ClinVar Miner

List of variants studied for Peroxisome biogenesis disorder 11A (Zellweger) by Invitae

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ClinVar version:
Total variants: 440
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HGVS dbSNP gnomAD frequency
NM_002618.4(PEX13):c.1078C>G (p.Leu360Val) rs74350038 0.02423
NM_002618.4(PEX13):c.674A>G (p.Asp225Gly) rs116059308 0.00690
NM_002618.4(PEX13):c.355G>A (p.Val119Ile) rs147707348 0.00181
NM_002618.4(PEX13):c.893T>C (p.Met298Thr) rs138545154 0.00110
NM_002618.4(PEX13):c.1044T>C (p.Val348=) rs151304822 0.00106
NM_002618.4(PEX13):c.229T>A (p.Ser77Thr) rs150161574 0.00096
NM_002618.4(PEX13):c.141A>G (p.Ala47=) rs79842991 0.00075
NM_002618.4(PEX13):c.913+15A>G rs185304365 0.00060
NM_002618.4(PEX13):c.325C>T (p.Arg109Cys) rs143972531 0.00058
NM_002618.4(PEX13):c.791G>C (p.Ser264Thr) rs145568490 0.00043
NM_002618.4(PEX13):c.226A>G (p.Ser76Gly) rs148296743 0.00039
NM_002618.4(PEX13):c.142C>T (p.Leu48Phe) rs60203778 0.00022
NM_002618.4(PEX13):c.354T>C (p.Phe118=) rs143378216 0.00021
NM_002618.4(PEX13):c.18A>G (p.Pro6=) rs769300208 0.00020
NM_002618.4(PEX13):c.856G>A (p.Val286Ile) rs201699810 0.00017
NM_002618.4(PEX13):c.984G>A (p.Ala328=) rs144086063 0.00015
NM_002618.4(PEX13):c.113C>A (p.Thr38Asn) rs763566050 0.00009
NM_002618.4(PEX13):c.24C>A (p.Pro8=) rs774943691 0.00009
NM_002618.4(PEX13):c.278A>G (p.Tyr93Cys) rs200211896 0.00009
NM_002618.4(PEX13):c.338T>C (p.Leu113Pro) rs202077756 0.00009
NM_002618.4(PEX13):c.9C>T (p.Ser3=) rs745465894 0.00009
NM_002618.4(PEX13):c.86C>G (p.Thr29Ser) rs543856265 0.00007
NM_002618.4(PEX13):c.1180A>T (p.Ile394Phe) rs376560254 0.00006
NM_002618.4(PEX13):c.408T>A (p.Ile136=) rs145776973 0.00006
NM_002618.4(PEX13):c.677G>A (p.Arg226Gln) rs775953595 0.00006
NM_002618.4(PEX13):c.750T>C (p.Ile250=) rs765039738 0.00006
NM_002618.4(PEX13):c.913+19G>A rs189410109 0.00006
NM_002618.4(PEX13):c.580C>T (p.Arg194Trp) rs774157693 0.00005
NM_002618.4(PEX13):c.661C>G (p.Leu221Val) rs192034592 0.00005
NM_002618.4(PEX13):c.880C>T (p.Arg294Trp) rs373118250 0.00005
NM_002618.4(PEX13):c.93-18A>C rs773183074 0.00005
NM_002618.4(PEX13):c.156C>T (p.Pro52=) rs562629125 0.00004
NM_002618.4(PEX13):c.270T>C (p.Tyr90=) rs946922546 0.00004
NM_002618.4(PEX13):c.294T>C (p.Tyr98=) rs762328486 0.00004
NM_002618.4(PEX13):c.326G>A (p.Arg109His) rs372193938 0.00004
NM_002618.4(PEX13):c.353T>A (p.Phe118Tyr) rs749542687 0.00004
NM_002618.4(PEX13):c.435G>A (p.Met145Ile) rs1345774394 0.00004
NM_144709.4(PUS10):c.-16+137C>G rs1303497941 0.00004
NM_002618.4(PEX13):c.1030G>A (p.Glu344Lys) rs550755703 0.00003
NM_002618.4(PEX13):c.126A>G (p.Arg42=) rs781477994 0.00003
NM_002618.4(PEX13):c.199A>C (p.Ser67Arg) rs752073595 0.00003
NM_002618.4(PEX13):c.269A>G (p.Tyr90Cys) rs200928725 0.00003
NM_002618.4(PEX13):c.54G>A (p.Pro18=) rs1002699754 0.00003
NM_002618.4(PEX13):c.599G>A (p.Gly200Asp) rs753698277 0.00003
NM_002618.4(PEX13):c.787+12G>A rs371678615 0.00003
NM_002618.4(PEX13):c.914-4T>A rs774237731 0.00003
NM_002618.4(PEX13):c.1093A>G (p.Thr365Ala) rs753444647 0.00002
NM_002618.4(PEX13):c.1136C>T (p.Ser379Phe) rs758388660 0.00002
NM_002618.4(PEX13):c.11A>C (p.Gln4Pro) rs1171979724 0.00002
NM_002618.4(PEX13):c.205A>T (p.Asn69Tyr) rs1338444377 0.00002
NM_002618.4(PEX13):c.260A>G (p.Asn87Ser) rs367843599 0.00002
NM_002618.4(PEX13):c.285T>G (p.Pro95=) rs749465384 0.00002
NM_002618.4(PEX13):c.320G>A (p.Arg107His) rs766710343 0.00002
NM_002618.4(PEX13):c.378C>T (p.Ser126=) rs939500739 0.00002
NM_002618.4(PEX13):c.508C>T (p.Arg170Ter) rs553968959 0.00002
NM_002618.4(PEX13):c.589C>T (p.Arg197Trp) rs903847229 0.00002
NM_002618.4(PEX13):c.595T>A (p.Leu199Ile) rs565873587 0.00002
NM_002618.4(PEX13):c.62G>A (p.Gly21Glu) rs1249025009 0.00002
NM_002618.4(PEX13):c.759A>G (p.Leu253=) rs752467884 0.00002
NM_002618.4(PEX13):c.767C>T (p.Thr256Ile) rs985608709 0.00002
NM_002618.4(PEX13):c.881G>A (p.Arg294Gln) rs377426614 0.00002
NM_002618.4(PEX13):c.914-16C>G rs987622142 0.00002
NM_002618.4(PEX13):c.914-5A>G rs374011561 0.00002
NM_002618.4(PEX13):c.931C>T (p.Arg311Cys) rs376720470 0.00002
NM_002618.4(PEX13):c.932G>A (p.Arg311His) rs147344836 0.00002
NM_002618.4(PEX13):c.1000C>A (p.Leu334Ile) rs149581494 0.00001
NM_002618.4(PEX13):c.1011A>G (p.Arg337=) rs779659827 0.00001
NM_002618.4(PEX13):c.1014A>G (p.Lys338=) rs748712609 0.00001
NM_002618.4(PEX13):c.1019G>C (p.Arg340Thr) rs755008779 0.00001
NM_002618.4(PEX13):c.103T>A (p.Leu35Met) rs752671523 0.00001
NM_002618.4(PEX13):c.1053G>C (p.Gln351His) rs759524829 0.00001
NM_002618.4(PEX13):c.1058A>G (p.Gln353Arg) rs755510406 0.00001
NM_002618.4(PEX13):c.1059A>G (p.Gln353=) rs892266553 0.00001
NM_002618.4(PEX13):c.1070A>G (p.Asn357Ser) rs144300539 0.00001
NM_002618.4(PEX13):c.1094C>T (p.Thr365Met) rs769398640 0.00001
NM_002618.4(PEX13):c.1095G>A (p.Thr365=) rs754460647 0.00001
NM_002618.4(PEX13):c.1132G>A (p.Glu378Lys) rs1167111884 0.00001
NM_002618.4(PEX13):c.1144G>C (p.Val382Leu) rs886044219 0.00001
NM_002618.4(PEX13):c.1158G>A (p.Lys386=) rs371789976 0.00001
NM_002618.4(PEX13):c.116T>C (p.Leu39Ser) rs1351769986 0.00001
NM_002618.4(PEX13):c.1183G>A (p.Gly395Arg) rs1337201612 0.00001
NM_002618.4(PEX13):c.122C>T (p.Thr41Ile) rs1282669816 0.00001
NM_002618.4(PEX13):c.130G>A (p.Gly44Arg) rs1281056404 0.00001
NM_002618.4(PEX13):c.139G>A (p.Ala47Thr) rs1292631867 0.00001
NM_002618.4(PEX13):c.14C>T (p.Pro5Leu) rs898062680 0.00001
NM_002618.4(PEX13):c.154C>A (p.Pro52Thr) rs1210739309 0.00001
NM_002618.4(PEX13):c.166C>T (p.Leu56Phe) rs1292485549 0.00001
NM_002618.4(PEX13):c.1A>G (p.Met1Val) rs1201215154 0.00001
NM_002618.4(PEX13):c.201dup (p.Val68fs) rs1288976071 0.00001
NM_002618.4(PEX13):c.217C>G (p.Pro73Ala) rs767895802 0.00001
NM_002618.4(PEX13):c.241G>A (p.Gly81Arg) rs892846278 0.00001
NM_002618.4(PEX13):c.257G>A (p.Gly86Glu) rs752312334 0.00001
NM_002618.4(PEX13):c.276C>T (p.Gly92=) rs770117657 0.00001
NM_002618.4(PEX13):c.307C>T (p.Leu103=) rs767987790 0.00001
NM_002618.4(PEX13):c.311G>A (p.Gly104Asp) rs773664586 0.00001
NM_002618.4(PEX13):c.319C>T (p.Arg107Cys) rs776824458 0.00001
NM_002618.4(PEX13):c.322C>T (p.Leu108Phe) rs138030119 0.00001
NM_002618.4(PEX13):c.374G>A (p.Ser125Asn) rs748193136 0.00001
NM_002618.4(PEX13):c.381G>A (p.Arg127=) rs772627459 0.00001
NM_002618.4(PEX13):c.403A>T (p.Ser135Cys) rs1357787046 0.00001
NM_002618.4(PEX13):c.409G>A (p.Val137Met) rs768438349 0.00001
NM_002618.4(PEX13):c.433A>G (p.Met145Val) rs1345860074 0.00001
NM_002618.4(PEX13):c.43C>T (p.Arg15Cys) rs1311634962 0.00001
NM_002618.4(PEX13):c.44G>A (p.Arg15His) rs576438646 0.00001
NM_002618.4(PEX13):c.450C>T (p.Thr150=) rs1228236816 0.00001
NM_002618.4(PEX13):c.464A>G (p.Tyr155Cys) rs1298522041 0.00001
NM_002618.4(PEX13):c.465T>G (p.Tyr155Ter) rs369851185 0.00001
NM_002618.4(PEX13):c.46C>T (p.Arg16Ter) rs1178588746 0.00001
NM_002618.4(PEX13):c.493G>A (p.Ala165Thr) rs1481858907 0.00001
NM_002618.4(PEX13):c.500A>G (p.His167Arg) rs1336772620 0.00001
NM_002618.4(PEX13):c.509G>A (p.Arg170Gln) rs779100414 0.00001
NM_002618.4(PEX13):c.534G>T (p.Val178=) rs1162525817 0.00001
NM_002618.4(PEX13):c.565C>T (p.Arg189Trp) rs771451906 0.00001
NM_002618.4(PEX13):c.569A>G (p.Tyr190Cys) rs763396088 0.00001
NM_002618.4(PEX13):c.581G>A (p.Arg194Gln) rs761487103 0.00001
NM_002618.4(PEX13):c.592A>T (p.Met198Leu) rs760577554 0.00001
NM_002618.4(PEX13):c.611G>A (p.Gly204Asp) rs752948360 0.00001
NM_002618.4(PEX13):c.620A>C (p.Asn207Thr) rs1316575619 0.00001
NM_002618.4(PEX13):c.64C>T (p.Pro22Ser) rs1466677796 0.00001
NM_002618.4(PEX13):c.659G>A (p.Cys220Tyr) rs988856957 0.00001
NM_002618.4(PEX13):c.66G>A (p.Pro22=) rs1264694420 0.00001
NM_002618.4(PEX13):c.691G>A (p.Ala231Thr) rs1471254251 0.00001
NM_002618.4(PEX13):c.762G>A (p.Leu254=) rs1282121871 0.00001
NM_002618.4(PEX13):c.777T>C (p.Asp259=) rs781350418 0.00001
NM_002618.4(PEX13):c.788-8G>A rs1680695333 0.00001
NM_002618.4(PEX13):c.831C>T (p.Ala277=) rs751807871 0.00001
NM_002618.4(PEX13):c.8C>G (p.Ser3Cys) rs950397917 0.00001
NM_002618.4(PEX13):c.905C>G (p.Ala302Gly) rs770549469 0.00001
NM_002618.4(PEX13):c.913+5T>G rs1380556679 0.00001
NM_002618.4(PEX13):c.914-8T>G rs769302153 0.00001
NM_002618.4(PEX13):c.939G>A (p.Trp313Ter) rs1428782325 0.00001
NM_002618.4(PEX13):c.94T>C (p.Ser32Pro) rs759610758 0.00001
NM_002618.4(PEX13):c.961C>G (p.Gln321Glu) rs765658938 0.00001
NM_002618.4(PEX13):c.967A>C (p.Thr323Pro) rs753122073 0.00001
NM_002618.4(PEX13):c.968C>T (p.Thr323Ile) rs1559047077 0.00001
NM_002618.4(PEX13):c.999T>C (p.Ile333=) rs750110664 0.00001
NM_144709.4(PUS10):c.-16+151A>G rs1291662088 0.00001
NC_000002.11:g.(?_61244895)_(61275905_?)del
NC_000002.11:g.(?_61244895)_(61275905_?)dup
NC_000002.11:g.(?_61258534)_(61275905_?)del
NC_000002.11:g.(?_61258534)_(62063264_?)dup
NC_000002.11:g.(?_61272841)_(61275905_?)del
NC_000002.11:g.(?_61272841)_(61275905_?)dup
NM_002618.4(PEX13):c.1003G>A (p.Gly335Ser) rs1680746099
NM_002618.4(PEX13):c.1003G>C (p.Gly335Arg) rs1680746099
NM_002618.4(PEX13):c.1027G>A (p.Val343Met) rs1680746493
NM_002618.4(PEX13):c.1033T>A (p.Ser345Thr) rs2104814598
NM_002618.4(PEX13):c.1037G>A (p.Ser346Asn)
NM_002618.4(PEX13):c.1040A>G (p.Lys347Arg) rs2104814606
NM_002618.4(PEX13):c.1042G>A (p.Val348Ile)
NM_002618.4(PEX13):c.1042G>C (p.Val348Leu) rs1680746855
NM_002618.4(PEX13):c.1045T>C (p.Ser349Pro) rs747286284
NM_002618.4(PEX13):c.1046C>T (p.Ser349Phe) rs1367527916
NM_002618.4(PEX13):c.1049A>G (p.Lys350Arg) rs1052212655
NM_002618.4(PEX13):c.1052A>G (p.Gln351Arg)
NM_002618.4(PEX13):c.1058A>T (p.Gln353Leu)
NM_002618.4(PEX13):c.1071C>G (p.Asn357Lys) rs1371570388
NM_002618.4(PEX13):c.1071C>T (p.Asn357=)
NM_002618.4(PEX13):c.1075A>G (p.Thr359Ala)
NM_002618.4(PEX13):c.1077A>G (p.Thr359=)
NM_002618.4(PEX13):c.1080A>G (p.Leu360=) rs2104814664
NM_002618.4(PEX13):c.1083T>G (p.Thr361=) rs2104814667
NM_002618.4(PEX13):c.1084A>G (p.Lys362Glu)
NM_002618.4(PEX13):c.1088G>A (p.Gly363Glu)
NM_002618.4(PEX13):c.1090G>A (p.Ala364Thr) rs550344775
NM_002618.4(PEX13):c.1090G>T (p.Ala364Ser) rs550344775
NM_002618.4(PEX13):c.1097T>C (p.Val366Ala) rs1441442802
NM_002618.4(PEX13):c.1104T>C (p.Asp368=)
NM_002618.4(PEX13):c.1127C>A (p.Ala376Asp) rs1412376429
NM_002618.4(PEX13):c.1131T>C (p.Phe377=)
NM_002618.4(PEX13):c.1132G>C (p.Glu378Gln) rs1167111884
NM_002618.4(PEX13):c.1138G>T (p.Val380Phe)
NM_002618.4(PEX13):c.113C>T (p.Thr38Ile)
NM_002618.4(PEX13):c.1140T>G (p.Val380=)
NM_002618.4(PEX13):c.1143T>A (p.Phe381Leu) rs1680750260
NM_002618.4(PEX13):c.1149A>G (p.Glu383=) rs2104814749
NM_002618.4(PEX13):c.1151C>G (p.Thr384Ser) rs1680750357
NM_002618.4(PEX13):c.1158G>C (p.Lys386Asn) rs371789976
NM_002618.4(PEX13):c.1159G>A (p.Val387Ile)
NM_002618.4(PEX13):c.115T>G (p.Leu39Val)
NM_002618.4(PEX13):c.1163C>T (p.Pro388Leu) rs1203618499
NM_002618.4(PEX13):c.1169C>T (p.Ala390Val)
NM_002618.4(PEX13):c.1180A>G (p.Ile394Val)
NM_002618.4(PEX13):c.1186A>G (p.Lys396Glu) rs749088744
NM_002618.4(PEX13):c.1188A>G (p.Lys396=)
NM_002618.4(PEX13):c.1191T>C (p.Asp397=)
NM_002618.4(PEX13):c.1193G>A (p.Gly398Glu) rs1680751404
NM_002618.4(PEX13):c.1199A>T (p.Lys400Met)
NM_002618.4(PEX13):c.119T>C (p.Met40Thr)
NM_002618.4(PEX13):c.1203A>G (p.Gln401=) rs2104814800
NM_002618.4(PEX13):c.1205A>G (p.Asp402Gly)
NM_002618.4(PEX13):c.121A>G (p.Thr41Ala) rs757604504
NM_002618.4(PEX13):c.123A>G (p.Thr41=)
NM_002618.4(PEX13):c.124A>C (p.Arg42=)
NM_002618.4(PEX13):c.12G>A (p.Gln4=)
NM_002618.4(PEX13):c.132A>G (p.Gly44=)
NM_002618.4(PEX13):c.135A>G (p.Gln45=)
NM_002618.4(PEX13):c.135A>T (p.Gln45His)
NM_002618.4(PEX13):c.138A>G (p.Pro46=)
NM_002618.4(PEX13):c.145dup (p.Thr49fs)
NM_002618.4(PEX13):c.147C>A (p.Thr49=)
NM_002618.4(PEX13):c.147C>T (p.Thr49=)
NM_002618.4(PEX13):c.148del (p.Arg50fs)
NM_002618.4(PEX13):c.151G>A (p.Val51Met) rs2104803197
NM_002618.4(PEX13):c.159_160del (p.Pro54fs) rs2104803205
NM_002618.4(PEX13):c.163A>G (p.Ile55Val)
NM_002618.4(PEX13):c.174G>A (p.Arg58=)
NM_002618.4(PEX13):c.18A>T (p.Pro6=)
NM_002618.4(PEX13):c.202G>A (p.Val68Met) rs1553423403
NM_002618.4(PEX13):c.204G>C (p.Val68=)
NM_002618.4(PEX13):c.204G>T (p.Val68=)
NM_002618.4(PEX13):c.206A>G (p.Asn69Ser)
NM_002618.4(PEX13):c.208A>G (p.Thr70Ala)
NM_002618.4(PEX13):c.209C>G (p.Thr70Ser) rs2104803233
NM_002618.4(PEX13):c.20dup (p.Pro8fs)
NM_002618.4(PEX13):c.219T>C (p.Pro73=)
NM_002618.4(PEX13):c.222T>C (p.Ala74=)
NM_002618.4(PEX13):c.239C>T (p.Ser80Phe)
NM_002618.4(PEX13):c.23C>T (p.Pro8Leu)
NM_002618.4(PEX13):c.254A>G (p.Tyr85Cys)
NM_002618.4(PEX13):c.268T>G (p.Tyr90Asp)
NM_002618.4(PEX13):c.26C>A (p.Pro9His)
NM_002618.4(PEX13):c.26C>G (p.Pro9Arg) rs764069625
NM_002618.4(PEX13):c.275G>A (p.Gly92Asp) rs745620818
NM_002618.4(PEX13):c.27C>G (p.Pro9=)
NM_002618.4(PEX13):c.27C>T (p.Pro9=)
NM_002618.4(PEX13):c.27del (p.Lys10fs)
NM_002618.4(PEX13):c.283C>T (p.Pro95Ser) rs1680451211
NM_002618.4(PEX13):c.289A>G (p.Ser97Gly)
NM_002618.4(PEX13):c.296G>T (p.Gly99Val)
NM_002618.4(PEX13):c.297A>G (p.Gly99=)
NM_002618.4(PEX13):c.29A>G (p.Lys10Arg) rs1230492316
NM_002618.4(PEX13):c.29A>T (p.Lys10Ile)
NM_002618.4(PEX13):c.300T>C (p.Tyr100=) rs2104803312
NM_002618.4(PEX13):c.302A>G (p.Asn101Ser) rs1680451583
NM_002618.4(PEX13):c.307C>G (p.Leu103Val) rs767987790
NM_002618.4(PEX13):c.309G>T (p.Leu103=)
NM_002618.4(PEX13):c.314A>G (p.Tyr105Cys)
NM_002618.4(PEX13):c.318C>T (p.Asn106=) rs2104803339
NM_002618.4(PEX13):c.31C>G (p.Pro11Ala) rs1680108011
NM_002618.4(PEX13):c.321C>A (p.Arg107=) rs1245330810
NM_002618.4(PEX13):c.326G>C (p.Arg109Pro) rs372193938
NM_002618.4(PEX13):c.32C>A (p.Pro11His) rs564528921
NM_002618.4(PEX13):c.32C>G (p.Pro11Arg) rs564528921
NM_002618.4(PEX13):c.32C>T (p.Pro11Leu) rs564528921
NM_002618.4(PEX13):c.33C>G (p.Pro11=) rs1680108410
NM_002618.4(PEX13):c.340C>G (p.Pro114Ala)
NM_002618.4(PEX13):c.342A>G (p.Pro114=)
NM_002618.4(PEX13):c.345C>T (p.Pro115=) rs2104803376
NM_002618.4(PEX13):c.348T>C (p.Ser116=)
NM_002618.4(PEX13):c.366T>C (p.Ala122=) rs2104803394
NM_002618.4(PEX13):c.367G>T (p.Glu123Ter) rs2104803395
NM_002618.4(PEX13):c.379A>T (p.Arg127Trp) rs1224323223
NM_002618.4(PEX13):c.382G>C (p.Gly128Arg)
NM_002618.4(PEX13):c.382G>T (p.Gly128Cys)
NM_002618.4(PEX13):c.383G>T (p.Gly128Val) rs554152771
NM_002618.4(PEX13):c.387A>C (p.Ala129=)
NM_002618.4(PEX13):c.391C>T (p.Gln131Ter)
NM_002618.4(PEX13):c.417A>G (p.Ala139=) rs886056197
NM_002618.4(PEX13):c.419T>C (p.Phe140Ser)
NM_002618.4(PEX13):c.423C>G (p.Ala141=)
NM_002618.4(PEX13):c.423C>T (p.Ala141=)
NM_002618.4(PEX13):c.426T>A (p.Ser142=)
NM_002618.4(PEX13):c.42C>A (p.Thr14=)
NM_002618.4(PEX13):c.431G>T (p.Ser144Ile) rs762747711
NM_002618.4(PEX13):c.431del (p.Ser144fs)
NM_002618.4(PEX13):c.447T>C (p.Ala149=)
NM_002618.4(PEX13):c.448A>G (p.Thr150Ala)
NM_002618.4(PEX13):c.458C>T (p.Ala153Val) rs2104803452
NM_002618.4(PEX13):c.45C>G (p.Arg15=) rs1405144717
NM_002618.4(PEX13):c.45C>T (p.Arg15=) rs1405144717
NM_002618.4(PEX13):c.460G>A (p.Val154Ile) rs2104803454
NM_002618.4(PEX13):c.463T>C (p.Tyr155His) rs2104803455
NM_002618.4(PEX13):c.465T>C (p.Tyr155=)
NM_002618.4(PEX13):c.468C>T (p.Asn156=)
NM_002618.4(PEX13):c.475A>G (p.Arg159Gly) rs2104803471
NM_002618.4(PEX13):c.478G>C (p.Ala160Pro) rs1559035602
NM_002618.4(PEX13):c.484T>C (p.Leu162=)
NM_002618.4(PEX13):c.487G>C (p.Asp163His) rs969985837
NM_002618.4(PEX13):c.488A>T (p.Asp163Val) rs2104803479
NM_002618.4(PEX13):c.499del (p.His167fs) rs2104803491
NM_002618.4(PEX13):c.504T>C (p.Phe168=)
NM_002618.4(PEX13):c.507C>A (p.Ser169=)
NM_002618.4(PEX13):c.507C>T (p.Ser169=)
NM_002618.4(PEX13):c.508C>A (p.Arg170=) rs553968959
NM_002618.4(PEX13):c.510A>G (p.Arg170=)
NM_002618.4(PEX13):c.511T>C (p.Leu171=)
NM_002618.4(PEX13):c.520C>T (p.His174Tyr)
NM_002618.4(PEX13):c.53C>T (p.Pro18Leu) rs2104787557
NM_002618.4(PEX13):c.540A>C (p.Ser180=)
NM_002618.4(PEX13):c.549A>G (p.Ala183=)
NM_002618.4(PEX13):c.54G>T (p.Pro18=) rs1002699754
NM_002618.4(PEX13):c.556A>T (p.Arg186Trp) rs2104803544
NM_002618.4(PEX13):c.558G>A (p.Arg186=)
NM_002618.4(PEX13):c.561T>C (p.Thr187=) rs1442600682
NM_002618.4(PEX13):c.562A>G (p.Ile188Val) rs1360784990
NM_002618.4(PEX13):c.563T>C (p.Ile188Thr) rs2104803547
NM_002618.4(PEX13):c.564A>C (p.Ile188=)
NM_002618.4(PEX13):c.566G>A (p.Arg189Gln) rs777179456
NM_002618.4(PEX13):c.566G>T (p.Arg189Leu) rs777179456
NM_002618.4(PEX13):c.567G>A (p.Arg189=)
NM_002618.4(PEX13):c.568T>C (p.Tyr190His) rs2104803558
NM_002618.4(PEX13):c.579A>G (p.Arg193=) rs2104803563
NM_002618.4(PEX13):c.580C>A (p.Arg194=) rs774157693
NM_002618.4(PEX13):c.585A>G (p.Leu195=)
NM_002618.4(PEX13):c.586C>T (p.Gln196Ter) rs1559035738
NM_002618.4(PEX13):c.590G>A (p.Arg197Gln)
NM_002618.4(PEX13):c.591G>A (p.Arg197=) rs2104803591
NM_002618.4(PEX13):c.594G>A (p.Met198Ile) rs1388373241
NM_002618.4(PEX13):c.596T>G (p.Leu199Ter)
NM_002618.4(PEX13):c.59C>G (p.Ala20Gly) rs2104787633
NM_002618.4(PEX13):c.605G>A (p.Arg202Lys) rs1336466520
NM_002618.4(PEX13):c.60C>T (p.Ala20=)
NM_002618.4(PEX13):c.610G>A (p.Gly204Ser) rs2104803612
NM_002618.4(PEX13):c.611G>C (p.Gly204Ala)
NM_002618.4(PEX13):c.612C>T (p.Gly204=) rs2104803616
NM_002618.4(PEX13):c.618G>C (p.Glu206Asp) rs1680458661
NM_002618.4(PEX13):c.624A>G (p.Glu208=) rs2104803624
NM_002618.4(PEX13):c.625G>T (p.Asp209Tyr)
NM_002618.4(PEX13):c.629T>C (p.Leu210Pro)
NM_002618.4(PEX13):c.633G>A (p.Trp211Ter)
NM_002618.4(PEX13):c.640A>G (p.Ser214Gly) rs2104803638
NM_002618.4(PEX13):c.641G>C (p.Ser214Thr) rs1207829224
NM_002618.4(PEX13):c.647G>C (p.Gly216Ala)
NM_002618.4(PEX13):c.648A>G (p.Gly216=)
NM_002618.4(PEX13):c.657A>G (p.Ala219=)
NM_002618.4(PEX13):c.660C>T (p.Cys220=)
NM_002618.4(PEX13):c.662T>G (p.Leu221Arg) rs1475093874
NM_002618.4(PEX13):c.669T>C (p.Ala223=)
NM_002618.4(PEX13):c.672G>A (p.Glu224=)
NM_002618.4(PEX13):c.676C>T (p.Arg226Ter)
NM_002618.4(PEX13):c.67G>C (p.Gly23Arg)
NM_002618.4(PEX13):c.684T>G (p.Ala228=) rs2104803682
NM_002618.4(PEX13):c.68G>A (p.Gly23Glu)
NM_002618.4(PEX13):c.696A>C (p.Lys232Asn) rs1680460565
NM_002618.4(PEX13):c.69A>C (p.Gly23=)
NM_002618.4(PEX13):c.69A>T (p.Gly23=)
NM_002618.4(PEX13):c.6G>C (p.Ala2=)
NM_002618.4(PEX13):c.6G>T (p.Ala2=)
NM_002618.4(PEX13):c.705A>G (p.Pro235=)
NM_002618.4(PEX13):c.705A>T (p.Pro235=)
NM_002618.4(PEX13):c.706A>G (p.Ile236Val) rs1292217685
NM_002618.4(PEX13):c.70C>T (p.Pro24Ser)
NM_002618.4(PEX13):c.712T>G (p.Leu238Val) rs1680460970
NM_002618.4(PEX13):c.714G>A (p.Leu238=)
NM_002618.4(PEX13):c.716T>C (p.Phe239Ser)
NM_002618.4(PEX13):c.719T>G (p.Phe240Cys)
NM_002618.4(PEX13):c.723T>A (p.Ala241=) rs1205501080
NM_002618.4(PEX13):c.727A>G (p.Ile243Val)
NM_002618.4(PEX13):c.729C>T (p.Ile243=)
NM_002618.4(PEX13):c.735T>A (p.Gly245=)
NM_002618.4(PEX13):c.738T>C (p.Gly246=)
NM_002618.4(PEX13):c.744C>G (p.Tyr248Ter)
NM_002618.4(PEX13):c.744C>T (p.Tyr248=)
NM_002618.4(PEX13):c.745C>T (p.Leu249Phe) rs2104803738
NM_002618.4(PEX13):c.759A>T (p.Leu253=)
NM_002618.4(PEX13):c.759_760del (p.Leu254fs)
NM_002618.4(PEX13):c.769C>T (p.His257Tyr)
NM_002618.4(PEX13):c.774T>A (p.Ser258Arg)
NM_002618.4(PEX13):c.778G>C (p.Glu260Gln)
NM_002618.4(PEX13):c.787+10C>T
NM_002618.4(PEX13):c.787+12G>T
NM_002618.4(PEX13):c.787+16G>A
NM_002618.4(PEX13):c.787+1G>A rs2104803776
NM_002618.4(PEX13):c.787G>C (p.Asp263His) rs766753038
NM_002618.4(PEX13):c.788-5T>C rs561624639
NM_002618.4(PEX13):c.788-7C>T
NM_002618.4(PEX13):c.788-9G>C
NM_002618.4(PEX13):c.801G>A (p.Trp267Ter)
NM_002618.4(PEX13):c.802G>A (p.Ala268Thr) rs762797895
NM_002618.4(PEX13):c.805A>G (p.Ser269Gly)
NM_002618.4(PEX13):c.806G>C (p.Ser269Thr) rs2104812693
NM_002618.4(PEX13):c.807T>C (p.Ser269=)
NM_002618.4(PEX13):c.815A>G (p.Asp272Gly) rs2104812700
NM_002618.4(PEX13):c.828T>C (p.Val276=)
NM_002618.4(PEX13):c.829dup (p.Ala277fs) rs2104812709
NM_002618.4(PEX13):c.832A>C (p.Arg278=)
NM_002618.4(PEX13):c.838G>C (p.Glu280Gln)
NM_002618.4(PEX13):c.845A>G (p.Asp282Gly) rs1573560642
NM_002618.4(PEX13):c.846T>G (p.Asp282Glu)
NM_002618.4(PEX13):c.847T>G (p.Phe283Val) rs1680696228
NM_002618.4(PEX13):c.848T>C (p.Phe283Ser)
NM_002618.4(PEX13):c.84C>T (p.Pro28=)
NM_002618.4(PEX13):c.853G>C (p.Ala285Pro) rs2104812755
NM_002618.4(PEX13):c.855C>T (p.Ala285=) rs1438696242
NM_002618.4(PEX13):c.855del (p.Val286fs)
NM_002618.4(PEX13):c.85A>G (p.Thr29Ala)
NM_002618.4(PEX13):c.867A>C (p.Glu289Asp)
NM_002618.4(PEX13):c.86C>A (p.Thr29Asn) rs543856265
NM_002618.4(PEX13):c.871A>G (p.Ile291Val) rs1444535263
NM_002618.4(PEX13):c.871del (p.Ile291fs)
NM_002618.4(PEX13):c.872T>C (p.Ile291Thr)
NM_002618.4(PEX13):c.883G>T (p.Ala295Ser)
NM_002618.4(PEX13):c.892A>T (p.Met298Leu) rs2104812788
NM_002618.4(PEX13):c.89T>C (p.Phe30Ser) rs771610641
NM_002618.4(PEX13):c.903A>G (p.Leu301=)
NM_002618.4(PEX13):c.913+11A>G
NM_002618.4(PEX13):c.913+13G>A
NM_002618.4(PEX13):c.913+1G>T
NM_002618.4(PEX13):c.913+3A>G rs2104812816
NM_002618.4(PEX13):c.913+8A>G
NM_002618.4(PEX13):c.914-10T>C
NM_002618.4(PEX13):c.914-12T>C rs1015226405
NM_002618.4(PEX13):c.914-16_914-15insA
NM_002618.4(PEX13):c.914-17T>G
NM_002618.4(PEX13):c.914-18G>A
NM_002618.4(PEX13):c.914-19T>G
NM_002618.4(PEX13):c.914-6C>T rs2104814454
NM_002618.4(PEX13):c.914-7C>T
NM_002618.4(PEX13):c.914-8dup rs36090948
NM_002618.4(PEX13):c.915A>G (p.Glu305=)
NM_002618.4(PEX13):c.92+1G>A
NM_002618.4(PEX13):c.921A>G (p.Gln307=)
NM_002618.4(PEX13):c.93-11T>C
NM_002618.4(PEX13):c.93-12T>A
NM_002618.4(PEX13):c.93-1G>A
NM_002618.4(PEX13):c.93-3dup rs2104803114
NM_002618.4(PEX13):c.93-8G>C
NM_002618.4(PEX13):c.942T>A (p.Leu314=)
NM_002618.4(PEX13):c.943C>T (p.Leu315=)
NM_002618.4(PEX13):c.955G>C (p.Asp319His)
NM_002618.4(PEX13):c.957T>C (p.Asp319=)
NM_002618.4(PEX13):c.95C>A (p.Ser32Tyr)
NM_002618.4(PEX13):c.963A>G (p.Gln321=)
NM_002618.4(PEX13):c.965C>T (p.Thr322Ile) rs920607306
NM_002618.4(PEX13):c.969A>G (p.Thr323=)
NM_002618.4(PEX13):c.96T>A (p.Ser32=)
NM_002618.4(PEX13):c.977T>C (p.Ile326Thr) rs61752115
NM_002618.4(PEX13):c.978A>G (p.Ile326Met) rs1680745437
NM_002618.4(PEX13):c.981T>C (p.Pro327=)
NM_002618.4(PEX13):c.984G>T (p.Ala328=) rs144086063
NM_002618.4(PEX13):c.98C>A (p.Ala33Asp) rs1458042764
NM_002618.4(PEX13):c.990T>C (p.Tyr330=)
NM_002618.4(PEX13):c.995A>G (p.Lys332Arg) rs1234870387
NM_002618.4(PEX13):c.9C>G (p.Ser3=) rs745465894
NM_144709.4(PUS10):c.-16+139G>T
NM_144709.4(PUS10):c.-16+141A>C
NM_144709.4(PUS10):c.-16+142G>A
NM_144709.4(PUS10):c.-16+147C>T rs1387361776
NM_144709.4(PUS10):c.-16+150C>A

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