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.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 |