| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.76983616_76983631del | CA2687718867 | PEX2 | c.549_564del (p.Ile183MetfsTer4) | gnomAD v4 |
| 8 | g.76983625T>A | CA371557090 | PEX2 | c.554A>T (p.Glu185Val) | |
| 8 | g.76983625T>C | CA371557091 | PEX2 | c.554A>G (p.Glu185Gly) | dbSNP |
| 8 | g.76983625T>G | CA371557092 | PEX2 | c.554A>C (p.Glu185Ala) | |
| 8 | g.76983625T= | CA1795351296 | PEX2 | c.554A= (p.Glu185=) | |
| 8 | g.76983626C>A | CA371557093 | PEX2 | c.553G>T (p.Glu185Ter) | |
| 8 | g.76983626C>G | CA371557094 | PEX2 | c.553G>C (p.Glu185Gln) | |
| 8 | g.76983626C>T | CA371557095 | PEX2 | c.553G>A (p.Glu185Lys) | gnomAD v4 |
| 8 | g.76983627A= | CA1795351298 | PEX2 | c.552T= (p.Cys184=) c.552T= (p.Arg184=) | |
| 8 | g.76983627A>C | CA371557097 | PEX2 | c.552T>G (p.Cys184Trp) c.552T>G (p.Arg184=) | dbSNP |
| 8 | g.76983627A>G | CA461773388 | PEX2 | c.552T>C (p.Cys184=) c.552T>C (p.Arg184=) | |
| 8 | g.76983627A>T | CA371557096 | PEX2 | c.552T>A (p.Cys184Ter) c.552T>A (p.Arg184=) | |
| 8 | g.76983628C>A | CA4788688 | PEX2 | c.551G>T (p.Cys184Phe) c.551G>T (p.Arg184Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983628C= | CA1795351306 | PEX2 | c.551G= (p.Cys184=) c.551G= (p.Arg184=) | |
| 8 | g.76983628C>G | CA371557098 | PEX2 | c.551G>C (p.Cys184Ser) c.551G>C (p.Arg184Pro) | |
| 8 | g.76983628C>T | CA4788687 | PEX2 | c.551G>A (p.Cys184Tyr) c.551G>A (p.Arg184His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983628_76983629delinsAG | CA2573143377 | PEX2 | c.550_551delinsCT (p.Cys184Leu) | ClinVar dbSNP |
| 8 | g.76983628_76983629delinsCA | CA1795351303 | PEX2 | c.550_551delinsTG (p.Cys184=) | |
| 8 | g.76983628_76983629delinsTG | CA658797117 | PEX2 | c.550_551delinsCA (p.Cys184His) | |
| 8 | g.76983628_76983630delinsCAT | CA1795351304 | PEX2 | c.549_551delinsATG (p.Ile183=) | |
| 8 | g.76983628_76983629insG | CA2573143378 | PEX2 | c.550_551insC (p.Cys184SerfsTer2) | ClinVar dbSNP |
| 8 | g.76983629del | CA179988266 | PEX2 | c.550del (p.Cys184ValfsTer8) | ClinVar dbSNP gnomAD v4 |
| 8 | g.76983629A= | CA658683512 | PEX2 | c.550T= (p.Cys184=) | |
| 8 | g.76983629A>C | CA371557099 | PEX2 | c.550T>G (p.Cys184Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983629A>G | CA180286 | PEX2 | c.550T>C (p.Cys184Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983629A>T | CA371557100 | PEX2 | c.550T>A (p.Cys184Ser) | gnomAD v4 |
| 8 | g.76983629delinsGG | CA2695201484 | PEX2 | c.550delinsCC (p.Cys184ProfsTer2) | ClinVar |
| 8 | g.76983631_76983632del | CA4788689 | PEX2 | c.549_550del (p.Ile183MetfsTer2) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983630T>A | CA461773396 | PEX2 | c.549A>T (p.Ile183=) | |
| 8 | g.76983630T>C | CA371557101 | PEX2 | c.549A>G (p.Ile183Met) | |
| 8 | g.76983630T>G | CA461773397 | PEX2 | c.549A>C (p.Ile183=) | |
| 8 | g.76983630_76983631insGT | CA1115556906 | PEX2 | c.549_550insCA (p.Cys184HisfsTer9) c.549_550insCA (p.Arg184HisfsTer9) | gnomAD v3 gnomAD v4 |
| 8 | g.76983631A= | CA1795351332 | PEX2 | c.548T= (p.Ile183=) | |
| 8 | g.76983631A>C | CA371557102 | PEX2 | c.548T>G (p.Ile183Arg) | |
| 8 | g.76983631A>G | CA4788690 | PEX2 | c.548T>C (p.Ile183Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983631A>T | CA371557103 | PEX2 | c.548T>A (p.Ile183Lys) | |
| 8 | g.76983632del | CA2555174319 | PEX2 | c.547del (p.Ile183TyrfsTer9) | |
| 8 | g.76983632T>A | CA371557104 | PEX2 | c.547A>T (p.Ile183Leu) | |
| 8 | g.76983632T>C | CA371557105 | PEX2 | c.547A>G (p.Ile183Val) | gnomAD v4 |
| 8 | g.76983632T>G | CA371557106 | PEX2 | c.547A>C (p.Ile183Leu) | |
| 8 | g.76983633G>A | CA461773400 | PEX2 | c.546C>T (p.Asn182=) | |
| 8 | g.76983633G>C | CA371557107 | PEX2 | c.546C>G (p.Asn182Lys) | |
| 8 | g.76983633G>T | CA371557108 | PEX2 | c.546C>A (p.Asn182Lys) | |
| 8 | g.76983634T>A | CA371557109 | PEX2 | c.545A>T (p.Asn182Ile) | |
| 8 | g.76983634T>C | CA371557110 | PEX2 | c.545A>G (p.Asn182Ser) | gnomAD v4 |
| 8 | g.76983634T>G | CA371557111 | PEX2 | c.545A>C (p.Asn182Thr) | |
| 8 | g.76983635T>A | CA371557112 | PEX2 | c.544A>T (p.Asn182Tyr) | |
| 8 | g.76983635T>C | CA371557113 | PEX2 | c.544A>G (p.Asn182Asp) | |
| 8 | g.76983635T>G | CA371557114 | PEX2 | c.544A>C (p.Asn182His) | |
| 8 | g.76983636T>A | CA371557115 | PEX2 | c.543A>T (p.Gln181His) | |
| 8 | g.76983636T>C | CA461773408 | PEX2 | c.543A>G (p.Gln181=) | |
| 8 | g.76983636T>G | CA371557116 | PEX2 | c.543A>C (p.Gln181His) | |
| 8 | g.76983637T>A | CA371557117 | PEX2 | c.542A>T (p.Gln181Leu) | |
| 8 | g.76983637T>C | CA371557118 | PEX2 | c.542A>G (p.Gln181Arg) | COSMIC |
| 8 | g.76983637T>G | CA371557119 | PEX2 | c.542A>C (p.Gln181Pro) | |
| 8 | g.76983638G>A | CA371557122 | PEX2 | c.541C>T (p.Gln181Ter) | gnomAD v4 |
| 8 | g.76983638G>C | CA371557121 | PEX2 | c.541C>G (p.Gln181Glu) | |
| 8 | g.76983638G>T | CA371557120 | PEX2 | c.541C>A (p.Gln181Lys) | |
| 8 | g.76983639A= | CA1795351336 | PEX2 | c.540T= (p.Pro180=) | |
| 8 | g.76983639A>C | CA461773412 | PEX2 | c.540T>G (p.Pro180=) | |
| 8 | g.76983639A>G | CA461773414 | PEX2 | c.540T>C (p.Pro180=) | dbSNP |
| 8 | g.76983639A>T | CA461773413 | PEX2 | c.540T>A (p.Pro180=) | |
| 8 | g.76983640G>A | CA371557125 | PEX2 | c.539C>T (p.Pro180Leu) c.539C>T | |
| 8 | g.76983640G>C | CA371557123 | PEX2 | c.539C>G (p.Pro180Arg) c.539C>G | |
| 8 | g.76983640G>T | CA371557124 | PEX2 | c.539C>A (p.Pro180His) c.539C>A | |
| 8 | g.76983641G>A | CA371557126 | PEX2 | c.538C>T (p.Pro180Ser) c.538C>T | |
| 8 | g.76983641G>C | CA371557127 | PEX2 | c.538C>G (p.Pro180Ala) c.538C>G | |
| 8 | g.76983641G>T | CA371557128 | PEX2 | c.538C>A (p.Pro180Thr) c.538C>A | |
| 8 | g.76983642C>A | CA371557129 | PEX2 | c.537G>T (p.Lys179Asn) | |
| 8 | g.76983642C>G | CA371557130 | PEX2 | c.537G>C (p.Lys179Asn) | |
| 8 | g.76983642C>T | CA461773417 | PEX2 | c.537G>A (p.Lys179=) | gnomAD v4 |
| 8 | g.76983643T>A | CA371557131 | PEX2 | c.536A>T (p.Lys179Met) | |
| 8 | g.76983643T>C | CA371557132 | PEX2 | c.536A>G (p.Lys179Arg) | |
| 8 | g.76983643T>G | CA371557133 | PEX2 | c.536A>C (p.Lys179Thr) | |
| 8 | g.76983644T>A | CA371557134 | PEX2 | c.535A>T (p.Lys179Ter) | |
| 8 | g.76983644T>C | CA371557135 | PEX2 | c.535A>G (p.Lys179Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.76983644T>G | CA371557136 | PEX2 | c.535A>C (p.Lys179Gln) | |
| 8 | g.76983644T= | CA1795351339 | PEX2 | c.535A= (p.Lys179=) | |
| 8 | g.76983645G>A | CA461773420 | PEX2 | c.534C>T (p.Cys178=) | |
| 8 | g.76983645G>C | CA371557138 | PEX2 | c.534C>G (p.Cys178Trp) | |
| 8 | g.76983645G>T | CA371557137 | PEX2 | c.534C>A (p.Cys178Ter) | |
| 8 | g.76983646C>A | CA371557139 | PEX2 | c.533G>T (p.Cys178Phe) | |
| 8 | g.76983646C>G | CA371557140 | PEX2 | c.533G>C (p.Cys178Ser) | |
| 8 | g.76983646C>T | CA371557141 | PEX2 | c.533G>A (p.Cys178Tyr) | |
| 8 | g.76983647A>C | CA371557142 | PEX2 | c.532T>G (p.Cys178Gly) | |
| 8 | g.76983647A>G | CA371557143 | PEX2 | c.532T>C (p.Cys178Arg) | |
| 8 | g.76983647A>T | CA371557144 | PEX2 | c.532T>A (p.Cys178Ser) | |
| 8 | g.76983648A>C | CA371557145 | PEX2 | c.531T>G (p.Phe177Leu) | |
| 8 | g.76983648A>G | CA461773423 | PEX2 | c.531T>C (p.Phe177=) | |
| 8 | g.76983648A>T | CA371557146 | PEX2 | c.531T>A (p.Phe177Leu) | |
| 8 | g.76983649A>C | CA371557147 | PEX2 | c.530T>G (p.Phe177Cys) | |
| 8 | g.76983649A>G | CA371557148 | PEX2 | c.530T>C (p.Phe177Ser) | |
| 8 | g.76983649A>T | CA371557149 | PEX2 | c.530T>A (p.Phe177Tyr) | |
| 8 | g.76983650A>C | CA371557150 | PEX2 | c.529T>G (p.Phe177Val) | gnomAD v4 |
| 8 | g.76983650A>G | CA371557151 | PEX2 | c.529T>C (p.Phe177Leu) | |
| 8 | g.76983650A>T | CA371557152 | PEX2 | c.529T>A (p.Phe177Ile) | |
| 8 | g.76983651T>A | CA461773426 | PEX2 | c.528A>T (p.Val176=) | |
| 8 | g.76983651T>C | CA461773427 | PEX2 | c.528A>G (p.Val176=) | gnomAD v4 |
| 8 | g.76983651T>G | CA461773428 | PEX2 | c.528A>C (p.Val176=) | |
| 8 | g.76983652A>C | CA371557154 | PEX2 | c.527T>G (p.Val176Gly) | |
| 8 | g.76983652A>G | CA371557155 | PEX2 | c.527T>C (p.Val176Ala) | |
| 8 | g.76983652A>T | CA371557153 | PEX2 | c.527T>A (p.Val176Glu) | |
| 8 | g.76983653C>A | CA371557156 | PEX2 | c.526G>T (p.Val176Leu) | |
| 8 | g.76983653C>G | CA371557158 | PEX2 | c.526G>C (p.Val176Leu) | |
| 8 | g.76983653C>T | CA371557157 | PEX2 | c.526G>A (p.Val176Ile) | ClinVar gnomAD v4 |
| 8 | g.76983654A= | CA1795351341 | PEX2 | c.525T= (p.Ser175=) | |
| 8 | g.76983654A>C | CA461773432 | PEX2 | c.525T>G (p.Ser175=) | |
| 8 | g.76983654A>G | CA461773433 | PEX2 | c.525T>C (p.Ser175=) | dbSNP |
| 8 | g.76983654A>T | CA461773434 | PEX2 | c.525T>A (p.Ser175=) | |
| 8 | g.76983655del | CA2573143379 | PEX2 | c.524del (p.Ser175LeufsTer17) c.524del (p.Ser175LeufsTer?) | ClinVar dbSNP gnomAD v4 |
| 8 | g.76983655G>A | CA371557159 | PEX2 | c.524C>T (p.Ser175Phe) | gnomAD v4 COSMIC |
| 8 | g.76983655G>C | CA4788691 | PEX2 | c.524C>G (p.Ser175Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983655G= | CA1795351344 | PEX2 | c.524C= (p.Ser175=) | |
| 8 | g.76983655G>T | CA371557160 | PEX2 | c.524C>A (p.Ser175Tyr) | |
| 8 | g.76983659_76983662del | CA2695201485 | PEX2 | c.521_524del (p.His174LeufsTer17) c.521_524del (p.His174LeufsTer?) | ClinVar |
| 8 | g.76983656A>C | CA371557161 | PEX2 | c.523T>G (p.Ser175Ala) | |
| 8 | g.76983656A>G | CA371557162 | PEX2 | c.523T>C (p.Ser175Pro) | |
| 8 | g.76983656A>T | CA371557163 | PEX2 | c.523T>A (p.Ser175Thr) | |
| 8 | g.76983657A>C | CA371557164 | PEX2 | c.522T>G (p.His174Gln) | |
| 8 | g.76983657A>G | CA461773436 | PEX2 | c.522T>C (p.His174=) | |
| 8 | g.76983657A>T | CA371557165 | PEX2 | c.522T>A (p.His174Gln) | |
| 8 | g.76983658T>A | CA371557166 | PEX2 | c.521A>T (p.His174Leu) | |
| 8 | g.76983658T>C | CA371557167 | PEX2 | c.521A>G (p.His174Arg) | dbSNP gnomAD v4 |
| 8 | g.76983658T>G | CA371557168 | PEX2 | c.521A>C (p.His174Pro) | |
| 8 | g.76983658T= | CA1795351349 | PEX2 | c.521A= (p.His174=) | |
| 8 | g.76983659G>A | CA371557169 | PEX2 | c.520C>T (p.His174Tyr) | |
| 8 | g.76983659G>C | CA371557170 | PEX2 | c.520C>G (p.His174Asp) | |
| 8 | g.76983659G>T | CA371557171 | PEX2 | c.520C>A (p.His174Asn) | |
| 8 | g.76983660A>C | CA371557172 | PEX2 | c.519T>G (p.Ile173Met) | |
| 8 | g.76983660A>G | CA461773440 | PEX2 | c.519T>C (p.Ile173=) | |
| 8 | g.76983660A>T | CA461773441 | PEX2 | c.519T>A (p.Ile173=) | |
| 8 | g.76983661A>C | CA371557173 | PEX2 | c.518T>G (p.Ile173Ser) | |
| 8 | g.76983661A>G | CA371557174 | PEX2 | c.518T>C (p.Ile173Thr) | |
| 8 | g.76983661A>T | CA371557175 | PEX2 | c.518T>A (p.Ile173Asn) | |
| 8 | g.76983662T>A | CA371557176 | PEX2 | c.517A>T (p.Ile173Phe) | gnomAD v4 |
| 8 | g.76983662T>C | CA4788692 | PEX2 | c.517A>G (p.Ile173Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983662T>G | CA371557177 | PEX2 | c.517A>C (p.Ile173Leu) | |
| 8 | g.76983662T= | CA1795351359 | PEX2 | c.517A= (p.Ile173=) | |
| 8 | g.76983663A= | CA1795351364 | PEX2 | c.516T= (p.Gly172=) | |
| 8 | g.76983663A>C | CA461773443 | PEX2 | c.516T>G (p.Gly172=) | |
| 8 | g.76983663A>G | CA4788693 | PEX2 | c.516T>C (p.Gly172=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983663A>T | CA461773446 | PEX2 | c.516T>A (p.Gly172=) | |
| 8 | g.76983664C>A | CA371557178 | PEX2 | c.515G>T (p.Gly172Val) | |
| 8 | g.76983664C= | CA1795351368 | PEX2 | c.515G= (p.Gly172=) | |
| 8 | g.76983664C>G | CA371557179 | PEX2 | c.515G>C (p.Gly172Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983664C>T | CA371557180 | PEX2 | c.515G>A (p.Gly172Asp) | |
| 8 | g.76983665C>A | CA371557181 | PEX2 | c.514G>T (p.Gly172Cys) | |
| 8 | g.76983665C>G | CA371557182 | PEX2 | c.514G>C (p.Gly172Arg) | |
| 8 | g.76983665C>T | CA371557183 | PEX2 | c.514G>A (p.Gly172Ser) | |
| 8 | g.76983666T>A | CA461773449 | PEX2 | c.513A>T (p.Leu171=) | |
| 8 | g.76983666T>C | CA461773450 | PEX2 | c.513A>G (p.Leu171=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.76983666T>G | CA461773451 | PEX2 | c.513A>C (p.Leu171=) | |
| 8 | g.76983667A>C | CA371557184 | PEX2 | c.512T>G (p.Leu171Arg) | |
| 8 | g.76983667A>G | CA371557186 | PEX2 | c.512T>C (p.Leu171Pro) | |
| 8 | g.76983667A>T | CA371557185 | PEX2 | c.512T>A (p.Leu171Gln) | |
| 8 | g.76983668G>A | CA461773453 | PEX2 | c.511C>T (p.Leu171=) | ClinVar gnomAD v4 |
| 8 | g.76983668G>C | CA371557187 | PEX2 | c.511C>G (p.Leu171Val) | |
| 8 | g.76983668G>T | CA371557188 | PEX2 | c.511C>A (p.Leu171Ile) | |
| 8 | g.76983669G>A | CA461773456 | PEX2 | c.510C>T (p.Leu170=) | gnomAD v4 |
| 8 | g.76983669G>C | CA461773455 | PEX2 | c.510C>G (p.Leu170=) | |
| 8 | g.76983669G>T | CA461773454 | PEX2 | c.510C>A (p.Leu170=) | |
| 8 | g.76983670A>C | CA371557189 | PEX2 | c.509T>G (p.Leu170Arg) | |
| 8 | g.76983670A>G | CA371557190 | PEX2 | c.509T>C (p.Leu170Pro) | |
| 8 | g.76983670A>T | CA371557191 | PEX2 | c.509T>A (p.Leu170His) | |
| 8 | g.76983671G>A | CA371557192 | PEX2 | c.508C>T (p.Leu170Phe) | |
| 8 | g.76983671G>C | CA371557193 | PEX2 | c.508C>G (p.Leu170Val) | |
| 8 | g.76983671G>T | CA371557194 | PEX2 | c.508C>A (p.Leu170Ile) | gnomAD v4 |
| 8 | g.76983672A>C | CA461773462 | PEX2 | c.507T>G (p.Arg169=) | |
| 8 | g.76983672A>G | CA461773460 | PEX2 | c.507T>C (p.Arg169=) | |
| 8 | g.76983672A>T | CA461773459 | PEX2 | c.507T>A (p.Arg169=) | ClinVar |
| 8 | g.76983673C>A | CA371557195 | PEX2 | c.506G>T (p.Arg169Leu) | ClinVar dbSNP |
| 8 | g.76983673C= | CA1795351372 | PEX2 | c.506G= (p.Arg169=) | |
| 8 | g.76983673C>G | CA371557196 | PEX2 | c.506G>C (p.Arg169Pro) | |
| 8 | g.76983673C>T | CA4788694 | PEX2 | c.506G>A (p.Arg169His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.76983674G>A | CA4788695 | PEX2 | c.505C>T (p.Arg169Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.76983674G>C | CA371557197 | PEX2 | c.505C>G (p.Arg169Gly) | ClinVar dbSNP gnomAD v4 |
| 8 | g.76983674G= | CA1795351380 | PEX2 | c.505C= (p.Arg169=) | |
| 8 | g.76983674G>T | CA371557198 | PEX2 | c.505C>A (p.Arg169Ser) | dbSNP gnomAD v4 |
| 8 | g.76983675T>A | CA371557199 | PEX2 | c.504A>T (p.Glu168Asp) | |
| 8 | g.76983675T>C | CA461773467 | PEX2 | c.504A>G (p.Glu168=) | |
| 8 | g.76983675T>G | CA371557200 | PEX2 | c.504A>C (p.Glu168Asp) | |
| 8 | g.76983675_76983677delinsTTC | CA1795351385 | PEX2 | c.502_504delinsGAA (p.Glu168=) | |
| 8 | g.76983676_76983678del | CA913141893 | PEX2 | c.502_504del (p.Glu168del) | |
| 8 | g.76983676T>A | CA371557201 | PEX2 | c.503A>T (p.Glu168Val) | |
| 8 | g.76983676T>C | CA371557202 | PEX2 | c.503A>G (p.Glu168Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983676T>G | CA371557203 | PEX2 | c.503A>C (p.Glu168Ala) | |
| 8 | g.76983676T= | CA1795351390 | PEX2 | c.503A= (p.Glu168=) | |
| 8 | g.76983677_76983678del | CA658821644 | PEX2 | c.502_503del (p.Glu168ThrfsTer17) c.502_503del (p.Glu168ThrfsTer?) | ClinVar dbSNP |
| 8 | g.76983677C>A | CA371557204 | PEX2 | c.502G>T (p.Glu168Ter) | ClinVar COSMIC |
| 8 | g.76983677C>G | CA371557205 | PEX2 | c.502G>C (p.Glu168Gln) | |
| 8 | g.76983677C>T | CA371557206 | PEX2 | c.502G>A (p.Glu168Lys) | |
| 8 | g.76983678T>A | CA461773469 | PEX2 | c.501A>T (p.Thr167=) | |
| 8 | g.76983678T>C | CA461773470 | PEX2 | c.501A>G (p.Thr167=) | |
| 8 | g.76983678T>G | CA461773471 | PEX2 | c.501A>C (p.Thr167=) | |
| 8 | g.76983679G>A | CA179988267 | PEX2 | c.500C>T (p.Thr167Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983679G>C | CA371557207 | PEX2 | c.500C>G (p.Thr167Arg) | ClinVar dbSNP |
| 8 | g.76983679G= | CA1795351398 | PEX2 | c.500C= (p.Thr167=) | |
| 8 | g.76983679G>T | CA371557208 | PEX2 | c.500C>A (p.Thr167Lys) | |
| 8 | g.76983680T>A | CA371557210 | PEX2 | c.499A>T (p.Thr167Ser) | |
| 8 | g.76983680T>C | CA371557211 | PEX2 | c.499A>G (p.Thr167Ala) | gnomAD v4 |
| 8 | g.76983680T>G | CA371557209 | PEX2 | c.499A>C (p.Thr167Pro) | |
| 8 | g.76983681C>A | CA371557213 | PEX2 | c.498G>T (p.Leu166Phe) | |
| 8 | g.76983681C>G | CA371557212 | PEX2 | c.498G>C (p.Leu166Phe) | |
| 8 | g.76983681C>T | CA461773476 | PEX2 | c.498G>A (p.Leu166=) | gnomAD v4 |
| 8 | g.76983681_76983683delinsCAA | CA1795351401 | PEX2 | c.496_498delinsTTG (p.Leu166=) | |
| 8 | g.76983682A= | CA1795351407 | PEX2 | c.497T= (p.Leu166=) | |
| 8 | g.76983682A>C | CA371557214 | PEX2 | c.497T>G (p.Leu166Trp) | ClinVar dbSNP gnomAD v4 |
| 8 | g.76983682A>G | CA371557215 | PEX2 | c.497T>C (p.Leu166Ser) | |
| 8 | g.76983682A>T | CA371557216 | PEX2 | c.497T>A (p.Leu166Ter) | ClinVar dbSNP |
| 8 | g.76983684dup | CA4788696 | PEX2 | c.497dup (p.Leu166PhefsTer20) c.497dup (p.Leu166PhefsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983683_76983684del | CA855436777 | PEX2 | c.496_497del (p.Leu166AspfsTer19) c.496_497del (p.Leu166AspfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983683A>C | CA371557217 | PEX2 | c.496T>G (p.Leu166Val) | gnomAD v4 |
| 8 | g.76983683A>G | CA461773479 | PEX2 | c.496T>C (p.Leu166=) | |
| 8 | g.76983683A>T | CA371557218 | PEX2 | c.496T>A (p.Leu166Met) | |
| 8 | g.76983684A>C | CA461773480 | PEX2 | c.495T>G (p.Thr165=) | |
| 8 | g.76983684A>G | CA461773482 | PEX2 | c.495T>C (p.Thr165=) | ClinVar |
| 8 | g.76983684A>T | CA461773484 | PEX2 | c.495T>A (p.Thr165=) | ClinVar |
| 8 | g.76983685G>A | CA371557219 | PEX2 | c.494C>T (p.Thr165Ile) | COSMIC |
| 8 | g.76983685G>C | CA371557220 | PEX2 | c.494C>G (p.Thr165Ser) | |
| 8 | g.76983685G>T | CA371557221 | PEX2 | c.494C>A (p.Thr165Asn) | ClinVar |
| 8 | g.76983686T>A | CA371557222 | PEX2 | c.493A>T (p.Thr165Ser) | |
| 8 | g.76983686T>C | CA4788697 | PEX2 | c.493A>G (p.Thr165Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983686T>G | CA371557223 | PEX2 | c.493A>C (p.Thr165Pro) | |
| 8 | g.76983686T= | CA1795351413 | PEX2 | c.493A= (p.Thr165=) | |
| 8 | g.76983687T>A | CA461773486 | PEX2 | c.492A>T (p.Ala164=) | |
| 8 | g.76983687T>C | CA461773487 | PEX2 | c.492A>G (p.Ala164=) | |
| 8 | g.76983687T>G | CA461773488 | PEX2 | c.492A>C (p.Ala164=) | gnomAD v4 |
| 8 | g.76983688G>A | CA371557226 | PEX2 | c.491C>T (p.Ala164Val) | |
| 8 | g.76983688G>C | CA371557224 | PEX2 | c.491C>G (p.Ala164Gly) | |
| 8 | g.76983688G>T | CA371557225 | PEX2 | c.491C>A (p.Ala164Glu) | |
| 8 | g.76983689C>A | CA371557227 | PEX2 | c.490G>T (p.Ala164Ser) | |
| 8 | g.76983689C= | CA1795351419 | PEX2 | c.490G= (p.Ala164=) | |
| 8 | g.76983689C>G | CA371557228 | PEX2 | c.490G>C (p.Ala164Pro) | dbSNP |
| 8 | g.76983689C>T | CA371557229 | PEX2 | c.490G>A (p.Ala164Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983689_76983690delinsCA | CA1795351416 | PEX2 | c.489_490delinsTG (p.Phe163=) | |
| 8 | g.76983690A= | CA1795351423 | PEX2 | c.489T= (p.Phe163=) | |
| 8 | g.76983690A>C | CA371557230 | PEX2 | c.489T>G (p.Phe163Leu) | |
| 8 | g.76983690A>G | CA461773493 | PEX2 | c.489T>C (p.Phe163=) | ClinVar dbSNP |
| 8 | g.76983690A>T | CA371557231 | PEX2 | c.489T>A (p.Phe163Leu) | |
| 8 | g.76983692del | CA4788698 | PEX2 | c.489del (p.Phe163LeufsTer4) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983691A= | CA1795351425 | PEX2 | c.488T= (p.Phe163=) | |
| 8 | g.76983691A>C | CA4788699 | PEX2 | c.488T>G (p.Phe163Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983691A>G | CA371557232 | PEX2 | c.488T>C (p.Phe163Ser) | |
| 8 | g.76983691A>T | CA371557233 | PEX2 | c.488T>A (p.Phe163Tyr) | |
| 8 | g.76983692A>C | CA371557234 | PEX2 | c.487T>G (p.Phe163Val) | |
| 8 | g.76983692A>G | CA371557235 | PEX2 | c.487T>C (p.Phe163Leu) | |
| 8 | g.76983692A>T | CA371557236 | PEX2 | c.487T>A (p.Phe163Ile) | |
| 8 | g.76983693C>A | CA371557238 | PEX2 | c.486G>T (p.Lys162Asn) | |
| 8 | g.76983693C>G | CA371557237 | PEX2 | c.486G>C (p.Lys162Asn) | |
| 8 | g.76983693C>T | CA461773497 | PEX2 | c.486G>A (p.Lys162=) | dbSNP gnomAD v4 |
| 8 | g.76983694T>A | CA371557239 | PEX2 | c.485A>T (p.Lys162Met) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.76983694T>C | CA371557240 | PEX2 | c.485A>G (p.Lys162Arg) | |
| 8 | g.76983694T>G | CA371557241 | PEX2 | c.485A>C (p.Lys162Thr) | dbSNP gnomAD v4 |
| 8 | g.76983694T= | CA1795351428 | PEX2 | c.485A= (p.Lys162=) | |
| 8 | g.76983694_76983704del | CA2687718868 | PEX2 | c.475_485del (p.Gln159ValfsTer23) c.475_485del (p.Gln159ValfsTer?) | gnomAD v4 |
| 8 | g.76983695T>A | CA371557242 | PEX2 | c.484A>T (p.Lys162Ter) | |
| 8 | g.76983695T>C | CA371557243 | PEX2 | c.484A>G (p.Lys162Glu) | |
| 8 | g.76983695T>G | CA371557244 | PEX2 | c.484A>C (p.Lys162Gln) | |
| 8 | g.76983696T>A | CA461773500 | PEX2 | c.483A>T (p.Gly161=) | |
| 8 | g.76983696T>C | CA461773501 | PEX2 | c.483A>G (p.Gly161=) | ClinVar dbSNP |
| 8 | g.76983696T>G | CA461773503 | PEX2 | c.483A>C (p.Gly161=) | |
| 8 | g.76983696_76983697delinsTC | CA1795351433 | PEX2 | c.482_483delinsGA (p.Gly161=) | |
| 8 | g.76983697C>A | CA371557246 | PEX2 | c.482G>T (p.Gly161Val) | |
| 8 | g.76983697C= | CA1795351436 | PEX2 | c.482G= (p.Gly161=) | |
| 8 | g.76983697C>G | CA371557245 | PEX2 | c.482G>C (p.Gly161Ala) | |
| 8 | g.76983697C>T | CA179988269 | PEX2 | c.482G>A (p.Gly161Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983700del | CA179988268 | PEX2 | c.482del (p.Gly161GlufsTer6) | dbSNP gnomAD v4 |
| 8 | g.76983698C>A | CA371557247 | PEX2 | c.481G>T (p.Gly161Ter) | |
| 8 | g.76983698C= | CA1795351438 | PEX2 | c.481G= (p.Gly161=) | |
| 8 | g.76983698C>G | CA371557248 | PEX2 | c.481G>C (p.Gly161Arg) | |
| 8 | g.76983698C>T | CA4788700 | PEX2 | c.481G>A (p.Gly161Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983699C>A | CA371557249 | PEX2 | c.480G>T (p.Arg160Ser) | |
| 8 | g.76983699C>G | CA371557250 | PEX2 | c.480G>C (p.Arg160Ser) | |
| 8 | g.76983699C>T | CA461773509 | PEX2 | c.480G>A (p.Arg160=) | gnomAD v4 |
| 8 | g.76983700C>A | CA4788701 | PEX2 | c.479G>T (p.Arg160Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983700C= | CA1795351441 | PEX2 | c.479G= (p.Arg160=) | |
| 8 | g.76983700C>G | CA371557252 | PEX2 | c.479G>C (p.Arg160Thr) | |
| 8 | g.76983700C>T | CA371557251 | PEX2 | c.479G>A (p.Arg160Lys) | ClinVar |
| 8 | g.76983701T>A | CA371557253 | PEX2 | c.478A>T (p.Arg160Trp) | |
| 8 | g.76983701T>C | CA371557254 | PEX2 | c.478A>G (p.Arg160Gly) | |
| 8 | g.76983701T>G | CA461773514 | PEX2 | c.478A>C (p.Arg160=) | |
| 8 | g.76983702C>A | CA371557255 | PEX2 | c.477G>T (p.Gln159His) | |
| 8 | g.76983702C= | CA1795351444 | PEX2 | c.477G= (p.Gln159=) | |
| 8 | g.76983702C>G | CA371557256 | PEX2 | c.477G>C (p.Gln159His) | gnomAD v4 |
| 8 | g.76983702C>T | CA4788702 | PEX2 | c.477G>A (p.Gln159=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983703T>A | CA371557257 | PEX2 | c.476A>T (p.Gln159Leu) | |
| 8 | g.76983703T>C | CA371557258 | PEX2 | c.476A>G (p.Gln159Arg) | |
| 8 | g.76983703T>G | CA371557259 | PEX2 | c.476A>C (p.Gln159Pro) | |
| 8 | g.76983704G>A | CA371557260 | PEX2 | c.475C>T (p.Gln159Ter) | ClinVar |
| 8 | g.76983704G>C | CA371557261 | PEX2 | c.475C>G (p.Gln159Glu) | |
| 8 | g.76983704G>T | CA371557262 | PEX2 | c.475C>A (p.Gln159Lys) | |
| 8 | g.76983705A= | CA1795351449 | PEX2 | c.474T= (p.Leu158=) | |
| 8 | g.76983705A>C | CA461773522 | PEX2 | c.474T>G (p.Leu158=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.76983705A>G | CA461773518 | PEX2 | c.474T>C (p.Leu158=) | |
| 8 | g.76983705A>T | CA461773520 | PEX2 | c.474T>A (p.Leu158=) | |
| 8 | g.76983706A>C | CA371557265 | PEX2 | c.473T>G (p.Leu158Arg) | |
| 8 | g.76983706A>G | CA371557264 | PEX2 | c.473T>C (p.Leu158Pro) | |
| 8 | g.76983706A>T | CA371557263 | PEX2 | c.473T>A (p.Leu158His) | |
| 8 | g.76983706_76983707del | CA913141894 | PEX2 | c.472_473del (p.Leu158SerfsTer27) c.472_473del (p.Leu158SerfsTer?) | |
| 8 | g.76983706_76983707delinsAG | CA1795351450 | PEX2 | c.472_473delinsCT (p.Leu158=) | |
| 8 | g.76983707G>A | CA371557266 | PEX2 | c.472C>T (p.Leu158Phe) | gnomAD v4 COSMIC |
| 8 | g.76983707G>C | CA371557268 | PEX2 | c.472C>G (p.Leu158Val) | |
| 8 | g.76983707G>T | CA371557267 | PEX2 | c.472C>A (p.Leu158Ile) | COSMIC |
| 8 | g.76983708del | CA658821645 | PEX2 | c.472del (p.Leu158PhefsTer9) | ClinVar dbSNP |
| 8 | g.76983708G>A | CA461773527 | PEX2 | c.471C>T (p.Phe157=) | gnomAD v4 COSMIC |
| 8 | g.76983708G>C | CA371557269 | PEX2 | c.471C>G (p.Phe157Leu) | |
| 8 | g.76983708G>T | CA371557270 | PEX2 | c.471C>A (p.Phe157Leu) | |
| 8 | g.76983709A>C | CA371557271 | PEX2 | c.470T>G (p.Phe157Cys) | gnomAD v4 |
| 8 | g.76983709A>G | CA371557272 | PEX2 | c.470T>C (p.Phe157Ser) | |
| 8 | g.76983709A>T | CA371557273 | PEX2 | c.470T>A (p.Phe157Tyr) | |
| 8 | g.76983712del | CA2739268832 | PEX2 | c.470del (p.Phe157SerfsTer10) | ClinVar |
| 8 | g.76983710A= | CA1795351458 | PEX2 | c.469T= (p.Phe157=) | |
| 8 | g.76983710A>C | CA371557274 | PEX2 | c.469T>G (p.Phe157Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983710A>G | CA371557275 | PEX2 | c.469T>C (p.Phe157Leu) | |
| 8 | g.76983710A>T | CA371557276 | PEX2 | c.469T>A (p.Phe157Ile) | gnomAD v4 |
| 8 | g.76983711A>C | CA371557277 | PEX2 | c.468T>G (p.Ile156Met) | |
| 8 | g.76983711A>G | CA461773533 | PEX2 | c.468T>C (p.Ile156=) | |
| 8 | g.76983711A>T | CA461773537 | PEX2 | c.468T>A (p.Ile156=) | |
| 8 | g.76983712A= | CA1795351461 | PEX2 | c.467T= (p.Ile156=) | |
| 8 | g.76983712A>C | CA371557278 | PEX2 | c.467T>G (p.Ile156Ser) | |
| 8 | g.76983712A>G | CA371557279 | PEX2 | c.467T>C (p.Ile156Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983712A>T | CA371557280 | PEX2 | c.467T>A (p.Ile156Asn) | |
| 8 | g.76983713T>A | CA371557282 | PEX2 | c.466A>T (p.Ile156Phe) | |
| 8 | g.76983713T>C | CA4788703 | PEX2 | c.466A>G (p.Ile156Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983713T>G | CA371557281 | PEX2 | c.466A>C (p.Ile156Leu) | |
| 8 | g.76983713T= | CA1795351464 | PEX2 | c.466A= (p.Ile156=) | |
| 8 | g.76983714C>A | CA371557283 | PEX2 | c.465G>T (p.Leu155Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983714C= | CA1795351468 | PEX2 | c.465G= (p.Leu155=) | |
| 8 | g.76983714C>G | CA371557284 | PEX2 | c.465G>C (p.Leu155Phe) | |
| 8 | g.76983714C>T | CA461773545 | PEX2 | c.465G>A (p.Leu155=) | ClinVar |
| 8 | g.76983715A>C | CA371557285 | PEX2 | c.464T>G (p.Leu155Trp) | |
| 8 | g.76983715A>G | CA371557286 | PEX2 | c.464T>C (p.Leu155Ser) | |
| 8 | g.76983715A>T | CA371557287 | PEX2 | c.464T>A (p.Leu155Ter) | |
| 8 | g.76983720dup | CA1795351473 | PEX2 | c.464dup (p.Leu155PhefsTer31) c.464dup (p.Leu155PhefsTer?) | |
| 8 | g.76983720del | CA2687718869 | PEX2 | c.464del (p.Leu155Ter) | gnomAD v4 |
| 8 | g.76983716A>C | CA371557288 | PEX2 | c.463T>G (p.Leu155Val) | |
| 8 | g.76983716A>G | CA461773550 | PEX2 | c.463T>C (p.Leu155=) | |
| 8 | g.76983716A>T | CA371557289 | PEX2 | c.463T>A (p.Leu155Met) | |
| 8 | g.76983717A>C | CA371557290 | PEX2 | c.462T>G (p.Phe154Leu) | |
| 8 | g.76983717A>G | CA461773553 | PEX2 | c.462T>C (p.Phe154=) | |
| 8 | g.76983717A>T | CA371557291 | PEX2 | c.462T>A (p.Phe154Leu) | |
| 8 | g.76983718A= | CA1795351475 | PEX2 | c.461T= (p.Phe154=) | |
| 8 | g.76983718A>C | CA4788704 | PEX2 | c.461T>G (p.Phe154Cys) | dbSNP ExAC gnomAD v2 |
| 8 | g.76983718A>G | CA4788705 | PEX2 | c.461T>C (p.Phe154Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983718A>T | CA371557292 | PEX2 | c.461T>A (p.Phe154Tyr) | |
| 8 | g.76983718_76983722delinsAAATT | CA1795351477 | PEX2 | c.457_461delinsAATTT (p.Asn153=) | |
| 8 | g.76983719A= | CA1795351484 | PEX2 | c.460T= (p.Phe154=) | |
| 8 | g.76983719A>C | CA371557294 | PEX2 | c.460T>G (p.Phe154Val) | |
| 8 | g.76983719A>G | CA4788706 | PEX2 | c.460T>C (p.Phe154Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983719A>T | CA371557293 | PEX2 | c.460T>A (p.Phe154Ile) | |
| 8 | g.76983722_76983725del | CA583367324 | PEX2 | c.457_460del (p.Asn153PhefsTer2) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.76983720A>C | CA371557296 | PEX2 | c.459T>G (p.Asn153Lys) | |
| 8 | g.76983720A>G | CA461773562 | PEX2 | c.459T>C (p.Asn153=) | |
| 8 | g.76983720A>T | CA371557295 | PEX2 | c.459T>A (p.Asn153Lys) | |
| 8 | g.76983721T>A | CA371557297 | PEX2 | c.458A>T (p.Asn153Ile) | |
| 8 | g.76983721T>C | CA371557298 | PEX2 | c.458A>G (p.Asn153Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.76983721T>G | CA371557299 | PEX2 | c.458A>C (p.Asn153Thr) | |
| 8 | g.76983721T= | CA1795351490 | PEX2 | c.458A= (p.Asn153=) | |
| 8 | g.76983722T>A | CA371557300 | PEX2 | c.457A>T (p.Asn153Tyr) | |
| 8 | g.76983722T>C | CA371557301 | PEX2 | c.457A>G (p.Asn153Asp) | gnomAD v4 |
| 8 | g.76983722T>G | CA4788707 | PEX2 | c.457A>C (p.Asn153His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983722T= | CA1795351493 | PEX2 | c.457A= (p.Asn153=) | |
| 8 | g.76983723A= | CA1795351499 | PEX2 | c.456T= (p.Ile152=) | |
| 8 | g.76983723A>C | CA371557302 | PEX2 | c.456T>G (p.Ile152Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.76983723A>G | CA461773571 | PEX2 | c.456T>C (p.Ile152=) | |
| 8 | g.76983723A>T | CA461773574 | PEX2 | c.456T>A (p.Ile152=) | |
| 8 | g.76983723_76983724insC | CA2573143380 | PEX2 | c.455_456insG (p.Ile152MetfsTer2) | ClinVar dbSNP |
| 8 | g.76983724A>C | CA371557303 | PEX2 | c.455T>G (p.Ile152Ser) | |
| 8 | g.76983724A>G | CA371557304 | PEX2 | c.455T>C (p.Ile152Thr) | |
| 8 | g.76983724A>T | CA371557305 | PEX2 | c.455T>A (p.Ile152Asn) | |
| 8 | g.76983725T>A | CA371557306 | PEX2 | c.454A>T (p.Ile152Phe) | |
| 8 | g.76983725T>C | CA371557307 | PEX2 | c.454A>G (p.Ile152Val) | gnomAD v4 |
| 8 | g.76983725T>G | CA371557308 | PEX2 | c.454A>C (p.Ile152Leu) |