ClinVar Miner

List of variants in gene PEX1 studied for peroxisomal disease

Included ClinVar conditions (82):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1192
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HGVS dbSNP gnomAD frequency
NM_000466.3(PEX1):c.2331C>A (p.Gly777=) rs10278857 0.93013
NM_000466.3(PEX1):c.358-15G>A rs38809 0.86650
NM_000466.3(PEX1):c.1484-36G>A rs2111200 0.25489
NM_000466.3(PEX1):c.1804-28G>A rs10236856 0.07802
NM_000466.3(PEX1):c.358-11G>C rs113104510 0.04153
NM_000466.3(PEX1):c.473-18G>A rs2066743 0.03344
NM_000466.3(PEX1):c.2584-20T>A rs111535201 0.02687
NM_000466.3(PEX1):c.2088A>G (p.Ile696Met) rs35996821 0.02553
NM_000466.3(PEX1):c.1671-7T>C rs74519968 0.01312
NM_000466.3(PEX1):c.812A>G (p.Asn271Ser) rs138183109 0.00874
NM_000466.3(PEX1):c.1521G>C (p.Trp507Cys) rs112822975 0.00803
NM_000466.3(PEX1):c.2271G>C (p.Leu757Phe) rs142838522 0.00270
NM_000466.3(PEX1):c.934A>G (p.Ile312Val) rs146312634 0.00223
NM_000466.3(PEX1):c.330C>G (p.Pro110=) rs71560821 0.00218
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala) rs144942544 0.00217
NM_000466.3(PEX1):c.2442C>T (p.Phe814=) rs145430946 0.00216
NM_000466.3(PEX1):c.473-3C>T rs150576000 0.00213
NM_000466.3(PEX1):c.637C>T (p.Leu213Phe) rs141798874 0.00185
NM_000466.3(PEX1):c.1588-20A>G rs201298666 0.00159
NM_000466.3(PEX1):c.130-9T>C rs377337949 0.00157
NM_000466.3(PEX1):c.1011G>A (p.Lys337=) rs142018583 0.00155
NM_000466.3(PEX1):c.1797A>G (p.Gly599=) rs76986636 0.00140
NM_000466.3(PEX1):c.2645C>T (p.Pro882Leu) rs141764012 0.00066
NM_000466.3(PEX1):c.645C>G (p.Thr215=) rs151041559 0.00066
NM_000466.3(PEX1):c.1085C>T (p.Ser362Leu) rs138758170 0.00057
NM_000466.3(PEX1):c.2718+3A>G rs370536529 0.00040
NM_000466.3(PEX1):c.1360-4G>T rs199716270 0.00038
NM_000466.3(PEX1):c.2584-9del rs886062504 0.00034
NM_000466.3(PEX1):c.939T>C (p.His313=) rs199647157 0.00034
NM_000466.3(PEX1):c.1360-7C>T rs371890000 0.00029
NM_000466.3(PEX1):c.273+12T>C rs377192432 0.00027
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_000466.3(PEX1):c.1725G>A (p.Leu575=) rs150667796 0.00022
NM_000466.3(PEX1):c.2640T>C (p.Tyr880=) rs201719745 0.00022
NM_000466.3(PEX1):c.1268A>G (p.Asn423Ser) rs200857848 0.00021
NM_000466.3(PEX1):c.2045C>T (p.Ala682Val) rs145350631 0.00021
NM_000466.3(PEX1):c.129+19G>A rs763458226 0.00020
NM_000466.3(PEX1):c.1283C>T (p.Ala428Val) rs376883207 0.00017
NM_000466.3(PEX1):c.2200G>A (p.Val734Ile) rs141510219 0.00016
NM_000466.3(PEX1):c.293C>T (p.Ser98Phe) rs369100815 0.00016
NM_000466.3(PEX1):c.627G>A (p.Met209Ile) rs200752969 0.00016
NM_000466.3(PEX1):c.2558T>C (p.Met853Thr) rs143283146 0.00015
NM_000466.3(PEX1):c.1249G>A (p.Asp417Asn) rs143273433 0.00014
NM_000466.3(PEX1):c.159C>T (p.His53=) rs200950057 0.00014
NM_000466.3(PEX1):c.786G>A (p.Glu262=) rs770453102 0.00014
NM_000466.3(PEX1):c.891A>G (p.Ile297Met) rs143206380 0.00013
NM_000466.3(PEX1):c.223G>A (p.Glu75Lys) rs759993457 0.00012
NM_000466.3(PEX1):c.1360-17A>G rs372821961 0.00011
NM_000466.3(PEX1):c.1587+5T>C rs199526105 0.00011
NM_000466.3(PEX1):c.1700T>G (p.Leu567Trp) rs199989676 0.00011
NM_000466.3(PEX1):c.1815A>G (p.Lys605=) rs112688556 0.00011
NM_000466.3(PEX1):c.2060G>A (p.Arg687Gln) rs201443294 0.00011
NM_000466.3(PEX1):c.88C>T (p.His30Tyr) rs375045292 0.00011
NM_000466.3(PEX1):c.2509C>T (p.Leu837=) rs371701421 0.00010
NM_000466.3(PEX1):c.666T>C (p.Thr222=) rs145609203 0.00010
NM_000466.3(PEX1):c.2227-7T>C rs767127036 0.00009
NM_000466.3(PEX1):c.1369A>G (p.Ile457Val) rs561561515 0.00007
NM_000466.3(PEX1):c.1659G>C (p.Leu553=) rs562108145 0.00007
NM_000466.3(PEX1):c.2021C>T (p.Pro674Leu) rs141509344 0.00007
NM_000466.3(PEX1):c.2465T>G (p.Leu822Arg) rs545731416 0.00007
NM_000466.3(PEX1):c.1042A>G (p.Thr348Ala) rs371309198 0.00006
NM_000466.3(PEX1):c.1284C>T (p.Ala428=) rs145153467 0.00006
NM_000466.3(PEX1):c.1717A>G (p.Ser573Gly) rs774417644 0.00006
NM_000466.3(PEX1):c.2057A>G (p.Gln686Arg) rs201016626 0.00006
NM_000466.3(PEX1):c.2750C>T (p.Ala917Val) rs371327573 0.00006
NM_000466.3(PEX1):c.674T>A (p.Ile225Asn) rs372485912 0.00006
NM_000466.3(PEX1):c.1441G>A (p.Val481Ile) rs139919229 0.00005
NM_000466.3(PEX1):c.147G>A (p.Val49=) rs202230667 0.00005
NM_000466.3(PEX1):c.1803+14G>A rs376403633 0.00005
NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter) rs61750418 0.00005
NM_000466.3(PEX1):c.305C>A (p.Ser102Tyr) rs143369243 0.00005
NM_000466.3(PEX1):c.1271T>C (p.Ile424Thr) rs201807430 0.00004
NM_000466.3(PEX1):c.129+16C>G rs376609246 0.00004
NM_000466.3(PEX1):c.130-18C>A rs532589095 0.00004
NM_000466.3(PEX1):c.1670+19A>G rs201646121 0.00004
NM_000466.3(PEX1):c.1827C>T (p.Ala609=) rs766421421 0.00004
NM_000466.3(PEX1):c.1901-18C>T rs375207681 0.00004
NM_000466.3(PEX1):c.2046G>A (p.Ala682=) rs144845259 0.00004
NM_000466.3(PEX1):c.2059C>T (p.Arg687Trp) rs138008298 0.00004
NM_000466.3(PEX1):c.2124G>C (p.Leu708=) rs200258130 0.00004
NM_000466.3(PEX1):c.2296G>A (p.Asp766Asn) rs374010060 0.00004
NM_000466.3(PEX1):c.2675G>A (p.Gly892Glu) rs769356901 0.00004
NM_000466.3(PEX1):c.2719-3T>C rs1034823292 0.00004
NM_000466.3(PEX1):c.611G>A (p.Arg204Lys) rs369126779 0.00004
NM_000466.3(PEX1):c.952G>A (p.Asp318Asn) rs754893068 0.00004
NM_000466.3(PEX1):c.1059A>G (p.Leu353=) rs774522579 0.00003
NM_000466.3(PEX1):c.1281T>C (p.His427=) rs979077056 0.00003
NM_000466.3(PEX1):c.1360-19C>G rs760820104 0.00003
NM_000466.3(PEX1):c.148G>A (p.Val50Ile) rs768702189 0.00003
NM_000466.3(PEX1):c.1587+7G>A rs371765274 0.00003
NM_000466.3(PEX1):c.1913A>C (p.Glu638Ala) rs775544654 0.00003
NM_000466.3(PEX1):c.1995C>T (p.Asp665=) rs758706584 0.00003
NM_000466.3(PEX1):c.2028T>C (p.His676=) rs774256047 0.00003
NM_000466.3(PEX1):c.2121A>G (p.Ala707=) rs771334207 0.00003
NM_000466.3(PEX1):c.2240A>C (p.Glu747Ala) rs200207576 0.00003
NM_000466.3(PEX1):c.2584-13_2584-12insG rs955834633 0.00003
NM_000466.3(PEX1):c.2646G>A (p.Pro882=) rs775421085 0.00003
NM_000466.3(PEX1):c.363G>T (p.Leu121=) rs200866361 0.00003
NM_000466.3(PEX1):c.544C>T (p.Arg182Cys) rs771535312 0.00003
NM_000466.3(PEX1):c.721T>C (p.Ser241Pro) rs753823218 0.00003
NM_000466.3(PEX1):c.721del (p.Ser241fs) rs894289737 0.00003
NM_000466.3(PEX1):c.889A>G (p.Ile297Val) rs181796768 0.00003
NM_000466.3(PEX1):c.1020T>C (p.Ser340=) rs761181376 0.00002
NM_000466.3(PEX1):c.1239+1G>T rs756876301 0.00002
NM_000466.3(PEX1):c.1240A>G (p.Ile414Val) rs759491353 0.00002
NM_000466.3(PEX1):c.130-1G>T rs1028247729 0.00002
NM_000466.3(PEX1):c.134A>G (p.Gln45Arg) rs758309091 0.00002
NM_000466.3(PEX1):c.1359+16T>C rs201631453 0.00002
NM_000466.3(PEX1):c.1486C>T (p.Leu496=) rs746430468 0.00002
NM_000466.3(PEX1):c.1494A>G (p.Glu498=) rs774980172 0.00002
NM_000466.3(PEX1):c.1566G>C (p.Leu522Phe) rs145471560 0.00002
NM_000466.3(PEX1):c.1635C>T (p.Asp545=) rs759202828 0.00002
NM_000466.3(PEX1):c.1900+7G>A rs1474660103 0.00002
NM_000466.3(PEX1):c.1952_1960dup (p.Trp653_Met654insThrValTrp) rs398123408 0.00002
NM_000466.3(PEX1):c.2072-17A>G rs557824423 0.00002
NM_000466.3(PEX1):c.2072C>T (p.Ala691Val) rs150351763 0.00002
NM_000466.3(PEX1):c.2268A>G (p.Lys756=) rs1434174453 0.00002
NM_000466.3(PEX1):c.2269T>C (p.Leu757=) rs776758878 0.00002
NM_000466.3(PEX1):c.2368C>T (p.Arg790Ter) rs61750417 0.00002
NM_000466.3(PEX1):c.2455C>T (p.Arg819Cys) rs983157165 0.00002
NM_000466.3(PEX1):c.2708T>A (p.Ile903Lys) rs1305700033 0.00002
NM_000466.3(PEX1):c.2715C>G (p.Val905=) rs748602242 0.00002
NM_000466.3(PEX1):c.2719-18del rs779261740 0.00002
NM_000466.3(PEX1):c.2730del (p.Leu910fs) rs61750423 0.00002
NM_000466.3(PEX1):c.477A>C (p.Ala159=) rs759628709 0.00002
NM_000466.3(PEX1):c.665C>T (p.Thr222Ile) rs773922257 0.00002
NM_000466.3(PEX1):c.782_783del (p.Gln261fs) rs749067142 0.00002
NM_000466.3(PEX1):c.897C>T (p.Asn299=) rs559305030 0.00002
NM_000466.3(PEX1):c.966T>C (p.Phe322=) rs375550740 0.00002
NM_000466.3(PEX1):c.1021C>G (p.Pro341Ala) rs137856931 0.00001
NM_000466.3(PEX1):c.1099C>A (p.Gln367Lys) rs140990231 0.00001
NM_000466.3(PEX1):c.111C>G (p.Ala37=) rs1412682486 0.00001
NM_000466.3(PEX1):c.1126del (p.Glu376fs) rs751829426 0.00001
NM_000466.3(PEX1):c.1166A>G (p.Asn389Ser) rs1179674772 0.00001
NM_000466.3(PEX1):c.1187A>G (p.Asn396Ser) rs398123407 0.00001
NM_000466.3(PEX1):c.1188T>C (p.Asn396=) rs747010300 0.00001
NM_000466.3(PEX1):c.1240-8A>C rs1439218691 0.00001
NM_000466.3(PEX1):c.126G>T (p.Leu42=) rs1304440662 0.00001
NM_000466.3(PEX1):c.1277T>C (p.Met426Thr) rs780611674 0.00001
NM_000466.3(PEX1):c.1285G>A (p.Val429Ile) rs780349018 0.00001
NM_000466.3(PEX1):c.129+12G>A rs1417437414 0.00001
NM_000466.3(PEX1):c.129+7T>G rs765006313 0.00001
NM_000466.3(PEX1):c.129+9C>T rs761519653 0.00001
NM_000466.3(PEX1):c.130-13C>G rs747033841 0.00001
NM_000466.3(PEX1):c.1324C>T (p.Pro442Ser) rs560969584 0.00001
NM_000466.3(PEX1):c.132T>C (p.Asn44=) rs1793081038 0.00001
NM_000466.3(PEX1):c.1359+10A>G rs1452023751 0.00001
NM_000466.3(PEX1):c.1395A>G (p.Val465=) rs746561219 0.00001
NM_000466.3(PEX1):c.1404A>G (p.Ser468=) rs1488590344 0.00001
NM_000466.3(PEX1):c.1407G>T (p.Trp469Cys) rs746349696 0.00001
NM_000466.3(PEX1):c.1412A>G (p.Gln471Arg) rs1219227236 0.00001
NM_000466.3(PEX1):c.1483+8C>T rs911755069 0.00001
NM_000466.3(PEX1):c.1507A>G (p.Ile503Val) rs771520057 0.00001
NM_000466.3(PEX1):c.1516T>C (p.Ser506Pro) rs778220793 0.00001
NM_000466.3(PEX1):c.1567C>T (p.Leu523=) rs757119959 0.00001
NM_000466.3(PEX1):c.1587+11G>A rs1792431360 0.00001
NM_000466.3(PEX1):c.1609A>G (p.Lys537Glu) rs1378023176 0.00001
NM_000466.3(PEX1):c.1620C>G (p.Asn540Lys) rs917874479 0.00001
NM_000466.3(PEX1):c.1621A>G (p.Ser541Gly) rs1204334087 0.00001
NM_000466.3(PEX1):c.1662C>T (p.Ser554=) rs763624262 0.00001
NM_000466.3(PEX1):c.1671-13A>G rs757960956 0.00001
NM_000466.3(PEX1):c.1689C>T (p.Gly563=) rs776917285 0.00001
NM_000466.3(PEX1):c.1690G>A (p.Val564Ile) rs183965018 0.00001
NM_000466.3(PEX1):c.1695C>T (p.Ser565=) rs760925480 0.00001
NM_000466.3(PEX1):c.169T>C (p.Phe57Leu) rs1162642408 0.00001
NM_000466.3(PEX1):c.1714C>G (p.His572Asp) rs1167491787 0.00001
NM_000466.3(PEX1):c.1750A>G (p.Met584Val) rs758085238 0.00001
NM_000466.3(PEX1):c.1754C>T (p.Ser585Phe) rs1792225580 0.00001
NM_000466.3(PEX1):c.1767A>T (p.Gly589=) rs1364124177 0.00001
NM_000466.3(PEX1):c.1772G>A (p.Arg591Lys) rs754337792 0.00001
NM_000466.3(PEX1):c.1777G>A (p.Gly593Arg) rs61750407 0.00001
NM_000466.3(PEX1):c.1791C>T (p.Leu597=) rs1370887577 0.00001
NM_000466.3(PEX1):c.1795G>T (p.Gly599Ter) rs1792222710 0.00001
NM_000466.3(PEX1):c.1804-16A>T rs1313790749 0.00001
NM_000466.3(PEX1):c.180G>A (p.Trp60Ter) rs1408895107 0.00001
NM_000466.3(PEX1):c.1810G>A (p.Gly604Arg) rs148427398 0.00001
NM_000466.3(PEX1):c.1851T>A (p.Phe617Leu) rs762766482 0.00001
NM_000466.3(PEX1):c.1901-8G>A rs1260085410 0.00001
NM_000466.3(PEX1):c.1916A>T (p.Asn639Ile) rs200438144 0.00001
NM_000466.3(PEX1):c.1945T>G (p.Ser649Ala) rs1251466114 0.00001
NM_000466.3(PEX1):c.1980G>A (p.Leu660=) rs1486515280 0.00001
NM_000466.3(PEX1):c.1981C>T (p.Leu661=) rs1480419846 0.00001
NM_000466.3(PEX1):c.1986T>C (p.Asp662=) rs747406256 0.00001
NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro) rs121434455 0.00001
NM_000466.3(PEX1):c.2026C>T (p.His676Tyr) rs759330849 0.00001
NM_000466.3(PEX1):c.2071+1G>T rs267608177 0.00001
NM_000466.3(PEX1):c.2072-6T>C rs761399118 0.00001
NM_000466.3(PEX1):c.2084T>C (p.Met695Thr) rs112747515 0.00001
NM_000466.3(PEX1):c.2138A>G (p.Gln713Arg) rs1356967048 0.00001
NM_000466.3(PEX1):c.2174C>T (p.Ala725Val) rs1268325040 0.00001
NM_000466.3(PEX1):c.2195A>G (p.Gln732Arg) rs147069266 0.00001
NM_000466.3(PEX1):c.2226+8A>T rs772716358 0.00001
NM_000466.3(PEX1):c.2230C>T (p.Gln744Ter) rs398123409 0.00001
NM_000466.3(PEX1):c.2278G>C (p.Asp760His) rs757149759 0.00001
NM_000466.3(PEX1):c.2280T>C (p.Asp760=) rs749049962 0.00001
NM_000466.3(PEX1):c.2295C>T (p.Thr765=) rs376748473 0.00001
NM_000466.3(PEX1):c.2332G>A (p.Gly778Arg) rs921866912 0.00001
NM_000466.3(PEX1):c.2363T>C (p.Val788Ala) rs886062505 0.00001
NM_000466.3(PEX1):c.2375T>C (p.Ile792Thr) rs747899377 0.00001
NM_000466.3(PEX1):c.2382T>C (p.Ser794=) rs1242105055 0.00001
NM_000466.3(PEX1):c.2392C>T (p.Arg798Cys) rs61750419 0.00001
NM_000466.3(PEX1):c.2408C>T (p.Thr803Ile) rs750911436 0.00001
NM_000466.3(PEX1):c.2416+10A>G rs762189230 0.00001
NM_000466.3(PEX1):c.2456G>A (p.Arg819His) rs376273608 0.00001
NM_000466.3(PEX1):c.2457C>T (p.Arg819=) rs779477506 0.00001
NM_000466.3(PEX1):c.2484T>C (p.Ser828=) rs759689915 0.00001
NM_000466.3(PEX1):c.2518_2520del (p.Asp840del) rs1385204416 0.00001
NM_000466.3(PEX1):c.254G>A (p.Gly85Glu) rs771224088 0.00001
NM_000466.3(PEX1):c.2554C>T (p.Leu852Phe) rs202090176 0.00001
NM_000466.3(PEX1):c.2583+1G>T rs771586413 0.00001
NM_000466.3(PEX1):c.2614C>T (p.Arg872Ter) rs61750422 0.00001
NM_000466.3(PEX1):c.2632C>T (p.Leu878=) rs766615075 0.00001
NM_000466.3(PEX1):c.263A>T (p.Asn88Ile) rs763218526 0.00001
NM_000466.3(PEX1):c.2655A>G (p.Thr885=) rs759281351 0.00001
NM_000466.3(PEX1):c.267G>A (p.Gly89=) rs1323919866 0.00001
NM_000466.3(PEX1):c.2707A>G (p.Ile903Val) rs1009218596 0.00001
NM_000466.3(PEX1):c.2718+9T>A rs758628728 0.00001
NM_000466.3(PEX1):c.2719-18T>C rs772778880 0.00001
NM_000466.3(PEX1):c.2719-19C>G rs762582964 0.00001
NM_000466.3(PEX1):c.2719-1G>A rs1791673946 0.00001
NM_000466.3(PEX1):c.274-5T>C rs766795557 0.00001
NM_000466.3(PEX1):c.2742C>T (p.Tyr914=) rs779097376 0.00001
NM_000466.3(PEX1):c.2743A>T (p.Ile915Phe) rs376029287 0.00001
NM_000466.3(PEX1):c.2744T>C (p.Ile915Thr) rs757305859 0.00001
NM_000466.3(PEX1):c.2767C>T (p.Arg923Trp) rs780992963 0.00001
NM_000466.3(PEX1):c.2783+11T>A rs762637904 0.00001
NM_000466.3(PEX1):c.2783+4G>A rs751416309 0.00001
NM_000466.3(PEX1):c.282C>G (p.Leu94=) rs201368809 0.00001
NM_000466.3(PEX1):c.289T>C (p.Cys97Arg) rs1792936652 0.00001
NM_000466.3(PEX1):c.357+14A>G rs1243475329 0.00001
NM_000466.3(PEX1):c.358-13C>G rs749180235 0.00001
NM_000466.3(PEX1):c.358-7G>T rs1286759742 0.00001
NM_000466.3(PEX1):c.393A>G (p.Leu131=) rs780791624 0.00001
NM_000466.3(PEX1):c.404G>A (p.Arg135Gln) rs754529845 0.00001
NM_000466.3(PEX1):c.440T>C (p.Val147Ala) rs750928084 0.00001
NM_000466.3(PEX1):c.457A>G (p.Ile153Val) rs200106153 0.00001
NM_000466.3(PEX1):c.458T>C (p.Ile153Thr) rs760942926 0.00001
NM_000466.3(PEX1):c.472+13G>A rs1792887180 0.00001
NM_000466.3(PEX1):c.498T>C (p.Tyr166=) rs1427788462 0.00001
NM_000466.3(PEX1):c.513T>C (p.Thr171=) rs1306750859 0.00001
NM_000466.3(PEX1):c.516C>T (p.Asp172=) rs776426017 0.00001
NM_000466.3(PEX1):c.541A>C (p.Thr181Pro) rs775093154 0.00001
NM_000466.3(PEX1):c.547C>T (p.Arg183Ter) rs149806989 0.00001
NM_000466.3(PEX1):c.579T>C (p.Asp193=) rs1562866985 0.00001
NM_000466.3(PEX1):c.609A>G (p.Gly203=) rs1421454418 0.00001
NM_000466.3(PEX1):c.651A>G (p.Gln217=) rs1476909174 0.00001
NM_000466.3(PEX1):c.659C>T (p.Ser220Leu) rs759048090 0.00001
NM_000466.3(PEX1):c.688G>A (p.Glu230Lys) rs781371997 0.00001
NM_000466.3(PEX1):c.693C>T (p.Asn231=) rs1463386429 0.00001
NM_000466.3(PEX1):c.706_720del (p.Pro236_Ser240del) rs754890130 0.00001
NM_000466.3(PEX1):c.724G>A (p.Val242Ile) rs764044654 0.00001
NM_000466.3(PEX1):c.789A>T (p.Thr263=) rs564163221 0.00001
NM_000466.3(PEX1):c.803C>G (p.Thr268Ser) rs780119112 0.00001
NM_000466.3(PEX1):c.814G>A (p.Ala272Thr) rs528610267 0.00001
NM_000466.3(PEX1):c.830A>G (p.Gln277Arg) rs886062506 0.00001
NM_000466.3(PEX1):c.831G>A (p.Gln277=) rs1210178752 0.00001
NM_000466.3(PEX1):c.834A>T (p.Ser278=) rs1477748762 0.00001
NM_000466.3(PEX1):c.853A>G (p.Asn285Asp) rs1407539383 0.00001
NM_000466.3(PEX1):c.854A>G (p.Asn285Ser) rs781103940 0.00001
NM_000466.3(PEX1):c.862A>C (p.Arg288=) rs754695892 0.00001
NM_000466.3(PEX1):c.867A>G (p.Val289=) rs1357434321 0.00001
NM_000466.3(PEX1):c.879A>G (p.Gln293=) rs989737484 0.00001
NM_000466.3(PEX1):c.894T>C (p.Tyr298=) rs1792856461 0.00001
NM_000466.3(PEX1):c.900G>A (p.Ala300=) rs372013709 0.00001
NM_000466.3(PEX1):c.953A>G (p.Asp318Gly) rs751341597 0.00001
NC_000007.13:g.(92123944_92126026)_(92126092_92129017)del
NC_000007.13:g.(?_92116761)_(92136450_?)del
NC_000007.13:g.(?_92116771)_(92116875_?)del
NC_000007.13:g.(?_92116771)_(92151579_?)dup
NC_000007.13:g.(?_92126007)_(92126111_?)del
NC_000007.13:g.(?_92135552)_(92140371_?)del
NC_000007.13:g.(?_92135668)_(92140738_?)del
NC_000007.13:g.(?_92136298)_(92140371_?)del
NC_000007.13:g.(?_92143152)_(92143291_?)del
NC_000007.13:g.(?_92146659)_(92148107_?)del
NC_000007.13:g.(?_92146662)_(92148110_?)del
NC_000007.13:g.(?_92148299)_(92157759_?)del
NC_000007.14:g.(?_92487437)_(92487561_?)del
NC_000007.14:g.(?_92509319)_(92509421_?)del
NM_000466.2(PEX1):c.2010_2018del (p.Ala672_Pro674del) rs1357462196
NM_000466.3(PEX1):c.1012_1016del (p.Leu338fs) rs2116243800
NM_000466.3(PEX1):c.1014A>G (p.Leu338=) rs764541484
NM_000466.3(PEX1):c.1025del (p.Lys342fs)
NM_000466.3(PEX1):c.1027C>T (p.Gln343Ter)
NM_000466.3(PEX1):c.102T>A (p.Arg34=) rs2116298466
NM_000466.3(PEX1):c.1032G>A (p.Gln344=)
NM_000466.3(PEX1):c.1035A>G (p.Gln345=)
NM_000466.3(PEX1):c.1038T>C (p.Ser346=)
NM_000466.3(PEX1):c.1039A>G (p.Lys347Glu)
NM_000466.3(PEX1):c.103C>T (p.Leu35Phe)
NM_000466.3(PEX1):c.1043_1046del (p.Thr348fs)
NM_000466.3(PEX1):c.1048C>T (p.Gln350Ter)
NM_000466.3(PEX1):c.1050A>G (p.Gln350=)
NM_000466.3(PEX1):c.1056G>A (p.Val352=) rs1348024001
NM_000466.3(PEX1):c.105C>G (p.Leu35=) rs975387176
NM_000466.3(PEX1):c.105C>T (p.Leu35=)
NM_000466.3(PEX1):c.1060T>C (p.Ser354Pro)
NM_000466.3(PEX1):c.1074G>A (p.Glu358=)
NM_000466.3(PEX1):c.1074_1075del (p.Lys359fs) rs1057517488
NM_000466.3(PEX1):c.1076del (p.Lys359fs) rs1057517465
NM_000466.3(PEX1):c.1077G>A (p.Lys359=) rs138905930
NM_000466.3(PEX1):c.1077G>T (p.Lys359Asn) rs138905930
NM_000466.3(PEX1):c.1081A>G (p.Met361Val) rs746906648
NM_000466.3(PEX1):c.1086A>C (p.Ser362=)
NM_000466.3(PEX1):c.108G>A (p.Val36=) rs2116298440
NM_000466.3(PEX1):c.1092A>G (p.Pro364=) rs2116243378
NM_000466.3(PEX1):c.1096G>C (p.Asp366His)
NM_000466.3(PEX1):c.1096G>T (p.Asp366Tyr)
NM_000466.3(PEX1):c.1099C>T (p.Gln367Ter)
NM_000466.3(PEX1):c.1099del (p.Gln367fs) rs1403870448
NM_000466.3(PEX1):c.1101_1121del (p.Gln367_Asp373del) rs1554375280
NM_000466.3(PEX1):c.1104A>C (p.Lys368Asn) rs2116243334
NM_000466.3(PEX1):c.1108del (p.Ile370fs) rs61750406
NM_000466.3(PEX1):c.1108dup (p.Ile370fs) rs61750406
NM_000466.3(PEX1):c.1109T>C (p.Ile370Thr) rs1562866173
NM_000466.3(PEX1):c.1111A>G (p.Arg371Gly)
NM_000466.3(PEX1):c.1113G>A (p.Arg371=)
NM_000466.3(PEX1):c.1116A>G (p.Ser372=)
NM_000466.3(PEX1):c.1125T>C (p.Asn375=) rs1585254314
NM_000466.3(PEX1):c.1131del (p.Asp378fs) rs886043479
NM_000466.3(PEX1):c.1135G>A (p.Glu379Lys)
NM_000466.3(PEX1):c.1138A>C (p.Lys380Gln)
NM_000466.3(PEX1):c.1141G>T (p.Ala381Ser) rs540780825
NM_000466.3(PEX1):c.1142C>A (p.Ala381Asp) rs73404416
NM_000466.3(PEX1):c.1142C>G (p.Ala381Gly)
NM_000466.3(PEX1):c.1142C>T (p.Ala381Val)
NM_000466.3(PEX1):c.1152A>G (p.Leu384=) rs776933950
NM_000466.3(PEX1):c.1155del (p.Gln385_Val386insTer) rs1057517520
NM_000466.3(PEX1):c.1156G>C (p.Val386Leu) rs2116242910
NM_000466.3(PEX1):c.1156_1187del (p.Val386fs)
NM_000466.3(PEX1):c.1161C>A (p.Val387=)
NM_000466.3(PEX1):c.1163G>A (p.Trp388Ter) rs1585254187
NM_000466.3(PEX1):c.1164G>A (p.Trp388Ter)
NM_000466.3(PEX1):c.1170A>G (p.Gly390=)
NM_000466.3(PEX1):c.1171_1183del (p.Leu391fs)
NM_000466.3(PEX1):c.1174G>T (p.Glu392Ter)
NM_000466.3(PEX1):c.1175A>G (p.Glu392Gly) rs1792836885
NM_000466.3(PEX1):c.1177G>A (p.Glu393Lys) rs2116242745
NM_000466.3(PEX1):c.1180T>C (p.Leu394=) rs1202226565
NM_000466.3(PEX1):c.1184A>T (p.Asn395Ile) rs1008956990
NM_000466.3(PEX1):c.1185C>T (p.Asn395=)
NM_000466.3(PEX1):c.1190C>T (p.Ala397Val) rs2116242607
NM_000466.3(PEX1):c.1193T>A (p.Ile398Asn)
NM_000466.3(PEX1):c.119A>G (p.His40Arg)
NM_000466.3(PEX1):c.1203del (p.Asn403fs)
NM_000466.3(PEX1):c.1208del (p.Asn403fs) rs1376037318
NM_000466.3(PEX1):c.1214A>C (p.Glu405Ala)
NM_000466.3(PEX1):c.1218T>C (p.Val406=) rs2116242424
NM_000466.3(PEX1):c.1224T>C (p.His408=) rs745690908
NM_000466.3(PEX1):c.1229G>A (p.Gly410Glu) rs2116242366
NM_000466.3(PEX1):c.122TGC[3] (p.Leu42dup) rs1554378340
NM_000466.3(PEX1):c.1230G>A (p.Gly410=) rs539382251
NM_000466.3(PEX1):c.1233A>G (p.Lys411=)
NM_000466.3(PEX1):c.1239+10A>C rs2116242233
NM_000466.3(PEX1):c.1239+10A>G
NM_000466.3(PEX1):c.1239+11A>G
NM_000466.3(PEX1):c.1239+11del rs764454264
NM_000466.3(PEX1):c.1239+15del
NM_000466.3(PEX1):c.1239+17T>A
NM_000466.3(PEX1):c.1239+17T>C
NM_000466.3(PEX1):c.1239+1G>A rs756876301
NM_000466.3(PEX1):c.1239+2T>A
NM_000466.3(PEX1):c.1239+8T>C
NM_000466.3(PEX1):c.1239G>A (p.Trp413Ter)
NM_000466.3(PEX1):c.1240-10del rs1298492061
NM_000466.3(PEX1):c.1240-15A>G
NM_000466.3(PEX1):c.1240-19_1240-16del rs1218585650
NM_000466.3(PEX1):c.1240-20T>G rs1792604603
NM_000466.3(PEX1):c.1240-7A>C rs1226446593
NM_000466.3(PEX1):c.1240_1359del (p.Ile414_Leu453del) rs2116220949
NM_000466.3(PEX1):c.1245A>G (p.Pro415=)
NM_000466.3(PEX1):c.124C>T (p.Leu42=) rs2116298363
NM_000466.3(PEX1):c.1251C>T (p.Asp417=) rs1458830864
NM_000466.3(PEX1):c.1264C>T (p.Leu422=)
NM_000466.3(PEX1):c.1266A>C (p.Leu422=)
NM_000466.3(PEX1):c.1279C>A (p.His427Asn) rs2116221515
NM_000466.3(PEX1):c.1282G>A (p.Ala428Thr)
NM_000466.3(PEX1):c.1284C>A (p.Ala428=)
NM_000466.3(PEX1):c.129+10C>G rs886062508
NM_000466.3(PEX1):c.129+10C>T rs886062508
NM_000466.3(PEX1):c.129+11G>A
NM_000466.3(PEX1):c.129+13C>T
NM_000466.3(PEX1):c.129+16C>T
NM_000466.3(PEX1):c.129+17G>A
NM_000466.3(PEX1):c.129+18A>G
NM_000466.3(PEX1):c.129+1G>A rs2116298327
NM_000466.3(PEX1):c.129+7T>C rs765006313
NM_000466.3(PEX1):c.129+8G>A rs1793393956
NM_000466.3(PEX1):c.1290C>A (p.Val430=) rs1230907353
NM_000466.3(PEX1):c.1290C>G (p.Val430=) rs1230907353
NM_000466.3(PEX1):c.1290C>T (p.Val430=)
NM_000466.3(PEX1):c.130-10A>G
NM_000466.3(PEX1):c.130-15_130-7dup rs2116268826
NM_000466.3(PEX1):c.130-17A>G rs1206974534
NM_000466.3(PEX1):c.130-1G>C rs1028247729
NM_000466.3(PEX1):c.130-20C>G
NM_000466.3(PEX1):c.130-2A>G rs1585260993
NM_000466.3(PEX1):c.130-2A>T rs1585260993
NM_000466.3(PEX1):c.130-4A>G
NM_000466.3(PEX1):c.130-5A>C rs764946946
NM_000466.3(PEX1):c.130-7T>C
NM_000466.3(PEX1):c.1314C>A (p.Thr438=)
NM_000466.3(PEX1):c.1314C>T (p.Thr438=)
NM_000466.3(PEX1):c.1321del (p.Ile441fs)
NM_000466.3(PEX1):c.1323T>G (p.Ile441Met) rs2116221247
NM_000466.3(PEX1):c.1326A>G (p.Pro442=)
NM_000466.3(PEX1):c.1327A>G (p.Arg443Gly) rs2116221209
NM_000466.3(PEX1):c.1331C>T (p.Ser444Phe) rs1792597851
NM_000466.3(PEX1):c.1333C>T (p.Leu445=) rs1358993243
NM_000466.3(PEX1):c.1335A>G (p.Leu445=)
NM_000466.3(PEX1):c.1338G>A (p.Lys446=) rs543863652
NM_000466.3(PEX1):c.1340T>G (p.Leu447Ter) rs1585248089
NM_000466.3(PEX1):c.1342C>T (p.Gln448Ter) rs1467651370
NM_000466.3(PEX1):c.1343A>T (p.Gln448Leu)
NM_000466.3(PEX1):c.1347T>C (p.Pro449=) rs1476938711
NM_000466.3(PEX1):c.1347T>G (p.Pro449=) rs1476938711
NM_000466.3(PEX1):c.1351_1354dup (p.Asn452fs) rs1792596054
NM_000466.3(PEX1):c.1354A>C (p.Asn452His) rs2116220996
NM_000466.3(PEX1):c.1359+11AT[3]
NM_000466.3(PEX1):c.1359+13A>G
NM_000466.3(PEX1):c.1359+14T>C
NM_000466.3(PEX1):c.1359+14T>G
NM_000466.3(PEX1):c.1359+15A>G
NM_000466.3(PEX1):c.1359+17A>G
NM_000466.3(PEX1):c.1359+1G>C
NM_000466.3(PEX1):c.1360-4G>A rs199716270
NM_000466.3(PEX1):c.1360-5G>C rs2116209932
NM_000466.3(PEX1):c.1360-8T>C
NM_000466.3(PEX1):c.1363A>T (p.Lys455Ter)
NM_000466.3(PEX1):c.1365A>G (p.Lys455=) rs1792475306
NM_000466.3(PEX1):c.1374_1375delinsA (p.Ser458fs)
NM_000466.3(PEX1):c.1375G>T (p.Glu459Ter)
NM_000466.3(PEX1):c.1377A>G (p.Glu459=)
NM_000466.3(PEX1):c.1380A>C (p.Glu460Asp) rs565049190
NM_000466.3(PEX1):c.1393_1394del (p.Val465fs) rs1164941642
NM_000466.3(PEX1):c.1396T>C (p.Phe466Leu)
NM_000466.3(PEX1):c.1397T>G (p.Phe466Cys) rs1040716320
NM_000466.3(PEX1):c.1401T>C (p.Tyr467=) rs1792473177
NM_000466.3(PEX1):c.1410A>G (p.Leu470=) rs1441446202
NM_000466.3(PEX1):c.1411C>T (p.Gln471Ter) rs758402265
NM_000466.3(PEX1):c.1413G>A (p.Gln471=) rs1354951609
NM_000466.3(PEX1):c.1414C>T (p.Gln472Ter) rs1554373801
NM_000466.3(PEX1):c.1415A>G (p.Gln472Arg)
NM_000466.3(PEX1):c.1417T>C (p.Ser473Pro) rs1474508557
NM_000466.3(PEX1):c.141A>C (p.Ile47=)
NM_000466.3(PEX1):c.1422T>C (p.Thr474=) rs1792471058
NM_000466.3(PEX1):c.1422_1425del (p.Thr475fs)
NM_000466.3(PEX1):c.1428C>A (p.Thr476=)
NM_000466.3(PEX1):c.1428C>T (p.Thr476=)
NM_000466.3(PEX1):c.1429A>G (p.Met477Val)
NM_000466.3(PEX1):c.1432C>T (p.Leu478Phe)
NM_000466.3(PEX1):c.1434T>G (p.Leu478=) rs757668497
NM_000466.3(PEX1):c.1437T>A (p.Pro479=)
NM_000466.3(PEX1):c.1437T>G (p.Pro479=)
NM_000466.3(PEX1):c.1439del (p.Leu480fs) rs1554373787
NM_000466.3(PEX1):c.1445_1446insTGA (p.Ile482_Ser483insGlu) rs2116209401
NM_000466.3(PEX1):c.144A>C (p.Glu48Asp) rs1793080526
NM_000466.3(PEX1):c.1455A>G (p.Glu485=)
NM_000466.3(PEX1):c.1456G>T (p.Glu486Ter) rs2116209376
NM_000466.3(PEX1):c.1468_1469del (p.Leu490fs)
NM_000466.3(PEX1):c.1473A>G (p.Glu491=)
NM_000466.3(PEX1):c.1476T>G (p.Thr492=) rs1792468652
NM_000466.3(PEX1):c.147_149del (p.Val50del)
NM_000466.3(PEX1):c.1483+16_1483+20del
NM_000466.3(PEX1):c.1483+18T>A
NM_000466.3(PEX1):c.1483+18T>G
NM_000466.3(PEX1):c.1483+1G>A rs1585244586
NM_000466.3(PEX1):c.1483+9A>C rs2116209200
NM_000466.3(PEX1):c.1483+9del
NM_000466.3(PEX1):c.1484-10T>G
NM_000466.3(PEX1):c.1484-11C>A
NM_000466.3(PEX1):c.1484-11C>G
NM_000466.3(PEX1):c.1484-15C>T
NM_000466.3(PEX1):c.1484-4A>G
NM_000466.3(PEX1):c.1484-4A>T
NM_000466.3(PEX1):c.1484-7T>G
NM_000466.3(PEX1):c.1489A>C (p.Lys497Gln)
NM_000466.3(PEX1):c.1490A>G (p.Lys497Arg)
NM_000466.3(PEX1):c.1492G>T (p.Glu498Ter)
NM_000466.3(PEX1):c.1494A>T (p.Glu498Asp)
NM_000466.3(PEX1):c.1501C>T (p.Leu501=)
NM_000466.3(PEX1):c.1501_1502del (p.Leu501fs) rs786204743
NM_000466.3(PEX1):c.1502_1513del (p.Leu501_Val504del)
NM_000466.3(PEX1):c.1503G>C (p.Leu501=)
NM_000466.3(PEX1):c.1515T>C (p.His505=)
NM_000466.3(PEX1):c.1518T>C (p.Ser506=) rs756375656
NM_000466.3(PEX1):c.1522dup (p.Glu508fs) rs1057517463
NM_000466.3(PEX1):c.1524A>G (p.Glu508=) rs2116205422
NM_000466.3(PEX1):c.1524AAAAGA[1] (p.508EK[1]) rs1554373613
NM_000466.3(PEX1):c.1526A>C (p.Lys509Thr)
NM_000466.3(PEX1):c.1527del (p.Glu510fs) rs1057517497
NM_000466.3(PEX1):c.1528G>T (p.Glu510Ter) rs754983126
NM_000466.3(PEX1):c.1533del (p.Asp512fs) rs2116205361
NM_000466.3(PEX1):c.1535A>T (p.Asp512Val)
NM_000466.3(PEX1):c.1539A>G (p.Lys513=)
NM_000466.3(PEX1):c.154A>G (p.Ser52Gly)
NM_000466.3(PEX1):c.1552T>C (p.Leu518=) rs2116205269
NM_000466.3(PEX1):c.1552_1553delinsA (p.Leu518fs)
NM_000466.3(PEX1):c.1554G>A (p.Leu518=)
NM_000466.3(PEX1):c.1562A>G (p.Asn521Ser)
NM_000466.3(PEX1):c.156T>C (p.Ser52=) rs1793079717
NM_000466.3(PEX1):c.1581A>C (p.Thr527=) rs2116205071
NM_000466.3(PEX1):c.1581A>G (p.Thr527=)
NM_000466.3(PEX1):c.1582A>G (p.Ile528Val) rs1792432441
NM_000466.3(PEX1):c.1583_1587del (p.Ile528fs)
NM_000466.3(PEX1):c.1587+12T>C
NM_000466.3(PEX1):c.1587+15T>C
NM_000466.3(PEX1):c.1587+16T>C
NM_000466.3(PEX1):c.1587+1G>A rs1057517469
NM_000466.3(PEX1):c.1587+1G>T
NM_000466.3(PEX1):c.1587+2T>C rs1554373578
NM_000466.3(PEX1):c.1587+6A>G
NM_000466.3(PEX1):c.1587+8C>G rs2116204929
NM_000466.3(PEX1):c.1588-14C>T rs2116195353
NM_000466.3(PEX1):c.1588-16T>C
NM_000466.3(PEX1):c.1588-4G>A
NM_000466.3(PEX1):c.1588-7A>G
NM_000466.3(PEX1):c.1590C>A (p.Val530=)
NM_000466.3(PEX1):c.1590C>T (p.Val530=)
NM_000466.3(PEX1):c.1593_1595del (p.Leu532del) rs1554373273
NM_000466.3(PEX1):c.1600C>G (p.Pro534Ala) rs1419015282
NM_000466.3(PEX1):c.1600C>T (p.Pro534Ser) rs1419015282
NM_000466.3(PEX1):c.1601C>G (p.Pro534Arg) rs983690128
NM_000466.3(PEX1):c.1603A>G (p.Met535Val)
NM_000466.3(PEX1):c.1605G>A (p.Met535Ile) rs2116195142
NM_000466.3(PEX1):c.1611A>G (p.Lys537=) rs1209882593
NM_000466.3(PEX1):c.1611del (p.Glu538fs)
NM_000466.3(PEX1):c.1615G>A (p.Glu539Lys)
NM_000466.3(PEX1):c.1620C>T (p.Asn540=)
NM_000466.3(PEX1):c.1623T>G (p.Ser541Arg)
NM_000466.3(PEX1):c.1638T>A (p.Phe546Leu) rs1397315670
NM_000466.3(PEX1):c.1639A>G (p.Ile547Val)
NM_000466.3(PEX1):c.1645C>T (p.Pro549Ser) rs1053943553
NM_000466.3(PEX1):c.1646C>G (p.Pro549Arg) rs751131750
NM_000466.3(PEX1):c.1646del (p.Pro549fs)
NM_000466.3(PEX1):c.1647T>A (p.Pro549=)
NM_000466.3(PEX1):c.1652dup (p.Leu551fs)
NM_000466.3(PEX1):c.1657C>A (p.Leu553Met)
NM_000466.3(PEX1):c.165T>C (p.Pro55=)
NM_000466.3(PEX1):c.1661G>A (p.Ser554Asn)
NM_000466.3(PEX1):c.1663T>C (p.Ser555Pro) rs773827098
NM_000466.3(PEX1):c.1668G>C (p.Leu556Phe) rs1792345170
NM_000466.3(PEX1):c.1670+10T>C
NM_000466.3(PEX1):c.1670+10T>G
NM_000466.3(PEX1):c.1670+12T>C
NM_000466.3(PEX1):c.1670+16C>T
NM_000466.3(PEX1):c.1670+18A>C
NM_000466.3(PEX1):c.1670+18_1670+19insT
NM_000466.3(PEX1):c.1670+19A>T
NM_000466.3(PEX1):c.1670+1G>A rs1057517490
NM_000466.3(PEX1):c.1670+1G>T rs1057517490
NM_000466.3(PEX1):c.1670+20C>G
NM_000466.3(PEX1):c.1670+5G>T rs201343162
NM_000466.3(PEX1):c.1671-11A>G
NM_000466.3(PEX1):c.1671-12T>C
NM_000466.3(PEX1):c.1671-15_1671-12del
NM_000466.3(PEX1):c.1671-17A>G
NM_000466.3(PEX1):c.1671-5dup rs1792230930
NM_000466.3(PEX1):c.1671_1672del
NM_000466.3(PEX1):c.1672G>T (p.Gly558Ter) rs2116181877
NM_000466.3(PEX1):c.1679A>G (p.Asn560Ser) rs2116181845
NM_000466.3(PEX1):c.1686A>G (p.Leu562=) rs2116181786
NM_000466.3(PEX1):c.1688G>A (p.Gly563Asp) rs2116181769
NM_000466.3(PEX1):c.168A>G (p.Ala56=)
NM_000466.3(PEX1):c.1696_1697del (p.Ser566fs)
NM_000466.3(PEX1):c.1698C>T (p.Ser566=) rs2116181641
NM_000466.3(PEX1):c.1702G>C (p.Glu568Gln)
NM_000466.3(PEX1):c.1704G>A (p.Glu568=) rs1792229068
NM_000466.3(PEX1):c.1707C>T (p.His569=)
NM_000466.3(PEX1):c.1713T>C (p.Thr571=)
NM_000466.3(PEX1):c.1716C>A (p.His572Gln) rs1792228135
NM_000466.3(PEX1):c.1716C>T (p.His572=) rs1792228135
NM_000466.3(PEX1):c.1716_1717del (p.His572fs) rs786204606
NM_000466.3(PEX1):c.1719C>T (p.Ser573=) rs2116181405
NM_000466.3(PEX1):c.171C>T (p.Phe57=) rs2116268508
NM_000466.3(PEX1):c.1727dup (p.Arg577fs) rs1585238595
NM_000466.3(PEX1):c.1728del (p.Arg577fs)
NM_000466.3(PEX1):c.1729C>A (p.Arg577Ser) rs200991412
NM_000466.3(PEX1):c.1730G>A (p.Arg577His)
NM_000466.3(PEX1):c.1731C>A (p.Arg577=)
NM_000466.3(PEX1):c.1731C>G (p.Arg577=) rs2116181294
NM_000466.3(PEX1):c.1734T>A (p.Pro578=)
NM_000466.3(PEX1):c.1741C>T (p.Arg581Trp)
NM_000466.3(PEX1):c.1742G>A (p.Arg581Gln) rs370483961
NM_000466.3(PEX1):c.1742G>C (p.Arg581Pro) rs370483961
NM_000466.3(PEX1):c.1742_1756del (p.Arg581_Ser585del)
NM_000466.3(PEX1):c.1743_1796del (p.Gln582_Gly599del) rs1554372756
NM_000466.3(PEX1):c.1746G>A (p.Gln582=) rs750015247
NM_000466.3(PEX1):c.1746G>C (p.Gln582His)
NM_000466.3(PEX1):c.174G>A (p.Leu58=)
NM_000466.3(PEX1):c.1754C>A (p.Ser585Tyr) rs1792225580
NM_000466.3(PEX1):c.175_176del (p.Ser59fs)
NM_000466.3(PEX1):c.1763C>T (p.Ala588Val) rs2116181053
NM_000466.3(PEX1):c.1765G>T (p.Gly589Ter) rs1057517489
NM_000466.3(PEX1):c.1769T>G (p.Leu590Arg)
NM_000466.3(PEX1):c.1769_1770del (p.Leu590fs)
NM_000466.3(PEX1):c.1773G>A (p.Arg591=) rs2116180929
NM_000466.3(PEX1):c.1776T>C (p.Asn592=)
NM_000466.3(PEX1):c.177C>T (p.Ser59=)
NM_000466.3(PEX1):c.1791C>G (p.Leu597=)
NM_000466.3(PEX1):c.1792del (p.Thr598fs) rs886037783
NM_000466.3(PEX1):c.1793C>G (p.Thr598Arg)
NM_000466.3(PEX1):c.1793_1803+1del rs2116180739
NM_000466.3(PEX1):c.1800A>G (p.Gly600=)
NM_000466.3(PEX1):c.1801A>T (p.Lys601Ter)
NM_000466.3(PEX1):c.1803+14G>C
NM_000466.3(PEX1):c.1803+14G>T
NM_000466.3(PEX1):c.1803+17T>C
NM_000466.3(PEX1):c.1803+20T>G
NM_000466.3(PEX1):c.1804-12A>C
NM_000466.3(PEX1):c.1804-12A>G rs143041528
NM_000466.3(PEX1):c.1804-12A>T rs143041528
NM_000466.3(PEX1):c.1804-13A>C
NM_000466.3(PEX1):c.1804-15G>C
NM_000466.3(PEX1):c.1804-16A>G
NM_000466.3(PEX1):c.1804-7T>G rs1171558935
NM_000466.3(PEX1):c.1815dup (p.Ser606fs)
NM_000466.3(PEX1):c.1817C>A (p.Ser606Ter)
NM_000466.3(PEX1):c.1817C>G (p.Ser606Ter) rs1792186595
NM_000466.3(PEX1):c.1822_1823del (p.Leu608fs)
NM_000466.3(PEX1):c.1829_1830del (p.Lys610fs) rs1562857333
NM_000466.3(PEX1):c.1832C>T (p.Ala611Val) rs2116176413
NM_000466.3(PEX1):c.1833A>C (p.Ala611=) rs2116176396
NM_000466.3(PEX1):c.1833A>G (p.Ala611=) rs2116176396
NM_000466.3(PEX1):c.1834A>G (p.Ile612Val)
NM_000466.3(PEX1):c.1838_1839dup (p.Lys614fs) rs1554372561
NM_000466.3(PEX1):c.1840A>T (p.Lys614Ter)
NM_000466.3(PEX1):c.1842del (p.Glu615fs) rs267608176
NM_000466.3(PEX1):c.1851T>C (p.Phe617=) rs762766482
NM_000466.3(PEX1):c.1855A>T (p.Lys619Ter)
NM_000466.3(PEX1):c.1857A>G (p.Lys619=) rs1393403749
NM_000466.3(PEX1):c.1858C>T (p.Leu620=)
NM_000466.3(PEX1):c.1867C>A (p.His623Asn) rs1792183513
NM_000466.3(PEX1):c.1869T>C (p.His623=)
NM_000466.3(PEX1):c.1873G>C (p.Glu625Gln) rs2116176145
NM_000466.3(PEX1):c.1875G>C (p.Glu625Asp) rs775491706
NM_000466.3(PEX1):c.1876A>T (p.Arg626Ter)
NM_000466.3(PEX1):c.1877G>C (p.Arg626Thr) rs1310822252
NM_000466.3(PEX1):c.1878A>G (p.Arg626=) rs1792182837
NM_000466.3(PEX1):c.1884C>T (p.Asp628=) rs1345707685
NM_000466.3(PEX1):c.1886_1887del (p.Asp628_Cys629insTer) rs1398892633
NM_000466.3(PEX1):c.1890del (p.Ala631fs) rs2116175944
NM_000466.3(PEX1):c.1891del (p.Ala631fs) rs2075434480
NM_000466.3(PEX1):c.1895del (p.Leu632fs)
NM_000466.3(PEX1):c.1897C>T (p.Arg633Ter) rs61750409
NM_000466.3(PEX1):c.1897del (p.Arg633fs)
NM_000466.3(PEX1):c.1898G>A (p.Arg633Gln)
NM_000466.3(PEX1):c.1900+10T>C
NM_000466.3(PEX1):c.1900+10T>G rs2116175750
NM_000466.3(PEX1):c.1900+12G>A
NM_000466.3(PEX1):c.1900+13dup
NM_000466.3(PEX1):c.1900+17_1900+20del
NM_000466.3(PEX1):c.1900+18C>G
NM_000466.3(PEX1):c.1900+18C>T
NM_000466.3(PEX1):c.1900+1G>A rs770447891
NM_000466.3(PEX1):c.1900+2T>C rs1562857198
NM_000466.3(PEX1):c.1900+4T>C rs2116175794
NM_000466.3(PEX1):c.1901-14T>C rs1792111444
NM_000466.3(PEX1):c.1901-17A>G
NM_000466.3(PEX1):c.1901-1G>T
NM_000466.3(PEX1):c.1901-2A>G
NM_000466.3(PEX1):c.1901-4T>C rs2116166425
NM_000466.3(PEX1):c.1901-7T>C
NM_000466.3(PEX1):c.1901G>A (p.Gly634Glu)
NM_000466.3(PEX1):c.1906_2064del (p.Arg636_Leu688del) rs1554372074
NM_000466.3(PEX1):c.1908del (p.Arg636fs) rs1057517478
NM_000466.3(PEX1):c.1916dup (p.Asn639fs) rs2116166262
NM_000466.3(PEX1):c.1918A>T (p.Ile640Leu)
NM_000466.3(PEX1):c.1921C>T (p.Gln641Ter) rs1057517464
NM_000466.3(PEX1):c.1926_1927delinsC (p.Lys642fs) rs1057517529
NM_000466.3(PEX1):c.1927del (p.Thr643fs) rs1554372180
NM_000466.3(PEX1):c.1927dup (p.Thr643fs) rs1554372180
NM_000466.3(PEX1):c.1928C>A (p.Thr643Asn)
NM_000466.3(PEX1):c.1929C>A (p.Thr643=) rs772780510
NM_000466.3(PEX1):c.1929C>T (p.Thr643=)
NM_000466.3(PEX1):c.192G>A (p.Arg64=)
NM_000466.3(PEX1):c.1930C>T (p.Leu644=) rs1168758164
NM_000466.3(PEX1):c.1933G>C (p.Glu645Gln)
NM_000466.3(PEX1):c.1935G>A (p.Glu645=)
NM_000466.3(PEX1):c.1946C>T (p.Ser649Leu)
NM_000466.3(PEX1):c.1947A>G (p.Ser649=)
NM_000466.3(PEX1):c.1949_1978delinsGGTTGACCTGAG (p.Glu650_Leu660delinsGlyLeuThrTer)
NM_000466.3(PEX1):c.1955del (p.Val652fs) rs2116165935
NM_000466.3(PEX1):c.1956G>A (p.Val652=)
NM_000466.3(PEX1):c.1961_1962insCAGTGTGAA (p.Met654delinsIleSerValLys)
NM_000466.3(PEX1):c.1962G>A (p.Met654Ile)
NM_000466.3(PEX1):c.1963C>T (p.Gln655Ter) rs2116165809
NM_000466.3(PEX1):c.1964_1970dup (p.Val658fs) rs1057517486
NM_000466.3(PEX1):c.1968A>C (p.Pro656=)
NM_000466.3(PEX1):c.1970C>T (p.Ser657Phe)
NM_000466.3(PEX1):c.1975G>A (p.Val659Ile) rs193221288
NM_000466.3(PEX1):c.1975G>T (p.Val659Phe) rs193221288
NM_000466.3(PEX1):c.1977C>T (p.Val659=) rs2116165660
NM_000466.3(PEX1):c.1978C>G (p.Leu660Val) rs2116165647
NM_000466.3(PEX1):c.1987G>A (p.Asp663Asn)
NM_000466.3(PEX1):c.1989C>T (p.Asp663=) rs2116165541
NM_000466.3(PEX1):c.198T>C (p.Phe66=)
NM_000466.3(PEX1):c.1992T>C (p.Leu664=)
NM_000466.3(PEX1):c.199A>G (p.Ser67Gly)
NM_000466.3(PEX1):c.2001dup (p.Ala668fs)
NM_000466.3(PEX1):c.2007A>T (p.Gly669=)
NM_000466.3(PEX1):c.2010G>A (p.Leu670=) rs921615253
NM_000466.3(PEX1):c.2010G>C (p.Leu670=)
NM_000466.3(PEX1):c.2012C>G (p.Pro671Arg)
NM_000466.3(PEX1):c.2014G>A (p.Ala672Thr)
NM_000466.3(PEX1):c.2015C>A (p.Ala672Asp) rs897278975
NM_000466.3(PEX1):c.2019C>A (p.Val673=) rs368345209
NM_000466.3(PEX1):c.2019C>T (p.Val673=) rs368345209
NM_000466.3(PEX1):c.2022G>A (p.Pro674=)
NM_000466.3(PEX1):c.2022G>C (p.Pro674=)
NM_000466.3(PEX1):c.2024A>G (p.Glu675Gly) rs1792100189
NM_000466.3(PEX1):c.2034_2035del (p.His678fs) rs61750412
NM_000466.3(PEX1):c.2037T>C (p.Ser679=)
NM_000466.3(PEX1):c.2039_2050del (p.Pro680_Val683del) rs1554372090
NM_000466.3(PEX1):c.2039del (p.Pro680fs) rs1269903353
NM_000466.3(PEX1):c.2044G>A (p.Ala682Thr) rs2116165019
NM_000466.3(PEX1):c.2046G>C (p.Ala682=)
NM_000466.3(PEX1):c.2046G>T (p.Ala682=) rs144845259
NM_000466.3(PEX1):c.2049G>A (p.Val683=) rs769221282
NM_000466.3(PEX1):c.2050C>T (p.Gln684Ter)
NM_000466.3(PEX1):c.2059C>A (p.Arg687=) rs138008298
NM_000466.3(PEX1):c.205C>T (p.Gln69Ter)
NM_000466.3(PEX1):c.2060G>T (p.Arg687Leu)
NM_000466.3(PEX1):c.2067T>G (p.Ala689=) rs2116164733
NM_000466.3(PEX1):c.2069A>G (p.His690Arg)
NM_000466.3(PEX1):c.2071+11C>T
NM_000466.3(PEX1):c.2071+12C>T
NM_000466.3(PEX1):c.2071+14C>A
NM_000466.3(PEX1):c.2071+14C>T
NM_000466.3(PEX1):c.2071+15C>T
NM_000466.3(PEX1):c.2071+17C>T
NM_000466.3(PEX1):c.2071+2T>C rs1478905473
NM_000466.3(PEX1):c.2071+2T>G
NM_000466.3(PEX1):c.2071+3A>G rs1189294296
NM_000466.3(PEX1):c.2071+8C>A
NM_000466.3(PEX1):c.2071+9A>G rs2116164620
NM_000466.3(PEX1):c.2072-12_2072-9del
NM_000466.3(PEX1):c.2072-18T>C
NM_000466.3(PEX1):c.2072-1G>A
NM_000466.3(PEX1):c.2072-42_2085del rs1792018845
NM_000466.3(PEX1):c.2072-4C>T rs1792019918
NM_000466.3(PEX1):c.2072-8A>C rs2116156411
NM_000466.3(PEX1):c.2072-8A>G
NM_000466.3(PEX1):c.2083_2084del (p.Met695fs) rs2116156265
NM_000466.3(PEX1):c.2085_2089del (p.Met695fs) rs267608178
NM_000466.3(PEX1):c.2086A>G (p.Ile696Val) rs1792018651
NM_000466.3(PEX1):c.2093A>G (p.Glu698Gly) rs1792018002
NM_000466.3(PEX1):c.2094G>A (p.Glu698=) rs2116156123
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_000466.3(PEX1):c.2099T>C (p.Ile700Thr) rs1792017598
NM_000466.3(PEX1):c.2114T>G (p.Leu705Trp) rs863225084
NM_000466.3(PEX1):c.2115G>A (p.Leu705=)
NM_000466.3(PEX1):c.2122C>T (p.Leu708=)
NM_000466.3(PEX1):c.2126T>G (p.Ile709Ser)
NM_000466.3(PEX1):c.2135G>T (p.Ser712Ile)
NM_000466.3(PEX1):c.2137C>T (p.Gln713Ter) rs1057517468
NM_000466.3(PEX1):c.2140_2145dup (p.712_713SQ[3]) rs1554371691
NM_000466.3(PEX1):c.2142_2143del (p.Gln715fs)
NM_000466.3(PEX1):c.2145G>T (p.Gln715His) rs1292385792
NM_000466.3(PEX1):c.2146C>T (p.Gln716Ter)
NM_000466.3(PEX1):c.2148A>G (p.Gln716=) rs753358124
NM_000466.3(PEX1):c.2153T>C (p.Leu718Pro)
NM_000466.3(PEX1):c.2154A>T (p.Leu718=)
NM_000466.3(PEX1):c.2156del (p.His719fs)
NM_000466.3(PEX1):c.2162T>A (p.Leu721Ter) rs1792013985
NM_000466.3(PEX1):c.2162_2166del (p.Leu721fs) rs1057517499
NM_000466.3(PEX1):c.2164del (p.Val723fs) rs1792013807
NM_000466.3(PEX1):c.2165T>C (p.Leu722Pro)
NM_000466.3(PEX1):c.2175_2176del (p.Gln726fs)
NM_000466.3(PEX1):c.2176C>T (p.Gln726Ter) rs786205655
NM_000466.3(PEX1):c.2178A>C (p.Gln726His)
NM_000466.3(PEX1):c.217G>A (p.Val73Met)
NM_000466.3(PEX1):c.2187C>T (p.His729=) rs915908576
NM_000466.3(PEX1):c.218T>C (p.Val73Ala) rs1793077054
NM_000466.3(PEX1):c.2199C>A (p.Cys733Ter)
NM_000466.3(PEX1):c.2199C>T (p.Cys733=)
NM_000466.3(PEX1):c.2202C>T (p.Val734=)
NM_000466.3(PEX1):c.2205A>G (p.Gln735=) rs201308230
NM_000466.3(PEX1):c.2208C>T (p.His736=) rs1411832129
NM_000466.3(PEX1):c.2212_2213del (p.Gln738fs)
NM_000466.3(PEX1):c.2215C>T (p.Pro739Ser)
NM_000466.3(PEX1):c.2220T>G (p.Pro740=) rs2116155243
NM_000466.3(PEX1):c.2226+12C>T
NM_000466.3(PEX1):c.2226+7C>A rs371347250
NM_000466.3(PEX1):c.2226+7C>T
NM_000466.3(PEX1):c.2226+8A>G rs772716358
NM_000466.3(PEX1):c.2226+9C>G rs2116155119
NM_000466.3(PEX1):c.2226G>C (p.Gln742His)
NM_000466.3(PEX1):c.2227-11T>A rs760316851
NM_000466.3(PEX1):c.2227-13T>G rs2116149539
NM_000466.3(PEX1):c.2227-14G>T rs1791958426
NM_000466.3(PEX1):c.2227-1G>C
NM_000466.3(PEX1):c.2227-4T>C rs2116149447
NM_000466.3(PEX1):c.2227-4T>G
NM_000466.3(PEX1):c.2227G>A (p.Glu743Lys)
NM_000466.3(PEX1):c.2229A>G (p.Glu743=) rs2116149390
NM_000466.3(PEX1):c.2233A>T (p.Arg745Ter)
NM_000466.3(PEX1):c.2234del (p.Arg745fs)
NM_000466.3(PEX1):c.2240A>G (p.Glu747Gly)
NM_000466.3(PEX1):c.2241A>G (p.Glu747=) rs2116149299
NM_000466.3(PEX1):c.2249G>A (p.Cys750Tyr)
NM_000466.3(PEX1):c.2253T>C (p.Asn751=) rs769925670
NM_000466.3(PEX1):c.2256A>G (p.Val752=)
NM_000466.3(PEX1):c.2262_2264del (p.Lys754del) rs1554371157
NM_000466.3(PEX1):c.2268dup (p.Leu757fs)
NM_000466.3(PEX1):c.2275T>C (p.Cys759Arg)
NM_000466.3(PEX1):c.2276G>A (p.Cys759Tyr)
NM_000466.3(PEX1):c.2280_2281insG (p.Ile761fs)
NM_000466.3(PEX1):c.2284A>C (p.Asn762His)
NM_000466.3(PEX1):c.2292C>T (p.Phe764=)
NM_000466.3(PEX1):c.2298T>C (p.Asp766=) rs1585231825
NM_000466.3(PEX1):c.2306T>C (p.Leu769Pro) rs767182250
NM_000466.3(PEX1):c.2308C>T (p.Gln770Ter)
NM_000466.3(PEX1):c.230A>G (p.Asn77Ser)
NM_000466.3(PEX1):c.2310G>A (p.Gln770=)
NM_000466.3(PEX1):c.2312A>G (p.His771Arg) rs1791952164
NM_000466.3(PEX1):c.2313T>C (p.His771=) rs763463570
NM_000466.3(PEX1):c.231C>A (p.Asn77Lys)
NM_000466.3(PEX1):c.232A>C (p.Arg78=)
NM_000466.3(PEX1):c.2330_2331delinsA (p.Gly777fs) rs1791951634
NM_000466.3(PEX1):c.2334G>A (p.Gly778=)
NM_000466.3(PEX1):c.2334G>T (p.Gly778=)
NM_000466.3(PEX1):c.2336T>C (p.Phe779Ser)
NM_000466.3(PEX1):c.233G>C (p.Arg78Thr) rs2116268284
NM_000466.3(PEX1):c.2349T>C (p.Asp783=) rs2116148406
NM_000466.3(PEX1):c.2353_2355delinsT (p.Thr785fs)
NM_000466.3(PEX1):c.2359C>T (p.Leu787Phe)
NM_000466.3(PEX1):c.235C>G (p.Gln79Glu)
NM_000466.3(PEX1):c.2361del (p.Val788fs)
NM_000466.3(PEX1):c.2364G>A (p.Val788=)
NM_000466.3(PEX1):c.2369G>A (p.Arg790Gln)
NM_000466.3(PEX1):c.2377C>T (p.His793Tyr)
NM_000466.3(PEX1):c.2384G>A (p.Arg795Gln) rs368954584
NM_000466.3(PEX1):c.2389T>A (p.Ser797Thr) rs1024476499
NM_000466.3(PEX1):c.2391_2392del (p.Arg798fs) rs61750414
NM_000466.3(PEX1):c.2393G>A (p.Arg798His)
NM_000466.3(PEX1):c.2396dup (p.Ser800fs) rs778871894
NM_000466.3(PEX1):c.2397G>A (p.Gln799=)
NM_000466.3(PEX1):c.2400_2402dup (p.Ile801dup) rs1554371019
NM_000466.3(PEX1):c.2409C>T (p.Thr803=) rs1585231525
NM_000466.3(PEX1):c.2412A>G (p.Arg804=) rs1362565257
NM_000466.3(PEX1):c.2416+13A>G
NM_000466.3(PEX1):c.2416+1G>A
NM_000466.3(PEX1):c.2416+20C>A rs886038302
NM_000466.3(PEX1):c.2416+4T>C
NM_000466.3(PEX1):c.2417-10T>A
NM_000466.3(PEX1):c.2417-16_2417-13del rs1350018099
NM_000466.3(PEX1):c.2417-17dup
NM_000466.3(PEX1):c.2417-1G>T
NM_000466.3(PEX1):c.2417-20T>G
NM_000466.3(PEX1):c.2417-5A>G
NM_000466.3(PEX1):c.2417-7del
NM_000466.3(PEX1):c.2418A>G (p.Lys806=)
NM_000466.3(PEX1):c.2420T>A (p.Leu807Ter)
NM_000466.3(PEX1):c.2425T>C (p.Leu809=)
NM_000466.3(PEX1):c.2427A>C (p.Leu809Phe)
NM_000466.3(PEX1):c.2433A>G (p.Thr811=)
NM_000466.3(PEX1):c.2434T>C (p.Leu812=)
NM_000466.3(PEX1):c.2443C>G (p.Gln815Glu)
NM_000466.3(PEX1):c.2443C>T (p.Gln815Ter) rs1306607552
NM_000466.3(PEX1):c.2449G>A (p.Ala817Thr) rs2116145984
NM_000466.3(PEX1):c.244C>T (p.Gln82Ter)
NM_000466.3(PEX1):c.2458G>A (p.Gly820Arg)
NM_000466.3(PEX1):c.2464_2477dup (p.Leu826fs) rs1463323645
NM_000466.3(PEX1):c.2468C>T (p.Pro823Leu) rs2116145764
NM_000466.3(PEX1):c.2468del (p.Pro823fs) rs766947924
NM_000466.3(PEX1):c.2469T>G (p.Pro823=) rs1562853565
NM_000466.3(PEX1):c.2471del (p.Ala824fs) rs1585231093
NM_000466.3(PEX1):c.2472G>A (p.Ala824=) rs764437476
NM_000466.3(PEX1):c.2479C>T (p.Arg827Ter) rs1232449804
NM_000466.3(PEX1):c.2480G>A (p.Arg827Gln)
NM_000466.3(PEX1):c.2480G>C (p.Arg827Pro) rs752937649
NM_000466.3(PEX1):c.2480del (p.Arg827fs)
NM_000466.3(PEX1):c.2481A>G (p.Arg827=)
NM_000466.3(PEX1):c.2488_2489dup (p.Asn830fs) rs1554370868
NM_000466.3(PEX1):c.2489A>G (p.Asn830Ser)
NM_000466.3(PEX1):c.2489dup (p.Asn830fs) rs1554370868
NM_000466.3(PEX1):c.2490C>T (p.Asn830=)
NM_000466.3(PEX1):c.2491C>T (p.Leu831=) rs2116145518
NM_000466.3(PEX1):c.2492T>C (p.Leu831Pro)
NM_000466.3(PEX1):c.249_250insT (p.Leu84fs) rs1793076195
NM_000466.3(PEX1):c.249del (p.Lys83fs) rs1793076317
NM_000466.3(PEX1):c.2500C>A (p.Pro834Thr)
NM_000466.3(PEX1):c.2506G>C (p.Asp836His)
NM_000466.3(PEX1):c.2516G>A (p.Trp839Ter) rs2116145324
NM_000466.3(PEX1):c.2527G>A (p.Gly843Ser)
NM_000466.3(PEX1):c.252T>C (p.Leu84=) rs774698687
NM_000466.3(PEX1):c.252T>G (p.Leu84=) rs774698687
NM_000466.3(PEX1):c.2532G>A (p.Gly844=)
NM_000466.3(PEX1):c.2533T>C (p.Leu845=) rs1585230931
NM_000466.3(PEX1):c.2536C>T (p.His846Tyr) rs2116145200
NM_000466.3(PEX1):c.2538T>C (p.His846=) rs2116145185
NM_000466.3(PEX1):c.253G>T (p.Gly85Ter)
NM_000466.3(PEX1):c.2541A>G (p.Glu847=) rs1585230922
NM_000466.3(PEX1):c.2550G>A (p.Gln850=) rs2116145108
NM_000466.3(PEX1):c.2550dup (p.Ile851fs) rs2116145117
NM_000466.3(PEX1):c.2553A>C (p.Ile851=) rs2116145089
NM_000466.3(PEX1):c.2556C>T (p.Leu852=)
NM_000466.3(PEX1):c.2565T>G (p.Thr855=) rs1472376635
NM_000466.3(PEX1):c.2575C>A (p.Pro859Thr)
NM_000466.3(PEX1):c.2576_2578delinsTT (p.Pro859fs)
NM_000466.3(PEX1):c.2578del (p.Ala860fs)
NM_000466.3(PEX1):c.2582del (p.Lys861fs)
NM_000466.3(PEX1):c.2583+12A>G
NM_000466.3(PEX1):c.2583+13A>T
NM_000466.3(PEX1):c.2583+14A>T
NM_000466.3(PEX1):c.2583+15A>C
NM_000466.3(PEX1):c.2583+15dup rs761003048
NM_000466.3(PEX1):c.2583+20A>G
NM_000466.3(PEX1):c.2583+9A>T rs1007607739
NM_000466.3(PEX1):c.2584-10T>C rs375129444
NM_000466.3(PEX1):c.2584-10del rs5885806
NM_000466.3(PEX1):c.2584-11T>G rs1443608242
NM_000466.3(PEX1):c.2584-11_2584-10del rs5885806
NM_000466.3(PEX1):c.2584-21_2584-20dup rs5885806
NM_000466.3(PEX1):c.2584-21dup rs5885806
NM_000466.3(PEX1):c.2584-22_2584-19del rs2116133655
NM_000466.3(PEX1):c.2584-6del rs745621383
NM_000466.3(PEX1):c.2586T>C (p.Tyr862=) rs2116133214
NM_000466.3(PEX1):c.2589A>G (p.Pro863=) rs2116133200
NM_000466.3(PEX1):c.258C>G (p.Leu86=)
NM_000466.3(PEX1):c.258C>T (p.Leu86=)
NM_000466.3(PEX1):c.2604C>T (p.Asn868=)
NM_000466.3(PEX1):c.260C>T (p.Ser87Leu)
NM_000466.3(PEX1):c.2614C>A (p.Arg872=) rs61750422
NM_000466.3(PEX1):c.2615G>A (p.Arg872Gln)
NM_000466.3(PEX1):c.2617C>T (p.Gln873Ter) rs1057517470
NM_000466.3(PEX1):c.2620A>G (p.Arg874Gly)
NM_000466.3(PEX1):c.2627G>T (p.Gly876Val) rs545382069
NM_000466.3(PEX1):c.2633TGT[1] (p.Leu879del) rs886043984
NM_000466.3(PEX1):c.2634G>A (p.Leu878=) rs1193232549
NM_000466.3(PEX1):c.2638T>A (p.Tyr880Asn)
NM_000466.3(PEX1):c.2646G>C (p.Pro882=) rs775421085
NM_000466.3(PEX1):c.2646G>T (p.Pro882=) rs775421085
NM_000466.3(PEX1):c.2651del (p.Gly884fs)
NM_000466.3(PEX1):c.2667A>T (p.Leu889Phe) rs2116132673
NM_000466.3(PEX1):c.2676G>A (p.Gly892=)
NM_000466.3(PEX1):c.2676G>C (p.Gly892=)
NM_000466.3(PEX1):c.2679A>G (p.Val893=)
NM_000466.3(PEX1):c.2686C>T (p.Arg896Ter) rs1057517485
NM_000466.3(PEX1):c.2687G>T (p.Arg896Leu)
NM_000466.3(PEX1):c.2689G>C (p.Glu897Gln) rs2116132462
NM_000466.3(PEX1):c.2692_2693del (p.Glu897_Ser898insTer) rs2116132444
NM_000466.3(PEX1):c.2693G>A (p.Ser898Asn) rs1791831263
NM_000466.3(PEX1):c.269del (p.Gly90fs) rs1275822594
NM_000466.3(PEX1):c.2701A>C (p.Asn901His)
NM_000466.3(PEX1):c.2706T>C (p.Phe902=) rs2116132336
NM_000466.3(PEX1):c.2712T>C (p.Ser904=)
NM_000466.3(PEX1):c.2714T>A (p.Val905Asp) rs2116132179
NM_000466.3(PEX1):c.2718+10C>T
NM_000466.3(PEX1):c.2718+13_2718+16del rs772364058
NM_000466.3(PEX1):c.2718+1G>A
NM_000466.3(PEX1):c.2719-12T>G
NM_000466.3(PEX1):c.2719-13_2719-12insA
NM_000466.3(PEX1):c.2719-14dup rs2116111355
NM_000466.3(PEX1):c.2719-15dup
NM_000466.3(PEX1):c.2719-17C>T rs916738277
NM_000466.3(PEX1):c.2719-18T>A
NM_000466.3(PEX1):c.2719-1G>T
NM_000466.3(PEX1):c.2719-2A>G rs1554369234
NM_000466.3(PEX1):c.2719-4A>G
NM_000466.3(PEX1):c.2719-5A>G
NM_000466.3(PEX1):c.2719-6C>T rs2116111275
NM_000466.3(PEX1):c.2721G>A (p.Gly907=)
NM_000466.3(PEX1):c.2723del (p.Pro908fs) rs1057517503
NM_000466.3(PEX1):c.2726A>G (p.Glu909Gly)
NM_000466.3(PEX1):c.2727G>A (p.Glu909=)
NM_000466.3(PEX1):c.273+10T>C rs1793073947
NM_000466.3(PEX1):c.273+11G>C
NM_000466.3(PEX1):c.273+1G>A rs1554376597
NM_000466.3(PEX1):c.273+20A>G
NM_000466.3(PEX1):c.273+2T>G
NM_000466.3(PEX1):c.273+4_273+7dup
NM_000466.3(PEX1):c.273+8C>A rs2116268020
NM_000466.3(PEX1):c.273+9A>G rs1585260775
NM_000466.3(PEX1):c.2738_2741dup (p.Tyr914Ter) rs2116110975
NM_000466.3(PEX1):c.274-11A>T
NM_000466.3(PEX1):c.274-13T>G
NM_000466.3(PEX1):c.274-2A>T
NM_000466.3(PEX1):c.2760del (p.Ala921fs) rs1256376226
NM_000466.3(PEX1):c.2761G>A (p.Ala921Thr) rs2116110846
NM_000466.3(PEX1):c.2766T>C (p.Val922=)
NM_000466.3(PEX1):c.2766T>G (p.Val922=) rs2116110796
NM_000466.3(PEX1):c.276A>T (p.Val92=)
NM_000466.3(PEX1):c.2770dup (p.Asp924fs)
NM_000466.3(PEX1):c.2772T>C (p.Asp924=)
NM_000466.3(PEX1):c.2783+10C>A rs766160850
NM_000466.3(PEX1):c.2783+18G>A
NM_000466.3(PEX1):c.2783+1del
NM_000466.3(PEX1):c.2783+20T>G
NM_000466.3(PEX1):c.2783+2T>C rs1585224312
NM_000466.3(PEX1):c.2783+6T>C rs1585224298
NM_000466.3(PEX1):c.2783+7A>T rs1791669532
NM_000466.3(PEX1):c.2783+8G>A rs2116110600
NM_000466.3(PEX1):c.2783+9C>T
NM_000466.3(PEX1):c.285G>A (p.Lys95=)
NM_000466.3(PEX1):c.287C>G (p.Pro96Arg) rs1562868017
NM_000466.3(PEX1):c.288A>G (p.Pro96=)
NM_000466.3(PEX1):c.296A>T (p.His99Leu) rs1562868002
NM_000466.3(PEX1):c.300_302del (p.Val101del)
NM_000466.3(PEX1):c.301G>A (p.Val101Ile) rs2116253380
NM_000466.3(PEX1):c.303A>G (p.Val101=)
NM_000466.3(PEX1):c.309T>C (p.Cys103=) rs575737926
NM_000466.3(PEX1):c.317T>G (p.Val106Gly)
NM_000466.3(PEX1):c.319G>A (p.Glu107Lys) rs1272833716
NM_000466.3(PEX1):c.323T>C (p.Val108Ala)
NM_000466.3(PEX1):c.333C>G (p.Leu111=) rs2116253163
NM_000466.3(PEX1):c.336A>G (p.Ser112=) rs1240957002
NM_000466.3(PEX1):c.337G>A (p.Ala113Thr)
NM_000466.3(PEX1):c.340G>T (p.Asp114Tyr)
NM_000466.3(PEX1):c.345T>C (p.Asp115=)
NM_000466.3(PEX1):c.346T>C (p.Trp116Arg)
NM_000466.3(PEX1):c.348G>A (p.Trp116Ter) rs1057517487
NM_000466.3(PEX1):c.351G>A (p.Glu117=)
NM_000466.3(PEX1):c.355C>T (p.Leu119=) rs2116253059
NM_000466.3(PEX1):c.357+1G>A rs866144313
NM_000466.3(PEX1):c.357+1G>C rs866144313
NM_000466.3(PEX1):c.357+1G>T rs866144313
NM_000466.3(PEX1):c.357+202_1170del
NM_000466.3(PEX1):c.358-10T>C
NM_000466.3(PEX1):c.358-13C>A
NM_000466.3(PEX1):c.358-17_358-14del rs1174720123
NM_000466.3(PEX1):c.358-1G>T rs1057517479
NM_000466.3(PEX1):c.358-20_358-19inv
NM_000466.3(PEX1):c.358-2A>C rs1057517500
NM_000466.3(PEX1):c.358-2A>G rs1057517500
NM_000466.3(PEX1):c.358-8G>C rs1585256094
NM_000466.3(PEX1):c.363G>A (p.Leu121=) rs200866361
NM_000466.3(PEX1):c.366T>C (p.His122=)
NM_000466.3(PEX1):c.370G>A (p.Val124Ile) rs1792895303
NM_000466.3(PEX1):c.379G>A (p.Glu127Lys)
NM_000466.3(PEX1):c.379del (p.Glu127fs)
NM_000466.3(PEX1):c.385C>T (p.His129Tyr)
NM_000466.3(PEX1):c.391C>T (p.Leu131=) rs2116249061
NM_000466.3(PEX1):c.393A>C (p.Leu131=) rs780791624
NM_000466.3(PEX1):c.396T>C (p.Asp132=) rs1225400009
NM_000466.3(PEX1):c.400A>G (p.Ile134Val) rs1346290048
NM_000466.3(PEX1):c.401T>C (p.Ile134Thr)
NM_000466.3(PEX1):c.403C>A (p.Arg135=) rs201415996
NM_000466.3(PEX1):c.403C>T (p.Arg135Ter) rs201415996
NM_000466.3(PEX1):c.423C>A (p.Ala141=) rs2116248825
NM_000466.3(PEX1):c.431C>T (p.Pro144Leu) rs1792891356
NM_000466.3(PEX1):c.431dup (p.Val145fs) rs1057517506
NM_000466.3(PEX1):c.434_448delinsGCAA (p.Val145fs)
NM_000466.3(PEX1):c.445C>A (p.Gln149Lys)
NM_000466.3(PEX1):c.452C>T (p.Thr151Met)
NM_000466.3(PEX1):c.453G>A (p.Thr151=) rs368714078
NM_000466.3(PEX1):c.453G>C (p.Thr151=) rs368714078
NM_000466.3(PEX1):c.455A>G (p.Tyr152Cys) rs1792889273
NM_000466.3(PEX1):c.468A>G (p.Gln156=) rs149729088
NM_000466.3(PEX1):c.472+10A>C
NM_000466.3(PEX1):c.472+10A>G rs1792887415
NM_000466.3(PEX1):c.472+16A>G
NM_000466.3(PEX1):c.472+19T>C rs1792886894
NM_000466.3(PEX1):c.472+1G>A rs762852144
NM_000466.3(PEX1):c.472+20T>A
NM_000466.3(PEX1):c.472+4G>A rs2116248481
NM_000466.3(PEX1):c.472+5G>A rs1792887658
NM_000466.3(PEX1):c.472+7G>A rs1017687646
NM_000466.3(PEX1):c.472+8C>T rs2116248438
NM_000466.3(PEX1):c.473-13A>C
NM_000466.3(PEX1):c.473-13dup
NM_000466.3(PEX1):c.473-14del rs1236657615
NM_000466.3(PEX1):c.473-16T>C
NM_000466.3(PEX1):c.473-1G>A rs1554375661
NM_000466.3(PEX1):c.473-1G>C rs1554375661
NM_000466.3(PEX1):c.473-7T>C rs1792881897
NM_000466.3(PEX1):c.475G>A (p.Ala159Thr) rs372455445
NM_000466.3(PEX1):c.475G>T (p.Ala159Ser) rs372455445
NM_000466.3(PEX1):c.477A>G (p.Ala159=) rs759628709
NM_000466.3(PEX1):c.478C>T (p.Leu160=)
NM_000466.3(PEX1):c.480A>G (p.Leu160=)
NM_000466.3(PEX1):c.484C>A (p.Pro162Thr)
NM_000466.3(PEX1):c.487G>C (p.Ala163Pro) rs750376002
NM_000466.3(PEX1):c.489T>G (p.Ala163=) rs1269219461
NM_000466.3(PEX1):c.496del (p.Tyr166fs)
NM_000466.3(PEX1):c.510_511insGTTATAAAATTTAT (p.Thr171fs)
NM_000466.3(PEX1):c.512_513delinsTTTAAACAAGCACTTCAAA (p.Thr171delinsIleTer)
NM_000466.3(PEX1):c.515A>T (p.Asp172Val)
NM_000466.3(PEX1):c.522A>G (p.Lys174=) rs2116247566
NM_000466.3(PEX1):c.532_533del (p.Gln178fs)
NM_000466.3(PEX1):c.535C>T (p.Pro179Ser) rs760387811
NM_000466.3(PEX1):c.538_541dup (p.Thr181fs) rs1792878019
NM_000466.3(PEX1):c.540G>A (p.Lys180=) rs1418653170
NM_000466.3(PEX1):c.545G>A (p.Arg182His)
NM_000466.3(PEX1):c.545G>C (p.Arg182Pro) rs199591182
NM_000466.3(PEX1):c.548G>A (p.Arg183Gln)
NM_000466.3(PEX1):c.556G>T (p.Glu186Ter)
NM_000466.3(PEX1):c.561T>G (p.Asn187Lys) rs944593088
NM_000466.3(PEX1):c.564A>G (p.Thr188=)
NM_000466.3(PEX1):c.564A>T (p.Thr188=) rs2116247151
NM_000466.3(PEX1):c.568del (p.Ser190fs)
NM_000466.3(PEX1):c.569C>A (p.Ser190Ter) rs1554375599
NM_000466.3(PEX1):c.570A>G (p.Ser190=) rs977095522
NM_000466.3(PEX1):c.570A>T (p.Ser190=) rs977095522
NM_000466.3(PEX1):c.573del (p.Ala192fs) rs1585255490
NM_000466.3(PEX1):c.576T>G (p.Ala192=) rs1585255480
NM_000466.3(PEX1):c.578A>G (p.Asp193Gly) rs886062507
NM_000466.3(PEX1):c.601A>G (p.Ser201Gly)
NM_000466.3(PEX1):c.607G>T (p.Gly203Ter) rs1472300213
NM_000466.3(PEX1):c.608G>A (p.Gly203Glu) rs755103969
NM_000466.3(PEX1):c.617A>G (p.Gln206Arg)
NM_000466.3(PEX1):c.621A>G (p.Lys207=)
NM_000466.3(PEX1):c.629_630delinsA (p.Met210fs)
NM_000466.3(PEX1):c.631A>G (p.Lys211Glu)
NM_000466.3(PEX1):c.642A>C (p.Gln214His) rs760441307
NM_000466.3(PEX1):c.642A>G (p.Gln214=)
NM_000466.3(PEX1):c.643_647del (p.Thr215fs) rs786204544
NM_000466.3(PEX1):c.645C>A (p.Thr215=) rs151041559
NM_000466.3(PEX1):c.647A>G (p.Lys216Arg) rs1792871862
NM_000466.3(PEX1):c.648G>A (p.Lys216=) rs1289765250
NM_000466.3(PEX1):c.651dup (p.Leu218fs)
NM_000466.3(PEX1):c.652C>G (p.Leu218Val) rs1226753246
NM_000466.3(PEX1):c.654T>C (p.Leu218=) rs2116246535
NM_000466.3(PEX1):c.657_660del (p.Ser220fs) rs786205656
NM_000466.3(PEX1):c.659C>A (p.Ser220Ter)
NM_000466.3(PEX1):c.660A>G (p.Ser220=) rs2116246458
NM_000466.3(PEX1):c.660delinsTGTGGG (p.Asn221fs)
NM_000466.3(PEX1):c.686A>G (p.Asn229Ser)
NM_000466.3(PEX1):c.699A>G (p.Ser233=) rs2116246198
NM_000466.3(PEX1):c.704T>C (p.Ile235Thr)
NM_000466.3(PEX1):c.705T>A (p.Ile235=)
NM_000466.3(PEX1):c.711T>A (p.Val237=) rs758443247
NM_000466.3(PEX1):c.716C>G (p.Ser239Ter)
NM_000466.3(PEX1):c.716C>T (p.Ser239Leu)
NM_000466.3(PEX1):c.717A>G (p.Ser239=) rs2116246138
NM_000466.3(PEX1):c.720A>G (p.Ser240=)
NM_000466.3(PEX1):c.723A>G (p.Ser241=) rs2116246060
NM_000466.3(PEX1):c.726A>G (p.Val242=)
NM_000466.3(PEX1):c.734del (p.Leu245fs) rs1057517522
NM_000466.3(PEX1):c.742A>C (p.Met248Leu)
NM_000466.3(PEX1):c.757_758delinsA (p.Phe253fs)
NM_000466.3(PEX1):c.760dup (p.Ser254fs) rs1554375511
NM_000466.3(PEX1):c.768A>G (p.Gln256=)
NM_000466.3(PEX1):c.777G>A (p.Lys259=)
NM_000466.3(PEX1):c.786_787del (p.Glu262fs) rs2116245705
NM_000466.3(PEX1):c.788_789del (p.Thr263fs) rs61750404
NM_000466.3(PEX1):c.789A>G (p.Thr263=) rs564163221
NM_000466.3(PEX1):c.791C>T (p.Ser264Phe)
NM_000466.3(PEX1):c.792T>C (p.Ser264=)
NM_000466.3(PEX1):c.794G>A (p.Trp265Ter)
NM_000466.3(PEX1):c.805_806del (p.Glu269fs)
NM_000466.3(PEX1):c.810C>T (p.Ile270=) rs2116245536
NM_000466.3(PEX1):c.813T>C (p.Asn271=) rs1177803945
NM_000466.3(PEX1):c.816A>G (p.Ala272=) rs2116245440
NM_000466.3(PEX1):c.819_835delinsGTCT (p.Phe273fs) rs1792860966
NM_000466.3(PEX1):c.821_824del (p.Lys274fs)
NM_000466.3(PEX1):c.829C>T (p.Gln277Ter)
NM_000466.3(PEX1):c.831_834del (p.Ser278fs) rs2116245323
NM_000466.3(PEX1):c.833C>G (p.Ser278Ter)
NM_000466.3(PEX1):c.840T>C (p.Val280=)
NM_000466.3(PEX1):c.849A>G (p.Leu283=)
NM_000466.3(PEX1):c.851A>G (p.Asp284Gly)
NM_000466.3(PEX1):c.852C>A (p.Asp284Glu) rs1792859390
NM_000466.3(PEX1):c.859T>G (p.Phe287Val) rs1792858913
NM_000466.3(PEX1):c.877C>T (p.Gln293Ter)
NM_000466.3(PEX1):c.881C>G (p.Pro294Arg)
NM_000466.3(PEX1):c.882T>A (p.Pro294=)
NM_000466.3(PEX1):c.885T>C (p.Pro295=)
NM_000466.3(PEX1):c.892_895dup (p.Asn299delinsIleTer) rs1057517505
NM_000466.3(PEX1):c.894del (p.Ile297_Tyr298insTer)
NM_000466.3(PEX1):c.896A>G (p.Asn299Ser)
NM_000466.3(PEX1):c.898G>T (p.Ala300Ser) rs751506204
NM_000466.3(PEX1):c.899C>T (p.Ala300Val)
NM_000466.3(PEX1):c.903A>T (p.Ser301=) rs2116244706
NM_000466.3(PEX1):c.906A>C (p.Ala302=) rs2116244665
NM_000466.3(PEX1):c.907A>G (p.Thr303Ala)
NM_000466.3(PEX1):c.90C>T (p.His30=)
NM_000466.3(PEX1):c.911_912del (p.Ser304fs) rs786204638
NM_000466.3(PEX1):c.912dup (p.Val305fs)
NM_000466.3(PEX1):c.920A>C (p.His307Pro)
NM_000466.3(PEX1):c.920A>G (p.His307Arg)
NM_000466.3(PEX1):c.927C>G (p.His309Gln) rs2116244426
NM_000466.3(PEX1):c.930_931del (p.Ala311fs)
NM_000466.3(PEX1):c.933C>T (p.Ala311=)
NM_000466.3(PEX1):c.942A>G (p.Val314=)
NM_000466.3(PEX1):c.945T>G (p.Phe315Leu) rs1792852764
NM_000466.3(PEX1):c.947C>T (p.Pro316Leu) rs1296643317
NM_000466.3(PEX1):c.948A>G (p.Pro316=) rs780966702
NM_000466.3(PEX1):c.951G>A (p.Trp317Ter)
NM_000466.3(PEX1):c.955C>T (p.Gln319Ter) rs2116244185
NM_000466.3(PEX1):c.968A>T (p.Asp323Val)
NM_000466.3(PEX1):c.969T>C (p.Asp323=) rs2116244121
NM_000466.3(PEX1):c.96G>A (p.Pro32=) rs1445565547
NM_000466.3(PEX1):c.973G>C (p.Glu325Gln)
NM_000466.3(PEX1):c.977C>T (p.Pro326Leu) rs1341957716
NM_000466.3(PEX1):c.978C>T (p.Pro326=)
NM_000466.3(PEX1):c.97C>T (p.Arg33Trp)
NM_000466.3(PEX1):c.981C>G (p.Ser327Arg) rs370441413
NM_000466.3(PEX1):c.984T>C (p.Phe328=)
NM_000466.3(PEX1):c.995_996del (p.Tyr332fs)
NM_000466.3(PEX1):c.996T>C (p.Tyr332=)

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