ClinVar Miner

List of variants in gene PEX26 studied for brain disorder

Included ClinVar conditions (1834):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 516
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HGVS dbSNP gnomAD frequency
NM_001127649.3(PEX26):c.*2281T>C rs362209 0.99208
NM_001127649.3(PEX26):c.*2051A>G rs361946 0.88398
NM_001127649.3(PEX26):c.*987T>C rs361807 0.88380
NM_001127649.3(PEX26):c.*1265T>A rs456551 0.52154
NM_001127649.3(PEX26):c.*167G>A rs464385 0.52045
NM_001127649.3(PEX26):c.*1590G>A rs5992169 0.10823
NM_001127649.3(PEX26):c.*1669C>G rs112015789 0.10796
NM_001127649.3(PEX26):c.*917C>T rs9605518 0.10773
NM_001127649.3(PEX26):c.*1635G>C rs361703 0.09478
NM_001127649.3(PEX26):c.*1623G>T rs114698763 0.06369
NM_001127649.3(PEX26):c.*754A>G rs114146293 0.03730
NM_001127649.3(PEX26):c.*2878C>T rs116424707 0.02655
NM_001127649.3(PEX26):c.*1608G>A rs116824049 0.02602
NM_001127649.3(PEX26):c.*1003T>G rs79085553 0.02437
NM_001127649.3(PEX26):c.*2701G>C rs114075265 0.02360
NM_001127649.3(PEX26):c.*1627G>T rs1056492732 0.01991
NM_001127649.3(PEX26):c.*400C>T rs74988725 0.01840
NM_001127649.3(PEX26):c.*692T>C rs79936154 0.01840
NM_001127649.3(PEX26):c.*943G>A rs79785382 0.01835
NM_001127649.3(PEX26):c.-363G>C rs138787474 0.01598
NM_017929.5(PEX26):c.-148C>T rs115617644 0.01576
NM_001127649.3(PEX26):c.*464A>G rs141229564 0.01278
NM_001127649.3(PEX26):c.*10C>T rs117472525 0.01244
NM_001127649.3(PEX26):c.457C>G (p.Leu153Val) rs12484657 0.01096
NM_001127649.3(PEX26):c.*1778C>T rs79447039 0.01095
NM_001127649.3(PEX26):c.*1957G>A rs11913772 0.01094
NM_001127649.3(PEX26):c.*2162G>A rs45489191 0.00688
NM_001127649.3(PEX26):c.130C>T (p.Leu44Phe) rs150895887 0.00683
NM_001127649.3(PEX26):c.*2311G>T rs74714634 0.00524
NM_001127649.3(PEX26):c.*925A>G rs115277831 0.00523
NM_001127649.3(PEX26):c.815-13C>T rs139370593 0.00381
NM_001127649.3(PEX26):c.*954T>C rs188986907 0.00307
NM_001127649.3(PEX26):c.*828C>T rs551641353 0.00287
NM_001127649.3(PEX26):c.*279G>A rs147096782 0.00208
NM_001127649.3(PEX26):c.325T>C (p.Tyr109His) rs45567240 0.00190
NM_001127649.3(PEX26):c.200A>G (p.Asn67Ser) rs201884779 0.00179
NM_001127649.3(PEX26):c.409G>C (p.Val137Leu) rs142648687 0.00179
NM_001127649.3(PEX26):c.*1156T>C rs565644082 0.00171
NM_001127649.3(PEX26):c.*1194G>A rs118188952 0.00171
NM_001127649.3(PEX26):c.*1720G>A rs749348676 0.00134
NM_001127649.3(PEX26):c.911G>A (p.Arg304His) rs17851387 0.00121
NM_001127649.3(PEX26):c.*113G>A rs199653646 0.00101
NM_001127649.3(PEX26):c.*133C>T rs200243782 0.00099
NM_001127649.3(PEX26):c.497G>A (p.Arg166Gln) rs34194489 0.00098
NM_001127649.3(PEX26):c.*439C>G rs148217514 0.00096
NM_001127649.3(PEX26):c.728C>T (p.Ala243Val) rs149153003 0.00083
NM_001127649.3(PEX26):c.*1922C>T rs181819830 0.00078
NM_001127649.3(PEX26):c.*2195A>G rs565621911 0.00074
NM_001127649.3(PEX26):c.643G>A (p.Glu215Lys) rs138232280 0.00063
NM_001127649.3(PEX26):c.*2449C>T rs140919342 0.00058
NM_001127649.3(PEX26):c.*2807_*2808del rs754613851 0.00046
NM_001127649.3(PEX26):c.*2810G>C rs781588186 0.00046
NM_001127649.3(PEX26):c.667+8A>G rs200880379 0.00046
NM_001127649.3(PEX26):c.*1509C>G rs571401889 0.00039
NM_001127649.3(PEX26):c.895dup (p.Tyr299fs) rs759821636 0.00036
NM_001127649.3(PEX26):c.*2386C>G rs148534099 0.00032
NM_001127649.3(PEX26):c.*578A>G rs150745941 0.00031
NM_001127649.3(PEX26):c.*977C>T rs181706274 0.00029
NM_001127649.3(PEX26):c.*114C>T rs45500699 0.00028
NM_001127649.3(PEX26):c.*2339G>A rs772852627 0.00027
NM_001127649.3(PEX26):c.318C>G (p.Val106=) rs142072315 0.00027
NM_001127649.3(PEX26):c.198C>T (p.Ala66=) rs374290931 0.00026
NM_001127649.3(PEX26):c.207C>T (p.Ala69=) rs375516973 0.00026
NM_001127649.3(PEX26):c.*280G>A rs188897908 0.00021
NM_001127649.3(PEX26):c.716T>C (p.Leu239Pro) rs757411841 0.00018
NM_001127649.3(PEX26):c.*1152G>C rs886057252 0.00016
NM_001127649.3(PEX26):c.-381C>T rs561094254 0.00016
NM_001127649.3(PEX26):c.*36G>A rs202010734 0.00015
NM_001127649.3(PEX26):c.882A>G (p.Ala294=) rs751507771 0.00015
NM_001127649.3(PEX26):c.*1684T>C rs886057255 0.00013
NM_001127649.3(PEX26):c.501G>A (p.Val167=) rs201666490 0.00013
NM_001127649.3(PEX26):c.*2308A>T rs775281083 0.00012
NM_001127649.3(PEX26):c.668-5G>T rs767742108 0.00012
NM_001127649.3(PEX26):c.571C>T (p.Arg191Trp) rs150451390 0.00011
NM_001127649.3(PEX26):c.98C>T (p.Pro33Leu) rs368118099 0.00010
NM_001127649.3(PEX26):c.33C>G (p.Pro11=) rs199668827 0.00009
NM_001127649.3(PEX26):c.886T>C (p.Ser296Pro) rs143243841 0.00009
NM_001127649.3(PEX26):c.292C>T (p.Arg98Trp) rs62641228 0.00008
NM_001127649.3(PEX26):c.635G>T (p.Gly212Val) rs769550692 0.00008
NM_001127649.3(PEX26):c.*122A>C rs753279674 0.00006
NM_001127649.3(PEX26):c.*2479G>A rs537299090 0.00006
NM_001127649.3(PEX26):c.*566T>C rs541332240 0.00006
NM_001127649.3(PEX26):c.239A>T (p.Glu80Val) rs748579402 0.00006
NM_001127649.3(PEX26):c.29C>T (p.Ala10Val) rs768425084 0.00006
NM_001127649.3(PEX26):c.441C>T (p.Asp147=) rs770611373 0.00006
NM_001127649.3(PEX26):c.496C>T (p.Arg166Trp) rs369695924 0.00006
NM_001127649.3(PEX26):c.904C>T (p.Arg302Cys) rs539155271 0.00006
NM_001127649.3(PEX26):c.*1618G>C rs1358815707 0.00005
NM_001127649.3(PEX26):c.*1171G>A rs184116244 0.00004
NM_001127649.3(PEX26):c.*2369C>G rs971100485 0.00004
NM_001127649.3(PEX26):c.*912C>T rs79240512 0.00004
NM_001127649.3(PEX26):c.32C>T (p.Pro11Leu) rs200279475 0.00004
NM_001127649.3(PEX26):c.433C>A (p.Leu145Ile) rs774434641 0.00004
NM_001127649.3(PEX26):c.50G>A (p.Gly17Glu) rs757324021 0.00004
NM_001127649.3(PEX26):c.548G>A (p.Gly183Asp) rs146904462 0.00004
NM_001127649.3(PEX26):c.572G>A (p.Arg191Gln) rs750749018 0.00004
NM_001127649.3(PEX26):c.668-18C>T rs771685854 0.00004
NM_001127649.3(PEX26):c.764G>A (p.Ser255Asn) rs770645243 0.00004
NM_001127649.3(PEX26):c.786C>G (p.Leu262=) rs759864013 0.00004
NM_001127649.3(PEX26):c.851C>T (p.Ala284Val) rs200004274 0.00004
NM_001127649.3(PEX26):c.*2155A>G rs773334209 0.00003
NM_001127649.3(PEX26):c.*662C>T rs1197932567 0.00003
NM_001127649.3(PEX26):c.710G>A (p.Arg237His) rs370821533 0.00003
NM_001127649.3(PEX26):c.725C>T (p.Ser242Phe) rs779828574 0.00003
NM_001127649.3(PEX26):c.804A>G (p.Arg268=) rs1055672932 0.00003
NM_017929.5(PEX26):c.-203G>A rs544836312 0.00003
NM_001127649.3(PEX26):c.*1631G>T rs886057254 0.00002
NM_001127649.3(PEX26):c.*2651C>T rs963146393 0.00002
NM_001127649.3(PEX26):c.*2768C>T rs886057260 0.00002
NM_001127649.3(PEX26):c.*812C>T rs886057250 0.00002
NM_001127649.3(PEX26):c.120G>C (p.Glu40Asp) rs1010208134 0.00002
NM_001127649.3(PEX26):c.142C>T (p.His48Tyr) rs747831264 0.00002
NM_001127649.3(PEX26):c.153C>A (p.Phe51Leu) rs777633990 0.00002
NM_001127649.3(PEX26):c.208G>T (p.Val70Leu) rs766581207 0.00002
NM_001127649.3(PEX26):c.230+3A>G rs757200331 0.00002
NM_001127649.3(PEX26):c.231-19T>C rs371362038 0.00002
NM_001127649.3(PEX26):c.381A>G (p.Leu127=) rs781745366 0.00002
NM_001127649.3(PEX26):c.427G>A (p.Ala143Thr) rs768857476 0.00002
NM_001127649.3(PEX26):c.461C>T (p.Pro154Leu) rs998546145 0.00002
NM_001127649.3(PEX26):c.524C>T (p.Ser175Leu) rs748291426 0.00002
NM_001127649.3(PEX26):c.52C>T (p.Pro18Ser) rs924635830 0.00002
NM_001127649.3(PEX26):c.53C>T (p.Pro18Leu) rs1295117804 0.00002
NM_001127649.3(PEX26):c.547G>A (p.Gly183Ser) rs535045097 0.00002
NM_001127649.3(PEX26):c.558C>T (p.Ala186=) rs372621690 0.00002
NM_001127649.3(PEX26):c.653A>G (p.Lys218Arg) rs773676634 0.00002
NM_001127649.3(PEX26):c.709C>T (p.Arg237Cys) rs575612663 0.00002
NM_001127649.3(PEX26):c.862C>T (p.Arg288Cys) rs764957881 0.00002
NM_001127649.3(PEX26):c.863G>A (p.Arg288His) rs370622812 0.00002
NM_001127649.3(PEX26):c.871C>T (p.Arg291Trp) rs576481410 0.00002
NM_001127649.3(PEX26):c.877G>A (p.Ala293Thr) rs1045236480 0.00002
NM_001127649.3(PEX26):c.*1493C>G rs1926993500 0.00001
NM_001127649.3(PEX26):c.*1928A>C rs905337330 0.00001
NM_001127649.3(PEX26):c.*2285C>T rs886057257 0.00001
NM_001127649.3(PEX26):c.*2370T>A rs571008916 0.00001
NM_001127649.3(PEX26):c.*2604G>C rs983170194 0.00001
NM_001127649.3(PEX26):c.*2724G>C rs58564536 0.00001
NM_001127649.3(PEX26):c.105G>A (p.Val35=) rs1002922692 0.00001
NM_001127649.3(PEX26):c.145C>T (p.Leu49=) rs1308033481 0.00001
NM_001127649.3(PEX26):c.169A>G (p.Thr57Ala) rs769260247 0.00001
NM_001127649.3(PEX26):c.205G>A (p.Ala69Thr) rs372192286 0.00001
NM_001127649.3(PEX26):c.217G>C (p.Glu73Gln) rs758179855 0.00001
NM_001127649.3(PEX26):c.231-15T>G rs768299342 0.00001
NM_001127649.3(PEX26):c.243G>T (p.Val81=) rs772417180 0.00001
NM_001127649.3(PEX26):c.262G>T (p.Val88Leu) rs555951210 0.00001
NM_001127649.3(PEX26):c.281C>G (p.Ala94Gly) rs761216250 0.00001
NM_001127649.3(PEX26):c.30C>T (p.Ala10=) rs774393110 0.00001
NM_001127649.3(PEX26):c.310T>A (p.Ser104Thr) rs148629338 0.00001
NM_001127649.3(PEX26):c.312C>T (p.Ser104=) rs1926484707 0.00001
NM_001127649.3(PEX26):c.35T>A (p.Leu12His) rs1476091565 0.00001
NM_001127649.3(PEX26):c.371+8T>G rs778162874 0.00001
NM_001127649.3(PEX26):c.372-9G>T rs1926701070 0.00001
NM_001127649.3(PEX26):c.39G>A (p.Arg13=) rs753275056 0.00001
NM_001127649.3(PEX26):c.425G>A (p.Gly142Asp) rs1926704169 0.00001
NM_001127649.3(PEX26):c.489C>T (p.His163=) rs549426563 0.00001
NM_001127649.3(PEX26):c.48G>T (p.Gly16=) rs764244307 0.00001
NM_001127649.3(PEX26):c.490G>A (p.Val164Met) rs1161672696 0.00001
NM_001127649.3(PEX26):c.506T>C (p.Leu169Pro) rs768604587 0.00001
NM_001127649.3(PEX26):c.529G>A (p.Ala177Thr) rs1466173209 0.00001
NM_001127649.3(PEX26):c.540A>G (p.Leu180=) rs374381444 0.00001
NM_001127649.3(PEX26):c.554C>T (p.Ala185Val) rs370147115 0.00001
NM_001127649.3(PEX26):c.56T>C (p.Leu19Pro) rs1287277452 0.00001
NM_001127649.3(PEX26):c.574C>T (p.Arg192Ter) rs61752136 0.00001
NM_001127649.3(PEX26):c.587T>A (p.Leu196His) rs1926714377 0.00001
NM_001127649.3(PEX26):c.605C>T (p.Ala202Val) rs778822723 0.00001
NM_001127649.3(PEX26):c.627A>T (p.Glu209Asp) rs1344950383 0.00001
NM_001127649.3(PEX26):c.628C>T (p.His210Tyr) rs1199052809 0.00001
NM_001127649.3(PEX26):c.662T>G (p.Leu221Arg) rs767345970 0.00001
NM_001127649.3(PEX26):c.667+20C>T rs754430783 0.00001
NM_001127649.3(PEX26):c.667+2T>C rs267608191 0.00001
NM_001127649.3(PEX26):c.668-20T>C rs747670268 0.00001
NM_001127649.3(PEX26):c.669C>A (p.Gly223=) rs398124339 0.00001
NM_001127649.3(PEX26):c.673G>A (p.Val225Ile) rs368290011 0.00001
NM_001127649.3(PEX26):c.680A>T (p.His227Leu) rs776806184 0.00001
NM_001127649.3(PEX26):c.685T>C (p.Phe229Leu) rs1331262454 0.00001
NM_001127649.3(PEX26):c.698C>T (p.Pro233Leu) rs765734604 0.00001
NM_001127649.3(PEX26):c.71C>G (p.Pro24Arg) rs771847925 0.00001
NM_001127649.3(PEX26):c.742T>G (p.Phe248Val) rs1242355055 0.00001
NM_001127649.3(PEX26):c.758A>G (p.Lys253Arg) rs1442402838 0.00001
NM_001127649.3(PEX26):c.776C>T (p.Ala259Val) rs1438615858 0.00001
NM_001127649.3(PEX26):c.788G>C (p.Cys263Ser) rs770160225 0.00001
NM_001127649.3(PEX26):c.799G>A (p.Val267Met) rs1376246557 0.00001
NM_001127649.3(PEX26):c.79G>A (p.Ala27Thr) rs374630564 0.00001
NM_001127649.3(PEX26):c.815-10T>G rs794727805 0.00001
NM_001127649.3(PEX26):c.817T>G (p.Ser273Ala) rs745490062 0.00001
NM_001127649.3(PEX26):c.854A>G (p.Gln285Arg) rs767603690 0.00001
NM_001127649.3(PEX26):c.857T>C (p.Leu286Pro) rs750644243 0.00001
NM_001127649.3(PEX26):c.86C>A (p.Pro29Gln) rs1926394690 0.00001
NM_001127649.3(PEX26):c.889C>T (p.Arg297Cys) rs780701336 0.00001
NM_001127649.3(PEX26):c.890G>A (p.Arg297His) rs1290168962 0.00001
NM_001127649.3(PEX26):c.910C>T (p.Arg304Cys) rs772069004 0.00001
NM_001127649.3(PEX26):c.99G>A (p.Pro33=) rs1284941471 0.00001
NM_017929.5(PEX26):c.-167C>T rs886057244 0.00001
NC_000022.10:g.(?_18561143)_(18568044_?)del
NC_000022.10:g.(?_18562620)_(18562800_?)dup
NM_001127649.3(PEX26):c.*112C>T rs761715161
NM_001127649.3(PEX26):c.*1136G>A rs886057251
NM_001127649.3(PEX26):c.*1283C>T rs73876563
NM_001127649.3(PEX26):c.*1488T>C rs1926993079
NM_001127649.3(PEX26):c.*1532_*1535dup rs361782
NM_001127649.3(PEX26):c.*1623GTTT[7] rs375436648
NM_001127649.3(PEX26):c.*1639G>T rs12484897
NM_001127649.3(PEX26):c.*1661_*1662insACTC rs361571
NM_001127649.3(PEX26):c.*1740C>G rs139987168
NM_001127649.3(PEX26):c.*1859A>C rs146739242
NM_001127649.3(PEX26):c.*1957G>T rs11913772
NM_001127649.3(PEX26):c.*2070del rs886057256
NM_001127649.3(PEX26):c.*2282G>A rs183054849
NM_001127649.3(PEX26):c.*2452G>C rs886057258
NM_001127649.3(PEX26):c.*2523C>T rs752154886
NM_001127649.3(PEX26):c.*2647G>A rs886057259
NM_001127649.3(PEX26):c.*2703G>A rs186314626
NM_001127649.3(PEX26):c.*2799dup rs751296123
NM_001127649.3(PEX26):c.*2904T>C rs555003472
NM_001127649.3(PEX26):c.*533A>C rs886057247
NM_001127649.3(PEX26):c.*568G>A rs886057248
NM_001127649.3(PEX26):c.*609GA[3] rs886057249
NM_001127649.3(PEX26):c.*802A>G rs1046921426
NM_001127649.3(PEX26):c.*829A>G rs362057
NM_001127649.3(PEX26):c.*829A>T rs362057
NM_001127649.3(PEX26):c.*944C>A rs78412274
NM_001127649.3(PEX26):c.-375G>A rs752393777
NM_001127649.3(PEX26):c.-80C>T rs1926378615
NM_001127649.3(PEX26):c.102C>G (p.Ala34=)
NM_001127649.3(PEX26):c.103G>A (p.Val35Met)
NM_001127649.3(PEX26):c.107A>G (p.Asp36Gly)
NM_001127649.3(PEX26):c.109C>T (p.Leu37Phe) rs1926397048
NM_001127649.3(PEX26):c.111T>G (p.Leu37=)
NM_001127649.3(PEX26):c.112C>T (p.Leu38=)
NM_001127649.3(PEX26):c.119A>C (p.Glu40Ala) rs1158271855
NM_001127649.3(PEX26):c.119A>G (p.Glu40Gly)
NM_001127649.3(PEX26):c.121G>A (p.Ala41Thr)
NM_001127649.3(PEX26):c.122C>T (p.Ala41Val) rs1926398102
NM_001127649.3(PEX26):c.126C>T (p.Ala42=)
NM_001127649.3(PEX26):c.129C>T (p.Asp43=)
NM_001127649.3(PEX26):c.129CCT[1] (p.Leu45del) rs1926398431
NM_001127649.3(PEX26):c.132C>G (p.Leu44=) rs1926398903
NM_001127649.3(PEX26):c.133C>T (p.Leu45=)
NM_001127649.3(PEX26):c.134T>C (p.Leu45Pro) rs61752132
NM_001127649.3(PEX26):c.141G>C (p.Val47=)
NM_001127649.3(PEX26):c.145C>G (p.Leu49Val)
NM_001127649.3(PEX26):c.148G>C (p.Asp50His) rs1926400002
NM_001127649.3(PEX26):c.150C>T (p.Asp50=) rs1926400252
NM_001127649.3(PEX26):c.154del (p.Arg52fs)
NM_001127649.3(PEX26):c.155G>A (p.Arg52Gln) rs746924588
NM_001127649.3(PEX26):c.162G>T (p.Ala54=)
NM_001127649.3(PEX26):c.163C>T (p.Leu55=)
NM_001127649.3(PEX26):c.174C>G (p.Cys58Trp)
NM_001127649.3(PEX26):c.174C>T (p.Cys58=) rs2123644447
NM_001127649.3(PEX26):c.175G>A (p.Glu59Lys)
NM_001127649.3(PEX26):c.178_179delinsA (p.Ala61fs) rs1926403854
NM_001127649.3(PEX26):c.179G>A (p.Arg60Gln)
NM_001127649.3(PEX26):c.180G>A (p.Arg60=)
NM_001127649.3(PEX26):c.183C>T (p.Ala61=)
NM_001127649.3(PEX26):c.185G>A (p.Trp62Ter) rs1556586479
NM_001127649.3(PEX26):c.189G>A (p.Gln63=)
NM_001127649.3(PEX26):c.190_191del (p.Leu65fs)
NM_001127649.3(PEX26):c.192_216del (p.Ser64fs)
NM_001127649.3(PEX26):c.195G>A (p.Leu65=)
NM_001127649.3(PEX26):c.201C>T (p.Asn67=)
NM_001127649.3(PEX26):c.204C>T (p.His68=)
NM_001127649.3(PEX26):c.205G>C (p.Ala69Pro) rs372192286
NM_001127649.3(PEX26):c.211G>T (p.Ala71Ser) rs1329985456
NM_001127649.3(PEX26):c.214G>A (p.Glu72Lys) rs754081996
NM_001127649.3(PEX26):c.218A>T (p.Glu73Val)
NM_001127649.3(PEX26):c.222C>T (p.Pro74=) rs1198363471
NM_001127649.3(PEX26):c.224C>G (p.Ala75Gly)
NM_001127649.3(PEX26):c.224C>T (p.Ala75Val)
NM_001127649.3(PEX26):c.225G>T (p.Ala75=)
NM_001127649.3(PEX26):c.227G>A (p.Gly76Asp) rs751562812
NM_001127649.3(PEX26):c.227G>T (p.Gly76Val)
NM_001127649.3(PEX26):c.228C>T (p.Gly76=) rs786205556
NM_001127649.3(PEX26):c.230+10G>A
NM_001127649.3(PEX26):c.230+12G>C
NM_001127649.3(PEX26):c.230+15C>T rs2123644748
NM_001127649.3(PEX26):c.230+16G>A
NM_001127649.3(PEX26):c.230+1G>A
NM_001127649.3(PEX26):c.230+1G>T rs267608190
NM_001127649.3(PEX26):c.230+7G>A
NM_001127649.3(PEX26):c.230+8C>T rs886057245
NM_001127649.3(PEX26):c.231-10C>A
NM_001127649.3(PEX26):c.231-16G>T
NM_001127649.3(PEX26):c.234A>G (p.Ser78=)
NM_001127649.3(PEX26):c.235T>C (p.Leu79=) rs1182241128
NM_001127649.3(PEX26):c.236T>C (p.Leu79Ser)
NM_001127649.3(PEX26):c.237G>C (p.Leu79Phe)
NM_001127649.3(PEX26):c.245A>G (p.Lys82Arg)
NM_001127649.3(PEX26):c.250T>A (p.Ser84Thr) rs1482137285
NM_001127649.3(PEX26):c.254dup (p.Cys86fs) rs61752133
NM_001127649.3(PEX26):c.255G>A (p.Leu85=)
NM_001127649.3(PEX26):c.255G>C (p.Leu85=)
NM_001127649.3(PEX26):c.256T>C (p.Cys86Arg)
NM_001127649.3(PEX26):c.262G>A (p.Val88Met) rs555951210
NM_001127649.3(PEX26):c.265G>A (p.Gly89Arg) rs28940308
NM_001127649.3(PEX26):c.267G>T (p.Gly89=) rs1926480417
NM_001127649.3(PEX26):c.274G>A (p.Ala92Thr)
NM_001127649.3(PEX26):c.276C>A (p.Ala92=)
NM_001127649.3(PEX26):c.277C>T (p.Leu93=) rs1438726246
NM_001127649.3(PEX26):c.279G>A (p.Leu93=)
NM_001127649.3(PEX26):c.283G>A (p.Glu95Lys)
NM_001127649.3(PEX26):c.28del (p.Ala10fs)
NM_001127649.3(PEX26):c.296G>A (p.Trp99Ter) rs62641229
NM_001127649.3(PEX26):c.297G>A (p.Trp99Ter)
NM_001127649.3(PEX26):c.298C>T (p.Gln100Ter)
NM_001127649.3(PEX26):c.306C>A (p.Val102=)
NM_001127649.3(PEX26):c.30C>A (p.Ala10=)
NM_001127649.3(PEX26):c.324G>A (p.Gln108=) rs1569186417
NM_001127649.3(PEX26):c.329_330del (p.Tyr110fs)
NM_001127649.3(PEX26):c.330C>G (p.Tyr110Ter)
NM_001127649.3(PEX26):c.331C>A (p.Gln111Lys)
NM_001127649.3(PEX26):c.333G>T (p.Gln111His)
NM_001127649.3(PEX26):c.334G>C (p.Val112Leu) rs1926486603
NM_001127649.3(PEX26):c.336C>T (p.Val112=)
NM_001127649.3(PEX26):c.337C>T (p.Pro113Ser)
NM_001127649.3(PEX26):c.33C>T (p.Pro11=)
NM_001127649.3(PEX26):c.344del (p.Lys115fs)
NM_001127649.3(PEX26):c.348A>G (p.Leu116=) rs2123647615
NM_001127649.3(PEX26):c.349C>A (p.Pro117Thr) rs2123647622
NM_001127649.3(PEX26):c.34del (p.Leu12fs) rs61752129
NM_001127649.3(PEX26):c.34dup (p.Leu12fs) rs61752129
NM_001127649.3(PEX26):c.350C>T (p.Pro117Leu)
NM_001127649.3(PEX26):c.351C>T (p.Pro117=) rs2123647646
NM_001127649.3(PEX26):c.352C>G (p.Pro118Ala) rs1196346206
NM_001127649.3(PEX26):c.352C>T (p.Pro118Ser) rs1196346206
NM_001127649.3(PEX26):c.353C>A (p.Pro118His) rs61752135
NM_001127649.3(PEX26):c.353C>G (p.Pro118Arg) rs61752135
NM_001127649.3(PEX26):c.354C>G (p.Pro118=)
NM_001127649.3(PEX26):c.354del (p.Val120fs) rs1926487809
NM_001127649.3(PEX26):c.354dup (p.Lys119fs)
NM_001127649.3(PEX26):c.356A>G (p.Lys119Arg)
NM_001127649.3(PEX26):c.35T>C (p.Leu12Pro)
NM_001127649.3(PEX26):c.361_362del (p.Leu121fs)
NM_001127649.3(PEX26):c.36C>A (p.Leu12=)
NM_001127649.3(PEX26):c.36C>G (p.Leu12=)
NM_001127649.3(PEX26):c.36C>T (p.Leu12=) rs765484850
NM_001127649.3(PEX26):c.371+10C>A
NM_001127649.3(PEX26):c.371+10_371+12del
NM_001127649.3(PEX26):c.371+14G>A rs2123647751
NM_001127649.3(PEX26):c.371+19C>T rs2123647763
NM_001127649.3(PEX26):c.371+20dup
NM_001127649.3(PEX26):c.371+6T>C rs1769569086
NM_001127649.3(PEX26):c.371+8T>C
NM_001127649.3(PEX26):c.372-12dup rs1489019658
NM_001127649.3(PEX26):c.372-18G>A rs2123654065
NM_001127649.3(PEX26):c.372-18G>T
NM_001127649.3(PEX26):c.372-2A>G
NM_001127649.3(PEX26):c.372-4G>A
NM_001127649.3(PEX26):c.374T>C (p.Ile125Thr) rs2123654101
NM_001127649.3(PEX26):c.379_380delinsGA (p.Leu127Glu)
NM_001127649.3(PEX26):c.37_38del (p.Arg13fs)
NM_001127649.3(PEX26):c.381A>T (p.Leu127Phe) rs781745366
NM_001127649.3(PEX26):c.388A>C (p.Lys130Gln) rs2123654132
NM_001127649.3(PEX26):c.393G>A (p.Met131Ile)
NM_001127649.3(PEX26):c.394C>T (p.Gln132Ter)
NM_001127649.3(PEX26):c.396A>G (p.Gln132=) rs2123654144
NM_001127649.3(PEX26):c.396del (p.Glu133fs)
NM_001127649.3(PEX26):c.401C>T (p.Pro134Leu) rs1223290401
NM_001127649.3(PEX26):c.402T>C (p.Pro134=) rs2123654164
NM_001127649.3(PEX26):c.40G>A (p.Gly14Arg) rs1926389027
NM_001127649.3(PEX26):c.412C>A (p.Leu138Met)
NM_001127649.3(PEX26):c.414G>C (p.Leu138=)
NM_001127649.3(PEX26):c.423G>A (p.Val141=) rs749533743
NM_001127649.3(PEX26):c.429C>T (p.Ala143=)
NM_001127649.3(PEX26):c.436C>T (p.Gln146Ter)
NM_001127649.3(PEX26):c.438A>G (p.Gln146=)
NM_001127649.3(PEX26):c.43C>T (p.Leu15Phe)
NM_001127649.3(PEX26):c.443del (p.Pro148fs)
NM_001127649.3(PEX26):c.444A>G (p.Pro148=)
NM_001127649.3(PEX26):c.447C>G (p.Ala149=)
NM_001127649.3(PEX26):c.448A>G (p.Asn150Asp)
NM_001127649.3(PEX26):c.45C>T (p.Leu15=)
NM_001127649.3(PEX26):c.462A>T (p.Pro154=) rs1295725460
NM_001127649.3(PEX26):c.465A>G (p.Glu155=)
NM_001127649.3(PEX26):c.468T>A (p.Tyr156Ter)
NM_001127649.3(PEX26):c.468T>C (p.Tyr156=)
NM_001127649.3(PEX26):c.468T>G (p.Tyr156Ter)
NM_001127649.3(PEX26):c.472G>A (p.Ala158Thr)
NM_001127649.3(PEX26):c.473C>A (p.Ala158Asp)
NM_001127649.3(PEX26):c.477G>A (p.Leu159=)
NM_001127649.3(PEX26):c.47G>A (p.Gly16Glu) rs1321820881
NM_001127649.3(PEX26):c.48G>A (p.Gly16=)
NM_001127649.3(PEX26):c.493C>A (p.Gln165Lys)
NM_001127649.3(PEX26):c.493C>T (p.Gln165Ter) rs781370363
NM_001127649.3(PEX26):c.494A>G (p.Gln165Arg)
NM_001127649.3(PEX26):c.498G>A (p.Arg166=)
NM_001127649.3(PEX26):c.502C>T (p.Leu168=)
NM_001127649.3(PEX26):c.511C>T (p.Leu171=) rs2123654389
NM_001127649.3(PEX26):c.515G>C (p.Gly172Ala) rs2123654402
NM_001127649.3(PEX26):c.516C>T (p.Gly172=)
NM_001127649.3(PEX26):c.525G>A (p.Ser175=)
NM_001127649.3(PEX26):c.52C>A (p.Pro18Thr) rs924635830
NM_001127649.3(PEX26):c.540A>C (p.Leu180=) rs374381444
NM_001127649.3(PEX26):c.543G>A (p.Val181=)
NM_001127649.3(PEX26):c.543G>T (p.Val181=)
NM_001127649.3(PEX26):c.55C>T (p.Leu19=)
NM_001127649.3(PEX26):c.563G>C (p.Gly188Ala)
NM_001127649.3(PEX26):c.569A>G (p.Glu190Gly) rs201867828
NM_001127649.3(PEX26):c.577C>A (p.Leu193Met)
NM_001127649.3(PEX26):c.579G>A (p.Leu193=)
NM_001127649.3(PEX26):c.57G>A (p.Leu19=)
NM_001127649.3(PEX26):c.58C>G (p.Arg20Gly) rs1215836822
NM_001127649.3(PEX26):c.598C>T (p.His200Tyr)
NM_001127649.3(PEX26):c.59G>A (p.Arg20His)
NM_001127649.3(PEX26):c.600C>T (p.His200=)
NM_001127649.3(PEX26):c.601A>G (p.Thr201Ala) rs866813788
NM_001127649.3(PEX26):c.603A>G (p.Thr201=)
NM_001127649.3(PEX26):c.606G>A (p.Ala202=) rs1602462986
NM_001127649.3(PEX26):c.609G>A (p.Arg203=)
NM_001127649.3(PEX26):c.613del (p.Gln205fs) rs2123654642
NM_001127649.3(PEX26):c.615G>A (p.Gln205=)
NM_001127649.3(PEX26):c.620A>C (p.Lys207Thr)
NM_001127649.3(PEX26):c.625G>T (p.Glu209Ter) rs886057246
NM_001127649.3(PEX26):c.629A>G (p.His210Arg)
NM_001127649.3(PEX26):c.63C>T (p.Ser21=)
NM_001127649.3(PEX26):c.641A>G (p.Glu214Gly) rs2123654686
NM_001127649.3(PEX26):c.660C>T (p.Asn220=)
NM_001127649.3(PEX26):c.662T>A (p.Leu221Gln) rs767345970
NM_001127649.3(PEX26):c.667+10T>C
NM_001127649.3(PEX26):c.667+13C>T rs1384707261
NM_001127649.3(PEX26):c.667+15C>T
NM_001127649.3(PEX26):c.667+8A>C
NM_001127649.3(PEX26):c.667G>A (p.Gly223Ser) rs899632797
NM_001127649.3(PEX26):c.668-14G>C
NM_001127649.3(PEX26):c.668-16_668-15del
NM_001127649.3(PEX26):c.668-17T>C
NM_001127649.3(PEX26):c.668-18C>A
NM_001127649.3(PEX26):c.668-18C>G
NM_001127649.3(PEX26):c.668-20T>A
NM_001127649.3(PEX26):c.668-2A>G rs2123657331
NM_001127649.3(PEX26):c.668-3C>G
NM_001127649.3(PEX26):c.66C>T (p.Ser22=) rs200178985
NM_001127649.3(PEX26):c.687C>T (p.Phe229=)
NM_001127649.3(PEX26):c.688C>T (p.Leu230=)
NM_001127649.3(PEX26):c.692C>T (p.Ser231Leu) rs2123657386
NM_001127649.3(PEX26):c.697C>T (p.Pro233Ser) rs1488593497
NM_001127649.3(PEX26):c.699G>A (p.Pro233=)
NM_001127649.3(PEX26):c.699G>C (p.Pro233=) rs753221766
NM_001127649.3(PEX26):c.69G>A (p.Glu23=)
NM_001127649.3(PEX26):c.71C>T (p.Pro24Leu) rs771847925
NM_001127649.3(PEX26):c.71del (p.Pro24fs)
NM_001127649.3(PEX26):c.721G>A (p.Asp241Asn)
NM_001127649.3(PEX26):c.725_726del (p.Ser242fs)
NM_001127649.3(PEX26):c.729G>A (p.Ala243=)
NM_001127649.3(PEX26):c.72G>A (p.Pro24=)
NM_001127649.3(PEX26):c.732G>A (p.Val244=)
NM_001127649.3(PEX26):c.738C>A (p.His246Gln) rs1380881201
NM_001127649.3(PEX26):c.73_79del (p.Val25fs)
NM_001127649.3(PEX26):c.741C>T (p.Phe247=)
NM_001127649.3(PEX26):c.744T>C (p.Phe248=)
NM_001127649.3(PEX26):c.745T>C (p.Ser249Pro) rs1926792505
NM_001127649.3(PEX26):c.748C>G (p.Leu250Val) rs1049902849
NM_001127649.3(PEX26):c.74T>G (p.Val25Gly) rs2123644052
NM_001127649.3(PEX26):c.750G>A (p.Leu250=)
NM_001127649.3(PEX26):c.751C>G (p.Pro251Ala) rs2123657589
NM_001127649.3(PEX26):c.757A>T (p.Lys253Ter)
NM_001127649.3(PEX26):c.759A>G (p.Lys253=) rs1926793456
NM_001127649.3(PEX26):c.75G>A (p.Val25=)
NM_001127649.3(PEX26):c.761A>T (p.Lys254Met) rs2123657617
NM_001127649.3(PEX26):c.773C>A (p.Ala258Asp)
NM_001127649.3(PEX26):c.77G>A (p.Arg26His) rs770555305
NM_001127649.3(PEX26):c.77G>C (p.Arg26Pro) rs770555305
NM_001127649.3(PEX26):c.77G>T (p.Arg26Leu) rs770555305
NM_001127649.3(PEX26):c.783C>T (p.Ile261=) rs1926794430
NM_001127649.3(PEX26):c.784C>G (p.Leu262Val)
NM_001127649.3(PEX26):c.784C>T (p.Leu262Phe) rs776346270
NM_001127649.3(PEX26):c.789_798del (p.Cys263fs) rs1926794975
NM_001127649.3(PEX26):c.78C>G (p.Arg26=)
NM_001127649.3(PEX26):c.795G>A (p.Leu265=) rs904472324
NM_001127649.3(PEX26):c.801G>A (p.Val267=) rs1926796127
NM_001127649.3(PEX26):c.814+10G>A rs895642650
NM_001127649.3(PEX26):c.814+11G>C
NM_001127649.3(PEX26):c.814+11G>T
NM_001127649.3(PEX26):c.814+13G>C
NM_001127649.3(PEX26):c.814+15C>T rs1926797835
NM_001127649.3(PEX26):c.814+17C>T
NM_001127649.3(PEX26):c.814+18_814+19del rs1926798005
NM_001127649.3(PEX26):c.814+1G>A
NM_001127649.3(PEX26):c.814+22del
NM_001127649.3(PEX26):c.814+8G>A
NM_001127649.3(PEX26):c.815-14C>T
NM_001127649.3(PEX26):c.815-19G>C rs2123662015
NM_001127649.3(PEX26):c.815-19G>T
NM_001127649.3(PEX26):c.815-4G>A
NM_001127649.3(PEX26):c.815-5T>C
NM_001127649.3(PEX26):c.815-6C>T rs1556590594
NM_001127649.3(PEX26):c.815-6del
NM_001127649.3(PEX26):c.815-7C>G rs2123662037
NM_001127649.3(PEX26):c.819C>G (p.Ser273=)
NM_001127649.3(PEX26):c.825C>T (p.Ser275=)
NM_001127649.3(PEX26):c.832C>T (p.His278Tyr)
NM_001127649.3(PEX26):c.840C>T (p.Leu280=)
NM_001127649.3(PEX26):c.84C>G (p.Val28=)
NM_001127649.3(PEX26):c.84C>T (p.Val28=)
NM_001127649.3(PEX26):c.855G>C (p.Gln285His)
NM_001127649.3(PEX26):c.856C>G (p.Leu286Val)
NM_001127649.3(PEX26):c.861C>T (p.Phe287=)
NM_001127649.3(PEX26):c.864C>T (p.Arg288=)
NM_001127649.3(PEX26):c.872G>A (p.Arg291Gln)
NM_001127649.3(PEX26):c.873G>A (p.Arg291=)
NM_001127649.3(PEX26):c.87G>A (p.Pro29=)
NM_001127649.3(PEX26):c.87G>C (p.Pro29=)
NM_001127649.3(PEX26):c.887C>A (p.Ser296Tyr)
NM_001127649.3(PEX26):c.891C>G (p.Arg297=) rs2123662242
NM_001127649.3(PEX26):c.894C>T (p.Leu298=)
NM_001127649.3(PEX26):c.897C>T (p.Tyr299=)
NM_001127649.3(PEX26):c.900G>C (p.Gln300His)
NM_001127649.3(PEX26):c.904C>G (p.Arg302Gly)
NM_001127649.3(PEX26):c.905G>A (p.Arg302His)
NM_001127649.3(PEX26):c.90C>T (p.Ala30=)
NM_001127649.3(PEX26):c.913G>A (p.Asp305Asn)
NM_001127649.3(PEX26):c.91C>T (p.Arg31Trp)
NM_001127649.3(PEX26):c.96G>T (p.Ala32=)
NM_001127649.3(PEX26):c.98C>G (p.Pro33Arg) rs368118099
NM_001127649.3(PEX26):c.99G>C (p.Pro33=) rs1284941471
NM_001127649.3(PEX26):c.[34dup;669_814+1del]
NM_017929.5(PEX26):c.-164G>T rs1926353199
NM_017929.5(PEX26):c.-207T>C rs905580400

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