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 |
|---|---|---|---|---|---|
| 1 | g.146018289_146018308dup | CA2647575248 | HJV | c.1050_1069dup (p.Tyr357CysfsTer17) c.372_391dup (p.Tyr131CysfsTer17) c.711_730dup (p.Tyr244CysfsTer17) | gnomAD v4 |
| 1 | g.146018294T>A | CA342133276 | HJV | c.1064A>T (p.Asp355Val) c.386A>T (p.Asp129Val) c.725A>T (p.Asp242Val) | dbSNP |
| 1 | g.146018294T>C | CA342133280 | HJV | c.1064A>G (p.Asp355Gly) c.386A>G (p.Asp129Gly) c.725A>G (p.Asp242Gly) | |
| 1 | g.146018294T>G | CA342133282 | HJV | c.1064A>C (p.Asp355Ala) c.386A>C (p.Asp129Ala) c.725A>C (p.Asp242Ala) | gnomAD v4 |
| 1 | g.146018294T= | CA1198820908 | HJV | c.1064A= (p.Asp355=) c.386A= (p.Asp129=) c.725A= (p.Asp242=) | |
| 1 | g.146018295C>A | CA1053957 | HJV | c.1063G>T (p.Asp355Tyr) c.385G>T (p.Asp129Tyr) c.724G>T (p.Asp242Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.146018295C= | CA1198820909 | HJV | c.1063G= (p.Asp355=) c.385G= (p.Asp129=) c.724G= (p.Asp242=) | |
| 1 | g.146018295C>G | CA29823257 | HJV | c.1063G>C (p.Asp355His) c.385G>C (p.Asp129His) c.724G>C (p.Asp242His) | |
| 1 | g.146018295C>T | CA29823248 | HJV | c.1063G>A (p.Asp355Asn) c.385G>A (p.Asp129Asn) c.724G>A (p.Asp242Asn) | dbSNP gnomAD v2 |
| 1 | g.146018296T>A | CA342133291 | HJV | c.1062A>T (p.Glu354Asp) c.384A>T (p.Glu128Asp) c.723A>T (p.Glu241Asp) | |
| 1 | g.146018296T>C | CA420250248 | HJV | c.1062A>G (p.Glu354=) c.384A>G (p.Glu128=) c.723A>G (p.Glu241=) | |
| 1 | g.146018296T>G | CA342133292 | HJV | c.1062A>C (p.Glu354Asp) c.384A>C (p.Glu128Asp) c.723A>C (p.Glu241Asp) | |
| 1 | g.146018297T>A | CA342133293 | HJV | c.1061A>T (p.Glu354Val) c.383A>T (p.Glu128Val) c.722A>T (p.Glu241Val) | |
| 1 | g.146018297T>C | CA342133300 | HJV | c.1061A>G (p.Glu354Gly) c.383A>G (p.Glu128Gly) c.722A>G (p.Glu241Gly) | |
| 1 | g.146018297T>G | CA342133295 | HJV | c.1061A>C (p.Glu354Ala) c.383A>C (p.Glu128Ala) c.722A>C (p.Glu241Ala) | |
| 1 | g.146018298C>A | CA342133303 | HJV | c.1060G>T (p.Glu354Ter) c.382G>T (p.Glu128Ter) c.721G>T (p.Glu241Ter) | |
| 1 | g.146018298C>G | CA342133311 | HJV | c.1060G>C (p.Glu354Gln) c.382G>C (p.Glu128Gln) c.721G>C (p.Glu241Gln) | |
| 1 | g.146018298C>T | CA342133309 | HJV | c.1060G>A (p.Glu354Lys) c.382G>A (p.Glu128Lys) c.721G>A (p.Glu241Lys) | |
| 1 | g.146018299C>A | CA420250251 | HJV | c.1059G>T (p.Val353=) c.381G>T (p.Val127=) c.720G>T (p.Val240=) | |
| 1 | g.146018299C>G | CA420250252 | HJV | c.1059G>C (p.Val353=) c.381G>C (p.Val127=) c.720G>C (p.Val240=) | |
| 1 | g.146018299C>T | CA420250250 | HJV | c.1059G>A (p.Val353=) c.381G>A (p.Val127=) c.720G>A (p.Val240=) | |
| 1 | g.146018300A>C | CA342133312 | HJV | c.1058T>G (p.Val353Gly) c.380T>G (p.Val127Gly) c.719T>G (p.Val240Gly) | |
| 1 | g.146018300A>G | CA342133314 | HJV | c.1058T>C (p.Val353Ala) c.380T>C (p.Val127Ala) c.719T>C (p.Val240Ala) | |
| 1 | g.146018300A>T | CA342133313 | HJV | c.1058T>A (p.Val353Glu) c.380T>A (p.Val127Glu) c.719T>A (p.Val240Glu) | |
| 1 | g.146018301C>A | CA342133320 | HJV | c.1057G>T (p.Val353Leu) c.379G>T (p.Val127Leu) c.718G>T (p.Val240Leu) | |
| 1 | g.146018301C>G | CA342133325 | HJV | c.1057G>C (p.Val353Leu) c.379G>C (p.Val127Leu) c.718G>C (p.Val240Leu) | |
| 1 | g.146018301C>T | CA342133328 | HJV | c.1057G>A (p.Val353Met) c.379G>A (p.Val127Met) c.718G>A (p.Val240Met) | |
| 1 | g.146018302T>A | CA420250256 | HJV | c.1056A>T (p.Pro352=) c.378A>T (p.Pro126=) c.717A>T (p.Pro239=) | |
| 1 | g.146018302T>C | CA420250255 | HJV | c.1056A>G (p.Pro352=) c.378A>G (p.Pro126=) c.717A>G (p.Pro239=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.146018302T>G | CA420250254 | HJV | c.1056A>C (p.Pro352=) c.378A>C (p.Pro126=) c.717A>C (p.Pro239=) | |
| 1 | g.146018302T= | CA1198820910 | HJV | c.1056A= (p.Pro352=) c.378A= (p.Pro126=) c.717A= (p.Pro239=) | |
| 1 | g.146018303G>A | CA1053956 | HJV | c.1055C>T (p.Pro352Leu) c.377C>T (p.Pro126Leu) c.716C>T (p.Pro239Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.146018303G>C | CA29823263 | HJV | c.1055C>G (p.Pro352Arg) c.377C>G (p.Pro126Arg) c.716C>G (p.Pro239Arg) | |
| 1 | g.146018303G= | CA1143670587 | HJV | c.1055C= (p.Pro352=) c.377C= (p.Pro126=) c.716C= (p.Pro239=) | |
| 1 | g.146018303G>T | CA29823270 | HJV | c.1055C>A (p.Pro352Gln) c.377C>A (p.Pro126Gln) c.716C>A (p.Pro239Gln) | |
| 1 | g.146018304G>A | CA342133346 | HJV | c.1054C>T (p.Pro352Ser) c.376C>T (p.Pro126Ser) c.715C>T (p.Pro239Ser) | |
| 1 | g.146018304G>C | CA342133348 | HJV | c.1054C>G (p.Pro352Ala) c.376C>G (p.Pro126Ala) c.715C>G (p.Pro239Ala) | |
| 1 | g.146018304G>T | CA342133351 | HJV | c.1054C>A (p.Pro352Thr) c.376C>A (p.Pro126Thr) c.715C>A (p.Pro239Thr) | |
| 1 | g.146018305A>C | CA420603226 | HJV | c.1053T>G (p.Leu351=) c.375T>G (p.Leu125=) c.714T>G (p.Leu238=) | |
| 1 | g.146018305A>G | CA420603225 | HJV | c.1053T>C (p.Leu351=) c.375T>C (p.Leu125=) c.714T>C (p.Leu238=) | gnomAD v4 |
| 1 | g.146018305A>T | CA420603227 | HJV | c.1053T>A (p.Leu351=) c.375T>A (p.Leu125=) c.714T>A (p.Leu238=) | |
| 1 | g.146018306A>C | CA342134070 | HJV | c.1052T>G (p.Leu351Arg) c.374T>G (p.Leu125Arg) c.713T>G (p.Leu238Arg) | |
| 1 | g.146018306A>G | CA342134064 | HJV | c.1052T>C (p.Leu351Pro) c.374T>C (p.Leu125Pro) c.713T>C (p.Leu238Pro) | |
| 1 | g.146018306A>T | CA342134062 | HJV | c.1052T>A (p.Leu351His) c.374T>A (p.Leu125His) c.713T>A (p.Leu238His) | |
| 1 | g.146018307G>A | CA1053955 | HJV | c.1051C>T (p.Leu351Phe) c.373C>T (p.Leu125Phe) c.712C>T (p.Leu238Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.146018307G>C | CA29823279 | HJV | c.1051C>G (p.Leu351Val) c.373C>G (p.Leu125Val) c.712C>G (p.Leu238Val) | |
| 1 | g.146018307G= | CA1148206201 | HJV | c.1051C= (p.Leu351=) c.373C= (p.Leu125=) c.712C= (p.Leu238=) | |
| 1 | g.146018307G>T | CA29823286 | HJV | c.1051C>A (p.Leu351Ile) c.373C>A (p.Leu125Ile) c.712C>A (p.Leu238Ile) | |
| 1 | g.146018308C>A | CA420603229 | HJV | c.1050G>T (p.Gly350=) c.372G>T (p.Gly124=) c.711G>T (p.Gly237=) | |
| 1 | g.146018308C>G | CA420603228 | HJV | c.1050G>C (p.Gly350=) c.372G>C (p.Gly124=) c.711G>C (p.Gly237=) |