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.1758970G>A | CA267592 | CTSD | c.470C>T (p.Ser157Leu) c.365C>T (p.Ser122Leu) c.449C>T (p.Ser150Leu) c.464C>T (p.Ser155Leu) n.2898C>T n.865C>T c.*331C>T (n.*331C>T) c.-131C>T (n.-131C>T) c.425C>T (p.Ser142Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.1758970G>C | CA379097166 | CTSD | c.470C>G (p.Ser157Trp) c.365C>G (p.Ser122Trp) c.449C>G (p.Ser150Trp) c.464C>G (p.Ser155Trp) n.2898C>G n.865C>G c.*331C>G (n.*331C>G) c.-131C>G (n.-131C>G) c.425C>G (p.Ser142Trp) | gnomAD v4 |
| 11 | g.1758970G= | CA1947828420 | CTSD | c.470C= (p.Ser157=) c.365C= (p.Ser122=) c.449C= (p.Ser150=) c.464C= (p.Ser155=) n.2898C= n.865C= c.*331C= (n.*331C=) c.-131C= (n.-131C=) c.425C= (p.Ser142=) | |
| 11 | g.1758970G>T | CA379097164 | CTSD | c.470C>A (p.Ser157Ter) c.365C>A (p.Ser122Ter) c.449C>A (p.Ser150Ter) c.464C>A (p.Ser155Ter) n.2898C>A n.865C>A c.*331C>A (n.*331C>A) c.-131C>A (n.-131C>A) c.425C>A (p.Ser142Ter) | gnomAD v4 |
| 11 | g.1758971A>C | CA379097169 | CTSD | c.469T>G (p.Ser157Ala) c.364T>G (p.Ser122Ala) c.448T>G (p.Ser150Ala) c.463T>G (p.Ser155Ala) n.2897T>G n.864T>G c.*330T>G (n.*330T>G) c.-132T>G (n.-132T>G) c.424T>G (p.Ser142Ala) | |
| 11 | g.1758971A>G | CA379097173 | CTSD | c.469T>C (p.Ser157Pro) c.364T>C (p.Ser122Pro) c.448T>C (p.Ser150Pro) c.463T>C (p.Ser155Pro) n.2897T>C n.864T>C c.*330T>C (n.*330T>C) c.-132T>C (n.-132T>C) c.424T>C (p.Ser142Pro) | |
| 11 | g.1758971A>T | CA379097171 | CTSD | c.469T>A (p.Ser157Thr) c.364T>A (p.Ser122Thr) c.448T>A (p.Ser150Thr) c.463T>A (p.Ser155Thr) n.2897T>A n.864T>A c.*330T>A (n.*330T>A) c.-132T>A (n.-132T>A) c.424T>A (p.Ser142Thr) | |
| 11 | g.1758974_1758975del | CA645569361 | CTSD | c.468_469del (p.Ser157GlyfsTer?) c.363_364del (p.Ser122GlyfsTer?) c.447_448del (p.Ser150GlyfsTer?) c.462_463del (p.Ser155GlyfsTer?) n.2896_2897del n.863_864del c.*329_*330del (n.*329_*330del) c.-133_-132del (n.-133_-132del) c.423_424del (p.Ser142GlyfsTer?) | ClinVar COSMIC |
| 11 | g.1758972C>A | CA471987210 | CTSD | c.468G>T (p.Val156=) c.363G>T (p.Val121=) c.447G>T (p.Val149=) c.462G>T (p.Val154=) n.2896G>T n.863G>T c.*329G>T (n.*329G>T) c.-133G>T (n.-133G>T) c.423G>T (p.Val141=) | |
| 11 | g.1758972C>G | CA471987211 | CTSD | c.468G>C (p.Val156=) c.363G>C (p.Val121=) c.447G>C (p.Val149=) c.462G>C (p.Val154=) n.2896G>C n.863G>C c.*329G>C (n.*329G>C) c.-133G>C (n.-133G>C) c.423G>C (p.Val141=) | |
| 11 | g.1758972C>T | CA471987214 | CTSD | c.468G>A (p.Val156=) c.363G>A (p.Val121=) c.447G>A (p.Val149=) c.462G>A (p.Val154=) n.2896G>A n.863G>A c.*329G>A (n.*329G>A) c.-133G>A (n.-133G>A) c.423G>A (p.Val141=) | ClinVar gnomAD v4 |
| 11 | g.1758973A>C | CA379097174 | CTSD | c.467T>G (p.Val156Gly) c.362T>G (p.Val121Gly) c.446T>G (p.Val149Gly) c.461T>G (p.Val154Gly) n.2895T>G n.862T>G c.*328T>G (n.*328T>G) c.-134T>G (n.-134T>G) c.422T>G (p.Val141Gly) | |
| 11 | g.1758973A>G | CA379097176 | CTSD | c.467T>C (p.Val156Ala) c.362T>C (p.Val121Ala) c.446T>C (p.Val149Ala) c.461T>C (p.Val154Ala) n.2895T>C n.862T>C c.*328T>C (n.*328T>C) c.-134T>C (n.-134T>C) c.422T>C (p.Val141Ala) | |
| 11 | g.1758973A>T | CA379097175 | CTSD | c.467T>A (p.Val156Glu) c.362T>A (p.Val121Glu) c.446T>A (p.Val149Glu) c.461T>A (p.Val154Glu) n.2895T>A n.862T>A c.*328T>A (n.*328T>A) c.-134T>A (n.-134T>A) c.422T>A (p.Val141Glu) | |
| 11 | g.1758974C>A | CA379097177 | CTSD | c.466G>T (p.Val156Leu) c.361G>T (p.Val121Leu) c.445G>T (p.Val149Leu) c.460G>T (p.Val154Leu) n.2894G>T n.861G>T c.*327G>T (n.*327G>T) c.-135G>T (n.-135G>T) c.421G>T (p.Val141Leu) | |
| 11 | g.1758974C= | CA1947828421 | CTSD | c.466G= (p.Val156=) c.361G= (p.Val121=) c.445G= (p.Val149=) c.460G= (p.Val154=) n.2894G= n.861G= c.*327G= (n.*327G=) c.-135G= (n.-135G=) c.421G= (p.Val141=) | |
| 11 | g.1758974C>G | CA379097178 | CTSD | c.466G>C (p.Val156Leu) c.361G>C (p.Val121Leu) c.445G>C (p.Val149Leu) c.460G>C (p.Val154Leu) n.2894G>C n.861G>C c.*327G>C (n.*327G>C) c.-135G>C (n.-135G>C) c.421G>C (p.Val141Leu) | gnomAD v4 |
| 11 | g.1758974C>T | CA5814172 | CTSD | c.466G>A (p.Val156Met) c.361G>A (p.Val121Met) c.445G>A (p.Val149Met) c.460G>A (p.Val154Met) n.2894G>A n.861G>A c.*327G>A (n.*327G>A) c.-135G>A (n.-135G>A) c.421G>A (p.Val141Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.1758974_1758975delinsTG | CA891842988 | CTSD | c.465_466delinsCA (p.Val156Met) c.360_361delinsCA (p.Val121Met) c.444_445delinsCA (p.Val149Met) c.459_460delinsCA (p.Val154Met) n.2893_2894delinsCA n.860_861delinsCA c.*326_*327delinsCA (n.*326_*327delinsCA) c.-136_-135delinsCA (n.-136_-135delinsCA) c.420_421delinsCA (p.Val141Met) | ClinVar |
| 11 | g.1758975A= | CA1947828422 | CTSD | c.465T= (p.Thr155=) c.360T= (p.Thr120=) c.444T= (p.Thr148=) c.459T= (p.Thr153=) n.2893T= n.860T= c.*326T= (n.*326T=) c.-136T= (n.-136T=) c.420T= (p.Thr140=) | |
| 11 | g.1758975A>C | CA471987231 | CTSD | c.465T>G (p.Thr155=) c.360T>G (p.Thr120=) c.444T>G (p.Thr148=) c.459T>G (p.Thr153=) n.2893T>G n.860T>G c.*326T>G (n.*326T>G) c.-136T>G (n.-136T>G) c.420T>G (p.Thr140=) | |
| 11 | g.1758975A>G | CA152537 | CTSD | c.465T>C (p.Thr155=) c.360T>C (p.Thr120=) c.444T>C (p.Thr148=) c.459T>C (p.Thr153=) n.2893T>C n.860T>C c.*326T>C (n.*326T>C) c.-136T>C (n.-136T>C) c.420T>C (p.Thr140=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1758975A>T | CA216174845 | CTSD | c.465T>A (p.Thr155=) c.360T>A (p.Thr120=) c.444T>A (p.Thr148=) c.459T>A (p.Thr153=) n.2893T>A n.860T>A c.*326T>A (n.*326T>A) c.-136T>A (n.-136T>A) c.420T>A (p.Thr140=) | dbSNP |
| 11 | g.1758975dup | CA2697558892 | CTSD | c.465dup (p.Val156CysfsTer?) c.360dup (p.Val121CysfsTer?) c.444dup (p.Val149CysfsTer?) c.459dup (p.Val154CysfsTer?) n.2893dup n.860dup c.*326dup (n.*326dup) c.-136dup (n.-136dup) c.420dup (p.Val141CysfsTer?) | ClinVar |
| 11 | g.1758975_1758976delinsAG | CA1947828423 | CTSD | c.464_465delinsCT (p.Thr155=) c.359_360delinsCT (p.Thr120=) c.443_444delinsCT (p.Thr148=) c.458_459delinsCT (p.Thr153=) n.2892_2893delinsCT n.859_860delinsCT c.*325_*326delinsCT (n.*325_*326delinsCT) c.-137_-136delinsCT (n.-137_-136delinsCT) c.419_420delinsCT (p.Thr140=) | |
| 11 | g.1758975_1758976delinsGC | CA916083165 | CTSD | c.464_465delinsGC (p.Thr155Ser) c.359_360delinsGC (p.Thr120Ser) c.443_444delinsGC (p.Thr148Ser) c.458_459delinsGC (p.Thr153Ser) n.2892_2893delinsGC n.859_860delinsGC c.*325_*326delinsGC (n.*325_*326delinsGC) c.-137_-136delinsGC (n.-137_-136delinsGC) c.419_420delinsGC (p.Thr140Ser) | ClinVar dbSNP |
| 11 | g.1758976G>A | CA379097183 | CTSD | c.464C>T (p.Thr155Ile) c.359C>T (p.Thr120Ile) c.443C>T (p.Thr148Ile) c.458C>T (p.Thr153Ile) n.2892C>T n.859C>T c.*325C>T (n.*325C>T) c.-137C>T (n.-137C>T) c.419C>T (p.Thr140Ile) | gnomAD v4 |
| 11 | g.1758976G>C | CA379097185 | CTSD | c.464C>G (p.Thr155Ser) c.359C>G (p.Thr120Ser) c.443C>G (p.Thr148Ser) c.458C>G (p.Thr153Ser) n.2892C>G n.859C>G c.*325C>G (n.*325C>G) c.-137C>G (n.-137C>G) c.419C>G (p.Thr140Ser) | gnomAD v4 |
| 11 | g.1758976G>T | CA379097187 | CTSD | c.464C>A (p.Thr155Asn) c.359C>A (p.Thr120Asn) c.443C>A (p.Thr148Asn) c.458C>A (p.Thr153Asn) n.2892C>A n.859C>A c.*325C>A (n.*325C>A) c.-137C>A (n.-137C>A) c.419C>A (p.Thr140Asn) | |
| 11 | g.1758977T>A | CA379097190 | CTSD | c.463A>T (p.Thr155Ser) c.358A>T (p.Thr120Ser) c.442A>T (p.Thr148Ser) c.457A>T (p.Thr153Ser) n.2891A>T n.858A>T c.*324A>T (n.*324A>T) c.-138A>T (n.-138A>T) c.418A>T (p.Thr140Ser) | ClinVar dbSNP |
| 11 | g.1758977T>C | CA5814173 | CTSD | c.463A>G (p.Thr155Ala) c.358A>G (p.Thr120Ala) c.442A>G (p.Thr148Ala) c.457A>G (p.Thr153Ala) n.2891A>G n.858A>G c.*324A>G (n.*324A>G) c.-138A>G (n.-138A>G) c.418A>G (p.Thr140Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1758977T>G | CA379097191 | CTSD | c.463A>C (p.Thr155Pro) c.358A>C (p.Thr120Pro) c.442A>C (p.Thr148Pro) c.457A>C (p.Thr153Pro) n.2891A>C n.858A>C c.*324A>C (n.*324A>C) c.-138A>C (n.-138A>C) c.418A>C (p.Thr140Pro) | |
| 11 | g.1758977T= | CA1947828424 | CTSD | c.463A= (p.Thr155=) c.358A= (p.Thr120=) c.442A= (p.Thr148=) c.457A= (p.Thr153=) n.2891A= n.858A= c.*324A= (n.*324A=) c.-138A= (n.-138A=) c.418A= (p.Thr140=) | |
| 11 | g.1758978G>A | CA471987251 | CTSD | c.462C>T (p.Asp154=) c.357C>T (p.Asp119=) c.441C>T (p.Asp147=) c.456C>T (p.Asp152=) n.2890C>T n.857C>T c.*323C>T (n.*323C>T) c.-139C>T (n.-139C>T) c.417C>T (p.Asp139=) | |
| 11 | g.1758978G>C | CA379097193 | CTSD | c.462C>G (p.Asp154Glu) c.357C>G (p.Asp119Glu) c.441C>G (p.Asp147Glu) c.456C>G (p.Asp152Glu) n.2890C>G n.857C>G c.*323C>G (n.*323C>G) c.-139C>G (n.-139C>G) c.417C>G (p.Asp139Glu) | |
| 11 | g.1758978G>T | CA379097195 | CTSD | c.462C>A (p.Asp154Glu) c.357C>A (p.Asp119Glu) c.441C>A (p.Asp147Glu) c.456C>A (p.Asp152Glu) n.2890C>A n.857C>A c.*323C>A (n.*323C>A) c.-139C>A (n.-139C>A) c.417C>A (p.Asp139Glu) | gnomAD v4 |
| 11 | g.1758979T>A | CA379097202 | CTSD | c.461A>T (p.Asp154Val) c.356A>T (p.Asp119Val) c.440A>T (p.Asp147Val) c.455A>T (p.Asp152Val) n.2889A>T n.856A>T c.*322A>T (n.*322A>T) c.-140A>T (n.-140A>T) c.416A>T (p.Asp139Val) | |
| 11 | g.1758979T>C | CA379097199 | CTSD | c.461A>G (p.Asp154Gly) c.356A>G (p.Asp119Gly) c.440A>G (p.Asp147Gly) c.455A>G (p.Asp152Gly) n.2889A>G n.856A>G c.*322A>G (n.*322A>G) c.-140A>G (n.-140A>G) c.416A>G (p.Asp139Gly) | gnomAD v4 |
| 11 | g.1758979T>G | CA216174850 | CTSD | c.461A>C (p.Asp154Ala) c.356A>C (p.Asp119Ala) c.440A>C (p.Asp147Ala) c.455A>C (p.Asp152Ala) n.2889A>C n.856A>C c.*322A>C (n.*322A>C) c.-140A>C (n.-140A>C) c.416A>C (p.Asp139Ala) | dbSNP |
| 11 | g.1758979T= | CA1947828425 | CTSD | c.461A= (p.Asp154=) c.356A= (p.Asp119=) c.440A= (p.Asp147=) c.455A= (p.Asp152=) n.2889A= n.856A= c.*322A= (n.*322A=) c.-140A= (n.-140A=) c.416A= (p.Asp139=) | |
| 11 | g.1758980C>A | CA379097205 | CTSD | c.460G>T (p.Asp154Tyr) c.355G>T (p.Asp119Tyr) c.439G>T (p.Asp147Tyr) c.454G>T (p.Asp152Tyr) n.2888G>T n.855G>T c.*321G>T (n.*321G>T) c.-141G>T (n.-141G>T) c.415G>T (p.Asp139Tyr) | |
| 11 | g.1758980C>G | CA379097207 | CTSD | c.460G>C (p.Asp154His) c.355G>C (p.Asp119His) c.439G>C (p.Asp147His) c.454G>C (p.Asp152His) n.2888G>C n.855G>C c.*321G>C (n.*321G>C) c.-141G>C (n.-141G>C) c.415G>C (p.Asp139His) | |
| 11 | g.1758980C>T | CA379097209 | CTSD | c.460G>A (p.Asp154Asn) c.355G>A (p.Asp119Asn) c.439G>A (p.Asp147Asn) c.454G>A (p.Asp152Asn) n.2888G>A n.855G>A c.*321G>A (n.*321G>A) c.-141G>A (n.-141G>A) c.415G>A (p.Asp139Asn) | COSMIC |
| 11 | g.1758981C>A | CA379097212 | CTSD | c.459G>T (p.Gln153His) c.354G>T (p.Gln118His) c.438G>T (p.Gln146His) c.453G>T (p.Gln151His) n.2887G>T n.854G>T c.*320G>T (n.*320G>T) c.-142G>T (n.-142G>T) c.414G>T (p.Gln138His) | |
| 11 | g.1758981C>G | CA379097214 | CTSD | c.459G>C (p.Gln153His) c.354G>C (p.Gln118His) c.438G>C (p.Gln146His) c.453G>C (p.Gln151His) n.2887G>C n.854G>C c.*320G>C (n.*320G>C) c.-142G>C (n.-142G>C) c.414G>C (p.Gln138His) | |
| 11 | g.1758981C>T | CA471987266 | CTSD | c.459G>A (p.Gln153=) c.354G>A (p.Gln118=) c.438G>A (p.Gln146=) c.453G>A (p.Gln151=) n.2887G>A n.854G>A c.*320G>A (n.*320G>A) c.-142G>A (n.-142G>A) c.414G>A (p.Gln138=) | dbSNP gnomAD v4 |
| 11 | g.1758982T>A | CA379097216 | CTSD | c.458A>T (p.Gln153Leu) c.353A>T (p.Gln118Leu) c.437A>T (p.Gln146Leu) c.452A>T (p.Gln151Leu) n.2886A>T n.853A>T c.*319A>T (n.*319A>T) c.-143A>T (n.-143A>T) c.413A>T (p.Gln138Leu) | |
| 11 | g.1758982T>C | CA379097218 | CTSD | c.458A>G (p.Gln153Arg) c.353A>G (p.Gln118Arg) c.437A>G (p.Gln146Arg) c.452A>G (p.Gln151Arg) n.2886A>G n.853A>G c.*319A>G (n.*319A>G) c.-143A>G (n.-143A>G) c.413A>G (p.Gln138Arg) | |
| 11 | g.1758982T>G | CA379097220 | CTSD | c.458A>C (p.Gln153Pro) c.353A>C (p.Gln118Pro) c.437A>C (p.Gln146Pro) c.452A>C (p.Gln151Pro) n.2886A>C n.853A>C c.*319A>C (n.*319A>C) c.-143A>C (n.-143A>C) c.413A>C (p.Gln138Pro) | |
| 11 | g.1758983G>A | CA379097223 | CTSD | c.457C>T (p.Gln153Ter) c.352C>T (p.Gln118Ter) c.436C>T (p.Gln146Ter) c.451C>T (p.Gln151Ter) n.2885C>T n.852C>T c.*318C>T (n.*318C>T) c.-144C>T (n.-144C>T) c.412C>T (p.Gln138Ter) | ClinVar |