ClinVar Miner

List of variants studied for peroxisome biogenesis disorder 2B

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 835
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HGVS dbSNP gnomAD frequency
NM_001351132.2(PEX5):c.967-26C>G rs3816424 0.29645
NM_001351132.2(PEX5):c.815T>C (p.Met272Thr) rs76708142 0.02223
NM_001351132.2(PEX5):c.1718+13A>G rs116873137 0.01093
NM_001351132.2(PEX5):c.998G>A (p.Arg333His) rs59209175 0.00776
NM_001351132.2(PEX5):c.1632G>A (p.Ala544=) rs115338343 0.00644
NM_001351132.2(PEX5):c.1053G>A (p.Leu351=) rs61740909 0.00290
NM_001351132.2(PEX5):c.1521C>T (p.Ala507=) rs150761638 0.00221
NM_001351132.2(PEX5):c.604G>C (p.Val202Leu) rs149102738 0.00209
NM_001351132.2(PEX5):c.1567T>C (p.Leu523=) rs144165818 0.00158
NM_001351132.2(PEX5):c.471C>T (p.Ala157=) rs144331955 0.00108
NM_001351132.2(PEX5):c.658C>T (p.Arg220Trp) rs200020561 0.00103
NM_001351132.2(PEX5):c.1178G>A (p.Arg393Gln) rs145690714 0.00070
NM_001351132.2(PEX5):c.1638C>T (p.Arg546=) rs142408719 0.00070
NM_001351132.2(PEX5):c.1872C>T (p.Asp624=) rs148914171 0.00053
NM_001351132.2(PEX5):c.1587C>T (p.Gly529=) rs144401814 0.00048
NM_001351132.2(PEX5):c.1814G>A (p.Ser605Asn) rs146567534 0.00047
NM_001351132.2(PEX5):c.552-7G>A rs189631769 0.00044
NM_001351132.2(PEX5):c.754-4G>A rs111286659 0.00039
NM_001351132.2(PEX5):c.1707C>T (p.Leu569=) rs151312595 0.00035
NM_001351132.2(PEX5):c.1718+17A>G rs375272295 0.00031
NM_001351132.2(PEX5):c.590C>T (p.Thr197Met) rs144897942 0.00029
NM_001351132.2(PEX5):c.317-15T>C rs187839532 0.00027
NM_001351132.2(PEX5):c.452C>G (p.Pro151Arg) rs200720523 0.00022
NM_001351132.2(PEX5):c.316+3G>A rs200776790 0.00017
NM_001351132.2(PEX5):c.396T>C (p.Thr132=) rs370827246 0.00016
NM_001351132.2(PEX5):c.670G>A (p.Glu224Lys) rs767347186 0.00016
NM_001351132.2(PEX5):c.705G>A (p.Ser235=) rs184234003 0.00016
NM_001351132.2(PEX5):c.129A>G (p.Gly43=) rs932238098 0.00015
NM_001351132.2(PEX5):c.371C>G (p.Ala124Gly) rs143307183 0.00015
NM_001351132.2(PEX5):c.1395C>A (p.Asp465Glu) rs772561166 0.00014
NM_001351132.2(PEX5):c.1548C>T (p.Ser516=) rs143571888 0.00014
NM_001351132.2(PEX5):c.1559A>G (p.Asn520Ser) rs139364109 0.00013
NM_001351132.2(PEX5):c.1897A>C (p.Thr633Pro) rs200471952 0.00013
NM_001351132.2(PEX5):c.753+10T>C rs373242881 0.00012
NM_001351132.2(PEX5):c.1439G>A (p.Arg480Gln) rs759523235 0.00011
NM_001351132.2(PEX5):c.1522G>A (p.Val508Met) rs138028549 0.00011
NM_001351132.2(PEX5):c.1647C>T (p.Leu549=) rs753512677 0.00011
NM_001351132.2(PEX5):c.258C>T (p.Asp86=) rs144351488 0.00011
NM_001351132.2(PEX5):c.496C>G (p.Gln166Glu) rs751043763 0.00011
NM_001351132.2(PEX5):c.680T>C (p.Val227Ala) rs777842778 0.00011
NM_001351132.2(PEX5):c.966+3G>A rs373763823 0.00011
NM_001351132.2(PEX5):c.1653C>G (p.Leu551=) rs200215904 0.00010
NM_001351132.2(PEX5):c.195A>C (p.Glu65Asp) rs147730752 0.00010
NM_001351132.2(PEX5):c.317-8C>T rs368648650 0.00010
NM_001351132.2(PEX5):c.1245C>T (p.Asn415=) rs138243167 0.00009
NM_001351132.2(PEX5):c.1636C>T (p.Arg546Cys) rs759334733 0.00009
NM_001351132.2(PEX5):c.1875G>A (p.Ala625=) rs371233272 0.00009
NM_001351132.2(PEX5):c.1893C>T (p.Leu631=) rs143610074 0.00009
NM_001351132.2(PEX5):c.610A>G (p.Lys204Glu) rs149289353 0.00009
NM_001351132.2(PEX5):c.754-5C>T rs377379933 0.00009
NM_001351132.2(PEX5):c.1869C>T (p.Ala623=) rs755919579 0.00008
NM_001351132.2(PEX5):c.472C>T (p.Arg158Cys) rs747679909 0.00008
NM_001351132.2(PEX5):c.642+6C>T rs376779359 0.00008
NM_001351132.2(PEX5):c.655G>A (p.Val219Met) rs144508802 0.00008
NM_001351132.2(PEX5):c.659G>A (p.Arg220Gln) rs148417349 0.00008
NM_001351132.2(PEX5):c.1030C>T (p.Arg344Trp) rs145762725 0.00007
NM_001351132.2(PEX5):c.1182-9A>T rs375860970 0.00007
NM_001351132.2(PEX5):c.1435G>C (p.Val479Leu) rs751226125 0.00007
NM_001351132.2(PEX5):c.356C>T (p.Ala119Val) rs745341735 0.00007
NM_001351132.2(PEX5):c.1110+16G>A rs372043071 0.00006
NM_001351132.2(PEX5):c.1381T>A (p.Ser461Thr) rs369698308 0.00006
NM_001351132.2(PEX5):c.1689C>T (p.Gly563=) rs376612398 0.00006
NM_001351132.2(PEX5):c.1800G>A (p.Ser600=) rs370306007 0.00006
NM_001351132.2(PEX5):c.1848G>A (p.Gln616=) rs551068158 0.00006
NM_001351132.2(PEX5):c.1873G>A (p.Ala625Thr) rs143600154 0.00006
NM_001351132.2(PEX5):c.1902G>A (p.Met634Ile) rs145886418 0.00006
NM_001351132.2(PEX5):c.230G>A (p.Arg77His) rs780957318 0.00006
NM_001351132.2(PEX5):c.421T>G (p.Ser141Ala) rs200475014 0.00006
NM_001351132.2(PEX5):c.643-17G>A rs372199869 0.00006
NM_001351132.2(PEX5):c.831C>T (p.Ala277=) rs747216258 0.00006
NM_001351132.2(PEX5):c.967-13G>A rs900261902 0.00006
NM_001351132.2(PEX5):c.1273A>G (p.Thr425Ala) rs141202824 0.00005
NM_001351132.2(PEX5):c.1549G>A (p.Val517Ile) rs201596535 0.00005
NM_001351132.2(PEX5):c.1777C>T (p.Arg593Trp) rs144333076 0.00005
NM_001351132.2(PEX5):c.642+19C>G rs759232327 0.00005
NM_001351132.2(PEX5):c.966+5G>A rs199705127 0.00005
NM_001351132.2(PEX5):c.967-15G>A rs201341037 0.00005
NM_001351132.2(PEX5):c.1033C>T (p.Arg345Cys) rs199822160 0.00004
NM_001351132.2(PEX5):c.1280G>A (p.Arg427Gln) rs774915360 0.00004
NM_001351132.2(PEX5):c.1352G>A (p.Gly451Glu) rs148266027 0.00004
NM_001351132.2(PEX5):c.1561-20G>A rs753353124 0.00004
NM_001351132.2(PEX5):c.1640G>A (p.Arg547Gln) rs371462892 0.00004
NM_001351132.2(PEX5):c.1695C>T (p.Ser565=) rs755547376 0.00004
NM_001351132.2(PEX5):c.1768C>T (p.Arg590Trp) rs139347001 0.00004
NM_001351132.2(PEX5):c.1823G>A (p.Arg608His) rs201158549 0.00004
NM_001351132.2(PEX5):c.1874C>T (p.Ala625Val) rs773854263 0.00004
NM_001351132.2(PEX5):c.1890C>T (p.Thr630=) rs779933516 0.00004
NM_001351132.2(PEX5):c.415G>C (p.Asp139His) rs375689941 0.00004
NM_001351132.2(PEX5):c.449-8C>T rs771181829 0.00004
NM_001351132.2(PEX5):c.455T>G (p.Leu152Trp) rs370913045 0.00004
NM_001351132.2(PEX5):c.543C>T (p.Thr181=) rs138205085 0.00004
NM_001351132.2(PEX5):c.550T>C (p.Trp184Arg) rs998840500 0.00004
NM_001351132.2(PEX5):c.551+13A>C rs372527455 0.00004
NM_001351132.2(PEX5):c.753+20C>T rs975426592 0.00004
NM_001351132.2(PEX5):c.1181+9A>G rs774173665 0.00003
NM_001351132.2(PEX5):c.1279C>T (p.Arg427Ter) rs61752137 0.00003
NM_001351132.2(PEX5):c.1333G>C (p.Glu445Gln) rs1405389869 0.00003
NM_001351132.2(PEX5):c.1493T>G (p.Phe498Cys) rs772579298 0.00003
NM_001351132.2(PEX5):c.156G>A (p.Lys52=) rs1374555547 0.00003
NM_001351132.2(PEX5):c.1637G>A (p.Arg546His) rs375588538 0.00003
NM_001351132.2(PEX5):c.1858T>C (p.Tyr620His) rs141242661 0.00003
NM_001351132.2(PEX5):c.1876C>T (p.Arg626Trp) rs148040746 0.00003
NM_001351132.2(PEX5):c.317-6T>C rs755945291 0.00003
NM_001351132.2(PEX5):c.473G>A (p.Arg158His) rs140456601 0.00003
NM_001351132.2(PEX5):c.492G>A (p.Leu164=) rs779720569 0.00003
NM_001351132.2(PEX5):c.551+15C>T rs886049825 0.00003
NM_001351132.2(PEX5):c.552-18_552-17insCCC rs1385408187 0.00003
NM_001351132.2(PEX5):c.552-3C>T rs368653314 0.00003
NM_001351132.2(PEX5):c.693C>T (p.Ser231=) rs140332077 0.00003
NM_001351132.2(PEX5):c.957C>T (p.Thr319=) rs1208975053 0.00003
NM_001351132.2(PEX5):c.1080A>T (p.Ala360=) rs776221090 0.00002
NM_001351132.2(PEX5):c.1111-4C>G rs376699778 0.00002
NM_001351132.2(PEX5):c.115C>G (p.Pro39Ala) rs751937990 0.00002
NM_001351132.2(PEX5):c.1211C>T (p.Thr404Ile) rs751774861 0.00002
NM_001351132.2(PEX5):c.1259G>A (p.Arg420Gln) rs765532002 0.00002
NM_001351132.2(PEX5):c.1365C>A (p.Ser455Arg) rs1383386030 0.00002
NM_001351132.2(PEX5):c.1369C>T (p.Arg457Cys) rs199544306 0.00002
NM_001351132.2(PEX5):c.1394+14G>T rs756329980 0.00002
NM_001351132.2(PEX5):c.1395-7C>T rs771862091 0.00002
NM_001351132.2(PEX5):c.148-7C>T rs1295383488 0.00002
NM_001351132.2(PEX5):c.155A>G (p.Lys52Arg) rs764700965 0.00002
NM_001351132.2(PEX5):c.1607A>G (p.Asn536Ser) rs749417845 0.00002
NM_001351132.2(PEX5):c.164G>T (p.Gly55Val) rs752097814 0.00002
NM_001351132.2(PEX5):c.1677C>T (p.Arg559=) rs756477662 0.00002
NM_001351132.2(PEX5):c.1769G>A (p.Arg590Gln) rs779049461 0.00002
NM_001351132.2(PEX5):c.1837A>G (p.Met613Val) rs765623850 0.00002
NM_001351132.2(PEX5):c.1900A>G (p.Met634Val) rs766669738 0.00002
NM_001351132.2(PEX5):c.273G>T (p.Met91Ile) rs761240813 0.00002
NM_001351132.2(PEX5):c.299G>A (p.Arg100His) rs757108771 0.00002
NM_001351132.2(PEX5):c.318C>T (p.Ala106=) rs149185061 0.00002
NM_001351132.2(PEX5):c.406A>G (p.Asn136Asp) rs766587819 0.00002
NM_001351132.2(PEX5):c.523G>A (p.Glu175Lys) rs1259114034 0.00002
NM_001351132.2(PEX5):c.527C>T (p.Pro176Leu) rs145613325 0.00002
NM_001351132.2(PEX5):c.551+14C>T rs375606946 0.00002
NM_001351132.2(PEX5):c.591G>A (p.Thr197=) rs146024341 0.00002
NM_001351132.2(PEX5):c.63C>T (p.Ala21=) rs374590365 0.00002
NM_001351132.2(PEX5):c.642+16C>T rs768913130 0.00002
NM_001351132.2(PEX5):c.664A>G (p.Ile222Val) rs778800705 0.00002
NM_001351132.2(PEX5):c.689A>C (p.Glu230Ala) rs140292053 0.00002
NM_001351132.2(PEX5):c.69C>T (p.His23=) rs976676879 0.00002
NM_001351132.2(PEX5):c.704C>T (p.Ser235Leu) rs752922748 0.00002
NM_001351132.2(PEX5):c.718G>C (p.Ala240Pro) rs778767381 0.00002
NM_001351132.2(PEX5):c.754-17A>G rs779717442 0.00002
NM_001351132.2(PEX5):c.75C>T (p.Thr25=) rs770949712 0.00002
NM_001351132.2(PEX5):c.83A>G (p.Lys28Arg) rs759345862 0.00002
NM_001351132.2(PEX5):c.901C>T (p.Arg301Trp) rs767306549 0.00002
NM_001351132.2(PEX5):c.909T>C (p.Ala303=) rs376649488 0.00002
NM_001351132.2(PEX5):c.920C>T (p.Pro307Leu) rs1159586988 0.00002
NM_001351132.2(PEX5):c.966+18_966+19dup rs781032142 0.00002
NM_001351132.2(PEX5):c.967-16C>T rs764842874 0.00002
NM_001351132.2(PEX5):c.1031G>A (p.Arg344Gln) rs892031813 0.00001
NM_001351132.2(PEX5):c.1044G>T (p.Glu348Asp) rs746001175 0.00001
NM_001351132.2(PEX5):c.1052T>C (p.Leu351Pro) rs1220028381 0.00001
NM_001351132.2(PEX5):c.1057A>G (p.Asn353Asp) rs971400240 0.00001
NM_001351132.2(PEX5):c.1059T>C (p.Asn353=) rs775565970 0.00001
NM_001351132.2(PEX5):c.1097C>T (p.Pro366Leu) rs764934631 0.00001
NM_001351132.2(PEX5):c.1110+18C>T rs375982509 0.00001
NM_001351132.2(PEX5):c.1110+20C>T rs1163912133 0.00001
NM_001351132.2(PEX5):c.1111-12A>G rs371599161 0.00001
NM_001351132.2(PEX5):c.1119G>A (p.Gln373=) rs369840046 0.00001
NM_001351132.2(PEX5):c.1134C>A (p.Thr378=) rs142895892 0.00001
NM_001351132.2(PEX5):c.114C>T (p.Gly38=) rs1275188316 0.00001
NM_001351132.2(PEX5):c.1182-13C>T rs767049899 0.00001
NM_001351132.2(PEX5):c.121C>T (p.Pro41Ser) rs781410836 0.00001
NM_001351132.2(PEX5):c.1223C>T (p.Ala408Val) rs1218031120 0.00001
NM_001351132.2(PEX5):c.1255C>T (p.Gln419Ter) rs1300934931 0.00001
NM_001351132.2(PEX5):c.1258C>T (p.Arg420Ter) rs777735499 0.00001
NM_001351132.2(PEX5):c.1288C>T (p.Leu430=) rs1399663676 0.00001
NM_001351132.2(PEX5):c.1291C>T (p.Arg431Trp) rs765682048 0.00001
NM_001351132.2(PEX5):c.1292G>A (p.Arg431Gln) rs144901507 0.00001
NM_001351132.2(PEX5):c.1293G>A (p.Arg431=) rs1242502801 0.00001
NM_001351132.2(PEX5):c.131C>G (p.Ala44Gly) rs372992555 0.00001
NM_001351132.2(PEX5):c.1347G>C (p.Gly449=) rs778715159 0.00001
NM_001351132.2(PEX5):c.1357G>A (p.Gly453Ser) rs1190413911 0.00001
NM_001351132.2(PEX5):c.1370G>A (p.Arg457His) rs758827048 0.00001
NM_001351132.2(PEX5):c.1375C>G (p.Leu459Val) rs375947901 0.00001
NM_001351132.2(PEX5):c.1394+13G>A rs766780389 0.00001
NM_001351132.2(PEX5):c.1394+15T>C rs1439543112 0.00001
NM_001351132.2(PEX5):c.1430C>A (p.Ala477Glu) rs779806201 0.00001
NM_001351132.2(PEX5):c.1464T>C (p.Pro488=) rs1308021155 0.00001
NM_001351132.2(PEX5):c.148-18T>G rs1208254383 0.00001
NM_001351132.2(PEX5):c.149C>T (p.Ala50Val) rs1311355339 0.00001
NM_001351132.2(PEX5):c.1513G>A (p.Asp505Asn) rs775935095 0.00001
NM_001351132.2(PEX5):c.1545C>T (p.Leu515=) rs762815657 0.00001
NM_001351132.2(PEX5):c.1560+12G>A rs375427005 0.00001
NM_001351132.2(PEX5):c.1560+19T>A rs772671180 0.00001
NM_001351132.2(PEX5):c.1560T>C (p.Asn520=) rs140330381 0.00001
NM_001351132.2(PEX5):c.1639C>T (p.Arg547Trp) rs760402644 0.00001
NM_001351132.2(PEX5):c.1644C>T (p.Ala548=) rs920189030 0.00001
NM_001351132.2(PEX5):c.1664A>G (p.Tyr555Cys) rs1169699895 0.00001
NM_001351132.2(PEX5):c.1665T>C (p.Tyr555=) rs781643068 0.00001
NM_001351132.2(PEX5):c.1669C>T (p.Arg557Trp) rs1281539463 0.00001
NM_001351132.2(PEX5):c.1718+6A>C rs764840661 0.00001
NM_001351132.2(PEX5):c.1718G>A (p.Arg573Gln) rs776481733 0.00001
NM_001351132.2(PEX5):c.1737T>C (p.Phe579=) rs753159772 0.00001
NM_001351132.2(PEX5):c.1752C>T (p.Asn584=) rs1165878236 0.00001
NM_001351132.2(PEX5):c.1790G>A (p.Gly597Asp) rs772805558 0.00001
NM_001351132.2(PEX5):c.17T>C (p.Leu6Pro) rs1245227342 0.00001
NM_001351132.2(PEX5):c.1806C>T (p.Asn602=) rs1414114941 0.00001
NM_001351132.2(PEX5):c.1822C>T (p.Arg608Cys) rs372635542 0.00001
NM_001351132.2(PEX5):c.183+13G>C rs1466902104 0.00001
NM_001351132.2(PEX5):c.183+15C>T rs1044102845 0.00001
NM_001351132.2(PEX5):c.1831T>G (p.Leu611Val) rs200266963 0.00001
NM_001351132.2(PEX5):c.1851C>T (p.Ser617=) rs755085818 0.00001
NM_001351132.2(PEX5):c.1870G>A (p.Asp624Asn) rs201963167 0.00001
NM_001351132.2(PEX5):c.1877G>A (p.Arg626Gln) rs762252851 0.00001
NM_001351132.2(PEX5):c.205G>A (p.Asp69Asn) rs1941048067 0.00001
NM_001351132.2(PEX5):c.216A>G (p.Ala72=) rs1941051265 0.00001
NM_001351132.2(PEX5):c.228C>T (p.Ser76=) rs968979207 0.00001
NM_001351132.2(PEX5):c.241A>T (p.Thr81Ser) rs769373976 0.00001
NM_001351132.2(PEX5):c.28G>A (p.Glu10Lys) rs747725502 0.00001
NM_001351132.2(PEX5):c.292A>G (p.Asn98Asp) rs374327439 0.00001
NM_001351132.2(PEX5):c.316+15T>C rs755789392 0.00001
NM_001351132.2(PEX5):c.345T>C (p.Ser115=) rs1326887485 0.00001
NM_001351132.2(PEX5):c.34G>A (p.Gly12Arg) rs398123571 0.00001
NM_001351132.2(PEX5):c.351C>G (p.Asn117Lys) rs1354610463 0.00001
NM_001351132.2(PEX5):c.368T>C (p.Leu123Pro) rs777324636 0.00001
NM_001351132.2(PEX5):c.381T>C (p.Asp127=) rs201467035 0.00001
NM_001351132.2(PEX5):c.38G>T (p.Gly13Val) rs1940802625 0.00001
NM_001351132.2(PEX5):c.41C>T (p.Ala14Val) rs768332537 0.00001
NM_001351132.2(PEX5):c.431T>G (p.Phe144Cys) rs1175995959 0.00001
NM_001351132.2(PEX5):c.449-10C>T rs749619215 0.00001
NM_001351132.2(PEX5):c.449-17T>C rs1231533366 0.00001
NM_001351132.2(PEX5):c.547C>T (p.Arg183Cys) rs746104983 0.00001
NM_001351132.2(PEX5):c.548G>A (p.Arg183His) rs772215584 0.00001
NM_001351132.2(PEX5):c.551+9A>G rs1163805891 0.00001
NM_001351132.2(PEX5):c.552-8C>T rs766250063 0.00001
NM_001351132.2(PEX5):c.552-9C>A rs762893506 0.00001
NM_001351132.2(PEX5):c.568C>T (p.Pro190Ser) rs1410451415 0.00001
NM_001351132.2(PEX5):c.583C>T (p.Gln195Ter) rs890363450 0.00001
NM_001351132.2(PEX5):c.620A>G (p.Asp207Gly) rs1011160954 0.00001
NM_001351132.2(PEX5):c.663G>A (p.Gln221=) rs886043565 0.00001
NM_001351132.2(PEX5):c.667G>A (p.Gly223Ser) rs771879452 0.00001
NM_001351132.2(PEX5):c.681G>A (p.Val227=) rs763452261 0.00001
NM_001351132.2(PEX5):c.684C>T (p.Ser228=) rs1234954632 0.00001
NM_001351132.2(PEX5):c.709C>T (p.Arg237Ter) rs777733574 0.00001
NM_001351132.2(PEX5):c.750G>C (p.Gln250His) rs1239267747 0.00001
NM_001351132.2(PEX5):c.753+13C>T rs747606192 0.00001
NM_001351132.2(PEX5):c.758C>T (p.Thr253Ile) rs747765156 0.00001
NM_001351132.2(PEX5):c.78G>C (p.Gln26His) rs1940818656 0.00001
NM_001351132.2(PEX5):c.800C>T (p.Thr267Ile) rs759083753 0.00001
NM_001351132.2(PEX5):c.801A>G (p.Thr267=) rs1243197291 0.00001
NM_001351132.2(PEX5):c.81C>T (p.Asp27=) rs398123572 0.00001
NM_001351132.2(PEX5):c.92G>A (p.Arg31Gln) rs190526209 0.00001
NM_001351132.2(PEX5):c.965A>T (p.Lys322Met) rs770028664 0.00001
NM_001351132.2(PEX5):c.966+9A>G rs1389020583 0.00001
NM_001351132.2(PEX5):c.967-3dup rs777815209 0.00001
NM_001351132.2(PEX5):c.990C>T (p.Asn330=) rs781775833 0.00001
NM_001351132.2(PEX5):c.991C>T (p.Pro331Ser) rs1311867918 0.00001
NM_001351132.2(PEX5):c.997C>T (p.Arg333Cys) rs756565648 0.00001
NM_001351132.2(PEX5):c.99G>A (p.Glu33=) rs753239589 0.00001
NC_000012.11:g.(?_6438458)_(7362839_?)dup
NC_000012.11:g.(?_6978008)_(9010204_?)dup
NC_000012.11:g.(?_7053285)_(9027607_?)del
NC_000012.11:g.(?_7342974)_(7362819_?)dup
NM_000033.4(ABCD1):c.664G>A (p.Val222Met)
NM_000287.4(PEX6):c.1220CCT[1] (p.Ser408del)
NM_001351132.2(PEX5):c.1011G>A (p.Gln337=) rs2136226738
NM_001351132.2(PEX5):c.102A>G (p.Gly34=)
NM_001351132.2(PEX5):c.102A>T (p.Gly34=) rs758936844
NM_001351132.2(PEX5):c.1037T>C (p.Leu346Pro) rs2136227054
NM_001351132.2(PEX5):c.103T>C (p.Leu35=) rs1314683233
NM_001351132.2(PEX5):c.1044G>A (p.Glu348=)
NM_001351132.2(PEX5):c.1047G>A (p.Gly349=) rs2136227217
NM_001351132.2(PEX5):c.1048G>A (p.Asp350Asn)
NM_001351132.2(PEX5):c.1051C>T (p.Leu351=)
NM_001351132.2(PEX5):c.1061C>G (p.Ala354Gly)
NM_001351132.2(PEX5):c.1065G>A (p.Val355=)
NM_001351132.2(PEX5):c.1077G>A (p.Glu359=)
NM_001351132.2(PEX5):c.107G>A (p.Arg36Lys) rs2135878731
NM_001351132.2(PEX5):c.107G>C (p.Arg36Thr) rs2135878731
NM_001351132.2(PEX5):c.1082C>G (p.Ala361Gly)
NM_001351132.2(PEX5):c.1092G>C (p.Gln364His)
NM_001351132.2(PEX5):c.1104C>T (p.His368=) rs758018152
NM_001351132.2(PEX5):c.1110+11C>T rs1214830979
NM_001351132.2(PEX5):c.1110+13A>G
NM_001351132.2(PEX5):c.1110+14T>C
NM_001351132.2(PEX5):c.1110+5G>A rs2136228030
NM_001351132.2(PEX5):c.1110+6_1110+7dup rs749390755
NM_001351132.2(PEX5):c.1110+8A>G
NM_001351132.2(PEX5):c.1110+9C>T
NM_001351132.2(PEX5):c.1111-14C>T
NM_001351132.2(PEX5):c.1111-18C>T rs1354941816
NM_001351132.2(PEX5):c.1111-19T>C
NM_001351132.2(PEX5):c.1111-4C>A
NM_001351132.2(PEX5):c.1111-6C>G
NM_001351132.2(PEX5):c.1111-7C>T
NM_001351132.2(PEX5):c.1111-8C>T
NM_001351132.2(PEX5):c.1113T>C (p.Ala371=) rs2136230382
NM_001351132.2(PEX5):c.1125G>C (p.Leu375=) rs762678346
NM_001351132.2(PEX5):c.1132A>G (p.Thr378Ala) rs2136230585
NM_001351132.2(PEX5):c.1134C>G (p.Thr378=)
NM_001351132.2(PEX5):c.113G>T (p.Gly38Val)
NM_001351132.2(PEX5):c.1143G>A (p.Glu381=) rs2136230701
NM_001351132.2(PEX5):c.1145A>G (p.Asn382Ser) rs2136230724
NM_001351132.2(PEX5):c.1151A>G (p.Gln384Arg) rs2136230787
NM_001351132.2(PEX5):c.1155A>G (p.Glu385=)
NM_001351132.2(PEX5):c.115C>T (p.Pro39Ser) rs751937990
NM_001351132.2(PEX5):c.1166_1168dup (p.Ile389dup) rs774781585
NM_001351132.2(PEX5):c.1173A>G (p.Ala391=) rs1045943718
NM_001351132.2(PEX5):c.1177C>T (p.Arg393Trp)
NM_001351132.2(PEX5):c.1181+16G>A
NM_001351132.2(PEX5):c.1181+19G>A
NM_001351132.2(PEX5):c.1181+20T>G rs1945041920
NM_001351132.2(PEX5):c.1181+4A>G rs2136231209
NM_001351132.2(PEX5):c.1182-12C>G
NM_001351132.2(PEX5):c.1182-12C>T
NM_001351132.2(PEX5):c.1182-6A>T rs1945095734
NM_001351132.2(PEX5):c.1182-8T>C
NM_001351132.2(PEX5):c.1182G>A (p.Arg394=) rs199624284
NM_001351132.2(PEX5):c.1182G>T (p.Arg394Ser) rs199624284
NM_001351132.2(PEX5):c.1185T>C (p.Cys395=)
NM_001351132.2(PEX5):c.1198C>T (p.Pro400Ser)
NM_001351132.2(PEX5):c.119G>A (p.Trp40Ter) rs2135879026
NM_001351132.2(PEX5):c.1201G>A (p.Asp401Asn) rs1945098580
NM_001351132.2(PEX5):c.1202A>G (p.Asp401Gly)
NM_001351132.2(PEX5):c.1206C>T (p.Asn402=)
NM_001351132.2(PEX5):c.120G>C (p.Trp40Cys) rs2135879116
NM_001351132.2(PEX5):c.1215A>G (p.Ala405=)
NM_001351132.2(PEX5):c.121C>A (p.Pro41Thr) rs781410836
NM_001351132.2(PEX5):c.1224G>A (p.Ala408=)
NM_001351132.2(PEX5):c.1229C>T (p.Ala410Val)
NM_001351132.2(PEX5):c.122C>A (p.Pro41His) rs772786048
NM_001351132.2(PEX5):c.122C>T (p.Pro41Leu) rs772786048
NM_001351132.2(PEX5):c.1239C>T (p.Phe413=)
NM_001351132.2(PEX5):c.1241C>T (p.Thr414Ile) rs1458919607
NM_001351132.2(PEX5):c.1246G>A (p.Glu416Lys) rs1945105117
NM_001351132.2(PEX5):c.1248G>A (p.Glu416=) rs2136236014
NM_001351132.2(PEX5):c.124C>G (p.Pro42Ala) rs2135879394
NM_001351132.2(PEX5):c.1251C>G (p.Ser417=)
NM_001351132.2(PEX5):c.1252C>A (p.Leu418Met) rs2136236124
NM_001351132.2(PEX5):c.1254G>C (p.Leu418=) rs989783550
NM_001351132.2(PEX5):c.1254G>T (p.Leu418=)
NM_001351132.2(PEX5):c.125C>G (p.Pro42Arg)
NM_001351132.2(PEX5):c.1264dup (p.Ala422fs) rs1374334296
NM_001351132.2(PEX5):c.1265C>T (p.Ala422Val) rs1945109944
NM_001351132.2(PEX5):c.1266C>T (p.Ala422=)
NM_001351132.2(PEX5):c.1267T>C (p.Cys423Arg) rs2136236516
NM_001351132.2(PEX5):c.126C>T (p.Pro42=) rs1199646327
NM_001351132.2(PEX5):c.1279dup (p.Arg427fs)
NM_001351132.2(PEX5):c.1280G>T (p.Arg427Leu) rs774915360
NM_001351132.2(PEX5):c.1282G>A (p.Asp428Asn)
NM_001351132.2(PEX5):c.1289T>C (p.Leu430Pro)
NM_001351132.2(PEX5):c.1299A>G (p.Thr433=)
NM_001351132.2(PEX5):c.12G>A (p.Arg4=)
NM_001351132.2(PEX5):c.1311C>T (p.Ala437=)
NM_001351132.2(PEX5):c.1312C>T (p.His438Tyr) rs2136237273
NM_001351132.2(PEX5):c.1315C>A (p.Leu439Met) rs756242143
NM_001351132.2(PEX5):c.1315C>T (p.Leu439=) rs756242143
NM_001351132.2(PEX5):c.1319_1320del (p.Val440fs)
NM_001351132.2(PEX5):c.131C>T (p.Ala44Val) rs372992555
NM_001351132.2(PEX5):c.1321A>G (p.Thr441Ala) rs2136237401
NM_001351132.2(PEX5):c.1322C>T (p.Thr441Ile) rs777898843
NM_001351132.2(PEX5):c.132C>G (p.Ala44=)
NM_001351132.2(PEX5):c.1338G>A (p.Gly446=) rs1359071852
NM_001351132.2(PEX5):c.133C>T (p.Pro45Ser) rs1379216235
NM_001351132.2(PEX5):c.134C>T (p.Pro45Leu) rs145649593
NM_001351132.2(PEX5):c.1355_1356del (p.Leu452fs)
NM_001351132.2(PEX5):c.1356G>C (p.Leu452=) rs1945126491
NM_001351132.2(PEX5):c.135G>C (p.Pro45=) rs761885230
NM_001351132.2(PEX5):c.135_147+32del
NM_001351132.2(PEX5):c.135_147+33delinsC rs2135880243
NM_001351132.2(PEX5):c.1364G>A (p.Ser455Asn)
NM_001351132.2(PEX5):c.1368_1369insGG (p.Arg457fs)
NM_001351132.2(PEX5):c.1380A>T (p.Gly460=) rs2136238100
NM_001351132.2(PEX5):c.1384C>G (p.Leu462Val) rs774709242
NM_001351132.2(PEX5):c.1384C>T (p.Leu462Phe) rs774709242
NM_001351132.2(PEX5):c.1386C>G (p.Leu462=)
NM_001351132.2(PEX5):c.1388T>C (p.Leu463Ser) rs2136238274
NM_001351132.2(PEX5):c.1391C>T (p.Ser464Phe)
NM_001351132.2(PEX5):c.1392T>C (p.Ser464=) rs2136238346
NM_001351132.2(PEX5):c.1394+14dup rs1186018434
NM_001351132.2(PEX5):c.1394+18C>T rs148648526
NM_001351132.2(PEX5):c.1394+9del
NM_001351132.2(PEX5):c.1395-12C>G
NM_001351132.2(PEX5):c.1395-14T>C rs1945174737
NM_001351132.2(PEX5):c.1395-20T>G
NM_001351132.2(PEX5):c.1395-5T>C
NM_001351132.2(PEX5):c.1395C>T (p.Asp465=)
NM_001351132.2(PEX5):c.1398C>A (p.Ser466=)
NM_001351132.2(PEX5):c.1413G>A (p.Val471=) rs115760878
NM_001351132.2(PEX5):c.1413G>C (p.Val471=) rs115760878
NM_001351132.2(PEX5):c.1419G>A (p.Glu473=) rs1945181377
NM_001351132.2(PEX5):c.1419G>T (p.Glu473Asp) rs1945181377
NM_001351132.2(PEX5):c.1426C>T (p.Leu476=)
NM_001351132.2(PEX5):c.1426del (p.Leu476fs)
NM_001351132.2(PEX5):c.1438C>T (p.Arg480Trp)
NM_001351132.2(PEX5):c.1462C>A (p.Pro488Thr)
NM_001351132.2(PEX5):c.1462C>G (p.Pro488Ala)
NM_001351132.2(PEX5):c.1469_1470insAC (p.Gln491fs) rs2136243209
NM_001351132.2(PEX5):c.147+11T>A
NM_001351132.2(PEX5):c.147+13G>C
NM_001351132.2(PEX5):c.147+2T>G
NM_001351132.2(PEX5):c.147+32_147+121del
NM_001351132.2(PEX5):c.147+4A>G
NM_001351132.2(PEX5):c.147+55_147+56insGTGAGGTGGAAAGCCCAGGTGCAGCCTCTGAGGCAGTGAGTGTTC
NM_001351132.2(PEX5):c.147+6T>C rs2135881175
NM_001351132.2(PEX5):c.147+77_147+121del
NM_001351132.2(PEX5):c.1470G>A (p.Val490=) rs2136243242
NM_001351132.2(PEX5):c.1473G>A (p.Gln491=)
NM_001351132.2(PEX5):c.148-10T>C rs2135889432
NM_001351132.2(PEX5):c.148-13C>T
NM_001351132.2(PEX5):c.148-14T>C rs111277807
NM_001351132.2(PEX5):c.148-15_148-12del rs774517551
NM_001351132.2(PEX5):c.148-18T>C
NM_001351132.2(PEX5):c.148-19C>G
NM_001351132.2(PEX5):c.148-19C>T rs1487304617
NM_001351132.2(PEX5):c.148-20T>G
NM_001351132.2(PEX5):c.148-7del
NM_001351132.2(PEX5):c.1480T>C (p.Leu494=) rs1199150044
NM_001351132.2(PEX5):c.1482G>A (p.Leu494=) rs1591799831
NM_001351132.2(PEX5):c.1489C>A (p.Leu497Ile) rs2136243573
NM_001351132.2(PEX5):c.1491T>C (p.Leu497=)
NM_001351132.2(PEX5):c.1506G>A (p.Gly502=)
NM_001351132.2(PEX5):c.1512T>G (p.Tyr504Ter)
NM_001351132.2(PEX5):c.1513G>C (p.Asp505His)
NM_001351132.2(PEX5):c.1515C>T (p.Asp505=)
NM_001351132.2(PEX5):c.1521C>G (p.Ala507=)
NM_001351132.2(PEX5):c.1521_1527del (p.Val508fs) rs1731078730
NM_001351132.2(PEX5):c.1528T>A (p.Cys510Ser) rs1945199025
NM_001351132.2(PEX5):c.1530C>T (p.Cys510=) rs2136244291
NM_001351132.2(PEX5):c.1536A>C (p.Thr512=)
NM_001351132.2(PEX5):c.1536A>G (p.Thr512=)
NM_001351132.2(PEX5):c.153C>G (p.Ser51=)
NM_001351132.2(PEX5):c.1543C>G (p.Leu515Val) rs370984432
NM_001351132.2(PEX5):c.1552C>T (p.Arg518Cys) rs182028506
NM_001351132.2(PEX5):c.1553G>A (p.Arg518His) rs146183061
NM_001351132.2(PEX5):c.1560+10G>C
NM_001351132.2(PEX5):c.1560+6C>T rs1945208210
NM_001351132.2(PEX5):c.1560+7C>T
NM_001351132.2(PEX5):c.1561-14C>T
NM_001351132.2(PEX5):c.1561-15G>A
NM_001351132.2(PEX5):c.1561-2A>G rs2136254229
NM_001351132.2(PEX5):c.1561-3C>T
NM_001351132.2(PEX5):c.1561-5C>G
NM_001351132.2(PEX5):c.1561-6T>C
NM_001351132.2(PEX5):c.1565A>G (p.Tyr522Cys) rs1205322300
NM_001351132.2(PEX5):c.1572G>A (p.Leu524=)
NM_001351132.2(PEX5):c.1574G>A (p.Trp525Ter) rs2136254746
NM_001351132.2(PEX5):c.1578T>A (p.Asn526Lys)
NM_001351132.2(PEX5):c.1578T>G (p.Asn526Lys) rs61752138
NM_001351132.2(PEX5):c.1582C>G (p.Leu528Val)
NM_001351132.2(PEX5):c.1588G>A (p.Ala530Thr) rs1591804566
NM_001351132.2(PEX5):c.1592C>A (p.Thr531Asn) rs1945293420
NM_001351132.2(PEX5):c.1593C>G (p.Thr531=)
NM_001351132.2(PEX5):c.15G>A (p.Glu5=) rs2135875866
NM_001351132.2(PEX5):c.1607del (p.Asn536fs)
NM_001351132.2(PEX5):c.1610A>G (p.Gln537Arg)
NM_001351132.2(PEX5):c.1611G>C (p.Gln537His)
NM_001351132.2(PEX5):c.1618G>A (p.Glu540Lys) rs977141805
NM_001351132.2(PEX5):c.1619A>G (p.Glu540Gly) rs1460981277
NM_001351132.2(PEX5):c.1620A>C (p.Glu540Asp)
NM_001351132.2(PEX5):c.1629T>C (p.Ala543=) rs2136255855
NM_001351132.2(PEX5):c.1631C>T (p.Ala544Val)
NM_001351132.2(PEX5):c.1632G>C (p.Ala544=) rs115338343
NM_001351132.2(PEX5):c.1632G>T (p.Ala544=) rs115338343
NM_001351132.2(PEX5):c.1651C>T (p.Leu551Phe) rs2136256584
NM_001351132.2(PEX5):c.1653C>T (p.Leu551=) rs200215904
NM_001351132.2(PEX5):c.1656G>T (p.Gln552His)
NM_001351132.2(PEX5):c.1660G>A (p.Gly554Ser)
NM_001351132.2(PEX5):c.1668C>T (p.Ile556=)
NM_001351132.2(PEX5):c.1670G>A (p.Arg557Gln)
NM_001351132.2(PEX5):c.1674C>T (p.Ser558=)
NM_001351132.2(PEX5):c.1675C>T (p.Arg559Cys)
NM_001351132.2(PEX5):c.1679A>G (p.Tyr560Cys)
NM_001351132.2(PEX5):c.1684C>G (p.Leu562Val) rs1945310790
NM_001351132.2(PEX5):c.1684C>T (p.Leu562=)
NM_001351132.2(PEX5):c.1686G>A (p.Leu562=)
NM_001351132.2(PEX5):c.1687G>T (p.Gly563Cys)
NM_001351132.2(PEX5):c.168A>G (p.Val56=)
NM_001351132.2(PEX5):c.1690A>G (p.Ile564Val) rs778897851
NM_001351132.2(PEX5):c.1691T>C (p.Ile564Thr) rs1945312349
NM_001351132.2(PEX5):c.1704C>T (p.Asn568=)
NM_001351132.2(PEX5):c.1708G>A (p.Gly570Arg)
NM_001351132.2(PEX5):c.170C>T (p.Ala57Val)
NM_001351132.2(PEX5):c.1713T>G (p.Ala571=)
NM_001351132.2(PEX5):c.1717C>T (p.Arg573Trp)
NM_001351132.2(PEX5):c.1718+11_1718+14del rs749232654
NM_001351132.2(PEX5):c.1718+11_1718+14dup rs749232654
NM_001351132.2(PEX5):c.1718+18G>C
NM_001351132.2(PEX5):c.1718+19A>G
NM_001351132.2(PEX5):c.1718+5G>A rs1085307998
NM_001351132.2(PEX5):c.1718+7G>A
NM_001351132.2(PEX5):c.1718+8T>G
NM_001351132.2(PEX5):c.1718+9A>G rs1945321190
NM_001351132.2(PEX5):c.1718+9_1718+10del rs1276135396
NM_001351132.2(PEX5):c.1718+9_1718+11dup
NM_001351132.2(PEX5):c.1719-10T>G
NM_001351132.2(PEX5):c.1719-10_1719-8del rs1244659564
NM_001351132.2(PEX5):c.1719-13T>C rs1441424289
NM_001351132.2(PEX5):c.1719-4A>T
NM_001351132.2(PEX5):c.1719-7del
NM_001351132.2(PEX5):c.1728G>A (p.Val576=)
NM_001351132.2(PEX5):c.1740G>A (p.Leu580=) rs2136262978
NM_001351132.2(PEX5):c.1744G>T (p.Ala582Ser) rs2136263113
NM_001351132.2(PEX5):c.1746C>T (p.Ala582=) rs1565723752
NM_001351132.2(PEX5):c.1767C>T (p.Ser589=)
NM_001351132.2(PEX5):c.1768C>A (p.Arg590=)
NM_001351132.2(PEX5):c.1769G>C (p.Arg590Pro)
NM_001351132.2(PEX5):c.1773C>A (p.Gly591=)
NM_001351132.2(PEX5):c.1776C>G (p.Pro592=)
NM_001351132.2(PEX5):c.1777C>A (p.Arg593=)
NM_001351132.2(PEX5):c.1778G>C (p.Arg593Pro)
NM_001351132.2(PEX5):c.1782T>C (p.Gly594=)
NM_001351132.2(PEX5):c.1794C>T (p.Ala598=) rs778329472
NM_001351132.2(PEX5):c.1799C>T (p.Ser600Leu) rs748956654
NM_001351132.2(PEX5):c.1809C>T (p.Ile603=)
NM_001351132.2(PEX5):c.1811G>A (p.Trp604Ter)
NM_001351132.2(PEX5):c.1815C>T (p.Ser605=)
NM_001351132.2(PEX5):c.1819C>G (p.Leu607Val) rs1945371383
NM_001351132.2(PEX5):c.1821G>C (p.Leu607=)
NM_001351132.2(PEX5):c.182A>G (p.Glu61Gly)
NM_001351132.2(PEX5):c.183+12A>C rs2135890525
NM_001351132.2(PEX5):c.183+13G>A
NM_001351132.2(PEX5):c.183+15C>A rs1044102845
NM_001351132.2(PEX5):c.183+15C>G
NM_001351132.2(PEX5):c.183+16T>C
NM_001351132.2(PEX5):c.183+17C>A
NM_001351132.2(PEX5):c.183+4A>G rs2135890266
NM_001351132.2(PEX5):c.183+6T>G rs1296968716
NM_001351132.2(PEX5):c.183+7A>G
NM_001351132.2(PEX5):c.183+8G>C
NM_001351132.2(PEX5):c.183+9A>G
NM_001351132.2(PEX5):c.1835C>G (p.Ser612Cys)
NM_001351132.2(PEX5):c.1839G>A (p.Met613Ile) rs750620715
NM_001351132.2(PEX5):c.183G>A (p.Glu61=)
NM_001351132.2(PEX5):c.184-16A>C
NM_001351132.2(PEX5):c.184-17C>T
NM_001351132.2(PEX5):c.184-20C>A
NM_001351132.2(PEX5):c.184-4del
NM_001351132.2(PEX5):c.184-8T>A
NM_001351132.2(PEX5):c.184-9T>G
NM_001351132.2(PEX5):c.1845C>A (p.Gly615=)
NM_001351132.2(PEX5):c.1850G>C (p.Ser617Thr) rs751637149
NM_001351132.2(PEX5):c.1850G>T (p.Ser617Ile) rs751637149
NM_001351132.2(PEX5):c.1852G>A (p.Asp618Asn)
NM_001351132.2(PEX5):c.1859A>G (p.Tyr620Cys) rs2136266140
NM_001351132.2(PEX5):c.1863G>A (p.Gly621=)
NM_001351132.2(PEX5):c.1866_1868del (p.Ala623del)
NM_001351132.2(PEX5):c.1874C>A (p.Ala625Glu)
NM_001351132.2(PEX5):c.1877_1915dup (p.Pro638_Gln639insArgAspLeuSerThrLeuLeuThrMetPheGlyLeuPro)
NM_001351132.2(PEX5):c.1887C>T (p.Ser629=)
NM_001351132.2(PEX5):c.1897_1900del (p.Thr633fs) rs1183517073
NM_001351132.2(PEX5):c.1901T>G (p.Met634Arg) rs751798701
NM_001351132.2(PEX5):c.1903_1906del (p.Phe635fs)
NM_001351132.2(PEX5):c.1909C>T (p.Leu637=) rs2136267479
NM_001351132.2(PEX5):c.1913C>G (p.Pro638Arg) rs138706552
NM_001351132.2(PEX5):c.1913C>T (p.Pro638Leu) rs138706552
NM_001351132.2(PEX5):c.1914C>T (p.Pro638=)
NM_001351132.2(PEX5):c.1917G>C (p.Gln639His) rs1271426444
NM_001351132.2(PEX5):c.192T>C (p.Ala64=)
NM_001351132.2(PEX5):c.196T>C (p.Phe66Leu) rs757539708
NM_001351132.2(PEX5):c.1A>G (p.Met1Val) rs2135875571
NM_001351132.2(PEX5):c.206A>C (p.Asp69Ala) rs2135896856
NM_001351132.2(PEX5):c.20T>C (p.Val7Ala)
NM_001351132.2(PEX5):c.218C>G (p.Pro73Arg)
NM_001351132.2(PEX5):c.219C>A (p.Pro73=)
NM_001351132.2(PEX5):c.224T>C (p.Val75Ala) rs1941053816
NM_001351132.2(PEX5):c.225G>C (p.Val75=) rs1941054422
NM_001351132.2(PEX5):c.229C>T (p.Arg77Cys) rs768373250
NM_001351132.2(PEX5):c.230G>C (p.Arg77Pro)
NM_001351132.2(PEX5):c.231T>C (p.Arg77=)
NM_001351132.2(PEX5):c.232G>A (p.Ala78Thr)
NM_001351132.2(PEX5):c.234C>T (p.Ala78=)
NM_001351132.2(PEX5):c.237T>G (p.Pro79=)
NM_001351132.2(PEX5):c.241A>G (p.Thr81Ala)
NM_001351132.2(PEX5):c.242C>T (p.Thr81Ile)
NM_001351132.2(PEX5):c.243C>T (p.Thr81=)
NM_001351132.2(PEX5):c.24G>T (p.Glu8Asp) rs1488661702
NM_001351132.2(PEX5):c.254A>G (p.Asp85Gly) rs768652769
NM_001351132.2(PEX5):c.257A>T (p.Asp86Val)
NM_001351132.2(PEX5):c.261C>T (p.Leu87=)
NM_001351132.2(PEX5):c.262C>T (p.Leu88=)
NM_001351132.2(PEX5):c.266C>T (p.Ala89Val)
NM_001351132.2(PEX5):c.267T>C (p.Ala89=)
NM_001351132.2(PEX5):c.279G>A (p.Gln93=)
NM_001351132.2(PEX5):c.282T>A (p.Ile94=)
NM_001351132.2(PEX5):c.285G>A (p.Glu95=)
NM_001351132.2(PEX5):c.287A>G (p.Gln96Arg)
NM_001351132.2(PEX5):c.28G>C (p.Glu10Gln) rs747725502
NM_001351132.2(PEX5):c.292A>C (p.Asn98His) rs374327439
NM_001351132.2(PEX5):c.297C>A (p.Phe99Leu) rs573650362
NM_001351132.2(PEX5):c.297C>T (p.Phe99=)
NM_001351132.2(PEX5):c.300C>T (p.Arg100=)
NM_001351132.2(PEX5):c.30del (p.Glu10fs)
NM_001351132.2(PEX5):c.315A>C (p.Arg105Ser) rs2135899269
NM_001351132.2(PEX5):c.316+11A>G
NM_001351132.2(PEX5):c.316+14C>G
NM_001351132.2(PEX5):c.316+16A>C
NM_001351132.2(PEX5):c.316+19G>A
NM_001351132.2(PEX5):c.316+9A>C
NM_001351132.2(PEX5):c.317-10C>T
NM_001351132.2(PEX5):c.317-11_317-10insGT rs779639697
NM_001351132.2(PEX5):c.317-16C>G
NM_001351132.2(PEX5):c.317-16C>T
NM_001351132.2(PEX5):c.317-18C>G
NM_001351132.2(PEX5):c.317-18C>T
NM_001351132.2(PEX5):c.317-19TC[4]
NM_001351132.2(PEX5):c.317-19TC[5] rs745564890
NM_001351132.2(PEX5):c.317-19TC[7]
NM_001351132.2(PEX5):c.317-20T>C
NM_001351132.2(PEX5):c.317-2A>G rs2135903939
NM_001351132.2(PEX5):c.32G>A (p.Cys11Tyr)
NM_001351132.2(PEX5):c.330A>C (p.Ala110=)
NM_001351132.2(PEX5):c.339C>G (p.Ala113=)
NM_001351132.2(PEX5):c.339C>T (p.Ala113=)
NM_001351132.2(PEX5):c.33C>T (p.Cys11=)
NM_001351132.2(PEX5):c.340T>C (p.Leu114=)
NM_001351132.2(PEX5):c.345T>G (p.Ser115=)
NM_001351132.2(PEX5):c.348G>A (p.Glu116=)
NM_001351132.2(PEX5):c.358C>T (p.Gln120Ter) rs1941140792
NM_001351132.2(PEX5):c.359A>G (p.Gln120Arg) rs1347906263
NM_001351132.2(PEX5):c.361G>T (p.Glu121Ter) rs1565673352
NM_001351132.2(PEX5):c.36G>A (p.Gly12=) rs1940801248
NM_001351132.2(PEX5):c.36G>C (p.Gly12=)
NM_001351132.2(PEX5):c.37G>A (p.Gly13Ser)
NM_001351132.2(PEX5):c.37G>C (p.Gly13Arg)
NM_001351132.2(PEX5):c.391G>T (p.Val131Leu)
NM_001351132.2(PEX5):c.393A>C (p.Val131=)
NM_001351132.2(PEX5):c.404A>G (p.Tyr135Cys) rs1385787688
NM_001351132.2(PEX5):c.404A>T (p.Tyr135Phe) rs1385787688
NM_001351132.2(PEX5):c.414T>A (p.Thr138=)
NM_001351132.2(PEX5):c.416_419del (p.Asp139fs)
NM_001351132.2(PEX5):c.417C>G (p.Asp139Glu)
NM_001351132.2(PEX5):c.417C>T (p.Asp139=)
NM_001351132.2(PEX5):c.42C>T (p.Ala14=) rs1940804674
NM_001351132.2(PEX5):c.437C>T (p.Ser146Phe)
NM_001351132.2(PEX5):c.448+12T>C
NM_001351132.2(PEX5):c.448+15G>A
NM_001351132.2(PEX5):c.448+18A>G
NM_001351132.2(PEX5):c.448+20A>G rs2135906489
NM_001351132.2(PEX5):c.448+7C>T
NM_001351132.2(PEX5):c.449-11G>C rs2136073420
NM_001351132.2(PEX5):c.449-11del
NM_001351132.2(PEX5):c.449-13C>T
NM_001351132.2(PEX5):c.449-14T>C rs1943225638
NM_001351132.2(PEX5):c.449-16T>C rs2136073334
NM_001351132.2(PEX5):c.44A>G (p.Asn15Ser) rs951795989
NM_001351132.2(PEX5):c.450C>T (p.Asp150=)
NM_001351132.2(PEX5):c.451C>T (p.Pro151Ser)
NM_001351132.2(PEX5):c.452C>T (p.Pro151Leu) rs200720523
NM_001351132.2(PEX5):c.464C>G (p.Ser155Cys) rs1943231620
NM_001351132.2(PEX5):c.466C>G (p.Pro156Ala) rs2136074053
NM_001351132.2(PEX5):c.468T>A (p.Pro156=)
NM_001351132.2(PEX5):c.472del (p.Arg158fs) rs2136074154
NM_001351132.2(PEX5):c.478del (p.Ala160fs)
NM_001351132.2(PEX5):c.48G>A (p.Pro16=) rs147958315
NM_001351132.2(PEX5):c.48G>C (p.Pro16=) rs147958315
NM_001351132.2(PEX5):c.498A>G (p.Gln166=) rs756714515
NM_001351132.2(PEX5):c.500C>G (p.Ser167Ter)
NM_001351132.2(PEX5):c.502GAG[1] (p.Glu169del) rs773404109
NM_001351132.2(PEX5):c.505G>C (p.Glu169Gln) rs1565693412
NM_001351132.2(PEX5):c.508_510del (p.Lys170del)
NM_001351132.2(PEX5):c.510G>A (p.Lys170=) rs1943242860
NM_001351132.2(PEX5):c.511C>T (p.Leu171=) rs1943243303
NM_001351132.2(PEX5):c.517C>A (p.Leu173Met) rs1943245558
NM_001351132.2(PEX5):c.517C>T (p.Leu173=)
NM_001351132.2(PEX5):c.519G>A (p.Leu173=)
NM_001351132.2(PEX5):c.531G>A (p.Glu177=)
NM_001351132.2(PEX5):c.531_534dup (p.Thr179fs) rs2136075415
NM_001351132.2(PEX5):c.533G>A (p.Gly178Glu) rs749729761
NM_001351132.2(PEX5):c.536C>T (p.Thr179Ile) rs2136075556
NM_001351132.2(PEX5):c.540C>T (p.Ala180=) rs2136075643
NM_001351132.2(PEX5):c.544G>A (p.Asp182Asn)
NM_001351132.2(PEX5):c.547C>A (p.Arg183Ser) rs746104983
NM_001351132.2(PEX5):c.54_69dup (p.Phe24fs)
NM_001351132.2(PEX5):c.551+10G>A rs1394539856
NM_001351132.2(PEX5):c.551+14_551+25del
NM_001351132.2(PEX5):c.551+17C>T
NM_001351132.2(PEX5):c.551+20T>C
NM_001351132.2(PEX5):c.551+8C>T rs775578165
NM_001351132.2(PEX5):c.551G>C (p.Trp184Ser)
NM_001351132.2(PEX5):c.552-10C>T
NM_001351132.2(PEX5):c.552-14C>A
NM_001351132.2(PEX5):c.552-1G>A rs1064793563
NM_001351132.2(PEX5):c.552-4C>T
NM_001351132.2(PEX5):c.552-7G>C
NM_001351132.2(PEX5):c.552-8del rs774656931
NM_001351132.2(PEX5):c.552G>A (p.Trp184Ter) rs1419213790
NM_001351132.2(PEX5):c.555T>A (p.Tyr185Ter)
NM_001351132.2(PEX5):c.556G>T (p.Asp186Tyr)
NM_001351132.2(PEX5):c.558T>C (p.Asp186=) rs995809384
NM_001351132.2(PEX5):c.561A>G (p.Glu187=) rs1159781502
NM_001351132.2(PEX5):c.564T>C (p.Tyr188=) rs2136142856
NM_001351132.2(PEX5):c.567T>C (p.His189=) rs1443546589
NM_001351132.2(PEX5):c.569C>T (p.Pro190Leu) rs2136143100
NM_001351132.2(PEX5):c.570T>C (p.Pro190=) rs767068406
NM_001351132.2(PEX5):c.573G>A (p.Glu191=)
NM_001351132.2(PEX5):c.579T>A (p.Asp193Glu)
NM_001351132.2(PEX5):c.57G>A (p.Lys19=) rs781336959
NM_001351132.2(PEX5):c.594C>T (p.Ala198=)
NM_001351132.2(PEX5):c.596G>A (p.Ser199Asn) rs750906889
NM_001351132.2(PEX5):c.606G>T (p.Val202=)
NM_001351132.2(PEX5):c.609C>T (p.Ala203=) rs747312170
NM_001351132.2(PEX5):c.60C>T (p.Leu20=)
NM_001351132.2(PEX5):c.618T>C (p.Asp206=) rs1232020173
NM_001351132.2(PEX5):c.620A>T (p.Asp207Val) rs1011160954
NM_001351132.2(PEX5):c.626A>G (p.Lys209Arg) rs748132358
NM_001351132.2(PEX5):c.62C>T (p.Ala21Val)
NM_001351132.2(PEX5):c.63C>G (p.Ala21=) rs374590365
NM_001351132.2(PEX5):c.642+12C>A rs2136144500
NM_001351132.2(PEX5):c.642+12C>T
NM_001351132.2(PEX5):c.642+13C>T
NM_001351132.2(PEX5):c.642+14C>T
NM_001351132.2(PEX5):c.642+18G>A rs1333391326
NM_001351132.2(PEX5):c.642+18dup
NM_001351132.2(PEX5):c.642+19C>T
NM_001351132.2(PEX5):c.642+20T>G
NM_001351132.2(PEX5):c.642+7del
NM_001351132.2(PEX5):c.642+8A>G
NM_001351132.2(PEX5):c.643-12T>C rs2136150492
NM_001351132.2(PEX5):c.643-20T>C
NM_001351132.2(PEX5):c.643-22TG[2] rs767919243
NM_001351132.2(PEX5):c.643-5C>T rs886049826
NM_001351132.2(PEX5):c.643-6C>T
NM_001351132.2(PEX5):c.645C>A (p.Phe215Leu) rs1944168456
NM_001351132.2(PEX5):c.651A>G (p.Lys217=) rs2136150959
NM_001351132.2(PEX5):c.654C>G (p.Phe218Leu)
NM_001351132.2(PEX5):c.654C>T (p.Phe218=) rs752935710
NM_001351132.2(PEX5):c.660G>A (p.Arg220=) rs541455903
NM_001351132.2(PEX5):c.669C>T (p.Gly223=)
NM_001351132.2(PEX5):c.670G>T (p.Glu224Ter)
NM_001351132.2(PEX5):c.672A>G (p.Glu224=)
NM_001351132.2(PEX5):c.674_695dup (p.Ser235fs) rs2136151586
NM_001351132.2(PEX5):c.678G>A (p.Gln226=)
NM_001351132.2(PEX5):c.692C>G (p.Ser231Cys)
NM_001351132.2(PEX5):c.693C>A (p.Ser231=)
NM_001351132.2(PEX5):c.694G>A (p.Gly232Ser)
NM_001351132.2(PEX5):c.695G>A (p.Gly232Asp)
NM_001351132.2(PEX5):c.698C>T (p.Ala233Val) rs2136152339
NM_001351132.2(PEX5):c.702G>T (p.Gly234=)
NM_001351132.2(PEX5):c.706G>C (p.Gly236Arg) rs2136152526
NM_001351132.2(PEX5):c.710G>A (p.Arg237Gln) rs1011369978
NM_001351132.2(PEX5):c.712G>T (p.Ala238Ser)
NM_001351132.2(PEX5):c.715C>T (p.Gln239Ter)
NM_001351132.2(PEX5):c.720A>C (p.Ala240=)
NM_001351132.2(PEX5):c.733G>A (p.Ala245Thr)
NM_001351132.2(PEX5):c.737_738del (p.Glu246fs)
NM_001351132.2(PEX5):c.738G>A (p.Glu246=)
NM_001351132.2(PEX5):c.740_743del (p.Phe247fs)
NM_001351132.2(PEX5):c.745C>G (p.Gln249Glu) rs1442020873
NM_001351132.2(PEX5):c.753+18T>A
NM_001351132.2(PEX5):c.753+19C>A
NM_001351132.2(PEX5):c.753+1G>A
NM_001351132.2(PEX5):c.753+2T>C
NM_001351132.2(PEX5):c.754-14C>A
NM_001351132.2(PEX5):c.754-18C>G
NM_001351132.2(PEX5):c.754-2A>C
NM_001351132.2(PEX5):c.754-4G>T rs111286659
NM_001351132.2(PEX5):c.754-8del
NM_001351132.2(PEX5):c.755G>A (p.Gly252Asp) rs1234343542
NM_001351132.2(PEX5):c.756T>C (p.Gly252=)
NM_001351132.2(PEX5):c.759A>G (p.Thr253=)
NM_001351132.2(PEX5):c.76C>T (p.Gln26Ter)
NM_001351132.2(PEX5):c.777C>T (p.Asp259=)
NM_001351132.2(PEX5):c.786A>G (p.Thr262=)
NM_001351132.2(PEX5):c.793G>A (p.Val265Ile) rs776020873
NM_001351132.2(PEX5):c.799A>T (p.Thr267Ser) rs1445974761
NM_001351132.2(PEX5):c.79G>T (p.Asp27Tyr) rs1940819292
NM_001351132.2(PEX5):c.807C>T (p.Ala269=)
NM_001351132.2(PEX5):c.808C>T (p.Leu270Phe) rs2136158729
NM_001351132.2(PEX5):c.808dup (p.Leu270fs) rs2136158689
NM_001351132.2(PEX5):c.80A>G (p.Asp27Gly) rs2135877981
NM_001351132.2(PEX5):c.822T>A (p.Phe274Leu)
NM_001351132.2(PEX5):c.826C>T (p.Arg276Ter)
NM_001351132.2(PEX5):c.82_83insT (p.Lys28fs)
NM_001351132.2(PEX5):c.831C>A (p.Ala277=) rs747216258
NM_001351132.2(PEX5):c.834G>A (p.Lys278=)
NM_001351132.2(PEX5):c.837A>G (p.Ser279=) rs2136159396
NM_001351132.2(PEX5):c.843A>C (p.Ile281=) rs1340349823
NM_001351132.2(PEX5):c.845A>C (p.Glu282Ala)
NM_001351132.2(PEX5):c.846+12T>C
NM_001351132.2(PEX5):c.846+14G>T
NM_001351132.2(PEX5):c.846+15T>A
NM_001351132.2(PEX5):c.846+15T>G
NM_001351132.2(PEX5):c.846+16G>T
NM_001351132.2(PEX5):c.846+19G>A
NM_001351132.2(PEX5):c.846+5G>A
NM_001351132.2(PEX5):c.846G>T (p.Glu282Asp) rs2136159660
NM_001351132.2(PEX5):c.847-11C>T
NM_001351132.2(PEX5):c.847-2A>G
NM_001351132.2(PEX5):c.847-7_861del
NM_001351132.2(PEX5):c.847-9T>C
NM_001351132.2(PEX5):c.848C>G (p.Ser283Cys) rs370010815
NM_001351132.2(PEX5):c.848C>T (p.Ser283Phe) rs370010815
NM_001351132.2(PEX5):c.855C>T (p.Val285=)
NM_001351132.2(PEX5):c.856G>A (p.Asp286Asn) rs1246877750
NM_001351132.2(PEX5):c.878C>G (p.Ala293Gly) rs1216991743
NM_001351132.2(PEX5):c.88del (p.Leu30fs)
NM_001351132.2(PEX5):c.893T>C (p.Met298Thr)
NM_001351132.2(PEX5):c.897A>G (p.Ala299=)
NM_001351132.2(PEX5):c.901C>G (p.Arg301Gly) rs767306549
NM_001351132.2(PEX5):c.902G>A (p.Arg301Gln) rs2136175132
NM_001351132.2(PEX5):c.912G>A (p.Glu304=)
NM_001351132.2(PEX5):c.915C>T (p.Ala305=)
NM_001351132.2(PEX5):c.919C>T (p.Pro307Ser)
NM_001351132.2(PEX5):c.91C>T (p.Arg31Trp) rs767406855
NM_001351132.2(PEX5):c.930T>C (p.Ser310=) rs2136175490
NM_001351132.2(PEX5):c.933C>G (p.Asp311Glu) rs1446059699
NM_001351132.2(PEX5):c.933C>T (p.Asp311=) rs1446059699
NM_001351132.2(PEX5):c.93G>A (p.Arg31=)
NM_001351132.2(PEX5):c.942C>T (p.Asp314=)
NM_001351132.2(PEX5):c.944_945dup (p.Thr316fs)
NM_001351132.2(PEX5):c.947C>T (p.Thr316Met) rs747529713
NM_001351132.2(PEX5):c.948G>A (p.Thr316=)
NM_001351132.2(PEX5):c.948G>T (p.Thr316=)
NM_001351132.2(PEX5):c.951A>G (p.Ser317=)
NM_001351132.2(PEX5):c.956C>A (p.Thr319Asn) rs1310273629
NM_001351132.2(PEX5):c.960T>C (p.Tyr320=)
NM_001351132.2(PEX5):c.961_963del (p.Asp321del) rs1256295273
NM_001351132.2(PEX5):c.965A>G (p.Lys322Arg) rs770028664
NM_001351132.2(PEX5):c.966+12A>C
NM_001351132.2(PEX5):c.966+14T>A
NM_001351132.2(PEX5):c.966+15C>G
NM_001351132.2(PEX5):c.966+15_966+16del rs753821907
NM_001351132.2(PEX5):c.966+16T>C
NM_001351132.2(PEX5):c.966+1G>C rs2136176386
NM_001351132.2(PEX5):c.966+24dup rs1944415107
NM_001351132.2(PEX5):c.967-10T>G rs2136226017
NM_001351132.2(PEX5):c.967-17A>T
NM_001351132.2(PEX5):c.967-18C>T rs1944977827
NM_001351132.2(PEX5):c.967-1G>A
NM_001351132.2(PEX5):c.967-1_971del
NM_001351132.2(PEX5):c.967-20C>T
NM_001351132.2(PEX5):c.967-4G>A
NM_001351132.2(PEX5):c.967-9T>A
NM_001351132.2(PEX5):c.967G>C (p.Gly323Arg)
NM_001351132.2(PEX5):c.969G>A (p.Gly323=)
NM_001351132.2(PEX5):c.969G>C (p.Gly323=)
NM_001351132.2(PEX5):c.973C>G (p.Gln325Glu) rs1369524555
NM_001351132.2(PEX5):c.979GAG[2] (p.Glu329del)
NM_001351132.2(PEX5):c.984G>A (p.Glu328=) rs2136226421
NM_001351132.2(PEX5):c.992C>G (p.Pro331Arg)
NM_001351132.2(PEX5):c.998G>T (p.Arg333Leu) rs59209175
NM_001351132.2(PEX5):c.99G>C (p.Glu33Asp)

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