| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.42930681_42930750delinsCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACA | CA1165412757 | SLC2A1 | c.392_461delinsTGTACTGCGGCCTGACCACAGGCTTCGTGCCCATGTATGTGGGTGAAGTGTCACCCACAGCCCTTCGTGG (p.Val131=) n.415_484delinsTGTACTGCGGCCTGACCACAGGCTTCGTGCCCATGTATGTGGGTGAAGTGTCACCCACAGCCCTTCGTGG n.841_910delinsTGTACTGCGGCCTGACCACAGGCTTCGTGCCCATGTATGTGGGTGAAGTGTCACCCACAGCCCTTCGTGG c.271_340delinsTGTACTGCGGCCTGACCACAGGCTTCGTGCCCATGTATGTGGGTGAAGTGTCACCCACAGCCCTTCGTGG (n.271_340delinsTGTACTGCGGCCTGACCACAGGCTTCGTGCCCATGTATGTGGGTGAAGTGTCACCCACAGCCCTTCGTGG) c.291_360delinsTGTACTGCGGCCTGACCACAGGCTTCGTGCCCATGTATGTGGGTGAAGTGTCACCCACAGCCCTTCGTGG n.600_669delinsTGTACTGCGGCCTGACCACAGGCTTCGTGCCCATGTATGTGGGTGAAGTGTCACCCACAGCCCTTCGTGG | |
| 1 | g.42930685_42930753del | CA915941230 | SLC2A1 | c.392_460del (p.Val131_Arg153del) n.415_483del n.841_909del c.271_339del (n.271_339del) c.291_359del n.600_668del | ClinVar dbSNP |
| 1 | g.42930724C>A | CA339960775 | SLC2A1 | c.418G>T (p.Val140Leu) n.441G>T n.867G>T c.322G>T (p.Val108Leu) c.297G>T (n.297G>T) c.317G>T n.626G>T | |
| 1 | g.42930724C= | CA1165412773 | SLC2A1 | c.418G= (p.Val140=) n.441G= n.867G= c.322G= (p.Val108=) c.297G= (n.297G=) c.317G= n.626G= | |
| 1 | g.42930724C>G | CA339960777 | SLC2A1 | c.418G>C (p.Val140Leu) n.441G>C n.867G>C c.322G>C (p.Val108Leu) c.297G>C (n.297G>C) c.317G>C n.626G>C | ClinVar dbSNP |
| 1 | g.42930724C>T | CA16042396 | SLC2A1 | c.418G>A (p.Val140Met) n.441G>A n.867G>A c.322G>A (p.Val108Met) c.297G>A (n.297G>A) c.317G>A n.626G>A | ClinVar dbSNP gnomAD v4 |
| 1 | g.42930725del | CA2580062839 | SLC2A1 | c.417del (p.Phe139LeufsTer?) n.440del n.866del c.321del (p.Phe107LeufsTer?) c.296del (n.296del) c.316del n.625del | ClinVar |
| 1 | g.42930725G>A | CA019185 | SLC2A1 | c.417C>T (p.Phe139=) n.440C>T n.866C>T c.321C>T (p.Phe107=) c.296C>T (n.296C>T) c.316C>T n.625C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.42930725G>C | CA339960781 | SLC2A1 | c.417C>G (p.Phe139Leu) n.440C>G n.866C>G c.321C>G (p.Phe107Leu) c.296C>G (n.296C>G) c.316C>G n.625C>G | |
| 1 | g.42930725G= | CA1141997595 | SLC2A1 | c.417C= (p.Phe139=) n.440C= n.866C= c.321C= (p.Phe107=) c.296C= (n.296C=) c.316C= n.625C= | |
| 1 | g.42930725G>T | CA339960783 | SLC2A1 | c.417C>A (p.Phe139Leu) n.440C>A n.866C>A c.321C>A (p.Phe107Leu) c.296C>A (n.296C>A) c.316C>A n.625C>A | |
| 1 | g.42930726A>C | CA339960785 | SLC2A1 | c.416T>G (p.Phe139Cys) n.439T>G n.865T>G c.320T>G (p.Phe107Cys) c.295T>G (n.295T>G) c.315T>G n.624T>G | |
| 1 | g.42930726A>G | CA339960787 | SLC2A1 | c.416T>C (p.Phe139Ser) n.439T>C n.865T>C c.320T>C (p.Phe107Ser) c.295T>C (n.295T>C) c.315T>C n.624T>C | |
| 1 | g.42930726A>T | CA339960789 | SLC2A1 | c.416T>A (p.Phe139Tyr) n.439T>A n.865T>A c.320T>A (p.Phe107Tyr) c.295T>A (n.295T>A) c.315T>A n.624T>A | |
| 1 | g.42930727A>C | CA339960792 | SLC2A1 | c.415T>G (p.Phe139Val) n.438T>G n.864T>G c.319T>G (p.Phe107Val) c.294T>G (n.294T>G) c.314T>G n.623T>G | |
| 1 | g.42930727A>G | CA339960794 | SLC2A1 | c.415T>C (p.Phe139Leu) n.438T>C n.864T>C c.319T>C (p.Phe107Leu) c.294T>C (n.294T>C) c.314T>C n.623T>C | gnomAD v4 |
| 1 | g.42930727A>T | CA339960795 | SLC2A1 | c.415T>A (p.Phe139Ile) n.438T>A n.864T>A c.319T>A (p.Phe107Ile) c.294T>A (n.294T>A) c.314T>A n.623T>A | |
| 1 | g.42930728G>A | CA417543778 | SLC2A1 | c.414C>T (p.Gly138=) n.437C>T n.863C>T c.318C>T (p.Gly106=) c.293C>T (n.293C>T) c.313C>T n.622C>T | gnomAD v4 |
| 1 | g.42930728G>C | CA417543779 | SLC2A1 | c.414C>G (p.Gly138=) n.437C>G n.863C>G c.318C>G (p.Gly106=) c.293C>G (n.293C>G) c.313C>G n.622C>G | |
| 1 | g.42930728G>T | CA417543780 | SLC2A1 | c.414C>A (p.Gly138=) n.437C>A n.863C>A c.318C>A (p.Gly106=) c.293C>A (n.293C>A) c.313C>A n.622C>A | gnomAD v4 |
| 1 | g.42930729C>A | CA339960797 | SLC2A1 | c.413G>T (p.Gly138Val) n.436G>T n.862G>T c.317G>T (p.Gly106Val) c.292G>T (n.292G>T) c.312G>T n.621G>T | |
| 1 | g.42930729C>G | CA339960798 | SLC2A1 | c.413G>C (p.Gly138Ala) n.436G>C n.862G>C c.317G>C (p.Gly106Ala) c.292G>C (n.292G>C) c.312G>C n.621G>C | |
| 1 | g.42930729C>T | CA339960801 | SLC2A1 | c.413G>A (p.Gly138Asp) n.436G>A n.862G>A c.317G>A (p.Gly106Asp) c.292G>A (n.292G>A) c.312G>A n.621G>A | |
| 1 | g.42930730C>A | CA339960808 | SLC2A1 | c.412G>T (p.Gly138Cys) n.435G>T n.861G>T c.316G>T (p.Gly106Cys) c.291G>T (n.291G>T) c.311G>T n.620G>T | |
| 1 | g.42930730C>G | CA339960803 | SLC2A1 | c.412G>C (p.Gly138Arg) n.435G>C n.861G>C c.316G>C (p.Gly106Arg) c.291G>C (n.291G>C) c.311G>C n.620G>C | |
| 1 | g.42930730C>T | CA339960806 | SLC2A1 | c.412G>A (p.Gly138Ser) n.435G>A n.861G>A c.316G>A (p.Gly106Ser) c.291G>A (n.291G>A) c.311G>A n.620G>A | |
| 1 | g.42930730_42930732delinsCTG | CA1165412774 | SLC2A1 | c.410_412delinsCAG (p.Thr137=) n.433_435delinsCAG n.859_861delinsCAG c.314_316delinsCAG (p.Thr105=) c.289_291delinsCAG (n.289_291delinsCAG) c.309_311delinsCAG n.618_620delinsCAG | |
| 1 | g.42930731T>A | CA417543787 | SLC2A1 | c.411A>T (p.Thr137=) n.434A>T n.860A>T c.315A>T (p.Thr105=) c.290A>T (n.290A>T) c.310A>T n.619A>T | |
| 1 | g.42930731T>C | CA803545 | SLC2A1 | c.411A>G (p.Thr137=) n.434A>G n.860A>G c.315A>G (p.Thr105=) c.290A>G (n.290A>G) c.310A>G n.619A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.42930731T>G | CA417543789 | SLC2A1 | c.411A>C (p.Thr137=) n.434A>C n.860A>C c.315A>C (p.Thr105=) c.290A>C (n.290A>C) c.310A>C n.619A>C | |
| 1 | g.42930731T= | CA1165412775 | SLC2A1 | c.411A= (p.Thr137=) n.434A= n.860A= c.315A= (p.Thr105=) c.290A= (n.290A=) c.310A= n.619A= | |
| 1 | g.42930733_42930734del | CA915941232 | SLC2A1 | c.410_411del (p.Thr137ArgfsTer9) n.433_434del n.859_860del c.314_315del (p.Thr105ArgfsTer9) c.289_290del (n.289_290del) c.309_310del n.618_619del | ClinVar dbSNP |
| 1 | g.42930732G>A | CA339960812 | SLC2A1 | c.410C>T (p.Thr137Ile) n.433C>T n.859C>T c.314C>T (p.Thr105Ile) c.289C>T (n.289C>T) c.309C>T n.618C>T | |
| 1 | g.42930732G>C | CA339960815 | SLC2A1 | c.410C>G (p.Thr137Arg) n.433C>G n.859C>G c.314C>G (p.Thr105Arg) c.289C>G (n.289C>G) c.309C>G n.618C>G | |
| 1 | g.42930732G>T | CA339960817 | SLC2A1 | c.410C>A (p.Thr137Lys) n.433C>A n.859C>A c.314C>A (p.Thr105Lys) c.289C>A (n.289C>A) c.309C>A n.618C>A | gnomAD v4 |
| 1 | g.42930733T>A | CA339960820 | SLC2A1 | c.409A>T (p.Thr137Ser) n.432A>T n.858A>T c.313A>T (p.Thr105Ser) c.288A>T (n.288A>T) c.308A>T n.617A>T | |
| 1 | g.42930733T>C | CA339960822 | SLC2A1 | c.409A>G (p.Thr137Ala) n.432A>G n.858A>G c.313A>G (p.Thr105Ala) c.288A>G (n.288A>G) c.308A>G n.617A>G | |
| 1 | g.42930733T>G | CA339960824 | SLC2A1 | c.409A>C (p.Thr137Pro) n.432A>C n.858A>C c.313A>C (p.Thr105Pro) c.288A>C (n.288A>C) c.308A>C n.617A>C | |
| 1 | g.42930734G>A | CA417543794 | SLC2A1 | c.408C>T (p.Thr136=) n.431C>T n.857C>T c.312C>T (p.Thr104=) c.287C>T (n.287C>T) c.307C>T n.616C>T | dbSNP |
| 1 | g.42930734G>C | CA417543796 | SLC2A1 | c.408C>G (p.Thr136=) n.431C>G n.857C>G c.312C>G (p.Thr104=) c.287C>G (n.287C>G) c.307C>G n.616C>G | |
| 1 | g.42930734G= | CA1165412776 | SLC2A1 | c.408C= (p.Thr136=) n.431C= n.857C= c.312C= (p.Thr104=) c.287C= (n.287C=) c.307C= n.616C= | |
| 1 | g.42930734G>T | CA417543798 | SLC2A1 | c.408C>A (p.Thr136=) n.431C>A n.857C>A c.312C>A (p.Thr104=) c.287C>A (n.287C>A) c.307C>A n.616C>A | |
| 1 | g.42930735G>A | CA339960827 | SLC2A1 | c.407C>T (p.Thr136Ile) n.430C>T n.856C>T c.311C>T (p.Thr104Ile) c.286C>T (n.286C>T) c.306C>T n.615C>T | |
| 1 | g.42930735G>C | CA339960829 | SLC2A1 | c.407C>G (p.Thr136Ser) n.430C>G n.856C>G c.311C>G (p.Thr104Ser) c.286C>G (n.286C>G) c.306C>G n.615C>G | |
| 1 | g.42930735G>T | CA339960831 | SLC2A1 | c.407C>A (p.Thr136Asn) n.430C>A n.856C>A c.311C>A (p.Thr104Asn) c.286C>A (n.286C>A) c.306C>A n.615C>A | gnomAD v4 |
| 1 | g.42930736T>A | CA339960834 | SLC2A1 | c.406A>T (p.Thr136Ser) n.429A>T n.855A>T c.310A>T (p.Thr104Ser) c.285A>T (n.285A>T) c.305A>T n.614A>T | |
| 1 | g.42930736T>C | CA339960836 | SLC2A1 | c.406A>G (p.Thr136Ala) n.429A>G n.855A>G c.310A>G (p.Thr104Ala) c.285A>G (n.285A>G) c.305A>G n.614A>G | |
| 1 | g.42930736T>G | CA339960838 | SLC2A1 | c.406A>C (p.Thr136Pro) n.429A>C n.855A>C c.310A>C (p.Thr104Pro) c.285A>C (n.285A>C) c.305A>C n.614A>C | |
| 1 | g.42930737C>A | CA417543803 | SLC2A1 | c.405G>T (p.Leu135=) n.428G>T n.854G>T c.309G>T (p.Leu103=) c.284G>T (n.284G>T) c.304G>T n.613G>T | |
| 1 | g.42930737C= | CA1165412777 | SLC2A1 | c.405G= (p.Leu135=) n.428G= n.854G= c.309G= (p.Leu103=) c.284G= (n.284G=) c.304G= n.613G= |