ClinVar Miner

List of variants reported as uncertain significance for peroxisomal disease

Included ClinVar conditions (82):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5387
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HGVS dbSNP gnomAD frequency
NM_000030.3(AGXT):c.777-44A>G rs12464426 0.79262
NM_000030.3(AGXT):c.*289A>C rs4344931 0.74589
NM_000030.3(AGXT):c.846+52G>A rs12695032 0.43208
NM_000030.3(AGXT):c.777-45C>T rs12478859 0.32606
NM_000030.3(AGXT):c.*41C>A rs4273214 0.30802
NM_000030.3(AGXT):c.943-117C>T rs10199038 0.30790
NM_000030.3(AGXT):c.524+91C>T rs10196315 0.29513
NM_000030.3(AGXT):c.1020A>G (p.Ile340Met) rs4426527 0.15412
NM_000030.3(AGXT):c.264C>T (p.Ala88=) rs35698882 0.15328
NM_000030.3(AGXT):c.680+17C>T rs11693280 0.14843
NM_000030.3(AGXT):c.358+13C>T rs34995778 0.14826
NM_000030.3(AGXT):c.654G>A (p.Ser218=) rs33958047 0.12652
NM_003659.4(AGPS):c.*1866_*1867del rs761041008 0.11055
NM_000030.3(AGXT):c.883G>A (p.Ala295Thr) rs13408961 0.02475
NM_000030.3(AGXT):c.65A>G (p.Asn22Ser) rs34885252 0.02454
NM_001127649.3(PEX26):c.*1627G>T rs1056492732 0.01991
NM_000030.3(AGXT):c.705G>A (p.Thr235=) rs35977912 0.01476
NM_000030.3(AGXT):c.681-94G>A rs141154272 0.01343
NM_015294.6(TRIM37):c.*977del rs112918162 0.01009
NM_000030.3(AGXT):c.26C>A (p.Thr9Asn) rs115014558 0.00719
NM_006214.4(PHYH):c.734G>A (p.Arg245Gln) rs62619919 0.00690
NM_001127649.3(PEX26):c.130C>T (p.Leu44Phe) rs150895887 0.00683
NM_002617.4(PEX10):c.-52_-51del rs570192538 0.00605
NM_003659.4(AGPS):c.*3971A>G rs150179488 0.00605
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg) rs142645936 0.00585
NM_003630.3(PEX3):c.*958T>C rs41285019 0.00578
NM_001351132.2(PEX5):c.*81A>C rs183460108 0.00529
NM_003630.3(PEX3):c.*220G>A rs117247312 0.00495
NM_000030.3(AGXT):c.166-14C>T rs180177176 0.00486
NM_003659.4(AGPS):c.*1884A>G rs886055190 0.00467
NM_004565.3(PEX14):c.795A>G (p.Ser265=) rs41274484 0.00451
NM_002617.4(PEX10):c.*686C>G rs41310349 0.00448
NM_002618.4(PEX13):c.*2356T>C rs139999174 0.00416
NM_003659.4(AGPS):c.*3381G>A rs190466352 0.00412
NM_000030.3(AGXT):c.*19G>A rs143458283 0.00409
NM_004035.7(ACOX1):c.*2625T>C rs570538901 0.00396
NM_000030.3(AGXT):c.976G>A (p.Val326Ile) rs115057148 0.00394
NM_014324.5(AMACR):c.-70G>A rs563347179 0.00386
NM_000318.3(PEX2):c.*1174A>G rs562263817 0.00343
NM_000414.4(HSD17B4):c.*278T>A rs149665666 0.00333
NM_003659.4(AGPS):c.*4232A>G rs145593745 0.00314
NM_001127649.3(PEX26):c.*954T>C rs188986907 0.00307
NM_000318.3(PEX2):c.*1012C>T rs181539288 0.00300
NM_002618.4(PEX13):c.*956G>T rs141215166 0.00300
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426 0.00294
NM_002618.4(PEX13):c.*383A>T rs149099359 0.00290
NM_001127649.3(PEX26):c.*828C>T rs551641353 0.00287
NM_015294.6(TRIM37):c.*1025A>G rs914 0.00274
NM_003659.4(AGPS):c.*5609G>A rs191948308 0.00267
NM_003659.4(AGPS):c.*4780G>A rs542429122 0.00264
NM_004035.7(ACOX1):c.*1738A>G rs191352194 0.00258
NM_000318.3(PEX2):c.*2894T>C rs569387185 0.00257
NM_000030.3(AGXT):c.424-16G>A rs74895925 0.00239
NM_000318.3(PEX2):c.209A>G (p.Tyr70Cys) rs35689779 0.00239
NM_000030.3(AGXT):c.680+75G>A rs117619103 0.00233
NM_000030.3(AGXT):c.423+45T>G rs117357855 0.00232
NM_000030.3(AGXT):c.423+29C>T rs117043148 0.00230
NM_004565.3(PEX14):c.170-13C>T rs182967518 0.00222
NM_001351132.2(PEX5):c.1521C>T (p.Ala507=) rs150761638 0.00221
NM_003630.3(PEX3):c.-96G>T rs375554173 0.00220
NM_000466.3(PEX1):c.330C>G (p.Pro110=) rs71560821 0.00218
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala) rs144942544 0.00217
NM_000466.3(PEX1):c.2442C>T (p.Phe814=) rs145430946 0.00216
NM_001351132.2(PEX5):c.604G>C (p.Val202Leu) rs149102738 0.00209
NM_002857.4(PEX19):c.261C>T (p.Phe87=) rs146644725 0.00206
NM_002618.3(PEX13):c.-68C>T rs571713221 0.00193
NM_004813.4(PEX16):c.204G>T (p.Glu68Asp) rs149348130 0.00192
NM_001351132.2(PEX5):c.-16-274G>A rs542096066 0.00191
NM_000318.3(PEX2):c.91C>G (p.Gln31Glu) rs149287302 0.00190
NM_001127649.3(PEX26):c.325T>C (p.Tyr109His) rs45567240 0.00190
NM_000288.4(PEX7):c.*38G>A rs41288965 0.00188
NM_000466.3(PEX1):c.3810T>A (p.Ser1270Arg) rs139054881 0.00188
NM_003630.2(PEX3):c.-247T>C rs138955442 0.00187
NM_000466.3(PEX1):c.637C>T (p.Leu213Phe) rs141798874 0.00185
NM_014236.4(GNPAT):c.629G>A (p.Arg210Gln) rs142283145 0.00185
NM_002618.4(PEX13):c.*3106T>C rs148515938 0.00183
NM_002618.4(PEX13):c.355G>A (p.Val119Ile) rs147707348 0.00181
NM_004035.7(ACOX1):c.*620G>A rs777876086 0.00181
NM_000286.3(PEX12):c.451C>T (p.Arg151Cys) rs138731505 0.00180
NM_001127649.3(PEX26):c.200A>G (p.Asn67Ser) rs201884779 0.00179
NM_001127649.3(PEX26):c.409G>C (p.Val137Leu) rs142648687 0.00179
NM_004565.3(PEX14):c.825G>A (p.Ser275=) rs143412169 0.00179
NM_002617.4(PEX10):c.*643C>T rs150136015 0.00177
NM_002617.4(PEX10):c.712G>C (p.Gly238Arg) rs61736380 0.00172
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr) rs140992177 0.00171
NM_001127649.3(PEX26):c.*1156T>C rs565644082 0.00171
NM_001127649.3(PEX26):c.*1194G>A rs118188952 0.00171
NM_003659.4(AGPS):c.*206T>C rs74536999 0.00171
NM_004565.3(PEX14):c.*576A>G rs530124005 0.00170
NM_001752.4(CAT):c.903+5G>T rs147912187 0.00169
NM_004035.7(ACOX1):c.497A>G (p.Asn166Ser) rs145056278 0.00167
NM_000288.3(PEX7):c.-77T>C rs1321472 0.00160
NM_000466.3(PEX1):c.*292G>A rs138531138 0.00159
NM_000466.3(PEX1):c.130-9T>C rs377337949 0.00157
NM_000466.3(PEX1):c.1011G>A (p.Lys337=) rs142018583 0.00155
NM_001351132.2(PEX5):c.*179A>G rs192786621 0.00155
NM_006214.4(PHYH):c.356C>T (p.Thr119Met) rs34571629 0.00155
NM_003659.4(AGPS):c.*4996C>T rs183868732 0.00149
NM_000318.3(PEX2):c.*659C>G rs551943990 0.00148
NM_004035.7(ACOX1):c.1368C>T (p.Asn456=) rs151255626 0.00147
NM_000288.4(PEX7):c.*272A>G rs186705952 0.00145
NM_000030.3(AGXT):c.866G>A (p.Arg289His) rs61729604 0.00143
NM_006214.4(PHYH):c.244C>G (p.Arg82Gly) rs145404396 0.00140
NM_015294.6(TRIM37):c.-203C>A rs182346107 0.00140
NM_014324.6(AMACR):c.*2044C>A rs529140346 0.00135
NM_001127649.3(PEX26):c.*1720G>A rs749348676 0.00134
NM_001351132.2(PEX5):c.*452G>C rs185474091 0.00134
NM_002857.4(PEX19):c.*864C>T rs144938105 0.00132
NM_003630.3(PEX3):c.*321A>T rs1030569248 0.00132
NM_015294.6(TRIM37):c.*172C>T rs142113543 0.00126
NM_006214.4(PHYH):c.601C>G (p.Arg201Gly) rs143957922 0.00124
NM_000414.4(HSD17B4):c.1210-8T>C rs34254740 0.00123
NM_014324.6(AMACR):c.-22C>G rs35448266 0.00123
NM_000287.4(PEX6):c.1718C>T (p.Thr573Ile) rs140769712 0.00122
NM_001127649.3(PEX26):c.911G>A (p.Arg304His) rs17851387 0.00121
NM_004035.7(ACOX1):c.*1678C>T rs185971543 0.00121
NM_003659.4(AGPS):c.*731A>G rs185715744 0.00119
NM_004035.7(ACOX1):c.-76C>G rs552785255 0.00118
NM_000033.4(ABCD1):c.707G>A (p.Arg236His) rs201455322 0.00114
NM_004035.7(ACOX1):c.*3551G>A rs192191225 0.00114
NM_014324.6(AMACR):c.*2088A>T rs182361997 0.00114
NM_002618.4(PEX13):c.893T>C (p.Met298Thr) rs138545154 0.00110
NM_014236.4(GNPAT):c.1212T>C (p.Ala404=) rs143205045 0.00110
NM_002857.4(PEX19):c.181-5C>T rs199818690 0.00109
NM_004035.7(ACOX1):c.*2267A>G rs541192594 0.00109
NM_002618.4(PEX13):c.*357T>C rs138236564 0.00108
NM_000318.3(PEX2):c.*1716A>G rs192555214 0.00107
NM_004565.3(PEX14):c.36+8G>A rs200154696 0.00107
NM_000318.3(PEX2):c.-183G>T rs568404564 0.00106
NM_004035.7(ACOX1):c.*441G>A rs182375752 0.00106
NM_002617.4(PEX10):c.601-27A>G rs144264865 0.00103
NM_002618.4(PEX13):c.*1961T>C rs771587917 0.00102
NM_000286.3(PEX12):c.722G>T (p.Gly241Val) rs139417458 0.00101
NM_001127649.3(PEX26):c.*113G>A rs199653646 0.00101
NM_003630.3(PEX3):c.578+8A>G rs200807211 0.00101
NM_014236.4(GNPAT):c.65T>C (p.Val22Ala) rs143388851 0.00101
NM_001127649.3(PEX26):c.*133C>T rs200243782 0.00099
NM_002857.4(PEX19):c.459G>A (p.Leu153=) rs78340311 0.00098
NM_003659.4(AGPS):c.*4132A>G rs544412431 0.00098
NM_001127649.3(PEX26):c.*439C>G rs148217514 0.00096
NM_003659.4(AGPS):c.*1858A>G rs868072755 0.00096
NM_004035.7(ACOX1):c.*1431A>G rs138647867 0.00095
NM_004035.7(ACOX1):c.*4039G>T rs577207820 0.00094
NM_015294.6(TRIM37):c.-100C>T rs978604818 0.00094
NM_000466.3(PEX1):c.2926+8T>C rs369877998 0.00093
NM_002857.4(PEX19):c.16G>A (p.Glu6Lys) rs145845197 0.00093
NM_006214.4(PHYH):c.829-3C>A rs116930123 0.00093
NM_014236.4(GNPAT):c.*45C>T rs190670284 0.00093
NM_014324.6(AMACR):c.*1942C>T rs543725887 0.00092
NM_000030.3(AGXT):c.166-56C>T rs114401766 0.00090
NM_003630.3(PEX3):c.165A>G (p.Gln55=) rs41285015 0.00090
NM_000033.4(ABCD1):c.895C>T (p.His299Tyr) rs202195978 0.00088
NM_000414.3(HSD17B4):c.-119C>G rs11739468 0.00087
NM_001131025.1(PEX5):c.*1251G>A rs538222740 0.00086
NM_000288.4(PEX7):c.615C>T (p.Asp205=) rs147298444 0.00085
NM_002857.4(PEX19):c.*1069G>A rs542626903 0.00084
NM_014324.6(AMACR):c.554T>C (p.Val185Ala) rs145786819 0.00084
NM_001127649.3(PEX26):c.728C>T (p.Ala243Val) rs149153003 0.00083
NM_001131025.1(PEX5):c.*1259G>C rs148385560 0.00080
NM_001127649.3(PEX26):c.*1922C>T rs181819830 0.00078
NM_004035.7(ACOX1):c.*2969A>G rs186334014 0.00078
NM_003659.4(AGPS):c.*3931A>G rs190151334 0.00077
NM_000288.4(PEX7):c.339+10A>G rs374668045 0.00075
NM_001127649.3(PEX26):c.*2195A>G rs565621911 0.00074
NM_003659.4(AGPS):c.*921A>G rs555058166 0.00072
NM_003659.4(AGPS):c.1086C>T (p.His362=) rs138280491 0.00072
NM_014324.6(AMACR):c.*714T>C rs143877467 0.00072
NM_004035.7(ACOX1):c.*3345C>A rs745760931 0.00071
NM_004565.3(PEX14):c.575C>G (p.Ala192Gly) rs147706488 0.00070
NM_000466.3(PEX1):c.3216T>C (p.Ser1072=) rs140963147 0.00069
NM_003659.4(AGPS):c.64G>A (p.Ala22Thr) rs759572190 0.00069
NM_000287.4(PEX6):c.853C>G (p.Pro285Ala) rs61753220 0.00067
NM_002857.4(PEX19):c.498T>G (p.Asp166Glu) rs142780305 0.00067
NM_000414.4(HSD17B4):c.*135T>G rs185522709 0.00065
NM_000466.3(PEX1):c.3373A>T (p.Met1125Leu) rs142994610 0.00065
NM_001351132.2(PEX5):c.-53T>C rs770339670 0.00065
NM_015294.6(TRIM37):c.2262A>G (p.Thr754=) rs187769000 0.00065
NM_001127649.3(PEX26):c.643G>A (p.Glu215Lys) rs138232280 0.00063
NM_002618.4(PEX13):c.*216T>C rs146980377 0.00063
NM_003659.4(AGPS):c.1380A>C (p.Pro460=) rs148418568 0.00062
NM_015294.6(TRIM37):c.*381T>C rs886053173 0.00062
NM_000030.3(AGXT):c.*39G>A rs369979466 0.00061
NM_003659.4(AGPS):c.637+13C>T rs182602770 0.00060
NM_003659.4(AGPS):c.*2437A>G rs561448661 0.00059
NM_004035.7(ACOX1):c.1478+13T>C rs199908120 0.00059
NM_000466.3(PEX1):c.-43T>G rs572810743 0.00058
NM_001127649.3(PEX26):c.*2449C>T rs140919342 0.00058
NM_002617.4(PEX10):c.896C>T (p.Ala299Val) rs78620392 0.00058
NM_003630.3(PEX3):c.*129C>T rs41285017 0.00058
NM_003659.4(AGPS):c.*3262C>A rs115216884 0.00058
NM_003659.4(AGPS):c.54C>T (p.Ser18=) rs774742400 0.00057
NM_004565.3(PEX14):c.474C>A (p.Ser158Arg) rs145867351 0.00057
NM_000286.3(PEX12):c.-427G>A rs531286605 0.00056
NM_001351132.2(PEX5):c.*110G>A rs775495288 0.00056
NM_000466.3(PEX1):c.2792C>A (p.Ala931Asp) rs144825021 0.00055
NM_004813.4(PEX16):c.*175C>A rs375099703 0.00055
NM_000288.4(PEX7):c.418-4G>T rs199552223 0.00054
NM_004035.7(ACOX1):c.*4259C>T rs150647165 0.00054
NM_002617.4(PEX10):c.*854G>A rs556816263 0.00053
NM_002857.4(PEX19):c.-4C>T rs201541204 0.00053
NM_014324.6(AMACR):c.*1110G>T rs141969465 0.00053
NM_000288.4(PEX7):c.128C>T (p.Ala43Val) rs780369944 0.00052
NM_000318.3(PEX2):c.*2057G>A rs568202276 0.00052
NM_002617.4(PEX10):c.*10C>T rs367845280 0.00052
NM_000030.3(AGXT):c.1142G>A (p.Arg381Lys) rs151185188 0.00051
NM_004813.2(PEX16):c.-184A>G rs745333570 0.00051
NM_006214.4(PHYH):c.678+5G>T rs201499815 0.00049
NM_001351132.2(PEX5):c.1587C>T (p.Gly529=) rs144401814 0.00048
NM_000033.4(ABCD1):c.41C>G (p.Thr14Arg) rs782161942 0.00047
NM_001351132.2(PEX5):c.1814G>A (p.Ser605Asn) rs146567534 0.00047
NM_002618.4(PEX13):c.*1649C>T rs1042646135 0.00047
NM_000030.3(AGXT):c.1048G>A (p.Gly350Ser) rs199610919 0.00046
NM_000318.3(PEX2):c.282A>T (p.Arg94Ser) rs140963177 0.00046
NM_001127649.3(PEX26):c.*2807_*2808del rs754613851 0.00046
NM_001127649.3(PEX26):c.*2810G>C rs781588186 0.00046
NM_001127649.3(PEX26):c.667+8A>G rs200880379 0.00046
NM_002618.4(PEX13):c.*1998T>C rs559684247 0.00046
NM_002617.4(PEX10):c.418G>C (p.Gly140Arg) rs76530653 0.00045
NM_004035.7(ACOX1):c.1344G>A (p.Val448=) rs753969664 0.00045
NM_001351132.2(PEX5):c.552-7G>A rs189631769 0.00044
NM_002857.4(PEX19):c.*1335G>T rs748536788 0.00044
NM_000030.3(AGXT):c.35A>G (p.Lys12Arg) rs142969817 0.00043
NM_000030.3(AGXT):c.865C>T (p.Arg289Cys) rs180177290 0.00043
NM_000318.3(PEX2):c.322G>C (p.Val108Leu) rs148101729 0.00043
NM_002617.4(PEX10):c.627G>A (p.Glu209=) rs141430704 0.00043
NM_002618.4(PEX13):c.791G>C (p.Ser264Thr) rs145568490 0.00043
NM_004035.7(ACOX1):c.458C>T (p.Thr153Ile) rs17855420 0.00043
NM_000287.4(PEX6):c.1234-11A>G rs201879957 0.00041
NM_001351132.2(PEX5):c.*1134T>A rs769928491 0.00041
NM_002857.4(PEX19):c.254C>T (p.Ala85Val) rs11550119 0.00041
NM_003659.4(AGPS):c.*2833G>T rs563411002 0.00041
NM_003659.4(AGPS):c.*469A>T rs3171913 0.00041
NM_015294.6(TRIM37):c.2430C>T (p.Pro810=) rs147639509 0.00041
NM_002617.4(PEX10):c.816G>T (p.Leu272=) rs144440263 0.00040
NM_002618.4(PEX13):c.*263A>T rs558525565 0.00040
NM_000287.4(PEX6):c.1757C>T (p.Ala586Val) rs146416679 0.00039
NM_001127649.3(PEX26):c.*1509C>G rs571401889 0.00039
NM_001351132.2(PEX5):c.754-4G>A rs111286659 0.00039
NM_002618.4(PEX13):c.*1416G>T rs573040186 0.00039
NM_004035.7(ACOX1):c.*4516G>A rs553127304 0.00039
NM_000030.3(AGXT):c.165+40A>C rs57017537 0.00038
NM_000466.3(PEX1):c.1360-4G>T rs199716270 0.00038
NM_003659.4(AGPS):c.*5453C>T rs560420420 0.00038
NM_000287.4(PEX6):c.*343G>C rs117055658 0.00037
NM_000287.4(PEX6):c.503C>T (p.Pro168Leu) rs200026148 0.00037
NM_003659.4(AGPS):c.231G>A (p.Ala77=) rs576982787 0.00037
NM_000030.3(AGXT):c.424-4T>C rs369523966 0.00036
NM_000414.4(HSD17B4):c.2176C>G (p.Leu726Val) rs145728297 0.00036
NM_001127649.3(PEX26):c.895dup (p.Tyr299fs) rs759821636 0.00036
NM_001351132.2(PEX5):c.*137C>T rs773375737 0.00036
NM_002857.4(PEX19):c.402T>C (p.Ser134=) rs139828188 0.00036
NM_004813.4(PEX16):c.695-6C>T rs372182266 0.00036
NM_014236.4(GNPAT):c.1095T>C (p.Phe365=) rs139272614 0.00036
NM_014236.4(GNPAT):c.1892C>T (p.Ala631Val) rs142487190 0.00036
NM_015294.6(TRIM37):c.*235G>A rs779555532 0.00036
NM_015294.6(TRIM37):c.*344G>A rs886053174 0.00036
NM_001351132.2(PEX5):c.1707C>T (p.Leu569=) rs151312595 0.00035
NM_002618.4(PEX13):c.*1377G>A rs536283006 0.00035
NM_000286.3(PEX12):c.-495C>T rs577172680 0.00034
NM_000414.4(HSD17B4):c.*134C>T rs543194892 0.00034
NM_000466.3(PEX1):c.2584-9del rs886062504 0.00034
NM_000466.3(PEX1):c.939T>C (p.His313=) rs199647157 0.00034
NM_002617.4(PEX10):c.812C>T (p.Pro271Leu) rs142088776 0.00034
NM_002618.4(PEX13):c.*446A>G rs554737021 0.00034
NM_003659.4(AGPS):c.148C>T (p.Arg50Trp) rs778087162 0.00034
NM_004813.4(PEX16):c.*107C>T rs201513691 0.00034
NM_006214.4(PHYH):c.792C>T (p.His264=) rs372047384 0.00034
NM_000030.3(AGXT):c.165+44T>A rs58120546 0.00033
NM_015294.6(TRIM37):c.2367C>G (p.Asp789Glu) rs143642427 0.00033
NM_000033.4(ABCD1):c.*903G>A rs78155328 0.00032
NM_000288.4(PEX7):c.94C>T (p.Leu32=) rs886061118 0.00032
NM_000466.3(PEX1):c.3503A>G (p.Asp1168Gly) rs182452430 0.00032
NM_001127649.3(PEX26):c.*2386C>G rs148534099 0.00032
NM_001351132.2(PEX5):c.*446_*452dup rs771366153 0.00032
NM_002857.4(PEX19):c.*2717A>G rs574056299 0.00032
NM_003659.4(AGPS):c.*2730G>A rs557473958 0.00032
NM_003659.4(AGPS):c.*428C>T rs574178840 0.00032
NM_000033.4(ABCD1):c.*767C>T rs1276642493 0.00031
NM_000318.3(PEX2):c.*1858G>A rs777834563 0.00031
NM_001127649.3(PEX26):c.*578A>G rs150745941 0.00031
NM_003659.4(AGPS):c.214A>G (p.Thr72Ala) rs560217758 0.00031
NM_004035.6(ACOX1):c.-186T>A rs543914514 0.00031
NM_004035.7(ACOX1):c.1418C>T (p.Thr473Ile) rs200608977 0.00031
NM_000287.4(PEX6):c.1670A>G (p.Asn557Ser) rs138621982 0.00030
NM_000318.3(PEX2):c.304C>A (p.Gln102Lys) rs200065382 0.00030
NM_002618.4(PEX13):c.*803A>G rs561112537 0.00030
NM_002618.4(PEX13):c.*90A>G rs535967834 0.00030
NM_015294.6(TRIM37):c.*369C>T rs375182197 0.00030
NM_000286.3(PEX12):c.*380G>C rs762716335 0.00029
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_000318.3(PEX2):c.*1749A>T rs556984036 0.00029
NM_000414.4(HSD17B4):c.1685G>A (p.Arg562His) rs35281104 0.00029
NM_000466.3(PEX1):c.1360-7C>T rs371890000 0.00029
NM_000466.3(PEX1):c.3044A>C (p.Glu1015Ala) rs185181696 0.00029
NM_001127649.3(PEX26):c.*977C>T rs181706274 0.00029
NM_001351132.2(PEX5):c.590C>T (p.Thr197Met) rs144897942 0.00029
NM_002617.4(PEX10):c.316C>T (p.Leu106=) rs140340426 0.00029
NM_002618.4(PEX13):c.*962G>A rs931059778 0.00029
NM_002857.4(PEX19):c.878G>C (p.Gly293Ala) rs139875266 0.00029
NM_004035.7(ACOX1):c.*1014A>G rs573099492 0.00029
NM_004035.7(ACOX1):c.*2699C>G rs983903623 0.00029
NM_004565.3(PEX14):c.416G>A (p.Arg139Gln) rs147683525 0.00029
NM_004565.3(PEX14):c.451G>A (p.Gly151Ser) rs145888212 0.00029
NM_000466.3(PEX1):c.3031G>A (p.Val1011Met) rs141650598 0.00028
NM_000466.3(PEX1):c.3106G>T (p.Ala1036Ser) rs754130942 0.00028
NM_003630.3(PEX3):c.*677C>T rs886061136 0.00028
NM_004035.7(ACOX1):c.*2737C>T rs777324722 0.00028
NM_004035.7(ACOX1):c.*5092A>G rs371782179 0.00028
NM_004813.2(PEX16):c.-164G>T rs773746164 0.00028
NM_000318.3(PEX2):c.447T>G (p.Gly149=) rs375401977 0.00027
NM_001127649.3(PEX26):c.*2339G>A rs772852627 0.00027
NM_002617.4(PEX10):c.*410G>A rs886046144 0.00027
NM_003659.4(AGPS):c.*2455C>T rs376557428 0.00027
NM_003659.4(AGPS):c.*683A>G rs749195776 0.00027
NM_004813.4(PEX16):c.*70C>G rs530762140 0.00027
NM_000287.4(PEX6):c.1884+3G>A rs377041406 0.00026
NM_001127649.3(PEX26):c.198C>T (p.Ala66=) rs374290931 0.00026
NM_001127649.3(PEX26):c.207C>T (p.Ala69=) rs375516973 0.00026
NM_001351132.2(PEX5):c.*627C>T rs146897980 0.00026
NM_003659.4(AGPS):c.*378G>A rs886055170 0.00026
NM_004035.7(ACOX1):c.*5000G>T rs778738153 0.00026
NM_004813.4(PEX16):c.461A>G (p.Asp154Gly) rs140695185 0.00026
NM_014324.6(AMACR):c.182G>C (p.Arg61Pro) rs765322702 0.00026
NM_002617.4(PEX10):c.622G>A (p.Gly208Arg) rs138489241 0.00025
NM_014236.4(GNPAT):c.1043A>G (p.Asn348Ser) rs201538200 0.00025
NM_014236.4(GNPAT):c.286G>T (p.Val96Leu) rs139378588 0.00025
NM_000287.4(PEX6):c.-79C>T rs186587060 0.00024
NM_000287.4(PEX6):c.488G>C (p.Arg163Pro) rs778791031 0.00024
NM_002617.4(PEX10):c.116C>T (p.Ala39Val) rs149421567 0.00024
NM_003659.4(AGPS):c.*5465C>T rs886055199 0.00024
NM_004813.4(PEX16):c.1002T>C (p.Ser334=) rs144897515 0.00024
NM_006214.4(PHYH):c.948T>C (p.Asn316=) rs143734330 0.00024
NM_012062.5(DNM1L):c.305C>T (p.Thr102Met) rs201929226 0.00024
NM_001351132.2(PEX5):c.-5T>C rs371185376 0.00023
NM_002617.4(PEX10):c.*401A>C rs866387988 0.00023
NM_002618.4(PEX13):c.*2495A>T rs777198802 0.00023
NM_003630.3(PEX3):c.*287A>G rs779692327 0.00023
NM_006214.4(PHYH):c.*188A>C rs1307667521 0.00023
NM_014324.6(AMACR):c.*233T>C rs557294515 0.00023
NM_000030.3(AGXT):c.145A>C (p.Met49Leu) rs74205173 0.00022
NM_000286.3(PEX12):c.*923G>A rs576761038 0.00022
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_001351132.2(PEX5):c.452C>G (p.Pro151Arg) rs200720523 0.00022
NM_002617.4(PEX10):c.611G>A (p.Arg204His) rs199934621 0.00022
NM_004035.7(ACOX1):c.*1021C>A rs867741007 0.00022
NM_014324.6(AMACR):c.783G>A (p.Met261Ile) rs9282593 0.00022
NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met) rs150326995 0.00021
NM_000466.3(PEX1):c.2045C>T (p.Ala682Val) rs145350631 0.00021
NM_001127649.3(PEX26):c.*280G>A rs188897908 0.00021
NM_001351132.2(PEX5):c.*322C>T rs764082627 0.00021
NM_002617.4(PEX10):c.*310G>A rs539850807 0.00021
NM_002617.4(PEX10):c.776+8C>T rs370594705 0.00021
NM_002857.4(PEX19):c.*2224G>T rs573966291 0.00021
NM_002857.4(PEX19):c.*2536A>G rs141829599 0.00021
NM_003659.4(AGPS):c.*2621C>T rs550196684 0.00021
NM_004565.3(PEX14):c.360A>G (p.Ala120=) rs148479162 0.00021
NM_014324.6(AMACR):c.*1032G>C rs550891172 0.00021
NM_000033.4(ABCD1):c.*412T>C rs1057515815 0.00020
NM_000286.3(PEX12):c.84T>C (p.Ser28=) rs200641558 0.00020
NM_000287.4(PEX6):c.1303C>A (p.Pro435Thr) rs115186444 0.00020
NM_000414.3(HSD17B4):c.-130C>T rs536737707 0.00020
NM_004035.7(ACOX1):c.*2688C>T rs550555029 0.00020
NM_004035.7(ACOX1):c.703A>G (p.Ile235Val) rs199538132 0.00020
NM_015294.6(TRIM37):c.*622T>C rs886053172 0.00020
NM_000030.3(AGXT):c.489G>A (p.Leu163=) rs147601535 0.00019
NM_000288.4(PEX7):c.188+3A>G rs200234391 0.00019
NM_000414.4(HSD17B4):c.1929G>A (p.Val643=) rs148189286 0.00019
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) rs137853096 0.00019
NM_001351132.2(PEX5):c.*495G>A rs776371289 0.00019
NM_002617.4(PEX10):c.*420G>A rs868844283 0.00019
NM_003659.4(AGPS):c.*4885A>G rs886055196 0.00019
NM_004035.7(ACOX1):c.574C>A (p.Gln192Lys) rs200833797 0.00019
NM_004565.3(PEX14):c.18G>C (p.Gln6His) rs200395336 0.00019
NM_004813.4(PEX16):c.832A>G (p.Thr278Ala) rs765797303 0.00019
NM_006214.4(PHYH):c.581C>T (p.Thr194Met) rs141554572 0.00019
NM_014236.4(GNPAT):c.1307C>T (p.Pro436Leu) rs757791949 0.00019
NM_014236.4(GNPAT):c.608T>A (p.Met203Lys) rs779199619 0.00019
NM_000286.3(PEX12):c.-434A>C rs771210303 0.00018
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_001127649.3(PEX26):c.716T>C (p.Leu239Pro) rs757411841 0.00018
NM_002617.4(PEX10):c.27G>A (p.Pro9=) rs559431523 0.00018
NM_002857.4(PEX19):c.*1980T>C rs372976790 0.00018
NM_002857.4(PEX19):c.*2413C>T rs183164292 0.00018
NM_003659.4(AGPS):c.*1744A>G rs540754346 0.00018
NM_004035.7(ACOX1):c.*1853T>C rs373499939 0.00018
NM_004035.7(ACOX1):c.*3915C>T rs559485748 0.00018
NM_004035.7(ACOX1):c.*481G>A rs191031491 0.00018
NM_004813.4(PEX16):c.814C>T (p.Arg272Trp) rs560024236 0.00018
NM_001351132.2(PEX5):c.316+3G>A rs200776790 0.00017
NM_002618.4(PEX13):c.*3126A>G rs745626475 0.00017
NM_002618.4(PEX13):c.856G>A (p.Val286Ile) rs201699810 0.00017
NM_004813.4(PEX16):c.196C>T (p.Arg66Trp) rs767624302 0.00017
NM_000030.3(AGXT):c.524+6C>A rs770992934 0.00016
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_000318.3(PEX2):c.*1400A>G rs1002618013 0.00016
NM_000318.3(PEX2):c.*2518C>T rs886063124 0.00016
NM_000414.4(HSD17B4):c.1417C>T (p.Arg473Trp) rs201455193 0.00016
NM_000466.3(PEX1):c.-19A>G rs368326503 0.00016
NM_000466.3(PEX1):c.2200G>A (p.Val734Ile) rs141510219 0.00016
NM_000466.3(PEX1):c.627G>A (p.Met209Ile) rs200752969 0.00016
NM_001127649.3(PEX26):c.*1152G>C rs886057252 0.00016
NM_001127649.3(PEX26):c.-381C>T rs561094254 0.00016
NM_001127649.3(PEX26):c.98C>T (p.Pro33Leu) rs368118099 0.00016
NM_001351132.2(PEX5):c.670G>A (p.Glu224Lys) rs767347186 0.00016
NM_002617.4(PEX10):c.424C>T (p.Arg142Trp) rs372914003 0.00016
NM_002618.4(PEX13):c.*2159T>C rs886056206 0.00016
NM_003659.4(AGPS):c.*4100A>G rs187827630 0.00016
NM_004035.7(ACOX1):c.*155A>T rs544439410 0.00016
NM_004813.4(PEX16):c.726G>A (p.Ser242=) rs200414298 0.00016
NM_014236.4(GNPAT):c.1744-13C>T rs188474049 0.00016
NM_015294.6(TRIM37):c.1815C>T (p.Ser605=) rs142101613 0.00016
NM_000287.4(PEX6):c.543G>A (p.Val181=) rs368560418 0.00015
NM_000466.3(PEX1):c.2558T>C (p.Met853Thr) rs143283146 0.00015
NM_001127649.3(PEX26):c.*36G>A rs202010734 0.00015
NM_001351132.2(PEX5):c.371C>G (p.Ala124Gly) rs143307183 0.00015
NM_002857.4(PEX19):c.*77del rs771535781 0.00015
NM_006214.4(PHYH):c.606C>A (p.Asn202Lys) rs201979258 0.00015
NM_000033.4(ABCD1):c.1780+4G>A rs193922095 0.00014
NM_000318.3(PEX2):c.*1854A>C rs886063127 0.00014
NM_000466.3(PEX1):c.1249G>A (p.Asp417Asn) rs143273433 0.00014
NM_000466.3(PEX1):c.3250A>G (p.Met1084Val) rs781277635 0.00014
NM_000466.3(PEX1):c.3283G>A (p.Asp1095Asn) rs753699011 0.00014
NM_001127649.3(PEX26):c.29C>T (p.Ala10Val) rs768425084 0.00014
NM_001351132.2(PEX5):c.-17+71G>A rs927673107 0.00014
NM_001351132.2(PEX5):c.1395C>A (p.Asp465Glu) rs772561166 0.00014
NM_002617.4(PEX10):c.*627C>T rs886046142 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_002618.4(PEX13):c.*813G>C rs781689721 0.00014
NM_002857.4(PEX19):c.*854G>A rs747191827 0.00014
NM_004035.7(ACOX1):c.*4346G>C rs886053435 0.00014
NM_004035.7(ACOX1):c.1695T>C (p.Tyr565=) rs774049893 0.00014
NM_014236.4(GNPAT):c.1072C>A (p.Gln358Lys) rs200830930 0.00014
NM_014236.4(GNPAT):c.57C>T (p.Ser19=) rs199844062 0.00014
NM_014236.4(GNPAT):c.747T>C (p.Ser249=) rs202033127 0.00014
NM_014324.6(AMACR):c.844G>C (p.Glu282Gln) rs181341030 0.00014
NM_000033.4(ABCD1):c.2044G>C (p.Glu682Gln) rs781793261 0.00013
NM_000287.4(PEX6):c.2534T>C (p.Ile845Thr) rs61753226 0.00013
NM_000288.3(PEX7):c.-91G>A rs772358439 0.00013
NM_000318.3(PEX2):c.*595C>T rs754113775 0.00013
NM_000414.4(HSD17B4):c.11C>G (p.Pro4Arg) rs142889209 0.00013
NM_000466.3(PEX1):c.891A>G (p.Ile297Met) rs143206380 0.00013
NM_001127649.3(PEX26):c.*1684T>C rs886057255 0.00013
NM_001351132.2(PEX5):c.*132C>G rs753013794 0.00013
NM_001351132.2(PEX5):c.*296C>T rs758323453 0.00013
NM_001351132.2(PEX5):c.*891A>G rs371691416 0.00013
NM_001351132.2(PEX5):c.1559A>G (p.Asn520Ser) rs139364109 0.00013
NM_001351132.2(PEX5):c.1897A>C (p.Thr633Pro) rs200471952 0.00013
NM_004035.7(ACOX1):c.*2736G>A rs563182345 0.00013
NM_004035.7(ACOX1):c.722A>G (p.Lys241Arg) rs756260598 0.00013
NM_004565.3(PEX14):c.381C>T (p.Tyr127=) rs372630614 0.00013
NM_004813.4(PEX16):c.877C>T (p.Arg293Cys) rs544053792 0.00013
NM_014236.4(GNPAT):c.1890C>T (p.Asn630=) rs201916449 0.00013
NM_015294.6(TRIM37):c.*663T>C rs186395715 0.00013
NM_015294.6(TRIM37):c.*961A>G rs3826354 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_000288.4(PEX7):c.28C>T (p.Arg10Trp) rs1321528623 0.00012
NM_000318.3(PEX2):c.*2519G>A rs1005895700 0.00012
NM_000318.3(PEX2):c.*596G>A rs139852334 0.00012
NM_000414.4(HSD17B4):c.1058C>T (p.Ala353Val) rs138560200 0.00012
NM_001127649.3(PEX26):c.*2308A>T rs775281083 0.00012
NM_001127649.3(PEX26):c.710G>A (p.Arg237His) rs370821533 0.00012
NM_002618.4(PEX13):c.*1174A>T rs182453488 0.00012
NM_002618.4(PEX13):c.*1376C>T rs927046080 0.00012
NM_004035.7(ACOX1):c.1584+11G>A rs185329691 0.00012
NM_004565.3(PEX14):c.*369A>G rs977546775 0.00012
NM_014324.6(AMACR):c.*1643T>C rs537161888 0.00012
NM_000030.3(AGXT):c.1071+12C>T rs375775541 0.00011
NM_000030.3(AGXT):c.1111G>A (p.Glu371Lys) rs369664123 0.00011
NM_000030.3(AGXT):c.885G>A (p.Ala295=) rs377132245 0.00011
NM_000030.3(AGXT):c.949C>T (p.Arg317Trp) rs774030578 0.00011
NM_000286.3(PEX12):c.-138T>C rs543169335 0.00011
NM_000286.3(PEX12):c.1002G>A (p.Arg334=) rs200283718 0.00011
NM_000286.3(PEX12):c.793T>C (p.Tyr265His) rs142726996 0.00011
NM_000287.4(PEX6):c.740C>G (p.Pro247Arg) rs199697021 0.00011
NM_000288.4(PEX7):c.44C>T (p.Pro15Leu) rs925593750 0.00011
NM_000288.4(PEX7):c.695G>A (p.Arg232Gln) rs191969418 0.00011
NM_000318.3(PEX2):c.*40G>A rs148915806 0.00011
NM_000414.4(HSD17B4):c.1262G>A (p.Gly421Glu) rs139500402 0.00011
NM_000414.4(HSD17B4):c.790A>G (p.Met264Val) rs149283499 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.2954G>A (p.Arg985His) rs202057449 0.00011
NM_001127649.3(PEX26):c.571C>T (p.Arg191Trp) rs150451390 0.00011
NM_001351132.2(PEX5):c.1439G>A (p.Arg480Gln) rs759523235 0.00011
NM_001351132.2(PEX5):c.1522G>A (p.Val508Met) rs138028549 0.00011
NM_001351132.2(PEX5):c.496C>G (p.Gln166Glu) rs751043763 0.00011
NM_001351132.2(PEX5):c.680T>C (p.Val227Ala) rs777842778 0.00011
NM_001351132.2(PEX5):c.966+3G>A rs373763823 0.00011
NM_001376.5(DYNC1H1):c.8200G>A (p.Val2734Met) rs376679623 0.00011
NM_002617.4(PEX10):c.268C>T (p.Leu90=) rs775772867 0.00011
NM_002617.4(PEX10):c.361C>A (p.Pro121Thr) rs1056200158 0.00011
NM_002617.4(PEX10):c.583C>T (p.Leu195Phe) rs116354317 0.00011
NM_002617.4(PEX10):c.915G>A (p.Ala305=) rs374891812 0.00011
NM_002618.4(PEX13):c.*2296G>A rs886056208 0.00011
NM_002618.4(PEX13):c.-7G>A rs200847026 0.00011
NM_002857.4(PEX19):c.*1013G>A rs747057473 0.00011
NM_003659.4(AGPS):c.*3606A>G rs370112990 0.00011
NM_003659.4(AGPS):c.*823T>A rs187354423 0.00011
NM_004035.7(ACOX1):c.*3060T>C rs184719344 0.00011
NM_004565.3(PEX14):c.993T>G (p.Asp331Glu) rs79954820 0.00011
NM_014236.4(GNPAT):c.-47C>A rs201907247 0.00011
NM_000030.3(AGXT):c.*160G>A rs776483024 0.00010
NM_000033.4(ABCD1):c.1582G>A (p.Gly528Ser) rs376472029 0.00010
NM_000286.3(PEX12):c.-147C>T rs559905700 0.00010
NM_000286.3(PEX12):c.681-2A>C rs187526749 0.00010
NM_000286.3(PEX12):c.737C>A (p.Ser246Tyr) rs200413804 0.00010
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_000318.3(PEX2):c.152G>A (p.Arg51His) rs549242503 0.00010
NM_000466.3(PEX1):c.3650T>G (p.Met1217Arg) rs200306465 0.00010
NM_001351132.2(PEX5):c.1653C>G (p.Leu551=) rs200215904 0.00010
NM_001351132.2(PEX5):c.195A>C (p.Glu65Asp) rs147730752 0.00010
NM_002617.4(PEX10):c.485G>A (p.Arg162Gln) rs756297578 0.00010
NM_002617.4(PEX10):c.895G>A (p.Ala299Thr) rs371030713 0.00010
NM_002857.4(PEX19):c.262G>A (p.Glu88Lys) rs372422266 0.00010
NM_002857.4(PEX19):c.845C>T (p.Ala282Val) rs373092548 0.00010
NM_002857.4(PEX19):c.857C>G (p.Ser286Trp) rs149976198 0.00010
NM_003630.3(PEX3):c.*1332A>G rs886061138 0.00010
NM_003630.3(PEX3):c.249A>G (p.Gln83=) rs139760270 0.00010
NM_003659.4(AGPS):c.*4056T>C rs377375306 0.00010
NM_003659.4(AGPS):c.*5072T>G rs552637479 0.00010
NM_004035.7(ACOX1):c.*1380T>C rs886053447 0.00010
NM_004565.3(PEX14):c.818C>T (p.Ser273Leu) rs149801951 0.00010
NM_004813.4(PEX16):c.*557G>C rs770223341 0.00010
NM_004813.4(PEX16):c.499G>A (p.Val167Met) rs147332976 0.00010
NM_014324.6(AMACR):c.*523C>T rs575264685 0.00010
NM_014324.6(AMACR):c.976C>T (p.Arg326Cys) rs371343345 0.00010
NM_015294.6(TRIM37):c.-296G>T rs886053181 0.00010
NM_000286.3(PEX12):c.306A>T (p.Arg102Ser) rs563487343 0.00009
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_000318.3(PEX2):c.*1755A>G rs886063129 0.00009
NM_000318.3(PEX2):c.*2973T>C rs751974703 0.00009
NM_000414.4(HSD17B4):c.1759C>G (p.Gln587Glu) rs138507337 0.00009
NM_000414.4(HSD17B4):c.1767G>T (p.Lys589Asn) rs142527052 0.00009
NM_000414.4(HSD17B4):c.628G>A (p.Val210Met) rs1017610439 0.00009
NM_000466.3(PEX1):c.3130G>A (p.Gly1044Arg) rs371136331 0.00009
NM_001127649.3(PEX26):c.886T>C (p.Ser296Pro) rs143243841 0.00009
NM_001351132.2(PEX5):c.1636C>T (p.Arg546Cys) rs759334733 0.00009
NM_001351132.2(PEX5):c.1875G>A (p.Ala625=) rs371233272 0.00009
NM_001351132.2(PEX5):c.610A>G (p.Lys204Glu) rs149289353 0.00009
NM_002617.4(PEX10):c.220G>A (p.Val74Ile) rs768438726 0.00009
NM_002617.4(PEX10):c.427C>T (p.Arg143Cys) rs199667764 0.00009
NM_002617.4(PEX10):c.641G>A (p.Arg214His) rs368143757 0.00009
NM_002617.4(PEX10):c.760G>A (p.Gly254Ser) rs761942658 0.00009
NM_002618.4(PEX13):c.*1005C>A rs375607663 0.00009
NM_002618.4(PEX13):c.*2229C>T rs1048932355 0.00009
NM_002618.4(PEX13):c.*851A>G rs917019488 0.00009
NM_002618.4(PEX13):c.113C>A (p.Thr38Asn) rs763566050 0.00009
NM_002618.4(PEX13):c.278A>G (p.Tyr93Cys) rs200211896 0.00009
NM_002618.4(PEX13):c.338T>C (p.Leu113Pro) rs202077756 0.00009
NM_003630.3(PEX3):c.798A>T (p.Glu266Asp) rs182665934 0.00009
NM_003659.4(AGPS):c.*1865C>T rs62182698 0.00009
NM_003659.4(AGPS):c.*560T>A rs867873949 0.00009
NM_003659.4(AGPS):c.1029T>C (p.Gly343=) rs368667324 0.00009
NM_004035.7(ACOX1):c.*1083C>T rs886053448 0.00009
NM_004035.7(ACOX1):c.*2843A>G rs914883828 0.00009
NM_004565.3(PEX14):c.488-14C>T rs200684088 0.00009
NM_004565.3(PEX14):c.766G>A (p.Val256Met) rs143378690 0.00009
NM_004565.3(PEX14):c.884C>A (p.Pro295His) rs545357144 0.00009
NM_004813.4(PEX16):c.262G>A (p.Val88Met) rs567165324 0.00009
NM_004813.4(PEX16):c.458C>T (p.Pro153Leu) rs779813719 0.00009
NM_004813.4(PEX16):c.946G>A (p.Val316Ile) rs775371916 0.00009
NM_014324.6(AMACR):c.518G>A (p.Arg173His) rs201818706 0.00009
NM_000030.3(AGXT):c.567C>T (p.Gly189=) rs373612587 0.00008
NM_000033.4(ABCD1):c.274G>A (p.Gly92Arg) rs201979180 0.00008
NM_000033.4(ABCD1):c.821G>A (p.Arg274Gln) rs781874815 0.00008
NM_000286.3(PEX12):c.*38C>T rs756694664 0.00008
NM_000286.3(PEX12):c.931C>T (p.Arg311Trp) rs373666248 0.00008
NM_000318.3(PEX2):c.*627G>T rs145960090 0.00008
NM_000318.3(PEX2):c.288G>A (p.Gln96=) rs370236723 0.00008
NM_000414.4(HSD17B4):c.1204G>A (p.Ala402Thr) rs780430704 0.00008
NM_000414.4(HSD17B4):c.994C>T (p.Leu332Phe) rs370579120 0.00008
NM_000466.3(PEX1):c.2876G>A (p.Arg959Gln) rs773206107 0.00008
NM_000466.3(PEX1):c.3637-14T>C rs745612436 0.00008
NM_001127649.3(PEX26):c.635G>T (p.Gly212Val) rs769550692 0.00008
NM_001351132.2(PEX5):c.472C>T (p.Arg158Cys) rs747679909 0.00008
NM_001351132.2(PEX5):c.642+6C>T rs376779359 0.00008
NM_001351132.2(PEX5):c.655G>A (p.Val219Met) rs144508802 0.00008
NM_001351132.2(PEX5):c.659G>A (p.Arg220Gln) rs148417349 0.00008
NM_002857.4(PEX19):c.*1145C>T rs75916849 0.00008
NM_002857.4(PEX19):c.*1163T>C rs575199724 0.00008
NM_002979.5(SCP2):c.230A>G (p.Tyr77Cys) rs138573524 0.00008
NM_003659.4(AGPS):c.*1238T>C rs899137263 0.00008
NM_003659.4(AGPS):c.1475+12A>G rs375684020 0.00008
NM_003659.4(AGPS):c.921C>T (p.Phe307=) rs138275695 0.00008
NM_004035.7(ACOX1):c.*1126A>G rs545439135 0.00008
NM_004035.7(ACOX1):c.*676G>T rs886053453 0.00008
NM_004035.7(ACOX1):c.*932T>C rs762398053 0.00008
NM_004035.7(ACOX1):c.788G>C (p.Gly263Ala) rs377216317 0.00008
NM_004565.3(PEX14):c.84G>A (p.Leu28=) rs551147900 0.00008
NM_006214.4(PHYH):c.*25C>T rs760780410 0.00008
NM_014324.6(AMACR):c.662C>T (p.Thr221Met) rs573730345 0.00008
NM_015294.6(TRIM37):c.*836A>G rs142111745 0.00008
NM_000030.3(AGXT):c.822G>C (p.Glu274Asp) rs146525143 0.00007
NM_000033.4(ABCD1):c.1840G>A (p.Gly614Ser) rs146525445 0.00007
NM_000033.4(ABCD1):c.1914C>T (p.Asp638=) rs199723613 0.00007
NM_000033.4(ABCD1):c.2065C>T (p.Arg689Cys) rs782376163 0.00007
NM_000255.4(MMUT):c.1963C>T (p.Arg655Cys) rs541001298 0.00007
NM_000286.3(PEX12):c.41C>A (p.Ala14Asp) rs193253559 0.00007
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_000414.4(HSD17B4):c.112+11G>A rs775970480 0.00007
NM_000466.3(PEX1):c.*428A>G rs769772779 0.00007
NM_000466.3(PEX1):c.1369A>G (p.Ile457Val) rs561561515 0.00007
NM_000466.3(PEX1):c.2021C>T (p.Pro674Leu) rs141509344 0.00007
NM_000466.3(PEX1):c.2465T>G (p.Leu822Arg) rs545731416 0.00007
NM_000466.3(PEX1):c.3398C>T (p.Ser1133Phe) rs185115432 0.00007
NM_001351132.2(PEX5):c.1030C>T (p.Arg344Trp) rs145762725 0.00007
NM_001351132.2(PEX5):c.1435G>C (p.Val479Leu) rs751226125 0.00007
NM_001351132.2(PEX5):c.356C>T (p.Ala119Val) rs745341735 0.00007
NM_002617.4(PEX10):c.*732G>A rs886046140 0.00007
NM_002617.4(PEX10):c.*835C>T rs886046136 0.00007
NM_002617.4(PEX10):c.527G>A (p.Arg176Gln) rs184150138 0.00007
NM_002618.4(PEX13):c.86C>G (p.Thr29Ser) rs543856265 0.00007
NM_002857.4(PEX19):c.*1745T>C rs186821837 0.00007
NM_002857.4(PEX19):c.*1852C>G rs370387085 0.00007
NM_003630.3(PEX3):c.*424T>C rs189379544 0.00007
NM_003630.3(PEX3):c.473C>G (p.Pro158Arg) rs199781957 0.00007
NM_003659.4(AGPS):c.*1105T>A rs188611962 0.00007
NM_003659.4(AGPS):c.*4674A>G rs1046647430 0.00007
NM_004035.6(ACOX1):c.-173C>T rs575138461 0.00007
NM_004035.7(ACOX1):c.*1458A>G rs190434510 0.00007
NM_004035.7(ACOX1):c.*1756G>A rs535627256 0.00007
NM_004035.7(ACOX1):c.*2559G>C rs556935739 0.00007
NM_004035.7(ACOX1):c.*4484A>G rs542553215 0.00007
NM_004035.7(ACOX1):c.667G>A (p.Val223Ile) rs143260706 0.00007
NM_004565.3(PEX14):c.1013A>G (p.Asp338Gly) rs201120958 0.00007
NM_004813.4(PEX16):c.360-7G>A rs202161790 0.00007
NM_006214.4(PHYH):c.76-9A>T rs368542152 0.00007
NM_014236.4(GNPAT):c.-82G>T rs748285545 0.00007
NM_014236.4(GNPAT):c.1280-8G>A rs776118687 0.00007
NM_015294.6(TRIM37):c.*484G>A rs182208565 0.00007
NM_000030.3(AGXT):c.-14G>A rs376396832 0.00006
NM_000030.3(AGXT):c.167T>A (p.Ile56Asn) rs180177180 0.00006
NM_000030.3(AGXT):c.214A>C (p.Asn72His) rs754637713 0.00006
NM_000030.3(AGXT):c.352C>T (p.Arg118Cys) rs376844297 0.00006
NM_000030.3(AGXT):c.82C>T (p.Pro28Ser) rs376684240 0.00006
NM_000033.4(ABCD1):c.100C>T (p.Pro34Ser) rs375019683 0.00006
NM_000033.4(ABCD1):c.2087A>T (p.Lys696Met) rs782157913 0.00006
NM_000286.3(PEX12):c.*519A>G rs886052827 0.00006
NM_000286.3(PEX12):c.*569T>A rs541598688 0.00006
NM_000286.3(PEX12):c.-108A>G rs886052831 0.00006
NM_000286.3(PEX12):c.-358G>T rs565433352 0.00006
NM_000286.3(PEX12):c.745A>G (p.Thr249Ala) rs371597789 0.00006
NM_000286.3(PEX12):c.763G>A (p.Val255Ile) rs746089337 0.00006
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_000288.4(PEX7):c.340-10A>G rs267608255 0.00006
NM_000288.4(PEX7):c.418-3T>C rs770117560 0.00006
NM_000318.3(PEX2):c.*1370A>G rs886063131 0.00006
NM_000318.3(PEX2):c.*1561G>A rs886063130 0.00006
NM_000318.3(PEX2):c.*489C>T rs886063136 0.00006
NM_000414.4(HSD17B4):c.303-11T>A rs767897278 0.00006
NM_000414.4(HSD17B4):c.622+5G>A rs536487449 0.00006
NM_000466.3(PEX1):c.1042A>G (p.Thr348Ala) rs371309198 0.00006
NM_000466.3(PEX1):c.1284C>T (p.Ala428=) rs145153467 0.00006
NM_000466.3(PEX1):c.1717A>G (p.Ser573Gly) rs774417644 0.00006
NM_000466.3(PEX1):c.2057A>G (p.Gln686Arg) rs201016626 0.00006
NM_000466.3(PEX1):c.2750C>T (p.Ala917Val) rs371327573 0.00006
NM_000466.3(PEX1):c.2842C>T (p.Arg948Trp) rs374167385 0.00006
NM_000466.3(PEX1):c.2843G>A (p.Arg948Gln) rs535271603 0.00006
NM_000466.3(PEX1):c.2927-12T>A rs375062546 0.00006
NM_000466.3(PEX1):c.674T>A (p.Ile225Asn) rs372485912 0.00006
NM_001127649.3(PEX26):c.*122A>C rs753279674 0.00006
NM_001127649.3(PEX26):c.*2479G>A rs537299090 0.00006
NM_001127649.3(PEX26):c.239A>T (p.Glu80Val) rs748579402 0.00006
NM_001127649.3(PEX26):c.496C>T (p.Arg166Trp) rs369695924 0.00006
NM_001127649.3(PEX26):c.904C>T (p.Arg302Cys) rs539155271 0.00006
NM_001351132.2(PEX5):c.*722G>A rs886049831 0.00006
NM_001351132.2(PEX5):c.1381T>A (p.Ser461Thr) rs369698308 0.00006
NM_001351132.2(PEX5):c.1800G>A (p.Ser600=) rs370306007 0.00006
NM_001351132.2(PEX5):c.1873G>A (p.Ala625Thr) rs143600154 0.00006
NM_001351132.2(PEX5):c.1902G>A (p.Met634Ile) rs145886418 0.00006
NM_001351132.2(PEX5):c.230G>A (p.Arg77His) rs780957318 0.00006
NM_001351132.2(PEX5):c.421T>G (p.Ser141Ala) rs200475014 0.00006
NM_002617.4(PEX10):c.*594C>T rs760677467 0.00006
NM_002617.4(PEX10):c.555C>T (p.His185=) rs75377471 0.00006
NM_002617.4(PEX10):c.605G>A (p.Arg202His) rs371979619 0.00006
NM_002617.4(PEX10):c.725G>A (p.Arg242Gln) rs142257121 0.00006
NM_002617.4(PEX10):c.752T>C (p.Leu251Pro) rs780507609 0.00006
NM_002617.4(PEX10):c.771C>T (p.His257=) rs776503441 0.00006
NM_002617.4(PEX10):c.821C>T (p.Thr274Ile) rs199683357 0.00006
NM_002617.4(PEX10):c.839G>A (p.Arg280His) rs758678654 0.00006
NM_002618.4(PEX13):c.1180A>T (p.Ile394Phe) rs376560254 0.00006
NM_002618.4(PEX13):c.677G>A (p.Arg226Gln) rs775953595 0.00006
NM_002857.4(PEX19):c.*1761C>A rs761868324 0.00006
NM_002857.4(PEX19):c.*2068T>C rs536872409 0.00006
NM_002857.4(PEX19):c.*427A>G rs886045447 0.00006
NM_002857.4(PEX19):c.347-7C>T rs753523567 0.00006
NM_002857.4(PEX19):c.488A>G (p.Asp163Gly) rs138174625 0.00006
NM_003659.4(AGPS):c.*1073T>C rs1026415952 0.00006
NM_003659.4(AGPS):c.*1424G>A rs975289225 0.00006
NM_003659.4(AGPS):c.*1628C>G rs535440679 0.00006
NM_003659.4(AGPS):c.*2311G>A rs528583770 0.00006
NM_003659.4(AGPS):c.*2667G>C rs571741614 0.00006
NM_003846.3(PEX11B):c.464G>A (p.Arg155Gln) rs369527712 0.00006
NM_004035.7(ACOX1):c.*2643C>T rs886053441 0.00006
NM_004035.7(ACOX1):c.1790C>T (p.Thr597Ile) rs376148124 0.00006
NM_004565.3(PEX14):c.26A>T (p.Gln9Leu) rs201979629 0.00006
NM_004565.3(PEX14):c.274C>G (p.Pro92Ala) rs199525137 0.00006
NM_004565.3(PEX14):c.577G>A (p.Ala193Thr) rs369625174 0.00006
NM_004565.3(PEX14):c.911A>T (p.Asp304Val) rs199860518 0.00006
NM_004813.4(PEX16):c.*341C>T rs559300237 0.00006
NM_004813.4(PEX16):c.*53C>G rs369974509 0.00006
NM_006214.4(PHYH):c.354C>G (p.Ile118Met) rs779724199 0.00006
NM_006214.4(PHYH):c.574G>A (p.Ala192Thr) rs751660253 0.00006
NM_014236.4(GNPAT):c.*123A>G rs537905640 0.00006
NM_014236.4(GNPAT):c.1007C>A (p.Ser336Tyr) rs373497748 0.00006
NM_014236.4(GNPAT):c.1031G>A (p.Arg344Gln) rs375611364 0.00006
NM_014236.4(GNPAT):c.1453C>T (p.Leu485=) rs370837823 0.00006
NM_014236.4(GNPAT):c.1810G>A (p.Val604Ile) rs552693336 0.00006
NM_014324.6(AMACR):c.*1353G>A rs886060525 0.00006
NM_014324.6(AMACR):c.*1560G>A rs886060524 0.00006
NM_014324.6(AMACR):c.247+9G>T rs1361255226 0.00006
NM_014324.6(AMACR):c.566C>A (p.Ala189Glu) rs367814719 0.00006
NM_014324.6(AMACR):c.785A>G (p.Asp262Gly) rs141025802 0.00006
NM_015294.6(TRIM37):c.2544G>A (p.Ala848=) rs532325984 0.00006
NM_000033.4(ABCD1):c.392G>T (p.Gly131Val) rs367799134 0.00005
NM_000286.3(PEX12):c.46G>A (p.Asp16Asn) rs979319729 0.00005
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.2459G>A (p.Gly820Glu) rs558030547 0.00005
NM_000287.4(PEX6):c.2662C>T (p.Arg888Cys) rs148251960 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_000287.4(PEX6):c.295C>T (p.Arg99Trp) rs772383329 0.00005
NM_000318.3(PEX2):c.*705T>A rs569163196 0.00005
NM_000414.4(HSD17B4):c.1000C>G (p.Pro334Ala) rs143750360 0.00005
NM_000414.4(HSD17B4):c.1357C>T (p.Leu453Phe) rs372898042 0.00005
NM_000414.4(HSD17B4):c.1566T>A (p.Ser522Arg) rs184492796 0.00005
NM_000414.4(HSD17B4):c.1660T>C (p.Ser554Pro) rs199659543 0.00005
NM_000466.3(PEX1):c.1441G>A (p.Val481Ile) rs139919229 0.00005
NM_000466.3(PEX1):c.147G>A (p.Val49=) rs202230667 0.00005
NM_000466.3(PEX1):c.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_001127649.3(PEX26):c.*1618G>C rs1358815707 0.00005
NM_001351132.2(PEX5):c.1273A>G (p.Thr425Ala) rs141202824 0.00005
NM_001351132.2(PEX5):c.1549G>A (p.Val517Ile) rs201596535 0.00005
NM_001351132.2(PEX5):c.1777C>T (p.Arg593Trp) rs144333076 0.00005
NM_001351132.2(PEX5):c.966+5G>A rs199705127 0.00005
NM_001351132.2(PEX5):c.967-15G>A rs201341037 0.00005
NM_002617.4(PEX10):c.428G>A (p.Arg143His) rs766596553 0.00005
NM_002617.4(PEX10):c.547T>G (p.Tyr183Asp) rs780485807 0.00005
NM_002617.4(PEX10):c.640C>T (p.Arg214Cys) rs536486149 0.00005
NM_002617.4(PEX10):c.711C>T (p.Tyr237=) rs761005209 0.00005
NM_002617.4(PEX10):c.960C>G (p.Ile320Met) rs371260973 0.00005
NM_002618.4(PEX13):c.*170C>G rs77041272 0.00005
NM_002618.4(PEX13):c.580C>T (p.Arg194Trp) rs774157693 0.00005
NM_002618.4(PEX13):c.661C>G (p.Leu221Val) rs192034592 0.00005
NM_002618.4(PEX13):c.880C>T (p.Arg294Trp) rs373118250 0.00005
NM_002857.4(PEX19):c.*1103C>T rs561417695 0.00005
NM_002857.4(PEX19):c.40G>C (p.Ala14Pro) rs747627762 0.00005
NM_003846.3(PEX11B):c.767G>A (p.Arg256Gln) rs200919340 0.00005
NM_004035.7(ACOX1):c.*1172A>T rs1280243706 0.00005
NM_004035.7(ACOX1):c.*1434C>T rs886053446 0.00005
NM_004035.7(ACOX1):c.*2746C>T rs1051899730 0.00005
NM_004035.7(ACOX1):c.*4820T>C rs938899521 0.00005
NM_004035.7(ACOX1):c.405T>C (p.Thr135=) rs142474717 0.00005
NM_004035.7(ACOX1):c.912C>T (p.Ser304=) rs144826451 0.00005
NM_004565.3(PEX14):c.412G>A (p.Gly138Ser) rs376462571 0.00005
NM_004565.3(PEX14):c.517G>T (p.Val173Phe) rs200019568 0.00005
NM_004565.3(PEX14):c.990G>T (p.Glu330Asp) rs145761201 0.00005
NM_004813.4(PEX16):c.1006G>C (p.Gly336Arg) rs767383372 0.00005
NM_006214.4(PHYH):c.*417A>G rs1302015884 0.00005
NM_014324.6(AMACR):c.*1931G>C rs563332854 0.00005
NM_014324.6(AMACR):c.1082G>A (p.Arg361His) rs374668256 0.00005
NM_014324.6(AMACR):c.511C>T (p.Arg171Cys) rs773780945 0.00005
NM_015294.6(TRIM37):c.*925G>T rs764131923 0.00005
NM_015294.6(TRIM37):c.-365G>A rs781390565 0.00005
NM_000030.3(AGXT):c.484G>A (p.Val162Met) rs147497484 0.00004
NM_000030.3(AGXT):c.795C>T (p.Pro265=) rs760015739 0.00004
NM_000030.3(AGXT):c.930C>T (p.Phe310=) rs886055842 0.00004
NM_000033.4(ABCD1):c.1141C>T (p.Arg381Cys) rs781983308 0.00004
NM_000033.4(ABCD1):c.2173G>A (p.Ala725Thr) rs782809184 0.00004
NM_000033.4(ABCD1):c.493C>T (p.Arg165Cys) rs781850760 0.00004
NM_000286.3(PEX12):c.*708G>A rs762099095 0.00004
NM_000286.3(PEX12):c.*922T>C rs886052823 0.00004
NM_000286.3(PEX12):c.661A>G (p.Met221Val) rs764839291 0.00004
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.1354C>T (p.Arg452Cys) rs762734034 0.00004
NM_000287.4(PEX6):c.187G>A (p.Gly63Ser) rs958375823 0.00004
NM_000287.4(PEX6):c.2357G>A (p.Arg786Gln) rs758572546 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.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.870G>C (p.Glu290Asp) rs150358700 0.00004
NM_000287.4(PEX6):c.939T>C (p.Pro313=) rs151234121 0.00004
NM_000288.4(PEX7):c.203A>T (p.Asp68Val) rs763388501 0.00004
NM_000288.4(PEX7):c.467G>A (p.Ser156Asn) rs1554331549 0.00004
NM_000288.4(PEX7):c.65C>T (p.Ala22Val) rs1052621653 0.00004
NM_000288.4(PEX7):c.77C>T (p.Pro26Leu) rs1003031615 0.00004
NM_000288.4(PEX7):c.804-5C>T rs369653173 0.00004
NM_000288.4(PEX7):c.886C>T (p.Leu296Phe) rs760967879 0.00004
NM_000288.4(PEX7):c.941A>G (p.Tyr314Cys) rs201106072 0.00004
NM_000318.2(PEX2):c.-367A>G rs886063144 0.00004
NM_000318.3(PEX2):c.*1331T>C rs950900674 0.00004
NM_000318.3(PEX2):c.*1602A>G rs557330187 0.00004
NM_000318.3(PEX2):c.*1808C>A rs980881594 0.00004
NM_000318.3(PEX2):c.*2294C>G rs763651452 0.00004
NM_000318.3(PEX2):c.*394T>C rs1010520129 0.00004
NM_000318.3(PEX2):c.139G>A (p.Gly47Arg) rs138590115 0.00004
NM_000318.3(PEX2):c.140G>C (p.Gly47Ala) rs750212948 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_000414.4(HSD17B4):c.1131C>T (p.Phe377=) rs200347945 0.00004
NM_000414.4(HSD17B4):c.1452A>G (p.Ile484Met) rs376158204 0.00004
NM_000414.4(HSD17B4):c.230A>G (p.Glu77Gly) rs769358132 0.00004
NM_000414.4(HSD17B4):c.566G>C (p.Cys189Ser) rs372914814 0.00004
NM_000466.3(PEX1):c.*133G>C rs886062500 0.00004
NM_000466.3(PEX1):c.*234T>C rs1004289500 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.2846G>A (p.Arg949Gln) rs61750425 0.00004
NM_000466.3(PEX1):c.611G>A (p.Arg204Lys) rs369126779 0.00004
NM_000466.3(PEX1):c.952G>A (p.Asp318Asn) rs754893068 0.00004
NM_001098537.3(PNPLA7):c.1889+1G>A rs767961762 0.00004
NM_001127649.3(PEX26):c.*1171G>A rs184116244 0.00004
NM_001127649.3(PEX26):c.*2369C>G rs971100485 0.00004
NM_001127649.3(PEX26):c.*912C>T rs79240512 0.00004
NM_001127649.3(PEX26):c.32C>T (p.Pro11Leu) rs200279475 0.00004
NM_001127649.3(PEX26):c.433C>A (p.Leu145Ile) rs774434641 0.00004
NM_001127649.3(PEX26):c.50G>A (p.Gly17Glu) rs757324021 0.00004
NM_001127649.3(PEX26):c.548G>A (p.Gly183Asp) rs146904462 0.00004
NM_001127649.3(PEX26):c.572G>A (p.Arg191Gln) rs750749018 0.00004
NM_001127649.3(PEX26):c.764G>A (p.Ser255Asn) rs770645243 0.00004
NM_001127649.3(PEX26):c.851C>T (p.Ala284Val) rs200004274 0.00004
NM_001351132.2(PEX5):c.-16-149A>G rs1355750608 0.00004
NM_001351132.2(PEX5):c.1033C>T (p.Arg345Cys) rs199822160 0.00004
NM_001351132.2(PEX5):c.1280G>A (p.Arg427Gln) rs774915360 0.00004
NM_001351132.2(PEX5):c.1352G>A (p.Gly451Glu) rs148266027 0.00004
NM_001351132.2(PEX5):c.1640G>A (p.Arg547Gln) rs371462892 0.00004
NM_001351132.2(PEX5):c.1768C>T (p.Arg590Trp) rs139347001 0.00004
NM_001351132.2(PEX5):c.1823G>A (p.Arg608His) rs201158549 0.00004
NM_001351132.2(PEX5):c.1874C>T (p.Ala625Val) rs773854263 0.00004
NM_001351132.2(PEX5):c.415G>C (p.Asp139His) rs375689941 0.00004
NM_001351132.2(PEX5):c.455T>G (p.Leu152Trp) rs370913045 0.00004
NM_001351132.2(PEX5):c.550T>C (p.Trp184Arg) rs998840500 0.00004
NM_002617.4(PEX10):c.*499G>A rs886046143 0.00004
NM_002617.4(PEX10):c.144G>A (p.Glu48=) rs141263967 0.00004
NM_002617.4(PEX10):c.247C>T (p.Arg83Trp) rs377135853 0.00004
NM_002617.4(PEX10):c.271C>T (p.Arg91Cys) rs747921371 0.00004
NM_002617.4(PEX10):c.407G>A (p.Arg136His) rs745469808 0.00004
NM_002617.4(PEX10):c.773G>A (p.Arg258His) rs773147980 0.00004
NM_002617.4(PEX10):c.776+5G>A rs747776170 0.00004
NM_002617.4(PEX10):c.959T>C (p.Ile320Thr) rs769097644 0.00004
NM_002618.4(PEX13):c.*2550G>A rs544817238 0.00004
NM_002618.4(PEX13):c.*3038A>T rs886056211 0.00004
NM_002618.4(PEX13):c.326G>A (p.Arg109His) rs372193938 0.00004
NM_002618.4(PEX13):c.353T>A (p.Phe118Tyr) rs749542687 0.00004
NM_002618.4(PEX13):c.435G>A (p.Met145Ile) rs1345774394 0.00004
NM_002857.4(PEX19):c.*662C>T rs773981843 0.00004
NM_002857.4(PEX19):c.193G>A (p.Ala65Thr) rs376013124 0.00004
NM_002857.4(PEX19):c.215A>G (p.Gln72Arg) rs543271441 0.00004
NM_002857.4(PEX19):c.619C>T (p.Arg207Trp) rs367813991 0.00004
NM_003630.3(PEX3):c.*573A>G rs886061135 0.00004
NM_003630.3(PEX3):c.-186C>T rs993758988 0.00004
NM_003630.3(PEX3):c.332-9T>A rs774963514 0.00004
NM_003659.4(AGPS):c.*3977T>G rs886055194 0.00004
NM_003659.4(AGPS):c.*794C>T rs912813369 0.00004
NM_003659.4(AGPS):c.1569A>G (p.Val523=) rs150977180 0.00004
NM_004035.7(ACOX1):c.*1809A>G rs548325591 0.00004
NM_004035.7(ACOX1):c.*1938C>T rs886053444 0.00004
NM_004035.7(ACOX1):c.*3628C>T rs1001514619 0.00004
NM_004035.7(ACOX1):c.*4021C>T rs536938567 0.00004
NM_004035.7(ACOX1):c.269+4909G>A rs140541455 0.00004
NM_004565.3(PEX14):c.1126C>T (p.Arg376Trp) rs765354583 0.00004
NM_004565.3(PEX14):c.112A>G (p.Asn38Asp) rs940853094 0.00004
NM_004565.3(PEX14):c.297C>T (p.Tyr99=) rs371473184 0.00004
NM_004565.3(PEX14):c.320G>A (p.Arg107Gln) rs774125017 0.00004
NM_004565.3(PEX14):c.860C>T (p.Thr287Met) rs376758920 0.00004
NM_004813.4(PEX16):c.209G>A (p.Arg70Gln) rs776600798 0.00004
NM_004813.4(PEX16):c.340G>A (p.Ala114Thr) rs374045163 0.00004
NM_004813.4(PEX16):c.421A>G (p.Ile141Val) rs761426585 0.00004
NM_004813.4(PEX16):c.475C>T (p.Pro159Ser) rs774416603 0.00004
NM_004813.4(PEX16):c.588G>C (p.Glu196Asp) rs759501669 0.00004
NM_004813.4(PEX16):c.616C>G (p.Leu206Val) rs375515674 0.00004
NM_004813.4(PEX16):c.768C>T (p.Ser256=) rs1173649955 0.00004
NM_014236.4(GNPAT):c.-6C>T rs370992541 0.00004
NM_014236.4(GNPAT):c.1713A>G (p.Gly571=) rs748279875 0.00004
NM_014236.4(GNPAT):c.917C>G (p.Ser306Cys) rs150822308 0.00004
NM_014236.4(GNPAT):c.988G>T (p.Asp330Tyr) rs201563848 0.00004
NM_014324.6(AMACR):c.*1862C>T rs1016774406 0.00004
NM_014324.6(AMACR):c.*540T>C rs146385238 0.00004
NM_014324.6(AMACR):c.100G>C (p.Val34Leu) rs377618695 0.00004
NM_014324.6(AMACR):c.514A>G (p.Thr172Ala) rs773084615 0.00004
NM_014324.6(AMACR):c.770A>G (p.Asn257Ser) rs781463041 0.00004
NM_014324.6(AMACR):c.857del (p.Ile286fs) rs772921347 0.00004
NM_014324.6(AMACR):c.874G>A (p.Ala292Thr) rs1253952136 0.00004
NM_015294.6(TRIM37):c.-244C>T rs991364571 0.00004
NM_015294.6(TRIM37):c.685T>A (p.Leu229Met) rs1334645336 0.00004
NM_000030.3(AGXT):c.1071+13G>A rs758413374 0.00003
NM_000030.3(AGXT):c.27C>A (p.Thr9=) rs180177188 0.00003
NM_000030.3(AGXT):c.551C>T (p.Ser184Leu) rs536205988 0.00003
NM_000030.3(AGXT):c.742G>T (p.Ala248Ser) rs180177260 0.00003
NM_000033.4(ABCD1):c.2032G>A (p.Gly678Ser) rs782608984 0.00003
NM_000286.3(PEX12):c.*433T>C rs886052829 0.00003
NM_000286.3(PEX12):c.-405C>G rs886052834 0.00003
NM_000286.3(PEX12):c.191C>T (p.Thr64Ile) rs766393993 0.00003
NM_000286.3(PEX12):c.20A>G (p.His7Arg) rs143621995 0.00003
NM_000286.3(PEX12):c.236G>C (p.Ser79Thr) rs771507228 0.00003
NM_000286.3(PEX12):c.907G>A (p.Val303Met) rs777654572 0.00003
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.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.185C>T (p.Ala62Val) rs991131935 0.00003
NM_000287.4(PEX6):c.1876C>T (p.Arg626Trp) rs374278186 0.00003
NM_000287.4(PEX6):c.2788G>T (p.Val930Phe) rs756296074 0.00003
NM_000287.4(PEX6):c.2866G>A (p.Ala956Thr) rs774145857 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_000287.4(PEX6):c.782C>T (p.Pro261Leu) rs753014991 0.00003
NM_000287.4(PEX6):c.904G>A (p.Ala302Thr) rs368503571 0.00003
NM_000288.4(PEX7):c.*223T>A rs774681133 0.00003
NM_000288.4(PEX7):c.576C>T (p.Ile192=) rs776411851 0.00003
NM_000288.4(PEX7):c.730G>A (p.Ala244Thr) rs375091907 0.00003
NM_000288.4(PEX7):c.803+5A>G rs759078908 0.00003
NM_000288.4(PEX7):c.86C>T (p.Pro29Leu) rs757852291 0.00003
NM_000288.4(PEX7):c.903+8A>G rs779919482 0.00003
NM_000318.3(PEX2):c.*1047T>A rs886063133 0.00003
NM_000318.3(PEX2):c.*2920_*2922del rs746335104 0.00003
NM_000318.3(PEX2):c.*437T>C rs1210536989 0.00003
NM_000318.3(PEX2):c.151C>T (p.Arg51Cys) rs147209403 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_000414.4(HSD17B4):c.*235T>C rs553631151 0.00003
NM_000414.4(HSD17B4):c.1327A>T (p.Met443Leu) rs201767875 0.00003
NM_000414.4(HSD17B4):c.1628G>A (p.Arg543His) rs201009485 0.00003
NM_000414.4(HSD17B4):c.482A>C (p.Gln161Pro) rs771009588 0.00003
NM_000414.4(HSD17B4):c.743G>A (p.Arg248His) rs748057401 0.00003
NM_000414.4(HSD17B4):c.815A>C (p.Asn272Thr) rs779675068 0.00003
NM_000466.3(PEX1):c.148G>A (p.Val50Ile) rs768702189 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.3068C>G (p.Ser1023Cys) rs547203417 0.00003
NM_000466.3(PEX1):c.3165A>G (p.Gln1055=) rs776231556 0.00003
NM_000466.3(PEX1):c.3344A>G (p.Glu1115Gly) rs762474729 0.00003
NM_000466.3(PEX1):c.544C>T (p.Arg182Cys) rs771535312 0.00003
NM_000466.3(PEX1):c.721T>C (p.Ser241Pro) rs753823218 0.00003
NM_000466.3(PEX1):c.889A>G (p.Ile297Val) rs181796768 0.00003
NM_001127649.3(PEX26):c.*2155A>G rs773334209 0.00003
NM_001127649.3(PEX26):c.*662C>T rs1197932567 0.00003
NM_001351132.2(PEX5):c.*1139T>C rs886049836 0.00003
NM_001351132.2(PEX5):c.-17+185T>C rs779168691 0.00003
NM_001351132.2(PEX5):c.1162G>T (p.Ala388Ser) rs1010839794 0.00003
NM_001351132.2(PEX5):c.1333G>C (p.Glu445Gln) rs1405389869 0.00003
NM_001351132.2(PEX5):c.1493T>G (p.Phe498Cys) rs772579298 0.00003
NM_001351132.2(PEX5):c.1637G>A (p.Arg546His) rs375588538 0.00003
NM_001351132.2(PEX5):c.1858T>C (p.Tyr620His) rs141242661 0.00003
NM_001351132.2(PEX5):c.1876C>T (p.Arg626Trp) rs148040746 0.00003
NM_001351132.2(PEX5):c.317-6T>C rs755945291 0.00003
NM_001351132.2(PEX5):c.473G>A (p.Arg158His) rs140456601 0.00003
NM_001351132.2(PEX5):c.551+15C>T rs886049825 0.00003
NM_001351132.2(PEX5):c.552-3C>T rs368653314 0.00003
NM_002617.4(PEX10):c.*16G>A rs886046146 0.00003
NM_002617.4(PEX10):c.*304C>T rs758081067 0.00003
NM_002617.4(PEX10):c.111G>T (p.Ala37=) rs1227962505 0.00003
NM_002617.4(PEX10):c.280G>A (p.Val94Met) rs142626035 0.00003
NM_002617.4(PEX10):c.446C>T (p.Thr149Met) rs764948458 0.00003
NM_002617.4(PEX10):c.601-75G>A rs369211467 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.758G>A (p.Arg253His) rs750769868 0.00003
NM_002617.4(PEX10):c.932G>A (p.Arg311Gln) rs724160001 0.00003
NM_002617.4(PEX10):c.979T>C (p.Ter327Arg) rs779199089 0.00003
NM_002618.4(PEX13):c.*1283C>G rs886056201 0.00003
NM_002618.4(PEX13):c.*1564C>G rs886056203 0.00003
NM_002618.4(PEX13):c.*1566A>T rs886056204 0.00003
NM_002618.4(PEX13):c.*2368T>C rs1033146733 0.00003
NM_002618.4(PEX13):c.*2642T>C rs886056209 0.00003
NM_002618.4(PEX13):c.1030G>A (p.Glu344Lys) rs550755703 0.00003
NM_002618.4(PEX13):c.199A>C (p.Ser67Arg) rs752073595 0.00003
NM_002618.4(PEX13):c.269A>G (p.Tyr90Cys) rs200928725 0.00003
NM_002618.4(PEX13):c.599G>A (p.Gly200Asp) rs753698277 0.00003
NM_002857.4(PEX19):c.*1592G>A rs779471097 0.00003
NM_002857.4(PEX19):c.*2555T>G rs148123121 0.00003
NM_002857.4(PEX19):c.*896A>G rs886045445 0.00003
NM_002857.4(PEX19):c.490G>A (p.Glu164Lys) rs370126224 0.00003
NM_002857.4(PEX19):c.670G>A (p.Val224Ile) rs372197333 0.00003
NM_002857.4(PEX19):c.763dup (p.Met255fs) rs267608186 0.00003
NM_002857.4(PEX19):c.856T>G (p.Ser286Ala) rs1272607089 0.00003
NM_002857.4(PEX19):c.863C>T (p.Pro288Leu) rs746472158 0.00003
NM_003630.3(PEX3):c.899G>A (p.Arg300Gln) rs200463608 0.00003
NM_003659.4(AGPS):c.*2088T>G rs529240564 0.00003
NM_003659.4(AGPS):c.*3060A>G rs886055192 0.00003
NM_003659.4(AGPS):c.1244C>T (p.Pro415Leu) rs144444120 0.00003
NM_003659.4(AGPS):c.1855+6C>A rs772552134 0.00003
NM_003659.4(AGPS):c.870G>A (p.Gln290=) rs534985206 0.00003
NM_003846.3(PEX11B):c.572G>A (p.Arg191Gln) rs376116716 0.00003
NM_004035.7(ACOX1):c.*1023A>C rs886053450 0.00003
NM_004035.7(ACOX1):c.*1743G>C rs530905223 0.00003
NM_004035.7(ACOX1):c.1068C>T (p.Asn356=) rs374533122 0.00003
NM_004035.7(ACOX1):c.122T>C (p.Leu41Pro) rs572633541 0.00003
NM_004035.7(ACOX1):c.1772G>A (p.Arg591His) rs369561903 0.00003
NM_004035.7(ACOX1):c.1944A>G (p.Glu648=) rs374691393 0.00003
NM_004035.7(ACOX1):c.825C>T (p.Tyr275=) rs542159010 0.00003
NM_004565.3(PEX14):c.*564C>T rs561807671 0.00003
NM_004565.3(PEX14):c.*7G>T rs367982022 0.00003
NM_004565.3(PEX14):c.1112G>A (p.Ser371Asn) rs1029768863 0.00003
NM_004565.3(PEX14):c.118C>T (p.Arg40Trp) rs770183471 0.00003
NM_004565.3(PEX14):c.304G>A (p.Ala102Thr) rs753731034 0.00003
NM_004565.3(PEX14):c.855C>G (p.Gly285=) rs201107513 0.00003
NM_004813.4(PEX16):c.*309G>C rs886048325 0.00003
NM_004813.4(PEX16):c.578A>G (p.Gln193Arg) rs761839307 0.00003
NM_004813.4(PEX16):c.643C>G (p.Leu215Val) rs773150003 0.00003
NM_004813.4(PEX16):c.844C>T (p.Leu282Phe) rs199767958 0.00003
NM_014236.4(GNPAT):c.-153A>C rs537119013 0.00003
NM_014324.6(AMACR):c.*1853G>A rs886060522 0.00003
NM_014324.6(AMACR):c.*760C>T rs991052989 0.00003
NM_014324.6(AMACR):c.1001C>T (p.Thr334Ile) rs368693738 0.00003
NM_014324.6(AMACR):c.818A>G (p.Asp273Gly) rs1049451904 0.00003
NM_014324.6(AMACR):c.848G>C (p.Trp283Ser) rs944463227 0.00003
NM_014324.6(AMACR):c.944T>A (p.Phe315Tyr) rs113361629 0.00003
NM_015294.6(TRIM37):c.*1030T>C rs186389005 0.00003
NM_015294.6(TRIM37):c.*1084C>T rs12451581 0.00003
NM_015294.6(TRIM37):c.2316A>G (p.Leu772=) rs765983264 0.00003
NM_015294.6(TRIM37):c.2543C>T (p.Ala848Val) rs770505316 0.00003
NM_015294.6(TRIM37):c.2776G>T (p.Asp926Tyr) rs375437566 0.00003
NM_017929.5(PEX26):c.-203G>A rs544836312 0.00003
NM_000030.3(AGXT):c.942+14T>G rs886055843 0.00002
NM_000033.4(ABCD1):c.*450T>A rs1479983733 0.00002
NM_000033.4(ABCD1):c.-10C>T rs782754717 0.00002
NM_000033.4(ABCD1):c.1082A>G (p.Asp361Gly) rs1557054156 0.00002
NM_000033.4(ABCD1):c.1327G>A (p.Ala443Thr) rs782647014 0.00002
NM_000033.4(ABCD1):c.1526A>G (p.Asn509Ser) rs782158792 0.00002
NM_000033.4(ABCD1):c.1790C>G (p.Ala597Gly) rs782065134 0.00002
NM_000033.4(ABCD1):c.199A>G (p.Met67Val) rs1057114018 0.00002
NM_000033.4(ABCD1):c.208G>A (p.Val70Ile) rs782701925 0.00002
NM_000033.4(ABCD1):c.386C>A (p.Ala129Asp) rs782359412 0.00002
NM_000033.4(ABCD1):c.389T>G (p.Phe130Cys) rs1557052334 0.00002
NM_000033.4(ABCD1):c.515G>A (p.Arg172His) rs541171928 0.00002
NM_000033.4(ABCD1):c.820C>T (p.Arg274Trp) rs782760033 0.00002
NM_000033.4(ABCD1):c.922C>T (p.Arg308Cys) rs782419107 0.00002
NM_000286.3(PEX12):c.*39G>A rs751033919 0.00002
NM_000286.3(PEX12):c.101G>A (p.Arg34Lys) rs770777877 0.00002
NM_000286.3(PEX12):c.166T>C (p.Trp56Arg) rs758005394 0.00002
NM_000286.3(PEX12):c.245T>G (p.Phe82Cys) rs140611267 0.00002
NM_000286.3(PEX12):c.294C>A (p.His98Gln) rs767354075 0.00002
NM_000286.3(PEX12):c.335A>G (p.Gln112Arg) rs376279395 0.00002
NM_000286.3(PEX12):c.349A>G (p.Ile117Val) rs767207001 0.00002
NM_000286.3(PEX12):c.352A>G (p.Met118Val) rs773708442 0.00002
NM_000286.3(PEX12):c.655A>G (p.Ser219Gly) rs773891359 0.00002
NM_000286.3(PEX12):c.724G>A (p.Gly242Ser) rs765982515 0.00002
NM_000286.3(PEX12):c.758T>C (p.Val253Ala) rs773962549 0.00002
NM_000286.3(PEX12):c.903G>C (p.Lys301Asn) rs145574816 0.00002
NM_000286.3(PEX12):c.905C>T (p.Thr302Ile) rs373860467 0.00002
NM_000286.3(PEX12):c.932G>A (p.Arg311Gln) rs780595864 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.1555C>T (p.Arg519Cys) rs924649541 0.00002
NM_000287.4(PEX6):c.1556G>A (p.Arg519His) rs368356719 0.00002
NM_000287.4(PEX6):c.1612C>T (p.Arg538Cys) rs374253469 0.00002
NM_000287.4(PEX6):c.1810A>G (p.Ile604Val) rs370855809 0.00002
NM_000287.4(PEX6):c.1992G>C (p.Glu664Asp) rs267608230 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.2210G>A (p.Arg737His) rs767654358 0.00002
NM_000287.4(PEX6):c.2254C>G (p.Leu752Val) rs374975985 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.2672A>G (p.Lys891Arg) rs886044685 0.00002
NM_000287.4(PEX6):c.2701G>A (p.Val901Met) rs766523042 0.00002
NM_000287.4(PEX6):c.2914C>T (p.Arg972Cys) rs761395988 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.743G>T (p.Arg248Leu) rs368481812 0.00002
NM_000287.4(PEX6):c.832G>A (p.Ala278Thr) rs370456987 0.00002
NM_000288.4(PEX7):c.244G>A (p.Val82Ile) rs770777194 0.00002
NM_000288.4(PEX7):c.413A>G (p.Lys138Arg) rs762113236 0.00002
NM_000288.4(PEX7):c.629A>G (p.Asn210Ser) rs753193218 0.00002
NM_000288.4(PEX7):c.769G>A (p.Val257Met) rs771916687 0.00002
NM_000288.4(PEX7):c.950C>T (p.Ala317Val) rs541306617 0.00002
NM_000318.3(PEX2):c.181T>C (p.Trp61Arg) rs772704218 0.00002
NM_000318.3(PEX2):c.257A>C (p.Lys86Thr) rs754127143 0.00002
NM_000318.3(PEX2):c.659T>G (p.Leu220Arg) rs773085309 0.00002
NM_000318.3(PEX2):c.892G>A (p.Glu298Lys) rs544763390 0.00002
NM_000414.4(HSD17B4):c.109G>A (p.Val37Ile) rs747214551 0.00002
NM_000414.4(HSD17B4):c.1213C>T (p.Leu405Phe) rs746616691 0.00002
NM_000414.4(HSD17B4):c.1418G>A (p.Arg473Gln) rs901553037 0.00002
NM_000414.4(HSD17B4):c.1528G>A (p.Asp510Asn) rs191468413 0.00002
NM_000414.4(HSD17B4):c.1663A>G (p.Arg555Gly) rs561555159 0.00002
NM_000414.4(HSD17B4):c.1857C>T (p.Gly619=) rs368565759 0.00002
NM_000414.4(HSD17B4):c.1858G>A (p.Gly620Arg) rs778265488 0.00002
NM_000414.4(HSD17B4):c.1881A>G (p.Val627=) rs201053163 0.00002
NM_000414.4(HSD17B4):c.2181G>C (p.Gln727His) rs776945690 0.00002
NM_000414.4(HSD17B4):c.241A>G (p.Lys81Glu) rs1026521515 0.00002
NM_000414.4(HSD17B4):c.268T>C (p.Phe90Leu) rs28943588 0.00002
NM_000414.4(HSD17B4):c.351T>A (p.Asp117Glu) rs200667890 0.00002
NM_000414.4(HSD17B4):c.353T>C (p.Ile118Thr) rs139427751 0.00002
NM_000414.4(HSD17B4):c.376G>A (p.Gly126Ser) rs769066826 0.00002
NM_000414.4(HSD17B4):c.943C>T (p.Arg315Cys) rs373503389 0.00002
NM_000466.3(PEX1):c.*180A>G rs996832628 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.1952_1960dup (p.Trp653_Met654insThrValTrp) rs398123408 0.00002
NM_000466.3(PEX1):c.2072C>T (p.Ala691Val) rs150351763 0.00002
NM_000466.3(PEX1):c.2455C>T (p.Arg819Cys) rs983157165 0.00002
NM_000466.3(PEX1):c.2708T>A (p.Ile903Lys) rs1305700033 0.00002
NM_000466.3(PEX1):c.3428C>G (p.Ser1143Cys) rs1198978658 0.00002
NM_000466.3(PEX1):c.3566C>T (p.Thr1189Ile) rs749324355 0.00002
NM_000466.3(PEX1):c.665C>T (p.Thr222Ile) rs773922257 0.00002
NM_001127649.3(PEX26):c.*1631G>T rs886057254 0.00002
NM_001127649.3(PEX26):c.*2651C>T rs963146393 0.00002
NM_001127649.3(PEX26):c.*2768C>T rs886057260 0.00002
NM_001127649.3(PEX26):c.*812C>T rs886057250 0.00002
NM_001127649.3(PEX26):c.120G>C (p.Glu40Asp) rs1010208134 0.00002
NM_001127649.3(PEX26):c.142C>T (p.His48Tyr) rs747831264 0.00002
NM_001127649.3(PEX26):c.153C>A (p.Phe51Leu) rs777633990 0.00002
NM_001127649.3(PEX26):c.208G>T (p.Val70Leu) rs766581207 0.00002
NM_001127649.3(PEX26):c.230+3A>G rs757200331 0.00002
NM_001127649.3(PEX26):c.23C>T (p.Ser8Phe) rs749146718 0.00002
NM_001127649.3(PEX26):c.38G>T (p.Arg13Met) rs1419370284 0.00002
NM_001127649.3(PEX26):c.427G>A (p.Ala143Thr) rs768857476 0.00002
NM_001127649.3(PEX26):c.461C>T (p.Pro154Leu) rs998546145 0.00002
NM_001127649.3(PEX26):c.524C>T (p.Ser175Leu) rs748291426 0.00002
NM_001127649.3(PEX26):c.52C>T (p.Pro18Ser) rs924635830 0.00002
NM_001127649.3(PEX26):c.53C>T (p.Pro18Leu) rs1295117804 0.00002
NM_001127649.3(PEX26):c.547G>A (p.Gly183Ser) rs535045097 0.00002
NM_001127649.3(PEX26):c.653A>G (p.Lys218Arg) rs773676634 0.00002
NM_001127649.3(PEX26):c.709C>T (p.Arg237Cys) rs575612663 0.00002
NM_001127649.3(PEX26):c.862C>T (p.Arg288Cys) rs764957881 0.00002
NM_001127649.3(PEX26):c.863G>A (p.Arg288His) rs370622812 0.00002
NM_001127649.3(PEX26):c.871C>T (p.Arg291Trp) rs576481410 0.00002
NM_001127649.3(PEX26):c.877G>A (p.Ala293Thr) rs1045236480 0.00002
NM_001351132.2(PEX5):c.115C>G (p.Pro39Ala) rs751937990 0.00002
NM_001351132.2(PEX5):c.1211C>T (p.Thr404Ile) rs751774861 0.00002
NM_001351132.2(PEX5):c.1259G>A (p.Arg420Gln) rs765532002 0.00002
NM_001351132.2(PEX5):c.1365C>A (p.Ser455Arg) rs1383386030 0.00002
NM_001351132.2(PEX5):c.1369C>T (p.Arg457Cys) rs199544306 0.00002
NM_001351132.2(PEX5):c.155A>G (p.Lys52Arg) rs764700965 0.00002
NM_001351132.2(PEX5):c.1607A>G (p.Asn536Ser) rs749417845 0.00002
NM_001351132.2(PEX5):c.164G>T (p.Gly55Val) rs752097814 0.00002
NM_001351132.2(PEX5):c.1769G>A (p.Arg590Gln) rs779049461 0.00002
NM_001351132.2(PEX5):c.1837A>G (p.Met613Val) rs765623850 0.00002
NM_001351132.2(PEX5):c.1900A>G (p.Met634Val) rs766669738 0.00002
NM_001351132.2(PEX5):c.273G>T (p.Met91Ile) rs761240813 0.00002
NM_001351132.2(PEX5):c.299G>A (p.Arg100His) rs757108771 0.00002
NM_001351132.2(PEX5):c.406A>G (p.Asn136Asp) rs766587819 0.00002
NM_001351132.2(PEX5):c.523G>A (p.Glu175Lys) rs1259114034 0.00002
NM_001351132.2(PEX5):c.527C>T (p.Pro176Leu) rs145613325 0.00002
NM_001351132.2(PEX5):c.664A>G (p.Ile222Val) rs778800705 0.00002
NM_001351132.2(PEX5):c.689A>C (p.Glu230Ala) rs140292053 0.00002
NM_001351132.2(PEX5):c.704C>T (p.Ser235Leu) rs752922748 0.00002
NM_001351132.2(PEX5):c.718G>C (p.Ala240Pro) rs778767381 0.00002
NM_001351132.2(PEX5):c.83A>G (p.Lys28Arg) rs759345862 0.00002
NM_001351132.2(PEX5):c.901C>T (p.Arg301Trp) rs767306549 0.00002
NM_001351132.2(PEX5):c.909T>C (p.Ala303=) rs376649488 0.00002
NM_001351132.2(PEX5):c.920C>T (p.Pro307Leu) rs1159586988 0.00002
NM_002617.4(PEX10):c.*905A>C rs1316891759 0.00002
NM_002617.4(PEX10):c.296A>G (p.His99Arg) rs764465144 0.00002
NM_002617.4(PEX10):c.364G>A (p.Asp122Asn) rs375855913 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.484C>T (p.Arg162Trp) rs570706924 0.00002
NM_002617.4(PEX10):c.556G>A (p.Gly186Ser) rs147848221 0.00002
NM_002617.4(PEX10):c.596C>T (p.Thr199Met) rs373559391 0.00002
NM_002617.4(PEX10):c.766T>A (p.Ser256Thr) rs532149116 0.00002
NM_002617.4(PEX10):c.779C>A (p.Ala260Asp) rs747171383 0.00002
NM_002617.4(PEX10):c.782C>G (p.Ser261Cys) rs1208669638 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_002617.4(PEX10):c.868C>G (p.His290Asp) rs61752094 0.00002
NM_002618.4(PEX13):c.*1533G>C rs886056202 0.00002
NM_002618.4(PEX13):c.*1925C>T rs1050392536 0.00002
NM_002618.4(PEX13):c.*2422T>G rs958254103 0.00002
NM_002618.4(PEX13):c.*3050C>T rs1246216348 0.00002
NM_002618.4(PEX13):c.1093A>G (p.Thr365Ala) rs753444647 0.00002
NM_002618.4(PEX13):c.1136C>T (p.Ser379Phe) rs758388660 0.00002
NM_002618.4(PEX13):c.11A>C (p.Gln4Pro) rs1171979724 0.00002
NM_002618.4(PEX13):c.205A>T (p.Asn69Tyr) rs1338444377 0.00002
NM_002618.4(PEX13):c.260A>G (p.Asn87Ser) rs367843599 0.00002
NM_002618.4(PEX13):c.320G>A (p.Arg107His) rs766710343 0.00002
NM_002618.4(PEX13):c.589C>T (p.Arg197Trp) rs903847229 0.00002
NM_002618.4(PEX13):c.595T>A (p.Leu199Ile) rs565873587 0.00002
NM_002618.4(PEX13):c.62G>A (p.Gly21Glu) rs1249025009 0.00002
NM_002618.4(PEX13):c.767C>T (p.Thr256Ile) rs985608709 0.00002
NM_002618.4(PEX13):c.881G>A (p.Arg294Gln) rs377426614 0.00002
NM_002618.4(PEX13):c.931C>T (p.Arg311Cys) rs376720470 0.00002
NM_002618.4(PEX13):c.932G>A (p.Arg311His) rs147344836 0.00002
NM_002857.3(PEX19):c.-17A>C rs748844578 0.00002
NM_002857.4(PEX19):c.*2383C>G rs369641116 0.00002
NM_002857.4(PEX19):c.143C>T (p.Ser48Leu) rs375153087 0.00002
NM_002857.4(PEX19):c.17A>G (p.Glu6Gly) rs181602818 0.00002
NM_002857.4(PEX19):c.272T>C (p.Met91Thr) rs747047470 0.00002
NM_002857.4(PEX19):c.435C>A (p.Asn145Lys) rs771657561 0.00002
NM_002857.4(PEX19):c.553A>G (p.Lys185Glu) rs765741144 0.00002
NM_002857.4(PEX19):c.696T>A (p.Phe232Leu) rs753324166 0.00002
NM_002857.4(PEX19):c.700G>T (p.Ala234Ser) rs760726802 0.00002
NM_003630.3(PEX3):c.96T>C (p.Tyr32=) rs201718910 0.00002
NM_003659.4(AGPS):c.*513T>C rs886055172 0.00002
NM_003659.4(AGPS):c.1135A>G (p.Ile379Val) rs867493363 0.00002
NM_003659.4(AGPS):c.1245G>A (p.Pro415=) rs200344160 0.00002
NM_003846.3(PEX11B):c.685C>T (p.Arg229Cys) rs145202646 0.00002
NM_004035.7(ACOX1):c.*1034T>G rs886053449 0.00002
NM_004035.7(ACOX1):c.*3105C>T rs951128230 0.00002
NM_004035.7(ACOX1):c.*3621C>G rs886053438 0.00002
NM_004035.7(ACOX1):c.*3944G>A rs1020872917 0.00002
NM_004035.7(ACOX1):c.*4489C>T rs1251345653 0.00002
NM_004035.7(ACOX1):c.*720C>T rs531041128 0.00002
NM_004035.7(ACOX1):c.*721A>G rs561931985 0.00002
NM_004035.7(ACOX1):c.*840A>T rs997501157 0.00002
NM_004035.7(ACOX1):c.1123G>A (p.Ala375Thr) rs767935600 0.00002
NM_004035.7(ACOX1):c.361G>A (p.Glu121Lys) rs764762697 0.00002
NM_004035.7(ACOX1):c.510G>A (p.Val170=) rs752375436 0.00002
NM_004565.3(PEX14):c.1128G>C (p.Arg376=) rs772300180 0.00002
NM_004565.3(PEX14):c.14A>G (p.Glu5Gly) rs932921080 0.00002
NM_004565.3(PEX14):c.568G>A (p.Glu190Lys) rs144362955 0.00002
NM_004565.3(PEX14):c.824C>T (p.Ser275Leu) rs727504081 0.00002
NM_004565.3(PEX14):c.931A>T (p.Met311Leu) rs761789278 0.00002
NM_004813.4(PEX16):c.13C>T (p.Arg5Trp) rs768102300 0.00002
NM_004813.4(PEX16):c.147G>A (p.Leu49=) rs944696367 0.00002
NM_004813.4(PEX16):c.149-13C>G rs369471815 0.00002
NM_004813.4(PEX16):c.274G>A (p.Val92Met) rs764174581 0.00002
NM_004813.4(PEX16):c.419C>G (p.Pro140Arg) rs764641368 0.00002
NM_004813.4(PEX16):c.472A>G (p.Ser158Gly) rs1394054374 0.00002
NM_004813.4(PEX16):c.592C>T (p.Arg198Trp) rs774218187 0.00002
NM_004813.4(PEX16):c.593G>A (p.Arg198Gln) rs1319561377 0.00002
NM_004813.4(PEX16):c.609C>T (p.His203=) rs537046144 0.00002
NM_004813.4(PEX16):c.694+11C>T rs763840804 0.00002
NM_004813.4(PEX16):c.699C>T (p.Leu233=) rs781411790 0.00002
NM_004813.4(PEX16):c.803G>A (p.Arg268Gln) rs376763841 0.00002
NM_004813.4(PEX16):c.811C>T (p.Arg271Trp) rs777810731 0.00002
NM_004813.4(PEX16):c.937G>A (p.Val313Ile) rs747521980 0.00002
NM_006214.4(PHYH):c.83A>G (p.His28Arg) rs778011598 0.00002
NM_014236.4(GNPAT):c.1648C>G (p.Gln550Glu) rs761578510 0.00002
NM_014236.4(GNPAT):c.2021A>T (p.Lys674Ile) rs756465630 0.00002
NM_014236.4(GNPAT):c.706G>C (p.Ala236Pro) rs758663178 0.00002
NM_014236.4(GNPAT):c.798A>G (p.Pro266=) rs371142386 0.00002
NM_014236.4(GNPAT):c.924+4C>T rs372291680 0.00002
NM_014324.6(AMACR):c.240C>G (p.Phe80Leu) rs1044437141 0.00002
NM_014324.6(AMACR):c.265C>T (p.Gln89Ter) rs149566702 0.00002
NM_014324.6(AMACR):c.625G>C (p.Gly209Arg) rs377130820 0.00002
NM_014324.6(AMACR):c.635T>C (p.Met212Thr) rs145475619 0.00002
NM_014324.6(AMACR):c.865G>A (p.Gly289Ser) rs766952450 0.00002
NM_014324.6(AMACR):c.868A>G (p.Thr290Ala) rs759217337 0.00002
NM_014324.6(AMACR):c.86C>G (p.Ala29Gly) rs773277129 0.00002
NM_015294.6(TRIM37):c.*598C>T rs926813788 0.00002
NM_015294.6(TRIM37):c.-230C>T rs886053180 0.00002
NM_015294.6(TRIM37):c.1200-11A>G rs781195873 0.00002
NM_015294.6(TRIM37):c.2280G>A (p.Ser760=) rs767616734 0.00002
NM_015294.6(TRIM37):c.2282C>T (p.Pro761Leu) rs773999459 0.00002
NM_015294.6(TRIM37):c.689G>A (p.Arg230Gln) rs370363504 0.00002
NM_000030.3(AGXT):c.*285G>A rs567385270 0.00001
NM_000030.3(AGXT):c.*52C>G rs547538869 0.00001
NM_000030.3(AGXT):c.1019T>C (p.Ile340Thr) rs749568989 0.00001
NM_000030.3(AGXT):c.1174C>T (p.Leu392=) rs180177167 0.00001
NM_000030.3(AGXT):c.172G>A (p.Asp58Asn) rs774651961 0.00001
NM_000030.3(AGXT):c.286C>G (p.Pro96Ala) rs1334695460 0.00001
NM_000030.3(AGXT):c.296C>A (p.Ser99Tyr) rs180177192 0.00001
NM_000030.3(AGXT):c.40C>T (p.Leu14=) rs2058975287 0.00001
NM_000030.3(AGXT):c.497T>C (p.Leu166Pro) rs180177230 0.00001
NM_000030.3(AGXT):c.510G>A (p.Gly170=) rs965707125 0.00001
NM_000030.3(AGXT):c.537G>C (p.Leu179=) rs565927450 0.00001
NM_000030.3(AGXT):c.601G>A (p.Asp201Asn) rs886055840 0.00001
NM_000030.3(AGXT):c.676G>A (p.Ala226Thr) rs749577985 0.00001
NM_000030.3(AGXT):c.70C>A (p.Leu24Ile) rs754037121 0.00001
NM_000030.3(AGXT):c.743C>T (p.Ala248Val) rs372482918 0.00001
NM_000030.3(AGXT):c.846+5A>G rs200916936 0.00001
NM_000030.3(AGXT):c.882C>T (p.Ala294=) rs757494386 0.00001
NM_000030.3(AGXT):c.901C>T (p.Arg301Cys) rs886055841 0.00001
NM_000030.3(AGXT):c.942G>A (p.Pro314=) rs553429935 0.00001
NM_000033.4(ABCD1):c.*287G>A rs1169661425 0.00001
NM_000033.4(ABCD1):c.*360C>T rs1281220823 0.00001
NM_000033.4(ABCD1):c.*530G>A rs67211405 0.00001
NM_000033.4(ABCD1):c.*621C>T rs1383766741 0.00001
NM_000033.4(ABCD1):c.1138G>A (p.Glu380Lys) rs782007706 0.00001
NM_000033.4(ABCD1):c.1156A>T (p.Thr386Ser) rs1205548762 0.00001
NM_000033.4(ABCD1):c.1165C>T (p.Arg389Cys) rs128624215 0.00001
NM_000033.4(ABCD1):c.1181C>T (p.Ala394Val) rs1324874967 0.00001
NM_000033.4(ABCD1):c.1253G>A (p.Arg418Gln) rs1046633404 0.00001
NM_000033.4(ABCD1):c.1260C>A (p.His420Gln) rs782066367 0.00001
NM_000033.4(ABCD1):c.1261G>A (p.Glu421Lys) rs1255903649 0.00001
NM_000033.4(ABCD1):c.1369G>C (p.Val457Leu) rs781866876 0.00001
NM_000033.4(ABCD1):c.1415A>G (p.Gln472Arg) rs1569541033 0.00001
NM_000033.4(ABCD1):c.1452C>G (p.Pro484=) rs782546330 0.00001
NM_000033.4(ABCD1):c.1893C>T (p.Cys631=) rs1557055319 0.00001
NM_000033.4(ABCD1):c.1915G>A (p.Val639Met) rs782706738 0.00001
NM_000033.4(ABCD1):c.2111C>T (p.Ala704Val) rs782740513 0.00001
NM_000033.4(ABCD1):c.2131C>T (p.Arg711Trp) rs782583464 0.00001
NM_000033.4(ABCD1):c.2134C>T (p.Arg712Cys) rs1557055441 0.00001
NM_000033.4(ABCD1):c.2189C>T (p.Pro730Leu) rs375489051 0.00001
NM_000033.4(ABCD1):c.2209C>T (p.Pro737Ser) rs1290462360 0.00001
NM_000033.4(ABCD1):c.326T>C (p.Val109Ala) rs782138372 0.00001
NM_000033.4(ABCD1):c.337C>T (p.Arg113Cys) rs1557052306 0.00001
NM_000033.4(ABCD1):c.508G>A (p.Ala170Thr) rs782293513 0.00001
NM_000033.4(ABCD1):c.673A>G (p.Thr225Ala) rs1557052459 0.00001
NM_000033.4(ABCD1):c.692G>A (p.Arg231Gln) rs782143050 0.00001
NM_000033.4(ABCD1):c.739G>A (p.Ala247Thr) rs782487174 0.00001
NM_000033.4(ABCD1):c.756C>A (p.Phe252Leu) rs200849757 0.00001
NM_000033.4(ABCD1):c.776G>A (p.Arg259Gln) rs200191405 0.00001
NM_000033.4(ABCD1):c.809C>T (p.Ala270Val) rs781970988 0.00001
NM_000033.4(ABCD1):c.818C>T (p.Ala273Val) rs868992338 0.00001
NM_000033.4(ABCD1):c.881C>T (p.Ala294Val) rs2091712106 0.00001
NM_000286.3(PEX12):c.*109A>G rs996017117 0.00001
NM_000286.3(PEX12):c.*335T>C rs886052830 0.00001
NM_000286.3(PEX12):c.*411A>C rs2072778672 0.00001
NM_000286.3(PEX12):c.*532A>G rs886052826 0.00001
NM_000286.3(PEX12):c.1009C>T (p.Gln337Ter) rs760739894 0.00001
NM_000286.3(PEX12):c.1021A>T (p.Ile341Phe) rs772028045 0.00001
NM_000286.3(PEX12):c.1042G>A (p.Val348Ile) rs2072781156 0.00001
NM_000286.3(PEX12):c.126+6G>A rs1342667188 0.00001
NM_000286.3(PEX12):c.174G>T (p.Trp58Cys) rs1167729519 0.00001
NM_000286.3(PEX12):c.182_184dup (p.Glu61_Ile62insLys) rs1412916235 0.00001
NM_000286.3(PEX12):c.237T>A (p.Ser79Arg) rs773576922 0.00001
NM_000286.3(PEX12):c.263G>C (p.Gly88Ala) rs1195136213 0.00001
NM_000286.3(PEX12):c.295A>G (p.Lys99Glu) rs1003905752 0.00001
NM_000286.3(PEX12):c.301C>G (p.Gln101Glu) rs1316034375 0.00001
NM_000286.3(PEX12):c.319G>C (p.Gly107Arg) rs371014792 0.00001
NM_000286.3(PEX12):c.421G>A (p.Asp141Asn) rs1260902616 0.00001
NM_000286.3(PEX12):c.431C>T (p.Ser144Phe) rs988442642 0.00001
NM_000286.3(PEX12):c.435T>G (p.Ile145Met) rs956055423 0.00001
NM_000286.3(PEX12):c.442C>T (p.Pro148Ser) rs1324878121 0.00001
NM_000286.3(PEX12):c.539G>A (p.Arg180Gln) rs745420734 0.00001
NM_000286.3(PEX12):c.53C>T (p.Pro18Leu) rs750863211 0.00001
NM_000286.3(PEX12):c.551G>A (p.Gly184Glu) rs1241662407 0.00001
NM_000286.3(PEX12):c.55T>C (p.Ser19Pro) rs756812775 0.00001
NM_000286.3(PEX12):c.601G>T (p.Gly201Cys) rs767608984 0.00001
NM_000286.3(PEX12):c.616C>A (p.Gln206Lys) rs786205502 0.00001
NM_000286.3(PEX12):c.628G>T (p.Ala210Ser) rs763285439 0.00001
NM_000286.3(PEX12):c.671C>G (p.Pro224Arg) rs984673169 0.00001
NM_000286.3(PEX12):c.734T>C (p.Leu245Ser) rs1364396743 0.00001
NM_000286.3(PEX12):c.73G>C (p.Ala25Pro) rs762591605 0.00001
NM_000286.3(PEX12):c.785_787del (p.Asp262_Trp263delinsGly) rs759584047 0.00001
NM_000286.3(PEX12):c.830C>T (p.Thr277Ile) rs1398163895 0.00001
NM_000286.3(PEX12):c.847C>T (p.Pro283Ser) rs753527027 0.00001
NM_000286.3(PEX12):c.856G>A (p.Val286Ile) rs766182813 0.00001
NM_000286.3(PEX12):c.899T>C (p.Met300Thr) rs776806092 0.00001
NM_000286.3(PEX12):c.8A>G (p.Glu3Gly) rs769571282 0.00001
NM_000286.3(PEX12):c.913C>G (p.Pro305Ala) rs1444133628 0.00001
NM_000286.3(PEX12):c.940G>C (p.Asp314His) rs1366482320 0.00001
NM_000286.3(PEX12):c.946G>C (p.Val316Leu) rs750097322 0.00001
NM_000286.3(PEX12):c.997G>T (p.Val333Leu) rs762912502 0.00001
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.1033T>A (p.Phe345Ile) rs1770222482 0.00001
NM_000287.4(PEX6):c.1085T>C (p.Ile362Thr) rs571650965 0.00001
NM_000287.4(PEX6):c.1130+2T>C rs1416001981 0.00001
NM_000287.4(PEX6):c.1145T>C (p.Phe382Ser) rs762401493 0.00001
NM_000287.4(PEX6):c.1233+3G>A rs955591362 0.00001
NM_000287.4(PEX6):c.1236G>A (p.Val412=) rs1196012985 0.00001
NM_000287.4(PEX6):c.1267C>G (p.Pro423Ala) rs774044599 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.1365A>G (p.Pro455=) rs759402659 0.00001
NM_000287.4(PEX6):c.1367+10G>A rs776610051 0.00001
NM_000287.4(PEX6):c.140C>T (p.Pro47Leu) rs1299683224 0.00001
NM_000287.4(PEX6):c.1417G>A (p.Gly473Ser) rs774874010 0.00001
NM_000287.4(PEX6):c.1453A>G (p.Ser485Gly) rs1211744219 0.00001
NM_000287.4(PEX6):c.1484C>G (p.Pro495Arg) rs762174122 0.00001
NM_000287.4(PEX6):c.1511G>A (p.Ser504Asn) rs770340288 0.00001
NM_000287.4(PEX6):c.1558C>T (p.Arg520Cys) rs530370123 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.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.1747G>A (p.Val583Met) rs750996699 0.00001
NM_000287.4(PEX6):c.1801C>T (p.Arg601Trp) rs61753225 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.1884A>G (p.Ala628=) rs779124738 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.1931G>A (p.Arg644Gln) rs746117128 0.00001
NM_000287.4(PEX6):c.1943C>T (p.Thr648Ile) rs1439667922 0.00001
NM_000287.4(PEX6):c.1958C>T (p.Ser653Leu) rs267608228 0.00001
NM_000287.4(PEX6):c.1961+4A>C rs748621080 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.2078C>A (p.Ala693Asp) rs748535121 0.00001
NM_000287.4(PEX6):c.2094+6G>A rs1009420665 0.00001
NM_000287.4(PEX6):c.2108C>T (p.Ser703Phe) rs1390565278 0.00001
NM_000287.4(PEX6):c.2142G>T (p.Lys714Asn) rs371619603 0.00001
NM_000287.4(PEX6):c.2157G>C (p.Glu719Asp) rs1385321266 0.00001
NM_000287.4(PEX6):c.2177A>C (p.Glu726Ala) rs1250862310 0.00001
NM_000287.4(PEX6):c.2204T>C (p.Leu735Pro) rs920798728 0.00001
NM_000287.4(PEX6):c.2209C>T (p.Arg737Cys) rs148562506 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.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.2362G>A (p.Val788Met) rs267608240 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.2547C>T (p.Asn849=) rs1171568759 0.00001
NM_000287.4(PEX6):c.2585G>T (p.Gly862Val) rs764227040 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.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.2729C>T (p.Thr910Met) rs762089817 0.00001
NM_000287.4(PEX6):c.2805A>G (p.Glu935=) rs918460295 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.2885T>C (p.Val962Ala) rs1361796630 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.340C>T (p.Pro114Ser) rs1561831093 0.00001
NM_000287.4(PEX6):c.358G>A (p.Val120Ile) rs918929371 0.00001
NM_000287.4(PEX6):c.400C>G (p.Pro134Ala) rs760985292 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.460C>G (p.Arg154Gly) rs746681634 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.533C>G (p.Pro178Arg) rs1303061971 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.719C>G (p.Ala240Gly) rs372269200 0.00001
NM_000287.4(PEX6):c.757G>A (p.Asp253Asn) rs1259137255 0.00001
NM_000287.4(PEX6):c.773G>C (p.Gly258Ala) rs1030087734 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_000288.4(PEX7):c.-28G>A rs376808803 0.00001
NM_000288.4(PEX7):c.115C>A (p.His39Asn) rs1316023843 0.00001
NM_000288.4(PEX7):c.129G>C (p.Ala43=) rs1256466654 0.00001
NM_000288.4(PEX7):c.130+6G>C rs1299374519 0.00001
NM_000288.4(PEX7):c.167C>G (p.Ala56Gly) rs765902458 0.00001
NM_000288.4(PEX7):c.17G>C (p.Gly6Ala) rs1774097181 0.00001
NM_000288.4(PEX7):c.193G>A (p.Asp65Asn) rs1229970963 0.00001
NM_000288.4(PEX7):c.290C>G (p.Thr97Ser) rs1391235393 0.00001
NM_000288.4(PEX7):c.296A>G (p.Lys99Arg) rs367806635 0.00001
NM_000288.4(PEX7):c.347G>T (p.Ser116Ile) rs1181412133 0.00001
NM_000288.4(PEX7):c.373G>A (p.Glu125Lys) rs769137963 0.00001
NM_000288.4(PEX7):c.442C>G (p.Leu148Val) rs752606372 0.00001
NM_000288.4(PEX7):c.496C>T (p.His166Tyr) rs1219430310 0.00001
NM_000288.4(PEX7):c.525A>G (p.Ser175=) rs771080595 0.00001
NM_000288.4(PEX7):c.534G>C (p.Gln178His) rs746010906 0.00001
NM_000288.4(PEX7):c.554T>C (p.Val185Ala) rs1424846175 0.00001
NM_000288.4(PEX7):c.611G>A (p.Cys204Tyr) rs368435862 0.00001
NM_000288.4(PEX7):c.701C>T (p.Pro234Leu) rs759158962 0.00001
NM_000288.4(PEX7):c.737G>A (p.Arg246Lys) rs780186421 0.00001
NM_000288.4(PEX7):c.748-10T>C rs886061122 0.00001
NM_000288.4(PEX7):c.782G>A (p.Cys261Tyr) rs770301248 0.00001
NM_000288.4(PEX7):c.785C>T (p.Ser262Leu) rs62653610 0.00001
NM_000288.4(PEX7):c.803+4C>G rs759745913 0.00001
NM_000288.4(PEX7):c.843A>G (p.Thr281=) rs767903764 0.00001
NM_000288.4(PEX7):c.903+6G>A rs758226348 0.00001
NM_000288.4(PEX7):c.946C>T (p.Pro316Ser) rs746310299 0.00001
NM_000288.4(PEX7):c.961A>G (p.Ile321Val) rs879706210 0.00001
NM_000288.4(PEX7):c.96G>A (p.Leu32=) rs1397119638 0.00001
NM_000318.3(PEX2):c.*1581T>A rs1214852177 0.00001
NM_000318.3(PEX2):c.*2456C>T rs1461205423 0.00001
NM_000318.3(PEX2):c.*2787G>A rs886063123 0.00001
NM_000318.3(PEX2):c.*324G>T rs886063137 0.00001
NM_000318.3(PEX2):c.*498G>A rs541772029 0.00001
NM_000318.3(PEX2):c.*773T>G rs927177664 0.00001
NM_000318.3(PEX2):c.*91A>G rs886063139 0.00001
NM_000318.3(PEX2):c.-17-2A>G rs1289852067 0.00001
NM_000318.3(PEX2):c.-178C>T rs886063141 0.00001
NM_000318.3(PEX2):c.112A>G (p.Thr38Ala) rs935435870 0.00001
NM_000318.3(PEX2):c.129A>G (p.Gly43=) rs779946897 0.00001
NM_000318.3(PEX2):c.173C>T (p.Ala58Val) rs760636932 0.00001
NM_000318.3(PEX2):c.195G>T (p.Trp65Cys) rs771377186 0.00001
NM_000318.3(PEX2):c.205A>G (p.Ile69Val) rs747866716 0.00001
NM_000318.3(PEX2):c.206T>C (p.Ile69Thr) rs1180720095 0.00001
NM_000318.3(PEX2):c.226G>T (p.Val76Leu) rs1429397131 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.335G>C (p.Gly112Ala) rs745832638 0.00001
NM_000318.3(PEX2):c.456T>G (p.Ile152Met) rs1475014070 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.481G>A (p.Gly161Arg) rs377669414 0.00001
NM_000318.3(PEX2):c.482G>A (p.Gly161Glu) rs761177481 0.00001
NM_000318.3(PEX2):c.517A>G (p.Ile173Val) rs773748299 0.00001
NM_000318.3(PEX2):c.524C>G (p.Ser175Cys) rs770427885 0.00001
NM_000318.3(PEX2):c.577A>G (p.Arg193Gly) rs1806905614 0.00001
NM_000318.3(PEX2):c.635A>G (p.Asn212Ser) rs764386648 0.00001
NM_000318.3(PEX2):c.666A>G (p.Ser222=) rs1806901488 0.00001
NM_000318.3(PEX2):c.703A>G (p.Asn235Asp) rs1345316527 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_000318.3(PEX2):c.782A>G (p.His261Arg) rs749956542 0.00001
NM_000318.3(PEX2):c.869T>G (p.Leu290Arg) rs756496949 0.00001
NM_000318.3(PEX2):c.916T>C (p.Ter306Gln) rs1554584372 0.00001
NM_000414.4(HSD17B4):c.*123A>G rs956800775 0.00001
NM_000414.4(HSD17B4):c.1019C>T (p.Thr340Met) rs201568834 0.00001
NM_000414.4(HSD17B4):c.101C>T (p.Ala34Val) rs587777442 0.00001
NM_000414.4(HSD17B4):c.1090A>G (p.Ile364Val) rs757346346 0.00001
NM_000414.4(HSD17B4):c.1154C>A (p.Ser385Tyr) rs1368714235 0.00001
NM_000414.4(HSD17B4):c.1263A>G (p.Gly421=) rs764406724 0.00001
NM_000414.4(HSD17B4):c.1436A>G (p.Lys479Arg) rs1318841272 0.00001
NM_000414.4(HSD17B4):c.1552C>T (p.Pro518Ser) rs757297524 0.00001
NM_000414.4(HSD17B4):c.1596T>C (p.His532=) rs758045328 0.00001
NM_000414.4(HSD17B4):c.160G>A (p.Ala54Thr) rs758207228 0.00001
NM_000414.4(HSD17B4):c.163G>A (p.Ala55Thr) rs780149071 0.00001
NM_000414.4(HSD17B4):c.1657G>A (p.Val553Met) rs149141475 0.00001
NM_000414.4(HSD17B4):c.1699G>A (p.Val567Ile) rs775795599 0.00001
NM_000414.4(HSD17B4):c.1700T>C (p.Val567Ala) rs763390035 0.00001
NM_000414.4(HSD17B4):c.175G>A (p.Val59Ile) rs375339818 0.00001
NM_000414.4(HSD17B4):c.1854+7T>C rs886059822 0.00001
NM_000414.4(HSD17B4):c.1875C>G (p.Thr625=) rs745478996 0.00001
NM_000414.4(HSD17B4):c.1876T>G (p.Phe626Val) rs1385683079 0.00001
NM_000414.4(HSD17B4):c.1898G>A (p.Arg633His) rs754096002 0.00001
NM_000414.4(HSD17B4):c.1934A>C (p.Lys645Thr) rs368915056 0.00001
NM_000414.4(HSD17B4):c.1970G>A (p.Gly657Asp) rs141219265 0.00001
NM_000414.4(HSD17B4):c.1992G>C (p.Trp664Cys) rs752858179 0.00001
NM_000414.4(HSD17B4):c.2025G>A (p.Val675=) rs763204818 0.00001
NM_000414.4(HSD17B4):c.2033G>A (p.Gly678Asp) rs1456658488 0.00001
NM_000414.4(HSD17B4):c.2116C>T (p.Gln706Ter) rs771510541 0.00001
NM_000414.4(HSD17B4):c.2122-2A>G rs1341761252 0.00001
NM_000414.4(HSD17B4):c.2138G>A (p.Arg713Lys) rs149776885 0.00001
NM_000414.4(HSD17B4):c.2180A>G (p.Gln727Arg) rs766910805 0.00001
NM_000414.4(HSD17B4):c.220+3A>G rs759069970 0.00001
NM_000414.4(HSD17B4):c.278T>C (p.Ile93Thr) rs544455125 0.00001
NM_000414.4(HSD17B4):c.571A>G (p.Thr191Ala) rs1397379413 0.00001
NM_000414.4(HSD17B4):c.58+121A>G rs775377217 0.00001
NM_000414.4(HSD17B4):c.58+123G>C rs762157656 0.00001
NM_000414.4(HSD17B4):c.614T>C (p.Met205Thr) rs761601392 0.00001
NM_000414.4(HSD17B4):c.766A>G (p.Ile256Val) rs768345875 0.00001
NM_000414.4(HSD17B4):c.782A>C (p.Asn261Thr) rs763121959 0.00001
NM_000414.4(HSD17B4):c.811G>A (p.Ala271Thr) rs543710228 0.00001
NM_000414.4(HSD17B4):c.932A>G (p.Asn311Ser) rs200867795 0.00001
NM_000466.3(PEX1):c.*236C>A rs1403267319 0.00001
NM_000466.3(PEX1):c.-45T>C rs886062509 0.00001
NM_000466.3(PEX1):c.-77C>G rs1301449696 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.1166A>G (p.Asn389Ser) rs1179674772 0.00001
NM_000466.3(PEX1):c.1187A>G (p.Asn396Ser) rs398123407 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.1407G>T (p.Trp469Cys) rs746349696 0.00001
NM_000466.3(PEX1):c.1412A>G (p.Gln471Arg) rs1219227236 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.15T>A (p.Asp5Glu) rs201385649 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.1671-13A>G rs757960956 0.00001
NM_000466.3(PEX1):c.1690G>A (p.Val564Ile) rs183965018 0.00001
NM_000466.3(PEX1):c.169T>C (p.Phe57Leu) rs1162642408 0.00001
NM_000466.3(PEX1):c.1714C>G (p.His572Asp) rs1167491787 0.00001
NM_000466.3(PEX1):c.1750A>G (p.Met584Val) rs758085238 0.00001
NM_000466.3(PEX1):c.1754C>T (p.Ser585Phe) rs1792225580 0.00001
NM_000466.3(PEX1):c.1767A>T (p.Gly589=) rs1364124177 0.00001
NM_000466.3(PEX1):c.1772G>A (p.Arg591Lys) rs754337792 0.00001
NM_000466.3(PEX1):c.1777G>A (p.Gly593Arg) rs61750407 0.00001
NM_000466.3(PEX1):c.1810G>A (p.Gly604Arg) rs148427398 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.1945T>G (p.Ser649Ala) rs1251466114 0.00001
NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro) rs121434455 0.00001
NM_000466.3(PEX1):c.2026C>T (p.His676Tyr) rs759330849 0.00001
NM_000466.3(PEX1):c.2138A>G (p.Gln713Arg) rs1356967048 0.00001
NM_000466.3(PEX1):c.2174C>T (p.Ala725Val) rs1268325040 0.00001
NM_000466.3(PEX1):c.2195A>G (p.Gln732Arg) rs147069266 0.00001
NM_000466.3(PEX1):c.2278G>C (p.Asp760His) rs757149759 0.00001
NM_000466.3(PEX1):c.2332G>A (p.Gly778Arg) rs921866912 0.00001
NM_000466.3(PEX1):c.2363T>C (p.Val788Ala) rs886062505 0.00001
NM_000466.3(PEX1):c.2375T>C (p.Ile792Thr) rs747899377 0.00001
NM_000466.3(PEX1):c.2408C>T (p.Thr803Ile) rs750911436 0.00001
NM_000466.3(PEX1):c.2456G>A (p.Arg819His) rs376273608 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.263A>T (p.Asn88Ile) rs763218526 0.00001
NM_000466.3(PEX1):c.2707A>G (p.Ile903Val) rs1009218596 0.00001
NM_000466.3(PEX1):c.2743A>T (p.Ile915Phe) rs376029287 0.00001
NM_000466.3(PEX1):c.2744T>C (p.Ile915Thr) rs757305859 0.00001
NM_000466.3(PEX1):c.2767C>T (p.Arg923Trp) rs780992963 0.00001
NM_000466.3(PEX1):c.2783+4G>A rs751416309 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.2927-8T>C rs778618662 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.3151C>A (p.Leu1051Ile) rs138992611 0.00001
NM_000466.3(PEX1):c.3166T>C (p.Leu1056=) rs1009877821 0.00001
NM_000466.3(PEX1):c.3195G>A (p.Ser1065=) rs768417678 0.00001
NM_000466.3(PEX1):c.3208-3T>C rs763767937 0.00001
NM_000466.3(PEX1):c.3304T>C (p.Cys1102Arg) rs752475812 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.3485C>G (p.Pro1162Arg) rs139869362 0.00001
NM_000466.3(PEX1):c.3543A>G (p.Ser1181=) rs374673391 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.3636+4T>C rs764752742 0.00001
NM_000466.3(PEX1):c.3637-19A>G rs367814599 0.00001
NM_000466.3(PEX1):c.3642C>T (p.Asp1214=) rs777384403 0.00001
NM_000466.3(PEX1):c.3665C>T (p.Pro1222Leu) rs371575516 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.3823C>T (p.Arg1275Ter) rs755549316 0.00001
NM_000466.3(PEX1):c.3839T>A (p.Val1280Glu) rs765142376 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.659C>T (p.Ser220Leu) rs759048090 0.00001
NM_000466.3(PEX1):c.688G>A (p.Glu230Lys) rs781371997 0.00001
NM_000466.3(PEX1):c.693C>T (p.Asn231=) rs1463386429 0.00001
NM_000466.3(PEX1):c.706_720del (p.Pro236_Ser240del) rs754890130 0.00001
NM_000466.3(PEX1):c.724G>A (p.Val242Ile) rs764044654 0.00001
NM_000466.3(PEX1):c.803C>G (p.Thr268Ser) rs780119112 0.00001
NM_000466.3(PEX1):c.814G>A (p.Ala272Thr) rs528610267 0.00001
NM_000466.3(PEX1):c.830A>G (p.Gln277Arg) rs886062506 0.00001
NM_000466.3(PEX1):c.831G>A (p.Gln277=) rs1210178752 0.00001
NM_000466.3(PEX1):c.853A>G (p.Asn285Asp) rs1407539383 0.00001
NM_000466.3(PEX1):c.854A>G (p.Asn285Ser) rs781103940 0.00001
NM_000466.3(PEX1):c.953A>G (p.Asp318Gly) rs751341597 0.00001
NM_001127649.3(PEX26):c.*1493C>G rs1926993500 0.00001
NM_001127649.3(PEX26):c.*1928A>C rs905337330 0.00001
NM_001127649.3(PEX26):c.*2285C>T rs886057257 0.00001
NM_001127649.3(PEX26):c.*2370T>A rs571008916 0.00001
NM_001127649.3(PEX26):c.*2604G>C rs983170194 0.00001
NM_001127649.3(PEX26):c.*2724G>C rs58564536 0.00001
NM_001127649.3(PEX26):c.169A>G (p.Thr57Ala) rs769260247 0.00001
NM_001127649.3(PEX26):c.205G>A (p.Ala69Thr) rs372192286 0.00001
NM_001127649.3(PEX26):c.217G>C (p.Glu73Gln) rs758179855 0.00001
NM_001127649.3(PEX26):c.262G>T (p.Val88Leu) rs555951210 0.00001
NM_001127649.3(PEX26):c.281C>G (p.Ala94Gly) rs761216250 0.00001
NM_001127649.3(PEX26):c.310T>A (p.Ser104Thr) rs148629338 0.00001
NM_001127649.3(PEX26):c.35T>A (p.Leu12His) rs1476091565 0.00001
NM_001127649.3(PEX26):c.372-9G>T rs1926701070 0.00001
NM_001127649.3(PEX26):c.425G>A (p.Gly142Asp) rs1926704169 0.00001
NM_001127649.3(PEX26):c.490G>A (p.Val164Met) rs1161672696 0.00001
NM_001127649.3(PEX26):c.506T>C (p.Leu169Pro) rs768604587 0.00001
NM_001127649.3(PEX26):c.529G>A (p.Ala177Thr) rs1466173209 0.00001
NM_001127649.3(PEX26):c.554C>T (p.Ala185Val) rs370147115 0.00001
NM_001127649.3(PEX26):c.56T>C (p.Leu19Pro) rs1287277452 0.00001
NM_001127649.3(PEX26):c.587T>A (p.Leu196His) rs1926714377 0.00001
NM_001127649.3(PEX26):c.605C>T (p.Ala202Val) rs778822723 0.00001
NM_001127649.3(PEX26):c.627A>T (p.Glu209Asp) rs1344950383 0.00001
NM_001127649.3(PEX26):c.628C>T (p.His210Tyr) rs1199052809 0.00001
NM_001127649.3(PEX26):c.662T>G (p.Leu221Arg) rs767345970 0.00001
NM_001127649.3(PEX26):c.673G>A (p.Val225Ile) rs368290011 0.00001
NM_001127649.3(PEX26):c.680A>T (p.His227Leu) rs776806184 0.00001
NM_001127649.3(PEX26):c.685T>C (p.Phe229Leu) rs1331262454 0.00001
NM_001127649.3(PEX26):c.698C>T (p.Pro233Leu) rs765734604 0.00001
NM_001127649.3(PEX26):c.71C>G (p.Pro24Arg) rs771847925 0.00001
NM_001127649.3(PEX26):c.725C>T (p.Ser242Phe) rs779828574 0.00001
NM_001127649.3(PEX26):c.742T>G (p.Phe248Val) rs1242355055 0.00001
NM_001127649.3(PEX26):c.758A>G (p.Lys253Arg) rs1442402838 0.00001
NM_001127649.3(PEX26):c.776C>T (p.Ala259Val) rs1438615858 0.00001
NM_001127649.3(PEX26):c.788G>C (p.Cys263Ser) rs770160225 0.00001
NM_001127649.3(PEX26):c.799G>A (p.Val267Met) rs1376246557 0.00001
NM_001127649.3(PEX26):c.79G>A (p.Ala27Thr) rs374630564 0.00001
NM_001127649.3(PEX26):c.817T>G (p.Ser273Ala) rs745490062 0.00001
NM_001127649.3(PEX26):c.854A>G (p.Gln285Arg) rs767603690 0.00001
NM_001127649.3(PEX26):c.857T>C (p.Leu286Pro) rs750644243 0.00001
NM_001127649.3(PEX26):c.86C>A (p.Pro29Gln) rs1926394690 0.00001
NM_001127649.3(PEX26):c.889C>T (p.Arg297Cys) rs780701336 0.00001
NM_001127649.3(PEX26):c.890G>A (p.Arg297His) rs1290168962 0.00001
NM_001127649.3(PEX26):c.910C>T (p.Arg304Cys) rs772069004 0.00001
NM_001256447.2(BCAP31):c.716G>A (p.Gly239Asp) rs1557047235 0.00001
NM_001277062.2(MFF):c.678A>G (p.Ile226Met) rs756607883 0.00001
NM_001277062.2(MFF):c.749T>G (p.Ile250Ser) rs1278600625 0.00001
NM_001351132.2(PEX5):c.*403C>T rs886049828 0.00001
NM_001351132.2(PEX5):c.*506T>C rs756345606 0.00001
NM_001351132.2(PEX5):c.*932A>T rs1329909340 0.00001
NM_001351132.2(PEX5):c.-17+102G>C rs747187521 0.00001
NM_001351132.2(PEX5):c.-17+240G>A rs754651589 0.00001
NM_001351132.2(PEX5):c.-17+249C>T rs939041822 0.00001
NM_001351132.2(PEX5):c.-17+65C>G rs1437620977 0.00001
NM_001351132.2(PEX5):c.1031G>A (p.Arg344Gln) rs892031813 0.00001
NM_001351132.2(PEX5):c.1044G>T (p.Glu348Asp) rs746001175 0.00001
NM_001351132.2(PEX5):c.1052T>C (p.Leu351Pro) rs1220028381 0.00001
NM_001351132.2(PEX5):c.1057A>G (p.Asn353Asp) rs971400240 0.00001
NM_001351132.2(PEX5):c.1097C>T (p.Pro366Leu) rs764934631 0.00001
NM_001351132.2(PEX5):c.1111-12A>G rs371599161 0.00001
NM_001351132.2(PEX5):c.121C>T (p.Pro41Ser) rs781410836 0.00001
NM_001351132.2(PEX5):c.1223C>T (p.Ala408Val) rs1218031120 0.00001
NM_001351132.2(PEX5):c.1291C>T (p.Arg431Trp) rs765682048 0.00001
NM_001351132.2(PEX5):c.1292G>A (p.Arg431Gln) rs144901507 0.00001
NM_001351132.2(PEX5):c.131C>G (p.Ala44Gly) rs372992555 0.00001
NM_001351132.2(PEX5):c.1347G>C (p.Gly449=) rs778715159 0.00001
NM_001351132.2(PEX5):c.1357G>A (p.Gly453Ser) rs1190413911 0.00001
NM_001351132.2(PEX5):c.1370G>A (p.Arg457His) rs758827048 0.00001
NM_001351132.2(PEX5):c.1375C>G (p.Leu459Val) rs375947901 0.00001
NM_001351132.2(PEX5):c.1430C>A (p.Ala477Glu) rs779806201 0.00001
NM_001351132.2(PEX5):c.149C>T (p.Ala50Val) rs1311355339 0.00001
NM_001351132.2(PEX5):c.1513G>A (p.Asp505Asn) rs775935095 0.00001
NM_001351132.2(PEX5):c.1545C>T (p.Leu515=) rs762815657 0.00001
NM_001351132.2(PEX5):c.1560T>C (p.Asn520=) rs140330381 0.00001
NM_001351132.2(PEX5):c.1639C>T (p.Arg547Trp) rs760402644 0.00001
NM_001351132.2(PEX5):c.1664A>G (p.Tyr555Cys) rs1169699895 0.00001
NM_001351132.2(PEX5):c.1669C>T (p.Arg557Trp) rs1281539463 0.00001
NM_001351132.2(PEX5):c.1718+6A>C rs764840661 0.00001
NM_001351132.2(PEX5):c.1718G>A (p.Arg573Gln) rs776481733 0.00001
NM_001351132.2(PEX5):c.1737T>C (p.Phe579=) rs753159772 0.00001
NM_001351132.2(PEX5):c.177A>C (p.Glu59Asp) rs755469133 0.00001
NM_001351132.2(PEX5):c.1790G>A (p.Gly597Asp) rs772805558 0.00001
NM_001351132.2(PEX5):c.17T>C (p.Leu6Pro) rs1245227342 0.00001
NM_001351132.2(PEX5):c.1822C>T (p.Arg608Cys) rs372635542 0.00001
NM_001351132.2(PEX5):c.1831T>G (p.Leu611Val) rs200266963 0.00001
NM_001351132.2(PEX5):c.1870G>A (p.Asp624Asn) rs201963167 0.00001
NM_001351132.2(PEX5):c.1877G>A (p.Arg626Gln) rs762252851 0.00001
NM_001351132.2(PEX5):c.205G>A (p.Asp69Asn) rs1941048067 0.00001
NM_001351132.2(PEX5):c.241A>T (p.Thr81Ser) rs769373976 0.00001
NM_001351132.2(PEX5):c.28G>A (p.Glu10Lys) rs747725502 0.00001
NM_001351132.2(PEX5):c.292A>G (p.Asn98Asp) rs374327439 0.00001
NM_001351132.2(PEX5):c.34G>A (p.Gly12Arg) rs398123571 0.00001
NM_001351132.2(PEX5):c.351C>G (p.Asn117Lys) rs1354610463 0.00001
NM_001351132.2(PEX5):c.368T>C (p.Leu123Pro) rs777324636 0.00001
NM_001351132.2(PEX5):c.38G>T (p.Gly13Val) rs1940802625 0.00001
NM_001351132.2(PEX5):c.41C>T (p.Ala14Val) rs768332537 0.00001
NM_001351132.2(PEX5):c.431T>G (p.Phe144Cys) rs1175995959 0.00001
NM_001351132.2(PEX5):c.547C>T (p.Arg183Cys) rs746104983 0.00001
NM_001351132.2(PEX5):c.548G>A (p.Arg183His) rs772215584 0.00001
NM_001351132.2(PEX5):c.568C>T (p.Pro190Ser) rs1410451415 0.00001
NM_001351132.2(PEX5):c.620A>G (p.Asp207Gly) rs1011160954 0.00001
NM_001351132.2(PEX5):c.667G>A (p.Gly223Ser) rs771879452 0.00001
NM_001351132.2(PEX5):c.750G>C (p.Gln250His) rs1239267747 0.00001
NM_001351132.2(PEX5):c.758C>T (p.Thr253Ile) rs747765156 0.00001
NM_001351132.2(PEX5):c.78G>C (p.Gln26His) rs1940818656 0.00001
NM_001351132.2(PEX5):c.800C>T (p.Thr267Ile) rs759083753 0.00001
NM_001351132.2(PEX5):c.92G>A (p.Arg31Gln) rs190526209 0.00001
NM_001351132.2(PEX5):c.965A>T (p.Lys322Met) rs770028664 0.00001
NM_001351132.2(PEX5):c.967-3dup rs777815209 0.00001
NM_001351132.2(PEX5):c.991C>T (p.Pro331Ser) rs1311867918 0.00001
NM_001351132.2(PEX5):c.997C>T (p.Arg333Cys) rs756565648 0.00001
NM_002617.4(PEX10):c.*175T>C rs1389854882 0.00001
NM_002617.4(PEX10):c.*445G>A rs557941413 0.00001
NM_002617.4(PEX10):c.*824G>A rs1288938989 0.00001
NM_002617.4(PEX10):c.*838C>T rs886046135 0.00001
NM_002617.4(PEX10):c.112+11G>T rs1322541651 0.00001
NM_002617.4(PEX10):c.120G>T (p.Arg40Ser) rs1363831554 0.00001
NM_002617.4(PEX10):c.194-5C>T rs375032738 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.272G>A (p.Arg91His) rs778774616 0.00001
NM_002617.4(PEX10):c.290C>T (p.Thr97Ile) rs750947589 0.00001
NM_002617.4(PEX10):c.29A>C (p.Glu10Ala) rs1367685379 0.00001
NM_002617.4(PEX10):c.307C>G (p.Pro103Ala) rs1299562078 0.00001
NM_002617.4(PEX10):c.338T>C (p.Leu113Pro) rs757778155 0.00001
NM_002617.4(PEX10):c.344A>G (p.Gln115Arg) rs778031802 0.00001
NM_002617.4(PEX10):c.371G>A (p.Gly124Glu) rs1169193497 0.00001
NM_002617.4(PEX10):c.390C>G (p.Ser130Arg) rs1425257705 0.00001
NM_002617.4(PEX10):c.421G>A (p.Ala141Thr) rs747538698 0.00001
NM_002617.4(PEX10):c.422C>T (p.Ala141Val) rs778322648 0.00001
NM_002617.4(PEX10):c.436C>T (p.Arg146Cys) rs1184194956 0.00001
NM_002617.4(PEX10):c.437G>A (p.Arg146His) rs1471507257 0.00001
NM_002617.4(PEX10):c.43G>A (p.Ala15Thr) rs1438725093 0.00001
NM_002617.4(PEX10):c.449C>T (p.Ala150Val) rs776218721 0.00001
NM_002617.4(PEX10):c.488C>T (p.Ala163Val) rs750507518 0.00001
NM_002617.4(PEX10):c.496G>A (p.Val166Ile) rs368864383 0.00001
NM_002617.4(PEX10):c.538G>T (p.Ala180Ser) rs769189410 0.00001
NM_002617.4(PEX10):c.601-18G>C rs149822209 0.00001
NM_002617.4(PEX10):c.601-33G>A rs1187656235 0.00001
NM_002617.4(PEX10):c.601-39C>T rs1469160710 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.601-63C>T rs1172587431 0.00001
NM_002617.4(PEX10):c.623G>A (p.Gly208Glu) rs753300436 0.00001
NM_002617.4(PEX10):c.668T>C (p.Ile223Thr) rs780850148 0.00001
NM_002617.4(PEX10):c.677T>C (p.Leu226Pro) rs746710198 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.719G>A (p.Arg240Lys) rs1419912761 0.00001
NM_002617.4(PEX10):c.751C>A (p.Leu251Met) rs1355235678 0.00001
NM_002617.4(PEX10):c.776+9G>A rs528387404 0.00001
NM_002617.4(PEX10):c.823C>T (p.Leu275=) rs752928632 0.00001
NM_002617.4(PEX10):c.827G>T (p.Cys276Phe) rs1414973726 0.00001
NM_002617.4(PEX10):c.835G>A (p.Glu279Lys) rs62641225 0.00001
NM_002617.4(PEX10):c.838C>T (p.Arg280Cys) rs750424221 0.00001
NM_002617.4(PEX10):c.864C>T (p.Cys288=) rs762621687 0.00001
NM_002617.4(PEX10):c.8C>G (p.Pro3Arg) rs528381804 0.00001
NM_002617.4(PEX10):c.913-2A>C rs758250423 0.00001
NM_002617.4(PEX10):c.913-3C>T rs777570617 0.00001
NM_002617.4(PEX10):c.919T>C (p.Cys307Arg) rs1418762869 0.00001
NM_002617.4(PEX10):c.922C>T (p.Pro308Ser) rs1402121158 0.00001
NM_002617.4(PEX10):c.931C>T (p.Arg311Trp) rs765965290 0.00001
NM_002617.4(PEX10):c.940T>C (p.Phe314Leu) rs148057567 0.00001
NM_002617.4(PEX10):c.977G>A (p.Arg326His) rs140890506 0.00001
NM_002617.4(PEX10):c.98T>G (p.Leu33Arg) rs1643271090 0.00001
NM_002618.4(PEX13):c.*2168A>T rs886056207 0.00001
NM_002618.4(PEX13):c.*2234A>G rs1358607905 0.00001
NM_002618.4(PEX13):c.*2581A>T rs895620341 0.00001
NM_002618.4(PEX13):c.*2749C>G rs888853893 0.00001
NM_002618.4(PEX13):c.*298G>C rs886056199 0.00001
NM_002618.4(PEX13):c.*3216C>G rs780132052 0.00001
NM_002618.4(PEX13):c.*895C>T rs979509871 0.00001
NM_002618.4(PEX13):c.*953G>A rs1339051481 0.00001
NM_002618.4(PEX13):c.1000C>A (p.Leu334Ile) rs149581494 0.00001
NM_002618.4(PEX13):c.1019G>C (p.Arg340Thr) rs755008779 0.00001
NM_002618.4(PEX13):c.103T>A (p.Leu35Met) rs752671523 0.00001
NM_002618.4(PEX13):c.1053G>C (p.Gln351His) rs759524829 0.00001
NM_002618.4(PEX13):c.1058A>G (p.Gln353Arg) rs755510406 0.00001
NM_002618.4(PEX13):c.1070A>G (p.Asn357Ser) rs144300539 0.00001
NM_002618.4(PEX13):c.1094C>T (p.Thr365Met) rs769398640 0.00001
NM_002618.4(PEX13):c.1132G>A (p.Glu378Lys) rs1167111884 0.00001
NM_002618.4(PEX13):c.1144G>C (p.Val382Leu) rs886044219 0.00001
NM_002618.4(PEX13):c.1158G>A (p.Lys386=) rs371789976 0.00001
NM_002618.4(PEX13):c.116T>C (p.Leu39Ser) rs1351769986 0.00001
NM_002618.4(PEX13):c.1183G>A (p.Gly395Arg) rs1337201612 0.00001
NM_002618.4(PEX13):c.122C>T (p.Thr41Ile) rs1282669816 0.00001
NM_002618.4(PEX13):c.130G>A (p.Gly44Arg) rs1281056404 0.00001
NM_002618.4(PEX13):c.139G>A (p.Ala47Thr) rs1292631867 0.00001
NM_002618.4(PEX13):c.14C>T (p.Pro5Leu) rs898062680 0.00001
NM_002618.4(PEX13):c.154C>A (p.Pro52Thr) rs1210739309 0.00001
NM_002618.4(PEX13):c.166C>T (p.Leu56Phe) rs1292485549 0.00001
NM_002618.4(PEX13):c.1A>G (p.Met1Val) rs1201215154 0.00001
NM_002618.4(PEX13):c.217C>G (p.Pro73Ala) rs767895802 0.00001
NM_002618.4(PEX13):c.241G>A (p.Gly81Arg) rs892846278 0.00001
NM_002618.4(PEX13):c.257G>A (p.Gly86Glu) rs752312334 0.00001
NM_002618.4(PEX13):c.311G>A (p.Gly104Asp) rs773664586 0.00001
NM_002618.4(PEX13):c.319C>T (p.Arg107Cys) rs776824458 0.00001
NM_002618.4(PEX13):c.322C>T (p.Leu108Phe) rs138030119 0.00001
NM_002618.4(PEX13):c.374G>A (p.Ser125Asn) rs748193136 0.00001
NM_002618.4(PEX13):c.403A>T (p.Ser135Cys) rs1357787046 0.00001
NM_002618.4(PEX13):c.409G>A (p.Val137Met) rs768438349 0.00001
NM_002618.4(PEX13):c.433A>G (p.Met145Val) rs1345860074 0.00001
NM_002618.4(PEX13):c.43C>T (p.Arg15Cys) rs1311634962 0.00001
NM_002618.4(PEX13):c.44G>A (p.Arg15His) rs576438646 0.00001
NM_002618.4(PEX13):c.464A>G (p.Tyr155Cys) rs1298522041 0.00001
NM_002618.4(PEX13):c.493G>A (p.Ala165Thr) rs1481858907 0.00001
NM_002618.4(PEX13):c.500A>G (p.His167Arg) rs1336772620 0.00001
NM_002618.4(PEX13):c.509G>A (p.Arg170Gln) rs779100414 0.00001
NM_002618.4(PEX13):c.565C>T (p.Arg189Trp) rs771451906 0.00001
NM_002618.4(PEX13):c.569A>G (p.Tyr190Cys) rs763396088 0.00001
NM_002618.4(PEX13):c.581G>A (p.Arg194Gln) rs761487103 0.00001
NM_002618.4(PEX13):c.592A>T (p.Met198Leu) rs760577554 0.00001
NM_002618.4(PEX13):c.611G>A (p.Gly204Asp) rs752948360 0.00001
NM_002618.4(PEX13):c.620A>C (p.Asn207Thr) rs1316575619 0.00001
NM_002618.4(PEX13):c.64C>T (p.Pro22Ser) rs1466677796 0.00001
NM_002618.4(PEX13):c.659G>A (p.Cys220Tyr) rs988856957 0.00001
NM_002618.4(PEX13):c.691G>A (p.Ala231Thr) rs1471254251 0.00001
NM_002618.4(PEX13):c.8C>G (p.Ser3Cys) rs950397917 0.00001
NM_002618.4(PEX13):c.905C>G (p.Ala302Gly) rs770549469 0.00001
NM_002618.4(PEX13):c.913+5T>G rs1380556679 0.00001
NM_002618.4(PEX13):c.92+6T>C rs1291662088 0.00001
NM_002618.4(PEX13):c.94T>C (p.Ser32Pro) rs759610758 0.00001
NM_002618.4(PEX13):c.961C>G (p.Gln321Glu) rs765658938 0.00001
NM_002618.4(PEX13):c.967A>C (p.Thr323Pro) rs753122073 0.00001
NM_002618.4(PEX13):c.968C>T (p.Thr323Ile) rs1559047077 0.00001
NM_002857.4(PEX19):c.*1330G>A rs886045442 0.00001
NM_002857.4(PEX19):c.*138C>T rs770138698 0.00001
NM_002857.4(PEX19):c.*1450T>A rs886045441 0.00001
NM_002857.4(PEX19):c.*2155C>T rs886045439 0.00001
NM_002857.4(PEX19):c.*469C>T rs886045446 0.00001
NM_002857.4(PEX19):c.*716C>A rs1201331563 0.00001
NM_002857.4(PEX19):c.*741C>T rs1288025465 0.00001
NM_002857.4(PEX19):c.*971G>A rs543861713 0.00001
NM_002857.4(PEX19):c.10G>T (p.Ala4Ser) rs1436027867 0.00001
NM_002857.4(PEX19):c.110C>T (p.Ala37Val) rs575112594 0.00001
NM_002857.4(PEX19):c.148C>A (p.Pro50Thr) rs1280706455 0.00001
NM_002857.4(PEX19):c.181G>A (p.Asp61Asn) rs1364910260 0.00001
NM_002857.4(PEX19):c.200A>C (p.Gln67Pro) rs755726384 0.00001
NM_002857.4(PEX19):c.31G>C (p.Gly11Arg) rs772905234 0.00001
NM_002857.4(PEX19):c.365A>G (p.Gln122Arg) rs1405573106 0.00001
NM_002857.4(PEX19):c.367C>G (p.Gln123Glu) rs1334997035 0.00001
NM_002857.4(PEX19):c.37G>C (p.Glu13Gln) rs868021380 0.00001
NM_002857.4(PEX19):c.424G>C (p.Asp142His) rs778927500 0.00001
NM_002857.4(PEX19):c.432+2T>C rs757078881 0.00001
NM_002857.4(PEX19):c.442A>G (p.Met148Val) rs905834830 0.00001
NM_002857.4(PEX19):c.484A>C (p.Met162Leu) rs1205563557 0.00001
NM_002857.4(PEX19):c.517C>T (p.Pro173Ser) rs1298851036 0.00001
NM_002857.4(PEX19):c.526C>G (p.Gln176Glu) rs1480182464 0.00001
NM_002857.4(PEX19):c.536T>G (p.Met179Arg) rs1234326495 0.00001
NM_002857.4(PEX19):c.57G>C (p.Glu19Asp) rs1170972153 0.00001
NM_002857.4(PEX19):c.594G>C (p.Lys198Asn) rs773909342 0.00001
NM_002857.4(PEX19):c.61C>G (p.Leu21Val) rs374112351 0.00001
NM_002857.4(PEX19):c.629T>C (p.Leu210Pro) rs775425209 0.00001
NM_002857.4(PEX19):c.667A>G (p.Ser223Gly) rs778154365 0.00001
NM_002857.4(PEX19):c.76C>A (p.Leu26Ile) rs146340199 0.00001
NM_002857.4(PEX19):c.772C>G (p.Leu258Val) rs752093054 0.00001
NM_002857.4(PEX19):c.858G>A (p.Ser286=) rs754510943 0.00001
NM_002857.4(PEX19):c.88G>A (p.Asp30Asn) rs764990251 0.00001
NM_002857.4(PEX19):c.895_896del (p.Met299fs) rs1175608825 0.00001
NM_002979.5(SCP2):c.572A>G (p.His191Arg) rs372168791 0.00001
NM_003630.3(PEX3):c.*978C>T rs777447974 0.00001
NM_003630.3(PEX3):c.-175G>C rs545482337 0.00001
NM_003630.3(PEX3):c.-214G>C rs886061129 0.00001
NM_003630.3(PEX3):c.-231G>C rs1037688328 0.00001
NM_003630.3(PEX3):c.51C>T (p.Ile17=) rs367803197 0.00001
NM_003630.3(PEX3):c.810G>A (p.Met270Ile) rs747026967 0.00001
NM_003659.4(AGPS):c.*165T>A rs886055169 0.00001
NM_003659.4(AGPS):c.*2487C>T rs537655173 0.00001
NM_003659.4(AGPS):c.*3953A>G rs886055193 0.00001
NM_003659.4(AGPS):c.*4910C>T rs886055197 0.00001
NM_003659.4(AGPS):c.*5026C>T rs560345041 0.00001
NM_003659.4(AGPS):c.*5155C>T rs886055198 0.00001
NM_003659.4(AGPS):c.*641T>C rs886055173 0.00001
NM_003659.4(AGPS):c.-14A>G rs752946440 0.00001
NM_003659.4(AGPS):c.108G>A (p.Arg36=) rs886055163 0.00001
NM_003659.4(AGPS):c.1437A>G (p.Gln479=) rs753932510 0.00001
NM_003659.4(AGPS):c.14C>T (p.Ala5Val) rs1233318758 0.00001
NM_003659.4(AGPS):c.1519C>T (p.Leu507=) rs761831871 0.00001
NM_003659.4(AGPS):c.1665G>A (p.Lys555=) rs759313804 0.00001
NM_003659.4(AGPS):c.1713C>T (p.Tyr571=) rs773126499 0.00001
NM_003659.4(AGPS):c.186A>G (p.Arg62=) rs990214554 0.00001
NM_003659.4(AGPS):c.1908T>C (p.Phe636=) rs765895661 0.00001
NM_003659.4(AGPS):c.200C>T (p.Ala67Val) rs1454806934 0.00001
NM_003659.4(AGPS):c.354C>T (p.Tyr118=) rs200594024 0.00001
NM_003659.4(AGPS):c.40G>T (p.Gly14Cys) rs1217837187 0.00001
NM_003659.4(AGPS):c.57C>T (p.Tyr19=) rs1346009699 0.00001
NM_003659.4(AGPS):c.83A>T (p.Asp28Val) rs764286061 0.00001
NM_004035.7(ACOX1):c.*1096C>G rs371154191 0.00001
NM_004035.7(ACOX1):c.*2451A>G rs562755014 0.00001
NM_004035.7(ACOX1):c.*2584C>A rs2065698931 0.00001
NM_004035.7(ACOX1):c.*3665C>T rs369759832 0.00001
NM_004035.7(ACOX1):c.*3779A>G rs1193014187 0.00001
NM_004035.7(ACOX1):c.*4590G>A rs886053432 0.00001
NM_004035.7(ACOX1):c.*4766G>A rs777396782 0.00001
NM_004035.7(ACOX1):c.*5028T>G rs1477212977 0.00001
NM_004035.7(ACOX1):c.*678T>C rs183331347 0.00001
NM_004035.7(ACOX1):c.10G>A (p.Asp4Asn) rs1277336037 0.00001
NM_004035.7(ACOX1):c.110-3C>T rs1026129918 0.00001
NM_004035.7(ACOX1):c.1270A>G (p.Asn424Asp) rs753465451 0.00001
NM_004035.7(ACOX1):c.1420A>G (p.Met474Val) rs201177699 0.00001
NM_004035.7(ACOX1):c.1441G>A (p.Glu481Lys) rs780812320 0.00001
NM_004035.7(ACOX1):c.1469G>A (p.Arg490His) rs762956777 0.00001
NM_004035.7(ACOX1):c.1516G>A (p.Val506Met) rs2065754574 0.00001
NM_004035.7(ACOX1):c.1541T>C (p.Val514Ala) rs776575018 0.00001
NM_004035.7(ACOX1):c.1556C>T (p.Thr519Ile) rs758791373 0.00001
NM_004035.7(ACOX1):c.1606G>T (p.Val536Phe) rs140448449 0.00001
NM_004035.7(ACOX1):c.1668G>C (p.Arg556Ser) rs1449232218 0.00001
NM_004035.7(ACOX1):c.1678C>A (p.Leu560Met) rs1419146482 0.00001
NM_004035.7(ACOX1):c.1715G>A (p.Gly572Glu) rs889815360 0.00001
NM_004035.7(ACOX1):c.1732A>C (p.Ser578Arg) rs762657777 0.00001
NM_004035.7(ACOX1):c.176G>C (p.Arg59Pro) rs777937235 0.00001
NM_004035.7(ACOX1):c.1821T>C (p.Val607=) rs762221413 0.00001
NM_004035.7(ACOX1):c.365G>A (p.Arg122His) rs768462369 0.00001
NM_004035.7(ACOX1):c.408T>C (p.Tyr136=) rs779313800 0.00001
NM_004035.7(ACOX1):c.551C>T (p.Ser184Leu) rs780887410 0.00001
NM_004035.7(ACOX1):c.649C>T (p.Pro217Ser) rs754549568 0.00001
NM_004035.7(ACOX1):c.659-4G>A rs746563980 0.00001
NM_004035.7(ACOX1):c.679G>A (p.Gly227Ser) rs1002618350 0.00001
NM_004035.7(ACOX1):c.737G>A (p.Arg246His) rs1392899105 0.00001
NM_004035.7(ACOX1):c.774+11A>G rs768703904 0.00001
NM_004035.7(ACOX1):c.871C>T (p.Arg291Trp) rs778134359 0.00001
NM_004035.7(ACOX1):c.91C>T (p.Arg31Trp) rs549222813 0.00001
NM_004565.3(PEX14):c.*256A>G rs373498478 0.00001
NM_004565.3(PEX14):c.*459T>C rs954625667 0.00001
NM_004565.3(PEX14):c.1025G>A (p.Cys342Tyr) rs774432688 0.00001
NM_004565.3(PEX14):c.1052G>A (p.Arg351Gln) rs960056444 0.00001
NM_004565.3(PEX14):c.1081G>A (p.Val361Met) rs1041756834 0.00001
NM_004565.3(PEX14):c.1121G>A (p.Ser374Asn) rs1305475145 0.00001
NM_004565.3(PEX14):c.124C>T (p.Arg42Cys) rs540190684 0.00001
NM_004565.3(PEX14):c.163A>C (p.Lys55Gln) rs753472251 0.00001
NM_004565.3(PEX14):c.188T>C (p.Ile63Thr) rs762505617 0.00001
NM_004565.3(PEX14):c.199T>C (p.Phe67Leu) rs751540499 0.00001
NM_004565.3(PEX14):c.233C>T (p.Ser78Leu) rs778315559 0.00001
NM_004565.3(PEX14):c.311C>T (p.Ser104Phe) rs756523143 0.00001
NM_004565.3(PEX14):c.314G>A (p.Arg105Gln) rs754085368 0.00001
NM_004565.3(PEX14):c.328G>A (p.Gly110Ser) rs771702217 0.00001
NM_004565.3(PEX14):c.331G>A (p.Ala111Thr) rs758492014 0.00001
NM_004565.3(PEX14):c.36+6G>T rs369035854 0.00001
NM_004565.3(PEX14):c.382A>G (p.Lys128Glu) rs756676436 0.00001
NM_004565.3(PEX14):c.41G>A (p.Ser14Asn) rs1641538447 0.00001
NM_004565.3(PEX14):c.44C>G (p.Ser15Cys) rs755705743 0.00001
NM_004565.3(PEX14):c.511G>A (p.Ala171Thr) rs1330745700 0.00001
NM_004565.3(PEX14):c.516C>T (p.Ser172=) rs543843635 0.00001
NM_004565.3(PEX14):c.556G>C (p.Glu186Gln) rs543130270 0.00001
NM_004565.3(PEX14):c.643G>A (p.Glu215Lys) rs1370410030 0.00001
NM_004565.3(PEX14):c.648T>G (p.Ile216Met) rs756446450 0.00001
NM_004565.3(PEX14):c.77A>G (p.Glu26Gly) rs1407518602 0.00001
NM_004565.3(PEX14):c.888G>T (p.Gln296His) rs1358510161 0.00001
NM_004565.3(PEX14):c.896G>A (p.Gly299Asp) rs140533305 0.00001
NM_004565.3(PEX14):c.902G>T (p.Gly301Val) rs773005677 0.00001
NM_004565.3(PEX14):c.912C>T (p.Asp304=) rs1202283239 0.00001
NM_004565.3(PEX14):c.925G>T (p.Val309Leu) rs764272265 0.00001
NM_004813.4(PEX16):c.*277C>T rs886048326 0.00001
NM_004813.4(PEX16):c.187G>A (p.Gly63Arg) rs754220780 0.00001
NM_004813.4(PEX16):c.197G>A (p.Arg66Gln) rs143737124 0.00001
NM_004813.4(PEX16):c.202G>A (p.Glu68Lys) rs374895823 0.00001
NM_004813.4(PEX16):c.208C>T (p.Arg70Trp) rs886044340 0.00001
NM_004813.4(PEX16):c.227C>T (p.Ser76Leu) rs139930879 0.00001
NM_004813.4(PEX16):c.28C>A (p.Arg10Ser) rs2086854956 0.00001
NM_004813.4(PEX16):c.325C>T (p.Arg109Cys) rs779016766 0.00001
NM_004813.4(PEX16):c.370C>T (p.Arg124Trp) rs754748410 0.00001
NM_004813.4(PEX16):c.371G>A (p.Arg124Gln) rs751381531 0.00001
NM_004813.4(PEX16):c.448G>T (p.Ala150Ser) rs772360222 0.00001
NM_004813.4(PEX16):c.461-6del rs1344841850 0.00001
NM_004813.4(PEX16):c.492G>C (p.Gln164His) rs773347735 0.00001
NM_004813.4(PEX16):c.545C>T (p.Pro182Leu) rs755516862 0.00001
NM_004813.4(PEX16):c.583C>T (p.Arg195Trp) rs557365860 0.00001
NM_004813.4(PEX16):c.610G>A (p.Glu204Lys) rs368553807 0.00001
NM_004813.4(PEX16):c.623C>T (p.Ala208Val) rs201173264 0.00001
NM_004813.4(PEX16):c.629C>T (p.Pro210Leu) rs565706311 0.00001
NM_004813.4(PEX16):c.632C>T (p.Thr211Ile) rs751488634 0.00001
NM_004813.4(PEX16):c.680G>A (p.Arg227Gln) rs754024503 0.00001
NM_004813.4(PEX16):c.710T>G (p.Leu237Arg) rs753577538 0.00001
NM_004813.4(PEX16):c.730A>C (p.Lys244Gln) rs2086807349 0.00001
NM_004813.4(PEX16):c.734C>T (p.Pro245Leu) rs1364730132 0.00001
NM_004813.4(PEX16):c.752T>G (p.Val251Gly) rs759092071 0.00001
NM_004813.4(PEX16):c.802C>T (p.Arg268Trp) rs886044625 0.00001
NM_004813.4(PEX16):c.812G>A (p.Arg271Gln) rs769838583 0.00001
NM_004813.4(PEX16):c.820C>A (p.Leu274Met) rs751273439 0.00001
NM_004813.4(PEX16):c.823C>T (p.Arg275Trp) rs372815115 0.00001
NM_004813.4(PEX16):c.859C>T (p.Arg287Cys) rs769772100 0.00001
NM_004813.4(PEX16):c.892A>G (p.Arg298Gly) rs887278864 0.00001
NM_004813.4(PEX16):c.962T>C (p.Met321Thr) rs758636115 0.00001
NM_006214.4(PHYH):c.1009A>G (p.Asn337Asp) rs758218321 0.00001
NM_006214.4(PHYH):c.245G>A (p.Arg82Gln) rs886046830 0.00001
NM_006214.4(PHYH):c.506C>T (p.Thr169Met) rs1002598201 0.00001
NM_006214.4(PHYH):c.703G>A (p.Gly235Arg) rs750819521 0.00001
NM_014236.4(GNPAT):c.*338A>G rs1313858069 0.00001
NM_014236.4(GNPAT):c.*389G>A rs886046094 0.00001
NM_014236.4(GNPAT):c.*399G>C rs1209530835 0.00001
NM_014236.4(GNPAT):c.-147G>C rs868789232 0.00001
NM_014236.4(GNPAT):c.1044C>T (p.Asn348=) rs760847656 0.00001
NM_014236.4(GNPAT):c.1353C>G (p.Asp451Glu) rs749596302 0.00001
NM_014236.4(GNPAT):c.1428C>T (p.Leu476=) rs1369256964 0.00001
NM_014236.4(GNPAT):c.1488A>G (p.Ala496=) rs886046092 0.00001
NM_014236.4(GNPAT):c.930G>A (p.Leu310=) rs2296166 0.00001
NM_014324.5(AMACR):c.-40G>A rs553007226 0.00001
NM_014324.6(AMACR):c.*1181G>A rs886060526 0.00001
NM_014324.6(AMACR):c.*1367T>C rs752473789 0.00001
NM_014324.6(AMACR):c.*1622T>C rs886060523 0.00001
NM_014324.6(AMACR):c.*1875C>T rs1006230629 0.00001
NM_014324.6(AMACR):c.1045C>G (p.His349Asp) rs779722935 0.00001
NM_014324.6(AMACR):c.1051G>A (p.Glu351Lys) rs761488582 0.00001
NM_014324.6(AMACR):c.106C>T (p.Arg36Trp) rs769044213 0.00001
NM_014324.6(AMACR):c.1084G>A (p.Glu362Lys) rs774406448 0.00001
NM_014324.6(AMACR):c.1123A>G (p.Ser375Gly) rs200270822 0.00001
NM_014324.6(AMACR):c.1137A>T (p.Lys379Asn) rs1484335138 0.00001
NM_014324.6(AMACR):c.123C>G (p.Tyr41Ter) rs1561047456 0.00001
NM_014324.6(AMACR):c.235C>G (p.Pro79Ala) rs938653823 0.00001
NM_014324.6(AMACR):c.254T>C (p.Met85Thr) rs936948409 0.00001
NM_014324.6(AMACR):c.317G>A (p.Arg106Lys) rs752862912 0.00001
NM_014324.6(AMACR):c.319C>A (p.Leu107Met) rs1376599461 0.00001
NM_014324.6(AMACR):c.364C>T (p.His122Tyr) rs1279600909 0.00001
NM_014324.6(AMACR):c.366C>T (p.His122=) rs775128044 0.00001
NM_014324.6(AMACR):c.367G>A (p.Asp123Asn) rs771615304 0.00001
NM_014324.6(AMACR):c.387G>C (p.Leu129Phe) rs917667584 0.00001
NM_014324.6(AMACR):c.407T>C (p.Ile136Thr) rs1753921208 0.00001
NM_014324.6(AMACR):c.410G>A (p.Gly137Asp) rs777768049 0.00001
NM_014324.6(AMACR):c.423G>C (p.Glu141Asp) rs748131178 0.00001
NM_014324.6(AMACR):c.445C>A (p.Leu149Ile) rs1057520170 0.00001
NM_014324.6(AMACR):c.48G>A (p.Pro16=) rs144271819 0.00001
NM_014324.6(AMACR):c.512G>A (p.Arg171His) rs770694101 0.00001
NM_014324.6(AMACR):c.553-3A>G rs775486138 0.00001
NM_014324.6(AMACR):c.670A>G (p.Arg224Gly) rs1348790589 0.00001
NM_014324.6(AMACR):c.710A>G (p.Glu237Gly) rs553965377 0.00001
NM_014324.6(AMACR):c.749T>G (p.Leu250Arg) rs1464991426 0.00001
NM_014324.6(AMACR):c.806A>T (p.Lys269Met) rs142887272 0.00001
NM_014324.6(AMACR):c.826G>C (p.Ala276Pro) rs200687238 0.00001
NM_014324.6(AMACR):c.841G>C (p.Ala281Pro) rs371707295 0.00001
NM_014324.6(AMACR):c.887C>T (p.Pro296Leu) rs774180397 0.00001
NM_014324.6(AMACR):c.934C>T (p.Arg312Trp) rs201507169 0.00001
NM_014324.6(AMACR):c.965A>T (p.Asp322Val) rs575263204 0.00001
NM_014324.6(AMACR):c.994T>G (p.Leu332Val) rs1265714665 0.00001
NM_015294.6(TRIM37):c.*594A>G rs1349963169 0.00001
NM_015294.6(TRIM37):c.*963A>G rs1021286743 0.00001
NM_015294.6(TRIM37):c.-139G>A rs886053178 0.00001
NM_015294.6(TRIM37):c.-18C>T rs779613026 0.00001
NM_015294.6(TRIM37):c.-419G>T rs549763737 0.00001
NM_015294.6(TRIM37):c.1178A>G (p.Gln393Arg) rs761341418 0.00001
NM_015294.6(TRIM37):c.1330C>T (p.Leu444=) rs143621221 0.00001
NM_015294.6(TRIM37):c.1446C>T (p.Leu482=) rs774383633 0.00001
NM_015294.6(TRIM37):c.1700T>A (p.Met567Lys) rs2039198414 0.00001
NM_015294.6(TRIM37):c.1750G>A (p.Ala584Thr) rs905269944 0.00001
NM_015294.6(TRIM37):c.2556G>A (p.Arg852=) rs2035829725 0.00001
NM_015294.6(TRIM37):c.2746G>A (p.Glu916Lys) rs527789426 0.00001
NM_015294.6(TRIM37):c.2816C>T (p.Thr939Ile) rs1213033682 0.00001
NM_017929.5(PEX26):c.-167C>T rs886057244 0.00001
NM_032228.6(FAR1):c.1016A>G (p.Asn339Ser) rs545894851 0.00001
NM_153818.1(PEX10):c.-77G>T rs1257096968 0.00001
NC_000001.10:g.(?_10535024)_(10535079_?)dup
NC_000001.10:g.(?_10535024)_(10596374_?)dup
NC_000001.10:g.(?_10535024)_(11107264_?)dup
NC_000001.10:g.(?_10555311)_(10555398_?)dup
NC_000001.10:g.(?_10687309)_(10687440_?)del
NC_000001.10:g.(?_160090676)_(160327063_?)dup
NC_000001.10:g.(?_1724664)_(2338414_?)dup
NC_000001.10:g.(?_2337205)_(2343941_?)dup
NC_000002.11:g.(?_61244895)_(61275905_?)dup
NC_000002.11:g.(?_61258534)_(61275905_?)del
NC_000002.11:g.(?_61258534)_(62063264_?)dup
NC_000002.11:g.(?_61272841)_(61275905_?)del
NC_000002.11:g.(?_61272841)_(61275905_?)dup
NC_000005.9:g.(?_118809583)_(118877689_?)dup
NC_000005.9:g.(?_118877580)_(118877689_?)del
NC_000005.9:g.(?_33944753)_(33989627_?)dup
NC_000005.9:g.(?_33944753)_(35089722_?)dup
NC_000005.9:g.(?_33986409)_(33989627_?)dup
NC_000005.9:g.(?_34007858)_(34008124_?)del
NC_000005.9:g.(?_34007858)_(34935958_?)dup
NC_000006.11:g.(?_137143759)_(137143953_?)dup
NC_000006.11:g.(?_137143759)_(137167339_?)dup
NC_000006.11:g.(?_42928506)_(42952462_?)dup
NC_000006.12:g.(?_136821564)_(136914934_?)dup
NC_000006.12:g.(?_42923027)_(42984704_?)dup
NC_000007.13:g.(?_92116771)_(92151579_?)dup
NC_000007.14:g.(?_92487437)_(92487561_?)del
NC_000008.10:g.(?_77895497)_(77896414_?)dup
NC_000011.10:g.34438684C>G rs1001179
NC_000011.9:g.(?_45827353)_(45932533_?)dup
NC_000012.11:g.(?_6438458)_(7362839_?)dup
NC_000012.11:g.(?_6978008)_(9010204_?)dup
NC_000012.11:g.(?_7342974)_(7362819_?)dup
NC_000017.10:g.(?_33475283)_(34079869_?)dup
NC_000017.10:g.(?_33902781)_(33905060_?)dup
NC_000017.10:g.(?_73720784)_(73975154_?)dup
NC_000017.10:g.(?_73942829)_(73953667_?)dup
NC_000017.10:g.(?_73942829)_(73956476_?)dup
NC_000017.10:g.(?_73956276)_(73975154_?)dup
NC_000022.10:g.(?_18562620)_(18562800_?)dup
NC_000022.11:g.(?_17877577)_(18088075_?)dup
NC_000023.10:g.(?_152014869)_(153363122_?)dup
NC_000023.10:g.(?_152990712)_(153009199_?)dup
NC_000023.10:g.(?_153001546)_(154563736_?)dup
NG_008005.1:g.8384_8763AACATGCAGGNGGAGGAGGGTGAGAGTTCGTG[29-32]
NM_000030.3(AGXT):c.*162A>G rs886055844
NM_000030.3(AGXT):c.*194A>T rs2059043450
NM_000030.3(AGXT):c.1006G>A (p.Val336Ile)
NM_000030.3(AGXT):c.1015G>A (p.Val339Ile)
NM_000030.3(AGXT):c.1033A>G (p.Ile345Val)
NM_000030.3(AGXT):c.1036G>A (p.Glu346Lys)
NM_000030.3(AGXT):c.1045_1046delinsAA (p.Gly349Asn)
NM_000030.3(AGXT):c.1046G>A (p.Gly349Asp) rs2059038329
NM_000030.3(AGXT):c.1065G>A (p.Thr355=) rs143488099
NM_000030.3(AGXT):c.1065G>C (p.Thr355=) rs143488099
NM_000030.3(AGXT):c.1072-91G>A rs180177159
NM_000030.3(AGXT):c.1110_1111del (p.Asn372fs) rs796052075
NM_000030.3(AGXT):c.1124G>A (p.Arg375His)
NM_000030.3(AGXT):c.1130C>T (p.Thr377Met)
NM_000030.3(AGXT):c.1144G>A (p.Ala382Thr)
NM_000030.3(AGXT):c.124G>A (p.Gly42Arg)
NM_000030.3(AGXT):c.165+12G>C rs201989825
NM_000030.3(AGXT):c.165+16A>G rs66494441
NM_000030.3(AGXT):c.165+19_166-48dup rs180177174
NM_000030.3(AGXT):c.166-3C>G
NM_000030.3(AGXT):c.166-47T>C rs180177178
NM_000030.3(AGXT):c.166-54C>T rs180177179
NM_000030.3(AGXT):c.166-57C>T rs180177175
NM_000030.3(AGXT):c.174C>A (p.Asp58Glu) rs761756536
NM_000030.3(AGXT):c.185A>C (p.Glu62Ala)
NM_000030.3(AGXT):c.194A>G (p.Gln65Arg)
NM_000030.3(AGXT):c.216C>G (p.Asn72Lys)
NM_000030.3(AGXT):c.224C>A (p.Thr75Lys)
NM_000030.3(AGXT):c.260_271del (p.Glu87_Leu90del) rs1553648333
NM_000030.3(AGXT):c.265G>A (p.Ala89Thr)
NM_000030.3(AGXT):c.275A>G (p.Asn92Ser)
NM_000030.3(AGXT):c.284A>T (p.Glu95Val)
NM_000030.3(AGXT):c.285G>T (p.Glu95Asp)
NM_000030.3(AGXT):c.28C>A (p.Pro10Thr)
NM_000030.3(AGXT):c.28C>G (p.Pro10Ala) rs180177191
NM_000030.3(AGXT):c.317G>A (p.Gly106Asp)
NM_000030.3(AGXT):c.31C>G (p.Pro11Ala) rs375712696
NM_000030.3(AGXT):c.32C>A (p.Pro11His) rs34116584
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg) rs34116584
NM_000030.3(AGXT):c.341A>G (p.Asp114Gly) rs1395056195
NM_000030.3(AGXT):c.353G>C (p.Arg118Pro)
NM_000030.3(AGXT):c.358+56_358+64del rs180177209
NM_000030.3(AGXT):c.358G>A (p.Gly120Arg) rs747043550
NM_000030.3(AGXT):c.368T>A (p.Val123Glu)
NM_000030.3(AGXT):c.385G>C (p.Asp129His) rs180177212
NM_000030.3(AGXT):c.391G>A (p.Gly131Arg)
NM_000030.3(AGXT):c.395G>A (p.Gly132Asp)
NM_000030.3(AGXT):c.418G>A (p.Glu140Lys)
NM_000030.3(AGXT):c.423+36A>C rs180177216
NM_000030.3(AGXT):c.423G>C (p.Glu141Asp) rs180177217
NM_000030.3(AGXT):c.424-12dup rs398122323
NM_000030.3(AGXT):c.437A>G (p.His146Arg)
NM_000030.3(AGXT):c.467G>A (p.Gly156Glu)
NM_000030.3(AGXT):c.491A>T (p.Gln164Leu) rs528938116
NM_000030.3(AGXT):c.4G>A (p.Ala2Thr)
NM_000030.3(AGXT):c.506T>C (p.Phe169Ser)
NM_000030.3(AGXT):c.524+3G>A rs886055839
NM_000030.3(AGXT):c.52C>T (p.Leu18Phe)
NM_000030.3(AGXT):c.536T>C (p.Leu179Pro)
NM_000030.3(AGXT):c.572C>T (p.Thr191Ile)
NM_000030.3(AGXT):c.588C>A (p.Asp196Glu)
NM_000030.3(AGXT):c.615G>A (p.Ser205=)
NM_000030.3(AGXT):c.637G>A (p.Ala213Thr) rs1200591457
NM_000030.3(AGXT):c.680+3G>C
NM_000030.3(AGXT):c.683AGA[3] (p.Lys229dup) rs1553648979
NM_000030.3(AGXT):c.701A>G (p.Lys234Arg)
NM_000030.3(AGXT):c.710C>T (p.Pro237Leu)
NM_000030.3(AGXT):c.719_721del (p.Phe240del)
NM_000030.3(AGXT):c.726G>A (p.Leu242=)
NM_000030.3(AGXT):c.761A>C (p.Asp254Ala)
NM_000030.3(AGXT):c.763G>A (p.Asp255Asn)
NM_000030.3(AGXT):c.774G>T (p.Arg258Ser)
NM_000030.3(AGXT):c.781C>G (p.His261Asp) rs778567956
NM_000030.3(AGXT):c.799A>T (p.Ile267Phe)
NM_000030.3(AGXT):c.809A>G (p.Tyr270Cys)
NM_000030.3(AGXT):c.80G>A (p.Gly27Glu)
NM_000030.3(AGXT):c.815T>C (p.Leu272Pro)
NM_000030.3(AGXT):c.827T>A (p.Leu276Gln)
NM_000030.3(AGXT):c.837T>G (p.Ile279Met) rs180177277
NM_000030.3(AGXT):c.839C>T (p.Ala280Val) rs73106685
NM_000030.3(AGXT):c.845A>G (p.Gln282Arg) rs180177280
NM_000030.3(AGXT):c.847-3C>T
NM_000030.3(AGXT):c.85G>A (p.Gly29Ser)
NM_000030.3(AGXT):c.876C>A (p.Arg292=) rs763852365
NM_000030.3(AGXT):c.876C>T (p.Arg292=)
NM_000030.3(AGXT):c.887C>T (p.Ala296Val)
NM_000030.3(AGXT):c.931G>A (p.Val311Met)
NM_000030.3(AGXT):c.941C>T (p.Pro314Leu)
NM_000030.3(AGXT):c.942+3A>T
NM_000030.3(AGXT):c.943G>A (p.Ala315Thr)
NM_000030.3(AGXT):c.950G>A (p.Arg317Gln) rs200317876
NM_000030.3(AGXT):c.950G>C (p.Arg317Pro)
NM_000030.3(AGXT):c.982G>A (p.Ala328Thr)
NM_000033.4(ABCD1):c.*10C>T rs1057515814
NM_000033.4(ABCD1):c.*12C>T rs1413638807
NM_000033.4(ABCD1):c.*196C>G rs367591611
NM_000033.4(ABCD1):c.*208G>C rs193922092
NM_000033.4(ABCD1):c.*259A>G rs374092960
NM_000033.4(ABCD1):c.*334C>G rs1252368354
NM_000033.4(ABCD1):c.*409C>G rs2091778411
NM_000033.4(ABCD1):c.*476A>G rs372234126
NM_000033.4(ABCD1):c.*481G>T rs199942817
NM_000033.4(ABCD1):c.*548GAGAGGG[1] rs1057515816
NM_000033.4(ABCD1):c.*564G>A rs782819878
NM_000033.4(ABCD1):c.*795C>T rs1057515817
NM_000033.4(ABCD1):c.*802G>T rs879957599
NM_000033.4(ABCD1):c.*805G>C rs879979866
NM_000033.4(ABCD1):c.*825C>T rs1557055736
NM_000033.4(ABCD1):c.*830A>G rs1557055737
NM_000033.4(ABCD1):c.*831G>T rs879964075
NM_000033.4(ABCD1):c.*870G>T rs72616452
NM_000033.4(ABCD1):c.*901G>A rs75637470
NM_000033.4(ABCD1):c.*911G>A rs2091780866
NM_000033.4(ABCD1):c.*948C>T rs112109783
NM_000033.4(ABCD1):c.*969A>G rs1557055778
NM_000033.4(ABCD1):c.*980T>C rs1557055787
NM_000033.4(ABCD1):c.-342G>A rs912340339
NM_000033.4(ABCD1):c.1010A>G (p.Tyr337Cys) rs2091726692
NM_000033.4(ABCD1):c.1020C>A (p.Ser340Arg)
NM_000033.4(ABCD1):c.1021G>A (p.Ala341Thr) rs782492154
NM_000033.4(ABCD1):c.1021G>T (p.Ala341Ser) rs782492154
NM_000033.4(ABCD1):c.1025C>T (p.Ser342Leu)
NM_000033.4(ABCD1):c.1031T>C (p.Leu344Pro) rs2148392029
NM_000033.4(ABCD1):c.1036A>G (p.Met346Val)
NM_000033.4(ABCD1):c.1053C>T (p.Ile351=) rs1887821307
NM_000033.4(ABCD1):c.1075G>A (p.Glu359Lys)
NM_000033.4(ABCD1):c.107T>C (p.Val36Ala)
NM_000033.4(ABCD1):c.1081+5G>T
NM_000033.4(ABCD1):c.1081G>T (p.Asp361Tyr)
NM_000033.4(ABCD1):c.1082-12G>A rs2148395344
NM_000033.4(ABCD1):c.1091C>G (p.Ala364Gly)
NM_000033.4(ABCD1):c.1092C>G (p.Ala364=) rs782250326
NM_000033.4(ABCD1):c.1099A>G (p.Lys367Glu)
NM_000033.4(ABCD1):c.1114AAG[1] (p.Lys373del) rs782627940
NM_000033.4(ABCD1):c.1126G>A (p.Glu376Lys)
NM_000033.4(ABCD1):c.1141_1142delinsTT (p.Arg381Phe)
NM_000033.4(ABCD1):c.1145C>G (p.Thr382Arg) rs2148395416
NM_000033.4(ABCD1):c.1156A>C (p.Thr386Pro) rs1205548762
NM_000033.4(ABCD1):c.1157C>G (p.Thr386Ser) rs1603234474
NM_000033.4(ABCD1):c.1162G>C (p.Ala388Pro) rs2091749101
NM_000033.4(ABCD1):c.1170CCT[1] (p.Leu392del)
NM_000033.4(ABCD1):c.1174C>G (p.Leu392Val)
NM_000033.4(ABCD1):c.1183G>C (p.Ala395Pro) rs1557054176
NM_000033.4(ABCD1):c.1184C>T (p.Ala395Val) rs2148395465
NM_000033.4(ABCD1):c.1192G>A (p.Ala398Thr) rs2148395474
NM_000033.4(ABCD1):c.1193C>T (p.Ala398Val) rs2148395475
NM_000033.4(ABCD1):c.1198G>A (p.Glu400Lys) rs2091749296
NM_000033.4(ABCD1):c.1207A>G (p.Met403Val)
NM_000033.4(ABCD1):c.1211CGT[1] (p.Ser405del) rs2148395492
NM_000033.4(ABCD1):c.1224+4C>T
NM_000033.4(ABCD1):c.1233G>C (p.Glu411Asp)
NM_000033.4(ABCD1):c.1237G>C (p.Ala413Pro) rs1569541011
NM_000033.4(ABCD1):c.1244A>G (p.Tyr415Cys)
NM_000033.4(ABCD1):c.1246A>G (p.Thr416Ala) rs2091749822
NM_000033.4(ABCD1):c.1247C>A (p.Thr416Lys) rs2091749844
NM_000033.4(ABCD1):c.1255G>A (p.Val419Met)
NM_000033.4(ABCD1):c.1255G>C (p.Val419Leu)
NM_000033.4(ABCD1):c.1259A>T (p.His420Leu) rs2091749942
NM_000033.4(ABCD1):c.1273G>A (p.Val425Ile)
NM_000033.4(ABCD1):c.1281A>T (p.Glu427Asp) rs2148395625
NM_000033.4(ABCD1):c.1297C>G (p.His433Asp) rs2091750125
NM_000033.4(ABCD1):c.1393G>A (p.Gly465Ser)
NM_000033.4(ABCD1):c.1394-3C>G
NM_000033.4(ABCD1):c.1394G>A (p.Gly465Asp)
NM_000033.4(ABCD1):c.1405G>C (p.Asp469His)
NM_000033.4(ABCD1):c.1428C>T (p.Cys476=) rs141446687
NM_000033.4(ABCD1):c.1432A>T (p.Asn478Tyr)
NM_000033.4(ABCD1):c.1448C>T (p.Thr483Met) rs1569541035
NM_000033.4(ABCD1):c.1463TGG[2] (p.Val490del) rs1603234766
NM_000033.4(ABCD1):c.1477C>G (p.Leu493Val)
NM_000033.4(ABCD1):c.1487G>C (p.Arg496Thr)
NM_000033.4(ABCD1):c.1488+5G>A
NM_000033.4(ABCD1):c.1488+5G>C rs2091753189
NM_000033.4(ABCD1):c.148G>A (p.Ala50Thr)
NM_000033.4(ABCD1):c.1490T>G (p.Val497Gly)
NM_000033.4(ABCD1):c.1502T>G (p.Met501Arg)
NM_000033.4(ABCD1):c.1511T>C (p.Leu504Pro)
NM_000033.4(ABCD1):c.1514T>C (p.Ile505Thr) rs1557054740
NM_000033.4(ABCD1):c.1516A>G (p.Thr506Ala)
NM_000033.4(ABCD1):c.1517C>G (p.Thr506Arg)
NM_000033.4(ABCD1):c.1517C>T (p.Thr506Ile) rs2091762306
NM_000033.4(ABCD1):c.1523C>A (p.Pro508His) rs1569541087
NM_000033.4(ABCD1):c.1533C>G (p.Cys511Trp) rs782370364
NM_000033.4(ABCD1):c.1568T>C (p.Leu523Pro) rs2091762647
NM_000033.4(ABCD1):c.1573C>A (p.Pro525Thr)
NM_000033.4(ABCD1):c.1577C>G (p.Thr526Arg) rs2091762670
NM_000033.4(ABCD1):c.1591C>T (p.Leu531Phe) rs2148397623
NM_000033.4(ABCD1):c.1599G>T (p.Lys533Asn) rs1569541092
NM_000033.4(ABCD1):c.1615A>G (p.Met539Val) rs782440686
NM_000033.4(ABCD1):c.1618T>C (p.Phe540Leu)
NM_000033.4(ABCD1):c.161C>T (p.Thr54Met)
NM_000033.4(ABCD1):c.1620C>G (p.Phe540Leu)
NM_000033.4(ABCD1):c.1622A>G (p.Tyr541Cys) rs2148397662
NM_000033.4(ABCD1):c.1625T>C (p.Ile542Thr)
NM_000033.4(ABCD1):c.1628C>G (p.Pro543Arg) rs1557054776
NM_000033.4(ABCD1):c.1635-3C>G rs2148397866
NM_000033.4(ABCD1):c.1635G>A (p.Arg545=)
NM_000033.4(ABCD1):c.1637C>T (p.Pro546Leu) rs1603235394
NM_000033.4(ABCD1):c.1642A>G (p.Met548Val) rs201054474
NM_000033.4(ABCD1):c.1644G>A (p.Met548Ile) rs1569541112
NM_000033.4(ABCD1):c.1651G>T (p.Gly551Cys) rs2148397892
NM_000033.4(ABCD1):c.1652G>A (p.Gly551Asp) rs2148397896
NM_000033.4(ABCD1):c.1652G>T (p.Gly551Val)
NM_000033.4(ABCD1):c.1657C>G (p.Leu553Val) rs2148397902
NM_000033.4(ABCD1):c.1660C>T (p.Arg554Cys)
NM_000033.4(ABCD1):c.1663G>T (p.Asp555Tyr)
NM_000033.4(ABCD1):c.1668G>T (p.Gln556His) rs2091764450
NM_000033.4(ABCD1):c.1670T>C (p.Val557Ala)
NM_000033.4(ABCD1):c.1675T>C (p.Tyr559His) rs2091764510
NM_000033.4(ABCD1):c.1681G>A (p.Asp561Asn) rs2091764566
NM_000033.4(ABCD1):c.1681G>T (p.Asp561Tyr)
NM_000033.4(ABCD1):c.1684T>A (p.Ser562Thr) rs2091764595
NM_000033.4(ABCD1):c.1684T>C (p.Ser562Pro) rs2091764595
NM_000033.4(ABCD1):c.1696A>G (p.Met566Val)
NM_000033.4(ABCD1):c.1706A>G (p.Lys569Arg) rs2091764661
NM_000033.4(ABCD1):c.1715C>T (p.Ser572Leu)
NM_000033.4(ABCD1):c.1743CGT[1] (p.Val583del) rs1557054859
NM_000033.4(ABCD1):c.1748T>C (p.Val583Ala)
NM_000033.4(ABCD1):c.1763T>A (p.Ile588Asn) rs1569541122
NM_000033.4(ABCD1):c.1774G>A (p.Glu592Lys)
NM_000033.4(ABCD1):c.1778G>C (p.Gly593Ala)
NM_000033.4(ABCD1):c.1780+5_1780+6insT
NM_000033.4(ABCD1):c.1794G>T (p.Met598Ile)
NM_000033.4(ABCD1):c.179T>C (p.Val60Ala)
NM_000033.4(ABCD1):c.1814T>C (p.Leu605Pro) rs2148399015
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro) rs201774661
NM_000033.4(ABCD1):c.181G>T (p.Ala61Ser)
NM_000033.4(ABCD1):c.1820G>A (p.Gly607Asp) rs2091772324
NM_000033.4(ABCD1):c.1823G>A (p.Gly608Asp) rs78993751
NM_000033.4(ABCD1):c.1850G>T (p.Arg617Leu)
NM_000033.4(ABCD1):c.1857C>A (p.Phe619Leu)
NM_000033.4(ABCD1):c.1866-15G>A
NM_000033.4(ABCD1):c.1876_1877delinsTT (p.Ala626Phe)
NM_000033.4(ABCD1):c.1880T>C (p.Leu627Pro) rs2148399201
NM_000033.4(ABCD1):c.1900G>A (p.Ala634Thr) rs782041940
NM_000033.4(ABCD1):c.1903G>A (p.Val635Met)
NM_000033.4(ABCD1):c.1904_1912del (p.Val635_Ile637del)
NM_000033.4(ABCD1):c.1912G>A (p.Asp638Asn) rs886044887
NM_000033.4(ABCD1):c.1912G>C (p.Asp638His) rs886044887
NM_000033.4(ABCD1):c.1924A>G (p.Lys642Glu)
NM_000033.4(ABCD1):c.1928T>A (p.Ile643Asn)
NM_000033.4(ABCD1):c.1945G>A (p.Asp649Asn)
NM_000033.4(ABCD1):c.1948G>A (p.Ala650Thr) rs1557055332
NM_000033.4(ABCD1):c.1948G>C (p.Ala650Pro) rs1557055332
NM_000033.4(ABCD1):c.1949C>T (p.Ala650Val) rs1557055333
NM_000033.4(ABCD1):c.1952G>T (p.Gly651Val) rs2091773987
NM_000033.4(ABCD1):c.1961_1975dup (p.Leu654_Thr658dup) rs2091774003
NM_000033.4(ABCD1):c.1964T>A (p.Leu655His)
NM_000033.4(ABCD1):c.1966T>C (p.Ser656Pro) rs2148399307
NM_000033.4(ABCD1):c.1972A>G (p.Thr658Ala) rs2148399309
NM_000033.4(ABCD1):c.1975C>T (p.His659Tyr) rs2091774102
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln) rs1557055340
NM_000033.4(ABCD1):c.1982C>T (p.Pro661Leu)
NM_000033.4(ABCD1):c.1984T>C (p.Ser662Pro) rs2148399322
NM_000033.4(ABCD1):c.1991+3A>G
NM_000033.4(ABCD1):c.1991+68_1992-4del rs1603236039
NM_000033.4(ABCD1):c.1992-2A>C rs797044626
NM_000033.4(ABCD1):c.1992-2A>G rs797044626
NM_000033.4(ABCD1):c.1992-6G>A
NM_000033.4(ABCD1):c.1997A>C (p.Tyr666Ser) rs2091775035
NM_000033.4(ABCD1):c.1997A>G (p.Tyr666Cys) rs2091775035
NM_000033.4(ABCD1):c.2002A>C (p.Thr668Pro) rs1603236086
NM_000033.4(ABCD1):c.2002A>G (p.Thr668Ala) rs1603236086
NM_000033.4(ABCD1):c.2007C>G (p.His669Gln) rs2148399466
NM_000033.4(ABCD1):c.2011C>G (p.Leu671Val)
NM_000033.4(ABCD1):c.2017T>G (p.Phe673Val)
NM_000033.4(ABCD1):c.2020G>C (p.Asp674His)
NM_000033.4(ABCD1):c.2044G>A (p.Glu682Lys)
NM_000033.4(ABCD1):c.2050_2051delinsGG (p.Leu684Gly)
NM_000033.4(ABCD1):c.2053G>A (p.Asp685Asn)
NM_000033.4(ABCD1):c.2056T>G (p.Ser686Ala)
NM_000033.4(ABCD1):c.2066G>A (p.Arg689His)
NM_000033.4(ABCD1):c.2072G>C (p.Ser691Thr) rs2091775448
NM_000033.4(ABCD1):c.2073C>A (p.Ser691Arg)
NM_000033.4(ABCD1):c.2073C>G (p.Ser691Arg)
NM_000033.4(ABCD1):c.2078C>T (p.Thr693Met) rs782311214
NM_000033.4(ABCD1):c.2089C>A (p.Gln697Lys)
NM_000033.4(ABCD1):c.208G>C (p.Val70Leu) rs782701925
NM_000033.4(ABCD1):c.2106_2122del (p.Leu703fs)
NM_000033.4(ABCD1):c.2120C>T (p.Pro707Leu)
NM_000033.4(ABCD1):c.2127G>T (p.Met709Ile)
NM_000033.4(ABCD1):c.2132G>A (p.Arg711Gln)
NM_000033.4(ABCD1):c.2135G>A (p.Arg712His) rs1557055447
NM_000033.4(ABCD1):c.2152C>T (p.Gln718Ter)
NM_000033.4(ABCD1):c.2157C>G (p.Ile719Met)
NM_000033.4(ABCD1):c.2163C>T (p.Gly721=)
NM_000033.4(ABCD1):c.2178_2220del (p.Ala727fs)
NM_000033.4(ABCD1):c.2180C>T (p.Ala727Val)
NM_000033.4(ABCD1):c.2188C>T (p.Pro730Ser) rs1603236153
NM_000033.4(ABCD1):c.2189C>G (p.Pro730Arg)
NM_000033.4(ABCD1):c.2205dup (p.Gly736fs)
NM_000033.4(ABCD1):c.2216G>T (p.Gly739Val)
NM_000033.4(ABCD1):c.2221C>T (p.Gln741Ter) rs2091776291
NM_000033.4(ABCD1):c.2228C>A (p.Ala743Asp) rs1603236168
NM_000033.4(ABCD1):c.2238A>G (p.Ter746Trp)
NM_000033.4(ABCD1):c.224T>C (p.Leu75Pro)
NM_000033.4(ABCD1):c.229_237del (p.Trp77_Leu79del) rs1569540680
NM_000033.4(ABCD1):c.22C>A (p.Arg8=) rs2091702555
NM_000033.4(ABCD1):c.22C>T (p.Arg8Trp)
NM_000033.4(ABCD1):c.233T>A (p.Leu78His)
NM_000033.4(ABCD1):c.233T>G (p.Leu78Arg)
NM_000033.4(ABCD1):c.238C>T (p.Arg80Trp) rs868977355
NM_000033.4(ABCD1):c.239_240insTTTGCG (p.Leu81_Leu82insArgLeu)
NM_000033.4(ABCD1):c.254G>C (p.Arg85Pro) rs782221851
NM_000033.4(ABCD1):c.254G>T (p.Arg85Leu) rs782221851
NM_000033.4(ABCD1):c.254_280del (p.Arg85_Leu93del) rs2091704899
NM_000033.4(ABCD1):c.257T>A (p.Val86Asp) rs2148388871
NM_000033.4(ABCD1):c.263G>A (p.Cys88Tyr) rs2091705016
NM_000033.4(ABCD1):c.283G>C (p.Ala95Pro)
NM_000033.4(ABCD1):c.292T>C (p.Ser98Pro)
NM_000033.4(ABCD1):c.298G>C (p.Ala100Pro) rs1557052298
NM_000033.4(ABCD1):c.301T>G (p.Leu101Val)
NM_000033.4(ABCD1):c.302T>C (p.Leu101Ser)
NM_000033.4(ABCD1):c.304G>A (p.Val102Met) rs2148388959
NM_000033.4(ABCD1):c.32G>C (p.Arg11Pro) rs782122122
NM_000033.4(ABCD1):c.332T>C (p.Val111Ala)
NM_000033.4(ABCD1):c.338G>A (p.Arg113His) rs1322406234
NM_000033.4(ABCD1):c.389T>C (p.Phe130Ser)
NM_000033.4(ABCD1):c.394T>C (p.Trp132Arg)
NM_000033.4(ABCD1):c.431C>T (p.Ala144Val)
NM_000033.4(ABCD1):c.452T>C (p.Ile151Thr) rs1569540692
NM_000033.4(ABCD1):c.467G>A (p.Gly156Asp) rs2091707109
NM_000033.4(ABCD1):c.473T>A (p.Leu158Gln)
NM_000033.4(ABCD1):c.479T>C (p.Leu160Pro) rs2091707324
NM_000033.4(ABCD1):c.485T>C (p.Phe162Ser) rs2148389278
NM_000033.4(ABCD1):c.499G>C (p.Val167Leu)
NM_000033.4(ABCD1):c.503C>T (p.Ala168Val)
NM_000033.4(ABCD1):c.509C>T (p.Ala170Val)
NM_000033.4(ABCD1):c.524T>A (p.Phe175Tyr) rs1569540700
NM_000033.4(ABCD1):c.526T>A (p.Ser176Thr)
NM_000033.4(ABCD1):c.530A>T (p.Gln177Leu) rs2091708007
NM_000033.4(ABCD1):c.533A>C (p.Gln178Pro) rs2091708025
NM_000033.4(ABCD1):c.539A>C (p.Tyr180Ser)
NM_000033.4(ABCD1):c.539A>G (p.Tyr180Cys) rs2091708150
NM_000033.4(ABCD1):c.542A>C (p.Tyr181Ser) rs1557052401
NM_000033.4(ABCD1):c.544C>G (p.Arg182Gly) rs1603232005
NM_000033.4(ABCD1):c.545G>A (p.Arg182Gln) rs1383386358
NM_000033.4(ABCD1):c.562G>T (p.Gly188Trp)
NM_000033.4(ABCD1):c.571C>T (p.Arg191Cys)
NM_000033.4(ABCD1):c.575_592dup (p.Leu197_Thr198insAsnProAspGlnSerLeu)
NM_000033.4(ABCD1):c.583C>A (p.Gln195Lys)
NM_000033.4(ABCD1):c.584A>G (p.Gln195Arg)
NM_000033.4(ABCD1):c.590T>G (p.Leu197Arg)
NM_000033.4(ABCD1):c.595G>A (p.Glu199Lys) rs1569540705
NM_000033.4(ABCD1):c.600C>A (p.Asp200Glu) rs782724538
NM_000033.4(ABCD1):c.620C>T (p.Ser207Phe)
NM_000033.4(ABCD1):c.631C>T (p.Leu211Phe) rs2148389513
NM_000033.4(ABCD1):c.638C>A (p.Ser213Tyr) rs782567718
NM_000033.4(ABCD1):c.638C>T (p.Ser213Phe) rs782567718
NM_000033.4(ABCD1):c.644T>C (p.Leu215Pro) rs2148389537
NM_000033.4(ABCD1):c.647C>A (p.Thr216Asn)
NM_000033.4(ABCD1):c.647C>T (p.Thr216Ile) rs1603232050
NM_000033.4(ABCD1):c.653C>T (p.Pro218Leu) rs1569540710
NM_000033.4(ABCD1):c.65T>C (p.Leu22Pro)
NM_000033.4(ABCD1):c.664G>A (p.Val222Met)
NM_000033.4(ABCD1):c.665T>G (p.Val222Gly)
NM_000033.4(ABCD1):c.671T>G (p.Val224Gly) rs2148389598
NM_000033.4(ABCD1):c.685C>G (p.Leu229Val) rs2091709505
NM_000033.4(ABCD1):c.700C>G (p.Arg234Gly)
NM_000033.4(ABCD1):c.700C>T (p.Arg234Cys) rs1557052478
NM_000033.4(ABCD1):c.701G>T (p.Arg234Leu) rs782723557
NM_000033.4(ABCD1):c.706C>G (p.Arg236Gly)
NM_000033.4(ABCD1):c.712G>A (p.Ala238Thr)
NM_000033.4(ABCD1):c.712G>T (p.Ala238Ser)
NM_000033.4(ABCD1):c.716G>T (p.Gly239Val)
NM_000033.4(ABCD1):c.728C>G (p.Pro243Arg)
NM_000033.4(ABCD1):c.743G>A (p.Gly248Asp)
NM_000033.4(ABCD1):c.748G>A (p.Val250Met)
NM_000033.4(ABCD1):c.754T>C (p.Phe252Leu)
NM_000033.4(ABCD1):c.763G>C (p.Ala255Pro)
NM_000033.4(ABCD1):c.773T>C (p.Leu258Pro) rs1569540731
NM_000033.4(ABCD1):c.775C>T (p.Arg259Trp)
NM_000033.4(ABCD1):c.778G>T (p.Ala260Ser)
NM_000033.4(ABCD1):c.794T>C (p.Phe265Ser) rs1603232171
NM_000033.4(ABCD1):c.794T>G (p.Phe265Cys)
NM_000033.4(ABCD1):c.799G>A (p.Glu267Lys)
NM_000033.4(ABCD1):c.7G>C (p.Val3Leu)
NM_000033.4(ABCD1):c.805G>A (p.Val269Met) rs2091711117
NM_000033.4(ABCD1):c.806T>G (p.Val269Gly)
NM_000033.4(ABCD1):c.815A>G (p.Glu272Gly) rs2091711183
NM_000033.4(ABCD1):c.817G>T (p.Ala273Ser) rs1324272283
NM_000033.4(ABCD1):c.818C>A (p.Ala273Glu) rs868992338
NM_000033.4(ABCD1):c.828G>T (p.Lys276Asn)
NM_000033.4(ABCD1):c.839G>A (p.Arg280His) rs781904944
NM_000033.4(ABCD1):c.839G>C (p.Arg280Pro) rs781904944
NM_000033.4(ABCD1):c.848A>C (p.His283Pro)
NM_000033.4(ABCD1):c.853C>A (p.Arg285Ser) rs782334088
NM_000033.4(ABCD1):c.85G>C (p.Ala29Pro)
NM_000033.4(ABCD1):c.86C>A (p.Ala29Asp)
NM_000033.4(ABCD1):c.892G>A (p.Gly298Ser) rs1603232243
NM_000033.4(ABCD1):c.896A>G (p.His299Arg) rs782430461
NM_000033.4(ABCD1):c.900+2T>G rs2091712381
NM_000033.4(ABCD1):c.900+7C>T rs2091712393
NM_000033.4(ABCD1):c.923G>C (p.Arg308Pro) rs781978255
NM_000033.4(ABCD1):c.926C>T (p.Ser309Phe)
NM_000033.4(ABCD1):c.92A>G (p.Lys31Arg)
NM_000033.4(ABCD1):c.932A>G (p.Gln311Arg)
NM_000033.4(ABCD1):c.938T>A (p.Leu313Gln) rs2091726449
NM_000033.4(ABCD1):c.943T>C (p.Ser315Pro) rs2091726463
NM_000033.4(ABCD1):c.955C>T (p.Leu319Phe) rs879952582
NM_000033.4(ABCD1):c.956T>C (p.Leu319Pro)
NM_000033.4(ABCD1):c.967G>A (p.Glu323Lys)
NM_000033.4(ABCD1):c.971G>A (p.Arg324His)
NM_000033.4(ABCD1):c.971G>C (p.Arg324Pro) rs148904415
NM_000033.4(ABCD1):c.982G>A (p.Val328Ile) rs2148391987
NM_000033.4(ABCD1):c.983T>G (p.Val328Gly) rs2148391989
NM_000033.4(ABCD1):c.986T>C (p.Met329Thr)
NM_000033.4(ABCD1):c.992A>G (p.Glu331Gly) rs1557053241
NM_000033.4(ABCD1):c.995A>G (p.Gln332Arg)
NM_000033.4(ABCD1):c.997T>A (p.Phe333Ile)
NM_000286.3(PEX12):c.*474A>G rs886052828
NM_000286.3(PEX12):c.*520A>G rs1298505668
NM_000286.3(PEX12):c.*767CTAAT[1] rs886052825
NM_000286.3(PEX12):c.*778G>A rs886052824
NM_000286.3(PEX12):c.*783A>C rs571975070
NM_000286.3(PEX12):c.-145C>T rs886052832
NM_000286.3(PEX12):c.-26G>A rs727504080
NM_000286.3(PEX12):c.-340G>T rs886052833
NM_000286.3(PEX12):c.-360G>A rs2072800546
NM_000286.3(PEX12):c.1006C>T (p.His336Tyr) rs2142228771
NM_000286.3(PEX12):c.1008C>A (p.His336Gln) rs1291823697
NM_000286.3(PEX12):c.1012G>A (p.Ala338Thr) rs2072781374
NM_000286.3(PEX12):c.1021A>G (p.Ile341Val)
NM_000286.3(PEX12):c.1023del (p.Thr342fs) rs1555549723
NM_000286.3(PEX12):c.1024A>G (p.Thr342Ala)
NM_000286.3(PEX12):c.1025C>T (p.Thr342Ile)
NM_000286.3(PEX12):c.1027G>A (p.Gly343Ser) rs2142228742
NM_000286.3(PEX12):c.103C>A (p.Pro35Thr)
NM_000286.3(PEX12):c.1060C>G (p.Leu354Val) rs928085463
NM_000286.3(PEX12):c.1060C>T (p.Leu354Phe) rs928085463
NM_000286.3(PEX12):c.1067C>T (p.Ser356Phe)
NM_000286.3(PEX12):c.106G>C (p.Ala36Pro) rs2142231624
NM_000286.3(PEX12):c.106_107delinsAT (p.Ala36Ile)
NM_000286.3(PEX12):c.1070_1071del (p.Pro357fs) rs1555549722
NM_000286.3(PEX12):c.116A>G (p.His39Arg)
NM_000286.3(PEX12):c.117T>G (p.His39Gln) rs727504078
NM_000286.3(PEX12):c.124A>C (p.Lys42Gln)
NM_000286.3(PEX12):c.126+3A>G rs2072796615
NM_000286.3(PEX12):c.127-3T>A rs2142231281
NM_000286.3(PEX12):c.13G>A (p.Gly5Arg) rs2142231778
NM_000286.3(PEX12):c.143A>T (p.Asn48Ile)
NM_000286.3(PEX12):c.145C>G (p.Pro49Ala) rs2142231256
NM_000286.3(PEX12):c.16G>A (p.Ala6Thr) rs1344931108
NM_000286.3(PEX12):c.18_41del (p.His7_Ala14del) rs1555549917
NM_000286.3(PEX12):c.200A>G (p.Asp67Gly) rs2072793873
NM_000286.3(PEX12):c.201TCT[1] (p.Leu70del) rs61752098
NM_000286.3(PEX12):c.203T>A (p.Leu68His) rs2072793797
NM_000286.3(PEX12):c.207_209del (p.Leu70del)
NM_000286.3(PEX12):c.218A>G (p.His73Arg)
NM_000286.3(PEX12):c.220T>C (p.Tyr74His)
NM_000286.3(PEX12):c.233C>T (p.Thr78Ile)
NM_000286.3(PEX12):c.238G>A (p.Ala80Thr)
NM_000286.3(PEX12):c.239C>T (p.Ala80Val) rs2072793061
NM_000286.3(PEX12):c.244T>C (p.Phe82Leu) rs2142231070
NM_000286.3(PEX12):c.272G>C (p.Arg91Thr) rs2142231028
NM_000286.3(PEX12):c.29C>T (p.Ala10Val)
NM_000286.3(PEX12):c.302A>G (p.Gln101Arg)
NM_000286.3(PEX12):c.305G>C (p.Arg102Thr) rs2072792418
NM_000286.3(PEX12):c.349A>C (p.Ile117Leu)
NM_000286.3(PEX12):c.353T>C (p.Met118Thr) rs879075660
NM_000286.3(PEX12):c.354G>A (p.Met118Ile) rs1025113717
NM_000286.3(PEX12):c.361G>T (p.Val121Phe)
NM_000286.3(PEX12):c.362TTC[2] (p.Leu123del) rs751058068
NM_000286.3(PEX12):c.373T>C (p.Tyr125His) rs2142230828
NM_000286.3(PEX12):c.374A>T (p.Tyr125Phe)
NM_000286.3(PEX12):c.382G>A (p.Val128Met) rs2142230817
NM_000286.3(PEX12):c.391G>A (p.Glu131Lys) rs768259519
NM_000286.3(PEX12):c.391_408dup (p.Glu131_Ser136dup) rs2142230787
NM_000286.3(PEX12):c.392_400del (p.Glu131_Leu133del) rs1458853023
NM_000286.3(PEX12):c.398T>C (p.Leu133Pro)
NM_000286.3(PEX12):c.413G>T (p.Arg138Ile) rs1269271203
NM_000286.3(PEX12):c.415G>A (p.Glu139Lys)
NM_000286.3(PEX12):c.424G>A (p.Glu142Lys) rs2142230751
NM_000286.3(PEX12):c.428A>G (p.Tyr143Cys)
NM_000286.3(PEX12):c.430T>C (p.Ser144Pro) rs2072791318
NM_000286.3(PEX12):c.437A>G (p.His146Arg)
NM_000286.3(PEX12):c.43G>A (p.Asp15Asn) rs200048804
NM_000286.3(PEX12):c.44A>C (p.Asp15Ala)
NM_000286.3(PEX12):c.461G>A (p.Arg154Gln) rs564816937
NM_000286.3(PEX12):c.485C>G (p.Ala162Gly) rs2142230649
NM_000286.3(PEX12):c.505G>A (p.Ala169Thr) rs2142230618
NM_000286.3(PEX12):c.514G>A (p.Gly172Arg) rs202025715
NM_000286.3(PEX12):c.51G>C (p.Gln17His)
NM_000286.3(PEX12):c.524T>G (p.Leu175Arg)
NM_000286.3(PEX12):c.526G>A (p.Val176Ile)
NM_000286.3(PEX12):c.531A>G (p.Gln177=)
NM_000286.3(PEX12):c.535C>T (p.Leu179Phe)
NM_000286.3(PEX12):c.538C>G (p.Arg180Gly) rs61752103
NM_000286.3(PEX12):c.541T>C (p.Tyr181His)
NM_000286.3(PEX12):c.544A>C (p.Ile182Leu)
NM_000286.3(PEX12):c.546C>G (p.Ile182Met)
NM_000286.3(PEX12):c.565C>T (p.His189Tyr) rs1336163775
NM_000286.3(PEX12):c.571C>A (p.Pro191Thr) rs2072790056
NM_000286.3(PEX12):c.586G>C (p.Ala196Pro)
NM_000286.3(PEX12):c.599T>C (p.Leu200Pro)
NM_000286.3(PEX12):c.608T>C (p.Leu203Pro) rs896156854
NM_000286.3(PEX12):c.635A>G (p.Glu212Gly)
NM_000286.3(PEX12):c.641A>G (p.Lys214Arg)
NM_000286.3(PEX12):c.680+3A>G
NM_000286.3(PEX12):c.680G>A (p.Ser227Asn) rs1428801230
NM_000286.3(PEX12):c.727G>A (p.Val243Ile)
NM_000286.3(PEX12):c.727G>T (p.Val243Phe)
NM_000286.3(PEX12):c.739C>G (p.Leu247Val) rs1030736075
NM_000286.3(PEX12):c.740T>C (p.Leu247Pro)
NM_000286.3(PEX12):c.760G>A (p.Gly254Ser)
NM_000286.3(PEX12):c.761G>C (p.Gly254Ala) rs2072783485
NM_000286.3(PEX12):c.768CTT[1] (p.Phe257del) rs1567729860
NM_000286.3(PEX12):c.781C>T (p.Leu261Phe)
NM_000286.3(PEX12):c.799T>C (p.Ser267Pro) rs2142229155
NM_000286.3(PEX12):c.822G>C (p.Lys274Asn)
NM_000286.3(PEX12):c.827T>C (p.Leu276Ser)
NM_000286.3(PEX12):c.83G>A (p.Ser28Asn)
NM_000286.3(PEX12):c.844C>G (p.Pro282Ala)
NM_000286.3(PEX12):c.857T>C (p.Val286Ala)
NM_000286.3(PEX12):c.860A>T (p.His287Leu) rs2142229061
NM_000286.3(PEX12):c.865_870del (p.Asp289_Tyr290del) rs1366848752
NM_000286.3(PEX12):c.872A>C (p.Asn291Thr)
NM_000286.3(PEX12):c.877G>A (p.Asp293Asn) rs2142229035
NM_000286.3(PEX12):c.886C>G (p.Leu296Val)
NM_000286.3(PEX12):c.886C>T (p.Leu296Phe)
NM_000286.3(PEX12):c.889T>G (p.Leu297Val)
NM_000286.3(PEX12):c.892C>T (p.Pro298Ser) rs2072782397
NM_000286.3(PEX12):c.908T>C (p.Val303Ala) rs2142228949
NM_000286.3(PEX12):c.913C>T (p.Pro305Ser) rs1444133628
NM_000286.3(PEX12):c.939T>A (p.Asn313Lys)
NM_000286.3(PEX12):c.944C>A (p.Thr315Asn) rs2142228884
NM_000286.3(PEX12):c.947T>G (p.Val316Gly)
NM_000286.3(PEX12):c.949C>T (p.Leu317Phe) rs61752112
NM_000286.3(PEX12):c.94G>A (p.Ala32Thr) rs2142231638
NM_000286.3(PEX12):c.967G>C (p.Val323Leu) rs2142228853
NM_000286.3(PEX12):c.979C>T (p.Arg327Cys)
NM_000286.3(PEX12):c.980G>A (p.Arg327His)
NM_000286.3(PEX12):c.987_988del (p.Phe330fs) rs764657253
NM_000286.3(PEX12):c.9G>C (p.Glu3Asp) rs2072797963
NM_000287.4(PEX6):c.*368G>A rs866465109
NM_000287.4(PEX6):c.*407T>G rs886061409
NM_000287.4(PEX6):c.1010A>T (p.Tyr337Phe)
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.1018G>A (p.Val340Ile)
NM_000287.4(PEX6):c.1036C>A (p.Gln346Lys)
NM_000287.4(PEX6):c.1046+3_1046+5dup
NM_000287.4(PEX6):c.1047-3C>T rs2150235001
NM_000287.4(PEX6):c.104_109dup (p.Leu36_Val37insGlyLeu)
NM_000287.4(PEX6):c.106C>A (p.Leu36Met) rs758416830
NM_000287.4(PEX6):c.1075G>C (p.Val359Leu) rs2150234968
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.1110A>G (p.Gly370=) rs886061411
NM_000287.4(PEX6):c.1130+1G>T rs267608213
NM_000287.4(PEX6):c.1130+6C>T rs2150234879
NM_000287.4(PEX6):c.1131-3C>A
NM_000287.4(PEX6):c.1131G>A (p.Arg377=)
NM_000287.4(PEX6):c.1135C>T (p.Arg379Trp)
NM_000287.4(PEX6):c.1136G>A (p.Arg379Gln)
NM_000287.4(PEX6):c.1138G>A (p.Glu380Lys)
NM_000287.4(PEX6):c.1152_1154del (p.Val385del) rs1770004572
NM_000287.4(PEX6):c.115G>A (p.Ala39Thr)
NM_000287.4(PEX6):c.1166T>C (p.Val389Ala) rs1043201555
NM_000287.4(PEX6):c.1178C>T (p.Pro393Leu)
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.1223C>G (p.Ser408Cys)
NM_000287.4(PEX6):c.1226T>C (p.Leu409Ser) rs1355523119
NM_000287.4(PEX6):c.1232T>C (p.Met411Thr) rs566310924
NM_000287.4(PEX6):c.1234G>A (p.Val412Met)
NM_000287.4(PEX6):c.1238G>T (p.Gly413Val) rs1554127531
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.1264C>T (p.Leu422Phe)
NM_000287.4(PEX6):c.127G>T (p.Ala43Ser) rs1770442809
NM_000287.4(PEX6):c.1299G>T (p.Leu433Phe)
NM_000287.4(PEX6):c.1301C>T (p.Ser434Phe)
NM_000287.4(PEX6):c.1310G>A (p.Gly437Asp) rs771063294
NM_000287.4(PEX6):c.133_147dup (p.Glu45_Gly49dup) rs1421584986
NM_000287.4(PEX6):c.1350_1351delinsAA (p.Pro451Thr)
NM_000287.4(PEX6):c.1354C>G (p.Arg452Gly)
NM_000287.4(PEX6):c.1357C>T (p.Leu453Phe) rs1769988827
NM_000287.4(PEX6):c.1367+6T>C rs2114247326
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.137G>C (p.Ser46Thr)
NM_000287.4(PEX6):c.1382C>G (p.Thr461Arg) rs2114246115
NM_000287.4(PEX6):c.1388C>T (p.Thr463Ile)
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.1401_1403del (p.Leu468del) rs1222318292
NM_000287.4(PEX6):c.140C>A (p.Pro47Gln) rs1299683224
NM_000287.4(PEX6):c.1414C>G (p.Pro472Ala)
NM_000287.4(PEX6):c.1415C>T (p.Pro472Leu) rs1769951744
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.1440TGC[2] (p.Ala483del) rs1554127389
NM_000287.4(PEX6):c.1456C>T (p.His486Tyr) rs1320010518
NM_000287.4(PEX6):c.1463G>A (p.Gly488Glu)
NM_000287.4(PEX6):c.1478A>T (p.Lys493Met)
NM_000287.4(PEX6):c.1479+4A>T rs2114245810
NM_000287.4(PEX6):c.1479+6_1479+9del
NM_000287.4(PEX6):c.1483C>T (p.Pro495Ser)
NM_000287.4(PEX6):c.1489T>C (p.Ser497Pro) rs2114245129
NM_000287.4(PEX6):c.1513G>A (p.Gly505Arg) rs1769929969
NM_000287.4(PEX6):c.1519G>A (p.Val507Met)
NM_000287.4(PEX6):c.1519G>C (p.Val507Leu) rs1355702643
NM_000287.4(PEX6):c.152C>T (p.Ala51Val)
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.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.1556G>T (p.Arg519Leu)
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.1570G>A (p.Ala524Thr)
NM_000287.4(PEX6):c.1586C>T (p.Thr529Ile) rs771639281
NM_000287.4(PEX6):c.1588G>T (p.Ala530Ser)
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.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.1634C>T (p.Ala545Val) rs2114244672
NM_000287.4(PEX6):c.1639G>A (p.Val547Met)
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.1672G>A (p.Glu558Lys)
NM_000287.4(PEX6):c.1681C>T (p.Leu561Phe)
NM_000287.4(PEX6):c.1685A>G (p.Asn562Ser)
NM_000287.4(PEX6):c.1689-3C>T rs769573987
NM_000287.4(PEX6):c.1699C>A (p.Leu567Ile)
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.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.1741G>A (p.Ala581Thr) rs1316254924
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.1777G>T (p.Val593Leu)
NM_000287.4(PEX6):c.1783G>A (p.Ala595Thr)
NM_000287.4(PEX6):c.1789T>C (p.Ser597Pro)
NM_000287.4(PEX6):c.179C>T (p.Pro60Leu)
NM_000287.4(PEX6):c.1816C>T (p.Arg606Trp)
NM_000287.4(PEX6):c.181G>A (p.Asp61Asn)
NM_000287.4(PEX6):c.1823T>C (p.Leu608Pro) rs1561821635
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.1849G>A (p.Glu617Lys)
NM_000287.4(PEX6):c.1866G>T (p.Gln622His)
NM_000287.4(PEX6):c.1870G>T (p.Ala624Ser)
NM_000287.4(PEX6):c.1871C>T (p.Ala624Val) rs2114242326
NM_000287.4(PEX6):c.1873C>T (p.Arg625Trp)
NM_000287.4(PEX6):c.1874G>A (p.Arg625Gln) rs1769868642
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.1900G>A (p.Asp634Asn) rs2114241000
NM_000287.4(PEX6):c.1900G>T (p.Asp634Tyr)
NM_000287.4(PEX6):c.1910C>G (p.Ala637Gly) rs2114240982
NM_000287.4(PEX6):c.1922A>C (p.His641Pro)
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.196G>A (p.Glu66Lys)
NM_000287.4(PEX6):c.1970G>A (p.Gly657Asp) rs2114240555
NM_000287.4(PEX6):c.1982A>C (p.Glu661Ala) rs2114240531
NM_000287.4(PEX6):c.1993G>T (p.Gly665Trp)
NM_000287.4(PEX6):c.1998G>T (p.Glu666Asp)
NM_000287.4(PEX6):c.2017C>T (p.Pro673Ser)
NM_000287.4(PEX6):c.2018C>G (p.Pro673Arg) rs2114240452
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.205C>T (p.Pro69Ser)
NM_000287.4(PEX6):c.2066C>T (p.Ala689Val) rs1396207688
NM_000287.4(PEX6):c.208G>A (p.Gly70Arg) rs2150240598
NM_000287.4(PEX6):c.2093A>G (p.Lys698Arg) rs2114240305
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.2094G>A (p.Lys698=)
NM_000287.4(PEX6):c.2111G>C (p.Trp704Ser)
NM_000287.4(PEX6):c.2125G>A (p.Gly709Arg) rs1254717257
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.2167C>G (p.Leu723Val)
NM_000287.4(PEX6):c.2171C>T (p.Pro724Leu) rs201270008
NM_000287.4(PEX6):c.2192T>G (p.Leu731Arg)
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.2224C>T (p.Leu742Phe)
NM_000287.4(PEX6):c.2241C>T (p.Gly747=) rs2114239728
NM_000287.4(PEX6):c.224T>C (p.Leu75Pro)
NM_000287.4(PEX6):c.2261C>T (p.Ala754Val)
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.2301C>T (p.Ser767=)
NM_000287.4(PEX6):c.2302G>A (p.Val768Met)
NM_000287.4(PEX6):c.2306A>C (p.Lys769Thr)
NM_000287.4(PEX6):c.2316G>T (p.Glu772Asp)
NM_000287.4(PEX6):c.231C>A (p.Ser77Arg) rs1770437263
NM_000287.4(PEX6):c.2327T>C (p.Met776Thr) rs2114239270
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.235G>A (p.Ala79Thr) rs61752141
NM_000287.4(PEX6):c.236C>T (p.Ala79Val)
NM_000287.4(PEX6):c.2392T>C (p.Cys798Arg)
NM_000287.4(PEX6):c.2399T>C (p.Ile800Thr) rs748244253
NM_000287.4(PEX6):c.2419T>C (p.Ser807Pro)
NM_000287.4(PEX6):c.2434C>T (p.Arg812Trp) rs61753228
NM_000287.4(PEX6):c.2453C>G (p.Ser818Cys)
NM_000287.4(PEX6):c.245G>C (p.Arg82Pro) rs2150240495
NM_000287.4(PEX6):c.2471+5G>T rs1213308057
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.247C>G (p.Leu83Val) rs1770435941
NM_000287.4(PEX6):c.2488C>G (p.Leu830Val) rs749533099
NM_000287.4(PEX6):c.2503G>T (p.Gly835Trp)
NM_000287.4(PEX6):c.2504G>A (p.Gly835Glu)
NM_000287.4(PEX6):c.2524G>A (p.Val842Met)
NM_000287.4(PEX6):c.254_259dup (p.Ala85_Leu86dup) rs1554128546
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.2579G>C (p.Arg860Pro) rs61753231
NM_000287.4(PEX6):c.2581C>G (p.Pro861Ala)
NM_000287.4(PEX6):c.2587A>G (p.Arg863Gly) rs1769723613
NM_000287.4(PEX6):c.2589-11T>G
NM_000287.4(PEX6):c.2601G>T (p.Leu867=) rs1769712635
NM_000287.4(PEX6):c.2627G>A (p.Arg876Gln)
NM_000287.4(PEX6):c.2635C>G (p.Gln879Glu) rs1769709206
NM_000287.4(PEX6):c.2663G>T (p.Arg888Leu) rs267608247
NM_000287.4(PEX6):c.2666+5G>A rs1332626624
NM_000287.4(PEX6):c.2668T>C (p.Phe890Leu) rs2114236546
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.2705T>C (p.Leu902Pro)
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.275_280dup (p.Val92_Arg93dup) rs61752142
NM_000287.4(PEX6):c.2764_2765del (p.Met922fs) rs1554126781
NM_000287.4(PEX6):c.2768C>T (p.Thr923Ile)
NM_000287.4(PEX6):c.2773_2774delinsCT (p.Ala925Leu) rs2114236221
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.2806+6C>T
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.2830C>A (p.Leu944Met) rs2063704023
NM_000287.4(PEX6):c.2842A>G (p.Met948Val)
NM_000287.4(PEX6):c.2845G>A (p.Glu949Lys)
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.2861C>T (p.Ala954Val)
NM_000287.4(PEX6):c.2866G>T (p.Ala956Ser) rs774145857
NM_000287.4(PEX6):c.2873T>G (p.Leu958Arg) rs2114235199
NM_000287.4(PEX6):c.2882C>T (p.Ser961Leu) rs886043724
NM_000287.4(PEX6):c.2893C>G (p.Gln965Glu)
NM_000287.4(PEX6):c.2905C>T (p.Arg969Trp)
NM_000287.4(PEX6):c.2906G>T (p.Arg969Leu)
NM_000287.4(PEX6):c.2907G>C (p.Arg969=) rs145243129
NM_000287.4(PEX6):c.2908T>C (p.Tyr970His)
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.302C>G (p.Pro101Arg) rs774813175
NM_000287.4(PEX6):c.302C>T (p.Pro101Leu)
NM_000287.4(PEX6):c.313T>C (p.Trp105Arg)
NM_000287.4(PEX6):c.316G>A (p.Ala106Thr) rs2150240338
NM_000287.4(PEX6):c.317C>T (p.Ala106Val)
NM_000287.4(PEX6):c.32C>T (p.Pro11Leu) rs2150240912
NM_000287.4(PEX6):c.337G>A (p.Gly113Arg)
NM_000287.4(PEX6):c.346C>T (p.Leu116Phe) rs1770429515
NM_000287.4(PEX6):c.352C>T (p.Pro118Ser)
NM_000287.4(PEX6):c.35T>C (p.Phe12Ser) rs61752139
NM_000287.4(PEX6):c.373G>T (p.Val125Leu) rs1383547974
NM_000287.4(PEX6):c.37C>A (p.Pro13Thr)
NM_000287.4(PEX6):c.403G>A (p.Gly135Arg)
NM_000287.4(PEX6):c.403G>C (p.Gly135Arg)
NM_000287.4(PEX6):c.410G>C (p.Arg137Pro) rs1254025750
NM_000287.4(PEX6):c.424C>T (p.Arg142Trp)
NM_000287.4(PEX6):c.446T>A (p.Leu149Gln) rs1561830810
NM_000287.4(PEX6):c.44A>T (p.Glu15Val)
NM_000287.4(PEX6):c.469G>A (p.Val157Met) rs777547423
NM_000287.4(PEX6):c.473C>G (p.Thr158Ser)
NM_000287.4(PEX6):c.475G>C (p.Glu159Gln) rs991248029
NM_000287.4(PEX6):c.481C>T (p.Arg161Cys)
NM_000287.4(PEX6):c.485G>C (p.Gly162Ala)
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.49C>A (p.Pro17Thr) rs918969564
NM_000287.4(PEX6):c.4G>A (p.Ala2Thr) rs748585216
NM_000287.4(PEX6):c.508T>C (p.Ser170Pro) rs1233039273
NM_000287.4(PEX6):c.516CAG[1] (p.Ser174del) rs1770416024
NM_000287.4(PEX6):c.517A>G (p.Ser173Gly)
NM_000287.4(PEX6):c.524G>T (p.Arg175Leu)
NM_000287.4(PEX6):c.52C>T (p.Pro18Ser) rs1770447100
NM_000287.4(PEX6):c.532C>T (p.Pro178Ser) rs1331493124
NM_000287.4(PEX6):c.53C>T (p.Pro18Leu)
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.559G>A (p.Val187Ile) rs2150239788
NM_000287.4(PEX6):c.568A>G (p.Thr190Ala)
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.592C>G (p.Leu198Val) rs1770412382
NM_000287.4(PEX6):c.599G>A (p.Gly200Glu)
NM_000287.4(PEX6):c.600G>T (p.Gly200=)
NM_000287.4(PEX6):c.614T>A (p.Leu205Gln)
NM_000287.4(PEX6):c.614T>C (p.Leu205Pro) rs1379179938
NM_000287.4(PEX6):c.643C>G (p.Leu215Val) rs865933425
NM_000287.4(PEX6):c.654C>G (p.Phe218Leu) rs886037779
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>T (p.Gly220=)
NM_000287.4(PEX6):c.667G>A (p.Val223Met)
NM_000287.4(PEX6):c.673G>A (p.Val225Met) rs1770406575
NM_000287.4(PEX6):c.677C>A (p.Ala226Asp) rs2150239605
NM_000287.4(PEX6):c.67C>G (p.Leu23Val)
NM_000287.4(PEX6):c.681G>A (p.Gln227=) rs1770406319
NM_000287.4(PEX6):c.683C>G (p.Ala228Gly)
NM_000287.4(PEX6):c.695C>T (p.Ser232Leu)
NM_000287.4(PEX6):c.697A>C (p.Asn233His)
NM_000287.4(PEX6):c.697A>G (p.Asn233Asp) rs374452739
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.709C>T (p.Pro237Ser)
NM_000287.4(PEX6):c.718G>A (p.Ala240Thr) rs886061412
NM_000287.4(PEX6):c.724G>T (p.Val242Leu) rs368915893
NM_000287.4(PEX6):c.737A>T (p.Glu246Val) rs1770401105
NM_000287.4(PEX6):c.749A>G (p.Asp250Gly)
NM_000287.4(PEX6):c.751C>G (p.Leu251Val) rs769332435
NM_000287.4(PEX6):c.751C>T (p.Leu251Phe)
NM_000287.4(PEX6):c.754T>A (p.Ser252Thr)
NM_000287.4(PEX6):c.76G>C (p.Gly26Arg) rs1268867658
NM_000287.4(PEX6):c.770C>A (p.Pro257His)
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.78_79delinsAA (p.Gly27Ser)
NM_000287.4(PEX6):c.80G>C (p.Gly27Ala) rs983060034
NM_000287.4(PEX6):c.812C>T (p.Ala271Val)
NM_000287.4(PEX6):c.817G>C (p.Val273Leu) rs1770393206
NM_000287.4(PEX6):c.824C>G (p.Ala275Gly)
NM_000287.4(PEX6):c.829T>A (p.Leu277Met) rs1198487899
NM_000287.4(PEX6):c.839A>G (p.Asn280Ser)
NM_000287.4(PEX6):c.83C>G (p.Pro28Arg)
NM_000287.4(PEX6):c.853C>A (p.Pro285Thr) rs61753220
NM_000287.4(PEX6):c.856C>G (p.Leu286Val) rs2150239282
NM_000287.4(PEX6):c.866G>A (p.Gly289Glu)
NM_000287.4(PEX6):c.882+4G>A rs756846884
NM_000287.4(PEX6):c.882+5G>A rs1770388962
NM_000287.4(PEX6):c.896G>A (p.Gly299Asp) rs548459114
NM_000287.4(PEX6):c.899C>T (p.Ser300Phe)
NM_000287.4(PEX6):c.915C>G (p.Asp305Glu)
NM_000287.4(PEX6):c.937C>T (p.Pro313Ser)
NM_000287.4(PEX6):c.941G>T (p.Gly314Val) rs746415021
NM_000287.4(PEX6):c.953C>G (p.Ala318Gly) rs200600289
NM_000287.4(PEX6):c.967A>G (p.Ile323Val)
NM_000287.4(PEX6):c.988C>T (p.His330Tyr) rs1561827871
NM_000287.4(PEX6):c.994A>G (p.Ser332Gly)
NM_000287.4(PEX6):c.998C>G (p.Thr333Ser)
NM_000288.3(PEX7):c.-88T>C rs886061115
NM_000288.4(PEX7):c.*124A>G rs112796869
NM_000288.4(PEX7):c.*305C>A rs567568009
NM_000288.4(PEX7):c.*305C>T rs567568009
NM_000288.4(PEX7):c.*305_*310del rs886061123
NM_000288.4(PEX7):c.*367T>C rs886061124
NM_000288.4(PEX7):c.-18C>T rs991168664
NM_000288.4(PEX7):c.-35G>A rs886061116
NM_000288.4(PEX7):c.-3G>A rs886061117
NM_000288.4(PEX7):c.-46_-38dup rs1554328233
NM_000288.4(PEX7):c.-69C>A rs528948146
NM_000288.4(PEX7):c.100T>G (p.Cys34Gly) rs1774101933
NM_000288.4(PEX7):c.107C>T (p.Thr36Ile)
NM_000288.4(PEX7):c.113A>G (p.Gln38Arg)
NM_000288.4(PEX7):c.116A>G (p.His39Arg) rs61753237
NM_000288.4(PEX7):c.117C>G (p.His39Gln)
NM_000288.4(PEX7):c.121G>A (p.Gly41Ser)
NM_000288.4(PEX7):c.121G>C (p.Gly41Arg) rs1210968366
NM_000288.4(PEX7):c.121G>T (p.Gly41Cys)
NM_000288.4(PEX7):c.122G>A (p.Gly41Asp) rs61753239
NM_000288.4(PEX7):c.122G>T (p.Gly41Val) rs61753239
NM_000288.4(PEX7):c.130+11G>T rs886061119
NM_000288.4(PEX7):c.130+13C>A rs886061120
NM_000288.4(PEX7):c.130+3G>A
NM_000288.4(PEX7):c.130+5G>A
NM_000288.4(PEX7):c.134G>A (p.Cys45Tyr) rs2115129058
NM_000288.4(PEX7):c.136_137delinsCT (p.Gly46Leu) rs2115129066
NM_000288.4(PEX7):c.184A>G (p.Arg62Gly)
NM_000288.4(PEX7):c.195C>G (p.Asp65Glu) rs2115131716
NM_000288.4(PEX7):c.20G>A (p.Gly7Glu)
NM_000288.4(PEX7):c.212T>C (p.Phe71Ser) rs902252309
NM_000288.4(PEX7):c.225G>C (p.Trp75Cys) rs1554328961
NM_000288.4(PEX7):c.22G>C (p.Ala8Pro)
NM_000288.4(PEX7):c.238G>A (p.Glu80Lys)
NM_000288.4(PEX7):c.23C>A (p.Ala8Glu) rs1306941707
NM_000288.4(PEX7):c.257G>T (p.Cys86Phe)
NM_000288.4(PEX7):c.26C>A (p.Ala9Glu) rs1774097710
NM_000288.4(PEX7):c.26C>T (p.Ala9Val)
NM_000288.4(PEX7):c.272C>T (p.Ser91Leu)
NM_000288.4(PEX7):c.275T>C (p.Leu92Pro)
NM_000288.4(PEX7):c.278A>G (p.Gln93Arg)
NM_000288.4(PEX7):c.286G>A (p.Asp96Asn) rs1412257014
NM_000288.4(PEX7):c.313C>A (p.Gln105Lys)
NM_000288.4(PEX7):c.313C>G (p.Gln105Glu)
NM_000288.4(PEX7):c.316G>C (p.Val106Leu) rs886061121
NM_000288.4(PEX7):c.319T>A (p.Tyr107Asn)
NM_000288.4(PEX7):c.320A>G (p.Tyr107Cys)
NM_000288.4(PEX7):c.322A>G (p.Lys108Glu) rs760182861
NM_000288.4(PEX7):c.330C>G (p.His110Gln) rs199648976
NM_000288.4(PEX7):c.330C>T (p.His110=) rs199648976
NM_000288.4(PEX7):c.331G>A (p.Ala111Thr) rs368225510
NM_000288.4(PEX7):c.335A>G (p.Gln112Arg)
NM_000288.4(PEX7):c.346A>G (p.Ser116Gly)
NM_000288.4(PEX7):c.346_348del (p.Ser116del) rs1774581899
NM_000288.4(PEX7):c.35_43dup (p.Thr14_Pro15insLeuArgThr)
NM_000288.4(PEX7):c.37_45dup (p.Arg13_Pro15dup) rs1554328282
NM_000288.4(PEX7):c.382G>A (p.Val128Met)
NM_000288.4(PEX7):c.382G>C (p.Val128Leu)
NM_000288.4(PEX7):c.385G>A (p.Val129Met) rs746310218
NM_000288.4(PEX7):c.38G>A (p.Arg13Gln) rs1220044805
NM_000288.4(PEX7):c.419G>T (p.Trp140Leu)
NM_000288.4(PEX7):c.41C>T (p.Thr14Met)
NM_000288.4(PEX7):c.423T>A (p.Asp141Glu)
NM_000288.4(PEX7):c.449C>G (p.Thr150Ser)
NM_000288.4(PEX7):c.449C>T (p.Thr150Ile) rs957954726
NM_000288.4(PEX7):c.457G>A (p.Gly153Ser)
NM_000288.4(PEX7):c.46G>C (p.Gly16Arg) rs1774098770
NM_000288.4(PEX7):c.484A>G (p.Ile162Val)
NM_000288.4(PEX7):c.489G>T (p.Trp163Cys)
NM_000288.4(PEX7):c.490T>C (p.Ser164Pro) rs62653607
NM_000288.4(PEX7):c.494C>A (p.Pro165His)
NM_000288.4(PEX7):c.508T>C (p.Cys170Arg)
NM_000288.4(PEX7):c.508T>G (p.Cys170Gly)
NM_000288.4(PEX7):c.514G>C (p.Ala172Pro) rs1562734989
NM_000288.4(PEX7):c.530A>G (p.Asp177Gly)
NM_000288.4(PEX7):c.532C>A (p.Gln178Lys)
NM_000288.4(PEX7):c.533A>G (p.Gln178Arg)
NM_000288.4(PEX7):c.539T>C (p.Leu180Pro)
NM_000288.4(PEX7):c.53A>G (p.His18Arg) rs2115122498
NM_000288.4(PEX7):c.542G>T (p.Arg181Ile)
NM_000288.4(PEX7):c.568G>A (p.Val190Ile)
NM_000288.4(PEX7):c.587C>T (p.Ala196Val) rs2115216804
NM_000288.4(PEX7):c.618G>T (p.Trp206Cys)
NM_000288.4(PEX7):c.620G>C (p.Cys207Ser)
NM_000288.4(PEX7):c.633+2TA[3]
NM_000288.4(PEX7):c.633+3A>G
NM_000288.4(PEX7):c.641T>C (p.Leu214Pro) rs1554333880
NM_000288.4(PEX7):c.67G>C (p.Glu23Gln)
NM_000288.4(PEX7):c.693A>G (p.Val231=) rs1582759944
NM_000288.4(PEX7):c.704T>C (p.Val235Ala)
NM_000288.4(PEX7):c.716T>C (p.Leu239Pro) rs754346713
NM_000288.4(PEX7):c.72C>A (p.Phe24Leu)
NM_000288.4(PEX7):c.730G>T (p.Ala244Ser) rs375091907
NM_000288.4(PEX7):c.733A>G (p.Ile245Val) rs750815894
NM_000288.4(PEX7):c.733A>T (p.Ile245Phe) rs750815894
NM_000288.4(PEX7):c.737G>T (p.Arg246Met) rs780186421
NM_000288.4(PEX7):c.747+5G>A rs1775145774
NM_000288.4(PEX7):c.74C>T (p.Ser25Phe) rs61753236
NM_000288.4(PEX7):c.760C>T (p.His254Tyr) rs1775195476
NM_000288.4(PEX7):c.76C>G (p.Pro26Ala)
NM_000288.4(PEX7):c.778T>A (p.Ser260Thr)
NM_000288.4(PEX7):c.77C>G (p.Pro26Arg)
NM_000288.4(PEX7):c.797C>T (p.Thr266Ile) rs1452611618
NM_000288.4(PEX7):c.800T>C (p.Val267Ala)
NM_000288.4(PEX7):c.803+5A>C
NM_000288.4(PEX7):c.803G>C (p.Arg268Thr)
NM_000288.4(PEX7):c.830C>G (p.Ser277Cys)
NM_000288.4(PEX7):c.832C>T (p.Leu278Phe) rs1775685342
NM_000288.4(PEX7):c.848A>C (p.Glu283Ala) rs2115273002
NM_000288.4(PEX7):c.85C>G (p.Pro29Ala)
NM_000288.4(PEX7):c.870_871insCAA (p.Cys290_Gly291insGln) rs267608257
NM_000288.4(PEX7):c.879C>A (p.Asp293Glu)
NM_000288.4(PEX7):c.883A>G (p.Ser295Gly)
NM_000288.4(PEX7):c.901C>T (p.Gln301Ter) rs374763007
NM_000288.4(PEX7):c.903+5C>T
NM_000288.4(PEX7):c.904-1G>A rs1413838301
NM_000288.4(PEX7):c.911A>T (p.Asp304Val)
NM_000288.4(PEX7):c.917C>T (p.Ser306Phe) rs267608258
NM_000288.4(PEX7):c.917del (p.Ser306fs) rs1554337182
NM_000288.4(PEX7):c.91C>T (p.Arg31Cys)
NM_000288.4(PEX7):c.931del (p.Thr310_Ile311insTer) rs1554337188
NM_000288.4(PEX7):c.934A>G (p.Lys312Glu) rs2115300138
NM_000288.4(PEX7):c.964C>A (p.Pro322Thr)
NM_000288.4(PEX7):c.968C>A (p.Ala323Asp) rs1184131500
NM_000288.4(PEX7):c.970T>C (p.Ter324Arg) rs988988279
NM_000288.4(PEX7):c.970T>G (p.Ter324Gly) rs988988279
NM_000288.4(PEX7):c.971G>C (p.Ter324Ser) rs374574552
NM_000318.2(PEX2):c.-273G>A rs367767138
NM_000318.2(PEX2):c.-278C>G rs886063142
NM_000318.2(PEX2):c.-335C>T rs886063143
NM_000318.2(PEX2):c.-369C>T rs886063145
NM_000318.3(PEX2):c.*1085T>A rs886063132
NM_000318.3(PEX2):c.*1319A>T rs912151931
NM_000318.3(PEX2):c.*1466ATT[1] rs552746754
NM_000318.3(PEX2):c.*1606T>G rs1276104967
NM_000318.3(PEX2):c.*1811C>T rs886063128
NM_000318.3(PEX2):c.*2007A>T rs558850392
NM_000318.3(PEX2):c.*2404A>G rs1806798109
NM_000318.3(PEX2):c.*2430T>C rs886063126
NM_000318.3(PEX2):c.*2466A>G rs886063125
NM_000318.3(PEX2):c.*2700G>T rs1806788065
NM_000318.3(PEX2):c.*277_*279del rs886063138
NM_000318.3(PEX2):c.*37C>T rs886063140
NM_000318.3(PEX2):c.*419T>G rs1806878211
NM_000318.3(PEX2):c.*645G>T rs1806867628
NM_000318.3(PEX2):c.*780T>A rs1806859817
NM_000318.3(PEX2):c.*819A>C rs886063135
NM_000318.3(PEX2):c.*913C>T rs886063134
NM_000318.3(PEX2):c.-13del rs146402705
NM_000318.3(PEX2):c.101G>C (p.Trp34Ser)
NM_000318.3(PEX2):c.109T>A (p.Phe37Ile)
NM_000318.3(PEX2):c.116A>G (p.Gln39Arg) rs1427212561
NM_000318.3(PEX2):c.122T>A (p.Phe41Tyr)
NM_000318.3(PEX2):c.123T>A (p.Phe41Leu) rs2132044807
NM_000318.3(PEX2):c.140G>A (p.Gly47Glu)
NM_000318.3(PEX2):c.142C>G (p.Leu48Val)
NM_000318.3(PEX2):c.143T>C (p.Leu48Pro)
NM_000318.3(PEX2):c.148G>T (p.Ala50Ser)
NM_000318.3(PEX2):c.152G>T (p.Arg51Leu) rs549242503
NM_000318.3(PEX2):c.159_160delinsAT (p.Pro54Ser)
NM_000318.3(PEX2):c.166G>A (p.Val56Met) rs2132044712
NM_000318.3(PEX2):c.16G>C (p.Glu6Gln)
NM_000318.3(PEX2):c.190T>A (p.Leu64Met)
NM_000318.3(PEX2):c.19A>C (p.Asn7His) rs576066189
NM_000318.3(PEX2):c.221C>G (p.Ala74Gly) rs1305420150
NM_000318.3(PEX2):c.221C>T (p.Ala74Val)
NM_000318.3(PEX2):c.22G>T (p.Ala8Ser) rs2132045041
NM_000318.3(PEX2):c.238G>A (p.Val80Ile)
NM_000318.3(PEX2):c.247A>G (p.Ile83Val)
NM_000318.3(PEX2):c.248T>C (p.Ile83Thr) rs1806923661
NM_000318.3(PEX2):c.263A>G (p.Asp88Gly)
NM_000318.3(PEX2):c.265T>A (p.Phe89Ile) rs1463397236
NM_000318.3(PEX2):c.268T>A (p.Ser90Thr)
NM_000318.3(PEX2):c.275A>C (p.Asn92Thr) rs2132044452
NM_000318.3(PEX2):c.278T>C (p.Leu93Pro)
NM_000318.3(PEX2):c.280A>G (p.Arg94Gly)
NM_000318.3(PEX2):c.298A>G (p.Lys100Glu)
NM_000318.3(PEX2):c.320C>A (p.Ala107Asp)
NM_000318.3(PEX2):c.320C>T (p.Ala107Val) rs2132044318
NM_000318.3(PEX2):c.32C>A (p.Ala11Glu)
NM_000318.3(PEX2):c.344G>C (p.Trp115Ser)
NM_000318.3(PEX2):c.349GAA[1] (p.Glu118del) rs1554584507
NM_000318.3(PEX2):c.356G>A (p.Arg119Gln)
NM_000318.3(PEX2):c.361T>C (p.Tyr121His) rs1201697415
NM_000318.3(PEX2):c.362A>G (p.Tyr121Cys)
NM_000318.3(PEX2):c.365A>T (p.Asp122Val)
NM_000318.3(PEX2):c.368T>C (p.Leu123Ser) rs2132044164
NM_000318.3(PEX2):c.373C>G (p.Arg125Gly)
NM_000318.3(PEX2):c.377A>G (p.Asn126Ser) rs2132044121
NM_000318.3(PEX2):c.410A>G (p.Gln137Arg)
NM_000318.3(PEX2):c.412T>A (p.Cys138Ser) rs2132044038
NM_000318.3(PEX2):c.415G>T (p.Val139Leu) rs1806914302
NM_000318.3(PEX2):c.429T>G (p.Ile143Met)
NM_000318.3(PEX2):c.437T>C (p.Leu146Ser)
NM_000318.3(PEX2):c.44T>C (p.Leu15Pro)
NM_000318.3(PEX2):c.452T>C (p.Leu151Pro) rs2132043971
NM_000318.3(PEX2):c.483A>G (p.Gly161=) rs2132043885
NM_000318.3(PEX2):c.488T>G (p.Phe163Cys)
NM_000318.3(PEX2):c.494C>A (p.Thr165Asn)
NM_000318.3(PEX2):c.497T>G (p.Leu166Trp)
NM_000318.3(PEX2):c.500C>G (p.Thr167Arg)
NM_000318.3(PEX2):c.500C>T (p.Thr167Ile)
NM_000318.3(PEX2):c.505C>G (p.Arg169Gly) rs752394595
NM_000318.3(PEX2):c.505C>T (p.Arg169Cys)
NM_000318.3(PEX2):c.506G>A (p.Arg169His)
NM_000318.3(PEX2):c.506G>T (p.Arg169Leu) rs564144139
NM_000318.3(PEX2):c.526G>A (p.Val176Ile)
NM_000318.3(PEX2):c.54C>A (p.Ser18Arg) rs545785018
NM_000318.3(PEX2):c.550_551delinsCT (p.Cys184Leu) rs2132043720
NM_000318.3(PEX2):c.550_551inv (p.Cys184His)
NM_000318.3(PEX2):c.571A>C (p.Met191Leu) rs747946744
NM_000318.3(PEX2):c.573G>C (p.Met191Ile) rs2132043654
NM_000318.3(PEX2):c.575A>G (p.Asn192Ser)
NM_000318.3(PEX2):c.584T>C (p.Leu195Pro)
NM_000318.3(PEX2):c.5C>A (p.Ala2Asp)
NM_000318.3(PEX2):c.601G>A (p.Ala201Thr)
NM_000318.3(PEX2):c.604G>C (p.Glu202Gln)
NM_000318.3(PEX2):c.606A>T (p.Glu202Asp) rs376974246
NM_000318.3(PEX2):c.607T>C (p.Phe203Leu) rs1806904326
NM_000318.3(PEX2):c.608T>G (p.Phe203Cys) rs2132043579
NM_000318.3(PEX2):c.614T>G (p.Ile205Ser)
NM_000318.3(PEX2):c.619C>G (p.Leu207Val) rs143986865
NM_000318.3(PEX2):c.628C>T (p.Leu210Phe) rs1420998615
NM_000318.3(PEX2):c.62A>G (p.Asp21Gly) rs1484917700
NM_000318.3(PEX2):c.632T>C (p.Ile211Thr)
NM_000318.3(PEX2):c.641A>G (p.Gln214Arg)
NM_000318.3(PEX2):c.657G>C (p.Lys219Asn) rs1806902121
NM_000318.3(PEX2):c.671G>A (p.Cys224Tyr)
NM_000318.3(PEX2):c.673A>G (p.Ile225Val)
NM_000318.3(PEX2):c.685G>C (p.Gly229Arg)
NM_000318.3(PEX2):c.686G>A (p.Gly229Asp) rs2132043367
NM_000318.3(PEX2):c.688G>A (p.Ala230Thr) rs1475641448
NM_000318.3(PEX2):c.694A>G (p.Asn232Asp) rs1806899956
NM_000318.3(PEX2):c.701_706del (p.Asp234_Thr236delinsAla) rs1554584423
NM_000318.3(PEX2):c.715A>T (p.Thr239Ser)
NM_000318.3(PEX2):c.718A>C (p.Ser240Arg)
NM_000318.3(PEX2):c.733G>C (p.Ala245Pro) rs112108739
NM_000318.3(PEX2):c.736C>G (p.Leu246Val) rs757764014
NM_000318.3(PEX2):c.737T>C (p.Leu246Pro)
NM_000318.3(PEX2):c.752C>G (p.Pro251Arg)
NM_000318.3(PEX2):c.752C>T (p.Pro251Leu)
NM_000318.3(PEX2):c.757A>G (p.Met253Val)
NM_000318.3(PEX2):c.766A>G (p.Thr256Ala) rs1220452895
NM_000318.3(PEX2):c.76A>C (p.Asn26His) rs977528373
NM_000318.3(PEX2):c.773G>A (p.Gly258Glu) rs1428046580
NM_000318.3(PEX2):c.784A>G (p.Ile262Val) rs1806895422
NM_000318.3(PEX2):c.78C>G (p.Asn26Lys)
NM_000318.3(PEX2):c.78_80del (p.Asn26del) rs1806932884
NM_000318.3(PEX2):c.793_797del (p.Tyr265fs) rs2132043053
NM_000318.3(PEX2):c.794A>G (p.Tyr265Cys) rs2132043073
NM_000318.3(PEX2):c.809G>C (p.Ser270Thr)
NM_000318.3(PEX2):c.82G>A (p.Ala28Thr)
NM_000318.3(PEX2):c.830A>G (p.Tyr277Cys)
NM_000318.3(PEX2):c.854C>G (p.Thr285Arg)
NM_000318.3(PEX2):c.857_859del (p.Glu286del) rs1460738027
NM_000318.3(PEX2):c.866G>A (p.Ser289Asn)
NM_000318.3(PEX2):c.875C>T (p.Pro292Leu) rs2132042879
NM_000318.3(PEX2):c.881A>C (p.Lys294Thr) rs2132042875
NM_000318.3(PEX2):c.884C>G (p.Ser295Ter) rs1554584377
NM_000318.3(PEX2):c.884C>T (p.Ser295Leu)
NM_000318.3(PEX2):c.891C>G (p.Ile297Met)
NM_000318.3(PEX2):c.897G>A (p.Met299Ile) rs1806890153
NM_000318.3(PEX2):c.911C>T (p.Ala304Val)
NM_000318.3(PEX2):c.915T>A (p.Leu305=) rs1806889622
NM_000318.3(PEX2):c.92A>C (p.Gln31Pro) rs1806931527
NM_000414.4(HSD17B4):c.-75C>A rs26180
NM_000414.4(HSD17B4):c.1000C>T (p.Pro334Ser) rs143750360
NM_000414.4(HSD17B4):c.1016A>G (p.Tyr339Cys) rs2126780758
NM_000414.4(HSD17B4):c.1037T>C (p.Met346Thr)
NM_000414.4(HSD17B4):c.1042G>A (p.Ala348Thr)
NM_000414.4(HSD17B4):c.1067A>G (p.Lys356Arg)
NM_000414.4(HSD17B4):c.1070A>T (p.Asp357Val)
NM_000414.4(HSD17B4):c.1078G>T (p.Asp360Tyr) rs2126781071
NM_000414.4(HSD17B4):c.1096G>A (p.Glu366Lys)
NM_000414.4(HSD17B4):c.1109A>T (p.Asp370Val)
NM_000414.4(HSD17B4):c.1136T>A (p.Val379Asp) rs1750957000
NM_000414.4(HSD17B4):c.1177G>A (p.Glu393Lys)
NM_000414.4(HSD17B4):c.1180A>G (p.Ile394Val)
NM_000414.4(HSD17B4):c.1181T>C (p.Ile394Thr)
NM_000414.4(HSD17B4):c.1189C>A (p.Leu397Ile)
NM_000414.4(HSD17B4):c.118G>T (p.Asp40Tyr) rs34959311
NM_000414.4(HSD17B4):c.1195A>G (p.Ile399Val)
NM_000414.4(HSD17B4):c.1209+5G>A rs749753383
NM_000414.4(HSD17B4):c.1209+5G>T
NM_000414.4(HSD17B4):c.1210-7A>G rs1751214001
NM_000414.4(HSD17B4):c.1219G>A (p.Gly407Arg)
NM_000414.4(HSD17B4):c.1240T>C (p.Tyr414His)
NM_000414.4(HSD17B4):c.1271A>G (p.Lys424Arg) rs2126806471
NM_000414.4(HSD17B4):c.1289C>A (p.Ala430Asp) rs1282621174
NM_000414.4(HSD17B4):c.131A>T (p.Asp44Val) rs200063597
NM_000414.4(HSD17B4):c.1337A>T (p.Tyr446Phe) rs768553274
NM_000414.4(HSD17B4):c.1352A>G (p.Lys451Arg)
NM_000414.4(HSD17B4):c.1354G>C (p.Glu452Gln)
NM_000414.4(HSD17B4):c.1361T>A (p.Ile454Lys)
NM_000414.4(HSD17B4):c.1366C>G (p.His456Asp)
NM_000414.4(HSD17B4):c.1370A>G (p.Asn457Ser)
NM_000414.4(HSD17B4):c.1388T>C (p.Leu463Pro) rs2126814342
NM_000414.4(HSD17B4):c.1414_1416del (p.Lys472del) rs1751942272
NM_000414.4(HSD17B4):c.1424C>T (p.Ser475Leu)
NM_000414.4(HSD17B4):c.1450A>G (p.Ile484Val) rs775297352
NM_000414.4(HSD17B4):c.1484A>T (p.Asp495Val) rs755720085
NM_000414.4(HSD17B4):c.1490C>A (p.Thr497Asn)
NM_000414.4(HSD17B4):c.1493C>G (p.Ser498Cys)
NM_000414.4(HSD17B4):c.1496T>G (p.Leu499Arg)
NM_000414.4(HSD17B4):c.1517G>A (p.Arg506His) rs1554068136
NM_000414.4(HSD17B4):c.1523G>T (p.Ser508Ile)
NM_000414.4(HSD17B4):c.1537C>A (p.Pro513Thr) rs764300456
NM_000414.4(HSD17B4):c.1538C>T (p.Pro513Leu) rs587777444
NM_000414.4(HSD17B4):c.1574G>T (p.Gly525Val) rs1554068261
NM_000414.4(HSD17B4):c.1586C>T (p.Pro529Leu) rs1554068269
NM_000414.4(HSD17B4):c.1595A>G (p.His532Arg) rs1554068272
NM_000414.4(HSD17B4):c.1619C>A (p.Ser540Tyr)
NM_000414.4(HSD17B4):c.161C>A (p.Ala54Asp) rs141517981
NM_000414.4(HSD17B4):c.161C>G (p.Ala54Gly) rs141517981
NM_000414.4(HSD17B4):c.161C>T (p.Ala54Val)
NM_000414.4(HSD17B4):c.1655A>T (p.Asp552Val) rs1753560298
NM_000414.4(HSD17B4):c.1680G>C (p.Lys560Asn)
NM_000414.4(HSD17B4):c.1681G>C (p.Ala561Pro)
NM_000414.4(HSD17B4):c.1681G>T (p.Ala561Ser)
NM_000414.4(HSD17B4):c.1683T>C (p.Ala561=) rs1239645507
NM_000414.4(HSD17B4):c.1690_1691delinsCT (p.Ala564Leu)
NM_000414.4(HSD17B4):c.1714A>G (p.Thr572Ala)
NM_000414.4(HSD17B4):c.1724C>G (p.Thr575Ser)
NM_000414.4(HSD17B4):c.1729A>G (p.Met577Val)
NM_000414.4(HSD17B4):c.1767+5G>A rs1753684353
NM_000414.4(HSD17B4):c.178GAA[1] (p.Glu61del) rs1554062119
NM_000414.4(HSD17B4):c.1804T>C (p.Tyr602His)
NM_000414.4(HSD17B4):c.1805A>G (p.Tyr602Cys)
NM_000414.4(HSD17B4):c.1819C>T (p.Pro607Ser)
NM_000414.4(HSD17B4):c.1885G>C (p.Glu629Gln)
NM_000414.4(HSD17B4):c.192G>C (p.Arg64Ser) rs1294462098
NM_000414.4(HSD17B4):c.1935A>G (p.Lys645=)
NM_000414.4(HSD17B4):c.1945G>A (p.Val649Ile)
NM_000414.4(HSD17B4):c.1958A>G (p.His653Arg)
NM_000414.4(HSD17B4):c.2002C>G (p.Leu668Val)
NM_000414.4(HSD17B4):c.200G>A (p.Gly67Glu)
NM_000414.4(HSD17B4):c.2011G>C (p.Gly671Arg)
NM_000414.4(HSD17B4):c.2032G>A (p.Gly678Ser)
NM_000414.4(HSD17B4):c.2045G>A (p.Gly682Asp)
NM_000414.4(HSD17B4):c.2065A>G (p.Ile689Val)
NM_000414.4(HSD17B4):c.2075A>G (p.Asp692Gly) rs2126915869
NM_000414.4(HSD17B4):c.2106G>T (p.Lys702Asn)
NM_000414.4(HSD17B4):c.2112C>A (p.Asp704Glu)
NM_000414.4(HSD17B4):c.2122-9T>C rs573283226
NM_000414.4(HSD17B4):c.2127C>G (p.Phe709Leu) rs541911825
NM_000414.4(HSD17B4):c.2130dup (p.Ser711Ter) rs1554070146
NM_000414.4(HSD17B4):c.2135G>A (p.Gly712Asp)
NM_000414.4(HSD17B4):c.2163G>A (p.Met721Ile) rs2126934715
NM_000414.4(HSD17B4):c.216C>A (p.Asn72Lys) rs1554062124
NM_000414.4(HSD17B4):c.2198A>G (p.Tyr733Cys)
NM_000414.4(HSD17B4):c.220G>A (p.Asp74Asn)
NM_000414.4(HSD17B4):c.245T>C (p.Val82Ala)
NM_000414.4(HSD17B4):c.251A>G (p.Lys84Arg)
NM_000414.4(HSD17B4):c.272G>A (p.Gly91Glu)
NM_000414.4(HSD17B4):c.275G>T (p.Arg92Ile) rs754108630
NM_000414.4(HSD17B4):c.280+4A>G rs759020197
NM_000414.4(HSD17B4):c.280+4A>T
NM_000414.4(HSD17B4):c.280+5T>C rs2126684592
NM_000414.4(HSD17B4):c.298G>A (p.Ala100Thr)
NM_000414.4(HSD17B4):c.298G>T (p.Ala100Ser) rs1554062352
NM_000414.4(HSD17B4):c.316C>T (p.Arg106Cys)
NM_000414.4(HSD17B4):c.338A>C (p.Asp113Ala)
NM_000414.4(HSD17B4):c.361A>G (p.Arg121Gly) rs1455328824
NM_000414.4(HSD17B4):c.373C>T (p.Arg125Trp)
NM_000414.4(HSD17B4):c.388G>A (p.Val130Met) rs1748692405
NM_000414.4(HSD17B4):c.401C>T (p.Ala134Val)
NM_000414.4(HSD17B4):c.434+5A>G
NM_000414.4(HSD17B4):c.442A>G (p.Met148Val) rs765174171
NM_000414.4(HSD17B4):c.44C>T (p.Thr15Ile)
NM_000414.4(HSD17B4):c.491A>G (p.Tyr164Cys)
NM_000414.4(HSD17B4):c.51G>T (p.Ala17=) rs756529538
NM_000414.4(HSD17B4):c.523G>A (p.Ala175Thr) rs1554062814
NM_000414.4(HSD17B4):c.529T>C (p.Ser177Pro)
NM_000414.4(HSD17B4):c.53G>T (p.Gly18Val)
NM_000414.4(HSD17B4):c.550A>G (p.Lys184Glu)
NM_000414.4(HSD17B4):c.58+189del rs1554059560
NM_000414.4(HSD17B4):c.59-3T>G
NM_000414.4(HSD17B4):c.595C>T (p.Arg199Trp)
NM_000414.4(HSD17B4):c.596G>A (p.Arg199Gln)
NM_000414.4(HSD17B4):c.643C>A (p.Pro215Thr) rs552078818
NM_000414.4(HSD17B4):c.643C>T (p.Pro215Ser) rs552078818
NM_000414.4(HSD17B4):c.658C>T (p.Pro220Ser)
NM_000414.4(HSD17B4):c.661C>T (p.Leu221Phe) rs1554064092
NM_000414.4(HSD17B4):c.666C>T (p.Val222=) rs150677536
NM_000414.4(HSD17B4):c.673C>T (p.Leu225Phe) rs1749881286
NM_000414.4(HSD17B4):c.67C>G (p.Arg23Gly)
NM_000414.4(HSD17B4):c.68G>A (p.Arg23Gln) rs762613990
NM_000414.4(HSD17B4):c.714G>C (p.Glu238Asp)
NM_000414.4(HSD17B4):c.718G>A (p.Gly240Arg) rs886059821
NM_000414.4(HSD17B4):c.739+2dup rs1554064396
NM_000414.4(HSD17B4):c.740-2A>T
NM_000414.4(HSD17B4):c.742C>G (p.Arg248Gly) rs969485098
NM_000414.4(HSD17B4):c.755C>T (p.Thr252Ile)
NM_000414.4(HSD17B4):c.761G>A (p.Gly254Glu)
NM_000414.4(HSD17B4):c.784C>G (p.His262Asp)
NM_000414.4(HSD17B4):c.793A>G (p.Thr265Ala)
NM_000414.4(HSD17B4):c.796C>T (p.Pro266Ser) rs146555135
NM_000414.4(HSD17B4):c.814A>G (p.Asn272Asp) rs2126758919
NM_000414.4(HSD17B4):c.842A>G (p.Asn281Ser) rs1750354718
NM_000414.4(HSD17B4):c.844G>C (p.Ala282Pro) rs1750354958
NM_000414.4(HSD17B4):c.847A>T (p.Ser283Cys)
NM_000414.4(HSD17B4):c.854C>T (p.Pro285Leu)
NM_000414.4(HSD17B4):c.860G>A (p.Ser287Asn)
NM_000414.4(HSD17B4):c.869-4T>A rs1257077894
NM_000414.4(HSD17B4):c.91G>A (p.Glu31Lys)
NM_000414.4(HSD17B4):c.922G>A (p.Val308Ile)
NM_000414.4(HSD17B4):c.925T>C (p.Ser309Pro)
NM_000414.4(HSD17B4):c.934C>T (p.His312Tyr)
NM_000414.4(HSD17B4):c.951G>A (p.Thr317=) rs779198396
NM_000466.2(PEX1):c.2010_2018del (p.Ala672_Pro674del) rs1357462196
NM_000466.3(PEX1):c.*241T>C rs886062499
NM_000466.3(PEX1):c.-74A>G rs886062510
NM_000466.3(PEX1):c.-82C>G rs1169565016
NM_000466.3(PEX1):c.1039A>G (p.Lys347Glu)
NM_000466.3(PEX1):c.103C>T (p.Leu35Phe)
NM_000466.3(PEX1):c.1060T>C (p.Ser354Pro)
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)
NM_000466.3(PEX1):c.1096G>T (p.Asp366Tyr)
NM_000466.3(PEX1):c.1101_1121del (p.Gln367_Asp373del) rs1554375280
NM_000466.3(PEX1):c.1104A>C (p.Lys368Asn) rs2116243334
NM_000466.3(PEX1):c.1109T>C (p.Ile370Thr) rs1562866173
NM_000466.3(PEX1):c.1111A>G (p.Arg371Gly)
NM_000466.3(PEX1):c.1135G>A (p.Glu379Lys)
NM_000466.3(PEX1):c.1138A>C (p.Lys380Gln)
NM_000466.3(PEX1):c.1141G>T (p.Ala381Ser) rs540780825
NM_000466.3(PEX1):c.1142C>T (p.Ala381Val)
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.1193T>A (p.Ile398Asn)
NM_000466.3(PEX1):c.119A>G (p.His40Arg)
NM_000466.3(PEX1):c.1214A>C (p.Glu405Ala)
NM_000466.3(PEX1):c.1229G>A (p.Gly410Glu) rs2116242366
NM_000466.3(PEX1):c.122TGC[3] (p.Leu42dup) rs1554378340
NM_000466.3(PEX1):c.1279C>A (p.His427Asn) rs2116221515
NM_000466.3(PEX1):c.1282G>A (p.Ala428Thr)
NM_000466.3(PEX1):c.129+10C>T rs886062508
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.1343A>T (p.Gln448Leu)
NM_000466.3(PEX1):c.1354A>C (p.Asn452His) rs2116220996
NM_000466.3(PEX1):c.1359+15A>G
NM_000466.3(PEX1):c.1380A>C (p.Glu460Asp) rs565049190
NM_000466.3(PEX1):c.1396T>C (p.Phe466Leu)
NM_000466.3(PEX1):c.1397T>G (p.Phe466Cys) rs1040716320
NM_000466.3(PEX1):c.1415A>G (p.Gln472Arg)
NM_000466.3(PEX1):c.1417T>C (p.Ser473Pro) rs1474508557
NM_000466.3(PEX1):c.1429A>G (p.Met477Val)
NM_000466.3(PEX1):c.1432C>T (p.Leu478Phe)
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)
NM_000466.3(PEX1):c.1484-4A>G
NM_000466.3(PEX1):c.1489A>C (p.Lys497Gln)
NM_000466.3(PEX1):c.1490A>G (p.Lys497Arg)
NM_000466.3(PEX1):c.1494A>T (p.Glu498Asp)
NM_000466.3(PEX1):c.1502_1513del (p.Leu501_Val504del)
NM_000466.3(PEX1):c.1524AAAAGA[1] (p.508EK[1]) rs1554373613
NM_000466.3(PEX1):c.1526A>C (p.Lys509Thr)
NM_000466.3(PEX1):c.1535A>T (p.Asp512Val)
NM_000466.3(PEX1):c.154A>G (p.Ser52Gly)
NM_000466.3(PEX1):c.1562A>G (p.Asn521Ser)
NM_000466.3(PEX1):c.1582A>G (p.Ile528Val) rs1792432441
NM_000466.3(PEX1):c.1587+6A>G
NM_000466.3(PEX1):c.1588-7A>G
NM_000466.3(PEX1):c.1593_1595del (p.Leu532del) rs1554373273
NM_000466.3(PEX1):c.1600C>G (p.Pro534Ala) rs1419015282
NM_000466.3(PEX1):c.1600C>T (p.Pro534Ser) rs1419015282
NM_000466.3(PEX1):c.1601C>G (p.Pro534Arg) rs983690128
NM_000466.3(PEX1):c.1603A>G (p.Met535Val)
NM_000466.3(PEX1):c.1605G>A (p.Met535Ile) rs2116195142
NM_000466.3(PEX1):c.1615G>A (p.Glu539Lys)
NM_000466.3(PEX1):c.1620C>T (p.Asn540=)
NM_000466.3(PEX1):c.1623T>G (p.Ser541Arg)
NM_000466.3(PEX1):c.1638T>A (p.Phe546Leu) rs1397315670
NM_000466.3(PEX1):c.1639A>G (p.Ile547Val)
NM_000466.3(PEX1):c.1645C>T (p.Pro549Ser) rs1053943553
NM_000466.3(PEX1):c.1646C>G (p.Pro549Arg) rs751131750
NM_000466.3(PEX1):c.1647T>A (p.Pro549=)
NM_000466.3(PEX1):c.1657C>A (p.Leu553Met)
NM_000466.3(PEX1):c.1661G>A (p.Ser554Asn)
NM_000466.3(PEX1):c.1663T>C (p.Ser555Pro) rs773827098
NM_000466.3(PEX1):c.1668G>C (p.Leu556Phe) rs1792345170
NM_000466.3(PEX1):c.1670+5G>T rs201343162
NM_000466.3(PEX1):c.1679A>G (p.Asn560Ser) rs2116181845
NM_000466.3(PEX1):c.1688G>A (p.Gly563Asp) rs2116181769
NM_000466.3(PEX1):c.1702G>C (p.Glu568Gln)
NM_000466.3(PEX1):c.1716C>A (p.His572Gln) rs1792228135
NM_000466.3(PEX1):c.1729C>A (p.Arg577Ser) rs200991412
NM_000466.3(PEX1):c.1730G>A (p.Arg577His)
NM_000466.3(PEX1):c.1741C>T (p.Arg581Trp)
NM_000466.3(PEX1):c.1742G>A (p.Arg581Gln) rs370483961
NM_000466.3(PEX1):c.1746G>C (p.Gln582His)
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.1804-12A>G rs143041528
NM_000466.3(PEX1):c.1829_1830del (p.Lys610fs) rs1562857333
NM_000466.3(PEX1):c.1832C>T (p.Ala611Val) rs2116176413
NM_000466.3(PEX1):c.1834A>G (p.Ile612Val)
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.1898G>A (p.Arg633Gln)
NM_000466.3(PEX1):c.1900+4T>C rs2116175794
NM_000466.3(PEX1):c.1901-14T>C rs1792111444
NM_000466.3(PEX1):c.1901G>A (p.Gly634Glu)
NM_000466.3(PEX1):c.1918A>T (p.Ile640Leu)
NM_000466.3(PEX1):c.1928C>A (p.Thr643Asn)
NM_000466.3(PEX1):c.1933G>C (p.Glu645Gln)
NM_000466.3(PEX1):c.1946C>T (p.Ser649Leu)
NM_000466.3(PEX1):c.1962G>A (p.Met654Ile)
NM_000466.3(PEX1):c.1970C>T (p.Ser657Phe)
NM_000466.3(PEX1):c.1975G>A (p.Val659Ile) rs193221288
NM_000466.3(PEX1):c.1975G>T (p.Val659Phe) rs193221288
NM_000466.3(PEX1):c.1978C>G (p.Leu660Val) rs2116165647
NM_000466.3(PEX1):c.1987G>A (p.Asp663Asn)
NM_000466.3(PEX1):c.199A>G (p.Ser67Gly)
NM_000466.3(PEX1):c.2012C>G (p.Pro671Arg)
NM_000466.3(PEX1):c.2014G>A (p.Ala672Thr)
NM_000466.3(PEX1):c.2015C>A (p.Ala672Asp) rs897278975
NM_000466.3(PEX1):c.2024A>G (p.Glu675Gly) rs1792100189
NM_000466.3(PEX1):c.2039_2050del (p.Pro680_Val683del) rs1554372090
NM_000466.3(PEX1):c.2044G>A (p.Ala682Thr) rs2116165019
NM_000466.3(PEX1):c.2060G>T (p.Arg687Leu)
NM_000466.3(PEX1):c.2069A>G (p.His690Arg)
NM_000466.3(PEX1):c.2071+3A>G rs1189294296
NM_000466.3(PEX1):c.2072-12_2072-9del
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.2099T>C (p.Ile700Thr) rs1792017598
NM_000466.3(PEX1):c.2114T>G (p.Leu705Trp) rs863225084
NM_000466.3(PEX1):c.2126T>G (p.Ile709Ser)
NM_000466.3(PEX1):c.2135G>T (p.Ser712Ile)
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.2165T>C (p.Leu722Pro)
NM_000466.3(PEX1):c.2178A>C (p.Gln726His)
NM_000466.3(PEX1):c.217G>A (p.Val73Met)
NM_000466.3(PEX1):c.218T>C (p.Val73Ala) rs1793077054
NM_000466.3(PEX1):c.2215C>T (p.Pro739Ser)
NM_000466.3(PEX1):c.2226G>C (p.Gln742His)
NM_000466.3(PEX1):c.2227G>A (p.Glu743Lys)
NM_000466.3(PEX1):c.2240A>G (p.Glu747Gly)
NM_000466.3(PEX1):c.2249G>A (p.Cys750Tyr)
NM_000466.3(PEX1):c.2262_2264del (p.Lys754del) rs1554371157
NM_000466.3(PEX1):c.2275T>C (p.Cys759Arg)
NM_000466.3(PEX1):c.2276G>A (p.Cys759Tyr)
NM_000466.3(PEX1):c.2284A>C (p.Asn762His)
NM_000466.3(PEX1):c.2306T>C (p.Leu769Pro) rs767182250
NM_000466.3(PEX1):c.230A>G (p.Asn77Ser)
NM_000466.3(PEX1):c.2312A>G (p.His771Arg) rs1791952164
NM_000466.3(PEX1):c.231C>A (p.Asn77Lys)
NM_000466.3(PEX1):c.2336T>C (p.Phe779Ser)
NM_000466.3(PEX1):c.233G>C (p.Arg78Thr) rs2116268284
NM_000466.3(PEX1):c.2359C>T (p.Leu787Phe)
NM_000466.3(PEX1):c.235C>G (p.Gln79Glu)
NM_000466.3(PEX1):c.2369G>A (p.Arg790Gln)
NM_000466.3(PEX1):c.2377C>T (p.His793Tyr)
NM_000466.3(PEX1):c.2384G>A (p.Arg795Gln) rs368954584
NM_000466.3(PEX1):c.2389T>A (p.Ser797Thr) rs1024476499
NM_000466.3(PEX1):c.2393G>A (p.Arg798His)
NM_000466.3(PEX1):c.2400_2402dup (p.Ile801dup) rs1554371019
NM_000466.3(PEX1):c.2416+4T>C
NM_000466.3(PEX1):c.2417-5A>G
NM_000466.3(PEX1):c.2427A>C (p.Leu809Phe)
NM_000466.3(PEX1):c.2443C>G (p.Gln815Glu)
NM_000466.3(PEX1):c.2449G>A (p.Ala817Thr) rs2116145984
NM_000466.3(PEX1):c.2458G>A (p.Gly820Arg)
NM_000466.3(PEX1):c.2468C>T (p.Pro823Leu) rs2116145764
NM_000466.3(PEX1):c.2480G>A (p.Arg827Gln)
NM_000466.3(PEX1):c.2480G>C (p.Arg827Pro) rs752937649
NM_000466.3(PEX1):c.2489A>G (p.Asn830Ser)
NM_000466.3(PEX1):c.2492T>C (p.Leu831Pro)
NM_000466.3(PEX1):c.2500C>A (p.Pro834Thr)
NM_000466.3(PEX1):c.2506G>C (p.Asp836His)
NM_000466.3(PEX1):c.2536C>T (p.His846Tyr) rs2116145200
NM_000466.3(PEX1):c.2575C>A (p.Pro859Thr)
NM_000466.3(PEX1):c.2584-10del rs5885806
NM_000466.3(PEX1):c.2584-11_2584-10del rs5885806
NM_000466.3(PEX1):c.260C>T (p.Ser87Leu)
NM_000466.3(PEX1):c.2615G>A (p.Arg872Gln)
NM_000466.3(PEX1):c.2620A>G (p.Arg874Gly)
NM_000466.3(PEX1):c.2627G>T (p.Gly876Val) rs545382069
NM_000466.3(PEX1):c.2633TGT[1] (p.Leu879del) rs886043984
NM_000466.3(PEX1):c.2638T>A (p.Tyr880Asn)
NM_000466.3(PEX1):c.2667A>T (p.Leu889Phe) rs2116132673
NM_000466.3(PEX1):c.2687G>T (p.Arg896Leu)
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)
NM_000466.3(PEX1):c.2714T>A (p.Val905Asp) rs2116132179
NM_000466.3(PEX1):c.2719-4A>G
NM_000466.3(PEX1):c.2726A>G (p.Glu909Gly)
NM_000466.3(PEX1):c.2761G>A (p.Ala921Thr) rs2116110846
NM_000466.3(PEX1):c.2783+6T>C rs1585224298
NM_000466.3(PEX1):c.2784-7T>C rs777893142
NM_000466.3(PEX1):c.2817TGA[1] (p.Asp940del) rs1554368794
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.2873_2875delinsT (p.Asp958fs) rs2116094537
NM_000466.3(PEX1):c.2876G>C (p.Arg959Pro) rs773206107
NM_000466.3(PEX1):c.2879T>C (p.Val960Ala)
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.2912T>C (p.Val971Ala) rs745667444
NM_000466.3(PEX1):c.2929G>A (p.Val977Ile)
NM_000466.3(PEX1):c.2941G>A (p.Ala981Thr) rs566068815
NM_000466.3(PEX1):c.2951G>A (p.Ser984Asn)
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)
NM_000466.3(PEX1):c.2995C>A (p.Leu999Ile) rs1791529840
NM_000466.3(PEX1):c.300_302del (p.Val101del)
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.3030+12A>G rs1163936793
NM_000466.3(PEX1):c.3038G>A (p.Arg1013His) rs1484321655
NM_000466.3(PEX1):c.3053A>G (p.Asn1018Ser)
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.3077T>C (p.Leu1026Pro) rs954814470
NM_000466.3(PEX1):c.3080C>T (p.Ala1027Val)
NM_000466.3(PEX1):c.3085G>T (p.Asp1029Tyr)
NM_000466.3(PEX1):c.3108A>G (p.Ala1036=) rs1030151030
NM_000466.3(PEX1):c.3115A>G (p.Thr1039Ala)
NM_000466.3(PEX1):c.3119_3130del (p.Asp1040_Thr1043del) rs1554368148
NM_000466.3(PEX1):c.3120C>G (p.Asp1040Glu) rs2116078096
NM_000466.3(PEX1):c.3122C>T (p.Ser1041Phe)
NM_000466.3(PEX1):c.3151C>T (p.Leu1051Phe)
NM_000466.3(PEX1):c.3161C>T (p.Ala1054Val) rs886062503
NM_000466.3(PEX1):c.3172G>A (p.Ala1058Thr) rs1791428584
NM_000466.3(PEX1):c.3173C>G (p.Ala1058Gly)
NM_000466.3(PEX1):c.3176T>C (p.Leu1059Ser)
NM_000466.3(PEX1):c.317T>G (p.Val106Gly)
NM_000466.3(PEX1):c.3181G>A (p.Gly1061Arg) rs1230486358
NM_000466.3(PEX1):c.3194C>T (p.Ser1065Leu)
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)
NM_000466.3(PEX1):c.3221G>T (p.Ser1074Ile) rs1164302223
NM_000466.3(PEX1):c.323T>C (p.Val108Ala)
NM_000466.3(PEX1):c.3242T>C (p.Leu1081Pro) rs2116060032
NM_000466.3(PEX1):c.3271A>G (p.Ser1091Gly)
NM_000466.3(PEX1):c.3280G>A (p.Asp1094Asn)
NM_000466.3(PEX1):c.32G>T (p.Gly11Val)
NM_000466.3(PEX1):c.3340T>A (p.Ser1114Thr)
NM_000466.3(PEX1):c.3341C>T (p.Ser1114Phe)
NM_000466.3(PEX1):c.3379C>T (p.Arg1127Trp)
NM_000466.3(PEX1):c.337G>A (p.Ala113Thr)
NM_000466.3(PEX1):c.3380G>A (p.Arg1127Gln)
NM_000466.3(PEX1):c.3395G>A (p.Ser1132Asn) rs2116057948
NM_000466.3(PEX1):c.340G>T (p.Asp114Tyr)
NM_000466.3(PEX1):c.3416G>A (p.Gly1139Glu)
NM_000466.3(PEX1):c.3419_3424del (p.Asn1140_Gly1141del) rs758076338
NM_000466.3(PEX1):c.3425C>A (p.Thr1142Asn)
NM_000466.3(PEX1):c.3438G>A (p.Leu1146=) rs1585214175
NM_000466.3(PEX1):c.3439-5T>G
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.346T>C (p.Trp116Arg)
NM_000466.3(PEX1):c.3494C>T (p.Pro1165Leu)
NM_000466.3(PEX1):c.3502G>A (p.Asp1168Asn)
NM_000466.3(PEX1):c.3503A>C (p.Asp1168Ala) rs182452430
NM_000466.3(PEX1):c.3546A>G (p.Gln1182=) rs886062502
NM_000466.3(PEX1):c.3549G>C (p.Glu1183Asp)
NM_000466.3(PEX1):c.3572A>C (p.Glu1191Ala) rs2116043736
NM_000466.3(PEX1):c.3585A>T (p.Gln1195His)
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.3610A>G (p.Lys1204Glu)
NM_000466.3(PEX1):c.3617G>T (p.Arg1206Ile) rs574785174
NM_000466.3(PEX1):c.3618A>G (p.Arg1206=)
NM_000466.3(PEX1):c.3627C>T (p.Ser1209=) rs886062501
NM_000466.3(PEX1):c.3632G>A (p.Ser1211Asn)
NM_000466.3(PEX1):c.3634G>C (p.Gly1212Arg)
NM_000466.3(PEX1):c.3636+6G>C
NM_000466.3(PEX1):c.3697C>T (p.His1233Tyr)
NM_000466.3(PEX1):c.36_38dup (p.Gly14dup) rs1554378403
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.3732_3736dup (p.Ser1246fs) rs1554366550
NM_000466.3(PEX1):c.3756T>A (p.Asn1252Lys) rs553001596
NM_000466.3(PEX1):c.3767+1_3767+2dup rs1383361108
NM_000466.3(PEX1):c.3768-1G>A rs770868309
NM_000466.3(PEX1):c.3768-2A>T rs1554365998
NM_000466.3(PEX1):c.3776G>C (p.Ser1259Thr)
NM_000466.3(PEX1):c.3781C>A (p.Gln1261Lys) rs2116022906
NM_000466.3(PEX1):c.3788C>A (p.Pro1263Gln)
NM_000466.3(PEX1):c.3788C>G (p.Pro1263Arg)
NM_000466.3(PEX1):c.379G>A (p.Glu127Lys)
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)
NM_000466.3(PEX1):c.3832C>A (p.Gln1278Lys) rs750722718
NM_000466.3(PEX1):c.385C>T (p.His129Tyr)
NM_000466.3(PEX1):c.38G>A (p.Gly13Asp)
NM_000466.3(PEX1):c.400A>G (p.Ile134Val) rs1346290048
NM_000466.3(PEX1):c.401T>C (p.Ile134Thr)
NM_000466.3(PEX1):c.431C>T (p.Pro144Leu) rs1792891356
NM_000466.3(PEX1):c.445C>A (p.Gln149Lys)
NM_000466.3(PEX1):c.452C>T (p.Thr151Met)
NM_000466.3(PEX1):c.455A>G (p.Tyr152Cys) rs1792889273
NM_000466.3(PEX1):c.468A>G (p.Gln156=) rs149729088
NM_000466.3(PEX1):c.472+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)
NM_000466.3(PEX1):c.545G>A (p.Arg182His)
NM_000466.3(PEX1):c.545G>C (p.Arg182Pro) rs199591182
NM_000466.3(PEX1):c.548G>A (p.Arg183Gln)
NM_000466.3(PEX1):c.561T>G (p.Asn187Lys) rs944593088
NM_000466.3(PEX1):c.578A>G (p.Asp193Gly) rs886062507
NM_000466.3(PEX1):c.601A>G (p.Ser201Gly)
NM_000466.3(PEX1):c.608G>A (p.Gly203Glu) rs755103969
NM_000466.3(PEX1):c.617A>G (p.Gln206Arg)
NM_000466.3(PEX1):c.61T>C (p.Phe21Leu)
NM_000466.3(PEX1):c.631A>G (p.Lys211Glu)
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.686A>G (p.Asn229Ser)
NM_000466.3(PEX1):c.68A>G (p.Asn23Ser) rs1793399605
NM_000466.3(PEX1):c.704T>C (p.Ile235Thr)
NM_000466.3(PEX1):c.716C>T (p.Ser239Leu)
NM_000466.3(PEX1):c.742A>C (p.Met248Leu)
NM_000466.3(PEX1):c.74G>A (p.Arg25His)
NM_000466.3(PEX1):c.791C>T (p.Ser264Phe)
NM_000466.3(PEX1):c.851A>G (p.Asp284Gly)
NM_000466.3(PEX1):c.852C>A (p.Asp284Glu) rs1792859390
NM_000466.3(PEX1):c.859T>G (p.Phe287Val) rs1792858913
NM_000466.3(PEX1):c.881C>G (p.Pro294Arg)
NM_000466.3(PEX1):c.896A>G (p.Asn299Ser)
NM_000466.3(PEX1):c.898G>T (p.Ala300Ser) rs751506204
NM_000466.3(PEX1):c.899C>T (p.Ala300Val)
NM_000466.3(PEX1):c.907A>G (p.Thr303Ala)
NM_000466.3(PEX1):c.920A>C (p.His307Pro)
NM_000466.3(PEX1):c.920A>G (p.His307Arg)
NM_000466.3(PEX1):c.927C>G (p.His309Gln) rs2116244426
NM_000466.3(PEX1):c.945T>G (p.Phe315Leu) rs1792852764
NM_000466.3(PEX1):c.947C>T (p.Pro316Leu) rs1296643317
NM_000466.3(PEX1):c.968A>T (p.Asp323Val)
NM_000466.3(PEX1):c.96G>A (p.Pro32=) rs1445565547
NM_000466.3(PEX1):c.973G>C (p.Glu325Gln)
NM_000466.3(PEX1):c.977C>T (p.Pro326Leu) rs1341957716
NM_000466.3(PEX1):c.97C>T (p.Arg33Trp)
NM_000466.3(PEX1):c.981C>G (p.Ser327Arg) rs370441413
NM_001127649.3(PEX26):c.*112C>T rs761715161
NM_001127649.3(PEX26):c.*1136G>A rs886057251
NM_001127649.3(PEX26):c.*1488T>C rs1926993079
NM_001127649.3(PEX26):c.*1623GTTT[7] rs375436648
NM_001127649.3(PEX26):c.*1639G>T rs12484897
NM_001127649.3(PEX26):c.*1957G>T rs11913772
NM_001127649.3(PEX26):c.*2070del rs886057256
NM_001127649.3(PEX26):c.*2282G>A rs183054849
NM_001127649.3(PEX26):c.*2452G>C rs886057258
NM_001127649.3(PEX26):c.*2523C>T rs752154886
NM_001127649.3(PEX26):c.*2647G>A rs886057259
NM_001127649.3(PEX26):c.*2799dup rs751296123
NM_001127649.3(PEX26):c.*2904T>C rs555003472
NM_001127649.3(PEX26):c.*533A>C rs886057247
NM_001127649.3(PEX26):c.*568G>A rs886057248
NM_001127649.3(PEX26):c.*609GA[3] rs886057249
NM_001127649.3(PEX26):c.*802A>G rs1046921426
NM_001127649.3(PEX26):c.*829A>T rs362057
NM_001127649.3(PEX26):c.-375G>A rs752393777
NM_001127649.3(PEX26):c.-80C>T rs1926378615
NM_001127649.3(PEX26):c.103G>A (p.Val35Met)
NM_001127649.3(PEX26):c.107A>G (p.Asp36Gly)
NM_001127649.3(PEX26):c.109C>T (p.Leu37Phe) rs1926397048
NM_001127649.3(PEX26):c.119A>C (p.Glu40Ala) rs1158271855
NM_001127649.3(PEX26):c.119A>G (p.Glu40Gly)
NM_001127649.3(PEX26):c.121G>A (p.Ala41Thr)
NM_001127649.3(PEX26):c.122C>T (p.Ala41Val) rs1926398102
NM_001127649.3(PEX26):c.129CCT[1] (p.Leu45del) rs1926398431
NM_001127649.3(PEX26):c.134T>C (p.Leu45Pro) rs61752132
NM_001127649.3(PEX26):c.145C>G (p.Leu49Val)
NM_001127649.3(PEX26):c.148G>C (p.Asp50His) rs1926400002
NM_001127649.3(PEX26):c.155G>A (p.Arg52Gln) rs746924588
NM_001127649.3(PEX26):c.174C>G (p.Cys58Trp)
NM_001127649.3(PEX26):c.175G>A (p.Glu59Lys)
NM_001127649.3(PEX26):c.179G>A (p.Arg60Gln)
NM_001127649.3(PEX26):c.17C>T (p.Ser6Leu) rs770013891
NM_001127649.3(PEX26):c.187C>A (p.Gln63Lys)
NM_001127649.3(PEX26):c.205G>C (p.Ala69Pro) rs372192286
NM_001127649.3(PEX26):c.20C>T (p.Thr7Ile) rs1273090730
NM_001127649.3(PEX26):c.211G>T (p.Ala71Ser) rs1329985456
NM_001127649.3(PEX26):c.214G>A (p.Glu72Lys) rs754081996
NM_001127649.3(PEX26):c.218A>T (p.Glu73Val)
NM_001127649.3(PEX26):c.224C>G (p.Ala75Gly)
NM_001127649.3(PEX26):c.224C>T (p.Ala75Val)
NM_001127649.3(PEX26):c.227G>A (p.Gly76Asp) rs751562812
NM_001127649.3(PEX26):c.227G>T (p.Gly76Val)
NM_001127649.3(PEX26):c.228C>T (p.Gly76=) rs786205556
NM_001127649.3(PEX26):c.230+8C>T rs886057245
NM_001127649.3(PEX26):c.236T>C (p.Leu79Ser)
NM_001127649.3(PEX26):c.237G>C (p.Leu79Phe)
NM_001127649.3(PEX26):c.245A>G (p.Lys82Arg)
NM_001127649.3(PEX26):c.250T>A (p.Ser84Thr) rs1482137285
NM_001127649.3(PEX26):c.262G>A (p.Val88Met) rs555951210
NM_001127649.3(PEX26):c.274G>A (p.Ala92Thr)
NM_001127649.3(PEX26):c.283G>A (p.Glu95Lys)
NM_001127649.3(PEX26):c.331C>A (p.Gln111Lys)
NM_001127649.3(PEX26):c.333G>T (p.Gln111His)
NM_001127649.3(PEX26):c.334G>C (p.Val112Leu) rs1926486603
NM_001127649.3(PEX26):c.337C>T (p.Pro113Ser)
NM_001127649.3(PEX26):c.350C>T (p.Pro117Leu)
NM_001127649.3(PEX26):c.352C>G (p.Pro118Ala) rs1196346206
NM_001127649.3(PEX26):c.352C>T (p.Pro118Ser) rs1196346206
NM_001127649.3(PEX26):c.353C>A (p.Pro118His) rs61752135
NM_001127649.3(PEX26):c.353C>G (p.Pro118Arg) rs61752135
NM_001127649.3(PEX26):c.356A>G (p.Lys119Arg)
NM_001127649.3(PEX26):c.35T>C (p.Leu12Pro)
NM_001127649.3(PEX26):c.362T>G (p.Leu121Arg)
NM_001127649.3(PEX26):c.371+6T>C rs1769569086
NM_001127649.3(PEX26):c.374T>C (p.Ile125Thr) rs2123654101
NM_001127649.3(PEX26):c.381A>T (p.Leu127Phe) rs781745366
NM_001127649.3(PEX26):c.388A>C (p.Lys130Gln) rs2123654132
NM_001127649.3(PEX26):c.393G>A (p.Met131Ile)
NM_001127649.3(PEX26):c.401C>T (p.Pro134Leu) rs1223290401
NM_001127649.3(PEX26):c.40G>A (p.Gly14Arg) rs1926389027
NM_001127649.3(PEX26):c.412C>A (p.Leu138Met)
NM_001127649.3(PEX26):c.43C>T (p.Leu15Phe)
NM_001127649.3(PEX26):c.448A>G (p.Asn150Asp)
NM_001127649.3(PEX26):c.472G>A (p.Ala158Thr)
NM_001127649.3(PEX26):c.473C>A (p.Ala158Asp)
NM_001127649.3(PEX26):c.47G>A (p.Gly16Glu) rs1321820881
NM_001127649.3(PEX26):c.493C>A (p.Gln165Lys)
NM_001127649.3(PEX26):c.494A>G (p.Gln165Arg)
NM_001127649.3(PEX26):c.515G>C (p.Gly172Ala) rs2123654402
NM_001127649.3(PEX26):c.52C>A (p.Pro18Thr) rs924635830
NM_001127649.3(PEX26):c.563G>C (p.Gly188Ala)
NM_001127649.3(PEX26):c.569A>G (p.Glu190Gly) rs201867828
NM_001127649.3(PEX26):c.577C>A (p.Leu193Met)
NM_001127649.3(PEX26):c.58C>G (p.Arg20Gly) rs1215836822
NM_001127649.3(PEX26):c.598C>T (p.His200Tyr)
NM_001127649.3(PEX26):c.59G>A (p.Arg20His)
NM_001127649.3(PEX26):c.601A>G (p.Thr201Ala) rs866813788
NM_001127649.3(PEX26):c.620A>C (p.Lys207Thr)
NM_001127649.3(PEX26):c.625G>T (p.Glu209Ter) rs886057246
NM_001127649.3(PEX26):c.629A>G (p.His210Arg)
NM_001127649.3(PEX26):c.641A>G (p.Glu214Gly) rs2123654686
NM_001127649.3(PEX26):c.662T>A (p.Leu221Gln) rs767345970
NM_001127649.3(PEX26):c.667G>A (p.Gly223Ser) rs899632797
NM_001127649.3(PEX26):c.668-3C>G
NM_001127649.3(PEX26):c.692C>T (p.Ser231Leu) rs2123657386
NM_001127649.3(PEX26):c.697C>T (p.Pro233Ser) rs1488593497
NM_001127649.3(PEX26):c.71C>T (p.Pro24Leu) rs771847925
NM_001127649.3(PEX26):c.721G>A (p.Asp241Asn)
NM_001127649.3(PEX26):c.732G>A (p.Val244=)
NM_001127649.3(PEX26):c.738C>A (p.His246Gln) rs1380881201
NM_001127649.3(PEX26):c.745T>C (p.Ser249Pro) rs1926792505
NM_001127649.3(PEX26):c.748C>G (p.Leu250Val) rs1049902849
NM_001127649.3(PEX26):c.74T>G (p.Val25Gly) rs2123644052
NM_001127649.3(PEX26):c.751C>G (p.Pro251Ala) rs2123657589
NM_001127649.3(PEX26):c.761A>T (p.Lys254Met) rs2123657617
NM_001127649.3(PEX26):c.773C>A (p.Ala258Asp)
NM_001127649.3(PEX26):c.77G>A (p.Arg26His) rs770555305
NM_001127649.3(PEX26):c.77G>C (p.Arg26Pro) rs770555305
NM_001127649.3(PEX26):c.77G>T (p.Arg26Leu) rs770555305
NM_001127649.3(PEX26):c.784C>G (p.Leu262Val)
NM_001127649.3(PEX26):c.784C>T (p.Leu262Phe) rs776346270
NM_001127649.3(PEX26):c.814+15C>T rs1926797835
NM_001127649.3(PEX26):c.832C>T (p.His278Tyr)
NM_001127649.3(PEX26):c.855G>C (p.Gln285His)
NM_001127649.3(PEX26):c.856C>G (p.Leu286Val)
NM_001127649.3(PEX26):c.872G>A (p.Arg291Gln)
NM_001127649.3(PEX26):c.887C>A (p.Ser296Tyr)
NM_001127649.3(PEX26):c.900G>C (p.Gln300His)
NM_001127649.3(PEX26):c.904C>G (p.Arg302Gly)
NM_001127649.3(PEX26):c.905G>A (p.Arg302His)
NM_001127649.3(PEX26):c.913G>A (p.Asp305Asn)
NM_001127649.3(PEX26):c.98C>G (p.Pro33Arg) rs368118099
NM_001256447.2(BCAP31):c.317C>T (p.Ala106Val) rs2091621117
NM_001256447.2(BCAP31):c.477+8del
NM_001256447.2(BCAP31):c.492C>G (p.Asp164Glu) rs782648908
NM_001256447.2(BCAP31):c.709G>C (p.Val237Leu)
NM_001277062.2(MFF):c.223G>A (p.Asp75Asn)
NM_001277062.2(MFF):c.337C>A (p.Pro113Thr) rs1414317381
NM_001277062.2(MFF):c.403G>A (p.Val135Ile)
NM_001277062.2(MFF):c.856T>C (p.Trp286Arg) rs2076297587
NM_001351132.2(PEX5):c.*1080T>C rs755972180
NM_001351132.2(PEX5):c.*1089T>C rs886049834
NM_001351132.2(PEX5):c.*1134T>C rs769928491
NM_001351132.2(PEX5):c.*171A>G rs1945423860
NM_001351132.2(PEX5):c.*1C>T rs886049827
NM_001351132.2(PEX5):c.*249C>G rs1945433657
NM_001351132.2(PEX5):c.*61C>A rs746752569
NM_001351132.2(PEX5):c.*677G>T rs886049830
NM_001351132.2(PEX5):c.*766C>T rs764837013
NM_001351132.2(PEX5):c.*991_*992dup rs886049833
NM_001351132.2(PEX5):c.-17+21_-17+22insCCG rs886049824
NM_001351132.2(PEX5):c.-17+22_-17+40delinsCC rs775869915
NM_001351132.2(PEX5):c.-17+40T>C rs796452917
NM_001351132.2(PEX5):c.-49G>A rs886049823
NM_001351132.2(PEX5):c.-49G>T rs886049823
NM_001351132.2(PEX5):c.-55C>G rs886049822
NM_001351132.2(PEX5):c.-69C>T rs886049821
NM_001351132.2(PEX5):c.1037T>C (p.Leu346Pro) rs2136227054
NM_001351132.2(PEX5):c.1048G>A (p.Asp350Asn)
NM_001351132.2(PEX5):c.1061C>G (p.Ala354Gly)
NM_001351132.2(PEX5):c.107G>A (p.Arg36Lys) rs2135878731
NM_001351132.2(PEX5):c.107G>C (p.Arg36Thr) rs2135878731
NM_001351132.2(PEX5):c.1082C>G (p.Ala361Gly)
NM_001351132.2(PEX5):c.1092G>C (p.Gln364His)
NM_001351132.2(PEX5):c.1110+5G>A rs2136228030
NM_001351132.2(PEX5):c.1132A>G (p.Thr378Ala) rs2136230585
NM_001351132.2(PEX5):c.113G>T (p.Gly38Val)
NM_001351132.2(PEX5):c.1145A>G (p.Asn382Ser) rs2136230724
NM_001351132.2(PEX5):c.1151A>G (p.Gln384Arg) rs2136230787
NM_001351132.2(PEX5):c.115C>T (p.Pro39Ser) rs751937990
NM_001351132.2(PEX5):c.1165A>C (p.Ile389Leu)
NM_001351132.2(PEX5):c.1166_1168dup (p.Ile389dup) rs774781585
NM_001351132.2(PEX5):c.1177C>T (p.Arg393Trp)
NM_001351132.2(PEX5):c.1181+4A>G rs2136231209
NM_001351132.2(PEX5):c.1182G>A (p.Arg394=) rs199624284
NM_001351132.2(PEX5):c.1182G>T (p.Arg394Ser) rs199624284
NM_001351132.2(PEX5):c.1198C>T (p.Pro400Ser)
NM_001351132.2(PEX5):c.1201G>A (p.Asp401Asn) rs1945098580
NM_001351132.2(PEX5):c.1202A>G (p.Asp401Gly)
NM_001351132.2(PEX5):c.120G>C (p.Trp40Cys) rs2135879116
NM_001351132.2(PEX5):c.121C>A (p.Pro41Thr) rs781410836
NM_001351132.2(PEX5):c.1229C>T (p.Ala410Val)
NM_001351132.2(PEX5):c.122C>A (p.Pro41His) rs772786048
NM_001351132.2(PEX5):c.122C>T (p.Pro41Leu) rs772786048
NM_001351132.2(PEX5):c.1241C>T (p.Thr414Ile) rs1458919607
NM_001351132.2(PEX5):c.1246G>A (p.Glu416Lys) rs1945105117
NM_001351132.2(PEX5):c.124C>G (p.Pro42Ala) rs2135879394
NM_001351132.2(PEX5):c.1252C>A (p.Leu418Met) rs2136236124
NM_001351132.2(PEX5):c.125C>G (p.Pro42Arg)
NM_001351132.2(PEX5):c.125C>T (p.Pro42Leu)
NM_001351132.2(PEX5):c.1265C>T (p.Ala422Val) rs1945109944
NM_001351132.2(PEX5):c.1267T>C (p.Cys423Arg) rs2136236516
NM_001351132.2(PEX5):c.1280G>T (p.Arg427Leu) rs774915360
NM_001351132.2(PEX5):c.1282G>A (p.Asp428Asn)
NM_001351132.2(PEX5):c.1289T>C (p.Leu430Pro)
NM_001351132.2(PEX5):c.1312C>T (p.His438Tyr) rs2136237273
NM_001351132.2(PEX5):c.1315C>A (p.Leu439Met) rs756242143
NM_001351132.2(PEX5):c.131C>T (p.Ala44Val) rs372992555
NM_001351132.2(PEX5):c.1321A>G (p.Thr441Ala) rs2136237401
NM_001351132.2(PEX5):c.1322C>T (p.Thr441Ile) rs777898843
NM_001351132.2(PEX5):c.133C>T (p.Pro45Ser) rs1379216235
NM_001351132.2(PEX5):c.134C>T (p.Pro45Leu) rs145649593
NM_001351132.2(PEX5):c.1364G>A (p.Ser455Asn)
NM_001351132.2(PEX5):c.137_147+122dup
NM_001351132.2(PEX5):c.1384C>G (p.Leu462Val) rs774709242
NM_001351132.2(PEX5):c.1384C>T (p.Leu462Phe) rs774709242
NM_001351132.2(PEX5):c.1388T>C (p.Leu463Ser) rs2136238274
NM_001351132.2(PEX5):c.1391C>T (p.Ser464Phe)
NM_001351132.2(PEX5):c.1395-14T>C rs1945174737
NM_001351132.2(PEX5):c.1395C>T (p.Asp465=)
NM_001351132.2(PEX5):c.140_147+36del
NM_001351132.2(PEX5):c.1413G>C (p.Val471=) rs115760878
NM_001351132.2(PEX5):c.1419G>T (p.Glu473Asp) rs1945181377
NM_001351132.2(PEX5):c.1438C>T (p.Arg480Trp)
NM_001351132.2(PEX5):c.1462C>A (p.Pro488Thr)
NM_001351132.2(PEX5):c.1462C>G (p.Pro488Ala)
NM_001351132.2(PEX5):c.147+6T>C rs2135881175
NM_001351132.2(PEX5):c.147+77_147+121del
NM_001351132.2(PEX5):c.148-18T>C
NM_001351132.2(PEX5):c.148-20T>G
NM_001351132.2(PEX5):c.1489C>A (p.Leu497Ile) rs2136243573
NM_001351132.2(PEX5):c.1513G>C (p.Asp505His)
NM_001351132.2(PEX5):c.1528T>A (p.Cys510Ser) rs1945199025
NM_001351132.2(PEX5):c.1543C>G (p.Leu515Val) rs370984432
NM_001351132.2(PEX5):c.1552C>T (p.Arg518Cys) rs182028506
NM_001351132.2(PEX5):c.1553G>A (p.Arg518His) rs146183061
NM_001351132.2(PEX5):c.1560+6C>T rs1945208210
NM_001351132.2(PEX5):c.1561-3C>T
NM_001351132.2(PEX5):c.1565A>G (p.Tyr522Cys) rs1205322300
NM_001351132.2(PEX5):c.1582C>G (p.Leu528Val)
NM_001351132.2(PEX5):c.1588G>A (p.Ala530Thr) rs1591804566
NM_001351132.2(PEX5):c.1592C>A (p.Thr531Asn) rs1945293420
NM_001351132.2(PEX5):c.1610A>G (p.Gln537Arg)
NM_001351132.2(PEX5):c.1611G>C (p.Gln537His)
NM_001351132.2(PEX5):c.1618G>A (p.Glu540Lys) rs977141805
NM_001351132.2(PEX5):c.1619A>G (p.Glu540Gly) rs1460981277
NM_001351132.2(PEX5):c.1620A>C (p.Glu540Asp)
NM_001351132.2(PEX5):c.1631C>T (p.Ala544Val)
NM_001351132.2(PEX5):c.1647C>G (p.Leu549=) rs753512677
NM_001351132.2(PEX5):c.1651C>T (p.Leu551Phe) rs2136256584
NM_001351132.2(PEX5):c.1656G>T (p.Gln552His)
NM_001351132.2(PEX5):c.1660G>A (p.Gly554Ser)
NM_001351132.2(PEX5):c.1670G>A (p.Arg557Gln)
NM_001351132.2(PEX5):c.1675C>T (p.Arg559Cys)
NM_001351132.2(PEX5):c.1679A>G (p.Tyr560Cys)
NM_001351132.2(PEX5):c.1684C>G (p.Leu562Val) rs1945310790
NM_001351132.2(PEX5):c.1687G>T (p.Gly563Cys)
NM_001351132.2(PEX5):c.1690A>G (p.Ile564Val) rs778897851
NM_001351132.2(PEX5):c.1691T>C (p.Ile564Thr) rs1945312349
NM_001351132.2(PEX5):c.1708G>A (p.Gly570Arg)
NM_001351132.2(PEX5):c.170C>T (p.Ala57Val)
NM_001351132.2(PEX5):c.1717C>T (p.Arg573Trp)
NM_001351132.2(PEX5):c.1718+5G>A rs1085307998
NM_001351132.2(PEX5):c.1744G>T (p.Ala582Ser) rs2136263113
NM_001351132.2(PEX5):c.1769G>C (p.Arg590Pro)
NM_001351132.2(PEX5):c.1778G>C (p.Arg593Pro)
NM_001351132.2(PEX5):c.1799C>T (p.Ser600Leu) rs748956654
NM_001351132.2(PEX5):c.1811G>A (p.Trp604Ter)
NM_001351132.2(PEX5):c.1819C>G (p.Leu607Val) rs1945371383
NM_001351132.2(PEX5):c.182A>G (p.Glu61Gly)
NM_001351132.2(PEX5):c.183+4A>G rs2135890266
NM_001351132.2(PEX5):c.183+6T>G rs1296968716
NM_001351132.2(PEX5):c.1835C>G (p.Ser612Cys)
NM_001351132.2(PEX5):c.1839G>A (p.Met613Ile) rs750620715
NM_001351132.2(PEX5):c.183G>A (p.Glu61=)
NM_001351132.2(PEX5):c.1850G>C (p.Ser617Thr) rs751637149
NM_001351132.2(PEX5):c.1850G>T (p.Ser617Ile) rs751637149
NM_001351132.2(PEX5):c.1852G>A (p.Asp618Asn)
NM_001351132.2(PEX5):c.1859A>G (p.Tyr620Cys) rs2136266140
NM_001351132.2(PEX5):c.1866_1868del (p.Ala623del)
NM_001351132.2(PEX5):c.1874C>A (p.Ala625Glu)
NM_001351132.2(PEX5):c.1877_1915dup (p.Pro638_Gln639insArgAspLeuSerThrLeuLeuThrMetPheGlyLeuPro)
NM_001351132.2(PEX5):c.1897_1900del (p.Thr633fs) rs1183517073
NM_001351132.2(PEX5):c.1901T>G (p.Met634Arg) rs751798701
NM_001351132.2(PEX5):c.1903_1906del (p.Phe635fs)
NM_001351132.2(PEX5):c.1913C>G (p.Pro638Arg) rs138706552
NM_001351132.2(PEX5):c.1913C>T (p.Pro638Leu) rs138706552
NM_001351132.2(PEX5):c.1917G>C (p.Gln639His) rs1271426444
NM_001351132.2(PEX5):c.196T>C (p.Phe66Leu) rs757539708
NM_001351132.2(PEX5):c.1A>G (p.Met1Val) rs2135875571
NM_001351132.2(PEX5):c.206A>C (p.Asp69Ala) rs2135896856
NM_001351132.2(PEX5):c.20T>C (p.Val7Ala)
NM_001351132.2(PEX5):c.218C>G (p.Pro73Arg)
NM_001351132.2(PEX5):c.224T>C (p.Val75Ala) rs1941053816
NM_001351132.2(PEX5):c.229C>T (p.Arg77Cys) rs768373250
NM_001351132.2(PEX5):c.230G>C (p.Arg77Pro)
NM_001351132.2(PEX5):c.232G>A (p.Ala78Thr)
NM_001351132.2(PEX5):c.237T>G (p.Pro79=)
NM_001351132.2(PEX5):c.23A>G (p.Glu8Gly)
NM_001351132.2(PEX5):c.241A>G (p.Thr81Ala)
NM_001351132.2(PEX5):c.242C>T (p.Thr81Ile)
NM_001351132.2(PEX5):c.24G>T (p.Glu8Asp) rs1488661702
NM_001351132.2(PEX5):c.254A>G (p.Asp85Gly) rs768652769
NM_001351132.2(PEX5):c.257A>T (p.Asp86Val)
NM_001351132.2(PEX5):c.266C>T (p.Ala89Val)
NM_001351132.2(PEX5):c.287A>G (p.Gln96Arg)
NM_001351132.2(PEX5):c.28G>C (p.Glu10Gln) rs747725502
NM_001351132.2(PEX5):c.292A>C (p.Asn98His) rs374327439
NM_001351132.2(PEX5):c.297C>A (p.Phe99Leu) rs573650362
NM_001351132.2(PEX5):c.315A>C (p.Arg105Ser) rs2135899269
NM_001351132.2(PEX5):c.316+6T>C
NM_001351132.2(PEX5):c.317-19TC[4]
NM_001351132.2(PEX5):c.32G>A (p.Cys11Tyr)
NM_001351132.2(PEX5):c.359A>G (p.Gln120Arg) rs1347906263
NM_001351132.2(PEX5):c.37G>A (p.Gly13Ser)
NM_001351132.2(PEX5):c.37G>C (p.Gly13Arg)
NM_001351132.2(PEX5):c.391G>T (p.Val131Leu)
NM_001351132.2(PEX5):c.404A>G (p.Tyr135Cys) rs1385787688
NM_001351132.2(PEX5):c.404A>T (p.Tyr135Phe) rs1385787688
NM_001351132.2(PEX5):c.417C>G (p.Asp139Glu)
NM_001351132.2(PEX5):c.437C>T (p.Ser146Phe)
NM_001351132.2(PEX5):c.44A>G (p.Asn15Ser) rs951795989
NM_001351132.2(PEX5):c.451C>T (p.Pro151Ser)
NM_001351132.2(PEX5):c.452C>T (p.Pro151Leu) rs200720523
NM_001351132.2(PEX5):c.464C>G (p.Ser155Cys) rs1943231620
NM_001351132.2(PEX5):c.466C>G (p.Pro156Ala) rs2136074053
NM_001351132.2(PEX5):c.48G>C (p.Pro16=) rs147958315
NM_001351132.2(PEX5):c.498A>G (p.Gln166=) rs756714515
NM_001351132.2(PEX5):c.502GAG[1] (p.Glu169del) rs773404109
NM_001351132.2(PEX5):c.505G>C (p.Glu169Gln) rs1565693412
NM_001351132.2(PEX5):c.508_510del (p.Lys170del)
NM_001351132.2(PEX5):c.517C>A (p.Leu173Met) rs1943245558
NM_001351132.2(PEX5):c.533G>A (p.Gly178Glu) rs749729761
NM_001351132.2(PEX5):c.536C>T (p.Thr179Ile) rs2136075556
NM_001351132.2(PEX5):c.544G>A (p.Asp182Asn)
NM_001351132.2(PEX5):c.547C>A (p.Arg183Ser) rs746104983
NM_001351132.2(PEX5):c.551G>C (p.Trp184Ser)
NM_001351132.2(PEX5):c.556G>T (p.Asp186Tyr)
NM_001351132.2(PEX5):c.563A>G (p.Tyr188Cys)
NM_001351132.2(PEX5):c.569C>T (p.Pro190Leu) rs2136143100
NM_001351132.2(PEX5):c.579T>A (p.Asp193Glu)
NM_001351132.2(PEX5):c.596G>A (p.Ser199Asn) rs750906889
NM_001351132.2(PEX5):c.620A>T (p.Asp207Val) rs1011160954
NM_001351132.2(PEX5):c.626A>C (p.Lys209Thr)
NM_001351132.2(PEX5):c.626A>G (p.Lys209Arg) rs748132358
NM_001351132.2(PEX5):c.62C>T (p.Ala21Val)
NM_001351132.2(PEX5):c.643-5C>T rs886049826
NM_001351132.2(PEX5):c.645C>A (p.Phe215Leu) rs1944168456
NM_001351132.2(PEX5):c.654C>G (p.Phe218Leu)
NM_001351132.2(PEX5):c.692C>G (p.Ser231Cys)
NM_001351132.2(PEX5):c.693C>A (p.Ser231=)
NM_001351132.2(PEX5):c.694G>A (p.Gly232Ser)
NM_001351132.2(PEX5):c.695G>A (p.Gly232Asp)
NM_001351132.2(PEX5):c.698C>T (p.Ala233Val) rs2136152339
NM_001351132.2(PEX5):c.706G>C (p.Gly236Arg) rs2136152526
NM_001351132.2(PEX5):c.708C>T (p.Gly236=) rs778009052
NM_001351132.2(PEX5):c.710G>A (p.Arg237Gln) rs1011369978
NM_001351132.2(PEX5):c.712G>T (p.Ala238Ser)
NM_001351132.2(PEX5):c.730G>T (p.Ala244Ser) rs1944190059
NM_001351132.2(PEX5):c.733G>A (p.Ala245Thr)
NM_001351132.2(PEX5):c.745C>G (p.Gln249Glu) rs1442020873
NM_001351132.2(PEX5):c.755G>A (p.Gly252Asp) rs1234343542
NM_001351132.2(PEX5):c.793G>A (p.Val265Ile) rs776020873
NM_001351132.2(PEX5):c.799A>T (p.Thr267Ser) rs1445974761
NM_001351132.2(PEX5):c.79G>T (p.Asp27Tyr) rs1940819292
NM_001351132.2(PEX5):c.808C>T (p.Leu270Phe) rs2136158729
NM_001351132.2(PEX5):c.80A>G (p.Asp27Gly) rs2135877981
NM_001351132.2(PEX5):c.822T>A (p.Phe274Leu)
NM_001351132.2(PEX5):c.845A>C (p.Glu282Ala)
NM_001351132.2(PEX5):c.846+5G>A
NM_001351132.2(PEX5):c.846G>A (p.Glu282=)
NM_001351132.2(PEX5):c.846G>T (p.Glu282Asp) rs2136159660
NM_001351132.2(PEX5):c.848C>G (p.Ser283Cys) rs370010815
NM_001351132.2(PEX5):c.848C>T (p.Ser283Phe) rs370010815
NM_001351132.2(PEX5):c.856G>A (p.Asp286Asn) rs1246877750
NM_001351132.2(PEX5):c.878C>G (p.Ala293Gly) rs1216991743
NM_001351132.2(PEX5):c.88C>T (p.Leu30Phe) rs1940821861
NM_001351132.2(PEX5):c.893T>C (p.Met298Thr)
NM_001351132.2(PEX5):c.901C>G (p.Arg301Gly) rs767306549
NM_001351132.2(PEX5):c.902G>A (p.Arg301Gln) rs2136175132
NM_001351132.2(PEX5):c.919C>T (p.Pro307Ser)
NM_001351132.2(PEX5):c.91C>T (p.Arg31Trp) rs767406855
NM_001351132.2(PEX5):c.933C>G (p.Asp311Glu) rs1446059699
NM_001351132.2(PEX5):c.947C>T (p.Thr316Met) rs747529713
NM_001351132.2(PEX5):c.956C>A (p.Thr319Asn) rs1310273629
NM_001351132.2(PEX5):c.961_963del (p.Asp321del) rs1256295273
NM_001351132.2(PEX5):c.965A>G (p.Lys322Arg) rs770028664
NM_001351132.2(PEX5):c.967G>C (p.Gly323Arg)
NM_001351132.2(PEX5):c.973C>G (p.Gln325Glu) rs1369524555
NM_001351132.2(PEX5):c.979GAG[2] (p.Glu329del)
NM_001351132.2(PEX5):c.992C>G (p.Pro331Arg)
NM_001351132.2(PEX5):c.998G>T (p.Arg333Leu) rs59209175
NM_001351132.2(PEX5):c.99G>C (p.Glu33Asp)
NM_002617.4(PEX10):c.*688G>T rs886046141
NM_002617.4(PEX10):c.*744dup rs886046139
NM_002617.4(PEX10):c.*782C>A rs886046138
NM_002617.4(PEX10):c.*798C>T rs886046137
NM_002617.4(PEX10):c.*91A>G rs886046145
NM_002617.4(PEX10):c.*951G>C rs1642943783
NM_002617.4(PEX10):c.-18C>T rs1391106265
NM_002617.4(PEX10):c.-9C>T rs1406863106
NM_002617.4(PEX10):c.102C>G (p.His34Gln)
NM_002617.4(PEX10):c.104G>C (p.Ser35Thr) rs2100441138
NM_002617.4(PEX10):c.105C>G (p.Ser35Arg) rs1339846247
NM_002617.4(PEX10):c.107T>G (p.Leu36Arg)
NM_002617.4(PEX10):c.10G>A (p.Ala4Thr)
NM_002617.4(PEX10):c.110C>A (p.Ala37Glu) rs2100441107
NM_002617.4(PEX10):c.122A>T (p.Lys41Met) rs112163061
NM_002617.4(PEX10):c.148G>A (p.Glu50Lys)
NM_002617.4(PEX10):c.14C>T (p.Ala5Val)
NM_002617.4(PEX10):c.160G>A (p.Asp54Asn) rs1289859085
NM_002617.4(PEX10):c.160G>C (p.Asp54His)
NM_002617.4(PEX10):c.163G>A (p.Val55Met)
NM_002617.4(PEX10):c.178C>A (p.Leu60Ile)
NM_002617.4(PEX10):c.178C>T (p.Leu60Phe) rs2100434691
NM_002617.4(PEX10):c.191C>G (p.Ala64Gly)
NM_002617.4(PEX10):c.202A>T (p.Thr68Ser)
NM_002617.4(PEX10):c.209G>T (p.Gly70Val) rs1643096230
NM_002617.4(PEX10):c.20G>A (p.Ser7Asn)
NM_002617.4(PEX10):c.211G>A (p.Glu71Lys) rs1291325133
NM_002617.4(PEX10):c.214G>A (p.Glu72Lys)
NM_002617.4(PEX10):c.22C>A (p.Pro8Thr)
NM_002617.4(PEX10):c.22C>T (p.Pro8Ser)
NM_002617.4(PEX10):c.233A>G (p.Gln78Arg) rs766966222
NM_002617.4(PEX10):c.235G>A (p.Val79Met)
NM_002617.4(PEX10):c.23C>A (p.Pro8His) rs2100441590
NM_002617.4(PEX10):c.250A>G (p.Ile84Val)
NM_002617.4(PEX10):c.263C>A (p.Ser88Tyr) rs913840649
NM_002617.4(PEX10):c.266C>G (p.Ser89Trp) rs769847524
NM_002617.4(PEX10):c.26C>A (p.Pro9Gln)
NM_002617.4(PEX10):c.271C>A (p.Arg91Ser) rs747921371
NM_002617.4(PEX10):c.274C>G (p.Arg92Gly) rs1214996893
NM_002617.4(PEX10):c.274C>T (p.Arg92Cys) rs1214996893
NM_002617.4(PEX10):c.280G>C (p.Val94Leu) rs142626035
NM_002617.4(PEX10):c.290_291inv (p.Thr97Met)
NM_002617.4(PEX10):c.297T>G (p.His99Gln)
NM_002617.4(PEX10):c.299_300delinsAT (p.Ala100Asp) rs2100429705
NM_002617.4(PEX10):c.29A>G (p.Glu10Gly) rs1367685379
NM_002617.4(PEX10):c.301G>A (p.Val101Ile)
NM_002617.4(PEX10):c.310T>G (p.Tyr104Asp)
NM_002617.4(PEX10):c.313C>G (p.Leu105Val) rs1450880054
NM_002617.4(PEX10):c.31G>A (p.Val11Met) rs1643274878
NM_002617.4(PEX10):c.338T>A (p.Leu113Gln) rs757778155
NM_002617.4(PEX10):c.341A>G (p.Glu114Gly) rs554490737
NM_002617.4(PEX10):c.353A>C (p.Gln118Pro)
NM_002617.4(PEX10):c.358G>C (p.Asp120His) rs2100429329
NM_002617.4(PEX10):c.361C>T (p.Pro121Ser) rs1056200158
NM_002617.4(PEX10):c.374G>A (p.Arg125Gln)
NM_002617.4(PEX10):c.380T>C (p.Leu127Ser)
NM_002617.4(PEX10):c.394G>C (p.Gly132Arg)
NM_002617.4(PEX10):c.406C>T (p.Arg136Cys)
NM_002617.4(PEX10):c.416C>T (p.Ser139Leu)
NM_002617.4(PEX10):c.41C>T (p.Ala14Val)
NM_002617.4(PEX10):c.422C>A (p.Ala141Glu)
NM_002617.4(PEX10):c.431G>C (p.Trp144Ser) rs760785367
NM_002617.4(PEX10):c.434T>C (p.Met145Thr)
NM_002617.4(PEX10):c.436C>G (p.Arg146Gly) rs1184194956
NM_002617.4(PEX10):c.443A>G (p.His148Arg) rs1643086674
NM_002617.4(PEX10):c.444C>A (p.His148Gln)
NM_002617.4(PEX10):c.446C>G (p.Thr149Arg) rs764948458
NM_002617.4(PEX10):c.44C>T (p.Ala15Val)
NM_002617.4(PEX10):c.452C>T (p.Thr151Ile)
NM_002617.4(PEX10):c.475G>C (p.Ala159Pro)
NM_002617.4(PEX10):c.476C>T (p.Ala159Val)
NM_002617.4(PEX10):c.479T>C (p.Leu160Pro) rs199877853
NM_002617.4(PEX10):c.4G>T (p.Ala2Ser) rs770336711
NM_002617.4(PEX10):c.50A>G (p.Lys17Arg) rs1643273662
NM_002617.4(PEX10):c.514G>A (p.Ala172Thr)
NM_002617.4(PEX10):c.521T>A (p.Leu174His) rs1333143056
NM_002617.4(PEX10):c.526C>T (p.Arg176Trp)
NM_002617.4(PEX10):c.52G>C (p.Asp18His) rs61750432
NM_002617.4(PEX10):c.530T>G (p.Leu177Arg) rs1643082013
NM_002617.4(PEX10):c.533A>G (p.His178Arg) rs1643081768
NM_002617.4(PEX10):c.551del (p.Ile184fs) rs1557910202
NM_002617.4(PEX10):c.566A>G (p.Tyr189Cys) rs1278563588
NM_002617.4(PEX10):c.57G>C (p.Glu19Asp)
NM_002617.4(PEX10):c.581G>A (p.Arg194Lys) rs1643079834
NM_002617.4(PEX10):c.589G>A (p.Gly197Arg) rs1397641277
NM_002617.4(PEX10):c.600C>T (p.Tyr200=)
NM_002617.4(PEX10):c.601-1G>C
NM_002617.4(PEX10):c.601-23G>A rs1643028725
NM_002617.4(PEX10):c.601-25G>A
NM_002617.4(PEX10):c.601-29T>C rs1195070492
NM_002617.4(PEX10):c.601-36A>T rs891345902
NM_002617.4(PEX10):c.601-42C>A rs1164836731
NM_002617.4(PEX10):c.601-72_601-71del
NM_002617.4(PEX10):c.601-76C>G
NM_002617.4(PEX10):c.601C>G (p.Leu201Val)
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.605G>C (p.Arg202Pro)
NM_002617.4(PEX10):c.610C>T (p.Arg204Cys)
NM_002617.4(PEX10):c.611G>C (p.Arg204Pro)
NM_002617.4(PEX10):c.619C>T (p.Pro207Ser)
NM_002617.4(PEX10):c.61T>C (p.Tyr21His) rs2100441317
NM_002617.4(PEX10):c.632T>C (p.Leu211Pro)
NM_002617.4(PEX10):c.638C>T (p.Ala213Val)
NM_002617.4(PEX10):c.640C>G (p.Arg214Gly)
NM_002617.4(PEX10):c.643G>A (p.Val215Ile)
NM_002617.4(PEX10):c.64C>T (p.Arg22Cys)
NM_002617.4(PEX10):c.664G>T (p.Val222Phe)
NM_002617.4(PEX10):c.67G>A (p.Gly23Ser)
NM_002617.4(PEX10):c.688C>A (p.Leu230Met) rs1208421193
NM_002617.4(PEX10):c.68G>A (p.Gly23Asp) rs753786568
NM_002617.4(PEX10):c.68G>C (p.Gly23Ala)
NM_002617.4(PEX10):c.695T>C (p.Met232Thr)
NM_002617.4(PEX10):c.712G>A (p.Gly238Ser) rs61736380
NM_002617.4(PEX10):c.729G>C (p.Gln243His) rs2100422638
NM_002617.4(PEX10):c.731G>A (p.Arg244Gln)
NM_002617.4(PEX10):c.737G>A (p.Arg246Lys) rs1335499698
NM_002617.4(PEX10):c.740A>G (p.Lys247Arg) rs1553231833
NM_002617.4(PEX10):c.742G>A (p.Glu248Lys)
NM_002617.4(PEX10):c.744G>C (p.Glu248Asp)
NM_002617.4(PEX10):c.749G>A (p.Arg250Lys)
NM_002617.4(PEX10):c.757C>G (p.Arg253Gly)
NM_002617.4(PEX10):c.757C>T (p.Arg253Cys) rs756537855
NM_002617.4(PEX10):c.758G>T (p.Arg253Leu) rs750769868
NM_002617.4(PEX10):c.768T>A (p.Ser256=) rs368439785
NM_002617.4(PEX10):c.772C>G (p.Arg258Gly) rs760632208
NM_002617.4(PEX10):c.772C>T (p.Arg258Cys)
NM_002617.4(PEX10):c.776+4C>G
NM_002617.4(PEX10):c.776+4C>T rs374719922
NM_002617.4(PEX10):c.778G>C (p.Ala260Pro)
NM_002617.4(PEX10):c.77G>A (p.Arg26Gln)
NM_002617.4(PEX10):c.785T>G (p.Leu262Trp) rs748829349
NM_002617.4(PEX10):c.787GAG[1] (p.Glu264del)
NM_002617.4(PEX10):c.795A>C (p.Arg265Ser) rs1643011506
NM_002617.4(PEX10):c.799G>A (p.Val267Ile)
NM_002617.4(PEX10):c.811C>T (p.Pro271Ser) rs886043542
NM_002617.4(PEX10):c.817T>C (p.Cys273Arg)
NM_002617.4(PEX10):c.817T>G (p.Cys273Gly) rs747389749
NM_002617.4(PEX10):c.81C>G (p.Ser27Arg) rs1257672002
NM_002617.4(PEX10):c.830T>C (p.Leu277Pro) rs724160000
NM_002617.4(PEX10):c.841A>G (p.Arg281Gly) rs2100421628
NM_002617.4(PEX10):c.855_857dup (p.Thr286dup) rs1553231765
NM_002617.4(PEX10):c.876CTG[1] (p.Cys293del) rs1438047457
NM_002617.4(PEX10):c.882G>C (p.Trp294Cys)
NM_002617.4(PEX10):c.899G>T (p.Trp300Leu) rs1643006514
NM_002617.4(PEX10):c.8C>T (p.Pro3Leu)
NM_002617.4(PEX10):c.905G>A (p.Ser302Asn)
NM_002617.4(PEX10):c.908G>C (p.Ser303Thr) rs2100421331
NM_002617.4(PEX10):c.911A>G (p.Lys304Arg)
NM_002617.4(PEX10):c.912+8G>A
NM_002617.4(PEX10):c.913-9T>C rs1642980853
NM_002617.4(PEX10):c.913G>A (p.Ala305Thr) rs2100419175
NM_002617.4(PEX10):c.914C>T (p.Ala305Val)
NM_002617.4(PEX10):c.926T>A (p.Leu309His) rs1175081963
NM_002617.4(PEX10):c.928T>C (p.Cys310Arg)
NM_002617.4(PEX10):c.929G>A (p.Cys310Tyr)
NM_002617.4(PEX10):c.92G>A (p.Gly31Asp) rs1643271462
NM_002617.4(PEX10):c.931C>G (p.Arg311Gly) rs765965290
NM_002617.4(PEX10):c.944C>G (p.Pro315Arg) rs2100418995
NM_002617.4(PEX10):c.946C>T (p.Pro316Ser) rs1642979023
NM_002617.4(PEX10):c.952A>G (p.Lys318Glu) rs762351770
NM_002617.4(PEX10):c.952_954del (p.Lys318del) rs1553231582
NM_002617.4(PEX10):c.953A>G (p.Lys318Arg) rs995942123
NM_002617.4(PEX10):c.968G>C (p.Arg323Pro)
NM_002617.4(PEX10):c.976C>A (p.Arg326Ser)
NM_002617.4(PEX10):c.976C>T (p.Arg326Cys)
NM_002617.4(PEX10):c.981A>G (p.Ter327Trp) rs1358135448
NM_002617.4(PEX10):c.9_17del (p.Ala4_Ala6del) rs2100441672
NM_002618.4(PEX13):c.*1480C>G rs1680773967
NM_002618.4(PEX13):c.*1654T>G rs1680777877
NM_002618.4(PEX13):c.*1875_*1876del rs886056205
NM_002618.4(PEX13):c.*2111A>C rs1680786136
NM_002618.4(PEX13):c.*2236A>C rs146108177
NM_002618.4(PEX13):c.*233G>T rs886056198
NM_002618.4(PEX13):c.*2537T>C rs1680795269
NM_002618.4(PEX13):c.*2918A>G rs1680801956
NM_002618.4(PEX13):c.*2989_*2990del rs886056210
NM_002618.4(PEX13):c.*3044del rs886056212
NM_002618.4(PEX13):c.*318G>C rs1573562372
NM_002618.4(PEX13):c.*436T>C rs1680757708
NM_002618.4(PEX13):c.*442dup rs201619544
NM_002618.4(PEX13):c.*676A>G rs886056200
NM_002618.4(PEX13):c.-12G>A rs886056195
NM_002618.4(PEX13):c.1003G>A (p.Gly335Ser) rs1680746099
NM_002618.4(PEX13):c.1003G>C (p.Gly335Arg) rs1680746099
NM_002618.4(PEX13):c.1027G>A (p.Val343Met) rs1680746493
NM_002618.4(PEX13):c.1033T>A (p.Ser345Thr) rs2104814598
NM_002618.4(PEX13):c.1037G>A (p.Ser346Asn)
NM_002618.4(PEX13):c.1040A>G (p.Lys347Arg) rs2104814606
NM_002618.4(PEX13):c.1042G>A (p.Val348Ile)
NM_002618.4(PEX13):c.1042G>C (p.Val348Leu) rs1680746855
NM_002618.4(PEX13):c.1045T>C (p.Ser349Pro) rs747286284
NM_002618.4(PEX13):c.1046C>T (p.Ser349Phe) rs1367527916
NM_002618.4(PEX13):c.1049A>G (p.Lys350Arg) rs1052212655
NM_002618.4(PEX13):c.1052A>C (p.Gln351Pro)
NM_002618.4(PEX13):c.1052A>G (p.Gln351Arg)
NM_002618.4(PEX13):c.1058A>T (p.Gln353Leu)
NM_002618.4(PEX13):c.1071C>G (p.Asn357Lys) rs1371570388
NM_002618.4(PEX13):c.1075A>G (p.Thr359Ala)
NM_002618.4(PEX13):c.1084A>G (p.Lys362Glu)
NM_002618.4(PEX13):c.1088G>A (p.Gly363Glu)
NM_002618.4(PEX13):c.1090G>A (p.Ala364Thr) rs550344775
NM_002618.4(PEX13):c.1097T>C (p.Val366Ala) rs1441442802
NM_002618.4(PEX13):c.1127C>A (p.Ala376Asp) rs1412376429
NM_002618.4(PEX13):c.1132G>C (p.Glu378Gln) rs1167111884
NM_002618.4(PEX13):c.1138G>T (p.Val380Phe)
NM_002618.4(PEX13):c.113C>T (p.Thr38Ile)
NM_002618.4(PEX13):c.1143T>A (p.Phe381Leu) rs1680750260
NM_002618.4(PEX13):c.1151C>G (p.Thr384Ser) rs1680750357
NM_002618.4(PEX13):c.1158G>C (p.Lys386Asn) rs371789976
NM_002618.4(PEX13):c.1159G>A (p.Val387Ile)
NM_002618.4(PEX13):c.115T>G (p.Leu39Val)
NM_002618.4(PEX13):c.1163C>T (p.Pro388Leu) rs1203618499
NM_002618.4(PEX13):c.1169C>T (p.Ala390Val)
NM_002618.4(PEX13):c.1180A>G (p.Ile394Val)
NM_002618.4(PEX13):c.1186A>G (p.Lys396Glu) rs749088744
NM_002618.4(PEX13):c.1193G>A (p.Gly398Glu) rs1680751404
NM_002618.4(PEX13):c.1199A>T (p.Lys400Met)
NM_002618.4(PEX13):c.119T>C (p.Met40Thr)
NM_002618.4(PEX13):c.1205A>G (p.Asp402Gly)
NM_002618.4(PEX13):c.121A>G (p.Thr41Ala) rs757604504
NM_002618.4(PEX13):c.135A>T (p.Gln45His)
NM_002618.4(PEX13):c.151G>A (p.Val51Met) rs2104803197
NM_002618.4(PEX13):c.163A>G (p.Ile55Val)
NM_002618.4(PEX13):c.193A>G (p.Ser65Gly) rs886056196
NM_002618.4(PEX13):c.202G>A (p.Val68Met) rs1553423403
NM_002618.4(PEX13):c.206A>G (p.Asn69Ser)
NM_002618.4(PEX13):c.208A>G (p.Thr70Ala)
NM_002618.4(PEX13):c.209C>G (p.Thr70Ser) rs2104803233
NM_002618.4(PEX13):c.239C>T (p.Ser80Phe)
NM_002618.4(PEX13):c.23C>T (p.Pro8Leu)
NM_002618.4(PEX13):c.254A>G (p.Tyr85Cys)
NM_002618.4(PEX13):c.268T>G (p.Tyr90Asp)
NM_002618.4(PEX13):c.26C>A (p.Pro9His)
NM_002618.4(PEX13):c.26C>G (p.Pro9Arg) rs764069625
NM_002618.4(PEX13):c.275G>A (p.Gly92Asp) rs745620818
NM_002618.4(PEX13):c.283C>T (p.Pro95Ser) rs1680451211
NM_002618.4(PEX13):c.289A>G (p.Ser97Gly)
NM_002618.4(PEX13):c.296G>T (p.Gly99Val)
NM_002618.4(PEX13):c.29A>G (p.Lys10Arg) rs1230492316
NM_002618.4(PEX13):c.29A>T (p.Lys10Ile)
NM_002618.4(PEX13):c.302A>G (p.Asn101Ser) rs1680451583
NM_002618.4(PEX13):c.307C>G (p.Leu103Val) rs767987790
NM_002618.4(PEX13):c.314A>G (p.Tyr105Cys)
NM_002618.4(PEX13):c.31C>G (p.Pro11Ala) rs1680108011
NM_002618.4(PEX13):c.326G>C (p.Arg109Pro) rs372193938
NM_002618.4(PEX13):c.32C>A (p.Pro11His) rs564528921
NM_002618.4(PEX13):c.32C>G (p.Pro11Arg) rs564528921
NM_002618.4(PEX13):c.32C>T (p.Pro11Leu) rs564528921
NM_002618.4(PEX13):c.340C>G (p.Pro114Ala)
NM_002618.4(PEX13):c.379A>T (p.Arg127Trp) rs1224323223
NM_002618.4(PEX13):c.382G>C (p.Gly128Arg)
NM_002618.4(PEX13):c.382G>T (p.Gly128Cys)
NM_002618.4(PEX13):c.383G>T (p.Gly128Val) rs554152771
NM_002618.4(PEX13):c.393G>T (p.Gln131His)
NM_002618.4(PEX13):c.417A>G (p.Ala139=) rs886056197
NM_002618.4(PEX13):c.419T>C (p.Phe140Ser)
NM_002618.4(PEX13):c.431G>T (p.Ser144Ile) rs762747711
NM_002618.4(PEX13):c.448A>G (p.Thr150Ala)
NM_002618.4(PEX13):c.458C>T (p.Ala153Val) rs2104803452
NM_002618.4(PEX13):c.460G>A (p.Val154Ile) rs2104803454
NM_002618.4(PEX13):c.463T>C (p.Tyr155His) rs2104803455
NM_002618.4(PEX13):c.475A>G (p.Arg159Gly) rs2104803471
NM_002618.4(PEX13):c.478G>C (p.Ala160Pro) rs1559035602
NM_002618.4(PEX13):c.487G>C (p.Asp163His) rs969985837
NM_002618.4(PEX13):c.488A>T (p.Asp163Val) rs2104803479
NM_002618.4(PEX13):c.520C>T (p.His174Tyr)
NM_002618.4(PEX13):c.523T>C (p.Phe175Leu)
NM_002618.4(PEX13):c.529_531del (p.Lys177del) rs1680456530
NM_002618.4(PEX13):c.53C>T (p.Pro18Leu) rs2104787557
NM_002618.4(PEX13):c.556A>T (p.Arg186Trp) rs2104803544
NM_002618.4(PEX13):c.562A>G (p.Ile188Val) rs1360784990
NM_002618.4(PEX13):c.563T>C (p.Ile188Thr) rs2104803547
NM_002618.4(PEX13):c.566G>A (p.Arg189Gln) rs777179456
NM_002618.4(PEX13):c.566G>T (p.Arg189Leu) rs777179456
NM_002618.4(PEX13):c.568T>C (p.Tyr190His) rs2104803558
NM_002618.4(PEX13):c.590G>A (p.Arg197Gln)
NM_002618.4(PEX13):c.594G>A (p.Met198Ile) rs1388373241
NM_002618.4(PEX13):c.59C>G (p.Ala20Gly) rs2104787633
NM_002618.4(PEX13):c.605G>A (p.Arg202Lys) rs1336466520
NM_002618.4(PEX13):c.610G>A (p.Gly204Ser) rs2104803612
NM_002618.4(PEX13):c.611G>C (p.Gly204Ala)
NM_002618.4(PEX13):c.618G>C (p.Glu206Asp) rs1680458661
NM_002618.4(PEX13):c.625G>T (p.Asp209Tyr)
NM_002618.4(PEX13):c.629T>C (p.Leu210Pro)
NM_002618.4(PEX13):c.640A>G (p.Ser214Gly) rs2104803638
NM_002618.4(PEX13):c.641G>C (p.Ser214Thr) rs1207829224
NM_002618.4(PEX13):c.647G>C (p.Gly216Ala)
NM_002618.4(PEX13):c.656C>T (p.Ala219Val)
NM_002618.4(PEX13):c.662T>G (p.Leu221Arg) rs1475093874
NM_002618.4(PEX13):c.67G>C (p.Gly23Arg)
NM_002618.4(PEX13):c.68G>A (p.Gly23Glu)
NM_002618.4(PEX13):c.696A>C (p.Lys232Asn) rs1680460565
NM_002618.4(PEX13):c.706A>G (p.Ile236Val) rs1292217685
NM_002618.4(PEX13):c.70C>T (p.Pro24Ser)
NM_002618.4(PEX13):c.712T>G (p.Leu238Val) rs1680460970
NM_002618.4(PEX13):c.716T>C (p.Phe239Ser)
NM_002618.4(PEX13):c.719T>G (p.Phe240Cys)
NM_002618.4(PEX13):c.723T>A (p.Ala241=) rs1205501080
NM_002618.4(PEX13):c.727A>G (p.Ile243Val)
NM_002618.4(PEX13):c.745C>T (p.Leu249Phe) rs2104803738
NM_002618.4(PEX13):c.769C>T (p.His257Tyr)
NM_002618.4(PEX13):c.774T>A (p.Ser258Arg)
NM_002618.4(PEX13):c.778G>C (p.Glu260Gln)
NM_002618.4(PEX13):c.787G>C (p.Asp263His) rs766753038
NM_002618.4(PEX13):c.802G>A (p.Ala268Thr) rs762797895
NM_002618.4(PEX13):c.805A>G (p.Ser269Gly)
NM_002618.4(PEX13):c.806G>C (p.Ser269Thr) rs2104812693
NM_002618.4(PEX13):c.815A>G (p.Asp272Gly) rs2104812700
NM_002618.4(PEX13):c.838G>C (p.Glu280Gln)
NM_002618.4(PEX13):c.845A>G (p.Asp282Gly) rs1573560642
NM_002618.4(PEX13):c.846T>G (p.Asp282Glu)
NM_002618.4(PEX13):c.847T>G (p.Phe283Val) rs1680696228
NM_002618.4(PEX13):c.848T>C (p.Phe283Ser)
NM_002618.4(PEX13):c.853G>C (p.Ala285Pro) rs2104812755
NM_002618.4(PEX13):c.85A>G (p.Thr29Ala)
NM_002618.4(PEX13):c.867A>C (p.Glu289Asp)
NM_002618.4(PEX13):c.86C>A (p.Thr29Asn) rs543856265
NM_002618.4(PEX13):c.871A>G (p.Ile291Val) rs1444535263
NM_002618.4(PEX13):c.872T>C (p.Ile291Thr)
NM_002618.4(PEX13):c.883G>T (p.Ala295Ser)
NM_002618.4(PEX13):c.892A>T (p.Met298Leu) rs2104812788
NM_002618.4(PEX13):c.89T>C (p.Phe30Ser) rs771610641
NM_002618.4(PEX13):c.913+3A>G rs2104812816
NM_002618.4(PEX13):c.92+15C>T
NM_002618.4(PEX13):c.928G>C (p.Val310Leu)
NM_002618.4(PEX13):c.955G>C (p.Asp319His)
NM_002618.4(PEX13):c.95C>A (p.Ser32Tyr)
NM_002618.4(PEX13):c.965C>T (p.Thr322Ile) rs920607306
NM_002618.4(PEX13):c.977T>C (p.Ile326Thr) rs61752115
NM_002618.4(PEX13):c.978A>G (p.Ile326Met) rs1680745437
NM_002618.4(PEX13):c.980C>T (p.Pro327Leu) rs1680745521
NM_002618.4(PEX13):c.98C>A (p.Ala33Asp) rs1458042764
NM_002618.4(PEX13):c.995A>G (p.Lys332Arg) rs1234870387
NM_002618.4(PEX13):c.996A>C (p.Lys332Asn)
NM_002857.4(PEX19):c.*1462C>G rs1233628177
NM_002857.4(PEX19):c.*172G>C rs886045449
NM_002857.4(PEX19):c.*1790A>G rs886045440
NM_002857.4(PEX19):c.*2417CT[2] rs143491060
NM_002857.4(PEX19):c.*361G>A rs886045448
NM_002857.4(PEX19):c.*582G>A rs1657648265
NM_002857.4(PEX19):c.*934A>G rs886045444
NM_002857.4(PEX19):c.*998G>A rs886045443
NM_002857.4(PEX19):c.115C>G (p.Pro39Ala) rs144256391
NM_002857.4(PEX19):c.115C>T (p.Pro39Ser) rs144256391
NM_002857.4(PEX19):c.118T>G (p.Ser40Ala)
NM_002857.4(PEX19):c.11C>A (p.Ala4Asp) rs766641297
NM_002857.4(PEX19):c.122_123insAGA (p.Thr41_Thr42insAsp) rs2101805810
NM_002857.4(PEX19):c.128C>T (p.Thr43Met)
NM_002857.4(PEX19):c.13G>A (p.Glu5Lys)
NM_002857.4(PEX19):c.149C>A (p.Pro50His) rs11550117
NM_002857.4(PEX19):c.149C>T (p.Pro50Leu) rs11550117
NM_002857.4(PEX19):c.152A>G (p.Gln51Arg) rs2101805717
NM_002857.4(PEX19):c.152AGA[1] (p.Lys52del) rs2101805702
NM_002857.4(PEX19):c.166G>A (p.Gly56Arg) rs1657873152
NM_002857.4(PEX19):c.172A>G (p.Thr58Ala)
NM_002857.4(PEX19):c.181-4G>T rs747572423
NM_002857.4(PEX19):c.187C>G (p.Leu63Val) rs1166824486
NM_002857.4(PEX19):c.18A>T (p.Glu6Asp)
NM_002857.4(PEX19):c.190T>A (p.Phe64Ile) rs1657846391
NM_002857.4(PEX19):c.199C>G (p.Gln67Glu)
NM_002857.4(PEX19):c.19G>A (p.Gly7Ser) rs963164666
NM_002857.4(PEX19):c.211T>C (p.Phe71Leu)
NM_002857.4(PEX19):c.212T>A (p.Phe71Tyr)
NM_002857.4(PEX19):c.212T>G (p.Phe71Cys)
NM_002857.4(PEX19):c.225C>G (p.Phe75Leu)
NM_002857.4(PEX19):c.239C>T (p.Ala80Val)
NM_002857.4(PEX19):c.23G>A (p.Cys8Tyr) rs369984634
NM_002857.4(PEX19):c.23G>T (p.Cys8Phe) rs369984634
NM_002857.4(PEX19):c.242C>T (p.Ser81Phe) rs766263544
NM_002857.4(PEX19):c.248C>G (p.Ala83Gly) rs1657842985
NM_002857.4(PEX19):c.254C>A (p.Ala85Glu) rs11550119
NM_002857.4(PEX19):c.25A>G (p.Ser9Gly) rs775660692
NM_002857.4(PEX19):c.262G>C (p.Glu88Gln) rs372422266
NM_002857.4(PEX19):c.284C>A (p.Ala95Asp)
NM_002857.4(PEX19):c.302T>G (p.Leu101Arg)
NM_002857.4(PEX19):c.305T>C (p.Val102Ala)
NM_002857.4(PEX19):c.338G>T (p.Gly113Val) rs2101804477
NM_002857.4(PEX19):c.347G>A (p.Gly116Asp) rs1657814596
NM_002857.4(PEX19):c.351T>G (p.Ser117Arg) rs376684423
NM_002857.4(PEX19):c.362C>T (p.Ser121Phe) rs1557854775
NM_002857.4(PEX19):c.383G>A (p.Cys128Tyr) rs2101803261
NM_002857.4(PEX19):c.384C>G (p.Cys128Trp)
NM_002857.4(PEX19):c.395C>G (p.Thr132Arg)
NM_002857.4(PEX19):c.395C>T (p.Thr132Ile) rs770134866
NM_002857.4(PEX19):c.397C>G (p.Leu133Val)
NM_002857.4(PEX19):c.413A>G (p.Lys138Arg) rs745314708
NM_002857.4(PEX19):c.419C>T (p.Ala140Val)
NM_002857.4(PEX19):c.41C>T (p.Ala14Val) rs1657957953
NM_002857.4(PEX19):c.432+3G>A
NM_002857.4(PEX19):c.446C>T (p.Ser149Leu)
NM_002857.4(PEX19):c.45C>G (p.Asp15Glu) rs2101810529
NM_002857.4(PEX19):c.469A>G (p.Met157Val)
NM_002857.4(PEX19):c.46A>T (p.Arg16Trp)
NM_002857.4(PEX19):c.474G>C (p.Glu158Asp)
NM_002857.4(PEX19):c.475G>A (p.Gly159Arg)
NM_002857.4(PEX19):c.481G>C (p.Gly161Arg) rs2101802695
NM_002857.4(PEX19):c.484A>G (p.Met162Val)
NM_002857.4(PEX19):c.485T>C (p.Met162Thr)
NM_002857.4(PEX19):c.499G>A (p.Gly167Arg)
NM_002857.4(PEX19):c.506G>A (p.Gly169Glu) rs748793476
NM_002857.4(PEX19):c.51A>C (p.Glu17Asp) rs1657957259
NM_002857.4(PEX19):c.523A>G (p.Met175Val) rs886044114
NM_002857.4(PEX19):c.524T>C (p.Met175Thr)
NM_002857.4(PEX19):c.527A>C (p.Gln176Pro) rs1231019046
NM_002857.4(PEX19):c.530G>A (p.Ser177Asn)
NM_002857.4(PEX19):c.532A>G (p.Ile178Val) rs2101802538
NM_002857.4(PEX19):c.547C>T (p.Leu183Phe) rs1351664822
NM_002857.4(PEX19):c.563T>C (p.Leu188Pro)
NM_002857.4(PEX19):c.574C>G (p.Leu192Val)
NM_002857.4(PEX19):c.575T>C (p.Leu192Pro)
NM_002857.4(PEX19):c.594+6T>C
NM_002857.4(PEX19):c.5C>T (p.Ala2Val) rs1307265959
NM_002857.4(PEX19):c.615T>A (p.Ser205Arg) rs2101800172
NM_002857.4(PEX19):c.617A>G (p.His206Arg) rs761372588
NM_002857.4(PEX19):c.617A>T (p.His206Leu) rs761372588
NM_002857.4(PEX19):c.619C>G (p.Arg207Gly) rs367813991
NM_002857.4(PEX19):c.630A>C (p.Leu210=) rs202174805
NM_002857.4(PEX19):c.634C>A (p.Pro212Thr)
NM_002857.4(PEX19):c.644T>C (p.Phe215Ser) rs2101800093
NM_002857.4(PEX19):c.661C>G (p.Gln221Glu)
NM_002857.4(PEX19):c.679A>G (p.Lys227Glu)
NM_002857.4(PEX19):c.68A>C (p.Glu23Ala)
NM_002857.4(PEX19):c.692A>G (p.Gln231Arg)
NM_002857.4(PEX19):c.694T>G (p.Phe232Val) rs2101799984
NM_002857.4(PEX19):c.699G>T (p.Glu233Asp)
NM_002857.4(PEX19):c.69A>T (p.Glu23Asp)
NM_002857.4(PEX19):c.70+5G>C rs1158588649
NM_002857.4(PEX19):c.703_704delinsAT (p.Glu235Met) rs1557853548
NM_002857.4(PEX19):c.706A>G (p.Thr236Ala) rs1040267504
NM_002857.4(PEX19):c.713C>A (p.Thr238Lys)
NM_002857.4(PEX19):c.740G>A (p.Arg247His)
NM_002857.4(PEX19):c.744T>A (p.Phe248Leu)
NM_002857.4(PEX19):c.744T>G (p.Phe248Leu) rs1473774134
NM_002857.4(PEX19):c.751G>A (p.Val251Met)
NM_002857.4(PEX19):c.754C>A (p.Leu252Met)
NM_002857.4(PEX19):c.759T>A (p.Asp253Glu)
NM_002857.4(PEX19):c.771+5G>A rs2101799795
NM_002857.4(PEX19):c.779A>G (p.Asp260Gly)
NM_002857.4(PEX19):c.784G>A (p.Gly262Ser)
NM_002857.4(PEX19):c.788A>G (p.His263Arg) rs762620480
NM_002857.4(PEX19):c.808G>A (p.Gly270Arg) rs1657696746
NM_002857.4(PEX19):c.817-9C>A rs2101799148
NM_002857.4(PEX19):c.817C>A (p.Pro273Thr) rs760797797
NM_002857.4(PEX19):c.842A>G (p.Asp281Gly) rs2101799102
NM_002857.4(PEX19):c.854T>C (p.Leu285Pro)
NM_002857.4(PEX19):c.857C>T (p.Ser286Leu) rs149976198
NM_002857.4(PEX19):c.859G>T (p.Gly287Cys)
NM_002857.4(PEX19):c.869G>C (p.Gly290Ala)
NM_002857.4(PEX19):c.878G>A (p.Gly293Asp)
NM_002857.4(PEX19):c.883C>A (p.Gln295Lys)
NM_002857.4(PEX19):c.886T>C (p.Cys296Arg) rs1557853173
NM_002857.4(PEX19):c.887G>A (p.Cys296Tyr) rs1326449698
NM_002857.4(PEX19):c.896T>C (p.Met299Thr) rs2101798984
NM_002857.4(PEX19):c.94G>C (p.Ala32Pro)
NM_002857.4(PEX19):c.94G>T (p.Ala32Ser)
NM_002857.4(PEX19):c.98A>G (p.Lys33Arg)
NM_002979.5(SCP2):c.886C>T (p.Pro296Ser) rs1342599570
NM_003630.3(PEX3):c.*1074A>G rs553070296
NM_003630.3(PEX3):c.*1226A>T rs999619029
NM_003630.3(PEX3):c.*1305C>T rs886061137
NM_003630.3(PEX3):c.*307TA[7] rs1326299129
NM_003630.3(PEX3):c.*321_*322del rs771525459
NM_003630.3(PEX3):c.*377C>T rs1584020851
NM_003630.3(PEX3):c.*708A>G rs1780365449
NM_003630.3(PEX3):c.*742A>G rs1780365756
NM_003630.3(PEX3):c.*793T>C rs535466526
NM_003630.3(PEX3):c.*822A>G rs1780366359
NM_003630.3(PEX3):c.*985T>G rs1212183517
NM_003630.3(PEX3):c.-150CT[3] rs886061131
NM_003630.3(PEX3):c.-175dup rs886061130
NM_003630.3(PEX3):c.1048A>C (p.Thr350Pro) rs1780354202
NM_003630.3(PEX3):c.16T>C (p.Trp6Arg) rs769405267
NM_003630.3(PEX3):c.190A>C (p.Thr64Pro)
NM_003630.3(PEX3):c.332G>T (p.Ser111Ile) rs1780065436
NM_003630.3(PEX3):c.472C>G (p.Pro158Ala) rs1780071841
NM_003630.3(PEX3):c.887C>T (p.Ala296Val) rs886061132
NM_003659.4(AGPS):c.*1105dup rs574941020
NM_003659.4(AGPS):c.*118A>G rs187686783
NM_003659.4(AGPS):c.*1312T>C rs2079213030
NM_003659.4(AGPS):c.*1469T>G rs2079214761
NM_003659.4(AGPS):c.*1811_*1812insAAAA rs138605667
NM_003659.4(AGPS):c.*1836_*1841del rs886055177
NM_003659.4(AGPS):c.*1838AT[10] rs373957026
NM_003659.4(AGPS):c.*1838AT[12] rs373957026
NM_003659.4(AGPS):c.*1860G>A rs62182697
NM_003659.4(AGPS):c.*1860_*1861dup rs1553519847
NM_003659.4(AGPS):c.*1862_*1863del rs886055181
NM_003659.4(AGPS):c.*1862_*1867del rs886055182
NM_003659.4(AGPS):c.*1863_*1864insATGT rs886055183
NM_003659.4(AGPS):c.*1868GT[7] rs1491154667
NM_003659.4(AGPS):c.*1868_*1869insCG rs886055185
NM_003659.4(AGPS):c.*1869T>C rs58814309
NM_003659.4(AGPS):c.*1878_*1883del rs886055186
NM_003659.4(AGPS):c.*1878_*1885del rs886055187
NM_003659.4(AGPS):c.*1880A>G rs58369399
NM_003659.4(AGPS):c.*1880AT[11] rs59535792
NM_003659.4(AGPS):c.*1880AT[7] rs59535792
NM_003659.4(AGPS):c.*1880AT[8] rs59535792
NM_003659.4(AGPS):c.*1882A>G rs1132025
NM_003659.4(AGPS):c.*2318A>G rs77518887
NM_003659.4(AGPS):c.*2582C>T rs886055191
NM_003659.4(AGPS):c.*3524T>C rs2079236633
NM_003659.4(AGPS):c.*361C>T rs1309071911
NM_003659.4(AGPS):c.*3911AGTTTT[1] rs369534713
NM_003659.4(AGPS):c.*4228A>C rs2079245322
NM_003659.4(AGPS):c.*4625C>T rs2079249293
NM_003659.4(AGPS):c.*467_*475del rs886055171
NM_003659.4(AGPS):c.*4788G>T rs2079251648
NM_003659.4(AGPS):c.*5159T>C rs536424736
NM_003659.4(AGPS):c.*5506T>C rs886055200
NM_003659.4(AGPS):c.*947T>G rs886055174
NM_003659.4(AGPS):c.127G>A (p.Gly43Ser)
NM_003659.4(AGPS):c.1363-2A>T rs746449593
NM_003659.4(AGPS):c.1376A>G (p.Asp459Gly) rs1688501814
NM_003659.4(AGPS):c.1566T>C (p.Tyr522=) rs1224416609
NM_003659.4(AGPS):c.1597C>A (p.Pro533Thr) rs886055167
NM_003659.4(AGPS):c.1678G>C (p.Ala560Pro) rs1411152201
NM_003659.4(AGPS):c.1762A>G (p.Ile588Val) rs886055168
NM_003659.4(AGPS):c.1874A>C (p.Gln625Pro) rs769818292
NM_003659.4(AGPS):c.197C>T (p.Ala66Val) rs774854340
NM_003659.4(AGPS):c.258G>A (p.Lys86=) rs1685066744
NM_003659.4(AGPS):c.451A>T (p.Asn151Tyr) rs886055164
NM_003659.4(AGPS):c.582A>G (p.Ile194Met) rs1686432818
NM_003659.4(AGPS):c.774G>A (p.Leu258=) rs1686637520
NM_003659.4(AGPS):c.793C>T (p.Arg265Ter) rs886055165
NM_003659.4(AGPS):c.86CGGACC[3] (p.29PD[3]) rs886055162
NM_003659.4(AGPS):c.870+4T>A rs886055166
NM_003659.4(AGPS):c.952G>A (p.Ala318Thr) rs1171884922
NM_003846.3(PEX11B):c.79CTT[1] (p.Leu28del) rs767294266
NM_004035.6(ACOX1):c.-105C>G rs886053460
NM_004035.7(ACOX1):c.*1276A>G rs545831823
NM_004035.7(ACOX1):c.*1782dup rs886053445
NM_004035.7(ACOX1):c.*1985C>T rs1271734766
NM_004035.7(ACOX1):c.*2021C>G rs1279349605
NM_004035.7(ACOX1):c.*2021C>T rs1279349605
NM_004035.7(ACOX1):c.*2212del rs886053443
NM_004035.7(ACOX1):c.*2235G>C rs539726478
NM_004035.7(ACOX1):c.*2239A>T rs886053442
NM_004035.7(ACOX1):c.*2644G>A rs566241535
NM_004035.7(ACOX1):c.*2875C>T rs150295638
NM_004035.7(ACOX1):c.*2887C>G rs936092624
NM_004035.7(ACOX1):c.*2926T>C rs2065695960
NM_004035.7(ACOX1):c.*3207T>C rs914936809
NM_004035.7(ACOX1):c.*3377dup rs886053440
NM_004035.7(ACOX1):c.*3421T>C rs1005299162
NM_004035.7(ACOX1):c.*3529_*3531dup rs572895309
NM_004035.7(ACOX1):c.*3531dup rs572895309
NM_004035.7(ACOX1):c.*3533del rs886053439
NM_004035.7(ACOX1):c.*3576T>G rs1056216820
NM_004035.7(ACOX1):c.*4295_*4296del rs886053437
NM_004035.7(ACOX1):c.*4296del rs374686428
NM_004035.7(ACOX1):c.*4317_*4318dup rs35173085
NM_004035.7(ACOX1):c.*4387G>C rs2065679181
NM_004035.7(ACOX1):c.*4440C>T rs886053434
NM_004035.7(ACOX1):c.*4579C>T rs886053433
NM_004035.7(ACOX1):c.*478T>C rs886053455
NM_004035.7(ACOX1):c.*4806A>G rs758260276
NM_004035.7(ACOX1):c.*4829AT[1] rs139840183
NM_004035.7(ACOX1):c.*4876C>T rs886053431
NM_004035.7(ACOX1):c.*5037T>C rs532148425
NM_004035.7(ACOX1):c.*5117A>C rs886053430
NM_004035.7(ACOX1):c.*660A>C rs886053454
NM_004035.7(ACOX1):c.*756G>A rs886053452
NM_004035.7(ACOX1):c.*765G>A rs886053451
NM_004035.7(ACOX1):c.*946GTT[1] rs879489092
NM_004035.7(ACOX1):c.*959T>A rs2065714683
NM_004035.7(ACOX1):c.*959dup rs35453987
NM_004035.7(ACOX1):c.-62_-61dup rs886053459
NM_004035.7(ACOX1):c.-92C>T rs2066091561
NM_004035.7(ACOX1):c.1016A>G (p.Tyr339Cys)
NM_004035.7(ACOX1):c.1025A>G (p.Gln342Arg)
NM_004035.7(ACOX1):c.1031T>A (p.Val344Glu)
NM_004035.7(ACOX1):c.1036G>A (p.Ala346Thr)
NM_004035.7(ACOX1):c.1037C>T (p.Ala346Val)
NM_004035.7(ACOX1):c.1060C>T (p.Arg354Trp)
NM_004035.7(ACOX1):c.1070A>T (p.Glu357Val)
NM_004035.7(ACOX1):c.1082A>G (p.Gln361Arg)
NM_004035.7(ACOX1):c.1083A>T (p.Gln361His)
NM_004035.7(ACOX1):c.109G>A (p.Glu37Lys)
NM_004035.7(ACOX1):c.1121C>G (p.Thr374Ser)
NM_004035.7(ACOX1):c.1121C>T (p.Thr374Ile)
NM_004035.7(ACOX1):c.1126G>A (p.Gly376Arg) rs2144240923
NM_004035.7(ACOX1):c.1163G>T (p.Gly388Val)
NM_004035.7(ACOX1):c.116T>A (p.Met39Lys)
NM_004035.7(ACOX1):c.1174T>A (p.Cys392Ser)
NM_004035.7(ACOX1):c.1177C>T (p.Arg393Trp)
NM_004035.7(ACOX1):c.1201T>C (p.Tyr401His)
NM_004035.7(ACOX1):c.1202A>G (p.Tyr401Cys)
NM_004035.7(ACOX1):c.1214G>A (p.Ser405Asn)
NM_004035.7(ACOX1):c.1216G>C (p.Gly406Arg) rs1199045083
NM_004035.7(ACOX1):c.1286T>C (p.Leu429Pro)
NM_004035.7(ACOX1):c.1292C>T (p.Thr431Met)
NM_004035.7(ACOX1):c.1298+3G>A
NM_004035.7(ACOX1):c.1315T>C (p.Tyr439His)
NM_004035.7(ACOX1):c.1318G>A (p.Asp440Asn)
NM_004035.7(ACOX1):c.1333G>A (p.Gly445Arg) rs1486722776
NM_004035.7(ACOX1):c.1337A>G (p.Lys446Arg)
NM_004035.7(ACOX1):c.1351A>G (p.Met451Val)
NM_004035.7(ACOX1):c.1368C>A (p.Asn456Lys) rs151255626
NM_004035.7(ACOX1):c.1384C>T (p.Arg462Cys)
NM_004035.7(ACOX1):c.1385G>A (p.Arg462His) rs760616575
NM_004035.7(ACOX1):c.1406_1408del (p.Ala469del) rs886053457
NM_004035.7(ACOX1):c.1409T>C (p.Val470Ala)
NM_004035.7(ACOX1):c.1421T>C (p.Met474Thr)
NM_004035.7(ACOX1):c.1433A>G (p.Asn478Ser)
NM_004035.7(ACOX1):c.1438C>T (p.Pro480Ser)
NM_004035.7(ACOX1):c.1453G>A (p.Glu485Lys)
NM_004035.7(ACOX1):c.1465C>T (p.Leu489Phe)
NM_004035.7(ACOX1):c.1468C>G (p.Arg490Gly)
NM_004035.7(ACOX1):c.1468C>T (p.Arg490Cys) rs143601596
NM_004035.7(ACOX1):c.1474G>A (p.Ala492Thr) rs2144237294
NM_004035.7(ACOX1):c.1478+5G>T
NM_004035.7(ACOX1):c.1479-12A>G rs2065755060
NM_004035.7(ACOX1):c.1490T>C (p.Ile497Thr)
NM_004035.7(ACOX1):c.1495G>T (p.Ala499Ser)
NM_004035.7(ACOX1):c.1504C>G (p.Leu502Val) rs2065754693
NM_004035.7(ACOX1):c.1523A>G (p.His508Arg)
NM_004035.7(ACOX1):c.1532G>T (p.Ser511Ile)
NM_004035.7(ACOX1):c.153G>T (p.Leu51Phe)
NM_004035.7(ACOX1):c.1556C>A (p.Thr519Asn)
NM_004035.7(ACOX1):c.1561G>T (p.Val521Phe) rs775115439
NM_004035.7(ACOX1):c.1565A>G (p.Asp522Gly)
NM_004035.7(ACOX1):c.1574G>A (p.Arg525Gln)
NM_004035.7(ACOX1):c.1582G>A (p.Glu528Lys)
NM_004035.7(ACOX1):c.1584+6T>C
NM_004035.7(ACOX1):c.1603G>A (p.Val535Ile)
NM_004035.7(ACOX1):c.1627C>A (p.Leu543Ile)
NM_004035.7(ACOX1):c.1649C>T (p.Ala550Val)
NM_004035.7(ACOX1):c.1657G>A (p.Ala553Thr)
NM_004035.7(ACOX1):c.1666A>T (p.Arg556Trp) rs2144235593
NM_004035.7(ACOX1):c.166C>T (p.Arg56Cys)
NM_004035.7(ACOX1):c.1693T>C (p.Tyr565His) rs1461902421
NM_004035.7(ACOX1):c.1698_1699delinsTC (p.Ile567Leu) rs2144235491
NM_004035.7(ACOX1):c.16C>A (p.Arg6Ser) rs141670654
NM_004035.7(ACOX1):c.16C>T (p.Arg6Cys)
NM_004035.7(ACOX1):c.1711G>A (p.Ala571Thr)
NM_004035.7(ACOX1):c.1711G>T (p.Ala571Ser)
NM_004035.7(ACOX1):c.1712C>T (p.Ala571Val)
NM_004035.7(ACOX1):c.1728+4A>G
NM_004035.7(ACOX1):c.1728G>C (p.Gln576His) rs2144235359
NM_004035.7(ACOX1):c.1738A>G (p.Met580Val)
NM_004035.7(ACOX1):c.1755T>G (p.Ile585Met)
NM_004035.7(ACOX1):c.1771C>A (p.Arg591Ser) rs35629489
NM_004035.7(ACOX1):c.1780G>A (p.Glu594Lys)
NM_004035.7(ACOX1):c.1804G>C (p.Asp602His)
NM_004035.7(ACOX1):c.1866C>A (p.Gly622=) rs886053456
NM_004035.7(ACOX1):c.1867C>T (p.Arg623Cys)
NM_004035.7(ACOX1):c.1941C>A (p.His647Gln) rs768307965
NM_004035.7(ACOX1):c.1942G>A (p.Glu648Lys)
NM_004035.7(ACOX1):c.1944A>T (p.Glu648Asp) rs374691393
NM_004035.7(ACOX1):c.1970A>G (p.Gln657Arg)
NM_004035.7(ACOX1):c.199A>C (p.Ser67Arg) rs1431722229
NM_004035.7(ACOX1):c.205A>G (p.Ile69Val)
NM_004035.7(ACOX1):c.208A>G (p.Met70Val) rs2066081272
NM_004035.7(ACOX1):c.233G>A (p.Gly78Asp) rs2144330484
NM_004035.7(ACOX1):c.249T>G (p.Asp83Glu)
NM_004035.7(ACOX1):c.256A>G (p.Met86Val) rs2144330430
NM_004035.7(ACOX1):c.25C>G (p.Arg9Gly)
NM_004035.7(ACOX1):c.269+10C>T
NM_004035.7(ACOX1):c.269+4787A>G
NM_004035.7(ACOX1):c.270-8C>G rs751892262
NM_004035.7(ACOX1):c.281G>A (p.Arg94Gln)
NM_004035.7(ACOX1):c.286C>T (p.Arg96Trp)
NM_004035.7(ACOX1):c.287G>A (p.Arg96Gln)
NM_004035.7(ACOX1):c.292G>C (p.Glu98Gln)
NM_004035.7(ACOX1):c.312G>C (p.Leu104Phe)
NM_004035.7(ACOX1):c.317T>C (p.Met106Thr) rs192681738
NM_004035.7(ACOX1):c.339C>G (p.His113Gln) rs368106231
NM_004035.7(ACOX1):c.34G>C (p.Ala12Pro) rs2144332345
NM_004035.7(ACOX1):c.364C>T (p.Arg122Cys)
NM_004035.7(ACOX1):c.375G>T (p.Met125Ile)
NM_004035.7(ACOX1):c.379G>A (p.Ala127Thr)
NM_004035.7(ACOX1):c.44A>T (p.Asn15Ile)
NM_004035.7(ACOX1):c.460G>T (p.Ala154Ser) rs145324538
NM_004035.7(ACOX1):c.464C>A (p.Thr155Lys)
NM_004035.7(ACOX1):c.505A>C (p.Thr169Pro) rs2144262728
NM_004035.7(ACOX1):c.521A>G (p.Lys174Arg) rs2065844122
NM_004035.7(ACOX1):c.539-3C>T
NM_004035.7(ACOX1):c.545A>G (p.Lys182Arg)
NM_004035.7(ACOX1):c.565G>A (p.Val189Ile)
NM_004035.7(ACOX1):c.572C>T (p.Ala191Val)
NM_004035.7(ACOX1):c.580A>C (p.Ile194Leu) rs2065820485
NM_004035.7(ACOX1):c.583A>G (p.Thr195Ala)
NM_004035.7(ACOX1):c.5A>G (p.Asn2Ser)
NM_004035.7(ACOX1):c.616A>G (p.Ile206Val)
NM_004035.7(ACOX1):c.619G>A (p.Val207Ile)
NM_004035.7(ACOX1):c.620T>C (p.Val207Ala)
NM_004035.7(ACOX1):c.628C>T (p.Arg210Cys)
NM_004035.7(ACOX1):c.658+3A>G
NM_004035.7(ACOX1):c.658+4A>G rs886053458
NM_004035.7(ACOX1):c.659-19G>T
NM_004035.7(ACOX1):c.68T>C (p.Leu23Pro)
NM_004035.7(ACOX1):c.692G>T (p.Gly231Val)
NM_004035.7(ACOX1):c.71A>T (p.Asp24Val)
NM_004035.7(ACOX1):c.731A>G (p.Asn244Ser)
NM_004035.7(ACOX1):c.736C>T (p.Arg246Cys)
NM_004035.7(ACOX1):c.73G>A (p.Gly25Ser)
NM_004035.7(ACOX1):c.796G>A (p.Val266Met)
NM_004035.7(ACOX1):c.79C>T (p.Pro27Ser)
NM_004035.7(ACOX1):c.809G>A (p.Ser270Asn)
NM_004035.7(ACOX1):c.815A>G (p.Lys272Arg)
NM_004035.7(ACOX1):c.859G>A (p.Gly287Arg) rs1476487288
NM_004035.7(ACOX1):c.859G>C (p.Gly287Arg)
NM_004035.7(ACOX1):c.887C>T (p.Ala296Val)
NM_004035.7(ACOX1):c.8C>T (p.Pro3Leu)
NM_004035.7(ACOX1):c.913G>A (p.Ala305Thr)
NM_004035.7(ACOX1):c.944+6G>T
NM_004035.7(ACOX1):c.944+7A>G
NM_004035.7(ACOX1):c.944G>A (p.Gly315Asp) rs1567875611
NM_004035.7(ACOX1):c.945-3T>C
NM_004035.7(ACOX1):c.950C>T (p.Pro317Leu) rs2144242572
NM_004035.7(ACOX1):c.986A>G (p.Tyr329Cys)
NM_004565.2(PEX14):c.987_995dup (p.Asp331_Asp332insGluGluAsp) rs1318692969
NM_004565.3(PEX14):c.*174C>T rs886045018
NM_004565.3(PEX14):c.*400G>T rs886045019
NM_004565.3(PEX14):c.*515C>T rs886045020
NM_004565.3(PEX14):c.*570C>T rs1641898212
NM_004565.3(PEX14):c.*616C>T rs541842608
NM_004565.3(PEX14):c.*685A>T rs1156589089
NM_004565.3(PEX14):c.*755del rs548721184
NM_004565.3(PEX14):c.1000G>A (p.Val334Met) rs2124650794
NM_004565.3(PEX14):c.1008T>G (p.His336Gln) rs770817636
NM_004565.3(PEX14):c.1010T>C (p.Val337Ala) rs1258983860
NM_004565.3(PEX14):c.1015G>A (p.Glu339Lys) rs1570377732
NM_004565.3(PEX14):c.101A>G (p.Lys34Arg) rs2124482101
NM_004565.3(PEX14):c.1024_1047del (p.Cys342_Asp349del) rs749458457
NM_004565.3(PEX14):c.1030G>C (p.Gly344Arg)
NM_004565.3(PEX14):c.1033G>A (p.Val345Met)
NM_004565.3(PEX14):c.1036C>A (p.Gln346Lys)
NM_004565.3(PEX14):c.1036C>G (p.Gln346Glu)
NM_004565.3(PEX14):c.1048C>T (p.Arg350Cys) rs1641869464
NM_004565.3(PEX14):c.1051C>T (p.Arg351Trp)
NM_004565.3(PEX14):c.1052G>C (p.Arg351Pro)
NM_004565.3(PEX14):c.1057G>A (p.Gly353Arg) rs1641870710
NM_004565.3(PEX14):c.1093C>T (p.Arg365Trp) rs904521069
NM_004565.3(PEX14):c.1108G>T (p.Ala370Ser) rs1557443140
NM_004565.3(PEX14):c.1119G>C (p.Glu373Asp)
NM_004565.3(PEX14):c.1120A>C (p.Ser374Arg) rs2124651161
NM_004565.3(PEX14):c.1120_1121del (p.Glu373_Ser374insTer) rs2124651144
NM_004565.3(PEX14):c.1124A>C (p.Glu375Ala) rs1337084727
NM_004565.3(PEX14):c.119G>A (p.Arg40Gln) rs573113329
NM_004565.3(PEX14):c.133C>T (p.Pro45Ser)
NM_004565.3(PEX14):c.140C>A (p.Ala47Glu) rs2124482219
NM_004565.3(PEX14):c.154T>C (p.Phe52Leu) rs2124482255
NM_004565.3(PEX14):c.168A>G (p.Lys56=)
NM_004565.3(PEX14):c.169+4C>T
NM_004565.3(PEX14):c.16C>G (p.Gln6Glu)
NM_004565.3(PEX14):c.190G>A (p.Asp64Asn) rs535743906
NM_004565.3(PEX14):c.19G>A (p.Ala7Thr)
NM_004565.3(PEX14):c.20C>T (p.Ala7Val) rs759852702
NM_004565.3(PEX14):c.229C>T (p.Pro77Ser)
NM_004565.3(PEX14):c.22G>C (p.Glu8Gln) rs2124356750
NM_004565.3(PEX14):c.236C>T (p.Ser79Phe)
NM_004565.3(PEX14):c.245C>T (p.Pro82Leu)
NM_004565.3(PEX14):c.247G>A (p.Ala83Thr) rs1557866347
NM_004565.3(PEX14):c.259G>A (p.Val87Ile)
NM_004565.3(PEX14):c.269A>G (p.Gln90Arg) rs1640919599
NM_004565.3(PEX14):c.26A>G (p.Gln9Arg) rs201979629
NM_004565.3(PEX14):c.271C>G (p.Pro91Ala) rs2124602763
NM_004565.3(PEX14):c.279C>A (p.His93Gln) rs1238733367
NM_004565.3(PEX14):c.281T>G (p.Leu94Arg)
NM_004565.3(PEX14):c.286T>G (p.Ser96Ala) rs2124602826
NM_004565.3(PEX14):c.28C>T (p.Pro10Ser) rs1007978005
NM_004565.3(PEX14):c.295T>C (p.Tyr99His) rs2124602853
NM_004565.3(PEX14):c.304G>T (p.Ala102Ser) rs753731034
NM_004565.3(PEX14):c.307G>A (p.Gly103Ser)
NM_004565.3(PEX14):c.31A>G (p.Ser11Gly) rs896802943
NM_004565.3(PEX14):c.31A>T (p.Ser11Cys) rs896802943
NM_004565.3(PEX14):c.32G>A (p.Ser11Asn) rs2124356828
NM_004565.3(PEX14):c.334C>G (p.Leu112Val)
NM_004565.3(PEX14):c.345C>G (p.Ile115Met)
NM_004565.3(PEX14):c.356T>C (p.Ile119Thr)
NM_004565.3(PEX14):c.36+3A>G rs2124356856
NM_004565.3(PEX14):c.36+5G>A rs756953282
NM_004565.3(PEX14):c.36+5G>C
NM_004565.3(PEX14):c.370C>T (p.His124Tyr)
NM_004565.3(PEX14):c.395T>C (p.Leu132Pro) rs1553121467
NM_004565.3(PEX14):c.398C>G (p.Pro133Arg)
NM_004565.3(PEX14):c.413G>A (p.Gly138Asp) rs1641640630
NM_004565.3(PEX14):c.416G>T (p.Arg139Leu) rs147683525
NM_004565.3(PEX14):c.419A>G (p.Glu140Gly)
NM_004565.3(PEX14):c.421G>A (p.Asp141Asn) rs1641641278
NM_004565.3(PEX14):c.425G>A (p.Arg142Lys) rs1641641457
NM_004565.3(PEX14):c.428A>G (p.Lys143Arg) rs2124639369
NM_004565.3(PEX14):c.442A>T (p.Met148Leu)
NM_004565.3(PEX14):c.460G>C (p.Glu154Gln)
NM_004565.3(PEX14):c.485C>A (p.Thr162Lys) rs2124639470
NM_004565.3(PEX14):c.4_5delinsTT (p.Ala2Leu) rs2124356650
NM_004565.3(PEX14):c.517G>A (p.Val173Ile) rs200019568
NM_004565.3(PEX14):c.519C>G (p.Val173=)
NM_004565.3(PEX14):c.535C>G (p.Gln179Glu)
NM_004565.3(PEX14):c.566A>G (p.His189Arg)
NM_004565.3(PEX14):c.585+19C>T
NM_004565.3(PEX14):c.585+4C>A rs1283396816
NM_004565.3(PEX14):c.585G>A (p.Lys195=)
NM_004565.3(PEX14):c.596C>G (p.Ser199Cys) rs932537713
NM_004565.3(PEX14):c.602A>C (p.Asn201Thr) rs142285791
NM_004565.3(PEX14):c.626T>C (p.Ile209Thr) rs758355392
NM_004565.3(PEX14):c.629A>G (p.Asn210Ser)
NM_004565.3(PEX14):c.631G>A (p.Glu211Lys) rs777737482
NM_004565.3(PEX14):c.631G>C (p.Glu211Gln)
NM_004565.3(PEX14):c.646A>C (p.Ile216Leu) rs898010278
NM_004565.3(PEX14):c.652T>C (p.Ser218Pro)
NM_004565.3(PEX14):c.677+6_677+8del
NM_004565.3(PEX14):c.697C>G (p.Pro233Ala)
NM_004565.3(PEX14):c.700T>G (p.Ser234Ala)
NM_004565.3(PEX14):c.703G>C (p.Ala235Pro) rs778227279
NM_004565.3(PEX14):c.707C>T (p.Pro236Leu) rs141373791
NM_004565.3(PEX14):c.709A>G (p.Lys237Glu)
NM_004565.3(PEX14):c.70C>T (p.Pro24Ser)
NM_004565.3(PEX14):c.715C>T (p.Pro239Ser) rs745559681
NM_004565.3(PEX14):c.721T>C (p.Trp241Arg) rs2124649865
NM_004565.3(PEX14):c.743C>A (p.Pro248Gln) rs553512429
NM_004565.3(PEX14):c.74G>A (p.Arg25Gln)
NM_004565.3(PEX14):c.752C>T (p.Ser251Phe) rs1160685953
NM_004565.3(PEX14):c.758del (p.Pro253fs) rs35723571
NM_004565.3(PEX14):c.761C>T (p.Ala254Val) rs149265608
NM_004565.3(PEX14):c.767T>C (p.Val256Ala)
NM_004565.3(PEX14):c.76G>A (p.Glu26Lys) rs748746721
NM_004565.3(PEX14):c.806A>C (p.Asn269Thr)
NM_004565.3(PEX14):c.80C>T (p.Pro27Leu) rs1161833863
NM_004565.3(PEX14):c.815C>T (p.Thr272Met)
NM_004565.3(PEX14):c.816GTC[1] (p.Ser275del) rs1641853895
NM_004565.3(PEX14):c.820T>C (p.Ser274Pro)
NM_004565.3(PEX14):c.850G>A (p.Glu284Lys) rs763093176
NM_004565.3(PEX14):c.854_859dup (p.Ser286_Thr287insSerSer) rs1641856216
NM_004565.3(PEX14):c.856T>C (p.Ser286Pro)
NM_004565.3(PEX14):c.857C>T (p.Ser286Phe)
NM_004565.3(PEX14):c.861G>T (p.Thr287=) rs371329619
NM_004565.3(PEX14):c.862G>A (p.Val288Ile) rs1207319506
NM_004565.3(PEX14):c.881G>A (p.Gly294Asp)
NM_004565.3(PEX14):c.883C>A (p.Pro295Thr) rs886045017
NM_004565.3(PEX14):c.883C>T (p.Pro295Ser) rs886045017
NM_004565.3(PEX14):c.889G>A (p.Glu297Lys) rs2124650376
NM_004565.3(PEX14):c.890A>C (p.Glu297Ala)
NM_004565.3(PEX14):c.904G>C (p.Val302Leu)
NM_004565.3(PEX14):c.908T>C (p.Val303Ala) rs1160257639
NM_004565.3(PEX14):c.913G>A (p.Val305Ile)
NM_004565.3(PEX14):c.92C>T (p.Thr31Met) rs1570228034
NM_004565.3(PEX14):c.937G>A (p.Val313Met)
NM_004565.3(PEX14):c.946G>A (p.Glu316Lys) rs903736101
NM_004565.3(PEX14):c.946GAG[2] (p.Glu318del) rs1557442698
NM_004565.3(PEX14):c.959_967del (p.Arg320_Asp322del) rs2124650605
NM_004565.3(PEX14):c.964G>T (p.Asp322Tyr)
NM_004565.3(PEX14):c.967A>G (p.Lys323Glu) rs368244738
NM_004565.3(PEX14):c.970G>A (p.Glu324Lys) rs1641863492
NM_004565.3(PEX14):c.976G>A (p.Glu326Lys) rs748930085
NM_004565.3(PEX14):c.992ATG[2] (p.Asp333del) rs760231440
NM_004565.3(PEX14):c.992ATG[4] (p.Asp333dup) rs760231440
NM_004565.3(PEX14):c.997G>T (p.Asp333Tyr) rs2124650787
NM_004813.2(PEX16):c.-265C>T rs886048330
NM_004813.2(PEX16):c.-290C>G rs886048331
NM_004813.2(PEX16):c.-305C>T rs886048332
NM_004813.2(PEX16):c.-67C>A rs886048329
NM_004813.4(PEX16):c.*324G>A rs879320611
NM_004813.4(PEX16):c.*376G>A rs143868125
NM_004813.4(PEX16):c.*491G>A rs886048324
NM_004813.4(PEX16):c.-63G>C rs532003586
NM_004813.4(PEX16):c.1001G>A (p.Ser334Asn)
NM_004813.4(PEX16):c.1001G>C (p.Ser334Thr)
NM_004813.4(PEX16):c.103C>G (p.Leu35Val) rs1427588700
NM_004813.4(PEX16):c.112+5C>A
NM_004813.4(PEX16):c.112+5C>T
NM_004813.4(PEX16):c.119T>A (p.Phe40Tyr)
NM_004813.4(PEX16):c.134A>T (p.Glu45Val) rs2134699091
NM_004813.4(PEX16):c.149-3C>T
NM_004813.4(PEX16):c.165C>G (p.Asn55Lys) rs746381331
NM_004813.4(PEX16):c.169C>T (p.Leu57Phe) rs1224855761
NM_004813.4(PEX16):c.16C>T (p.Leu6Phe) rs2086855399
NM_004813.4(PEX16):c.170T>C (p.Leu57Pro) rs2086834282
NM_004813.4(PEX16):c.172G>A (p.Val58Met) rs1287709761
NM_004813.4(PEX16):c.178C>G (p.Leu60Val) rs2086834164
NM_004813.4(PEX16):c.206T>G (p.Leu69Arg) rs761652611
NM_004813.4(PEX16):c.215A>G (p.Lys72Arg)
NM_004813.4(PEX16):c.216G>C (p.Lys72Asn)
NM_004813.4(PEX16):c.221C>T (p.Pro74Leu)
NM_004813.4(PEX16):c.225+3G>A
NM_004813.4(PEX16):c.230T>C (p.Leu77Pro) rs2086828379
NM_004813.4(PEX16):c.25C>T (p.Leu9Phe) rs1369455274
NM_004813.4(PEX16):c.262G>T (p.Val88Leu) rs567165324
NM_004813.4(PEX16):c.293T>C (p.Met98Thr) rs755886932
NM_004813.4(PEX16):c.306G>C (p.Lys102Asn) rs2134696027
NM_004813.4(PEX16):c.307G>C (p.Val103Leu) rs11553094
NM_004813.4(PEX16):c.310T>C (p.Trp104Arg)
NM_004813.4(PEX16):c.319G>A (p.Val107Met)
NM_004813.4(PEX16):c.334G>A (p.Val112Ile)
NM_004813.4(PEX16):c.348C>T (p.Val116=) rs886048328
NM_004813.4(PEX16):c.34C>A (p.Gln12Lys) rs2086854813
NM_004813.4(PEX16):c.359A>T (p.Lys120Met) rs1431364536
NM_004813.4(PEX16):c.360-18A>G
NM_004813.4(PEX16):c.360-9C>A rs1316866259
NM_004813.4(PEX16):c.389G>C (p.Trp130Ser)
NM_004813.4(PEX16):c.418C>A (p.Pro140Thr) rs749891033
NM_004813.4(PEX16):c.418C>G (p.Pro140Ala) rs749891033
NM_004813.4(PEX16):c.419C>A (p.Pro140His)
NM_004813.4(PEX16):c.421A>C (p.Ile141Leu) rs761426585
NM_004813.4(PEX16):c.424G>A (p.Val142Ile)
NM_004813.4(PEX16):c.437G>A (p.Arg146Lys)
NM_004813.4(PEX16):c.442A>T (p.Thr148Ser)
NM_004813.4(PEX16):c.454C>A (p.Pro152Thr) rs1357832796
NM_004813.4(PEX16):c.459G>A (p.Pro153=) rs377135763
NM_004813.4(PEX16):c.460+3G>A
NM_004813.4(PEX16):c.460+5G>A rs2134695257
NM_004813.4(PEX16):c.461-6T>A
NM_004813.4(PEX16):c.461-8C>A
NM_004813.4(PEX16):c.463G>A (p.Gly155Ser) rs2134693988
NM_004813.4(PEX16):c.464G>A (p.Gly155Asp)
NM_004813.4(PEX16):c.469C>A (p.His157Asn) rs2134693966
NM_004813.4(PEX16):c.485A>G (p.His162Arg)
NM_004813.4(PEX16):c.488A>G (p.Glu163Gly)
NM_004813.4(PEX16):c.493T>C (p.Ser165Pro)
NM_004813.4(PEX16):c.494C>A (p.Ser165Tyr) rs2086814861
NM_004813.4(PEX16):c.527G>A (p.Arg176Gln)
NM_004813.4(PEX16):c.540C>G (p.Asn180Lys) rs886048327
NM_004813.4(PEX16):c.554A>G (p.His185Arg) rs751814237
NM_004813.4(PEX16):c.574C>T (p.Pro192Ser)
NM_004813.4(PEX16):c.584G>A (p.Arg195Gln)
NM_004813.4(PEX16):c.584G>T (p.Arg195Leu)
NM_004813.4(PEX16):c.595C>A (p.Gln199Lys) rs770726448
NM_004813.4(PEX16):c.599A>G (p.Gln200Arg) rs772953974
NM_004813.4(PEX16):c.628C>T (p.Pro210Ser) rs754114296
NM_004813.4(PEX16):c.635C>T (p.Pro212Leu)
NM_004813.4(PEX16):c.637C>G (p.Leu213Val)
NM_004813.4(PEX16):c.649_651del (p.Glu217del) rs1403262719
NM_004813.4(PEX16):c.651G>T (p.Glu217Asp) rs761544516
NM_004813.4(PEX16):c.653C>A (p.Thr218Asn)
NM_004813.4(PEX16):c.659C>T (p.Ala220Val) rs2134692997
NM_004813.4(PEX16):c.672C>T (p.Tyr224=) rs746173483
NM_004813.4(PEX16):c.673A>G (p.Ile225Val)
NM_004813.4(PEX16):c.686T>C (p.Leu229Pro)
NM_004813.4(PEX16):c.694+3A>G
NM_004813.4(PEX16):c.694+6C>A rs2134692834
NM_004813.4(PEX16):c.700A>G (p.Ser234Gly)
NM_004813.4(PEX16):c.703C>G (p.Leu235Val) rs765315257
NM_004813.4(PEX16):c.706G>C (p.Gly236Arg) rs757071504
NM_004813.4(PEX16):c.707G>T (p.Gly236Val) rs2134692571
NM_004813.4(PEX16):c.714G>C (p.Trp238Cys)
NM_004813.4(PEX16):c.716G>A (p.Gly239Asp)
NM_004813.4(PEX16):c.725C>T (p.Ser242Leu)
NM_004813.4(PEX16):c.740T>C (p.Leu247Pro) rs2086807248
NM_004813.4(PEX16):c.760G>A (p.Val254Met) rs35214605
NM_004813.4(PEX16):c.778C>A (p.Leu260Met)
NM_004813.4(PEX16):c.783T>A (p.Ser261Arg)
NM_004813.4(PEX16):c.784G>A (p.Asp262Asn) rs2134692005
NM_004813.4(PEX16):c.805A>G (p.Arg269Gly) rs1202074085
NM_004813.4(PEX16):c.805_813dup (p.268RRE[3]) rs746516702
NM_004813.4(PEX16):c.810G>T (p.Glu270Asp)
NM_004813.4(PEX16):c.815G>A (p.Arg272Gln) rs780754678
NM_004813.4(PEX16):c.821T>C (p.Leu274Pro) rs2134691868
NM_004813.4(PEX16):c.824G>A (p.Arg275Gln) rs1383363053
NM_004813.4(PEX16):c.826C>T (p.Arg276Cys) rs762568886
NM_004813.4(PEX16):c.827G>A (p.Arg276His) rs1420647698
NM_004813.4(PEX16):c.829C>T (p.Arg277Trp)
NM_004813.4(PEX16):c.830G>T (p.Arg277Leu)
NM_004813.4(PEX16):c.861C>T (p.Arg287=) rs747883612
NM_004813.4(PEX16):c.865C>G (p.Pro289Ala)
NM_004813.4(PEX16):c.86T>G (p.Val29Gly) rs2134699660
NM_004813.4(PEX16):c.873_874delinsCT (p.Asp292Tyr)
NM_004813.4(PEX16):c.873_874inv (p.Asp292Asn)
NM_004813.4(PEX16):c.877C>A (p.Arg293Ser) rs544053792
NM_004813.4(PEX16):c.878G>A (p.Arg293His)
NM_004813.4(PEX16):c.887A>G (p.Glu296Gly) rs2134691628
NM_004813.4(PEX16):c.888-3C>A
NM_004813.4(PEX16):c.912G>C (p.Gln304His)
NM_004813.4(PEX16):c.918G>C (p.Leu306=) rs753109224
NM_004813.4(PEX16):c.919G>A (p.Ala307Thr)
NM_004813.4(PEX16):c.922G>A (p.Asp308Asn) rs749785179
NM_004813.4(PEX16):c.922G>C (p.Asp308His) rs749785179
NM_004813.4(PEX16):c.923A>T (p.Asp308Val)
NM_004813.4(PEX16):c.928G>A (p.Val310Ile) rs771392114
NM_004813.4(PEX16):c.935G>T (p.Gly312Val)
NM_004813.4(PEX16):c.941G>C (p.Gly314Ala)
NM_004813.4(PEX16):c.952+3A>C rs2134686616
NM_004813.4(PEX16):c.952+3A>G
NM_004813.4(PEX16):c.952+6C>T
NM_004813.4(PEX16):c.953-5T>A
NM_004813.4(PEX16):c.956C>T (p.Pro319Leu)
NM_004813.4(PEX16):c.960_961del (p.Met321fs) rs2134685523
NM_004813.4(PEX16):c.961A>G (p.Met321Val)
NM_004813.4(PEX16):c.98G>C (p.Ser33Thr)
NM_004813.4(PEX16):c.994_999del (p.Phe332_Tyr333del)
NM_004813.4(PEX16):c.997T>C (p.Tyr333His)
NM_006214.3(PHYH):c.-78G>T rs886046832
NM_006214.4(PHYH):c.*253G>T rs550905616
NM_006214.4(PHYH):c.*434A>G rs1835323896
NM_006214.4(PHYH):c.*499C>T rs953706106
NM_006214.4(PHYH):c.-20G>C rs546291238
NM_006214.4(PHYH):c.176A>C (p.Lys59Thr) rs886046831
NM_006214.4(PHYH):c.1_24dup (p.Met1_Ala8dup) rs1554785878
NM_006214.4(PHYH):c.244C>T (p.Arg82Trp) rs145404396
NM_006214.4(PHYH):c.321G>T (p.Ser107=) rs115198308
NM_006214.4(PHYH):c.621_623del (p.Val208del) rs755838466
NM_006214.4(PHYH):c.626T>G (p.Leu209Arg)
NM_006214.4(PHYH):c.679-11T>A rs886046828
NM_006214.4(PHYH):c.679G>T (p.Gly227Trp) rs201936962
NM_006214.4(PHYH):c.739C>T (p.His247Tyr) rs1835475877
NM_006214.4(PHYH):c.828+4A>T rs1835471952
NM_006214.4(PHYH):c.93A>C (p.Ser31=) rs202198596
NM_012062.5(DNM1L):c.1048G>A (p.Gly350Arg) rs879255689
NM_012062.5(DNM1L):c.1289G>A (p.Arg430His) rs2137523963
NM_012062.5(DNM1L):c.1325T>A (p.Ile442Asn)
NM_012062.5(DNM1L):c.1736A>G (p.Asp579Gly)
NM_012062.5(DNM1L):c.1822A>C (p.Lys608Gln) rs1592688400
NM_012062.5(DNM1L):c.1915C>T (p.Arg639Trp) rs1011225865
NM_012062.5(DNM1L):c.1916G>A (p.Arg639Gln)
NM_012062.5(DNM1L):c.2035A>C (p.Lys679Gln) rs2137611567
NM_012062.5(DNM1L):c.2155-20T>A
NM_012062.5(DNM1L):c.346_347del (p.Glu116fs) rs879255687
NM_012062.5(DNM1L):c.456G>T (p.Lys152Asn)
NM_012062.5(DNM1L):c.505C>T (p.Leu169Phe) rs1953210856
NM_012062.5(DNM1L):c.571A>G (p.Met191Val)
NM_012062.5(DNM1L):c.770G>C (p.Ser257Thr)
NM_014236.4(GNPAT):c.*129C>T rs1685755752
NM_014236.4(GNPAT):c.*195C>T rs780763661
NM_014236.4(GNPAT):c.*2A>C rs149641223
NM_014236.4(GNPAT):c.-121C>T rs573141457
NM_014236.4(GNPAT):c.-54A>G rs886046088
NM_014236.4(GNPAT):c.1030C>T (p.Arg344Trp) rs886046090
NM_014236.4(GNPAT):c.1336G>T (p.Ala446Ser)
NM_014236.4(GNPAT):c.1424T>C (p.Leu475Pro) rs886046091
NM_014236.4(GNPAT):c.1502T>A (p.Met501Lys)
NM_014236.4(GNPAT):c.1522+15T>C rs200561922
NM_014236.4(GNPAT):c.1603-3T>G
NM_014236.4(GNPAT):c.1668C>T (p.Ile556=) rs1685638665
NM_014236.4(GNPAT):c.1678G>A (p.Glu560Lys) rs1685639021
NM_014236.4(GNPAT):c.1680G>A (p.Glu560=) rs886046093
NM_014236.4(GNPAT):c.2010del (p.Pro671fs)
NM_014236.4(GNPAT):c.2023C>T (p.Pro675Ser) rs749833026
NM_014236.4(GNPAT):c.278T>G (p.Leu93Arg) rs886046089
NM_014236.4(GNPAT):c.289G>A (p.Asp97Asn) rs1558331190
NM_014236.4(GNPAT):c.476T>C (p.Leu159Pro) rs865813028
NM_014236.4(GNPAT):c.569-3T>G rs745869264
NM_014324.6(AMACR):c.*1178G>A rs886060527
NM_014324.6(AMACR):c.*1764A>C rs1383745386
NM_014324.6(AMACR):c.*1985G>A rs971469605
NM_014324.6(AMACR):c.*2093A>G rs886060521
NM_014324.6(AMACR):c.*439A>G rs533094975
NM_014324.6(AMACR):c.*573dup rs886060528
NM_014324.6(AMACR):c.*805C>A rs367582757
NM_014324.6(AMACR):c.1003C>T (p.Pro335Ser)
NM_014324.6(AMACR):c.1027G>T (p.Asp343Tyr)
NM_014324.6(AMACR):c.1036A>G (p.Ile346Val)
NM_014324.6(AMACR):c.1040dup (p.Glu348fs) rs1255254263
NM_014324.6(AMACR):c.1070T>C (p.Phe357Ser)
NM_014324.6(AMACR):c.1081C>T (p.Arg361Cys)
NM_014324.6(AMACR):c.1097A>G (p.Gln366Arg) rs773780297
NM_014324.6(AMACR):c.109C>A (p.Pro37Thr) rs199734111
NM_014324.6(AMACR):c.1108G>C (p.Asp370His)
NM_014324.6(AMACR):c.1109A>G (p.Asp370Gly) rs2112032028
NM_014324.6(AMACR):c.1114A>G (p.Ile372Val)
NM_014324.6(AMACR):c.1126A>T (p.Asn376Tyr)
NM_014324.6(AMACR):c.116C>T (p.Ser39Phe) rs2112078262
NM_014324.6(AMACR):c.119G>C (p.Arg40Pro)
NM_014324.6(AMACR):c.124G>A (p.Asp42Asn)
NM_014324.6(AMACR):c.127_128delinsAG (p.Val43Arg) rs1554006390
NM_014324.6(AMACR):c.137T>G (p.Leu46Trp) rs1396372839
NM_014324.6(AMACR):c.139G>T (p.Gly47Cys) rs2112078140
NM_014324.6(AMACR):c.13G>A (p.Gly5Ser) rs1192420459
NM_014324.6(AMACR):c.143G>T (p.Arg48Leu)
NM_014324.6(AMACR):c.149A>G (p.Lys50Arg)
NM_014324.6(AMACR):c.152G>T (p.Arg51Leu)
NM_014324.6(AMACR):c.160G>C (p.Val54Leu)
NM_014324.6(AMACR):c.179C>T (p.Pro60Leu)
NM_014324.6(AMACR):c.184G>T (p.Gly62Ter) rs891858540
NM_014324.6(AMACR):c.187G>A (p.Ala63Thr)
NM_014324.6(AMACR):c.193G>A (p.Val65Met) rs1306513083
NM_014324.6(AMACR):c.19T>A (p.Ser7Thr)
NM_014324.6(AMACR):c.200G>T (p.Arg67Leu)
NM_014324.6(AMACR):c.203G>T (p.Arg68Leu) rs2112077728
NM_014324.6(AMACR):c.206T>C (p.Leu69Pro) rs915168123
NM_014324.6(AMACR):c.20C>T (p.Ser7Leu)
NM_014324.6(AMACR):c.223G>C (p.Val75Leu)
NM_014324.6(AMACR):c.253A>G (p.Met85Val) rs746627394
NM_014324.6(AMACR):c.255G>A (p.Met85Ile)
NM_014324.6(AMACR):c.255_263del (p.Met85_Leu88delinsIle)
NM_014324.6(AMACR):c.275del (p.Pro92fs)
NM_014324.6(AMACR):c.27G>A (p.Val9=) rs780679627
NM_014324.6(AMACR):c.283C>G (p.Leu95Val) rs2112072698
NM_014324.6(AMACR):c.289C>A (p.Arg97=) rs757072374
NM_014324.6(AMACR):c.289C>T (p.Arg97Trp) rs757072374
NM_014324.6(AMACR):c.290G>C (p.Arg97Pro) rs139273474
NM_014324.6(AMACR):c.30G>T (p.Glu10Asp)
NM_014324.6(AMACR):c.31C>G (p.Leu11Val) rs1032174171
NM_014324.6(AMACR):c.323G>C (p.Ser108Thr)
NM_014324.6(AMACR):c.342_362del (p.Ser115_Gly121del)
NM_014324.6(AMACR):c.343A>G (p.Ser115Gly)
NM_014324.6(AMACR):c.352C>T (p.Arg118Trp)
NM_014324.6(AMACR):c.361_362delinsTT (p.Gly121Phe)
NM_014324.6(AMACR):c.370A>G (p.Ile124Val) rs1477299437
NM_014324.6(AMACR):c.37G>C (p.Gly13Arg)
NM_014324.6(AMACR):c.38G>T (p.Gly13Val)
NM_014324.6(AMACR):c.391+3A>G rs1753952875
NM_014324.6(AMACR):c.391+4T>A
NM_014324.6(AMACR):c.394G>A (p.Val132Ile)
NM_014324.6(AMACR):c.419G>A (p.Gly140Asp) rs2112070079
NM_014324.6(AMACR):c.421G>A (p.Glu141Lys) rs2112070061
NM_014324.6(AMACR):c.422A>C (p.Glu141Ala) rs2112070052
NM_014324.6(AMACR):c.437C>T (p.Pro146Leu)
NM_014324.6(AMACR):c.43G>A (p.Ala15Thr)
NM_014324.6(AMACR):c.43G>C (p.Ala15Pro)
NM_014324.6(AMACR):c.43del (p.Ala15fs)
NM_014324.6(AMACR):c.476T>C (p.Met159Thr)
NM_014324.6(AMACR):c.496A>G (p.Met166Val)
NM_014324.6(AMACR):c.4G>A (p.Ala2Thr)
NM_014324.6(AMACR):c.506T>C (p.Phe169Ser)
NM_014324.6(AMACR):c.517C>T (p.Arg173Cys)
NM_014324.6(AMACR):c.538A>G (p.Ile180Val)
NM_014324.6(AMACR):c.544G>A (p.Ala182Thr) rs2112069628
NM_014324.6(AMACR):c.547A>G (p.Asn183Asp) rs2112069615
NM_014324.6(AMACR):c.552+3A>T
NM_014324.6(AMACR):c.552+4A>T
NM_014324.6(AMACR):c.553-1G>A
NM_014324.6(AMACR):c.553-5C>A rs1753722683
NM_014324.6(AMACR):c.563C>G (p.Thr188Arg)
NM_014324.6(AMACR):c.566C>T (p.Ala189Val)
NM_014324.6(AMACR):c.572T>A (p.Leu191Ter) rs2112054992
NM_014324.6(AMACR):c.580T>C (p.Phe194Leu) rs2112054973
NM_014324.6(AMACR):c.602T>G (p.Leu201Trp) rs2287939
NM_014324.6(AMACR):c.604A>T (p.Ser202Cys)
NM_014324.6(AMACR):c.616G>A (p.Ala206Thr)
NM_014324.6(AMACR):c.61G>T (p.Ala21Ser) rs2112078509
NM_014324.6(AMACR):c.623G>A (p.Arg208Gln) rs975712828
NM_014324.6(AMACR):c.632A>C (p.Asn211Thr)
NM_014324.6(AMACR):c.689T>A (p.Phe230Tyr)
NM_014324.6(AMACR):c.698T>C (p.Val233Ala) rs76184600
NM_014324.6(AMACR):c.713C>T (p.Pro238Leu) rs778295213
NM_014324.6(AMACR):c.722A>G (p.Tyr241Cys)
NM_014324.6(AMACR):c.728T>G (p.Leu243Arg) rs2112054267
NM_014324.6(AMACR):c.737A>G (p.Lys246Arg) rs2112054224
NM_014324.6(AMACR):c.739+3A>C
NM_014324.6(AMACR):c.740-2del rs2112033441
NM_014324.6(AMACR):c.740-3C>T
NM_014324.6(AMACR):c.740-5C>G rs770927461
NM_014324.6(AMACR):c.740-8_740-6delinsGGA rs2112033482
NM_014324.6(AMACR):c.755C>T (p.Ser252Phe)
NM_014324.6(AMACR):c.774G>C (p.Gln258His) rs1753409460
NM_014324.6(AMACR):c.775A>G (p.Met259Val) rs2112033298
NM_014324.6(AMACR):c.779G>A (p.Ser260Asn)
NM_014324.6(AMACR):c.781A>T (p.Met261Leu) rs878852990
NM_014324.6(AMACR):c.793C>A (p.Pro265Thr) rs2112033195
NM_014324.6(AMACR):c.803A>C (p.Lys268Thr)
NM_014324.6(AMACR):c.803A>T (p.Lys268Met) rs151086469
NM_014324.6(AMACR):c.818A>C (p.Asp273Ala)
NM_014324.6(AMACR):c.820G>A (p.Val274Ile) rs769669689
NM_014324.6(AMACR):c.846G>T (p.Glu282Asp)
NM_014324.6(AMACR):c.849G>A (p.Trp283Ter) rs2112032937
NM_014324.6(AMACR):c.856A>G (p.Ile286Val)
NM_014324.6(AMACR):c.884C>T (p.Thr295Ile) rs2112032792
NM_014324.6(AMACR):c.889G>A (p.Val297Ile) rs886060530
NM_014324.6(AMACR):c.89G>A (p.Arg30His) rs1370754918
NM_014324.6(AMACR):c.908_909delinsAG (p.Val303Glu) rs2112032750
NM_014324.6(AMACR):c.913C>T (p.His305Tyr)
NM_014324.6(AMACR):c.914A>T (p.His305Leu)
NM_014324.6(AMACR):c.937G>A (p.Gly313Ser) rs886060529
NM_014324.6(AMACR):c.941C>G (p.Ser314Trp)
NM_014324.6(AMACR):c.941C>T (p.Ser314Leu) rs747129541
NM_014324.6(AMACR):c.945T>G (p.Phe315Leu)
NM_014324.6(AMACR):c.94G>A (p.Val32Ile) rs762048386
NM_014324.6(AMACR):c.961C>G (p.Gln321Glu)
NM_014324.6(AMACR):c.967G>A (p.Val323Met)
NM_014324.6(AMACR):c.967G>T (p.Val323Leu)
NM_014324.6(AMACR):c.976dup (p.Arg326fs) rs1266524888
NM_014324.6(AMACR):c.998_999insACAA (p.Asn333fs)
NM_015294.6(TRIM37):c.*1029A>G rs1005760604
NM_015294.6(TRIM37):c.*1060C>G rs2033211003
NM_015294.6(TRIM37):c.*118G>T rs748610821
NM_015294.6(TRIM37):c.-228C>G rs886053179
NM_015294.6(TRIM37):c.-334C>G rs886053182
NM_015294.6(TRIM37):c.-335T>A rs886053183
NM_015294.6(TRIM37):c.-389G>T rs886053184
NM_015294.6(TRIM37):c.1020-10dup
NM_015294.6(TRIM37):c.1152C>T (p.Leu384=) rs199714666
NM_015294.6(TRIM37):c.1200-5T>C rs1326036403
NM_015294.6(TRIM37):c.1315-3A>G
NM_015294.6(TRIM37):c.1667+9C>T rs2039956432
NM_015294.6(TRIM37):c.1870del (p.Asp624fs) rs1568027916
NM_015294.6(TRIM37):c.2002G>A (p.Val668Met)
NM_015294.6(TRIM37):c.2036A>C (p.Lys679Thr) rs1568017495
NM_015294.6(TRIM37):c.2047G>A (p.Ala683Thr)
NM_015294.6(TRIM37):c.2243G>A (p.Cys748Tyr) rs2037467316
NM_015294.6(TRIM37):c.2487G>T (p.Gln829His) rs886053176
NM_015294.6(TRIM37):c.2676T>G (p.Ala892=) rs886053175
NM_015294.6(TRIM37):c.2695+11A>G rs1215977068
NM_015294.6(TRIM37):c.2754T>C (p.His918=) rs746826852
NM_015294.6(TRIM37):c.2824A>C (p.Ser942Arg)
NM_015294.6(TRIM37):c.296A>G (p.His99Arg)
NM_015294.6(TRIM37):c.369+8G>C rs2043537419
NM_015294.6(TRIM37):c.398C>G (p.Ala133Gly) rs61758100
NM_015294.6(TRIM37):c.586C>T (p.Gln196Ter) rs1568191596
NM_015294.6(TRIM37):c.745C>T (p.Gln249Ter) rs386834005
NM_015294.6(TRIM37):c.796C>T (p.Pro266Ser) rs2042299241
NM_015294.6(TRIM37):c.810-13dup rs367700401
NM_015294.6(TRIM37):c.810-3del rs367700401
NM_015294.6(TRIM37):c.828C>T (p.Tyr276=) rs776019614
NM_015294.6(TRIM37):c.934G>A (p.Val312Ile) rs2041587108
NM_015294.6(TRIM37):c.943-7_943-5del rs886053177
NM_017929.5(PEX26):c.-164G>T rs1926353199
NM_017929.5(PEX26):c.-207T>C rs905580400
NM_018131.5(CEP55):c.910A>T (p.Ile304Leu) rs765188763
NM_019088.4(PAF1):c.1445C>T (p.Ser482Leu)
NM_032228.6(FAR1):c.286G>A (p.Glu96Lys) rs12793516
NM_032228.6(FAR1):c.58G>A (p.Gly20Ser) rs1405931040
NM_145798.3(OSBPL7):c.1078G>A (p.Asp360Asn) rs1016471339

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