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 |
|---|---|---|---|---|---|
| 10 | g.95844582G>A | CA5621417 | ENTPD1,ENTPD1-AS1 | c.520G>A (p.Glu174Lys) c.369G>A (p.Arg123=) n.505G>A c.556G>A (p.Glu186Lys) n.8G>A c.541G>A (p.Glu181Lys) c.117G>A (p.Arg39=) n.503G>A c.106G>A (p.Glu36Lys) c.196G>A (p.Glu66Lys) c.*95G>A (n.*95G>A) n.373G>A n.533+2810C>T c.577G>A (p.Glu193Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.95844582G>C | CA377822800 | ENTPD1,ENTPD1-AS1 | c.520G>C (p.Glu174Gln) c.369G>C (p.Arg123Ser) n.505G>C c.556G>C (p.Glu186Gln) n.8G>C c.541G>C (p.Glu181Gln) c.117G>C (p.Arg39Ser) n.503G>C c.106G>C (p.Glu36Gln) c.196G>C (p.Glu66Gln) c.*95G>C (n.*95G>C) n.373G>C n.533+2810C>G c.577G>C (p.Glu193Gln) | |
| 10 | g.95844582G= | CA1929710335 | ENTPD1,ENTPD1-AS1 | c.520G= (p.Glu174=) c.369G= (p.Arg123=) n.505G= c.556G= (p.Glu186=) n.8G= c.541G= (p.Glu181=) c.117G= (p.Arg39=) n.503G= c.106G= (p.Glu36=) c.196G= (p.Glu66=) c.*95G= (n.*95G=) n.373G= n.533+2810C= c.577G= (p.Glu193=) | |
| 10 | g.95844582G>T | CA214471 | ENTPD1,ENTPD1-AS1 | c.520G>T (p.Glu174Ter) c.369G>T (p.Arg123Ser) n.505G>T c.556G>T (p.Glu186Ter) n.8G>T c.541G>T (p.Glu181Ter) c.117G>T (p.Arg39Ser) n.503G>T c.106G>T (p.Glu36Ter) c.196G>T (p.Glu66Ter) c.*95G>T (n.*95G>T) n.373G>T n.533+2810C>A c.577G>T (p.Glu193Ter) | ClinVar dbSNP |
| 10 | g.95844583A>C | CA377822801 | ENTPD1,ENTPD1-AS1 | c.521A>C (p.Glu174Ala) c.370A>C (p.Lys124Gln) n.506A>C c.557A>C (p.Glu186Ala) n.9A>C c.542A>C (p.Glu181Ala) c.118A>C (p.Lys40Gln) n.504A>C c.107A>C (p.Glu36Ala) c.197A>C (p.Glu66Ala) c.*96A>C (n.*96A>C) n.374A>C n.533+2809T>G c.578A>C (p.Glu193Ala) | |
| 10 | g.95844583A>G | CA377822802 | ENTPD1,ENTPD1-AS1 | c.521A>G (p.Glu174Gly) c.370A>G (p.Lys124Glu) n.506A>G c.557A>G (p.Glu186Gly) n.9A>G c.542A>G (p.Glu181Gly) c.118A>G (p.Lys40Glu) n.504A>G c.107A>G (p.Glu36Gly) c.197A>G (p.Glu66Gly) c.*96A>G (n.*96A>G) n.374A>G n.533+2809T>C c.578A>G (p.Glu193Gly) | |
| 10 | g.95844583A>T | CA377822803 | ENTPD1,ENTPD1-AS1 | c.521A>T (p.Glu174Val) c.370A>T (p.Lys124Ter) n.506A>T c.557A>T (p.Glu186Val) n.9A>T c.542A>T (p.Glu181Val) c.118A>T (p.Lys40Ter) n.504A>T c.107A>T (p.Glu36Val) c.197A>T (p.Glu66Val) c.*96A>T (n.*96A>T) n.374A>T n.533+2809T>A c.578A>T (p.Glu193Val) | |
| 10 | g.95844584A>C | CA377822804 | ENTPD1,ENTPD1-AS1 | c.522A>C (p.Glu174Asp) c.371A>C (p.Lys124Thr) n.507A>C c.558A>C (p.Glu186Asp) n.10A>C c.543A>C (p.Glu181Asp) c.119A>C (p.Lys40Thr) n.505A>C c.108A>C (p.Glu36Asp) c.198A>C (p.Glu66Asp) c.*97A>C (n.*97A>C) n.375A>C n.533+2808T>G c.579A>C (p.Glu193Asp) | |
| 10 | g.95844584A>G | CA471197772 | ENTPD1,ENTPD1-AS1 | c.522A>G (p.Glu174=) c.371A>G (p.Lys124Arg) n.507A>G c.558A>G (p.Glu186=) n.10A>G c.543A>G (p.Glu181=) c.119A>G (p.Lys40Arg) n.505A>G c.108A>G (p.Glu36=) c.198A>G (p.Glu66=) c.*97A>G (n.*97A>G) n.375A>G n.533+2808T>C c.579A>G (p.Glu193=) | gnomAD v4 |
| 10 | g.95844584A>T | CA377822805 | ENTPD1,ENTPD1-AS1 | c.522A>T (p.Glu174Asp) c.371A>T (p.Lys124Met) n.507A>T c.558A>T (p.Glu186Asp) n.10A>T c.543A>T (p.Glu181Asp) c.119A>T (p.Lys40Met) n.505A>T c.108A>T (p.Glu36Asp) c.198A>T (p.Glu66Asp) c.*97A>T (n.*97A>T) n.375A>T n.533+2808T>A c.579A>T (p.Glu193Asp) | |
| 10 | g.95844585G>A | CA377822806 | ENTPD1,ENTPD1-AS1 | c.523G>A (p.Gly175Ser) c.372G>A (p.Lys124=) n.508G>A c.559G>A (p.Gly187Ser) n.11G>A c.544G>A (p.Gly182Ser) c.120G>A (p.Lys40=) n.506G>A c.109G>A (p.Gly37Ser) c.199G>A (p.Gly67Ser) c.*98G>A (n.*98G>A) n.376G>A n.533+2807C>T c.580G>A (p.Gly194Ser) | |
| 10 | g.95844585G>C | CA377822807 | ENTPD1,ENTPD1-AS1 | c.523G>C (p.Gly175Arg) c.372G>C (p.Lys124Asn) n.508G>C c.559G>C (p.Gly187Arg) n.11G>C c.544G>C (p.Gly182Arg) c.120G>C (p.Lys40Asn) n.506G>C c.109G>C (p.Gly37Arg) c.199G>C (p.Gly67Arg) c.*98G>C (n.*98G>C) n.376G>C n.533+2807C>G c.580G>C (p.Gly194Arg) | |
| 10 | g.95844585G>T | CA377822808 | ENTPD1,ENTPD1-AS1 | c.523G>T (p.Gly175Cys) c.372G>T (p.Lys124Asn) n.508G>T c.559G>T (p.Gly187Cys) n.11G>T c.544G>T (p.Gly182Cys) c.120G>T (p.Lys40Asn) n.506G>T c.109G>T (p.Gly37Cys) c.199G>T (p.Gly67Cys) c.*98G>T (n.*98G>T) n.376G>T n.533+2807C>A c.580G>T (p.Gly194Cys) | |
| 10 | g.95844586G>A | CA377822809 | ENTPD1,ENTPD1-AS1 | c.524G>A (p.Gly175Asp) c.373G>A (p.Val125Met) n.509G>A c.560G>A (p.Gly187Asp) n.12G>A c.545G>A (p.Gly182Asp) c.121G>A (p.Val41Met) n.507G>A c.110G>A (p.Gly37Asp) c.200G>A (p.Gly67Asp) c.*99G>A (n.*99G>A) n.377G>A n.533+2806C>T c.581G>A (p.Gly194Asp) | dbSNP |
| 10 | g.95844586G>C | CA377822811 | ENTPD1,ENTPD1-AS1 | c.524G>C (p.Gly175Ala) c.373G>C (p.Val125Leu) n.509G>C c.560G>C (p.Gly187Ala) n.12G>C c.545G>C (p.Gly182Ala) c.121G>C (p.Val41Leu) n.507G>C c.110G>C (p.Gly37Ala) c.200G>C (p.Gly67Ala) c.*99G>C (n.*99G>C) n.377G>C n.533+2806C>G c.581G>C (p.Gly194Ala) | dbSNP |
| 10 | g.95844586G= | CA1929710336 | ENTPD1,ENTPD1-AS1 | c.524G= (p.Gly175=) c.373G= (p.Val125=) n.509G= c.560G= (p.Gly187=) n.12G= c.545G= (p.Gly182=) c.121G= (p.Val41=) n.507G= c.110G= (p.Gly37=) c.200G= (p.Gly67=) c.*99G= (n.*99G=) n.377G= n.533+2806C= c.581G= (p.Gly194=) | |
| 10 | g.95844586G>T | CA377822810 | ENTPD1,ENTPD1-AS1 | c.524G>T (p.Gly175Val) c.373G>T (p.Val125Leu) n.509G>T c.560G>T (p.Gly187Val) n.12G>T c.545G>T (p.Gly182Val) c.121G>T (p.Val41Leu) n.507G>T c.110G>T (p.Gly37Val) c.200G>T (p.Gly67Val) c.*99G>T (n.*99G>T) n.377G>T n.533+2806C>A c.581G>T (p.Gly194Val) | |
| 10 | g.95844587T>A | CA471197774 | ENTPD1,ENTPD1-AS1 | c.525T>A (p.Gly175=) c.374T>A (p.Val125Glu) n.510T>A c.561T>A (p.Gly187=) n.13T>A c.546T>A (p.Gly182=) c.122T>A (p.Val41Glu) n.508T>A c.111T>A (p.Gly37=) c.201T>A (p.Gly67=) c.*100T>A (n.*100T>A) n.378T>A n.533+2805A>T c.582T>A (p.Gly194=) | |
| 10 | g.95844587T>C | CA471197775 | ENTPD1,ENTPD1-AS1 | c.525T>C (p.Gly175=) c.374T>C (p.Val125Ala) n.510T>C c.561T>C (p.Gly187=) n.13T>C c.546T>C (p.Gly182=) c.122T>C (p.Val41Ala) n.508T>C c.111T>C (p.Gly37=) c.201T>C (p.Gly67=) c.*100T>C (n.*100T>C) n.378T>C n.533+2805A>G c.582T>C (p.Gly194=) | |
| 10 | g.95844587T>G | CA471197776 | ENTPD1,ENTPD1-AS1 | c.525T>G (p.Gly175=) c.374T>G (p.Val125Gly) n.510T>G c.561T>G (p.Gly187=) n.13T>G c.546T>G (p.Gly182=) c.122T>G (p.Val41Gly) n.508T>G c.111T>G (p.Gly37=) c.201T>G (p.Gly67=) c.*100T>G (n.*100T>G) n.378T>G n.533+2805A>C c.582T>G (p.Gly194=) | |
| 10 | g.95844588G>A | CA377822812 | ENTPD1,ENTPD1-AS1 | c.526G>A (p.Ala176Thr) c.375G>A (p.Val125=) n.511G>A c.562G>A (p.Ala188Thr) n.14G>A c.547G>A (p.Ala183Thr) c.123G>A (p.Val41=) n.509G>A c.112G>A (p.Ala38Thr) c.202G>A (p.Ala68Thr) c.*101G>A (n.*101G>A) n.379G>A n.533+2804C>T c.583G>A (p.Ala195Thr) | |
| 10 | g.95844588G>C | CA377822813 | ENTPD1,ENTPD1-AS1 | c.526G>C (p.Ala176Pro) c.375G>C (p.Val125=) n.511G>C c.562G>C (p.Ala188Pro) n.14G>C c.547G>C (p.Ala183Pro) c.123G>C (p.Val41=) n.509G>C c.112G>C (p.Ala38Pro) c.202G>C (p.Ala68Pro) c.*101G>C (n.*101G>C) n.379G>C n.533+2804C>G c.583G>C (p.Ala195Pro) | |
| 10 | g.95844588G>T | CA377822814 | ENTPD1,ENTPD1-AS1 | c.526G>T (p.Ala176Ser) c.375G>T (p.Val125=) n.511G>T c.562G>T (p.Ala188Ser) n.14G>T c.547G>T (p.Ala183Ser) c.123G>T (p.Val41=) n.509G>T c.112G>T (p.Ala38Ser) c.202G>T (p.Ala68Ser) c.*101G>T (n.*101G>T) n.379G>T n.533+2804C>A c.583G>T (p.Ala195Ser) | |
| 10 | g.95844589C>A | CA377822815 | ENTPD1,ENTPD1-AS1 | c.527C>A (p.Ala176Asp) c.376C>A (p.Pro126Thr) n.512C>A c.563C>A (p.Ala188Asp) n.15C>A c.548C>A (p.Ala183Asp) c.124C>A (p.Pro42Thr) n.510C>A c.113C>A (p.Ala38Asp) c.203C>A (p.Ala68Asp) c.*102C>A (n.*102C>A) n.380C>A n.533+2803G>T c.584C>A (p.Ala195Asp) | |
| 10 | g.95844589C>G | CA377822816 | ENTPD1,ENTPD1-AS1 | c.527C>G (p.Ala176Gly) c.376C>G (p.Pro126Ala) n.512C>G c.563C>G (p.Ala188Gly) n.15C>G c.548C>G (p.Ala183Gly) c.124C>G (p.Pro42Ala) n.510C>G c.113C>G (p.Ala38Gly) c.203C>G (p.Ala68Gly) c.*102C>G (n.*102C>G) n.380C>G n.533+2803G>C c.584C>G (p.Ala195Gly) | |
| 10 | g.95844589C>T | CA377822817 | ENTPD1,ENTPD1-AS1 | c.527C>T (p.Ala176Val) c.376C>T (p.Pro126Ser) n.512C>T c.563C>T (p.Ala188Val) n.15C>T c.548C>T (p.Ala183Val) c.124C>T (p.Pro42Ser) n.510C>T c.113C>T (p.Ala38Val) c.203C>T (p.Ala68Val) c.*102C>T (n.*102C>T) n.380C>T n.533+2803G>A c.584C>T (p.Ala195Val) | |
| 10 | g.95844590C>A | CA471197778 | ENTPD1,ENTPD1-AS1 | c.528C>A (p.Ala176=) c.377C>A (p.Pro126His) n.513C>A c.564C>A (p.Ala188=) n.16C>A c.549C>A (p.Ala183=) c.125C>A (p.Pro42His) n.511C>A c.114C>A (p.Ala38=) c.204C>A (p.Ala68=) c.*103C>A (n.*103C>A) n.381C>A n.533+2802G>T c.585C>A (p.Ala195=) | |
| 10 | g.95844590C>G | CA471197779 | ENTPD1,ENTPD1-AS1 | c.528C>G (p.Ala176=) c.377C>G (p.Pro126Arg) n.513C>G c.564C>G (p.Ala188=) n.16C>G c.549C>G (p.Ala183=) c.125C>G (p.Pro42Arg) n.511C>G c.114C>G (p.Ala38=) c.204C>G (p.Ala68=) c.*103C>G (n.*103C>G) n.381C>G n.533+2802G>C c.585C>G (p.Ala195=) | |
| 10 | g.95844590C>T | CA471197780 | ENTPD1,ENTPD1-AS1 | c.528C>T (p.Ala176=) c.377C>T (p.Pro126Leu) n.513C>T c.564C>T (p.Ala188=) n.16C>T c.549C>T (p.Ala183=) c.125C>T (p.Pro42Leu) n.511C>T c.114C>T (p.Ala38=) c.204C>T (p.Ala68=) c.*103C>T (n.*103C>T) n.381C>T n.533+2802G>A c.585C>T (p.Ala195=) | |
| 10 | g.95844591T>A | CA377822818 | ENTPD1,ENTPD1-AS1 | c.529T>A (p.Tyr177Asn) c.378T>A (p.Pro126=) n.514T>A c.565T>A (p.Tyr189Asn) n.17T>A c.550T>A (p.Tyr184Asn) c.126T>A (p.Pro42=) n.512T>A c.115T>A (p.Tyr39Asn) c.205T>A (p.Tyr69Asn) c.*104T>A (n.*104T>A) n.382T>A n.533+2801A>T c.586T>A (p.Tyr196Asn) | |
| 10 | g.95844591T>C | CA377822819 | ENTPD1,ENTPD1-AS1 | c.529T>C (p.Tyr177His) c.378T>C (p.Pro126=) n.514T>C c.565T>C (p.Tyr189His) n.17T>C c.550T>C (p.Tyr184His) c.126T>C (p.Pro42=) n.512T>C c.115T>C (p.Tyr39His) c.205T>C (p.Tyr69His) c.*104T>C (n.*104T>C) n.382T>C n.533+2801A>G c.586T>C (p.Tyr196His) | |
| 10 | g.95844591T>G | CA377822820 | ENTPD1,ENTPD1-AS1 | c.529T>G (p.Tyr177Asp) c.378T>G (p.Pro126=) n.514T>G c.565T>G (p.Tyr189Asp) n.17T>G c.550T>G (p.Tyr184Asp) c.126T>G (p.Pro42=) n.512T>G c.115T>G (p.Tyr39Asp) c.205T>G (p.Tyr69Asp) c.*104T>G (n.*104T>G) n.382T>G n.533+2801A>C c.586T>G (p.Tyr196Asp) | |
| 10 | g.95844592A= | CA1929710339 | ENTPD1,ENTPD1-AS1 | c.530A= (p.Tyr177=) c.379A= (p.Met127=) n.515A= c.566A= (p.Tyr189=) n.18A= c.551A= (p.Tyr184=) c.127A= (p.Met43=) n.513A= c.116A= (p.Tyr39=) c.206A= (p.Tyr69=) c.*105A= (n.*105A=) n.383A= n.533+2800T= c.587A= (p.Tyr196=) | |
| 10 | g.95844592A>C | CA377822822 | ENTPD1,ENTPD1-AS1 | c.530A>C (p.Tyr177Ser) c.379A>C (p.Met127Leu) n.515A>C c.566A>C (p.Tyr189Ser) n.18A>C c.551A>C (p.Tyr184Ser) c.127A>C (p.Met43Leu) n.513A>C c.116A>C (p.Tyr39Ser) c.206A>C (p.Tyr69Ser) c.*105A>C (n.*105A>C) n.383A>C n.533+2800T>G c.587A>C (p.Tyr196Ser) | |
| 10 | g.95844592A>G | CA212154644 | ENTPD1,ENTPD1-AS1 | c.530A>G (p.Tyr177Cys) c.379A>G (p.Met127Val) n.515A>G c.566A>G (p.Tyr189Cys) n.18A>G c.551A>G (p.Tyr184Cys) c.127A>G (p.Met43Val) n.513A>G c.116A>G (p.Tyr39Cys) c.206A>G (p.Tyr69Cys) c.*105A>G (n.*105A>G) n.383A>G n.533+2800T>C c.587A>G (p.Tyr196Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.95844592A>T | CA377822821 | ENTPD1,ENTPD1-AS1 | c.530A>T (p.Tyr177Phe) c.379A>T (p.Met127Leu) n.515A>T c.566A>T (p.Tyr189Phe) n.18A>T c.551A>T (p.Tyr184Phe) c.127A>T (p.Met43Leu) n.513A>T c.116A>T (p.Tyr39Phe) c.206A>T (p.Tyr69Phe) c.*105A>T (n.*105A>T) n.383A>T n.533+2800T>A c.587A>T (p.Tyr196Phe) | |
| 10 | g.95844593T>A | CA377822823 | ENTPD1,ENTPD1-AS1 | c.531T>A (p.Tyr177Ter) c.380T>A (p.Met127Lys) n.516T>A c.567T>A (p.Tyr189Ter) n.19T>A c.552T>A (p.Tyr184Ter) c.128T>A (p.Met43Lys) n.514T>A c.117T>A (p.Tyr39Ter) c.207T>A (p.Tyr69Ter) c.*106T>A (n.*106T>A) n.384T>A n.533+2799A>T c.588T>A (p.Tyr196Ter) | COSMIC COSMIC COSMIC |
| 10 | g.95844593T>C | CA471197782 | ENTPD1,ENTPD1-AS1 | c.531T>C (p.Tyr177=) c.380T>C (p.Met127Thr) n.516T>C c.567T>C (p.Tyr189=) n.19T>C c.552T>C (p.Tyr184=) c.128T>C (p.Met43Thr) n.514T>C c.117T>C (p.Tyr39=) c.207T>C (p.Tyr69=) c.*106T>C (n.*106T>C) n.384T>C n.533+2799A>G c.588T>C (p.Tyr196=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.95844593T>G | CA377822824 | ENTPD1,ENTPD1-AS1 | c.531T>G (p.Tyr177Ter) c.380T>G (p.Met127Arg) n.516T>G c.567T>G (p.Tyr189Ter) n.19T>G c.552T>G (p.Tyr184Ter) c.128T>G (p.Met43Arg) n.514T>G c.117T>G (p.Tyr39Ter) c.207T>G (p.Tyr69Ter) c.*106T>G (n.*106T>G) n.384T>G n.533+2799A>C c.588T>G (p.Tyr196Ter) | |
| 10 | g.95844593T= | CA1929710342 | ENTPD1,ENTPD1-AS1 | c.531T= (p.Tyr177=) c.380T= (p.Met127=) n.516T= c.567T= (p.Tyr189=) n.19T= c.552T= (p.Tyr184=) c.128T= (p.Met43=) n.514T= c.117T= (p.Tyr39=) c.207T= (p.Tyr69=) c.*106T= (n.*106T=) n.384T= n.533+2799A= c.588T= (p.Tyr196=) | |
| 10 | g.95844594G>A | CA377822825 | ENTPD1,ENTPD1-AS1 | c.532G>A (p.Gly178Ser) c.381G>A (p.Met127Ile) n.517G>A c.568G>A (p.Gly190Ser) n.20G>A c.553G>A (p.Gly185Ser) c.129G>A (p.Met43Ile) n.515G>A c.118G>A (p.Gly40Ser) c.208G>A (p.Gly70Ser) c.*107G>A (n.*107G>A) n.385G>A n.533+2798C>T c.589G>A (p.Gly197Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.95844594G>C | CA377822826 | ENTPD1,ENTPD1-AS1 | c.532G>C (p.Gly178Arg) c.381G>C (p.Met127Ile) n.517G>C c.568G>C (p.Gly190Arg) n.20G>C c.553G>C (p.Gly185Arg) c.129G>C (p.Met43Ile) n.515G>C c.118G>C (p.Gly40Arg) c.208G>C (p.Gly70Arg) c.*107G>C (n.*107G>C) n.385G>C n.533+2798C>G c.589G>C (p.Gly197Arg) | |
| 10 | g.95844594G= | CA1929710344 | ENTPD1,ENTPD1-AS1 | c.532G= (p.Gly178=) c.381G= (p.Met127=) n.517G= c.568G= (p.Gly190=) n.20G= c.553G= (p.Gly185=) c.129G= (p.Met43=) n.515G= c.118G= (p.Gly40=) c.208G= (p.Gly70=) c.*107G= (n.*107G=) n.385G= n.533+2798C= c.589G= (p.Gly197=) | |
| 10 | g.95844594G>T | CA377822827 | ENTPD1,ENTPD1-AS1 | c.532G>T (p.Gly178Cys) c.381G>T (p.Met127Ile) n.517G>T c.568G>T (p.Gly190Cys) n.20G>T c.553G>T (p.Gly185Cys) c.129G>T (p.Met43Ile) n.515G>T c.118G>T (p.Gly40Cys) c.208G>T (p.Gly70Cys) c.*107G>T (n.*107G>T) n.385G>T n.533+2798C>A c.589G>T (p.Gly197Cys) | |
| 10 | g.95844595G>A | CA5621418 | ENTPD1,ENTPD1-AS1 | c.533G>A (p.Gly178Asp) c.382G>A (p.Ala128Thr) n.518G>A c.569G>A (p.Gly190Asp) n.21G>A c.554G>A (p.Gly185Asp) c.130G>A (p.Ala44Thr) n.516G>A c.119G>A (p.Gly40Asp) c.209G>A (p.Gly70Asp) c.*108G>A (n.*108G>A) n.386G>A n.533+2797C>T c.590G>A (p.Gly197Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.95844595G>C | CA377822828 | ENTPD1,ENTPD1-AS1 | c.533G>C (p.Gly178Ala) c.382G>C (p.Ala128Pro) n.518G>C c.569G>C (p.Gly190Ala) n.21G>C c.554G>C (p.Gly185Ala) c.130G>C (p.Ala44Pro) n.516G>C c.119G>C (p.Gly40Ala) c.209G>C (p.Gly70Ala) c.*108G>C (n.*108G>C) n.386G>C n.533+2797C>G c.590G>C (p.Gly197Ala) | |
| 10 | g.95844595G= | CA1929710348 | ENTPD1,ENTPD1-AS1 | c.533G= (p.Gly178=) c.382G= (p.Ala128=) n.518G= c.569G= (p.Gly190=) n.21G= c.554G= (p.Gly185=) c.130G= (p.Ala44=) n.516G= c.119G= (p.Gly40=) c.209G= (p.Gly70=) c.*108G= (n.*108G=) n.386G= n.533+2797C= c.590G= (p.Gly197=) | |
| 10 | g.95844595G>T | CA377822829 | ENTPD1,ENTPD1-AS1 | c.533G>T (p.Gly178Val) c.382G>T (p.Ala128Ser) n.518G>T c.569G>T (p.Gly190Val) n.21G>T c.554G>T (p.Gly185Val) c.130G>T (p.Ala44Ser) n.516G>T c.119G>T (p.Gly40Val) c.209G>T (p.Gly70Val) c.*108G>T (n.*108G>T) n.386G>T n.533+2797C>A c.590G>T (p.Gly197Val) | gnomAD v4 |
| 10 | g.95844596C>A | CA471197783 | ENTPD1,ENTPD1-AS1 | c.534C>A (p.Gly178=) c.383C>A (p.Ala128Asp) n.519C>A c.570C>A (p.Gly190=) n.22C>A c.555C>A (p.Gly185=) c.131C>A (p.Ala44Asp) n.517C>A c.120C>A (p.Gly40=) c.210C>A (p.Gly70=) c.*109C>A (n.*109C>A) n.387C>A n.533+2796G>T c.591C>A (p.Gly197=) | dbSNP |
| 10 | g.95844596C= | CA1929710350 | ENTPD1,ENTPD1-AS1 | c.534C= (p.Gly178=) c.383C= (p.Ala128=) n.519C= c.570C= (p.Gly190=) n.22C= c.555C= (p.Gly185=) c.131C= (p.Ala44=) n.517C= c.120C= (p.Gly40=) c.210C= (p.Gly70=) c.*109C= (n.*109C=) n.387C= n.533+2796G= c.591C= (p.Gly197=) |