403Cys) n.811G>T n.3641G>T c.1195G>T (p.Gly399Cys) c.1204G>T (p.Gly402Cys) n.521G>T c.*1074G>T (n.*1074G>T) c.471+274G>T (n.471+274G>T) c.544G>T (p.Gly182Cys) | gnomAD v4 |
| 11 | g.1753529C>G | CA379092353 | CTSD | c.1213G>C (p.Gly405Arg) c.1108G>C (p.Gly370Arg) c.634+4G>C c.*379G>C (n.*379G>C) c.1330G>C (p.Gly444Arg) c.1071+274G>C (n.1071+274G>C) c.1192G>C (p.Gly398Arg) c.72+274G>C (n.72+274G>C) c.1207G>C (p.Gly403Arg) n.811G>C n.3641G>C c.1195G>C (p.Gly399Arg) c.1204G>C (p.Gly402Arg) n.521G>C c.*1074G>C (n.*1074G>C) c.471+274G>C (n.471+274G>C) c.544G>C (p.Gly182Arg) | |
| 11 | g.1753529C>T | CA379092351 | CTSD | c.1213G>A (p.Gly405Ser) c.1108G>A (p.Gly370Ser) c.634+4G>A c.*379G>A (n.*379G>A) c.1330G>A (p.Gly444Ser) c.1071+274G>A (n.1071+274G>A) c.1192G>A (p.Gly398Ser) c.72+274G>A (n.72+274G>A) c.1207G>A (p.Gly403Ser) n.811G>A n.3641G>A c.1195G>A (p.Gly399Ser) c.1204G>A (p.Gly402Ser) n.521G>A c.*1074G>A (n.*1074G>A) c.471+274G>A (n.471+274G>A) c.544G>A (p.Gly182Ser) | ClinVar |
| 11 | g.1753530C>A | CA472139551 | CTSD | c.1212G>T (p.Val404=) c.1107G>T (p.Val369=) c.634+3G>T c.*378G>T (n.*378G>T) c.1329G>T (p.Val443=) c.1071+273G>T (n.1071+273G>T) c.1191G>T (p.Val397=) c.72+273G>T (n.72+273G>T) c.1206G>T (p.Val402=) n.810G>T n.3640G>T c.1194G>T (p.Val398=) c.1203G>T (p.Val401=) n.520G>T c.*1073G>T (n.*1073G>T) c.471+273G>T (n.471+273G>T) c.543G>T (p.Val181=) | |
| 11 | g.1753530C>G | CA472139550 | CTSD | c.1212G>C (p.Val404=) c.1107G>C (p.Val369=) c.634+3G>C c.*378G>C (n.*378G>C) c.1329G>C (p.Val443=) c.1071+273G>C (n.1071+273G>C) c.1191G>C (p.Val397=) c.72+273G>C (n.72+273G>C) c.1206G>C (p.Val402=) n.810G>C n.3640G>C c.1194G>C (p.Val398=) c.1203G>C (p.Val401=) n.520G>C c.*1073G>C (n.*1073G>C) c.471+273G>C (n.471+273G>C) c.543G>C (p.Val181=) | |
| 11 | g.1753530C>T | CA472139553 | CTSD | c.1212G>A (p.Val404=) c.1107G>A (p.Val369=) c.634+3G>A c.*378G>A (n.*378G>A) c.1329G>A (p.Val443=) c.1071+273G>A (n.1071+273G>A) c.1191G>A (p.Val397=) c.72+273G>A (n.72+273G>A) c.1206G>A (p.Val402=) n.810G>A n.3640G>A c.1194G>A (p.Val398=) c.1203G>A (p.Val401=) n.520G>A c.*1073G>A (n.*1073G>A) c.471+273G>A (n.471+273G>A) c.543G>A (p.Val181=) | gnomAD v4 |
| 11 | g.1753531A= | CA1947825101 | CTSD | c.1211T= (p.Val404=) c.1106T= (p.Val369=) c.634+2T= c.*377T= (n.*377T=) c.1328T= (p.Val443=) c.1071+272T= (n.1071+272T=) c.1190T= (p.Val397=) c.72+272T= (n.72+272T=) c.1205T= (p.Val402=) n.809T= n.3639T= c.1193T= (p.Val398=) c.1202T= (p.Val401=) n.519T= c.*1072T= (n.*1072T=) c.471+272T= (n.471+272T=) c.542T= (p.Val181=) | |
| 11 | g.1753531A>C | CA314336 | CTSD | c.1211T>G (p.Val404Gly) c.1106T>G (p.Val369Gly) c.634+2T>G c.*377T>G (n.*377T>G) c.1328T>G (p.Val443Gly) c.1071+272T>G (n.1071+272T>G) c.1190T>G (p.Val397Gly) c.72+272T>G (n.72+272T>G) c.1205T>G (p.Val402Gly) n.809T>G n.3639T>G c.1193T>G (p.Val398Gly) c.1202T>G (p.Val401Gly) n.519T>G c.*1072T>G (n.*1072T>G) c.471+272T>G (n.471+272T>G) c.542T>G (p.Val181Gly) | ClinVar dbSNP gnomAD v4 |
| 11 | g.1753531A>G | CA379092354 | CTSD | c.1211T>C (p.Val404Ala) c.1106T>C (p.Val369Ala) c.634+2T>C c.*377T>C (n.*377T>C) c.1328T>C (p.Val443Ala) c.1071+272T>C (n.1071+272T>C) c.1190T>C (p.Val397Ala) c.72+272T>C (n.72+272T>C) c.1205T>C (p.Val402Ala) n.809T>C n.3639T>C c.1193T>C (p.Val398Ala) c.1202T>C (p.Val401Ala) n.519T>C c.*1072T>C (n.*1072T>C) c.471+272T>C (n.471+272T>C) c.542T>C (p.Val181Ala) | |
| 11 | g.1753531A>T | CA379092356 | CTSD | c.1211T>A (p.Val404Glu) c.1106T>A (p.Val369Glu) c.634+2T>A c.*377T>A (n.*377T>A) c.1328T>A (p.Val443Glu) c.1071+272T>A (n.1071+272T>A) c.1190T>A (p.Val397Glu) c.72+272T>A (n.72+272T>A) c.1205T>A (p.Val402Glu) n.809T>A n.3639T>A c.1193T>A (p.Val398Glu) c.1202T>A (p.Val401Glu) n.519T>A c.*1072T>A (n.*1072T>A) c.471+272T>A (n.471+272T>A) c.542T>A (p.Val181Glu) | |
| 11 | g.1753532C>A | CA379092357 | CTSD | c.1210G>T (p.Val404Leu) c.1105G>T (p.Val369Leu) c.634+1G>T c.*376G>T (n.*376G>T) c.1327G>T (p.Val443Leu) c.1071+271G>T (n.1071+271G>T) c.1189G>T (p.Val397Leu) c.72+271G>T (n.72+271G>T) c.1204G>T (p.Val402Leu) n.808G>T n.3638G>T c.1192G>T (p.Val398Leu) c.1201G>T (p.Val401Leu) n.518G>T c.*1071G>T (n.*1071G>T) c.471+271G>T (n.471+271G>T) c.541G>T (p.Val181Leu) | ClinVar dbSNP |
| 11 | g.1753532C= | CA1947825102 | CTSD | c.1210G= (p.Val404=) c.1105G= (p.Val369=) c.634+1G= c.*376G= (n.*376G=) c.1327G= (p.Val443=) c.1071+271G= (n.1071+271G=) c.1189G= (p.Val397=) c.72+271G= (n.72+271G=) c.1204G= (p.Val402=) n.808G= n.3638G= c.1192G= (p.Val398=) c.1201G= (p.Val401=) n.518G= c.*1071G= (n.*1071G=) c.471+271G= (n.471+271G=) c.541G= (p.Val181=) | |
| 11 | g.1753532C>G | CA379092358 | CTSD | c.1210G>C (p.Val404Leu) c.1105G>C (p.Val369Leu) c.634+1G>C c.*376G>C (n.*376G>C) c.1327G>C (p.Val443Leu) c.1071+271G>C (n.1071+271G>C) c.1189G>C (p.Val397Leu) c.72+271G>C (n.72+271G>C) c.1204G>C (p.Val402Leu) n.808G>C n.3638G>C c.1192G>C (p.Val398Leu) c.1201G>C (p.Val401Leu) n.518G>C c.*1071G>C (n.*1071G>C) c.471+271G>C (n.471+271G>C) c.541G>C (p.Val181Leu) | |
| 11 | g.1753532C>T | CA5813874 | CTSD | c.1210G>A (p.Val404Met) c.1105G>A (p.Val369Met) c.634+1G>A c.*376G>A (n.*376G>A) c.1327G>A (p.Val443Met) c.1071+271G>A (n.1071+271G>A) c.1189G>A (p.Val397Met) c.72+271G>A (n.72+271G>A) c.1204G>A (p.Val402Met) n.808G>A n.3638G>A c.1192G>A (p.Val398Met) c.1201G>A (p.Val401Met) n.518G>A c.*1071G>A (n.*1071G>A) c.471+271G>A (n.471+271G>A) c.541G>A (p.Val181Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1753533C>A | CA379092359 | CTSD | c.1209G>T (p.Arg403Ser) c.1104G>T (p.Arg368Ser) c.634G>T c.*375G>T (n.*375G>T) c.1326G>T (p.Arg442Ser) c.1071+270G>T (n.1071+270G>T) c.1188G>T (p.Arg396Ser) c.72+270G>T (n.72+270G>T) c.1203G>T (p.Arg401Ser) n.807G>T n.3637G>T c.1191G>T (p.Arg397Ser) c.1200G>T (p.Arg400Ser) n.517G>T c.*1070G>T (n.*1070G>T) c.471+270G>T (n.471+270G>T) c.540G>T (p.Arg180Ser) | |
| 11 | g.1753533C= | CA1947825103 | CTSD | c.1209G= (p.Arg403=) c.1104G= (p.Arg368=) c.634G= c.*375G= (n.*375G=) c.1326G= (p.Arg442=) c.1071+270G= (n.1071+270G=) c.1188G= (p.Arg396=) c.72+270G= (n.72+270G=) c.1203G= (p.Arg401=) n.807G= n.3637G= c.1191G= (p.Arg397=) c.1200G= (p.Arg400=) n.517G= c.*1070G= (n.*1070G=) c.471+270G= (n.471+270G=) c.540G= (p.Arg180=) | |
| 11 | g.1753533C>G | CA379092360 | CTSD | c.1209G>C (p.Arg403Ser) c.1104G>C (p.Arg368Ser) c.634G>C c.*375G>C (n.*375G>C) c.1326G>C (p.Arg442Ser) c.1071+270G>C (n.1071+270G>C) c.1188G>C (p.Arg396Ser) c.72+270G>C (n.72+270G>C) c.1203G>C (p.Arg401Ser) n.807G>C n.3637G>C c.1191G>C (p.Arg397Ser) c.1200G>C (p.Arg400Ser) n.517G>C c.*1070G>C (n.*1070G>C) c.471+270G>C (n.471+270G>C) c.540G>C (p.Arg180Ser) | |
| 11 | g.1753533C>T | CA5813875 | CTSD | c.1209G>A (p.Arg403=) c.1104G>A (p.Arg368=) c.634G>A c.*375G>A (n.*375G>A) c.1326G>A (p.Arg442=) c.1071+270G>A (n.1071+270G>A) c.1188G>A (p.Arg396=) c.72+270G>A (n.72+270G>A) c.1203G>A (p.Arg401=) n.807G>A n.3637G>A c.1191G>A (p.Arg397=) c.1200G>A (p.Arg400=) n.517G>A c.*1070G>A (n.*1070G>A) c.471+270G>A (n.471+270G>A) c.540G>A (p.Arg180=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1753534C>A | CA379092361 | CTSD | c.1208G>T (p.Arg403Met) c.1103G>T (p.Arg368Met) c.633G>T c.*374G>T (n.*374G>T) c.1325G>T (p.Arg442Met) c.1071+269G>T (n.1071+269G>T) c.1187G>T (p.Arg396Met) c.72+269G>T (n.72+269G>T) c.1202G>T (p.Arg401Met) n.806G>T n.3636G>T c.1190G>T (p.Arg397Met) c.1199G>T (p.Arg400Met) n.516G>T c.*1069G>T (n.*1069G>T) c.471+269G>T (n.471+269G>T) c.539G>T (p.Arg180Met) | |
| 11 | g.1753534C= | CA1947825104 | CTSD | c.1208G= (p.Arg403=) c.1103G= (p.Arg368=) c.633G= c.*374G= (n.*374G=) c.1325G= (p.Arg442=) c.1071+269G= (n.1071+269G=) c.1187G= (p.Arg396=) c.72+269G= (n.72+269G=) c.1202G= (p.Arg401=) n.806G= n.3636G= c.1190G= (p.Arg397=) c.1199G= (p.Arg400=) n.516G= c.*1069G= (n.*1069G=) c.471+269G= (n.471+269G=) c.539G= (p.Arg180=) | |
| 11 | g.1753534C>G | CA5813876 | CTSD | c.1208G>C (p.Arg403Thr) c.1103G>C (p.Arg368Thr) c.633G>C c.*374G>C (n.*374G>C) c.1325G>C (p.Arg442Thr) c.1071+269G>C (n.1071+269G>C) c.1187G>C (p.Arg396Thr) c.72+269G>C (n.72+269G>C) c.1202G>C (p.Arg401Thr) n.806G>C n.3636G>C c.1190G>C (p.Arg397Thr) c.1199G>C (p.Arg400Thr) n.516G>C c.*1069G>C (n.*1069G>C) c.471+269G>C (n.471+269G>C) c.539G>C (p.Arg180Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.1753534C>T | CA379092362 | CTSD | c.1208G>A (p.Arg403Lys) c.1103G>A (p.Arg368Lys) c.633G>A c.*374G>A (n.*374G>A) c.1325G>A (p.Arg442Lys) c.1071+269G>A (n.1071+269G>A) c.1187G>A (p.Arg396Lys) c.72+269G>A (n.72+269G>A) c.1202G>A (p.Arg401Lys) n.806G>A n.3636G>A c.1190G>A (p.Arg397Lys) c.1199G>A (p.Arg400Lys) n.516G>A c.*1069G>A (n.*1069G>A) c.471+269G>A (n.471+269G>A) c.539G>A (p.Arg180Lys) | gnomAD v4 |
| 11 | g.1753535T>A | CA379092364 | CTSD | c.1207A>T (p.Arg403Trp) c.1102A>T (p.Arg368Trp) c.632A>T c.*373A>T (n.*373A>T) c.1324A>T (p.Arg442Trp) c.1071+268A>T (n.1071+268A>T) c.1186A>T (p.Arg396Trp) c.72+268A>T (n.72+268A>T) c.1201A>T (p.Arg401Trp) n.805A>T n.3635A>T c.1189A>T (p.Arg397Trp) c.1198A>T (p.Arg400Trp) n.515A>T c.*1068A>T (n.*1068A>T) c.471+268A>T (n.471+268A>T) c.538A>T (p.Arg180Trp) | |
| 11 | g.1753535T>C | CA379092363 | CTSD | c.1207A>G (p.Arg403Gly) c.1102A>G (p.Arg368Gly) c.632A>G c.*373A>G (n.*373A>G) c.1324A>G (p.Arg442Gly) c.1071+268A>G (n.1071+268A>G) c.1186A>G (p.Arg396Gly) c.72+268A>G (n.72+268A>G) c.1201A>G (p.Arg401Gly) n.805A>G n.3635A>G c.1189A>G (p.Arg397Gly) c.1198A>G (p.Arg400Gly) n.515A>G c.*1068A>G (n.*1068A>G) c.471+268A>G (n.471+268A>G) c.538A>G (p.Arg180Gly) | dbSNP |
| 11 | g.1753535T>G | CA472139603 | CTSD | c.1207A>C (p.Arg403=) c.1102A>C (p.Arg368=) c.632A>C c.*373A>C (n.*373A>C) c.1324A>C (p.Arg442=) c.1071+268A>C (n.1071+268A>C) c.1186A>C (p.Arg396=) c.72+268A>C (n.72+268A>C) c.1201A>C (p.Arg401=) n.805A>C n.3635A>C c.1189A>C (p.Arg397=) c.1198A>C (p.Arg400=) n.515A>C c.*1068A>C (n.*1068A>C) c.471+268A>C (n.471+268A>C) c.538A>C (p.Arg180=) | |
| 11 | g.1753535T= | CA1947825105 | CTSD | c.1207A= (p.Arg403=) c.1102A= (p.Arg368=) c.632A= c.*373A= (n.*373A=) c.1324A= (p.Arg442=) c.1071+268A= (n.1071+268A=) c.1186A= (p.Arg396=) c.72+268A= (n.72+268A=) c.1201A= (p.Arg401=) n.805A= n.3635A= c.1189A= (p.Arg397=) c.1198A= (p.Arg400=) n.515A= c.*1068A= (n.*1068A=) c.471+268A= (n.471+268A=) c.538A= (p.Arg180=) | |
| 11 | g.1753541_1753543del | CA2580616895 | CTSD | c.1205_1207del (p.Asn402del) c.1100_1102del (p.Asn367del) c.630_632del c.*371_*373del (n.*371_*373del) c.1322_1324del (p.Asn441del) c.1071+266_1071+268del (n.1071+266_1071+268del) c.1184_1186del (p.Asn395del) c.72+266_72+268del (n.72+266_72+268del) c.1199_1201del (p.Asn400del) n.803_805del n.3633_3635del c.1187_1189del (p.Asn396del) c.1196_1198del (p.Asn399del) n.513_515del c.*1066_*1068del (n.*1066_*1068del) c.471+266_471+268del (n.471+266_471+268del) c.536_538del (p.Asn179del) | ClinVar dbSNP |
| 11 | g.1753536G>A | CA472139622 | CTSD | c.1206C>T (p.Asn402=) c.1101C>T (p.Asn367=) c.631C>T c.*372C>T (n.*372C>T) c.1323C>T (p.Asn441=) c.1071+267C>T (n.1071+267C>T) c.1185C>T (p.Asn395=) c.72+267C>T (n.72+267C>T) c.1200C>T (p.Asn400=) n.804C>T n.3634C>T c.1188C>T (p.Asn396=) c.1197C>T (p.Asn399=) n.514C>T c.*1067C>T (n.*1067C>T) c.471+267C>T (n.471+267C>T) c.537C>T (p.Asn179=) | ClinVar |
| 11 | g.1753536G>C | CA379092365 | CTSD | c.1206C>G (p.Asn402Lys) c.1101C>G (p.Asn367Lys) c.631C>G c.*372C>G (n.*372C>G) c.1323C>G (p.Asn441Lys) c.1071+267C>G (n.1071+267C>G) c.1185C>G (p.Asn395Lys) c.72+267C>G (n.72+267C>G) c.1200C>G (p.Asn400Lys) n.804C>G n.3634C>G c.1188C>G (p.Asn396Lys) c.1197C>G (p.Asn399Lys) n.514C>G c.*1067C>G (n.*1067C>G) c.471+267C>G (n.471+267C>G) c.537C>G (p.Asn179Lys) | |
| 11 | g.1753536G>T | CA379092366 | CTSD | c.1206C>A (p.Asn402Lys) c.1101C>A (p.Asn367Lys) c.631C>A c.*372C>A (n.*372C>A) c.1323C>A (p.Asn441Lys) c.1071+267C>A (n.1071+267C>A) c.1185C>A (p.Asn395Lys) c.72+267C>A (n.72+267C>A) c.1200C>A (p.Asn400Lys) n.804C>A n.3634C>A c.1188C>A (p.Asn396Lys) c.1197C>A (p.Asn399Lys) n.514C>A c.*1067C>A (n.*1067C>A) c.471+267C>A (n.471+267C>A) c.537C>A (p.Asn179Lys) | |
| 11 | g.1753537T>A | CA379092367 | CTSD | c.1205A>T (p.Asn402Ile) c.1100A>T (p.Asn367Ile) c.630A>T c.*371A>T (n.*371A>T) c.1322A>T (p.Asn441Ile) c.1071+266A>T (n.1071+266A>T) c.1184A>T (p.Asn395Ile) c.72+266A>T (n.72+266A>T) c.1199A>T (p.Asn400Ile) n.803A>T n.3633A>T c.1187A>T (p.Asn396Ile) c.1196A>T (p.Asn399Ile) n.513A>T c.*1066A>T (n.*1066A>T) c.471+266A>T (n.471+266A>T) c.536A>T (p.Asn179Ile) | |
| 11 | g.1753537T>C | CA379092368 | CTSD | c.1205A>G (p.Asn402Ser) c.1100A>G (p.Asn367Ser) c.630A>G c.*371A>G (n.*371A>G) c.1322A>G (p.Asn441Ser) c.1071+266A>G (n.1071+266A>G) c.1184A>G (p.Asn395Ser) c.72+266A>G (n.72+266A>G) c.1199A>G (p.Asn400Ser) n.803A>G n.3633A>G c.1187A>G (p.Asn396Ser) c.1196A>G (p.Asn399Ser) n.513A>G c.*1066A>G (n.*1066A>G) c.471+266A>G (n.471+266A>G) c.536A>G (p.Asn179Ser) | |
| 11 | g.1753537T>G | CA379092369 | CTSD | c.1205A>C (p.Asn402Thr) c.1100A>C (p.Asn367Thr) c.630A>C c.*371A>C (n.*371A>C) c.1322A>C (p.Asn441Thr) c.1071+266A>C (n.1071+266A>C) c.1184A>C (p.Asn395Thr) c.72+266A>C (n.72+266A>C) c.1199A>C (p.Asn400Thr) n.803A>C n.3633A>C c.1187A>C (p.Asn396Thr) c.1196A>C (p.Asn399Thr) n.513A>C c.*1066A>C (n.*1066A>C) c.471+266A>C (n.471+266A>C) c.536A>C (p.Asn179Thr) | |
| 11 | g.1753538T>A | CA379092370 | CTSD | c.1204A>T (p.Asn402Tyr) c.1099A>T (p.Asn367Tyr) c.629A>T c.*370A>T (n.*370A>T) c.1321A>T (p.Asn441Tyr) c.1071+265A>T (n.1071+265A>T) c.1183A>T (p.Asn395Tyr) c.72+265A>T (n.72+265A>T) c.1198A>T (p.Asn400Tyr) n.802A>T n.3632A>T c.1186A>T (p.Asn396Tyr) c.1195A>T (p.Asn399Tyr) n.512A>T c.*1065A>T (n.*1065A>T) c.471+265A>T (n.471+265A>T) c.535A>T (p.Asn179Tyr) | |
| 11 | g.1753538T>C | CA379092371 | CTSD | c.1204A>G (p.Asn402Asp) c.1099A>G (p.Asn367Asp) c.629A>G c.*370A>G (n.*370A>G) c.1321A>G (p.Asn441Asp) c.1071+265A>G (n.1071+265A>G) c.1183A>G (p.Asn395Asp) c.72+265A>G (n.72+265A>G) c.1198A>G (p.Asn400Asp) n.802A>G n.3632A>G c.1186A>G (p.Asn396Asp) c.1195A>G (p.Asn399Asp) n.512A>G c.*1065A>G (n.*1065A>G) c.471+265A>G (n.471+265A>G) c.535A>G (p.Asn179Asp) | ClinVar gnomAD v4 |
| 11 | g.1753538T>G | CA379092372 | CTSD | c.1204A>C (p.Asn402His) c.1099A>C (p.Asn367His) c.629A>C c.*370A>C (n.*370A>C) c.1321A>C (p.Asn441His) c.1071+265A>C (n.1071+265A>C) c.1183A>C (p.Asn395His) c.72+265A>C (n.72+265A>C) c.1198A>C (p.Asn400His) n.802A>C n.3632A>C c.1186A>C (p.Asn396His) c.1195A>C (p.Asn399His) n.512A>C c.*1065A>C (n.*1065A>C) c.471+265A>C (n.471+265A>C) c.535A>C (p.Asn179His) | |
| 11 | g.1753539G>A | CA472139658 | CTSD | c.1203C>T (p.Asn401=) c.1098C>T (p.Asn366=) c.628C>T c.*369C>T (n.*369C>T) c.1320C>T (p.Asn440=) c.1071+264C>T (n.1071+264C>T) c.1182C>T (p.Asn394=) c.72+264C>T (n.72+264C>T) c.1197C>T (p.Asn399=) n.801C>T n.3631C>T c.1185C>T (p.Asn395=) c.1194C>T (p.Asn398=) n.511C>T c.*1064C>T (n.*1064C>T) c.471+264C>T (n.471+264C>T) c.534C>T (p.Asn178=) | |
| 11 | g.1753539G>C | CA379092373 | CTSD | c.1203C>G (p.Asn401Lys) c.1098C>G (p.Asn366Lys) c.628C>G c.*369C>G (n.*369C>G) c.1320C>G (p.Asn440Lys) c.1071+264C>G (n.1071+264C>G) c.1182C>G (p.Asn394Lys) c.72+264C>G (n.72+264C>G) c.1197C>G (p.Asn399Lys) n.801C>G n.3631C>G c.1185C>G (p.Asn395Lys) c.1194C>G (p.Asn398Lys) n.511C>G c.*1064C>G (n.*1064C>G) c.471+264C>G (n.471+264C>G) c.534C>G (p.Asn178Lys) | |
| 11 | g.1753539G>T | CA379092374 | CTSD | c.1203C>A (p.Asn401Lys) c.1098C>A (p.Asn366Lys) c.628C>A c.*369C>A (n.*369C>A) c.1320C>A (p.Asn440Lys) c.1071+264C>A (n.1071+264C>A) c.1182C>A (p.Asn394Lys) c.72+264C>A (n.72+264C>A) c.1197C>A (p.Asn399Lys) n.801C>A n.3631C>A c.1185C>A (p.Asn395Lys) c.1194C>A (p.Asn398Lys) n.511C>A c.*1064C>A (n.*1064C>A) c.471+264C>A (n.471+264C>A) c.534C>A (p.Asn178Lys) | gnomAD v4 |