| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.46725379_46725868delinsC | CA2697547414 | SLC2A10 | c.343_832delinsC (p.Ser115_Ala278delinsPro) c.406_895delinsC (p.Ser136_Ala299delinsPro) c.352_841delinsC (p.Ser118_Ala281delinsPro) n.542_1031delinsC n.529_1018delinsC | ClinVar |
| 20 | g.46725416T>A | CA409266900 | SLC2A10 | c.380T>A (p.Val127Glu) n.532T>A c.443T>A (p.Val148Glu) c.389T>A (p.Val130Glu) n.579T>A n.566T>A | |
| 20 | g.46725416T>C | CA409266901 | SLC2A10 | c.380T>C (p.Val127Ala) n.532T>C c.443T>C (p.Val148Ala) c.389T>C (p.Val130Ala) n.579T>C n.566T>C | |
| 20 | g.46725416T>G | CA409266902 | SLC2A10 | c.380T>G (p.Val127Gly) n.532T>G c.443T>G (p.Val148Gly) c.389T>G (p.Val130Gly) n.579T>G n.566T>G | |
| 20 | g.46725417G>A | CA9891966 | SLC2A10 | c.381G>A (p.Val127=) n.533G>A c.444G>A (p.Val148=) c.390G>A (p.Val130=) n.580G>A n.567G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.46725417G>C | CA510847590 | SLC2A10 | c.381G>C (p.Val127=) n.533G>C c.444G>C (p.Val148=) c.390G>C (p.Val130=) n.580G>C n.567G>C | |
| 20 | g.46725417G= | CA2366796193 | SLC2A10 | c.381G= (p.Val127=) n.533G= c.444G= (p.Val148=) c.390G= (p.Val130=) n.580G= n.567G= | |
| 20 | g.46725417G>T | CA510847591 | SLC2A10 | c.381G>T (p.Val127=) n.533G>T c.444G>T (p.Val148=) c.390G>T (p.Val130=) n.580G>T n.567G>T | dbSNP |
| 20 | g.46725418G>A | CA9891967 | SLC2A10 | c.382G>A (p.Gly128Arg) n.534G>A c.445G>A (p.Gly149Arg) c.391G>A (p.Gly131Arg) n.581G>A n.568G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.46725418G>C | CA409266903 | SLC2A10 | c.382G>C (p.Gly128Arg) n.534G>C c.445G>C (p.Gly149Arg) c.391G>C (p.Gly131Arg) n.581G>C n.568G>C | gnomAD v4 |
| 20 | g.46725418G= | CA2366796194 | SLC2A10 | c.382G= (p.Gly128=) n.534G= c.445G= (p.Gly149=) c.391G= (p.Gly131=) n.581G= n.568G= | |
| 20 | g.46725418G>T | CA409266904 | SLC2A10 | c.382G>T (p.Gly128Trp) n.534G>T c.445G>T (p.Gly149Trp) c.391G>T (p.Gly131Trp) n.581G>T n.568G>T | |
| 20 | g.46725419G>A | CA409266905 | SLC2A10 | c.383G>A (p.Gly128Glu) n.535G>A c.446G>A (p.Gly149Glu) c.392G>A (p.Gly131Glu) n.582G>A n.569G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.46725419G>C | CA409266906 | SLC2A10 | c.383G>C (p.Gly128Ala) n.535G>C c.446G>C (p.Gly149Ala) c.392G>C (p.Gly131Ala) n.582G>C n.569G>C | gnomAD v4 |
| 20 | g.46725419G= | CA2366796195 | SLC2A10 | c.383G= (p.Gly128=) n.535G= c.446G= (p.Gly149=) c.392G= (p.Gly131=) n.582G= n.569G= | |
| 20 | g.46725419G>T | CA409266907 | SLC2A10 | c.383G>T (p.Gly128Val) n.535G>T c.446G>T (p.Gly149Val) c.392G>T (p.Gly131Val) n.582G>T n.569G>T | gnomAD v4 |
| 20 | g.46725420G>A | CA510847592 | SLC2A10 | c.384G>A (p.Gly128=) n.536G>A c.447G>A (p.Gly149=) c.393G>A (p.Gly131=) n.583G>A n.570G>A | dbSNP gnomAD v4 |
| 20 | g.46725420G>C | CA510847594 | SLC2A10 | c.384G>C (p.Gly128=) n.536G>C c.447G>C (p.Gly149=) c.393G>C (p.Gly131=) n.583G>C n.570G>C | |
| 20 | g.46725420G= | CA2366796196 | SLC2A10 | c.384G= (p.Gly128=) n.536G= c.447G= (p.Gly149=) c.393G= (p.Gly131=) n.583G= n.570G= | |
| 20 | g.46725420G>T | CA510847593 | SLC2A10 | c.384G>T (p.Gly128=) n.536G>T c.447G>T (p.Gly149=) c.393G>T (p.Gly131=) n.583G>T n.570G>T | |
| 20 | g.46725421C>A | CA409266908 | SLC2A10 | c.385C>A (p.Pro129Thr) n.537C>A c.448C>A (p.Pro150Thr) c.394C>A (p.Pro132Thr) n.584C>A n.571C>A | gnomAD v4 |
| 20 | g.46725421C>G | CA409266910 | SLC2A10 | c.385C>G (p.Pro129Ala) n.537C>G c.448C>G (p.Pro150Ala) c.394C>G (p.Pro132Ala) n.584C>G n.571C>G | |
| 20 | g.46725421C>T | CA409266909 | SLC2A10 | c.385C>T (p.Pro129Ser) n.537C>T c.448C>T (p.Pro150Ser) c.394C>T (p.Pro132Ser) n.584C>T n.571C>T | |
| 20 | g.46725422C>A | CA409266911 | SLC2A10 | c.386C>A (p.Pro129Gln) n.538C>A c.449C>A (p.Pro150Gln) c.395C>A (p.Pro132Gln) n.585C>A n.572C>A | gnomAD v4 |
| 20 | g.46725422C= | CA2366796197 | SLC2A10 | c.386C= (p.Pro129=) n.538C= c.449C= (p.Pro150=) c.395C= (p.Pro132=) n.585C= n.572C= | |
| 20 | g.46725422C>G | CA409266913 | SLC2A10 | c.386C>G (p.Pro129Arg) n.538C>G c.449C>G (p.Pro150Arg) c.395C>G (p.Pro132Arg) n.585C>G n.572C>G | |
| 20 | g.46725422C>T | CA409266912 | SLC2A10 | c.386C>T (p.Pro129Leu) n.538C>T c.449C>T (p.Pro150Leu) c.395C>T (p.Pro132Leu) n.585C>T n.572C>T | dbSNP gnomAD v4 |
| 20 | g.46725423A>C | CA510847595 | SLC2A10 | c.387A>C (p.Pro129=) n.539A>C c.450A>C (p.Pro150=) c.396A>C (p.Pro132=) n.586A>C n.573A>C | |
| 20 | g.46725423A>G | CA510847596 | SLC2A10 | c.387A>G (p.Pro129=) n.539A>G c.450A>G (p.Pro150=) c.396A>G (p.Pro132=) n.586A>G n.573A>G | gnomAD v4 |
| 20 | g.46725423A>T | CA510847597 | SLC2A10 | c.387A>T (p.Pro129=) n.539A>T c.450A>T (p.Pro150=) c.396A>T (p.Pro132=) n.586A>T n.573A>T | |
| 20 | g.46725424C>A | CA510847598 | SLC2A10 | c.388C>A (p.Arg130=) n.540C>A c.451C>A (p.Arg151=) c.397C>A (p.Arg133=) n.587C>A n.574C>A | dbSNP |
| 20 | g.46725424C= | CA2366796198 | SLC2A10 | c.388C= (p.Arg130=) n.540C= c.451C= (p.Arg151=) c.397C= (p.Arg133=) n.587C= n.574C= | |
| 20 | g.46725424C>G | CA409266914 | SLC2A10 | c.388C>G (p.Arg130Gly) n.540C>G c.451C>G (p.Arg151Gly) c.397C>G (p.Arg133Gly) n.587C>G n.574C>G | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.46725424C>T | CA9891968 | SLC2A10 | c.388C>T (p.Arg130Trp) n.540C>T c.451C>T (p.Arg151Trp) c.397C>T (p.Arg133Trp) n.587C>T n.574C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.46725425G>A | CA409266915 | SLC2A10 | c.389G>A (p.Arg130Gln) n.541G>A c.452G>A (p.Arg151Gln) c.398G>A (p.Arg133Gln) n.588G>A n.575G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.46725425G>C | CA409266916 | SLC2A10 | c.389G>C (p.Arg130Pro) n.541G>C c.452G>C (p.Arg151Pro) c.398G>C (p.Arg133Pro) n.588G>C n.575G>C | |
| 20 | g.46725425G= | CA2366796199 | SLC2A10 | c.389G= (p.Arg130=) n.541G= c.452G= (p.Arg151=) c.398G= (p.Arg133=) n.588G= n.575G= | |
| 20 | g.46725425G>T | CA409266917 | SLC2A10 | c.389G>T (p.Arg130Leu) n.541G>T c.452G>T (p.Arg151Leu) c.398G>T (p.Arg133Leu) n.588G>T n.575G>T | COSMIC |
| 20 | g.46725426G>A | CA510847599 | SLC2A10 | c.390G>A (p.Arg130=) n.542G>A c.453G>A (p.Arg151=) c.399G>A (p.Arg133=) n.589G>A n.576G>A | |
| 20 | g.46725426G>C | CA510847600 | SLC2A10 | c.390G>C (p.Arg130=) n.542G>C c.453G>C (p.Arg151=) c.399G>C (p.Arg133=) n.589G>C n.576G>C | |
| 20 | g.46725426G>T | CA510847601 | SLC2A10 | c.390G>T (p.Arg130=) n.542G>T c.453G>T (p.Arg151=) c.399G>T (p.Arg133=) n.589G>T n.576G>T | |
| 20 | g.46725427C>A | CA409266918 | SLC2A10 | c.391C>A (p.Gln131Lys) n.543C>A c.454C>A (p.Gln152Lys) c.400C>A (p.Gln134Lys) n.590C>A n.577C>A | |
| 20 | g.46725427C= | CA2366796200 | SLC2A10 | c.391C= (p.Gln131=) n.543C= c.454C= (p.Gln152=) c.400C= (p.Gln134=) n.590C= n.577C= | |
| 20 | g.46725427C>G | CA409266919 | SLC2A10 | c.391C>G (p.Gln131Glu) n.543C>G c.454C>G (p.Gln152Glu) c.400C>G (p.Gln134Glu) n.590C>G n.577C>G | |
| 20 | g.46725427C>T | CA409266920 | SLC2A10 | c.391C>T (p.Gln131Ter) n.543C>T c.454C>T (p.Gln152Ter) c.400C>T (p.Gln134Ter) n.590C>T n.577C>T | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.46725428A>C | CA409266921 | SLC2A10 | c.392A>C (p.Gln131Pro) n.544A>C c.455A>C (p.Gln152Pro) c.401A>C (p.Gln134Pro) n.591A>C n.578A>C | |
| 20 | g.46725428A>G | CA409266922 | SLC2A10 | c.392A>G (p.Gln131Arg) n.544A>G c.455A>G (p.Gln152Arg) c.401A>G (p.Gln134Arg) n.591A>G n.578A>G | |
| 20 | g.46725428A>T | CA409266923 | SLC2A10 | c.392A>T (p.Gln131Leu) n.544A>T c.455A>T (p.Gln152Leu) c.401A>T (p.Gln134Leu) n.591A>T n.578A>T | |
| 20 | g.46725429G>A | CA510847602 | SLC2A10 | c.393G>A (p.Gln131=) n.545G>A c.456G>A (p.Gln152=) c.402G>A (p.Gln134=) n.592G>A n.579G>A | |
| 20 | g.46725429G>C | CA409266925 | SLC2A10 | c.393G>C (p.Gln131His) n.545G>C c.456G>C (p.Gln152His) c.402G>C (p.Gln134His) n.592G>C n.579G>C | |
| 20 | g.46725429G>T | CA409266924 | SLC2A10 | c.393G>T (p.Gln131His) n.545G>T c.456G>T (p.Gln152His) c.402G>T (p.Gln134His) n.592G>T n.579G>T | gnomAD v4 |
| 20 | g.46725430C>A | CA510847603 | SLC2A10 | c.394C>A (p.Arg132=) n.546C>A c.457C>A (p.Arg153=) c.403C>A (p.Arg135=) n.593C>A n.580C>A | |
| 20 | g.46725430C= | CA2366796201 | SLC2A10 | c.394C= (p.Arg132=) n.546C= c.457C= (p.Arg153=) c.403C= (p.Arg135=) n.593C= n.580C= | |
| 20 | g.46725430C>G | CA409266926 | SLC2A10 | c.394C>G (p.Arg132Gly) n.546C>G c.457C>G (p.Arg153Gly) c.403C>G (p.Arg135Gly) n.593C>G n.580C>G | |
| 20 | g.46725430C>T | CA340267 | SLC2A10 | c.394C>T (p.Arg132Trp) n.546C>T c.457C>T (p.Arg153Trp) c.403C>T (p.Arg135Trp) n.593C>T n.580C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.46725431G>A | CA9891969 | SLC2A10 | c.395G>A (p.Arg132Gln) n.547G>A c.458G>A (p.Arg153Gln) c.404G>A (p.Arg135Gln) n.594G>A n.581G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.46725431G>C | CA409266927 | SLC2A10 | c.395G>C (p.Arg132Pro) n.547G>C c.458G>C (p.Arg153Pro) c.404G>C (p.Arg135Pro) n.594G>C n.581G>C | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.46725431G= | CA2366796202 | SLC2A10 | c.395G= (p.Arg132=) n.547G= c.458G= (p.Arg153=) c.404G= (p.Arg135=) n.594G= n.581G= | |
| 20 | g.46725431G>T | CA409266928 | SLC2A10 | c.395G>T (p.Arg132Leu) n.547G>T c.458G>T (p.Arg153Leu) c.404G>T (p.Arg135Leu) n.594G>T n.581G>T | ClinVar dbSNP |
| 20 | g.46725432G>A | CA510847604 | SLC2A10 | c.396G>A (p.Arg132=) n.548G>A c.459G>A (p.Arg153=) c.405G>A (p.Arg135=) n.595G>A n.582G>A | |
| 20 | g.46725432G>C | CA510847605 | SLC2A10 | c.396G>C (p.Arg132=) n.548G>C c.459G>C (p.Arg153=) c.405G>C (p.Arg135=) n.595G>C n.582G>C | |
| 20 | g.46725432G>T | CA510847606 | SLC2A10 | c.396G>T (p.Arg132=) n.548G>T c.459G>T (p.Arg153=) c.405G>T (p.Arg135=) n.595G>T n.582G>T | |
| 20 | g.46725433G>A | CA409266929 | SLC2A10 | c.397G>A (p.Gly133Arg) n.549G>A c.460G>A (p.Gly154Arg) c.406G>A (p.Gly136Arg) n.596G>A n.583G>A | ClinVar dbSNP COSMIC |
| 20 | g.46725433G>C | CA409266930 | SLC2A10 | c.397G>C (p.Gly133Arg) n.549G>C c.460G>C (p.Gly154Arg) c.406G>C (p.Gly136Arg) n.596G>C n.583G>C | |
| 20 | g.46725433G= | CA2366796203 | SLC2A10 | c.397G= (p.Gly133=) n.549G= c.460G= (p.Gly154=) c.406G= (p.Gly136=) n.596G= n.583G= | |
| 20 | g.46725433G>T | CA409266931 | SLC2A10 | c.397G>T (p.Gly133Ter) n.549G>T c.460G>T (p.Gly154Ter) c.406G>T (p.Gly136Ter) n.596G>T n.583G>T | |
| 20 | g.46725434G>A | CA409266932 | SLC2A10 | c.398G>A (p.Gly133Glu) n.550G>A c.461G>A (p.Gly154Glu) c.407G>A (p.Gly136Glu) n.597G>A n.584G>A | |
| 20 | g.46725434G>C | CA409266933 | SLC2A10 | c.398G>C (p.Gly133Ala) n.550G>C c.461G>C (p.Gly154Ala) c.407G>C (p.Gly136Ala) n.597G>C n.584G>C | |
| 20 | g.46725434G>T | CA409266934 | SLC2A10 | c.398G>T (p.Gly133Val) n.550G>T c.461G>T (p.Gly154Val) c.407G>T (p.Gly136Val) n.597G>T n.584G>T | |
| 20 | g.46725435A>C | CA510847607 | SLC2A10 | c.399A>C (p.Gly133=) n.551A>C c.462A>C (p.Gly154=) c.408A>C (p.Gly136=) n.598A>C n.585A>C | |
| 20 | g.46725435A>G | CA510847608 | SLC2A10 | c.399A>G (p.Gly133=) n.551A>G c.462A>G (p.Gly154=) c.408A>G (p.Gly136=) n.598A>G n.585A>G | |
| 20 | g.46725435A>T | CA510847609 | SLC2A10 | c.399A>T (p.Gly133=) n.551A>T c.462A>T (p.Gly154=) c.408A>T (p.Gly136=) n.598A>T n.585A>T | |
| 20 | g.46725436G>A | CA409266936 | SLC2A10 | c.400G>A (p.Val134Met) n.552G>A c.463G>A (p.Val155Met) c.409G>A (p.Val137Met) n.599G>A n.586G>A | |
| 20 | g.46725436G>C | CA409266937 | SLC2A10 | c.400G>C (p.Val134Leu) n.552G>C c.463G>C (p.Val155Leu) c.409G>C (p.Val137Leu) n.599G>C n.586G>C | |
| 20 | g.46725436G>T | CA409266935 | SLC2A10 | c.400G>T (p.Val134Leu) n.552G>T c.463G>T (p.Val155Leu) c.409G>T (p.Val137Leu) n.599G>T n.586G>T | |
| 20 | g.46725437T>A | CA409266938 | SLC2A10 | c.401T>A (p.Val134Glu) n.553T>A c.464T>A (p.Val155Glu) c.410T>A (p.Val137Glu) n.600T>A n.587T>A | |
| 20 | g.46725437T>C | CA409266939 | SLC2A10 | c.401T>C (p.Val134Ala) n.553T>C c.464T>C (p.Val155Ala) c.410T>C (p.Val137Ala) n.600T>C n.587T>C | |
| 20 | g.46725437T>G | CA409266940 | SLC2A10 | c.401T>G (p.Val134Gly) n.553T>G c.464T>G (p.Val155Gly) c.410T>G (p.Val137Gly) n.600T>G n.587T>G | gnomAD v4 |
| 20 | g.46725438G>A | CA510847610 | SLC2A10 | c.402G>A (p.Val134=) n.554G>A c.465G>A (p.Val155=) c.411G>A (p.Val137=) n.601G>A n.588G>A | COSMIC |
| 20 | g.46725438G>C | CA510847611 | SLC2A10 | c.402G>C (p.Val134=) n.554G>C c.465G>C (p.Val155=) c.411G>C (p.Val137=) n.601G>C n.588G>C | |
| 20 | g.46725438G>T | CA510847612 | SLC2A10 | c.402G>T (p.Val134=) n.554G>T c.465G>T (p.Val155=) c.411G>T (p.Val137=) n.601G>T n.588G>T | |
| 20 | g.46725439C>A | CA409266941 | SLC2A10 | c.403C>A (p.Leu135Met) n.555C>A c.466C>A (p.Leu156Met) c.412C>A (p.Leu138Met) n.602C>A n.589C>A | |
| 20 | g.46725439C= | CA2366796204 | SLC2A10 | c.403C= (p.Leu135=) n.555C= c.466C= (p.Leu156=) c.412C= (p.Leu138=) n.602C= n.589C= | |
| 20 | g.46725439C>G | CA409266942 | SLC2A10 | c.403C>G (p.Leu135Val) n.555C>G c.466C>G (p.Leu156Val) c.412C>G (p.Leu138Val) n.602C>G n.589C>G | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.46725439C>T | CA510847613 | SLC2A10 | c.403C>T (p.Leu135=) n.555C>T c.466C>T (p.Leu156=) c.412C>T (p.Leu138=) n.602C>T n.589C>T | dbSNP |
| 20 | g.46725440T>A | CA409266945 | SLC2A10 | c.404T>A (p.Leu135Gln) n.556T>A c.467T>A (p.Leu156Gln) c.413T>A (p.Leu138Gln) n.603T>A n.590T>A | |
| 20 | g.46725440T>C | CA409266944 | SLC2A10 | c.404T>C (p.Leu135Pro) n.556T>C c.467T>C (p.Leu156Pro) c.413T>C (p.Leu138Pro) n.603T>C n.590T>C | |
| 20 | g.46725440T>G | CA409266943 | SLC2A10 | c.404T>G (p.Leu135Arg) n.556T>G c.467T>G (p.Leu156Arg) c.413T>G (p.Leu138Arg) n.603T>G n.590T>G | |
| 20 | g.46725441G>A | CA510847614 | SLC2A10 | c.405G>A (p.Leu135=) n.557G>A c.468G>A (p.Leu156=) c.414G>A (p.Leu138=) n.604G>A n.591G>A | gnomAD v4 |
| 20 | g.46725441G>C | CA510847616 | SLC2A10 | c.405G>C (p.Leu135=) n.557G>C c.468G>C (p.Leu156=) c.414G>C (p.Leu138=) n.604G>C n.591G>C | |
| 20 | g.46725441G>T | CA510847615 | SLC2A10 | c.405G>T (p.Leu135=) n.557G>T c.468G>T (p.Leu156=) c.414G>T (p.Leu138=) n.604G>T n.591G>T | dbSNP |
| 20 | g.46725442G>A | CA409266946 | SLC2A10 | c.406G>A (p.Val136Met) n.558G>A c.469G>A (p.Val157Met) c.415G>A (p.Val139Met) n.605G>A n.592G>A | |
| 20 | g.46725442G>C | CA409266947 | SLC2A10 | c.406G>C (p.Val136Leu) n.558G>C c.469G>C (p.Val157Leu) c.415G>C (p.Val139Leu) n.605G>C n.592G>C | dbSNP |
| 20 | g.46725442G= | CA2366796205 | SLC2A10 | c.406G= (p.Val136=) n.558G= c.469G= (p.Val157=) c.415G= (p.Val139=) n.605G= n.592G= | |
| 20 | g.46725442G>T | CA409266948 | SLC2A10 | c.406G>T (p.Val136Leu) n.558G>T c.469G>T (p.Val157Leu) c.415G>T (p.Val139Leu) n.605G>T n.592G>T | gnomAD v4 |
| 20 | g.46725443T>A | CA409266949 | SLC2A10 | c.407T>A (p.Val136Glu) n.559T>A c.470T>A (p.Val157Glu) c.416T>A (p.Val139Glu) n.606T>A n.593T>A | |
| 20 | g.46725443T>C | CA409266950 | SLC2A10 | c.407T>C (p.Val136Ala) n.559T>C c.470T>C (p.Val157Ala) c.416T>C (p.Val139Ala) n.606T>C n.593T>C | |
| 20 | g.46725443T>G | CA409266951 | SLC2A10 | c.407T>G (p.Val136Gly) n.559T>G c.470T>G (p.Val157Gly) c.416T>G (p.Val139Gly) n.606T>G n.593T>G | |
| 20 | g.46725444G>A | CA510847617 | SLC2A10 | c.408G>A (p.Val136=) n.560G>A c.471G>A (p.Val157=) c.417G>A (p.Val139=) n.607G>A n.594G>A | |
| 20 | g.46725444G>C | CA510847618 | SLC2A10 | c.408G>C (p.Val136=) n.560G>C c.471G>C (p.Val157=) c.417G>C (p.Val139=) n.607G>C n.594G>C | |
| 20 | g.46725444G= | CA2366796206 | SLC2A10 | c.408G= (p.Val136=) n.560G= c.471G= (p.Val157=) c.417G= (p.Val139=) n.607G= n.594G= | |
| 20 | g.46725444G>T | CA510847619 | SLC2A10 | c.408G>T (p.Val136=) n.560G>T c.471G>T (p.Val157=) c.417G>T (p.Val139=) n.607G>T n.594G>T | dbSNP gnomAD v4 |
| 20 | g.46725445T>A | CA409266952 | SLC2A10 | c.409T>A (p.Ser137Thr) n.561T>A c.472T>A (p.Ser158Thr) c.418T>A (p.Ser140Thr) n.608T>A n.595T>A | |
| 20 | g.46725445T>C | CA409266954 | SLC2A10 | c.409T>C (p.Ser137Pro) n.561T>C c.472T>C (p.Ser158Pro) c.418T>C (p.Ser140Pro) n.608T>C n.595T>C | |
| 20 | g.46725445T>G | CA409266953 | SLC2A10 | c.409T>G (p.Ser137Ala) n.561T>G c.472T>G (p.Ser158Ala) c.418T>G (p.Ser140Ala) n.608T>G n.595T>G | gnomAD v4 |
| 20 | g.46725446C>A | CA409266955 | SLC2A10 | c.410C>A (p.Ser137Tyr) n.562C>A c.473C>A (p.Ser158Tyr) c.419C>A (p.Ser140Tyr) n.609C>A n.596C>A | |
| 20 | g.46725446C= | CA2366796207 | SLC2A10 | c.410C= (p.Ser137=) n.562C= c.473C= (p.Ser158=) c.419C= (p.Ser140=) n.609C= n.596C= | |
| 20 | g.46725446C>G | CA409266956 | SLC2A10 | c.410C>G (p.Ser137Cys) n.562C>G c.473C>G (p.Ser158Cys) c.419C>G (p.Ser140Cys) n.609C>G n.596C>G | |
| 20 | g.46725446C>T | CA9891970 | SLC2A10 | c.410C>T (p.Ser137Phe) n.562C>T c.473C>T (p.Ser158Phe) c.419C>T (p.Ser140Phe) n.609C>T n.596C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.46725447C>A | CA510847620 | SLC2A10 | c.411C>A (p.Ser137=) n.563C>A c.474C>A (p.Ser158=) c.420C>A (p.Ser140=) n.610C>A n.597C>A | |
| 20 | g.46725447C= | CA2366796208 | SLC2A10 | c.411C= (p.Ser137=) n.563C= c.474C= (p.Ser158=) c.420C= (p.Ser140=) n.610C= n.597C= | |
| 20 | g.46725447C>G | CA510847621 | SLC2A10 | c.411C>G (p.Ser137=) n.563C>G c.474C>G (p.Ser158=) c.420C>G (p.Ser140=) n.610C>G n.597C>G | |
| 20 | g.46725447C>T | CA510847622 | SLC2A10 | c.411C>T (p.Ser137=) n.563C>T c.474C>T (p.Ser158=) c.420C>T (p.Ser140=) n.610C>T n.597C>T | ClinVar dbSNP |
| 20 | g.46725448C>A | CA409266957 | SLC2A10 | c.412C>A (p.Leu138Ile) n.564C>A c.475C>A (p.Leu159Ile) c.421C>A (p.Leu141Ile) n.611C>A n.598C>A | |
| 20 | g.46725448C= | CA2366796209 | SLC2A10 | c.412C= (p.Leu138=) n.564C= c.475C= (p.Leu159=) c.421C= (p.Leu141=) n.611C= n.598C= | |
| 20 | g.46725448C>G | CA315755587 | SLC2A10 | c.412C>G (p.Leu138Val) n.564C>G c.475C>G (p.Leu159Val) c.421C>G (p.Leu141Val) n.611C>G n.598C>G | dbSNP |
| 20 | g.46725448C>T | CA409266958 | SLC2A10 | c.412C>T (p.Leu138Phe) n.564C>T c.475C>T (p.Leu159Phe) c.421C>T (p.Leu141Phe) n.611C>T n.598C>T | |
| 20 | g.46725449T>A | CA409266959 | SLC2A10 | c.413T>A (p.Leu138His) n.565T>A c.476T>A (p.Leu159His) c.422T>A (p.Leu141His) n.612T>A n.599T>A | |
| 20 | g.46725449T>C | CA409266960 | SLC2A10 | c.413T>C (p.Leu138Pro) n.565T>C c.476T>C (p.Leu159Pro) c.422T>C (p.Leu141Pro) n.612T>C n.599T>C | gnomAD v4 |
| 20 | g.46725449T>G | CA409266961 | SLC2A10 | c.413T>G (p.Leu138Arg) n.565T>G c.476T>G (p.Leu159Arg) c.422T>G (p.Leu141Arg) n.612T>G n.599T>G | |
| 20 | g.46725450C>A | CA510847624 | SLC2A10 | c.414C>A (p.Leu138=) n.566C>A c.477C>A (p.Leu159=) c.423C>A (p.Leu141=) n.613C>A n.600C>A | |
| 20 | g.46725450C>G | CA510847625 | SLC2A10 | c.414C>G (p.Leu138=) n.566C>G c.477C>G (p.Leu159=) c.423C>G (p.Leu141=) n.613C>G n.600C>G | |
| 20 | g.46725450C>T | CA510847623 | SLC2A10 | c.414C>T (p.Leu138=) n.566C>T c.477C>T (p.Leu159=) c.423C>T (p.Leu141=) n.613C>T n.600C>T | |
| 20 | g.46725451T>A | CA409266962 | SLC2A10 | c.415T>A (p.Tyr139Asn) n.567T>A c.478T>A (p.Tyr160Asn) c.424T>A (p.Tyr142Asn) n.614T>A n.601T>A | |
| 20 | g.46725451T>C | CA409266963 | SLC2A10 | c.415T>C (p.Tyr139His) n.567T>C c.478T>C (p.Tyr160His) c.424T>C (p.Tyr142His) n.614T>C n.601T>C | |
| 20 | g.46725451T>G | CA409266964 | SLC2A10 | c.415T>G (p.Tyr139Asp) n.567T>G c.478T>G (p.Tyr160Asp) c.424T>G (p.Tyr142Asp) n.614T>G n.601T>G | |
| 20 | g.46725452A= | CA2366796210 | SLC2A10 | c.416A= (p.Tyr139=) n.568A= c.479A= (p.Tyr160=) c.425A= (p.Tyr142=) n.615A= n.602A= | |
| 20 | g.46725452A>C | CA409266966 | SLC2A10 | c.416A>C (p.Tyr139Ser) n.568A>C c.479A>C (p.Tyr160Ser) c.425A>C (p.Tyr142Ser) n.615A>C n.602A>C | |
| 20 | g.46725452A>G | CA325089 | SLC2A10 | c.416A>G (p.Tyr139Cys) n.568A>G c.479A>G (p.Tyr160Cys) c.425A>G (p.Tyr142Cys) n.615A>G n.602A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.46725452A>T | CA409266965 | SLC2A10 | c.416A>T (p.Tyr139Phe) n.568A>T c.479A>T (p.Tyr160Phe) c.425A>T (p.Tyr142Phe) n.615A>T n.602A>T | |
| 20 | g.46725453T>A | CA347716 | SLC2A10 | c.417T>A (p.Tyr139Ter) n.569T>A c.480T>A (p.Tyr160Ter) c.426T>A (p.Tyr142Ter) n.616T>A n.603T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.46725453T>C | CA315755604 | SLC2A10 | c.417T>C (p.Tyr139=) n.569T>C c.480T>C (p.Tyr160=) c.426T>C (p.Tyr142=) n.616T>C n.603T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.46725453T>G | CA409266967 | SLC2A10 | c.417T>G (p.Tyr139Ter) n.569T>G c.480T>G (p.Tyr160Ter) c.426T>G (p.Tyr142Ter) n.616T>G n.603T>G | |
| 20 | g.46725453T= | CA2366796211 | SLC2A10 | c.417T= (p.Tyr139=) n.569T= c.480T= (p.Tyr160=) c.426T= (p.Tyr142=) n.616T= n.603T= | |
| 20 | g.46725454G>A | CA409266968 | SLC2A10 | c.418G>A (p.Glu140Lys) n.570G>A c.481G>A (p.Glu161Lys) c.427G>A (p.Glu143Lys) n.617G>A n.604G>A | gnomAD v4 |
| 20 | g.46725454G>C | CA409266969 | SLC2A10 | c.418G>C (p.Glu140Gln) n.570G>C c.481G>C (p.Glu161Gln) c.427G>C (p.Glu143Gln) n.617G>C n.604G>C | |
| 20 | g.46725454G>T | CA409266970 | SLC2A10 | c.418G>T (p.Glu140Ter) n.570G>T c.481G>T (p.Glu161Ter) c.427G>T (p.Glu143Ter) n.617G>T n.604G>T | |
| 20 | g.46725455A>C | CA409266971 | SLC2A10 | c.419A>C (p.Glu140Ala) n.571A>C c.482A>C (p.Glu161Ala) c.428A>C (p.Glu143Ala) n.618A>C n.605A>C | |
| 20 | g.46725455A>G | CA409266972 | SLC2A10 | c.419A>G (p.Glu140Gly) n.571A>G c.482A>G (p.Glu161Gly) c.428A>G (p.Glu143Gly) n.618A>G n.605A>G | |
| 20 | g.46725455A>T | CA409266973 | SLC2A10 | c.419A>T (p.Glu140Val) n.571A>T c.482A>T (p.Glu161Val) c.428A>T (p.Glu143Val) n.618A>T n.605A>T | |
| 20 | g.46725456G>A | CA510847626 | SLC2A10 | c.420G>A (p.Glu140=) n.572G>A c.483G>A (p.Glu161=) c.429G>A (p.Glu143=) n.619G>A n.606G>A | gnomAD v4 |
| 20 | g.46725456G>C | CA409266974 | SLC2A10 | c.420G>C (p.Glu140Asp) n.572G>C c.483G>C (p.Glu161Asp) c.429G>C (p.Glu143Asp) n.619G>C n.606G>C | |
| 20 | g.46725456G>T | CA409266975 | SLC2A10 | c.420G>T (p.Glu140Asp) n.572G>T c.483G>T (p.Glu161Asp) c.429G>T (p.Glu143Asp) n.619G>T n.606G>T | |
| 20 | g.46725457G>A | CA409266976 | SLC2A10 | c.421G>A (p.Ala141Thr) n.573G>A c.484G>A (p.Ala162Thr) c.430G>A (p.Ala144Thr) n.620G>A n.607G>A | ClinVar dbSNP |
| 20 | g.46725457G>C | CA409266977 | SLC2A10 | c.421G>C (p.Ala141Pro) n.573G>C c.484G>C (p.Ala162Pro) c.430G>C (p.Ala144Pro) n.620G>C n.607G>C | |
| 20 | g.46725457G= | CA2366796212 | SLC2A10 | c.421G= (p.Ala141=) n.573G= c.484G= (p.Ala162=) c.430G= (p.Ala144=) n.620G= n.607G= | |
| 20 | g.46725457G>T | CA9891971 | SLC2A10 | c.421G>T (p.Ala141Ser) n.573G>T c.484G>T (p.Ala162Ser) c.430G>T (p.Ala144Ser) n.620G>T n.607G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.46725458C>A | CA409266980 | SLC2A10 | c.422C>A (p.Ala141Glu) n.574C>A c.485C>A (p.Ala162Glu) c.431C>A (p.Ala144Glu) n.621C>A n.608C>A | |
| 20 | g.46725458C= | CA2366796213 | SLC2A10 | c.422C= (p.Ala141=) n.574C= c.485C= (p.Ala162=) c.431C= (p.Ala144=) n.621C= n.608C= | |
| 20 | g.46725458C>G | CA409266979 | SLC2A10 | c.422C>G (p.Ala141Gly) n.574C>G c.485C>G (p.Ala162Gly) c.431C>G (p.Ala144Gly) n.621C>G n.608C>G | |
| 20 | g.46725458C>T | CA409266978 | SLC2A10 | c.422C>T (p.Ala141Val) n.574C>T c.485C>T (p.Ala162Val) c.431C>T (p.Ala144Val) n.621C>T n.608C>T | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.46725459A>C | CA510847627 | SLC2A10 | c.423A>C (p.Ala141=) n.575A>C c.486A>C (p.Ala162=) c.432A>C (p.Ala144=) n.622A>C n.609A>C | |
| 20 | g.46725459A>G | CA510847628 | SLC2A10 | c.423A>G (p.Ala141=) n.575A>G c.486A>G (p.Ala162=) c.432A>G (p.Ala144=) n.622A>G n.609A>G | |
| 20 | g.46725459A>T | CA510847629 | SLC2A10 | c.423A>T (p.Ala141=) n.575A>T c.486A>T (p.Ala162=) c.432A>T (p.Ala144=) n.622A>T n.609A>T | |
| 20 | g.46725460G>A | CA409266981 | SLC2A10 | c.424G>A (p.Gly142Ser) n.576G>A c.487G>A (p.Gly163Ser) c.433G>A (p.Gly145Ser) n.623G>A n.610G>A | COSMIC |
| 20 | g.46725460G>C | CA409266982 | SLC2A10 | c.424G>C (p.Gly142Arg) n.576G>C c.487G>C (p.Gly163Arg) c.433G>C (p.Gly145Arg) n.623G>C n.610G>C | |
| 20 | g.46725460G>T | CA409266983 | SLC2A10 | c.424G>T (p.Gly142Cys) n.576G>T c.487G>T (p.Gly163Cys) c.433G>T (p.Gly145Cys) n.623G>T n.610G>T | |
| 20 | g.46725461G>A | CA409266984 | SLC2A10 | c.425G>A (p.Gly142Asp) n.577G>A c.488G>A (p.Gly163Asp) c.434G>A (p.Gly145Asp) n.624G>A n.611G>A | |
| 20 | g.46725461G>C | CA409266985 | SLC2A10 | c.425G>C (p.Gly142Ala) n.577G>C c.488G>C (p.Gly163Ala) c.434G>C (p.Gly145Ala) n.624G>C n.611G>C | |
| 20 | g.46725461G= | CA2366796214 | SLC2A10 | c.425G= (p.Gly142=) n.577G= c.488G= (p.Gly163=) c.434G= (p.Gly145=) n.624G= n.611G= | |
| 20 | g.46725461G>T | CA347746 | SLC2A10 | c.425G>T (p.Gly142Val) n.577G>T c.488G>T (p.Gly163Val) c.434G>T (p.Gly145Val) n.624G>T n.611G>T | ClinVar dbSNP |
| 20 | g.46725462C>A | CA510847630 | SLC2A10 | c.426C>A (p.Gly142=) n.578C>A c.489C>A (p.Gly163=) c.435C>A (p.Gly145=) n.625C>A n.612C>A | |
| 20 | g.46725462C= | CA2366796215 | SLC2A10 | c.426C= (p.Gly142=) n.578C= c.489C= (p.Gly163=) c.435C= (p.Gly145=) n.625C= n.612C= | |
| 20 | g.46725462C>G | CA510847631 | SLC2A10 | c.426C>G (p.Gly142=) n.578C>G c.489C>G (p.Gly163=) c.435C>G (p.Gly145=) n.625C>G n.612C>G | |
| 20 | g.46725462C>T | CA9891972 | SLC2A10 | c.426C>T (p.Gly142=) n.578C>T c.489C>T (p.Gly163=) c.435C>T (p.Gly145=) n.625C>T n.612C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.46725463A>C | CA409266986 | SLC2A10 | c.427A>C (p.Ile143Leu) n.579A>C c.490A>C (p.Ile164Leu) c.436A>C (p.Ile146Leu) n.626A>C n.613A>C | |
| 20 | g.46725463A>G | CA409266987 | SLC2A10 | c.427A>G (p.Ile143Val) n.579A>G c.490A>G (p.Ile164Val) c.436A>G (p.Ile146Val) n.626A>G n.613A>G | |
| 20 | g.46725463A>T | CA409266988 | SLC2A10 | c.427A>T (p.Ile143Phe) n.579A>T c.490A>T (p.Ile164Phe) c.436A>T (p.Ile146Phe) n.626A>T n.613A>T | |
| 20 | g.46725464T>A | CA409266989 | SLC2A10 | c.428T>A (p.Ile143Asn) n.580T>A c.491T>A (p.Ile164Asn) c.437T>A (p.Ile146Asn) n.627T>A n.614T>A | |
| 20 | g.46725464T>C | CA409266990 | SLC2A10 | c.428T>C (p.Ile143Thr) n.580T>C c.491T>C (p.Ile164Thr) c.437T>C (p.Ile146Thr) n.627T>C n.614T>C | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.46725464T>G | CA409266991 | SLC2A10 | c.428T>G (p.Ile143Ser) n.580T>G c.491T>G (p.Ile164Ser) c.437T>G (p.Ile146Ser) n.627T>G n.614T>G | |
| 20 | g.46725464T= | CA2366796216 | SLC2A10 | c.428T= (p.Ile143=) n.580T= c.491T= (p.Ile164=) c.437T= (p.Ile146=) n.627T= n.614T= | |
| 20 | g.46725465C>A | CA510847632 | SLC2A10 | c.429C>A (p.Ile143=) n.581C>A c.492C>A (p.Ile164=) c.438C>A (p.Ile146=) n.628C>A n.615C>A | |
| 20 | g.46725465C>G | CA409266992 | SLC2A10 | c.429C>G (p.Ile143Met) n.581C>G c.492C>G (p.Ile164Met) c.438C>G (p.Ile146Met) n.628C>G n.615C>G | |
| 20 | g.46725465C>T | CA510847633 | SLC2A10 | c.429C>T (p.Ile143=) n.581C>T c.492C>T (p.Ile164=) c.438C>T (p.Ile146=) n.628C>T n.615C>T | gnomAD v4 |
| 20 | g.46725466A= | CA2366796217 | SLC2A10 | c.430A= (p.Thr144=) n.582A= c.493A= (p.Thr165=) c.439A= (p.Thr147=) n.629A= n.616A= | |
| 20 | g.46725466A>C | CA409266994 | SLC2A10 | c.430A>C (p.Thr144Pro) n.582A>C c.493A>C (p.Thr165Pro) c.439A>C (p.Thr147Pro) n.629A>C n.616A>C | |
| 20 | g.46725466A>G | CA409266993 | SLC2A10 | c.430A>G (p.Thr144Ala) n.582A>G c.493A>G (p.Thr165Ala) c.439A>G (p.Thr147Ala) n.629A>G n.616A>G | |
| 20 | g.46725466A>T | CA321682 | SLC2A10 | c.430A>T (p.Thr144Ser) n.582A>T c.493A>T (p.Thr165Ser) c.439A>T (p.Thr147Ser) n.629A>T n.616A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.46725467C>A | CA409266995 | SLC2A10 | c.431C>A (p.Thr144Asn) n.583C>A c.494C>A (p.Thr165Asn) c.440C>A (p.Thr147Asn) n.630C>A n.617C>A | dbSNP |
| 20 | g.46725467C= | CA2366796218 | SLC2A10 | c.431C= (p.Thr144=) n.583C= c.494C= (p.Thr165=) c.440C= (p.Thr147=) n.630C= n.617C= | |
| 20 | g.46725467C>G | CA409266996 | SLC2A10 | c.431C>G (p.Thr144Ser) n.583C>G c.494C>G (p.Thr165Ser) c.440C>G (p.Thr147Ser) n.630C>G n.617C>G | |
| 20 | g.46725467C>T | CA9891973 | SLC2A10 | c.431C>T (p.Thr144Ile) n.583C>T c.494C>T (p.Thr165Ile) c.440C>T (p.Thr147Ile) n.630C>T n.617C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.46725468C>A | CA9891975 | SLC2A10 | c.432C>A (p.Thr144=) n.584C>A c.495C>A (p.Thr165=) c.441C>A (p.Thr147=) n.631C>A n.618C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.46725468C= | CA2366796219 | SLC2A10 | c.432C= (p.Thr144=) n.584C= c.495C= (p.Thr165=) c.441C= (p.Thr147=) n.631C= n.618C= | |
| 20 | g.46725468C>G | CA510847634 | SLC2A10 | c.432C>G (p.Thr144=) n.584C>G c.495C>G (p.Thr165=) c.441C>G (p.Thr147=) n.631C>G n.618C>G | dbSNP |
| 20 | g.46725468C>T | CA9891974 | SLC2A10 | c.432C>T (p.Thr144=) n.584C>T c.495C>T (p.Thr165=) c.441C>T (p.Thr147=) n.631C>T n.618C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.46725469G>A | CA9891976 | SLC2A10 | c.433G>A (p.Val145Met) n.585G>A c.496G>A (p.Val166Met) c.442G>A (p.Val148Met) n.632G>A n.619G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.46725469G>C | CA409266998 | SLC2A10 | c.433G>C (p.Val145Leu) n.585G>C c.496G>C (p.Val166Leu) c.442G>C (p.Val148Leu) n.632G>C n.619G>C | |
| 20 | g.46725469G= | CA2366796220 | SLC2A10 | c.433G= (p.Val145=) n.585G= c.496G= (p.Val166=) c.442G= (p.Val148=) n.632G= n.619G= | |
| 20 | g.46725469G>T | CA409266997 | SLC2A10 | c.433G>T (p.Val145Leu) n.585G>T c.496G>T (p.Val166Leu) c.442G>T (p.Val148Leu) n.632G>T n.619G>T | |
| 20 | g.46725470T>A | CA409266999 | SLC2A10 | c.434T>A (p.Val145Glu) n.586T>A c.497T>A (p.Val166Glu) c.443T>A (p.Val148Glu) n.633T>A n.620T>A | |
| 20 | g.46725470T>C | CA315755638 | SLC2A10 | c.434T>C (p.Val145Ala) n.586T>C c.497T>C (p.Val166Ala) c.443T>C (p.Val148Ala) n.633T>C n.620T>C | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.46725470T>G | CA409267000 | SLC2A10 | c.434T>G (p.Val145Gly) n.586T>G c.497T>G (p.Val166Gly) c.443T>G (p.Val148Gly) n.633T>G n.620T>G | |
| 20 | g.46725470T= | CA2366796221 | SLC2A10 | c.434T= (p.Val145=) n.586T= c.497T= (p.Val166=) c.443T= (p.Val148=) n.633T= n.620T= | |
| 20 | g.46725471G>A | CA315755642 | SLC2A10 | c.435G>A (p.Val145=) c.498G>A (p.Val166=) c.444G>A (p.Val148=) n.634G>A n.621G>A | dbSNP |
| 20 | g.46725471G>C | CA510847636 | SLC2A10 | c.435G>C (p.Val145=) c.498G>C (p.Val166=) c.444G>C (p.Val148=) n.634G>C n.621G>C | |
| 20 | g.46725471G= | CA2366796222 | SLC2A10 | c.435G= (p.Val145=) c.498G= (p.Val166=) c.444G= (p.Val148=) n.634G= n.621G= | |
| 20 | g.46725471G>T | CA510847635 | SLC2A10 | c.435G>T (p.Val145=) c.498G>T (p.Val166=) c.444G>T (p.Val148=) n.634G>T n.621G>T | |
| 20 | g.46725472G>A | CA409267001 | SLC2A10 | c.436G>A (p.Gly146Ser) c.499G>A (p.Gly167Ser) c.445G>A (p.Gly149Ser) n.635G>A n.622G>A | |
| 20 | g.46725472G>C | CA409267002 | SLC2A10 | c.436G>C (p.Gly146Arg) c.499G>C (p.Gly167Arg) c.445G>C (p.Gly149Arg) n.635G>C n.622G>C | |
| 20 | g.46725472G>T | CA409267003 | SLC2A10 | c.436G>T (p.Gly146Cys) c.499G>T (p.Gly167Cys) c.445G>T (p.Gly149Cys) n.635G>T n.622G>T | |
| 20 | g.46725473G>A | CA315755648 | SLC2A10 | c.437G>A (p.Gly146Asp) c.500G>A (p.Gly167Asp) c.446G>A (p.Gly149Asp) n.636G>A n.623G>A | dbSNP gnomAD v4 COSMIC |
| 20 | g.46725473G>C | CA409267004 | SLC2A10 | c.437G>C (p.Gly146Ala) c.500G>C (p.Gly167Ala) c.446G>C (p.Gly149Ala) n.636G>C n.623G>C | |
| 20 | g.46725473G= | CA2366796223 | SLC2A10 | c.437G= (p.Gly146=) c.500G= (p.Gly167=) c.446G= (p.Gly149=) n.636G= n.623G= | |
| 20 | g.46725473G>T | CA409267005 | SLC2A10 | c.437G>T (p.Gly146Val) c.500G>T (p.Gly167Val) c.446G>T (p.Gly149Val) n.636G>T n.623G>T | gnomAD v4 |
| 20 | g.46725474C>A | CA510847637 | SLC2A10 | c.438C>A (p.Gly146=) c.501C>A (p.Gly167=) c.447C>A (p.Gly149=) n.637C>A n.624C>A | |
| 20 | g.46725474C>G | CA510847638 | SLC2A10 | c.438C>G (p.Gly146=) c.501C>G (p.Gly167=) c.447C>G (p.Gly149=) n.637C>G n.624C>G | |
| 20 | g.46725474C>T | CA510847639 | SLC2A10 | c.438C>T (p.Gly146=) c.501C>T (p.Gly167=) c.447C>T (p.Gly149=) n.637C>T n.624C>T | gnomAD v4 COSMIC |
| 20 | g.46725475A>C | CA409267006 | SLC2A10 | c.439A>C (p.Ile147Leu) c.502A>C (p.Ile168Leu) c.448A>C (p.Ile150Leu) n.638A>C n.625A>C | |
| 20 | g.46725475A>G | CA409267007 | SLC2A10 | c.439A>G (p.Ile147Val) c.502A>G (p.Ile168Val) c.448A>G (p.Ile150Val) n.638A>G n.625A>G | |
| 20 | g.46725475A>T | CA409267008 | SLC2A10 | c.439A>T (p.Ile147Phe) c.502A>T (p.Ile168Phe) c.448A>T (p.Ile150Phe) n.638A>T n.625A>T | |
| 20 | g.46725476T>A | CA409267009 | SLC2A10 | c.440T>A (p.Ile147Asn) c.503T>A (p.Ile168Asn) c.449T>A (p.Ile150Asn) n.639T>A n.626T>A | |
| 20 | g.46725476T>C | CA409267010 | SLC2A10 | c.440T>C (p.Ile147Thr) c.503T>C (p.Ile168Thr) c.449T>C (p.Ile150Thr) n.639T>C n.626T>C | |
| 20 | g.46725476T>G | CA409267011 | SLC2A10 | c.440T>G (p.Ile147Ser) c.503T>G (p.Ile168Ser) c.449T>G (p.Ile150Ser) n.639T>G n.626T>G | |
| 20 | g.46725477C>A | CA510847640 | SLC2A10 | c.441C>A (p.Ile147=) c.504C>A (p.Ile168=) c.450C>A (p.Ile150=) n.640C>A n.627C>A | |
| 20 | g.46725477C>G | CA409267012 | SLC2A10 | c.441C>G (p.Ile147Met) c.504C>G (p.Ile168Met) c.450C>G (p.Ile150Met) n.640C>G n.627C>G | |
| 20 | g.46725477C>T | CA510847641 | SLC2A10 | c.441C>T (p.Ile147=) c.504C>T (p.Ile168=) c.450C>T (p.Ile150=) n.640C>T n.627C>T | gnomAD v4 COSMIC |
| 20 | g.46725478C>A | CA409267013 | SLC2A10 | c.442C>A (p.Leu148Met) c.505C>A (p.Leu169Met) c.451C>A (p.Leu151Met) n.641C>A n.628C>A | |
| 20 | g.46725478C>G | CA409267014 | SLC2A10 | c.442C>G (p.Leu148Val) c.505C>G (p.Leu169Val) c.451C>G (p.Leu151Val) n.641C>G n.628C>G | |
| 20 | g.46725478C>T | CA510847642 | SLC2A10 | c.442C>T (p.Leu148=) c.505C>T (p.Leu169=) c.451C>T (p.Leu151=) n.641C>T n.628C>T | gnomAD v4 |
| 20 | g.46725479T>A | CA409267015 | SLC2A10 | c.443T>A (p.Leu148Gln) c.506T>A (p.Leu169Gln) c.452T>A (p.Leu151Gln) n.642T>A n.629T>A | |
| 20 | g.46725479T>C | CA321509 | SLC2A10 | c.443T>C (p.Leu148Pro) c.506T>C (p.Leu169Pro) c.452T>C (p.Leu151Pro) n.642T>C n.629T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.46725479T>G | CA409267016 | SLC2A10 | c.443T>G (p.Leu148Arg) c.506T>G (p.Leu169Arg) c.452T>G (p.Leu151Arg) n.642T>G n.629T>G | |
| 20 | g.46725479T= | CA2366796224 | SLC2A10 | c.443T= (p.Leu148=) c.506T= (p.Leu169=) c.452T= (p.Leu151=) n.642T= n.629T= | |
| 20 | g.46725480G>A | CA510847643 | SLC2A10 | c.444G>A (p.Leu148=) c.507G>A (p.Leu169=) c.453G>A (p.Leu151=) n.643G>A n.630G>A | gnomAD v4 |
| 20 | g.46725480G>C | CA510847644 | SLC2A10 | c.444G>C (p.Leu148=) c.507G>C (p.Leu169=) c.453G>C (p.Leu151=) n.643G>C n.630G>C | |
| 20 | g.46725480G>T | CA510847645 | SLC2A10 | c.444G>T (p.Leu148=) c.507G>T (p.Leu169=) c.453G>T (p.Leu151=) n.643G>T n.630G>T | |
| 20 | g.46725481C>A | CA409267017 | SLC2A10 | c.445C>A (p.Leu149Ile) c.508C>A (p.Leu170Ile) c.454C>A (p.Leu152Ile) n.644C>A n.631C>A | |
| 20 | g.46725481C>G | CA409267019 | SLC2A10 | c.445C>G (p.Leu149Val) c.508C>G (p.Leu170Val) c.454C>G (p.Leu152Val) n.644C>G n.631C>G | |
| 20 | g.46725481C>T | CA409267018 | SLC2A10 | c.445C>T (p.Leu149Phe) c.508C>T (p.Leu170Phe) c.454C>T (p.Leu152Phe) n.644C>T n.631C>T | |
| 20 | g.46725482T>A | CA409267020 | SLC2A10 | c.446T>A (p.Leu149His) c.509T>A (p.Leu170His) c.455T>A (p.Leu152His) n.645T>A n.632T>A | |
| 20 | g.46725482T>C | CA409267022 | SLC2A10 | c.446T>C (p.Leu149Pro) c.509T>C (p.Leu170Pro) c.455T>C (p.Leu152Pro) n.645T>C n.632T>C | |
| 20 | g.46725482T>G | CA409267021 | SLC2A10 | c.446T>G (p.Leu149Arg) c.509T>G (p.Leu170Arg) c.455T>G (p.Leu152Arg) n.645T>G n.632T>G | |
| 20 | g.46725483C>A | CA510847646 | SLC2A10 | c.447C>A (p.Leu149=) c.510C>A (p.Leu170=) c.456C>A (p.Leu152=) n.646C>A n.633C>A | |
| 20 | g.46725483C= | CA2366796225 | SLC2A10 | c.447C= (p.Leu149=) c.510C= (p.Leu170=) c.456C= (p.Leu152=) n.646C= n.633C= | |
| 20 | g.46725483C>G | CA510847648 | SLC2A10 | c.447C>G (p.Leu149=) c.510C>G (p.Leu170=) c.456C>G (p.Leu152=) n.646C>G n.633C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.46725483C>T | CA510847647 | SLC2A10 | c.447C>T (p.Leu149=) c.510C>T (p.Leu170=) c.456C>T (p.Leu152=) n.646C>T n.633C>T | dbSNP gnomAD v4 |
| 20 | g.46725484T>A | CA409267023 | SLC2A10 | c.448T>A (p.Ser150Thr) c.511T>A (p.Ser171Thr) c.457T>A (p.Ser153Thr) n.647T>A n.634T>A | |
| 20 | g.46725484T>C | CA409267024 | SLC2A10 | c.448T>C (p.Ser150Pro) c.511T>C (p.Ser171Pro) c.457T>C (p.Ser153Pro) n.647T>C n.634T>C | |
| 20 | g.46725484T>G | CA409267025 | SLC2A10 | c.448T>G (p.Ser150Ala) c.511T>G (p.Ser171Ala) c.457T>G (p.Ser153Ala) n.647T>G n.634T>G | |
| 20 | g.46725485C>A | CA409267026 | SLC2A10 | c.449C>A (p.Ser150Tyr) c.512C>A (p.Ser171Tyr) c.458C>A (p.Ser153Tyr) n.648C>A n.635C>A | |
| 20 | g.46725485C>G | CA409267027 | SLC2A10 | c.449C>G (p.Ser150Cys) c.512C>G (p.Ser171Cys) c.458C>G (p.Ser153Cys) n.648C>G n.635C>G | |
| 20 | g.46725485C>T | CA409267028 | SLC2A10 | c.449C>T (p.Ser150Phe) c.512C>T (p.Ser171Phe) c.458C>T (p.Ser153Phe) n.648C>T n.635C>T | |
| 20 | g.46725485_46725497delinsCCTATGCCCTCAA | CA2366796226 | SLC2A10 | c.449_461delinsCCTATGCCCTCAA (p.Ser150=) c.512_524delinsCCTATGCCCTCAA (p.Ser171=) c.458_470delinsCCTATGCCCTCAA (p.Ser153=) n.648_660delinsCCTATGCCCTCAA n.635_647delinsCCTATGCCCTCAA | |
| 20 | g.46725486C>A | CA510847649 | SLC2A10 | c.450C>A (p.Ser150=) c.513C>A (p.Ser171=) c.459C>A (p.Ser153=) n.649C>A n.636C>A | |
| 20 | g.46725486C>G | CA510847650 | SLC2A10 | c.450C>G (p.Ser150=) c.513C>G (p.Ser171=) c.459C>G (p.Ser153=) n.649C>G n.636C>G | dbSNP |
| 20 | g.46725486C>T | CA510847651 | SLC2A10 | c.450C>T (p.Ser150=) c.513C>T (p.Ser171=) c.459C>T (p.Ser153=) n.649C>T n.636C>T | gnomAD v4 |
| 20 | g.46725492_46725503del | CA636177761 | SLC2A10 | c.456_467del (p.Leu153_Ala156del) c.519_530del (p.Leu174_Ala177del) c.465_476del (p.Leu156_Ala159del) n.655_666del n.642_653del | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.46725487T>A | CA409267029 | SLC2A10 | c.451T>A (p.Tyr151Asn) c.514T>A (p.Tyr172Asn) c.460T>A (p.Tyr154Asn) n.650T>A n.637T>A | |
| 20 | g.46725487T>C | CA409267030 | SLC2A10 | c.451T>C (p.Tyr151His) c.514T>C (p.Tyr172His) c.460T>C (p.Tyr154His) n.650T>C n.637T>C | |
| 20 | g.46725487T>G | CA409267031 | SLC2A10 | c.451T>G (p.Tyr151Asp) c.514T>G (p.Tyr172Asp) c.460T>G (p.Tyr154Asp) n.650T>G n.637T>G | |
| 20 | g.46725488A>C | CA409267032 | SLC2A10 | c.452A>C (p.Tyr151Ser) c.515A>C (p.Tyr172Ser) c.461A>C (p.Tyr154Ser) n.651A>C n.638A>C | |
| 20 | g.46725488A>G | CA409267033 | SLC2A10 | c.452A>G (p.Tyr151Cys) c.515A>G (p.Tyr172Cys) c.461A>G (p.Tyr154Cys) n.651A>G n.638A>G | gnomAD v4 |
| 20 | g.46725488A>T | CA409267034 | SLC2A10 | c.452A>T (p.Tyr151Phe) c.515A>T (p.Tyr172Phe) c.461A>T (p.Tyr154Phe) n.651A>T n.638A>T | |
| 20 | g.46725489T>A | CA409267036 | SLC2A10 | c.453T>A (p.Tyr151Ter) c.516T>A (p.Tyr172Ter) c.462T>A (p.Tyr154Ter) n.652T>A n.639T>A | |
| 20 | g.46725489T>C | CA510847652 | SLC2A10 | c.453T>C (p.Tyr151=) c.516T>C (p.Tyr172=) c.462T>C (p.Tyr154=) n.652T>C n.639T>C | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.46725489T>G | CA409267035 | SLC2A10 | c.453T>G (p.Tyr151Ter) c.516T>G (p.Tyr172Ter) c.462T>G (p.Tyr154Ter) n.652T>G n.639T>G | |
| 20 | g.46725489T= | CA2366796227 | SLC2A10 | c.453T= (p.Tyr151=) c.516T= (p.Tyr172=) c.462T= (p.Tyr154=) n.652T= n.639T= | |
| 20 | g.46725490G>A | CA409267037 | SLC2A10 | c.454G>A (p.Ala152Thr) c.517G>A (p.Ala173Thr) c.463G>A (p.Ala155Thr) n.653G>A n.640G>A | |
| 20 | g.46725490G>C | CA409267038 | SLC2A10 | c.454G>C (p.Ala152Pro) c.517G>C (p.Ala173Pro) c.463G>C (p.Ala155Pro) n.653G>C n.640G>C | |
| 20 | g.46725490G>T | CA409267039 | SLC2A10 | c.454G>T (p.Ala152Ser) c.517G>T (p.Ala173Ser) c.463G>T (p.Ala155Ser) n.653G>T n.640G>T | |
| 20 | g.46725491C>A | CA409267040 | SLC2A10 | c.455C>A (p.Ala152Asp) c.518C>A (p.Ala173Asp) c.464C>A (p.Ala155Asp) n.654C>A n.641C>A | |
| 20 | g.46725491C= | CA2366796228 | SLC2A10 | c.455C= (p.Ala152=) c.518C= (p.Ala173=) c.464C= (p.Ala155=) n.654C= n.641C= | |
| 20 | g.46725491C>G | CA409267041 | SLC2A10 | c.455C>G (p.Ala152Gly) c.518C>G (p.Ala173Gly) c.464C>G (p.Ala155Gly) n.654C>G n.641C>G | |
| 20 | g.46725491C>T | CA9891977 | SLC2A10 | c.455C>T (p.Ala152Val) c.518C>T (p.Ala173Val) c.464C>T (p.Ala155Val) n.654C>T n.641C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.46725492C>A | CA510847653 | SLC2A10 | c.456C>A (p.Ala152=) c.519C>A (p.Ala173=) c.465C>A (p.Ala155=) n.655C>A n.642C>A | |
| 20 | g.46725492C>G | CA510847654 | SLC2A10 | c.456C>G (p.Ala152=) c.519C>G (p.Ala173=) c.465C>G (p.Ala155=) n.655C>G n.642C>G | |
| 20 | g.46725492C>T | CA510847655 | SLC2A10 | c.456C>T (p.Ala152=) c.519C>T (p.Ala173=) c.465C>T (p.Ala155=) n.655C>T n.642C>T | gnomAD v4 |
| 20 | g.46725493C>A | CA409267042 | SLC2A10 | c.457C>A (p.Leu153Ile) c.520C>A (p.Leu174Ile) c.466C>A (p.Leu156Ile) n.656C>A n.643C>A | |
| 20 | g.46725493C>G | CA409267043 | SLC2A10 | c.457C>G (p.Leu153Val) c.520C>G (p.Leu174Val) c.466C>G (p.Leu156Val) n.656C>G n.643C>G | |
| 20 | g.46725493C>T | CA409267044 | SLC2A10 | c.457C>T (p.Leu153Phe) c.520C>T (p.Leu174Phe) c.466C>T (p.Leu156Phe) n.656C>T n.643C>T | gnomAD v4 |
| 20 | g.46725494T>A | CA409267045 | SLC2A10 | c.458T>A (p.Leu153His) c.521T>A (p.Leu174His) c.467T>A (p.Leu156His) n.657T>A n.644T>A | |
| 20 | g.46725494T>C | CA409267046 | SLC2A10 | c.458T>C (p.Leu153Pro) c.521T>C (p.Leu174Pro) c.467T>C (p.Leu156Pro) n.657T>C n.644T>C | dbSNP |
| 20 | g.46725494T>G | CA409267047 | SLC2A10 | c.458T>G (p.Leu153Arg) c.521T>G (p.Leu174Arg) c.467T>G (p.Leu156Arg) n.657T>G n.644T>G | |
| 20 | g.46725494T= | CA2366796229 | SLC2A10 | c.458T= (p.Leu153=) c.521T= (p.Leu174=) c.467T= (p.Leu156=) n.657T= n.644T= | |
| 20 | g.46725495C>A | CA510847656 | SLC2A10 | c.459C>A (p.Leu153=) c.522C>A (p.Leu174=) c.468C>A (p.Leu156=) n.658C>A n.645C>A | |
| 20 | g.46725495C= | CA2366796230 | SLC2A10 | c.459C= (p.Leu153=) c.522C= (p.Leu174=) c.468C= (p.Leu156=) n.658C= n.645C= | |
| 20 | g.46725495C>G | CA510847657 | SLC2A10 | c.459C>G (p.Leu153=) c.522C>G (p.Leu174=) c.468C>G (p.Leu156=) n.658C>G n.645C>G | dbSNP |
| 20 | g.46725495C>T | CA510847658 | SLC2A10 | c.459C>T (p.Leu153=) c.522C>T (p.Leu174=) c.468C>T (p.Leu156=) n.658C>T n.645C>T | |
| 20 | g.46725496A= | CA2366796231 | SLC2A10 | c.460A= (p.Asn154=) c.523A= (p.Asn175=) c.469A= (p.Asn157=) n.659A= n.646A= | |
| 20 | g.46725496A>C | CA409267049 | SLC2A10 | c.460A>C (p.Asn154His) c.523A>C (p.Asn175His) c.469A>C (p.Asn157His) n.659A>C n.646A>C | |
| 20 | g.46725496A>G | CA9891978 | SLC2A10 | c.460A>G (p.Asn154Asp) c.523A>G (p.Asn175Asp) c.469A>G (p.Asn157Asp) n.659A>G n.646A>G | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 20 | g.46725496A>T | CA409267048 | SLC2A10 | c.460A>T (p.Asn154Tyr) c.523A>T (p.Asn175Tyr) c.469A>T (p.Asn157Tyr) n.659A>T n.646A>T | |
| 20 | g.46725497A>C | CA409267050 | SLC2A10 | c.461A>C (p.Asn154Thr) c.524A>C (p.Asn175Thr) c.470A>C (p.Asn157Thr) n.660A>C n.647A>C | |
| 20 | g.46725497A>G | CA409267051 | SLC2A10 | c.461A>G (p.Asn154Ser) c.524A>G (p.Asn175Ser) c.470A>G (p.Asn157Ser) n.660A>G n.647A>G | |
| 20 | g.46725497A>T | CA409267052 | SLC2A10 | c.461A>T (p.Asn154Ile) c.524A>T (p.Asn175Ile) c.470A>T (p.Asn157Ile) n.660A>T n.647A>T | |
| 20 | g.46725498C>A | CA409267053 | SLC2A10 | c.462C>A (p.Asn154Lys) c.525C>A (p.Asn175Lys) c.471C>A (p.Asn157Lys) n.661C>A n.648C>A | gnomAD v4 |
| 20 | g.46725498C= | CA2366796232 | SLC2A10 | c.462C= (p.Asn154=) c.525C= (p.Asn175=) c.471C= (p.Asn157=) n.661C= n.648C= | |
| 20 | g.46725498C>G | CA079994 | SLC2A10 | c.462C>G (p.Asn154Lys) c.525C>G (p.Asn175Lys) c.471C>G (p.Asn157Lys) n.661C>G n.648C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.46725498C>T | CA510847659 | SLC2A10 | c.462C>T (p.Asn154=) c.525C>T (p.Asn175=) c.471C>T (p.Asn157=) n.661C>T n.648C>T | |
| 20 | g.46725499T>A | CA409267054 | SLC2A10 | c.463T>A (p.Tyr155Asn) c.526T>A (p.Tyr176Asn) c.472T>A (p.Tyr158Asn) n.662T>A n.649T>A | |
| 20 | g.46725499T>C | CA409267055 | SLC2A10 | c.463T>C (p.Tyr155His) c.526T>C (p.Tyr176His) c.472T>C (p.Tyr158His) n.662T>C n.649T>C | |
| 20 | g.46725499T>G | CA409267056 | SLC2A10 | c.463T>G (p.Tyr155Asp) c.526T>G (p.Tyr176Asp) c.472T>G (p.Tyr158Asp) n.662T>G n.649T>G | |
| 20 | g.46725500A= | CA2366796233 | SLC2A10 | c.464A= (p.Tyr155=) c.527A= (p.Tyr176=) c.473A= (p.Tyr158=) n.663A= n.650A= | |
| 20 | g.46725500A>C | CA409267057 | SLC2A10 | c.464A>C (p.Tyr155Ser) c.527A>C (p.Tyr176Ser) c.473A>C (p.Tyr158Ser) n.663A>C n.650A>C | ClinVar dbSNP gnomAD v4 |
| 20 | g.46725500A>G | CA315755666 | SLC2A10 | c.464A>G (p.Tyr155Cys) c.527A>G (p.Tyr176Cys) c.473A>G (p.Tyr158Cys) n.663A>G n.650A>G | dbSNP gnomAD v4 |
| 20 | g.46725500A>T | CA409267058 | SLC2A10 | c.464A>T (p.Tyr155Phe) c.527A>T (p.Tyr176Phe) c.473A>T (p.Tyr158Phe) n.663A>T n.650A>T | |
| 20 | g.46725500_46725501insCG | CA2560576181 | SLC2A10 | c.464_465insCG (p.Ala156ValfsTer?) c.527_528insCG (p.Ala177ValfsTer?) c.473_474insCG (p.Ala159ValfsTer?) n.663_664insCG n.650_651insCG | |
| 20 | g.46725501T>A | CA409267059 | SLC2A10 | c.465T>A (p.Tyr155Ter) c.528T>A (p.Tyr176Ter) c.474T>A (p.Tyr158Ter) n.664T>A n.651T>A | |
| 20 | g.46725501T>C | CA510847660 | SLC2A10 | c.465T>C (p.Tyr155=) c.528T>C (p.Tyr176=) c.474T>C (p.Tyr158=) n.664T>C n.651T>C | |
| 20 | g.46725501T>G | CA409267060 | SLC2A10 | c.465T>G (p.Tyr155Ter) c.528T>G (p.Tyr176Ter) c.474T>G (p.Tyr158Ter) n.664T>G n.651T>G | |
| 20 | g.46725502G>A | CA409267063 | SLC2A10 | c.466G>A (p.Ala156Thr) c.529G>A (p.Ala177Thr) c.475G>A (p.Ala159Thr) n.665G>A n.652G>A | |
| 20 | g.46725502G>C | CA409267061 | SLC2A10 | c.466G>C (p.Ala156Pro) c.529G>C (p.Ala177Pro) c.475G>C (p.Ala159Pro) n.665G>C n.652G>C | |
| 20 | g.46725502G>T | CA409267062 | SLC2A10 | c.466G>T (p.Ala156Ser) c.529G>T (p.Ala177Ser) c.475G>T (p.Ala159Ser) n.665G>T n.652G>T | |
| 20 | g.46725503C>A | CA409267064 | SLC2A10 | c.467C>A (p.Ala156Glu) c.530C>A (p.Ala177Glu) c.476C>A (p.Ala159Glu) n.666C>A n.653C>A | |
| 20 | g.46725503C>G | CA409267065 | SLC2A10 | c.467C>G (p.Ala156Gly) c.530C>G (p.Ala177Gly) c.476C>G (p.Ala159Gly) n.666C>G n.653C>G | |
| 20 | g.46725503C>T | CA409267066 | SLC2A10 | c.467C>T (p.Ala156Val) c.530C>T (p.Ala177Val) c.476C>T (p.Ala159Val) n.666C>T n.653C>T | gnomAD v4 |
| 20 | g.46725504_46725505del | CA2527029223 | SLC2A10 | c.468_469del (p.Leu157GlyfsTer?) c.531_532del (p.Leu178GlyfsTer?) c.477_478del (p.Leu160GlyfsTer?) n.667_668del n.654_655del | |
| 20 | g.46725504A>C | CA510847661 | SLC2A10 | c.468A>C (p.Ala156=) c.531A>C (p.Ala177=) c.477A>C (p.Ala159=) n.667A>C n.654A>C | |
| 20 | g.46725504A>G | CA510847662 | SLC2A10 | c.468A>G (p.Ala156=) c.531A>G (p.Ala177=) c.477A>G (p.Ala159=) n.667A>G n.654A>G | |
| 20 | g.46725504A>T | CA510847663 | SLC2A10 | c.468A>T (p.Ala156=) c.531A>T (p.Ala177=) c.477A>T (p.Ala159=) n.667A>T n.654A>T | |
| 20 | g.46725505C>A | CA409267067 | SLC2A10 | c.469C>A (p.Leu157Met) c.532C>A (p.Leu178Met) c.478C>A (p.Leu160Met) n.668C>A n.655C>A | |
| 20 | g.46725505C>G | CA409267068 | SLC2A10 | c.469C>G (p.Leu157Val) c.532C>G (p.Leu178Val) c.478C>G (p.Leu160Val) n.668C>G n.655C>G | |
| 20 | g.46725505C>T | CA510847664 | SLC2A10 | c.469C>T (p.Leu157=) c.532C>T (p.Leu178=) c.478C>T (p.Leu160=) n.668C>T n.655C>T | |
| 20 | g.46725509_46725512del | CA2580615418 | SLC2A10 | c.473_476del (p.Ala158ValfsTer?) c.536_539del (p.Ala179ValfsTer?) c.482_485del (p.Ala161ValfsTer?) n.672_675del n.659_662del | ClinVar dbSNP |
| 20 | g.46725506T>A | CA409267069 | SLC2A10 | c.470T>A (p.Leu157Gln) c.533T>A (p.Leu178Gln) c.479T>A (p.Leu160Gln) n.669T>A n.656T>A | |
| 20 | g.46725506T>C | CA409267070 | SLC2A10 | c.470T>C (p.Leu157Pro) c.533T>C (p.Leu178Pro) c.479T>C (p.Leu160Pro) n.669T>C n.656T>C | |
| 20 | g.46725506T>G | CA409267071 | SLC2A10 | c.470T>G (p.Leu157Arg) c.533T>G (p.Leu178Arg) c.479T>G (p.Leu160Arg) n.669T>G n.656T>G | |
| 20 | g.46725507G>A | CA9891979 | SLC2A10 | c.471G>A (p.Leu157=) c.534G>A (p.Leu178=) c.480G>A (p.Leu160=) n.670G>A n.657G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.46725507G>C | CA510847665 | SLC2A10 | c.471G>C (p.Leu157=) c.534G>C (p.Leu178=) c.480G>C (p.Leu160=) n.670G>C n.657G>C | |
| 20 | g.46725507G= | CA2366796234 | SLC2A10 | c.471G= (p.Leu157=) c.534G= (p.Leu178=) c.480G= (p.Leu160=) n.670G= n.657G= | |
| 20 | g.46725507G>T | CA510847666 | SLC2A10 | c.471G>T (p.Leu157=) c.534G>T (p.Leu178=) c.480G>T (p.Leu160=) n.670G>T n.657G>T | |
| 20 | g.46725508G>A | CA409267072 | SLC2A10 | c.472G>A (p.Ala158Thr) c.535G>A (p.Ala179Thr) c.481G>A (p.Ala161Thr) n.671G>A n.658G>A | |
| 20 | g.46725508G>C | CA409267073 | SLC2A10 | c.472G>C (p.Ala158Pro) c.535G>C (p.Ala179Pro) c.481G>C (p.Ala161Pro) n.671G>C n.658G>C | dbSNP |
| 20 | g.46725508G= | CA2366796235 | SLC2A10 | c.472G= (p.Ala158=) c.535G= (p.Ala179=) c.481G= (p.Ala161=) n.671G= n.658G= | |
| 20 | g.46725508G>T | CA409267074 | SLC2A10 | c.472G>T (p.Ala158Ser) c.535G>T (p.Ala179Ser) c.481G>T (p.Ala161Ser) n.671G>T n.658G>T | |
| 20 | g.46725509C>A | CA409267076 | SLC2A10 | c.473C>A (p.Ala158Asp) c.536C>A (p.Ala179Asp) c.482C>A (p.Ala161Asp) n.672C>A n.659C>A | |
| 20 | g.46725509C>G | CA409267077 | SLC2A10 | c.473C>G (p.Ala158Gly) c.536C>G (p.Ala179Gly) c.482C>G (p.Ala161Gly) n.672C>G n.659C>G | |
| 20 | g.46725509C>T | CA409267075 | SLC2A10 | c.473C>T (p.Ala158Val) c.536C>T (p.Ala179Val) c.482C>T (p.Ala161Val) n.672C>T n.659C>T | gnomAD v4 |
| 20 | g.46725510T>A | CA510847667 | SLC2A10 | c.474T>A (p.Ala158=) c.537T>A (p.Ala179=) c.483T>A (p.Ala161=) n.673T>A n.660T>A | |
| 20 | g.46725510T>C | CA510847668 | SLC2A10 | c.474T>C (p.Ala158=) c.537T>C (p.Ala179=) c.483T>C (p.Ala161=) n.673T>C n.660T>C | gnomAD v4 |
| 20 | g.46725510T>G | CA510847669 | SLC2A10 | c.474T>G (p.Ala158=) c.537T>G (p.Ala179=) c.483T>G (p.Ala161=) n.673T>G n.660T>G | |
| 20 | g.46725511G>A | CA409267078 | SLC2A10 | c.475G>A (p.Gly159Ser) c.538G>A (p.Gly180Ser) c.484G>A (p.Gly162Ser) n.674G>A n.661G>A | |
| 20 | g.46725511G>C | CA409267079 | SLC2A10 | c.475G>C (p.Gly159Arg) c.538G>C (p.Gly180Arg) c.484G>C (p.Gly162Arg) n.674G>C n.661G>C | |
| 20 | g.46725511G= | CA2366796236 | SLC2A10 | c.475G= (p.Gly159=) c.538G= (p.Gly180=) c.484G= (p.Gly162=) n.674G= n.661G= | |
| 20 | g.46725511G>T | CA9891980 | SLC2A10 | c.475G>T (p.Gly159Cys) c.538G>T (p.Gly180Cys) c.484G>T (p.Gly162Cys) n.674G>T n.661G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.46725512G>A | CA409267080 | SLC2A10 | c.476G>A (p.Gly159Asp) c.539G>A (p.Gly180Asp) c.485G>A (p.Gly162Asp) n.675G>A n.662G>A | |
| 20 | g.46725512G>C | CA315755686 | SLC2A10 | c.476G>C (p.Gly159Ala) c.539G>C (p.Gly180Ala) c.485G>C (p.Gly162Ala) n.675G>C n.662G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.46725512G= | CA2366796237 | SLC2A10 | c.476G= (p.Gly159=) c.539G= (p.Gly180=) c.485G= (p.Gly162=) n.675G= n.662G= | |
| 20 | g.46725512G>T | CA409267081 | SLC2A10 | c.476G>T (p.Gly159Val) c.539G>T (p.Gly180Val) c.485G>T (p.Gly162Val) n.675G>T n.662G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.46725513T>A | CA510847670 | SLC2A10 | c.477T>A (p.Gly159=) c.540T>A (p.Gly180=) c.486T>A (p.Gly162=) n.676T>A n.663T>A | |
| 20 | g.46725513T>C | CA510847671 | SLC2A10 | c.477T>C (p.Gly159=) c.540T>C (p.Gly180=) c.486T>C (p.Gly162=) n.676T>C n.663T>C | gnomAD v4 |
| 20 | g.46725513T>G | CA9891981 | SLC2A10 | c.477T>G (p.Gly159=) c.540T>G (p.Gly180=) c.486T>G (p.Gly162=) n.676T>G n.663T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.46725513T= | CA2366796238 | SLC2A10 | c.477T= (p.Gly159=) c.540T= (p.Gly180=) c.486T= (p.Gly162=) n.676T= n.663T= | |
| 20 | g.46725514A>C | CA409267082 | SLC2A10 | c.478A>C (p.Thr160Pro) c.541A>C (p.Thr181Pro) c.487A>C (p.Thr163Pro) n.677A>C n.664A>C | |
| 20 | g.46725514A>G | CA409267083 | SLC2A10 | c.478A>G (p.Thr160Ala) c.541A>G (p.Thr181Ala) c.487A>G (p.Thr163Ala) n.677A>G n.664A>G | |
| 20 | g.46725514A>T | CA409267084 | SLC2A10 | c.478A>T (p.Thr160Ser) c.541A>T (p.Thr181Ser) c.487A>T (p.Thr163Ser) n.677A>T n.664A>T | gnomAD v4 |
| 20 | g.46725515C>A | CA409267085 | SLC2A10 | c.479C>A (p.Thr160Asn) c.542C>A (p.Thr181Asn) c.488C>A (p.Thr163Asn) n.678C>A n.665C>A | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.46725515C= | CA2366796239 | SLC2A10 | c.479C= (p.Thr160=) c.542C= (p.Thr181=) c.488C= (p.Thr163=) n.678C= n.665C= | |
| 20 | g.46725515C>G | CA9891982 | SLC2A10 | c.479C>G (p.Thr160Ser) c.542C>G (p.Thr181Ser) c.488C>G (p.Thr163Ser) n.678C>G n.665C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.46725515C>T | CA9891983 | SLC2A10 | c.479C>T (p.Thr160Ile) c.542C>T (p.Thr181Ile) c.488C>T (p.Thr163Ile) n.678C>T n.665C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.46725519dup | CA2653170811 | SLC2A10 | c.483dup (p.Trp162LeufsTer30) c.546dup (p.Trp183LeufsTer30) c.492dup (p.Trp165LeufsTer30) n.682dup n.669dup | gnomAD v4 |
| 20 | g.46725519del | CA2573157155 | SLC2A10 | c.483del (p.Trp162GlyfsTer?) c.546del (p.Trp183GlyfsTer?) c.492del (p.Trp165GlyfsTer?) n.682del n.669del | ClinVar dbSNP |
| 20 | g.46725516C>A | CA510847672 | SLC2A10 | c.480C>A (p.Thr160=) c.543C>A (p.Thr181=) c.489C>A (p.Thr163=) n.679C>A n.666C>A | |
| 20 | g.46725516C>G | CA510847673 | SLC2A10 | c.480C>G (p.Thr160=) c.543C>G (p.Thr181=) c.489C>G (p.Thr163=) n.679C>G n.666C>G | gnomAD v4 |
| 20 | g.46725516C>T | CA510847674 | SLC2A10 | c.480C>T (p.Thr160=) c.543C>T (p.Thr181=) c.489C>T (p.Thr163=) n.679C>T n.666C>T |