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.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.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 |
| 6 | g.136898212T>A | CA365766761 | PEX7 | c.874T>A (p.Leu292Ile) c.*139T>A (n.*139T>A) c.562T>A c.760T>A (p.Leu254Ile) c.754T>A (p.Leu252Ile) c.580T>A (p.Leu194Ile) c.597T>A (p.Val199=) | |
| 6 | g.136898212T>C | CA452231814 | PEX7 | c.874T>C (p.Leu292=) c.*139T>C (n.*139T>C) c.562T>C c.760T>C (p.Leu254=) c.754T>C (p.Leu252=) c.580T>C (p.Leu194=) c.597T>C (p.Val199=) | |
| 6 | g.136898212T>G | CA365766763 | PEX7 | c.874T>G (p.Leu292Val) c.*139T>G (n.*139T>G) c.562T>G c.760T>G (p.Leu254Val) c.754T>G (p.Leu252Val) c.580T>G (p.Leu194Val) c.597T>G (p.Val199=) | |
| 6 | g.136898213T>A | CA340698 | PEX7 | c.875T>A (p.Leu292Ter) c.*140T>A (n.*140T>A) c.563T>A c.761T>A (p.Leu254Ter) c.755T>A (p.Leu252Ter) c.581T>A (p.Leu194Ter) c.598T>A (p.Ter200Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136898213T>C | CA365766765 | PEX7 | c.875T>C (p.Leu292Ser) c.*140T>C (n.*140T>C) c.563T>C c.761T>C (p.Leu254Ser) c.755T>C (p.Leu252Ser) c.581T>C (p.Leu194Ser) c.598T>C (p.Ter200Gln) | |
| 6 | g.136898213T>G | CA365766766 | PEX7 | c.875T>G (p.Leu292Ter) c.*140T>G (n.*140T>G) c.563T>G c.761T>G (p.Leu254Ter) c.755T>G (p.Leu252Ter) c.581T>G (p.Leu194Ter) c.598T>G (p.Ter200Glu) | |
| 6 | g.136898214A>C | CA365766768 | PEX7 | c.876A>C (p.Leu292Phe) c.*141A>C (n.*141A>C) c.564A>C c.762A>C (p.Leu254Phe) c.756A>C (p.Leu252Phe) c.582A>C (p.Leu194Phe) c.599A>C (p.Ter200Ser) | |
| 6 | g.136898214A>G | CA452231815 | PEX7 | c.876A>G (p.Leu292=) c.*141A>G (n.*141A>G) c.564A>G c.762A>G (p.Leu254=) c.756A>G (p.Leu252=) c.582A>G (p.Leu194=) c.599A>G (p.Ter200Trp) | ClinVar |
| 6 | g.136898214A>T | CA365766770 | PEX7 | c.876A>T (p.Leu292Phe) c.*141A>T (n.*141A>T) c.564A>T c.762A>T (p.Leu254Phe) c.756A>T (p.Leu252Phe) c.582A>T (p.Leu194Phe) c.599A>T (p.Ter200Leu) | |
| 6 | g.136898215G>A | CA365766772 | PEX7 | c.877G>A (p.Asp293Asn) c.*142G>A (n.*142G>A) c.565G>A c.763G>A (p.Asp255Asn) c.757G>A (p.Asp253Asn) c.583G>A (p.Asp195Asn) c.600G>A (p.Ter200=) | |
| 6 | g.136898215G>C | CA365766773 | PEX7 | c.877G>C (p.Asp293His) c.*142G>C (n.*142G>C) c.565G>C c.763G>C (p.Asp255His) c.757G>C (p.Asp253His) c.583G>C (p.Asp195His) c.600G>C (p.Ter200Tyr) | gnomAD v4 |
| 6 | g.136898215G>T | CA365766774 | PEX7 | c.877G>T (p.Asp293Tyr) c.*142G>T (n.*142G>T) c.565G>T c.763G>T (p.Asp255Tyr) c.757G>T (p.Asp253Tyr) c.583G>T (p.Asp195Tyr) c.600G>T (p.Ter200Tyr) | |
| 6 | g.136898216A>C | CA365766780 | PEX7 | c.878A>C (p.Asp293Ala) c.*143A>C (n.*143A>C) c.566A>C c.764A>C (p.Asp255Ala) c.758A>C (p.Asp253Ala) c.584A>C (p.Asp195Ala) c.*1A>C (n.*1A>C) | |
| 6 | g.136898216A>G | CA365766778 | PEX7 | c.878A>G (p.Asp293Gly) c.*143A>G (n.*143A>G) c.566A>G c.764A>G (p.Asp255Gly) c.758A>G (p.Asp253Gly) c.584A>G (p.Asp195Gly) c.*1A>G (n.*1A>G) | |
| 6 | g.136898216A>T | CA365766776 | PEX7 | c.878A>T (p.Asp293Val) c.*143A>T (n.*143A>T) c.566A>T c.764A>T (p.Asp255Val) c.758A>T (p.Asp253Val) c.584A>T (p.Asp195Val) c.*1A>T (n.*1A>T) | |
| 6 | g.136898217C>A | CA365766781 | PEX7 | c.879C>A (p.Asp293Glu) c.*144C>A (n.*144C>A) c.567C>A c.765C>A (p.Asp255Glu) c.759C>A (p.Asp253Glu) c.585C>A (p.Asp195Glu) c.*2C>A (n.*2C>A) | ClinVar gnomAD v4 |
| 6 | g.136898217C>G | CA365766782 | PEX7 | c.879C>G (p.Asp293Glu) c.*144C>G (n.*144C>G) c.567C>G c.765C>G (p.Asp255Glu) c.759C>G (p.Asp253Glu) c.585C>G (p.Asp195Glu) c.*2C>G (n.*2C>G) |