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.136872210_136872214del | CA2680490725 | PEX7 | c.760_764del (p.His254PhefsTer9) c.*25_*29del (n.*25_*29del) c.448_452del c.646_650del (p.His216PhefsTer9) c.765_769del (n.765_769del) c.640_644del (p.His214PhefsTer9) c.466_470del (p.His156PhefsTer9) c.527-25932_527-25928del (n.527-25932_527-25928del) | gnomAD v4 |
| 6 | g.136872213G>A | CA365764417 | PEX7 | c.763G>A (p.Ala255Thr) c.*28G>A (n.*28G>A) c.451G>A c.649G>A (p.Ala217Thr) c.768G>A (n.768G>A) c.643G>A (p.Ala215Thr) c.469G>A (p.Ala157Thr) c.527-25929G>A (n.527-25929G>A) | gnomAD v4 |
| 6 | g.136872213G>C | CA365764418 | PEX7 | c.763G>C (p.Ala255Pro) c.*28G>C (n.*28G>C) c.451G>C c.649G>C (p.Ala217Pro) c.768G>C (n.768G>C) c.643G>C (p.Ala215Pro) c.469G>C (p.Ala157Pro) c.527-25929G>C (n.527-25929G>C) | |
| 6 | g.136872213G>T | CA365764419 | PEX7 | c.763G>T (p.Ala255Ser) c.*28G>T (n.*28G>T) c.451G>T c.649G>T (p.Ala217Ser) c.768G>T (n.768G>T) c.643G>T (p.Ala215Ser) c.469G>T (p.Ala157Ser) c.527-25929G>T (n.527-25929G>T) | gnomAD v3 gnomAD v4 |
| 6 | g.136872214C>A | CA365764420 | PEX7 | c.764C>A (p.Ala255Asp) c.*29C>A (n.*29C>A) c.452C>A c.650C>A (p.Ala217Asp) c.769C>A (n.769C>A) c.644C>A (p.Ala215Asp) c.470C>A (p.Ala157Asp) c.527-25928C>A (n.527-25928C>A) | gnomAD v4 |
| 6 | g.136872214C>G | CA365764421 | PEX7 | c.764C>G (p.Ala255Gly) c.*29C>G (n.*29C>G) c.452C>G c.650C>G (p.Ala217Gly) c.769C>G (n.769C>G) c.644C>G (p.Ala215Gly) c.470C>G (p.Ala157Gly) c.527-25928C>G (n.527-25928C>G) | |
| 6 | g.136872214C>T | CA148202575 | PEX7 | c.764C>T (p.Ala255Val) c.*29C>T (n.*29C>T) c.452C>T c.650C>T (p.Ala217Val) c.769C>T (n.769C>T) c.644C>T (p.Ala215Val) c.470C>T (p.Ala157Val) c.527-25928C>T (n.527-25928C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136872215T>A | CA452228777 | PEX7 | c.765T>A (p.Ala255=) c.*30T>A (n.*30T>A) c.453T>A c.651T>A (p.Ala217=) c.770T>A (n.770T>A) c.645T>A (p.Ala215=) c.471T>A (p.Ala157=) c.527-25927T>A (n.527-25927T>A) | gnomAD v4 |
| 6 | g.136872215T>C | CA452228778 | PEX7 | c.765T>C (p.Ala255=) c.*30T>C (n.*30T>C) c.453T>C c.651T>C (p.Ala217=) c.770T>C (n.770T>C) c.645T>C (p.Ala215=) c.471T>C (p.Ala157=) c.527-25927T>C (n.527-25927T>C) | gnomAD v4 |
| 6 | g.136872215T>G | CA452228779 | PEX7 | c.765T>G (p.Ala255=) c.*30T>G (n.*30T>G) c.453T>G c.651T>G (p.Ala217=) c.770T>G (n.770T>G) c.645T>G (p.Ala215=) c.471T>G (p.Ala157=) c.527-25927T>G (n.527-25927T>G) | ClinVar gnomAD v4 |
| 6 | g.136872215_136872216insGAG | CA2530711930 | PEX7 | c.765_766insGAG (p.Ala255_Ser256insGlu) c.*30_*31insGAG (n.*30_*31insGAG) c.453_454insGAG c.651_652insGAG (p.Ala217_Ser218insGlu) c.770_771insGAG (n.770_771insGAG) c.645_646insGAG (p.Ala215_Ser216insGlu) c.471_472insGAG (p.Ala157_Ser158insGlu) c.527-25927_527-25926insGAG (n.527-25927_527-25926insGAG) | |
| 6 | g.136872216T>A | CA365764424 | PEX7 | c.766T>A (p.Ser256Thr) c.*31T>A (n.*31T>A) c.454T>A c.652T>A (p.Ser218Thr) c.771T>A (n.771T>A) c.646T>A (p.Ser216Thr) c.472T>A (p.Ser158Thr) c.527-25926T>A (n.527-25926T>A) | |
| 6 | g.136872216T>C | CA365764422 | PEX7 | c.766T>C (p.Ser256Pro) c.*31T>C (n.*31T>C) c.454T>C c.652T>C (p.Ser218Pro) c.771T>C (n.771T>C) c.646T>C (p.Ser216Pro) c.472T>C (p.Ser158Pro) c.527-25926T>C (n.527-25926T>C) | |
| 6 | g.136872216T>G | CA365764423 | PEX7 | c.766T>G (p.Ser256Ala) c.*31T>G (n.*31T>G) c.454T>G c.652T>G (p.Ser218Ala) c.771T>G (n.771T>G) c.646T>G (p.Ser216Ala) c.472T>G (p.Ser158Ala) c.527-25926T>G (n.527-25926T>G) | |
| 6 | g.136872217C>A | CA365764425 | PEX7 | c.767C>A (p.Ser256Tyr) c.*32C>A (n.*32C>A) c.455C>A c.653C>A (p.Ser218Tyr) c.772C>A (n.772C>A) c.647C>A (p.Ser216Tyr) c.473C>A (p.Ser158Tyr) c.527-25925C>A (n.527-25925C>A) | |
| 6 | g.136872217C>G | CA365764426 | PEX7 | c.767C>G (p.Ser256Cys) c.*32C>G (n.*32C>G) c.455C>G c.653C>G (p.Ser218Cys) c.772C>G (n.772C>G) c.647C>G (p.Ser216Cys) c.473C>G (p.Ser158Cys) c.527-25925C>G (n.527-25925C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.136872217C>T | CA365764427 | PEX7 | c.767C>T (p.Ser256Phe) c.*32C>T (n.*32C>T) c.455C>T c.653C>T (p.Ser218Phe) c.772C>T (n.772C>T) c.647C>T (p.Ser216Phe) c.473C>T (p.Ser158Phe) c.527-25925C>T (n.527-25925C>T) | gnomAD v3 gnomAD v4 |
| 6 | g.136872218T>A | CA452228780 | PEX7 | c.768T>A (p.Ser256=) c.*33T>A (n.*33T>A) c.456T>A c.654T>A (p.Ser218=) c.773T>A (n.773T>A) c.648T>A (p.Ser216=) c.474T>A (p.Ser158=) c.527-25924T>A (n.527-25924T>A) | |
| 6 | g.136872218T>C | CA452228781 | PEX7 | c.768T>C (p.Ser256=) c.*33T>C (n.*33T>C) c.456T>C c.654T>C (p.Ser218=) c.773T>C (n.773T>C) c.648T>C (p.Ser216=) c.474T>C (p.Ser158=) c.527-25924T>C (n.527-25924T>C) | gnomAD v4 |
| 6 | g.136872218T>G | CA452228782 | PEX7 | c.768T>G (p.Ser256=) c.*33T>G (n.*33T>G) c.456T>G c.654T>G (p.Ser218=) c.773T>G (n.773T>G) c.648T>G (p.Ser216=) c.474T>G (p.Ser158=) c.527-25924T>G (n.527-25924T>G) | |
| 6 | g.136872219G>A | CA4017754 | PEX7 | c.769G>A (p.Val257Met) c.*34G>A (n.*34G>A) c.457G>A c.655G>A (p.Val219Met) c.774G>A (n.774G>A) c.649G>A (p.Val217Met) c.475G>A (p.Val159Met) c.527-25923G>A (n.527-25923G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136872219G>C | CA365764428 | PEX7 | c.769G>C (p.Val257Leu) c.*34G>C (n.*34G>C) c.457G>C c.655G>C (p.Val219Leu) c.774G>C (n.774G>C) c.649G>C (p.Val217Leu) c.475G>C (p.Val159Leu) c.527-25923G>C (n.527-25923G>C) | |
| 6 | g.136872219G>T | CA365764429 | PEX7 | c.769G>T (p.Val257Leu) c.*34G>T (n.*34G>T) c.457G>T c.655G>T (p.Val219Leu) c.774G>T (n.774G>T) c.649G>T (p.Val217Leu) c.475G>T (p.Val159Leu) c.527-25923G>T (n.527-25923G>T) | gnomAD v3 gnomAD v4 |
| 6 | g.136872220T>A | CA365764430 | PEX7 | c.770T>A (p.Val257Glu) c.*35T>A (n.*35T>A) c.458T>A c.656T>A (p.Val219Glu) c.775T>A (n.775T>A) c.650T>A (p.Val217Glu) c.476T>A (p.Val159Glu) c.527-25922T>A (n.527-25922T>A) | |
| 6 | g.136872220T>C | CA365764431 | PEX7 | c.770T>C (p.Val257Ala) c.*35T>C (n.*35T>C) c.458T>C c.656T>C (p.Val219Ala) c.775T>C (n.775T>C) c.650T>C (p.Val217Ala) c.476T>C (p.Val159Ala) c.527-25922T>C (n.527-25922T>C) | |
| 6 | g.136872220T>G | CA365764432 | PEX7 | c.770T>G (p.Val257Gly) c.*35T>G (n.*35T>G) c.458T>G c.656T>G (p.Val219Gly) c.775T>G (n.775T>G) c.650T>G (p.Val217Gly) c.476T>G (p.Val159Gly) c.527-25922T>G (n.527-25922T>G) | gnomAD v4 |
| 6 | g.136872224_136872234del | CA16041020 | PEX7 | c.774_784del (p.Ala259ValfsTer2) c.*39_*49del (n.*39_*49del) c.462_472del c.660_670del (p.Ala221ValfsTer2) c.779_789del (n.779_789del) c.654_664del (p.Ala219ValfsTer2) c.480_490del (p.Ala161ValfsTer2) c.527-25918_527-25908del (n.527-25918_527-25908del) | ClinVar dbSNP |
| 6 | g.136872221G>A | CA452228783 | PEX7 | c.771G>A (p.Val257=) c.*36G>A (n.*36G>A) c.459G>A c.657G>A (p.Val219=) c.776G>A (n.776G>A) c.651G>A (p.Val217=) c.477G>A (p.Val159=) c.527-25921G>A (n.527-25921G>A) | |
| 6 | g.136872221G>C | CA452228784 | PEX7 | c.771G>C (p.Val257=) c.*36G>C (n.*36G>C) c.459G>C c.657G>C (p.Val219=) c.776G>C (n.776G>C) c.651G>C (p.Val217=) c.477G>C (p.Val159=) c.527-25921G>C (n.527-25921G>C) | |
| 6 | g.136872221G>T | CA452228785 | PEX7 | c.771G>T (p.Val257=) c.*36G>T (n.*36G>T) c.459G>T c.657G>T (p.Val219=) c.776G>T (n.776G>T) c.651G>T (p.Val217=) c.477G>T (p.Val159=) c.527-25921G>T (n.527-25921G>T) | gnomAD v3 gnomAD v4 |
| 6 | g.136872222C>A | CA365764433 | PEX7 | c.772C>A (p.Leu258Met) c.*37C>A (n.*37C>A) c.460C>A c.658C>A (p.Leu220Met) c.777C>A (n.777C>A) c.652C>A (p.Leu218Met) c.478C>A (p.Leu160Met) c.527-25920C>A (n.527-25920C>A) | |
| 6 | g.136872222C>G | CA365764434 | PEX7 | c.772C>G (p.Leu258Val) c.*37C>G (n.*37C>G) c.460C>G c.658C>G (p.Leu220Val) c.777C>G (n.777C>G) c.652C>G (p.Leu218Val) c.478C>G (p.Leu160Val) c.527-25920C>G (n.527-25920C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.136872222C>T | CA452228786 | PEX7 | c.772C>T (p.Leu258=) c.*37C>T (n.*37C>T) c.460C>T c.658C>T (p.Leu220=) c.777C>T (n.777C>T) c.652C>T (p.Leu218=) c.478C>T (p.Leu160=) c.527-25920C>T (n.527-25920C>T) | ClinVar gnomAD v3 gnomAD v4 |
| 6 | g.136872223T>A | CA365764435 | PEX7 | c.773T>A (p.Leu258Gln) c.*38T>A (n.*38T>A) c.461T>A c.659T>A (p.Leu220Gln) c.778T>A (n.778T>A) c.653T>A (p.Leu218Gln) c.479T>A (p.Leu160Gln) c.527-25919T>A (n.527-25919T>A) | |
| 6 | g.136872223T>C | CA4017755 | PEX7 | c.773T>C (p.Leu258Pro) c.*38T>C (n.*38T>C) c.461T>C c.659T>C (p.Leu220Pro) c.778T>C (n.778T>C) c.653T>C (p.Leu218Pro) c.479T>C (p.Leu160Pro) c.527-25919T>C (n.527-25919T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.136872223T>G | CA365764436 | PEX7 | c.773T>G (p.Leu258Arg) c.*38T>G (n.*38T>G) c.461T>G c.659T>G (p.Leu220Arg) c.778T>G (n.778T>G) c.653T>G (p.Leu218Arg) c.479T>G (p.Leu160Arg) c.527-25919T>G (n.527-25919T>G) | |
| 6 | g.136872224G>A | CA452228789 | PEX7 | c.774G>A (p.Leu258=) c.*39G>A (n.*39G>A) c.462G>A c.660G>A (p.Leu220=) c.779G>A (n.779G>A) c.654G>A (p.Leu218=) c.480G>A (p.Leu160=) c.527-25918G>A (n.527-25918G>A) | |
| 6 | g.136872224G>C | CA452228788 | PEX7 | c.774G>C (p.Leu258=) c.*39G>C (n.*39G>C) c.462G>C c.660G>C (p.Leu220=) c.779G>C (n.779G>C) c.654G>C (p.Leu218=) c.480G>C (p.Leu160=) c.527-25918G>C (n.527-25918G>C) | gnomAD v4 |
| 6 | g.136872224G>T | CA452228787 | PEX7 | c.774G>T (p.Leu258=) c.*39G>T (n.*39G>T) c.462G>T c.660G>T (p.Leu220=) c.779G>T (n.779G>T) c.654G>T (p.Leu218=) c.480G>T (p.Leu160=) c.527-25918G>T (n.527-25918G>T) | gnomAD v3 gnomAD v4 |
| 6 | g.136872225G>A | CA365764437 | PEX7 | c.775G>A (p.Ala259Thr) c.*40G>A (n.*40G>A) c.463G>A c.661G>A (p.Ala221Thr) c.780G>A (n.780G>A) c.655G>A (p.Ala219Thr) c.481G>A (p.Ala161Thr) c.527-25917G>A (n.527-25917G>A) | gnomAD v4 COSMIC |
| 6 | g.136872225G>C | CA365764438 | PEX7 | c.775G>C (p.Ala259Pro) c.*40G>C (n.*40G>C) c.463G>C c.661G>C (p.Ala221Pro) c.780G>C (n.780G>C) c.655G>C (p.Ala219Pro) c.481G>C (p.Ala161Pro) c.527-25917G>C (n.527-25917G>C) | |
| 6 | g.136872225G>T | CA365764439 | PEX7 | c.775G>T (p.Ala259Ser) c.*40G>T (n.*40G>T) c.463G>T c.661G>T (p.Ala221Ser) c.780G>T (n.780G>T) c.655G>T (p.Ala219Ser) c.481G>T (p.Ala161Ser) c.527-25917G>T (n.527-25917G>T) | gnomAD v4 |
| 6 | g.136872226C>A | CA365764440 | PEX7 | c.776C>A (p.Ala259Asp) c.*41C>A (n.*41C>A) c.464C>A c.662C>A (p.Ala221Asp) c.781C>A (n.781C>A) c.656C>A (p.Ala219Asp) c.482C>A (p.Ala161Asp) c.527-25916C>A (n.527-25916C>A) | |
| 6 | g.136872226C>G | CA365764441 | PEX7 | c.776C>G (p.Ala259Gly) c.*41C>G (n.*41C>G) c.464C>G c.662C>G (p.Ala221Gly) c.781C>G (n.781C>G) c.656C>G (p.Ala219Gly) c.482C>G (p.Ala161Gly) c.527-25916C>G (n.527-25916C>G) | |
| 6 | g.136872226C>T | CA4017756 | PEX7 | c.776C>T (p.Ala259Val) c.*41C>T (n.*41C>T) c.464C>T c.662C>T (p.Ala221Val) c.781C>T (n.781C>T) c.656C>T (p.Ala219Val) c.482C>T (p.Ala161Val) c.527-25916C>T (n.527-25916C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136872227C>A | CA452228790 | PEX7 | c.777C>A (p.Ala259=) c.*42C>A (n.*42C>A) c.465C>A c.663C>A (p.Ala221=) c.782C>A (n.782C>A) c.657C>A (p.Ala219=) c.483C>A (p.Ala161=) c.527-25915C>A (n.527-25915C>A) | |
| 6 | g.136872227C>G | CA452228791 | PEX7 | c.777C>G (p.Ala259=) c.*42C>G (n.*42C>G) c.465C>G c.663C>G (p.Ala221=) c.782C>G (n.782C>G) c.657C>G (p.Ala219=) c.483C>G (p.Ala161=) c.527-25915C>G (n.527-25915C>G) | ClinVar dbSNP |
| 6 | g.136872227C>T | CA452228792 | PEX7 | c.777C>T (p.Ala259=) c.*42C>T (n.*42C>T) c.465C>T c.663C>T (p.Ala221=) c.782C>T (n.782C>T) c.657C>T (p.Ala219=) c.483C>T (p.Ala161=) c.527-25915C>T (n.527-25915C>T) | gnomAD v4 COSMIC |
| 6 | g.136872228T>A | CA365764442 | PEX7 | c.778T>A (p.Ser260Thr) c.*43T>A (n.*43T>A) c.466T>A c.664T>A (p.Ser222Thr) c.783T>A (n.783T>A) c.658T>A (p.Ser220Thr) c.484T>A (p.Ser162Thr) c.527-25914T>A (n.527-25914T>A) | ClinVar |
| 6 | g.136872228T>C | CA365764443 | PEX7 | c.778T>C (p.Ser260Pro) c.*43T>C (n.*43T>C) c.466T>C c.664T>C (p.Ser222Pro) c.783T>C (n.783T>C) c.658T>C (p.Ser220Pro) c.484T>C (p.Ser162Pro) c.527-25914T>C (n.527-25914T>C) | gnomAD v4 |