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 |
|---|---|---|---|---|---|
| X | g.50086463T>A | CA413185296 | CLCN5 | c.1150T>A (p.Trp384Arg) c.400T>A (p.Trp134Arg) c.940T>A (p.Trp314Arg) c.1437T>A c.*325T>A (n.*325T>A) c.1000T>A (p.Trp334Arg) c.1162T>A (p.Trp388Arg) | |
| X | g.50086463T>C | CA413185297 | CLCN5 | c.1150T>C (p.Trp384Arg) c.400T>C (p.Trp134Arg) c.940T>C (p.Trp314Arg) c.1437T>C c.*325T>C (n.*325T>C) c.1000T>C (p.Trp334Arg) c.1162T>C (p.Trp388Arg) | ClinVar |
| X | g.50086463T>G | CA413185298 | CLCN5 | c.1150T>G (p.Trp384Gly) c.400T>G (p.Trp134Gly) c.940T>G (p.Trp314Gly) c.1437T>G c.*325T>G (n.*325T>G) c.1000T>G (p.Trp334Gly) c.1162T>G (p.Trp388Gly) | |
| X | g.50086464G>A | CA413185301 | CLCN5 | c.1151G>A (p.Trp384Ter) c.401G>A (p.Trp134Ter) c.941G>A (p.Trp314Ter) c.1438G>A c.*326G>A (n.*326G>A) c.1001G>A (p.Trp334Ter) c.1163G>A (p.Trp388Ter) | |
| X | g.50086464G>C | CA413185300 | CLCN5 | c.1151G>C (p.Trp384Ser) c.401G>C (p.Trp134Ser) c.941G>C (p.Trp314Ser) c.1438G>C c.*326G>C (n.*326G>C) c.1001G>C (p.Trp334Ser) c.1163G>C (p.Trp388Ser) | |
| X | g.50086464G>T | CA413185299 | CLCN5 | c.1151G>T (p.Trp384Leu) c.401G>T (p.Trp134Leu) c.941G>T (p.Trp314Leu) c.1438G>T c.*326G>T (n.*326G>T) c.1001G>T (p.Trp334Leu) c.1163G>T (p.Trp388Leu) | |
| X | g.50086465G>A | CA10413843 | CLCN5 | c.1152G>A (p.Trp384Ter) c.402G>A (p.Trp134Ter) c.942G>A (p.Trp314Ter) c.1439G>A c.*327G>A (n.*327G>A) c.1002G>A (p.Trp334Ter) c.1164G>A (p.Trp388Ter) | dbSNP ExAC gnomAD v2 |
| X | g.50086465G>C | CA413185302 | CLCN5 | c.1152G>C (p.Trp384Cys) c.402G>C (p.Trp134Cys) c.942G>C (p.Trp314Cys) c.1439G>C c.*327G>C (n.*327G>C) c.1002G>C (p.Trp334Cys) c.1164G>C (p.Trp388Cys) | |
| X | g.50086465G= | CA2428768876 | CLCN5 | c.1152G= (p.Trp384=) c.402G= (p.Trp134=) c.942G= (p.Trp314=) c.1439G= c.*327G= (n.*327G=) c.1002G= (p.Trp334=) c.1164G= (p.Trp388=) | |
| X | g.50086465G>T | CA413185303 | CLCN5 | c.1152G>T (p.Trp384Cys) c.402G>T (p.Trp134Cys) c.942G>T (p.Trp314Cys) c.1439G>T c.*327G>T (n.*327G>T) c.1002G>T (p.Trp334Cys) c.1164G>T (p.Trp388Cys) | |
| X | g.50086466C>A | CA413185304 | CLCN5 | c.1153C>A (p.His385Asn) c.403C>A (p.His135Asn) c.943C>A (p.His315Asn) c.1440C>A c.*328C>A (n.*328C>A) c.1003C>A (p.His335Asn) c.1165C>A (p.His389Asn) | |
| X | g.50086466C>G | CA413185305 | CLCN5 | c.1153C>G (p.His385Asp) c.403C>G (p.His135Asp) c.943C>G (p.His315Asp) c.1440C>G c.*328C>G (n.*328C>G) c.1003C>G (p.His335Asp) c.1165C>G (p.His389Asp) | |
| X | g.50086466C>T | CA413185306 | CLCN5 | c.1153C>T (p.His385Tyr) c.403C>T (p.His135Tyr) c.943C>T (p.His315Tyr) c.1440C>T c.*328C>T (n.*328C>T) c.1003C>T (p.His335Tyr) c.1165C>T (p.His389Tyr) | |
| X | g.50086467A= | CA2428768877 | CLCN5 | c.1154A= (p.His385=) c.404A= (p.His135=) c.944A= (p.His315=) c.1441A= c.*329A= (n.*329A=) c.1004A= (p.His335=) c.1166A= (p.His389=) | |
| X | g.50086467A>C | CA413185307 | CLCN5 | c.1154A>C (p.His385Pro) c.404A>C (p.His135Pro) c.944A>C (p.His315Pro) c.1441A>C c.*329A>C (n.*329A>C) c.1004A>C (p.His335Pro) c.1166A>C (p.His389Pro) | |
| X | g.50086467A>G | CA413185309 | CLCN5 | c.1154A>G (p.His385Arg) c.404A>G (p.His135Arg) c.944A>G (p.His315Arg) c.1441A>G c.*329A>G (n.*329A>G) c.1004A>G (p.His335Arg) c.1166A>G (p.His389Arg) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.50086467A>T | CA413185308 | CLCN5 | c.1154A>T (p.His385Leu) c.404A>T (p.His135Leu) c.944A>T (p.His315Leu) c.1441A>T c.*329A>T (n.*329A>T) c.1004A>T (p.His335Leu) c.1166A>T (p.His389Leu) | gnomAD v4 |
| X | g.50086468T>A | CA413185310 | CLCN5 | c.1155T>A (p.His385Gln) c.405T>A (p.His135Gln) c.945T>A (p.His315Gln) c.1442T>A c.*330T>A (n.*330T>A) c.1005T>A (p.His335Gln) c.1167T>A (p.His389Gln) | |
| X | g.50086468T>C | CA516678283 | CLCN5 | c.1155T>C (p.His385=) c.405T>C (p.His135=) c.945T>C (p.His315=) c.1442T>C c.*330T>C (n.*330T>C) c.1005T>C (p.His335=) c.1167T>C (p.His389=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50086468T>G | CA413185311 | CLCN5 | c.1155T>G (p.His385Gln) c.405T>G (p.His135Gln) c.945T>G (p.His315Gln) c.1442T>G c.*330T>G (n.*330T>G) c.1005T>G (p.His335Gln) c.1167T>G (p.His389Gln) | |
| X | g.50086468T= | CA2428768878 | CLCN5 | c.1155T= (p.His385=) c.405T= (p.His135=) c.945T= (p.His315=) c.1442T= c.*330T= (n.*330T=) c.1005T= (p.His335=) c.1167T= (p.His389=) | |
| X | g.50086469C>A | CA413185312 | CLCN5 | c.1156C>A (p.Leu386Ile) c.406C>A (p.Leu136Ile) c.946C>A (p.Leu316Ile) c.1443C>A c.*331C>A (n.*331C>A) c.1006C>A (p.Leu336Ile) c.1168C>A (p.Leu390Ile) | |
| X | g.50086469C>G | CA413185313 | CLCN5 | c.1156C>G (p.Leu386Val) c.406C>G (p.Leu136Val) c.946C>G (p.Leu316Val) c.1443C>G c.*331C>G (n.*331C>G) c.1006C>G (p.Leu336Val) c.1168C>G (p.Leu390Val) | gnomAD v4 |
| X | g.50086469C>T | CA413185314 | CLCN5 | c.1156C>T (p.Leu386Phe) c.406C>T (p.Leu136Phe) c.946C>T (p.Leu316Phe) c.1443C>T c.*331C>T (n.*331C>T) c.1006C>T (p.Leu336Phe) c.1168C>T (p.Leu390Phe) | |
| X | g.50086470T>A | CA413185315 | CLCN5 | c.1157T>A (p.Leu386His) c.407T>A (p.Leu136His) c.947T>A (p.Leu316His) c.1444T>A c.*332T>A (n.*332T>A) c.1007T>A (p.Leu336His) c.1169T>A (p.Leu390His) | |
| X | g.50086470T>C | CA413185316 | CLCN5 | c.1157T>C (p.Leu386Pro) c.407T>C (p.Leu136Pro) c.947T>C (p.Leu316Pro) c.1444T>C c.*332T>C (n.*332T>C) c.1007T>C (p.Leu336Pro) c.1169T>C (p.Leu390Pro) | |
| X | g.50086470T>G | CA413185317 | CLCN5 | c.1157T>G (p.Leu386Arg) c.407T>G (p.Leu136Arg) c.947T>G (p.Leu316Arg) c.1444T>G c.*332T>G (n.*332T>G) c.1007T>G (p.Leu336Arg) c.1169T>G (p.Leu390Arg) | |
| X | g.50086471C>A | CA516678290 | CLCN5 | c.1158C>A (p.Leu386=) c.408C>A (p.Leu136=) c.948C>A (p.Leu316=) c.1445C>A c.*333C>A (n.*333C>A) c.1008C>A (p.Leu336=) c.1170C>A (p.Leu390=) | |
| X | g.50086471C>G | CA516678291 | CLCN5 | c.1158C>G (p.Leu386=) c.408C>G (p.Leu136=) c.948C>G (p.Leu316=) c.1445C>G c.*333C>G (n.*333C>G) c.1008C>G (p.Leu336=) c.1170C>G (p.Leu390=) | |
| X | g.50086471C>T | CA516678293 | CLCN5 | c.1158C>T (p.Leu386=) c.408C>T (p.Leu136=) c.948C>T (p.Leu316=) c.1445C>T c.*333C>T (n.*333C>T) c.1008C>T (p.Leu336=) c.1170C>T (p.Leu390=) | |
| X | g.50086472T>A | CA413185318 | CLCN5 | c.1159T>A (p.Phe387Ile) c.409T>A (p.Phe137Ile) c.949T>A (p.Phe317Ile) c.1446T>A c.*334T>A (n.*334T>A) c.1009T>A (p.Phe337Ile) c.1171T>A (p.Phe391Ile) | |
| X | g.50086472T>C | CA413185319 | CLCN5 | c.1159T>C (p.Phe387Leu) c.409T>C (p.Phe137Leu) c.949T>C (p.Phe317Leu) c.1446T>C c.*334T>C (n.*334T>C) c.1009T>C (p.Phe337Leu) c.1171T>C (p.Phe391Leu) | |
| X | g.50086472T>G | CA413185320 | CLCN5 | c.1159T>G (p.Phe387Val) c.409T>G (p.Phe137Val) c.949T>G (p.Phe317Val) c.1446T>G c.*334T>G (n.*334T>G) c.1009T>G (p.Phe337Val) c.1171T>G (p.Phe391Val) | |
| X | g.50086473T>A | CA413185321 | CLCN5 | c.1160T>A (p.Phe387Tyr) c.410T>A (p.Phe137Tyr) c.950T>A (p.Phe317Tyr) c.1447T>A c.*335T>A (n.*335T>A) c.1010T>A (p.Phe337Tyr) c.1172T>A (p.Phe391Tyr) | |
| X | g.50086473T>C | CA413185323 | CLCN5 | c.1160T>C (p.Phe387Ser) c.410T>C (p.Phe137Ser) c.950T>C (p.Phe317Ser) c.1447T>C c.*335T>C (n.*335T>C) c.1010T>C (p.Phe337Ser) c.1172T>C (p.Phe391Ser) | |
| X | g.50086473T>G | CA413185322 | CLCN5 | c.1160T>G (p.Phe387Cys) c.410T>G (p.Phe137Cys) c.950T>G (p.Phe317Cys) c.1447T>G c.*335T>G (n.*335T>G) c.1010T>G (p.Phe337Cys) c.1172T>G (p.Phe391Cys) | |
| X | g.50086474T>A | CA413185324 | CLCN5 | c.1161T>A (p.Phe387Leu) c.411T>A (p.Phe137Leu) c.951T>A (p.Phe317Leu) c.1448T>A c.*336T>A (n.*336T>A) c.1011T>A (p.Phe337Leu) c.1173T>A (p.Phe391Leu) | gnomAD v4 |
| X | g.50086474T>C | CA516678298 | CLCN5 | c.1161T>C (p.Phe387=) c.411T>C (p.Phe137=) c.951T>C (p.Phe317=) c.1448T>C c.*336T>C (n.*336T>C) c.1011T>C (p.Phe337=) c.1173T>C (p.Phe391=) | |
| X | g.50086474T>G | CA413185325 | CLCN5 | c.1161T>G (p.Phe387Leu) c.411T>G (p.Phe137Leu) c.951T>G (p.Phe317Leu) c.1448T>G c.*336T>G (n.*336T>G) c.1011T>G (p.Phe337Leu) c.1173T>G (p.Phe391Leu) | |
| X | g.50086475G>A | CA413185326 | CLCN5 | c.1162G>A (p.Glu388Lys) c.412G>A (p.Glu138Lys) c.952G>A (p.Glu318Lys) c.1449G>A c.*337G>A (n.*337G>A) c.1012G>A (p.Glu338Lys) c.1174G>A (p.Glu392Lys) | ClinVar |
| X | g.50086475G>C | CA413185327 | CLCN5 | c.1162G>C (p.Glu388Gln) c.412G>C (p.Glu138Gln) c.952G>C (p.Glu318Gln) c.1449G>C c.*337G>C (n.*337G>C) c.1012G>C (p.Glu338Gln) c.1174G>C (p.Glu392Gln) | |
| X | g.50086475G>T | CA413185328 | CLCN5 | c.1162G>T (p.Glu388Ter) c.412G>T (p.Glu138Ter) c.952G>T (p.Glu318Ter) c.1449G>T c.*337G>T (n.*337G>T) c.1012G>T (p.Glu338Ter) c.1174G>T (p.Glu392Ter) | |
| X | g.50086476A>C | CA413185329 | CLCN5 | c.1163A>C (p.Glu388Ala) c.413A>C (p.Glu138Ala) c.953A>C (p.Glu318Ala) c.1450A>C c.*338A>C (n.*338A>C) c.1013A>C (p.Glu338Ala) c.1175A>C (p.Glu392Ala) | |
| X | g.50086476A>G | CA413185330 | CLCN5 | c.1163A>G (p.Glu388Gly) c.413A>G (p.Glu138Gly) c.953A>G (p.Glu318Gly) c.1450A>G c.*338A>G (n.*338A>G) c.1013A>G (p.Glu338Gly) c.1175A>G (p.Glu392Gly) | |
| X | g.50086476A>T | CA413185331 | CLCN5 | c.1163A>T (p.Glu388Val) c.413A>T (p.Glu138Val) c.953A>T (p.Glu318Val) c.1450A>T c.*338A>T (n.*338A>T) c.1013A>T (p.Glu338Val) c.1175A>T (p.Glu392Val) | |
| X | g.50086477G>A | CA516678309 | CLCN5 | c.1164G>A (p.Glu388=) c.414G>A (p.Glu138=) c.954G>A (p.Glu318=) c.1451G>A c.*339G>A (n.*339G>A) c.1014G>A (p.Glu338=) c.1176G>A (p.Glu392=) | dbSNP gnomAD v4 |
| X | g.50086477G>C | CA413185332 | CLCN5 | c.1164G>C (p.Glu388Asp) c.414G>C (p.Glu138Asp) c.954G>C (p.Glu318Asp) c.1451G>C c.*339G>C (n.*339G>C) c.1014G>C (p.Glu338Asp) c.1176G>C (p.Glu392Asp) | |
| X | g.50086477G= | CA2428768879 | CLCN5 | c.1164G= (p.Glu388=) c.414G= (p.Glu138=) c.954G= (p.Glu318=) c.1451G= c.*339G= (n.*339G=) c.1014G= (p.Glu338=) c.1176G= (p.Glu392=) | |
| X | g.50086477G>T | CA413185333 | CLCN5 | c.1164G>T (p.Glu388Asp) c.414G>T (p.Glu138Asp) c.954G>T (p.Glu318Asp) c.1451G>T c.*339G>T (n.*339G>T) c.1014G>T (p.Glu338Asp) c.1176G>T (p.Glu392Asp) | COSMIC COSMIC |
| X | g.50086478C>A | CA413185334 | CLCN5 | c.1165C>A (p.Leu389Ile) c.415C>A (p.Leu139Ile) c.955C>A (p.Leu319Ile) c.1452C>A c.*340C>A (n.*340C>A) c.1015C>A (p.Leu339Ile) c.1177C>A (p.Leu393Ile) |