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 |
|---|---|---|---|---|---|
| 1 | g.2406531_2406543del | CA2739272221 | PEX10 | c.918_930del (p.Pro307CysfsTer?) c.858_870del (p.Pro287CysfsTer?) c.812_824del c.*224_*236del (n.*224_*236del) c.915_927del (p.Pro306CysfsTer?) c.483_495del (p.Pro162CysfsTer?) n.974_986del n.923_935del c.426_438del (p.Pro143CysfsTer?) n.973_985del | ClinVar |
| 1 | g.2406529dup | CA2574179393 | PEX10 | c.928dup (p.His310ProfsTer?) c.868dup (p.His290ProfsTer?) c.822dup c.*234dup (n.*234dup) c.925dup (p.His309ProfsTer?) c.493dup (p.His165ProfsTer?) n.984dup n.933dup c.436dup (p.His146ProfsTer?) n.983dup | ClinVar gnomAD v4 |
| 1 | g.2406529G>A | CA415775389 | PEX10 | c.927C>T (p.Gly309=) c.867C>T (p.Gly289=) c.821C>T c.*233C>T (n.*233C>T) c.924C>T (p.Gly308=) c.492C>T (p.Gly164=) n.983C>T n.932C>T c.435C>T (p.Gly145=) n.982C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.2406529G>C | CA415775387 | PEX10 | c.927C>G (p.Gly309=) c.867C>G (p.Gly289=) c.821C>G c.*233C>G (n.*233C>G) c.924C>G (p.Gly308=) c.492C>G (p.Gly164=) n.983C>G n.932C>G c.435C>G (p.Gly145=) n.982C>G | |
| 1 | g.2406529G= | CA1149570833 | PEX10 | c.927C= (p.Gly309=) c.867C= (p.Gly289=) c.821C= c.*233C= (n.*233C=) c.924C= (p.Gly308=) c.492C= (p.Gly164=) n.983C= n.932C= c.435C= (p.Gly145=) n.982C= | |
| 1 | g.2406529G>T | CA415775388 | PEX10 | c.927C>A (p.Gly309=) c.867C>A (p.Gly289=) c.821C>A c.*233C>A (n.*233C>A) c.924C>A (p.Gly308=) c.492C>A (p.Gly164=) n.983C>A n.932C>A c.435C>A (p.Gly145=) n.982C>A | |
| 1 | g.2406530C>A | CA337984273 | PEX10 | c.926G>T (p.Gly309Val) c.866G>T (p.Gly289Val) c.820G>T c.*232G>T (n.*232G>T) c.923G>T (p.Gly308Val) c.491G>T (p.Gly164Val) n.982G>T n.931G>T c.434G>T (p.Gly145Val) n.981G>T | |
| 1 | g.2406530C>G | CA337984268 | PEX10 | c.926G>C (p.Gly309Ala) c.866G>C (p.Gly289Ala) c.820G>C c.*232G>C (n.*232G>C) c.923G>C (p.Gly308Ala) c.491G>C (p.Gly164Ala) n.982G>C n.931G>C c.434G>C (p.Gly145Ala) n.981G>C | |
| 1 | g.2406530C>T | CA337984271 | PEX10 | c.926G>A (p.Gly309Asp) c.866G>A (p.Gly289Asp) c.820G>A c.*232G>A (n.*232G>A) c.923G>A (p.Gly308Asp) c.491G>A (p.Gly164Asp) n.982G>A n.931G>A c.434G>A (p.Gly145Asp) n.981G>A | |
| 1 | g.2406531C>A | CA337984277 | PEX10 | c.925G>T (p.Gly309Cys) c.865G>T (p.Gly289Cys) c.819G>T c.*231G>T (n.*231G>T) c.922G>T (p.Gly308Cys) c.490G>T (p.Gly164Cys) n.981G>T n.930G>T c.433G>T (p.Gly145Cys) n.980G>T | |
| 1 | g.2406531C= | CA1146471084 | PEX10 | c.925G= (p.Gly309=) c.865G= (p.Gly289=) c.819G= c.*231G= (n.*231G=) c.922G= (p.Gly308=) c.490G= (p.Gly164=) n.981G= n.930G= c.433G= (p.Gly145=) n.980G= | |
| 1 | g.2406531C>G | CA337984279 | PEX10 | c.925G>C (p.Gly309Arg) c.865G>C (p.Gly289Arg) c.819G>C c.*231G>C (n.*231G>C) c.922G>C (p.Gly308Arg) c.490G>C (p.Gly164Arg) n.981G>C n.930G>C c.433G>C (p.Gly145Arg) n.980G>C | |
| 1 | g.2406531C>T | CA537992 | PEX10 | c.925G>A (p.Gly309Ser) c.865G>A (p.Gly289Ser) c.819G>A c.*231G>A (n.*231G>A) c.922G>A (p.Gly308Ser) c.490G>A (p.Gly164Ser) n.981G>A n.930G>A c.433G>A (p.Gly145Ser) n.980G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.2406532G>A | CA537993 | PEX10 | c.924C>T (p.Cys308=) c.864C>T (p.Cys288=) c.818C>T c.*230C>T (n.*230C>T) c.921C>T (p.Cys307=) c.489C>T (p.Cys163=) n.980C>T n.929C>T c.432C>T (p.Cys144=) n.979C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.2406532G>C | CA337984285 | PEX10 | c.924C>G (p.Cys308Trp) c.864C>G (p.Cys288Trp) c.818C>G c.*230C>G (n.*230C>G) c.921C>G (p.Cys307Trp) c.489C>G (p.Cys163Trp) n.980C>G n.929C>G c.432C>G (p.Cys144Trp) n.979C>G | |
| 1 | g.2406532G= | CA1149570834 | PEX10 | c.924C= (p.Cys308=) c.864C= (p.Cys288=) c.818C= c.*230C= (n.*230C=) c.921C= (p.Cys307=) c.489C= (p.Cys163=) n.980C= n.929C= c.432C= (p.Cys144=) n.979C= | |
| 1 | g.2406532G>T | CA337984283 | PEX10 | c.924C>A (p.Cys308Ter) c.864C>A (p.Cys288Ter) c.818C>A c.*230C>A (n.*230C>A) c.921C>A (p.Cys307Ter) c.489C>A (p.Cys163Ter) n.980C>A n.929C>A c.432C>A (p.Cys144Ter) n.979C>A | |
| 1 | g.2406533C>A | CA337984289 | PEX10 | c.923G>T (p.Cys308Phe) c.863G>T (p.Cys288Phe) c.817G>T c.*229G>T (n.*229G>T) c.920G>T (p.Cys307Phe) c.488G>T (p.Cys163Phe) n.979G>T n.928G>T c.431G>T (p.Cys144Phe) n.978G>T | |
| 1 | g.2406533C>G | CA337984291 | PEX10 | c.923G>C (p.Cys308Ser) c.863G>C (p.Cys288Ser) c.817G>C c.*229G>C (n.*229G>C) c.920G>C (p.Cys307Ser) c.488G>C (p.Cys163Ser) n.979G>C n.928G>C c.431G>C (p.Cys144Ser) n.978G>C | |
| 1 | g.2406533C>T | CA337984293 | PEX10 | c.923G>A (p.Cys308Tyr) c.863G>A (p.Cys288Tyr) c.817G>A c.*229G>A (n.*229G>A) c.920G>A (p.Cys307Tyr) c.488G>A (p.Cys163Tyr) n.979G>A n.928G>A c.431G>A (p.Cys144Tyr) n.978G>A | gnomAD v4 |
| 1 | g.2406534A>C | CA337984296 | PEX10 | c.922T>G (p.Cys308Gly) c.862T>G (p.Cys288Gly) c.816T>G c.*228T>G (n.*228T>G) c.919T>G (p.Cys307Gly) c.487T>G (p.Cys163Gly) n.978T>G n.927T>G c.430T>G (p.Cys144Gly) n.977T>G | |
| 1 | g.2406534A>G | CA337984298 | PEX10 | c.922T>C (p.Cys308Arg) c.862T>C (p.Cys288Arg) c.816T>C c.*228T>C (n.*228T>C) c.919T>C (p.Cys307Arg) c.487T>C (p.Cys163Arg) n.978T>C n.927T>C c.430T>C (p.Cys144Arg) n.977T>C | |
| 1 | g.2406534A>T | CA337984300 | PEX10 | c.922T>A (p.Cys308Ser) c.862T>A (p.Cys288Ser) c.816T>A c.*228T>A (n.*228T>A) c.919T>A (p.Cys307Ser) c.487T>A (p.Cys163Ser) n.978T>A n.927T>A c.430T>A (p.Cys144Ser) n.977T>A | |
| 1 | g.2406535G>A | CA415775390 | PEX10 | c.921C>T (p.Pro307=) c.861C>T (p.Pro287=) c.815C>T c.*227C>T (n.*227C>T) c.918C>T (p.Pro306=) c.486C>T (p.Pro162=) n.977C>T n.926C>T c.429C>T (p.Pro143=) n.976C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.2406535G>C | CA415775392 | PEX10 | c.921C>G (p.Pro307=) c.861C>G (p.Pro287=) c.815C>G c.*227C>G (n.*227C>G) c.918C>G (p.Pro306=) c.486C>G (p.Pro162=) n.977C>G n.926C>G c.429C>G (p.Pro143=) n.976C>G | |
| 1 | g.2406535G= | CA1149570835 | PEX10 | c.921C= (p.Pro307=) c.861C= (p.Pro287=) c.815C= c.*227C= (n.*227C=) c.918C= (p.Pro306=) c.486C= (p.Pro162=) n.977C= n.926C= c.429C= (p.Pro143=) n.976C= | |
| 1 | g.2406535G>T | CA415775391 | PEX10 | c.921C>A (p.Pro307=) c.861C>A (p.Pro287=) c.815C>A c.*227C>A (n.*227C>A) c.918C>A (p.Pro306=) c.486C>A (p.Pro162=) n.977C>A n.926C>A c.429C>A (p.Pro143=) n.976C>A | |
| 1 | g.2406536G>A | CA337984303 | PEX10 | c.920C>T (p.Pro307Leu) c.860C>T (p.Pro287Leu) c.814C>T c.*226C>T (n.*226C>T) c.917C>T (p.Pro306Leu) c.485C>T (p.Pro162Leu) n.976C>T n.925C>T c.428C>T (p.Pro143Leu) n.975C>T | |
| 1 | g.2406536G>C | CA337984306 | PEX10 | c.920C>G (p.Pro307Arg) c.860C>G (p.Pro287Arg) c.814C>G c.*226C>G (n.*226C>G) c.917C>G (p.Pro306Arg) c.485C>G (p.Pro162Arg) n.976C>G n.925C>G c.428C>G (p.Pro143Arg) n.975C>G | |
| 1 | g.2406536G>T | CA337984304 | PEX10 | c.920C>A (p.Pro307His) c.860C>A (p.Pro287His) c.814C>A c.*226C>A (n.*226C>A) c.917C>A (p.Pro306His) c.485C>A (p.Pro162His) n.976C>A n.925C>A c.428C>A (p.Pro143His) n.975C>A | |
| 1 | g.2406537G>A | CA337984308 | PEX10 | c.919C>T (p.Pro307Ser) c.859C>T (p.Pro287Ser) c.813C>T c.*225C>T (n.*225C>T) c.916C>T (p.Pro306Ser) c.484C>T (p.Pro162Ser) n.975C>T n.924C>T c.427C>T (p.Pro143Ser) n.974C>T | |
| 1 | g.2406537G>C | CA337984310 | PEX10 | c.919C>G (p.Pro307Ala) c.859C>G (p.Pro287Ala) c.813C>G c.*225C>G (n.*225C>G) c.916C>G (p.Pro306Ala) c.484C>G (p.Pro162Ala) n.975C>G n.924C>G c.427C>G (p.Pro143Ala) n.974C>G | |
| 1 | g.2406537G>T | CA337984312 | PEX10 | c.919C>A (p.Pro307Thr) c.859C>A (p.Pro287Thr) c.813C>A c.*225C>A (n.*225C>A) c.916C>A (p.Pro306Thr) c.484C>A (p.Pro162Thr) n.975C>A n.924C>A c.427C>A (p.Pro143Thr) n.974C>A | |
| 1 | g.2406538C>A | CA415775393 | PEX10 | c.918G>T (p.Thr306=) c.858G>T (p.Thr286=) c.812G>T c.*224G>T (n.*224G>T) c.915G>T (p.Thr305=) c.483G>T (p.Thr161=) n.974G>T n.923G>T c.426G>T (p.Thr142=) n.973G>T | |
| 1 | g.2406538C= | CA1144009961 | PEX10 | c.918G= (p.Thr306=) c.858G= (p.Thr286=) c.812G= c.*224G= (n.*224G=) c.915G= (p.Thr305=) c.483G= (p.Thr161=) n.974G= n.923G= c.426G= (p.Thr142=) n.973G= | |
| 1 | g.2406538C>G | CA415775394 | PEX10 | c.918G>C (p.Thr306=) c.858G>C (p.Thr286=) c.812G>C c.*224G>C (n.*224G>C) c.915G>C (p.Thr305=) c.483G>C (p.Thr161=) n.974G>C n.923G>C c.426G>C (p.Thr142=) n.973G>C | |
| 1 | g.2406538C>T | CA537994 | PEX10 | c.918G>A (p.Thr306=) c.858G>A (p.Thr286=) c.812G>A c.*224G>A (n.*224G>A) c.915G>A (p.Thr305=) c.483G>A (p.Thr161=) n.974G>A n.923G>A c.426G>A (p.Thr142=) n.973G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.2406538dup | CA913073088 | PEX10 | c.918dup (p.Pro307AlafsTer?) c.858dup (p.Pro287AlafsTer?) c.812dup c.*224dup (n.*224dup) c.915dup (p.Pro306AlafsTer?) c.483dup (p.Pro162AlafsTer?) n.974dup n.923dup c.426dup (p.Pro143AlafsTer?) n.973dup | |
| 1 | g.2406539G>A | CA537995 | PEX10 | c.917C>T (p.Thr306Met) c.857C>T (p.Thr286Met) c.811C>T c.*223C>T (n.*223C>T) c.914C>T (p.Thr305Met) c.482C>T (p.Thr161Met) n.973C>T n.922C>T c.425C>T (p.Thr142Met) n.972C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.2406539G>C | CA337984315 | PEX10 | c.917C>G (p.Thr306Arg) c.857C>G (p.Thr286Arg) c.811C>G c.*223C>G (n.*223C>G) c.914C>G (p.Thr305Arg) c.482C>G (p.Thr161Arg) n.973C>G n.922C>G c.425C>G (p.Thr142Arg) n.972C>G | |
| 1 | g.2406539G= | CA1149570836 | PEX10 | c.917C= (p.Thr306=) c.857C= (p.Thr286=) c.811C= c.*223C= (n.*223C=) c.914C= (p.Thr305=) c.482C= (p.Thr161=) n.973C= n.922C= c.425C= (p.Thr142=) n.972C= | |
| 1 | g.2406539G>T | CA337984317 | PEX10 | c.917C>A (p.Thr306Lys) c.857C>A (p.Thr286Lys) c.811C>A c.*223C>A (n.*223C>A) c.914C>A (p.Thr305Lys) c.482C>A (p.Thr161Lys) n.973C>A n.922C>A c.425C>A (p.Thr142Lys) n.972C>A | |
| 1 | g.2406540_2406542dup | CA658820964 | PEX10 | c.915_917dup (p.Thr306_Pro307insThr) c.855_857dup (p.Thr286_Pro287insThr) c.809_811dup c.*221_*223dup (n.*221_*223dup) c.912_914dup (p.Thr305_Pro306insThr) c.480_482dup (p.Thr161_Pro162insThr) n.971_973dup n.920_922dup c.423_425dup (p.Thr142_Pro143insThr) n.970_972dup | ClinVar dbSNP |
| 1 | g.2406540T>A | CA337984325 | PEX10 | c.916A>T (p.Thr306Ser) c.856A>T (p.Thr286Ser) c.810A>T c.*222A>T (n.*222A>T) c.913A>T (p.Thr305Ser) c.481A>T (p.Thr161Ser) n.972A>T n.921A>T c.424A>T (p.Thr142Ser) n.971A>T | |
| 1 | g.2406540T>C | CA337984327 | PEX10 | c.916A>G (p.Thr306Ala) c.856A>G (p.Thr286Ala) c.810A>G c.*222A>G (n.*222A>G) c.913A>G (p.Thr305Ala) c.481A>G (p.Thr161Ala) n.972A>G n.921A>G c.424A>G (p.Thr142Ala) n.971A>G | |
| 1 | g.2406540T>G | CA337984329 | PEX10 | c.916A>C (p.Thr306Pro) c.856A>C (p.Thr286Pro) c.810A>C c.*222A>C (n.*222A>C) c.913A>C (p.Thr305Pro) c.481A>C (p.Thr161Pro) n.972A>C n.921A>C c.424A>C (p.Thr142Pro) n.971A>C | |
| 1 | g.2406541G>A | CA415775395 | PEX10 | c.915C>T (p.Ala305=) c.855C>T (p.Ala285=) c.809C>T c.*221C>T (n.*221C>T) c.912C>T (p.Ala304=) c.480C>T (p.Ala160=) n.971C>T n.920C>T c.423C>T (p.Ala141=) n.970C>T | ClinVar |
| 1 | g.2406541G>C | CA415775396 | PEX10 | c.915C>G (p.Ala305=) c.855C>G (p.Ala285=) c.809C>G c.*221C>G (n.*221C>G) c.912C>G (p.Ala304=) c.480C>G (p.Ala160=) n.971C>G n.920C>G c.423C>G (p.Ala141=) n.970C>G | |
| 1 | g.2406541G= | CA1149570837 | PEX10 | c.915C= (p.Ala305=) c.855C= (p.Ala285=) c.809C= c.*221C= (n.*221C=) c.912C= (p.Ala304=) c.480C= (p.Ala160=) n.971C= n.920C= c.423C= (p.Ala141=) n.970C= | |
| 1 | g.2406541G>T | CA415775397 | PEX10 | c.915C>A (p.Ala305=) c.855C>A (p.Ala285=) c.809C>A c.*221C>A (n.*221C>A) c.912C>A (p.Ala304=) c.480C>A (p.Ala160=) n.971C>A n.920C>A c.423C>A (p.Ala141=) n.970C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |