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 |
|---|---|---|---|---|---|
| 6 | g.136898142_136898241del | CA2695207084 | PEX7 | c.804_903del c.*69_*168del c.492_591del c.690_789del c.684_783del c.510_609del c.527_*26del | |
| 6 | g.136898198_136898199del | CA2580615783 | PEX7 | c.860_861del (p.Glu287ValfsTer17) c.*125_*126del (n.*125_*126del) c.548_549del c.746_747del (p.Glu249ValfsTer17) c.740_741del (p.Glu247ValfsTer17) c.566_567del (p.Glu189ValfsTer17) c.583_584del (p.Ser195PhefsTer?) | ClinVar dbSNP |
| 6 | g.136898196_136898205del | CA570576432 | PEX7 | c.858_867del (p.Glu287ValfsTer3) c.*123_*132del (n.*123_*132del) c.546_555del c.744_753del (p.Glu249ValfsTer3) c.738_747del (p.Glu247ValfsTer3) c.564_573del (p.Glu189ValfsTer3) c.581_590del (p.Gln194LeufsTer?) c.581_590del (p.Gln194LeufsTer15) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136898198A>C | CA365766705 | PEX7 | c.860A>C (p.Glu287Ala) c.*125A>C (n.*125A>C) c.548A>C c.746A>C (p.Glu249Ala) c.740A>C (p.Glu247Ala) c.566A>C (p.Glu189Ala) c.583A>C (p.Ser195Arg) | |
| 6 | g.136898198A>G | CA365766708 | PEX7 | c.860A>G (p.Glu287Gly) c.*125A>G (n.*125A>G) c.548A>G c.746A>G (p.Glu249Gly) c.740A>G (p.Glu247Gly) c.566A>G (p.Glu189Gly) c.583A>G (p.Ser195Gly) | |
| 6 | g.136898198A>T | CA365766706 | PEX7 | c.860A>T (p.Glu287Val) c.*125A>T (n.*125A>T) c.548A>T c.746A>T (p.Glu249Val) c.740A>T (p.Glu247Val) c.566A>T (p.Glu189Val) c.583A>T (p.Ser195Cys) | |
| 6 | g.136898199G>A | CA452231806 | PEX7 | c.861G>A (p.Glu287=) c.*126G>A (n.*126G>A) c.549G>A c.747G>A (p.Glu249=) c.741G>A (p.Glu247=) c.567G>A (p.Glu189=) c.584G>A (p.Ser195Asn) | ClinVar gnomAD v4 |
| 6 | g.136898199G>C | CA365766710 | PEX7 | c.861G>C (p.Glu287Asp) c.*126G>C (n.*126G>C) c.549G>C c.747G>C (p.Glu249Asp) c.741G>C (p.Glu247Asp) c.567G>C (p.Glu189Asp) c.584G>C (p.Ser195Thr) | |
| 6 | g.136898199G>T | CA365766711 | PEX7 | c.861G>T (p.Glu287Asp) c.*126G>T (n.*126G>T) c.549G>T c.747G>T (p.Glu249Asp) c.741G>T (p.Glu247Asp) c.567G>T (p.Glu189Asp) c.584G>T (p.Ser195Ile) | |
| 6 | g.136898200T>A | CA365766713 | PEX7 | c.862T>A (p.Phe288Ile) c.*127T>A (n.*127T>A) c.550T>A c.748T>A (p.Phe250Ile) c.742T>A (p.Phe248Ile) c.568T>A (p.Phe190Ile) c.585T>A (p.Ser195Arg) | |
| 6 | g.136898200T>C | CA365766715 | PEX7 | c.862T>C (p.Phe288Leu) c.*127T>C (n.*127T>C) c.550T>C c.748T>C (p.Phe250Leu) c.742T>C (p.Phe248Leu) c.568T>C (p.Phe190Leu) c.585T>C (p.Ser195=) | |
| 6 | g.136898200T>G | CA365766716 | PEX7 | c.862T>G (p.Phe288Val) c.*127T>G (n.*127T>G) c.550T>G c.748T>G (p.Phe250Val) c.742T>G (p.Phe248Val) c.568T>G (p.Phe190Val) c.585T>G (p.Ser195Arg) | |
| 6 | g.136898202del | CA2695207086 | PEX7 | c.864del (p.Phe288LeufsTer5) c.*129del (n.*129del) c.552del c.750del (p.Phe250LeufsTer5) c.744del (p.Phe248LeufsTer5) c.570del (p.Phe190LeufsTer5) c.587del (p.Leu196TyrfsTer?) c.587del (p.Leu196TyrfsTer16) | |
| 6 | g.136898201T>A | CA365766718 | PEX7 | c.863T>A (p.Phe288Tyr) c.*128T>A (n.*128T>A) c.551T>A c.749T>A (p.Phe250Tyr) c.743T>A (p.Phe248Tyr) c.569T>A (p.Phe190Tyr) c.586T>A (p.Leu196Ile) | |
| 6 | g.136898201T>C | CA365766719 | PEX7 | c.863T>C (p.Phe288Ser) c.*128T>C (n.*128T>C) c.551T>C c.749T>C (p.Phe250Ser) c.743T>C (p.Phe248Ser) c.569T>C (p.Phe190Ser) c.586T>C (p.Leu196=) | |
| 6 | g.136898201T>G | CA365766721 | PEX7 | c.863T>G (p.Phe288Cys) c.*128T>G (n.*128T>G) c.551T>G c.749T>G (p.Phe250Cys) c.743T>G (p.Phe248Cys) c.569T>G (p.Phe190Cys) c.586T>G (p.Leu196Val) | |
| 6 | g.136898202T>A | CA365766723 | PEX7 | c.864T>A (p.Phe288Leu) c.*129T>A (n.*129T>A) c.552T>A c.750T>A (p.Phe250Leu) c.744T>A (p.Phe248Leu) c.570T>A (p.Phe190Leu) c.587T>A (p.Leu196Ter) | |
| 6 | g.136898202T>C | CA452231807 | PEX7 | c.864T>C (p.Phe288=) c.*129T>C (n.*129T>C) c.552T>C c.750T>C (p.Phe250=) c.744T>C (p.Phe248=) c.570T>C (p.Phe190=) c.587T>C (p.Leu196Ser) | |
| 6 | g.136898202T>G | CA365766725 | PEX7 | c.864T>G (p.Phe288Leu) c.*129T>G (n.*129T>G) c.552T>G c.750T>G (p.Phe250Leu) c.744T>G (p.Phe248Leu) c.570T>G (p.Phe190Leu) c.587T>G (p.Leu196Ter) | |
| 6 | g.136898203A>C | CA365766727 | PEX7 | c.865A>C (p.Thr289Pro) c.*130A>C (n.*130A>C) c.553A>C c.751A>C (p.Thr251Pro) c.745A>C (p.Thr249Pro) c.571A>C (p.Thr191Pro) c.588A>C (p.Leu196Phe) | |
| 6 | g.136898203A>G | CA365766730 | PEX7 | c.865A>G (p.Thr289Ala) c.*130A>G (n.*130A>G) c.553A>G c.751A>G (p.Thr251Ala) c.745A>G (p.Thr249Ala) c.571A>G (p.Thr191Ala) c.588A>G (p.Leu196=) | gnomAD v4 |
| 6 | g.136898203A>T | CA365766729 | PEX7 | c.865A>T (p.Thr289Ser) c.*130A>T (n.*130A>T) c.553A>T c.751A>T (p.Thr251Ser) c.745A>T (p.Thr249Ser) c.571A>T (p.Thr191Ser) c.588A>T (p.Leu196Phe) | |
| 6 | g.136898204C>A | CA365766731 | PEX7 | c.866C>A (p.Thr289Asn) c.*131C>A (n.*131C>A) c.554C>A c.752C>A (p.Thr251Asn) c.746C>A (p.Thr249Asn) c.572C>A (p.Thr191Asn) c.589C>A (p.Leu197Ile) | |
| 6 | g.136898204C>G | CA365766735 | PEX7 | c.866C>G (p.Thr289Ser) c.*131C>G (n.*131C>G) c.554C>G c.752C>G (p.Thr251Ser) c.746C>G (p.Thr249Ser) c.572C>G (p.Thr191Ser) c.589C>G (p.Leu197Val) | |
| 6 | g.136898204C>T | CA365766733 | PEX7 | c.866C>T (p.Thr289Ile) c.*131C>T (n.*131C>T) c.554C>T c.752C>T (p.Thr251Ile) c.746C>T (p.Thr249Ile) c.572C>T (p.Thr191Ile) c.589C>T (p.Leu197Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136898205T>A | CA452231808 | PEX7 | c.867T>A (p.Thr289=) c.*132T>A (n.*132T>A) c.555T>A c.753T>A (p.Thr251=) c.747T>A (p.Thr249=) c.573T>A (p.Thr191=) c.590T>A (p.Leu197His) | |
| 6 | g.136898205T>C | CA148218739 | PEX7 | c.867T>C (p.Thr289=) c.*132T>C (n.*132T>C) c.555T>C c.753T>C (p.Thr251=) c.747T>C (p.Thr249=) c.573T>C (p.Thr191=) c.590T>C (p.Leu197Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136898205T>G | CA452231809 | PEX7 | c.867T>G (p.Thr289=) c.*132T>G (n.*132T>G) c.555T>G c.753T>G (p.Thr251=) c.747T>G (p.Thr249=) c.573T>G (p.Thr191=) c.590T>G (p.Leu197Arg) | |
| 6 | g.136898206T>A | CA365766736 | PEX7 | c.868T>A (p.Cys290Ser) c.*133T>A (n.*133T>A) c.556T>A c.754T>A (p.Cys252Ser) c.748T>A (p.Cys250Ser) c.574T>A (p.Cys192Ser) c.591T>A (p.Leu197=) | |
| 6 | g.136898206T>C | CA365766738 | PEX7 | c.868T>C (p.Cys290Arg) c.*133T>C (n.*133T>C) c.556T>C c.754T>C (p.Cys252Arg) c.748T>C (p.Cys250Arg) c.574T>C (p.Cys192Arg) c.591T>C (p.Leu197=) | |
| 6 | g.136898206T>G | CA365766739 | PEX7 | c.868T>G (p.Cys290Gly) c.*133T>G (n.*133T>G) c.556T>G c.754T>G (p.Cys252Gly) c.748T>G (p.Cys250Gly) c.574T>G (p.Cys192Gly) c.591T>G (p.Leu197=) | gnomAD v4 |
| 6 | g.136898207_136898211del | CA913109574 | PEX7 | c.869_873del (p.Cys290PhefsTer13) c.*134_*138del (n.*134_*138del) c.557_561del c.755_759del (p.Cys252PhefsTer13) c.749_753del (p.Cys250PhefsTer13) c.575_579del (p.Cys192PhefsTer13) c.592_596del (p.Val198LeufsTer?) | |
| 6 | g.136898207G>A | CA365766741 | PEX7 | c.869G>A (p.Cys290Tyr) c.*134G>A (n.*134G>A) c.557G>A c.755G>A (p.Cys252Tyr) c.749G>A (p.Cys250Tyr) c.575G>A (p.Cys192Tyr) c.592G>A (p.Val198Met) | dbSNP gnomAD v2 |
| 6 | g.136898207G>C | CA365766743 | PEX7 | c.869G>C (p.Cys290Ser) c.*134G>C (n.*134G>C) c.557G>C c.755G>C (p.Cys252Ser) c.749G>C (p.Cys250Ser) c.575G>C (p.Cys192Ser) c.592G>C (p.Val198Leu) | |
| 6 | g.136898207G>T | CA365766745 | PEX7 | c.869G>T (p.Cys290Phe) c.*134G>T (n.*134G>T) c.557G>T c.755G>T (p.Cys252Phe) c.749G>T (p.Cys250Phe) c.575G>T (p.Cys192Phe) c.592G>T (p.Val198Leu) | |
| 6 | g.136898208T>A | CA365766746 | PEX7 | c.870T>A (p.Cys290Ter) c.*135T>A (n.*135T>A) c.558T>A c.756T>A (p.Cys252Ter) c.750T>A (p.Cys250Ter) c.576T>A (p.Cys192Ter) c.593T>A (p.Val198Glu) | |
| 6 | g.136898208T>C | CA452231810 | PEX7 | c.870T>C (p.Cys290=) c.*135T>C (n.*135T>C) c.558T>C c.756T>C (p.Cys252=) c.750T>C (p.Cys250=) c.576T>C (p.Cys192=) c.593T>C (p.Val198Ala) | ClinVar gnomAD v4 |
| 6 | g.136898208T>G | CA365766748 | PEX7 | c.870T>G (p.Cys290Trp) c.*135T>G (n.*135T>G) c.558T>G c.756T>G (p.Cys252Trp) c.750T>G (p.Cys250Trp) c.576T>G (p.Cys192Trp) c.593T>G (p.Val198Gly) | |
| 6 | g.136898209_136898212del | CA658823310 | PEX7 | c.871_874del (p.Gly291Ter) c.*136_*139del (n.*136_*139del) c.559_562del c.757_760del (p.Gly253Ter) c.751_754del (p.Gly251Ter) c.577_580del (p.Gly193Ter) c.594_597del (p.Val199ArgfsTer?) c.594_597del (p.Val199ArgfsTer12) | ClinVar dbSNP gnomAD v4 |
| 6 | g.136898208_136898209insCAA | CA148218743 | PEX7 | c.870_871insCAA (p.Cys290_Gly291insGln) c.*135_*136insCAA (n.*135_*136insCAA) c.558_559insCAA c.756_757insCAA (p.Cys252_Gly253insGln) c.750_751insCAA (p.Cys250_Gly251insGln) c.576_577insCAA (p.Cys192_Gly193insGln) c.593_594insCAA (p.Val198_Val199insLys) | ClinVar dbSNP |
| 6 | g.136898209G>A | CA365766750 | PEX7 | c.871G>A (p.Gly291Ser) c.*136G>A (n.*136G>A) c.559G>A c.757G>A (p.Gly253Ser) c.751G>A (p.Gly251Ser) c.577G>A (p.Gly193Ser) c.594G>A (p.Val198=) | |
| 6 | g.136898209G>C | CA365766752 | PEX7 | c.871G>C (p.Gly291Arg) c.*136G>C (n.*136G>C) c.559G>C c.757G>C (p.Gly253Arg) c.751G>C (p.Gly251Arg) c.577G>C (p.Gly193Arg) c.594G>C (p.Val198=) | |
| 6 | g.136898209G>T | CA365766754 | PEX7 | c.871G>T (p.Gly291Cys) c.*136G>T (n.*136G>T) c.559G>T c.757G>T (p.Gly253Cys) c.751G>T (p.Gly251Cys) c.577G>T (p.Gly193Cys) c.594G>T (p.Val198=) | |
| 6 | g.136898210G>A | CA365766759 | PEX7 | c.872G>A (p.Gly291Asp) c.*137G>A (n.*137G>A) c.560G>A c.758G>A (p.Gly253Asp) c.752G>A (p.Gly251Asp) c.578G>A (p.Gly193Asp) c.595G>A (p.Val199Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.136898210G>C | CA365766756 | PEX7 | c.872G>C (p.Gly291Ala) c.*137G>C (n.*137G>C) c.560G>C c.758G>C (p.Gly253Ala) c.752G>C (p.Gly251Ala) c.578G>C (p.Gly193Ala) c.595G>C (p.Val199Leu) | |
| 6 | g.136898210G>T | CA365766757 | PEX7 | c.872G>T (p.Gly291Val) c.*137G>T (n.*137G>T) c.560G>T c.758G>T (p.Gly253Val) c.752G>T (p.Gly251Val) c.578G>T (p.Gly193Val) c.595G>T (p.Val199Phe) | |
| 6 | g.136898211T>A | CA452231811 | PEX7 | c.873T>A (p.Gly291=) c.*138T>A (n.*138T>A) c.561T>A c.759T>A (p.Gly253=) c.753T>A (p.Gly251=) c.579T>A (p.Gly193=) c.596T>A (p.Val199Asp) | |
| 6 | g.136898211T>C | CA452231813 | PEX7 | c.873T>C (p.Gly291=) c.*138T>C (n.*138T>C) c.561T>C c.759T>C (p.Gly253=) c.753T>C (p.Gly251=) c.579T>C (p.Gly193=) c.596T>C (p.Val199Ala) | |
| 6 | g.136898211T>G | CA452231812 | PEX7 | c.873T>G (p.Gly291=) c.*138T>G (n.*138T>G) c.561T>G c.759T>G (p.Gly253=) c.753T>G (p.Gly251=) c.579T>G (p.Gly193=) c.596T>G (p.Val199Gly) | |
| 6 | g.136898213del | CA2680490257 | PEX7 | c.875del (p.Leu292Ter) c.*140del (n.*140del) c.563del c.761del (p.Leu254Ter) c.755del (p.Leu252Ter) c.581del (p.Leu194Ter) c.598del (p.Ter200ArgextTer?) c.598del (p.Ter200ArgextTer12) | gnomAD v4 |