ClinVar Miner

List of variants reported as uncertain significance for Zellweger spectrum disorders

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 608
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HGVS dbSNP gnomAD frequency
NM_002617.4(PEX10):c.601-27A>G rs144264865 0.00091
NM_002617.4(PEX10):c.418G>C (p.Gly140Arg) rs76530653 0.00045
NM_000318.3(PEX2):c.282A>T (p.Arg94Ser) rs140963177 0.00041
NM_000318.3(PEX2):c.322G>C (p.Val108Leu) rs148101729 0.00041
NM_000287.4(PEX6):c.1757C>T (p.Ala586Val) rs146416679 0.00039
NM_000287.4(PEX6):c.503C>T (p.Pro168Leu) rs200026148 0.00037
NM_002617.4(PEX10):c.812C>T (p.Pro271Leu) rs142088776 0.00034
NM_000466.3(PEX1):c.3503A>G (p.Asp1168Gly) rs182452430 0.00032
NM_000318.3(PEX2):c.304C>A (p.Gln102Lys) rs200065382 0.00030
NM_000466.3(PEX1):c.1360-7C>T rs371890000 0.00029
NM_000466.3(PEX1):c.3044A>C (p.Glu1015Ala) rs185181696 0.00029
NM_002617.4(PEX10):c.316C>T (p.Leu106=) rs140340426 0.00029
NM_000287.4(PEX6):c.1670A>G (p.Asn557Ser) rs138621982 0.00027
NM_000318.3(PEX2):c.447T>G (p.Gly149=) rs375401977 0.00027
NM_002617.4(PEX10):c.622G>A (p.Gly208Arg) rs138489241 0.00025
NM_000287.4(PEX6):c.488G>C (p.Arg163Pro) rs778791031 0.00023
NM_000318.3(PEX2):c.698G>A (p.Ser233Asn) rs200868032 0.00022
NM_000466.3(PEX1):c.1725G>A (p.Leu575=) rs150667796 0.00022
NM_000287.4(PEX6):c.1884+3G>A rs377041406 0.00021
NM_000466.3(PEX1):c.2045C>T (p.Ala682Val) rs145350631 0.00021
NM_000466.3(PEX1):c.3106G>T (p.Ala1036Ser) rs754130942 0.00021
NM_000287.4(PEX6):c.617G>A (p.Gly206Glu) rs139093654 0.00018
NM_000466.3(PEX1):c.3281A>G (p.Asp1094Gly) rs539784253 0.00018
NM_002617.4(PEX10):c.27G>A (p.Pro9=) rs559431523 0.00018
NM_000287.4(PEX6):c.1081A>G (p.Thr361Ala) rs146025917 0.00016
NM_000466.3(PEX1):c.2558T>C (p.Met853Thr) rs143283146 0.00016
NM_000466.3(PEX1):c.627G>A (p.Met209Ile) rs200752969 0.00016
NM_000287.4(PEX6):c.543G>A (p.Val181=) rs368560418 0.00015
NM_000466.3(PEX1):c.2200G>A (p.Val734Ile) rs141510219 0.00015
NM_000466.3(PEX1):c.1249G>A (p.Asp417Asn) rs143273433 0.00014
NM_002617.4(PEX10):c.275G>A (p.Arg92His) rs375649043 0.00014
NM_002617.4(PEX10):c.967C>T (p.Arg323Trp) rs148903253 0.00014
NM_000287.4(PEX6):c.2534T>C (p.Ile845Thr) rs61753226 0.00013
NM_000287.4(PEX6):c.1606C>T (p.Arg536Trp) rs368752843 0.00011
NM_000287.4(PEX6):c.740C>G (p.Pro247Arg) rs199697021 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.891A>G (p.Ile297Met) rs143206380 0.00011
NM_002617.4(PEX10):c.915G>A (p.Ala305=) rs374891812 0.00011
NM_000287.4(PEX6):c.2783G>A (p.Arg928His) rs201265954 0.00010
NM_000318.3(PEX2):c.152G>A (p.Arg51His) rs549242503 0.00010
NM_000287.4(PEX6):c.1082C>T (p.Thr361Ile) rs145335409 0.00009
NM_000287.4(PEX6):c.1607G>A (p.Arg536Gln) rs138431842 0.00009
NM_000318.3(PEX2):c.288G>A (p.Gln96=) rs370236723 0.00009
NM_000466.3(PEX1):c.2954G>A (p.Arg985His) rs202057449 0.00009
NM_000466.3(PEX1):c.3650T>G (p.Met1217Arg) rs200306465 0.00009
NM_002617.4(PEX10):c.220G>A (p.Val74Ile) rs768438726 0.00009
NM_000287.4(PEX6):c.1387A>G (p.Thr463Ala) rs182308788 0.00008
NM_000466.3(PEX1):c.2876G>A (p.Arg959Gln) rs773206107 0.00008
NM_000466.3(PEX1):c.3130G>A (p.Gly1044Arg) rs371136331 0.00008
NM_000466.3(PEX1):c.3398C>T (p.Ser1133Phe) rs185115432 0.00008
NM_000466.3(PEX1):c.3610A>G (p.Lys1204Glu) rs145980902 0.00008
NM_002617.4(PEX10):c.427C>T (p.Arg143Cys) rs199667764 0.00008
NM_000287.4(PEX6):c.2104G>A (p.Val702Met) rs377421228 0.00007
NM_000318.3(PEX2):c.769A>G (p.Ile257Val) rs199874465 0.00007
NM_000466.3(PEX1):c.1369A>G (p.Ile457Val) rs561561515 0.00007
NM_000466.3(PEX1):c.2465T>G (p.Leu822Arg) rs545731416 0.00007
NM_000466.3(PEX1):c.2615G>A (p.Arg872Gln) rs139797041 0.00007
NM_000466.3(PEX1):c.3416G>A (p.Gly1139Glu) rs750447182 0.00007
NM_002617.4(PEX10):c.725G>A (p.Arg242Gln) rs142257121 0.00007
NM_002617.4(PEX10):c.779C>A (p.Ala260Asp) rs747171383 0.00007
NM_002617.4(PEX10):c.839G>A (p.Arg280His) rs758678654 0.00007
NM_000287.4(PEX6):c.1550G>A (p.Arg517Gln) rs371782808 0.00006
NM_000287.4(PEX6):c.1636C>T (p.Arg546Cys) rs750452619 0.00006
NM_000318.3(PEX2):c.892G>A (p.Glu298Lys) rs544763390 0.00006
NM_000466.3(PEX1):c.1717A>G (p.Ser573Gly) rs774417644 0.00006
NM_000466.3(PEX1):c.2021C>T (p.Pro674Leu) rs141509344 0.00006
NM_000466.3(PEX1):c.2842C>T (p.Arg948Trp) rs374167385 0.00006
NM_000466.3(PEX1):c.2843G>A (p.Arg948Gln) rs535271603 0.00006
NM_000466.3(PEX1):c.3549G>C (p.Glu1183Asp) rs746068061 0.00006
NM_000466.3(PEX1):c.674T>A (p.Ile225Asn) rs372485912 0.00006
NM_000287.4(PEX6):c.1613G>A (p.Arg538His) rs559048081 0.00005
NM_000287.4(PEX6):c.2662C>T (p.Arg888Cys) rs148251960 0.00005
NM_000287.4(PEX6):c.2924G>T (p.Arg975Leu) rs757254854 0.00005
NM_000466.3(PEX1):c.1284C>T (p.Ala428=) rs145153467 0.00005
NM_000466.3(PEX1):c.147G>A (p.Val49=) rs202230667 0.00005
NM_000466.3(PEX1):c.2057A>G (p.Gln686Arg) rs201016626 0.00005
NM_000466.3(PEX1):c.2953C>T (p.Arg985Cys) rs371988432 0.00005
NM_000466.3(PEX1):c.305C>A (p.Ser102Tyr) rs143369243 0.00005
NM_000466.3(PEX1):c.3623G>A (p.Arg1208Gln) rs767337582 0.00005
NM_002617.4(PEX10):c.144G>A (p.Glu48=) rs141263967 0.00005
NM_002617.4(PEX10):c.547T>G (p.Tyr183Asp) rs780485807 0.00005
NM_002617.4(PEX10):c.605G>A (p.Arg202His) rs371979619 0.00005
NM_002617.4(PEX10):c.640C>T (p.Arg214Cys) rs536486149 0.00005
NM_002617.4(PEX10):c.771C>T (p.His257=) rs776503441 0.00005
NM_000287.4(PEX6):c.1150A>C (p.Lys384Gln) rs769388552 0.00004
NM_000287.4(PEX6):c.2357G>A (p.Arg786Gln) rs758572546 0.00004
NM_000287.4(PEX6):c.657G>A (p.Gln219=) rs375588028 0.00004
NM_000318.3(PEX2):c.404T>C (p.Val135Ala) rs549932565 0.00004
NM_000318.3(PEX2):c.705T>A (p.Asn235Lys) rs747222660 0.00004
NM_000318.3(PEX2):c.826G>C (p.Val276Leu) rs746008519 0.00004
NM_000466.3(PEX1):c.1271T>C (p.Ile424Thr) rs201807430 0.00004
NM_000466.3(PEX1):c.2059C>T (p.Arg687Trp) rs138008298 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.3379C>T (p.Arg1127Trp) rs769066970 0.00004
NM_000466.3(PEX1):c.889A>G (p.Ile297Val) rs181796768 0.00004
NM_000466.3(PEX1):c.952G>A (p.Asp318Asn) rs754893068 0.00004
NM_000466.3(PEX1):c.973G>C (p.Glu325Gln) rs143929592 0.00004
NM_002617.4(PEX10):c.776+5G>A rs747776170 0.00004
NM_000287.4(PEX6):c.1195G>A (p.Ala399Thr) rs564483086 0.00003
NM_000287.4(PEX6):c.1207G>A (p.Asp403Asn) rs535326039 0.00003
NM_000287.4(PEX6):c.122G>A (p.Arg41Lys) rs372033738 0.00003
NM_000287.4(PEX6):c.1255G>C (p.Val419Leu) rs773054165 0.00003
NM_000287.4(PEX6):c.1405C>T (p.Arg469Trp) rs757334412 0.00003
NM_000287.4(PEX6):c.1495C>T (p.Leu499Phe) rs769207892 0.00003
NM_000287.4(PEX6):c.152C>A (p.Ala51Glu) rs931068715 0.00003
NM_000287.4(PEX6):c.1549C>T (p.Arg517Trp) rs754790139 0.00003
NM_000287.4(PEX6):c.2108C>T (p.Ser703Phe) rs1390565278 0.00003
NM_000287.4(PEX6):c.2254C>G (p.Leu752Val) rs374975985 0.00003
NM_000287.4(PEX6):c.2736G>A (p.Ala912=) rs202049230 0.00003
NM_000287.4(PEX6):c.2866G>A (p.Ala956Thr) rs774145857 0.00003
NM_000287.4(PEX6):c.411G>A (p.Arg137=) rs769196737 0.00003
NM_000287.4(PEX6):c.412G>A (p.Val138Met) rs763313055 0.00003
NM_000287.4(PEX6):c.781C>T (p.Pro261Ser) rs758866060 0.00003
NM_000318.3(PEX2):c.139G>A (p.Gly47Arg) rs138590115 0.00003
NM_000318.3(PEX2):c.140G>C (p.Gly47Ala) rs750212948 0.00003
NM_000318.3(PEX2):c.374G>A (p.Arg125Gln) rs199845625 0.00003
NM_000318.3(PEX2):c.551G>A (p.Cys184Tyr) rs1266603500 0.00003
NM_000466.3(PEX1):c.1193T>A (p.Ile398Asn) rs775546711 0.00003
NM_000466.3(PEX1):c.148G>A (p.Val50Ile) rs768702189 0.00003
NM_000466.3(PEX1):c.1690G>A (p.Val564Ile) rs183965018 0.00003
NM_000466.3(PEX1):c.1772G>A (p.Arg591Lys) rs754337792 0.00003
NM_000466.3(PEX1):c.1913A>C (p.Glu638Ala) rs775544654 0.00003
NM_000466.3(PEX1):c.2240A>C (p.Glu747Ala) rs200207576 0.00003
NM_000466.3(PEX1):c.2393G>A (p.Arg798His) rs535789511 0.00003
NM_000466.3(PEX1):c.2719-4A>G rs762436079 0.00003
NM_000466.3(PEX1):c.2879T>C (p.Val960Ala) rs144649949 0.00003
NM_000466.3(PEX1):c.3566C>T (p.Thr1189Ile) rs749324355 0.00003
NM_000466.3(PEX1):c.544C>T (p.Arg182Cys) rs771535312 0.00003
NM_000466.3(PEX1):c.611G>A (p.Arg204Lys) rs369126779 0.00003
NM_002617.4(PEX10):c.111G>T (p.Ala37=) rs1227962505 0.00003
NM_002617.4(PEX10):c.247C>T (p.Arg83Trp) rs377135853 0.00003
NM_002617.4(PEX10):c.271C>T (p.Arg91Cys) rs747921371 0.00003
NM_002617.4(PEX10):c.533A>G (p.His178Arg) rs1643081768 0.00003
NM_002617.4(PEX10):c.652_657dup (p.Arg218_Leu219dup) rs1432526114 0.00003
NM_002617.4(PEX10):c.724C>T (p.Arg242Trp) rs745818681 0.00003
NM_002617.4(PEX10):c.864C>T (p.Cys288=) rs762621687 0.00003
NM_000287.4(PEX6):c.1556G>A (p.Arg519His) rs368356719 0.00002
NM_000287.4(PEX6):c.1992G>C (p.Glu664Asp) rs267608230 0.00002
NM_000287.4(PEX6):c.2579G>A (p.Arg860Gln) rs61753231 0.00002
NM_000287.4(PEX6):c.743G>T (p.Arg248Leu) rs368481812 0.00002
NM_000287.4(PEX6):c.832G>A (p.Ala278Thr) rs370456987 0.00002
NM_000287.4(PEX6):c.904G>A (p.Ala302Thr) rs368503571 0.00002
NM_000466.3(PEX1):c.1240A>G (p.Ile414Val) rs759491353 0.00002
NM_000466.3(PEX1):c.134A>G (p.Gln45Arg) rs758309091 0.00002
NM_000466.3(PEX1):c.1535A>T (p.Asp512Val) rs1360273158 0.00002
NM_000466.3(PEX1):c.1898G>A (p.Arg633Gln) rs921223589 0.00002
NM_000466.3(PEX1):c.1952_1960dup (p.Trp653_Met654insThrValTrp) rs398123408 0.00002
NM_000466.3(PEX1):c.2336T>C (p.Phe779Ser) rs1003716485 0.00002
NM_000466.3(PEX1):c.2455C>T (p.Arg819Cys) rs983157165 0.00002
NM_000466.3(PEX1):c.2456G>A (p.Arg819His) rs376273608 0.00002
NM_000466.3(PEX1):c.2744T>C (p.Ile915Thr) rs757305859 0.00002
NM_000466.3(PEX1):c.2929G>A (p.Val977Ile) rs200453149 0.00002
NM_000466.3(PEX1):c.3344A>G (p.Glu1115Gly) rs762474729 0.00002
NM_000466.3(PEX1):c.3428C>G (p.Ser1143Cys) rs1198978658 0.00002
NM_000466.3(PEX1):c.3485C>G (p.Pro1162Arg) rs139869362 0.00002
NM_000466.3(PEX1):c.445C>A (p.Gln149Lys) rs780639043 0.00002
NM_000466.3(PEX1):c.608G>A (p.Gly203Glu) rs755103969 0.00002
NM_000466.3(PEX1):c.686A>G (p.Asn229Ser) rs549831908 0.00002
NM_000466.3(PEX1):c.920A>C (p.His307Pro) rs563671482 0.00002
NM_002617.4(PEX10):c.447G>A (p.Thr149=) rs759220912 0.00002
NM_002617.4(PEX10):c.470G>A (p.Arg157Lys) rs772618705 0.00002
NM_002617.4(PEX10):c.601-29T>C rs1195070492 0.00002
NM_002617.4(PEX10):c.782C>G (p.Ser261Cys) rs1208669638 0.00002
NM_002617.4(PEX10):c.823C>T (p.Leu275=) rs752928632 0.00002
NM_002617.4(PEX10):c.857C>T (p.Thr286Met) rs774205482 0.00002
NM_002617.4(PEX10):c.865G>A (p.Gly289Ser) rs556603981 0.00002
NM_000287.4(PEX6):c.1027C>T (p.Arg343Trp) rs977542433 0.00001
NM_000287.4(PEX6):c.1236G>A (p.Val412=) rs1196012985 0.00001
NM_000287.4(PEX6):c.1406G>A (p.Arg469Gln) rs773105735 0.00001
NM_000287.4(PEX6):c.1417G>A (p.Gly473Ser) rs774874010 0.00001
NM_000287.4(PEX6):c.1810A>G (p.Ile604Val) rs370855809 0.00001
NM_000287.4(PEX6):c.1931G>A (p.Arg644Gln) rs746117128 0.00001
NM_000287.4(PEX6):c.202G>A (p.Gly68Ser) rs752644254 0.00001
NM_000287.4(PEX6):c.2078C>A (p.Ala693Asp) rs748535121 0.00001
NM_000287.4(PEX6):c.2142G>T (p.Lys714Asn) rs371619603 0.00001
NM_000287.4(PEX6):c.2347G>A (p.Glu783Lys) rs757161798 0.00001
NM_000287.4(PEX6):c.2359G>A (p.Glu787Lys) rs202019439 0.00001
NM_000287.4(PEX6):c.2441G>A (p.Arg814Gln) rs757780839 0.00001
NM_000287.4(PEX6):c.2512A>G (p.Ser838Gly) rs759682469 0.00001
NM_000287.4(PEX6):c.2585G>T (p.Gly862Val) rs764227040 0.00001
NM_000287.4(PEX6):c.2626C>T (p.Arg876Trp) rs267608246 0.00001
NM_000287.4(PEX6):c.2643C>T (p.Arg881=) rs150853105 0.00001
NM_000287.4(PEX6):c.2729C>T (p.Thr910Met) rs762089817 0.00001
NM_000287.4(PEX6):c.2891dup (p.Gln965fs) rs753862792 0.00001
NM_000287.4(PEX6):c.407C>A (p.Pro136Gln) rs376824422 0.00001
NM_000287.4(PEX6):c.410G>A (p.Arg137Gln) rs1254025750 0.00001
NM_000287.4(PEX6):c.686G>A (p.Arg229Lys) rs1260446318 0.00001
NM_000287.4(PEX6):c.901A>G (p.Ile301Val) rs578234477 0.00001
NM_000318.3(PEX2):c.129A>G (p.Gly43=) rs779946897 0.00001
NM_000318.3(PEX2):c.23C>T (p.Ala8Val) rs148428490 0.00001
NM_000318.3(PEX2):c.312C>G (p.Ile104Met) rs1242924229 0.00001
NM_000318.3(PEX2):c.331A>G (p.Ile111Val) rs774994658 0.00001
NM_000318.3(PEX2):c.461T>C (p.Phe154Ser) rs755169713 0.00001
NM_000318.3(PEX2):c.466A>G (p.Ile156Val) rs148972539 0.00001
NM_000318.3(PEX2):c.54C>A (p.Ser18Arg) rs545785018 0.00001
NM_000318.3(PEX2):c.716C>T (p.Thr239Ile) rs1264938864 0.00001
NM_000318.3(PEX2):c.742G>A (p.Gly248Arg) rs1277419329 0.00001
NM_000318.3(PEX2):c.76A>G (p.Asn26Asp) rs977528373 0.00001
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.1135G>A (p.Glu379Lys) rs763604547 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.119A>G (p.His40Arg) rs766254587 0.00001
NM_000466.3(PEX1):c.1214A>C (p.Glu405Ala) rs1171646215 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.1324C>T (p.Pro442Ser) rs560969584 0.00001
NM_000466.3(PEX1):c.1343A>T (p.Gln448Leu) rs774317392 0.00001
NM_000466.3(PEX1):c.1359+15A>G rs1216417031 0.00001
NM_000466.3(PEX1):c.1397T>G (p.Phe466Cys) rs1040716320 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.1417T>C (p.Ser473Pro) rs1474508557 0.00001
NM_000466.3(PEX1):c.1484-4A>G rs1362737916 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.1562A>G (p.Asn521Ser) rs750409422 0.00001
NM_000466.3(PEX1):c.1588-7A>G rs1433310327 0.00001
NM_000466.3(PEX1):c.15T>A (p.Asp5Glu) rs201385649 0.00001
NM_000466.3(PEX1):c.1603A>G (p.Met535Val) rs139853655 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.1639A>G (p.Ile547Val) rs892831590 0.00001
NM_000466.3(PEX1):c.1661G>A (p.Ser554Asn) rs2484681957 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.1741C>T (p.Arg581Trp) rs748239213 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.1810G>A (p.Gly604Arg) rs148427398 0.00001
NM_000466.3(PEX1):c.1834A>G (p.Ile612Val) rs763116900 0.00001
NM_000466.3(PEX1):c.1851T>A (p.Phe617Leu) rs762766482 0.00001
NM_000466.3(PEX1):c.1916A>T (p.Asn639Ile) rs200438144 0.00001
NM_000466.3(PEX1):c.1918A>T (p.Ile640Leu) rs759403845 0.00001
NM_000466.3(PEX1):c.1928C>A (p.Thr643Asn) rs748922613 0.00001
NM_000466.3(PEX1):c.1970C>T (p.Ser657Phe) rs1252704460 0.00001
NM_000466.3(PEX1):c.1987G>A (p.Asp663Asn) rs780226375 0.00001
NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro) rs121434455 0.00001
NM_000466.3(PEX1):c.2024A>G (p.Glu675Gly) rs1792100189 0.00001
NM_000466.3(PEX1):c.2071+3A>G rs1189294296 0.00001
NM_000466.3(PEX1):c.2135G>T (p.Ser712Ile) rs1281772090 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.217G>A (p.Val73Met) rs767929776 0.00001
NM_000466.3(PEX1):c.2195A>G (p.Gln732Arg) rs147069266 0.00001
NM_000466.3(PEX1):c.2226G>C (p.Gln742His) rs763753721 0.00001
NM_000466.3(PEX1):c.2278G>C (p.Asp760His) rs757149759 0.00001
NM_000466.3(PEX1):c.2359C>T (p.Leu787Phe) rs1482163833 0.00001
NM_000466.3(PEX1):c.2375T>C (p.Ile792Thr) rs747899377 0.00001
NM_000466.3(PEX1):c.2427A>C (p.Leu809Phe) rs1255735264 0.00001
NM_000466.3(PEX1):c.2458G>A (p.Gly820Arg) rs757702435 0.00001
NM_000466.3(PEX1):c.2480G>A (p.Arg827Gln) rs752937649 0.00001
NM_000466.3(PEX1):c.2489A>G (p.Asn830Ser) rs928440904 0.00001
NM_000466.3(PEX1):c.2500C>A (p.Pro834Thr) rs551870922 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.260C>T (p.Ser87Leu) rs939792327 0.00001
NM_000466.3(PEX1):c.2627G>T (p.Gly876Val) rs545382069 0.00001
NM_000466.3(PEX1):c.263A>T (p.Asn88Ile) rs763218526 0.00001
NM_000466.3(PEX1):c.2707A>G (p.Ile903Val) rs1009218596 0.00001
NM_000466.3(PEX1):c.2708T>A (p.Ile903Lys) rs1305700033 0.00001
NM_000466.3(PEX1):c.2743A>T (p.Ile915Phe) rs376029287 0.00001
NM_000466.3(PEX1):c.2767C>T (p.Arg923Trp) rs780992963 0.00001
NM_000466.3(PEX1):c.2783+4G>A rs751416309 0.00001
NM_000466.3(PEX1):c.2784-7T>C rs777893142 0.00001
NM_000466.3(PEX1):c.2789A>G (p.Gln930Arg) rs201376737 0.00001
NM_000466.3(PEX1):c.2833A>G (p.Ile945Val) rs753349772 0.00001
NM_000466.3(PEX1):c.289T>C (p.Cys97Arg) rs1792936652 0.00001
NM_000466.3(PEX1):c.2926+4A>G rs749060853 0.00001
NM_000466.3(PEX1):c.2942C>T (p.Ala981Val) rs780843399 0.00001
NM_000466.3(PEX1):c.2947A>C (p.Thr983Pro) rs1791533248 0.00001
NM_000466.3(PEX1):c.2993G>A (p.Arg998Gln) rs61750429 0.00001
NM_000466.3(PEX1):c.3007G>A (p.Val1003Ile) rs147055244 0.00001
NM_000466.3(PEX1):c.3068C>G (p.Ser1023Cys) rs547203417 0.00001
NM_000466.3(PEX1):c.3151C>A (p.Leu1051Ile) rs138992611 0.00001
NM_000466.3(PEX1):c.3208-3T>C rs763767937 0.00001
NM_000466.3(PEX1):c.3271A>G (p.Ser1091Gly) rs751747691 0.00001
NM_000466.3(PEX1):c.3280G>A (p.Asp1094Asn) rs1053411287 0.00001
NM_000466.3(PEX1):c.3304T>C (p.Cys1102Arg) rs752475812 0.00001
NM_000466.3(PEX1):c.3341C>T (p.Ser1114Phe) rs1791303972 0.00001
NM_000466.3(PEX1):c.3380G>A (p.Arg1127Gln) rs1275807638 0.00001
NM_000466.3(PEX1):c.3383T>A (p.Leu1128His) rs747206901 0.00001
NM_000466.3(PEX1):c.3439-13A>G rs756042510 0.00001
NM_000466.3(PEX1):c.3483G>C (p.Leu1161Phe) rs375607384 0.00001
NM_000466.3(PEX1):c.3598A>T (p.Ile1200Phe) rs886043722 0.00001
NM_000466.3(PEX1):c.35G>A (p.Gly12Glu) rs747408581 0.00001
NM_000466.3(PEX1):c.3632G>A (p.Ser1211Asn) rs1791172694 0.00001
NM_000466.3(PEX1):c.3636+4T>C rs764752742 0.00001
NM_000466.3(PEX1):c.3637-19A>G rs367814599 0.00001
NM_000466.3(PEX1):c.3678A>T (p.Arg1226Ser) rs1173172739 0.00001
NM_000466.3(PEX1):c.3692A>G (p.Gln1231Arg) rs766682184 0.00001
NM_000466.3(PEX1):c.3710C>T (p.Ala1237Val) rs1473858573 0.00001
NM_000466.3(PEX1):c.3772G>A (p.Glu1258Lys) rs749050363 0.00001
NM_000466.3(PEX1):c.3776G>C (p.Ser1259Thr) rs2484602216 0.00001
NM_000466.3(PEX1):c.3823C>T (p.Arg1275Ter) rs755549316 0.00001
NM_000466.3(PEX1):c.3839T>A (p.Val1280Glu) rs765142376 0.00001
NM_000466.3(PEX1):c.401T>C (p.Ile134Thr) rs2484705073 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.541A>C (p.Thr181Pro) rs775093154 0.00001
NM_000466.3(PEX1):c.545G>A (p.Arg182His) rs199591182 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.721T>C (p.Ser241Pro) rs753823218 0.00001
NM_000466.3(PEX1):c.724G>A (p.Val242Ile) rs764044654 0.00001
NM_000466.3(PEX1):c.803C>G (p.Thr268Ser) rs780119112 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.851A>G (p.Asp284Gly) rs745421141 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.907A>G (p.Thr303Ala) rs1335215764 0.00001
NM_000466.3(PEX1):c.953A>G (p.Asp318Gly) rs751341597 0.00001
NM_000466.3(PEX1):c.981C>G (p.Ser327Arg) rs370441413 0.00001
NM_002617.4(PEX10):c.248G>A (p.Arg83Gln) rs372894429 0.00001
NM_002617.4(PEX10):c.266C>T (p.Ser89Leu) rs769847524 0.00001
NM_002617.4(PEX10):c.29A>C (p.Glu10Ala) rs1367685379 0.00001
NM_002617.4(PEX10):c.338T>C (p.Leu113Pro) rs757778155 0.00001
NM_002617.4(PEX10):c.390C>G (p.Ser130Arg) rs1425257705 0.00001
NM_002617.4(PEX10):c.436C>T (p.Arg146Cys) rs1184194956 0.00001
NM_002617.4(PEX10):c.496G>A (p.Val166Ile) rs368864383 0.00001
NM_002617.4(PEX10):c.601-3C>G rs369643163 0.00001
NM_002617.4(PEX10):c.601-56C>T rs761449217 0.00001
NM_002617.4(PEX10):c.698G>A (p.Gly233Glu) rs372574195 0.00001
NM_002617.4(PEX10):c.718A>G (p.Arg240Gly) rs1424367364 0.00001
NM_002617.4(PEX10):c.776+9G>A rs528387404 0.00001
NM_002617.4(PEX10):c.931C>T (p.Arg311Trp) rs765965290 0.00001
NC_000007.13:g.(?_92116771)_(92151579_?)dup
NM_000287.4(PEX6):c.1226T>C (p.Leu409Ser) rs1355523119
NM_000287.4(PEX6):c.1310G>A (p.Gly437Asp) rs771063294
NM_000287.4(PEX6):c.1401_1403del (p.Leu468del) rs1222318292
NM_000287.4(PEX6):c.1513G>A (p.Gly505Arg) rs1769929969
NM_000287.4(PEX6):c.1565G>A (p.Arg522Gln) rs374396138
NM_000287.4(PEX6):c.1774G>C (p.Glu592Gln) rs375288192
NM_000287.4(PEX6):c.1833C>G (p.His611Gln) rs1335182312
NM_000287.4(PEX6):c.1935A>C (p.Ala645=) rs1769827119
NM_000287.4(PEX6):c.2094+4G>A rs943511270
NM_000287.4(PEX6):c.2399T>C (p.Ile800Thr) rs748244253
NM_000287.4(PEX6):c.2635C>G (p.Gln879Glu) rs1769709206
NM_000287.4(PEX6):c.2702T>C (p.Val901Ala) rs1209841271
NM_000287.4(PEX6):c.277CGGGCG[1] (p.93RA[1]) rs61753208
NM_000287.4(PEX6):c.2816C>G (p.Pro939Arg) rs1129187
NM_000287.4(PEX6):c.2866G>T (p.Ala956Ser) rs774145857
NM_000287.4(PEX6):c.346C>T (p.Leu116Phe) rs1770429515
NM_000287.4(PEX6):c.635T>A (p.Leu212His) rs779822002
NM_000287.4(PEX6):c.751C>G (p.Leu251Val) rs769332435
NM_000318.3(PEX2):c.571A>C (p.Met191Leu) rs747946744
NM_000318.3(PEX2):c.733G>C (p.Ala245Pro) rs112108739
NM_000318.3(PEX2):c.915T>A (p.Leu305=) rs1806889622
NM_000466.3(PEX1):c.103C>T (p.Leu35Phe) rs2484725523
NM_000466.3(PEX1):c.1060T>C (p.Ser354Pro) rs1422336690
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.1096G>C (p.Asp366His) rs2484702305
NM_000466.3(PEX1):c.1096G>T (p.Asp366Tyr) rs2484702305
NM_000466.3(PEX1):c.1104A>C (p.Lys368Asn) rs2116243334
NM_000466.3(PEX1):c.1109T>C (p.Ile370Thr) rs1562866173
NM_000466.3(PEX1):c.1111A>G (p.Arg371Gly) rs769973410
NM_000466.3(PEX1):c.1141G>T (p.Ala381Ser) rs540780825
NM_000466.3(PEX1):c.1142C>T (p.Ala381Val) rs73404416
NM_000466.3(PEX1):c.1156G>C (p.Val386Leu) rs2116242910
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.1184A>T (p.Asn395Ile) rs1008956990
NM_000466.3(PEX1):c.1190C>T (p.Ala397Val) rs2116242607
NM_000466.3(PEX1):c.1229G>A (p.Gly410Glu) rs2116242366
NM_000466.3(PEX1):c.1279C>A (p.His427Asn) rs2116221515
NM_000466.3(PEX1):c.1282G>A (p.Ala428Thr) rs2484692417
NM_000466.3(PEX1):c.129+8G>A rs1793393956
NM_000466.3(PEX1):c.1323T>G (p.Ile441Met) rs2116221247
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.1354A>C (p.Asn452His) rs2116220996
NM_000466.3(PEX1):c.1396T>C (p.Phe466Leu) rs2484687718
NM_000466.3(PEX1):c.1415A>G (p.Gln472Arg) rs2484687643
NM_000466.3(PEX1):c.1429A>G (p.Met477Val) rs1447457300
NM_000466.3(PEX1):c.1432C>T (p.Leu478Phe) rs2484687554
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.147_149del (p.Val50del) rs1793080067
NM_000466.3(PEX1):c.1489A>C (p.Lys497Gln) rs2484685969
NM_000466.3(PEX1):c.1490A>G (p.Lys497Arg) rs2484685961
NM_000466.3(PEX1):c.1494A>T (p.Glu498Asp) rs774980172
NM_000466.3(PEX1):c.1502_1513del (p.Leu501_Val504del) rs2484685868
NM_000466.3(PEX1):c.1526A>C (p.Lys509Thr) rs2484685819
NM_000466.3(PEX1):c.154A>G (p.Ser52Gly) rs1010885689
NM_000466.3(PEX1):c.1582A>G (p.Ile528Val) rs1792432441
NM_000466.3(PEX1):c.1587+6A>G rs2484685575
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.1605G>A (p.Met535Ile) rs2116195142
NM_000466.3(PEX1):c.1615G>A (p.Glu539Lys) rs752485627
NM_000466.3(PEX1):c.1620C>T (p.Asn540=) rs917874479
NM_000466.3(PEX1):c.1623T>G (p.Ser541Arg) rs2484682038
NM_000466.3(PEX1):c.1638T>A (p.Phe546Leu) rs1397315670
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.1647T>A (p.Pro549=) rs2484681990
NM_000466.3(PEX1):c.1657C>A (p.Leu553Met) rs1432487372
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.1679A>G (p.Asn560Ser) rs2116181845
NM_000466.3(PEX1):c.1702G>C (p.Glu568Gln) rs2484676530
NM_000466.3(PEX1):c.1742G>A (p.Arg581Gln) rs370483961
NM_000466.3(PEX1):c.1746G>C (p.Gln582His) rs750015247
NM_000466.3(PEX1):c.1754C>A (p.Ser585Tyr) rs1792225580
NM_000466.3(PEX1):c.1763C>T (p.Ala588Val) rs2116181053
NM_000466.3(PEX1):c.1793C>G (p.Thr598Arg)
NM_000466.3(PEX1):c.17G>T (p.Arg6Leu) rs1261327878
NM_000466.3(PEX1):c.1832C>T (p.Ala611Val) rs2116176413
NM_000466.3(PEX1):c.1867C>A (p.His623Asn) rs1792183513
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.1877G>C (p.Arg626Thr) rs1310822252
NM_000466.3(PEX1):c.1900+4T>C rs2116175794
NM_000466.3(PEX1):c.1901G>A (p.Gly634Glu) rs1792110916
NM_000466.3(PEX1):c.1933G>C (p.Glu645Gln) rs1792107504
NM_000466.3(PEX1):c.1946C>T (p.Ser649Leu) rs2484668832
NM_000466.3(PEX1):c.1962G>A (p.Met654Ile) rs1792105386
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.1978C>G (p.Leu660Val) rs2116165647
NM_000466.3(PEX1):c.199A>G (p.Ser67Gly) rs1793077630
NM_000466.3(PEX1):c.2012C>G (p.Pro671Arg) rs2484668447
NM_000466.3(PEX1):c.2014G>A (p.Ala672Thr) rs2484668440
NM_000466.3(PEX1):c.2015C>A (p.Ala672Asp) rs897278975
NM_000466.3(PEX1):c.2026C>T (p.His676Tyr) rs759330849
NM_000466.3(PEX1):c.2044G>A (p.Ala682Thr) rs2116165019
NM_000466.3(PEX1):c.2060G>T (p.Arg687Leu) rs201443294
NM_000466.3(PEX1):c.2069A>G (p.His690Arg) rs2484668169
NM_000466.3(PEX1):c.2072-12_2072-9del rs1292372226
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.2114T>G (p.Leu705Trp) rs863225084
NM_000466.3(PEX1):c.2126T>G (p.Ile709Ser) rs2484665022
NM_000466.3(PEX1):c.2140_2145dup (p.712_713SQ[3]) rs1554371691
NM_000466.3(PEX1):c.2145G>T (p.Gln715His) rs1292385792
NM_000466.3(PEX1):c.2153T>C (p.Leu718Pro)
NM_000466.3(PEX1):c.2178A>C (p.Gln726His)
NM_000466.3(PEX1):c.218T>C (p.Val73Ala) rs1793077054
NM_000466.3(PEX1):c.2215C>T (p.Pro739Ser) rs2484664747
NM_000466.3(PEX1):c.2227G>A (p.Glu743Lys) rs2484662077
NM_000466.3(PEX1):c.2240A>G (p.Glu747Gly) rs200207576
NM_000466.3(PEX1):c.2249G>A (p.Cys750Tyr) rs773562757
NM_000466.3(PEX1):c.2275T>C (p.Cys759Arg) rs1791954832
NM_000466.3(PEX1):c.2276G>A (p.Cys759Tyr) rs144878087
NM_000466.3(PEX1):c.2284A>C (p.Asn762His) rs2484661841
NM_000466.3(PEX1):c.230A>G (p.Asn77Ser) rs2484712754
NM_000466.3(PEX1):c.2312A>G (p.His771Arg) rs1791952164
NM_000466.3(PEX1):c.231C>A (p.Asn77Lys)
NM_000466.3(PEX1):c.233G>C (p.Arg78Thr) rs2116268284
NM_000466.3(PEX1):c.235C>G (p.Gln79Glu) rs1470609060
NM_000466.3(PEX1):c.2369G>A (p.Arg790Gln) rs777466377
NM_000466.3(PEX1):c.2377C>T (p.His793Tyr) rs1476014977
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.2416+4T>C rs1791945472
NM_000466.3(PEX1):c.2417-5A>G rs2484660608
NM_000466.3(PEX1):c.2443C>G (p.Gln815Glu) rs1306607552
NM_000466.3(PEX1):c.2449G>A (p.Ala817Thr) rs2116145984
NM_000466.3(PEX1):c.2468C>T (p.Pro823Leu) rs2116145764
NM_000466.3(PEX1):c.2480G>C (p.Arg827Pro) rs752937649
NM_000466.3(PEX1):c.2492T>C (p.Leu831Pro) rs981072523
NM_000466.3(PEX1):c.2506G>C (p.Asp836His) rs2484660152
NM_000466.3(PEX1):c.2536C>T (p.His846Tyr) rs2116145200
NM_000466.3(PEX1):c.2575C>A (p.Pro859Thr) rs1214888465
NM_000466.3(PEX1):c.2620A>G (p.Arg874Gly) rs1791835892
NM_000466.3(PEX1):c.2638T>A (p.Tyr880Asn) rs2484655369
NM_000466.3(PEX1):c.2667A>T (p.Leu889Phe) rs2116132673
NM_000466.3(PEX1):c.2687G>T (p.Arg896Leu) rs748798206
NM_000466.3(PEX1):c.2689G>C (p.Glu897Gln) rs2116132462
NM_000466.3(PEX1):c.2693G>A (p.Ser898Asn) rs1791831263
NM_000466.3(PEX1):c.2701A>C (p.Asn901His) rs2484655166
NM_000466.3(PEX1):c.2714T>A (p.Val905Asp) rs2116132179
NM_000466.3(PEX1):c.2726A>G (p.Glu909Gly) rs2484646477
NM_000466.3(PEX1):c.2761G>A (p.Ala921Thr) rs2116110846
NM_000466.3(PEX1):c.2826T>G (p.Phe942Leu) rs756877568
NM_000466.3(PEX1):c.2847_2849dup (p.Gly950_His951insGly)
NM_000466.3(PEX1):c.2848G>T (p.Gly950Cys) rs1791552137
NM_000466.3(PEX1):c.2854_2856del (p.Asp952del) rs762236071
NM_000466.3(PEX1):c.287C>G (p.Pro96Arg) rs1562868017
NM_000466.3(PEX1):c.2912T>A (p.Val971Glu) rs745667444
NM_000466.3(PEX1):c.2941G>A (p.Ala981Thr) rs566068815
NM_000466.3(PEX1):c.2951G>A (p.Ser984Asn) rs2484636943
NM_000466.3(PEX1):c.296A>T (p.His99Leu) rs1562868002
NM_000466.3(PEX1):c.2980C>T (p.Leu994Phe) rs760620313
NM_000466.3(PEX1):c.2989G>C (p.Gly997Arg) rs1259318173
NM_000466.3(PEX1):c.300_302del (p.Val101del) rs2484706978
NM_000466.3(PEX1):c.3014G>C (p.Cys1005Ser) rs1367395648
NM_000466.3(PEX1):c.301G>A (p.Val101Ile) rs2116253380
NM_000466.3(PEX1):c.3053A>G (p.Asn1018Ser) rs1337481084
NM_000466.3(PEX1):c.3062G>A (p.Ser1021Asn) rs1330798276
NM_000466.3(PEX1):c.3068C>T (p.Ser1023Phe) rs547203417
NM_000466.3(PEX1):c.3080C>T (p.Ala1027Val) rs1230128969
NM_000466.3(PEX1):c.3108A>G (p.Ala1036=) rs1030151030
NM_000466.3(PEX1):c.3115A>G (p.Thr1039Ala) rs2484629012
NM_000466.3(PEX1):c.3120C>G (p.Asp1040Glu) rs2116078096
NM_000466.3(PEX1):c.3122C>T (p.Ser1041Phe) rs1791432462
NM_000466.3(PEX1):c.3151C>T (p.Leu1051Phe) rs138992611
NM_000466.3(PEX1):c.3172G>A (p.Ala1058Thr) rs1791428584
NM_000466.3(PEX1):c.3173C>G (p.Ala1058Gly) rs2484628587
NM_000466.3(PEX1):c.3176T>C (p.Leu1059Ser) rs2484628549
NM_000466.3(PEX1):c.317T>G (p.Val106Gly) rs2484706929
NM_000466.3(PEX1):c.3181G>A (p.Gly1061Arg) rs1230486358
NM_000466.3(PEX1):c.3194C>T (p.Ser1065Leu) rs2484628463
NM_000466.3(PEX1):c.3196A>C (p.Ser1066Arg) rs1791427153
NM_000466.3(PEX1):c.319G>A (p.Glu107Lys) rs1272833716
NM_000466.3(PEX1):c.31G>T (p.Gly11Trp) rs2484725863
NM_000466.3(PEX1):c.323T>C (p.Val108Ala) rs1188265968
NM_000466.3(PEX1):c.3242T>C (p.Leu1081Pro) rs2116060032
NM_000466.3(PEX1):c.32G>T (p.Gly11Val) rs1793403052
NM_000466.3(PEX1):c.3340T>A (p.Ser1114Thr) rs1791304522
NM_000466.3(PEX1):c.337G>A (p.Ala113Thr) rs2484706877
NM_000466.3(PEX1):c.3395G>A (p.Ser1132Asn) rs2116057948
NM_000466.3(PEX1):c.340G>T (p.Asp114Tyr) rs2484706868
NM_000466.3(PEX1):c.3419_3424del (p.Asn1140_Gly1141del) rs758076338
NM_000466.3(PEX1):c.3425C>A (p.Thr1142Asn) rs756060498
NM_000466.3(PEX1):c.3438G>A (p.Leu1146=) rs1585214175
NM_000466.3(PEX1):c.3439-5T>G rs1483920015
NM_000466.3(PEX1):c.3447A>T (p.Gln1149His) rs781059210
NM_000466.3(PEX1):c.3463A>C (p.Ser1155Arg) rs1791190751
NM_000466.3(PEX1):c.3494C>T (p.Pro1165Leu) rs2484613397
NM_000466.3(PEX1):c.3502G>A (p.Asp1168Asn) rs762279727
NM_000466.3(PEX1):c.3585A>T (p.Gln1195His) rs371622709
NM_000466.3(PEX1):c.35G>C (p.Gly12Ala) rs747408581
NM_000466.3(PEX1):c.3602G>A (p.Ser1201Asn) rs1791175493
NM_000466.3(PEX1):c.3617G>T (p.Arg1206Ile) rs574785174
NM_000466.3(PEX1):c.3618A>G (p.Arg1206=) rs2484612519
NM_000466.3(PEX1):c.3634G>C (p.Gly1212Arg) rs2484612379
NM_000466.3(PEX1):c.3636+6G>C rs1030880599
NM_000466.3(PEX1):c.3665C>T (p.Pro1222Leu) rs371575516
NM_000466.3(PEX1):c.3697C>T (p.His1233Tyr) rs2484609758
NM_000466.3(PEX1):c.370G>A (p.Val124Ile) rs1792895303
NM_000466.3(PEX1):c.3722C>T (p.Thr1241Ile) rs1791136903
NM_000466.3(PEX1):c.3767+1_3767+2dup rs1383361108
NM_000466.3(PEX1):c.3781C>A (p.Gln1261Lys) rs2116022906
NM_000466.3(PEX1):c.3788C>A (p.Pro1263Gln) rs2484602170
NM_000466.3(PEX1):c.3788C>G (p.Pro1263Arg) rs2484602170
NM_000466.3(PEX1):c.379G>A (p.Glu127Lys) rs1253386014
NM_000466.3(PEX1):c.3803dup (p.Asn1268fs) rs1293931061
NM_000466.3(PEX1):c.3807_3808dup (p.Ser1270fs) rs758748151
NM_000466.3(PEX1):c.3808A>C (p.Ser1270Arg) rs2484602054
NM_000466.3(PEX1):c.3832C>A (p.Gln1278Lys) rs750722718
NM_000466.3(PEX1):c.385C>T (p.His129Tyr) rs1205686114
NM_000466.3(PEX1):c.38G>A (p.Gly13Asp) rs772314318
NM_000466.3(PEX1):c.400A>G (p.Ile134Val) rs1346290048
NM_000466.3(PEX1):c.431C>T (p.Pro144Leu) rs1792891356
NM_000466.3(PEX1):c.452C>T (p.Thr151Met) rs202057710
NM_000466.3(PEX1):c.455A>G (p.Tyr152Cys) rs1792889273
NM_000466.3(PEX1):c.472+4G>A rs2116248481
NM_000466.3(PEX1):c.472+5G>A rs1792887658
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.487G>C (p.Ala163Pro) rs750376002
NM_000466.3(PEX1):c.535C>T (p.Pro179Ser) rs760387811
NM_000466.3(PEX1):c.53C>T (p.Thr18Ile) rs2484725727
NM_000466.3(PEX1):c.545G>C (p.Arg182Pro) rs199591182
NM_000466.3(PEX1):c.548G>A (p.Arg183Gln) rs371413721
NM_000466.3(PEX1):c.561T>G (p.Asn187Lys) rs944593088
NM_000466.3(PEX1):c.601A>G (p.Ser201Gly) rs966915488
NM_000466.3(PEX1):c.617A>G (p.Gln206Arg) rs2484703913
NM_000466.3(PEX1):c.61T>C (p.Phe21Leu) rs2484725700
NM_000466.3(PEX1):c.631A>G (p.Lys211Glu) rs753770227
NM_000466.3(PEX1):c.642A>C (p.Gln214His) rs760441307
NM_000466.3(PEX1):c.647A>G (p.Lys216Arg) rs1792871862
NM_000466.3(PEX1):c.652C>G (p.Leu218Val) rs1226753246
NM_000466.3(PEX1):c.68A>G (p.Asn23Ser) rs1793399605
NM_000466.3(PEX1):c.704T>C (p.Ile235Thr) rs2484703622
NM_000466.3(PEX1):c.716C>T (p.Ser239Leu) rs1792868421
NM_000466.3(PEX1):c.742A>C (p.Met248Leu) rs1792867080
NM_000466.3(PEX1):c.74G>A (p.Arg25His) rs2484725627
NM_000466.3(PEX1):c.791C>T (p.Ser264Phe)
NM_000466.3(PEX1):c.814G>A (p.Ala272Thr) rs528610267
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.881C>G (p.Pro294Arg) rs1420491340
NM_000466.3(PEX1):c.896A>G (p.Asn299Ser) rs1792856155
NM_000466.3(PEX1):c.898G>T (p.Ala300Ser) rs751506204
NM_000466.3(PEX1):c.899C>T (p.Ala300Val)
NM_000466.3(PEX1):c.920A>G (p.His307Arg) rs563671482
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.968A>T (p.Asp323Val) rs1792851805
NM_000466.3(PEX1):c.977C>T (p.Pro326Leu) rs1341957716
NM_000466.3(PEX1):c.97C>T (p.Arg33Trp) rs2484725548
NM_002617.4(PEX10):c.341A>G (p.Glu114Gly) rs554490737
NM_002617.4(PEX10):c.601-42C>A rs1164836731
NM_002617.4(PEX10):c.604C>A (p.Arg202Ser) rs149615608
NM_002617.4(PEX10):c.604C>T (p.Arg202Cys) rs149615608
NM_002617.4(PEX10):c.712G>A (p.Gly238Ser) rs61736380
NM_002617.4(PEX10):c.757C>T (p.Arg253Cys) rs756537855
NM_002617.4(PEX10):c.81C>G (p.Ser27Arg) rs1257672002
NM_002617.4(PEX10):c.913-9T>C rs1642980853
NM_002617.4(PEX10):c.946C>T (p.Pro316Ser) rs1642979023

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