ClinVar Miner

List of variants in gene PEX5 reported as likely benign for Peroxisome biogenesis disorder 2B

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 423
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HGVS dbSNP gnomAD frequency
NM_001351132.2(PEX5):c.1567T>C (p.Leu523=) rs144165818 0.00158
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.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.317-15T>C rs187839532 0.00027
NM_001351132.2(PEX5):c.396T>C (p.Thr132=) rs370827246 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.1548C>T (p.Ser516=) rs143571888 0.00014
NM_001351132.2(PEX5):c.753+10T>C rs373242881 0.00012
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.317-8C>T rs368648650 0.00010
NM_001351132.2(PEX5):c.1245C>T (p.Asn415=) rs138243167 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.754-5C>T rs377379933 0.00009
NM_001351132.2(PEX5):c.1869C>T (p.Ala623=) rs755919579 0.00008
NM_001351132.2(PEX5):c.1182-9A>T rs375860970 0.00007
NM_001351132.2(PEX5):c.1110+16G>A rs372043071 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.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.642+19C>G rs759232327 0.00005
NM_001351132.2(PEX5):c.967-15G>A rs201341037 0.00005
NM_001351132.2(PEX5):c.1561-20G>A rs753353124 0.00004
NM_001351132.2(PEX5):c.1695C>T (p.Ser565=) rs755547376 0.00004
NM_001351132.2(PEX5):c.1890C>T (p.Thr630=) rs779933516 0.00004
NM_001351132.2(PEX5):c.449-8C>T rs771181829 0.00004
NM_001351132.2(PEX5):c.543C>T (p.Thr181=) rs138205085 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.156G>A (p.Lys52=) rs1374555547 0.00003
NM_001351132.2(PEX5):c.317-6T>C rs755945291 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.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.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.1677C>T (p.Arg559=) rs756477662 0.00002
NM_001351132.2(PEX5):c.318C>T (p.Ala106=) rs149185061 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.69C>T (p.His23=) rs976676879 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.909T>C (p.Ala303=) rs376649488 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.1059T>C (p.Asn353=) rs775565970 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.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.1288C>T (p.Leu430=) rs1399663676 0.00001
NM_001351132.2(PEX5):c.1293G>A (p.Arg431=) rs1242502801 0.00001
NM_001351132.2(PEX5):c.1347G>C (p.Gly449=) rs778715159 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.1464T>C (p.Pro488=) rs1308021155 0.00001
NM_001351132.2(PEX5):c.148-18T>G rs1208254383 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.1644C>T (p.Ala548=) rs920189030 0.00001
NM_001351132.2(PEX5):c.1665T>C (p.Tyr555=) rs781643068 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.1806C>T (p.Asn602=) rs1414114941 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.1851C>T (p.Ser617=) rs755085818 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.316+15T>C rs755789392 0.00001
NM_001351132.2(PEX5):c.345T>C (p.Ser115=) rs1326887485 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.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.663G>A (p.Gln221=) rs886043565 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.753+13C>T rs747606192 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.966+9A>G rs1389020583 0.00001
NM_001351132.2(PEX5):c.990C>T (p.Asn330=) rs781775833 0.00001
NM_001351132.2(PEX5):c.99G>A (p.Glu33=) rs753239589 0.00001
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.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.1051C>T (p.Leu351=)
NM_001351132.2(PEX5):c.1065G>A (p.Val355=)
NM_001351132.2(PEX5):c.1077G>A (p.Glu359=)
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+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.1134C>G (p.Thr378=)
NM_001351132.2(PEX5):c.1143G>A (p.Glu381=) rs2136230701
NM_001351132.2(PEX5):c.1155A>G (p.Glu385=)
NM_001351132.2(PEX5):c.1173A>G (p.Ala391=) rs1045943718
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.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.1185T>C (p.Cys395=)
NM_001351132.2(PEX5):c.1206C>T (p.Asn402=)
NM_001351132.2(PEX5):c.1215A>G (p.Ala405=)
NM_001351132.2(PEX5):c.1224G>A (p.Ala408=)
NM_001351132.2(PEX5):c.1239C>T (p.Phe413=)
NM_001351132.2(PEX5):c.1248G>A (p.Glu416=) rs2136236014
NM_001351132.2(PEX5):c.1251C>G (p.Ser417=)
NM_001351132.2(PEX5):c.1254G>C (p.Leu418=) rs989783550
NM_001351132.2(PEX5):c.1254G>T (p.Leu418=)
NM_001351132.2(PEX5):c.1266C>T (p.Ala422=)
NM_001351132.2(PEX5):c.126C>T (p.Pro42=) rs1199646327
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.1315C>T (p.Leu439=) rs756242143
NM_001351132.2(PEX5):c.132C>G (p.Ala44=)
NM_001351132.2(PEX5):c.1338G>A (p.Gly446=) rs1359071852
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.1380A>T (p.Gly460=) rs2136238100
NM_001351132.2(PEX5):c.1386C>G (p.Leu462=)
NM_001351132.2(PEX5):c.1392T>C (p.Ser464=) rs2136238346
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.1398C>A (p.Ser466=)
NM_001351132.2(PEX5):c.1413G>A (p.Val471=) rs115760878
NM_001351132.2(PEX5):c.1419G>A (p.Glu473=) rs1945181377
NM_001351132.2(PEX5):c.1426C>T (p.Leu476=)
NM_001351132.2(PEX5):c.147+11T>A
NM_001351132.2(PEX5):c.147+13G>C
NM_001351132.2(PEX5):c.147+32_147+121del
NM_001351132.2(PEX5):c.147+55_147+56insGTGAGGTGGAAAGCCCAGGTGCAGCCTCTGAGGCAGTGAGTGTTC
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.148-19C>G
NM_001351132.2(PEX5):c.148-19C>T rs1487304617
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.1491T>C (p.Leu497=)
NM_001351132.2(PEX5):c.1506G>A (p.Gly502=)
NM_001351132.2(PEX5):c.1515C>T (p.Asp505=)
NM_001351132.2(PEX5):c.1521C>G (p.Ala507=)
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.1560+10G>C
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.1561-5C>G
NM_001351132.2(PEX5):c.1561-6T>C
NM_001351132.2(PEX5):c.1572G>A (p.Leu524=)
NM_001351132.2(PEX5):c.1593C>G (p.Thr531=)
NM_001351132.2(PEX5):c.15G>A (p.Glu5=) rs2135875866
NM_001351132.2(PEX5):c.1629T>C (p.Ala543=) rs2136255855
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.1653C>T (p.Leu551=) rs200215904
NM_001351132.2(PEX5):c.1668C>T (p.Ile556=)
NM_001351132.2(PEX5):c.1674C>T (p.Ser558=)
NM_001351132.2(PEX5):c.1684C>T (p.Leu562=)
NM_001351132.2(PEX5):c.1686G>A (p.Leu562=)
NM_001351132.2(PEX5):c.168A>G (p.Val56=)
NM_001351132.2(PEX5):c.1704C>T (p.Asn568=)
NM_001351132.2(PEX5):c.1713T>G (p.Ala571=)
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+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.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.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.1782T>C (p.Gly594=)
NM_001351132.2(PEX5):c.1794C>T (p.Ala598=) rs778329472
NM_001351132.2(PEX5):c.1809C>T (p.Ile603=)
NM_001351132.2(PEX5):c.1815C>T (p.Ser605=)
NM_001351132.2(PEX5):c.1821G>C (p.Leu607=)
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+7A>G
NM_001351132.2(PEX5):c.183+8G>C
NM_001351132.2(PEX5):c.183+9A>G
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.1863G>A (p.Gly621=)
NM_001351132.2(PEX5):c.1887C>T (p.Ser629=)
NM_001351132.2(PEX5):c.1909C>T (p.Leu637=) rs2136267479
NM_001351132.2(PEX5):c.1914C>T (p.Pro638=)
NM_001351132.2(PEX5):c.192T>C (p.Ala64=)
NM_001351132.2(PEX5):c.219C>A (p.Pro73=)
NM_001351132.2(PEX5):c.225G>C (p.Val75=) rs1941054422
NM_001351132.2(PEX5):c.231T>C (p.Arg77=)
NM_001351132.2(PEX5):c.234C>T (p.Ala78=)
NM_001351132.2(PEX5):c.243C>T (p.Thr81=)
NM_001351132.2(PEX5):c.261C>T (p.Leu87=)
NM_001351132.2(PEX5):c.262C>T (p.Leu88=)
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.297C>T (p.Phe99=)
NM_001351132.2(PEX5):c.300C>T (p.Arg100=)
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[5] rs745564890
NM_001351132.2(PEX5):c.317-19TC[7]
NM_001351132.2(PEX5):c.317-20T>C
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.36G>A (p.Gly12=) rs1940801248
NM_001351132.2(PEX5):c.36G>C (p.Gly12=)
NM_001351132.2(PEX5):c.393A>C (p.Val131=)
NM_001351132.2(PEX5):c.414T>A (p.Thr138=)
NM_001351132.2(PEX5):c.417C>T (p.Asp139=)
NM_001351132.2(PEX5):c.42C>T (p.Ala14=) rs1940804674
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.450C>T (p.Asp150=)
NM_001351132.2(PEX5):c.468T>A (p.Pro156=)
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.510G>A (p.Lys170=) rs1943242860
NM_001351132.2(PEX5):c.511C>T (p.Leu171=) rs1943243303
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.540C>T (p.Ala180=) rs2136075643
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.552-10C>T
NM_001351132.2(PEX5):c.552-14C>A
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.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.570T>C (p.Pro190=) rs767068406
NM_001351132.2(PEX5):c.573G>A (p.Glu191=)
NM_001351132.2(PEX5):c.57G>A (p.Lys19=) rs781336959
NM_001351132.2(PEX5):c.594C>T (p.Ala198=)
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.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.651A>G (p.Lys217=) rs2136150959
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.672A>G (p.Glu224=)
NM_001351132.2(PEX5):c.678G>A (p.Gln226=)
NM_001351132.2(PEX5):c.702G>T (p.Gly234=)
NM_001351132.2(PEX5):c.720A>C (p.Ala240=)
NM_001351132.2(PEX5):c.738G>A (p.Glu246=)
NM_001351132.2(PEX5):c.753+18T>A
NM_001351132.2(PEX5):c.753+19C>A
NM_001351132.2(PEX5):c.754-14C>A
NM_001351132.2(PEX5):c.754-18C>G
NM_001351132.2(PEX5):c.754-4G>T rs111286659
NM_001351132.2(PEX5):c.756T>C (p.Gly252=)
NM_001351132.2(PEX5):c.759A>G (p.Thr253=)
NM_001351132.2(PEX5):c.777C>T (p.Asp259=)
NM_001351132.2(PEX5):c.786A>G (p.Thr262=)
NM_001351132.2(PEX5):c.807C>T (p.Ala269=)
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.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.847-11C>T
NM_001351132.2(PEX5):c.847-9T>C
NM_001351132.2(PEX5):c.855C>T (p.Val285=)
NM_001351132.2(PEX5):c.897A>G (p.Ala299=)
NM_001351132.2(PEX5):c.912G>A (p.Glu304=)
NM_001351132.2(PEX5):c.915C>T (p.Ala305=)
NM_001351132.2(PEX5):c.930T>C (p.Ser310=) rs2136175490
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.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.960T>C (p.Tyr320=)
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.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.967-20C>T
NM_001351132.2(PEX5):c.967-4G>A
NM_001351132.2(PEX5):c.967-9T>A
NM_001351132.2(PEX5):c.969G>A (p.Gly323=)
NM_001351132.2(PEX5):c.969G>C (p.Gly323=)
NM_001351132.2(PEX5):c.984G>A (p.Glu328=) rs2136226421

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