| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.137639955T>A | CA361048986 | KLHL3 | c.926A>T (p.Gln309Leu) n.513A>T c.*335-11518A>T (n.*335-11518A>T) c.806A>T (p.Gln269Leu) c.680A>T (p.Gln227Leu) n.551A>T c.830A>T (p.Gln277Leu) | |
| 5 | g.137639955T>C | CA269982 | KLHL3 | c.926A>G (p.Gln309Arg) n.513A>G c.*335-11518A>G (n.*335-11518A>G) c.806A>G (p.Gln269Arg) c.680A>G (p.Gln227Arg) n.551A>G c.830A>G (p.Gln277Arg) | ClinVar dbSNP |
| 5 | g.137639955T>G | CA361048984 | KLHL3 | c.926A>C (p.Gln309Pro) n.513A>C c.*335-11518A>C (n.*335-11518A>C) c.806A>C (p.Gln269Pro) c.680A>C (p.Gln227Pro) n.551A>C c.830A>C (p.Gln277Pro) | |
| 5 | g.137639955T= | CA1585498500 | KLHL3 | c.926A= (p.Gln309=) n.513A= c.*335-11518A= (n.*335-11518A=) c.806A= (p.Gln269=) c.680A= (p.Gln227=) n.551A= c.830A= (p.Gln277=) | |
| 5 | g.137639956G>A | CA361048987 | KLHL3 | c.925C>T (p.Gln309Ter) n.512C>T c.*335-11519C>T (n.*335-11519C>T) c.805C>T (p.Gln269Ter) c.679C>T (p.Gln227Ter) n.550C>T c.829C>T (p.Gln277Ter) | |
| 5 | g.137639956G>C | CA361048990 | KLHL3 | c.925C>G (p.Gln309Glu) n.512C>G c.*335-11519C>G (n.*335-11519C>G) c.805C>G (p.Gln269Glu) c.679C>G (p.Gln227Glu) n.550C>G c.829C>G (p.Gln277Glu) | |
| 5 | g.137639956G>T | CA361048988 | KLHL3 | c.925C>A (p.Gln309Lys) n.512C>A c.*335-11519C>A (n.*335-11519C>A) c.805C>A (p.Gln269Lys) c.679C>A (p.Gln227Lys) n.550C>A c.829C>A (p.Gln277Lys) | |
| 5 | g.137639957G>A | CA446561568 | KLHL3 | c.924C>T (p.Gly308=) n.511C>T c.*335-11520C>T (n.*335-11520C>T) c.804C>T (p.Gly268=) c.678C>T (p.Gly226=) n.549C>T c.828C>T (p.Gly276=) | dbSNP gnomAD v4 |
| 5 | g.137639957G>C | CA446561570 | KLHL3 | c.924C>G (p.Gly308=) n.511C>G c.*335-11520C>G (n.*335-11520C>G) c.804C>G (p.Gly268=) c.678C>G (p.Gly226=) n.549C>G c.828C>G (p.Gly276=) | |
| 5 | g.137639957G= | CA1585498504 | KLHL3 | c.924C= (p.Gly308=) n.511C= c.*335-11520C= (n.*335-11520C=) c.804C= (p.Gly268=) c.678C= (p.Gly226=) n.549C= c.828C= (p.Gly276=) | |
| 5 | g.137639957G>T | CA446561569 | KLHL3 | c.924C>A (p.Gly308=) n.511C>A c.*335-11520C>A (n.*335-11520C>A) c.804C>A (p.Gly268=) c.678C>A (p.Gly226=) n.549C>A c.828C>A (p.Gly276=) | |
| 5 | g.137639958C>A | CA361048993 | KLHL3 | c.923G>T (p.Gly308Val) n.510G>T c.*335-11521G>T (n.*335-11521G>T) c.803G>T (p.Gly268Val) c.677G>T (p.Gly226Val) n.548G>T c.827G>T (p.Gly276Val) | |
| 5 | g.137639958C>G | CA361048994 | KLHL3 | c.923G>C (p.Gly308Ala) n.510G>C c.*335-11521G>C (n.*335-11521G>C) c.803G>C (p.Gly268Ala) c.677G>C (p.Gly226Ala) n.548G>C c.827G>C (p.Gly276Ala) | |
| 5 | g.137639958C>T | CA361048995 | KLHL3 | c.923G>A (p.Gly308Asp) n.510G>A c.*335-11521G>A (n.*335-11521G>A) c.803G>A (p.Gly268Asp) c.677G>A (p.Gly226Asp) n.548G>A c.827G>A (p.Gly276Asp) | |
| 5 | g.137639959C>A | CA361048996 | KLHL3 | c.922G>T (p.Gly308Cys) n.509G>T c.*335-11522G>T (n.*335-11522G>T) c.802G>T (p.Gly268Cys) c.676G>T (p.Gly226Cys) n.547G>T c.826G>T (p.Gly276Cys) | |
| 5 | g.137639959C>G | CA361048998 | KLHL3 | c.922G>C (p.Gly308Arg) n.509G>C c.*335-11522G>C (n.*335-11522G>C) c.802G>C (p.Gly268Arg) c.676G>C (p.Gly226Arg) n.547G>C c.826G>C (p.Gly276Arg) | |
| 5 | g.137639959C>T | CA361048999 | KLHL3 | c.922G>A (p.Gly308Ser) n.509G>A c.*335-11522G>A (n.*335-11522G>A) c.802G>A (p.Gly268Ser) c.676G>A (p.Gly226Ser) n.547G>A c.826G>A (p.Gly276Ser) | COSMIC |
| 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=) |