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 |
|---|---|---|---|---|---|
| 22 | g.50489812_50489815del | CA2819317778 | MIOX | c.814_817del (p.Gln272GlyfsTer11) c.800_803del (p.Pro267ArgfsTer14) c.683_686del (p.Pro228ArgfsTer14) c.754_757del (p.Gln252GlyfsTer11) c.676_679del (p.Gln226GlyfsTer11) n.3310_3313del | |
| 22 | g.50489813del | CA2819317779 | MIOX | c.815del (p.Gln272ArgfsTer12) c.801del (p.Ala269LeufsTer13) c.684del (p.Ala230LeufsTer13) c.755del (p.Gln252ArgfsTer12) c.677del (p.Gln226ArgfsTer12) n.3311del | |
| 22 | g.50489813A>C | CA412150477 | MIOX | c.815A>C (p.Gln272Pro) c.801A>C (p.Pro267=) c.684A>C (p.Pro228=) c.755A>C (p.Gln252Pro) c.677A>C (p.Gln226Pro) n.3311A>C | |
| 22 | g.50489813A>G | CA412150479 | MIOX | c.815A>G (p.Gln272Arg) c.801A>G (p.Pro267=) c.684A>G (p.Pro228=) c.755A>G (p.Gln252Arg) c.677A>G (p.Gln226Arg) n.3311A>G | gnomAD v4 |
| 22 | g.50489813A>T | CA412150481 | MIOX | c.815A>T (p.Gln272Leu) c.801A>T (p.Pro267=) c.684A>T (p.Pro228=) c.755A>T (p.Gln252Leu) c.677A>T (p.Gln226Leu) n.3311A>T | |
| 22 | g.50489814G>A | CA325521849 | MIOX | c.816G>A (p.Gln272=) c.802G>A (p.Gly268Arg) c.685G>A (p.Gly229Arg) c.756G>A (p.Gln252=) c.678G>A (p.Gln226=) n.3312G>A | dbSNP gnomAD v4 COSMIC COSMIC |
| 22 | g.50489814G>C | CA412150482 | MIOX | c.816G>C (p.Gln272His) c.802G>C (p.Gly268Arg) c.685G>C (p.Gly229Arg) c.756G>C (p.Gln252His) c.678G>C (p.Gln226His) n.3312G>C | |
| 22 | g.50489814G= | CA2410885344 | MIOX | c.816G= (p.Gln272=) c.802G= (p.Gly268=) c.685G= (p.Gly229=) c.756G= (p.Gln252=) c.678G= (p.Gln226=) n.3312G= | |
| 22 | g.50489814G>T | CA412150484 | MIOX | c.816G>T (p.Gln272His) c.802G>T (p.Gly268Trp) c.685G>T (p.Gly229Trp) c.756G>T (p.Gln252His) c.678G>T (p.Gln226His) n.3312G>T | |
| 22 | g.50489815G>A | CA412150485 | MIOX | c.817G>A (p.Gly273Arg) c.803G>A (p.Gly268Glu) c.686G>A (p.Gly229Glu) c.757G>A (p.Gly253Arg) c.679G>A (p.Gly227Arg) n.3313G>A | ClinVar dbSNP gnomAD v2 COSMIC COSMIC |
| 22 | g.50489815G>C | CA412150486 | MIOX | c.817G>C (p.Gly273Arg) c.803G>C (p.Gly268Ala) c.686G>C (p.Gly229Ala) c.757G>C (p.Gly253Arg) c.679G>C (p.Gly227Arg) n.3313G>C | |
| 22 | g.50489815G= | CA2410885345 | MIOX | c.817G= (p.Gly273=) c.803G= (p.Gly268=) c.686G= (p.Gly229=) c.757G= (p.Gly253=) c.679G= (p.Gly227=) n.3313G= | |
| 22 | g.50489815G>T | CA412150487 | MIOX | c.817G>T (p.Gly273Trp) c.803G>T (p.Gly268Val) c.686G>T (p.Gly229Val) c.757G>T (p.Gly253Trp) c.679G>T (p.Gly227Trp) n.3313G>T | gnomAD v4 |
| 22 | g.50489816G>A | CA412150494 | MIOX | c.818G>A (p.Gly273Glu) c.804G>A (p.Gly268=) c.687G>A (p.Gly229=) c.758G>A (p.Gly253Glu) c.680G>A (p.Gly227Glu) n.3314G>A | |
| 22 | g.50489816G>C | CA412150496 | MIOX | c.818G>C (p.Gly273Ala) c.804G>C (p.Gly268=) c.687G>C (p.Gly229=) c.758G>C (p.Gly253Ala) c.680G>C (p.Gly227Ala) n.3314G>C | |
| 22 | g.50489816G>T | CA412150497 | MIOX | c.818G>T (p.Gly273Val) c.804G>T (p.Gly268=) c.687G>T (p.Gly229=) c.758G>T (p.Gly253Val) c.680G>T (p.Gly227Val) n.3314G>T | |
| 22 | g.50489817G>A | CA10319002 | MIOX | c.819G>A (p.Gly273=) c.805G>A (p.Ala269Thr) c.688G>A (p.Ala230Thr) c.759G>A (p.Gly253=) c.681G>A (p.Gly227=) n.3315G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50489817G>C | CA412150510 | MIOX | c.819G>C (p.Gly273=) c.805G>C (p.Ala269Pro) c.688G>C (p.Ala230Pro) c.759G>C (p.Gly253=) c.681G>C (p.Gly227=) n.3315G>C | |
| 22 | g.50489817G= | CA2410885346 | MIOX | c.819G= (p.Gly273=) c.805G= (p.Ala269=) c.688G= (p.Ala230=) c.759G= (p.Gly253=) c.681G= (p.Gly227=) n.3315G= | |
| 22 | g.50489817G>T | CA412150507 | MIOX | c.819G>T (p.Gly273=) c.805G>T (p.Ala269Ser) c.688G>T (p.Ala230Ser) c.759G>T (p.Gly253=) c.681G>T (p.Gly227=) n.3315G>T | gnomAD v4 |
| 22 | g.50489818C>A | CA412150511 | MIOX | c.820C>A (p.Leu274Ile) c.806C>A (p.Ala269Asp) c.689C>A (p.Ala230Asp) c.760C>A (p.Leu254Ile) c.682C>A (p.Leu228Ile) n.3316C>A | |
| 22 | g.50489818C= | CA2410885347 | MIOX | c.820C= (p.Leu274=) c.806C= (p.Ala269=) c.689C= (p.Ala230=) c.760C= (p.Leu254=) c.682C= (p.Leu228=) n.3316C= | |
| 22 | g.50489818C>G | CA412150512 | MIOX | c.820C>G (p.Leu274Val) c.806C>G (p.Ala269Gly) c.689C>G (p.Ala230Gly) c.760C>G (p.Leu254Val) c.682C>G (p.Leu228Val) n.3316C>G | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50489818C>T | CA412150514 | MIOX | c.820C>T (p.Leu274Phe) c.806C>T (p.Ala269Val) c.689C>T (p.Ala230Val) c.760C>T (p.Leu254Phe) c.682C>T (p.Leu228Phe) n.3316C>T | |
| 22 | g.50489819T>A | CA412150517 | MIOX | c.821T>A (p.Leu274His) c.807T>A (p.Ala269=) c.690T>A (p.Ala230=) c.761T>A (p.Leu254His) c.683T>A (p.Leu228His) n.3317T>A | |
| 22 | g.50489819T>C | CA412150520 | MIOX | c.821T>C (p.Leu274Pro) c.807T>C (p.Ala269=) c.690T>C (p.Ala230=) c.761T>C (p.Leu254Pro) c.683T>C (p.Leu228Pro) n.3317T>C | |
| 22 | g.50489819T>G | CA412150521 | MIOX | c.821T>G (p.Leu274Arg) c.807T>G (p.Ala269=) c.690T>G (p.Ala230=) c.761T>G (p.Leu254Arg) c.683T>G (p.Leu228Arg) n.3317T>G | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50489819T= | CA2410885348 | MIOX | c.821T= (p.Leu274=) c.807T= (p.Ala269=) c.690T= (p.Ala230=) c.761T= (p.Leu254=) c.683T= (p.Leu228=) n.3317T= | |
| 22 | g.50489820C>A | CA10319003 | MIOX | c.822C>A (p.Leu274=) c.808C>A (p.His270Asn) c.691C>A (p.His231Asn) c.762C>A (p.Leu254=) c.684C>A (p.Leu228=) n.3318C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50489820C= | CA2410885349 | MIOX | c.822C= (p.Leu274=) c.808C= (p.His270=) c.691C= (p.His231=) c.762C= (p.Leu254=) c.684C= (p.Leu228=) n.3318C= | |
| 22 | g.50489820C>G | CA412150522 | MIOX | c.822C>G (p.Leu274=) c.808C>G (p.His270Asp) c.691C>G (p.His231Asp) c.762C>G (p.Leu254=) c.684C>G (p.Leu228=) n.3318C>G | |
| 22 | g.50489820C>T | CA325521872 | MIOX | c.822C>T (p.Leu274=) c.808C>T (p.His270Tyr) c.691C>T (p.His231Tyr) c.762C>T (p.Leu254=) c.684C>T (p.Leu228=) n.3318C>T | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50489821A>C | CA412150524 | MIOX | c.823A>C (p.Ile275Leu) c.809A>C (p.His270Pro) c.692A>C (p.His231Pro) c.763A>C (p.Ile255Leu) c.685A>C (p.Ile229Leu) n.3319A>C | |
| 22 | g.50489821A>G | CA412150527 | MIOX | c.823A>G (p.Ile275Val) c.809A>G (p.His270Arg) c.692A>G (p.His231Arg) c.763A>G (p.Ile255Val) c.685A>G (p.Ile229Val) n.3319A>G | |
| 22 | g.50489821A>T | CA412150532 | MIOX | c.823A>T (p.Ile275Phe) c.809A>T (p.His270Leu) c.692A>T (p.His231Leu) c.763A>T (p.Ile255Phe) c.685A>T (p.Ile229Phe) n.3319A>T | |
| 22 | g.50489822T>A | CA412150540 | MIOX | c.824T>A (p.Ile275Asn) c.810T>A (p.His270Gln) c.693T>A (p.His231Gln) c.764T>A (p.Ile255Asn) c.686T>A (p.Ile229Asn) n.3320T>A | |
| 22 | g.50489822T>C | CA412150539 | MIOX | c.824T>C (p.Ile275Thr) c.810T>C (p.His270=) c.693T>C (p.His231=) c.764T>C (p.Ile255Thr) c.686T>C (p.Ile229Thr) n.3320T>C | |
| 22 | g.50489822T>G | CA412150538 | MIOX | c.824T>G (p.Ile275Ser) c.810T>G (p.His270Gln) c.693T>G (p.His231Gln) c.764T>G (p.Ile255Ser) c.686T>G (p.Ile229Ser) n.3320T>G | |
| 22 | g.50489823T>A | CA412150541 | MIOX | c.825T>A (p.Ile275=) c.811T>A (p.Ter271Arg) c.694T>A (p.Ter232Arg) c.765T>A (p.Ile255=) c.687T>A (p.Ile229=) n.3321T>A | |
| 22 | g.50489823T>C | CA412150566 | MIOX | c.825T>C (p.Ile275=) c.811T>C (p.Ter271Arg) c.694T>C (p.Ter232Arg) c.765T>C (p.Ile255=) c.687T>C (p.Ile229=) n.3321T>C | |
| 22 | g.50489823T>G | CA412150551 | MIOX | c.825T>G (p.Ile275Met) c.811T>G (p.Ter271Gly) c.694T>G (p.Ter232Gly) c.765T>G (p.Ile255Met) c.687T>G (p.Ile229Met) n.3321T>G | |
| 22 | g.50489824G>A | CA412150568 | MIOX | c.826G>A (p.Asp276Asn) c.812G>A (p.Ter271=) c.695G>A (p.Ter232=) c.766G>A (p.Asp256Asn) c.688G>A (p.Asp230Asn) n.3322G>A | |
| 22 | g.50489824G>C | CA412150571 | MIOX | c.826G>C (p.Asp276His) c.812G>C (p.Ter271Ser) c.695G>C (p.Ter232Ser) c.766G>C (p.Asp256His) c.688G>C (p.Asp230His) n.3322G>C | |
| 22 | g.50489824G>T | CA412150569 | MIOX | c.826G>T (p.Asp276Tyr) c.812G>T (p.Ter271Leu) c.695G>T (p.Ter232Leu) c.766G>T (p.Asp256Tyr) c.688G>T (p.Asp230Tyr) n.3322G>T | gnomAD v4 |
| 22 | g.50489825A>C | CA412150574 | MIOX | c.827A>C (p.Asp276Ala) c.813A>C (p.Ter271Cys) c.696A>C (p.Ter232Cys) c.767A>C (p.Asp256Ala) c.689A>C (p.Asp230Ala) n.3323A>C | |
| 22 | g.50489825A>G | CA412150580 | MIOX | c.827A>G (p.Asp276Gly) c.813A>G (p.Ter271Trp) c.696A>G (p.Ter232Trp) c.767A>G (p.Asp256Gly) c.689A>G (p.Asp230Gly) n.3323A>G | |
| 22 | g.50489825A>T | CA412150578 | MIOX | c.827A>T (p.Asp276Val) c.813A>T (p.Ter271Cys) c.696A>T (p.Ter232Cys) c.767A>T (p.Asp256Val) c.689A>T (p.Asp230Val) n.3323A>T | |
| 22 | g.50489826C>A | CA412150583 | MIOX | c.828C>A (p.Asp276Glu) c.*1C>A (n.*1C>A) c.768C>A (p.Asp256Glu) c.690C>A (p.Asp230Glu) n.3324C>A | gnomAD v4 |
| 22 | g.50489826C= | CA2410885350 | MIOX | c.828C= (p.Asp276=) c.*1C= (n.*1C=) c.768C= (p.Asp256=) c.690C= (p.Asp230=) n.3324C= | |
| 22 | g.50489826C>G | CA412150586 | MIOX | c.828C>G (p.Asp276Glu) c.*1C>G (n.*1C>G) c.768C>G (p.Asp256Glu) c.690C>G (p.Asp230Glu) n.3324C>G |