UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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 |
| 11 | g.1758983G>C | CA379097225 | CTSD | c.457C>G (p.Gln153Glu) c.352C>G (p.Gln118Glu) c.436C>G (p.Gln146Glu) c.451C>G (p.Gln151Glu) n.2885C>G n.852C>G c.*318C>G (n.*318C>G) c.-144C>G (n.-144C>G) c.412C>G (p.Gln138Glu) | |
| 11 | g.1758983G= | CA1947828426 | CTSD | c.457C= (p.Gln153=) c.352C= (p.Gln118=) c.436C= (p.Gln146=) c.451C= (p.Gln151=) n.2885C= n.852C= c.*318C= (n.*318C=) c.-144C= (n.-144C=) c.412C= (p.Gln138=) | |
| 11 | g.1758983G>T | CA379097227 | CTSD | c.457C>A (p.Gln153Lys) c.352C>A (p.Gln118Lys) c.436C>A (p.Gln146Lys) c.451C>A (p.Gln151Lys) n.2885C>A n.852C>A c.*318C>A (n.*318C>A) c.-144C>A (n.-144C>A) c.412C>A (p.Gln138Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.1758984G>A | CA471987275 | CTSD | c.456C>T (p.Ser152=) c.351C>T (p.Ser117=) c.435C>T (p.Ser145=) c.450C>T (p.Ser150=) n.2884C>T n.851C>T c.*317C>T (n.*317C>T) c.-145C>T (n.-145C>T) c.411C>T (p.Ser137=) | |
| 11 | g.1758984G>C | CA379097229 | CTSD | c.456C>G (p.Ser152Arg) c.351C>G (p.Ser117Arg) c.435C>G (p.Ser145Arg) c.450C>G (p.Ser150Arg) n.2884C>G n.851C>G c.*317C>G (n.*317C>G) c.-145C>G (n.-145C>G) c.411C>G (p.Ser137Arg) | |
| 11 | g.1758984G>T | CA379097230 | CTSD | c.456C>A (p.Ser152Arg) c.351C>A (p.Ser117Arg) c.435C>A (p.Ser145Arg) c.450C>A (p.Ser150Arg) n.2884C>A n.851C>A c.*317C>A (n.*317C>A) c.-145C>A (n.-145C>A) c.411C>A (p.Ser137Arg) | |
| 11 | g.1758985C>A | CA379097233 | CTSD | c.455G>T (p.Ser152Ile) c.350G>T (p.Ser117Ile) c.434G>T (p.Ser145Ile) c.449G>T (p.Ser150Ile) n.2883G>T n.850G>T c.*316G>T (n.*316G>T) c.-146G>T (n.-146G>T) c.410G>T (p.Ser137Ile) | |
| 11 | g.1758985C= | CA1947828427 | CTSD | c.455G= (p.Ser152=) c.350G= (p.Ser117=) c.434G= (p.Ser145=) c.449G= (p.Ser150=) n.2883G= n.850G= c.*316G= (n.*316G=) c.-146G= (n.-146G=) c.410G= (p.Ser137=) | |
| 11 | g.1758985C>G | CA379097234 | CTSD | c.455G>C (p.Ser152Thr) c.350G>C (p.Ser117Thr) c.434G>C (p.Ser145Thr) c.449G>C (p.Ser150Thr) n.2883G>C n.850G>C c.*316G>C (n.*316G>C) c.-146G>C (n.-146G>C) c.410G>C (p.Ser137Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.1758985C>T | CA379097236 | CTSD | c.455G>A (p.Ser152Asn) c.350G>A (p.Ser117Asn) c.434G>A (p.Ser145Asn) c.449G>A (p.Ser150Asn) n.2883G>A n.850G>A c.*316G>A (n.*316G>A) c.-146G>A (n.-146G>A) c.410G>A (p.Ser137Asn) | dbSNP |
| 11 | g.1758986T>A | CA379097239 | CTSD | c.454A>T (p.Ser152Cys) c.349A>T (p.Ser117Cys) c.433A>T (p.Ser145Cys) c.448A>T (p.Ser150Cys) n.2882A>T n.849A>T c.*315A>T (n.*315A>T) c.-147A>T (n.-147A>T) c.409A>T (p.Ser137Cys) | |
| 11 | g.1758986T>C | CA379097241 | CTSD | c.454A>G (p.Ser152Gly) c.349A>G (p.Ser117Gly) c.433A>G (p.Ser145Gly) c.448A>G (p.Ser150Gly) n.2882A>G n.849A>G c.*315A>G (n.*315A>G) c.-147A>G (n.-147A>G) c.409A>G (p.Ser137Gly) | |
| 11 | g.1758986T>G | CA379097244 | CTSD | c.454A>C (p.Ser152Arg) c.349A>C (p.Ser117Arg) c.433A>C (p.Ser145Arg) c.448A>C (p.Ser150Arg) n.2882A>C n.849A>C c.*315A>C (n.*315A>C) c.-147A>C (n.-147A>C) c.409A>C (p.Ser137Arg) | |
| 11 | g.1758987C>A | CA471987289 | CTSD | c.453G>T (p.Leu151=) c.348G>T (p.Leu116=) c.432G>T (p.Leu144=) c.447G>T (p.Leu149=) n.2881G>T n.848G>T c.*314G>T (n.*314G>T) c.-148G>T (n.-148G>T) c.408G>T (p.Leu136=) | |
| 11 | g.1758987C>G | CA471987290 | CTSD | c.453G>C (p.Leu151=) c.348G>C (p.Leu116=) c.432G>C (p.Leu144=) c.447G>C (p.Leu149=) n.2881G>C n.848G>C c.*314G>C (n.*314G>C) c.-148G>C (n.-148G>C) c.408G>C (p.Leu136=) | gnomAD v4 |
| 11 | g.1758987C>T | CA471987292 | CTSD | c.453G>A (p.Leu151=) c.348G>A (p.Leu116=) c.432G>A (p.Leu144=) c.447G>A (p.Leu149=) n.2881G>A n.848G>A c.*314G>A (n.*314G>A) c.-148G>A (n.-148G>A) c.408G>A (p.Leu136=) | |
| 11 | g.1758988A>C | CA379097247 | CTSD | c.452T>G (p.Leu151Arg) c.347T>G (p.Leu116Arg) c.431T>G (p.Leu144Arg) c.446T>G (p.Leu149Arg) n.2880T>G n.847T>G c.*313T>G (n.*313T>G) c.-149T>G (n.-149T>G) c.407T>G (p.Leu136Arg) | |
| 11 | g.1758988A>G | CA379097248 | CTSD | c.452T>C (p.Leu151Pro) c.347T>C (p.Leu116Pro) c.431T>C (p.Leu144Pro) c.446T>C (p.Leu149Pro) n.2880T>C n.847T>C c.*313T>C (n.*313T>C) c.-149T>C (n.-149T>C) c.407T>C (p.Leu136Pro) | |
| 11 | g.1758988A>T | CA379097250 | CTSD | c.452T>A (p.Leu151Gln) c.347T>A (p.Leu116Gln) c.431T>A (p.Leu144Gln) c.446T>A (p.Leu149Gln) n.2880T>A n.847T>A c.*313T>A (n.*313T>A) c.-149T>A (n.-149T>A) c.407T>A (p.Leu136Gln) | |
| 11 | g.1758989G>A | CA471987300 | CTSD | c.451C>T (p.Leu151=) c.346C>T (p.Leu116=) c.430C>T (p.Leu144=) c.445C>T (p.Leu149=) n.2879C>T n.846C>T c.*312C>T (n.*312C>T) c.-150C>T (n.-150C>T) c.406C>T (p.Leu136=) | |
| 11 | g.1758989G>C | CA379097252 | CTSD | c.451C>G (p.Leu151Val) c.346C>G (p.Leu116Val) c.430C>G (p.Leu144Val) c.445C>G (p.Leu149Val) n.2879C>G n.846C>G c.*312C>G (n.*312C>G) c.-150C>G (n.-150C>G) c.406C>G (p.Leu136Val) | |
| 11 | g.1758989G>T | CA379097254 | CTSD | c.451C>A (p.Leu151Met) c.346C>A (p.Leu116Met) c.430C>A (p.Leu144Met) c.445C>A (p.Leu149Met) n.2879C>A n.846C>A c.*312C>A (n.*312C>A) c.-150C>A (n.-150C>A) c.406C>A (p.Leu136Met) | |
| 11 | g.1758990G>A | CA471987305 | CTSD | c.450C>T (p.Tyr150=) c.345C>T (p.Tyr115=) c.429C>T (p.Tyr143=) c.444C>T (p.Tyr148=) n.2878C>T n.845C>T c.*311C>T (n.*311C>T) c.-151C>T (n.-151C>T) c.405C>T (p.Tyr135=) | |
| 11 | g.1758990G>C | CA379097257 | CTSD | c.450C>G (p.Tyr150Ter) c.345C>G (p.Tyr115Ter) c.429C>G (p.Tyr143Ter) c.444C>G (p.Tyr148Ter) n.2878C>G n.845C>G c.*311C>G (n.*311C>G) c.-151C>G (n.-151C>G) c.405C>G (p.Tyr135Ter) | |
| 11 | g.1758990G>T | CA379097259 | CTSD | c.450C>A (p.Tyr150Ter) c.345C>A (p.Tyr115Ter) c.429C>A (p.Tyr143Ter) c.444C>A (p.Tyr148Ter) n.2878C>A n.845C>A c.*311C>A (n.*311C>A) c.-151C>A (n.-151C>A) c.405C>A (p.Tyr135Ter) | |
| 11 | g.1758991T>A | CA379097269 | CTSD | c.449A>T (p.Tyr150Phe) c.344A>T (p.Tyr115Phe) c.428A>T (p.Tyr143Phe) c.443A>T (p.Tyr148Phe) n.2877A>T n.844A>T c.*310A>T (n.*310A>T) c.-152A>T (n.-152A>T) c.404A>T (p.Tyr135Phe) | |
| 11 | g.1758991T>C | CA379097262 | CTSD | c.449A>G (p.Tyr150Cys) c.344A>G (p.Tyr115Cys) c.428A>G (p.Tyr143Cys) c.443A>G (p.Tyr148Cys) n.2877A>G n.844A>G c.*310A>G (n.*310A>G) c.-152A>G (n.-152A>G) c.404A>G (p.Tyr135Cys) | |
| 11 | g.1758991T>G | CA379097264 | CTSD | c.449A>C (p.Tyr150Ser) c.344A>C (p.Tyr115Ser) c.428A>C (p.Tyr143Ser) c.443A>C (p.Tyr148Ser) n.2877A>C n.844A>C c.*310A>C (n.*310A>C) c.-152A>C (n.-152A>C) c.404A>C (p.Tyr135Ser) | |
| 11 | g.1758992A= | CA1947828428 | CTSD | c.448T= (p.Tyr150=) c.343T= (p.Tyr115=) c.427T= (p.Tyr143=) c.442T= (p.Tyr148=) n.2876T= n.843T= c.*309T= (n.*309T=) c.-153T= (n.-153T=) c.403T= (p.Tyr135=) | |
| 11 | g.1758992A>C | CA379097271 | CTSD | c.448T>G (p.Tyr150Asp) c.343T>G (p.Tyr115Asp) c.427T>G (p.Tyr143Asp) c.442T>G (p.Tyr148Asp) n.2876T>G n.843T>G c.*309T>G (n.*309T>G) c.-153T>G (n.-153T>G) c.403T>G (p.Tyr135Asp) | dbSNP |
| 11 | g.1758992A>G | CA379097280 | CTSD | c.448T>C (p.Tyr150His) c.343T>C (p.Tyr115His) c.427T>C (p.Tyr143His) c.442T>C (p.Tyr148His) n.2876T>C n.843T>C c.*309T>C (n.*309T>C) c.-153T>C (n.-153T>C) c.403T>C (p.Tyr135His) | dbSNP gnomAD v2 |
| 11 | g.1758992A>T | CA379097282 | CTSD | c.448T>A (p.Tyr150Asn) c.343T>A (p.Tyr115Asn) c.427T>A (p.Tyr143Asn) c.442T>A (p.Tyr148Asn) n.2876T>A n.843T>A c.*309T>A (n.*309T>A) c.-153T>A (n.-153T>A) c.403T>A (p.Tyr135Asn) | |
| 11 | g.1758993C>A | CA471987323 | CTSD | c.447G>T (p.Gly149=) c.342G>T (p.Gly114=) c.426G>T (p.Gly142=) c.441G>T (p.Gly147=) n.2875G>T n.842G>T c.*308G>T (n.*308G>T) c.-154G>T (n.-154G>T) c.402G>T (p.Gly134=) | |
| 11 | g.1758993C= | CA1947828429 | CTSD | c.447G= (p.Gly149=) c.342G= (p.Gly114=) c.426G= (p.Gly142=) c.441G= (p.Gly147=) n.2875G= n.842G= c.*308G= (n.*308G=) c.-154G= (n.-154G=) c.402G= (p.Gly134=) | |
| 11 | g.1758993C>G | CA471987319 | CTSD | c.447G>C (p.Gly149=) c.342G>C (p.Gly114=) c.426G>C (p.Gly142=) c.441G>C (p.Gly147=) n.2875G>C n.842G>C c.*308G>C (n.*308G>C) c.-154G>C (n.-154G>C) c.402G>C (p.Gly134=) | |
| 11 | g.1758993C>T | CA5814174 | CTSD | c.447G>A (p.Gly149=) c.342G>A (p.Gly114=) c.426G>A (p.Gly142=) c.441G>A (p.Gly147=) n.2875G>A n.842G>A c.*308G>A (n.*308G>A) c.-154G>A (n.-154G>A) c.402G>A (p.Gly134=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1758994C>A | CA276036 | CTSD | c.446G>T (p.Gly149Val) c.341G>T (p.Gly114Val) c.425G>T (p.Gly142Val) c.440G>T (p.Gly147Val) n.2874G>T n.841G>T c.*307G>T (n.*307G>T) c.-155G>T (n.-155G>T) c.401G>T (p.Gly134Val) | ClinVar dbSNP |
| 11 | g.1758994C= | CA1947828430 | CTSD | c.446G= (p.Gly149=) c.341G= (p.Gly114=) c.425G= (p.Gly142=) c.440G= (p.Gly147=) n.2874G= n.841G= c.*307G= (n.*307G=) c.-155G= (n.-155G=) c.401G= (p.Gly134=) | |
| 11 | g.1758994C>G | CA379097287 | CTSD | c.446G>C (p.Gly149Ala) c.341G>C (p.Gly114Ala) c.425G>C (p.Gly142Ala) c.440G>C (p.Gly147Ala) n.2874G>C n.841G>C c.*307G>C (n.*307G>C) c.-155G>C (n.-155G>C) c.401G>C (p.Gly134Ala) | |
| 11 | g.1758994C>T | CA379097289 | CTSD | c.446G>A (p.Gly149Glu) c.341G>A (p.Gly114Glu) c.425G>A (p.Gly142Glu) c.440G>A (p.Gly147Glu) n.2874G>A n.841G>A c.*307G>A (n.*307G>A) c.-155G>A (n.-155G>A) c.401G>A (p.Gly134Glu) | |
| 11 | g.1758995C>A | CA379097292 | CTSD | c.445G>T (p.Gly149Trp) c.340G>T (p.Gly114Trp) c.424G>T (p.Gly142Trp) c.439G>T (p.Gly147Trp) n.2873G>T n.840G>T c.*306G>T (n.*306G>T) c.-156G>T (n.-156G>T) c.400G>T (p.Gly134Trp) | gnomAD v4 COSMIC |
| 11 | g.1758995C= | CA1947828431 | CTSD | c.445G= (p.Gly149=) c.340G= (p.Gly114=) c.424G= (p.Gly142=) c.439G= (p.Gly147=) n.2873G= n.840G= c.*306G= (n.*306G=) c.-156G= (n.-156G=) c.400G= (p.Gly134=) | |
| 11 | g.1758995C>G | CA379097293 | CTSD | c.445G>C (p.Gly149Arg) c.340G>C (p.Gly114Arg) c.424G>C (p.Gly142Arg) c.439G>C (p.Gly147Arg) n.2873G>C n.840G>C c.*306G>C (n.*306G>C) c.-156G>C (n.-156G>C) c.400G>C (p.Gly134Arg) | |
| 11 | g.1758995C>T | CA5814175 | CTSD | c.445G>A (p.Gly149Arg) c.340G>A (p.Gly114Arg) c.424G>A (p.Gly142Arg) c.439G>A (p.Gly147Arg) n.2873G>A n.840G>A c.*306G>A (n.*306G>A) c.-156G>A (n.-156G>A) c.400G>A (p.Gly134Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.1758996G>A | CA5814176 | CTSD | c.444C>T (p.Ser148=) c.339C>T (p.Ser113=) c.423C>T (p.Ser141=) c.438C>T (p.Ser146=) n.2872C>T n.839C>T c.*305C>T (n.*305C>T) c.-157C>T (n.-157C>T) c.399C>T (p.Ser133=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1758996G>C | CA471987348 | CTSD | c.444C>G (p.Ser148=) c.339C>G (p.Ser113=) c.423C>G (p.Ser141=) c.438C>G (p.Ser146=) n.2872C>G n.839C>G c.*305C>G (n.*305C>G) c.-157C>G (n.-157C>G) c.399C>G (p.Ser133=) | |
| 11 | g.1758996G= | CA1947828432 | CTSD | c.444C= (p.Ser148=) c.339C= (p.Ser113=) c.423C= (p.Ser141=) c.438C= (p.Ser146=) n.2872C= n.839C= c.*305C= (n.*305C=) c.-157C= (n.-157C=) c.399C= (p.Ser133=) | |
| 11 | g.1758996G>T | CA471987350 | CTSD | c.444C>A (p.Ser148=) c.339C>A (p.Ser113=) c.423C>A (p.Ser141=) c.438C>A (p.Ser146=) n.2872C>A n.839C>A c.*305C>A (n.*305C>A) c.-157C>A (n.-157C>A) c.399C>A (p.Ser133=) | |
| 11 | g.1758996_1758997del | CA2574736256 | CTSD | c.443_444del (p.Ser148TrpfsTer?) c.338_339del (p.Ser113TrpfsTer?) c.422_423del (p.Ser141TrpfsTer?) c.437_438del (p.Ser146TrpfsTer?) n.2871_2872del n.838_839del c.*304_*305del (n.*304_*305del) c.-158_-157del (n.-158_-157del) c.398_399del (p.Ser133TrpfsTer?) | |
| 11 | g.1758997G>A | CA314346 | CTSD | c.443C>T (p.Ser148Phe) c.338C>T (p.Ser113Phe) c.422C>T (p.Ser141Phe) c.437C>T (p.Ser146Phe) n.2871C>T n.838C>T c.*304C>T (n.*304C>T) c.-158C>T (n.-158C>T) c.398C>T (p.Ser133Phe) | ClinVar dbSNP COSMIC |
| 11 | g.1758997G>C | CA379097301 | CTSD | c.443C>G (p.Ser148Cys) c.338C>G (p.Ser113Cys) c.422C>G (p.Ser141Cys) c.437C>G (p.Ser146Cys) n.2871C>G n.838C>G c.*304C>G (n.*304C>G) c.-158C>G (n.-158C>G) c.398C>G (p.Ser133Cys) | |
| 11 | g.1758997G= | CA1947828433 | CTSD | c.443C= (p.Ser148=) c.338C= (p.Ser113=) c.422C= (p.Ser141=) c.437C= (p.Ser146=) n.2871C= n.838C= c.*304C= (n.*304C=) c.-158C= (n.-158C=) c.398C= (p.Ser133=) | |
| 11 | g.1758997G>T | CA379097300 | CTSD | c.443C>A (p.Ser148Tyr) c.338C>A (p.Ser113Tyr) c.422C>A (p.Ser141Tyr) c.437C>A (p.Ser146Tyr) n.2871C>A n.838C>A c.*304C>A (n.*304C>A) c.-158C>A (n.-158C>A) c.398C>A (p.Ser133Tyr) | gnomAD v4 |
| 11 | g.1758998A>C | CA379097304 | CTSD | c.442T>G (p.Ser148Ala) c.337T>G (p.Ser113Ala) c.421T>G (p.Ser141Ala) c.436T>G (p.Ser146Ala) n.2870T>G n.837T>G c.*303T>G (n.*303T>G) c.-159T>G (n.-159T>G) c.397T>G (p.Ser133Ala) | |
| 11 | g.1758998A>G | CA379097308 | CTSD | c.442T>C (p.Ser148Pro) c.337T>C (p.Ser113Pro) c.421T>C (p.Ser141Pro) c.436T>C (p.Ser146Pro) n.2870T>C n.837T>C c.*303T>C (n.*303T>C) c.-159T>C (n.-159T>C) c.397T>C (p.Ser133Pro) | |
| 11 | g.1758998A>T | CA379097306 | CTSD | c.442T>A (p.Ser148Thr) c.337T>A (p.Ser113Thr) c.421T>A (p.Ser141Thr) c.436T>A (p.Ser146Thr) n.2870T>A n.837T>A c.*303T>A (n.*303T>A) c.-159T>A (n.-159T>A) c.397T>A (p.Ser133Thr) | |
| 11 | g.1758999G>A | CA471987359 | CTSD | c.441C>T (p.Leu147=) c.336C>T (p.Leu112=) c.420C>T (p.Leu140=) c.435C>T (p.Leu145=) n.2869C>T n.836C>T c.*302C>T (n.*302C>T) c.-160C>T (n.-160C>T) c.396C>T (p.Leu132=) | |
| 11 | g.1758999G>C | CA471987361 | CTSD | c.441C>G (p.Leu147=) c.336C>G (p.Leu112=) c.420C>G (p.Leu140=) c.435C>G (p.Leu145=) n.2869C>G n.836C>G c.*302C>G (n.*302C>G) c.-160C>G (n.-160C>G) c.396C>G (p.Leu132=) | gnomAD v4 |
| 11 | g.1758999G>T | CA471987368 | CTSD | c.441C>A (p.Leu147=) c.336C>A (p.Leu112=) c.420C>A (p.Leu140=) c.435C>A (p.Leu145=) n.2869C>A n.836C>A c.*302C>A (n.*302C>A) c.-160C>A (n.-160C>A) c.396C>A (p.Leu132=) | |
| 11 | g.1759000A>C | CA379097311 | CTSD | c.440T>G (p.Leu147Arg) c.335T>G (p.Leu112Arg) c.419T>G (p.Leu140Arg) c.434T>G (p.Leu145Arg) n.2868T>G n.835T>G c.*301T>G (n.*301T>G) c.-161T>G (n.-161T>G) c.395T>G (p.Leu132Arg) | |
| 11 | g.1759000A>G | CA379097313 | CTSD | c.440T>C (p.Leu147Pro) c.335T>C (p.Leu112Pro) c.419T>C (p.Leu140Pro) c.434T>C (p.Leu145Pro) n.2868T>C n.835T>C c.*301T>C (n.*301T>C) c.-161T>C (n.-161T>C) c.395T>C (p.Leu132Pro) | |
| 11 | g.1759000A>T | CA379097315 | CTSD | c.440T>A (p.Leu147His) c.335T>A (p.Leu112His) c.419T>A (p.Leu140His) c.434T>A (p.Leu145His) n.2868T>A n.835T>A c.*301T>A (n.*301T>A) c.-161T>A (n.-161T>A) c.395T>A (p.Leu132His) | |
| 11 | g.1759001G>A | CA379097318 | CTSD | c.439C>T (p.Leu147Phe) c.334C>T (p.Leu112Phe) c.418C>T (p.Leu140Phe) c.433C>T (p.Leu145Phe) n.2867C>T n.834C>T c.*300C>T (n.*300C>T) c.-162C>T (n.-162C>T) c.394C>T (p.Leu132Phe) | |
| 11 | g.1759001G>C | CA379097321 | CTSD | c.439C>G (p.Leu147Val) c.334C>G (p.Leu112Val) c.418C>G (p.Leu140Val) c.433C>G (p.Leu145Val) n.2867C>G n.834C>G c.*300C>G (n.*300C>G) c.-162C>G (n.-162C>G) c.394C>G (p.Leu132Val) | |
| 11 | g.1759001G>T | CA379097322 | CTSD | c.439C>A (p.Leu147Ile) c.334C>A (p.Leu112Ile) c.418C>A (p.Leu140Ile) c.433C>A (p.Leu145Ile) n.2867C>A n.834C>A c.*300C>A (n.*300C>A) c.-162C>A (n.-162C>A) c.394C>A (p.Leu132Ile) | |
| 11 | g.1759002G>A | CA471987380 | CTSD | c.438C>T (p.Ser146=) c.333C>T (p.Ser111=) c.417C>T (p.Ser139=) c.432C>T (p.Ser144=) n.2866C>T n.833C>T c.*299C>T (n.*299C>T) c.-163C>T (n.-163C>T) c.393C>T (p.Ser131=) | |
| 11 | g.1759002G>C | CA379097323 | CTSD | c.438C>G (p.Ser146Arg) c.333C>G (p.Ser111Arg) c.417C>G (p.Ser139Arg) c.432C>G (p.Ser144Arg) n.2866C>G n.833C>G c.*299C>G (n.*299C>G) c.-163C>G (n.-163C>G) c.393C>G (p.Ser131Arg) | |
| 11 | g.1759002G>T | CA379097325 | CTSD | c.438C>A (p.Ser146Arg) c.333C>A (p.Ser111Arg) c.417C>A (p.Ser139Arg) c.432C>A (p.Ser144Arg) n.2866C>A n.833C>A c.*299C>A (n.*299C>A) c.-163C>A (n.-163C>A) c.393C>A (p.Ser131Arg) | |
| 11 | g.1759003C>A | CA216174902 | CTSD | c.437G>T (p.Ser146Ile) c.332G>T (p.Ser111Ile) c.416G>T (p.Ser139Ile) c.431G>T (p.Ser144Ile) n.2865G>T n.832G>T c.*298G>T (n.*298G>T) c.-164G>T (n.-164G>T) c.392G>T (p.Ser131Ile) | ClinVar dbSNP gnomAD v4 |
| 11 | g.1759003C= | CA1947828434 | CTSD | c.437G= (p.Ser146=) c.332G= (p.Ser111=) c.416G= (p.Ser139=) c.431G= (p.Ser144=) n.2865G= n.832G= c.*298G= (n.*298G=) c.-164G= (n.-164G=) c.392G= (p.Ser131=) | |
| 11 | g.1759003C>G | CA379097329 | CTSD | c.437G>C (p.Ser146Thr) c.332G>C (p.Ser111Thr) c.416G>C (p.Ser139Thr) c.431G>C (p.Ser144Thr) n.2865G>C n.832G>C c.*298G>C (n.*298G>C) c.-164G>C (n.-164G>C) c.392G>C (p.Ser131Thr) | |
| 11 | g.1759003C>T | CA379097331 | CTSD | c.437G>A (p.Ser146Asn) c.332G>A (p.Ser111Asn) c.416G>A (p.Ser139Asn) c.431G>A (p.Ser144Asn) n.2865G>A n.832G>A c.*298G>A (n.*298G>A) c.-164G>A (n.-164G>A) c.392G>A (p.Ser131Asn) | dbSNP |
| 11 | g.1759004T>A | CA379097336 | CTSD | c.436A>T (p.Ser146Cys) c.331A>T (p.Ser111Cys) c.415A>T (p.Ser139Cys) c.430A>T (p.Ser144Cys) n.2864A>T n.831A>T c.*297A>T (n.*297A>T) c.-165A>T (n.-165A>T) c.391A>T (p.Ser131Cys) | |
| 11 | g.1759004T>C | CA379097333 | CTSD | c.436A>G (p.Ser146Gly) c.331A>G (p.Ser111Gly) c.415A>G (p.Ser139Gly) c.430A>G (p.Ser144Gly) n.2864A>G n.831A>G c.*297A>G (n.*297A>G) c.-165A>G (n.-165A>G) c.391A>G (p.Ser131Gly) | |
| 11 | g.1759004T>G | CA379097335 | CTSD | c.436A>C (p.Ser146Arg) c.331A>C (p.Ser111Arg) c.415A>C (p.Ser139Arg) c.430A>C (p.Ser144Arg) n.2864A>C n.831A>C c.*297A>C (n.*297A>C) c.-165A>C (n.-165A>C) c.391A>C (p.Ser131Arg) | |
| 11 | g.1759005G>A | CA471987389 | CTSD | c.435C>T (p.Gly145=) c.330C>T (p.Gly110=) c.414C>T (p.Gly138=) c.429C>T (p.Gly143=) n.2863C>T n.830C>T c.*296C>T (n.*296C>T) c.-166C>T (n.-166C>T) c.390C>T (p.Gly130=) | |
| 11 | g.1759005G>C | CA471987391 | CTSD | c.435C>G (p.Gly145=) c.330C>G (p.Gly110=) c.414C>G (p.Gly138=) c.429C>G (p.Gly143=) n.2863C>G n.830C>G c.*296C>G (n.*296C>G) c.-166C>G (n.-166C>G) c.390C>G (p.Gly130=) | |
| 11 | g.1759005G>T | CA471987393 | CTSD | c.435C>A (p.Gly145=) c.330C>A (p.Gly110=) c.414C>A (p.Gly138=) c.429C>A (p.Gly143=) n.2863C>A n.830C>A c.*296C>A (n.*296C>A) c.-166C>A (n.-166C>A) c.390C>A (p.Gly130=) | COSMIC |
| 11 | g.1759006C>A | CA379097337 | CTSD | c.434G>T (p.Gly145Val) c.329G>T (p.Gly110Val) c.413G>T (p.Gly138Val) c.428G>T (p.Gly143Val) n.2862G>T n.829G>T c.*295G>T (n.*295G>T) c.-167G>T (n.-167G>T) c.389G>T (p.Gly130Val) | |
| 11 | g.1759006C= | CA1947828435 | CTSD | c.434G= (p.Gly145=) c.329G= (p.Gly110=) c.413G= (p.Gly138=) c.428G= (p.Gly143=) n.2862G= n.829G= c.*295G= (n.*295G=) c.-167G= (n.-167G=) c.389G= (p.Gly130=) | |
| 11 | g.1759006C>G | CA5814177 | CTSD | c.434G>C (p.Gly145Ala) c.329G>C (p.Gly110Ala) c.413G>C (p.Gly138Ala) c.428G>C (p.Gly143Ala) n.2862G>C n.829G>C c.*295G>C (n.*295G>C) c.-167G>C (n.-167G>C) c.389G>C (p.Gly130Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.1759006C>T | CA379097339 | CTSD | c.434G>A (p.Gly145Asp) c.329G>A (p.Gly110Asp) c.413G>A (p.Gly138Asp) c.428G>A (p.Gly143Asp) n.2862G>A n.829G>A c.*295G>A (n.*295G>A) c.-167G>A (n.-167G>A) c.389G>A (p.Gly130Asp) | |
| 11 | g.1759007C>A | CA379097342 | CTSD | c.433G>T (p.Gly145Cys) c.328G>T (p.Gly110Cys) c.412G>T (p.Gly138Cys) c.427G>T (p.Gly143Cys) n.2861G>T n.828G>T c.*294G>T (n.*294G>T) c.-168G>T (n.-168G>T) c.388G>T (p.Gly130Cys) | |
| 11 | g.1759007C= | CA1947828436 | CTSD | c.433G= (p.Gly145=) c.328G= (p.Gly110=) c.412G= (p.Gly138=) c.427G= (p.Gly143=) n.2861G= n.828G= c.*294G= (n.*294G=) c.-168G= (n.-168G=) c.388G= (p.Gly130=) | |
| 11 | g.1759007C>G | CA379097344 | CTSD | c.433G>C (p.Gly145Arg) c.328G>C (p.Gly110Arg) c.412G>C (p.Gly138Arg) c.427G>C (p.Gly143Arg) n.2861G>C n.828G>C c.*294G>C (n.*294G>C) c.-168G>C (n.-168G>C) c.388G>C (p.Gly130Arg) | |
| 11 | g.1759007C>T | CA379097349 | CTSD | c.433G>A (p.Gly145Ser) c.328G>A (p.Gly110Ser) c.412G>A (p.Gly138Ser) c.427G>A (p.Gly143Ser) n.2861G>A n.828G>A c.*294G>A (n.*294G>A) c.-168G>A (n.-168G>A) c.388G>A (p.Gly130Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.1759008C>A | CA471987402 | CTSD | c.432G>T (p.Ser144=) c.327G>T (p.Ser109=) c.411G>T (p.Ser137=) c.426G>T (p.Ser142=) n.2860G>T n.827G>T c.*293G>T (n.*293G>T) c.-169G>T (n.-169G>T) c.387G>T (p.Ser129=) | |
| 11 | g.1759008C= | CA1947828437 | CTSD | c.432G= (p.Ser144=) c.327G= (p.Ser109=) c.411G= (p.Ser137=) c.426G= (p.Ser142=) n.2860G= n.827G= c.*293G= (n.*293G=) c.-169G= (n.-169G=) c.387G= (p.Ser129=) | |
| 11 | g.1759008C>G | CA5814178 | CTSD | c.432G>C (p.Ser144=) c.327G>C (p.Ser109=) c.411G>C (p.Ser137=) c.426G>C (p.Ser142=) n.2860G>C n.827G>C c.*293G>C (n.*293G>C) c.-169G>C (n.-169G>C) c.387G>C (p.Ser129=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.1759008C>T | CA290551 | CTSD | c.432G>A (p.Ser144=) c.327G>A (p.Ser109=) c.411G>A (p.Ser137=) c.426G>A (p.Ser142=) n.2860G>A n.827G>A c.*293G>A (n.*293G>A) c.-169G>A (n.-169G>A) c.387G>A (p.Ser129=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.1759009G>A | CA5814179 | CTSD | c.431C>T (p.Ser144Leu) c.326C>T (p.Ser109Leu) c.410C>T (p.Ser137Leu) c.425C>T (p.Ser142Leu) n.2859C>T n.826C>T c.*292C>T (n.*292C>T) c.-170C>T (n.-170C>T) c.386C>T (p.Ser129Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.1759009G>C | CA379097355 | CTSD | c.431C>G (p.Ser144Trp) c.326C>G (p.Ser109Trp) c.410C>G (p.Ser137Trp) c.425C>G (p.Ser142Trp) n.2859C>G n.826C>G c.*292C>G (n.*292C>G) c.-170C>G (n.-170C>G) c.386C>G (p.Ser129Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.1759009G= | CA1947828438 | CTSD | c.431C= (p.Ser144=) c.326C= (p.Ser109=) c.410C= (p.Ser137=) c.425C= (p.Ser142=) n.2859C= n.826C= c.*292C= (n.*292C=) c.-170C= (n.-170C=) c.386C= (p.Ser129=) | |
| 11 | g.1759009G>T | CA379097357 | CTSD | c.431C>A (p.Ser144Ter) c.326C>A (p.Ser109Ter) c.410C>A (p.Ser137Ter) c.425C>A (p.Ser142Ter) n.2859C>A n.826C>A c.*292C>A (n.*292C>A) c.-170C>A (n.-170C>A) c.386C>A (p.Ser129Ter) | |
| 11 | g.1759010A= | CA1947828439 | CTSD | c.430T= (p.Ser144=) c.325T= (p.Ser109=) c.409T= (p.Ser137=) c.424T= (p.Ser142=) n.2858T= n.825T= c.*291T= (n.*291T=) c.-171T= (n.-171T=) c.385T= (p.Ser129=) | |
| 11 | g.1759010A>C | CA379097361 | CTSD | c.430T>G (p.Ser144Ala) c.325T>G (p.Ser109Ala) c.409T>G (p.Ser137Ala) c.424T>G (p.Ser142Ala) n.2858T>G n.825T>G c.*291T>G (n.*291T>G) c.-171T>G (n.-171T>G) c.385T>G (p.Ser129Ala) | |
| 11 | g.1759010A>G | CA379097364 | CTSD | c.430T>C (p.Ser144Pro) c.325T>C (p.Ser109Pro) c.409T>C (p.Ser137Pro) c.424T>C (p.Ser142Pro) n.2858T>C n.825T>C c.*291T>C (n.*291T>C) c.-171T>C (n.-171T>C) c.385T>C (p.Ser129Pro) | dbSNP gnomAD v4 |
| 11 | g.1759010A>T | CA379097360 | CTSD | c.430T>A (p.Ser144Thr) c.325T>A (p.Ser109Thr) c.409T>A (p.Ser137Thr) c.424T>A (p.Ser142Thr) n.2858T>A n.825T>A c.*291T>A (n.*291T>A) c.-171T>A (n.-171T>A) c.385T>A (p.Ser129Thr) | |
| 11 | g.1759011G>A | CA471987414 | CTSD | c.429C>T (p.Gly143=) c.324C>T (p.Gly108=) c.408C>T (p.Gly136=) c.423C>T (p.Gly141=) n.2857C>T n.824C>T c.*290C>T (n.*290C>T) c.-172C>T (n.-172C>T) c.384C>T (p.Gly128=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.1759011G>C | CA5814180 | CTSD | c.429C>G (p.Gly143=) c.324C>G (p.Gly108=) c.408C>G (p.Gly136=) c.423C>G (p.Gly141=) n.2857C>G n.824C>G c.*290C>G (n.*290C>G) c.-172C>G (n.-172C>G) c.384C>G (p.Gly128=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.1759011G= | CA1947828440 | CTSD | c.429C= (p.Gly143=) c.324C= (p.Gly108=) c.408C= (p.Gly136=) c.423C= (p.Gly141=) n.2857C= n.824C= c.*290C= (n.*290C=) c.-172C= (n.-172C=) c.384C= (p.Gly128=) | |
| 11 | g.1759011G>T | CA471987417 | CTSD | c.429C>A (p.Gly143=) c.324C>A (p.Gly108=) c.408C>A (p.Gly136=) c.423C>A (p.Gly141=) n.2857C>A n.824C>A c.*290C>A (n.*290C>A) c.-172C>A (n.-172C>A) c.384C>A (p.Gly128=) | |
| 11 | g.1759012C>A | CA379097366 | CTSD | c.428G>T (p.Gly143Val) c.323G>T (p.Gly108Val) c.407G>T (p.Gly136Val) c.422G>T (p.Gly141Val) n.2856G>T n.823G>T c.*289G>T (n.*289G>T) c.-173G>T (n.-173G>T) c.383G>T (p.Gly128Val) | gnomAD v4 |
| 11 | g.1759012C>G | CA379097367 | CTSD | c.428G>C (p.Gly143Ala) c.323G>C (p.Gly108Ala) c.407G>C (p.Gly136Ala) c.422G>C (p.Gly141Ala) n.2856G>C n.823G>C c.*289G>C (n.*289G>C) c.-173G>C (n.-173G>C) c.383G>C (p.Gly128Ala) | |
| 11 | g.1759012C>T | CA379097369 | CTSD | c.428G>A (p.Gly143Asp) c.323G>A (p.Gly108Asp) c.407G>A (p.Gly136Asp) c.422G>A (p.Gly141Asp) n.2856G>A n.823G>A c.*289G>A (n.*289G>A) c.-173G>A (n.-173G>A) c.383G>A (p.Gly128Asp) | |
| 11 | g.1759013C>A | CA379097372 | CTSD | c.427G>T (p.Gly143Cys) c.322G>T (p.Gly108Cys) c.406G>T (p.Gly136Cys) c.421G>T (p.Gly141Cys) n.2855G>T n.822G>T c.*288G>T (n.*288G>T) c.-174G>T (n.-174G>T) c.382G>T (p.Gly128Cys) | |
| 11 | g.1759013C>G | CA379097374 | CTSD | c.427G>C (p.Gly143Arg) c.322G>C (p.Gly108Arg) c.406G>C (p.Gly136Arg) c.421G>C (p.Gly141Arg) n.2855G>C n.822G>C c.*288G>C (n.*288G>C) c.-174G>C (n.-174G>C) c.382G>C (p.Gly128Arg) | |
| 11 | g.1759013C>T | CA379097376 | CTSD | c.427G>A (p.Gly143Ser) c.322G>A (p.Gly108Ser) c.406G>A (p.Gly136Ser) c.421G>A (p.Gly141Ser) n.2855G>A n.822G>A c.*288G>A (n.*288G>A) c.-174G>A (n.-174G>A) c.382G>A (p.Gly128Ser) | |
| 11 | g.1759014A>C | CA379097378 | CTSD | c.426T>G (p.Tyr142Ter) c.321T>G (p.Tyr107Ter) c.405T>G (p.Tyr135Ter) c.420T>G (p.Tyr140Ter) n.2854T>G n.821T>G c.*287T>G (n.*287T>G) c.-175T>G (n.-175T>G) c.381T>G (p.Tyr127Ter) | |
| 11 | g.1759014A>G | CA471987432 | CTSD | c.426T>C (p.Tyr142=) c.321T>C (p.Tyr107=) c.405T>C (p.Tyr135=) c.420T>C (p.Tyr140=) n.2854T>C n.821T>C c.*287T>C (n.*287T>C) c.-175T>C (n.-175T>C) c.381T>C (p.Tyr127=) | gnomAD v4 COSMIC |
| 11 | g.1759014A>T | CA379097380 | CTSD | c.426T>A (p.Tyr142Ter) c.321T>A (p.Tyr107Ter) c.405T>A (p.Tyr135Ter) c.420T>A (p.Tyr140Ter) n.2854T>A n.821T>A c.*287T>A (n.*287T>A) c.-175T>A (n.-175T>A) c.381T>A (p.Tyr127Ter) | |
| 11 | g.1759015T>A | CA379097383 | CTSD | c.425A>T (p.Tyr142Phe) c.320A>T (p.Tyr107Phe) c.404A>T (p.Tyr135Phe) c.419A>T (p.Tyr140Phe) n.2853A>T n.820A>T c.*286A>T (n.*286A>T) c.-176A>T (n.-176A>T) c.380A>T (p.Tyr127Phe) | |
| 11 | g.1759015T>C | CA379097385 | CTSD | c.425A>G (p.Tyr142Cys) c.320A>G (p.Tyr107Cys) c.404A>G (p.Tyr135Cys) c.419A>G (p.Tyr140Cys) n.2853A>G n.820A>G c.*286A>G (n.*286A>G) c.-176A>G (n.-176A>G) c.380A>G (p.Tyr127Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.1759015T>G | CA379097387 | CTSD | c.425A>C (p.Tyr142Ser) c.320A>C (p.Tyr107Ser) c.404A>C (p.Tyr135Ser) c.419A>C (p.Tyr140Ser) n.2853A>C n.820A>C c.*286A>C (n.*286A>C) c.-176A>C (n.-176A>C) c.380A>C (p.Tyr127Ser) | |
| 11 | g.1759015T= | CA1947828441 | CTSD | c.425A= (p.Tyr142=) c.320A= (p.Tyr107=) c.404A= (p.Tyr135=) c.419A= (p.Tyr140=) n.2853A= n.820A= c.*286A= (n.*286A=) c.-176A= (n.-176A=) c.380A= (p.Tyr127=) | |
| 11 | g.1759016A>C | CA379097392 | CTSD | c.424T>G (p.Tyr142Asp) c.319T>G (p.Tyr107Asp) c.403T>G (p.Tyr135Asp) c.418T>G (p.Tyr140Asp) n.2852T>G n.819T>G c.*285T>G (n.*285T>G) c.-177T>G (n.-177T>G) c.379T>G (p.Tyr127Asp) | |
| 11 | g.1759016A>G | CA379097393 | CTSD | c.424T>C (p.Tyr142His) c.319T>C (p.Tyr107His) c.403T>C (p.Tyr135His) c.418T>C (p.Tyr140His) n.2852T>C n.819T>C c.*285T>C (n.*285T>C) c.-177T>C (n.-177T>C) c.379T>C (p.Tyr127His) | gnomAD v4 |
| 11 | g.1759016A>T | CA379097390 | CTSD | c.424T>A (p.Tyr142Asn) c.319T>A (p.Tyr107Asn) c.403T>A (p.Tyr135Asn) c.418T>A (p.Tyr140Asn) n.2852T>A n.819T>A c.*285T>A (n.*285T>A) c.-177T>A (n.-177T>A) c.379T>A (p.Tyr127Asn) | |
| 11 | g.1759017G>A | CA471987439 | CTSD | c.423C>T (p.His141=) c.318C>T (p.His106=) c.402C>T (p.His134=) c.417C>T (p.His139=) n.2851C>T n.818C>T c.*284C>T (n.*284C>T) c.-178C>T (n.-178C>T) c.378C>T (p.His126=) | |
| 11 | g.1759017G>C | CA5814181 | CTSD | c.423C>G (p.His141Gln) c.318C>G (p.His106Gln) c.402C>G (p.His134Gln) c.417C>G (p.His139Gln) n.2851C>G n.818C>G c.*284C>G (n.*284C>G) c.-178C>G (n.-178C>G) c.378C>G (p.His126Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1759017G= | CA1947828442 | CTSD | c.423C= (p.His141=) c.318C= (p.His106=) c.402C= (p.His134=) c.417C= (p.His139=) n.2851C= n.818C= c.*284C= (n.*284C=) c.-178C= (n.-178C=) c.378C= (p.His126=) | |
| 11 | g.1759017G>T | CA379097397 | CTSD | c.423C>A (p.His141Gln) c.318C>A (p.His106Gln) c.402C>A (p.His134Gln) c.417C>A (p.His139Gln) n.2851C>A n.818C>A c.*284C>A (n.*284C>A) c.-178C>A (n.-178C>A) c.378C>A (p.His126Gln) | |
| 11 | g.1759018T>A | CA379097400 | CTSD | c.422A>T (p.His141Leu) c.317A>T (p.His106Leu) c.401A>T (p.His134Leu) c.416A>T (p.His139Leu) n.2850A>T n.817A>T c.*283A>T (n.*283A>T) c.-179A>T (n.-179A>T) c.377A>T (p.His126Leu) | |
| 11 | g.1759018T>C | CA5814182 | CTSD | c.422A>G (p.His141Arg) c.317A>G (p.His106Arg) c.401A>G (p.His134Arg) c.416A>G (p.His139Arg) n.2850A>G n.817A>G c.*283A>G (n.*283A>G) c.-179A>G (n.-179A>G) c.377A>G (p.His126Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1759018T>G | CA379097404 | CTSD | c.422A>C (p.His141Pro) c.317A>C (p.His106Pro) c.401A>C (p.His134Pro) c.416A>C (p.His139Pro) n.2850A>C n.817A>C c.*283A>C (n.*283A>C) c.-179A>C (n.-179A>C) c.377A>C (p.His126Pro) | |
| 11 | g.1759018T= | CA1947834020 | CTSD | c.422A= (p.His141=) c.317A= (p.His106=) c.401A= (p.His134=) c.416A= (p.His139=) n.2850A= n.817A= c.*283A= (n.*283A=) c.-179A= (n.-179A=) c.377A= (p.His126=) | |
| 11 | g.1759019G>A | CA379097414 | CTSD | c.421C>T (p.His141Tyr) c.316C>T (p.His106Tyr) c.400C>T (p.His134Tyr) c.415C>T (p.His139Tyr) n.2849C>T n.816C>T c.*282C>T (n.*282C>T) c.-180C>T (n.-180C>T) c.376C>T (p.His126Tyr) | |
| 11 | g.1759019G>C | CA379097412 | CTSD | c.421C>G (p.His141Asp) c.316C>G (p.His106Asp) c.400C>G (p.His134Asp) c.415C>G (p.His139Asp) n.2849C>G n.816C>G c.*282C>G (n.*282C>G) c.-180C>G (n.-180C>G) c.376C>G (p.His126Asp) | |
| 11 | g.1759019G>T | CA379097409 | CTSD | c.421C>A (p.His141Asn) c.316C>A (p.His106Asn) c.400C>A (p.His134Asn) c.415C>A (p.His139Asn) n.2849C>A n.816C>A c.*282C>A (n.*282C>A) c.-180C>A (n.-180C>A) c.376C>A (p.His126Asn) | |
| 11 | g.1759020G>A | CA471987451 | CTSD | c.420C>T (p.Ile140=) c.315C>T (p.Ile105=) c.399C>T (p.Ile133=) c.414C>T (p.Ile138=) n.2848C>T n.815C>T c.*281C>T (n.*281C>T) c.-181C>T (n.-181C>T) c.375C>T (p.Ile125=) | ClinVar |
| 11 | g.1759020G>C | CA379097416 | CTSD | c.420C>G (p.Ile140Met) c.315C>G (p.Ile105Met) c.399C>G (p.Ile133Met) c.414C>G (p.Ile138Met) n.2848C>G n.815C>G c.*281C>G (n.*281C>G) c.-181C>G (n.-181C>G) c.375C>G (p.Ile125Met) | dbSNP gnomAD v2 |
| 11 | g.1759020G= | CA1947834026 | CTSD | c.420C= (p.Ile140=) c.315C= (p.Ile105=) c.399C= (p.Ile133=) c.414C= (p.Ile138=) n.2848C= n.815C= c.*281C= (n.*281C=) c.-181C= (n.-181C=) c.375C= (p.Ile125=) | |
| 11 | g.1759020G>T | CA471987453 | CTSD | c.420C>A (p.Ile140=) c.315C>A (p.Ile105=) c.399C>A (p.Ile133=) c.414C>A (p.Ile138=) n.2848C>A n.815C>A c.*281C>A (n.*281C>A) c.-181C>A (n.-181C>A) c.375C>A (p.Ile125=) | |
| 11 | g.1759021A>C | CA379097418 | CTSD | c.419T>G (p.Ile140Ser) c.314T>G (p.Ile105Ser) c.398T>G (p.Ile133Ser) c.413T>G (p.Ile138Ser) n.2847T>G n.814T>G c.*280T>G (n.*280T>G) c.-182T>G (n.-182T>G) c.374T>G (p.Ile125Ser) | |
| 11 | g.1759021A>G | CA379097421 | CTSD | c.419T>C (p.Ile140Thr) c.314T>C (p.Ile105Thr) c.398T>C (p.Ile133Thr) c.413T>C (p.Ile138Thr) n.2847T>C n.814T>C c.*280T>C (n.*280T>C) c.-182T>C (n.-182T>C) c.374T>C (p.Ile125Thr) | |
| 11 | g.1759021A>T | CA379097423 | CTSD | c.419T>A (p.Ile140Asn) c.314T>A (p.Ile105Asn) c.398T>A (p.Ile133Asn) c.413T>A (p.Ile138Asn) n.2847T>A n.814T>A c.*280T>A (n.*280T>A) c.-182T>A (n.-182T>A) c.374T>A (p.Ile125Asn) | |
| 11 | g.1759022T>A | CA379097426 | CTSD | c.418A>T (p.Ile140Phe) c.313A>T (p.Ile105Phe) c.397A>T (p.Ile133Phe) c.412A>T (p.Ile138Phe) n.2846A>T n.813A>T c.*279A>T (n.*279A>T) c.-183A>T (n.-183A>T) c.373A>T (p.Ile125Phe) | |
| 11 | g.1759022T>C | CA216174920 | CTSD | c.418A>G (p.Ile140Val) c.313A>G (p.Ile105Val) c.397A>G (p.Ile133Val) c.412A>G (p.Ile138Val) n.2846A>G n.813A>G c.*279A>G (n.*279A>G) c.-183A>G (n.-183A>G) c.373A>G (p.Ile125Val) | dbSNP |
| 11 | g.1759022T>G | CA379097430 | CTSD | c.418A>C (p.Ile140Leu) c.313A>C (p.Ile105Leu) c.397A>C (p.Ile133Leu) c.412A>C (p.Ile138Leu) n.2846A>C n.813A>C c.*279A>C (n.*279A>C) c.-183A>C (n.-183A>C) c.373A>C (p.Ile125Leu) | |
| 11 | g.1759022T= | CA1947834027 | CTSD | c.418A= (p.Ile140=) c.313A= (p.Ile105=) c.397A= (p.Ile133=) c.412A= (p.Ile138=) n.2846A= n.813A= c.*279A= (n.*279A=) c.-183A= (n.-183A=) c.373A= (p.Ile125=) | |
| 11 | g.1759023G>A | CA471987466 | CTSD | c.417C>T (p.Asp139=) c.312C>T (p.Asp104=) c.396C>T (p.Asp132=) c.411C>T (p.Asp137=) n.2845C>T n.812C>T c.*278C>T (n.*278C>T) c.-184C>T (n.-184C>T) c.372C>T (p.Asp124=) | gnomAD v4 |
| 11 | g.1759023G>C | CA379097435 | CTSD | c.417C>G (p.Asp139Glu) c.312C>G (p.Asp104Glu) c.396C>G (p.Asp132Glu) c.411C>G (p.Asp137Glu) n.2845C>G n.812C>G c.*278C>G (n.*278C>G) c.-184C>G (n.-184C>G) c.372C>G (p.Asp124Glu) | |
| 11 | g.1759023G>T | CA379097432 | CTSD | c.417C>A (p.Asp139Glu) c.312C>A (p.Asp104Glu) c.396C>A (p.Asp132Glu) c.411C>A (p.Asp137Glu) n.2845C>A n.812C>A c.*278C>A (n.*278C>A) c.-184C>A (n.-184C>A) c.372C>A (p.Asp124Glu) | |
| 11 | g.1759024T>A | CA379097436 | CTSD | c.416A>T (p.Asp139Val) c.311A>T (p.Asp104Val) c.395A>T (p.Asp132Val) c.410A>T (p.Asp137Val) n.2844A>T n.811A>T c.*277A>T (n.*277A>T) c.-185A>T (n.-185A>T) c.371A>T (p.Asp124Val) | |
| 11 | g.1759024T>C | CA379097439 | CTSD | c.416A>G (p.Asp139Gly) c.311A>G (p.Asp104Gly) c.395A>G (p.Asp132Gly) c.410A>G (p.Asp137Gly) n.2844A>G n.811A>G c.*277A>G (n.*277A>G) c.-185A>G (n.-185A>G) c.371A>G (p.Asp124Gly) | |
| 11 | g.1759024T>G | CA379097437 | CTSD | c.416A>C (p.Asp139Ala) c.311A>C (p.Asp104Ala) c.395A>C (p.Asp132Ala) c.410A>C (p.Asp137Ala) n.2844A>C n.811A>C c.*277A>C (n.*277A>C) c.-185A>C (n.-185A>C) c.371A>C (p.Asp124Ala) | |
| 11 | g.1759025C>A | CA379097441 | CTSD | c.415G>T (p.Asp139Tyr) c.310G>T (p.Asp104Tyr) c.394G>T (p.Asp132Tyr) c.409G>T (p.Asp137Tyr) n.2843G>T n.810G>T c.*276G>T (n.*276G>T) c.-186G>T (n.-186G>T) c.370G>T (p.Asp124Tyr) | |
| 11 | g.1759025C>G | CA379097445 | CTSD | c.415G>C (p.Asp139His) c.310G>C (p.Asp104His) c.394G>C (p.Asp132His) c.409G>C (p.Asp137His) n.2843G>C n.810G>C c.*276G>C (n.*276G>C) c.-186G>C (n.-186G>C) c.370G>C (p.Asp124His) | |
| 11 | g.1759025C>T | CA379097443 | CTSD | c.415G>A (p.Asp139Asn) c.310G>A (p.Asp104Asn) c.394G>A (p.Asp132Asn) c.409G>A (p.Asp137Asn) n.2843G>A n.810G>A c.*276G>A (n.*276G>A) c.-186G>A (n.-186G>A) c.370G>A (p.Asp124Asn) | |
| 11 | g.1759026A>C | CA379097446 | CTSD | c.414T>G (p.Phe138Leu) c.309T>G (p.Phe103Leu) c.393T>G (p.Phe131Leu) c.408T>G (p.Phe136Leu) n.2842T>G n.809T>G c.*275T>G (n.*275T>G) c.-187T>G (n.-187T>G) c.369T>G (p.Phe123Leu) | |
| 11 | g.1759026A>G | CA471987479 | CTSD | c.414T>C (p.Phe138=) c.309T>C (p.Phe103=) c.393T>C (p.Phe131=) c.408T>C (p.Phe136=) n.2842T>C n.809T>C c.*275T>C (n.*275T>C) c.-187T>C (n.-187T>C) c.369T>C (p.Phe123=) | |
| 11 | g.1759026A>T | CA379097448 | CTSD | c.414T>A (p.Phe138Leu) c.309T>A (p.Phe103Leu) c.393T>A (p.Phe131Leu) c.408T>A (p.Phe136Leu) n.2842T>A n.809T>A c.*275T>A (n.*275T>A) c.-187T>A (n.-187T>A) c.369T>A (p.Phe123Leu) | |
| 11 | g.1759027A>C | CA379097451 | CTSD | c.413T>G (p.Phe138Cys) c.308T>G (p.Phe103Cys) c.392T>G (p.Phe131Cys) c.407T>G (p.Phe136Cys) n.2841T>G n.808T>G c.*274T>G (n.*274T>G) c.-188T>G (n.-188T>G) c.368T>G (p.Phe123Cys) | |
| 11 | g.1759027A>G | CA379097453 | CTSD | c.413T>C (p.Phe138Ser) c.308T>C (p.Phe103Ser) c.392T>C (p.Phe131Ser) c.407T>C (p.Phe136Ser) n.2841T>C n.808T>C c.*274T>C (n.*274T>C) c.-188T>C (n.-188T>C) c.368T>C (p.Phe123Ser) | |
| 11 | g.1759027A>T | CA379097455 | CTSD | c.413T>A (p.Phe138Tyr) c.308T>A (p.Phe103Tyr) c.392T>A (p.Phe131Tyr) c.407T>A (p.Phe136Tyr) n.2841T>A n.808T>A c.*274T>A (n.*274T>A) c.-188T>A (n.-188T>A) c.368T>A (p.Phe123Tyr) | |
| 11 | g.1759028A>C | CA379097458 | CTSD | c.412T>G (p.Phe138Val) c.307T>G (p.Phe103Val) c.391T>G (p.Phe131Val) c.406T>G (p.Phe136Val) n.2840T>G n.807T>G c.*273T>G (n.*273T>G) c.-189T>G (n.-189T>G) c.367T>G (p.Phe123Val) | |
| 11 | g.1759028A>G | CA379097459 | CTSD | c.412T>C (p.Phe138Leu) c.307T>C (p.Phe103Leu) c.391T>C (p.Phe131Leu) c.406T>C (p.Phe136Leu) n.2840T>C n.807T>C c.*273T>C (n.*273T>C) c.-189T>C (n.-189T>C) c.367T>C (p.Phe123Leu) | |
| 11 | g.1759028A>T | CA379097462 | CTSD | c.412T>A (p.Phe138Ile) c.307T>A (p.Phe103Ile) c.391T>A (p.Phe131Ile) c.406T>A (p.Phe136Ile) n.2840T>A n.807T>A c.*273T>A (n.*273T>A) c.-189T>A (n.-189T>A) c.367T>A (p.Phe123Ile) | |
| 11 | g.1759030_1759036dup | CA2611924395 | CTSD | c.406_412dup (p.Phe138TyrfsTer4) c.301_307dup (p.Phe103TyrfsTer4) c.385_391dup (p.Phe131TyrfsTer4) c.400_406dup (p.Phe136TyrfsTer4) n.2834_2840dup n.801_807dup c.*267_*273dup (n.*267_*273dup) c.-195_-189dup (n.-195_-189dup) c.361_367dup (p.Phe123TyrfsTer4) | gnomAD v4 |
| 11 | g.1759029C>A | CA471987494 | CTSD | c.411G>T (p.Ser137=) c.306G>T (p.Ser102=) c.390G>T (p.Ser130=) c.405G>T (p.Ser135=) n.2839G>T n.806G>T c.*272G>T (n.*272G>T) c.-190G>T (n.-190G>T) c.366G>T (p.Ser122=) | |
| 11 | g.1759029C= | CA1947834030 | CTSD | c.411G= (p.Ser137=) c.306G= (p.Ser102=) c.390G= (p.Ser130=) c.405G= (p.Ser135=) n.2839G= n.806G= c.*272G= (n.*272G=) c.-190G= (n.-190G=) c.366G= (p.Ser122=) | |
| 11 | g.1759029C>G | CA471987491 | CTSD | c.411G>C (p.Ser137=) c.306G>C (p.Ser102=) c.390G>C (p.Ser130=) c.405G>C (p.Ser135=) n.2839G>C n.806G>C c.*272G>C (n.*272G>C) c.-190G>C (n.-190G>C) c.366G>C (p.Ser122=) | gnomAD v4 |
| 11 | g.1759029C>T | CA5814183 | CTSD | c.411G>A (p.Ser137=) c.306G>A (p.Ser102=) c.390G>A (p.Ser130=) c.405G>A (p.Ser135=) n.2839G>A n.806G>A c.*272G>A (n.*272G>A) c.-190G>A (n.-190G>A) c.366G>A (p.Ser122=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1759030G>A | CA5814184 | CTSD | c.410C>T (p.Ser137Leu) c.305C>T (p.Ser102Leu) c.389C>T (p.Ser130Leu) c.404C>T (p.Ser135Leu) n.2838C>T n.805C>T c.*271C>T (n.*271C>T) c.-191C>T (n.-191C>T) c.365C>T (p.Ser122Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1759030G>C | CA379097467 | CTSD | c.410C>G (p.Ser137Trp) c.305C>G (p.Ser102Trp) c.389C>G (p.Ser130Trp) c.404C>G (p.Ser135Trp) n.2838C>G n.805C>G c.*271C>G (n.*271C>G) c.-191C>G (n.-191C>G) c.365C>G (p.Ser122Trp) | |
| 11 | g.1759030G= | CA1947834031 | CTSD | c.410C= (p.Ser137=) c.305C= (p.Ser102=) c.389C= (p.Ser130=) c.404C= (p.Ser135=) n.2838C= n.805C= c.*271C= (n.*271C=) c.-191C= (n.-191C=) c.365C= (p.Ser122=) | |
| 11 | g.1759030G>T | CA379097469 | CTSD | c.410C>A (p.Ser137Ter) c.305C>A (p.Ser102Ter) c.389C>A (p.Ser130Ter) c.404C>A (p.Ser135Ter) n.2838C>A n.805C>A c.*271C>A (n.*271C>A) c.-191C>A (n.-191C>A) c.365C>A (p.Ser122Ter) | |
| 11 | g.1759031A= | CA1947834033 | CTSD | c.409T= (p.Ser137=) c.304T= (p.Ser102=) c.388T= (p.Ser130=) c.403T= (p.Ser135=) n.2837T= n.804T= c.*270T= (n.*270T=) c.-192T= (n.-192T=) c.364T= (p.Ser122=) | |
| 11 | g.1759031A>C | CA379097473 | CTSD | c.409T>G (p.Ser137Ala) c.304T>G (p.Ser102Ala) c.388T>G (p.Ser130Ala) c.403T>G (p.Ser135Ala) n.2837T>G n.804T>G c.*270T>G (n.*270T>G) c.-192T>G (n.-192T>G) c.364T>G (p.Ser122Ala) | |
| 11 | g.1759031A>G | CA379097475 | CTSD | c.409T>C (p.Ser137Pro) c.304T>C (p.Ser102Pro) c.388T>C (p.Ser130Pro) c.403T>C (p.Ser135Pro) n.2837T>C n.804T>C c.*270T>C (n.*270T>C) c.-192T>C (n.-192T>C) c.364T>C (p.Ser122Pro) | |
| 11 | g.1759031A>T | CA379097478 | CTSD | c.409T>A (p.Ser137Thr) c.304T>A (p.Ser102Thr) c.388T>A (p.Ser130Thr) c.403T>A (p.Ser135Thr) n.2837T>A n.804T>A c.*270T>A (n.*270T>A) c.-192T>A (n.-192T>A) c.364T>A (p.Ser122Thr) | ClinVar dbSNP |
| 11 | g.1759032G>A | CA471987502 | CTSD | c.408C>T (p.Thr136=) c.303C>T (p.Thr101=) c.387C>T (p.Thr129=) c.402C>T (p.Thr134=) n.2836C>T n.803C>T c.*269C>T (n.*269C>T) c.-193C>T (n.-193C>T) c.363C>T (p.Thr121=) | dbSNP gnomAD v4 |
| 11 | g.1759032G>C | CA16613272 | CTSD | c.408C>G (p.Thr136=) c.303C>G (p.Thr101=) c.387C>G (p.Thr129=) c.402C>G (p.Thr134=) n.2836C>G n.803C>G c.*269C>G (n.*269C>G) c.-193C>G (n.-193C>G) c.363C>G (p.Thr121=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.1759032G= | CA1947834035 | CTSD | c.408C= (p.Thr136=) c.303C= (p.Thr101=) c.387C= (p.Thr129=) c.402C= (p.Thr134=) n.2836C= n.803C= c.*269C= (n.*269C=) c.-193C= (n.-193C=) c.363C= (p.Thr121=) | |
| 11 | g.1759032G>T | CA471987507 | CTSD | c.408C>A (p.Thr136=) c.303C>A (p.Thr101=) c.387C>A (p.Thr129=) c.402C>A (p.Thr134=) n.2836C>A n.803C>A c.*269C>A (n.*269C>A) c.-193C>A (n.-193C>A) c.363C>A (p.Thr121=) | |
| 11 | g.1759033G>A | CA216174922 | CTSD | c.407C>T (p.Thr136Ile) c.302C>T (p.Thr101Ile) c.386C>T (p.Thr129Ile) c.401C>T (p.Thr134Ile) n.2835C>T n.802C>T c.*268C>T (n.*268C>T) c.-194C>T (n.-194C>T) c.362C>T (p.Thr121Ile) | ClinVar dbSNP |
| 11 | g.1759033G>C | CA379097483 | CTSD | c.407C>G (p.Thr136Ser) c.302C>G (p.Thr101Ser) c.386C>G (p.Thr129Ser) c.401C>G (p.Thr134Ser) n.2835C>G n.802C>G c.*268C>G (n.*268C>G) c.-194C>G (n.-194C>G) c.362C>G (p.Thr121Ser) | |
| 11 | g.1759033G= | CA1947834036 | CTSD | c.407C= (p.Thr136=) c.302C= (p.Thr101=) c.386C= (p.Thr129=) c.401C= (p.Thr134=) n.2835C= n.802C= c.*268C= (n.*268C=) c.-194C= (n.-194C=) c.362C= (p.Thr121=) | |
| 11 | g.1759033G>T | CA379097480 | CTSD | c.407C>A (p.Thr136Asn) c.302C>A (p.Thr101Asn) c.386C>A (p.Thr129Asn) c.401C>A (p.Thr134Asn) n.2835C>A n.802C>A c.*268C>A (n.*268C>A) c.-194C>A (n.-194C>A) c.362C>A (p.Thr121Asn) | |
| 11 | g.1759034T>A | CA379097485 | CTSD | c.406A>T (p.Thr136Ser) c.301A>T (p.Thr101Ser) c.385A>T (p.Thr129Ser) c.400A>T (p.Thr134Ser) n.2834A>T n.801A>T c.*267A>T (n.*267A>T) c.-195A>T (n.-195A>T) c.361A>T (p.Thr121Ser) | |
| 11 | g.1759034T>C | CA379097486 | CTSD | c.406A>G (p.Thr136Ala) c.301A>G (p.Thr101Ala) c.385A>G (p.Thr129Ala) c.400A>G (p.Thr134Ala) n.2834A>G n.801A>G c.*267A>G (n.*267A>G) c.-195A>G (n.-195A>G) c.361A>G (p.Thr121Ala) | |
| 11 | g.1759034T>G | CA379097487 | CTSD | c.406A>C (p.Thr136Pro) c.301A>C (p.Thr101Pro) c.385A>C (p.Thr129Pro) c.400A>C (p.Thr134Pro) n.2834A>C n.801A>C c.*267A>C (n.*267A>C) c.-195A>C (n.-195A>C) c.361A>C (p.Thr121Pro) | |
| 11 | g.1759035A>C | CA471987518 | CTSD | c.405T>G (p.Gly135=) c.300T>G (p.Gly100=) c.384T>G (p.Gly128=) c.399T>G (p.Gly133=) n.2833T>G n.800T>G c.*266T>G (n.*266T>G) c.-196T>G (n.-196T>G) c.360T>G (p.Gly120=) | |
| 11 | g.1759035A>G | CA471987520 | CTSD | c.405T>C (p.Gly135=) c.300T>C (p.Gly100=) c.384T>C (p.Gly128=) c.399T>C (p.Gly133=) n.2833T>C n.800T>C c.*266T>C (n.*266T>C) c.-196T>C (n.-196T>C) c.360T>C (p.Gly120=) | |
| 11 | g.1759035A>T | CA471987521 | CTSD | c.405T>A (p.Gly135=) c.300T>A (p.Gly100=) c.384T>A (p.Gly128=) c.399T>A (p.Gly133=) n.2833T>A n.800T>A c.*266T>A (n.*266T>A) c.-196T>A (n.-196T>A) c.360T>A (p.Gly120=) | |
| 11 | g.1759036C>A | CA379097490 | CTSD | c.404G>T (p.Gly135Val) c.299G>T (p.Gly100Val) c.383G>T (p.Gly128Val) c.398G>T (p.Gly133Val) n.2832G>T n.799G>T c.*265G>T (n.*265G>T) c.-197G>T (n.-197G>T) c.359G>T (p.Gly120Val) | gnomAD v4 |
| 11 | g.1759036C>G | CA379097492 | CTSD | c.404G>C (p.Gly135Ala) c.299G>C (p.Gly100Ala) c.383G>C (p.Gly128Ala) c.398G>C (p.Gly133Ala) n.2832G>C n.799G>C c.*265G>C (n.*265G>C) c.-197G>C (n.-197G>C) c.359G>C (p.Gly120Ala) | |
| 11 | g.1759036C>T | CA379097493 | CTSD | c.404G>A (p.Gly135Asp) c.299G>A (p.Gly100Asp) c.383G>A (p.Gly128Asp) c.398G>A (p.Gly133Asp) n.2832G>A n.799G>A c.*265G>A (n.*265G>A) c.-197G>A (n.-197G>A) c.359G>A (p.Gly120Asp) | gnomAD v4 |
| 11 | g.1759037C>A | CA379097497 | CTSD | c.403G>T (p.Gly135Cys) c.298G>T (p.Gly100Cys) c.382G>T (p.Gly128Cys) c.397G>T (p.Gly133Cys) n.2831G>T n.798G>T c.*264G>T (n.*264G>T) c.-198G>T (n.-198G>T) c.358G>T (p.Gly120Cys) | |
| 11 | g.1759037C>G | CA379097498 | CTSD | c.403G>C (p.Gly135Arg) c.298G>C (p.Gly100Arg) c.382G>C (p.Gly128Arg) c.397G>C (p.Gly133Arg) n.2831G>C n.798G>C c.*264G>C (n.*264G>C) c.-198G>C (n.-198G>C) c.358G>C (p.Gly120Arg) | |
| 11 | g.1759037C>T | CA379097500 | CTSD | c.403G>A (p.Gly135Ser) c.298G>A (p.Gly100Ser) c.382G>A (p.Gly128Ser) c.397G>A (p.Gly133Ser) n.2831G>A n.798G>A c.*264G>A (n.*264G>A) c.-198G>A (n.-198G>A) c.358G>A (p.Gly120Ser) | |
| 11 | g.1759038A>C | CA379097502 | CTSD | c.402T>G (p.Asn134Lys) c.297T>G (p.Asn99Lys) c.381T>G (p.Asn127Lys) c.396T>G (p.Asn132Lys) n.2830T>G n.797T>G c.*263T>G (n.*263T>G) c.-199T>G (n.-199T>G) c.357T>G (p.Asn119Lys) | |
| 11 | g.1759038A>G | CA471987530 | CTSD | c.402T>C (p.Asn134=) c.297T>C (p.Asn99=) c.381T>C (p.Asn127=) c.396T>C (p.Asn132=) n.2830T>C n.797T>C c.*263T>C (n.*263T>C) c.-199T>C (n.-199T>C) c.357T>C (p.Asn119=) | |
| 11 | g.1759038A>T | CA379097505 | CTSD | c.402T>A (p.Asn134Lys) c.297T>A (p.Asn99Lys) c.381T>A (p.Asn127Lys) c.396T>A (p.Asn132Lys) n.2830T>A n.797T>A c.*263T>A (n.*263T>A) c.-199T>A (n.-199T>A) c.357T>A (p.Asn119Lys) | |
| 11 | g.1759039T>A | CA379097507 | CTSD | c.401A>T (p.Asn134Ile) c.296A>T (p.Asn99Ile) c.380A>T (p.Asn127Ile) c.395A>T (p.Asn132Ile) n.2829A>T n.796A>T c.*262A>T (n.*262A>T) c.-200A>T (n.-200A>T) c.356A>T (p.Asn119Ile) | |
| 11 | g.1759039T>C | CA379097512 | CTSD | c.401A>G (p.Asn134Ser) c.296A>G (p.Asn99Ser) c.380A>G (p.Asn127Ser) c.395A>G (p.Asn132Ser) n.2829A>G n.796A>G c.*262A>G (n.*262A>G) c.-200A>G (n.-200A>G) c.356A>G (p.Asn119Ser) | gnomAD v4 |
| 11 | g.1759039T>G | CA379097510 | CTSD | c.401A>C (p.Asn134Thr) c.296A>C (p.Asn99Thr) c.380A>C (p.Asn127Thr) c.395A>C (p.Asn132Thr) n.2829A>C n.796A>C c.*262A>C (n.*262A>C) c.-200A>C (n.-200A>C) c.356A>C (p.Asn119Thr) | |
| 11 | g.1759040T>A | CA379097515 | CTSD | c.400A>T (p.Asn134Tyr) c.295A>T (p.Asn99Tyr) c.379A>T (p.Asn127Tyr) c.394A>T (p.Asn132Tyr) n.2828A>T n.795A>T c.*261A>T (n.*261A>T) c.-201A>T (n.-201A>T) c.355A>T (p.Asn119Tyr) | |
| 11 | g.1759040T>C | CA379097517 | CTSD | c.400A>G (p.Asn134Asp) c.295A>G (p.Asn99Asp) c.379A>G (p.Asn127Asp) c.394A>G (p.Asn132Asp) n.2828A>G n.795A>G c.*261A>G (n.*261A>G) c.-201A>G (n.-201A>G) c.355A>G (p.Asn119Asp) | |
| 11 | g.1759040T>G | CA379097519 | CTSD | c.400A>C (p.Asn134His) c.295A>C (p.Asn99His) c.379A>C (p.Asn127His) c.394A>C (p.Asn132His) n.2828A>C n.795A>C c.*261A>C (n.*261A>C) c.-201A>C (n.-201A>C) c.355A>C (p.Asn119His) | |
| 11 | g.1759041C>A | CA379097522 | CTSD | c.399G>T (p.Lys133Asn) c.294G>T (p.Lys98Asn) c.378G>T (p.Lys126Asn) c.393G>T (p.Lys131Asn) n.2827G>T n.794G>T c.*260G>T (n.*260G>T) c.-202G>T (n.-202G>T) c.354G>T (p.Lys118Asn) | |
| 11 | g.1759041C= | CA1947834037 | CTSD | c.399G= (p.Lys133=) c.294G= (p.Lys98=) c.378G= (p.Lys126=) c.393G= (p.Lys131=) n.2827G= n.794G= c.*260G= (n.*260G=) c.-202G= (n.-202G=) c.354G= (p.Lys118=) | |
| 11 | g.1759041C>G | CA379097525 | CTSD | c.399G>C (p.Lys133Asn) c.294G>C (p.Lys98Asn) c.378G>C (p.Lys126Asn) c.393G>C (p.Lys131Asn) n.2827G>C n.794G>C c.*260G>C (n.*260G>C) c.-202G>C (n.-202G>C) c.354G>C (p.Lys118Asn) | |
| 11 | g.1759041C>T | CA5814185 | CTSD | c.399G>A (p.Lys133=) c.294G>A (p.Lys98=) c.378G>A (p.Lys126=) c.393G>A (p.Lys131=) n.2827G>A n.794G>A c.*260G>A (n.*260G>A) c.-202G>A (n.-202G>A) c.354G>A (p.Lys118=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.1759042T>A | CA379097529 | CTSD | c.398A>T (p.Lys133Met) c.293A>T (p.Lys98Met) c.377A>T (p.Lys126Met) c.392A>T (p.Lys131Met) n.2826A>T n.793A>T c.*259A>T (n.*259A>T) c.-203A>T (n.-203A>T) c.353A>T (p.Lys118Met) | |
| 11 | g.1759042T>C | CA379097531 | CTSD | c.398A>G (p.Lys133Arg) c.293A>G (p.Lys98Arg) c.377A>G (p.Lys126Arg) c.392A>G (p.Lys131Arg) n.2826A>G n.793A>G c.*259A>G (n.*259A>G) c.-203A>G (n.-203A>G) c.353A>G (p.Lys118Arg) | |
| 11 | g.1759042T>G | CA379097533 | CTSD | c.398A>C (p.Lys133Thr) c.293A>C (p.Lys98Thr) c.377A>C (p.Lys126Thr) c.392A>C (p.Lys131Thr) n.2826A>C n.793A>C c.*259A>C (n.*259A>C) c.-203A>C (n.-203A>C) c.353A>C (p.Lys118Thr) | |
| 11 | g.1759043T>A | CA379097535 | CTSD | c.397A>T (p.Lys133Ter) c.292A>T (p.Lys98Ter) c.376A>T (p.Lys126Ter) c.391A>T (p.Lys131Ter) n.2825A>T n.792A>T c.*258A>T (n.*258A>T) c.-204A>T (n.-204A>T) c.352A>T (p.Lys118Ter) | |
| 11 | g.1759043T>C | CA379097537 | CTSD | c.397A>G (p.Lys133Glu) c.292A>G (p.Lys98Glu) c.376A>G (p.Lys126Glu) c.391A>G (p.Lys131Glu) n.2825A>G n.792A>G c.*258A>G (n.*258A>G) c.-204A>G (n.-204A>G) c.352A>G (p.Lys118Glu) | |
| 11 | g.1759043T>G | CA379097539 | CTSD | c.397A>C (p.Lys133Gln) c.292A>C (p.Lys98Gln) c.376A>C (p.Lys126Gln) c.391A>C (p.Lys131Gln) n.2825A>C n.792A>C c.*258A>C (n.*258A>C) c.-204A>C (n.-204A>C) c.352A>C (p.Lys118Gln) | |
| 11 | g.1759044C>A | CA471987548 | CTSD | c.396G>T (p.Val132=) c.291G>T (p.Val97=) c.375G>T (p.Val125=) c.390G>T (p.Val130=) n.2824G>T n.791G>T c.*257G>T (n.*257G>T) c.-205G>T (n.-205G>T) c.351G>T (p.Val117=) | |
| 11 | g.1759044C>G | CA471987550 | CTSD | c.396G>C (p.Val132=) c.291G>C (p.Val97=) c.375G>C (p.Val125=) c.390G>C (p.Val130=) n.2824G>C n.791G>C c.*257G>C (n.*257G>C) c.-205G>C (n.-205G>C) c.351G>C (p.Val117=) | |
| 11 | g.1759044C>T | CA471987552 | CTSD | c.396G>A (p.Val132=) c.291G>A (p.Val97=) c.375G>A (p.Val125=) c.390G>A (p.Val130=) n.2824G>A n.791G>A c.*257G>A (n.*257G>A) c.-205G>A (n.-205G>A) c.351G>A (p.Val117=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.1759045A>C | CA379097546 | CTSD | c.395T>G (p.Val132Gly) c.290T>G (p.Val97Gly) c.374T>G (p.Val125Gly) c.389T>G (p.Val130Gly) n.2823T>G n.790T>G c.*256T>G (n.*256T>G) c.-206T>G (n.-206T>G) c.350T>G (p.Val117Gly) | |
| 11 | g.1759045A>G | CA379097542 | CTSD | c.395T>C (p.Val132Ala) c.290T>C (p.Val97Ala) c.374T>C (p.Val125Ala) c.389T>C (p.Val130Ala) n.2823T>C n.790T>C c.*256T>C (n.*256T>C) c.-206T>C (n.-206T>C) c.350T>C (p.Val117Ala) | |
| 11 | g.1759045A>T | CA379097543 | CTSD | c.395T>A (p.Val132Glu) c.290T>A (p.Val97Glu) c.374T>A (p.Val125Glu) c.389T>A (p.Val130Glu) n.2823T>A n.790T>A c.*256T>A (n.*256T>A) c.-206T>A (n.-206T>A) c.350T>A (p.Val117Glu) | |
| 11 | g.1759046C>A | CA379097549 | CTSD | c.394G>T (p.Val132Leu) c.289G>T (p.Val97Leu) c.373G>T (p.Val125Leu) c.388G>T (p.Val130Leu) n.2822G>T n.789G>T c.*255G>T (n.*255G>T) c.-207G>T (n.-207G>T) c.349G>T (p.Val117Leu) | gnomAD v4 |
| 11 | g.1759046C= | CA1947834042 | CTSD | c.394G= (p.Val132=) c.289G= (p.Val97=) c.373G= (p.Val125=) c.388G= (p.Val130=) n.2822G= n.789G= c.*255G= (n.*255G=) c.-207G= (n.-207G=) c.349G= (p.Val117=) | |
| 11 | g.1759046C>G | CA379097551 | CTSD | c.394G>C (p.Val132Leu) c.289G>C (p.Val97Leu) c.373G>C (p.Val125Leu) c.388G>C (p.Val130Leu) n.2822G>C n.789G>C c.*255G>C (n.*255G>C) c.-207G>C (n.-207G>C) c.349G>C (p.Val117Leu) | dbSNP |
| 11 | g.1759046C>T | CA5814186 | CTSD | c.394G>A (p.Val132Met) c.289G>A (p.Val97Met) c.373G>A (p.Val125Met) c.388G>A (p.Val130Met) n.2822G>A n.789G>A c.*255G>A (n.*255G>A) c.-207G>A (n.-207G>A) c.349G>A (p.Val117Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.1759047G>A | CA5814187 | CTSD | c.393C>T (p.Tyr131=) c.288C>T (p.Tyr96=) c.372C>T (p.Tyr124=) c.387C>T (p.Tyr129=) n.2821C>T n.788C>T c.*254C>T (n.*254C>T) c.-208C>T (n.-208C>T) c.348C>T (p.Tyr116=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1759047G>C | CA379097555 | CTSD | c.393C>G (p.Tyr131Ter) c.288C>G (p.Tyr96Ter) c.372C>G (p.Tyr124Ter) c.387C>G (p.Tyr129Ter) n.2821C>G n.788C>G c.*254C>G (n.*254C>G) c.-208C>G (n.-208C>G) c.348C>G (p.Tyr116Ter) | gnomAD v4 |
| 11 | g.1759047G= | CA1947834048 | CTSD | c.393C= (p.Tyr131=) c.288C= (p.Tyr96=) c.372C= (p.Tyr124=) c.387C= (p.Tyr129=) n.2821C= n.788C= c.*254C= (n.*254C=) c.-208C= (n.-208C=) c.348C= (p.Tyr116=) | |
| 11 | g.1759047G>T | CA379097557 | CTSD | c.393C>A (p.Tyr131Ter) c.288C>A (p.Tyr96Ter) c.372C>A (p.Tyr124Ter) c.387C>A (p.Tyr129Ter) n.2821C>A n.788C>A c.*254C>A (n.*254C>A) c.-208C>A (n.-208C>A) c.348C>A (p.Tyr116Ter) | |
| 11 | g.1759048T>A | CA379097559 | CTSD | c.392A>T (p.Tyr131Phe) c.287A>T (p.Tyr96Phe) c.371A>T (p.Tyr124Phe) c.386A>T (p.Tyr129Phe) n.2820A>T n.787A>T c.*253A>T (n.*253A>T) c.-209A>T (n.-209A>T) c.347A>T (p.Tyr116Phe) | |
| 11 | g.1759048T>C | CA5814188 | CTSD | c.392A>G (p.Tyr131Cys) c.287A>G (p.Tyr96Cys) c.371A>G (p.Tyr124Cys) c.386A>G (p.Tyr129Cys) n.2820A>G n.787A>G c.*253A>G (n.*253A>G) c.-209A>G (n.-209A>G) c.347A>G (p.Tyr116Cys) | dbSNP ExAC gnomAD v4 |
| 11 | g.1759048T>G | CA379097561 | CTSD | c.392A>C (p.Tyr131Ser) c.287A>C (p.Tyr96Ser) c.371A>C (p.Tyr124Ser) c.386A>C (p.Tyr129Ser) n.2820A>C n.787A>C c.*253A>C (n.*253A>C) c.-209A>C (n.-209A>C) c.347A>C (p.Tyr116Ser) | |
| 11 | g.1759048T= | CA1947834051 | CTSD | c.392A= (p.Tyr131=) c.287A= (p.Tyr96=) c.371A= (p.Tyr124=) c.386A= (p.Tyr129=) n.2820A= n.787A= c.*253A= (n.*253A=) c.-209A= (n.-209A=) c.347A= (p.Tyr116=) | |
| 11 | g.1759049A>C | CA379097565 | CTSD | c.391T>G (p.Tyr131Asp) c.286T>G (p.Tyr96Asp) c.370T>G (p.Tyr124Asp) c.385T>G (p.Tyr129Asp) n.2819T>G n.786T>G c.*252T>G (n.*252T>G) c.-210T>G (n.-210T>G) c.346T>G (p.Tyr116Asp) | |
| 11 | g.1759049A>G | CA379097566 | CTSD | c.391T>C (p.Tyr131His) c.286T>C (p.Tyr96His) c.370T>C (p.Tyr124His) c.385T>C (p.Tyr129His) n.2819T>C n.786T>C c.*252T>C (n.*252T>C) c.-210T>C (n.-210T>C) c.346T>C (p.Tyr116His) | gnomAD v4 |
| 11 | g.1759049A>T | CA379097569 | CTSD | c.391T>A (p.Tyr131Asn) c.286T>A (p.Tyr96Asn) c.370T>A (p.Tyr124Asn) c.385T>A (p.Tyr129Asn) n.2819T>A n.786T>A c.*252T>A (n.*252T>A) c.-210T>A (n.-210T>A) c.346T>A (p.Tyr116Asn) | |
| 11 | g.1759050G>A | CA471987571 | CTSD | c.390C>T (p.Thr130=) c.285C>T (p.Thr95=) c.369C>T (p.Thr123=) c.384C>T (p.Thr128=) n.2818C>T n.785C>T c.*251C>T (n.*251C>T) c.-211C>T (n.-211C>T) c.345C>T (p.Thr115=) | ClinVar |
| 11 | g.1759050G>C | CA471987570 | CTSD | c.390C>G (p.Thr130=) c.285C>G (p.Thr95=) c.369C>G (p.Thr123=) c.384C>G (p.Thr128=) n.2818C>G n.785C>G c.*251C>G (n.*251C>G) c.-211C>G (n.-211C>G) c.345C>G (p.Thr115=) | |
| 11 | g.1759050G>T | CA471987569 | CTSD | c.390C>A (p.Thr130=) c.285C>A (p.Thr95=) c.369C>A (p.Thr123=) c.384C>A (p.Thr128=) n.2818C>A n.785C>A c.*251C>A (n.*251C>A) c.-211C>A (n.-211C>A) c.345C>A (p.Thr115=) | |
| 11 | g.1759051G>A | CA379097577 | CTSD | c.389C>T (p.Thr130Ile) c.284C>T (p.Thr95Ile) c.368C>T (p.Thr123Ile) c.383C>T (p.Thr128Ile) n.2817C>T n.784C>T c.*250C>T (n.*250C>T) c.-212C>T (n.-212C>T) c.344C>T (p.Thr115Ile) | |
| 11 | g.1759051G>C | CA379097574 | CTSD | c.389C>G (p.Thr130Ser) c.284C>G (p.Thr95Ser) c.368C>G (p.Thr123Ser) c.383C>G (p.Thr128Ser) n.2817C>G n.784C>G c.*250C>G (n.*250C>G) c.-212C>G (n.-212C>G) c.344C>G (p.Thr115Ser) | |
| 11 | g.1759051G>T | CA379097572 | CTSD | c.389C>A (p.Thr130Asn) c.284C>A (p.Thr95Asn) c.368C>A (p.Thr123Asn) c.383C>A (p.Thr128Asn) n.2817C>A n.784C>A c.*250C>A (n.*250C>A) c.-212C>A (n.-212C>A) c.344C>A (p.Thr115Asn) | |
| 11 | g.1759052T>A | CA379097581 | CTSD | c.388A>T (p.Thr130Ser) c.283A>T (p.Thr95Ser) c.367A>T (p.Thr123Ser) c.382A>T (p.Thr128Ser) n.2816A>T n.783A>T c.*249A>T (n.*249A>T) c.343A>T (p.Thr115Ser) | |
| 11 | g.1759052T>C | CA379097579 | CTSD | c.388A>G (p.Thr130Ala) c.283A>G (p.Thr95Ala) c.367A>G (p.Thr123Ala) c.382A>G (p.Thr128Ala) n.2816A>G n.783A>G c.*249A>G (n.*249A>G) c.343A>G (p.Thr115Ala) | |
| 11 | g.1759052T>G | CA379097583 | CTSD | c.388A>C (p.Thr130Pro) c.283A>C (p.Thr95Pro) c.367A>C (p.Thr123Pro) c.382A>C (p.Thr128Pro) n.2816A>C n.783A>C c.*249A>C (n.*249A>C) c.343A>C (p.Thr115Pro) | |
| 11 | g.1759053G>A | CA471987582 | CTSD | c.387C>T (p.Ser129=) c.282C>T (p.Ser94=) c.366C>T (p.Ser122=) c.381C>T (p.Ser127=) n.2815C>T n.782C>T c.*248C>T (n.*248C>T) c.342C>T (p.Ser114=) | |
| 11 | g.1759053G>C | CA379097587 | CTSD | c.387C>G (p.Ser129Arg) c.282C>G (p.Ser94Arg) c.366C>G (p.Ser122Arg) c.381C>G (p.Ser127Arg) n.2815C>G n.782C>G c.*248C>G (n.*248C>G) c.342C>G (p.Ser114Arg) | |
| 11 | g.1759053G>T | CA379097588 | CTSD | c.387C>A (p.Ser129Arg) c.282C>A (p.Ser94Arg) c.366C>A (p.Ser122Arg) c.381C>A (p.Ser127Arg) n.2815C>A n.782C>A c.*248C>A (n.*248C>A) c.342C>A (p.Ser114Arg) | |
| 11 | g.1759054C>A | CA379097591 | CTSD | c.386G>T (p.Ser129Ile) c.281G>T (p.Ser94Ile) c.365G>T (p.Ser122Ile) c.380G>T (p.Ser127Ile) n.2814G>T n.781G>T c.*247G>T (n.*247G>T) c.341G>T (p.Ser114Ile) | |
| 11 | g.1759054C>G | CA379097593 | CTSD | c.386G>C (p.Ser129Thr) c.281G>C (p.Ser94Thr) c.365G>C (p.Ser122Thr) c.380G>C (p.Ser127Thr) n.2814G>C n.781G>C c.*247G>C (n.*247G>C) c.341G>C (p.Ser114Thr) | |
| 11 | g.1759054C>T | CA379097595 | CTSD | c.386G>A (p.Ser129Asn) c.281G>A (p.Ser94Asn) c.365G>A (p.Ser122Asn) c.380G>A (p.Ser127Asn) n.2814G>A n.781G>A c.*247G>A (n.*247G>A) c.341G>A (p.Ser114Asn) | |
| 11 | g.1759055T>A | CA379097597 | CTSD | c.385A>T (p.Ser129Cys) c.280A>T (p.Ser94Cys) c.364A>T (p.Ser122Cys) c.379A>T (p.Ser127Cys) n.2813A>T n.780A>T c.*246A>T (n.*246A>T) c.340A>T (p.Ser114Cys) | |
| 11 | g.1759055T>C | CA379097598 | CTSD | c.385A>G (p.Ser129Gly) c.280A>G (p.Ser94Gly) c.364A>G (p.Ser122Gly) c.379A>G (p.Ser127Gly) n.2813A>G n.780A>G c.*246A>G (n.*246A>G) c.340A>G (p.Ser114Gly) | gnomAD v4 |
| 11 | g.1759055T>G | CA379097600 | CTSD | c.385A>C (p.Ser129Arg) c.280A>C (p.Ser94Arg) c.364A>C (p.Ser122Arg) c.379A>C (p.Ser127Arg) n.2813A>C n.780A>C c.*246A>C (n.*246A>C) c.340A>C (p.Ser114Arg) | |
| 11 | g.1759056G>A | CA471987589 | CTSD | c.384C>T (p.Ser128=) c.279C>T (p.Ser93=) c.363C>T (p.Ser121=) c.378C>T (p.Ser126=) n.2812C>T n.779C>T c.*245C>T (n.*245C>T) c.339C>T (p.Ser113=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.1759056G>C | CA471987592 | CTSD | c.384C>G (p.Ser128=) c.279C>G (p.Ser93=) c.363C>G (p.Ser121=) c.378C>G (p.Ser126=) n.2812C>G n.779C>G c.*245C>G (n.*245C>G) c.339C>G (p.Ser113=) | |
| 11 | g.1759056G= | CA1947834052 | CTSD | c.384C= (p.Ser128=) c.279C= (p.Ser93=) c.363C= (p.Ser121=) c.378C= (p.Ser126=) n.2812C= n.779C= c.*245C= (n.*245C=) c.339C= (p.Ser113=) | |
| 11 | g.1759056G>T | CA471987595 | CTSD | c.384C>A (p.Ser128=) c.279C>A (p.Ser93=) c.363C>A (p.Ser121=) c.378C>A (p.Ser126=) n.2812C>A n.779C>A c.*245C>A (n.*245C>A) c.339C>A (p.Ser113=) | |
| 11 | g.1759057G>A | CA379097602 | CTSD | c.383C>T (p.Ser128Phe) c.278C>T (p.Ser93Phe) c.362C>T (p.Ser121Phe) c.377C>T (p.Ser126Phe) n.2811C>T n.778C>T c.*244C>T (n.*244C>T) c.338C>T (p.Ser113Phe) | |
| 11 | g.1759057G>C | CA379097604 | CTSD | c.383C>G (p.Ser128Cys) c.278C>G (p.Ser93Cys) c.362C>G (p.Ser121Cys) c.377C>G (p.Ser126Cys) n.2811C>G n.778C>G c.*244C>G (n.*244C>G) c.338C>G (p.Ser113Cys) | |
| 11 | g.1759057G>T | CA379097606 | CTSD | c.383C>A (p.Ser128Tyr) c.278C>A (p.Ser93Tyr) c.362C>A (p.Ser121Tyr) c.377C>A (p.Ser126Tyr) n.2811C>A n.778C>A c.*244C>A (n.*244C>A) c.338C>A (p.Ser113Tyr) | |
| 11 | g.1759058A>C | CA379097613 | CTSD | c.382T>G (p.Ser128Ala) c.277T>G (p.Ser93Ala) c.361T>G (p.Ser121Ala) c.376T>G (p.Ser126Ala) n.2810T>G n.777T>G c.*243T>G (n.*243T>G) c.337T>G (p.Ser113Ala) | |
| 11 | g.1759058A>G | CA379097611 | CTSD | c.382T>C (p.Ser128Pro) c.277T>C (p.Ser93Pro) c.361T>C (p.Ser121Pro) c.376T>C (p.Ser126Pro) n.2810T>C n.777T>C c.*243T>C (n.*243T>C) c.337T>C (p.Ser113Pro) | |
| 11 | g.1759058A>T | CA379097609 | CTSD | c.382T>A (p.Ser128Thr) c.277T>A (p.Ser93Thr) c.361T>A (p.Ser121Thr) c.376T>A (p.Ser126Thr) n.2810T>A n.777T>A c.*243T>A (n.*243T>A) c.337T>A (p.Ser113Thr) | |
| 11 | g.1759059C>A | CA379097615 | CTSD | c.381G>T (p.Lys127Asn) c.276G>T (p.Lys92Asn) c.360G>T (p.Lys120Asn) c.375G>T (p.Lys125Asn) n.2809G>T n.776G>T c.*242G>T (n.*242G>T) c.336G>T (p.Lys112Asn) | gnomAD v4 |
| 11 | g.1759059C>G | CA379097617 | CTSD | c.381G>C (p.Lys127Asn) c.276G>C (p.Lys92Asn) c.360G>C (p.Lys120Asn) c.375G>C (p.Lys125Asn) n.2809G>C n.776G>C c.*242G>C (n.*242G>C) c.336G>C (p.Lys112Asn) | |
| 11 | g.1759059C>T | CA471987606 | CTSD | c.381G>A (p.Lys127=) c.276G>A (p.Lys92=) c.360G>A (p.Lys120=) c.375G>A (p.Lys125=) n.2809G>A n.776G>A c.*242G>A (n.*242G>A) c.336G>A (p.Lys112=) | |
| 11 | g.1759060T>A | CA379097619 | CTSD | c.380A>T (p.Lys127Met) c.275A>T (p.Lys92Met) c.359A>T (p.Lys120Met) c.374A>T (p.Lys125Met) n.2808A>T n.775A>T c.*241A>T (n.*241A>T) c.335A>T (p.Lys112Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1759060T>C | CA379097621 | CTSD | c.380A>G (p.Lys127Arg) c.275A>G (p.Lys92Arg) c.359A>G (p.Lys120Arg) c.374A>G (p.Lys125Arg) n.2808A>G n.775A>G c.*241A>G (n.*241A>G) c.335A>G (p.Lys112Arg) | ClinVar dbSNP gnomAD v4 |
| 11 | g.1759060T>G | CA379097623 | CTSD | c.380A>C (p.Lys127Thr) c.275A>C (p.Lys92Thr) c.359A>C (p.Lys120Thr) c.374A>C (p.Lys125Thr) n.2808A>C n.775A>C c.*241A>C (n.*241A>C) c.335A>C (p.Lys112Thr) | |
| 11 | g.1759060T= | CA1947834055 | CTSD | c.380A= (p.Lys127=) c.275A= (p.Lys92=) c.359A= (p.Lys120=) c.374A= (p.Lys125=) n.2808A= n.775A= c.*241A= (n.*241A=) c.335A= (p.Lys112=) | |
| 11 | g.1759061T>A | CA379097625 | CTSD | c.379A>T (p.Lys127Ter) c.274A>T (p.Lys92Ter) c.358A>T (p.Lys120Ter) c.373A>T (p.Lys125Ter) n.2807A>T n.774A>T c.*240A>T (n.*240A>T) c.334A>T (p.Lys112Ter) | |
| 11 | g.1759061T>C | CA379097627 | CTSD | c.379A>G (p.Lys127Glu) c.274A>G (p.Lys92Glu) c.358A>G (p.Lys120Glu) c.373A>G (p.Lys125Glu) n.2807A>G n.774A>G c.*240A>G (n.*240A>G) c.334A>G (p.Lys112Glu) | |
| 11 | g.1759061T>G | CA379097629 | CTSD | c.379A>C (p.Lys127Gln) c.274A>C (p.Lys92Gln) c.358A>C (p.Lys120Gln) c.373A>C (p.Lys125Gln) n.2807A>C n.774A>C c.*240A>C (n.*240A>C) c.334A>C (p.Lys112Gln) | |
| 11 | g.1759062G>A | CA471987622 | CTSD | c.378C>T (p.Asp126=) c.273C>T (p.Asp91=) c.357C>T (p.Asp119=) c.372C>T (p.Asp124=) n.2806C>T n.773C>T c.*239C>T (n.*239C>T) c.333C>T (p.Asp111=) | gnomAD v4 |
| 11 | g.1759062G>C | CA379097632 | CTSD | c.378C>G (p.Asp126Glu) c.273C>G (p.Asp91Glu) c.357C>G (p.Asp119Glu) c.372C>G (p.Asp124Glu) n.2806C>G n.773C>G c.*239C>G (n.*239C>G) c.333C>G (p.Asp111Glu) | gnomAD v4 |
| 11 | g.1759062G>T | CA379097634 | CTSD | c.378C>A (p.Asp126Glu) c.273C>A (p.Asp91Glu) c.357C>A (p.Asp119Glu) c.372C>A (p.Asp124Glu) n.2806C>A n.773C>A c.*239C>A (n.*239C>A) c.333C>A (p.Asp111Glu) | ClinVar |
| 11 | g.1759063T>A | CA379097636 | CTSD | c.377A>T (p.Asp126Val) c.272A>T (p.Asp91Val) c.356A>T (p.Asp119Val) c.371A>T (p.Asp124Val) n.2805A>T n.772A>T c.*238A>T (n.*238A>T) c.332A>T (p.Asp111Val) | |
| 11 | g.1759063T>C | CA379097638 | CTSD | c.377A>G (p.Asp126Gly) c.272A>G (p.Asp91Gly) c.356A>G (p.Asp119Gly) c.371A>G (p.Asp124Gly) n.2805A>G n.772A>G c.*238A>G (n.*238A>G) c.332A>G (p.Asp111Gly) | |
| 11 | g.1759063T>G | CA379097640 | CTSD | c.377A>C (p.Asp126Ala) c.272A>C (p.Asp91Ala) c.356A>C (p.Asp119Ala) c.371A>C (p.Asp124Ala) n.2805A>C n.772A>C c.*238A>C (n.*238A>C) c.332A>C (p.Asp111Ala) | |
| 11 | g.1759064C>A | CA379097645 | CTSD | c.376G>T (p.Asp126Tyr) c.271G>T (p.Asp91Tyr) c.355G>T (p.Asp119Tyr) c.370G>T (p.Asp124Tyr) n.2804G>T n.771G>T c.*237G>T (n.*237G>T) c.331G>T (p.Asp111Tyr) | |
| 11 | g.1759064C= | CA1947834059 | CTSD | c.376G= (p.Asp126=) c.271G= (p.Asp91=) c.355G= (p.Asp119=) c.370G= (p.Asp124=) n.2804G= n.771G= c.*237G= (n.*237G=) c.331G= (p.Asp111=) | |
| 11 | g.1759064C>G | CA379097647 | CTSD | c.376G>C (p.Asp126His) c.271G>C (p.Asp91His) c.355G>C (p.Asp119His) c.370G>C (p.Asp124His) n.2804G>C n.771G>C c.*237G>C (n.*237G>C) c.331G>C (p.Asp111His) | |
| 11 | g.1759064C>T | CA314344 | CTSD | c.376G>A (p.Asp126Asn) c.271G>A (p.Asp91Asn) c.355G>A (p.Asp119Asn) c.370G>A (p.Asp124Asn) n.2804G>A n.771G>A c.*237G>A (n.*237G>A) c.331G>A (p.Asp111Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1759065G>A | CA216174972 | CTSD | c.375C>T (p.Ser125=) c.270C>T (p.Ser90=) c.354C>T (p.Ser118=) c.369C>T (p.Ser123=) n.2803C>T n.770C>T c.*236C>T (n.*236C>T) c.330C>T (p.Ser110=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.1759065G>C | CA379097649 | CTSD | c.375C>G (p.Ser125Arg) c.270C>G (p.Ser90Arg) c.354C>G (p.Ser118Arg) c.369C>G (p.Ser123Arg) n.2803C>G n.770C>G c.*236C>G (n.*236C>G) c.330C>G (p.Ser110Arg) | gnomAD v4 |
| 11 | g.1759065G= | CA1947834062 | CTSD | c.375C= (p.Ser125=) c.270C= (p.Ser90=) c.354C= (p.Ser118=) c.369C= (p.Ser123=) n.2803C= n.770C= c.*236C= (n.*236C=) c.330C= (p.Ser110=) | |
| 11 | g.1759065G>T | CA379097651 | CTSD | c.375C>A (p.Ser125Arg) c.270C>A (p.Ser90Arg) c.354C>A (p.Ser118Arg) c.369C>A (p.Ser123Arg) n.2803C>A n.770C>A c.*236C>A (n.*236C>A) c.330C>A (p.Ser110Arg) | |
| 11 | g.1759066C>A | CA379097653 | CTSD | c.374G>T (p.Ser125Ile) c.269G>T (p.Ser90Ile) c.353G>T (p.Ser118Ile) c.368G>T (p.Ser123Ile) n.2802G>T n.769G>T c.*235G>T (n.*235G>T) c.329G>T (p.Ser110Ile) | |
| 11 | g.1759066C>G | CA379097655 | CTSD | c.374G>C (p.Ser125Thr) c.269G>C (p.Ser90Thr) c.353G>C (p.Ser118Thr) c.368G>C (p.Ser123Thr) n.2802G>C n.769G>C c.*235G>C (n.*235G>C) c.329G>C (p.Ser110Thr) | |
| 11 | g.1759066C>T | CA379097658 | CTSD | c.374G>A (p.Ser125Asn) c.269G>A (p.Ser90Asn) c.353G>A (p.Ser118Asn) c.368G>A (p.Ser123Asn) n.2802G>A n.769G>A c.*235G>A (n.*235G>A) c.329G>A (p.Ser110Asn) | |
| 11 | g.1759067T>A | CA379097661 | CTSD | c.373A>T (p.Ser125Cys) c.268A>T (p.Ser90Cys) c.352A>T (p.Ser118Cys) c.367A>T (p.Ser123Cys) n.2801A>T n.768A>T c.*234A>T (n.*234A>T) c.328A>T (p.Ser110Cys) | |
| 11 | g.1759067T>C | CA5814189 | CTSD | c.373A>G (p.Ser125Gly) c.268A>G (p.Ser90Gly) c.352A>G (p.Ser118Gly) c.367A>G (p.Ser123Gly) n.2801A>G n.768A>G c.*234A>G (n.*234A>G) c.328A>G (p.Ser110Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.1759067T>G | CA379097665 | CTSD | c.373A>C (p.Ser125Arg) c.268A>C (p.Ser90Arg) c.352A>C (p.Ser118Arg) c.367A>C (p.Ser123Arg) n.2801A>C n.768A>C c.*234A>C (n.*234A>C) c.328A>C (p.Ser110Arg) | |
| 11 | g.1759067T= | CA1947834066 | CTSD | c.373A= (p.Ser125=) c.268A= (p.Ser90=) c.352A= (p.Ser118=) c.367A= (p.Ser123=) n.2801A= n.768A= c.*234A= (n.*234A=) c.328A= (p.Ser110=) | |
| 11 | g.1759068G>A | CA471987643 | CTSD | c.372C>T (p.Asn124=) c.267C>T (p.Asn89=) c.351C>T (p.Asn117=) c.366C>T (p.Asn122=) n.2800C>T n.767C>T c.*233C>T (n.*233C>T) c.327C>T (p.Asn109=) | |
| 11 | g.1759068G>C | CA379097667 | CTSD | c.372C>G (p.Asn124Lys) c.267C>G (p.Asn89Lys) c.351C>G (p.Asn117Lys) c.366C>G (p.Asn122Lys) n.2800C>G n.767C>G c.*233C>G (n.*233C>G) c.327C>G (p.Asn109Lys) | |
| 11 | g.1759068G>T | CA379097669 | CTSD | c.372C>A (p.Asn124Lys) c.267C>A (p.Asn89Lys) c.351C>A (p.Asn117Lys) c.366C>A (p.Asn122Lys) n.2800C>A n.767C>A c.*233C>A (n.*233C>A) c.327C>A (p.Asn109Lys) | |
| 11 | g.1759069T>A | CA379097671 | CTSD | c.371A>T (p.Asn124Ile) c.266A>T (p.Asn89Ile) c.350A>T (p.Asn117Ile) c.365A>T (p.Asn122Ile) n.2799A>T n.766A>T c.*232A>T (n.*232A>T) c.326A>T (p.Asn109Ile) | |
| 11 | g.1759069T>C | CA5814190 | CTSD | c.371A>G (p.Asn124Ser) c.266A>G (p.Asn89Ser) c.350A>G (p.Asn117Ser) c.365A>G (p.Asn122Ser) n.2799A>G n.766A>G c.*232A>G (n.*232A>G) c.326A>G (p.Asn109Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.1759069T>G | CA379097675 | CTSD | c.371A>C (p.Asn124Thr) c.266A>C (p.Asn89Thr) c.350A>C (p.Asn117Thr) c.365A>C (p.Asn122Thr) n.2799A>C n.766A>C c.*232A>C (n.*232A>C) c.326A>C (p.Asn109Thr) | |
| 11 | g.1759069T= | CA1947834069 | CTSD | c.371A= (p.Asn124=) c.266A= (p.Asn89=) c.350A= (p.Asn117=) c.365A= (p.Asn122=) n.2799A= n.766A= c.*232A= (n.*232A=) c.326A= (p.Asn109=) | |
| 11 | g.1759070T>A | CA379097682 | CTSD | c.370A>T (p.Asn124Tyr) c.265A>T (p.Asn89Tyr) c.349A>T (p.Asn117Tyr) c.364A>T (p.Asn122Tyr) n.2798A>T n.765A>T c.*231A>T (n.*231A>T) c.325A>T (p.Asn109Tyr) | |
| 11 | g.1759070T>C | CA379097679 | CTSD | c.370A>G (p.Asn124Asp) c.265A>G (p.Asn89Asp) c.349A>G (p.Asn117Asp) c.364A>G (p.Asn122Asp) n.2798A>G n.765A>G c.*231A>G (n.*231A>G) c.325A>G (p.Asn109Asp) | ClinVar dbSNP gnomAD v4 |
| 11 | g.1759070T>G | CA379097677 | CTSD | c.370A>C (p.Asn124His) c.265A>C (p.Asn89His) c.349A>C (p.Asn117His) c.364A>C (p.Asn122His) n.2798A>C n.765A>C c.*231A>C (n.*231A>C) c.325A>C (p.Asn109His) | |
| 11 | g.1759070T= | CA1947834075 | CTSD | c.370A= (p.Asn124=) c.265A= (p.Asn89=) c.349A= (p.Asn117=) c.364A= (p.Asn122=) n.2798A= n.765A= c.*231A= (n.*231A=) c.325A= (p.Asn109=) | |
| 11 | g.1759071G>A | CA471987656 | CTSD | c.369C>T (p.Tyr123=) c.264C>T (p.Tyr88=) c.348C>T (p.Tyr116=) c.363C>T (p.Tyr121=) n.2797C>T n.764C>T c.*230C>T (n.*230C>T) c.324C>T (p.Tyr108=) | ClinVar |
| 11 | g.1759071G>C | CA379097684 | CTSD | c.369C>G (p.Tyr123Ter) c.264C>G (p.Tyr88Ter) c.348C>G (p.Tyr116Ter) c.363C>G (p.Tyr121Ter) n.2797C>G n.764C>G c.*230C>G (n.*230C>G) c.324C>G (p.Tyr108Ter) | gnomAD v4 |
| 11 | g.1759071G>T | CA379097685 | CTSD | c.369C>A (p.Tyr123Ter) c.264C>A (p.Tyr88Ter) c.348C>A (p.Tyr116Ter) c.363C>A (p.Tyr121Ter) n.2797C>A n.764C>A c.*230C>A (n.*230C>A) c.324C>A (p.Tyr108Ter) | |
| 11 | g.1759072T>A | CA379097689 | CTSD | c.368A>T (p.Tyr123Phe) c.263A>T (p.Tyr88Phe) c.347A>T (p.Tyr116Phe) c.362A>T (p.Tyr121Phe) n.2796A>T n.763A>T c.*229A>T (n.*229A>T) c.323A>T (p.Tyr108Phe) | |
| 11 | g.1759072T>C | CA379097690 | CTSD | c.368A>G (p.Tyr123Cys) c.263A>G (p.Tyr88Cys) c.347A>G (p.Tyr116Cys) c.362A>G (p.Tyr121Cys) n.2796A>G n.763A>G c.*229A>G (n.*229A>G) c.323A>G (p.Tyr108Cys) | |
| 11 | g.1759072T>G | CA379097692 | CTSD | c.368A>C (p.Tyr123Ser) c.263A>C (p.Tyr88Ser) c.347A>C (p.Tyr116Ser) c.362A>C (p.Tyr121Ser) n.2796A>C n.763A>C c.*229A>C (n.*229A>C) c.323A>C (p.Tyr108Ser) | |
| 11 | g.1759073A>C | CA379097694 | CTSD | c.367T>G (p.Tyr123Asp) c.262T>G (p.Tyr88Asp) c.346T>G (p.Tyr116Asp) c.361T>G (p.Tyr121Asp) n.2795T>G n.762T>G c.*228T>G (n.*228T>G) c.322T>G (p.Tyr108Asp) | |
| 11 | g.1759073A>G | CA379097695 | CTSD | c.367T>C (p.Tyr123His) c.262T>C (p.Tyr88His) c.346T>C (p.Tyr116His) c.361T>C (p.Tyr121His) n.2795T>C n.762T>C c.*228T>C (n.*228T>C) c.322T>C (p.Tyr108His) | |
| 11 | g.1759073A>T | CA379097697 | CTSD | c.367T>A (p.Tyr123Asn) c.262T>A (p.Tyr88Asn) c.346T>A (p.Tyr116Asn) c.361T>A (p.Tyr121Asn) n.2795T>A n.762T>A c.*228T>A (n.*228T>A) c.322T>A (p.Tyr108Asn) | |
| 11 | g.1759074C>A | CA379097700 | CTSD | c.366G>T (p.Lys122Asn) c.261G>T (p.Lys87Asn) c.345G>T (p.Lys115Asn) c.360G>T (p.Lys120Asn) n.2794G>T n.761G>T c.*227G>T (n.*227G>T) c.321G>T (p.Lys107Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.1759074C= | CA1947834079 | CTSD | c.366G= (p.Lys122=) c.261G= (p.Lys87=) c.345G= (p.Lys115=) c.360G= (p.Lys120=) n.2794G= n.761G= c.*227G= (n.*227G=) c.321G= (p.Lys107=) | |
| 11 | g.1759074C>G | CA379097702 | CTSD | c.366G>C (p.Lys122Asn) c.261G>C (p.Lys87Asn) c.345G>C (p.Lys115Asn) c.360G>C (p.Lys120Asn) n.2794G>C n.761G>C c.*227G>C (n.*227G>C) c.321G>C (p.Lys107Asn) | |
| 11 | g.1759074C>T | CA5814191 | CTSD | c.366G>A (p.Lys122=) c.261G>A (p.Lys87=) c.345G>A (p.Lys115=) c.360G>A (p.Lys120=) n.2794G>A n.761G>A c.*227G>A (n.*227G>A) c.321G>A (p.Lys107=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1759075T>A | CA379097706 | CTSD | c.365A>T (p.Lys122Met) c.260A>T (p.Lys87Met) c.344A>T (p.Lys115Met) c.359A>T (p.Lys120Met) n.2793A>T n.760A>T c.*226A>T (n.*226A>T) c.320A>T (p.Lys107Met) | |
| 11 | g.1759075T>C | CA379097709 | CTSD | c.365A>G (p.Lys122Arg) c.260A>G (p.Lys87Arg) c.344A>G (p.Lys115Arg) c.359A>G (p.Lys120Arg) n.2793A>G n.760A>G c.*226A>G (n.*226A>G) c.320A>G (p.Lys107Arg) | |
| 11 | g.1759075T>G | CA379097711 | CTSD | c.365A>C (p.Lys122Thr) c.260A>C (p.Lys87Thr) c.344A>C (p.Lys115Thr) c.359A>C (p.Lys120Thr) n.2793A>C n.760A>C c.*226A>C (n.*226A>C) c.320A>C (p.Lys107Thr) |