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.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 | |
20 | g.46725620A= | CA2366796282 | SLC2A10 | c.584A= (p.His195=) c.647A= (p.His216=) c.593A= (p.His198=) n.783A= n.770A= | |
20 | g.46725620A>C | CA409267301 | SLC2A10 | c.584A>C (p.His195Pro) c.647A>C (p.His216Pro) c.593A>C (p.His198Pro) n.783A>C n.770A>C | dbSNP gnomAD v3 gnomAD v4 |
20 | g.46725620A>G | CA409267303 | SLC2A10 | c.584A>G (p.His195Arg) c.647A>G (p.His216Arg) c.593A>G (p.His198Arg) n.783A>G n.770A>G | |
20 | g.46725620A>T | CA409267302 | SLC2A10 | c.584A>T (p.His195Leu) c.647A>T (p.His216Leu) c.593A>T (p.His198Leu) n.783A>T n.770A>T | |
20 | g.46725621C>A | CA409267304 | SLC2A10 | c.585C>A (p.His195Gln) c.648C>A (p.His216Gln) c.594C>A (p.His198Gln) n.784C>A n.771C>A | gnomAD v4 |
20 | g.46725621C>G | CA409267305 | SLC2A10 | c.585C>G (p.His195Gln) c.648C>G (p.His216Gln) c.594C>G (p.His198Gln) n.784C>G n.771C>G | |
20 | g.46725621C>T | CA510847746 | SLC2A10 | c.585C>T (p.His195=) c.648C>T (p.His216=) c.594C>T (p.His198=) n.784C>T n.771C>T | ClinVar |
20 | g.46725622A= | CA2366796283 | SLC2A10 | c.586A= (p.Lys196=) c.649A= (p.Lys217=) c.595A= (p.Lys199=) n.785A= n.772A= | |
20 | g.46725622A>C | CA409267308 | SLC2A10 | c.586A>C (p.Lys196Gln) c.649A>C (p.Lys217Gln) c.595A>C (p.Lys199Gln) n.785A>C n.772A>C | dbSNP gnomAD v2 gnomAD v4 |
20 | g.46725622A>G | CA409267312 | SLC2A10 | c.586A>G (p.Lys196Glu) c.649A>G (p.Lys217Glu) c.595A>G (p.Lys199Glu) n.785A>G n.772A>G | dbSNP |
20 | g.46725622A>T | CA409267310 | SLC2A10 | c.586A>T (p.Lys196Ter) c.649A>T (p.Lys217Ter) c.595A>T (p.Lys199Ter) n.785A>T n.772A>T | |
20 | g.46725623A= | CA2366796284 | SLC2A10 | c.587A= (p.Lys196=) c.650A= (p.Lys217=) c.596A= (p.Lys199=) n.786A= n.773A= | |
20 | g.46725623A>C | CA409267315 | SLC2A10 | c.587A>C (p.Lys196Thr) c.650A>C (p.Lys217Thr) c.596A>C (p.Lys199Thr) n.786A>C n.773A>C | |
20 | g.46725623A>G | CA409267318 | SLC2A10 | c.587A>G (p.Lys196Arg) c.650A>G (p.Lys217Arg) c.596A>G (p.Lys199Arg) n.786A>G n.773A>G | |
20 | g.46725623A>T | CA320063 | SLC2A10 | c.587A>T (p.Lys196Met) c.650A>T (p.Lys217Met) c.596A>T (p.Lys199Met) n.786A>T n.773A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.46725624G>A | CA510847747 | SLC2A10 | c.588G>A (p.Lys196=) c.651G>A (p.Lys217=) c.597G>A (p.Lys199=) n.787G>A n.774G>A | |
20 | g.46725624G>C | CA409267319 | SLC2A10 | c.588G>C (p.Lys196Asn) c.651G>C (p.Lys217Asn) c.597G>C (p.Lys199Asn) n.787G>C n.774G>C | |
20 | g.46725624G>T | CA409267321 | SLC2A10 | c.588G>T (p.Lys196Asn) c.651G>T (p.Lys217Asn) c.597G>T (p.Lys199Asn) n.787G>T n.774G>T | |
20 | g.46725625G>A | CA409267323 | SLC2A10 | c.589G>A (p.Asp197Asn) c.652G>A (p.Asp218Asn) c.598G>A (p.Asp200Asn) n.788G>A n.775G>A | gnomAD v4 COSMIC |
20 | g.46725625G>C | CA409267326 | SLC2A10 | c.589G>C (p.Asp197His) c.652G>C (p.Asp218His) c.598G>C (p.Asp200His) n.788G>C n.775G>C | |
20 | g.46725625G= | CA2366796285 | SLC2A10 | c.589G= (p.Asp197=) c.652G= (p.Asp218=) c.598G= (p.Asp200=) n.788G= n.775G= | |
20 | g.46725625G>T | CA9892003 | SLC2A10 | c.589G>T (p.Asp197Tyr) c.652G>T (p.Asp218Tyr) c.598G>T (p.Asp200Tyr) n.788G>T n.775G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.46725626A= | CA2366796286 | SLC2A10 | c.590A= (p.Asp197=) c.653A= (p.Asp218=) c.599A= (p.Asp200=) n.789A= n.776A= | |
20 | g.46725626A>C | CA409267328 | SLC2A10 | c.590A>C (p.Asp197Ala) c.653A>C (p.Asp218Ala) c.599A>C (p.Asp200Ala) n.789A>C n.776A>C | |
20 | g.46725626A>G | CA409267330 | SLC2A10 | c.590A>G (p.Asp197Gly) c.653A>G (p.Asp218Gly) c.599A>G (p.Asp200Gly) n.789A>G n.776A>G | ClinVar dbSNP |
20 | g.46725626A>T | CA409267331 | SLC2A10 | c.590A>T (p.Asp197Val) c.653A>T (p.Asp218Val) c.599A>T (p.Asp200Val) n.789A>T n.776A>T | gnomAD v4 |
20 | g.46725627C>A | CA409267333 | SLC2A10 | c.591C>A (p.Asp197Glu) c.654C>A (p.Asp218Glu) c.600C>A (p.Asp200Glu) n.790C>A n.777C>A | gnomAD v4 |
20 | g.46725627C>G | CA409267335 | SLC2A10 | c.591C>G (p.Asp197Glu) c.654C>G (p.Asp218Glu) c.600C>G (p.Asp200Glu) n.790C>G n.777C>G | |
20 | g.46725627C>T | CA510847748 | SLC2A10 | c.591C>T (p.Asp197=) c.654C>T (p.Asp218=) c.600C>T (p.Asp200=) n.790C>T n.777C>T | |
20 | g.46725628C>A | CA409267337 | SLC2A10 | c.592C>A (p.Leu198Ile) c.655C>A (p.Leu219Ile) c.601C>A (p.Leu201Ile) n.791C>A n.778C>A | |
20 | g.46725628C= | CA2366796287 | SLC2A10 | c.592C= (p.Leu198=) c.655C= (p.Leu219=) c.601C= (p.Leu201=) n.791C= n.778C= | |
20 | g.46725628C>G | CA409267338 | SLC2A10 | c.592C>G (p.Leu198Val) c.655C>G (p.Leu219Val) c.601C>G (p.Leu201Val) n.791C>G n.778C>G | |
20 | g.46725628C>T | CA409267339 | SLC2A10 | c.592C>T (p.Leu198Phe) c.655C>T (p.Leu219Phe) c.601C>T (p.Leu201Phe) n.791C>T n.778C>T | dbSNP gnomAD v2 gnomAD v4 |
20 | g.46725629T>A | CA409267342 | SLC2A10 | c.593T>A (p.Leu198His) c.656T>A (p.Leu219His) c.602T>A (p.Leu201His) n.792T>A n.779T>A | |
20 | g.46725629T>C | CA409267344 | SLC2A10 | c.593T>C (p.Leu198Pro) c.656T>C (p.Leu219Pro) c.602T>C (p.Leu201Pro) n.792T>C n.779T>C | |
20 | g.46725629T>G | CA409267345 | SLC2A10 | c.593T>G (p.Leu198Arg) c.656T>G (p.Leu219Arg) c.602T>G (p.Leu201Arg) n.792T>G n.779T>G | |
20 | g.46725630C>A | CA510847750 | SLC2A10 | c.594C>A (p.Leu198=) c.657C>A (p.Leu219=) c.603C>A (p.Leu201=) n.793C>A n.780C>A | |
20 | g.46725630C>G | CA510847751 | SLC2A10 | c.594C>G (p.Leu198=) c.657C>G (p.Leu219=) c.603C>G (p.Leu201=) n.793C>G n.780C>G | |
20 | g.46725630C>T | CA510847749 | SLC2A10 | c.594C>T (p.Leu198=) c.657C>T (p.Leu219=) c.603C>T (p.Leu201=) n.793C>T n.780C>T | |
20 | g.46725631A>C | CA409267353 | SLC2A10 | c.595A>C (p.Ile199Leu) c.658A>C (p.Ile220Leu) c.604A>C (p.Ile202Leu) n.794A>C n.781A>C | gnomAD v4 |
20 | g.46725631A>G | CA409267348 | SLC2A10 | c.595A>G (p.Ile199Val) c.658A>G (p.Ile220Val) c.604A>G (p.Ile202Val) n.794A>G n.781A>G | ClinVar |
20 | g.46725631A>T | CA409267350 | SLC2A10 | c.595A>T (p.Ile199Phe) c.658A>T (p.Ile220Phe) c.604A>T (p.Ile202Phe) n.794A>T n.781A>T | |
20 | g.46725632T>A | CA409267358 | SLC2A10 | c.596T>A (p.Ile199Asn) c.659T>A (p.Ile220Asn) c.605T>A (p.Ile202Asn) n.795T>A n.782T>A | |
20 | g.46725632T>C | CA409267359 | SLC2A10 | c.596T>C (p.Ile199Thr) c.659T>C (p.Ile220Thr) c.605T>C (p.Ile202Thr) n.795T>C n.782T>C | |
20 | g.46725632T>G | CA409267360 | SLC2A10 | c.596T>G (p.Ile199Ser) c.659T>G (p.Ile220Ser) c.605T>G (p.Ile202Ser) n.795T>G n.782T>G | |
20 | g.46725633C>A | CA510847753 | SLC2A10 | c.597C>A (p.Ile199=) c.660C>A (p.Ile220=) c.606C>A (p.Ile202=) n.796C>A n.783C>A | |
20 | g.46725633C>G | CA409267361 | SLC2A10 | c.597C>G (p.Ile199Met) c.660C>G (p.Ile220Met) c.606C>G (p.Ile202Met) n.796C>G n.783C>G | |
20 | g.46725633C>T | CA510847752 | SLC2A10 | c.597C>T (p.Ile199=) c.660C>T (p.Ile220=) c.606C>T (p.Ile202=) n.796C>T n.783C>T | COSMIC |
20 | g.46725635del | CA2816531410 | SLC2A10 | c.599del (p.Pro200HisfsTer?) c.662del (p.Pro221HisfsTer?) c.608del (p.Pro203HisfsTer?) n.798del n.785del | |
20 | g.46725634C>A | CA409267363 | SLC2A10 | c.598C>A (p.Pro200Thr) c.661C>A (p.Pro221Thr) c.607C>A (p.Pro203Thr) n.797C>A n.784C>A | |
20 | g.46725634C= | CA2366796288 | SLC2A10 | c.598C= (p.Pro200=) c.661C= (p.Pro221=) c.607C= (p.Pro203=) n.797C= n.784C= | |
20 | g.46725634C>G | CA409267365 | SLC2A10 | c.598C>G (p.Pro200Ala) c.661C>G (p.Pro221Ala) c.607C>G (p.Pro203Ala) n.797C>G n.784C>G | |
20 | g.46725634C>T | CA9892004 | SLC2A10 | c.598C>T (p.Pro200Ser) c.661C>T (p.Pro221Ser) c.607C>T (p.Pro203Ser) n.797C>T n.784C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
20 | g.46725635C>A | CA409267366 | SLC2A10 | c.599C>A (p.Pro200Gln) c.662C>A (p.Pro221Gln) c.608C>A (p.Pro203Gln) n.798C>A n.785C>A | |
20 | g.46725635C= | CA2366796289 | SLC2A10 | c.599C= (p.Pro200=) c.662C= (p.Pro221=) c.608C= (p.Pro203=) n.798C= n.785C= | |
20 | g.46725635C>G | CA9892005 | SLC2A10 | c.599C>G (p.Pro200Arg) c.662C>G (p.Pro221Arg) c.608C>G (p.Pro203Arg) n.798C>G n.785C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.46725635C>T | CA409267370 | SLC2A10 | c.599C>T (p.Pro200Leu) c.662C>T (p.Pro221Leu) c.608C>T (p.Pro203Leu) n.798C>T n.785C>T | gnomAD v4 |
20 | g.46725636A>C | CA510847754 | SLC2A10 | c.600A>C (p.Pro200=) c.663A>C (p.Pro221=) c.609A>C (p.Pro203=) n.799A>C n.786A>C | |
20 | g.46725636A>G | CA510847756 | SLC2A10 | c.600A>G (p.Pro200=) c.663A>G (p.Pro221=) c.609A>G (p.Pro203=) n.799A>G n.786A>G | |
20 | g.46725636A>T | CA510847755 | SLC2A10 | c.600A>T (p.Pro200=) c.663A>T (p.Pro221=) c.609A>T (p.Pro203=) n.799A>T n.786A>T | |
20 | g.46725637C>A | CA409267374 | SLC2A10 | c.601C>A (p.Leu201Ile) c.664C>A (p.Leu222Ile) c.610C>A (p.Leu204Ile) n.800C>A n.787C>A | |
20 | g.46725637C= | CA2366796290 | SLC2A10 | c.601C= (p.Leu201=) c.664C= (p.Leu222=) c.610C= (p.Leu204=) n.800C= n.787C= | |
20 | g.46725637C>G | CA409267372 | SLC2A10 | c.601C>G (p.Leu201Val) c.664C>G (p.Leu222Val) c.610C>G (p.Leu204Val) n.800C>G n.787C>G | |
20 | g.46725637C>T | CA9892006 | SLC2A10 | c.601C>T (p.Leu201Phe) c.664C>T (p.Leu222Phe) c.610C>T (p.Leu204Phe) n.800C>T n.787C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.46725638T>A | CA409267377 | SLC2A10 | c.602T>A (p.Leu201His) c.665T>A (p.Leu222His) c.611T>A (p.Leu204His) n.801T>A n.788T>A | |
20 | g.46725638T>C | CA409267378 | SLC2A10 | c.602T>C (p.Leu201Pro) c.665T>C (p.Leu222Pro) c.611T>C (p.Leu204Pro) n.801T>C n.788T>C | |
20 | g.46725638T>G | CA409267383 | SLC2A10 | c.602T>G (p.Leu201Arg) c.665T>G (p.Leu222Arg) c.611T>G (p.Leu204Arg) n.801T>G n.788T>G | |
20 | g.46725639C>A | CA510847757 | SLC2A10 | c.603C>A (p.Leu201=) c.666C>A (p.Leu222=) c.612C>A (p.Leu204=) n.802C>A n.789C>A | |
20 | g.46725639C>G | CA510847758 | SLC2A10 | c.603C>G (p.Leu201=) c.666C>G (p.Leu222=) c.612C>G (p.Leu204=) n.802C>G n.789C>G | |
20 | g.46725639C>T | CA510847759 | SLC2A10 | c.603C>T (p.Leu201=) c.666C>T (p.Leu222=) c.612C>T (p.Leu204=) n.802C>T n.789C>T | ClinVar |
20 | g.46725640C>A | CA409267386 | SLC2A10 | c.604C>A (p.Gln202Lys) c.667C>A (p.Gln223Lys) c.613C>A (p.Gln205Lys) n.803C>A n.790C>A | |
20 | g.46725640C>G | CA409267388 | SLC2A10 | c.604C>G (p.Gln202Glu) c.667C>G (p.Gln223Glu) c.613C>G (p.Gln205Glu) n.803C>G n.790C>G | ClinVar |
20 | g.46725640C>T | CA409267390 | SLC2A10 | c.604C>T (p.Gln202Ter) c.667C>T (p.Gln223Ter) c.613C>T (p.Gln205Ter) n.803C>T n.790C>T | |
20 | g.46725641A= | CA2366796291 | SLC2A10 | c.605A= (p.Gln202=) c.668A= (p.Gln223=) c.614A= (p.Gln205=) n.804A= n.791A= | |
20 | g.46725641A>C | CA409267391 | SLC2A10 | c.605A>C (p.Gln202Pro) c.668A>C (p.Gln223Pro) c.614A>C (p.Gln205Pro) n.804A>C n.791A>C | dbSNP gnomAD v3 gnomAD v4 |
20 | g.46725641A>G | CA409267392 | SLC2A10 | c.605A>G (p.Gln202Arg) c.668A>G (p.Gln223Arg) c.614A>G (p.Gln205Arg) n.804A>G n.791A>G | |
20 | g.46725641A>T | CA409267394 | SLC2A10 | c.605A>T (p.Gln202Leu) c.668A>T (p.Gln223Leu) c.614A>T (p.Gln205Leu) n.804A>T n.791A>T | |
20 | g.46725642G>A | CA510847760 | SLC2A10 | c.606G>A (p.Gln202=) c.669G>A (p.Gln223=) c.615G>A (p.Gln205=) n.805G>A n.792G>A | |
20 | g.46725642G>C | CA409267396 | SLC2A10 | c.606G>C (p.Gln202His) c.669G>C (p.Gln223His) c.615G>C (p.Gln205His) n.805G>C n.792G>C | |
20 | g.46725642G>T | CA409267398 | SLC2A10 | c.606G>T (p.Gln202His) c.669G>T (p.Gln223His) c.615G>T (p.Gln205His) n.805G>T n.792G>T | |
20 | g.46725643_46725644del | CA2653170901 | SLC2A10 | c.607_608del (p.Gly203ArgfsTer2) c.670_671del (p.Gly224ArgfsTer2) c.616_617del (p.Gly206ArgfsTer2) n.806_807del n.793_794del | gnomAD v4 |
20 | g.46725643G>A | CA409267404 | SLC2A10 | c.607G>A (p.Gly203Arg) c.670G>A (p.Gly224Arg) c.616G>A (p.Gly206Arg) n.806G>A n.793G>A | COSMIC |
20 | g.46725643G>C | CA409267402 | SLC2A10 | c.607G>C (p.Gly203Arg) c.670G>C (p.Gly224Arg) c.616G>C (p.Gly206Arg) n.806G>C n.793G>C | |
20 | g.46725643G>T | CA409267401 | SLC2A10 | c.607G>T (p.Gly203Ter) c.670G>T (p.Gly224Ter) c.616G>T (p.Gly206Ter) n.806G>T n.793G>T | |
20 | g.46725644G>A | CA9892007 | SLC2A10 | c.608G>A (p.Gly203Glu) c.671G>A (p.Gly224Glu) c.617G>A (p.Gly206Glu) n.807G>A n.794G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.46725644G>C | CA409267407 | SLC2A10 | c.608G>C (p.Gly203Ala) c.671G>C (p.Gly224Ala) c.617G>C (p.Gly206Ala) n.807G>C n.794G>C | |
20 | g.46725644G= | CA2366796292 | SLC2A10 | c.608G= (p.Gly203=) c.671G= (p.Gly224=) c.617G= (p.Gly206=) n.807G= n.794G= | |
20 | g.46725644G>T | CA409267409 | SLC2A10 | c.608G>T (p.Gly203Val) c.671G>T (p.Gly224Val) c.617G>T (p.Gly206Val) n.807G>T n.794G>T | |
20 | g.46725645A= | CA2366796293 | SLC2A10 | c.609A= (p.Gly203=) c.672A= (p.Gly224=) c.618A= (p.Gly206=) n.808A= n.795A= | |
20 | g.46725645A>C | CA510847761 | SLC2A10 | c.609A>C (p.Gly203=) c.672A>C (p.Gly224=) c.618A>C (p.Gly206=) n.808A>C n.795A>C | |
20 | g.46725645A>G | CA9892008 | SLC2A10 | c.609A>G (p.Gly203=) c.672A>G (p.Gly224=) c.618A>G (p.Gly206=) n.808A>G n.795A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.46725645A>T | CA510847762 | SLC2A10 | c.609A>T (p.Gly203=) c.672A>T (p.Gly224=) c.618A>T (p.Gly206=) n.808A>T n.795A>T | |
20 | g.46725646G>A | CA9892009 | SLC2A10 | c.610G>A (p.Gly204Ser) c.673G>A (p.Gly225Ser) c.619G>A (p.Gly207Ser) n.809G>A n.796G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
20 | g.46725646G>C | CA409267414 | SLC2A10 | c.610G>C (p.Gly204Arg) c.673G>C (p.Gly225Arg) c.619G>C (p.Gly207Arg) n.809G>C n.796G>C | |
20 | g.46725646G= | CA2366796294 | SLC2A10 | c.610G= (p.Gly204=) c.673G= (p.Gly225=) c.619G= (p.Gly207=) n.809G= n.796G= | |
20 | g.46725646G>T | CA409267416 | SLC2A10 | c.610G>T (p.Gly204Cys) c.673G>T (p.Gly225Cys) c.619G>T (p.Gly207Cys) n.809G>T n.796G>T | |
20 | g.46725647G>A | CA409267419 | SLC2A10 | c.611G>A (p.Gly204Asp) c.674G>A (p.Gly225Asp) c.620G>A (p.Gly207Asp) n.810G>A n.797G>A | ClinVar dbSNP |
20 | g.46725647G>C | CA409267421 | SLC2A10 | c.611G>C (p.Gly204Ala) c.674G>C (p.Gly225Ala) c.620G>C (p.Gly207Ala) n.810G>C n.797G>C | |
20 | g.46725647G= | CA2366796295 | SLC2A10 | c.611G= (p.Gly204=) c.674G= (p.Gly225=) c.620G= (p.Gly207=) n.810G= n.797G= | |
20 | g.46725647G>T | CA409267423 | SLC2A10 | c.611G>T (p.Gly204Val) c.674G>T (p.Gly225Val) c.620G>T (p.Gly207Val) n.810G>T n.797G>T | gnomAD v4 |
20 | g.46725648T>A | CA510847763 | SLC2A10 | c.612T>A (p.Gly204=) c.675T>A (p.Gly225=) c.621T>A (p.Gly207=) n.811T>A n.798T>A | |
20 | g.46725648T>C | CA510847764 | SLC2A10 | c.612T>C (p.Gly204=) c.675T>C (p.Gly225=) c.621T>C (p.Gly207=) n.811T>C n.798T>C | |
20 | g.46725648T>G | CA510847765 | SLC2A10 | c.612T>G (p.Gly204=) c.675T>G (p.Gly225=) c.621T>G (p.Gly207=) n.811T>G n.798T>G | |
20 | g.46725649G>A | CA315755870 | SLC2A10 | c.613G>A (p.Glu205Lys) c.676G>A (p.Glu226Lys) c.622G>A (p.Glu208Lys) n.812G>A n.799G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.46725649G>C | CA409267424 | SLC2A10 | c.613G>C (p.Glu205Gln) c.676G>C (p.Glu226Gln) c.622G>C (p.Glu208Gln) n.812G>C n.799G>C | |
20 | g.46725649G= | CA2366796296 | SLC2A10 | c.613G= (p.Glu205=) c.676G= (p.Glu226=) c.622G= (p.Glu208=) n.812G= n.799G= | |
20 | g.46725649G>T | CA409267426 | SLC2A10 | c.613G>T (p.Glu205Ter) c.676G>T (p.Glu226Ter) c.622G>T (p.Glu208Ter) n.812G>T n.799G>T | |
20 | g.46725650A>C | CA409267439 | SLC2A10 | c.614A>C (p.Glu205Ala) c.677A>C (p.Glu226Ala) c.623A>C (p.Glu208Ala) n.813A>C n.800A>C | gnomAD v4 |
20 | g.46725650A>G | CA409267441 | SLC2A10 | c.614A>G (p.Glu205Gly) c.677A>G (p.Glu226Gly) c.623A>G (p.Glu208Gly) n.813A>G n.800A>G | |
20 | g.46725650A>T | CA409267437 | SLC2A10 | c.614A>T (p.Glu205Val) c.677A>T (p.Glu226Val) c.623A>T (p.Glu208Val) n.813A>T n.800A>T | |
20 | g.46725651G>A | CA510847766 | SLC2A10 | c.615G>A (p.Glu205=) c.678G>A (p.Glu226=) c.624G>A (p.Glu208=) n.814G>A n.801G>A | ClinVar dbSNP |
20 | g.46725651G>C | CA409267444 | SLC2A10 | c.615G>C (p.Glu205Asp) c.678G>C (p.Glu226Asp) c.624G>C (p.Glu208Asp) n.814G>C n.801G>C | |
20 | g.46725651G>T | CA409267442 | SLC2A10 | c.615G>T (p.Glu205Asp) c.678G>T (p.Glu226Asp) c.624G>T (p.Glu208Asp) n.814G>T n.801G>T | |
20 | g.46725652G>A | CA302822 | SLC2A10 | c.616G>A (p.Ala206Thr) c.679G>A (p.Ala227Thr) c.625G>A (p.Ala209Thr) n.815G>A n.802G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.46725652G>C | CA409267447 | SLC2A10 | c.616G>C (p.Ala206Pro) c.679G>C (p.Ala227Pro) c.625G>C (p.Ala209Pro) n.815G>C n.802G>C | |
20 | g.46725652G= | CA2366796297 | SLC2A10 | c.616G= (p.Ala206=) c.679G= (p.Ala227=) c.625G= (p.Ala209=) n.815G= n.802G= | |
20 | g.46725652G>T | CA409267449 | SLC2A10 | c.616G>T (p.Ala206Ser) c.679G>T (p.Ala227Ser) c.625G>T (p.Ala209Ser) n.815G>T n.802G>T | |
20 | g.46725653C>A | CA409267451 | SLC2A10 | c.617C>A (p.Ala206Asp) c.680C>A (p.Ala227Asp) c.626C>A (p.Ala209Asp) n.816C>A n.803C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.46725653C= | CA2366796298 | SLC2A10 | c.617C= (p.Ala206=) c.680C= (p.Ala227=) c.626C= (p.Ala209=) n.816C= n.803C= | |
20 | g.46725653C>G | CA409267453 | SLC2A10 | c.617C>G (p.Ala206Gly) c.680C>G (p.Ala227Gly) c.626C>G (p.Ala209Gly) n.816C>G n.803C>G | |
20 | g.46725653C>T | CA315755874 | SLC2A10 | c.617C>T (p.Ala206Val) c.680C>T (p.Ala227Val) c.626C>T (p.Ala209Val) n.816C>T n.803C>T | ClinVar dbSNP gnomAD v4 |
20 | g.46725654C>A | CA510847767 | SLC2A10 | c.618C>A (p.Ala206=) c.681C>A (p.Ala227=) c.627C>A (p.Ala209=) n.817C>A n.804C>A | |
20 | g.46725654C>G | CA510847769 | SLC2A10 | c.618C>G (p.Ala206=) c.681C>G (p.Ala227=) c.627C>G (p.Ala209=) n.817C>G n.804C>G | |
20 | g.46725654C>T | CA510847768 | SLC2A10 | c.618C>T (p.Ala206=) c.681C>T (p.Ala227=) c.627C>T (p.Ala209=) n.817C>T n.804C>T | |
20 | g.46725655C>A | CA409267457 | SLC2A10 | c.619C>A (p.Pro207Thr) c.682C>A (p.Pro228Thr) c.628C>A (p.Pro210Thr) n.818C>A n.805C>A | |
20 | g.46725655C>G | CA409267458 | SLC2A10 | c.619C>G (p.Pro207Ala) c.682C>G (p.Pro228Ala) c.628C>G (p.Pro210Ala) n.818C>G n.805C>G | |
20 | g.46725655C>T | CA409267461 | SLC2A10 | c.619C>T (p.Pro207Ser) c.682C>T (p.Pro228Ser) c.628C>T (p.Pro210Ser) n.818C>T n.805C>T | COSMIC |
20 | g.46725656C>A | CA409267464 | SLC2A10 | c.620C>A (p.Pro207His) c.683C>A (p.Pro228His) c.629C>A (p.Pro210His) n.819C>A n.806C>A | |
20 | g.46725656C= | CA2366796299 | SLC2A10 | c.620C= (p.Pro207=) c.683C= (p.Pro228=) c.629C= (p.Pro210=) n.819C= n.806C= | |
20 | g.46725656C>G | CA409267466 | SLC2A10 | c.620C>G (p.Pro207Arg) c.683C>G (p.Pro228Arg) c.629C>G (p.Pro210Arg) n.819C>G n.806C>G | |
20 | g.46725656C>T | CA409267468 | SLC2A10 | c.620C>T (p.Pro207Leu) c.683C>T (p.Pro228Leu) c.629C>T (p.Pro210Leu) n.819C>T n.806C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.46725657C>A | CA510847770 | SLC2A10 | c.621C>A (p.Pro207=) c.684C>A (p.Pro228=) c.630C>A (p.Pro210=) n.820C>A n.807C>A | gnomAD v4 |
20 | g.46725657C= | CA2366796300 | SLC2A10 | c.621C= (p.Pro207=) c.684C= (p.Pro228=) c.630C= (p.Pro210=) n.820C= n.807C= | |
20 | g.46725657C>G | CA510847771 | SLC2A10 | c.621C>G (p.Pro207=) c.684C>G (p.Pro228=) c.630C>G (p.Pro210=) n.820C>G n.807C>G | ClinVar dbSNP |
20 | g.46725657C>T | CA510847772 | SLC2A10 | c.621C>T (p.Pro207=) c.684C>T (p.Pro228=) c.630C>T (p.Pro210=) n.820C>T n.807C>T |