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 |
|---|---|---|---|---|---|
| X | g.77684427C>A | CA413720553 | ATRX | c.829G>T (p.Val277Phe) c.715G>T (p.Val239Phe) c.*457G>T (n.*457G>T) c.664G>T (p.Val222Phe) c.712G>T (p.Val238Phe) c.826G>T (p.Val276Phe) c.550G>T (p.Val184Phe) n.1097G>T c.709G>T (p.Val237Phe) c.661G>T (p.Val221Phe) c.598G>T (p.Val200Phe) c.595G>T (p.Val199Phe) c.547G>T (p.Val183Phe) n.1054G>T | dbSNP |
| X | g.77684427C= | CA2438987780 | ATRX | c.829G= (p.Val277=) c.715G= (p.Val239=) c.*457G= (n.*457G=) c.664G= (p.Val222=) c.712G= (p.Val238=) c.826G= (p.Val276=) c.550G= (p.Val184=) n.1097G= c.709G= (p.Val237=) c.661G= (p.Val221=) c.598G= (p.Val200=) c.595G= (p.Val199=) c.547G= (p.Val183=) n.1054G= | |
| X | g.77684427C>G | CA413720554 | ATRX | c.829G>C (p.Val277Leu) c.715G>C (p.Val239Leu) c.*457G>C (n.*457G>C) c.664G>C (p.Val222Leu) c.712G>C (p.Val238Leu) c.826G>C (p.Val276Leu) c.550G>C (p.Val184Leu) n.1097G>C c.709G>C (p.Val237Leu) c.661G>C (p.Val221Leu) c.598G>C (p.Val200Leu) c.595G>C (p.Val199Leu) c.547G>C (p.Val183Leu) n.1054G>C | ClinVar dbSNP |
| X | g.77684427C>T | CA413720555 | ATRX | c.829G>A (p.Val277Ile) c.715G>A (p.Val239Ile) c.*457G>A (n.*457G>A) c.664G>A (p.Val222Ile) c.712G>A (p.Val238Ile) c.826G>A (p.Val276Ile) c.550G>A (p.Val184Ile) n.1097G>A c.709G>A (p.Val237Ile) c.661G>A (p.Val221Ile) c.598G>A (p.Val200Ile) c.595G>A (p.Val199Ile) c.547G>A (p.Val183Ile) n.1054G>A | |
| X | g.77684428C>A | CA413720556 | ATRX | c.828G>T (p.Leu276Phe) c.714G>T (p.Leu238Phe) c.*456G>T (n.*456G>T) c.663G>T (p.Leu221Phe) c.711G>T (p.Leu237Phe) c.825G>T (p.Leu275Phe) c.549G>T (p.Leu183Phe) n.1096G>T c.708G>T (p.Leu236Phe) c.660G>T (p.Leu220Phe) c.597G>T (p.Leu199Phe) c.594G>T (p.Leu198Phe) c.546G>T (p.Leu182Phe) n.1053G>T | dbSNP |
| X | g.77684428C>G | CA413720557 | ATRX | c.828G>C (p.Leu276Phe) c.714G>C (p.Leu238Phe) c.*456G>C (n.*456G>C) c.663G>C (p.Leu221Phe) c.711G>C (p.Leu237Phe) c.825G>C (p.Leu275Phe) c.549G>C (p.Leu183Phe) n.1096G>C c.708G>C (p.Leu236Phe) c.660G>C (p.Leu220Phe) c.597G>C (p.Leu199Phe) c.594G>C (p.Leu198Phe) c.546G>C (p.Leu182Phe) n.1053G>C | dbSNP gnomAD v4 |
| X | g.77684428C>T | CA517473236 | ATRX | c.828G>A (p.Leu276=) c.714G>A (p.Leu238=) c.*456G>A (n.*456G>A) c.663G>A (p.Leu221=) c.711G>A (p.Leu237=) c.825G>A (p.Leu275=) c.549G>A (p.Leu183=) n.1096G>A c.708G>A (p.Leu236=) c.660G>A (p.Leu220=) c.597G>A (p.Leu199=) c.594G>A (p.Leu198=) c.546G>A (p.Leu182=) n.1053G>A | dbSNP |
| X | g.77684429A>C | CA413720558 | ATRX | c.827T>G (p.Leu276Trp) c.713T>G (p.Leu238Trp) c.*455T>G (n.*455T>G) c.662T>G (p.Leu221Trp) c.710T>G (p.Leu237Trp) c.824T>G (p.Leu275Trp) c.548T>G (p.Leu183Trp) n.1095T>G c.707T>G (p.Leu236Trp) c.659T>G (p.Leu220Trp) c.596T>G (p.Leu199Trp) c.593T>G (p.Leu198Trp) c.545T>G (p.Leu182Trp) n.1052T>G | |
| X | g.77684429A>G | CA413720559 | ATRX | c.827T>C (p.Leu276Ser) c.713T>C (p.Leu238Ser) c.*455T>C (n.*455T>C) c.662T>C (p.Leu221Ser) c.710T>C (p.Leu237Ser) c.824T>C (p.Leu275Ser) c.548T>C (p.Leu183Ser) n.1095T>C c.707T>C (p.Leu236Ser) c.659T>C (p.Leu220Ser) c.596T>C (p.Leu199Ser) c.593T>C (p.Leu198Ser) c.545T>C (p.Leu182Ser) n.1052T>C | |
| X | g.77684429A>T | CA413720560 | ATRX | c.827T>A (p.Leu276Ter) c.713T>A (p.Leu238Ter) c.*455T>A (n.*455T>A) c.662T>A (p.Leu221Ter) c.710T>A (p.Leu237Ter) c.824T>A (p.Leu275Ter) c.548T>A (p.Leu183Ter) n.1095T>A c.707T>A (p.Leu236Ter) c.659T>A (p.Leu220Ter) c.596T>A (p.Leu199Ter) c.593T>A (p.Leu198Ter) c.545T>A (p.Leu182Ter) n.1052T>A | |
| X | g.77684430A>C | CA413720561 | ATRX | c.826T>G (p.Leu276Val) c.712T>G (p.Leu238Val) c.*454T>G (n.*454T>G) c.661T>G (p.Leu221Val) c.709T>G (p.Leu237Val) c.823T>G (p.Leu275Val) c.547T>G (p.Leu183Val) n.1094T>G c.706T>G (p.Leu236Val) c.658T>G (p.Leu220Val) c.595T>G (p.Leu199Val) c.592T>G (p.Leu198Val) c.544T>G (p.Leu182Val) n.1051T>G | COSMIC COSMIC |
| X | g.77684430A>G | CA517473237 | ATRX | c.826T>C (p.Leu276=) c.712T>C (p.Leu238=) c.*454T>C (n.*454T>C) c.661T>C (p.Leu221=) c.709T>C (p.Leu237=) c.823T>C (p.Leu275=) c.547T>C (p.Leu183=) n.1094T>C c.706T>C (p.Leu236=) c.658T>C (p.Leu220=) c.595T>C (p.Leu199=) c.592T>C (p.Leu198=) c.544T>C (p.Leu182=) n.1051T>C | dbSNP |
| X | g.77684430A>T | CA413720562 | ATRX | c.826T>A (p.Leu276Met) c.712T>A (p.Leu238Met) c.*454T>A (n.*454T>A) c.661T>A (p.Leu221Met) c.709T>A (p.Leu237Met) c.823T>A (p.Leu275Met) c.547T>A (p.Leu183Met) n.1094T>A c.706T>A (p.Leu236Met) c.658T>A (p.Leu220Met) c.595T>A (p.Leu199Met) c.592T>A (p.Leu198Met) c.544T>A (p.Leu182Met) n.1051T>A | |
| X | g.77684431G>A | CA517472950 | ATRX | c.825C>T (p.Asp275=) c.711C>T (p.Asp237=) c.*453C>T (n.*453C>T) c.660C>T (p.Asp220=) c.708C>T (p.Asp236=) c.822C>T (p.Asp274=) c.546C>T (p.Asp182=) n.1093C>T c.705C>T (p.Asp235=) c.657C>T (p.Asp219=) c.594C>T (p.Asp198=) c.591C>T (p.Asp197=) c.543C>T (p.Asp181=) n.1050C>T | gnomAD v4 |
| X | g.77684431G>C | CA413720563 | ATRX | c.825C>G (p.Asp275Glu) c.711C>G (p.Asp237Glu) c.*453C>G (n.*453C>G) c.660C>G (p.Asp220Glu) c.708C>G (p.Asp236Glu) c.822C>G (p.Asp274Glu) c.546C>G (p.Asp182Glu) n.1093C>G c.705C>G (p.Asp235Glu) c.657C>G (p.Asp219Glu) c.594C>G (p.Asp198Glu) c.591C>G (p.Asp197Glu) c.543C>G (p.Asp181Glu) n.1050C>G | dbSNP |
| X | g.77684431G= | CA2438987781 | ATRX | c.825C= (p.Asp275=) c.711C= (p.Asp237=) c.*453C= (n.*453C=) c.660C= (p.Asp220=) c.708C= (p.Asp236=) c.822C= (p.Asp274=) c.546C= (p.Asp182=) n.1093C= c.705C= (p.Asp235=) c.657C= (p.Asp219=) c.594C= (p.Asp198=) c.591C= (p.Asp197=) c.543C= (p.Asp181=) n.1050C= | |
| X | g.77684431G>T | CA413720564 | ATRX | c.825C>A (p.Asp275Glu) c.711C>A (p.Asp237Glu) c.*453C>A (n.*453C>A) c.660C>A (p.Asp220Glu) c.708C>A (p.Asp236Glu) c.822C>A (p.Asp274Glu) c.546C>A (p.Asp182Glu) n.1093C>A c.705C>A (p.Asp235Glu) c.657C>A (p.Asp219Glu) c.594C>A (p.Asp198Glu) c.591C>A (p.Asp197Glu) c.543C>A (p.Asp181Glu) n.1050C>A | |
| X | g.77684432T>A | CA413720565 | ATRX | c.824A>T (p.Asp275Val) c.710A>T (p.Asp237Val) c.*452A>T (n.*452A>T) c.659A>T (p.Asp220Val) c.707A>T (p.Asp236Val) c.821A>T (p.Asp274Val) c.545A>T (p.Asp182Val) n.1092A>T c.704A>T (p.Asp235Val) c.656A>T (p.Asp219Val) c.593A>T (p.Asp198Val) c.590A>T (p.Asp197Val) c.542A>T (p.Asp181Val) n.1049A>T | |
| X | g.77684432T>C | CA413720566 | ATRX | c.824A>G (p.Asp275Gly) c.710A>G (p.Asp237Gly) c.*452A>G (n.*452A>G) c.659A>G (p.Asp220Gly) c.707A>G (p.Asp236Gly) c.821A>G (p.Asp274Gly) c.545A>G (p.Asp182Gly) n.1092A>G c.704A>G (p.Asp235Gly) c.656A>G (p.Asp219Gly) c.593A>G (p.Asp198Gly) c.590A>G (p.Asp197Gly) c.542A>G (p.Asp181Gly) n.1049A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.77684432T>G | CA413720567 | ATRX | c.824A>C (p.Asp275Ala) c.710A>C (p.Asp237Ala) c.*452A>C (n.*452A>C) c.659A>C (p.Asp220Ala) c.707A>C (p.Asp236Ala) c.821A>C (p.Asp274Ala) c.545A>C (p.Asp182Ala) n.1092A>C c.704A>C (p.Asp235Ala) c.656A>C (p.Asp219Ala) c.593A>C (p.Asp198Ala) c.590A>C (p.Asp197Ala) c.542A>C (p.Asp181Ala) n.1049A>C | |
| X | g.77684432T= | CA2438987782 | ATRX | c.824A= (p.Asp275=) c.710A= (p.Asp237=) c.*452A= (n.*452A=) c.659A= (p.Asp220=) c.707A= (p.Asp236=) c.821A= (p.Asp274=) c.545A= (p.Asp182=) n.1092A= c.704A= (p.Asp235=) c.656A= (p.Asp219=) c.593A= (p.Asp198=) c.590A= (p.Asp197=) c.542A= (p.Asp181=) n.1049A= | |
| X | g.77684433C>A | CA413720568 | ATRX | c.823G>T (p.Asp275Tyr) c.709G>T (p.Asp237Tyr) c.*451G>T (n.*451G>T) c.658G>T (p.Asp220Tyr) c.706G>T (p.Asp236Tyr) c.820G>T (p.Asp274Tyr) c.544G>T (p.Asp182Tyr) n.1091G>T c.703G>T (p.Asp235Tyr) c.655G>T (p.Asp219Tyr) c.592G>T (p.Asp198Tyr) c.589G>T (p.Asp197Tyr) c.541G>T (p.Asp181Tyr) n.1048G>T | dbSNP |
| X | g.77684433C>G | CA413720569 | ATRX | c.823G>C (p.Asp275His) c.709G>C (p.Asp237His) c.*451G>C (n.*451G>C) c.658G>C (p.Asp220His) c.706G>C (p.Asp236His) c.820G>C (p.Asp274His) c.544G>C (p.Asp182His) n.1091G>C c.703G>C (p.Asp235His) c.655G>C (p.Asp219His) c.592G>C (p.Asp198His) c.589G>C (p.Asp197His) c.541G>C (p.Asp181His) n.1048G>C | dbSNP |
| X | g.77684433C>T | CA413720570 | ATRX | c.823G>A (p.Asp275Asn) c.709G>A (p.Asp237Asn) c.*451G>A (n.*451G>A) c.658G>A (p.Asp220Asn) c.706G>A (p.Asp236Asn) c.820G>A (p.Asp274Asn) c.544G>A (p.Asp182Asn) n.1091G>A c.703G>A (p.Asp235Asn) c.655G>A (p.Asp219Asn) c.592G>A (p.Asp198Asn) c.589G>A (p.Asp197Asn) c.541G>A (p.Asp181Asn) n.1048G>A | dbSNP |
| X | g.77684434C>A | CA413720571 | ATRX | c.822G>T (p.Leu274Phe) c.708G>T (p.Leu236Phe) c.*450G>T (n.*450G>T) c.657G>T (p.Leu219Phe) c.705G>T (p.Leu235Phe) c.819G>T (p.Leu273Phe) c.543G>T (p.Leu181Phe) n.1090G>T c.702G>T (p.Leu234Phe) c.654G>T (p.Leu218Phe) c.591G>T (p.Leu197Phe) c.588G>T (p.Leu196Phe) c.540G>T (p.Leu180Phe) n.1047G>T | dbSNP |
| X | g.77684434C>G | CA413720572 | ATRX | c.822G>C (p.Leu274Phe) c.708G>C (p.Leu236Phe) c.*450G>C (n.*450G>C) c.657G>C (p.Leu219Phe) c.705G>C (p.Leu235Phe) c.819G>C (p.Leu273Phe) c.543G>C (p.Leu181Phe) n.1090G>C c.702G>C (p.Leu234Phe) c.654G>C (p.Leu218Phe) c.591G>C (p.Leu197Phe) c.588G>C (p.Leu196Phe) c.540G>C (p.Leu180Phe) n.1047G>C | dbSNP |
| X | g.77684434C>T | CA517472953 | ATRX | c.822G>A (p.Leu274=) c.708G>A (p.Leu236=) c.*450G>A (n.*450G>A) c.657G>A (p.Leu219=) c.705G>A (p.Leu235=) c.819G>A (p.Leu273=) c.543G>A (p.Leu181=) n.1090G>A c.702G>A (p.Leu234=) c.654G>A (p.Leu218=) c.591G>A (p.Leu197=) c.588G>A (p.Leu196=) c.540G>A (p.Leu180=) n.1047G>A | dbSNP |
| X | g.77684435A>C | CA413720573 | ATRX | c.821T>G (p.Leu274Trp) c.707T>G (p.Leu236Trp) c.*449T>G (n.*449T>G) c.656T>G (p.Leu219Trp) c.704T>G (p.Leu235Trp) c.818T>G (p.Leu273Trp) c.542T>G (p.Leu181Trp) n.1089T>G c.701T>G (p.Leu234Trp) c.653T>G (p.Leu218Trp) c.590T>G (p.Leu197Trp) c.587T>G (p.Leu196Trp) c.539T>G (p.Leu180Trp) n.1046T>G | |
| X | g.77684435A>G | CA413720574 | ATRX | c.821T>C (p.Leu274Ser) c.707T>C (p.Leu236Ser) c.*449T>C (n.*449T>C) c.656T>C (p.Leu219Ser) c.704T>C (p.Leu235Ser) c.818T>C (p.Leu273Ser) c.542T>C (p.Leu181Ser) n.1089T>C c.701T>C (p.Leu234Ser) c.653T>C (p.Leu218Ser) c.590T>C (p.Leu197Ser) c.587T>C (p.Leu196Ser) c.539T>C (p.Leu180Ser) n.1046T>C | dbSNP |
| X | g.77684435A>T | CA413720575 | ATRX | c.821T>A (p.Leu274Ter) c.707T>A (p.Leu236Ter) c.*449T>A (n.*449T>A) c.656T>A (p.Leu219Ter) c.704T>A (p.Leu235Ter) c.818T>A (p.Leu273Ter) c.542T>A (p.Leu181Ter) n.1089T>A c.701T>A (p.Leu234Ter) c.653T>A (p.Leu218Ter) c.590T>A (p.Leu197Ter) c.587T>A (p.Leu196Ter) c.539T>A (p.Leu180Ter) n.1046T>A | |
| X | g.77684436dup | CA645606149 | ATRX | c.821dup (p.Leu274PhefsTer8) c.707dup (p.Leu236PhefsTer8) c.*449dup (n.*449dup) c.656dup (p.Leu219PhefsTer8) c.704dup (p.Leu235PhefsTer8) c.818dup (p.Leu273PhefsTer8) c.542dup (p.Leu181PhefsTer8) n.1089dup c.701dup (p.Leu234PhefsTer8) c.653dup (p.Leu218PhefsTer8) c.590dup (p.Leu197PhefsTer8) c.587dup (p.Leu196PhefsTer8) c.539dup (p.Leu180PhefsTer8) n.1046dup | COSMIC COSMIC |
| X | g.77684436A= | CA2438987783 | ATRX | c.820T= (p.Leu274=) c.706T= (p.Leu236=) c.*448T= (n.*448T=) c.655T= (p.Leu219=) c.703T= (p.Leu235=) c.817T= (p.Leu273=) c.541T= (p.Leu181=) n.1088T= c.700T= (p.Leu234=) c.652T= (p.Leu218=) c.589T= (p.Leu197=) c.586T= (p.Leu196=) c.538T= (p.Leu180=) n.1045T= | |
| X | g.77684436A>C | CA413720576 | ATRX | c.820T>G (p.Leu274Val) c.706T>G (p.Leu236Val) c.*448T>G (n.*448T>G) c.655T>G (p.Leu219Val) c.703T>G (p.Leu235Val) c.817T>G (p.Leu273Val) c.541T>G (p.Leu181Val) n.1088T>G c.700T>G (p.Leu234Val) c.652T>G (p.Leu218Val) c.589T>G (p.Leu197Val) c.586T>G (p.Leu196Val) c.538T>G (p.Leu180Val) n.1045T>G | dbSNP |
| X | g.77684436A>G | CA10458259 | ATRX | c.820T>C (p.Leu274=) c.706T>C (p.Leu236=) c.*448T>C (n.*448T>C) c.655T>C (p.Leu219=) c.703T>C (p.Leu235=) c.817T>C (p.Leu273=) c.541T>C (p.Leu181=) n.1088T>C c.700T>C (p.Leu234=) c.652T>C (p.Leu218=) c.589T>C (p.Leu197=) c.586T>C (p.Leu196=) c.538T>C (p.Leu180=) n.1045T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.77684436A>T | CA413720577 | ATRX | c.820T>A (p.Leu274Met) c.706T>A (p.Leu236Met) c.*448T>A (n.*448T>A) c.655T>A (p.Leu219Met) c.703T>A (p.Leu235Met) c.817T>A (p.Leu273Met) c.541T>A (p.Leu181Met) n.1088T>A c.700T>A (p.Leu234Met) c.652T>A (p.Leu218Met) c.589T>A (p.Leu197Met) c.586T>A (p.Leu196Met) c.538T>A (p.Leu180Met) n.1045T>A | dbSNP |
| X | g.77684437C>A | CA413720579 | ATRX | c.819G>T (p.Leu273Phe) c.705G>T (p.Leu235Phe) c.*447G>T (n.*447G>T) c.654G>T (p.Leu218Phe) c.702G>T (p.Leu234Phe) c.816G>T (p.Leu272Phe) c.540G>T (p.Leu180Phe) n.1087G>T c.699G>T (p.Leu233Phe) c.651G>T (p.Leu217Phe) c.588G>T (p.Leu196Phe) c.585G>T (p.Leu195Phe) c.537G>T (p.Leu179Phe) n.1044G>T | |
| X | g.77684437C>G | CA413720578 | ATRX | c.819G>C (p.Leu273Phe) c.705G>C (p.Leu235Phe) c.*447G>C (n.*447G>C) c.654G>C (p.Leu218Phe) c.702G>C (p.Leu234Phe) c.816G>C (p.Leu272Phe) c.540G>C (p.Leu180Phe) n.1087G>C c.699G>C (p.Leu233Phe) c.651G>C (p.Leu217Phe) c.588G>C (p.Leu196Phe) c.585G>C (p.Leu195Phe) c.537G>C (p.Leu179Phe) n.1044G>C | dbSNP |
| X | g.77684437C>T | CA517472959 | ATRX | c.819G>A (p.Leu273=) c.705G>A (p.Leu235=) c.*447G>A (n.*447G>A) c.654G>A (p.Leu218=) c.702G>A (p.Leu234=) c.816G>A (p.Leu272=) c.540G>A (p.Leu180=) n.1087G>A c.699G>A (p.Leu233=) c.651G>A (p.Leu217=) c.588G>A (p.Leu196=) c.585G>A (p.Leu195=) c.537G>A (p.Leu179=) n.1044G>A | dbSNP |
| X | g.77684437_77684438insT | CA517472960 | ATRX | c.818_819insA (p.Leu274ValfsTer8) c.704_705insA (p.Leu236ValfsTer8) c.*446_*447insA (n.*446_*447insA) c.653_654insA (p.Leu219ValfsTer8) c.701_702insA (p.Leu235ValfsTer8) c.815_816insA (p.Leu273ValfsTer8) c.539_540insA (p.Leu181ValfsTer8) n.1086_1087insA c.698_699insA (p.Leu234ValfsTer8) c.650_651insA (p.Leu218ValfsTer8) c.587_588insA (p.Leu197ValfsTer8) c.584_585insA (p.Leu196ValfsTer8) c.536_537insA (p.Leu180ValfsTer8) n.1043_1044insA | |
| X | g.77684438A>C | CA413720580 | ATRX | c.818T>G (p.Leu273Trp) c.704T>G (p.Leu235Trp) c.*446T>G (n.*446T>G) c.653T>G (p.Leu218Trp) c.701T>G (p.Leu234Trp) c.815T>G (p.Leu272Trp) c.539T>G (p.Leu180Trp) n.1086T>G c.698T>G (p.Leu233Trp) c.650T>G (p.Leu217Trp) c.587T>G (p.Leu196Trp) c.584T>G (p.Leu195Trp) c.536T>G (p.Leu179Trp) n.1043T>G | |
| X | g.77684438A>G | CA413720582 | ATRX | c.818T>C (p.Leu273Ser) c.704T>C (p.Leu235Ser) c.*446T>C (n.*446T>C) c.653T>C (p.Leu218Ser) c.701T>C (p.Leu234Ser) c.815T>C (p.Leu272Ser) c.539T>C (p.Leu180Ser) n.1086T>C c.698T>C (p.Leu233Ser) c.650T>C (p.Leu217Ser) c.587T>C (p.Leu196Ser) c.584T>C (p.Leu195Ser) c.536T>C (p.Leu179Ser) n.1043T>C | |
| X | g.77684438A>T | CA413720581 | ATRX | c.818T>A (p.Leu273Ter) c.704T>A (p.Leu235Ter) c.*446T>A (n.*446T>A) c.653T>A (p.Leu218Ter) c.701T>A (p.Leu234Ter) c.815T>A (p.Leu272Ter) c.539T>A (p.Leu180Ter) n.1086T>A c.698T>A (p.Leu233Ter) c.650T>A (p.Leu217Ter) c.587T>A (p.Leu196Ter) c.584T>A (p.Leu195Ter) c.536T>A (p.Leu179Ter) n.1043T>A | dbSNP |
| X | g.77684440dup | CA645606150 | ATRX | c.818dup (p.Leu273PhefsTer9) c.704dup (p.Leu235PhefsTer9) c.*446dup (n.*446dup) c.653dup (p.Leu218PhefsTer9) c.701dup (p.Leu234PhefsTer9) c.815dup (p.Leu272PhefsTer9) c.539dup (p.Leu180PhefsTer9) n.1086dup c.698dup (p.Leu233PhefsTer9) c.650dup (p.Leu217PhefsTer9) c.587dup (p.Leu196PhefsTer9) c.584dup (p.Leu195PhefsTer9) c.536dup (p.Leu179PhefsTer9) n.1043dup | COSMIC COSMIC |
| X | g.77684439A>C | CA413720583 | ATRX | c.817T>G (p.Leu273Val) c.703T>G (p.Leu235Val) c.*445T>G (n.*445T>G) c.652T>G (p.Leu218Val) c.700T>G (p.Leu234Val) c.814T>G (p.Leu272Val) c.538T>G (p.Leu180Val) n.1085T>G c.697T>G (p.Leu233Val) c.649T>G (p.Leu217Val) c.586T>G (p.Leu196Val) c.583T>G (p.Leu195Val) c.535T>G (p.Leu179Val) n.1042T>G | |
| X | g.77684439A>G | CA517472961 | ATRX | c.817T>C (p.Leu273=) c.703T>C (p.Leu235=) c.*445T>C (n.*445T>C) c.652T>C (p.Leu218=) c.700T>C (p.Leu234=) c.814T>C (p.Leu272=) c.538T>C (p.Leu180=) n.1085T>C c.697T>C (p.Leu233=) c.649T>C (p.Leu217=) c.586T>C (p.Leu196=) c.583T>C (p.Leu195=) c.535T>C (p.Leu179=) n.1042T>C | |
| X | g.77684439A>T | CA413720584 | ATRX | c.817T>A (p.Leu273Met) c.703T>A (p.Leu235Met) c.*445T>A (n.*445T>A) c.652T>A (p.Leu218Met) c.700T>A (p.Leu234Met) c.814T>A (p.Leu272Met) c.538T>A (p.Leu180Met) n.1085T>A c.697T>A (p.Leu233Met) c.649T>A (p.Leu217Met) c.586T>A (p.Leu196Met) c.583T>A (p.Leu195Met) c.535T>A (p.Leu179Met) n.1042T>A | dbSNP |
| X | g.77684440A>C | CA517472963 | ATRX | c.816T>G (p.Pro272=) c.702T>G (p.Pro234=) c.*444T>G (n.*444T>G) c.651T>G (p.Pro217=) c.699T>G (p.Pro233=) c.813T>G (p.Pro271=) c.537T>G (p.Pro179=) n.1084T>G c.696T>G (p.Pro232=) c.648T>G (p.Pro216=) c.585T>G (p.Pro195=) c.582T>G (p.Pro194=) c.534T>G (p.Pro178=) n.1041T>G | |
| X | g.77684440A>G | CA517472964 | ATRX | c.816T>C (p.Pro272=) c.702T>C (p.Pro234=) c.*444T>C (n.*444T>C) c.651T>C (p.Pro217=) c.699T>C (p.Pro233=) c.813T>C (p.Pro271=) c.537T>C (p.Pro179=) n.1084T>C c.696T>C (p.Pro232=) c.648T>C (p.Pro216=) c.585T>C (p.Pro195=) c.582T>C (p.Pro194=) c.534T>C (p.Pro178=) n.1041T>C | dbSNP |
| X | g.77684440A>T | CA517472965 | ATRX | c.816T>A (p.Pro272=) c.702T>A (p.Pro234=) c.*444T>A (n.*444T>A) c.651T>A (p.Pro217=) c.699T>A (p.Pro233=) c.813T>A (p.Pro271=) c.537T>A (p.Pro179=) n.1084T>A c.696T>A (p.Pro232=) c.648T>A (p.Pro216=) c.585T>A (p.Pro195=) c.582T>A (p.Pro194=) c.534T>A (p.Pro178=) n.1041T>A | dbSNP |
| X | g.77684441G>A | CA413720585 | ATRX | c.815C>T (p.Pro272Leu) c.701C>T (p.Pro234Leu) c.*443C>T (n.*443C>T) c.650C>T (p.Pro217Leu) c.698C>T (p.Pro233Leu) c.812C>T (p.Pro271Leu) c.536C>T (p.Pro179Leu) n.1083C>T c.695C>T (p.Pro232Leu) c.647C>T (p.Pro216Leu) c.584C>T (p.Pro195Leu) c.581C>T (p.Pro194Leu) c.533C>T (p.Pro178Leu) n.1040C>T | dbSNP |