UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.765384T>A | CA407963930 | SLC52A3 | c.391A>T (p.Ser131Cys) n.442A>T | |
| 20 | g.765384T>C | CA407963931 | SLC52A3 | c.391A>G (p.Ser131Gly) n.442A>G | |
| 20 | g.765384T>G | CA407963932 | SLC52A3 | c.391A>C (p.Ser131Arg) n.442A>C | |
| 20 | g.765385C>A | CA407963933 | SLC52A3 | c.390G>T (p.Met130Ile) n.441G>T | |
| 20 | g.765385C= | CA2345350124 | SLC52A3 | c.390G= (p.Met130=) n.441G= | |
| 20 | g.765385C>G | CA407963934 | SLC52A3 | c.390G>C (p.Met130Ile) n.441G>C | |
| 20 | g.765385C>T | CA407963935 | SLC52A3 | c.390G>A (p.Met130Ile) n.441G>A | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.765386A>C | CA407963936 | SLC52A3 | c.389T>G (p.Met130Arg) n.440T>G | |
| 20 | g.765386A>G | CA407963938 | SLC52A3 | c.389T>C (p.Met130Thr) n.440T>C | |
| 20 | g.765386A>T | CA407963937 | SLC52A3 | c.389T>A (p.Met130Lys) n.440T>A | |
| 20 | g.765387T>A | CA407963939 | SLC52A3 | c.388A>T (p.Met130Leu) n.439A>T | |
| 20 | g.765387T>C | CA407963940 | SLC52A3 | c.388A>G (p.Met130Val) n.439A>G | |
| 20 | g.765387T>G | CA407963941 | SLC52A3 | c.388A>C (p.Met130Leu) n.439A>C | |
| 20 | g.765388G>A | CA509542813 | SLC52A3 | c.387C>T (p.Phe129=) n.438C>T | COSMIC COSMIC |
| 20 | g.765388G>C | CA407963942 | SLC52A3 | c.387C>G (p.Phe129Leu) n.438C>G | |
| 20 | g.765388G>T | CA407963943 | SLC52A3 | c.387C>A (p.Phe129Leu) n.438C>A | |
| 20 | g.765389A>C | CA407963944 | SLC52A3 | c.386T>G (p.Phe129Cys) n.437T>G | |
| 20 | g.765389A>G | CA407963945 | SLC52A3 | c.386T>C (p.Phe129Ser) n.437T>C | |
| 20 | g.765389A>T | CA407963946 | SLC52A3 | c.386T>A (p.Phe129Tyr) n.437T>A | |
| 20 | g.765390A>C | CA407963947 | SLC52A3 | c.385T>G (p.Phe129Val) n.436T>G | |
| 20 | g.765390A>G | CA407963948 | SLC52A3 | c.385T>C (p.Phe129Leu) n.436T>C | |
| 20 | g.765390A>T | CA407963949 | SLC52A3 | c.385T>A (p.Phe129Ile) n.436T>A | |
| 20 | g.765391C>A | CA509542816 | SLC52A3 | c.384G>T (p.Pro128=) n.435G>T | gnomAD v4 |
| 20 | g.765391C= | CA2345350125 | SLC52A3 | c.384G= (p.Pro128=) n.435G= | |
| 20 | g.765391C>G | CA509542817 | SLC52A3 | c.384G>C (p.Pro128=) n.435G>C | |
| 20 | g.765391C>T | CA9724789 | SLC52A3 | c.384G>A (p.Pro128=) n.435G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.765392G>A | CA310679172 | SLC52A3 | c.383C>T (p.Pro128Leu) n.434C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.765392G>C | CA407963950 | SLC52A3 | c.383C>G (p.Pro128Arg) n.434C>G | |
| 20 | g.765392G= | CA2345350126 | SLC52A3 | c.383C= (p.Pro128=) n.434C= | |
| 20 | g.765392G>T | CA407963951 | SLC52A3 | c.383C>A (p.Pro128Gln) n.434C>A | |
| 20 | g.765393G>A | CA407963952 | SLC52A3 | c.382C>T (p.Pro128Ser) n.433C>T | |
| 20 | g.765393G>C | CA407963953 | SLC52A3 | c.382C>G (p.Pro128Ala) n.433C>G | |
| 20 | g.765393G>T | CA407963954 | SLC52A3 | c.382C>A (p.Pro128Thr) n.433C>A | gnomAD v4 |
| 20 | g.765394C>A | CA509542819 | SLC52A3 | c.381G>T (p.Leu127=) n.432G>T | |
| 20 | g.765394C>G | CA509542820 | SLC52A3 | c.381G>C (p.Leu127=) n.432G>C | |
| 20 | g.765394C>T | CA509542822 | SLC52A3 | c.381G>A (p.Leu127=) n.432G>A | |
| 20 | g.765395A>C | CA407963955 | SLC52A3 | c.380T>G (p.Leu127Arg) n.431T>G | |
| 20 | g.765395A>G | CA407963956 | SLC52A3 | c.380T>C (p.Leu127Pro) n.431T>C | |
| 20 | g.765395A>T | CA407963957 | SLC52A3 | c.380T>A (p.Leu127Gln) n.431T>A | |
| 20 | g.765396G>A | CA509542823 | SLC52A3 | c.379C>T (p.Leu127=) n.430C>T | |
| 20 | g.765396G>C | CA407963958 | SLC52A3 | c.379C>G (p.Leu127Val) n.430C>G | |
| 20 | g.765396G>T | CA407963959 | SLC52A3 | c.379C>A (p.Leu127Met) n.430C>A | |
| 20 | g.765397G>A | CA509542824 | SLC52A3 | c.378C>T (p.Phe126=) n.429C>T | ClinVar dbSNP gnomAD v4 |
| 20 | g.765397G>C | CA407963960 | SLC52A3 | c.378C>G (p.Phe126Leu) n.429C>G | |
| 20 | g.765397G= | CA2345350127 | SLC52A3 | c.378C= (p.Phe126=) n.429C= | |
| 20 | g.765397G>T | CA407963961 | SLC52A3 | c.378C>A (p.Phe126Leu) n.429C>A | |
| 20 | g.765398A>C | CA407963964 | SLC52A3 | c.377T>G (p.Phe126Cys) n.428T>G | |
| 20 | g.765398A>G | CA407963963 | SLC52A3 | c.377T>C (p.Phe126Ser) n.428T>C | |
| 20 | g.765398A>T | CA407963962 | SLC52A3 | c.377T>A (p.Phe126Tyr) n.428T>A | |
| 20 | g.765399A= | CA2345350128 | SLC52A3 | c.376T= (p.Phe126=) n.427T= | |
| 20 | g.765399A>C | CA407963965 | SLC52A3 | c.376T>G (p.Phe126Val) n.427T>G | |
| 20 | g.765399A>G | CA407963966 | SLC52A3 | c.376T>C (p.Phe126Leu) n.427T>C | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.765399A>T | CA407963967 | SLC52A3 | c.376T>A (p.Phe126Ile) n.427T>A | |
| 20 | g.765400G>A | CA509542828 | SLC52A3 | c.375C>T (p.Thr125=) n.426C>T | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.765400G>C | CA509542829 | SLC52A3 | c.375C>G (p.Thr125=) n.426C>G | |
| 20 | g.765400G= | CA2345350129 | SLC52A3 | c.375C= (p.Thr125=) n.426C= | |
| 20 | g.765400G>T | CA9724790 | SLC52A3 | c.375C>A (p.Thr125=) n.426C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.765401G>A | CA407963968 | SLC52A3 | c.374C>T (p.Thr125Ile) n.425C>T | ClinVar |
| 20 | g.765401G>C | CA407963969 | SLC52A3 | c.374C>G (p.Thr125Ser) n.425C>G | gnomAD v4 |
| 20 | g.765401G= | CA2345350130 | SLC52A3 | c.374C= (p.Thr125=) n.425C= | |
| 20 | g.765401G>T | CA346997 | SLC52A3 | c.374C>A (p.Thr125Asn) n.425C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.765402T>A | CA407963970 | SLC52A3 | c.373A>T (p.Thr125Ser) n.424A>T | |
| 20 | g.765402T>C | CA407963971 | SLC52A3 | c.373A>G (p.Thr125Ala) n.424A>G | |
| 20 | g.765402T>G | CA407963972 | SLC52A3 | c.373A>C (p.Thr125Pro) n.424A>C | dbSNP |
| 20 | g.765402T= | CA2345350131 | SLC52A3 | c.373A= (p.Thr125=) n.424A= | |
| 20 | g.765403C>A | CA509542834 | SLC52A3 | c.372G>T (p.Val124=) n.423G>T | |
| 20 | g.765403C>G | CA509542835 | SLC52A3 | c.372G>C (p.Val124=) n.423G>C | |
| 20 | g.765403C>T | CA509542836 | SLC52A3 | c.372G>A (p.Val124=) n.423G>A | gnomAD v4 |
| 20 | g.765404A>C | CA407963973 | SLC52A3 | c.371T>G (p.Val124Gly) n.422T>G | |
| 20 | g.765404A>G | CA407963974 | SLC52A3 | c.371T>C (p.Val124Ala) n.422T>C | |
| 20 | g.765404A>T | CA407963975 | SLC52A3 | c.371T>A (p.Val124Glu) n.422T>A | |
| 20 | g.765405C>A | CA407963978 | SLC52A3 | c.370G>T (p.Val124Leu) n.421G>T | |
| 20 | g.765405C>G | CA407963977 | SLC52A3 | c.370G>C (p.Val124Leu) n.421G>C | |
| 20 | g.765405C>T | CA407963976 | SLC52A3 | c.370G>A (p.Val124Met) n.421G>A | |
| 20 | g.765406T>A | CA509542838 | SLC52A3 | c.369A>T (p.Ser123=) n.420A>T | |
| 20 | g.765406T>C | CA509542839 | SLC52A3 | c.369A>G (p.Ser123=) n.420A>G | dbSNP |
| 20 | g.765406T>G | CA509542840 | SLC52A3 | c.369A>C (p.Ser123=) n.420A>C | |
| 20 | g.765407G>A | CA407963981 | SLC52A3 | c.368C>T (p.Ser123Leu) n.419C>T | |
| 20 | g.765407G>C | CA407963979 | SLC52A3 | c.368C>G (p.Ser123Ter) n.419C>G | |
| 20 | g.765407G>T | CA407963980 | SLC52A3 | c.368C>A (p.Ser123Ter) n.419C>A | |
| 20 | g.765408A>C | CA407963982 | SLC52A3 | c.367T>G (p.Ser123Ala) n.418T>G | |
| 20 | g.765408A>G | CA407963983 | SLC52A3 | c.367T>C (p.Ser123Pro) n.418T>C | |
| 20 | g.765408A>T | CA407963984 | SLC52A3 | c.367T>A (p.Ser123Thr) n.418T>A | |
| 20 | g.765409A>C | CA509542842 | SLC52A3 | c.366T>G (p.Ser122=) n.417T>G | |
| 20 | g.765409A>G | CA509542843 | SLC52A3 | c.366T>C (p.Ser122=) n.417T>C | |
| 20 | g.765409A>T | CA509542845 | SLC52A3 | c.366T>A (p.Ser122=) n.417T>A | |
| 20 | g.765410G>A | CA407963985 | SLC52A3 | c.365C>T (p.Ser122Phe) n.416C>T | |
| 20 | g.765410G>C | CA407963986 | SLC52A3 | c.365C>G (p.Ser122Cys) n.416C>G | |
| 20 | g.765410G>T | CA407963987 | SLC52A3 | c.365C>A (p.Ser122Tyr) n.416C>A | |
| 20 | g.765411A>C | CA407963988 | SLC52A3 | c.364T>G (p.Ser122Ala) n.415T>G | |
| 20 | g.765411A>G | CA407963990 | SLC52A3 | c.364T>C (p.Ser122Pro) n.415T>C | gnomAD v4 |
| 20 | g.765411A>T | CA407963989 | SLC52A3 | c.364T>A (p.Ser122Thr) n.415T>A | |
| 20 | g.765412G>A | CA509542848 | SLC52A3 | c.363C>T (p.Thr121=) n.414C>T | |
| 20 | g.765412G>C | CA9724791 | SLC52A3 | c.363C>G (p.Thr121=) n.414C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.765412G= | CA2345350132 | SLC52A3 | c.363C= (p.Thr121=) n.414C= | |
| 20 | g.765412G>T | CA509542849 | SLC52A3 | c.363C>A (p.Thr121=) n.414C>A | |
| 20 | g.765413G>A | CA407963991 | SLC52A3 | c.362C>T (p.Thr121Ile) n.413C>T | dbSNP gnomAD v4 |
| 20 | g.765413G>C | CA407963992 | SLC52A3 | c.362C>G (p.Thr121Ser) n.413C>G | |
| 20 | g.765413G= | CA2345350133 | SLC52A3 | c.362C= (p.Thr121=) n.413C= | |
| 20 | g.765413G>T | CA407963993 | SLC52A3 | c.362C>A (p.Thr121Asn) n.413C>A | gnomAD v4 |
| 20 | g.765414T>A | CA407963996 | SLC52A3 | c.361A>T (p.Thr121Ser) n.412A>T | |
| 20 | g.765414T>C | CA407963994 | SLC52A3 | c.361A>G (p.Thr121Ala) n.412A>G | |
| 20 | g.765414T>G | CA407963995 | SLC52A3 | c.361A>C (p.Thr121Pro) n.412A>C | dbSNP |
| 20 | g.765414T= | CA2345350134 | SLC52A3 | c.361A= (p.Thr121=) n.412A= | |
| 20 | g.765415G>A | CA509542853 | SLC52A3 | c.360C>T (p.Cys120=) n.411C>T | gnomAD v4 |
| 20 | g.765415G>C | CA407963997 | SLC52A3 | c.360C>G (p.Cys120Trp) n.411C>G | |
| 20 | g.765415G>T | CA407963998 | SLC52A3 | c.360C>A (p.Cys120Ter) n.411C>A | |
| 20 | g.765415dup | CA2651547886 | SLC52A3 | c.360dup (p.Thr121HisfsTer25) n.411dup | gnomAD v4 |
| 20 | g.765416C>A | CA407963999 | SLC52A3 | c.359G>T (p.Cys120Phe) n.410G>T | |
| 20 | g.765416C>G | CA407964000 | SLC52A3 | c.359G>C (p.Cys120Ser) n.410G>C | |
| 20 | g.765416C>T | CA407964001 | SLC52A3 | c.359G>A (p.Cys120Tyr) n.410G>A | |
| 20 | g.765416_765417insCCT | CA2651547887 | SLC52A3 | c.358_359insAGG (p.Cys120Ter) n.409_410insAGG | gnomAD v4 |
| 20 | g.765417A= | CA2345350135 | SLC52A3 | c.358T= (p.Cys120=) n.409T= | |
| 20 | g.765417A>C | CA407964002 | SLC52A3 | c.358T>G (p.Cys120Gly) n.409T>G | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.765417A>G | CA9724792 | SLC52A3 | c.358T>C (p.Cys120Arg) n.409T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.765417A>T | CA407964003 | SLC52A3 | c.358T>A (p.Cys120Ser) n.409T>A | |
| 20 | g.765418G>A | CA509542856 | SLC52A3 | c.357C>T (p.Asp119=) n.408C>T | |
| 20 | g.765418G>C | CA407964004 | SLC52A3 | c.357C>G (p.Asp119Glu) n.408C>G | |
| 20 | g.765418G>T | CA407964005 | SLC52A3 | c.357C>A (p.Asp119Glu) n.408C>A | |
| 20 | g.765419T>A | CA407964006 | SLC52A3 | c.356A>T (p.Asp119Val) n.407A>T | |
| 20 | g.765419T>C | CA407964007 | SLC52A3 | c.356A>G (p.Asp119Gly) n.407A>G | |
| 20 | g.765419T>G | CA407964008 | SLC52A3 | c.356A>C (p.Asp119Ala) n.407A>C | |
| 20 | g.765420C>A | CA407964009 | SLC52A3 | c.355G>T (p.Asp119Tyr) n.406G>T | |
| 20 | g.765420C>G | CA407964011 | SLC52A3 | c.355G>C (p.Asp119His) n.406G>C | |
| 20 | g.765420C>T | CA407964010 | SLC52A3 | c.355G>A (p.Asp119Asn) n.406G>A | |
| 20 | g.765421C>A | CA509542861 | SLC52A3 | c.354G>T (p.Val118=) n.405G>T | |
| 20 | g.765421C>G | CA509542862 | SLC52A3 | c.354G>C (p.Val118=) n.405G>C | |
| 20 | g.765421C>T | CA509542863 | SLC52A3 | c.354G>A (p.Val118=) n.405G>A | |
| 20 | g.765422A>C | CA407964012 | SLC52A3 | c.353T>G (p.Val118Gly) n.404T>G | |
| 20 | g.765422A>G | CA407964013 | SLC52A3 | c.353T>C (p.Val118Ala) n.404T>C | |
| 20 | g.765422A>T | CA407964014 | SLC52A3 | c.353T>A (p.Val118Glu) n.404T>A | ClinVar |
| 20 | g.765423C>A | CA407964015 | SLC52A3 | c.352G>T (p.Val118Leu) n.403G>T | |
| 20 | g.765423C= | CA2345350136 | SLC52A3 | c.352G= (p.Val118=) n.403G= | |
| 20 | g.765423C>G | CA407964016 | SLC52A3 | c.352G>C (p.Val118Leu) n.403G>C | |
| 20 | g.765423C>T | CA407964017 | SLC52A3 | c.352G>A (p.Val118Met) n.403G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.765424C>A | CA509542870 | SLC52A3 | c.351G>T (p.Leu117=) n.402G>T | |
| 20 | g.765424C>G | CA509542873 | SLC52A3 | c.351G>C (p.Leu117=) n.402G>C | |
| 20 | g.765424C>T | CA509542872 | SLC52A3 | c.351G>A (p.Leu117=) n.402G>A | |
| 20 | g.765425A= | CA2345350137 | SLC52A3 | c.350T= (p.Leu117=) n.401T= | |
| 20 | g.765425A>C | CA407964020 | SLC52A3 | c.350T>G (p.Leu117Arg) n.401T>G | |
| 20 | g.765425A>G | CA407964018 | SLC52A3 | c.350T>C (p.Leu117Pro) n.401T>C | dbSNP |
| 20 | g.765425A>T | CA407964019 | SLC52A3 | c.350T>A (p.Leu117Gln) n.401T>A | |
| 20 | g.765426G>A | CA509542876 | SLC52A3 | c.349C>T (p.Leu117=) n.400C>T | gnomAD v4 |
| 20 | g.765426G>C | CA407964021 | SLC52A3 | c.349C>G (p.Leu117Val) n.400C>G | |
| 20 | g.765426G>T | CA407964022 | SLC52A3 | c.349C>A (p.Leu117Met) n.400C>A | |
| 20 | g.765427G>A | CA509542879 | SLC52A3 | c.348C>T (p.Ala116=) n.399C>T | |
| 20 | g.765427G>C | CA509542881 | SLC52A3 | c.348C>G (p.Ala116=) n.399C>G | |
| 20 | g.765427G>T | CA509542885 | SLC52A3 | c.348C>A (p.Ala116=) n.399C>A | |
| 20 | g.765428G>A | CA407964023 | SLC52A3 | c.347C>T (p.Ala116Val) n.398C>T | |
| 20 | g.765428G>C | CA407964024 | SLC52A3 | c.347C>G (p.Ala116Gly) n.398C>G | |
| 20 | g.765428G>T | CA407964025 | SLC52A3 | c.347C>A (p.Ala116Asp) n.398C>A | |
| 20 | g.765429C>A | CA407964026 | SLC52A3 | c.346G>T (p.Ala116Ser) n.397G>T | |
| 20 | g.765429C>G | CA407964028 | SLC52A3 | c.346G>C (p.Ala116Pro) n.397G>C | |
| 20 | g.765429C>T | CA407964027 | SLC52A3 | c.346G>A (p.Ala116Thr) n.397G>A | |
| 20 | g.765430C>A | CA509542891 | SLC52A3 | c.345G>T (p.Leu115=) n.396G>T | |
| 20 | g.765430C>G | CA509542894 | SLC52A3 | c.345G>C (p.Leu115=) n.396G>C | |
| 20 | g.765430C>T | CA509542896 | SLC52A3 | c.345G>A (p.Leu115=) n.396G>A | |
| 20 | g.765431A>C | CA407964029 | SLC52A3 | c.344T>G (p.Leu115Arg) n.395T>G | gnomAD v4 |
| 20 | g.765431A>G | CA407964030 | SLC52A3 | c.344T>C (p.Leu115Pro) n.395T>C | |
| 20 | g.765431A>T | CA407964031 | SLC52A3 | c.344T>A (p.Leu115Gln) n.395T>A | |
| 20 | g.765432G>A | CA9724793 | SLC52A3 | c.343C>T (p.Leu115=) n.394C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.765432G>C | CA407964032 | SLC52A3 | c.343C>G (p.Leu115Val) n.394C>G | |
| 20 | g.765432G= | CA2345350138 | SLC52A3 | c.343C= (p.Leu115=) n.394C= | |
| 20 | g.765432G>T | CA407964033 | SLC52A3 | c.343C>A (p.Leu115Met) n.394C>A | |
| 20 | g.765433G>A | CA509542907 | SLC52A3 | c.342C>T (p.Phe114=) n.393C>T | |
| 20 | g.765433G>C | CA407964034 | SLC52A3 | c.342C>G (p.Phe114Leu) n.393C>G | |
| 20 | g.765433G>T | CA407964035 | SLC52A3 | c.342C>A (p.Phe114Leu) n.393C>A | |
| 20 | g.765437_765439del | CA2651547888 | SLC52A3 | c.340_342del (p.Phe114del) n.391_393del | gnomAD v4 |
| 20 | g.765434A>C | CA407964036 | SLC52A3 | c.341T>G (p.Phe114Cys) n.392T>G | |
| 20 | g.765434A>G | CA407964037 | SLC52A3 | c.341T>C (p.Phe114Ser) n.392T>C | COSMIC COSMIC |
| 20 | g.765434A>T | CA407964038 | SLC52A3 | c.341T>A (p.Phe114Tyr) n.392T>A | gnomAD v4 |
| 20 | g.765435A>C | CA407964039 | SLC52A3 | c.340T>G (p.Phe114Val) n.391T>G | |
| 20 | g.765435A>G | CA407964041 | SLC52A3 | c.340T>C (p.Phe114Leu) n.391T>C | |
| 20 | g.765435A>T | CA407964040 | SLC52A3 | c.340T>A (p.Phe114Ile) n.391T>A | |
| 20 | g.765436G>A | CA9724794 | SLC52A3 | c.339C>T (p.Phe113=) n.390C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.765436G>C | CA407964043 | SLC52A3 | c.339C>G (p.Phe113Leu) n.390C>G | |
| 20 | g.765436G= | CA2345350139 | SLC52A3 | c.339C= (p.Phe113=) n.390C= | |
| 20 | g.765436G>T | CA407964042 | SLC52A3 | c.339C>A (p.Phe113Leu) n.390C>A | ClinVar |
| 20 | g.765437A>C | CA407964044 | SLC52A3 | c.338T>G (p.Phe113Cys) n.389T>G | |
| 20 | g.765437A>G | CA407964045 | SLC52A3 | c.338T>C (p.Phe113Ser) n.389T>C | |
| 20 | g.765437A>T | CA407964046 | SLC52A3 | c.338T>A (p.Phe113Tyr) n.389T>A | |
| 20 | g.765438A>C | CA407964047 | SLC52A3 | c.337T>G (p.Phe113Val) n.388T>G | |
| 20 | g.765438A>G | CA407964048 | SLC52A3 | c.337T>C (p.Phe113Leu) n.388T>C | |
| 20 | g.765438A>T | CA407964049 | SLC52A3 | c.337T>A (p.Phe113Ile) n.388T>A | |
| 20 | g.765439G>A | CA509542915 | SLC52A3 | c.336C>T (p.Thr112=) n.387C>T | gnomAD v4 |
| 20 | g.765439G>C | CA509542918 | SLC52A3 | c.336C>G (p.Thr112=) n.387C>G | |
| 20 | g.765439G= | CA2345350140 | SLC52A3 | c.336C= (p.Thr112=) n.387C= | |
| 20 | g.765439G>T | CA9724795 | SLC52A3 | c.336C>A (p.Thr112=) n.387C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.765440G>A | CA407964050 | SLC52A3 | c.335C>T (p.Thr112Ile) n.386C>T | |
| 20 | g.765440G>C | CA407964051 | SLC52A3 | c.335C>G (p.Thr112Ser) n.386C>G | gnomAD v4 |
| 20 | g.765440G>T | CA407964052 | SLC52A3 | c.335C>A (p.Thr112Asn) n.386C>A | |
| 20 | g.765441T>A | CA407964053 | SLC52A3 | c.334A>T (p.Thr112Ser) n.385A>T | |
| 20 | g.765441T>C | CA407964054 | SLC52A3 | c.334A>G (p.Thr112Ala) n.385A>G | |
| 20 | g.765441T>G | CA407964055 | SLC52A3 | c.334A>C (p.Thr112Pro) n.385A>C | |
| 20 | g.765442G>A | CA310679207 | SLC52A3 | c.333C>T (p.Leu111=) n.384C>T | dbSNP gnomAD v4 |
| 20 | g.765442G>C | CA509542925 | SLC52A3 | c.333C>G (p.Leu111=) n.384C>G | |
| 20 | g.765442G= | CA2345350141 | SLC52A3 | c.333C= (p.Leu111=) n.384C= | |
| 20 | g.765442G>T | CA509542927 | SLC52A3 | c.333C>A (p.Leu111=) n.384C>A | |
| 20 | g.765443A= | CA2345350142 | SLC52A3 | c.332T= (p.Leu111=) n.383T= | |
| 20 | g.765443A>C | CA407964056 | SLC52A3 | c.332T>G (p.Leu111Arg) n.383T>G | |
| 20 | g.765443A>G | CA407964057 | SLC52A3 | c.332T>C (p.Leu111Pro) n.383T>C | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.765443A>T | CA407964058 | SLC52A3 | c.332T>A (p.Leu111His) n.383T>A | |
| 20 | g.765444G>A | CA9724796 | SLC52A3 | c.331C>T (p.Leu111Phe) n.382C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.765444G>C | CA407964059 | SLC52A3 | c.331C>G (p.Leu111Val) n.382C>G | |
| 20 | g.765444G= | CA2345350143 | SLC52A3 | c.331C= (p.Leu111=) n.382C= | |
| 20 | g.765444G>T | CA407964060 | SLC52A3 | c.331C>A (p.Leu111Ile) n.382C>A | |
| 20 | g.765445G>A | CA509542933 | SLC52A3 | c.330C>T (p.Val110=) n.381C>T | |
| 20 | g.765445G>C | CA509542934 | SLC52A3 | c.330C>G (p.Val110=) n.381C>G | |
| 20 | g.765445G>T | CA509542935 | SLC52A3 | c.330C>A (p.Val110=) n.381C>A | |
| 20 | g.765446A>C | CA407964061 | SLC52A3 | c.329T>G (p.Val110Gly) n.380T>G | |
| 20 | g.765446A>G | CA407964062 | SLC52A3 | c.329T>C (p.Val110Ala) n.380T>C | gnomAD v4 |
| 20 | g.765446A>T | CA407964063 | SLC52A3 | c.329T>A (p.Val110Asp) n.380T>A | |
| 20 | g.765447C>A | CA9724797 | SLC52A3 | c.328G>T (p.Val110Phe) n.379G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.765447C= | CA2345350144 | SLC52A3 | c.328G= (p.Val110=) n.379G= | |
| 20 | g.765447C>G | CA407964064 | SLC52A3 | c.328G>C (p.Val110Leu) n.379G>C | |
| 20 | g.765447C>T | CA407964065 | SLC52A3 | c.328G>A (p.Val110Ile) n.379G>A | |
| 20 | g.765448C>A | CA407964067 | SLC52A3 | c.327G>T (p.Leu109Phe) n.378G>T | ClinVar dbSNP gnomAD v4 |
| 20 | g.765448C= | CA2345350145 | SLC52A3 | c.327G= (p.Leu109=) n.378G= | |
| 20 | g.765448C>G | CA407964066 | SLC52A3 | c.327G>C (p.Leu109Phe) n.378G>C | |
| 20 | g.765448C>T | CA509542944 | SLC52A3 | c.327G>A (p.Leu109=) n.378G>A | gnomAD v4 |
| 20 | g.765449A>C | CA407964068 | SLC52A3 | c.326T>G (p.Leu109Trp) n.377T>G | |
| 20 | g.765449A>G | CA407964069 | SLC52A3 | c.326T>C (p.Leu109Ser) n.377T>C | |
| 20 | g.765449A>T | CA407964070 | SLC52A3 | c.326T>A (p.Leu109Ter) n.377T>A | |
| 20 | g.765450A>C | CA407964071 | SLC52A3 | c.325T>G (p.Leu109Val) n.376T>G | |
| 20 | g.765450A>G | CA509542949 | SLC52A3 | c.325T>C (p.Leu109=) n.376T>C | |
| 20 | g.765450A>T | CA407964072 | SLC52A3 | c.325T>A (p.Leu109Met) n.376T>A | |
| 20 | g.765451G>A | CA509542951 | SLC52A3 | c.324C>T (p.Phe108=) n.375C>T | |
| 20 | g.765451G>C | CA407964074 | SLC52A3 | c.324C>G (p.Phe108Leu) n.375C>G | |
| 20 | g.765451G>T | CA407964075 | SLC52A3 | c.324C>A (p.Phe108Leu) n.375C>A | |
| 20 | g.765452A>C | CA407964076 | SLC52A3 | c.323T>G (p.Phe108Cys) n.374T>G | |
| 20 | g.765452A>G | CA407964078 | SLC52A3 | c.323T>C (p.Phe108Ser) n.374T>C | |
| 20 | g.765452A>T | CA407964077 | SLC52A3 | c.323T>A (p.Phe108Tyr) n.374T>A | |
| 20 | g.765453A>C | CA407964079 | SLC52A3 | c.322T>G (p.Phe108Val) n.373T>G | |
| 20 | g.765453A>G | CA407964080 | SLC52A3 | c.322T>C (p.Phe108Leu) n.373T>C | gnomAD v4 |
| 20 | g.765453A>T | CA407964081 | SLC52A3 | c.322T>A (p.Phe108Ile) n.373T>A | |
| 20 | g.765454G>A | CA9724798 | SLC52A3 | c.321C>T (p.Ala107=) n.372C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.765454G>C | CA509542960 | SLC52A3 | c.321C>G (p.Ala107=) n.372C>G | |
| 20 | g.765454G= | CA2345350146 | SLC52A3 | c.321C= (p.Ala107=) n.372C= | |
| 20 | g.765454G>T | CA509542959 | SLC52A3 | c.321C>A (p.Ala107=) n.372C>A | |
| 20 | g.765455G>A | CA407964082 | SLC52A3 | c.320C>T (p.Ala107Val) n.371C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.765455G>C | CA407964084 | SLC52A3 | c.320C>G (p.Ala107Gly) n.371C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.765455G= | CA2345350147 | SLC52A3 | c.320C= (p.Ala107=) n.371C= | |
| 20 | g.765455G>T | CA407964083 | SLC52A3 | c.320C>A (p.Ala107Asp) n.371C>A | |
| 20 | g.765456C>A | CA407964085 | SLC52A3 | c.319G>T (p.Ala107Ser) n.370G>T | gnomAD v4 |
| 20 | g.765456C= | CA2345350148 | SLC52A3 | c.319G= (p.Ala107=) n.370G= | |
| 20 | g.765456C>G | CA407964086 | SLC52A3 | c.319G>C (p.Ala107Pro) n.370G>C | |
| 20 | g.765456C>T | CA9724799 | SLC52A3 | c.319G>A (p.Ala107Thr) n.370G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.765457G>A | CA509542967 | SLC52A3 | c.318C>T (p.Ile106=) n.369C>T | ClinVar dbSNP gnomAD v4 |
| 20 | g.765457G>C | CA407964087 | SLC52A3 | c.318C>G (p.Ile106Met) n.369C>G | |
| 20 | g.765457G= | CA2345350149 | SLC52A3 | c.318C= (p.Ile106=) n.369C= | |
| 20 | g.765457G>T | CA509542969 | SLC52A3 | c.318C>A (p.Ile106=) n.369C>A | |
| 20 | g.765458A>C | CA407964088 | SLC52A3 | c.317T>G (p.Ile106Ser) n.368T>G | |
| 20 | g.765458A>G | CA407964089 | SLC52A3 | c.317T>C (p.Ile106Thr) n.368T>C | |
| 20 | g.765458A>T | CA407964090 | SLC52A3 | c.317T>A (p.Ile106Asn) n.368T>A | |
| 20 | g.765459T>A | CA407964091 | SLC52A3 | c.316A>T (p.Ile106Phe) n.367A>T | |
| 20 | g.765459T>C | CA407964092 | SLC52A3 | c.316A>G (p.Ile106Val) n.367A>G | |
| 20 | g.765459T>G | CA407964093 | SLC52A3 | c.316A>C (p.Ile106Leu) n.367A>C | |
| 20 | g.765460G>A | CA509542976 | SLC52A3 | c.315C>T (p.Ser105=) n.366C>T | dbSNP gnomAD v2 |
| 20 | g.765460G>C | CA407964094 | SLC52A3 | c.315C>G (p.Ser105Arg) n.366C>G | |
| 20 | g.765460G= | CA2345350150 | SLC52A3 | c.315C= (p.Ser105=) n.366C= | |
| 20 | g.765460G>T | CA407964095 | SLC52A3 | c.315C>A (p.Ser105Arg) n.366C>A | |
| 20 | g.765461C>A | CA407964097 | SLC52A3 | c.314G>T (p.Ser105Ile) n.365G>T | dbSNP |
| 20 | g.765461C= | CA2345350151 | SLC52A3 | c.314G= (p.Ser105=) n.365G= | |
| 20 | g.765461C>G | CA407964098 | SLC52A3 | c.314G>C (p.Ser105Thr) n.365G>C | |
| 20 | g.765461C>T | CA407964096 | SLC52A3 | c.314G>A (p.Ser105Asn) n.365G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.765462T>A | CA407964099 | SLC52A3 | c.313A>T (p.Ser105Cys) n.364A>T | |
| 20 | g.765462T>C | CA407964101 | SLC52A3 | c.313A>G (p.Ser105Gly) n.364A>G | gnomAD v4 |
| 20 | g.765462T>G | CA407964100 | SLC52A3 | c.313A>C (p.Ser105Arg) n.364A>C | |
| 20 | g.765463G>A | CA509542987 | SLC52A3 | c.312C>T (p.His104=) n.363C>T | gnomAD v4 |
| 20 | g.765463G>C | CA407964102 | SLC52A3 | c.312C>G (p.His104Gln) n.363C>G | gnomAD v4 |
| 20 | g.765463G>T | CA407964103 | SLC52A3 | c.312C>A (p.His104Gln) n.363C>A | |
| 20 | g.765464T>A | CA407964104 | SLC52A3 | c.311A>T (p.His104Leu) n.362A>T | |
| 20 | g.765464T>C | CA9724800 | SLC52A3 | c.311A>G (p.His104Arg) n.362A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.765464T>G | CA407964105 | SLC52A3 | c.311A>C (p.His104Pro) n.362A>C | |
| 20 | g.765464T= | CA2345350152 | SLC52A3 | c.311A= (p.His104=) n.362A= | |
| 20 | g.765465G>A | CA407964106 | SLC52A3 | c.310C>T (p.His104Tyr) n.361C>T | |
| 20 | g.765465G>C | CA407964107 | SLC52A3 | c.310C>G (p.His104Asp) n.361C>G | |
| 20 | g.765465G>T | CA407964108 | SLC52A3 | c.310C>A (p.His104Asn) n.361C>A | |
| 20 | g.765466G>A | CA509542993 | SLC52A3 | c.309C>T (p.His103=) n.360C>T | dbSNP gnomAD v2 |
| 20 | g.765466G>C | CA407964109 | SLC52A3 | c.309C>G (p.His103Gln) n.360C>G | |
| 20 | g.765466G= | CA2345350153 | SLC52A3 | c.309C= (p.His103=) n.360C= | |
| 20 | g.765466G>T | CA407964110 | SLC52A3 | c.309C>A (p.His103Gln) n.360C>A | |
| 20 | g.765467T>A | CA407964111 | SLC52A3 | c.308A>T (p.His103Leu) n.359A>T | |
| 20 | g.765467T>C | CA407964112 | SLC52A3 | c.308A>G (p.His103Arg) n.359A>G | |
| 20 | g.765467T>G | CA407964113 | SLC52A3 | c.308A>C (p.His103Pro) n.359A>C | |
| 20 | g.765468G>A | CA407964114 | SLC52A3 | c.307C>T (p.His103Tyr) n.358C>T | dbSNP gnomAD v2 |
| 20 | g.765468G>C | CA407964115 | SLC52A3 | c.307C>G (p.His103Asp) n.358C>G | |
| 20 | g.765468G= | CA2345350154 | SLC52A3 | c.307C= (p.His103=) n.358C= | |
| 20 | g.765468G>T | CA407964116 | SLC52A3 | c.307C>A (p.His103Asn) n.358C>A | |
| 20 | g.765469G>A | CA310679218 | SLC52A3 | c.306C>T (p.Gly102=) n.357C>T | dbSNP gnomAD v4 COSMIC COSMIC |
| 20 | g.765469G>C | CA509543004 | SLC52A3 | c.306C>G (p.Gly102=) n.357C>G | |
| 20 | g.765469G= | CA2345350155 | SLC52A3 | c.306C= (p.Gly102=) n.357C= | |
| 20 | g.765469G>T | CA509543006 | SLC52A3 | c.306C>A (p.Gly102=) n.357C>A | |
| 20 | g.765470C>A | CA407964117 | SLC52A3 | c.305G>T (p.Gly102Val) n.356G>T | |
| 20 | g.765470C= | CA2345350156 | SLC52A3 | c.305G= (p.Gly102=) n.356G= | |
| 20 | g.765470C>G | CA407964118 | SLC52A3 | c.305G>C (p.Gly102Ala) n.356G>C | |
| 20 | g.765470C>T | CA310679219 | SLC52A3 | c.305G>A (p.Gly102Asp) n.356G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.765471C>A | CA407964119 | SLC52A3 | c.304G>T (p.Gly102Cys) n.355G>T | |
| 20 | g.765471C= | CA2345350157 | SLC52A3 | c.304G= (p.Gly102=) n.355G= | |
| 20 | g.765471C>G | CA407964120 | SLC52A3 | c.304G>C (p.Gly102Arg) n.355G>C | |
| 20 | g.765471C>T | CA9724801 | SLC52A3 | c.304G>A (p.Gly102Ser) n.355G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.765472G>A | CA9724802 | SLC52A3 | c.303C>T (p.Asp101=) n.354C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.765472G>C | CA407964121 | SLC52A3 | c.303C>G (p.Asp101Glu) n.354C>G | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.765472G= | CA2345350158 | SLC52A3 | c.303C= (p.Asp101=) n.354C= | |
| 20 | g.765472G>T | CA9724803 | SLC52A3 | c.303C>A (p.Asp101Glu) n.354C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.765473T>A | CA407964122 | SLC52A3 | c.302A>T (p.Asp101Val) n.353A>T | COSMIC COSMIC |
| 20 | g.765473T>C | CA407964123 | SLC52A3 | c.302A>G (p.Asp101Gly) n.353A>G | |
| 20 | g.765473T>G | CA407964124 | SLC52A3 | c.302A>C (p.Asp101Ala) n.353A>C | |
| 20 | g.765474C>A | CA407964126 | SLC52A3 | c.301G>T (p.Asp101Tyr) n.352G>T | |
| 20 | g.765474C>G | CA407964127 | SLC52A3 | c.301G>C (p.Asp101His) n.352G>C | |
| 20 | g.765474C>T | CA407964125 | SLC52A3 | c.301G>A (p.Asp101Asn) n.352G>A | |
| 20 | g.765475C>A | CA509542622 | SLC52A3 | c.300G>T (p.Leu100=) n.351G>T | |
| 20 | g.765475C>G | CA509542623 | SLC52A3 | c.300G>C (p.Leu100=) n.351G>C | |
| 20 | g.765475C>T | CA509542624 | SLC52A3 | c.300G>A (p.Leu100=) n.351G>A | gnomAD v4 |
| 20 | g.765476A>C | CA407964128 | SLC52A3 | c.299T>G (p.Leu100Arg) n.350T>G | |
| 20 | g.765476A>G | CA407964129 | SLC52A3 | c.299T>C (p.Leu100Pro) n.350T>C | |
| 20 | g.765476A>T | CA407964130 | SLC52A3 | c.299T>A (p.Leu100Gln) n.350T>A | |
| 20 | g.765477G>A | CA509542626 | SLC52A3 | c.298C>T (p.Leu100=) n.349C>T | |
| 20 | g.765477G>C | CA407964131 | SLC52A3 | c.298C>G (p.Leu100Val) n.349C>G | gnomAD v4 |
| 20 | g.765477G= | CA2345350159 | SLC52A3 | c.298C= (p.Leu100=) n.349C= | |
| 20 | g.765477G>T | CA407964132 | SLC52A3 | c.298C>A (p.Leu100Met) n.349C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.765478C>A | CA509542629 | SLC52A3 | c.297G>T (p.Val99=) n.348G>T | |
| 20 | g.765478C= | CA2345350160 | SLC52A3 | c.297G= (p.Val99=) n.348G= | |
| 20 | g.765478C>G | CA509542627 | SLC52A3 | c.297G>C (p.Val99=) n.348G>C | |
| 20 | g.765478C>T | CA509542628 | SLC52A3 | c.297G>A (p.Val99=) n.348G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.765479A>C | CA407964133 | SLC52A3 | c.296T>G (p.Val99Gly) n.347T>G | |
| 20 | g.765479A>G | CA407964134 | SLC52A3 | c.296T>C (p.Val99Ala) n.347T>C | |
| 20 | g.765479A>T | CA407964135 | SLC52A3 | c.296T>A (p.Val99Glu) n.347T>A | |
| 20 | g.765480C>A | CA407964136 | SLC52A3 | c.295G>T (p.Val99Leu) n.346G>T | |
| 20 | g.765480C>G | CA407964137 | SLC52A3 | c.295G>C (p.Val99Leu) n.346G>C | |
| 20 | g.765480C>T | CA407964138 | SLC52A3 | c.295G>A (p.Val99Met) n.346G>A | gnomAD v4 |
| 20 | g.765481C>A | CA407964139 | SLC52A3 | c.294G>T (p.Trp98Cys) n.345G>T | gnomAD v4 |
| 20 | g.765481C= | CA2345350161 | SLC52A3 | c.294G= (p.Trp98=) n.345G= | |
| 20 | g.765481C>G | CA9724804 | SLC52A3 | c.294G>C (p.Trp98Cys) n.345G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.765481C>T | CA9724805 | SLC52A3 | c.294G>A (p.Trp98Ter) n.345G>A | dbSNP ExAC |
| 20 | g.765482C>A | CA407964140 | SLC52A3 | c.293G>T (p.Trp98Leu) n.344G>T | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.765482C= | CA2345350162 | SLC52A3 | c.293G= (p.Trp98=) n.344G= | |
| 20 | g.765482C>G | CA407964141 | SLC52A3 | c.293G>C (p.Trp98Ser) n.344G>C | |
| 20 | g.765482C>T | CA407964142 | SLC52A3 | c.293G>A (p.Trp98Ter) n.344G>A | ClinVar gnomAD v4 |
| 20 | g.765483A>C | CA407964143 | SLC52A3 | c.292T>G (p.Trp98Gly) n.343T>G | |
| 20 | g.765483A>G | CA407964144 | SLC52A3 | c.292T>C (p.Trp98Arg) n.343T>C | |
| 20 | g.765483A>T | CA407964145 | SLC52A3 | c.292T>A (p.Trp98Arg) n.343T>A | |
| 20 | g.765484G>A | CA509542635 | SLC52A3 | c.291C>T (p.Ser97=) n.342C>T | |
| 20 | g.765484G>C | CA9724806 | SLC52A3 | c.291C>G (p.Ser97=) n.342C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.765484G= | CA2345350163 | SLC52A3 | c.291C= (p.Ser97=) n.342C= | |
| 20 | g.765484G>T | CA509542636 | SLC52A3 | c.291C>A (p.Ser97=) n.342C>A | gnomAD v4 |