ClinVar Miner

List of variants reported as uncertain significance for peroxisomal disease by Illumina Laboratory Services, Illumina

Included ClinVar conditions (82):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1343
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HGVS dbSNP gnomAD frequency
NM_003659.4(AGPS):c.*1866_*1867del rs761041008 0.11055
NM_001127649.3(PEX26):c.*1627G>T rs1056492732 0.01991
NM_015294.6(TRIM37):c.*977del rs112918162 0.01009
NM_006214.4(PHYH):c.734G>A (p.Arg245Gln) rs62619919 0.00690
NM_002617.4(PEX10):c.-52_-51del rs570192538 0.00605
NM_003659.4(AGPS):c.*3971A>G rs150179488 0.00605
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_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_004035.7(ACOX1):c.*2625T>C rs570538901 0.00396
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_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_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_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_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_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_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_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_003630.3(PEX3):c.165A>G (p.Gln55=) rs41285015 0.00090
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_001127649.3(PEX26):c.*2195A>G rs565621911 0.00074
NM_003659.4(AGPS):c.*921A>G rs555058166 0.00072
NM_014324.6(AMACR):c.*714T>C rs143877467 0.00072
NM_004035.7(ACOX1):c.*3345C>A rs745760931 0.00071
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_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_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_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_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_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_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_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_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_002618.4(PEX13):c.*446A>G rs554737021 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_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_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_000287.4(PEX6):c.1670A>G (p.Asn557Ser) rs138621982 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_000466.3(PEX1):c.1360-7C>T rs371890000 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_004035.7(ACOX1):c.*1014A>G rs573099492 0.00029
NM_004035.7(ACOX1):c.*2699C>G rs983903623 0.00029
NM_000466.3(PEX1):c.3031G>A (p.Val1011Met) rs141650598 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_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_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_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_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_000286.3(PEX12):c.*923G>A rs576761038 0.00022
NM_000466.3(PEX1):c.1725G>A (p.Leu575=) rs150667796 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_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_000414.3(HSD17B4):c.-130C>T rs536737707 0.00020
NM_004035.7(ACOX1):c.*2688C>T rs550555029 0.00020
NM_015294.6(TRIM37):c.*622T>C rs886053172 0.00020
NM_000288.4(PEX7):c.188+3A>G rs200234391 0.00019
NM_000414.4(HSD17B4):c.1929G>A (p.Val643=) rs148189286 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_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_000466.3(PEX1):c.3281A>G (p.Asp1094Gly) rs539784253 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_002618.4(PEX13):c.*3126A>G rs745626475 0.00017
NM_002618.4(PEX13):c.856G>A (p.Val286Ile) rs201699810 0.00017
NM_000030.3(AGXT):c.524+6C>A rs770992934 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.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_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_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_000318.3(PEX2):c.*1854A>C rs886063127 0.00014
NM_000466.3(PEX1):c.3250A>G (p.Met1084Val) rs781277635 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_002617.4(PEX10):c.*627C>T rs886046142 0.00014
NM_002617.4(PEX10):c.275G>A (p.Arg92His) rs375649043 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_000288.3(PEX7):c.-91G>A rs772358439 0.00013
NM_000318.3(PEX2):c.*595C>T rs754113775 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_004035.7(ACOX1):c.*2736G>A rs563182345 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_000318.3(PEX2):c.*2519G>A rs1005895700 0.00012
NM_000318.3(PEX2):c.*596G>A rs139852334 0.00012
NM_001127649.3(PEX26):c.*2308A>T rs775281083 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_000318.3(PEX2):c.*40G>A rs148915806 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.2954G>A (p.Arg985His) rs202057449 0.00011
NM_001127649.3(PEX26):c.571C>T (p.Arg191Trp) rs150451390 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.966+3G>A rs373763823 0.00011
NM_002617.4(PEX10):c.268C>T (p.Leu90=) rs775772867 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_000286.3(PEX12):c.-147C>T rs559905700 0.00010
NM_001351132.2(PEX5):c.1653C>G (p.Leu551=) rs200215904 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_004813.4(PEX16):c.*557G>C rs770223341 0.00010
NM_014324.6(AMACR):c.*523C>T rs575264685 0.00010
NM_015294.6(TRIM37):c.-296G>T rs886053181 0.00010
NM_000318.3(PEX2):c.*1755A>G rs886063129 0.00009
NM_000318.3(PEX2):c.*2973T>C rs751974703 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_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.338T>C (p.Leu113Pro) rs202077756 0.00009
NM_003659.4(AGPS):c.*1865C>T rs62182698 0.00009
NM_003659.4(AGPS):c.*560T>A rs867873949 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_004813.4(PEX16):c.946G>A (p.Val316Ile) rs775371916 0.00009
NM_000030.3(AGXT):c.567C>T (p.Gly189=) rs373612587 0.00008
NM_000286.3(PEX12):c.*38C>T rs756694664 0.00008
NM_000318.3(PEX2):c.*627G>T rs145960090 0.00008
NM_000414.4(HSD17B4):c.994C>T (p.Leu332Phe) rs370579120 0.00008
NM_000466.3(PEX1):c.3637-14T>C rs745612436 0.00008
NM_002857.4(PEX19):c.*1145C>T rs75916849 0.00008
NM_002857.4(PEX19):c.*1163T>C rs575199724 0.00008
NM_003659.4(AGPS):c.*1238T>C rs899137263 0.00008
NM_003659.4(AGPS):c.1475+12A>G rs375684020 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_006214.4(PHYH):c.*25C>T rs760780410 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.1914C>T (p.Asp638=) rs199723613 0.00007
NM_000286.3(PEX12):c.41C>A (p.Ala14Asp) rs193253559 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_002617.4(PEX10):c.*732G>A rs886046140 0.00007
NM_002617.4(PEX10):c.*835C>T rs886046136 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_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.214A>C (p.Asn72His) rs754637713 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_000288.4(PEX7):c.340-10A>G rs267608255 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.622+5G>A rs536487449 0.00006
NM_000466.3(PEX1):c.1042A>G (p.Thr348Ala) rs371309198 0.00006
NM_000466.3(PEX1):c.2057A>G (p.Gln686Arg) rs201016626 0.00006
NM_000466.3(PEX1):c.2842C>T (p.Arg948Trp) rs374167385 0.00006
NM_000466.3(PEX1):c.2927-12T>A rs375062546 0.00006
NM_001127649.3(PEX26):c.*122A>C rs753279674 0.00006
NM_001127649.3(PEX26):c.*2479G>A rs537299090 0.00006
NM_001351132.2(PEX5):c.*722G>A rs886049831 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.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.821C>T (p.Thr274Ile) rs199683357 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_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_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.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_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_015294.6(TRIM37):c.2544G>A (p.Ala848=) rs532325984 0.00006
NM_000287.4(PEX6):c.1387A>G (p.Thr463Ala) rs182308788 0.00005
NM_000287.4(PEX6):c.1877G>A (p.Arg626Gln) rs79351868 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.1357C>T (p.Leu453Phe) rs372898042 0.00005
NM_000414.4(HSD17B4):c.1566T>A (p.Ser522Arg) rs184492796 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_001127649.3(PEX26):c.*1618G>C rs1358815707 0.00005
NM_001351132.2(PEX5):c.967-15G>A rs201341037 0.00005
NM_002617.4(PEX10):c.711C>T (p.Tyr237=) rs761005209 0.00005
NM_002618.4(PEX13):c.*170C>G rs77041272 0.00005
NM_002857.4(PEX19):c.*1103C>T rs561417695 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_006214.4(PHYH):c.*417A>G rs1302015884 0.00005
NM_014324.6(AMACR):c.*1931G>C rs563332854 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.930C>T (p.Phe310=) rs886055842 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_000287.3(PEX6):c.-39G>A rs76974379 0.00004
NM_000287.4(PEX6):c.2642G>A (p.Arg881His) rs751377690 0.00004
NM_000287.4(PEX6):c.2736G>A (p.Ala912=) rs202049230 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.804-5C>T rs369653173 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_000414.4(HSD17B4):c.1131C>T (p.Phe377=) rs200347945 0.00004
NM_000414.4(HSD17B4):c.230A>G (p.Glu77Gly) rs769358132 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.952G>A (p.Asp318Asn) rs754893068 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_001351132.2(PEX5):c.-16-149A>G rs1355750608 0.00004
NM_001351132.2(PEX5):c.1033C>T (p.Arg345Cys) rs199822160 0.00004
NM_002617.4(PEX10):c.*499G>A rs886046143 0.00004
NM_002617.4(PEX10):c.271C>T (p.Arg91Cys) rs747921371 0.00004
NM_002618.4(PEX13):c.*2550G>A rs544817238 0.00004
NM_002618.4(PEX13):c.*3038A>T rs886056211 0.00004
NM_002857.4(PEX19):c.*662C>T rs773981843 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_004565.3(PEX14):c.297C>T (p.Tyr99=) rs371473184 0.00004
NM_004565.3(PEX14):c.860C>T (p.Thr287Met) rs376758920 0.00004
NM_004813.4(PEX16):c.616C>G (p.Leu206Val) rs375515674 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.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_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_000286.3(PEX12):c.*433T>C rs886052829 0.00003
NM_000286.3(PEX12):c.-405C>G rs886052834 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.1234-10C>T rs370661410 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.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_000414.4(HSD17B4):c.*235T>C rs553631151 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_000466.3(PEX1):c.1913A>C (p.Glu638Ala) rs775544654 0.00003
NM_000466.3(PEX1):c.3165A>G (p.Gln1055=) rs776231556 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.1876C>T (p.Arg626Trp) rs148040746 0.00003
NM_001351132.2(PEX5):c.317-6T>C rs755945291 0.00003
NM_001351132.2(PEX5):c.551+15C>T rs886049825 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.280G>A (p.Val94Met) rs142626035 0.00003
NM_002617.4(PEX10):c.601-75G>A rs369211467 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.199A>C (p.Ser67Arg) rs752073595 0.00003
NM_002618.4(PEX13):c.269A>G (p.Tyr90Cys) rs200928725 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_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_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.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.118C>T (p.Arg40Trp) rs770183471 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_014236.4(GNPAT):c.-153A>C rs537119013 0.00003
NM_014324.6(AMACR):c.*1853G>A rs886060522 0.00003
NM_014324.6(AMACR):c.1001C>T (p.Thr334Ile) rs368693738 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_000286.3(PEX12):c.*39G>A rs751033919 0.00002
NM_000286.3(PEX12):c.349A>G (p.Ile117Val) rs767207001 0.00002
NM_000414.4(HSD17B4):c.1213C>T (p.Leu405Phe) rs746616691 0.00002
NM_000414.4(HSD17B4):c.268T>C (p.Phe90Leu) rs28943588 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.2072C>T (p.Ala691Val) rs150351763 0.00002
NM_000466.3(PEX1):c.2455C>T (p.Arg819Cys) rs983157165 0.00002
NM_000466.3(PEX1):c.3566C>T (p.Thr1189Ile) rs749324355 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.153C>A (p.Phe51Leu) rs777633990 0.00002
NM_001127649.3(PEX26):c.208G>T (p.Val70Leu) rs766581207 0.00002
NM_001127649.3(PEX26):c.709C>T (p.Arg237Cys) rs575612663 0.00002
NM_001351132.2(PEX5):c.1607A>G (p.Asn536Ser) rs749417845 0.00002
NM_001351132.2(PEX5):c.909T>C (p.Ala303=) rs376649488 0.00002
NM_002617.4(PEX10):c.*905A>C rs1316891759 0.00002
NM_002617.4(PEX10):c.865G>A (p.Gly289Ser) rs556603981 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.1136C>T (p.Ser379Phe) rs758388660 0.00002
NM_002618.4(PEX13):c.260A>G (p.Asn87Ser) rs367843599 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_003630.3(PEX3):c.96T>C (p.Tyr32=) rs201718910 0.00002
NM_003659.4(AGPS):c.*513T>C rs886055172 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.510G>A (p.Val170=) rs752375436 0.00002
NM_004565.3(PEX14):c.1128G>C (p.Arg376=) rs772300180 0.00002
NM_004813.4(PEX16):c.149-13C>G rs369471815 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_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.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_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.40C>T (p.Leu14=) rs2058975287 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.901C>T (p.Arg301Cys) rs886055841 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_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.856G>A (p.Val286Ile) rs766182813 0.00001
NM_000287.3(PEX6):c.-71C>G rs886061414 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.1365A>G (p.Pro455=) rs759402659 0.00001
NM_000287.4(PEX6):c.1367+10G>A rs776610051 0.00001
NM_000287.4(PEX6):c.1931G>A (p.Arg644Gln) rs746117128 0.00001
NM_000287.4(PEX6):c.2547C>T (p.Asn849=) rs1171568759 0.00001
NM_000287.4(PEX6):c.2877A>G (p.Gln959=) rs562040179 0.00001
NM_000288.4(PEX7):c.-28G>A rs376808803 0.00001
NM_000288.4(PEX7):c.496C>T (p.His166Tyr) rs1219430310 0.00001
NM_000288.4(PEX7):c.554T>C (p.Val185Ala) rs1424846175 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.843A>G (p.Thr281=) rs767903764 0.00001
NM_000288.4(PEX7):c.961A>G (p.Ile321Val) rs879706210 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.-178C>T rs886063141 0.00001
NM_000318.3(PEX2):c.456T>G (p.Ile152Met) rs1475014070 0.00001
NM_000318.3(PEX2):c.524C>G (p.Ser175Cys) rs770427885 0.00001
NM_000414.4(HSD17B4):c.*123A>G rs956800775 0.00001
NM_000414.4(HSD17B4):c.1263A>G (p.Gly421=) rs764406724 0.00001
NM_000414.4(HSD17B4):c.1596T>C (p.His532=) rs758045328 0.00001
NM_000414.4(HSD17B4):c.1854+7T>C rs886059822 0.00001
NM_000414.4(HSD17B4):c.1934A>C (p.Lys645Thr) rs368915056 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.811G>A (p.Ala271Thr) rs543710228 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.1671-13A>G rs757960956 0.00001
NM_000466.3(PEX1):c.1945T>G (p.Ser649Ala) rs1251466114 0.00001
NM_000466.3(PEX1):c.2363T>C (p.Val788Ala) rs886062505 0.00001
NM_000466.3(PEX1):c.2408C>T (p.Thr803Ile) rs750911436 0.00001
NM_000466.3(PEX1):c.2767C>T (p.Arg923Trp) rs780992963 0.00001
NM_000466.3(PEX1):c.2927-8T>C rs778618662 0.00001
NM_000466.3(PEX1):c.3195G>A (p.Ser1065=) rs768417678 0.00001
NM_000466.3(PEX1):c.3543A>G (p.Ser1181=) rs374673391 0.00001
NM_000466.3(PEX1):c.3642C>T (p.Asp1214=) rs777384403 0.00001
NM_000466.3(PEX1):c.724G>A (p.Val242Ile) rs764044654 0.00001
NM_000466.3(PEX1):c.830A>G (p.Gln277Arg) rs886062506 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.554C>T (p.Ala185Val) rs370147115 0.00001
NM_001127649.3(PEX26):c.889C>T (p.Arg297Cys) rs780701336 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.1111-12A>G rs371599161 0.00001
NM_001351132.2(PEX5):c.1347G>C (p.Gly449=) rs778715159 0.00001
NM_001351132.2(PEX5):c.1545C>T (p.Leu515=) rs762815657 0.00001
NM_001351132.2(PEX5):c.1737T>C (p.Phe579=) rs753159772 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.194-5C>T rs375032738 0.00001
NM_002617.4(PEX10):c.488C>T (p.Ala163Val) rs750507518 0.00001
NM_002617.4(PEX10):c.601-18G>C rs149822209 0.00001
NM_002617.4(PEX10):c.977G>A (p.Arg326His) rs140890506 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.1070A>G (p.Asn357Ser) rs144300539 0.00001
NM_002618.4(PEX13):c.1158G>A (p.Lys386=) rs371789976 0.00001
NM_002618.4(PEX13):c.581G>A (p.Arg194Gln) rs761487103 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.432+2T>C rs757078881 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.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.1908T>C (p.Phe636=) rs765895661 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.1541T>C (p.Val514Ala) rs776575018 0.00001
NM_004035.7(ACOX1):c.1556C>T (p.Thr519Ile) rs758791373 0.00001
NM_004035.7(ACOX1):c.1821T>C (p.Val607=) rs762221413 0.00001
NM_004035.7(ACOX1):c.408T>C (p.Tyr136=) rs779313800 0.00001
NM_004035.7(ACOX1):c.659-4G>A rs746563980 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_004565.3(PEX14):c.*256A>G rs373498478 0.00001
NM_004565.3(PEX14):c.*459T>C rs954625667 0.00001
NM_004565.3(PEX14):c.233C>T (p.Ser78Leu) rs778315559 0.00001
NM_004565.3(PEX14):c.516C>T (p.Ser172=) rs543843635 0.00001
NM_004565.3(PEX14):c.888G>T (p.Gln296His) rs1358510161 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.197G>A (p.Arg66Gln) rs143737124 0.00001
NM_004813.4(PEX16):c.730A>C (p.Lys244Gln) rs2086807349 0.00001
NM_004813.4(PEX16):c.812G>A (p.Arg271Gln) rs769838583 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.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.1051G>A (p.Glu351Lys) rs761488582 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.366C>T (p.His122=) rs775128044 0.00001
NM_014324.6(AMACR):c.48G>A (p.Pro16=) rs144271819 0.00001
NM_014324.6(AMACR):c.710A>G (p.Glu237Gly) rs553965377 0.00001
NM_014324.6(AMACR):c.841G>C (p.Ala281Pro) rs371707295 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_153818.1(PEX10):c.-77G>T rs1257096968 0.00001
NM_000030.3(AGXT):c.*162A>G rs886055844
NM_000030.3(AGXT):c.*194A>T rs2059043450
NM_000030.3(AGXT):c.1046G>A (p.Gly349Asp) rs2059038329
NM_000030.3(AGXT):c.1065G>C (p.Thr355=) rs143488099
NM_000030.3(AGXT):c.165+12G>C rs201989825
NM_000030.3(AGXT):c.174C>A (p.Asp58Glu) rs761756536
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.491A>T (p.Gln164Leu) rs528938116
NM_000030.3(AGXT):c.524+3G>A rs886055839
NM_000030.3(AGXT):c.950G>A (p.Arg317Gln) rs200317876
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.*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.1092C>G (p.Ala364=) rs782250326
NM_000033.4(ABCD1):c.1428C>T (p.Cys476=) rs141446687
NM_000033.4(ABCD1):c.22C>A (p.Arg8=) rs2091702555
NM_000033.4(ABCD1):c.900+7C>T rs2091712393
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.-340G>T rs886052833
NM_000286.3(PEX12):c.-360G>A rs2072800546
NM_000286.3(PEX12):c.353T>C (p.Met118Thr) rs879075660
NM_000287.4(PEX6):c.*368G>A rs866465109
NM_000287.4(PEX6):c.*407T>G rs886061409
NM_000287.4(PEX6):c.106C>A (p.Leu36Met) rs758416830
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.1415C>T (p.Pro472Leu) rs1769951744
NM_000287.4(PEX6):c.235G>A (p.Ala79Thr) rs61752141
NM_000287.4(PEX6):c.2471+5G>T rs1213308057
NM_000287.4(PEX6):c.2601G>T (p.Leu867=) rs1769712635
NM_000287.4(PEX6):c.2697A>G (p.Val899=) rs892510772
NM_000287.4(PEX6):c.2907G>C (p.Arg969=) rs145243129
NM_000287.4(PEX6):c.302C>G (p.Pro101Arg) rs774813175
NM_000287.4(PEX6):c.410G>C (p.Arg137Pro) rs1254025750
NM_000287.4(PEX6):c.49C>A (p.Pro17Thr) rs918969564
NM_000287.4(PEX6):c.681G>A (p.Gln227=) rs1770406319
NM_000287.4(PEX6):c.718G>A (p.Ala240Thr) rs886061412
NM_000287.4(PEX6):c.76G>C (p.Gly26Arg) rs1268867658
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.-69C>A rs528948146
NM_000288.4(PEX7):c.130+11G>T rs886061119
NM_000288.4(PEX7):c.130+13C>A rs886061120
NM_000288.4(PEX7):c.316G>C (p.Val106Leu) rs886061121
NM_000288.4(PEX7):c.797C>T (p.Thr266Ile) rs1452611618
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.116A>G (p.Gln39Arg) rs1427212561
NM_000318.3(PEX2):c.152G>T (p.Arg51Leu) rs549242503
NM_000414.4(HSD17B4):c.-75C>A rs26180
NM_000414.4(HSD17B4):c.161C>A (p.Ala54Asp) rs141517981
NM_000414.4(HSD17B4):c.1683T>C (p.Ala561=) rs1239645507
NM_000414.4(HSD17B4):c.388G>A (p.Val130Met) rs1748692405
NM_000414.4(HSD17B4):c.643C>A (p.Pro215Thr) rs552078818
NM_000414.4(HSD17B4):c.718G>A (p.Gly240Arg) rs886059821
NM_000414.4(HSD17B4):c.844G>C (p.Ala282Pro) rs1750354958
NM_000414.4(HSD17B4):c.951G>A (p.Thr317=) rs779198396
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.129+10C>T rs886062508
NM_000466.3(PEX1):c.1380A>C (p.Glu460Asp) rs565049190
NM_000466.3(PEX1):c.1729C>A (p.Arg577Ser) rs200991412
NM_000466.3(PEX1):c.1804-12A>G rs143041528
NM_000466.3(PEX1):c.1829_1830del (p.Lys610fs) rs1562857333
NM_000466.3(PEX1):c.1901-14T>C rs1792111444
NM_000466.3(PEX1):c.2306T>C (p.Leu769Pro) rs767182250
NM_000466.3(PEX1):c.2584-10del rs5885806
NM_000466.3(PEX1):c.2584-11_2584-10del rs5885806
NM_000466.3(PEX1):c.2912T>C (p.Val971Ala) rs745667444
NM_000466.3(PEX1):c.2995C>A (p.Leu999Ile) rs1791529840
NM_000466.3(PEX1):c.3030+12A>G rs1163936793
NM_000466.3(PEX1):c.3161C>T (p.Ala1054Val) rs886062503
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.3627C>T (p.Ser1209=) rs886062501
NM_000466.3(PEX1):c.468A>G (p.Gln156=) rs149729088
NM_000466.3(PEX1):c.578A>G (p.Asp193Gly) rs886062507
NM_000466.3(PEX1):c.96G>A (p.Pro32=) rs1445565547
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.134T>C (p.Leu45Pro) rs61752132
NM_001127649.3(PEX26):c.230+8C>T rs886057245
NM_001127649.3(PEX26):c.625G>T (p.Glu209Ter) rs886057246
NM_001127649.3(PEX26):c.814+15C>T rs1926797835
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.1395-14T>C rs1945174737
NM_001351132.2(PEX5):c.1413G>C (p.Val471=) rs115760878
NM_001351132.2(PEX5):c.1647C>G (p.Leu549=) rs753512677
NM_001351132.2(PEX5):c.1850G>C (p.Ser617Thr) rs751637149
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.533G>A (p.Gly178Glu) rs749729761
NM_001351132.2(PEX5):c.643-5C>T rs886049826
NM_001351132.2(PEX5):c.708C>T (p.Gly236=) rs778009052
NM_001351132.2(PEX5):c.730G>T (p.Ala244Ser) rs1944190059
NM_001351132.2(PEX5):c.88C>T (p.Leu30Phe) rs1940821861
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.443A>G (p.His148Arg) rs1643086674
NM_002617.4(PEX10):c.521T>A (p.Leu174His) rs1333143056
NM_002617.4(PEX10):c.551del (p.Ile184fs) rs1557910202
NM_002617.4(PEX10):c.604C>A (p.Arg202Ser) rs149615608
NM_002617.4(PEX10):c.768T>A (p.Ser256=) rs368439785
NM_002617.4(PEX10):c.899G>T (p.Trp300Leu) rs1643006514
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.193A>G (p.Ser65Gly) rs886056196
NM_002618.4(PEX13):c.26C>G (p.Pro9Arg) rs764069625
NM_002618.4(PEX13):c.32C>A (p.Pro11His) rs564528921
NM_002618.4(PEX13):c.32C>T (p.Pro11Leu) rs564528921
NM_002618.4(PEX13):c.417A>G (p.Ala139=) rs886056197
NM_002618.4(PEX13):c.89T>C (p.Phe30Ser) rs771610641
NM_002618.4(PEX13):c.980C>T (p.Pro327Leu) rs1680745521
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>T (p.Pro39Ser) rs144256391
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.181-4G>T rs747572423
NM_002857.4(PEX19):c.630A>C (p.Leu210=) rs202174805
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.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.1597C>A (p.Pro533Thr) rs886055167
NM_003659.4(AGPS):c.1762A>G (p.Ile588Val) rs886055168
NM_003659.4(AGPS):c.451A>T (p.Asn151Tyr) rs886055164
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_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.1406_1408del (p.Ala469del) rs886053457
NM_004035.7(ACOX1):c.1468C>T (p.Arg490Cys) rs143601596
NM_004035.7(ACOX1):c.1479-12A>G rs2065755060
NM_004035.7(ACOX1):c.1561G>T (p.Val521Phe) rs775115439
NM_004035.7(ACOX1):c.16C>A (p.Arg6Ser) rs141670654
NM_004035.7(ACOX1):c.1866C>A (p.Gly622=) rs886053456
NM_004035.7(ACOX1):c.208A>G (p.Met70Val) rs2066081272
NM_004035.7(ACOX1):c.270-8C>G rs751892262
NM_004035.7(ACOX1):c.460G>T (p.Ala154Ser) rs145324538
NM_004035.7(ACOX1):c.658+4A>G rs886053458
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.626T>C (p.Ile209Thr) rs758355392
NM_004565.3(PEX14):c.861G>T (p.Thr287=) rs371329619
NM_004565.3(PEX14):c.883C>T (p.Pro295Ser) rs886045017
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.348C>T (p.Val116=) rs886048328
NM_004813.4(PEX16):c.454C>A (p.Pro152Thr) rs1357832796
NM_004813.4(PEX16):c.540C>G (p.Asn180Lys) rs886048327
NM_004813.4(PEX16):c.628C>T (p.Pro210Ser) rs754114296
NM_004813.4(PEX16):c.672C>T (p.Tyr224=) rs746173483
NM_004813.4(PEX16):c.706G>C (p.Gly236Arg) rs757071504
NM_004813.4(PEX16):c.861C>T (p.Arg287=) rs747883612
NM_004813.4(PEX16):c.918G>C (p.Leu306=) rs753109224
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.321G>T (p.Ser107=) rs115198308
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_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.1424T>C (p.Leu475Pro) rs886046091
NM_014236.4(GNPAT):c.1522+15T>C rs200561922
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.2023C>T (p.Pro675Ser) rs749833026
NM_014236.4(GNPAT):c.278T>G (p.Leu93Arg) rs886046089
NM_014236.4(GNPAT):c.476T>C (p.Leu159Pro) rs865813028
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.27G>A (p.Val9=) rs780679627
NM_014324.6(AMACR):c.289C>A (p.Arg97=) rs757072374
NM_014324.6(AMACR):c.553-5C>A rs1753722683
NM_014324.6(AMACR):c.740-5C>G rs770927461
NM_014324.6(AMACR):c.889G>A (p.Val297Ile) rs886060530
NM_014324.6(AMACR):c.937G>A (p.Gly313Ser) rs886060529
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.1152C>T (p.Leu384=) rs199714666
NM_015294.6(TRIM37):c.1200-5T>C rs1326036403
NM_015294.6(TRIM37):c.1667+9C>T rs2039956432
NM_015294.6(TRIM37):c.1870del (p.Asp624fs) rs1568027916
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.369+8G>C rs2043537419
NM_015294.6(TRIM37):c.398C>G (p.Ala133Gly) rs61758100
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.943-7_943-5del rs886053177
NM_017929.5(PEX26):c.-164G>T rs1926353199
NM_017929.5(PEX26):c.-207T>C rs905580400

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