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.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.46725519C>A | CA510847677 | SLC2A10 | c.483C>A (p.Pro161=) c.546C>A (p.Pro182=) c.492C>A (p.Pro164=) n.682C>A n.669C>A | gnomAD v4 |
20 | g.46725519C>G | CA510847676 | SLC2A10 | c.483C>G (p.Pro161=) c.546C>G (p.Pro182=) c.492C>G (p.Pro164=) n.682C>G n.669C>G | |
20 | g.46725519C>T | CA510847675 | SLC2A10 | c.483C>T (p.Pro161=) c.546C>T (p.Pro182=) c.492C>T (p.Pro164=) n.682C>T n.669C>T | |
20 | g.46725519_46725520delinsCT | CA2366796242 | SLC2A10 | c.483_484delinsCT (p.Pro161=) c.546_547delinsCT (p.Pro182=) c.492_493delinsCT (p.Pro164=) n.682_683delinsCT n.669_670delinsCT | |
20 | g.46725520del | CA1017976908 | SLC2A10 | c.484del (p.Trp162GlyfsTer?) c.547del (p.Trp183GlyfsTer?) c.493del (p.Trp165GlyfsTer?) n.683del n.670del | dbSNP gnomAD v3 gnomAD v4 |
20 | g.46725520T>A | CA409267090 | SLC2A10 | c.484T>A (p.Trp162Arg) c.547T>A (p.Trp183Arg) c.493T>A (p.Trp165Arg) n.683T>A n.670T>A | |
20 | g.46725520T>C | CA9891986 | SLC2A10 | c.484T>C (p.Trp162Arg) c.547T>C (p.Trp183Arg) c.493T>C (p.Trp165Arg) n.683T>C n.670T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.46725520T>G | CA409267091 | SLC2A10 | c.484T>G (p.Trp162Gly) c.547T>G (p.Trp183Gly) c.493T>G (p.Trp165Gly) n.683T>G n.670T>G | |
20 | g.46725520T= | CA2366796243 | SLC2A10 | c.484T= (p.Trp162=) c.547T= (p.Trp183=) c.493T= (p.Trp165=) n.683T= n.670T= | |
20 | g.46725521G>A | CA409267092 | SLC2A10 | c.485G>A (p.Trp162Ter) c.548G>A (p.Trp183Ter) c.494G>A (p.Trp165Ter) n.684G>A n.671G>A | ClinVar dbSNP |
20 | g.46725521G>C | CA409267093 | SLC2A10 | c.485G>C (p.Trp162Ser) c.548G>C (p.Trp183Ser) c.494G>C (p.Trp165Ser) n.684G>C n.671G>C | |
20 | g.46725521G>T | CA409267094 | SLC2A10 | c.485G>T (p.Trp162Leu) c.548G>T (p.Trp183Leu) c.494G>T (p.Trp165Leu) n.684G>T n.671G>T | |
20 | g.46725522G>A | CA409267095 | SLC2A10 | c.486G>A (p.Trp162Ter) c.549G>A (p.Trp183Ter) c.495G>A (p.Trp165Ter) n.685G>A n.672G>A | |
20 | g.46725522G>C | CA409267096 | SLC2A10 | c.486G>C (p.Trp162Cys) c.549G>C (p.Trp183Cys) c.495G>C (p.Trp165Cys) n.685G>C n.672G>C | |
20 | g.46725522G>T | CA409267097 | SLC2A10 | c.486G>T (p.Trp162Cys) c.549G>T (p.Trp183Cys) c.495G>T (p.Trp165Cys) n.685G>T n.672G>T | |
20 | g.46725523G>A | CA409267098 | SLC2A10 | c.487G>A (p.Gly163Arg) c.550G>A (p.Gly184Arg) c.496G>A (p.Gly166Arg) n.686G>A n.673G>A | |
20 | g.46725523G>C | CA409267099 | SLC2A10 | c.487G>C (p.Gly163Arg) c.550G>C (p.Gly184Arg) c.496G>C (p.Gly166Arg) n.686G>C n.673G>C | |
20 | g.46725523G>T | CA409267100 | SLC2A10 | c.487G>T (p.Gly163Ter) c.550G>T (p.Gly184Ter) c.496G>T (p.Gly166Ter) n.686G>T n.673G>T | |
20 | g.46725524G>A | CA409267103 | SLC2A10 | c.488G>A (p.Gly163Glu) c.551G>A (p.Gly184Glu) c.497G>A (p.Gly166Glu) n.687G>A n.674G>A | gnomAD v4 COSMIC |
20 | g.46725524G>C | CA409267102 | SLC2A10 | c.488G>C (p.Gly163Ala) c.551G>C (p.Gly184Ala) c.497G>C (p.Gly166Ala) n.687G>C n.674G>C | |
20 | g.46725524G>T | CA409267101 | SLC2A10 | c.488G>T (p.Gly163Val) c.551G>T (p.Gly184Val) c.497G>T (p.Gly166Val) n.687G>T n.674G>T | |
20 | g.46725525A= | CA2366796244 | SLC2A10 | c.489A= (p.Gly163=) c.552A= (p.Gly184=) c.498A= (p.Gly166=) n.688A= n.675A= | |
20 | g.46725525A>C | CA510847678 | SLC2A10 | c.489A>C (p.Gly163=) c.552A>C (p.Gly184=) c.498A>C (p.Gly166=) n.688A>C n.675A>C | |
20 | g.46725525A>G | CA510847680 | SLC2A10 | c.489A>G (p.Gly163=) c.552A>G (p.Gly184=) c.498A>G (p.Gly166=) n.688A>G n.675A>G | dbSNP |
20 | g.46725525A>T | CA510847679 | SLC2A10 | c.489A>T (p.Gly163=) c.552A>T (p.Gly184=) c.498A>T (p.Gly166=) n.688A>T n.675A>T | dbSNP gnomAD v2 gnomAD v4 |
20 | g.46725526T>A | CA409267104 | SLC2A10 | c.490T>A (p.Trp164Arg) c.553T>A (p.Trp185Arg) c.499T>A (p.Trp167Arg) n.689T>A n.676T>A | |
20 | g.46725526T>C | CA409267105 | SLC2A10 | c.490T>C (p.Trp164Arg) c.553T>C (p.Trp185Arg) c.499T>C (p.Trp167Arg) n.689T>C n.676T>C | gnomAD v4 |
20 | g.46725526T>G | CA409267106 | SLC2A10 | c.490T>G (p.Trp164Gly) c.553T>G (p.Trp185Gly) c.499T>G (p.Trp167Gly) n.689T>G n.676T>G | |
20 | g.46725527G>A | CA409267107 | SLC2A10 | c.491G>A (p.Trp164Ter) c.554G>A (p.Trp185Ter) c.500G>A (p.Trp167Ter) n.690G>A n.677G>A | |
20 | g.46725527G>C | CA409267108 | SLC2A10 | c.491G>C (p.Trp164Ser) c.554G>C (p.Trp185Ser) c.500G>C (p.Trp167Ser) n.690G>C n.677G>C | |
20 | g.46725527G>T | CA409267109 | SLC2A10 | c.491G>T (p.Trp164Leu) c.554G>T (p.Trp185Leu) c.500G>T (p.Trp167Leu) n.690G>T n.677G>T | |
20 | g.46725528G>A | CA409267110 | SLC2A10 | c.492G>A (p.Trp164Ter) c.555G>A (p.Trp185Ter) c.501G>A (p.Trp167Ter) n.691G>A n.678G>A | |
20 | g.46725528G>C | CA409267111 | SLC2A10 | c.492G>C (p.Trp164Cys) c.555G>C (p.Trp185Cys) c.501G>C (p.Trp167Cys) n.691G>C n.678G>C | gnomAD v4 |
20 | g.46725528G>T | CA409267112 | SLC2A10 | c.492G>T (p.Trp164Cys) c.555G>T (p.Trp185Cys) c.501G>T (p.Trp167Cys) n.691G>T n.678G>T | |
20 | g.46725529A>C | CA510847681 | SLC2A10 | c.493A>C (p.Arg165=) c.556A>C (p.Arg186=) c.502A>C (p.Arg168=) n.692A>C n.679A>C | |
20 | g.46725529A>G | CA409267113 | SLC2A10 | c.493A>G (p.Arg165Gly) c.556A>G (p.Arg186Gly) c.502A>G (p.Arg168Gly) n.692A>G n.679A>G | |
20 | g.46725529A>T | CA409267114 | SLC2A10 | c.493A>T (p.Arg165Trp) c.556A>T (p.Arg186Trp) c.502A>T (p.Arg168Trp) n.692A>T n.679A>T | |
20 | g.46725530G>A | CA409267117 | SLC2A10 | c.494G>A (p.Arg165Lys) c.557G>A (p.Arg186Lys) c.503G>A (p.Arg168Lys) n.693G>A n.680G>A | |
20 | g.46725530G>C | CA409267116 | SLC2A10 | c.494G>C (p.Arg165Thr) c.557G>C (p.Arg186Thr) c.503G>C (p.Arg168Thr) n.693G>C n.680G>C | |
20 | g.46725530G>T | CA409267115 | SLC2A10 | c.494G>T (p.Arg165Met) c.557G>T (p.Arg186Met) c.503G>T (p.Arg168Met) n.693G>T n.680G>T | |
20 | g.46725531G>A | CA510847682 | SLC2A10 | c.495G>A (p.Arg165=) c.558G>A (p.Arg186=) c.504G>A (p.Arg168=) n.694G>A n.681G>A | |
20 | g.46725531G>C | CA409267118 | SLC2A10 | c.495G>C (p.Arg165Ser) c.558G>C (p.Arg186Ser) c.504G>C (p.Arg168Ser) n.694G>C n.681G>C | |
20 | g.46725531G>T | CA409267119 | SLC2A10 | c.495G>T (p.Arg165Ser) c.558G>T (p.Arg186Ser) c.504G>T (p.Arg168Ser) n.694G>T n.681G>T | |
20 | g.46725532C>A | CA409267120 | SLC2A10 | c.496C>A (p.His166Asn) c.559C>A (p.His187Asn) c.505C>A (p.His169Asn) n.695C>A n.682C>A | |
20 | g.46725532C>G | CA409267121 | SLC2A10 | c.496C>G (p.His166Asp) c.559C>G (p.His187Asp) c.505C>G (p.His169Asp) n.695C>G n.682C>G | |
20 | g.46725532C>T | CA409267122 | SLC2A10 | c.496C>T (p.His166Tyr) c.559C>T (p.His187Tyr) c.505C>T (p.His169Tyr) n.695C>T n.682C>T | gnomAD v4 |
20 | g.46725533A>C | CA409267123 | SLC2A10 | c.497A>C (p.His166Pro) c.560A>C (p.His187Pro) c.506A>C (p.His169Pro) n.696A>C n.683A>C | |
20 | g.46725533A>G | CA409267124 | SLC2A10 | c.497A>G (p.His166Arg) c.560A>G (p.His187Arg) c.506A>G (p.His169Arg) n.696A>G n.683A>G | gnomAD v4 |
20 | g.46725533A>T | CA409267125 | SLC2A10 | c.497A>T (p.His166Leu) c.560A>T (p.His187Leu) c.506A>T (p.His169Leu) n.696A>T n.683A>T | |
20 | g.46725534C>A | CA409267126 | SLC2A10 | c.498C>A (p.His166Gln) c.561C>A (p.His187Gln) c.507C>A (p.His169Gln) n.697C>A n.684C>A | |
20 | g.46725534C>G | CA409267127 | SLC2A10 | c.498C>G (p.His166Gln) c.561C>G (p.His187Gln) c.507C>G (p.His169Gln) n.697C>G n.684C>G | |
20 | g.46725534C>T | CA510847683 | SLC2A10 | c.498C>T (p.His166=) c.561C>T (p.His187=) c.507C>T (p.His169=) n.697C>T n.684C>T | |
20 | g.46725535A>C | CA409267128 | SLC2A10 | c.499A>C (p.Met167Leu) c.562A>C (p.Met188Leu) c.508A>C (p.Met170Leu) n.698A>C n.685A>C | |
20 | g.46725535A>G | CA409267129 | SLC2A10 | c.499A>G (p.Met167Val) c.562A>G (p.Met188Val) c.508A>G (p.Met170Val) n.698A>G n.685A>G | ClinVar |
20 | g.46725535A>T | CA409267130 | SLC2A10 | c.499A>T (p.Met167Leu) c.562A>T (p.Met188Leu) c.508A>T (p.Met170Leu) n.698A>T n.685A>T | gnomAD v4 |
20 | g.46725535_46725536delinsAT | CA2366796245 | SLC2A10 | c.499_500delinsAT (p.Met167=) c.562_563delinsAT (p.Met188=) c.508_509delinsAT (p.Met170=) n.698_699delinsAT n.685_686delinsAT | |
20 | g.46725536del | CA636177762 | SLC2A10 | c.500del (p.Met167SerfsTer?) c.563del (p.Met188SerfsTer?) c.509del (p.Met170SerfsTer?) n.699del n.686del | dbSNP gnomAD v2 gnomAD v4 |
20 | g.46725536T>A | CA409267133 | SLC2A10 | c.500T>A (p.Met167Lys) c.563T>A (p.Met188Lys) c.509T>A (p.Met170Lys) n.699T>A n.686T>A | |
20 | g.46725536T>C | CA409267132 | SLC2A10 | c.500T>C (p.Met167Thr) c.563T>C (p.Met188Thr) c.509T>C (p.Met170Thr) n.699T>C n.686T>C | gnomAD v4 |
20 | g.46725536T>G | CA409267131 | SLC2A10 | c.500T>G (p.Met167Arg) c.563T>G (p.Met188Arg) c.509T>G (p.Met170Arg) n.699T>G n.686T>G | gnomAD v4 |
20 | g.46725537G>A | CA9891987 | SLC2A10 | c.501G>A (p.Met167Ile) c.564G>A (p.Met188Ile) c.510G>A (p.Met170Ile) n.700G>A n.687G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.46725537G>C | CA409267134 | SLC2A10 | c.501G>C (p.Met167Ile) c.564G>C (p.Met188Ile) c.510G>C (p.Met170Ile) n.700G>C n.687G>C | |
20 | g.46725537G= | CA2366796246 | SLC2A10 | c.501G= (p.Met167=) c.564G= (p.Met188=) c.510G= (p.Met170=) n.700G= n.687G= | |
20 | g.46725537G>T | CA409267135 | SLC2A10 | c.501G>T (p.Met167Ile) c.564G>T (p.Met188Ile) c.510G>T (p.Met170Ile) n.700G>T n.687G>T | |
20 | g.46725538T>A | CA409267136 | SLC2A10 | c.502T>A (p.Phe168Ile) c.565T>A (p.Phe189Ile) c.511T>A (p.Phe171Ile) n.701T>A n.688T>A | |
20 | g.46725538T>C | CA409267137 | SLC2A10 | c.502T>C (p.Phe168Leu) c.565T>C (p.Phe189Leu) c.511T>C (p.Phe171Leu) n.701T>C n.688T>C | |
20 | g.46725538T>G | CA409267138 | SLC2A10 | c.502T>G (p.Phe168Val) c.565T>G (p.Phe189Val) c.511T>G (p.Phe171Val) n.701T>G n.688T>G | |
20 | g.46725539T>A | CA409267141 | SLC2A10 | c.503T>A (p.Phe168Tyr) c.566T>A (p.Phe189Tyr) c.512T>A (p.Phe171Tyr) n.702T>A n.689T>A | gnomAD v4 |
20 | g.46725539T>C | CA409267140 | SLC2A10 | c.503T>C (p.Phe168Ser) c.566T>C (p.Phe189Ser) c.512T>C (p.Phe171Ser) n.702T>C n.689T>C | |
20 | g.46725539T>G | CA409267139 | SLC2A10 | c.503T>G (p.Phe168Cys) c.566T>G (p.Phe189Cys) c.512T>G (p.Phe171Cys) n.702T>G n.689T>G | |
20 | g.46725540C>A | CA324019 | SLC2A10 | c.504C>A (p.Phe168Leu) c.567C>A (p.Phe189Leu) c.513C>A (p.Phe171Leu) n.703C>A n.690C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.46725540C= | CA2366796247 | SLC2A10 | c.504C= (p.Phe168=) c.567C= (p.Phe189=) c.513C= (p.Phe171=) n.703C= n.690C= | |
20 | g.46725540C>G | CA409267142 | SLC2A10 | c.504C>G (p.Phe168Leu) c.567C>G (p.Phe189Leu) c.513C>G (p.Phe171Leu) n.703C>G n.690C>G | |
20 | g.46725540C>T | CA9891988 | SLC2A10 | c.504C>T (p.Phe168=) c.567C>T (p.Phe189=) c.513C>T (p.Phe171=) n.703C>T n.690C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.46725541G>A | CA9891989 | SLC2A10 | c.505G>A (p.Gly169Ser) c.568G>A (p.Gly190Ser) c.514G>A (p.Gly172Ser) n.704G>A n.691G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
20 | g.46725541G>C | CA409267143 | SLC2A10 | c.505G>C (p.Gly169Arg) c.568G>C (p.Gly190Arg) c.514G>C (p.Gly172Arg) n.704G>C n.691G>C | |
20 | g.46725541G= | CA2366796248 | SLC2A10 | c.505G= (p.Gly169=) c.568G= (p.Gly190=) c.514G= (p.Gly172=) n.704G= n.691G= | |
20 | g.46725541G>T | CA409267144 | SLC2A10 | c.505G>T (p.Gly169Cys) c.568G>T (p.Gly190Cys) c.514G>T (p.Gly172Cys) n.704G>T n.691G>T | gnomAD v4 |
20 | g.46725542G>A | CA9891990 | SLC2A10 | c.506G>A (p.Gly169Asp) c.569G>A (p.Gly190Asp) c.515G>A (p.Gly172Asp) n.705G>A n.692G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.46725542G>C | CA409267145 | SLC2A10 | c.506G>C (p.Gly169Ala) c.569G>C (p.Gly190Ala) c.515G>C (p.Gly172Ala) n.705G>C n.692G>C | ClinVar |
20 | g.46725542G= | CA2366796249 | SLC2A10 | c.506G= (p.Gly169=) c.569G= (p.Gly190=) c.515G= (p.Gly172=) n.705G= n.692G= | |
20 | g.46725542G>T | CA409267146 | SLC2A10 | c.506G>T (p.Gly169Val) c.569G>T (p.Gly190Val) c.515G>T (p.Gly172Val) n.705G>T n.692G>T | gnomAD v4 |
20 | g.46725543C>A | CA510847684 | SLC2A10 | c.507C>A (p.Gly169=) c.570C>A (p.Gly190=) c.516C>A (p.Gly172=) n.706C>A n.693C>A | |
20 | g.46725543C= | CA2366796250 | SLC2A10 | c.507C= (p.Gly169=) c.570C= (p.Gly190=) c.516C= (p.Gly172=) n.706C= n.693C= | |
20 | g.46725543C>G | CA510847685 | SLC2A10 | c.507C>G (p.Gly169=) c.570C>G (p.Gly190=) c.516C>G (p.Gly172=) n.706C>G n.693C>G | |
20 | g.46725543C>T | CA9891991 | SLC2A10 | c.507C>T (p.Gly169=) c.570C>T (p.Gly190=) c.516C>T (p.Gly172=) n.706C>T n.693C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.46725544T>A | CA409267147 | SLC2A10 | c.508T>A (p.Trp170Arg) c.571T>A (p.Trp191Arg) c.517T>A (p.Trp173Arg) n.707T>A n.694T>A | |
20 | g.46725544T>C | CA409267148 | SLC2A10 | c.508T>C (p.Trp170Arg) c.571T>C (p.Trp191Arg) c.517T>C (p.Trp173Arg) n.707T>C n.694T>C | |
20 | g.46725544T>G | CA409267149 | SLC2A10 | c.508T>G (p.Trp170Gly) c.571T>G (p.Trp191Gly) c.517T>G (p.Trp173Gly) n.707T>G n.694T>G | |
20 | g.46725545G>A | CA409267150 | SLC2A10 | c.509G>A (p.Trp170Ter) c.572G>A (p.Trp191Ter) c.518G>A (p.Trp173Ter) n.708G>A n.695G>A | dbSNP gnomAD v2 |
20 | g.46725545G>C | CA409267151 | SLC2A10 | c.509G>C (p.Trp170Ser) c.572G>C (p.Trp191Ser) c.518G>C (p.Trp173Ser) n.708G>C n.695G>C | |
20 | g.46725545G= | CA2366796251 | SLC2A10 | c.509G= (p.Trp170=) c.572G= (p.Trp191=) c.518G= (p.Trp173=) n.708G= n.695G= | |
20 | g.46725545G>T | CA409267152 | SLC2A10 | c.509G>T (p.Trp170Leu) c.572G>T (p.Trp191Leu) c.518G>T (p.Trp173Leu) n.708G>T n.695G>T | |
20 | g.46725546G>A | CA340263 | SLC2A10 | c.510G>A (p.Trp170Ter) c.573G>A (p.Trp191Ter) c.519G>A (p.Trp173Ter) n.709G>A n.696G>A | ClinVar dbSNP |
20 | g.46725546G>C | CA409267153 | SLC2A10 | c.510G>C (p.Trp170Cys) c.573G>C (p.Trp191Cys) c.519G>C (p.Trp173Cys) n.709G>C n.696G>C | |
20 | g.46725546G= | CA2366796252 | SLC2A10 | c.510G= (p.Trp170=) c.573G= (p.Trp191=) c.519G= (p.Trp173=) n.709G= n.696G= | |
20 | g.46725546G>T | CA409267154 | SLC2A10 | c.510G>T (p.Trp170Cys) c.573G>T (p.Trp191Cys) c.519G>T (p.Trp173Cys) n.709G>T n.696G>T | dbSNP gnomAD v2 gnomAD v4 |
20 | g.46725547G>A | CA409267155 | SLC2A10 | c.511G>A (p.Ala171Thr) c.574G>A (p.Ala192Thr) c.520G>A (p.Ala174Thr) n.710G>A n.697G>A | |
20 | g.46725547G>C | CA409267156 | SLC2A10 | c.511G>C (p.Ala171Pro) c.574G>C (p.Ala192Pro) c.520G>C (p.Ala174Pro) n.710G>C n.697G>C | |
20 | g.46725547G>T | CA409267157 | SLC2A10 | c.511G>T (p.Ala171Ser) c.574G>T (p.Ala192Ser) c.520G>T (p.Ala174Ser) n.710G>T n.697G>T | |
20 | g.46725548C>A | CA409267158 | SLC2A10 | c.512C>A (p.Ala171Asp) c.575C>A (p.Ala192Asp) c.521C>A (p.Ala174Asp) n.711C>A n.698C>A | |
20 | g.46725548C>G | CA409267160 | SLC2A10 | c.512C>G (p.Ala171Gly) c.575C>G (p.Ala192Gly) c.521C>G (p.Ala174Gly) n.711C>G n.698C>G | |
20 | g.46725548C>T | CA409267159 | SLC2A10 | c.512C>T (p.Ala171Val) c.575C>T (p.Ala192Val) c.521C>T (p.Ala174Val) n.711C>T n.698C>T | COSMIC |
20 | g.46725549C>A | CA510847686 | SLC2A10 | c.513C>A (p.Ala171=) c.576C>A (p.Ala192=) c.522C>A (p.Ala174=) n.712C>A n.699C>A | |
20 | g.46725549C>G | CA510847687 | SLC2A10 | c.513C>G (p.Ala171=) c.576C>G (p.Ala192=) c.522C>G (p.Ala174=) n.712C>G n.699C>G | |
20 | g.46725549C>T | CA510847688 | SLC2A10 | c.513C>T (p.Ala171=) c.576C>T (p.Ala192=) c.522C>T (p.Ala174=) n.712C>T n.699C>T | |
20 | g.46725550A>C | CA409267161 | SLC2A10 | c.514A>C (p.Thr172Pro) c.577A>C (p.Thr193Pro) c.523A>C (p.Thr175Pro) n.713A>C n.700A>C | |
20 | g.46725550A>G | CA409267162 | SLC2A10 | c.514A>G (p.Thr172Ala) c.577A>G (p.Thr193Ala) c.523A>G (p.Thr175Ala) n.713A>G n.700A>G | |
20 | g.46725550A>T | CA409267163 | SLC2A10 | c.514A>T (p.Thr172Ser) c.577A>T (p.Thr193Ser) c.523A>T (p.Thr175Ser) n.713A>T n.700A>T | |
20 | g.46725551C>A | CA409267164 | SLC2A10 | c.515C>A (p.Thr172Asn) c.578C>A (p.Thr193Asn) c.524C>A (p.Thr175Asn) n.714C>A n.701C>A | |
20 | g.46725551C= | CA2366796253 | SLC2A10 | c.515C= (p.Thr172=) c.578C= (p.Thr193=) c.524C= (p.Thr175=) n.714C= n.701C= | |
20 | g.46725551C>G | CA409267165 | SLC2A10 | c.515C>G (p.Thr172Ser) c.578C>G (p.Thr193Ser) c.524C>G (p.Thr175Ser) n.714C>G n.701C>G | |
20 | g.46725551C>T | CA241805 | SLC2A10 | c.515C>T (p.Thr172Ile) c.578C>T (p.Thr193Ile) c.524C>T (p.Thr175Ile) n.714C>T n.701C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.46725552T>A | CA510847689 | SLC2A10 | c.516T>A (p.Thr172=) c.579T>A (p.Thr193=) c.525T>A (p.Thr175=) n.715T>A n.702T>A | ClinVar |
20 | g.46725552T>C | CA510847690 | SLC2A10 | c.516T>C (p.Thr172=) c.579T>C (p.Thr193=) c.525T>C (p.Thr175=) n.715T>C n.702T>C | |
20 | g.46725552T>G | CA510847691 | SLC2A10 | c.516T>G (p.Thr172=) c.579T>G (p.Thr193=) c.525T>G (p.Thr175=) n.715T>G n.702T>G | |
20 | g.46725553G>A | CA16616241 | SLC2A10 | c.517G>A (p.Ala173Thr) c.580G>A (p.Ala194Thr) c.526G>A (p.Ala176Thr) n.716G>A n.703G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.46725553G>C | CA409267166 | SLC2A10 | c.517G>C (p.Ala173Pro) c.580G>C (p.Ala194Pro) c.526G>C (p.Ala176Pro) n.716G>C n.703G>C | |
20 | g.46725553G= | CA2366796254 | SLC2A10 | c.517G= (p.Ala173=) c.580G= (p.Ala194=) c.526G= (p.Ala176=) n.716G= n.703G= | |
20 | g.46725553G>T | CA409267167 | SLC2A10 | c.517G>T (p.Ala173Ser) c.580G>T (p.Ala194Ser) c.526G>T (p.Ala176Ser) n.716G>T n.703G>T | |
20 | g.46725554C>A | CA409267168 | SLC2A10 | c.518C>A (p.Ala173Glu) c.581C>A (p.Ala194Glu) c.527C>A (p.Ala176Glu) n.717C>A n.704C>A | |
20 | g.46725554C>G | CA409267169 | SLC2A10 | c.518C>G (p.Ala173Gly) c.581C>G (p.Ala194Gly) c.527C>G (p.Ala176Gly) n.717C>G n.704C>G | |
20 | g.46725554C>T | CA409267170 | SLC2A10 | c.518C>T (p.Ala173Val) c.581C>T (p.Ala194Val) c.527C>T (p.Ala176Val) n.717C>T n.704C>T | |
20 | g.46725555A= | CA2366796255 | SLC2A10 | c.519A= (p.Ala173=) c.582A= (p.Ala194=) c.528A= (p.Ala176=) n.718A= n.705A= | |
20 | g.46725555A>C | CA510847692 | SLC2A10 | c.519A>C (p.Ala173=) c.582A>C (p.Ala194=) c.528A>C (p.Ala176=) n.718A>C n.705A>C | |
20 | g.46725555A>G | CA9891992 | SLC2A10 | c.519A>G (p.Ala173=) c.582A>G (p.Ala194=) c.528A>G (p.Ala176=) n.718A>G n.705A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.46725555A>T | CA510847693 | SLC2A10 | c.519A>T (p.Ala173=) c.582A>T (p.Ala194=) c.528A>T (p.Ala176=) n.718A>T n.705A>T | |
20 | g.46725556C>A | CA409267173 | SLC2A10 | c.520C>A (p.Pro174Thr) c.583C>A (p.Pro195Thr) c.529C>A (p.Pro177Thr) n.719C>A n.706C>A | |
20 | g.46725556C= | CA2366796256 | SLC2A10 | c.520C= (p.Pro174=) c.583C= (p.Pro195=) c.529C= (p.Pro177=) n.719C= n.706C= | |
20 | g.46725556C>G | CA409267171 | SLC2A10 | c.520C>G (p.Pro174Ala) c.583C>G (p.Pro195Ala) c.529C>G (p.Pro177Ala) n.719C>G n.706C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.46725556C>T | CA409267172 | SLC2A10 | c.520C>T (p.Pro174Ser) c.583C>T (p.Pro195Ser) c.529C>T (p.Pro177Ser) n.719C>T n.706C>T | |
20 | g.46725557C>A | CA409267174 | SLC2A10 | c.521C>A (p.Pro174His) c.584C>A (p.Pro195His) c.530C>A (p.Pro177His) n.720C>A n.707C>A | |
20 | g.46725557C>G | CA409267175 | SLC2A10 | c.521C>G (p.Pro174Arg) c.584C>G (p.Pro195Arg) c.530C>G (p.Pro177Arg) n.720C>G n.707C>G | |
20 | g.46725557C>T | CA409267176 | SLC2A10 | c.521C>T (p.Pro174Leu) c.584C>T (p.Pro195Leu) c.530C>T (p.Pro177Leu) n.720C>T n.707C>T | |
20 | g.46725558T>A | CA510847694 | SLC2A10 | c.522T>A (p.Pro174=) c.585T>A (p.Pro195=) c.531T>A (p.Pro177=) n.721T>A n.708T>A | |
20 | g.46725558T>C | CA510847695 | SLC2A10 | c.522T>C (p.Pro174=) c.585T>C (p.Pro195=) c.531T>C (p.Pro177=) n.721T>C n.708T>C | gnomAD v3 gnomAD v4 |
20 | g.46725558T>G | CA510847696 | SLC2A10 | c.522T>G (p.Pro174=) c.585T>G (p.Pro195=) c.531T>G (p.Pro177=) n.721T>G n.708T>G | |
20 | g.46725559G>A | CA409267177 | SLC2A10 | c.523G>A (p.Ala175Thr) c.586G>A (p.Ala196Thr) c.532G>A (p.Ala178Thr) n.722G>A n.709G>A | gnomAD v4 |
20 | g.46725559G>C | CA409267178 | SLC2A10 | c.523G>C (p.Ala175Pro) c.586G>C (p.Ala196Pro) c.532G>C (p.Ala178Pro) n.722G>C n.709G>C | |
20 | g.46725559G>T | CA409267179 | SLC2A10 | c.523G>T (p.Ala175Ser) c.586G>T (p.Ala196Ser) c.532G>T (p.Ala178Ser) n.722G>T n.709G>T | |
20 | g.46725560C>A | CA409267180 | SLC2A10 | c.524C>A (p.Ala175Asp) c.587C>A (p.Ala196Asp) c.533C>A (p.Ala178Asp) n.723C>A n.710C>A | |
20 | g.46725560C>G | CA409267181 | SLC2A10 | c.524C>G (p.Ala175Gly) c.587C>G (p.Ala196Gly) c.533C>G (p.Ala178Gly) n.723C>G n.710C>G | |
20 | g.46725560C>T | CA409267182 | SLC2A10 | c.524C>T (p.Ala175Val) c.587C>T (p.Ala196Val) c.533C>T (p.Ala178Val) n.723C>T n.710C>T | |
20 | g.46725561T>A | CA510847699 | SLC2A10 | c.525T>A (p.Ala175=) c.588T>A (p.Ala196=) c.534T>A (p.Ala178=) n.724T>A n.711T>A | gnomAD v4 |
20 | g.46725561T>C | CA510847698 | SLC2A10 | c.525T>C (p.Ala175=) c.588T>C (p.Ala196=) c.534T>C (p.Ala178=) n.724T>C n.711T>C | |
20 | g.46725561T>G | CA510847697 | SLC2A10 | c.525T>G (p.Ala175=) c.588T>G (p.Ala196=) c.534T>G (p.Ala178=) n.724T>G n.711T>G | |
20 | g.46725562del | CA2653170833 | SLC2A10 | c.526del (p.Val176SerfsTer?) c.589del (p.Val197SerfsTer?) c.535del (p.Val179SerfsTer?) n.725del n.712del | gnomAD v4 |
20 | g.46725562G>A | CA9891993 | SLC2A10 | c.526G>A (p.Val176Ile) c.589G>A (p.Val197Ile) c.535G>A (p.Val179Ile) n.725G>A n.712G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.46725562G>C | CA409267183 | SLC2A10 | c.526G>C (p.Val176Leu) c.589G>C (p.Val197Leu) c.535G>C (p.Val179Leu) n.725G>C n.712G>C | ClinVar |
20 | g.46725562G= | CA2366796257 | SLC2A10 | c.526G= (p.Val176=) c.589G= (p.Val197=) c.535G= (p.Val179=) n.725G= n.712G= | |
20 | g.46725562G>T | CA409267184 | SLC2A10 | c.526G>T (p.Val176Phe) c.589G>T (p.Val197Phe) c.535G>T (p.Val179Phe) n.725G>T n.712G>T | |
20 | g.46725563T>A | CA409267186 | SLC2A10 | c.527T>A (p.Val176Asp) c.590T>A (p.Val197Asp) c.536T>A (p.Val179Asp) n.726T>A n.713T>A | |
20 | g.46725563T>C | CA409267187 | SLC2A10 | c.527T>C (p.Val176Ala) c.590T>C (p.Val197Ala) c.536T>C (p.Val179Ala) n.726T>C n.713T>C | |
20 | g.46725563T>G | CA409267185 | SLC2A10 | c.527T>G (p.Val176Gly) c.590T>G (p.Val197Gly) c.536T>G (p.Val179Gly) n.726T>G n.713T>G | |
20 | g.46725564C>A | CA510847700 | SLC2A10 | c.528C>A (p.Val176=) c.591C>A (p.Val197=) c.537C>A (p.Val179=) n.727C>A n.714C>A | |
20 | g.46725564C>G | CA510847701 | SLC2A10 | c.528C>G (p.Val176=) c.591C>G (p.Val197=) c.537C>G (p.Val179=) n.727C>G n.714C>G | |
20 | g.46725564C>T | CA510847702 | SLC2A10 | c.528C>T (p.Val176=) c.591C>T (p.Val197=) c.537C>T (p.Val179=) n.727C>T n.714C>T | |
20 | g.46725565C>A | CA409267188 | SLC2A10 | c.529C>A (p.Leu177Met) c.592C>A (p.Leu198Met) c.538C>A (p.Leu180Met) n.728C>A n.715C>A | |
20 | g.46725565C>G | CA409267189 | SLC2A10 | c.529C>G (p.Leu177Val) c.592C>G (p.Leu198Val) c.538C>G (p.Leu180Val) n.728C>G n.715C>G | gnomAD v4 |
20 | g.46725565C>T | CA510847703 | SLC2A10 | c.529C>T (p.Leu177=) c.592C>T (p.Leu198=) c.538C>T (p.Leu180=) n.728C>T n.715C>T | gnomAD v4 |
20 | g.46725566T>A | CA409267190 | SLC2A10 | c.530T>A (p.Leu177Gln) c.593T>A (p.Leu198Gln) c.539T>A (p.Leu180Gln) n.729T>A n.716T>A | |
20 | g.46725566T>C | CA9891994 | SLC2A10 | c.530T>C (p.Leu177Pro) c.593T>C (p.Leu198Pro) c.539T>C (p.Leu180Pro) n.729T>C n.716T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.46725566T>G | CA409267191 | SLC2A10 | c.530T>G (p.Leu177Arg) c.593T>G (p.Leu198Arg) c.539T>G (p.Leu180Arg) n.729T>G n.716T>G | |
20 | g.46725566T= | CA2366796258 | SLC2A10 | c.530T= (p.Leu177=) c.593T= (p.Leu198=) c.539T= (p.Leu180=) n.729T= n.716T= | |
20 | g.46725567G>A | CA9891995 | SLC2A10 | c.531G>A (p.Leu177=) c.594G>A (p.Leu198=) c.540G>A (p.Leu180=) n.730G>A n.717G>A | dbSNP ExAC |
20 | g.46725567G>C | CA510847705 | SLC2A10 | c.531G>C (p.Leu177=) c.594G>C (p.Leu198=) c.540G>C (p.Leu180=) n.730G>C n.717G>C | |
20 | g.46725567G= | CA2366796259 | SLC2A10 | c.531G= (p.Leu177=) c.594G= (p.Leu198=) c.540G= (p.Leu180=) n.730G= n.717G= | |
20 | g.46725567G>T | CA510847704 | SLC2A10 | c.531G>T (p.Leu177=) c.594G>T (p.Leu198=) c.540G>T (p.Leu180=) n.730G>T n.717G>T | |
20 | g.46725568C>A | CA409267192 | SLC2A10 | c.532C>A (p.Gln178Lys) c.595C>A (p.Gln199Lys) c.541C>A (p.Gln181Lys) n.731C>A n.718C>A | |
20 | g.46725568C>G | CA409267193 | SLC2A10 | c.532C>G (p.Gln178Glu) c.595C>G (p.Gln199Glu) c.541C>G (p.Gln181Glu) n.731C>G n.718C>G | |
20 | g.46725568C>T | CA409267194 | SLC2A10 | c.532C>T (p.Gln178Ter) c.595C>T (p.Gln199Ter) c.541C>T (p.Gln181Ter) n.731C>T n.718C>T | gnomAD v4 |
20 | g.46725569A= | CA2366796260 | SLC2A10 | c.533A= (p.Gln178=) c.596A= (p.Gln199=) c.542A= (p.Gln181=) n.732A= n.719A= | |
20 | g.46725569A>C | CA409267195 | SLC2A10 | c.533A>C (p.Gln178Pro) c.596A>C (p.Gln199Pro) c.542A>C (p.Gln181Pro) n.732A>C n.719A>C | |
20 | g.46725569A>G | CA409267196 | SLC2A10 | c.533A>G (p.Gln178Arg) c.596A>G (p.Gln199Arg) c.542A>G (p.Gln181Arg) n.732A>G n.719A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.46725569A>T | CA409267197 | SLC2A10 | c.533A>T (p.Gln178Leu) c.596A>T (p.Gln199Leu) c.542A>T (p.Gln181Leu) n.732A>T n.719A>T | |
20 | g.46725570A= | CA2366796261 | SLC2A10 | c.534A= (p.Gln178=) c.597A= (p.Gln199=) c.543A= (p.Gln181=) n.733A= n.720A= | |
20 | g.46725570A>C | CA409267199 | SLC2A10 | c.534A>C (p.Gln178His) c.597A>C (p.Gln199His) c.543A>C (p.Gln181His) n.733A>C n.720A>C | |
20 | g.46725570A>G | CA510847706 | SLC2A10 | c.534A>G (p.Gln178=) c.597A>G (p.Gln199=) c.543A>G (p.Gln181=) n.733A>G n.720A>G | dbSNP gnomAD v3 gnomAD v4 |
20 | g.46725570A>T | CA409267200 | SLC2A10 | c.534A>T (p.Gln178His) c.597A>T (p.Gln199His) c.543A>T (p.Gln181His) n.733A>T n.720A>T | gnomAD v4 |
20 | g.46725571T>A | CA409267202 | SLC2A10 | c.535T>A (p.Ser179Thr) c.598T>A (p.Ser200Thr) c.544T>A (p.Ser182Thr) n.734T>A n.721T>A | |
20 | g.46725571T>C | CA9891996 | SLC2A10 | c.535T>C (p.Ser179Pro) c.598T>C (p.Ser200Pro) c.544T>C (p.Ser182Pro) n.734T>C n.721T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.46725571T>G | CA409267201 | SLC2A10 | c.535T>G (p.Ser179Ala) c.598T>G (p.Ser200Ala) c.544T>G (p.Ser182Ala) n.734T>G n.721T>G | |
20 | g.46725571T= | CA2366796262 | SLC2A10 | c.535T= (p.Ser179=) c.598T= (p.Ser200=) c.544T= (p.Ser182=) n.734T= n.721T= | |
20 | g.46725572C>A | CA409267203 | SLC2A10 | c.536C>A (p.Ser179Tyr) c.599C>A (p.Ser200Tyr) c.545C>A (p.Ser182Tyr) n.735C>A n.722C>A | |
20 | g.46725572C>G | CA409267204 | SLC2A10 | c.536C>G (p.Ser179Cys) c.599C>G (p.Ser200Cys) c.545C>G (p.Ser182Cys) n.735C>G n.722C>G | |
20 | g.46725572C>T | CA409267205 | SLC2A10 | c.536C>T (p.Ser179Phe) c.599C>T (p.Ser200Phe) c.545C>T (p.Ser182Phe) n.735C>T n.722C>T | COSMIC |
20 | g.46725573C>A | CA510847707 | SLC2A10 | c.537C>A (p.Ser179=) c.600C>A (p.Ser200=) c.546C>A (p.Ser182=) n.736C>A n.723C>A | |
20 | g.46725573C>G | CA510847708 | SLC2A10 | c.537C>G (p.Ser179=) c.600C>G (p.Ser200=) c.546C>G (p.Ser182=) n.736C>G n.723C>G | |
20 | g.46725573C>T | CA510847709 | SLC2A10 | c.537C>T (p.Ser179=) c.600C>T (p.Ser200=) c.546C>T (p.Ser182=) n.736C>T n.723C>T | |
20 | g.46725574C>A | CA409267206 | SLC2A10 | c.538C>A (p.Leu180Ile) c.601C>A (p.Leu201Ile) c.547C>A (p.Leu183Ile) n.737C>A n.724C>A | |
20 | g.46725574C= | CA2366796263 | SLC2A10 | c.538C= (p.Leu180=) c.601C= (p.Leu201=) c.547C= (p.Leu183=) n.737C= n.724C= | |
20 | g.46725574C>G | CA409267207 | SLC2A10 | c.538C>G (p.Leu180Val) c.601C>G (p.Leu201Val) c.547C>G (p.Leu183Val) n.737C>G n.724C>G | |
20 | g.46725574C>T | CA9891997 | SLC2A10 | c.538C>T (p.Leu180Phe) c.601C>T (p.Leu201Phe) c.547C>T (p.Leu183Phe) n.737C>T n.724C>T | dbSNP ExAC gnomAD v3 gnomAD v4 |
20 | g.46725575T>A | CA409267208 | SLC2A10 | c.539T>A (p.Leu180His) c.602T>A (p.Leu201His) c.548T>A (p.Leu183His) n.738T>A n.725T>A | |
20 | g.46725575T>C | CA409267209 | SLC2A10 | c.539T>C (p.Leu180Pro) c.602T>C (p.Leu201Pro) c.548T>C (p.Leu183Pro) n.738T>C n.725T>C | |
20 | g.46725575T>G | CA409267210 | SLC2A10 | c.539T>G (p.Leu180Arg) c.602T>G (p.Leu201Arg) c.548T>G (p.Leu183Arg) n.738T>G n.725T>G | |
20 | g.46725576C>A | CA510847710 | SLC2A10 | c.540C>A (p.Leu180=) c.603C>A (p.Leu201=) c.549C>A (p.Leu183=) n.739C>A n.726C>A | |
20 | g.46725576C>G | CA510847711 | SLC2A10 | c.540C>G (p.Leu180=) c.603C>G (p.Leu201=) c.549C>G (p.Leu183=) n.739C>G n.726C>G | |
20 | g.46725576C>T | CA510847712 | SLC2A10 | c.540C>T (p.Leu180=) c.603C>T (p.Leu201=) c.549C>T (p.Leu183=) n.739C>T n.726C>T | |
20 | g.46725577A>C | CA409267211 | SLC2A10 | c.541A>C (p.Ser181Arg) c.604A>C (p.Ser202Arg) c.550A>C (p.Ser184Arg) n.740A>C n.727A>C | |
20 | g.46725577A>G | CA409267212 | SLC2A10 | c.541A>G (p.Ser181Gly) c.604A>G (p.Ser202Gly) c.550A>G (p.Ser184Gly) n.740A>G n.727A>G | |
20 | g.46725577A>T | CA409267213 | SLC2A10 | c.541A>T (p.Ser181Cys) c.604A>T (p.Ser202Cys) c.550A>T (p.Ser184Cys) n.740A>T n.727A>T | |
20 | g.46725578G>A | CA409267216 | SLC2A10 | c.542G>A (p.Ser181Asn) c.605G>A (p.Ser202Asn) c.551G>A (p.Ser184Asn) n.741G>A n.728G>A | dbSNP gnomAD v3 gnomAD v4 |
20 | g.46725578G>C | CA409267215 | SLC2A10 | c.542G>C (p.Ser181Thr) c.605G>C (p.Ser202Thr) c.551G>C (p.Ser184Thr) n.741G>C n.728G>C | |
20 | g.46725578G= | CA2366796264 | SLC2A10 | c.542G= (p.Ser181=) c.605G= (p.Ser202=) c.551G= (p.Ser184=) n.741G= n.728G= | |
20 | g.46725578G>T | CA409267214 | SLC2A10 | c.542G>T (p.Ser181Ile) c.605G>T (p.Ser202Ile) c.551G>T (p.Ser184Ile) n.741G>T n.728G>T | |
20 | g.46725579C>A | CA409267218 | SLC2A10 | c.543C>A (p.Ser181Arg) c.606C>A (p.Ser202Arg) c.552C>A (p.Ser184Arg) n.742C>A n.729C>A | gnomAD v4 |
20 | g.46725579C>G | CA409267217 | SLC2A10 | c.543C>G (p.Ser181Arg) c.606C>G (p.Ser202Arg) c.552C>G (p.Ser184Arg) n.742C>G n.729C>G | |
20 | g.46725579C>T | CA510847713 | SLC2A10 | c.543C>T (p.Ser181=) c.606C>T (p.Ser202=) c.552C>T (p.Ser184=) n.742C>T n.729C>T | gnomAD v4 |
20 | g.46725580C>A | CA409267219 | SLC2A10 | c.544C>A (p.Leu182Ile) c.607C>A (p.Leu203Ile) c.553C>A (p.Leu185Ile) n.743C>A n.730C>A | |
20 | g.46725580C>G | CA409267220 | SLC2A10 | c.544C>G (p.Leu182Val) c.607C>G (p.Leu203Val) c.553C>G (p.Leu185Val) n.743C>G n.730C>G | |
20 | g.46725580C>T | CA409267221 | SLC2A10 | c.544C>T (p.Leu182Phe) c.607C>T (p.Leu203Phe) c.553C>T (p.Leu185Phe) n.743C>T n.730C>T | |
20 | g.46725581T>A | CA409267222 | SLC2A10 | c.545T>A (p.Leu182His) c.608T>A (p.Leu203His) c.554T>A (p.Leu185His) n.744T>A n.731T>A | |
20 | g.46725581T>C | CA409267223 | SLC2A10 | c.545T>C (p.Leu182Pro) c.608T>C (p.Leu203Pro) c.554T>C (p.Leu185Pro) n.744T>C n.731T>C | |
20 | g.46725581T>G | CA409267224 | SLC2A10 | c.545T>G (p.Leu182Arg) c.608T>G (p.Leu203Arg) c.554T>G (p.Leu185Arg) n.744T>G n.731T>G | |
20 | g.46725582C>A | CA510847714 | SLC2A10 | c.546C>A (p.Leu182=) c.609C>A (p.Leu203=) c.555C>A (p.Leu185=) n.745C>A n.732C>A | ClinVar dbSNP gnomAD v4 |
20 | g.46725582C= | CA2366796265 | SLC2A10 | c.546C= (p.Leu182=) c.609C= (p.Leu203=) c.555C= (p.Leu185=) n.745C= n.732C= | |
20 | g.46725582C>G | CA510847715 | SLC2A10 | c.546C>G (p.Leu182=) c.609C>G (p.Leu203=) c.555C>G (p.Leu185=) n.745C>G n.732C>G | |
20 | g.46725582C>T | CA9891998 | SLC2A10 | c.546C>T (p.Leu182=) c.609C>T (p.Leu203=) c.555C>T (p.Leu185=) n.745C>T n.732C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.46725583C>A | CA409267225 | SLC2A10 | c.547C>A (p.Leu183Ile) c.610C>A (p.Leu204Ile) c.556C>A (p.Leu186Ile) n.746C>A n.733C>A | |
20 | g.46725583C= | CA2366796266 | SLC2A10 | c.547C= (p.Leu183=) c.610C= (p.Leu204=) c.556C= (p.Leu186=) n.746C= n.733C= | |
20 | g.46725583C>G | CA409267226 | SLC2A10 | c.547C>G (p.Leu183Val) c.610C>G (p.Leu204Val) c.556C>G (p.Leu186Val) n.746C>G n.733C>G | |
20 | g.46725583C>T | CA409267227 | SLC2A10 | c.547C>T (p.Leu183Phe) c.610C>T (p.Leu204Phe) c.556C>T (p.Leu186Phe) n.746C>T n.733C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.46725584T>A | CA409267228 | SLC2A10 | c.548T>A (p.Leu183His) c.611T>A (p.Leu204His) c.557T>A (p.Leu186His) n.747T>A n.734T>A | |
20 | g.46725584T>C | CA409267229 | SLC2A10 | c.548T>C (p.Leu183Pro) c.611T>C (p.Leu204Pro) c.557T>C (p.Leu186Pro) n.747T>C n.734T>C | |
20 | g.46725584T>G | CA409267230 | SLC2A10 | c.548T>G (p.Leu183Arg) c.611T>G (p.Leu204Arg) c.557T>G (p.Leu186Arg) n.747T>G n.734T>G | |
20 | g.46725585C>A | CA510847716 | SLC2A10 | c.549C>A (p.Leu183=) c.612C>A (p.Leu204=) c.558C>A (p.Leu186=) n.748C>A n.735C>A | |
20 | g.46725585C= | CA2366796267 | SLC2A10 | c.549C= (p.Leu183=) c.612C= (p.Leu204=) c.558C= (p.Leu186=) n.748C= n.735C= | |
20 | g.46725585C>G | CA510847717 | SLC2A10 | c.549C>G (p.Leu183=) c.612C>G (p.Leu204=) c.558C>G (p.Leu186=) n.748C>G n.735C>G | dbSNP |
20 | g.46725585C>T | CA510847718 | SLC2A10 | c.549C>T (p.Leu183=) c.612C>T (p.Leu204=) c.558C>T (p.Leu186=) n.748C>T n.735C>T | |
20 | g.46725586T>A | CA409267231 | SLC2A10 | c.550T>A (p.Phe184Ile) c.613T>A (p.Phe205Ile) c.559T>A (p.Phe187Ile) n.749T>A n.736T>A | |
20 | g.46725586T>C | CA409267233 | SLC2A10 | c.550T>C (p.Phe184Leu) c.613T>C (p.Phe205Leu) c.559T>C (p.Phe187Leu) n.749T>C n.736T>C | |
20 | g.46725586T>G | CA409267232 | SLC2A10 | c.550T>G (p.Phe184Val) c.613T>G (p.Phe205Val) c.559T>G (p.Phe187Val) n.749T>G n.736T>G | |
20 | g.46725587T>A | CA409267234 | SLC2A10 | c.551T>A (p.Phe184Tyr) c.614T>A (p.Phe205Tyr) c.560T>A (p.Phe187Tyr) n.750T>A n.737T>A | |
20 | g.46725587T>C | CA409267235 | SLC2A10 | c.551T>C (p.Phe184Ser) c.614T>C (p.Phe205Ser) c.560T>C (p.Phe187Ser) n.750T>C n.737T>C | |
20 | g.46725587T>G | CA409267236 | SLC2A10 | c.551T>G (p.Phe184Cys) c.614T>G (p.Phe205Cys) c.560T>G (p.Phe187Cys) n.750T>G n.737T>G | |
20 | g.46725588C>A | CA409267237 | SLC2A10 | c.552C>A (p.Phe184Leu) c.615C>A (p.Phe205Leu) c.561C>A (p.Phe187Leu) n.751C>A n.738C>A | |
20 | g.46725588C= | CA2366796268 | SLC2A10 | c.552C= (p.Phe184=) c.615C= (p.Phe205=) c.561C= (p.Phe187=) n.751C= n.738C= | |
20 | g.46725588C>G | CA409267238 | SLC2A10 | c.552C>G (p.Phe184Leu) c.615C>G (p.Phe205Leu) c.561C>G (p.Phe187Leu) n.751C>G n.738C>G | |
20 | g.46725588C>T | CA510847719 | SLC2A10 | c.552C>T (p.Phe184=) c.615C>T (p.Phe205=) c.561C>T (p.Phe187=) n.751C>T n.738C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
20 | g.46725589C>A | CA409267239 | SLC2A10 | c.553C>A (p.Leu185Ile) c.616C>A (p.Leu206Ile) c.562C>A (p.Leu188Ile) n.752C>A n.739C>A | |
20 | g.46725589C>G | CA409267240 | SLC2A10 | c.553C>G (p.Leu185Val) c.616C>G (p.Leu206Val) c.562C>G (p.Leu188Val) n.752C>G n.739C>G | |
20 | g.46725589C>T | CA409267241 | SLC2A10 | c.553C>T (p.Leu185Phe) c.616C>T (p.Leu206Phe) c.562C>T (p.Leu188Phe) n.752C>T n.739C>T | gnomAD v4 |
20 | g.46725590T>A | CA409267242 | SLC2A10 | c.554T>A (p.Leu185His) c.617T>A (p.Leu206His) c.563T>A (p.Leu188His) n.753T>A n.740T>A | COSMIC |
20 | g.46725590T>C | CA409267243 | SLC2A10 | c.554T>C (p.Leu185Pro) c.617T>C (p.Leu206Pro) c.563T>C (p.Leu188Pro) n.753T>C n.740T>C | |
20 | g.46725590T>G | CA409267244 | SLC2A10 | c.554T>G (p.Leu185Arg) c.617T>G (p.Leu206Arg) c.563T>G (p.Leu188Arg) n.753T>G n.740T>G | |
20 | g.46725591C>A | CA510847722 | SLC2A10 | c.555C>A (p.Leu185=) c.618C>A (p.Leu206=) c.564C>A (p.Leu188=) n.754C>A n.741C>A | |
20 | g.46725591C>G | CA510847721 | SLC2A10 | c.555C>G (p.Leu185=) c.618C>G (p.Leu206=) c.564C>G (p.Leu188=) n.754C>G n.741C>G | |
20 | g.46725591C>T | CA510847720 | SLC2A10 | c.555C>T (p.Leu185=) c.618C>T (p.Leu206=) c.564C>T (p.Leu188=) n.754C>T n.741C>T | |
20 | g.46725592C>A | CA409267246 | SLC2A10 | c.556C>A (p.Pro186Thr) c.619C>A (p.Pro207Thr) c.565C>A (p.Pro189Thr) n.755C>A n.742C>A | |
20 | g.46725592C= | CA2366796269 | SLC2A10 | c.556C= (p.Pro186=) c.619C= (p.Pro207=) c.565C= (p.Pro189=) n.755C= n.742C= | |
20 | g.46725592C>G | CA409267247 | SLC2A10 | c.556C>G (p.Pro186Ala) c.619C>G (p.Pro207Ala) c.565C>G (p.Pro189Ala) n.755C>G n.742C>G | |
20 | g.46725592C>T | CA409267245 | SLC2A10 | c.556C>T (p.Pro186Ser) c.619C>T (p.Pro207Ser) c.565C>T (p.Pro189Ser) n.755C>T n.742C>T | dbSNP gnomAD v3 gnomAD v4 COSMIC |
20 | g.46725593C>A | CA409267248 | SLC2A10 | c.557C>A (p.Pro186His) c.620C>A (p.Pro207His) c.566C>A (p.Pro189His) n.756C>A n.743C>A | |
20 | g.46725593C= | CA2366796270 | SLC2A10 | c.557C= (p.Pro186=) c.620C= (p.Pro207=) c.566C= (p.Pro189=) n.756C= n.743C= | |
20 | g.46725593C>G | CA409267249 | SLC2A10 | c.557C>G (p.Pro186Arg) c.620C>G (p.Pro207Arg) c.566C>G (p.Pro189Arg) n.756C>G n.743C>G | |
20 | g.46725593C>T | CA9891999 | SLC2A10 | c.557C>T (p.Pro186Leu) c.620C>T (p.Pro207Leu) c.566C>T (p.Pro189Leu) n.756C>T n.743C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.46725594T>A | CA510847723 | SLC2A10 | c.558T>A (p.Pro186=) c.621T>A (p.Pro207=) c.567T>A (p.Pro189=) n.757T>A n.744T>A | |
20 | g.46725594T>C | CA510847725 | SLC2A10 | c.558T>C (p.Pro186=) c.621T>C (p.Pro207=) c.567T>C (p.Pro189=) n.757T>C n.744T>C | |
20 | g.46725594T>G | CA510847724 | SLC2A10 | c.558T>G (p.Pro186=) c.621T>G (p.Pro207=) c.567T>G (p.Pro189=) n.757T>G n.744T>G | |
20 | g.46725595G>A | CA409267250 | SLC2A10 | c.559G>A (p.Ala187Thr) c.622G>A (p.Ala208Thr) c.568G>A (p.Ala190Thr) n.758G>A n.745G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.46725595G>C | CA409267251 | SLC2A10 | c.559G>C (p.Ala187Pro) c.622G>C (p.Ala208Pro) c.568G>C (p.Ala190Pro) n.758G>C n.745G>C | |
20 | g.46725595G= | CA2366796271 | SLC2A10 | c.559G= (p.Ala187=) c.622G= (p.Ala208=) c.568G= (p.Ala190=) n.758G= n.745G= | |
20 | g.46725595G>T | CA409267252 | SLC2A10 | c.559G>T (p.Ala187Ser) c.622G>T (p.Ala208Ser) c.568G>T (p.Ala190Ser) n.758G>T n.745G>T | |
20 | g.46725595_46725596delinsGC | CA2366796272 | SLC2A10 | c.559_560delinsGC (p.Ala187=) c.622_623delinsGC (p.Ala208=) c.568_569delinsGC (p.Ala190=) n.758_759delinsGC n.745_746delinsGC | |
20 | g.46725596del | CA636177764 | SLC2A10 | c.560del (p.Ala187ValfsTer?) c.623del (p.Ala208ValfsTer?) c.569del (p.Ala190ValfsTer?) n.759del n.746del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.46725596C>A | CA9892000 | SLC2A10 | c.560C>A (p.Ala187Asp) c.623C>A (p.Ala208Asp) c.569C>A (p.Ala190Asp) n.759C>A n.746C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.46725596C= | CA2366796273 | SLC2A10 | c.560C= (p.Ala187=) c.623C= (p.Ala208=) c.569C= (p.Ala190=) n.759C= n.746C= | |
20 | g.46725596C>G | CA409267254 | SLC2A10 | c.560C>G (p.Ala187Gly) c.623C>G (p.Ala208Gly) c.569C>G (p.Ala190Gly) n.759C>G n.746C>G | |
20 | g.46725596C>T | CA409267253 | SLC2A10 | c.560C>T (p.Ala187Val) c.623C>T (p.Ala208Val) c.569C>T (p.Ala190Val) n.759C>T n.746C>T | ClinVar dbSNP gnomAD v4 |
20 | g.46725597T>A | CA510847726 | SLC2A10 | c.561T>A (p.Ala187=) c.624T>A (p.Ala208=) c.570T>A (p.Ala190=) n.760T>A n.747T>A | |
20 | g.46725597T>C | CA510847727 | SLC2A10 | c.561T>C (p.Ala187=) c.624T>C (p.Ala208=) c.570T>C (p.Ala190=) n.760T>C n.747T>C | |
20 | g.46725597T>G | CA510847728 | SLC2A10 | c.561T>G (p.Ala187=) c.624T>G (p.Ala208=) c.570T>G (p.Ala190=) n.760T>G n.747T>G | |
20 | g.46725598G>A | CA409267255 | SLC2A10 | c.562G>A (p.Gly188Ser) c.625G>A (p.Gly209Ser) c.571G>A (p.Gly191Ser) n.761G>A n.748G>A | gnomAD v4 |
20 | g.46725598G>C | CA315755801 | SLC2A10 | c.562G>C (p.Gly188Arg) c.625G>C (p.Gly209Arg) c.571G>C (p.Gly191Arg) n.761G>C n.748G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.46725598G= | CA2366796274 | SLC2A10 | c.562G= (p.Gly188=) c.625G= (p.Gly209=) c.571G= (p.Gly191=) n.761G= n.748G= | |
20 | g.46725598G>T | CA409267256 | SLC2A10 | c.562G>T (p.Gly188Cys) c.625G>T (p.Gly209Cys) c.571G>T (p.Gly191Cys) n.761G>T n.748G>T | |
20 | g.46725599G>A | CA409267257 | SLC2A10 | c.563G>A (p.Gly188Asp) c.626G>A (p.Gly209Asp) c.572G>A (p.Gly191Asp) n.762G>A n.749G>A | |
20 | g.46725599G>C | CA409267258 | SLC2A10 | c.563G>C (p.Gly188Ala) c.626G>C (p.Gly209Ala) c.572G>C (p.Gly191Ala) n.762G>C n.749G>C | |
20 | g.46725599G>T | CA409267259 | SLC2A10 | c.563G>T (p.Gly188Val) c.626G>T (p.Gly209Val) c.572G>T (p.Gly191Val) n.762G>T n.749G>T | |
20 | g.46725600T>A | CA510847729 | SLC2A10 | c.564T>A (p.Gly188=) c.627T>A (p.Gly209=) c.573T>A (p.Gly191=) n.763T>A n.750T>A | |
20 | g.46725600T>C | CA510847730 | SLC2A10 | c.564T>C (p.Gly188=) c.627T>C (p.Gly209=) c.573T>C (p.Gly191=) n.763T>C n.750T>C | |
20 | g.46725600T>G | CA510847731 | SLC2A10 | c.564T>G (p.Gly188=) c.627T>G (p.Gly209=) c.573T>G (p.Gly191=) n.763T>G n.750T>G | gnomAD v4 |
20 | g.46725601A>C | CA409267260 | SLC2A10 | c.565A>C (p.Thr189Pro) c.628A>C (p.Thr210Pro) c.574A>C (p.Thr192Pro) n.764A>C n.751A>C | |
20 | g.46725601A>G | CA409267262 | SLC2A10 | c.565A>G (p.Thr189Ala) c.628A>G (p.Thr210Ala) c.574A>G (p.Thr192Ala) n.764A>G n.751A>G | |
20 | g.46725601A>T | CA409267261 | SLC2A10 | c.565A>T (p.Thr189Ser) c.628A>T (p.Thr210Ser) c.574A>T (p.Thr192Ser) n.764A>T n.751A>T | |
20 | g.46725602C>A | CA409267263 | SLC2A10 | c.566C>A (p.Thr189Lys) c.629C>A (p.Thr210Lys) c.575C>A (p.Thr192Lys) n.765C>A n.752C>A | |
20 | g.46725602C>G | CA409267264 | SLC2A10 | c.566C>G (p.Thr189Arg) c.629C>G (p.Thr210Arg) c.575C>G (p.Thr192Arg) n.765C>G n.752C>G | |
20 | g.46725602C>T | CA409267265 | SLC2A10 | c.566C>T (p.Thr189Ile) c.629C>T (p.Thr210Ile) c.575C>T (p.Thr192Ile) n.765C>T n.752C>T | ClinVar gnomAD v4 |
20 | g.46725603A>C | CA510847732 | SLC2A10 | c.567A>C (p.Thr189=) c.630A>C (p.Thr210=) c.576A>C (p.Thr192=) n.766A>C n.753A>C | |
20 | g.46725603A>G | CA510847733 | SLC2A10 | c.567A>G (p.Thr189=) c.630A>G (p.Thr210=) c.576A>G (p.Thr192=) n.766A>G n.753A>G | |
20 | g.46725603A>T | CA510847734 | SLC2A10 | c.567A>T (p.Thr189=) c.630A>T (p.Thr210=) c.576A>T (p.Thr192=) n.766A>T n.753A>T | |
20 | g.46725604G>A | CA409267266 | SLC2A10 | c.568G>A (p.Asp190Asn) c.631G>A (p.Asp211Asn) c.577G>A (p.Asp193Asn) n.767G>A n.754G>A | |
20 | g.46725604G>C | CA409267267 | SLC2A10 | c.568G>C (p.Asp190His) c.631G>C (p.Asp211His) c.577G>C (p.Asp193His) n.767G>C n.754G>C | |
20 | g.46725604G= | CA2366796275 | SLC2A10 | c.568G= (p.Asp190=) c.631G= (p.Asp211=) c.577G= (p.Asp193=) n.767G= n.754G= | |
20 | g.46725604G>T | CA9892001 | SLC2A10 | c.568G>T (p.Asp190Tyr) c.631G>T (p.Asp211Tyr) c.577G>T (p.Asp193Tyr) n.767G>T n.754G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.46725605A>C | CA409267268 | SLC2A10 | c.569A>C (p.Asp190Ala) c.632A>C (p.Asp211Ala) c.578A>C (p.Asp193Ala) n.768A>C n.755A>C | |
20 | g.46725605A>G | CA409267269 | SLC2A10 | c.569A>G (p.Asp190Gly) c.632A>G (p.Asp211Gly) c.578A>G (p.Asp193Gly) n.768A>G n.755A>G | |
20 | g.46725605A>T | CA409267270 | SLC2A10 | c.569A>T (p.Asp190Val) c.632A>T (p.Asp211Val) c.578A>T (p.Asp193Val) n.768A>T n.755A>T | |
20 | g.46725606T>A | CA409267271 | SLC2A10 | c.570T>A (p.Asp190Glu) c.633T>A (p.Asp211Glu) c.579T>A (p.Asp193Glu) n.769T>A n.756T>A | dbSNP gnomAD v3 gnomAD v4 |
20 | g.46725606T>C | CA510847735 | SLC2A10 | c.570T>C (p.Asp190=) c.633T>C (p.Asp211=) c.579T>C (p.Asp193=) n.769T>C n.756T>C | |
20 | g.46725606T>G | CA409267272 | SLC2A10 | c.570T>G (p.Asp190Glu) c.633T>G (p.Asp211Glu) c.579T>G (p.Asp193Glu) n.769T>G n.756T>G | dbSNP |
20 | g.46725606T= | CA2366796276 | SLC2A10 | c.570T= (p.Asp190=) c.633T= (p.Asp211=) c.579T= (p.Asp193=) n.769T= n.756T= | |
20 | g.46725607G>A | CA409267273 | SLC2A10 | c.571G>A (p.Glu191Lys) c.634G>A (p.Glu212Lys) c.580G>A (p.Glu194Lys) n.770G>A n.757G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.46725607G>C | CA409267275 | SLC2A10 | c.571G>C (p.Glu191Gln) c.634G>C (p.Glu212Gln) c.580G>C (p.Glu194Gln) n.770G>C n.757G>C | |
20 | g.46725607G= | CA2366796277 | SLC2A10 | c.571G= (p.Glu191=) c.634G= (p.Glu212=) c.580G= (p.Glu194=) n.770G= n.757G= | |
20 | g.46725607G>T | CA409267274 | SLC2A10 | c.571G>T (p.Glu191Ter) c.634G>T (p.Glu212Ter) c.580G>T (p.Glu194Ter) n.770G>T n.757G>T | |
20 | g.46725608A>C | CA409267276 | SLC2A10 | c.572A>C (p.Glu191Ala) c.635A>C (p.Glu212Ala) c.581A>C (p.Glu194Ala) n.771A>C n.758A>C | |
20 | g.46725608A>G | CA409267277 | SLC2A10 | c.572A>G (p.Glu191Gly) c.635A>G (p.Glu212Gly) c.581A>G (p.Glu194Gly) n.771A>G n.758A>G | |
20 | g.46725608A>T | CA409267278 | SLC2A10 | c.572A>T (p.Glu191Val) c.635A>T (p.Glu212Val) c.581A>T (p.Glu194Val) n.771A>T n.758A>T | |
20 | g.46725609G>A | CA510847736 | SLC2A10 | c.573G>A (p.Glu191=) c.636G>A (p.Glu212=) c.582G>A (p.Glu194=) n.772G>A n.759G>A | |
20 | g.46725609G>C | CA409267279 | SLC2A10 | c.573G>C (p.Glu191Asp) c.636G>C (p.Glu212Asp) c.582G>C (p.Glu194Asp) n.772G>C n.759G>C | |
20 | g.46725609G>T | CA409267281 | SLC2A10 | c.573G>T (p.Glu191Asp) c.636G>T (p.Glu212Asp) c.582G>T (p.Glu194Asp) n.772G>T n.759G>T | gnomAD v4 |
20 | g.46725610A>C | CA409267282 | SLC2A10 | c.574A>C (p.Thr192Pro) c.637A>C (p.Thr213Pro) c.583A>C (p.Thr195Pro) n.773A>C n.760A>C | |
20 | g.46725610A>G | CA409267283 | SLC2A10 | c.574A>G (p.Thr192Ala) c.637A>G (p.Thr213Ala) c.583A>G (p.Thr195Ala) n.773A>G n.760A>G | |
20 | g.46725610A>T | CA409267284 | SLC2A10 | c.574A>T (p.Thr192Ser) c.637A>T (p.Thr213Ser) c.583A>T (p.Thr195Ser) n.773A>T n.760A>T | |
20 | g.46725611C>A | CA409267285 | SLC2A10 | c.575C>A (p.Thr192Asn) c.638C>A (p.Thr213Asn) c.584C>A (p.Thr195Asn) n.774C>A n.761C>A | dbSNP |
20 | g.46725611C= | CA2366796278 | SLC2A10 | c.575C= (p.Thr192=) c.638C= (p.Thr213=) c.584C= (p.Thr195=) n.774C= n.761C= | |
20 | g.46725611C>G | CA409267286 | SLC2A10 | c.575C>G (p.Thr192Ser) c.638C>G (p.Thr213Ser) c.584C>G (p.Thr195Ser) n.774C>G n.761C>G | |
20 | g.46725611C>T | CA409267287 | SLC2A10 | c.575C>T (p.Thr192Ile) c.638C>T (p.Thr213Ile) c.584C>T (p.Thr195Ile) n.774C>T n.761C>T | |
20 | g.46725612T>A | CA510847737 | SLC2A10 | c.576T>A (p.Thr192=) c.639T>A (p.Thr213=) c.585T>A (p.Thr195=) n.775T>A n.762T>A | |
20 | g.46725612T>C | CA510847738 | SLC2A10 | c.576T>C (p.Thr192=) c.639T>C (p.Thr213=) c.585T>C (p.Thr195=) n.775T>C n.762T>C | |
20 | g.46725612T>G | CA510847739 | SLC2A10 | c.576T>G (p.Thr192=) c.639T>G (p.Thr213=) c.585T>G (p.Thr195=) n.775T>G n.762T>G | |
20 | g.46725613G>A | CA315755821 | SLC2A10 | c.577G>A (p.Ala193Thr) c.640G>A (p.Ala214Thr) c.586G>A (p.Ala196Thr) n.776G>A n.763G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.46725613G>C | CA409267289 | SLC2A10 | c.577G>C (p.Ala193Pro) c.640G>C (p.Ala214Pro) c.586G>C (p.Ala196Pro) n.776G>C n.763G>C | |
20 | g.46725613G= | CA2366796279 | SLC2A10 | c.577G= (p.Ala193=) c.640G= (p.Ala214=) c.586G= (p.Ala196=) n.776G= n.763G= | |
20 | g.46725613G>T | CA409267288 | SLC2A10 | c.577G>T (p.Ala193Ser) c.640G>T (p.Ala214Ser) c.586G>T (p.Ala196Ser) n.776G>T n.763G>T | |
20 | g.46725614C>A | CA409267290 | SLC2A10 | c.578C>A (p.Ala193Glu) c.641C>A (p.Ala214Glu) c.587C>A (p.Ala196Glu) n.777C>A n.764C>A | dbSNP |
20 | g.46725614C= | CA2366796280 | SLC2A10 | c.578C= (p.Ala193=) c.641C= (p.Ala214=) c.587C= (p.Ala196=) n.777C= n.764C= | |
20 | g.46725614C>G | CA409267291 | SLC2A10 | c.578C>G (p.Ala193Gly) c.641C>G (p.Ala214Gly) c.587C>G (p.Ala196Gly) n.777C>G n.764C>G | |
20 | g.46725614C>T | CA409267292 | SLC2A10 | c.578C>T (p.Ala193Val) c.641C>T (p.Ala214Val) c.587C>T (p.Ala196Val) n.777C>T n.764C>T | dbSNP gnomAD v2 |
20 | g.46725615A>C | CA510847740 | SLC2A10 | c.579A>C (p.Ala193=) c.642A>C (p.Ala214=) c.588A>C (p.Ala196=) n.778A>C n.765A>C | |
20 | g.46725615A>G | CA510847741 | SLC2A10 | c.579A>G (p.Ala193=) c.642A>G (p.Ala214=) c.588A>G (p.Ala196=) n.778A>G n.765A>G | ClinVar gnomAD v4 |
20 | g.46725615A>T | CA510847742 | SLC2A10 | c.579A>T (p.Ala193=) c.642A>T (p.Ala214=) c.588A>T (p.Ala196=) n.778A>T n.765A>T | |
20 | g.46725616A>C | CA409267293 | SLC2A10 | c.580A>C (p.Thr194Pro) c.643A>C (p.Thr215Pro) c.589A>C (p.Thr197Pro) n.779A>C n.766A>C | |
20 | g.46725616A>G | CA409267294 | SLC2A10 | c.580A>G (p.Thr194Ala) c.643A>G (p.Thr215Ala) c.589A>G (p.Thr197Ala) n.779A>G n.766A>G | dbSNP gnomAD v3 gnomAD v4 |
20 | g.46725616A>T | CA409267295 | SLC2A10 | c.580A>T (p.Thr194Ser) c.643A>T (p.Thr215Ser) c.589A>T (p.Thr197Ser) n.779A>T n.766A>T | |
20 | g.46725617C>A | CA409267296 | SLC2A10 | c.581C>A (p.Thr194Lys) c.644C>A (p.Thr215Lys) c.590C>A (p.Thr197Lys) n.780C>A n.767C>A | |
20 | g.46725617C= | CA2366796281 | SLC2A10 | c.581C= (p.Thr194=) c.644C= (p.Thr215=) c.590C= (p.Thr197=) n.780C= n.767C= | |
20 | g.46725617C>G | CA409267297 | SLC2A10 | c.581C>G (p.Thr194Arg) c.644C>G (p.Thr215Arg) c.590C>G (p.Thr197Arg) n.780C>G n.767C>G | |
20 | g.46725617C>T | CA9892002 | SLC2A10 | c.581C>T (p.Thr194Ile) c.644C>T (p.Thr215Ile) c.590C>T (p.Thr197Ile) n.780C>T n.767C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.46725617_46725618insCCACAACCAAACACACCCA | CA2816531406 | SLC2A10 | c.581_582insCCACAACCAAACACACCCA (p.Lys196AsnfsTer16) c.644_645insCCACAACCAAACACACCCA (p.Lys217AsnfsTer16) c.590_591insCCACAACCAAACACACCCA (p.Lys199AsnfsTer16) n.780_781insCCACAACCAAACACACCCA n.767_768insCCACAACCAAACACACCCA | |
20 | g.46725618A>C | CA510847743 | SLC2A10 | c.582A>C (p.Thr194=) c.645A>C (p.Thr215=) c.591A>C (p.Thr197=) n.781A>C n.768A>C | |
20 | g.46725618A>G | CA510847744 | SLC2A10 | c.582A>G (p.Thr194=) c.645A>G (p.Thr215=) c.591A>G (p.Thr197=) n.781A>G n.768A>G | |
20 | g.46725618A>T | CA510847745 | SLC2A10 | c.582A>T (p.Thr194=) c.645A>T (p.Thr215=) c.591A>T (p.Thr197=) n.781A>T n.768A>T | |
20 | g.46725619C>A | CA409267298 | SLC2A10 | c.583C>A (p.His195Asn) c.646C>A (p.His216Asn) c.592C>A (p.His198Asn) n.782C>A n.769C>A | |
20 | g.46725619C>G | CA409267299 | SLC2A10 | c.583C>G (p.His195Asp) c.646C>G (p.His216Asp) c.592C>G (p.His198Asp) n.782C>G n.769C>G | |
20 | g.46725619C>T | CA409267300 | SLC2A10 | c.583C>T (p.His195Tyr) c.646C>T (p.His216Tyr) c.592C>T (p.His198Tyr) n.782C>T n.769C>T |