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 |
|---|---|---|---|---|---|
| 5 | g.137639960G>A | CA3422336 | KLHL3 | c.921C>T (p.Gly307=) n.508C>T c.*335-11523C>T (n.*335-11523C>T) c.801C>T (p.Gly267=) c.675C>T (p.Gly225=) n.546C>T c.825C>T (p.Gly275=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.137639960G>C | CA446561571 | KLHL3 | c.921C>G (p.Gly307=) n.508C>G c.*335-11523C>G (n.*335-11523C>G) c.801C>G (p.Gly267=) c.675C>G (p.Gly225=) n.546C>G c.825C>G (p.Gly275=) | |
| 5 | g.137639960G= | CA1585498506 | KLHL3 | c.921C= (p.Gly307=) n.508C= c.*335-11523C= (n.*335-11523C=) c.801C= (p.Gly267=) c.675C= (p.Gly225=) n.546C= c.825C= (p.Gly275=) | |
| 5 | g.137639960G>T | CA446561572 | KLHL3 | c.921C>A (p.Gly307=) n.508C>A c.*335-11523C>A (n.*335-11523C>A) c.801C>A (p.Gly267=) c.675C>A (p.Gly225=) n.546C>A c.825C>A (p.Gly275=) | |
| 5 | g.137639961C>A | CA361049001 | KLHL3 | c.920G>T (p.Gly307Val) n.507G>T c.*335-11524G>T (n.*335-11524G>T) c.800G>T (p.Gly267Val) c.674G>T (p.Gly225Val) n.545G>T c.824G>T (p.Gly275Val) | |
| 5 | g.137639961C>G | CA361049003 | KLHL3 | c.920G>C (p.Gly307Ala) n.507G>C c.*335-11524G>C (n.*335-11524G>C) c.800G>C (p.Gly267Ala) c.674G>C (p.Gly225Ala) n.545G>C c.824G>C (p.Gly275Ala) | |
| 5 | g.137639961C>T | CA361049005 | KLHL3 | c.920G>A (p.Gly307Asp) n.507G>A c.*335-11524G>A (n.*335-11524G>A) c.800G>A (p.Gly267Asp) c.674G>A (p.Gly225Asp) n.545G>A c.824G>A (p.Gly275Asp) | |
| 5 | g.137639962C>A | CA361049007 | KLHL3 | c.919G>T (p.Gly307Cys) n.506G>T c.*335-11525G>T (n.*335-11525G>T) c.799G>T (p.Gly267Cys) c.673G>T (p.Gly225Cys) n.544G>T c.823G>T (p.Gly275Cys) | |
| 5 | g.137639962C= | CA1585498509 | KLHL3 | c.919G= (p.Gly307=) n.506G= c.*335-11525G= (n.*335-11525G=) c.799G= (p.Gly267=) c.673G= (p.Gly225=) n.544G= c.823G= (p.Gly275=) | |
| 5 | g.137639962C>G | CA361049008 | KLHL3 | c.919G>C (p.Gly307Arg) n.506G>C c.*335-11525G>C (n.*335-11525G>C) c.799G>C (p.Gly267Arg) c.673G>C (p.Gly225Arg) n.544G>C c.823G>C (p.Gly275Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.137639962C>T | CA361049010 | KLHL3 | c.919G>A (p.Gly307Ser) n.506G>A c.*335-11525G>A (n.*335-11525G>A) c.799G>A (p.Gly267Ser) c.673G>A (p.Gly225Ser) n.544G>A c.823G>A (p.Gly275Ser) | |
| 5 | g.137639963A>C | CA446561573 | KLHL3 | c.918T>G (p.Val306=) n.505T>G c.*335-11526T>G (n.*335-11526T>G) c.798T>G (p.Val266=) c.672T>G (p.Val224=) n.543T>G c.822T>G (p.Val274=) | |
| 5 | g.137639963A>G | CA446561574 | KLHL3 | c.918T>C (p.Val306=) n.505T>C c.*335-11526T>C (n.*335-11526T>C) c.798T>C (p.Val266=) c.672T>C (p.Val224=) n.543T>C c.822T>C (p.Val274=) | |
| 5 | g.137639963A>T | CA446561575 | KLHL3 | c.918T>A (p.Val306=) n.505T>A c.*335-11526T>A (n.*335-11526T>A) c.798T>A (p.Val266=) c.672T>A (p.Val224=) n.543T>A c.822T>A (p.Val274=) | |
| 5 | g.137639964A>C | CA361049015 | KLHL3 | c.917T>G (p.Val306Gly) n.504T>G c.*335-11527T>G (n.*335-11527T>G) c.797T>G (p.Val266Gly) c.671T>G (p.Val224Gly) n.542T>G c.821T>G (p.Val274Gly) | |
| 5 | g.137639964A>G | CA361049014 | KLHL3 | c.917T>C (p.Val306Ala) n.504T>C c.*335-11527T>C (n.*335-11527T>C) c.797T>C (p.Val266Ala) c.671T>C (p.Val224Ala) n.542T>C c.821T>C (p.Val274Ala) | |
| 5 | g.137639964A>T | CA361049012 | KLHL3 | c.917T>A (p.Val306Asp) n.504T>A c.*335-11527T>A (n.*335-11527T>A) c.797T>A (p.Val266Asp) c.671T>A (p.Val224Asp) n.542T>A c.821T>A (p.Val274Asp) | |
| 5 | g.137639965C>A | CA361049016 | KLHL3 | c.916G>T (p.Val306Phe) n.503G>T c.*335-11528G>T (n.*335-11528G>T) c.796G>T (p.Val266Phe) c.670G>T (p.Val224Phe) n.541G>T c.820G>T (p.Val274Phe) | |
| 5 | g.137639965C>G | CA361049017 | KLHL3 | c.916G>C (p.Val306Leu) n.503G>C c.*335-11528G>C (n.*335-11528G>C) c.796G>C (p.Val266Leu) c.670G>C (p.Val224Leu) n.541G>C c.820G>C (p.Val274Leu) | |
| 5 | g.137639965C>T | CA361049018 | KLHL3 | c.916G>A (p.Val306Ile) n.503G>A c.*335-11528G>A (n.*335-11528G>A) c.796G>A (p.Val266Ile) c.670G>A (p.Val224Ile) n.541G>A c.820G>A (p.Val274Ile) | |
| 5 | g.137639966C>A | CA446561578 | KLHL3 | c.915G>T (p.Val305=) n.502G>T c.*335-11529G>T (n.*335-11529G>T) c.795G>T (p.Val265=) c.669G>T (p.Val223=) n.540G>T c.819G>T (p.Val273=) | dbSNP gnomAD v2 |
| 5 | g.137639966C= | CA1585498511 | KLHL3 | c.915G= (p.Val305=) n.502G= c.*335-11529G= (n.*335-11529G=) c.795G= (p.Val265=) c.669G= (p.Val223=) n.540G= c.819G= (p.Val273=) | |
| 5 | g.137639966C>G | CA446561576 | KLHL3 | c.915G>C (p.Val305=) n.502G>C c.*335-11529G>C (n.*335-11529G>C) c.795G>C (p.Val265=) c.669G>C (p.Val223=) n.540G>C c.819G>C (p.Val273=) | |
| 5 | g.137639966C>T | CA446561577 | KLHL3 | c.915G>A (p.Val305=) n.502G>A c.*335-11529G>A (n.*335-11529G>A) c.795G>A (p.Val265=) c.669G>A (p.Val223=) n.540G>A c.819G>A (p.Val273=) | gnomAD v4 |
| 5 | g.137639967A>C | CA361049020 | KLHL3 | c.914T>G (p.Val305Gly) n.501T>G c.*335-11530T>G (n.*335-11530T>G) c.794T>G (p.Val265Gly) c.668T>G (p.Val223Gly) n.539T>G c.818T>G (p.Val273Gly) | |
| 5 | g.137639967A>G | CA361049022 | KLHL3 | c.914T>C (p.Val305Ala) n.501T>C c.*335-11530T>C (n.*335-11530T>C) c.794T>C (p.Val265Ala) c.668T>C (p.Val223Ala) n.539T>C c.818T>C (p.Val273Ala) | |
| 5 | g.137639967A>T | CA361049023 | KLHL3 | c.914T>A (p.Val305Glu) n.501T>A c.*335-11530T>A (n.*335-11530T>A) c.794T>A (p.Val265Glu) c.668T>A (p.Val223Glu) n.539T>A c.818T>A (p.Val273Glu) | |
| 5 | g.137639968C>A | CA361049025 | KLHL3 | c.913G>T (p.Val305Leu) n.500G>T c.*335-11531G>T (n.*335-11531G>T) c.793G>T (p.Val265Leu) c.667G>T (p.Val223Leu) n.538G>T c.817G>T (p.Val273Leu) | |
| 5 | g.137639968C>G | CA361049027 | KLHL3 | c.913G>C (p.Val305Leu) n.500G>C c.*335-11531G>C (n.*335-11531G>C) c.793G>C (p.Val265Leu) c.667G>C (p.Val223Leu) n.538G>C c.817G>C (p.Val273Leu) | |
| 5 | g.137639968C>T | CA361049028 | KLHL3 | c.913G>A (p.Val305Met) n.500G>A c.*335-11531G>A (n.*335-11531G>A) c.793G>A (p.Val265Met) c.667G>A (p.Val223Met) n.538G>A c.817G>A (p.Val273Met) | |
| 5 | g.137639969A>C | CA361049029 | KLHL3 | c.912T>G (p.Ile304Met) n.499T>G c.*335-11532T>G (n.*335-11532T>G) c.792T>G (p.Ile264Met) c.666T>G (p.Ile222Met) n.537T>G c.816T>G (p.Ile272Met) | |
| 5 | g.137639969A>G | CA446561579 | KLHL3 | c.912T>C (p.Ile304=) n.499T>C c.*335-11532T>C (n.*335-11532T>C) c.792T>C (p.Ile264=) c.666T>C (p.Ile222=) n.537T>C c.816T>C (p.Ile272=) | |
| 5 | g.137639969A>T | CA446561580 | KLHL3 | c.912T>A (p.Ile304=) n.499T>A c.*335-11532T>A (n.*335-11532T>A) c.792T>A (p.Ile264=) c.666T>A (p.Ile222=) n.537T>A c.816T>A (p.Ile272=) | |
| 5 | g.137639969_137639970insCCCAACAC | CA2768566576 | KLHL3 | c.911_912insGTGTTGGG (p.Ile304MetfsTer?) n.498_499insGTGTTGGG c.*335-11533_*335-11532insGTGTTGGG (n.*335-11533_*335-11532insGTGTTGGG) c.791_792insGTGTTGGG (p.Ile264MetfsTer?) c.665_666insGTGTTGGG (p.Ile222MetfsTer?) n.536_537insGTGTTGGG c.815_816insGTGTTGGG (p.Ile272MetfsTer?) | |
| 5 | g.137639970A= | CA1585498513 | KLHL3 | c.911T= (p.Ile304=) n.498T= c.*335-11533T= (n.*335-11533T=) c.791T= (p.Ile264=) c.665T= (p.Ile222=) n.536T= c.815T= (p.Ile272=) | |
| 5 | g.137639970A>C | CA361049031 | KLHL3 | c.911T>G (p.Ile304Ser) n.498T>G c.*335-11533T>G (n.*335-11533T>G) c.791T>G (p.Ile264Ser) c.665T>G (p.Ile222Ser) n.536T>G c.815T>G (p.Ile272Ser) | |
| 5 | g.137639970A>G | CA128104539 | KLHL3 | c.911T>C (p.Ile304Thr) n.498T>C c.*335-11533T>C (n.*335-11533T>C) c.791T>C (p.Ile264Thr) c.665T>C (p.Ile222Thr) n.536T>C c.815T>C (p.Ile272Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.137639970A>T | CA361049033 | KLHL3 | c.911T>A (p.Ile304Asn) n.498T>A c.*335-11533T>A (n.*335-11533T>A) c.791T>A (p.Ile264Asn) c.665T>A (p.Ile222Asn) n.536T>A c.815T>A (p.Ile272Asn) | |
| 5 | g.137639971T>A | CA361049036 | KLHL3 | c.910A>T (p.Ile304Phe) n.497A>T c.*335-11534A>T (n.*335-11534A>T) c.790A>T (p.Ile264Phe) c.664A>T (p.Ile222Phe) n.535A>T c.814A>T (p.Ile272Phe) | |
| 5 | g.137639971T>C | CA361049038 | KLHL3 | c.910A>G (p.Ile304Val) n.497A>G c.*335-11534A>G (n.*335-11534A>G) c.790A>G (p.Ile264Val) c.664A>G (p.Ile222Val) n.535A>G c.814A>G (p.Ile272Val) | |
| 5 | g.137639971T>G | CA361049035 | KLHL3 | c.910A>C (p.Ile304Leu) n.497A>C c.*335-11534A>C (n.*335-11534A>C) c.790A>C (p.Ile264Leu) c.664A>C (p.Ile222Leu) n.535A>C c.814A>C (p.Ile272Leu) | |
| 5 | g.137639972C>A | CA361049040 | KLHL3 | c.909G>T (p.Met303Ile) n.496G>T c.*335-11535G>T (n.*335-11535G>T) c.789G>T (p.Met263Ile) c.663G>T (p.Met221Ile) n.534G>T c.813G>T (p.Met271Ile) | gnomAD v4 |
| 5 | g.137639972C>G | CA361049041 | KLHL3 | c.909G>C (p.Met303Ile) n.496G>C c.*335-11535G>C (n.*335-11535G>C) c.789G>C (p.Met263Ile) c.663G>C (p.Met221Ile) n.534G>C c.813G>C (p.Met271Ile) | |
| 5 | g.137639972C>T | CA361049043 | KLHL3 | c.909G>A (p.Met303Ile) n.496G>A c.*335-11535G>A (n.*335-11535G>A) c.789G>A (p.Met263Ile) c.663G>A (p.Met221Ile) n.534G>A c.813G>A (p.Met271Ile) | |
| 5 | g.137639973A>C | CA361049044 | KLHL3 | c.908T>G (p.Met303Arg) n.495T>G c.*335-11536T>G (n.*335-11536T>G) c.788T>G (p.Met263Arg) c.662T>G (p.Met221Arg) n.533T>G c.812T>G (p.Met271Arg) | |
| 5 | g.137639973A>G | CA361049046 | KLHL3 | c.908T>C (p.Met303Thr) n.495T>C c.*335-11536T>C (n.*335-11536T>C) c.788T>C (p.Met263Thr) c.662T>C (p.Met221Thr) n.533T>C c.812T>C (p.Met271Thr) | gnomAD v4 |
| 5 | g.137639973A>T | CA361049047 | KLHL3 | c.908T>A (p.Met303Lys) n.495T>A c.*335-11536T>A (n.*335-11536T>A) c.788T>A (p.Met263Lys) c.662T>A (p.Met221Lys) n.533T>A c.812T>A (p.Met271Lys) | |
| 5 | g.137639974T>A | CA361049049 | KLHL3 | c.907A>T (p.Met303Leu) n.494A>T c.*335-11537A>T (n.*335-11537A>T) c.787A>T (p.Met263Leu) c.661A>T (p.Met221Leu) n.532A>T c.811A>T (p.Met271Leu) | |
| 5 | g.137639974T>C | CA3422337 | KLHL3 | c.907A>G (p.Met303Val) n.494A>G c.*335-11537A>G (n.*335-11537A>G) c.787A>G (p.Met263Val) c.661A>G (p.Met221Val) n.532A>G c.811A>G (p.Met271Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.137639974T>G | CA361049051 | KLHL3 | c.907A>C (p.Met303Leu) n.494A>C c.*335-11537A>C (n.*335-11537A>C) c.787A>C (p.Met263Leu) c.661A>C (p.Met221Leu) n.532A>C c.811A>C (p.Met271Leu) | dbSNP gnomAD v4 |