WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.7201738_7201751delinsTTACCCGTTCCAGG | CA2014444889 | PEX5 | c.552-13_552delinsTTACCCGTTCCAGG c.597-13_597delinsTTACCCGTTCCAGG c.615-13_615delinsTTACCCGTTCCAGG c.303-13_303delinsTTACCCGTTCCAGG c.452_465delinsTTACCCGTTCCAGG (p.Leu151=) n.233-13_233delinsTTACCCGTTCCAGG n.367-13_367delinsTTACCCGTTCCAGG c.516-13_516delinsTTACCCGTTCCAGG c.660-13_660delinsTTACCCGTTCCAGG c.996-13_996delinsTTACCCGTTCCAGG n.1038-13_1038delinsTTACCCGTTCCAGG | |
| 12 | g.7201741_7201753del | CA2014444890 | PEX5 | c.552-10_554del c.597-10_599del c.615-10_617del c.303-10_305del c.455_467del (p.Thr152MetfsTer?) n.233-10_235del n.367-10_369del c.516-10_518del c.660-10_662del c.996-10_998del n.1038-10_1040del | dbSNP |
| 12 | g.7201741_7201753delinsCCCGTTCCAGGTA | CA2014444893 | PEX5 | c.552-10_554delinsCCCGTTCCAGGTA c.597-10_599delinsCCCGTTCCAGGTA c.615-10_617delinsCCCGTTCCAGGTA c.303-10_305delinsCCCGTTCCAGGTA c.455_467delinsCCCGTTCCAGGTA (p.Thr152=) n.233-10_235delinsCCCGTTCCAGGTA n.367-10_369delinsCCCGTTCCAGGTA c.516-10_518delinsCCCGTTCCAGGTA c.660-10_662delinsCCCGTTCCAGGTA c.996-10_998delinsCCCGTTCCAGGTA n.1038-10_1040delinsCCCGTTCCAGGTA | |
| 12 | g.7201742_7201753del | CA944414659 | PEX5 | c.552-9_554del c.597-9_599del c.615-9_617del c.303-9_305del c.456_467del (p.Arg153_Tyr156del) n.233-9_235del n.367-9_369del c.516-9_518del c.660-9_662del c.996-9_998del n.1038-9_1040del | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.7201750G>A | CA16619587 | PEX5 | c.552-1G>A (n.552-1G>A) c.597-1G>A (n.597-1G>A) c.615-1G>A (n.615-1G>A) c.303-1G>A (n.303-1G>A) c.464G>A (p.Arg155Lys) n.233-1G>A n.367-1G>A c.516-1G>A (n.516-1G>A) c.660-1G>A (n.660-1G>A) c.996-1G>A (n.996-1G>A) n.1038-1G>A | ClinVar dbSNP |
| 12 | g.7201750G>C | CA383721036 | PEX5 | c.552-1G>C (n.552-1G>C) c.597-1G>C (n.597-1G>C) c.615-1G>C (n.615-1G>C) c.303-1G>C (n.303-1G>C) c.464G>C (p.Arg155Thr) n.233-1G>C n.367-1G>C c.516-1G>C (n.516-1G>C) c.660-1G>C (n.660-1G>C) c.996-1G>C (n.996-1G>C) n.1038-1G>C | |
| 12 | g.7201750G= | CA2014444901 | PEX5 | c.552-1G= (n.552-1G=) c.597-1G= (n.597-1G=) c.615-1G= (n.615-1G=) c.303-1G= (n.303-1G=) c.464G= (p.Arg155=) n.233-1G= n.367-1G= c.516-1G= (n.516-1G=) c.660-1G= (n.660-1G=) c.996-1G= (n.996-1G=) n.1038-1G= | |
| 12 | g.7201750G>T | CA383721034 | PEX5 | c.552-1G>T (n.552-1G>T) c.597-1G>T (n.597-1G>T) c.615-1G>T (n.615-1G>T) c.303-1G>T (n.303-1G>T) c.464G>T (p.Arg155Met) n.233-1G>T n.367-1G>T c.516-1G>T (n.516-1G>T) c.660-1G>T (n.660-1G>T) c.996-1G>T (n.996-1G>T) n.1038-1G>T | |
| 12 | g.7201751G>A | CA383721040 | PEX5 | c.552G>A (p.Trp184Ter) c.597G>A (p.Trp199Ter) c.615G>A (p.Trp205Ter) c.303G>A (p.Trp101Ter) c.465G>A (p.Arg155=) n.233G>A n.367G>A c.516G>A (p.Trp172Ter) c.660G>A (p.Trp220Ter) c.996G>A (p.Trp332Ter) n.1038G>A | ClinVar dbSNP gnomAD v4 |
| 12 | g.7201751G>C | CA383721047 | PEX5 | c.552G>C (p.Trp184Cys) c.597G>C (p.Trp199Cys) c.615G>C (p.Trp205Cys) c.303G>C (p.Trp101Cys) c.465G>C (p.Arg155Ser) n.233G>C n.367G>C c.516G>C (p.Trp172Cys) c.660G>C (p.Trp220Cys) c.996G>C (p.Trp332Cys) n.1038G>C | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.7201751G= | CA2014444902 | PEX5 | c.552G= (p.Trp184=) c.597G= (p.Trp199=) c.615G= (p.Trp205=) c.303G= (p.Trp101=) c.465G= (p.Arg155=) n.233G= n.367G= c.516G= (p.Trp172=) c.660G= (p.Trp220=) c.996G= (p.Trp332=) n.1038G= | |
| 12 | g.7201751G>T | CA383721051 | PEX5 | c.552G>T (p.Trp184Cys) c.597G>T (p.Trp199Cys) c.615G>T (p.Trp205Cys) c.303G>T (p.Trp101Cys) c.465G>T (p.Arg155Ser) n.233G>T n.367G>T c.516G>T (p.Trp172Cys) c.660G>T (p.Trp220Cys) c.996G>T (p.Trp332Cys) n.1038G>T | |
| 12 | g.7201752T>A | CA383721066 | PEX5 | c.553T>A (p.Tyr185Asn) c.598T>A (p.Tyr200Asn) c.616T>A (p.Tyr206Asn) c.304T>A (p.Tyr102Asn) c.466T>A (p.Tyr156Asn) n.234T>A n.368T>A c.517T>A (p.Tyr173Asn) c.661T>A (p.Tyr221Asn) c.997T>A (p.Tyr333Asn) n.1039T>A | gnomAD v4 |
| 12 | g.7201752T>C | CA383721067 | PEX5 | c.553T>C (p.Tyr185His) c.598T>C (p.Tyr200His) c.616T>C (p.Tyr206His) c.304T>C (p.Tyr102His) c.466T>C (p.Tyr156His) n.234T>C n.368T>C c.517T>C (p.Tyr173His) c.661T>C (p.Tyr221His) c.997T>C (p.Tyr333His) n.1039T>C | |
| 12 | g.7201752T>G | CA383721068 | PEX5 | c.553T>G (p.Tyr185Asp) c.598T>G (p.Tyr200Asp) c.616T>G (p.Tyr206Asp) c.304T>G (p.Tyr102Asp) c.466T>G (p.Tyr156Asp) n.234T>G n.368T>G c.517T>G (p.Tyr173Asp) c.661T>G (p.Tyr221Asp) c.997T>G (p.Tyr333Asp) n.1039T>G | |
| 12 | g.7201753A= | CA2014444903 | PEX5 | c.554A= (p.Tyr185=) c.599A= (p.Tyr200=) c.617A= (p.Tyr206=) c.305A= (p.Tyr102=) c.467A= (p.Tyr156=) n.235A= n.369A= c.518A= (p.Tyr173=) c.662A= (p.Tyr221=) c.998A= (p.Tyr333=) n.1040A= | |
| 12 | g.7201753A>C | CA383721073 | PEX5 | c.554A>C (p.Tyr185Ser) c.599A>C (p.Tyr200Ser) c.617A>C (p.Tyr206Ser) c.305A>C (p.Tyr102Ser) c.467A>C (p.Tyr156Ser) n.235A>C n.369A>C c.518A>C (p.Tyr173Ser) c.662A>C (p.Tyr221Ser) c.998A>C (p.Tyr333Ser) n.1040A>C | dbSNP |
| 12 | g.7201753A>G | CA383721076 | PEX5 | c.554A>G (p.Tyr185Cys) c.599A>G (p.Tyr200Cys) c.617A>G (p.Tyr206Cys) c.305A>G (p.Tyr102Cys) c.467A>G (p.Tyr156Cys) n.235A>G n.369A>G c.518A>G (p.Tyr173Cys) c.662A>G (p.Tyr221Cys) c.998A>G (p.Tyr333Cys) n.1040A>G | |
| 12 | g.7201753A>T | CA383721107 | PEX5 | c.554A>T (p.Tyr185Phe) c.599A>T (p.Tyr200Phe) c.617A>T (p.Tyr206Phe) c.305A>T (p.Tyr102Phe) c.467A>T (p.Tyr156Phe) n.235A>T n.369A>T c.518A>T (p.Tyr173Phe) c.662A>T (p.Tyr221Phe) c.998A>T (p.Tyr333Phe) n.1040A>T | COSMIC COSMIC |
| 12 | g.7201754T>A | CA383721114 | PEX5 | c.555T>A (p.Tyr185Ter) c.600T>A (p.Tyr200Ter) c.618T>A (p.Tyr206Ter) c.306T>A (p.Tyr102Ter) c.468T>A (p.Tyr156Ter) n.236T>A n.370T>A c.519T>A (p.Tyr173Ter) c.663T>A (p.Tyr221Ter) c.999T>A (p.Tyr333Ter) n.1041T>A | ClinVar |
| 12 | g.7201754T>C | CA478185866 | PEX5 | c.555T>C (p.Tyr185=) c.600T>C (p.Tyr200=) c.618T>C (p.Tyr206=) c.306T>C (p.Tyr102=) c.468T>C (p.Tyr156=) n.236T>C n.370T>C c.519T>C (p.Tyr173=) c.663T>C (p.Tyr221=) c.999T>C (p.Tyr333=) n.1041T>C | gnomAD v4 |
| 12 | g.7201754T>G | CA383721120 | PEX5 | c.555T>G (p.Tyr185Ter) c.600T>G (p.Tyr200Ter) c.618T>G (p.Tyr206Ter) c.306T>G (p.Tyr102Ter) c.468T>G (p.Tyr156Ter) n.236T>G n.370T>G c.519T>G (p.Tyr173Ter) c.663T>G (p.Tyr221Ter) c.999T>G (p.Tyr333Ter) n.1041T>G | |
| 12 | g.7201755G>A | CA383721134 | PEX5 | c.556G>A (p.Asp186Asn) c.601G>A (p.Asp201Asn) c.619G>A (p.Asp207Asn) c.307G>A (p.Asp103Asn) c.469G>A (p.Asp157Asn) n.237G>A n.371G>A c.520G>A (p.Asp174Asn) c.664G>A (p.Asp222Asn) c.1000G>A (p.Asp334Asn) n.1042G>A | |
| 12 | g.7201755G>C | CA383721127 | PEX5 | c.556G>C (p.Asp186His) c.601G>C (p.Asp201His) c.619G>C (p.Asp207His) c.307G>C (p.Asp103His) c.469G>C (p.Asp157His) n.237G>C n.371G>C c.520G>C (p.Asp174His) c.664G>C (p.Asp222His) c.1000G>C (p.Asp334His) n.1042G>C | |
| 12 | g.7201755G>T | CA383721131 | PEX5 | c.556G>T (p.Asp186Tyr) c.601G>T (p.Asp201Tyr) c.619G>T (p.Asp207Tyr) c.307G>T (p.Asp103Tyr) c.469G>T (p.Asp157Tyr) n.237G>T n.371G>T c.520G>T (p.Asp174Tyr) c.664G>T (p.Asp222Tyr) c.1000G>T (p.Asp334Tyr) n.1042G>T | ClinVar |
| 12 | g.7201756A>C | CA383721141 | PEX5 | c.557A>C (p.Asp186Ala) c.602A>C (p.Asp201Ala) c.620A>C (p.Asp207Ala) c.308A>C (p.Asp103Ala) c.470A>C (p.Asp157Ala) n.238A>C n.372A>C c.521A>C (p.Asp174Ala) c.665A>C (p.Asp222Ala) c.1001A>C (p.Asp334Ala) n.1043A>C | |
| 12 | g.7201756A>G | CA383721146 | PEX5 | c.557A>G (p.Asp186Gly) c.602A>G (p.Asp201Gly) c.620A>G (p.Asp207Gly) c.308A>G (p.Asp103Gly) c.470A>G (p.Asp157Gly) n.238A>G n.372A>G c.521A>G (p.Asp174Gly) c.665A>G (p.Asp222Gly) c.1001A>G (p.Asp334Gly) n.1043A>G | |
| 12 | g.7201756A>T | CA383721150 | PEX5 | c.557A>T (p.Asp186Val) c.602A>T (p.Asp201Val) c.620A>T (p.Asp207Val) c.308A>T (p.Asp103Val) c.470A>T (p.Asp157Val) n.238A>T n.372A>T c.521A>T (p.Asp174Val) c.665A>T (p.Asp222Val) c.1001A>T (p.Asp334Val) n.1043A>T | |
| 12 | g.7201757T>A | CA232470851 | PEX5 | c.558T>A (p.Asp186Glu) c.603T>A (p.Asp201Glu) c.621T>A (p.Asp207Glu) c.309T>A (p.Asp103Glu) c.471T>A (p.Asp157Glu) n.239T>A n.373T>A c.522T>A (p.Asp174Glu) c.666T>A (p.Asp222Glu) c.1002T>A (p.Asp334Glu) n.1044T>A | dbSNP |
| 12 | g.7201757T>C | CA478185870 | PEX5 | c.558T>C (p.Asp186=) c.603T>C (p.Asp201=) c.621T>C (p.Asp207=) c.309T>C (p.Asp103=) c.471T>C (p.Asp157=) n.239T>C n.373T>C c.522T>C (p.Asp174=) c.666T>C (p.Asp222=) c.1002T>C (p.Asp334=) n.1044T>C | ClinVar dbSNP gnomAD v4 |
| 12 | g.7201757T>G | CA383721153 | PEX5 | c.558T>G (p.Asp186Glu) c.603T>G (p.Asp201Glu) c.621T>G (p.Asp207Glu) c.309T>G (p.Asp103Glu) c.471T>G (p.Asp157Glu) n.239T>G n.373T>G c.522T>G (p.Asp174Glu) c.666T>G (p.Asp222Glu) c.1002T>G (p.Asp334Glu) n.1044T>G | |
| 12 | g.7201757T= | CA2014444904 | PEX5 | c.558T= (p.Asp186=) c.603T= (p.Asp201=) c.621T= (p.Asp207=) c.309T= (p.Asp103=) c.471T= (p.Asp157=) n.239T= n.373T= c.522T= (p.Asp174=) c.666T= (p.Asp222=) c.1002T= (p.Asp334=) n.1044T= | |
| 12 | g.7201758G>A | CA383721157 | PEX5 | c.559G>A (p.Glu187Lys) c.604G>A (p.Glu202Lys) c.622G>A (p.Glu208Lys) c.310G>A (p.Glu104Lys) c.472G>A (p.Glu158Lys) n.240G>A n.374G>A c.523G>A (p.Glu175Lys) c.667G>A (p.Glu223Lys) c.1003G>A (p.Glu335Lys) n.1045G>A | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.7201758G>C | CA383721164 | PEX5 | c.559G>C (p.Glu187Gln) c.604G>C (p.Glu202Gln) c.622G>C (p.Glu208Gln) c.310G>C (p.Glu104Gln) c.472G>C (p.Glu158Gln) n.240G>C n.374G>C c.523G>C (p.Glu175Gln) c.667G>C (p.Glu223Gln) c.1003G>C (p.Glu335Gln) n.1045G>C | |
| 12 | g.7201758G= | CA2014444905 | PEX5 | c.559G= (p.Glu187=) c.604G= (p.Glu202=) c.622G= (p.Glu208=) c.310G= (p.Glu104=) c.472G= (p.Glu158=) n.240G= n.374G= c.523G= (p.Glu175=) c.667G= (p.Glu223=) c.1003G= (p.Glu335=) n.1045G= | |
| 12 | g.7201758G>T | CA383721168 | PEX5 | c.559G>T (p.Glu187Ter) c.604G>T (p.Glu202Ter) c.622G>T (p.Glu208Ter) c.310G>T (p.Glu104Ter) c.472G>T (p.Glu158Ter) n.240G>T n.374G>T c.523G>T (p.Glu175Ter) c.667G>T (p.Glu223Ter) c.1003G>T (p.Glu335Ter) n.1045G>T | |
| 12 | g.7201759A>C | CA383721174 | PEX5 | c.560A>C (p.Glu187Ala) c.605A>C (p.Glu202Ala) c.623A>C (p.Glu208Ala) c.311A>C (p.Glu104Ala) c.473A>C (p.Glu158Ala) n.241A>C n.375A>C c.524A>C (p.Glu175Ala) c.668A>C (p.Glu223Ala) c.1004A>C (p.Glu335Ala) n.1046A>C | |
| 12 | g.7201759A>G | CA383721176 | PEX5 | c.560A>G (p.Glu187Gly) c.605A>G (p.Glu202Gly) c.623A>G (p.Glu208Gly) c.311A>G (p.Glu104Gly) c.473A>G (p.Glu158Gly) n.241A>G n.375A>G c.524A>G (p.Glu175Gly) c.668A>G (p.Glu223Gly) c.1004A>G (p.Glu335Gly) n.1046A>G | |
| 12 | g.7201759A>T | CA383721179 | PEX5 | c.560A>T (p.Glu187Val) c.605A>T (p.Glu202Val) c.623A>T (p.Glu208Val) c.311A>T (p.Glu104Val) c.473A>T (p.Glu158Val) n.241A>T n.375A>T c.524A>T (p.Glu175Val) c.668A>T (p.Glu223Val) c.1004A>T (p.Glu335Val) n.1046A>T | |
| 12 | g.7201760A= | CA2014444906 | PEX5 | c.561A= (p.Glu187=) c.606A= (p.Glu202=) c.624A= (p.Glu208=) c.312A= (p.Glu104=) c.474A= (p.Glu158=) n.242A= n.376A= c.525A= (p.Glu175=) c.669A= (p.Glu223=) c.1005A= (p.Glu335=) n.1047A= | |
| 12 | g.7201760A>C | CA383721189 | PEX5 | c.561A>C (p.Glu187Asp) c.606A>C (p.Glu202Asp) c.624A>C (p.Glu208Asp) c.312A>C (p.Glu104Asp) c.474A>C (p.Glu158Asp) n.242A>C n.376A>C c.525A>C (p.Glu175Asp) c.669A>C (p.Glu223Asp) c.1005A>C (p.Glu335Asp) n.1047A>C | gnomAD v4 |
| 12 | g.7201760A>G | CA478185874 | PEX5 | c.561A>G (p.Glu187=) c.606A>G (p.Glu202=) c.624A>G (p.Glu208=) c.312A>G (p.Glu104=) c.474A>G (p.Glu158=) n.242A>G n.376A>G c.525A>G (p.Glu175=) c.669A>G (p.Glu223=) c.1005A>G (p.Glu335=) n.1047A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.7201760A>T | CA383721183 | PEX5 | c.561A>T (p.Glu187Asp) c.606A>T (p.Glu202Asp) c.624A>T (p.Glu208Asp) c.312A>T (p.Glu104Asp) c.474A>T (p.Glu158Asp) n.242A>T n.376A>T c.525A>T (p.Glu175Asp) c.669A>T (p.Glu223Asp) c.1005A>T (p.Glu335Asp) n.1047A>T | |
| 12 | g.7201761T>A | CA383721194 | PEX5 | c.562T>A (p.Tyr188Asn) c.607T>A (p.Tyr203Asn) c.625T>A (p.Tyr209Asn) c.313T>A (p.Tyr105Asn) c.475T>A (p.Tyr159Asn) n.243T>A n.377T>A c.526T>A (p.Tyr176Asn) c.670T>A (p.Tyr224Asn) c.1006T>A (p.Tyr336Asn) n.1048T>A | |
| 12 | g.7201761T>C | CA383721198 | PEX5 | c.562T>C (p.Tyr188His) c.607T>C (p.Tyr203His) c.625T>C (p.Tyr209His) c.313T>C (p.Tyr105His) c.475T>C (p.Tyr159His) n.243T>C n.377T>C c.526T>C (p.Tyr176His) c.670T>C (p.Tyr224His) c.1006T>C (p.Tyr336His) n.1048T>C | |
| 12 | g.7201761T>G | CA383721201 | PEX5 | c.562T>G (p.Tyr188Asp) c.607T>G (p.Tyr203Asp) c.625T>G (p.Tyr209Asp) c.313T>G (p.Tyr105Asp) c.475T>G (p.Tyr159Asp) n.243T>G n.377T>G c.526T>G (p.Tyr176Asp) c.670T>G (p.Tyr224Asp) c.1006T>G (p.Tyr336Asp) n.1048T>G | |
| 12 | g.7201762A>C | CA383721209 | PEX5 | c.563A>C (p.Tyr188Ser) c.608A>C (p.Tyr203Ser) c.626A>C (p.Tyr209Ser) c.314A>C (p.Tyr105Ser) c.476A>C (p.Tyr159Ser) n.244A>C n.378A>C c.527A>C (p.Tyr176Ser) c.671A>C (p.Tyr224Ser) c.1007A>C (p.Tyr336Ser) n.1049A>C | |
| 12 | g.7201762A>G | CA383721213 | PEX5 | c.563A>G (p.Tyr188Cys) c.608A>G (p.Tyr203Cys) c.626A>G (p.Tyr209Cys) c.314A>G (p.Tyr105Cys) c.476A>G (p.Tyr159Cys) n.244A>G n.378A>G c.527A>G (p.Tyr176Cys) c.671A>G (p.Tyr224Cys) c.1007A>G (p.Tyr336Cys) n.1049A>G | |
| 12 | g.7201762A>T | CA383721216 | PEX5 | c.563A>T (p.Tyr188Phe) c.608A>T (p.Tyr203Phe) c.626A>T (p.Tyr209Phe) c.314A>T (p.Tyr105Phe) c.476A>T (p.Tyr159Phe) n.244A>T n.378A>T c.527A>T (p.Tyr176Phe) c.671A>T (p.Tyr224Phe) c.1007A>T (p.Tyr336Phe) n.1049A>T | |
| 12 | g.7201763T>A | CA383721221 | PEX5 | c.564T>A (p.Tyr188Ter) c.609T>A (p.Tyr203Ter) c.627T>A (p.Tyr209Ter) c.315T>A (p.Tyr105Ter) c.477T>A (p.Tyr159Ter) n.245T>A n.379T>A c.528T>A (p.Tyr176Ter) c.672T>A (p.Tyr224Ter) c.1008T>A (p.Tyr336Ter) n.1050T>A |