ClinVar Miner

List of variants in gene PEX6 studied for Zellweger spectrum disorders

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1587
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HGVS dbSNP gnomAD frequency
NM_000287.4(PEX6):c.2667-48G>A rs2274517 0.57547
NM_000287.4(PEX6):c.1961+20G>A rs2274514 0.56870
NM_000287.4(PEX6):c.1885-24G>A rs3818554 0.56866
NM_000287.4(PEX6):c.2814G>A (p.Glu938=) rs1129186 0.56758
NM_000287.3(PEX6):c.-55C>T rs9462859 0.40581
NM_000287.4(PEX6):c.399G>T (p.Val133=) rs9462858 0.40569
NM_000287.4(PEX6):c.2816C>A (p.Pro939Gln) rs1129187 0.40479
NM_000287.4(PEX6):c.883-3T>C rs9986447 0.36088
NM_000287.4(PEX6):c.2426C>T (p.Ala809Val) rs35830695 0.07353
NM_000287.4(PEX6):c.2364G>A (p.Val788=) rs2274515 0.06152
NM_000287.4(PEX6):c.*319C>T rs736158 0.06143
NM_000287.4(PEX6):c.*212C>T rs1051218 0.02308
NM_000287.4(PEX6):c.207C>T (p.Pro69=) rs11539736 0.02141
NM_000287.4(PEX6):c.2644G>A (p.Val882Ile) rs2274516 0.02086
NM_000287.4(PEX6):c.1028G>A (p.Arg343Gln) rs111282915 0.01262
NM_000287.4(PEX6):c.1646C>T (p.Ala549Val) rs115960224 0.00687
NM_000287.4(PEX6):c.2936C>T (p.Ala979Val) rs115180949 0.00686
NM_000287.4(PEX6):c.210G>A (p.Gly70=) rs398123304 0.00678
NM_000287.4(PEX6):c.2770G>T (p.Ala924Ser) rs34551839 0.00619
NM_000287.4(PEX6):c.813G>T (p.Ala271=) rs35503676 0.00583
NM_000287.4(PEX6):c.330C>G (p.Thr110=) rs140486558 0.00486
NM_000287.4(PEX6):c.1479+11C>T rs114137311 0.00471
NM_000287.4(PEX6):c.1071A>G (p.Leu357=) rs116318004 0.00363
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426 0.00294
NM_000287.4(PEX6):c.882+15_882+16del rs555409430 0.00189
NM_000287.4(PEX6):c.2436G>A (p.Arg812=) rs61732156 0.00178
NM_000287.4(PEX6):c.685A>G (p.Arg229Gly) rs146571927 0.00176
NM_000287.4(PEX6):c.1171G>A (p.Glu391Lys) rs150046979 0.00175
NM_000287.4(PEX6):c.1480-5C>T rs376473597 0.00126
NM_000287.4(PEX6):c.1718C>T (p.Thr573Ile) rs140769712 0.00122
NM_000287.4(PEX6):c.1677C>A (p.Asp559Glu) rs61732159 0.00093
NM_000287.4(PEX6):c.1491C>T (p.Ser497=) rs79238506 0.00079
NM_000287.4(PEX6):c.853C>G (p.Pro285Ala) rs61753220 0.00067
NM_000287.4(PEX6):c.1234-11A>G rs201879957 0.00041
NM_000287.4(PEX6):c.1014C>T (p.Asp338=) rs140806942 0.00039
NM_000287.4(PEX6):c.1335C>G (p.Leu445=) rs142958800 0.00039
NM_000287.4(PEX6):c.1757C>T (p.Ala586Val) rs146416679 0.00039
NM_000287.4(PEX6):c.*343G>C rs117055658 0.00037
NM_000287.4(PEX6):c.503C>T (p.Pro168Leu) rs200026148 0.00037
NM_000287.4(PEX6):c.1670A>G (p.Asn557Ser) rs138621982 0.00030
NM_000287.4(PEX6):c.25C>T (p.Leu9=) rs183449855 0.00029
NM_000287.4(PEX6):c.2700C>T (p.Asn900=) rs533766104 0.00029
NM_000287.4(PEX6):c.1884+3G>A rs377041406 0.00026
NM_000287.4(PEX6):c.306G>T (p.Ala102=) rs727504083 0.00026
NM_000287.3(PEX6):c.-79C>T rs186587060 0.00024
NM_000287.4(PEX6):c.488G>C (p.Arg163Pro) rs778791031 0.00024
NM_000287.4(PEX6):c.372G>C (p.Leu124=) rs752732049 0.00021
NM_000287.4(PEX6):c.1303C>A (p.Pro435Thr) rs115186444 0.00020
NM_000287.4(PEX6):c.2531T>C (p.Val844Ala) rs187435179 0.00019
NM_000287.4(PEX6):c.1961+19C>T rs527464912 0.00017
NM_000287.4(PEX6):c.1081A>G (p.Thr361Ala) rs146025917 0.00016
NM_000287.4(PEX6):c.2183C>T (p.Pro728Leu) rs142899308 0.00016
NM_000287.4(PEX6):c.2806+15G>A rs370445298 0.00016
NM_000287.4(PEX6):c.617G>A (p.Gly206Glu) rs139093654 0.00016
NM_000287.4(PEX6):c.543G>A (p.Val181=) rs368560418 0.00015
NM_000287.4(PEX6):c.1131-18T>C rs537952041 0.00014
NM_000287.4(PEX6):c.2867C>T (p.Ala956Val) rs200115671 0.00014
NM_000287.4(PEX6):c.2534T>C (p.Ile845Thr) rs61753226 0.00013
NM_000287.4(PEX6):c.1606C>T (p.Arg536Trp) rs368752843 0.00012
NM_000287.4(PEX6):c.2225T>C (p.Leu742Pro) rs267608235 0.00012
NM_000287.4(PEX6):c.1082C>T (p.Thr361Ile) rs145335409 0.00010
NM_000287.4(PEX6):c.2783G>A (p.Arg928His) rs201265954 0.00010
NM_000287.4(PEX6):c.643C>A (p.Leu215Ile) rs865933425 0.00010
NM_000287.4(PEX6):c.740C>G (p.Pro247Arg) rs199697021 0.00010
NM_000287.4(PEX6):c.843T>C (p.Leu281=) rs758552465 0.00010
NM_000287.4(PEX6):c.970G>A (p.Glu324Lys) rs201678533 0.00010
NM_000287.4(PEX6):c.1607G>A (p.Arg536Gln) rs138431842 0.00009
NM_000287.4(PEX6):c.1637G>A (p.Arg546His) rs201061728 0.00009
NM_000287.4(PEX6):c.1773C>T (p.Leu591=) rs56328719 0.00009
NM_000287.4(PEX6):c.1480-4C>G rs767652461 0.00008
NM_000287.4(PEX6):c.1821C>T (p.Ala607=) rs201730259 0.00008
NM_000287.4(PEX6):c.390C>T (p.Thr130=) rs753963225 0.00008
NM_000287.4(PEX6):c.1680C>T (p.Pro560=) rs372998833 0.00007
NM_000287.4(PEX6):c.2104G>A (p.Val702Met) rs377421228 0.00007
NM_000287.4(PEX6):c.219G>A (p.Gln73=) rs191944205 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_000287.4(PEX6):c.1962-15T>C rs756925757 0.00006
NM_000287.4(PEX6):c.2244C>T (p.Thr748=) rs372593973 0.00006
NM_000287.4(PEX6):c.1387A>G (p.Thr463Ala) rs182308788 0.00005
NM_000287.4(PEX6):c.1613G>A (p.Arg538His) rs559048081 0.00005
NM_000287.4(PEX6):c.1877G>A (p.Arg626Gln) rs79351868 0.00005
NM_000287.4(PEX6):c.2229T>C (p.His743=) rs145849057 0.00005
NM_000287.4(PEX6):c.2459G>A (p.Gly820Glu) rs558030547 0.00005
NM_000287.4(PEX6):c.2662C>T (p.Arg888Cys) rs148251960 0.00005
NM_000287.4(PEX6):c.2730G>A (p.Thr910=) rs774721609 0.00005
NM_000287.4(PEX6):c.2869C>T (p.Arg957Trp) rs762858933 0.00005
NM_000287.4(PEX6):c.2891dup (p.Gln965fs) rs753862792 0.00005
NM_000287.3(PEX6):c.-39G>A rs76974379 0.00004
NM_000287.4(PEX6):c.1150A>C (p.Lys384Gln) rs769388552 0.00004
NM_000287.4(PEX6):c.1206C>T (p.Ala402=) rs756358409 0.00004
NM_000287.4(PEX6):c.1354C>T (p.Arg452Cys) rs762734034 0.00004
NM_000287.4(PEX6):c.187G>A (p.Gly63Ser) rs958375823 0.00004
NM_000287.4(PEX6):c.2095-12T>G rs760820489 0.00004
NM_000287.4(PEX6):c.2095-19C>T rs201875496 0.00004
NM_000287.4(PEX6):c.2124T>C (p.Gly708=) rs199661664 0.00004
NM_000287.4(PEX6):c.2357G>A (p.Arg786Gln) rs758572546 0.00004
NM_000287.4(PEX6):c.2604G>A (p.Val868=) rs761123181 0.00004
NM_000287.4(PEX6):c.2642G>A (p.Arg881His) rs751377690 0.00004
NM_000287.4(PEX6):c.2663G>A (p.Arg888His) rs267608247 0.00004
NM_000287.4(PEX6):c.2666+16G>C rs753900168 0.00004
NM_000287.4(PEX6):c.2736G>A (p.Ala912=) rs202049230 0.00004
NM_000287.4(PEX6):c.2906G>A (p.Arg969Gln) rs374426032 0.00004
NM_000287.4(PEX6):c.2924G>T (p.Arg975Leu) rs757254854 0.00004
NM_000287.4(PEX6):c.411G>A (p.Arg137=) rs769196737 0.00004
NM_000287.4(PEX6):c.657G>A (p.Gln219=) rs375588028 0.00004
NM_000287.4(PEX6):c.680A>G (p.Gln227Arg) rs757479364 0.00004
NM_000287.4(PEX6):c.690G>A (p.Glu230=) rs368341252 0.00004
NM_000287.4(PEX6):c.807A>G (p.Gly269=) rs774117516 0.00004
NM_000287.4(PEX6):c.870G>C (p.Glu290Asp) rs150358700 0.00004
NM_000287.4(PEX6):c.903C>T (p.Ile301=) rs772083436 0.00004
NM_000287.4(PEX6):c.939T>C (p.Pro313=) rs151234121 0.00004
NM_000287.3(PEX6):c.-62C>A rs886061413 0.00003
NM_000287.4(PEX6):c.*168C>T rs886061410 0.00003
NM_000287.4(PEX6):c.1145T>G (p.Phe382Cys) rs762401493 0.00003
NM_000287.4(PEX6):c.1159A>G (p.Lys387Glu) rs1286993221 0.00003
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.1234-10C>T rs370661410 0.00003
NM_000287.4(PEX6):c.1405C>T (p.Arg469Trp) rs757334412 0.00003
NM_000287.4(PEX6):c.1455T>C (p.Ser485=) rs749798782 0.00003
NM_000287.4(PEX6):c.1480-14G>A rs558979502 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.1857C>T (p.Asn619=) rs140285166 0.00003
NM_000287.4(PEX6):c.185C>T (p.Ala62Val) rs991131935 0.00003
NM_000287.4(PEX6):c.1876C>T (p.Arg626Trp) rs374278186 0.00003
NM_000287.4(PEX6):c.1941C>A (p.Cys647Ter) rs781475201 0.00003
NM_000287.4(PEX6):c.21G>T (p.Arg7=) rs908910430 0.00003
NM_000287.4(PEX6):c.2493C>T (p.Ala831=) rs775778545 0.00003
NM_000287.4(PEX6):c.2735C>T (p.Ala912Val) rs62641232 0.00003
NM_000287.4(PEX6):c.2788G>T (p.Val930Phe) rs756296074 0.00003
NM_000287.4(PEX6):c.2806+14C>T rs544074442 0.00003
NM_000287.4(PEX6):c.2866G>A (p.Ala956Thr) rs774145857 0.00003
NM_000287.4(PEX6):c.295C>T (p.Arg99Trp) rs772383329 0.00003
NM_000287.4(PEX6):c.412G>A (p.Val138Met) rs763313055 0.00003
NM_000287.4(PEX6):c.465G>C (p.Leu155=) rs1187015124 0.00003
NM_000287.4(PEX6):c.483C>T (p.Arg161=) rs772034979 0.00003
NM_000287.4(PEX6):c.781C>T (p.Pro261Ser) rs758866060 0.00003
NM_000287.4(PEX6):c.782C>T (p.Pro261Leu) rs753014991 0.00003
NM_000287.4(PEX6):c.821C>T (p.Pro274Leu) rs61753219 0.00003
NM_000287.4(PEX6):c.904G>A (p.Ala302Thr) rs368503571 0.00003
NM_000287.4(PEX6):c.1047-4G>T rs748779475 0.00002
NM_000287.4(PEX6):c.106C>T (p.Leu36=) rs758416830 0.00002
NM_000287.4(PEX6):c.1104G>A (p.Leu368=) rs551645410 0.00002
NM_000287.4(PEX6):c.1130+18G>C rs201799034 0.00002
NM_000287.4(PEX6):c.1137G>T (p.Arg379=) rs766574538 0.00002
NM_000287.4(PEX6):c.122G>A (p.Arg41Lys) rs372033738 0.00002
NM_000287.4(PEX6):c.1361A>G (p.Gln454Arg) rs779171611 0.00002
NM_000287.4(PEX6):c.1370G>T (p.Gly457Val) rs752494573 0.00002
NM_000287.4(PEX6):c.1406G>A (p.Arg469Gln) rs773105735 0.00002
NM_000287.4(PEX6):c.1437A>G (p.Val479=) rs769120023 0.00002
NM_000287.4(PEX6):c.1555C>T (p.Arg519Cys) rs924649541 0.00002
NM_000287.4(PEX6):c.1556G>A (p.Arg519His) rs368356719 0.00002
NM_000287.4(PEX6):c.1587A>C (p.Thr529=) rs372775539 0.00002
NM_000287.4(PEX6):c.1612C>T (p.Arg538Cys) rs374253469 0.00002
NM_000287.4(PEX6):c.1689-19C>T rs369595295 0.00002
NM_000287.4(PEX6):c.1746T>C (p.Asp582=) rs756462650 0.00002
NM_000287.4(PEX6):c.1810A>G (p.Ile604Val) rs370855809 0.00002
NM_000287.4(PEX6):c.192C>G (p.Thr64=) rs1310661091 0.00002
NM_000287.4(PEX6):c.1961+11G>A rs778693003 0.00002
NM_000287.4(PEX6):c.1962-1G>A rs267608229 0.00002
NM_000287.4(PEX6):c.1963T>C (p.Leu655=) rs751189574 0.00002
NM_000287.4(PEX6):c.1992G>C (p.Glu664Asp) rs267608230 0.00002
NM_000287.4(PEX6):c.2079C>T (p.Ala693=) rs774509670 0.00002
NM_000287.4(PEX6):c.2080G>A (p.Val694Ile) rs562698757 0.00002
NM_000287.4(PEX6):c.2089C>T (p.Pro697Ser) rs543110086 0.00002
NM_000287.4(PEX6):c.2139G>A (p.Val713=) rs1355851692 0.00002
NM_000287.4(PEX6):c.2210G>A (p.Arg737His) rs767654358 0.00002
NM_000287.4(PEX6):c.2254C>G (p.Leu752Val) rs374975985 0.00002
NM_000287.4(PEX6):c.2257C>T (p.Leu753=) rs771551469 0.00002
NM_000287.4(PEX6):c.2280G>A (p.Glu760=) rs538125198 0.00002
NM_000287.4(PEX6):c.2310G>A (p.Gly770=) rs775473162 0.00002
NM_000287.4(PEX6):c.2362+13G>A rs754139118 0.00002
NM_000287.4(PEX6):c.2362+18G>A rs926733722 0.00002
NM_000287.4(PEX6):c.2363-12C>G rs762548205 0.00002
NM_000287.4(PEX6):c.2397T>C (p.Ile799=) rs773184108 0.00002
NM_000287.4(PEX6):c.2440C>T (p.Arg814Ter) rs267608241 0.00002
NM_000287.4(PEX6):c.2579G>A (p.Arg860Gln) rs61753231 0.00002
NM_000287.4(PEX6):c.2612G>A (p.Gly871Glu) rs1460417469 0.00002
NM_000287.4(PEX6):c.2643C>T (p.Arg881=) rs150853105 0.00002
NM_000287.4(PEX6):c.2666+9T>C rs759681405 0.00002
NM_000287.4(PEX6):c.2672A>G (p.Lys891Arg) rs886044685 0.00002
NM_000287.4(PEX6):c.2701G>A (p.Val901Met) rs766523042 0.00002
NM_000287.4(PEX6):c.2734G>A (p.Ala912Thr) rs374549180 0.00002
NM_000287.4(PEX6):c.2884G>A (p.Val962Ile) rs771029096 0.00002
NM_000287.4(PEX6):c.2914C>T (p.Arg972Cys) rs761395988 0.00002
NM_000287.4(PEX6):c.367C>T (p.Leu123=) rs758218388 0.00002
NM_000287.4(PEX6):c.558G>A (p.Ala186=) rs1443640798 0.00002
NM_000287.4(PEX6):c.621G>A (p.Val207=) rs778798903 0.00002
NM_000287.4(PEX6):c.635T>A (p.Leu212His) rs779822002 0.00002
NM_000287.4(PEX6):c.724G>A (p.Val242Met) rs368915893 0.00002
NM_000287.4(PEX6):c.732C>T (p.Val244=) rs768532180 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.882+8A>G rs368663953 0.00002
NM_000287.3(PEX6):c.-71C>G rs886061414 0.00001
NM_000287.4(PEX6):c.1027C>T (p.Arg343Trp) rs977542433 0.00001
NM_000287.4(PEX6):c.1032C>T (p.His344=) rs1770222575 0.00001
NM_000287.4(PEX6):c.1033T>A (p.Phe345Ile) rs1770222482 0.00001
NM_000287.4(PEX6):c.1084_1085del (p.Ile362fs) rs1408438094 0.00001
NM_000287.4(PEX6):c.1085T>C (p.Ile362Thr) rs571650965 0.00001
NM_000287.4(PEX6):c.1116A>G (p.Pro372=) rs532009370 0.00001
NM_000287.4(PEX6):c.1125G>T (p.Leu375=) rs1315935379 0.00001
NM_000287.4(PEX6):c.112C>T (p.Leu38=) rs1295374375 0.00001
NM_000287.4(PEX6):c.1130+2T>C rs1416001981 0.00001
NM_000287.4(PEX6):c.1131-7C>T rs752538584 0.00001
NM_000287.4(PEX6):c.1145T>C (p.Phe382Ser) rs762401493 0.00001
NM_000287.4(PEX6):c.117C>T (p.Ala39=) rs1425435587 0.00001
NM_000287.4(PEX6):c.1225T>C (p.Leu409=) rs1243719850 0.00001
NM_000287.4(PEX6):c.1231A>G (p.Met411Val) rs752177240 0.00001
NM_000287.4(PEX6):c.1233+1G>A rs763459576 0.00001
NM_000287.4(PEX6):c.1233+3G>A rs955591362 0.00001
NM_000287.4(PEX6):c.1234-1G>T rs1554127533 0.00001
NM_000287.4(PEX6):c.1234-20C>T rs751884285 0.00001
NM_000287.4(PEX6):c.1236G>A (p.Val412=) rs1196012985 0.00001
NM_000287.4(PEX6):c.1251C>T (p.Ser417=) rs995542635 0.00001
NM_000287.4(PEX6):c.1254T>C (p.Pro418=) rs760255973 0.00001
NM_000287.4(PEX6):c.1260A>G (p.Pro420=) rs139409107 0.00001
NM_000287.4(PEX6):c.1267C>G (p.Pro423Ala) rs774044599 0.00001
NM_000287.4(PEX6):c.1281C>T (p.Ser427=) rs1318560741 0.00001
NM_000287.4(PEX6):c.1287del (p.Trp430fs) rs1258472160 0.00001
NM_000287.4(PEX6):c.1290G>T (p.Trp430Cys) rs1457151665 0.00001
NM_000287.4(PEX6):c.1294A>C (p.Ser432Arg) rs775373588 0.00001
NM_000287.4(PEX6):c.1313T>C (p.Leu438Pro) rs778025463 0.00001
NM_000287.4(PEX6):c.1313dup (p.Glu439fs) rs770055192 0.00001
NM_000287.4(PEX6):c.1326G>A (p.Val442=) rs753300241 0.00001
NM_000287.4(PEX6):c.1359C>T (p.Leu453=) rs1769988633 0.00001
NM_000287.4(PEX6):c.1362G>A (p.Gln454=) rs1360001006 0.00001
NM_000287.4(PEX6):c.1365A>G (p.Pro455=) rs759402659 0.00001
NM_000287.4(PEX6):c.1367+10G>A rs776610051 0.00001
NM_000287.4(PEX6):c.1368-19G>A rs1184313908 0.00001
NM_000287.4(PEX6):c.1374C>T (p.Ala458=) rs1485254916 0.00001
NM_000287.4(PEX6):c.1380G>A (p.Leu460=) rs764976498 0.00001
NM_000287.4(PEX6):c.1392C>T (p.Ser464=) rs1345870957 0.00001
NM_000287.4(PEX6):c.140C>T (p.Pro47Leu) rs1299683224 0.00001
NM_000287.4(PEX6):c.1410C>T (p.Gly470=) rs1206140976 0.00001
NM_000287.4(PEX6):c.1417G>A (p.Gly473Ser) rs774874010 0.00001
NM_000287.4(PEX6):c.141G>C (p.Pro47=) rs1464923917 0.00001
NM_000287.4(PEX6):c.1453A>G (p.Ser485Gly) rs1211744219 0.00001
NM_000287.4(PEX6):c.1480-18T>C rs1175044137 0.00001
NM_000287.4(PEX6):c.1480-9C>G rs1421047167 0.00001
NM_000287.4(PEX6):c.1484C>G (p.Pro495Arg) rs762174122 0.00001
NM_000287.4(PEX6):c.1485C>T (p.Pro495=) rs1202034566 0.00001
NM_000287.4(PEX6):c.150G>C (p.Pro50=) rs1475357223 0.00001
NM_000287.4(PEX6):c.1511G>A (p.Ser504Asn) rs770340288 0.00001
NM_000287.4(PEX6):c.1512T>C (p.Ser504=) rs1013102900 0.00001
NM_000287.4(PEX6):c.1531C>T (p.Leu511=) rs147567606 0.00001
NM_000287.4(PEX6):c.153G>C (p.Ala51=) rs1179672531 0.00001
NM_000287.4(PEX6):c.1542C>T (p.Ile514=) rs757884797 0.00001
NM_000287.4(PEX6):c.1545C>T (p.Phe515=) rs1385021965 0.00001
NM_000287.4(PEX6):c.1558C>T (p.Arg520Cys) rs530370123 0.00001
NM_000287.4(PEX6):c.1566G>A (p.Arg522=) rs950336722 0.00001
NM_000287.4(PEX6):c.157C>G (p.Leu53Val) rs1254816567 0.00001
NM_000287.4(PEX6):c.1591G>A (p.Val531Met) rs1769924968 0.00001
NM_000287.4(PEX6):c.1605C>T (p.Gly535=) rs1384204316 0.00001
NM_000287.4(PEX6):c.1639G>T (p.Val547Leu) rs757202336 0.00001
NM_000287.4(PEX6):c.1654C>T (p.Arg552Cys) rs765678624 0.00001
NM_000287.4(PEX6):c.1688+3A>G rs111397663 0.00001
NM_000287.4(PEX6):c.1688G>A (p.Ser563Asn) rs768025730 0.00001
NM_000287.4(PEX6):c.1689-12C>G rs901956712 0.00001
NM_000287.4(PEX6):c.169C>T (p.Leu57=) rs1481867777 0.00001
NM_000287.4(PEX6):c.1737G>A (p.Leu579=) rs766766609 0.00001
NM_000287.4(PEX6):c.1747G>A (p.Val583Met) rs750996699 0.00001
NM_000287.4(PEX6):c.1797G>A (p.Gly599=) rs746770634 0.00001
NM_000287.4(PEX6):c.1798C>T (p.Gln600Ter) rs1769875600 0.00001
NM_000287.4(PEX6):c.1801C>T (p.Arg601Trp) rs61753225 0.00001
NM_000287.4(PEX6):c.1815G>A (p.Leu605=) rs746010714 0.00001
NM_000287.4(PEX6):c.1817G>A (p.Arg606Gln) rs780239941 0.00001
NM_000287.4(PEX6):c.1834C>T (p.Leu612Phe) rs750758458 0.00001
NM_000287.4(PEX6):c.1841del (p.Leu614fs) rs863225083 0.00001
NM_000287.4(PEX6):c.1858T>C (p.Leu620=) rs1365537744 0.00001
NM_000287.4(PEX6):c.1884A>G (p.Ala628=) rs779124738 0.00001
NM_000287.4(PEX6):c.1885-17T>C rs1205830934 0.00001
NM_000287.4(PEX6):c.1885-8T>G rs757612297 0.00001
NM_000287.4(PEX6):c.1885G>C (p.Gly629Arg) rs753408034 0.00001
NM_000287.4(PEX6):c.188G>A (p.Gly63Asp) rs1770439751 0.00001
NM_000287.4(PEX6):c.1902T>C (p.Asp634=) rs761653474 0.00001
NM_000287.4(PEX6):c.1931G>A (p.Arg644Gln) rs746117128 0.00001
NM_000287.4(PEX6):c.1943C>T (p.Thr648Ile) rs1439667922 0.00001
NM_000287.4(PEX6):c.1950C>T (p.Ile650=) rs747394761 0.00001
NM_000287.4(PEX6):c.1958C>T (p.Ser653Leu) rs267608228 0.00001
NM_000287.4(PEX6):c.1961+10C>T rs779467530 0.00001
NM_000287.4(PEX6):c.1961+4A>C rs748621080 0.00001
NM_000287.4(PEX6):c.1962-16G>A rs200119040 0.00001
NM_000287.4(PEX6):c.1962-8C>T rs959360213 0.00001
NM_000287.4(PEX6):c.2010C>T (p.Ala670=) rs759328524 0.00001
NM_000287.4(PEX6):c.2011G>A (p.Gly671Ser) rs776805570 0.00001
NM_000287.4(PEX6):c.202G>A (p.Gly68Ser) rs752644254 0.00001
NM_000287.4(PEX6):c.2061G>A (p.Gln687=) rs1769816755 0.00001
NM_000287.4(PEX6):c.2078C>A (p.Ala693Asp) rs748535121 0.00001
NM_000287.4(PEX6):c.2094+6G>A rs1009420665 0.00001
NM_000287.4(PEX6):c.2095-18G>A rs370867292 0.00001
NM_000287.4(PEX6):c.2108C>T (p.Ser703Phe) rs1390565278 0.00001
NM_000287.4(PEX6):c.2109C>G (p.Ser703=) rs1769810523 0.00001
NM_000287.4(PEX6):c.2142G>T (p.Lys714Asn) rs371619603 0.00001
NM_000287.4(PEX6):c.2148G>A (p.Glu716=) rs766104579 0.00001
NM_000287.4(PEX6):c.2157G>C (p.Glu719Asp) rs1385321266 0.00001
NM_000287.4(PEX6):c.2172C>T (p.Pro724=) rs1463523319 0.00001
NM_000287.4(PEX6):c.2177A>C (p.Glu726Ala) rs1250862310 0.00001
NM_000287.4(PEX6):c.2182C>T (p.Pro728Ser) rs577794661 0.00001
NM_000287.4(PEX6):c.2204T>C (p.Leu735Pro) rs920798728 0.00001
NM_000287.4(PEX6):c.2205G>C (p.Leu735=) rs1472222445 0.00001
NM_000287.4(PEX6):c.2205del (p.Arg736fs) rs1197432552 0.00001
NM_000287.4(PEX6):c.2209C>T (p.Arg737Cys) rs148562506 0.00001
NM_000287.4(PEX6):c.2221C>T (p.Leu741=) rs558449356 0.00001
NM_000287.4(PEX6):c.2228A>G (p.His743Arg) rs1313804105 0.00001
NM_000287.4(PEX6):c.2243C>T (p.Thr748Ile) rs1769802405 0.00001
NM_000287.4(PEX6):c.2245G>A (p.Gly749Ser) rs1244339215 0.00001
NM_000287.4(PEX6):c.2247C>A (p.Gly749=) rs770291974 0.00001
NM_000287.4(PEX6):c.2300+15T>C rs1262534519 0.00001
NM_000287.4(PEX6):c.2300+16G>A rs1371507879 0.00001
NM_000287.4(PEX6):c.2331T>C (p.Tyr777=) rs745866848 0.00001
NM_000287.4(PEX6):c.2347G>A (p.Glu783Lys) rs757161798 0.00001
NM_000287.4(PEX6):c.2353G>A (p.Val785Met) rs747065131 0.00001
NM_000287.4(PEX6):c.2356C>T (p.Arg786Trp) rs267608239 0.00001
NM_000287.4(PEX6):c.2359G>A (p.Glu787Lys) rs202019439 0.00001
NM_000287.4(PEX6):c.2362+15A>G rs761201792 0.00001
NM_000287.4(PEX6):c.2362+1G>A rs1443107232 0.00001
NM_000287.4(PEX6):c.2362G>A (p.Val788Met) rs267608240 0.00001
NM_000287.4(PEX6):c.2382T>C (p.Ala794=) rs776319615 0.00001
NM_000287.4(PEX6):c.2435G>A (p.Arg812Gln) rs61753229 0.00001
NM_000287.4(PEX6):c.2439G>A (p.Gly813=) rs139281058 0.00001
NM_000287.4(PEX6):c.2441G>A (p.Arg814Gln) rs757780839 0.00001
NM_000287.4(PEX6):c.249C>T (p.Leu83=) rs1438441659 0.00001
NM_000287.4(PEX6):c.2512A>G (p.Ser838Gly) rs759682469 0.00001
NM_000287.4(PEX6):c.2547C>T (p.Asn849=) rs1171568759 0.00001
NM_000287.4(PEX6):c.2585G>T (p.Gly862Val) rs764227040 0.00001
NM_000287.4(PEX6):c.2586C>A (p.Gly862=) rs763098526 0.00001
NM_000287.4(PEX6):c.2615C>T (p.Ala872Val) rs183208634 0.00001
NM_000287.4(PEX6):c.2626C>T (p.Arg876Trp) rs267608246 0.00001
NM_000287.4(PEX6):c.2641C>T (p.Arg881Cys) rs756846188 0.00001
NM_000287.4(PEX6):c.2666+10G>T rs1391636338 0.00001
NM_000287.4(PEX6):c.2667-4A>G rs1561819184 0.00001
NM_000287.4(PEX6):c.2681C>T (p.Pro894Leu) rs1040199114 0.00001
NM_000287.4(PEX6):c.2693T>C (p.Leu898Pro) rs1769689393 0.00001
NM_000287.4(PEX6):c.2704C>T (p.Leu902=) rs368544721 0.00001
NM_000287.4(PEX6):c.2729C>T (p.Thr910Met) rs762089817 0.00001
NM_000287.4(PEX6):c.273G>A (p.Trp91Ter) rs1010184002 0.00001
NM_000287.4(PEX6):c.2769A>G (p.Thr923=) rs1436900309 0.00001
NM_000287.4(PEX6):c.2802G>A (p.Glu934=) rs747654294 0.00001
NM_000287.4(PEX6):c.2805A>G (p.Glu935=) rs918460295 0.00001
NM_000287.4(PEX6):c.2806+1G>A rs751900826 0.00001
NM_000287.4(PEX6):c.2807-20C>T rs781291676 0.00001
NM_000287.4(PEX6):c.2830C>T (p.Leu944=) rs2063704023 0.00001
NM_000287.4(PEX6):c.2854C>T (p.Leu952=) rs767430981 0.00001
NM_000287.4(PEX6):c.2870G>A (p.Arg957Gln) rs370201505 0.00001
NM_000287.4(PEX6):c.2877A>G (p.Gln959=) rs562040179 0.00001
NM_000287.4(PEX6):c.2878C>T (p.Pro960Ser) rs1769644652 0.00001
NM_000287.4(PEX6):c.2883A>T (p.Ser961=) rs369656844 0.00001
NM_000287.4(PEX6):c.2885T>C (p.Val962Ala) rs1361796630 0.00001
NM_000287.4(PEX6):c.2889T>C (p.Ser963=) rs958283171 0.00001
NM_000287.4(PEX6):c.2915G>A (p.Arg972His) rs751058292 0.00001
NM_000287.4(PEX6):c.2923C>T (p.Arg975Cys) rs575358435 0.00001
NM_000287.4(PEX6):c.2928G>A (p.Lys976=) rs1230978438 0.00001
NM_000287.4(PEX6):c.340C>T (p.Pro114Ser) rs1561831093 0.00001
NM_000287.4(PEX6):c.348C>T (p.Leu116=) rs746578841 0.00001
NM_000287.4(PEX6):c.358G>A (p.Val120Ile) rs918929371 0.00001
NM_000287.4(PEX6):c.360C>T (p.Val120=) rs777743656 0.00001
NM_000287.4(PEX6):c.39G>A (p.Pro13=) rs908372737 0.00001
NM_000287.4(PEX6):c.400C>G (p.Pro134Ala) rs760985292 0.00001
NM_000287.4(PEX6):c.402C>T (p.Pro134=) rs773371109 0.00001
NM_000287.4(PEX6):c.406_407insT (p.Pro136fs) rs1561830903 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.432G>T (p.Ala144=) rs1400693848 0.00001
NM_000287.4(PEX6):c.444G>A (p.Leu148=) rs1022934488 0.00001
NM_000287.4(PEX6):c.460C>G (p.Arg154Gly) rs746681634 0.00001
NM_000287.4(PEX6):c.468T>C (p.Ala156=) rs1254015920 0.00001
NM_000287.4(PEX6):c.478C>T (p.Leu160Phe) rs1336576924 0.00001
NM_000287.4(PEX6):c.484G>T (p.Gly162Trp) rs1359274674 0.00001
NM_000287.4(PEX6):c.496C>G (p.Leu166Val) rs1770417803 0.00001
NM_000287.4(PEX6):c.510_511del (p.Asp172fs) rs61753211 0.00001
NM_000287.4(PEX6):c.517del (p.Ser173fs) rs61753212 0.00001
NM_000287.4(PEX6):c.533C>G (p.Pro178Arg) rs1303061971 0.00001
NM_000287.4(PEX6):c.611C>G (p.Ser204Ter) rs773056086 0.00001
NM_000287.4(PEX6):c.615A>G (p.Leu205=) rs1417378536 0.00001
NM_000287.4(PEX6):c.618G>A (p.Gly206=) rs200477648 0.00001
NM_000287.4(PEX6):c.625C>T (p.Arg209Trp) rs749292690 0.00001
NM_000287.4(PEX6):c.686G>A (p.Arg229Lys) rs1260446318 0.00001
NM_000287.4(PEX6):c.693A>G (p.Ser231=) rs1379751437 0.00001
NM_000287.4(PEX6):c.719C>G (p.Ala240Gly) rs372269200 0.00001
NM_000287.4(PEX6):c.735A>G (p.Leu245=) rs749029501 0.00001
NM_000287.4(PEX6):c.757G>A (p.Asp253Asn) rs1259137255 0.00001
NM_000287.4(PEX6):c.759T>C (p.Asp253=) rs374342179 0.00001
NM_000287.4(PEX6):c.75C>T (p.Pro25=) rs1189384100 0.00001
NM_000287.4(PEX6):c.762A>G (p.Arg254=) rs777826616 0.00001
NM_000287.4(PEX6):c.773G>C (p.Gly258Ala) rs1030087734 0.00001
NM_000287.4(PEX6):c.777T>C (p.Ser259=) rs1229021041 0.00001
NM_000287.4(PEX6):c.783G>T (p.Pro261=) rs765629238 0.00001
NM_000287.4(PEX6):c.795C>G (p.Pro265=) rs545106357 0.00001
NM_000287.4(PEX6):c.804C>T (p.Asp268=) rs761372470 0.00001
NM_000287.4(PEX6):c.834T>A (p.Ala278=) rs75600837 0.00001
NM_000287.4(PEX6):c.84G>A (p.Pro28=) rs1236425028 0.00001
NM_000287.4(PEX6):c.883-8T>C rs777174653 0.00001
NM_000287.4(PEX6):c.901A>G (p.Ile301Val) rs578234477 0.00001
NM_000287.4(PEX6):c.928T>G (p.Ser310Ala) rs1770228334 0.00001
NM_000287.4(PEX6):c.946C>G (p.Pro316Ala) rs1200072500 0.00001
NM_000287.4(PEX6):c.960G>A (p.Glu320=) rs936251509 0.00001
NM_000287.4(PEX6):c.987C>G (p.Pro329=) rs775893741 0.00001
NM_000287.4(PEX6):c.990C>T (p.His330=) rs947712788 0.00001
NC_000006.11:g.(?_42941721)_(42942796_?)del
NC_000006.11:g.(?_42942593)_(42946888_?)del
NC_000006.12:g.(?_42968280)_(42979253_?)del
NC_000006.12:g.(?_42974865)_(42975048_?)del
NC_000006.12:g.42965156_42965157insTTTTTTTTTTTTTTTTTNNNNNNNNNNAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCACAGCTTGTCAAATCTTT
NM_000287.4(PEX6):c.*368G>A rs866465109
NM_000287.4(PEX6):c.*407T>G rs886061409
NM_000287.4(PEX6):c.100C>T (p.Leu34=) rs2150240766
NM_000287.4(PEX6):c.1010A>T (p.Tyr337Phe)
NM_000287.4(PEX6):c.1011T>C (p.Tyr337=)
NM_000287.4(PEX6):c.1012G>A (p.Asp338Asn) rs2150236006
NM_000287.4(PEX6):c.1013A>G (p.Asp338Gly)
NM_000287.4(PEX6):c.1015G>A (p.Gly339Ser)
NM_000287.4(PEX6):c.1017T>C (p.Gly339=) rs2150235982
NM_000287.4(PEX6):c.1018G>A (p.Val340Ile)
NM_000287.4(PEX6):c.1027del (p.Arg343fs) rs1388178333
NM_000287.4(PEX6):c.1029G>A (p.Arg343=)
NM_000287.4(PEX6):c.1036C>A (p.Gln346Lys)
NM_000287.4(PEX6):c.1036C>T (p.Gln346Ter)
NM_000287.4(PEX6):c.1044C>G (p.Pro348=)
NM_000287.4(PEX6):c.1046+14C>T
NM_000287.4(PEX6):c.1046+15C>A
NM_000287.4(PEX6):c.1046+15C>T rs778415507
NM_000287.4(PEX6):c.1046+16T>A
NM_000287.4(PEX6):c.1046+19T>C
NM_000287.4(PEX6):c.1046+1G>A rs1554127968
NM_000287.4(PEX6):c.1046+1G>T
NM_000287.4(PEX6):c.1046+20A>T
NM_000287.4(PEX6):c.1046+3_1046+5dup
NM_000287.4(PEX6):c.1046+3_1046+7dup
NM_000287.4(PEX6):c.1047-17C>T
NM_000287.4(PEX6):c.1047-3C>T rs2150235001
NM_000287.4(PEX6):c.1047-4G>A
NM_000287.4(PEX6):c.1047-7G>A rs768222448
NM_000287.4(PEX6):c.104_109dup (p.Leu36_Val37insGlyLeu)
NM_000287.4(PEX6):c.1050A>C (p.Val350=) rs2150234993
NM_000287.4(PEX6):c.1053C>G (p.Val351=) rs2150234991
NM_000287.4(PEX6):c.1054C>T (p.Gln352Ter) rs267608212
NM_000287.4(PEX6):c.105C>T (p.Gly35=)
NM_000287.4(PEX6):c.1062G>A (p.Gly354=) rs2150234981
NM_000287.4(PEX6):c.106C>A (p.Leu36Met) rs758416830
NM_000287.4(PEX6):c.1072del (p.Cys358fs)
NM_000287.4(PEX6):c.1074T>A (p.Cys358Ter) rs1478799269
NM_000287.4(PEX6):c.1074T>C (p.Cys358=)
NM_000287.4(PEX6):c.1075G>C (p.Val359Leu) rs2150234968
NM_000287.4(PEX6):c.1080A>T (p.Pro360=) rs2150234963
NM_000287.4(PEX6):c.1091A>G (p.Gln364Arg) rs1282588166
NM_000287.4(PEX6):c.1092A>G (p.Gln364=) rs1241222298
NM_000287.4(PEX6):c.1094del (p.Val365fs)
NM_000287.4(PEX6):c.1098_1099del (p.Glu366fs) rs1189098622
NM_000287.4(PEX6):c.10_216delinsCCACCCGGGGGCCCGTGGCCGGCGGCGGAGCTGGGCCTGGTGCTGGCCCTGAGGC (p.Ala4fs) rs2150240574
NM_000287.4(PEX6):c.1109_1112del (p.Gly370fs) rs2150234919
NM_000287.4(PEX6):c.1110A>G (p.Gly370=) rs886061411
NM_000287.4(PEX6):c.1119del (p.Lys374fs)
NM_000287.4(PEX6):c.1123C>T (p.Leu375=)
NM_000287.4(PEX6):c.1127_1128del (p.Pro376fs)
NM_000287.4(PEX6):c.1130+10T>C rs2150234874
NM_000287.4(PEX6):c.1130+13C>T
NM_000287.4(PEX6):c.1130+18G>A rs201799034
NM_000287.4(PEX6):c.1130+1G>A rs267608213
NM_000287.4(PEX6):c.1130+1G>T rs267608213
NM_000287.4(PEX6):c.1130+6C>T rs2150234879
NM_000287.4(PEX6):c.1130+7A>G
NM_000287.4(PEX6):c.1131-10T>C
NM_000287.4(PEX6):c.1131-13del rs2114248435
NM_000287.4(PEX6):c.1131-19T>A rs761325258
NM_000287.4(PEX6):c.1131-19T>C
NM_000287.4(PEX6):c.1131-20A>C
NM_000287.4(PEX6):c.1131-20A>T rs1052860167
NM_000287.4(PEX6):c.1131-3C>A
NM_000287.4(PEX6):c.1131-8T>C
NM_000287.4(PEX6):c.1131-9T>C rs1770006982
NM_000287.4(PEX6):c.1131G>A (p.Arg377=)
NM_000287.4(PEX6):c.1133G>A (p.Trp378Ter)
NM_000287.4(PEX6):c.1135C>T (p.Arg379Trp)
NM_000287.4(PEX6):c.1136G>A (p.Arg379Gln)
NM_000287.4(PEX6):c.1137G>A (p.Arg379=) rs766574538
NM_000287.4(PEX6):c.1138G>A (p.Glu380Lys)
NM_000287.4(PEX6):c.1138dup (p.Glu380fs) rs2114248372
NM_000287.4(PEX6):c.1149_1150insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGGAAATGTTTTTT (p.Lys384delinsPhePhePhePhePhePheXaaXaaXaaXaaProProProSerArgThrGlyArgLeuAlaArgArgGlyGlyGlyTer)
NM_000287.4(PEX6):c.1152_1154del (p.Val385del) rs1770004572
NM_000287.4(PEX6):c.1155G>A (p.Val385=)
NM_000287.4(PEX6):c.1155G>T (p.Val385=)
NM_000287.4(PEX6):c.1156A>T (p.Lys386Ter) rs2114248288
NM_000287.4(PEX6):c.1158G>A (p.Lys386=)
NM_000287.4(PEX6):c.115G>A (p.Ala39Thr)
NM_000287.4(PEX6):c.1166T>C (p.Val389Ala) rs1043201555
NM_000287.4(PEX6):c.1167T>C (p.Val389=)
NM_000287.4(PEX6):c.1173A>G (p.Glu391=)
NM_000287.4(PEX6):c.1178C>T (p.Pro393Leu)
NM_000287.4(PEX6):c.1179A>G (p.Pro393=) rs2114248207
NM_000287.4(PEX6):c.1181A>G (p.Asp394Gly)
NM_000287.4(PEX6):c.1183G>A (p.Gly395Arg)
NM_000287.4(PEX6):c.1183G>C (p.Gly395Arg)
NM_000287.4(PEX6):c.1186C>T (p.Pro396Ser) rs1239197537
NM_000287.4(PEX6):c.1187C>T (p.Pro396Leu)
NM_000287.4(PEX6):c.1194T>C (p.Ser398=) rs762820334
NM_000287.4(PEX6):c.1202T>A (p.Leu401Ter) rs886044436
NM_000287.4(PEX6):c.1203G>A (p.Leu401=)
NM_000287.4(PEX6):c.1209C>T (p.Asp403=)
NM_000287.4(PEX6):c.120G>A (p.Leu40=)
NM_000287.4(PEX6):c.1212C>A (p.Thr404=)
NM_000287.4(PEX6):c.1212C>G (p.Thr404=)
NM_000287.4(PEX6):c.1212C>T (p.Thr404=)
NM_000287.4(PEX6):c.1215C>A (p.Thr405=)
NM_000287.4(PEX6):c.1216dup (p.His406fs) rs2114248084
NM_000287.4(PEX6):c.1220C>A (p.Thr407Asn) rs886043987
NM_000287.4(PEX6):c.1220CCT[1] (p.Ser408del)
NM_000287.4(PEX6):c.1221C>G (p.Thr407=) rs1437814393
NM_000287.4(PEX6):c.1221C>T (p.Thr407=)
NM_000287.4(PEX6):c.1224C>T (p.Ser408=) rs2114248061
NM_000287.4(PEX6):c.1226T>C (p.Leu409Ser) rs1355523119
NM_000287.4(PEX6):c.1230C>T (p.Tyr410=) rs1390461246
NM_000287.4(PEX6):c.1232T>C (p.Met411Thr) rs566310924
NM_000287.4(PEX6):c.1233+10C>T rs2114247999
NM_000287.4(PEX6):c.1233+11A>T
NM_000287.4(PEX6):c.1233+12A>T rs2114247994
NM_000287.4(PEX6):c.1233+14G>A
NM_000287.4(PEX6):c.1233+15A>G
NM_000287.4(PEX6):c.1233+16T>C rs2114247984
NM_000287.4(PEX6):c.1233+19G>C rs989072078
NM_000287.4(PEX6):c.1233+20T>A
NM_000287.4(PEX6):c.1233+9C>T
NM_000287.4(PEX6):c.1234-11A>T rs201879957
NM_000287.4(PEX6):c.1234-11del
NM_000287.4(PEX6):c.1234-14A>G
NM_000287.4(PEX6):c.1234-15T>C
NM_000287.4(PEX6):c.1234-2A>G rs2114247797
NM_000287.4(PEX6):c.1234-4A>G rs2114247807
NM_000287.4(PEX6):c.1234-8T>C
NM_000287.4(PEX6):c.1234-8_1234-7dup rs200121485
NM_000287.4(PEX6):c.1234-9C>G
NM_000287.4(PEX6):c.1234G>A (p.Val412Met)
NM_000287.4(PEX6):c.1236G>T (p.Val412=)
NM_000287.4(PEX6):c.1238G>T (p.Gly413Val) rs1554127531
NM_000287.4(PEX6):c.1239T>G (p.Gly413=)
NM_000287.4(PEX6):c.123G>A (p.Arg41=) rs1561831496
NM_000287.4(PEX6):c.1246C>T (p.Leu416=) rs766038568
NM_000287.4(PEX6):c.1255G>C (p.Val419Leu) rs773054165
NM_000287.4(PEX6):c.125C>T (p.Pro42Leu) rs960906617
NM_000287.4(PEX6):c.1263G>A (p.Trp421Ter)
NM_000287.4(PEX6):c.1264C>T (p.Leu422Phe)
NM_000287.4(PEX6):c.1266C>T (p.Leu422=) rs1260688458
NM_000287.4(PEX6):c.1276G>T (p.Glu426Ter)
NM_000287.4(PEX6):c.127G>T (p.Ala43Ser) rs1770442809
NM_000287.4(PEX6):c.1287C>G (p.Leu429=) rs2114247608
NM_000287.4(PEX6):c.1297T>C (p.Leu433=)
NM_000287.4(PEX6):c.1299G>T (p.Leu433Phe)
NM_000287.4(PEX6):c.129A>G (p.Ala43=)
NM_000287.4(PEX6):c.129A>T (p.Ala43=) rs1445718475
NM_000287.4(PEX6):c.1301C>T (p.Ser434Phe)
NM_000287.4(PEX6):c.1301del (p.Ser434fs) rs62641231
NM_000287.4(PEX6):c.1302T>C (p.Ser434=)
NM_000287.4(PEX6):c.1305T>C (p.Pro435=) rs2114247560
NM_000287.4(PEX6):c.1310G>A (p.Gly437Asp) rs771063294
NM_000287.4(PEX6):c.1311C>T (p.Gly437=) rs748214049
NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs) rs267608216
NM_000287.4(PEX6):c.1315del (p.Glu439fs)
NM_000287.4(PEX6):c.1320C>T (p.Ala440=) rs2114247492
NM_000287.4(PEX6):c.1326dup (p.Ser443fs) rs2114247458
NM_000287.4(PEX6):c.1329T>G (p.Ser443=)
NM_000287.4(PEX6):c.132G>A (p.Gly44=) rs1166800127
NM_000287.4(PEX6):c.1335C>A (p.Leu445=)
NM_000287.4(PEX6):c.1338_1339del (p.Ala447fs) rs398123303
NM_000287.4(PEX6):c.133G>T (p.Glu45Ter) rs1356280167
NM_000287.4(PEX6):c.133_147dup (p.Glu45_Gly49dup) rs1421584986
NM_000287.4(PEX6):c.1341T>C (p.Ala447=)
NM_000287.4(PEX6):c.1347G>A (p.Leu449=)
NM_000287.4(PEX6):c.1347G>T (p.Leu449=)
NM_000287.4(PEX6):c.1350_1351delinsAA (p.Pro451Thr)
NM_000287.4(PEX6):c.1352del (p.Pro451fs)
NM_000287.4(PEX6):c.1354C>G (p.Arg452Gly)
NM_000287.4(PEX6):c.1357C>T (p.Leu453Phe) rs1769988827
NM_000287.4(PEX6):c.1357del (p.Leu453fs) rs2114247385
NM_000287.4(PEX6):c.135G>A (p.Glu45=) rs2150240712
NM_000287.4(PEX6):c.1360C>T (p.Gln454Ter) rs1554127491
NM_000287.4(PEX6):c.1367+10del rs2114247320
NM_000287.4(PEX6):c.1367+12C>T
NM_000287.4(PEX6):c.1367+12_1367+25del
NM_000287.4(PEX6):c.1367+13A>C
NM_000287.4(PEX6):c.1367+17C>G
NM_000287.4(PEX6):c.1367+17C>T
NM_000287.4(PEX6):c.1367+18C>A
NM_000287.4(PEX6):c.1367+1G>A rs1769988075
NM_000287.4(PEX6):c.1367+2T>C
NM_000287.4(PEX6):c.1367+6T>C rs2114247326
NM_000287.4(PEX6):c.1367+9G>T
NM_000287.4(PEX6):c.1368-10C>A
NM_000287.4(PEX6):c.1368-12C>G rs1335461045
NM_000287.4(PEX6):c.1368-15G>A
NM_000287.4(PEX6):c.1368-20T>C
NM_000287.4(PEX6):c.1368-2del rs1554127415
NM_000287.4(PEX6):c.1368G>A (p.Gly456=) rs763725671
NM_000287.4(PEX6):c.1370G>A (p.Gly457Asp)
NM_000287.4(PEX6):c.1373C>A (p.Ala458Asp)
NM_000287.4(PEX6):c.1375C>T (p.Leu459=)
NM_000287.4(PEX6):c.1377G>C (p.Leu459=)
NM_000287.4(PEX6):c.1377G>T (p.Leu459=)
NM_000287.4(PEX6):c.1378C>T (p.Leu460=)
NM_000287.4(PEX6):c.137G>C (p.Ser46Thr)
NM_000287.4(PEX6):c.1382C>G (p.Thr461Arg) rs2114246115
NM_000287.4(PEX6):c.1383A>G (p.Thr461=)
NM_000287.4(PEX6):c.1386A>G (p.Gly462=) rs2114246091
NM_000287.4(PEX6):c.1388C>T (p.Thr463Ile)
NM_000287.4(PEX6):c.1389T>A (p.Thr463=) rs2114246068
NM_000287.4(PEX6):c.1394G>C (p.Ser465Thr) rs2114246040
NM_000287.4(PEX6):c.1396G>A (p.Val466Ile)
NM_000287.4(PEX6):c.1399C>T (p.Leu467Phe) rs2114246028
NM_000287.4(PEX6):c.1401T>A (p.Leu467=)
NM_000287.4(PEX6):c.1401_1403del (p.Leu468del) rs1222318292
NM_000287.4(PEX6):c.1402_1403del (p.Leu468fs)
NM_000287.4(PEX6):c.1404A>G (p.Leu468=)
NM_000287.4(PEX6):c.1404del (p.Arg469fs) rs267608218
NM_000287.4(PEX6):c.1406_1474del (p.Arg469_Leu491del)
NM_000287.4(PEX6):c.1407G>A (p.Arg469=)
NM_000287.4(PEX6):c.1409G>C (p.Gly470Ala) rs1561823098
NM_000287.4(PEX6):c.140C>A (p.Pro47Gln) rs1299683224
NM_000287.4(PEX6):c.1410C>A (p.Gly470=)
NM_000287.4(PEX6):c.1413C>T (p.Pro471=)
NM_000287.4(PEX6):c.1415C>T (p.Pro472Leu) rs1769951744
NM_000287.4(PEX6):c.1415del (p.Pro472fs) rs267608219
NM_000287.4(PEX6):c.1415dup (p.Gly473fs)
NM_000287.4(PEX6):c.141G>A (p.Pro47=) rs1464923917
NM_000287.4(PEX6):c.1428G>A (p.Lys476=)
NM_000287.4(PEX6):c.1429A>G (p.Thr477Ala) rs2114245927
NM_000287.4(PEX6):c.1438G>A (p.Val480Ile) rs2114245909
NM_000287.4(PEX6):c.1440T>C (p.Val480=)
NM_000287.4(PEX6):c.1440TGC[2] (p.Ala483del) rs1554127389
NM_000287.4(PEX6):c.1449C>A (p.Ala483=)
NM_000287.4(PEX6):c.1456C>T (p.His486Tyr) rs1320010518
NM_000287.4(PEX6):c.1458C>T (p.His486=)
NM_000287.4(PEX6):c.1463G>A (p.Gly488Glu)
NM_000287.4(PEX6):c.1464G>T (p.Gly488=) rs1581764611
NM_000287.4(PEX6):c.1470C>T (p.His490=) rs897608716
NM_000287.4(PEX6):c.1476G>A (p.Leu492=) rs2114245819
NM_000287.4(PEX6):c.1478A>T (p.Lys493Met)
NM_000287.4(PEX6):c.1479+10_1479+11insA
NM_000287.4(PEX6):c.1479+11_1479+12del
NM_000287.4(PEX6):c.1479+12T>C
NM_000287.4(PEX6):c.1479+13G>C
NM_000287.4(PEX6):c.1479+1G>A
NM_000287.4(PEX6):c.1479+2del rs1554127383
NM_000287.4(PEX6):c.1479+4A>T rs2114245810
NM_000287.4(PEX6):c.1479+6_1479+9del
NM_000287.4(PEX6):c.1479+7G>A rs528161793
NM_000287.4(PEX6):c.1479+7G>T rs528161793
NM_000287.4(PEX6):c.1479+9C>A
NM_000287.4(PEX6):c.1480-11C>A
NM_000287.4(PEX6):c.1480-17T>C
NM_000287.4(PEX6):c.1480-4C>T
NM_000287.4(PEX6):c.1480-6C>T
NM_000287.4(PEX6):c.1480-7T>C
NM_000287.4(PEX6):c.1480-8C>T
NM_000287.4(PEX6):c.1480-9C>T rs1421047167
NM_000287.4(PEX6):c.1482G>A (p.Val494=)
NM_000287.4(PEX6):c.1483C>T (p.Pro495Ser)
NM_000287.4(PEX6):c.1489T>C (p.Ser497Pro) rs2114245129
NM_000287.4(PEX6):c.1497C>T (p.Leu499=)
NM_000287.4(PEX6):c.1504G>T (p.Glu502Ter)
NM_000287.4(PEX6):c.1509T>C (p.Ser503=) rs1268177698
NM_000287.4(PEX6):c.150G>A (p.Pro50=) rs1475357223
NM_000287.4(PEX6):c.1513G>A (p.Gly505Arg) rs1769929969
NM_000287.4(PEX6):c.1515G>C (p.Gly505=) rs1335610343
NM_000287.4(PEX6):c.1518T>C (p.Ala506=)
NM_000287.4(PEX6):c.1519G>A (p.Val507Met)
NM_000287.4(PEX6):c.1519G>C (p.Val507Leu) rs1355702643
NM_000287.4(PEX6):c.1521G>A (p.Val507=)
NM_000287.4(PEX6):c.1522del (p.Glu508fs) rs754684285
NM_000287.4(PEX6):c.1524G>A (p.Glu508=)
NM_000287.4(PEX6):c.152C>T (p.Ala51Val)
NM_000287.4(PEX6):c.1536G>A (p.Gln512=)
NM_000287.4(PEX6):c.1539C>T (p.Ala513=)
NM_000287.4(PEX6):c.153G>A (p.Ala51=) rs1179672531
NM_000287.4(PEX6):c.1544T>A (p.Phe515Tyr) rs778534336
NM_000287.4(PEX6):c.1544T>C (p.Phe515Ser)
NM_000287.4(PEX6):c.1547C>G (p.Ser516Cys)
NM_000287.4(PEX6):c.1548C>T (p.Ser516=) rs2114244957
NM_000287.4(PEX6):c.1549C>A (p.Arg517=) rs754790139
NM_000287.4(PEX6):c.154C>G (p.Leu52Val) rs2150240677
NM_000287.4(PEX6):c.1550G>C (p.Arg517Pro) rs371782808
NM_000287.4(PEX6):c.1551G>A (p.Arg517=)
NM_000287.4(PEX6):c.1551G>C (p.Arg517=) rs766045376
NM_000287.4(PEX6):c.1551G>T (p.Arg517=) rs766045376
NM_000287.4(PEX6):c.1556G>T (p.Arg519Leu)
NM_000287.4(PEX6):c.1557C>T (p.Arg519=)
NM_000287.4(PEX6):c.1559G>A (p.Arg520His)
NM_000287.4(PEX6):c.1559G>T (p.Arg520Leu)
NM_000287.4(PEX6):c.1564C>T (p.Arg522Trp)
NM_000287.4(PEX6):c.1565G>A (p.Arg522Gln) rs374396138
NM_000287.4(PEX6):c.1565G>C (p.Arg522Pro)
NM_000287.4(PEX6):c.1566G>C (p.Arg522=)
NM_000287.4(PEX6):c.1566G>T (p.Arg522=) rs950336722
NM_000287.4(PEX6):c.1570G>A (p.Ala524Thr)
NM_000287.4(PEX6):c.1573dup (p.Val525fs) rs2114244815
NM_000287.4(PEX6):c.1586C>T (p.Thr529Ile) rs771639281
NM_000287.4(PEX6):c.1586_1587dup (p.Ala530fs)
NM_000287.4(PEX6):c.1587A>G (p.Thr529=)
NM_000287.4(PEX6):c.1588G>T (p.Ala530Ser)
NM_000287.4(PEX6):c.159G>A (p.Leu53=) rs2150240669
NM_000287.4(PEX6):c.159G>T (p.Leu53=) rs2150240669
NM_000287.4(PEX6):c.1601T>C (p.Leu534Pro) rs387906809
NM_000287.4(PEX6):c.160_243del (p.Val54_Leu81del) rs1770436260
NM_000287.4(PEX6):c.1611C>G (p.Asp537Glu) rs2114244744
NM_000287.4(PEX6):c.1618G>A (p.Gly540Arg)
NM_000287.4(PEX6):c.161T>G (p.Val54Gly) rs2150240668
NM_000287.4(PEX6):c.1620G>A (p.Gly540=) rs2114244710
NM_000287.4(PEX6):c.1624G>A (p.Gly542Ser) rs1769923693
NM_000287.4(PEX6):c.1627G>A (p.Glu543Lys) rs143549190
NM_000287.4(PEX6):c.1629G>C (p.Glu543Asp)
NM_000287.4(PEX6):c.1630G>A (p.Asp544Asn) rs2114244681
NM_000287.4(PEX6):c.1632T>C (p.Asp544=)
NM_000287.4(PEX6):c.1634C>T (p.Ala545Val) rs2114244672
NM_000287.4(PEX6):c.1638T>C (p.Arg546=) rs1769922737
NM_000287.4(PEX6):c.1638T>G (p.Arg546=)
NM_000287.4(PEX6):c.1639G>A (p.Val547Met)
NM_000287.4(PEX6):c.1640_1641del (p.Val547fs)
NM_000287.4(PEX6):c.1642A>G (p.Met548Val)
NM_000287.4(PEX6):c.1644G>C (p.Met548Ile)
NM_000287.4(PEX6):c.1655G>A (p.Arg552His)
NM_000287.4(PEX6):c.1665C>T (p.Leu555=) rs777182627
NM_000287.4(PEX6):c.1668C>A (p.Leu556=)
NM_000287.4(PEX6):c.1672G>A (p.Glu558Lys)
NM_000287.4(PEX6):c.1674G>A (p.Glu558=)
NM_000287.4(PEX6):c.1677C>T (p.Asp559=)
NM_000287.4(PEX6):c.1681C>T (p.Leu561Phe)
NM_000287.4(PEX6):c.1681del (p.Leu561fs) rs1200299979
NM_000287.4(PEX6):c.1683C>T (p.Leu561=)
NM_000287.4(PEX6):c.1685A>G (p.Asn562Ser)
NM_000287.4(PEX6):c.1686C>T (p.Asn562=)
NM_000287.4(PEX6):c.1688+11A>T
NM_000287.4(PEX6):c.1688+1G>A rs112298166
NM_000287.4(PEX6):c.1688+1G>T rs112298166
NM_000287.4(PEX6):c.1688+20C>T rs2114244389
NM_000287.4(PEX6):c.1688+8T>C rs2114244420
NM_000287.4(PEX6):c.1689-10C>G
NM_000287.4(PEX6):c.1689-12C>T
NM_000287.4(PEX6):c.1689-16A>G
NM_000287.4(PEX6):c.1689-17C>G
NM_000287.4(PEX6):c.1689-18C>T
NM_000287.4(PEX6):c.1689-1G>A rs267608223
NM_000287.4(PEX6):c.1689-20G>A
NM_000287.4(PEX6):c.1689-3C>T rs769573987
NM_000287.4(PEX6):c.1689-8G>T rs2114242954
NM_000287.4(PEX6):c.1690_1693dup (p.Pro565fs) rs2114242907
NM_000287.4(PEX6):c.1691del (p.Cys564fs) rs2114242920
NM_000287.4(PEX6):c.1692C>T (p.Cys564=) rs1385474057
NM_000287.4(PEX6):c.1698C>T (p.Pro566=) rs745479170
NM_000287.4(PEX6):c.1699C>A (p.Leu567Ile)
NM_000287.4(PEX6):c.16T>C (p.Leu6=)
NM_000287.4(PEX6):c.1702A>T (p.Met568Leu) rs2114242869
NM_000287.4(PEX6):c.1706T>C (p.Val569Ala)
NM_000287.4(PEX6):c.1708G>A (p.Val570Met) rs2114242847
NM_000287.4(PEX6):c.1709T>C (p.Val570Ala)
NM_000287.4(PEX6):c.170T>C (p.Leu57Pro) rs61752140
NM_000287.4(PEX6):c.1715C>T (p.Thr572Ile) rs61753224
NM_000287.4(PEX6):c.1716C>A (p.Thr572=) rs2114242807
NM_000287.4(PEX6):c.1719A>T (p.Thr573=)
NM_000287.4(PEX6):c.171G>A (p.Leu57=) rs1233980145
NM_000287.4(PEX6):c.171G>C (p.Leu57=) rs1233980145
NM_000287.4(PEX6):c.1723C>A (p.Arg575=) rs755211783
NM_000287.4(PEX6):c.1723C>T (p.Arg575Trp) rs755211783
NM_000287.4(PEX6):c.1724G>A (p.Arg575Gln) rs754034834
NM_000287.4(PEX6):c.1724G>T (p.Arg575Leu)
NM_000287.4(PEX6):c.1734C>T (p.Asp578=) rs1769880127
NM_000287.4(PEX6):c.1737G>C (p.Leu579=)
NM_000287.4(PEX6):c.1740T>G (p.Pro580=) rs2114242721
NM_000287.4(PEX6):c.1741G>A (p.Ala581Thr) rs1316254924
NM_000287.4(PEX6):c.1743T>C (p.Ala581=)
NM_000287.4(PEX6):c.174G>A (p.Glu58=) rs2150240649
NM_000287.4(PEX6):c.1750C>T (p.Gln584Ter)
NM_000287.4(PEX6):c.1756G>A (p.Ala586Thr) rs1309200431
NM_000287.4(PEX6):c.1756_1757delinsAA (p.Ala586Lys)
NM_000287.4(PEX6):c.1765C>T (p.His589Tyr) rs2114242678
NM_000287.4(PEX6):c.1771C>T (p.Leu591Phe) rs2114242669
NM_000287.4(PEX6):c.1774G>A (p.Glu592Lys) rs375288192
NM_000287.4(PEX6):c.1774G>C (p.Glu592Gln) rs375288192
NM_000287.4(PEX6):c.1774G>T (p.Glu592Ter) rs375288192
NM_000287.4(PEX6):c.1782_1807dup (p.Ser603fs) rs2114242538
NM_000287.4(PEX6):c.1783G>A (p.Ala595Thr)
NM_000287.4(PEX6):c.1785T>C (p.Ala595=) rs2114242625
NM_000287.4(PEX6):c.1788G>A (p.Leu596=) rs2114242620
NM_000287.4(PEX6):c.1788G>C (p.Leu596=) rs2114242620
NM_000287.4(PEX6):c.1789T>C (p.Ser597Pro)
NM_000287.4(PEX6):c.1790C>G (p.Ser597Ter)
NM_000287.4(PEX6):c.179C>T (p.Pro60Leu)
NM_000287.4(PEX6):c.1805del (p.Leu602fs) rs2114242547
NM_000287.4(PEX6):c.1809C>T (p.Ser603=)
NM_000287.4(PEX6):c.180G>A (p.Pro60=) rs2150240640
NM_000287.4(PEX6):c.180G>T (p.Pro60=) rs2150240640
NM_000287.4(PEX6):c.1812C>A (p.Ile604=) rs2114242525
NM_000287.4(PEX6):c.1816C>T (p.Arg606Trp)
NM_000287.4(PEX6):c.1818G>A (p.Arg606=) rs2114242478
NM_000287.4(PEX6):c.181G>A (p.Asp61Asn)
NM_000287.4(PEX6):c.1821C>A (p.Ala607=) rs201730259
NM_000287.4(PEX6):c.1823T>C (p.Leu608Pro) rs1561821635
NM_000287.4(PEX6):c.1824C>T (p.Leu608=)
NM_000287.4(PEX6):c.1826C>T (p.Thr609Ile) rs2114242443
NM_000287.4(PEX6):c.1833C>G (p.His611Gln) rs1335182312
NM_000287.4(PEX6):c.1833C>T (p.His611=) rs1335182312
NM_000287.4(PEX6):c.183C>T (p.Asp61=) rs2150240636
NM_000287.4(PEX6):c.1842G>A (p.Leu614=)
NM_000287.4(PEX6):c.1849G>A (p.Glu617Lys)
NM_000287.4(PEX6):c.1851G>A (p.Glu617=) rs1769870435
NM_000287.4(PEX6):c.1854G>T (p.Val618=) rs990806538
NM_000287.4(PEX6):c.1866G>A (p.Gln622=)
NM_000287.4(PEX6):c.1866G>T (p.Gln622His)
NM_000287.4(PEX6):c.186G>A (p.Ala62=)
NM_000287.4(PEX6):c.1870G>T (p.Ala624Ser)
NM_000287.4(PEX6):c.1871C>T (p.Ala624Val) rs2114242326
NM_000287.4(PEX6):c.1872A>G (p.Ala624=) rs2114242320
NM_000287.4(PEX6):c.1873C>T (p.Arg625Trp)
NM_000287.4(PEX6):c.1874G>A (p.Arg625Gln) rs1769868642
NM_000287.4(PEX6):c.1875G>A (p.Arg625=)
NM_000287.4(PEX6):c.1878G>A (p.Arg626=)
NM_000287.4(PEX6):c.187G>T (p.Gly63Cys)
NM_000287.4(PEX6):c.1880G>A (p.Cys627Tyr) rs2114242285
NM_000287.4(PEX6):c.1881T>G (p.Cys627Trp)
NM_000287.4(PEX6):c.1884+10A>G rs2114242251
NM_000287.4(PEX6):c.1884+11A>G rs2114242243
NM_000287.4(PEX6):c.1884+14G>A
NM_000287.4(PEX6):c.1884+15A>G
NM_000287.4(PEX6):c.1884+18G>A
NM_000287.4(PEX6):c.1884+18G>T
NM_000287.4(PEX6):c.1884+1G>A
NM_000287.4(PEX6):c.1884+20A>T
NM_000287.4(PEX6):c.1884+8T>G rs2114242263
NM_000287.4(PEX6):c.1885-19C>A
NM_000287.4(PEX6):c.1885-1G>A
NM_000287.4(PEX6):c.1885-20C>T
NM_000287.4(PEX6):c.1885-4del
NM_000287.4(PEX6):c.1885-5C>T
NM_000287.4(PEX6):c.1885-6C>T
NM_000287.4(PEX6):c.1887C>A (p.Gly629=) rs2114241047
NM_000287.4(PEX6):c.1891del (p.Val631fs) rs2114241031
NM_000287.4(PEX6):c.1893G>A (p.Val631=)
NM_000287.4(PEX6):c.1893G>C (p.Val631=)
NM_000287.4(PEX6):c.1896A>T (p.Val632=) rs2114241015
NM_000287.4(PEX6):c.1899G>A (p.Gly633=)
NM_000287.4(PEX6):c.18G>A (p.Leu6=) rs2150240933
NM_000287.4(PEX6):c.1900G>A (p.Asp634Asn) rs2114241000
NM_000287.4(PEX6):c.1900G>T (p.Asp634Tyr)
NM_000287.4(PEX6):c.1905C>T (p.Leu635=)
NM_000287.4(PEX6):c.1908T>A (p.Tyr636Ter)
NM_000287.4(PEX6):c.1910C>G (p.Ala637Gly) rs2114240982
NM_000287.4(PEX6):c.1920C>T (p.Thr640=) rs768582992
NM_000287.4(PEX6):c.1922A>C (p.His641Pro)
NM_000287.4(PEX6):c.1923C>T (p.His641=)
NM_000287.4(PEX6):c.192C>A (p.Thr64=) rs1310661091
NM_000287.4(PEX6):c.1930C>T (p.Arg644Trp) rs769896492
NM_000287.4(PEX6):c.1935A>C (p.Ala645=) rs1769827119
NM_000287.4(PEX6):c.193G>A (p.Glu65Lys)
NM_000287.4(PEX6):c.1940_1941delinsAT (p.Cys647Tyr) rs2114240908
NM_000287.4(PEX6):c.1944C>T (p.Thr648=)
NM_000287.4(PEX6):c.1947del (p.Ile650fs) rs267608227
NM_000287.4(PEX6):c.1961+11G>T
NM_000287.4(PEX6):c.1961+15G>A
NM_000287.4(PEX6):c.1961+16C>A
NM_000287.4(PEX6):c.1961+16C>T
NM_000287.4(PEX6):c.1961+18C>A
NM_000287.4(PEX6):c.1961+18C>G
NM_000287.4(PEX6):c.1961+20G>T rs2274514
NM_000287.4(PEX6):c.1962-10C>T rs2114240598
NM_000287.4(PEX6):c.1962-12del
NM_000287.4(PEX6):c.1962-17T>C
NM_000287.4(PEX6):c.1962-20C>T
NM_000287.4(PEX6):c.1962-4G>T
NM_000287.4(PEX6):c.1962-5T>G
NM_000287.4(PEX6):c.1962-6_1962-5del rs776963487
NM_000287.4(PEX6):c.1962-7T>C rs1195586544
NM_000287.4(PEX6):c.1963_1965delinsCT (p.Ala656fs)
NM_000287.4(PEX6):c.1968A>G (p.Ala656=)
NM_000287.4(PEX6):c.196G>A (p.Glu66Lys)
NM_000287.4(PEX6):c.1970G>A (p.Gly657Asp) rs2114240555
NM_000287.4(PEX6):c.1974C>A (p.Gly658=)
NM_000287.4(PEX6):c.1982A>C (p.Glu661Ala) rs2114240531
NM_000287.4(PEX6):c.1989T>C (p.Asp663=)
NM_000287.4(PEX6):c.1992G>A (p.Glu664=) rs267608230
NM_000287.4(PEX6):c.1993G>T (p.Gly665Trp)
NM_000287.4(PEX6):c.1996G>T (p.Glu666Ter) rs1769818844
NM_000287.4(PEX6):c.1998G>A (p.Glu666=)
NM_000287.4(PEX6):c.1998G>T (p.Glu666Asp)
NM_000287.4(PEX6):c.1999C>T (p.Leu667=)
NM_000287.4(PEX6):c.19C>A (p.Arg7=) rs1217791583
NM_000287.4(PEX6):c.1A>G (p.Met1Val)
NM_000287.4(PEX6):c.1A>T (p.Met1Leu)
NM_000287.4(PEX6):c.2001G>A (p.Leu667=)
NM_000287.4(PEX6):c.2010del (p.Gly671fs)
NM_000287.4(PEX6):c.2017C>T (p.Pro673Ser)
NM_000287.4(PEX6):c.2018C>G (p.Pro673Arg) rs2114240452
NM_000287.4(PEX6):c.2020_2022delinsGTCTCTTATACACATCTGT (p.Leu674fs)
NM_000287.4(PEX6):c.2022C>T (p.Leu674=)
NM_000287.4(PEX6):c.2023C>T (p.Leu675=)
NM_000287.4(PEX6):c.2026G>A (p.Ala676Thr)
NM_000287.4(PEX6):c.202G>C (p.Gly68Arg) rs752644254
NM_000287.4(PEX6):c.202_219del (p.Gly68_Gln73del) rs1162020526
NM_000287.4(PEX6):c.2031G>A (p.Glu677=)
NM_000287.4(PEX6):c.2037T>C (p.Phe679=)
NM_000287.4(PEX6):c.2040G>A (p.Gly680=) rs2114240422
NM_000287.4(PEX6):c.2049G>A (p.Leu683=) rs1769817453
NM_000287.4(PEX6):c.2058G>A (p.Leu686=)
NM_000287.4(PEX6):c.205C>T (p.Pro69Ser)
NM_000287.4(PEX6):c.2063del (p.Thr688fs)
NM_000287.4(PEX6):c.2064A>C (p.Thr688=) rs2114240371
NM_000287.4(PEX6):c.2066C>T (p.Ala689Val) rs1396207688
NM_000287.4(PEX6):c.2074C>T (p.Gln692Ter) rs201306028
NM_000287.4(PEX6):c.2079C>A (p.Ala693=)
NM_000287.4(PEX6):c.207C>G (p.Pro69=) rs11539736
NM_000287.4(PEX6):c.2082T>C (p.Val694=)
NM_000287.4(PEX6):c.2082del (p.Gly695fs) rs766483138
NM_000287.4(PEX6):c.2085A>C (p.Gly695=)
NM_000287.4(PEX6):c.2088C>G (p.Ala696=)
NM_000287.4(PEX6):c.208G>A (p.Gly70Arg) rs2150240598
NM_000287.4(PEX6):c.2091C>A (p.Pro697=)
NM_000287.4(PEX6):c.2093A>G (p.Lys698Arg) rs2114240305
NM_000287.4(PEX6):c.2094+11del
NM_000287.4(PEX6):c.2094+16T>C
NM_000287.4(PEX6):c.2094+19G>A rs2114240256
NM_000287.4(PEX6):c.2094+1G>A rs1581760572
NM_000287.4(PEX6):c.2094+4G>A rs943511270
NM_000287.4(PEX6):c.2094+4G>C rs943511270
NM_000287.4(PEX6):c.2094+4_2094+6del
NM_000287.4(PEX6):c.2094+8C>A
NM_000287.4(PEX6):c.2094+9del rs2114240279
NM_000287.4(PEX6):c.2094G>A (p.Lys698=)
NM_000287.4(PEX6):c.2095-12T>C
NM_000287.4(PEX6):c.2095-13T>C
NM_000287.4(PEX6):c.2095-15C>T
NM_000287.4(PEX6):c.2095-16A>G
NM_000287.4(PEX6):c.2095-17C>T
NM_000287.4(PEX6):c.2095-21_2095-10del rs772869377
NM_000287.4(PEX6):c.2095-2A>G
NM_000287.4(PEX6):c.2095-4C>T
NM_000287.4(PEX6):c.2095-9A>G
NM_000287.4(PEX6):c.2100C>G (p.Pro700=)
NM_000287.4(PEX6):c.2103A>G (p.Ser701=) rs2114240136
NM_000287.4(PEX6):c.2111G>C (p.Trp704Ser)
NM_000287.4(PEX6):c.2118T>C (p.Asp706=) rs1643998562
NM_000287.4(PEX6):c.2120dup (p.Gly709fs)
NM_000287.4(PEX6):c.2124_2127del (p.Gly709fs)
NM_000287.4(PEX6):c.2125G>A (p.Gly709Arg) rs1254717257
NM_000287.4(PEX6):c.2128C>T (p.Leu710=) rs2114240061
NM_000287.4(PEX6):c.212del (p.Pro71fs) rs2150240582
NM_000287.4(PEX6):c.2130G>A (p.Leu710=) rs944937782
NM_000287.4(PEX6):c.213G>C (p.Pro71=) rs1461633447
NM_000287.4(PEX6):c.2148G>C (p.Glu716Asp)
NM_000287.4(PEX6):c.2150T>C (p.Ile717Thr) rs2114239994
NM_000287.4(PEX6):c.2152C>G (p.Leu718Val) rs1769807803
NM_000287.4(PEX6):c.2154G>A (p.Leu718=) rs771745520
NM_000287.4(PEX6):c.2154_2155del (p.Glu719fs)
NM_000287.4(PEX6):c.2160C>G (p.Thr720=)
NM_000287.4(PEX6):c.2160C>T (p.Thr720=) rs1313491168
NM_000287.4(PEX6):c.2163T>C (p.Ile721=)
NM_000287.4(PEX6):c.2165_2166del (p.Gln722fs)
NM_000287.4(PEX6):c.2166G>A (p.Gln722=)
NM_000287.4(PEX6):c.2167C>G (p.Leu723Val)
NM_000287.4(PEX6):c.2169C>T (p.Leu723=)
NM_000287.4(PEX6):c.216G>T (p.Pro72=) rs2150240570
NM_000287.4(PEX6):c.2171C>T (p.Pro724Leu) rs201270008
NM_000287.4(PEX6):c.2172C>G (p.Pro724=) rs1463523319
NM_000287.4(PEX6):c.2173C>T (p.Leu725=) rs796113440
NM_000287.4(PEX6):c.217C>T (p.Gln73Ter)
NM_000287.4(PEX6):c.2181C>T (p.His727=)
NM_000287.4(PEX6):c.2184T>A (p.Pro728=) rs2114239893
NM_000287.4(PEX6):c.2190A>G (p.Leu730=)
NM_000287.4(PEX6):c.2192T>G (p.Leu731Arg)
NM_000287.4(PEX6):c.2193G>A (p.Leu731=) rs1769805711
NM_000287.4(PEX6):c.2195G>T (p.Ser732Ile)
NM_000287.4(PEX6):c.2196C>G (p.Ser732Arg) rs1485203588
NM_000287.4(PEX6):c.2198T>C (p.Leu733Pro) rs1581760232
NM_000287.4(PEX6):c.21G>A (p.Arg7=)
NM_000287.4(PEX6):c.2202C>A (p.Gly734=) rs2114239852
NM_000287.4(PEX6):c.2203C>T (p.Leu735=) rs2114239848
NM_000287.4(PEX6):c.2208A>G (p.Arg736=) rs1769804754
NM_000287.4(PEX6):c.2211C>T (p.Arg737=) rs1769804334
NM_000287.4(PEX6):c.2214A>T (p.Ser738=) rs1769804133
NM_000287.4(PEX6):c.2224C>T (p.Leu742Phe)
NM_000287.4(PEX6):c.2226C>T (p.Leu742=) rs1769803541
NM_000287.4(PEX6):c.2227del (p.His743fs)
NM_000287.4(PEX6):c.222A>G (p.Leu74=)
NM_000287.4(PEX6):c.2232G>T (p.Gly744=)
NM_000287.4(PEX6):c.2241C>T (p.Gly747=) rs2114239728
NM_000287.4(PEX6):c.2244del (p.Gly749fs)
NM_000287.4(PEX6):c.224T>C (p.Leu75Pro)
NM_000287.4(PEX6):c.2250G>A (p.Lys750=) rs2114239706
NM_000287.4(PEX6):c.2253C>T (p.Thr751=) rs369174722
NM_000287.4(PEX6):c.2261C>T (p.Ala754Val)
NM_000287.4(PEX6):c.2265_2266insCTCCCCAGCCT (p.Ala756fs)
NM_000287.4(PEX6):c.2268A>T (p.Ala756=) rs1769801311
NM_000287.4(PEX6):c.226G>A (p.Val76Ile)
NM_000287.4(PEX6):c.2272G>A (p.Ala758Thr) rs1769800975
NM_000287.4(PEX6):c.2273C>A (p.Ala758Asp)
NM_000287.4(PEX6):c.2276_2277del (p.Thr759fs)
NM_000287.4(PEX6):c.2286C>T (p.Ser762=) rs2114239613
NM_000287.4(PEX6):c.2289T>G (p.Leu763=)
NM_000287.4(PEX6):c.2289del (p.Thr764fs)
NM_000287.4(PEX6):c.2292C>A (p.Thr764=)
NM_000287.4(PEX6):c.2300+10G>A rs2114239578
NM_000287.4(PEX6):c.2300+11G>A
NM_000287.4(PEX6):c.2300+8G>A
NM_000287.4(PEX6):c.2300+9G>A rs1181349199
NM_000287.4(PEX6):c.2301-11C>T
NM_000287.4(PEX6):c.2301-15C>A
NM_000287.4(PEX6):c.2301-15C>T rs267608236
NM_000287.4(PEX6):c.2301-16A>C
NM_000287.4(PEX6):c.2301-20_2301-18del
NM_000287.4(PEX6):c.2301-5C>T rs267608238
NM_000287.4(PEX6):c.2301-5_2301-2del rs748032659
NM_000287.4(PEX6):c.2301-7C>T
NM_000287.4(PEX6):c.2301-8T>C
NM_000287.4(PEX6):c.2301-9C>A rs1769791098
NM_000287.4(PEX6):c.2301-9C>G rs1769791098
NM_000287.4(PEX6):c.2301-9C>T
NM_000287.4(PEX6):c.2301C>T (p.Ser767=)
NM_000287.4(PEX6):c.2302G>A (p.Val768Met)
NM_000287.4(PEX6):c.2304G>A (p.Val768=) rs1387258527
NM_000287.4(PEX6):c.2306A>C (p.Lys769Thr)
NM_000287.4(PEX6):c.2313_2315delinsTGCCCCTCCCT (p.Glu772fs)
NM_000287.4(PEX6):c.2315del (p.Glu772fs)
NM_000287.4(PEX6):c.2316G>T (p.Glu772Asp)
NM_000287.4(PEX6):c.231C>A (p.Ser77Arg) rs1770437263
NM_000287.4(PEX6):c.2325C>T (p.Asn775=) rs2114239277
NM_000287.4(PEX6):c.2327T>C (p.Met776Thr) rs2114239270
NM_000287.4(PEX6):c.2334G>T (p.Val778=)
NM_000287.4(PEX6):c.2343T>C (p.Ser781=) rs1769788025
NM_000287.4(PEX6):c.2350A>G (p.Asn784Asp) rs929525105
NM_000287.4(PEX6):c.2351A>G (p.Asn784Ser) rs1769787466
NM_000287.4(PEX6):c.2352T>C (p.Asn784=) rs2114239219
NM_000287.4(PEX6):c.235G>A (p.Ala79Thr) rs61752141
NM_000287.4(PEX6):c.235G>C (p.Ala79Pro) rs61752141
NM_000287.4(PEX6):c.2361del (p.Val788fs)
NM_000287.4(PEX6):c.2362+10C>G rs755336114
NM_000287.4(PEX6):c.2362+10C>T rs755336114
NM_000287.4(PEX6):c.2362+19G>T
NM_000287.4(PEX6):c.2362+20C>A
NM_000287.4(PEX6):c.2362+7G>A
NM_000287.4(PEX6):c.2362+9_2362+10delinsAA
NM_000287.4(PEX6):c.2363-10C>G rs370221316
NM_000287.4(PEX6):c.2363-10C>T rs370221316
NM_000287.4(PEX6):c.2363-10dup
NM_000287.4(PEX6):c.2363-11T>C rs2114238716
NM_000287.4(PEX6):c.2363-14CT[4]
NM_000287.4(PEX6):c.2363-16C>A
NM_000287.4(PEX6):c.2363-16C>T
NM_000287.4(PEX6):c.2363-2A>C rs1769772582
NM_000287.4(PEX6):c.2363-2A>G
NM_000287.4(PEX6):c.2363-4T>C
NM_000287.4(PEX6):c.2363-5_2363-4del
NM_000287.4(PEX6):c.2363-6C>G rs2114238693
NM_000287.4(PEX6):c.2363-8C>G
NM_000287.4(PEX6):c.2363-8C>T rs1728720291
NM_000287.4(PEX6):c.2364_2365del rs755716911
NM_000287.4(PEX6):c.236C>T (p.Ala79Val)
NM_000287.4(PEX6):c.2370C>T (p.Ala790=) rs2114238658
NM_000287.4(PEX6):c.2379G>A (p.Arg793=) rs1769771037
NM_000287.4(PEX6):c.237_238del (p.Leu80fs) rs1178535907
NM_000287.4(PEX6):c.2392T>C (p.Cys798Arg)
NM_000287.4(PEX6):c.2398_2417delinsT (p.Ile800fs) rs62653602
NM_000287.4(PEX6):c.2399T>C (p.Ile800Thr) rs748244253
NM_000287.4(PEX6):c.2403C>T (p.Phe801=)
NM_000287.4(PEX6):c.2410G>T (p.Glu804Ter)
NM_000287.4(PEX6):c.2419T>C (p.Ser807Pro)
NM_000287.4(PEX6):c.2433C>T (p.Ser811=) rs749497998
NM_000287.4(PEX6):c.2434C>T (p.Arg812Trp) rs61753228
NM_000287.4(PEX6):c.2434del (p.Arg812fs)
NM_000287.4(PEX6):c.2435_2436delinsAA (p.Arg812Gln) rs2114238521
NM_000287.4(PEX6):c.2436G>T (p.Arg812=)
NM_000287.4(PEX6):c.2439G>C (p.Gly813=)
NM_000287.4(PEX6):c.2439del (p.Arg814fs) rs1554126955
NM_000287.4(PEX6):c.2439dup (p.Arg814fs) rs1554126955
NM_000287.4(PEX6):c.2445T>C (p.Ser815=) rs2114238472
NM_000287.4(PEX6):c.2453C>G (p.Ser818Cys)
NM_000287.4(PEX6):c.245G>C (p.Arg82Pro) rs2150240495
NM_000287.4(PEX6):c.2462del (p.Val821fs)
NM_000287.4(PEX6):c.2470del (p.Arg824fs) rs2114238399
NM_000287.4(PEX6):c.2471+11G>A
NM_000287.4(PEX6):c.2471+13G>T
NM_000287.4(PEX6):c.2471+15G>A
NM_000287.4(PEX6):c.2471+1G>A
NM_000287.4(PEX6):c.2471+20T>A
NM_000287.4(PEX6):c.2471+5G>T rs1213308057
NM_000287.4(PEX6):c.2472-10T>G rs2114237782
NM_000287.4(PEX6):c.2472-11C>T
NM_000287.4(PEX6):c.2472-13C>T
NM_000287.4(PEX6):c.2472-16G>A
NM_000287.4(PEX6):c.2472-16G>T
NM_000287.4(PEX6):c.2472-1G>A
NM_000287.4(PEX6):c.2472-2A>G rs267608242
NM_000287.4(PEX6):c.2472-6del
NM_000287.4(PEX6):c.2472-9TC[2]
NM_000287.4(PEX6):c.2476G>A (p.Val826Met) rs1769733515
NM_000287.4(PEX6):c.2476G>T (p.Val826Leu) rs1769733515
NM_000287.4(PEX6):c.2478G>A (p.Val826=) rs1769733339
NM_000287.4(PEX6):c.247C>G (p.Leu83Val) rs1770435941
NM_000287.4(PEX6):c.2482C>T (p.Gln828Ter) rs267608243
NM_000287.4(PEX6):c.2484G>A (p.Gln828=)
NM_000287.4(PEX6):c.2487C>G (p.Leu829=)
NM_000287.4(PEX6):c.2488C>G (p.Leu830Val) rs749533099
NM_000287.4(PEX6):c.2490T>C (p.Leu830=)
NM_000287.4(PEX6):c.249C>G (p.Leu83=)
NM_000287.4(PEX6):c.2503G>T (p.Gly835Trp)
NM_000287.4(PEX6):c.2504G>A (p.Gly835Glu)
NM_000287.4(PEX6):c.2511C>T (p.His837=)
NM_000287.4(PEX6):c.2518C>T (p.Gln840Ter)
NM_000287.4(PEX6):c.2524G>A (p.Val842Met)
NM_000287.4(PEX6):c.2535T>C (p.Ile845=) rs2114237619
NM_000287.4(PEX6):c.254_259dup (p.Ala85_Leu86dup) rs1554128546
NM_000287.4(PEX6):c.2559C>T (p.Leu853=) rs767271773
NM_000287.4(PEX6):c.2560C>T (p.Leu854=) rs2114237541
NM_000287.4(PEX6):c.2563del (p.Asp855fs)
NM_000287.4(PEX6):c.2565C>A (p.Asp855Glu)
NM_000287.4(PEX6):c.2572C>A (p.Leu858Ile) rs1769725500
NM_000287.4(PEX6):c.2573T>C (p.Leu858Pro) rs1769725308
NM_000287.4(PEX6):c.2574T>C (p.Leu858=) rs2114237512
NM_000287.4(PEX6):c.2575C>T (p.Leu859=)
NM_000287.4(PEX6):c.2577G>A (p.Leu859=) rs2114237503
NM_000287.4(PEX6):c.2578C>T (p.Arg860Trp) rs61753230
NM_000287.4(PEX6):c.2579G>C (p.Arg860Pro) rs61753231
NM_000287.4(PEX6):c.2580G>A (p.Arg860=) rs1257737208
NM_000287.4(PEX6):c.2580G>T (p.Arg860=) rs1257737208
NM_000287.4(PEX6):c.2581C>G (p.Pro861Ala)
NM_000287.4(PEX6):c.2584G>C (p.Gly862Arg)
NM_000287.4(PEX6):c.2587A>G (p.Arg863Gly) rs1769723613
NM_000287.4(PEX6):c.2588+13T>G
NM_000287.4(PEX6):c.2588+14dup
NM_000287.4(PEX6):c.2588+15C>T
NM_000287.4(PEX6):c.2588+18C>T
NM_000287.4(PEX6):c.2588+19T>A
NM_000287.4(PEX6):c.2588+8C>G
NM_000287.4(PEX6):c.2588+9C>G
NM_000287.4(PEX6):c.2589-10C>T
NM_000287.4(PEX6):c.2589-11T>G
NM_000287.4(PEX6):c.2589-12A>G
NM_000287.4(PEX6):c.2589-19C>A
NM_000287.4(PEX6):c.2589-1G>A
NM_000287.4(PEX6):c.2589-1G>T rs2114237186
NM_000287.4(PEX6):c.2589-20A>G
NM_000287.4(PEX6):c.2589-4A>T rs759850777
NM_000287.4(PEX6):c.258G>A (p.Leu86=) rs1021122110
NM_000287.4(PEX6):c.2595C>T (p.Asp865=) rs776978889
NM_000287.4(PEX6):c.2601G>A (p.Leu867=)
NM_000287.4(PEX6):c.2601G>T (p.Leu867=) rs1769712635
NM_000287.4(PEX6):c.2610G>T (p.Val870=) rs1769711405
NM_000287.4(PEX6):c.2616A>T (p.Ala872=)
NM_000287.4(PEX6):c.2619T>C (p.Asn873=) rs886043369
NM_000287.4(PEX6):c.261C>T (p.Gly87=)
NM_000287.4(PEX6):c.2627G>A (p.Arg876Gln)
NM_000287.4(PEX6):c.2631C>A (p.Ala877=)
NM_000287.4(PEX6):c.2634C>T (p.Ser878=) rs965913951
NM_000287.4(PEX6):c.2635C>G (p.Gln879Glu) rs1769709206
NM_000287.4(PEX6):c.2640A>G (p.Leu880=) rs2114237030
NM_000287.4(PEX6):c.2649A>C (p.Leu883=)
NM_000287.4(PEX6):c.2649A>G (p.Leu883=) rs752553005
NM_000287.4(PEX6):c.2658C>A (p.Ile886=) rs2114236956
NM_000287.4(PEX6):c.2663G>C (p.Arg888Pro) rs267608247
NM_000287.4(PEX6):c.2663G>T (p.Arg888Leu) rs267608247
NM_000287.4(PEX6):c.2665A>G (p.Lys889Glu)
NM_000287.4(PEX6):c.2666+13A>G rs2114236890
NM_000287.4(PEX6):c.2666+14G>A
NM_000287.4(PEX6):c.2666+19A>C
NM_000287.4(PEX6):c.2666+1G>T rs2114236937
NM_000287.4(PEX6):c.2666+5G>A rs1332626624
NM_000287.4(PEX6):c.2666+8C>G
NM_000287.4(PEX6):c.2666+8C>T rs1769705093
NM_000287.4(PEX6):c.2666+8_2666+9del
NM_000287.4(PEX6):c.2667-10C>A rs1554126803
NM_000287.4(PEX6):c.2667-12A>G
NM_000287.4(PEX6):c.2667-16C>T
NM_000287.4(PEX6):c.2667-2A>C rs267608249
NM_000287.4(PEX6):c.2667-2A>G rs267608249
NM_000287.4(PEX6):c.2667-6C>T
NM_000287.4(PEX6):c.2667-9C>T rs2114236564
NM_000287.4(PEX6):c.2668T>C (p.Phe890Leu) rs2114236546
NM_000287.4(PEX6):c.267G>C (p.Gly89=) rs2150240475
NM_000287.4(PEX6):c.2691C>T (p.Ser897=)
NM_000287.4(PEX6):c.2692C>T (p.Leu898=)
NM_000287.4(PEX6):c.2692del (p.Leu898fs) rs1554126798
NM_000287.4(PEX6):c.2694G>A (p.Leu898=) rs1581757319
NM_000287.4(PEX6):c.2697A>G (p.Val899=) rs892510772
NM_000287.4(PEX6):c.2702T>C (p.Val901Ala) rs1209841271
NM_000287.4(PEX6):c.2703G>A (p.Val901=)
NM_000287.4(PEX6):c.2709T>C (p.Asp903=)
NM_000287.4(PEX6):c.270C>G (p.Ala90=) rs760748453
NM_000287.4(PEX6):c.270C>T (p.Ala90=)
NM_000287.4(PEX6):c.2718T>C (p.Pro906=) rs2114236423
NM_000287.4(PEX6):c.2722C>T (p.Gln908Ter) rs2114236416
NM_000287.4(PEX6):c.2724G>A (p.Gln908=) rs2114236409
NM_000287.4(PEX6):c.272G>C (p.Trp91Ser)
NM_000287.4(PEX6):c.2734G>T (p.Ala912Ser)
NM_000287.4(PEX6):c.2753G>A (p.Cys918Tyr) rs1418426929
NM_000287.4(PEX6):c.2754C>T (p.Cys918=)
NM_000287.4(PEX6):c.2754_2758del (p.Cys918_Asp920delinsTer) rs2114236281
NM_000287.4(PEX6):c.2757T>C (p.Ser919=) rs747906867
NM_000287.4(PEX6):c.275_280dup (p.Val92_Arg93dup) rs61752142
NM_000287.4(PEX6):c.2763T>A (p.Ala921=)
NM_000287.4(PEX6):c.2764_2765del (p.Met922fs) rs1554126781
NM_000287.4(PEX6):c.2768C>T (p.Thr923Ile)
NM_000287.4(PEX6):c.276G>A (p.Val92=) rs2150240428
NM_000287.4(PEX6):c.2773_2774delinsCT (p.Ala925Leu) rs2114236221
NM_000287.4(PEX6):c.2778C>G (p.Leu926=)
NM_000287.4(PEX6):c.2778C>T (p.Leu926=)
NM_000287.4(PEX6):c.277CGGGCG[1] (p.93RA[1]) rs61753208
NM_000287.4(PEX6):c.2782C>T (p.Arg928Cys)
NM_000287.4(PEX6):c.2785A>G (p.Arg929Gly) rs1232075600
NM_000287.4(PEX6):c.2790T>G (p.Val930=)
NM_000287.4(PEX6):c.2797C>T (p.Leu933=)
NM_000287.4(PEX6):c.279G>A (p.Arg93=) rs2150240420
NM_000287.4(PEX6):c.2806+15G>C
NM_000287.4(PEX6):c.2806+6C>T
NM_000287.4(PEX6):c.2806+9C>A rs2114236111
NM_000287.4(PEX6):c.2807-14C>T
NM_000287.4(PEX6):c.2807-15_2807-14delinsAT rs2114235483
NM_000287.4(PEX6):c.2807-16A>G
NM_000287.4(PEX6):c.2807-17C>A
NM_000287.4(PEX6):c.2807-17C>G
NM_000287.4(PEX6):c.2807-19C>T
NM_000287.4(PEX6):c.2807-4C>G rs2114235455
NM_000287.4(PEX6):c.2807-5T>G
NM_000287.4(PEX6):c.2807-8A>G rs2114235473
NM_000287.4(PEX6):c.2809C>T (p.Leu937=)
NM_000287.4(PEX6):c.2811G>A (p.Leu937=)
NM_000287.4(PEX6):c.2811G>T (p.Leu937=) rs1458911417
NM_000287.4(PEX6):c.2814_2816delinsACA (p.Pro939Gln)
NM_000287.4(PEX6):c.2814_2816delinsAGA (p.Pro939Glu)
NM_000287.4(PEX6):c.2816C>G (p.Pro939Arg) rs1129187
NM_000287.4(PEX6):c.281C>A (p.Ala94Glu) rs61752143
NM_000287.4(PEX6):c.2826A>G (p.Ser942=) rs2114235359
NM_000287.4(PEX6):c.2829A>C (p.Ala943=)
NM_000287.4(PEX6):c.282G>A (p.Ala94=)
NM_000287.4(PEX6):c.2830C>A (p.Leu944Met) rs2063704023
NM_000287.4(PEX6):c.2838C>T (p.Leu946=) rs1561818692
NM_000287.4(PEX6):c.2842A>G (p.Met948Val)
NM_000287.4(PEX6):c.2845G>A (p.Glu949Lys)
NM_000287.4(PEX6):c.2847G>A (p.Glu949=)
NM_000287.4(PEX6):c.284G>A (p.Arg95Gln)
NM_000287.4(PEX6):c.284G>C (p.Arg95Pro) rs2150240407
NM_000287.4(PEX6):c.2850C>G (p.Asp950Glu) rs1251800022
NM_000287.4(PEX6):c.2850C>T (p.Asp950=) rs1251800022
NM_000287.4(PEX6):c.2856G>A (p.Leu952=)
NM_000287.4(PEX6):c.2861C>T (p.Ala954Val)
NM_000287.4(PEX6):c.2862T>G (p.Ala954=)
NM_000287.4(PEX6):c.2865C>T (p.Ala955=) rs1407928755
NM_000287.4(PEX6):c.2866G>T (p.Ala956Ser) rs774145857
NM_000287.4(PEX6):c.286_289del (p.Ala96fs)
NM_000287.4(PEX6):c.2871G>A (p.Arg957=) rs1370470867
NM_000287.4(PEX6):c.2873T>G (p.Leu958Arg) rs2114235199
NM_000287.4(PEX6):c.2874G>C (p.Leu958=) rs769653284
NM_000287.4(PEX6):c.2882C>T (p.Ser961Leu) rs886043724
NM_000287.4(PEX6):c.2883A>G (p.Ser961=)
NM_000287.4(PEX6):c.288G>T (p.Ala96=) rs554104839
NM_000287.4(PEX6):c.2892G>A (p.Glu964=) rs1561818538
NM_000287.4(PEX6):c.2893C>G (p.Gln965Glu)
NM_000287.4(PEX6):c.2895G>A (p.Gln965=)
NM_000287.4(PEX6):c.2901G>A (p.Leu967=)
NM_000287.4(PEX6):c.2904C>T (p.Leu968=)
NM_000287.4(PEX6):c.2905C>T (p.Arg969Trp)
NM_000287.4(PEX6):c.2906G>T (p.Arg969Leu)
NM_000287.4(PEX6):c.2907G>A (p.Arg969=) rs145243129
NM_000287.4(PEX6):c.2907G>C (p.Arg969=) rs145243129
NM_000287.4(PEX6):c.2908T>C (p.Tyr970His)
NM_000287.4(PEX6):c.2910C>T (p.Tyr970=) rs1448846802
NM_000287.4(PEX6):c.2913G>C (p.Lys971Asn)
NM_000287.4(PEX6):c.2915G>T (p.Arg972Leu) rs751058292
NM_000287.4(PEX6):c.2921A>C (p.Gln974Pro) rs1211978587
NM_000287.4(PEX6):c.2938T>A (p.Cys980Ser)
NM_000287.4(PEX6):c.2938T>G (p.Cys980Gly) rs1427401725
NM_000287.4(PEX6):c.2943G>A (p.Ter981=) rs747103168
NM_000287.4(PEX6):c.294G>A (p.Arg98=)
NM_000287.4(PEX6):c.295C>A (p.Arg99=) rs772383329
NM_000287.4(PEX6):c.297G>A (p.Arg99=) rs1217985540
NM_000287.4(PEX6):c.2T>C (p.Met1Thr) rs1554128597
NM_000287.4(PEX6):c.2T>G (p.Met1Arg) rs1554128597
NM_000287.4(PEX6):c.300C>G (p.Pro100=)
NM_000287.4(PEX6):c.300C>T (p.Pro100=) rs1581779515
NM_000287.4(PEX6):c.302C>G (p.Pro101Arg) rs774813175
NM_000287.4(PEX6):c.302C>T (p.Pro101Leu)
NM_000287.4(PEX6):c.306G>C (p.Ala102=) rs727504083
NM_000287.4(PEX6):c.30G>A (p.Glu10=) rs1372206461
NM_000287.4(PEX6):c.311del (p.Gly104fs) rs61753209
NM_000287.4(PEX6):c.313T>C (p.Trp105Arg)
NM_000287.4(PEX6):c.315G>A (p.Trp105Ter)
NM_000287.4(PEX6):c.316G>A (p.Ala106Thr) rs2150240338
NM_000287.4(PEX6):c.317C>T (p.Ala106Val)
NM_000287.4(PEX6):c.318A>C (p.Ala106=) rs1581779470
NM_000287.4(PEX6):c.321G>A (p.Leu107=)
NM_000287.4(PEX6):c.32C>T (p.Pro11Leu) rs2150240912
NM_000287.4(PEX6):c.330C>T (p.Thr110=)
NM_000287.4(PEX6):c.333G>C (p.Ser111=)
NM_000287.4(PEX6):c.334C>T (p.Leu112=) rs756950827
NM_000287.4(PEX6):c.336G>A (p.Leu112=)
NM_000287.4(PEX6):c.336G>T (p.Leu112=) rs1194598013
NM_000287.4(PEX6):c.337G>A (p.Gly113Arg)
NM_000287.4(PEX6):c.339G>T (p.Gly113=) rs1770429617
NM_000287.4(PEX6):c.33C>T (p.Pro11=)
NM_000287.4(PEX6):c.346C>T (p.Leu116Phe) rs1770429515
NM_000287.4(PEX6):c.352C>T (p.Pro118Ser)
NM_000287.4(PEX6):c.357A>T (p.Arg119=)
NM_000287.4(PEX6):c.35T>C (p.Phe12Ser) rs61752139
NM_000287.4(PEX6):c.363G>A (p.Gly121=) rs1282410534
NM_000287.4(PEX6):c.366G>C (p.Pro122=) rs2150240248
NM_000287.4(PEX6):c.369G>A (p.Leu123=) rs2150240235
NM_000287.4(PEX6):c.369G>C (p.Leu123=) rs2150240235
NM_000287.4(PEX6):c.36T>C (p.Phe12=)
NM_000287.4(PEX6):c.370C>T (p.Leu124=) rs2150240232
NM_000287.4(PEX6):c.372G>A (p.Leu124=)
NM_000287.4(PEX6):c.373G>T (p.Val125Leu) rs1383547974
NM_000287.4(PEX6):c.375G>T (p.Val125=) rs765259967
NM_000287.4(PEX6):c.37C>A (p.Pro13Thr)
NM_000287.4(PEX6):c.381C>G (p.Arg127=) rs1377750772
NM_000287.4(PEX6):c.385_388del (p.Glu129fs) rs1554128501
NM_000287.4(PEX6):c.392_395del (p.Leu131fs)
NM_000287.4(PEX6):c.393C>T (p.Leu131=)
NM_000287.4(PEX6):c.396A>C (p.Pro132=)
NM_000287.4(PEX6):c.399G>C (p.Val133=) rs9462858
NM_000287.4(PEX6):c.39G>C (p.Pro13=)
NM_000287.4(PEX6):c.402del (p.Gly135fs)
NM_000287.4(PEX6):c.403G>A (p.Gly135Arg)
NM_000287.4(PEX6):c.403G>C (p.Gly135Arg)
NM_000287.4(PEX6):c.405A>G (p.Gly135=) rs2150240134
NM_000287.4(PEX6):c.406delinsAT (p.Pro136fs) rs1554128488
NM_000287.4(PEX6):c.410G>C (p.Arg137Pro) rs1254025750
NM_000287.4(PEX6):c.411G>C (p.Arg137=)
NM_000287.4(PEX6):c.423G>C (p.Thr141=)
NM_000287.4(PEX6):c.424C>T (p.Arg142Trp)
NM_000287.4(PEX6):c.427_485del (p.Pro143fs)
NM_000287.4(PEX6):c.42C>A (p.Thr14=) rs1375938727
NM_000287.4(PEX6):c.42C>T (p.Thr14=) rs1375938727
NM_000287.4(PEX6):c.42_43dup (p.Glu15fs) rs1554128586
NM_000287.4(PEX6):c.433T>C (p.Leu145=)
NM_000287.4(PEX6):c.441G>A (p.Gly147=) rs1462833567
NM_000287.4(PEX6):c.444G>C (p.Leu148=) rs1022934488
NM_000287.4(PEX6):c.444G>T (p.Leu148=) rs1022934488
NM_000287.4(PEX6):c.445C>T (p.Leu149=) rs2150240046
NM_000287.4(PEX6):c.446T>A (p.Leu149Gln) rs1561830810
NM_000287.4(PEX6):c.44A>T (p.Glu15Val)
NM_000287.4(PEX6):c.453A>G (p.Pro151=)
NM_000287.4(PEX6):c.459T>C (p.Thr153=)
NM_000287.4(PEX6):c.462del (p.Leu155fs) rs1554128476
NM_000287.4(PEX6):c.463C>T (p.Leu155=)
NM_000287.4(PEX6):c.465G>T (p.Leu155=)
NM_000287.4(PEX6):c.469G>A (p.Val157Met) rs777547423
NM_000287.4(PEX6):c.473C>G (p.Thr158Ser)
NM_000287.4(PEX6):c.474T>G (p.Thr158=)
NM_000287.4(PEX6):c.475G>C (p.Glu159Gln) rs991248029
NM_000287.4(PEX6):c.480C>T (p.Leu160=)
NM_000287.4(PEX6):c.481C>T (p.Arg161Cys)
NM_000287.4(PEX6):c.483C>A (p.Arg161=) rs772034979
NM_000287.4(PEX6):c.485G>C (p.Gly162Ala)
NM_000287.4(PEX6):c.486G>A (p.Gly162=)
NM_000287.4(PEX6):c.490G>A (p.Ala164Thr)
NM_000287.4(PEX6):c.494G>A (p.Arg165Lys)
NM_000287.4(PEX6):c.496C>A (p.Leu166Met) rs1770417803
NM_000287.4(PEX6):c.498G>C (p.Leu166=)
NM_000287.4(PEX6):c.49C>A (p.Pro17Thr) rs918969564
NM_000287.4(PEX6):c.4G>A (p.Ala2Thr) rs748585216
NM_000287.4(PEX6):c.503_504del (p.Pro168fs)
NM_000287.4(PEX6):c.506_507del (p.Glu169fs) rs1554128461
NM_000287.4(PEX6):c.508T>C (p.Ser170Pro) rs1233039273
NM_000287.4(PEX6):c.510dup (p.Gly171fs) rs1491384052
NM_000287.4(PEX6):c.514del (p.Asp172fs)
NM_000287.4(PEX6):c.514dup (p.Asp172fs) rs2150239907
NM_000287.4(PEX6):c.516C>T (p.Asp172=) rs2150239905
NM_000287.4(PEX6):c.516CAG[1] (p.Ser174del) rs1770416024
NM_000287.4(PEX6):c.517A>G (p.Ser173Gly)
NM_000287.4(PEX6):c.519C>T (p.Ser173=)
NM_000287.4(PEX6):c.524G>T (p.Arg175Leu)
NM_000287.4(PEX6):c.528C>T (p.Pro176=) rs2150239878
NM_000287.4(PEX6):c.52C>T (p.Pro18Ser) rs1770447100
NM_000287.4(PEX6):c.530del (p.Pro177fs)
NM_000287.4(PEX6):c.531del (p.Pro179fs) rs2150239870
NM_000287.4(PEX6):c.532C>T (p.Pro178Ser) rs1331493124
NM_000287.4(PEX6):c.534C>G (p.Pro178=) rs899897123
NM_000287.4(PEX6):c.53C>T (p.Pro18Leu)
NM_000287.4(PEX6):c.540C>T (p.Pro180=)
NM_000287.4(PEX6):c.541G>A (p.Val181Met)
NM_000287.4(PEX6):c.541GTG[1] (p.Val182del) rs1554128449
NM_000287.4(PEX6):c.544G>A (p.Val182Met)
NM_000287.4(PEX6):c.548CCT[1] (p.Ser184del) rs1554128446
NM_000287.4(PEX6):c.549C>T (p.Ser183=) rs2150239811
NM_000287.4(PEX6):c.552C>T (p.Ser184=)
NM_000287.4(PEX6):c.555T>C (p.Phe185=) rs2150239797
NM_000287.4(PEX6):c.558G>C (p.Ala186=) rs1443640798
NM_000287.4(PEX6):c.559G>A (p.Val187Ile) rs2150239788
NM_000287.4(PEX6):c.55T>C (p.Leu19=)
NM_000287.4(PEX6):c.564T>G (p.Ser188=) rs569094067
NM_000287.4(PEX6):c.568A>G (p.Thr190Ala)
NM_000287.4(PEX6):c.573G>A (p.Val191=) rs2150239764
NM_000287.4(PEX6):c.573_882+237delinsTGGTCA
NM_000287.4(PEX6):c.586G>A (p.Gly196Arg) rs1770412754
NM_000287.4(PEX6):c.586G>C (p.Gly196Arg) rs1770412754
NM_000287.4(PEX6):c.588A>G (p.Gly196=) rs1581778763
NM_000287.4(PEX6):c.592C>G (p.Leu198Val) rs1770412382
NM_000287.4(PEX6):c.592C>T (p.Leu198=)
NM_000287.4(PEX6):c.594G>A (p.Leu198=)
NM_000287.4(PEX6):c.594G>T (p.Leu198=)
NM_000287.4(PEX6):c.599G>A (p.Gly200Glu)
NM_000287.4(PEX6):c.600G>T (p.Gly200=)
NM_000287.4(PEX6):c.600del (p.Thr201fs)
NM_000287.4(PEX6):c.603T>G (p.Thr201=)
NM_000287.4(PEX6):c.612A>C (p.Ser204=)
NM_000287.4(PEX6):c.612A>G (p.Ser204=) rs886043877
NM_000287.4(PEX6):c.614T>A (p.Leu205Gln)
NM_000287.4(PEX6):c.614T>C (p.Leu205Pro) rs1379179938
NM_000287.4(PEX6):c.618G>C (p.Gly206=) rs200477648
NM_000287.4(PEX6):c.621_882+2del rs1554128347
NM_000287.4(PEX6):c.624C>T (p.Ser208=) rs768283442
NM_000287.4(PEX6):c.625C>A (p.Arg209=)
NM_000287.4(PEX6):c.630C>T (p.Ser210=)
NM_000287.4(PEX6):c.630del (p.Cys211fs) rs2150239689
NM_000287.4(PEX6):c.636C>T (p.Leu212=)
NM_000287.4(PEX6):c.63G>T (p.Val21=) rs2150240833
NM_000287.4(PEX6):c.643C>G (p.Leu215Val) rs865933425
NM_000287.4(PEX6):c.645T>C (p.Leu215=) rs2150239655
NM_000287.4(PEX6):c.654C>G (p.Phe218Leu) rs886037779
NM_000287.4(PEX6):c.655C>T (p.Gln219Ter)
NM_000287.4(PEX6):c.655del (p.Gln219fs)
NM_000287.4(PEX6):c.656del (p.Gln219fs) rs267608202
NM_000287.4(PEX6):c.658G>A (p.Gly220Ser)
NM_000287.4(PEX6):c.658G>C (p.Gly220Arg)
NM_000287.4(PEX6):c.659G>T (p.Gly220Val) rs267608203
NM_000287.4(PEX6):c.660C>A (p.Gly220=)
NM_000287.4(PEX6):c.660C>T (p.Gly220=)
NM_000287.4(PEX6):c.667G>A (p.Val223Met)
NM_000287.4(PEX6):c.668dup (p.Trp224fs)
NM_000287.4(PEX6):c.669G>C (p.Val223=) rs899965642
NM_000287.4(PEX6):c.669G>T (p.Val223=)
NM_000287.4(PEX6):c.671G>A (p.Trp224Ter)
NM_000287.4(PEX6):c.673G>A (p.Val225Met) rs1770406575
NM_000287.4(PEX6):c.675G>C (p.Val225=) rs2150239609
NM_000287.4(PEX6):c.677C>A (p.Ala226Asp) rs2150239605
NM_000287.4(PEX6):c.678C>G (p.Ala226=)
NM_000287.4(PEX6):c.67C>G (p.Leu23Val)
NM_000287.4(PEX6):c.67C>T (p.Leu23=)
NM_000287.4(PEX6):c.681G>A (p.Gln227=) rs1770406319
NM_000287.4(PEX6):c.683C>G (p.Ala228Gly)
NM_000287.4(PEX6):c.684C>G (p.Ala228=)
NM_000287.4(PEX6):c.687A>G (p.Arg229=)
NM_000287.4(PEX6):c.689_690del (p.Glu230fs) rs398123305
NM_000287.4(PEX6):c.689_690dup (p.Ser232fs) rs398123305
NM_000287.4(PEX6):c.692C>G (p.Ser231Ter)
NM_000287.4(PEX6):c.695C>T (p.Ser232Leu)
NM_000287.4(PEX6):c.696G>A (p.Ser232=) rs2150239568
NM_000287.4(PEX6):c.697A>C (p.Asn233His)
NM_000287.4(PEX6):c.697A>G (p.Asn233Asp) rs374452739
NM_000287.4(PEX6):c.698del (p.Asn233fs)
NM_000287.4(PEX6):c.69G>A (p.Leu23=)
NM_000287.4(PEX6):c.6G>A (p.Ala2=) rs1406727123
NM_000287.4(PEX6):c.701C>G (p.Thr234Ser)
NM_000287.4(PEX6):c.701C>T (p.Thr234Ile)
NM_000287.4(PEX6):c.703T>C (p.Ser235Pro)
NM_000287.4(PEX6):c.706C>T (p.Gln236Ter) rs779526175
NM_000287.4(PEX6):c.709C>T (p.Pro237Ser)
NM_000287.4(PEX6):c.711G>A (p.Pro237=)
NM_000287.4(PEX6):c.711G>T (p.Pro237=)
NM_000287.4(PEX6):c.714C>T (p.His238=)
NM_000287.4(PEX6):c.718G>A (p.Ala240Thr) rs886061412
NM_000287.4(PEX6):c.720T>A (p.Ala240=)
NM_000287.4(PEX6):c.723G>A (p.Arg241=)
NM_000287.4(PEX6):c.724G>T (p.Val242Leu) rs368915893
NM_000287.4(PEX6):c.727C>T (p.Gln243Ter) rs61753215
NM_000287.4(PEX6):c.72A>C (p.Pro24=) rs751357810
NM_000287.4(PEX6):c.72A>G (p.Pro24=) rs751357810
NM_000287.4(PEX6):c.733C>T (p.Leu245=) rs2150239501
NM_000287.4(PEX6):c.737A>T (p.Glu246Val) rs1770401105
NM_000287.4(PEX6):c.738A>G (p.Glu246=)
NM_000287.4(PEX6):c.738_741del (p.Glu246fs) rs2150239487
NM_000287.4(PEX6):c.740dup (p.Arg248fs)
NM_000287.4(PEX6):c.741T>G (p.Pro247=) rs2150239485
NM_000287.4(PEX6):c.744C>T (p.Arg248=)
NM_000287.4(PEX6):c.746G>A (p.Trp249Ter)
NM_000287.4(PEX6):c.747G>A (p.Trp249Ter) rs1770400284
NM_000287.4(PEX6):c.749A>G (p.Asp250Gly)
NM_000287.4(PEX6):c.750C>T (p.Asp250=) rs2150239454
NM_000287.4(PEX6):c.751C>G (p.Leu251Val) rs769332435
NM_000287.4(PEX6):c.751C>T (p.Leu251Phe)
NM_000287.4(PEX6):c.753C>A (p.Leu251=) rs898341197
NM_000287.4(PEX6):c.754T>A (p.Ser252Thr)
NM_000287.4(PEX6):c.755_756del (p.Leu251_Ser252insTer)
NM_000287.4(PEX6):c.756T>C (p.Ser252=)
NM_000287.4(PEX6):c.763C>T (p.Leu255=)
NM_000287.4(PEX6):c.76G>C (p.Gly26Arg) rs1268867658
NM_000287.4(PEX6):c.770C>A (p.Pro257His)
NM_000287.4(PEX6):c.771C>A (p.Pro257=)
NM_000287.4(PEX6):c.774C>T (p.Gly258=)
NM_000287.4(PEX6):c.776C>T (p.Ser259Phe) rs201329563
NM_000287.4(PEX6):c.780_782dup (p.Pro261dup) rs1770395486
NM_000287.4(PEX6):c.783G>A (p.Pro261=) rs765629238
NM_000287.4(PEX6):c.784C>T (p.Leu262=) rs2150239392
NM_000287.4(PEX6):c.78_79delinsAA (p.Gly27Ser)
NM_000287.4(PEX6):c.792G>A (p.Glu264=)
NM_000287.4(PEX6):c.795C>A (p.Pro265=)
NM_000287.4(PEX6):c.795C>T (p.Pro265=)
NM_000287.4(PEX6):c.798C>T (p.Leu266=) rs199536286
NM_000287.4(PEX6):c.801T>A (p.Ala267=) rs2150239377
NM_000287.4(PEX6):c.802_815del (p.Asp268fs) rs63749004
NM_000287.4(PEX6):c.80G>C (p.Gly27Ala) rs983060034
NM_000287.4(PEX6):c.812C>T (p.Ala271Val)
NM_000287.4(PEX6):c.813G>A (p.Ala271=) rs35503676
NM_000287.4(PEX6):c.813G>C (p.Ala271=) rs35503676
NM_000287.4(PEX6):c.814_817dup (p.Val273fs) rs367543282
NM_000287.4(PEX6):c.817G>C (p.Val273Leu) rs1770393206
NM_000287.4(PEX6):c.819C>G (p.Val273=) rs748814053
NM_000287.4(PEX6):c.819C>T (p.Val273=) rs748814053
NM_000287.4(PEX6):c.822T>G (p.Pro274=) rs2150239341
NM_000287.4(PEX6):c.824C>G (p.Ala275Gly)
NM_000287.4(PEX6):c.825C>A (p.Ala275=) rs1581778079
NM_000287.4(PEX6):c.828T>C (p.Thr276=)
NM_000287.4(PEX6):c.829T>A (p.Leu277Met) rs1198487899
NM_000287.4(PEX6):c.829T>C (p.Leu277=) rs1198487899
NM_000287.4(PEX6):c.831_834del (p.Leu277fs)
NM_000287.4(PEX6):c.839A>G (p.Asn280Ser)
NM_000287.4(PEX6):c.83C>G (p.Pro28Arg)
NM_000287.4(PEX6):c.846C>T (p.Gly282=) rs1219108908
NM_000287.4(PEX6):c.853C>A (p.Pro285Thr) rs61753220
NM_000287.4(PEX6):c.855C>A (p.Pro285=) rs757897959
NM_000287.4(PEX6):c.855C>G (p.Pro285=)
NM_000287.4(PEX6):c.855C>T (p.Pro285=) rs757897959
NM_000287.4(PEX6):c.856C>G (p.Leu286Val) rs2150239282
NM_000287.4(PEX6):c.856del (p.Leu286fs) rs267608205
NM_000287.4(PEX6):c.866G>A (p.Gly289Glu)
NM_000287.4(PEX6):c.867A>G (p.Gly289=)
NM_000287.4(PEX6):c.872_873del (p.Leu291fs)
NM_000287.4(PEX6):c.873C>T (p.Leu291=) rs754432833
NM_000287.4(PEX6):c.87G>A (p.Trp29Ter)
NM_000287.4(PEX6):c.882+14C>G rs2150239216
NM_000287.4(PEX6):c.882+15T>A
NM_000287.4(PEX6):c.882+15del
NM_000287.4(PEX6):c.882+15dup rs2150239214
NM_000287.4(PEX6):c.882+16G>A
NM_000287.4(PEX6):c.882+17G>A rs1770387850
NM_000287.4(PEX6):c.882+18G>A
NM_000287.4(PEX6):c.882+18G>T
NM_000287.4(PEX6):c.882+1G>A rs267608207
NM_000287.4(PEX6):c.882+4G>A rs756846884
NM_000287.4(PEX6):c.882+5G>A rs1770388962
NM_000287.4(PEX6):c.883-13A>G
NM_000287.4(PEX6):c.883-14T>G
NM_000287.4(PEX6):c.883-15T>C
NM_000287.4(PEX6):c.883-16G>A
NM_000287.4(PEX6):c.883-16G>T
NM_000287.4(PEX6):c.883-19G>A
NM_000287.4(PEX6):c.883-19G>C
NM_000287.4(PEX6):c.883-19G>T
NM_000287.4(PEX6):c.883-2A>G
NM_000287.4(PEX6):c.883-5A>G rs1770231417
NM_000287.4(PEX6):c.883-6T>C rs2150236212
NM_000287.4(PEX6):c.883-6_887del
NM_000287.4(PEX6):c.885G>A (p.Arg295=)
NM_000287.4(PEX6):c.888C>T (p.Tyr296=)
NM_000287.4(PEX6):c.890T>A (p.Leu297Ter)
NM_000287.4(PEX6):c.891G>A (p.Leu297=) rs370656546
NM_000287.4(PEX6):c.896G>A (p.Gly299Asp) rs548459114
NM_000287.4(PEX6):c.896del (p.Gly299fs)
NM_000287.4(PEX6):c.899C>T (p.Ser300Phe)
NM_000287.4(PEX6):c.906C>T (p.Ala302=) rs1770229856
NM_000287.4(PEX6):c.909del (p.Glu304fs)
NM_000287.4(PEX6):c.912A>G (p.Glu304=) rs2150236157
NM_000287.4(PEX6):c.914_923del (p.Asp305fs) rs1364614470
NM_000287.4(PEX6):c.915C>G (p.Asp305Glu)
NM_000287.4(PEX6):c.916_919del (p.Lys306fs) rs2150236148
NM_000287.4(PEX6):c.921A>C (p.Gly307=) rs1770229227
NM_000287.4(PEX6):c.924C>T (p.Ser308=)
NM_000287.4(PEX6):c.927C>T (p.Cys309=) rs1770228479
NM_000287.4(PEX6):c.929C>T (p.Ser310Leu) rs2150236110
NM_000287.4(PEX6):c.933G>A (p.Leu311=) rs749452099
NM_000287.4(PEX6):c.936G>C (p.Leu312=)
NM_000287.4(PEX6):c.937C>T (p.Pro313Ser)
NM_000287.4(PEX6):c.941G>T (p.Gly314Val) rs746415021
NM_000287.4(PEX6):c.945T>C (p.Pro315=) rs2150236089
NM_000287.4(PEX6):c.948A>T (p.Pro316=) rs781704566
NM_000287.4(PEX6):c.953C>G (p.Ala318Gly) rs200600289
NM_000287.4(PEX6):c.954del (p.Arg319fs)
NM_000287.4(PEX6):c.955A>C (p.Arg319=) rs2150236072
NM_000287.4(PEX6):c.957A>G (p.Arg319=)
NM_000287.4(PEX6):c.959_960del (p.Glu320fs)
NM_000287.4(PEX6):c.966C>T (p.His322=) rs752190220
NM_000287.4(PEX6):c.967A>G (p.Ile323Val)
NM_000287.4(PEX6):c.969C>T (p.Ile323=) rs143001881
NM_000287.4(PEX6):c.96G>A (p.Ala32=) rs1409096419
NM_000287.4(PEX6):c.975T>C (p.Ile325=) rs2150236042
NM_000287.4(PEX6):c.988C>T (p.His330Tyr) rs1561827871
NM_000287.4(PEX6):c.993C>A (p.Tyr331Ter)
NM_000287.4(PEX6):c.993C>T (p.Tyr331=) rs896144215
NM_000287.4(PEX6):c.994A>G (p.Ser332Gly)
NM_000287.4(PEX6):c.998C>G (p.Thr333Ser)
NM_000287.4(PEX6):c.999T>C (p.Thr333=) rs2150236010

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