ClinVar Miner

List of variants studied for hereditary peripheral neuropathy by Illumina Laboratory Services, Illumina

Included ClinVar conditions (479):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8880
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HGVS dbSNP gnomAD frequency
NM_001303.3(COX10):c.-112G>A rs6502330 0.99477
NM_018972.4(GDAP1):c.*797A>G rs7007283 0.99395
NM_001127649.3(PEX26):c.*2281T>C rs362209 0.99208
NM_001130823.3(DNMT1):c.1782A>G (p.Thr594=) rs721186 0.99062
NM_001370298.3(FGD4):c.*4991A>G rs1239830 0.98871
NM_002618.4(PEX13):c.*358G>A rs1177230 0.98833
NM_000318.3(PEX2):c.*1194A>G rs4311633 0.98172
NM_024577.4(SH3TC2):c.1587T>G (p.Arg529=) rs1432794 0.97933
NM_024577.4(SH3TC2):c.*3136G>A rs1019927 0.97931
NM_020312.4(COQ9):c.*490T>C rs223870 0.97315
NM_002495.4(NDUFS4):c.198A>C (p.Gly66=) rs31304 0.96579
NM_181882.3(PRX):c.3394G>A (p.Gly1132Arg) rs268674 0.95976
NM_000153.4(GALC):c.1698A>T (p.Val566=) rs421466 0.95773
NM_000153.4(GALC):c.1834+5C>G rs448805 0.95475
NM_004863.4(SPTLC2):c.*3612T>A rs2364160 0.95467
NM_000153.4(GALC):c.*989G>A rs370559 0.95463
NM_000153.4(GALC):c.1921A>G (p.Thr641Ala) rs421262 0.95462
NM_000153.4(GALC):c.*627A>G rs413750 0.95456
NM_004863.4(SPTLC2):c.*4645A>G rs10132095 0.95264
NM_000318.3(PEX2):c.*2377A>G rs4388434 0.94963
NM_000318.3(PEX2):c.*727T>C rs4610720 0.94956
NM_012073.5(CCT5):c.*1172G>T rs2578638 0.93037
NM_000466.3(PEX1):c.2331C>A (p.Gly777=) rs10278857 0.93013
NM_001113491.2(SEPTIN9):c.1726A>G (p.Met576Val) rs2627223 0.89112
NM_001127649.3(PEX26):c.*2051A>G rs361946 0.88398
NM_001127649.3(PEX26):c.*987T>C rs361807 0.88380
NM_030962.4(SBF2):c.4571-6C>T rs2645029 0.88084
NM_000520.6(HEXA):c.1306A>G (p.Ile436Val) rs1800431 0.87890
NM_000520.6(HEXA):c.1518A>G (p.Glu506=) rs4777502 0.87885
NM_000466.3(PEX1):c.358-15G>A rs38809 0.86650
NM_001605.3(AARS1):c.2715T>C (p.Val905=) rs4081753 0.85676
NM_000286.3(PEX12):c.-428T>C rs321600 0.84193
NM_078470.6(COX15):c.*1126T>C rs2231687 0.83974
NM_004376.5(COX15):c.*3566C>T rs2300983 0.83937
NM_006096.4(NDRG1):c.*956T>C rs1049697 0.83830
NM_004863.4(SPTLC2):c.*4673_*4674insTG rs58831828 0.83371
NM_004863.4(SPTLC2):c.786T>C (p.Asn262=) rs2364602 0.83233
NM_000274.3(OAT):c.-94T>G rs4144117 0.82728
NM_000274.4(OAT):c.648+14A>G rs9422807 0.81973
NM_003630.3(PEX3):c.*319A>T rs223234 0.81061
NM_003477.3(PDHX):c.*644C>A rs7808 0.80809
NM_002495.4(NDUFS4):c.312A>G (p.Arg104=) rs31303 0.79100
NM_004813.4(PEX16):c.873T>C (p.Tyr291=) rs1132349 0.79011
NM_003477.3(PDHX):c.63C>T (p.Pro21=) rs2956109 0.78720
NM_003477.2(PDHX):c.-302A>G rs2956112 0.78475
NM_000487.6(ARSA):c.*919A>G rs5770805 0.78412
NM_006158.5(NEFL):c.*1256G>A rs2979704 0.77789
NM_024577.4(SH3TC2):c.*15823T>C rs4562031 0.77381
NM_022124.6(CDH23):c.*349A>G rs1867978 0.77194
NM_024577.4(SH3TC2):c.*19919T>C rs2217638 0.77125
NM_024577.4(SH3TC2):c.*18554G>T rs10040598 0.76741
NM_015046.7(SETX):c.3576T>G (p.Asp1192Glu) rs1185193 0.76694
NM_002180.3(IGHMBP2):c.602T>C (p.Leu201Ser) rs560096 0.76511
NM_006329.4(FBLN5):c.945T>C (p.Ile315=) rs2430347 0.76291
NM_002180.3(IGHMBP2):c.57T>C (p.Leu19=) rs1249463 0.76080
NM_024577.4(SH3TC2):c.*16950T>C rs10040798 0.76017
NM_002180.3(IGHMBP2):c.*255T>C rs564244 0.75917
NM_015046.7(SETX):c.1077T>C (p.Tyr359=) rs9411449 0.75774
NM_000217.3(KCNA1):c.1440T>A (p.Thr480=) rs4766309 0.75219
NM_004863.4(SPTLC2):c.*3524A>C rs1063270 0.75189
NM_001005373.4(LRSAM1):c.952A>G (p.Asn318Asp) rs1539567 0.75123
NM_004168.4(SDHA):c.891T>C (p.Pro297=) rs1126417 0.74998
NM_001005373.4(LRSAM1):c.1912+5A>C rs2248822 0.74956
NM_012073.5(CCT5):c.*593A>G rs2578640 0.74295
NM_004863.4(SPTLC2):c.*3637G>A rs1063271 0.74276
NM_012073.5(CCT5):c.426T>C (p.Arg142=) rs1042392 0.74241
NM_012073.5(CCT5):c.-23G>A rs2548546 0.74239
NM_002617.4(PEX10):c.291A>G (p.Thr97=) rs2494598 0.74152
NM_004863.4(SPTLC2):c.*2302A>G rs11159269 0.73771
NM_012073.5(CCT5):c.*67A>G rs544 0.73487
NM_012073.5(CCT5):c.*181C>T rs699113 0.73464
NM_012073.5(CCT5):c.*567G>A rs2607286 0.73457
NM_012073.5(CCT5):c.198A>G (p.Gly66=) rs2578617 0.73455
NM_012073.5(CCT5):c.1317+10C>A rs2578642 0.73429
NM_012073.5(CCT5):c.*383A>G rs2662533 0.73426
NM_012073.5(CCT5):c.-10T>C rs2578618 0.73426
NM_000520.6(HEXA):c.*589T>G rs11629508 0.73205
NM_000520.6(HEXA):c.*515G>A rs3087652 0.73188
NM_000925.4(PDHB):c.*296C>G rs7231 0.72833
NM_001034850.3(RETREG1):c.816C>T (p.Asp272=) rs162848 0.71313
NM_012073.5(CCT5):c.*824C>G rs2578639 0.71210
NM_014874.4(MFN2):c.*58A>G rs1042842 0.71104
NM_004544.4(NDUFA10):c.105A>G (p.Lys35=) rs2083411 0.70392
NM_001365536.1(SCN9A):c.444A>G (p.Pro148=) rs9646771 0.70187
NM_002047.4(GARS1):c.124C>G (p.Pro42Ala) rs1049402 0.70073
NM_133259.4(LRPPRC):c.246G>A (p.Gln82=) rs6741066 0.69341
NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg) rs1183768 0.68476
NM_015046.7(SETX):c.4156A>G (p.Ile1386Val) rs543573 0.68049
NM_174889.4(NDUFAF2):c.-97A>G rs158922 0.66969
NM_000108.5(DLD):c.*487C>T rs4518 0.66588
NM_000108.5(DLD):c.*978T>C rs2158835 0.66205
NM_000108.5(DLD):c.*1451T>C rs2108223 0.66202
NM_000108.5(DLD):c.439-7T>C rs10263341 0.66181
NM_002618.4(PEX13):c.*2147A>G rs2564097 0.66023
NM_002495.4(NDUFS4):c.12G>C (p.Val4=) rs2279516 0.65985
NM_000108.5(DLD):c.*207G>A rs4564 0.65906
NM_006096.4(NDRG1):c.64-6T>C rs2272653 0.65276
NM_002291.3(LAMB1):c.5225-7C>T rs3213673 0.64814
NM_003477.3(PDHX):c.*486G>T rs9326 0.64744
NM_001365536.1(SCN9A):c.174G>A (p.Gln58=) rs6432901 0.64588
NM_006308.3(HSPB3):c.369T>C (p.Gly123=) rs7823 0.63826
NM_133259.4(LRPPRC):c.*1665C>T rs1139250 0.63748
NM_005138.3(SCO2):c.633A>C (p.Ala211=) rs12148 0.63421
NM_030962.4(SBF2):c.*1364C>T rs10118 0.63186
NM_174889.5(NDUFAF2):c.60G>A (p.Lys20=) rs158921 0.63042
NM_001195248.2(APTX):c.484-13G>T rs10123944 0.62521
NM_022041.4(GAN):c.*472C>G rs1816122 0.61663
NM_001005373.4(LRSAM1):c.249C>T (p.Ile83=) rs2243906 0.61095
NM_000183.2(HADHB):c.-201G>A rs3806516 0.60985
NM_057174.2(PEX16):c.*434G>A rs2280329 0.60761
NM_021625.5(TRPV4):c.670A>C (p.Arg224=) rs3825394 0.60669
NM_022041.4(GAN):c.*592T>A rs1345895 0.59860
NM_003477.3(PDHX):c.858T>C (p.Val286=) rs497582 0.59662
NM_004544.4(NDUFA10):c.*3450G>A rs7573892 0.59554
NM_001386140.1(MTTP):c.*1046C>G rs1061271 0.59509
NM_000370.3(TTPA):c.663+11T>C rs4501570 0.59337
NM_024577.4(SH3TC2):c.*17703A>G rs4235739 0.59322
NM_000370.3(TTPA):c.*1093G>A rs4587328 0.59276
NM_003477.2(PDHX):c.-88C>A rs2956110 0.59089
NM_181882.3(PRX):c.2645T>C (p.Val882Ala) rs268671 0.59048
NM_024577.4(SH3TC2):c.*16020A>C rs4543254 0.57641
NM_022041.4(GAN):c.*247G>A rs2216769 0.57491
NM_181882.3(PRX):c.2655T>C (p.Pro885=) rs268672 0.56968
NM_000304.4(PMP22):c.*59A>C rs13422 0.56905
NM_000287.4(PEX6):c.2814G>A (p.Glu938=) rs1129186 0.56758
NM_001365536.1(SCN9A):c.1287T>A (p.Arg429=) rs6747673 0.56670
NM_001365536.1(SCN9A):c.2105-14C>T rs6432893 0.56480
NM_001303.4(COX10):c.699A>G (p.Pro233=) rs2230354 0.55696
NM_005908.4(MANBA):c.*384C>T rs4019 0.55353
NM_005908.4(MANBA):c.*401G>A rs4013 0.55336
NM_004544.4(NDUFA10):c.*1957G>A rs4854069 0.55325
NM_005908.4(MANBA):c.2368T>C (p.Leu790=) rs2272697 0.55313
NM_005908.4(MANBA):c.*124T>C rs3194585 0.55297
NM_005908.4(MANBA):c.*161C>T rs1054029 0.55296
NM_000521.4(HEXB):c.-126C>T rs71627068 0.55186
NM_000521.4(HEXB):c.-122del rs70976124 0.55177
NM_014874.4(MFN2):c.*896G>C rs3088064 0.55119
NM_001113491.2(SEPTIN9):c.*1720T>C rs445507 0.54935
NM_004376.6(COX15):c.-597A>C rs2281636 0.54611
NM_004376.6(COX15):c.-435C>T rs2231675 0.54408
NM_001042472.2(ABHD12):c.-220G>A rs3827014 0.54397
NM_004863.4(SPTLC2):c.*4446G>T rs11159268 0.54169
NM_005908.4(MANBA):c.*505G>A rs1054037 0.54146
NM_002529.4(NTRK1):c.1887C>T (p.Ala629=) rs6337 0.53946
NM_001113491.2(SEPTIN9):c.*325T>C rs448203 0.53926
NM_015074.3(KIF1B):c.*5019T>C rs3748581 0.53815
NM_006158.5(NEFL):c.*687G>C rs2976439 0.53745
NM_006308.3(HSPB3):c.282G>A (p.Leu94=) rs7699 0.53709
NM_006158.4(NEFL):c.-176C>A rs2979688 0.53692
NM_001303.4(COX10):c.504G>A (p.Leu168=) rs2159132 0.53492
NM_004813.4(PEX16):c.*303C>T rs10838529 0.53226
NM_014874.3(MFN2):c.-212T>C rs2180183 0.53102
NM_005006.7(NDUFS1):c.*336G>T rs1044120 0.52989
NM_024577.4(SH3TC2):c.*11390A>G rs3213854 0.52790
NM_024577.4(SH3TC2):c.*3077C>T rs1045942 0.52772
NM_024577.4(SH3TC2):c.*5490G>A rs1432795 0.52698
NM_033305.3(VPS13A):c.*1024C>T rs9186 0.52644
NM_014874.3(MFN2):c.-367A>G rs2236054 0.52635
NM_001127649.3(PEX26):c.*1265T>A rs456551 0.52154
NM_024407.5(NDUFS7):c.68C>T (p.Pro23Leu) rs1142530 0.52046
NM_001127649.3(PEX26):c.*167G>A rs464385 0.52045
NM_005138.3(SCO2):c.-78G>C rs131806 0.51847
NM_000370.3(TTPA):c.*1487G>A rs6472068 0.51778
NM_001370298.3(FGD4):c.*4438A>G rs11052124 0.51721
NM_001953.5(TYMP):c.972C>T (p.Ala324=) rs131804 0.51130
NM_024577.4(SH3TC2):c.*19040A>G rs930205 0.51121
NM_000288.4(PEX7):c.*306T>G rs1050803 0.51106
NM_003630.3(PEX3):c.942-13A>G rs161058 0.51037
NM_024577.4(SH3TC2):c.*19573G>A rs4560536 0.51021
NM_001130823.3(DNMT1):c.1389A>G (p.Pro463=) rs2228611 0.50821
NM_001130823.3(DNMT1):c.1832+14A>G rs2114724 0.50605
NM_000318.3(PEX2):c.*2663T>A rs28435921 0.50526
NM_000217.3(KCNA1):c.804G>C (p.Thr268=) rs2227910 0.50318
NM_001113491.2(SEPTIN9):c.*40A>T rs11537705 0.50158
NM_000153.4(GALC):c.*723G>A rs412915 0.49978
NM_000153.4(GALC):c.*626C>T rs432946 0.49976
NM_000153.4(GALC):c.*1453A>G rs405567 0.49973
NM_000153.4(GALC):c.1685T>C (p.Ile562Thr) rs398607 0.49946
NM_000217.3(KCNA1):c.*1681T>C rs7974459 0.49866
NM_001605.3(AARS1):c.903C>T (p.His301=) rs2070203 0.49332
NM_014845.6(FIG4):c.1948+3A>G rs10499054 0.49269
NM_024577.4(SH3TC2):c.*7292C>T rs1347130 0.49144
NM_024577.4(SH3TC2):c.*14766T>A rs891919 0.49105
NM_000158.4(GBE1):c.-28G>T rs368460254 0.48974
NM_001370298.3(FGD4):c.*5198G>A rs1133509 0.48969
NM_001303.4(COX10):c.476G>A (p.Arg159Gln) rs2072279 0.48875
NM_024577.4(SH3TC2):c.1194T>C (p.Gly398=) rs1432793 0.48793
NM_000217.3(KCNA1):c.*406C>T rs4766311 0.48547
NM_002047.4(GARS1):c.2095-6C>T rs2240401 0.48477
NM_000487.6(ARSA):c.1178C>G (p.Thr393Ser) rs743616 0.48362
NM_000217.3(KCNA1):c.*3062T>C rs10849174 0.47680
NM_001386140.1(MTTP):c.453T>C (p.Gly151=) rs991811 0.47516
NM_001386140.1(MTTP):c.891C>G (p.His297Gln) rs2306985 0.47212
NM_001113491.2(SEPTIN9):c.*657T>C rs9038 0.47153
NM_000217.3(KCNA1):c.684T>C (p.Cys228=) rs1048500 0.46819
NM_004589.4(SCO1):c.*722C>G rs7512 0.46449
NM_000217.3(KCNA1):c.*1927A>T rs7974559 0.45881
NM_000153.4(GALC):c.*590T>C rs1042029 0.45472
NM_000153.4(GALC):c.*1186_*1188del rs141199615 0.45391
NM_001370298.3(FGD4):c.*3770G>T rs11052123 0.45391
NM_000217.3(KCNA1):c.*9G>A rs4766310 0.45248
NM_001042472.3(ABHD12):c.1068T>C (p.Asp356=) rs10966 0.45223
NM_020247.5(COQ8A):c.1660-9T>C rs7552783 0.45219
NM_024577.4(SH3TC2):c.*16631G>A rs4705303 0.45194
NM_001113491.2(SEPTIN9):c.*6A>G rs1059485 0.45123
NM_000153.4(GALC):c.*1275G>A rs1042042 0.45032
NM_000153.4(GALC):c.1671-15C>T rs12432149 0.45011
NM_000153.4(GALC):c.*1588T>G rs17198 0.44979
NM_002857.4(PEX19):c.*2156C>G rs10594 0.44938
NM_015046.7(SETX):c.7759A>G (p.Ile2587Val) rs1056899 0.44536
NM_001042472.3(ABHD12):c.*148C>T rs1046073 0.44458
NM_001042472.3(ABHD12):c.*297C>G rs11100 0.44435
NM_001351132.2(PEX5):c.*755C>G rs1057225 0.44145
NM_001005373.4(LRSAM1):c.904-9C>T rs1539568 0.43695
NM_001365536.1(SCN9A):c.*2640G>A rs13396526 0.43246
NM_001042472.3(ABHD12):c.837C>T (p.Arg279=) rs6107027 0.42961
NM_001723.7(DST):c.6031G>C (p.Val2011Leu) rs6459166 0.42446
NM_002495.4(NDUFS4):c.*46G>A rs567 0.42121
NM_020247.5(COQ8A):c.1716T>C (p.Ser572=) rs3738725 0.42035
NM_000081.4(LYST):c.1251A>G (p.Gln417=) rs1063128 0.41864
NM_000081.4(LYST):c.1683A>G (p.Leu561=) rs3820553 0.41844
NM_000081.4(LYST):c.4956A>G (p.Leu1652=) rs6696123 0.41826
NM_000081.4(LYST):c.5373G>A (p.Lys1791=) rs2273584 0.41769
NM_022041.4(GAN):c.*967G>A rs12920236 0.41705
NM_000487.6(ARSA):c.*682G>C rs7288338 0.41670
NM_000487.6(ARSA):c.*855G>A rs7288050 0.41126
NM_001723.7(DST):c.4074G>A (p.Lys1358=) rs2230862 0.40815
NM_000287.3(PEX6):c.-55C>T rs9462859 0.40581
NM_000287.4(PEX6):c.399G>T (p.Val133=) rs9462858 0.40569
NM_000287.4(PEX6):c.2816C>A (p.Pro939Gln) rs1129187 0.40479
NM_033305.3(VPS13A):c.9069A>G (p.Gly3023=) rs3737289 0.40290
NM_000153.4(GALC):c.1350C>T (p.Ser450=) rs398076 0.39907
NM_005908.4(MANBA):c.757G>A (p.Val253Ile) rs227368 0.39095
NM_004544.4(NDUFA10):c.771A>G (p.Gln257=) rs13848 0.38961
NM_001365536.1(SCN9A):c.1266A>G (p.Glu422=) rs13402180 0.38348
NM_001365536.1(SCN9A):c.1119T>C (p.Ala373=) rs13414203 0.38341
NM_000286.3(PEX12):c.*517A>G rs1046321 0.37640
NM_001042472.3(ABHD12):c.*83G>A rs2424708 0.37241
NM_001034850.3(RETREG1):c.*1012G>A rs26016 0.37107
NM_001136472.2(LITAF):c.*1251A>G rs7102 0.36899
NM_000286.3(PEX12):c.*836G>C rs10068 0.36472
NM_003477.2(PDHX):c.-272G>A rs2956111 0.36407
NM_181882.3(PRX):c.2763A>G (p.Ile921Met) rs268673 0.36279
NM_000287.4(PEX6):c.883-3T>C rs9986447 0.36088
NM_002506.3(NGF):c.104C>T (p.Ala35Val) rs6330 0.36049
NM_000158.4(GBE1):c.*176G>A rs846 0.35837
NM_014845.6(FIG4):c.*120C>T rs1127775 0.35612
NM_021830.5(TWNK):c.-605G>T rs3740484 0.35155
NM_001370298.3(FGD4):c.*1492T>G rs7980205 0.34985
NM_001370298.3(FGD4):c.*1133A>C rs10844268 0.34951
NM_005006.7(NDUFS1):c.1251A>G (p.Arg417=) rs1801318 0.34874
NM_024577.4(SH3TC2):c.*3196T>C rs3763022 0.34686
NM_014845.6(FIG4):c.2559G>A (p.Ser853=) rs1127771 0.34581
NM_014365.3(HSPB8):c.*644A>G rs11038 0.34575
NM_002778.4(PSAP):c.1351-14A>G rs4747203 0.34512
NM_003477.2(PDHX):c.-390G>A rs2956114 0.34353
NM_002778.4(PSAP):c.*891G>A rs7869 0.34207
NM_014845.6(FIG4):c.1961T>C (p.Val654Ala) rs9885672 0.33924
NM_030962.4(SBF2):c.*514C>T rs3829252 0.33836
NM_030962.4(SBF2):c.*1515G>A rs1045634 0.33744
NM_000274.4(OAT):c.1134C>T (p.Asn378=) rs11461 0.33660
NM_006096.4(NDRG1):c.*691G>A rs1049694 0.32591
NM_001370298.3(FGD4):c.*1454A>G rs7964947 0.31826
NM_015046.7(SETX):c.5563A>G (p.Thr1855Ala) rs2296871 0.31596
NM_015046.7(SETX):c.5811T>C (p.Asp1937=) rs2296869 0.31585
NM_000108.5(DLD):c.*18A>T rs8721 0.31455
NM_024577.4(SH3TC2):c.*929G>C rs1432798 0.31381
NM_000108.5(DLD):c.*1688G>A rs8440 0.31157
NM_020247.5(COQ8A):c.*464G>A rs8159 0.31059
NM_030962.4(SBF2):c.*40A>C rs3751000 0.30738
NM_004544.4(NDUFA10):c.*1189C>T rs66534347 0.30437
NM_018972.4(GDAP1):c.*1855A>G rs6472842 0.30274
NM_033305.3(VPS13A):c.*1378C>A rs13286867 0.30192
NM_001005361.3(DNM2):c.2139T>C (p.Ala713=) rs2229920 0.30148
NM_000925.4(PDHB):c.438G>A (p.Gly146=) rs1126551 0.30058
NM_001376.5(DYNC1H1):c.13080T>C (p.Thr4360=) rs13749 0.29982
NM_000153.4(GALC):c.984G>A (p.Gln328=) rs12888666 0.29819
NM_001034850.3(RETREG1):c.*206A>C rs32147 0.29733
NM_000158.4(GBE1):c.568A>G (p.Arg190Gly) rs2229519 0.29724
NM_001376.5(DYNC1H1):c.13372+9G>A rs1004903 0.29622
NM_000925.4(PDHB):c.*243A>C rs1126722 0.29583
NM_000487.6(ARSA):c.*635G>A rs5770953 0.29302
NM_002618.4(PEX13):c.*952C>T rs56739127 0.29127
NM_020631.6(PLEKHG5):c.713C>G (p.Thr238Ser) rs61741379 0.28900
NM_021830.5(TWNK):c.*766A>T rs3740488 0.28823
NM_021830.5(TWNK):c.1593-5C>T rs3740485 0.28642
NM_021830.5(TWNK):c.1593-3T>C rs3740486 0.28631
NM_000284.4(PDHA1):c.795A>G (p.Ala265=) rs1126565 0.28594
NM_004544.4(NDUFA10):c.*414G>A rs13424612 0.28510
NM_004544.4(NDUFA10):c.*3204C>T rs34277046 0.28460
NM_016156.6(MTMR2):c.1131C>T (p.Thr377=) rs566204 0.28363
NM_000925.4(PDHB):c.*353T>C rs1126735 0.28091
NM_016156.6(MTMR2):c.*1419G>A rs496305 0.27825
NM_016156.6(MTMR2):c.*1934T>C rs525404 0.27753
NM_016156.6(MTMR2):c.*1568C>T rs596277 0.27751
NM_016156.6(MTMR2):c.*549G>A rs611020 0.27729
NM_002617.4(PEX10):c.*173G>A rs1129171 0.27656
NM_016156.6(MTMR2):c.8A>C (p.Lys3Thr) rs3824874 0.27654
NM_078470.6(COX15):c.*2649G>A rs1128642 0.27557
NM_001370298.3(FGD4):c.1716G>A (p.Arg572=) rs10844253 0.27488
NM_020631.6(PLEKHG5):c.2001T>C (p.Ser667=) rs730600 0.27319
NM_018972.4(GDAP1):c.507T>G (p.Ser169=) rs11554166 0.27295
NM_020631.6(PLEKHG5):c.*290T>C rs14708 0.27269
NM_018972.4(GDAP1):c.*2214A>G rs10504580 0.26909
NM_004168.4(SDHA):c.1932G>A (p.Val644=) rs6961 0.26598
NM_006329.4(FBLN5):c.-414C>T rs7149187 0.26340
NM_000487.6(ARSA):c.*1522C>A rs6009939 0.26325
NM_001303.4(COX10):c.*1385C>T rs1050223 0.26244
NM_004168.4(SDHA):c.1038C>G (p.Ser346=) rs1041949 0.26134
NM_001386140.1(MTTP):c.383T>C (p.Ile128Thr) rs3816873 0.26064
NM_000253.3(MTTP):c.-241G>A rs11944752 0.26041
NM_004565.3(PEX14):c.156C>T (p.Phe52=) rs12375 0.25602
NM_018319.4(TDP1):c.-230-14C>A rs28365055 0.25524
NM_018319.4(TDP1):c.291A>G (p.Gln97=) rs3825663 0.25304
NM_001370298.3(FGD4):c.1929G>A (p.Ala643=) rs11052110 0.25239
NM_004168.4(SDHA):c.619A>C (p.Arg207=) rs6555055 0.25190
NM_004168.4(SDHA):c.1752A>G (p.Ala584=) rs13070 0.25187
NM_004168.4(SDHA):c.684T>C (p.Asn228=) rs2115272 0.25174
NM_004168.4(SDHA):c.309A>G (p.Ala103=) rs1139424 0.25161
NM_004168.3(SDHA):c.-115T>C rs2303741 0.25160
NM_004168.4(SDHA):c.1680G>A (p.Thr560=) rs1139449 0.25156
NM_004168.4(SDHA):c.1886A>T (p.Tyr629Phe) rs6960 0.24550
NM_002977.3(SCN9A):c.-307G>T rs1881440 0.24356
NM_024577.4(SH3TC2):c.*8111A>C rs17109205 0.24306
NM_015046.7(SETX):c.5781+12dup rs3831154 0.24271
NM_002180.3(IGHMBP2):c.2011A>G (p.Thr671Ala) rs622082 0.24183
NM_002180.3(IGHMBP2):c.2316C>T (p.Ser772=) rs546382 0.24174
NM_170707.4(LMNA):c.1338T>C (p.Asp446=) rs505058 0.23806
NM_024577.4(SH3TC2):c.*1909G>T rs998304 0.23360
NM_024577.4(SH3TC2):c.*1639T>C rs1007400 0.23355
NM_001303.4(COX10):c.*1078C>T rs13183 0.23332
NM_001303.4(COX10):c.*297G>A rs8076247 0.23328
NM_024577.4(SH3TC2):c.*5799C>T rs17109208 0.23286
NM_000284.4(PDHA1):c.*1394C>T rs55856360 0.22991
NM_000284.4(PDHA1):c.760-15C>A rs7058209 0.22904
NM_002180.3(IGHMBP2):c.*681T>C rs9095 0.22873
NM_024577.4(SH3TC2):c.*14562G>A rs17109198 0.22872
NM_000284.4(PDHA1):c.*1059G>A rs15816 0.22867
NM_024577.4(SH3TC2):c.*14856C>A rs891920 0.22858
NM_000284.4(PDHA1):c.*844A>G rs1042453 0.22833
NM_000284.4(PDHA1):c.*728C>T rs1042452 0.22767
NM_000284.4(PDHA1):c.*319G>T rs1042449 0.22677
NM_012073.5(CCT5):c.*382C>T rs2578641 0.22645
NM_000284.4(PDHA1):c.*322G>A rs1042450 0.22629
NM_020631.6(PLEKHG5):c.-88+5G>A rs3007429 0.22575
NM_024577.4(SH3TC2):c.*2956C>T rs3763020 0.22548
NM_024577.4(SH3TC2):c.*8248G>C rs56309414 0.22436
NM_002180.3(IGHMBP2):c.2636C>A (p.Thr879Lys) rs17612126 0.22387
NM_024577.4(SH3TC2):c.1402G>T (p.Ala468Ser) rs6875902 0.22262
NM_000925.4(PDHB):c.*99C>T rs7230 0.22245
NM_002180.3(IGHMBP2):c.*427C>T rs3750980 0.22234
NM_000925.4(PDHB):c.*356A>G rs1126737 0.22224
NM_003477.2(PDHX):c.-129C>T rs112032820 0.22090
NM_003477.3(PDHX):c.301A>G (p.Thr101Ala) rs11539202 0.21800
NM_000318.3(PEX2):c.-164C>A rs12718 0.21609
NM_000217.3(KCNA1):c.*4439C>T rs12424292 0.21574
NM_022041.4(GAN):c.1293C>T (p.Tyr431=) rs2608555 0.21491
NM_000284.4(PDHA1):c.*1377G>A rs56039350 0.20892
NM_000521.4(HEXB):c.362A>G (p.Lys121Arg) rs11556045 0.20835
NM_170707.4(LMNA):c.1698C>T (p.His566=) rs4641 0.20715
NM_002180.3(IGHMBP2):c.2080C>T (p.Arg694Trp) rs2236654 0.20662
NM_002180.3(IGHMBP2):c.1554C>T (p.Val518=) rs11228413 0.20651
NM_000304.4(PMP22):c.*577T>C rs7538 0.20549
NM_000286.3(PEX12):c.*166C>A rs1037590 0.20532
NM_018319.4(TDP1):c.*77C>T rs9488 0.20063
NM_002529.4(NTRK1):c.1674G>A (p.Gln558=) rs6334 0.19892
NM_020631.4(PLEKHG5):c.*1440C>T rs3007417 0.19870
NM_024577.4(SH3TC2):c.*6436G>T rs11168079 0.19789
NM_033305.3(VPS13A):c.*222G>A rs12343797 0.19772
NM_003477.2(PDHX):c.-202A>G rs113073242 0.19613
NM_003477.2(PDHX):c.-505G>A rs16926448 0.19609
NM_003477.3(PDHX):c.108T>C (p.Ser36=) rs1049307 0.19592
NM_003477.3(PDHX):c.67C>T (p.Arg23Cys) rs1049306 0.19588
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser) rs2071421 0.19530
NM_020631.4(PLEKHG5):c.*990C>T rs3007418 0.19422
NM_004565.3(PEX14):c.384+14A>T rs284238 0.19360
NM_002180.3(IGHMBP2):c.823A>G (p.Ile275Val) rs10896380 0.19067
NM_033305.3(VPS13A):c.6492T>C (p.Asp2164=) rs7025532 0.18911
NM_002180.3(IGHMBP2):c.-2C>T rs4930624 0.18778
NM_002496.4(NDUFS8):c.*14C>T rs1051806 0.18509
NM_001136472.2(LITAF):c.*796T>C rs1198 0.18402
NM_001303.4(COX10):c.*371A>G rs11078234 0.18397
NM_003477.2(PDHX):c.-124G>C rs375130125 0.18392
NM_170707.4(LMNA):c.861T>C (p.Ala287=) rs538089 0.18331
NM_018972.4(GDAP1):c.*1878G>T rs16938896 0.18293
NM_018972.4(GDAP1):c.*357A>G rs1135715 0.18199
NM_018972.4(GDAP1):c.*830C>G rs4737414 0.18198
NM_004168.4(SDHA):c.1969G>A (p.Val657Ile) rs6962 0.18133
NM_024577.4(SH3TC2):c.*719G>A rs10050933 0.18073
NM_001005361.3(DNM2):c.*268A>T rs12461992 0.17591
NM_000183.2(HADHB):c.-214C>T rs72809668 0.17558
NM_001303.4(COX10):c.*1076T>C rs1050216 0.17502
NM_000182.5(HADHA):c.*302G>A rs1049987 0.17222
NM_000182.5(HADHA):c.474C>T (p.Tyr158=) rs11552518 0.16973
NM_001122955.4(BSCL2):c.486+11G>T rs72929434 0.16805
NM_002778.4(PSAP):c.1350+5G>A rs11000016 0.16762
NM_024577.4(SH3TC2):c.*5999G>A rs79866394 0.16703
NM_014365.3(HSPB8):c.*684G>A rs1133026 0.16667
NM_001122955.4(BSCL2):c.1137A>G (p.Glu379=) rs6856 0.16571
NM_001376.5(DYNC1H1):c.624G>A (p.Pro208=) rs3818188 0.16558
NM_024577.4(SH3TC2):c.*4719C>G rs6885467 0.16464
NM_024577.4(SH3TC2):c.*1309C>T rs1007401 0.16452
NM_024577.4(SH3TC2):c.*6692A>G rs11168078 0.16452
NM_024577.4(SH3TC2):c.*17903A>G rs76444127 0.16396
NM_024577.4(SH3TC2):c.*14621G>T rs17795097 0.16395
NM_024577.4(SH3TC2):c.*20463T>C rs77021631 0.16394
NM_024577.4(SH3TC2):c.*20166T>A rs17795091 0.16389
NM_020247.5(COQ8A):c.117G>A (p.Ala39=) rs11549708 0.16388
NM_015046.7(SETX):c.*562C>A rs11787894 0.16282
NM_015046.7(SETX):c.*626C>T rs11795382 0.16247
NM_001079866.2(BCS1L):c.1017T>C (p.Pro339=) rs35843327 0.15996
NM_001136472.2(LITAF):c.274A>G (p.Ile92Val) rs4280262 0.15945
NM_001303.4(COX10):c.*757T>C rs1802618 0.15929
NM_003630.3(PEX3):c.*546A>G rs10809 0.15859
NM_001303.4(COX10):c.*322T>C rs11078233 0.15800
NM_001376.5(DYNC1H1):c.3600A>G (p.Gln1200=) rs12893215 0.15549
NM_000253.3(MTTP):c.-252G>C rs11944749 0.15525
NM_001370298.3(FGD4):c.2047-7T>C rs11052113 0.15340
NM_001303.3(COX10):c.-109G>A rs28680987 0.15186
NM_133259.4(LRPPRC):c.1068A>G (p.Gln356=) rs4953042 0.14931
NM_001376.5(DYNC1H1):c.8928A>G (p.Leu2976=) rs8010870 0.14754
NM_001351132.2(PEX5):c.*141G>A rs3813737 0.14722
NM_033305.3(VPS13A):c.6378+15A>T rs12348097 0.14593
NM_021625.5(TRPV4):c.2034C>T (p.Ile678=) rs3742037 0.14446
NM_002180.3(IGHMBP2):c.*665C>T rs9769 0.14339
NM_001374736.1(DST):c.2368T>C (p.Leu790=) rs2144407 0.14274
NM_001723.7(DST):c.98T>C (p.Leu33Ser) rs1024196 0.14270
NM_001953.5(TYMP):c.1284T>A (p.Gly428=) rs1138404 0.14075
NM_022124.6(CDH23):c.*204A>G rs2290022 0.13799
NM_002618.4(PEX13):c.*1194G>A rs75205376 0.13689
NM_000487.6(ARSA):c.*741C>T rs8142033 0.13503
NM_004565.3(PEX14):c.1032G>T (p.Gly344=) rs11539794 0.13336
NM_001136472.2(LITAF):c.-6+594A>G rs12921437 0.13319
NM_000081.4(LYST):c.153A>C (p.Gly51=) rs11464 0.13219
NM_003680.3(YARS1):c.-738C>G rs3737251 0.13215
NM_000530.8(MPZ):c.*761A>G rs16832786 0.13087
NM_014317.5(PDSS1):c.*76C>T rs12776877 0.13025
NM_001365536.1(SCN9A):c.2105-15G>A rs4525717 0.12980
NM_001376.5(DYNC1H1):c.12087C>A (p.His4029Gln) rs10129889 0.12866
NM_002778.4(PSAP):c.-4C>T rs2070188 0.12811
NM_003477.3(PDHX):c.-4C>G rs3818401 0.12767
NM_021625.5(TRPV4):c.789T>C (p.Asp263=) rs3742034 0.12664
NM_000521.4(HEXB):c.619A>G (p.Ile207Val) rs10805890 0.12644
NM_000158.4(GBE1):c.143+10G>T rs9820490 0.12510
NM_181882.3(PRX):c.3248C>G (p.Pro1083Arg) rs3745202 0.12427
NM_181882.3(PRX):c.306C>T (p.Thr102=) rs744389 0.12409
NM_001386140.1(MTTP):c.522T>C (p.Cys174=) rs982424 0.12209
NM_015046.7(SETX):c.1979C>G (p.Ala660Gly) rs882709 0.12168
NM_000217.3(KCNA1):c.-110G>A rs35678382 0.12116
NM_000288.4(PEX7):c.-56C>T rs73777751 0.11791
NM_000487.6(ARSA):c.*340T>A rs5741862 0.11788
NM_004544.4(NDUFA10):c.*1923_*1924insA rs138899326 0.11754
NM_004544.4(NDUFA10):c.5C>G (p.Ala2Gly) rs11541494 0.11689
NM_004544.4(NDUFA10):c.*308C>T rs8369 0.11658
NM_024577.4(SH3TC2):c.*10968G>A rs13166730 0.11562
NM_004544.4(NDUFA10):c.*2309G>A rs1132778 0.11433
NM_000153.4(GALC):c.742G>A (p.Asp248Asn) rs34362748 0.11424
NM_020312.4(COQ9):c.*456C>A rs223869 0.11358
NM_000153.4(GALC):c.42G>C (p.Ala14=) rs112992946 0.11300
NM_000153.4(GALC):c.61G>C (p.Ala21Pro) rs111887056 0.11296
NM_000153.4(GALC):c.75C>A (p.Gly25=) rs111976362 0.11287
NM_006415.4(SPTLC1):c.*1302T>G rs7035964 0.11234
NM_020631.6(PLEKHG5):c.1801-12C>A rs943584 0.11198
NM_001365536.1(SCN9A):c.*2854T>C rs73017538 0.11196
NM_004863.4(SPTLC2):c.*2177A>C rs17824567 0.11179
NM_006096.4(NDRG1):c.756-5C>T rs2227262 0.11176
NM_000153.4(GALC):c.*1126G>A rs1042035 0.11091
NM_004863.4(SPTLC2):c.*2159A>G rs45493395 0.11081
NM_000108.5(DLD):c.*28G>T rs17154615 0.10964
NM_004544.4(NDUFA10):c.*2602C>T rs58261980 0.10946
NM_000081.4(LYST):c.2355T>C (p.Leu785=) rs3768066 0.10928
NM_022124.6(CDH23):c.9319+11G>A rs11000013 0.10868
NM_001127649.3(PEX26):c.*1590G>A rs5992169 0.10823
NM_001127649.3(PEX26):c.*1669C>G rs112015789 0.10796
NM_001127649.3(PEX26):c.*917C>T rs9605518 0.10773
NM_001365536.1(SCN9A):c.*1013C>T rs16851754 0.10746
NM_001365536.1(SCN9A):c.*1796C>T rs16851751 0.10742
NM_001386140.1(MTTP):c.969T>C (p.Ala323=) rs17533489 0.10642
NM_003680.4(YARS1):c.57+14G>T rs72654020 0.10621
NM_003680.4(YARS1):c.1218G>C (p.Leu406=) rs699005 0.10610
NM_001130823.3(DNMT1):c.979A>G (p.Ile327Val) rs2228612 0.10575
NM_018319.4(TDP1):c.400G>A (p.Ala134Thr) rs28365054 0.10566
NM_033305.2(VPS13A):c.-181G>A rs117488726 0.10492
NM_003477.3(PDHX):c.798T>C (p.Pro266=) rs61760973 0.10477
NM_033305.3(VPS13A):c.3045G>A (p.Pro1015=) rs11145366 0.10477
NM_006158.5(NEFL):c.*1107C>T rs3761 0.10372
NM_004168.4(SDHA):c.1170C>T (p.Phe390=) rs35277230 0.10356
NM_000274.4(OAT):c.*185C>T rs2459216 0.10300
NM_133259.4(LRPPRC):c.3900+14C>T rs3795859 0.10271
NM_020631.6(PLEKHG5):c.2163G>A (p.Glu721=) rs62639695 0.10172
NM_001127649.3(PEX26):c.-318A>G rs62239019 0.10068
NM_005908.4(MANBA):c.315G>A (p.Thr105=) rs6857760 0.10011
NM_022041.4(GAN):c.*2188T>C rs2290949 0.09906
NM_078470.6(COX15):c.*3417T>C rs10883407 0.09903
NM_001113491.2(SEPTIN9):c.*1035G>A rs368116 0.09627
NM_133259.4(LRPPRC):c.3900+15C>T rs76850904 0.09620
NM_004376.5(COX15):c.*3268A>C rs1056844 0.09586
NM_002047.4(GARS1):c.222+5C>T rs2072236 0.09556
NM_002047.4(GARS1):c.93G>C (p.Leu31=) rs2529438 0.09548
NM_001127649.3(PEX26):c.*1635G>C rs361703 0.09478
NM_000487.6(ARSA):c.-345G>C rs6151406 0.09453
NM_001953.5(TYMP):c.1412C>T (p.Ser471Leu) rs11479 0.09354
NM_005138.3(SCO2):c.-18G>A rs74479613 0.09346
NM_015046.7(SETX):c.*2262A>G rs997784 0.09345
NM_022041.4(GAN):c.*235T>C rs16955203 0.09324
NM_015046.7(SETX):c.6935+8T>C rs17148873 0.09319
NM_000158.4(GBE1):c.579G>A (p.Lys193=) rs17019144 0.09257
NM_000081.4(LYST):c.4392C>T (p.Asn1464=) rs11583387 0.09239
NM_020631.4(PLEKHG5):c.*1304G>A rs45604837 0.09117
NM_001370298.3(FGD4):c.*1148C>T rs56110646 0.09020
NM_001370298.3(FGD4):c.*1723C>T rs4931030 0.09014
NM_001370298.3(FGD4):c.*3920del rs144034303 0.09005
NM_001370658.1(BTD):c.1353T>C (p.Cys451=) rs3817641 0.08986
NM_001370298.3(FGD4):c.*1828A>T rs4931031 0.08985
NM_001370298.3(FGD4):c.1750-12C>T rs73083501 0.08885
NM_033305.3(VPS13A):c.*565G>A rs989391 0.08857
NM_000158.4(GBE1):c.342C>T (p.Tyr114=) rs13320194 0.08854
NM_001386140.1(MTTP):c.294G>C (p.Glu98Asp) rs2306986 0.08726
NM_022124.6(CDH23):c.9873G>A (p.Thr3291=) rs2290021 0.08719
NM_014845.6(FIG4):c.*29G>A rs10659 0.08648
NM_002617.4(PEX10):c.913-4G>A rs11586985 0.08566
NM_004863.4(SPTLC2):c.*2702G>A rs10147023 0.08565
NM_022041.4(GAN):c.*2321_*2322insG rs202192140 0.08532
NM_024577.4(SH3TC2):c.*8756G>T rs7733177 0.08504
NM_021625.5(TRPV4):c.795C>T (p.His265=) rs1344554 0.08478
NM_006158.5(NEFL):c.1170-13T>C rs76347846 0.08329
NM_015046.7(SETX):c.7834A>G (p.Ser2612Gly) rs3739927 0.08329
NM_006158.5(NEFL):c.*1643G>A rs8077 0.08320
NM_001386140.1(MTTP):c.497A>G (p.Asn166Ser) rs3792683 0.08314
NM_030962.4(SBF2):c.2035G>A (p.Glu679Lys) rs7102464 0.08286
NM_001386140.1(MTTP):c.*183C>T rs74542928 0.08278
NM_001386140.1(MTTP):c.*862C>A rs6832927 0.08274
NM_001386140.1(MTTP):c.*506A>G rs6832119 0.08272
NM_004168.4(SDHA):c.1908+15C>T rs34504623 0.08152
NM_002047.4(GARS1):c.2145A>G (p.Thr715=) rs4593 0.08113
NM_001113491.2(SEPTIN9):c.434C>T (p.Pro145Leu) rs34587622 0.08095
NM_001034850.3(RETREG1):c.603T>C (p.Cys201=) rs16868675 0.08069
NM_021830.5(TWNK):c.*521C>G rs11542131 0.08029
NM_003680.3(YARS1):c.-683C>T rs72654022 0.07993
NM_030962.4(SBF2):c.3646C>G (p.Gln1216Glu) rs12574508 0.07978
NM_001113491.2(SEPTIN9):c.*764C>G rs422959 0.07882
NM_001351132.2(PEX5):c.-17+290T>A rs113752912 0.07875
NM_024577.4(SH3TC2):c.*19519G>A rs10039839 0.07821
NM_022124.6(CDH23):c.*510G>A rs1054635 0.07812
NM_000466.3(PEX1):c.-53C>G rs12386703 0.07798
NM_133259.4(LRPPRC):c.*1458A>G rs371572374 0.07783
NM_024577.4(SH3TC2):c.*11852G>T rs13359285 0.07778
NM_001370298.3(FGD4):c.1404+8G>A rs12823621 0.07737
NM_033305.3(VPS13A):c.6027C>T (p.Tyr2009=) rs17424026 0.07721
NM_001605.3(AARS1):c.671+3A>G rs74024185 0.07668
NM_001605.3(AARS1):c.824G>A (p.Gly275Asp) rs11537667 0.07667
NM_133259.4(LRPPRC):c.*556A>T rs1136998 0.07663
NM_014874.4(MFN2):c.2204+15T>C rs77262016 0.07571
NM_001042472.3(ABHD12):c.*320_*321del rs58058232 0.07558
NM_015046.7(SETX):c.3147C>T (p.His1049=) rs3739921 0.07515
NM_000487.6(ARSA):c.*1570C>T rs79823940 0.07507
NM_001386140.1(MTTP):c.39C>G (p.Ser13=) rs7667001 0.07507
NM_000487.6(ARSA):c.*1369C>T rs76841085 0.07487
NM_014365.3(HSPB8):c.582C>T (p.Thr194=) rs4628742 0.07444
NM_000156.6(GAMT):c.*276C>T rs266810 0.07427
NM_016156.6(MTMR2):c.*1066T>C rs16922622 0.07419
NM_000156.6(GAMT):c.*146A>C rs659455 0.07418
NM_000156.6(GAMT):c.*151T>C rs659460 0.07383
NM_001386140.1(MTTP):c.1151A>C (p.Asp384Ala) rs17029215 0.07361
NM_001386140.1(MTTP):c.933C>A (p.Thr311=) rs17029213 0.07360
NM_001386140.1(MTTP):c.1769+9C>T rs34734558 0.07357
NM_000287.4(PEX6):c.2426C>T (p.Ala809Val) rs35830695 0.07353
NM_001365536.1(SCN9A):c.*2146G>C rs1062844 0.07204
NM_016156.6(MTMR2):c.*1396C>T rs16922615 0.07185
NM_004863.4(SPTLC2):c.*1134T>C rs17751562 0.07179
NM_003560.4(PLA2G6):c.87G>A (p.Val29=) rs2267369 0.07176
NM_198252.3(GSN):c.2115T>C (p.Phe705=) rs9102 0.07073
NM_000156.6(GAMT):c.626C>T (p.Thr209Met) rs17851582 0.07010
NM_020631.6(PLEKHG5):c.43+13G>A rs78593902 0.07001
NM_001130823.3(DNMT1):c.1632C>A (p.Ile544=) rs2228613 0.06881
NM_030962.4(SBF2):c.*1619A>C rs360126 0.06845
NM_000521.4(HEXB):c.772-4A>G rs17561000 0.06806
NM_001365536.1(SCN9A):c.3802-4A>G rs75230218 0.06754
NM_006158.5(NEFL):c.*426G>A rs73546943 0.06709
NM_000158.4(GBE1):c.1519A>G (p.Thr507Ala) rs2228389 0.06703
NM_004813.4(PEX16):c.*587A>G rs72902478 0.06684
NM_015046.7(SETX):c.*1365G>T rs7875801 0.06684
NM_001365536.1(SCN9A):c.*1774G>A rs114843828 0.06654
NM_001365536.1(SCN9A):c.4812G>T (p.Val1604=) rs149207258 0.06646
NM_001365536.1(SCN9A):c.*2297A>T rs75345520 0.06645
NM_000156.6(GAMT):c.*311C>G rs266811 0.06572
NM_018319.4(TDP1):c.-21C>T rs34348197 0.06559
NM_000784.4(CYP27A1):c.438G>A (p.Pro146=) rs692003 0.06494
NM_001195248.2(APTX):c.484-12_484-11insG rs377129152 0.06469
NM_000274.4(OAT):c.*535T>C rs8182 0.06407
NM_001127649.3(PEX26):c.*1623G>T rs114698763 0.06369
NM_002529.4(NTRK1):c.1806-4del rs1799770 0.06316
NM_000284.4(PDHA1):c.*614G>T rs5955761 0.06313
NM_001303.4(COX10):c.184A>T (p.Thr62Ser) rs2230351 0.06303
NM_020631.6(PLEKHG5):c.1240G>A (p.Ala414Thr) rs74809741 0.06203
NM_004637.6(RAB7A):c.*863C>G rs59753334 0.06155
NM_000287.4(PEX6):c.2364G>A (p.Val788=) rs2274515 0.06152
NM_000158.4(GBE1):c.*152C>A rs9820089 0.06146
NM_000287.4(PEX6):c.*319C>T rs736158 0.06143
NM_006096.4(NDRG1):c.755+10T>C rs2233336 0.06123
NM_020247.5(COQ8A):c.*681G>A rs10482 0.06118
NM_000108.5(DLD):c.684+7G>A rs75123588 0.06110
NM_018972.4(GDAP1):c.*1173G>T rs72665430 0.06104
NM_001042472.3(ABHD12):c.-44C>G rs373200654 0.06100
NM_001113491.2(SEPTIN9):c.*740C>T rs442959 0.06084
NM_004863.4(SPTLC2):c.*5531A>G rs17105886 0.06072
NM_000925.3(PDHB):c.*407_*408delAA rs35161513 0.06029
NM_000304.4(PMP22):c.*828G>A rs13027 0.06019
NM_000284.4(PDHA1):c.*1598G>C rs11094770 0.06012
NM_020631.6(PLEKHG5):c.1318A>G (p.Met440Val) rs61740145 0.06002
NM_018319.4(TDP1):c.*1448G>A rs34004710 0.05962
NM_018319.4(TDP1):c.*1452C>T rs34923595 0.05957
NM_003560.4(PLA2G6):c.1086C>T (p.Asn362=) rs2413502 0.05955
NM_018319.4(TDP1):c.*1460C>G rs35944390 0.05950
NM_018319.4(TDP1):c.1077A>G (p.Pro359=) rs17126522 0.05945
NM_000487.6(ARSA):c.459C>T (p.His153=) rs6151412 0.05937
NM_003560.4(PLA2G6):c.957G>A (p.Thr319=) rs11570679 0.05937
NM_001605.3(AARS1):c.*74A>T rs11537663 0.05921
NM_001376.5(DYNC1H1):c.10950C>T (p.Asn3650=) rs17541505 0.05906
NM_000081.4(LYST):c.2316C>T (p.Asp772=) rs16832868 0.05899
NM_198252.3(GSN):c.1694C>T (p.Thr565Met) rs76463933 0.05893
NM_000081.4(LYST):c.5847G>C (p.Gln1949His) rs6665568 0.05891
NM_000081.4(LYST):c.6630A>G (p.Glu2210=) rs34466404 0.05877
NM_030962.4(SBF2):c.909C>T (p.Pro303=) rs16907355 0.05858
NM_022041.4(GAN):c.*1817G>C rs73602873 0.05804
NM_198252.3(GSN):c.1260C>T (p.Gly420=) rs2304393 0.05790
NM_033305.3(VPS13A):c.8571T>C (p.Tyr2857=) rs17340192 0.05788
NM_022041.4(GAN):c.*764G>A rs1934 0.05779
NM_022041.4(GAN):c.*227G>A rs113970605 0.05772
NM_133259.3(LRPPRC):c.-45G>A rs11124961 0.05742
NM_020631.6(PLEKHG5):c.2307G>A (p.Thr769=) rs3138150 0.05741
NM_003172.4(SURF1):c.*118T>C rs4962133 0.05734
NM_005006.7(NDUFS1):c.414T>C (p.Asp138=) rs11548670 0.05713
NM_000304.4(PMP22):c.*228G>A rs1804193 0.05698
NM_001079866.2(BCS1L):c.996C>T (p.Asn332=) rs33946522 0.05607
NM_020631.6(PLEKHG5):c.2428G>A (p.Gly810Ser) rs76625876 0.05582
NM_033305.3(VPS13A):c.5583A>G (p.Thr1861=) rs17423984 0.05526
NM_024407.5(NDUFS7):c.408+10G>T rs2074896 0.05515
NM_020631.6(PLEKHG5):c.1179G>A (p.Leu393=) rs112471131 0.05506
NM_004637.6(RAB7A):c.*189A>G rs11549750 0.05501
NM_001303.4(COX10):c.33C>T (p.Arg11=) rs8076787 0.05496
NM_003172.4(SURF1):c.573C>G (p.Thr191=) rs28715079 0.05492
NM_005138.3(SCO2):c.582C>T (p.Ser194=) rs131811 0.05449
NM_004589.4(SCO1):c.172C>T (p.Pro58Ser) rs1802083 0.05390
NM_006415.4(SPTLC1):c.*445A>G rs7944 0.05348
NM_000399.5(EGR2):c.*287T>A rs61865883 0.05337
NM_000286.3(PEX12):c.-534C>T rs2278950 0.05335
NM_000399.5(EGR2):c.*874A>G rs61865882 0.05335
NM_004544.4(NDUFA10):c.*631C>T rs10933622 0.05326
NM_170707.4(LMNA):c.810+13G>T rs11264444 0.05317
NM_018319.4(TDP1):c.-224A>G rs35439694 0.05316
NM_000371.4(TTR):c.76G>A (p.Gly26Ser) rs1800458 0.05309
NM_000487.6(ARSA):c.585G>T (p.Trp195Cys) rs6151415 0.05295
NM_000153.4(GALC):c.*709A>C rs45572135 0.05219
NM_014874.4(MFN2):c.*1488C>T rs11554507 0.05161
NM_022041.4(GAN):c.*1658T>G rs16955221 0.05141
NM_022041.4(GAN):c.*1068T>G rs57170812 0.05139
NM_022041.4(GAN):c.*1250T>G rs61096092 0.05139
NM_022041.4(GAN):c.*1388A>G rs41484544 0.05121
NM_000487.6(ARSA):c.*96A>G rs6151429 0.05120
NM_002617.4(PEX10):c.279C>T (p.Gly93=) rs1143016 0.05120
NM_000520.6(HEXA):c.*630A>G rs35949555 0.05119
NM_007103.4(NDUFV1):c.1056T>C (p.Ala352=) rs11227859 0.05117
NM_003477.3(PDHX):c.*173G>A rs75863418 0.05112
NM_003477.3(PDHX):c.*200T>C rs16926653 0.05109
NM_003477.3(PDHX):c.339C>T (p.Ile113=) rs34582941 0.05105
NM_004863.4(SPTLC2):c.*6080C>G rs56040359 0.05057
NM_007103.4(NDUFV1):c.549C>G (p.Gly183=) rs10896187 0.05020
NM_003477.3(PDHX):c.241+3G>A rs78878052 0.04995
NM_003477.3(PDHX):c.*890T>C rs1049333 0.04989
NM_003172.4(SURF1):c.280T>C (p.Leu94=) rs28615629 0.04975
NM_001386140.1(MTTP):c.285G>C (p.Gln95His) rs61733139 0.04959
NM_002047.4(GARS1):c.1613+9T>C rs75855065 0.04917
NM_006096.4(NDRG1):c.*711C>T rs16904866 0.04897
NM_001370298.3(FGD4):c.167-61986C>T rs11052033 0.04887
NM_006158.5(NEFL):c.*378A>G rs17052849 0.04877
NM_001365536.1(SCN9A):c.688+13T>C rs74449889 0.04864
NM_014874.4(MFN2):c.*912C>T rs14305 0.04860
NC_000017.11:g.10697578C>A rs2520169 0.04792
NM_001376.5(DYNC1H1):c.*190A>G rs13901 0.04745
NM_003680.4(YARS1):c.*293A>G rs16866009 0.04739
NM_000487.6(ARSA):c.1493G>A (p.Arg498His) rs6151428 0.04709
NM_015046.7(SETX):c.3455T>G (p.Phe1152Cys) rs3739922 0.04708
NM_000304.4(PMP22):c.*1111G>T rs7415 0.04701
NM_014845.6(FIG4):c.1090A>T (p.Met364Leu) rs2295837 0.04647
NM_021830.5(TWNK):c.1102G>A (p.Val368Ile) rs17113613 0.04615
NM_018319.4(TDP1):c.-177C>T rs35132667 0.04596
NM_000182.5(HADHA):c.*510A>T rs13432453 0.04522
NM_000217.3(KCNA1):c.*2174C>T rs73050551 0.04497
NM_000487.6(ARSA):c.*1746G>A rs73172277 0.04494
NM_000217.3(KCNA1):c.*5141G>A rs41482147 0.04492
NM_000399.5(EGR2):c.1086A>C (p.Arg362=) rs45602133 0.04462
NM_014874.4(MFN2):c.1569C>T (p.Ser523=) rs1042837 0.04459
NM_002857.3(PEX19):c.-41C>T rs113442137 0.04456
NM_002857.4(PEX19):c.*2353G>T rs9853 0.04407
NM_001365536.1(SCN9A):c.1469G>A (p.Ser490Asn) rs58022607 0.04393
NM_001365536.1(SCN9A):c.1155G>T (p.Val385=) rs58465962 0.04390
NM_000081.4(LYST):c.574T>G (p.Leu192Val) rs7524261 0.04386
NM_030962.4(SBF2):c.*1144A>G rs3751001 0.04377
NM_005908.4(MANBA):c.*356G>A rs7672268 0.04355
NM_000108.5(DLD):c.1351C>T (p.Leu451=) rs1803921 0.04354
NM_014874.4(MFN2):c.*1100A>G rs41278638 0.04352
NM_006415.4(SPTLC1):c.1136+12A>G rs76562923 0.04351
NM_005908.4(MANBA):c.831A>G (p.Leu277=) rs17033168 0.04331
NM_004589.4(SCO1):c.*310C>T rs2662957 0.04323
NM_024577.4(SH3TC2):c.*1935T>C rs6883926 0.04318
NM_015046.7(SETX):c.*717T>C rs17148857 0.04316
NM_004565.3(PEX14):c.1014C>T (p.Asp338=) rs2128414 0.04291
NM_000217.3(KCNA1):c.*1524A>G rs79357862 0.04290
NM_004637.6(RAB7A):c.219C>T (p.Leu73=) rs4548 0.04279
NM_022041.4(GAN):c.*2498T>G rs2290948 0.04199
NM_004589.4(SCO1):c.*272T>C rs2662956 0.04198
NM_004589.4(SCO1):c.594A>G (p.Pro198=) rs2271228 0.04192
NM_002047.4(GARS1):c.1833T>C (p.Val611=) rs14270 0.04182
NM_002047.4(GARS1):c.1062T>C (p.Phe354=) rs11553502 0.04180
NM_001376.5(DYNC1H1):c.13372+4C>T rs17541657 0.04171
NM_022041.4(GAN):c.*294A>G rs16955210 0.04160
NM_000466.3(PEX1):c.358-11G>C rs113104510 0.04153
NM_020247.5(COQ8A):c.255T>G (p.His85Gln) rs2297411 0.04148
NM_004082.5(DCTN1):c.1605A>G (p.Thr535=) rs13429423 0.04117
NM_001303.4(COX10):c.928+12G>A rs200573622 0.04100
NM_016156.6(MTMR2):c.*1444C>G rs149223349 0.04087
NM_014845.6(FIG4):c.67-7T>C rs56378532 0.04073
NM_016156.6(MTMR2):c.1756C>A (p.Arg586=) rs61735577 0.04066
NM_007103.4(NDUFV1):c.-66G>A rs73490568 0.04056
NM_001042472.3(ABHD12):c.1045G>A (p.Ala349Thr) rs746748 0.04054
NM_000081.4(LYST):c.8411G>A (p.Gly2804Asp) rs35333195 0.04044
NM_002506.3(NGF):c.54G>A (p.Ala18=) rs6325 0.04032
NM_000081.4(LYST):c.3989A>C (p.Asp1330Ala) rs74641549 0.04030
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu) rs45583140 0.04021
NM_001953.5(TYMP):c.1393G>A (p.Ala465Thr) rs112723255 0.04015
NM_000487.6(ARSA):c.1149C>T (p.Asp383=) rs6151425 0.04013
NM_015046.7(SETX):c.*1700G>T rs75682594 0.03993
NM_001386140.1(MTTP):c.1769+14C>T rs41275713 0.03960
NM_006158.5(NEFL):c.*1100C>T rs79736124 0.03959
NM_001386140.1(MTTP):c.730C>G (p.Gln244Glu) rs17599091 0.03958
NM_000156.6(GAMT):c.571-6G>A rs2074899 0.03927
NM_016156.6(MTMR2):c.*2014T>G rs112404010 0.03885
NM_000153.4(GALC):c.550C>T (p.Arg184Cys) rs1805078 0.03877
NM_004082.5(DCTN1):c.859C>A (p.Leu287Met) rs13420401 0.03855
NM_004544.4(NDUFA10):c.*3075T>G rs7588974 0.03737
NM_001365536.1(SCN9A):c.*129C>T rs16851759 0.03731
NM_001127649.3(PEX26):c.*754A>G rs114146293 0.03730
NM_000318.3(PEX2):c.*1141G>A rs10108054 0.03721
NM_000318.3(PEX2):c.*1909G>T rs112352942 0.03714
NM_000318.3(PEX2):c.*2446C>T rs73242165 0.03710
NM_014365.3(HSPB8):c.*440C>G rs13378054 0.03707
NM_004637.6(RAB7A):c.*181G>A rs3206306 0.03706
NM_002529.4(NTRK1):c.1838G>T (p.Gly613Val) rs6339 0.03698
NM_002529.4(NTRK1):c.1810C>T (p.His604Tyr) rs6336 0.03696
NM_004863.4(SPTLC2):c.*1742C>T rs9323644 0.03686
NM_001376.5(DYNC1H1):c.*232C>T rs17512996 0.03685
NM_001136472.2(LITAF):c.*1415C>A rs80119580 0.03674
NM_000081.4(LYST):c.3050G>A (p.Ser1017Asn) rs10465613 0.03661
NM_000318.3(PEX2):c.24G>A (p.Ala8=) rs9298285 0.03660
NM_016156.6(MTMR2):c.1504G>C (p.Glu502Gln) rs61735578 0.03636
NM_004637.6(RAB7A):c.*997T>C rs3755593 0.03614
NM_000284.4(PDHA1):c.-88G>A rs5955751 0.03606
NM_001122955.4(BSCL2):c.765+15C>T rs79586077 0.03596
NM_006096.4(NDRG1):c.*834T>A rs79281324 0.03589
NM_000217.3(KCNA1):c.-959C>T rs11831584 0.03555
NM_000217.3(KCNA1):c.-134G>T rs12817318 0.03550
NM_001370298.3(FGD4):c.*3630T>C rs73313005 0.03542
NM_004544.4(NDUFA10):c.24G>A (p.Leu8=) rs113012830 0.03541
NM_001370298.3(FGD4):c.*4128C>T rs12312970 0.03539
NM_001113491.2(SEPTIN9):c.76+12812C>T rs75147264 0.03538
NM_000318.3(PEX2):c.*2338C>T rs56231626 0.03506
NM_021625.5(TRPV4):c.55C>T (p.Pro19Ser) rs3742030 0.03470
NM_002857.4(PEX19):c.*487T>A rs16831724 0.03465
NM_001953.5(TYMP):c.831G>A (p.Leu277=) rs8141558 0.03453
NM_001005373.4(LRSAM1):c.548C>T (p.Ser183Leu) rs75690855 0.03450
NM_001113491.2(SEPTIN9):c.*377T>G rs9904206 0.03447
NM_001005361.3(DNM2):c.*385C>T rs78160240 0.03446
NM_024577.4(SH3TC2):c.*21472A>G rs59731646 0.03434
NM_001136472.2(LITAF):c.*816T>A rs7187810 0.03432
NM_002617.4(PEX10):c.*11G>A rs3795270 0.03427
NM_018319.4(TDP1):c.1107T>C (p.Asn369=) rs10151377 0.03424
NM_000318.3(PEX2):c.*2142A>G rs79700176 0.03415
NM_181882.3(PRX):c.2017A>G (p.Met673Val) rs61735531 0.03414
NM_002529.4(NTRK1):c.1860C>T (p.Gly620=) rs6338 0.03397
NM_000520.6(HEXA):c.1195A>G (p.Asn399Asp) rs1800430 0.03370
NM_004637.6(RAB7A):c.*183A>G rs774054837 0.03357
NM_012073.5(CCT5):c.738G>A (p.Ala246=) rs11557649 0.03346
NM_001034850.3(RETREG1):c.1145G>C (p.Ser382Thr) rs61733811 0.03341
NM_024577.4(SH3TC2):c.2235T>G (p.Ala745=) rs78120278 0.03339
NM_001034850.3(RETREG1):c.*592G>A rs2401881 0.03326
NM_002529.4(NTRK1):c.2052A>G (p.Gly684=) rs34271945 0.03311
NM_181882.3(PRX):c.2727C>T (p.Pro909=) rs61735546 0.03308
NM_001365536.1(SCN9A):c.*1492C>G rs73017542 0.03296
NM_000318.3(PEX2):c.*1696C>T rs112199677 0.03286
NM_001723.7(DST):c.4980A>C (p.Val1660=) rs2230863 0.03282
NM_000166.6(GJB1):c.*117C>T rs41307256 0.03266
NM_005006.7(NDUFS1):c.*733A>G rs6707707 0.03241
NM_198252.3(GSN):c.232G>A (p.Ala78Thr) rs2230287 0.03231
NM_006096.4(NDRG1):c.*866A>T rs16904865 0.03230
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_001365536.1(SCN9A):c.*2136C>G rs77050817 0.03222
NM_001723.7(DST):c.5055T>C (p.Asn1685=) rs2230864 0.03211
NM_024577.4(SH3TC2):c.*17317G>A rs78254952 0.03209
NM_024577.4(SH3TC2):c.*2397G>A rs17722155 0.03207
NM_024577.4(SH3TC2):c.*3860G>A rs1432797 0.03207
NM_024577.4(SH3TC2):c.*10485G>A rs76931184 0.03206
NM_024577.4(SH3TC2):c.*6162C>T rs17795115 0.03204
NM_022041.4(GAN):c.*81T>C rs78835723 0.03196
NM_000217.3(KCNA1):c.-731C>G rs74058081 0.03186
NM_000143.4(FH):c.1302C>T (p.Cys434=) rs2070080 0.03163
NM_000153.4(GALC):c.330C>T (p.Asp110=) rs11552556 0.03162
NM_018319.4(TDP1):c.*393T>C rs7150480 0.03142
NM_024577.4(SH3TC2):c.*2900G>T rs3763019 0.03116
NM_002857.4(PEX19):c.*1084T>C rs77962224 0.03113
NM_024577.4(SH3TC2):c.*11120G>A rs2069087 0.03085
NM_024577.4(SH3TC2):c.*2428C>T rs149384180 0.03078
NM_001376.5(DYNC1H1):c.7449C>T (p.Ile2483=) rs17541158 0.03068
NM_005908.4(MANBA):c.*317A>G rs78514870 0.03053
NM_000520.6(HEXA):c.9C>T (p.Ser3=) rs1800428 0.03048
NM_030962.4(SBF2):c.4933-15T>C rs75447733 0.03044
NM_001365536.1(SCN9A):c.*1184T>G rs11902920 0.03035
NM_014365.3(HSPB8):c.402T>C (p.Ile134=) rs56323028 0.03035
NM_001376.5(DYNC1H1):c.7524A>G (p.Leu2508=) rs17541179 0.03009
NM_002047.2(GARS1):c.-205C>T rs17159262 0.03007
NM_198252.3(GSN):c.1535C>G (p.Thr512Ser) rs77681311 0.02987
NM_006096.4(NDRG1):c.*1622T>G rs7825439 0.02986
NM_000081.4(LYST):c.7857T>C (p.His2619=) rs34160788 0.02966
NM_004813.2(PEX16):c.-279G>A rs2280330 0.02963
NM_000081.4(LYST):c.6900G>A (p.Leu2300=) rs10926586 0.02954
NM_002047.2(GARS1):c.-217A>G rs2970504 0.02929
NM_004168.4(SDHA):c.113A>T (p.Asp38Val) rs34635677 0.02888
NM_000081.4(LYST):c.7137A>C (p.Leu2379=) rs61738992 0.02884
NM_000143.4(FH):c.309C>T (p.Ala103=) rs10926501 0.02876
NM_133259.4(LRPPRC):c.3570-3C>T rs35113761 0.02876
NM_020312.4(COQ9):c.102G>A (p.Pro34=) rs223864 0.02864
NM_024577.4(SH3TC2):c.512G>A (p.Gly171Glu) rs17722293 0.02854
NM_005006.7(NDUFS1):c.*256C>T rs10198830 0.02838
NM_005006.7(NDUFS1):c.551+14C>A rs10206644 0.02838
NM_004376.5(COX15):c.*3661T>C rs73345141 0.02836
NM_005006.7(NDUFS1):c.975C>T (p.Arg325=) rs2230890 0.02835
NM_012073.5(CCT5):c.*856A>C rs72738998 0.02833
NM_001113491.2(SEPTIN9):c.*283C>T rs9897357 0.02822
NM_000487.6(ARSA):c.*1076A>T rs114833506 0.02807
NM_000487.6(ARSA):c.*1769A>G rs56788262 0.02807
NM_001303.4(COX10):c.1038G>A (p.Ser346=) rs2230355 0.02804
NM_004863.4(SPTLC2):c.*4198C>T rs143542715 0.02771
NM_004863.4(SPTLC2):c.*5358T>C rs8021886 0.02770
NM_001365536.1(SCN9A):c.5756A>G (p.Asp1919Gly) rs3750904 0.02756
NM_000487.6(ARSA):c.-136C>G rs6151408 0.02754
NM_004863.4(SPTLC2):c.*4914C>T rs150007923 0.02739
NM_000487.6(ARSA):c.*2374C>A rs11704557 0.02731
NM_000487.6(ARSA):c.*503A>G rs141494339 0.02726
NM_005138.3(SCO2):c.327C>T (p.His109=) rs75485962 0.02713
NM_001370298.3(FGD4):c.*4652T>C rs16920125 0.02707
NM_021625.5(TRPV4):c.2459-9T>G rs115373018 0.02700
NM_000108.5(DLD):c.685-14T>A rs80111449 0.02691
NM_001042472.3(ABHD12):c.*454G>A rs41309917 0.02689
NM_014365.3(HSPB8):c.-193T>C rs11549401 0.02683
NM_001136472.2(LITAF):c.*421C>T rs13336723 0.02660
NM_001127649.3(PEX26):c.*2878C>T rs116424707 0.02655
NM_198252.3(GSN):c.29A>G (p.Lys10Arg) rs115224458 0.02654
NM_018972.4(GDAP1):c.*1647C>T rs115466662 0.02649
NM_003477.3(PDHX):c.641+4T>C rs2767035 0.02645
NM_020631.6(PLEKHG5):c.2576G>A (p.Arg859His) rs61737997 0.02621
NM_001127649.3(PEX26):c.*1608G>A rs116824049 0.02602
NM_001540.5(HSPB1):c.*11C>T rs1058872 0.02598
NM_014874.4(MFN2):c.-149-15T>G rs114306601 0.02587
NM_004863.4(SPTLC2):c.-43C>T rs7155278 0.02570
NM_001113491.2(SEPTIN9):c.*955C>T rs116655270 0.02567
NM_000153.4(GALC):c.397T>C (p.Leu133=) rs56194647 0.02565
NM_002857.4(PEX19):c.*2417C>T rs193290301 0.02557
NM_021625.5(TRPV4):c.81T>C (p.Gly27=) rs34599967 0.02557
NM_000466.3(PEX1):c.2088A>G (p.Ile696Met) rs35996821 0.02553
NM_002857.4(PEX19):c.433-11G>T rs41265791 0.02551
NM_005006.7(NDUFS1):c.*158T>C rs3770989 0.02543
NM_001374736.1(DST):c.4930-367C>T rs150986597 0.02538
NM_000318.3(PEX2):c.733G>A (p.Ala245Thr) rs112108739 0.02536
NM_000466.3(PEX1):c.3439-14_3439-13del rs150005994 0.02536
NM_001113491.2(SEPTIN9):c.1042+10C>T rs114550498 0.02534
NM_001723.7(DST):c.7765A>G (p.Ile2589Val) rs150191284 0.02534
NM_001723.7(DST):c.6633A>G (p.Ala2211=) rs115542549 0.02533
NM_018972.4(GDAP1):c.*2408G>A rs11996204 0.02523
NM_000217.3(KCNA1):c.*5145T>C rs11063406 0.02510
NM_001374736.1(DST):c.4452T>C (p.Asn1484=) rs112640831 0.02508
NM_020631.6(PLEKHG5):c.2827G>C (p.Gly943Arg) rs114619322 0.02505
NM_004813.4(PEX16):c.303C>T (p.Ala101=) rs80275010 0.02501
NM_133259.4(LRPPRC):c.41C>G (p.Ala14Gly) rs114205971 0.02459
NM_014317.5(PDSS1):c.89G>T (p.Gly30Val) rs17855857 0.02444
NM_003477.3(PDHX):c.70C>G (p.Arg24Gly) rs11539201 0.02438
NM_001127649.3(PEX26):c.*1003T>G rs79085553 0.02437
NM_000143.4(FH):c.927G>A (p.Pro309=) rs61737760 0.02428
NM_000487.6(ARSA):c.243C>T (p.Gly81=) rs6151410 0.02425
NM_002618.4(PEX13):c.1078C>G (p.Leu360Val) rs74350038 0.02423
NM_005006.7(NDUFS1):c.123C>T (p.Val41=) rs2230888 0.02420
NM_001005361.3(DNM2):c.1077C>T (p.Gly359=) rs112238216 0.02416
NM_174936.4(PCSK9):c.*537del rs72646535 0.02413
NM_000288.4(PEX7):c.-31G>A rs115866467 0.02411
NM_001303.4(COX10):c.-63C>T rs77877576 0.02405
NM_002496.4(NDUFS8):c.*40A>G rs61329983 0.02403
NM_001374736.1(DST):c.4590T>G (p.Asn1530Lys) rs35014998 0.02397
NM_001136472.2(LITAF):c.*143C>T rs1801977 0.02394
NM_000318.3(PEX2):c.*458G>A rs143201132 0.02392
NM_000081.4(LYST):c.7793T>A (p.Phe2598Tyr) rs34642241 0.02388
NM_033305.3(VPS13A):c.*942C>T rs1048743 0.02380
NM_004565.3(PEX14):c.475G>A (p.Val159Met) rs74052157 0.02375
NC_000012.12:g.109833413C>T rs56079803 0.02373
NM_005908.4(MANBA):c.1482G>T (p.Leu494=) rs74718667 0.02371
NM_024577.4(SH3TC2):c.*14411G>A rs143623684 0.02369
NM_004544.4(NDUFA10):c.*3349G>A rs77216981 0.02367
NM_033305.3(VPS13A):c.2964+13A>G rs115996561 0.02367
NM_001127649.3(PEX26):c.*2701G>C rs114075265 0.02360
NM_001386140.1(MTTP):c.*113G>C rs112407688 0.02360
NM_001386140.1(MTTP):c.1981G>A (p.Gly661Ser) rs113337987 0.02355
NM_001386140.1(MTTP):c.660T>C (p.Tyr220=) rs113557405 0.02353
NM_012073.5(CCT5):c.*1377C>G rs11956986 0.02353
NM_033305.3(VPS13A):c.3108T>C (p.Ile1036=) rs78046172 0.02340
NM_021625.5(TRPV4):c.854-5C>T rs116401333 0.02337
NM_001136472.2(LITAF):c.*439G>A rs13337025 0.02310
NM_000287.4(PEX6):c.*212C>T rs1051218 0.02308
NM_033305.3(VPS13A):c.1020A>G (p.Glu340=) rs76751358 0.02305
NM_014874.4(MFN2):c.*1161C>A rs115706485 0.02302
NM_033305.3(VPS13A):c.2718A>G (p.Val906=) rs79287753 0.02299
NM_033305.3(VPS13A):c.4469G>A (p.Arg1490Lys) rs76077278 0.02297
NM_003477.3(PDHX):c.507C>T (p.Ile169=) rs79170416 0.02292
NM_024577.4(SH3TC2):c.1350G>A (p.Pro450=) rs17722227 0.02289
NM_004082.5(DCTN1):c.*21C>T rs11555696 0.02286
NM_000182.5(HADHA):c.1392+10G>A rs60085478 0.02277
NM_022041.4(GAN):c.*2322T>G rs11862952 0.02277
NM_002618.4(PEX13):c.*775G>A rs143032208 0.02272
NM_006096.4(NDRG1):c.*264C>G rs73711834 0.02269
NM_014317.5(PDSS1):c.*157T>G rs1046187 0.02265
NM_001365536.1(SCN9A):c.3802-8T>C rs76550960 0.02262
NM_002857.4(PEX19):c.*2637G>A rs41265787 0.02253
NM_001042472.3(ABHD12):c.-94C>T rs536190889 0.02252
NM_014845.6(FIG4):c.-120C>T rs75045314 0.02248
NM_014874.4(MFN2):c.159C>T (p.Ser53=) rs61733200 0.02240
NM_001351132.2(PEX5):c.815T>C (p.Met272Thr) rs76708142 0.02223
NM_000166.6(GJB1):c.*163G>T rs139775308 0.02210
NM_001365536.1(SCN9A):c.3362G>A (p.Arg1121Gln) rs74401238 0.02210
NM_001370298.3(FGD4):c.*4211T>C rs75583772 0.02209
NM_000182.5(HADHA):c.1072C>A (p.Gln358Lys) rs2229420 0.02193
NM_002857.4(PEX19):c.*898A>G rs8989 0.02188
NM_014874.4(MFN2):c.*1576C>T rs78523898 0.02185
NM_000284.4(PDHA1):c.*392G>A rs56318063 0.02182
NM_014845.6(FIG4):c.-121G>A rs75509752 0.02164
NM_014874.4(MFN2):c.*730C>T rs112550280 0.02163
NM_000371.4(TTR):c.*21C>A rs12226 0.02158
NM_000287.4(PEX6):c.207C>T (p.Pro69=) rs11539736 0.02141
NM_004813.4(PEX16):c.*438C>T rs2280328 0.02139
NM_015046.7(SETX):c.*561A>C rs73661150 0.02138
NM_024577.4(SH3TC2):c.3472G>A (p.Val1158Ile) rs55853803 0.02130
NM_001723.7(DST):c.3346C>T (p.His1116Tyr) rs6909714 0.02098
NM_001351132.2(PEX5):c.*794_*795dup rs112785895 0.02091
NM_000287.4(PEX6):c.2644G>A (p.Val882Ile) rs2274516 0.02086
NM_133259.4(LRPPRC):c.1888C>T (p.Leu630=) rs35881858 0.02080
NM_000166.6(GJB1):c.*34C>A rs113014279 0.02074
NM_181882.3(PRX):c.1051C>T (p.Pro351Ser) rs73933276 0.02067
NM_022124.6(CDH23):c.9978C>T (p.Asn3326=) rs73277900 0.02056
NM_033305.3(VPS13A):c.4509A>G (p.Gln1503=) rs79914457 0.02054
NM_003680.3(YARS1):c.-442C>T rs115959445 0.02048
NM_006329.4(FBLN5):c.*623A>T rs77357345 0.02046
NM_001723.7(DST):c.3809A>G (p.Lys1270Arg) rs35497571 0.02037
NM_001136472.2(LITAF):c.-6+681dup rs398100090 0.02035
NM_024577.4(SH3TC2):c.*20207C>T rs114079860 0.02033
NM_018319.4(TDP1):c.*539G>A rs35090050 0.02032
NM_004376.5(COX15):c.*4473T>C rs10490941 0.02022
NM_001127649.3(PEX26):c.*1627G>T rs1056492732 0.01991
NM_000217.3(KCNA1):c.-839C>T rs12303537 0.01982
NM_001303.4(COX10):c.83C>T (p.Thr28Ile) rs16948978 0.01976
NM_000530.8(MPZ):c.684C>T (p.Ser228=) rs34307129 0.01960
NM_133259.4(LRPPRC):c.*2176A>T rs73924082 0.01948
NM_006096.4(NDRG1):c.*100G>A rs2233348 0.01904
NM_002617.4(PEX10):c.820A>G (p.Thr274Ala) rs34154371 0.01899
NM_004376.5(COX15):c.*3817A>G rs76530337 0.01896
NM_020312.4(COQ9):c.*411C>T rs112075830 0.01875
NM_020312.4(COQ9):c.864G>C (p.Lys288Asn) rs61730662 0.01873
NM_133259.4(LRPPRC):c.1432A>G (p.Thr478Ala) rs35035668 0.01872
NM_006096.4(NDRG1):c.*1135G>A rs10675 0.01865
NM_000371.3(TTR):c.*261C>T rs62093482 0.01852
NM_004082.5(DCTN1):c.2448A>G (p.Ala816=) rs1130484 0.01851
NM_000530.8(MPZ):c.600G>A (p.Gly200=) rs16832790 0.01850
NM_033305.3(VPS13A):c.2693T>C (p.Val898Ala) rs78048112 0.01850
NM_016156.6(MTMR2):c.80+13C>T rs139510268 0.01848
NM_001005373.4(LRSAM1):c.1830+6C>T rs75171318 0.01846
NM_001127649.3(PEX26):c.*400C>T rs74988725 0.01840
NM_001127649.3(PEX26):c.*692T>C rs79936154 0.01840
NM_015046.7(SETX):c.6106+14G>A rs73661157 0.01840
NM_002180.2(IGHMBP2):c.-68T>C rs57258566 0.01836
NM_001127649.3(PEX26):c.*943G>A rs79785382 0.01835
NM_174889.5(NDUFAF2):c.462T>C (p.Phe154=) rs77878573 0.01828
NM_004813.4(PEX16):c.307G>A (p.Val103Met) rs11553094 0.01821
NM_004637.6(RAB7A):c.*206G>A rs16851333 0.01808
NM_000182.5(HADHA):c.1620+11G>C rs112236946 0.01807
NM_000153.4(GALC):c.1072C>T (p.Leu358=) rs74073730 0.01792
NM_002529.4(NTRK1):c.710C>T (p.Thr237Met) rs55909005 0.01791
NM_033305.3(VPS13A):c.9382T>C (p.Leu3128=) rs34255276 0.01788
NM_003477.3(PDHX):c.531C>T (p.Pro177=) rs76486106 0.01781
NM_133259.4(LRPPRC):c.*825A>G rs17031753 0.01776
NM_001303.4(COX10):c.*438G>C rs75823746 0.01767
NM_133259.4(LRPPRC):c.*1088G>C rs79225555 0.01767
NM_001113491.2(SEPTIN9):c.*939A>G rs74779723 0.01764
NM_001303.4(COX10):c.*974C>A rs2071245 0.01762
NM_001303.4(COX10):c.290A>G (p.Tyr97Cys) rs16948986 0.01758
NM_001953.5(TYMP):c.204C>T (p.Gly68=) rs34375653 0.01755
NM_024577.4(SH3TC2):c.2872+9G>A rs76488338 0.01755
NM_000304.4(PMP22):c.*1120T>C rs11654383 0.01749
NM_003477.3(PDHX):c.438C>T (p.Asp146=) rs75182779 0.01749
NM_003477.3(PDHX):c.*123A>G rs59918794 0.01748
NM_001374736.1(DST):c.4930-864A>C rs17674547 0.01739
NM_001370658.1(BTD):c.-94C>T rs114567021 0.01730
NM_005006.7(NDUFS1):c.*399G>A rs77000728 0.01727
NM_002047.2(GARS1):c.-317G>A rs116125961 0.01714
NM_001386140.1(MTTP):c.*279C>G rs115807483 0.01703
NM_002857.4(PEX19):c.*328A>G rs115260345 0.01698
NM_006329.4(FBLN5):c.*514A>G rs17804735 0.01698
NM_006158.5(NEFL):c.*883G>C rs76387248 0.01696
NM_000143.4(FH):c.*221_*222del rs112946286 0.01684
NM_024577.4(SH3TC2):c.*12969C>A rs76955068 0.01682
NM_030962.4(SBF2):c.3111-6T>C rs16907139 0.01676
NM_022041.4(GAN):c.*1908A>C rs11861082 0.01673
NM_014874.4(MFN2):c.*231G>A rs41278636 0.01666
NM_018319.4(TDP1):c.-230-4G>T rs28365053 0.01666
NM_016156.6(MTMR2):c.*2406C>T rs16922613 0.01655
NM_004813.4(PEX16):c.760G>C (p.Val254Leu) rs35214605 0.01652
NM_015046.7(SETX):c.*1052T>A rs12349210 0.01647
NM_001303.4(COX10):c.*1267A>G rs75844637 0.01645
NM_015046.7(SETX):c.*1288T>C rs72765812 0.01645
NM_000784.4(CYP27A1):c.888A>G (p.Gln296=) rs61733619 0.01643
NM_001376.5(DYNC1H1):c.3993C>T (p.Gly1331=) rs17540957 0.01643
NM_020631.5(PLEKHG5):c.*765T>A rs538175057 0.01642
NM_006329.4(FBLN5):c.1122C>T (p.Tyr374=) rs145515678 0.01635
NM_001370298.3(FGD4):c.1926T>C (p.Ser642=) rs60803891 0.01632
NM_021625.5(TRPV4):c.387-4C>T rs12305439 0.01630
NM_014874.4(MFN2):c.*777T>C rs112854268 0.01628
NM_020631.6(PLEKHG5):c.2594A>G (p.Gln865Arg) rs3007419 0.01628
NM_030962.4(SBF2):c.2850C>T (p.Ile950=) rs74642088 0.01620
NM_016156.6(MTMR2):c.1233G>A (p.Thr411=) rs113897932 0.01619
NM_000217.3(KCNA1):c.*4234A>G rs61907267 0.01618
NM_003001.5(SDHC):c.-38G>A rs112556972 0.01611
NM_000158.4(GBE1):c.1716C>T (p.Asp572=) rs2229520 0.01610
NM_001370298.3(FGD4):c.*2203T>C rs41276678 0.01601
NM_012073.5(CCT5):c.437A>T (p.Glu146Val) rs11557652 0.01601
NM_001127649.3(PEX26):c.-363G>C rs138787474 0.01598
NM_024577.4(SH3TC2):c.*18299C>T rs147903089 0.01595
NM_001351132.2(PEX5):c.*75G>A rs112966367 0.01593
NM_015046.7(SETX):c.3182C>T (p.Pro1061Leu) rs12352982 0.01591
NM_002047.4(GARS1):c.747T>C (p.Tyr249=) rs7808770 0.01578
NM_017929.5(PEX26):c.-148C>T rs115617644 0.01576
NM_015046.7(SETX):c.*849G>T rs74975459 0.01559
NM_001365536.1(SCN9A):c.*2540C>T rs58249489 0.01556
NM_014874.3(MFN2):c.-249T>A rs2180182 0.01549
NM_014874.3(MFN2):c.-287C>T rs2180181 0.01549
NM_001005373.4(LRSAM1):c.-316C>T rs116498902 0.01548
NM_001303.4(COX10):c.*1101C>T rs75165393 0.01548
NM_002496.4(NDUFS8):c.-45A>C rs4147776 0.01538
NM_016156.6(MTMR2):c.*1952G>A rs118033833 0.01538
NM_000530.8(MPZ):c.*624C>T rs60821801 0.01537
NM_004168.4(SDHA):c.1664-8G>A rs199790689 0.01533
NM_024577.4(SH3TC2):c.*7810T>A rs57517567 0.01532
NM_000286.3(PEX12):c.*636T>C rs111424374 0.01528
NM_000153.4(GALC):c.*801A>T rs114174103 0.01526
NM_000286.3(PEX12):c.*297T>C rs113891712 0.01526
NM_002047.4(GARS1):c.1761G>A (p.Thr587=) rs3886641 0.01523
NM_005908.4(MANBA):c.2482G>A (p.Val828Ile) rs75826658 0.01517
NM_004168.4(SDHA):c.1305G>T (p.Leu435=) rs35964044 0.01515
NM_014365.3(HSPB8):c.552C>T (p.Asn184=) rs112052602 0.01515
NM_004544.4(NDUFA10):c.*2511C>T rs74540213 0.01512
NM_030962.4(SBF2):c.*1399T>C rs60154961 0.01504
NM_030962.4(SBF2):c.*1413A>G rs59613534 0.01502
NM_004168.4(SDHA):c.-4A>G rs377134185 0.01501
NM_001113491.2(SEPTIN9):c.*1233C>T rs77195002 0.01495
NM_181882.3(PRX):c.471G>A (p.Glu157=) rs4803335 0.01488
NM_004637.6(RAB7A):c.-97C>G rs141622970 0.01485
NM_078470.6(COX15):c.*1693G>A rs74981084 0.01485
NM_001376.5(DYNC1H1):c.3909G>A (p.Ala1303=) rs34690489 0.01481
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687 0.01478
NM_022041.4(GAN):c.*1273G>C rs75176423 0.01472
NM_001370298.3(FGD4):c.1954-8T>C rs115061722 0.01466
NM_000108.5(DLD):c.*855C>T rs116055514 0.01464
NM_015046.7(SETX):c.*1224G>C rs10491906 0.01458
NM_033305.3(VPS13A):c.9027A>G (p.Pro3009=) rs17081163 0.01458
NM_000520.5(HEXA):c.-167G>A rs77707876 0.01456
NM_022041.4(GAN):c.*159C>T rs76000455 0.01456
NM_006415.4(SPTLC1):c.1255-7C>T rs7863487 0.01454
NM_001136472.2(LITAF):c.*711G>T rs117082330 0.01448
NM_001376.5(DYNC1H1):c.6221+13G>T rs17541088 0.01447
NM_015046.7(SETX):c.2975A>G (p.Lys992Arg) rs61742937 0.01445
NM_000304.4(PMP22):c.-74A>G rs114365663 0.01441
NM_002778.4(PSAP):c.*775G>A rs79662404 0.01440
NM_003630.3(PEX3):c.245A>G (p.Gln82Arg) rs35220041 0.01440
NM_004813.4(PEX16):c.*158A>C rs79435202 0.01440
NM_133259.4(LRPPRC):c.*1435C>T rs78163628 0.01439
NM_003680.3(YARS1):c.-623G>A rs59686477 0.01434
NM_002857.4(PEX19):c.*2057T>G rs56089807 0.01433
NM_078470.6(COX15):c.*1876A>G rs115287270 0.01433
NM_001365536.1(SCN9A):c.*3038C>T rs115766730 0.01421
NM_000274.4(OAT):c.-53C>T rs117824913 0.01420
NM_000520.6(HEXA):c.*575G>A rs76075374 0.01411
NM_181882.3(PRX):c.731C>T (p.Ala244Val) rs118071705 0.01410
NM_020247.5(COQ8A):c.-10+8T>C rs145688619 0.01402
NM_033305.3(VPS13A):c.*1186A>G rs3177 0.01392
NM_020247.5(COQ8A):c.993C>T (p.Phe331=) rs41303129 0.01390
NM_006096.4(NDRG1):c.*653T>C rs147301529 0.01388
NM_020631.4(PLEKHG5):c.*1313C>T rs45574533 0.01380
NM_004376.5(COX15):c.*4218C>T rs138423739 0.01377
NM_133259.4(LRPPRC):c.*1371C>T rs111381413 0.01377
NM_002857.4(PEX19):c.879T>C (p.Gly293=) rs74125561 0.01375
NM_033305.3(VPS13A):c.2391A>G (p.Pro797=) rs73466058 0.01375
NM_001370298.3(FGD4):c.*4454G>A rs147515673 0.01373
NM_004168.4(SDHA):c.1776T>C (p.His592=) rs1126538 0.01372
NM_033305.3(VPS13A):c.5747G>A (p.Ser1916Asn) rs73467962 0.01369
NM_006329.4(FBLN5):c.989+13G>A rs74071605 0.01368
NM_004565.3(PEX14):c.513C>A (p.Ala171=) rs35046754 0.01363
NM_014874.4(MFN2):c.2205-13C>A rs76020240 0.01362
NM_001136472.2(LITAF):c.*1493T>G rs77423500 0.01358
NM_001386140.1(MTTP):c.136C>G (p.Arg46Gly) rs141736123 0.01357
NM_001136472.2(LITAF):c.*933C>T rs75472256 0.01353
NM_033305.3(VPS13A):c.5802A>G (p.Leu1934=) rs73654012 0.01345
NM_001370298.3(FGD4):c.*3340A>C rs75320947 0.01342
NM_001365536.1(SCN9A):c.2827A>C (p.Met943Leu) rs12478318 0.01339
NM_006329.4(FBLN5):c.863-13C>T rs74071606 0.01336
NM_004637.6(RAB7A):c.-29G>T rs112000804 0.01334
NM_021830.5(TWNK):c.*204G>A rs61871507 0.01328
NM_004589.4(SCO1):c.297A>G (p.Ala99=) rs11538237 0.01326
NM_001351132.2(PEX5):c.-17+188T>C rs186539500 0.01324
NM_000370.3(TTPA):c.*1404G>A rs56675911 0.01322
NM_001365536.1(SCN9A):c.3004G>T (p.Val1002Leu) rs4369876 0.01322
NM_033305.3(VPS13A):c.7155G>A (p.Glu2385=) rs73449933 0.01319
NM_020312.4(COQ9):c.921+13C>T rs115677652 0.01317
NM_004082.5(DCTN1):c.1484G>A (p.Arg495Gln) rs17721059 0.01316
NM_000217.3(KCNA1):c.*2308C>G rs114342545 0.01314
NM_000466.3(PEX1):c.1671-7T>C rs74519968 0.01312
NM_001374736.1(DST):c.4062C>T (p.Val1354=) rs78600049 0.01311
NM_024577.4(SH3TC2):c.*14750A>G rs149133999 0.01302
NM_015046.7(SETX):c.6507G>A (p.Gly2169=) rs34073320 0.01300
NM_001605.3(AARS1):c.*251A>C rs116553521 0.01298
NM_016156.6(MTMR2):c.1634A>G (p.Asn545Ser) rs558018 0.01295
NM_024577.4(SH3TC2):c.*10767G>A rs139720866 0.01293
NM_001113491.2(SEPTIN9):c.*783A>G rs76051887 0.01291
NM_001122955.4(BSCL2):c.88-662C>A rs117597269 0.01291
NM_006096.4(NDRG1):c.892-5C>T rs2233346 0.01290
NM_000217.3(KCNA1):c.*3724C>T rs73050554 0.01288
NM_006415.4(SPTLC1):c.781-6A>G rs138268337 0.01288
NM_198252.3(GSN):c.538A>G (p.Asn180Asp) rs11550199 0.01287
NM_001370298.3(FGD4):c.167-61799G>C rs77113168 0.01285
NM_004082.5(DCTN1):c.1288-3C>T rs72466490 0.01285
NM_002047.4(GARS1):c.11C>T (p.Pro4Leu) rs62636572 0.01280
NM_020247.5(COQ8A):c.63G>A (p.Ala21=) rs11549709 0.01280
NM_001127649.3(PEX26):c.*464A>G rs141229564 0.01278
NM_002529.4(NTRK1):c.2047-11G>A rs79173278 0.01269
NM_000530.8(MPZ):c.*568C>G rs60731755 0.01265
NM_001365536.1(SCN9A):c.*235T>C rs140553451 0.01263
NM_000287.4(PEX6):c.1028G>A (p.Arg343Gln) rs111282915 0.01262
NM_001365536.1(SCN9A):c.*2155G>A rs77565541 0.01260
NM_004544.4(NDUFA10):c.*396C>G rs73103629 0.01256
NM_024577.4(SH3TC2):c.*4279C>G rs74578025 0.01256
NM_006096.4(NDRG1):c.306C>T (p.Gly102=) rs2233322 0.01251
NM_001127649.3(PEX26):c.*10C>T rs117472525 0.01244
NM_004863.4(SPTLC2):c.*4431G>T rs75823402 0.01241
NM_015046.7(SETX):c.*351G>T rs117409290 0.01236
NM_004863.4(SPTLC2):c.*4503A>G rs78947178 0.01233
NM_033305.3(VPS13A):c.7806+6A>G rs74810255 0.01231
NM_004863.4(SPTLC2):c.1428T>G (p.Pro476=) rs34418677 0.01229
NM_001365536.1(SCN9A):c.*204G>A rs111510277 0.01227
NM_006096.4(NDRG1):c.507G>A (p.Ala169=) rs2233331 0.01225
NM_014845.5(FIG4):c.-182G>A rs55873083 0.01220
NM_004082.5(DCTN1):c.34-11G>T rs73948789 0.01216
NM_001370298.3(FGD4):c.*1007G>A rs114843464 0.01214
NM_004544.4(NDUFA10):c.*1217A>G rs116403651 0.01210
NM_004863.4(SPTLC2):c.*1014C>T rs116563416 0.01210
NM_001370298.3(FGD4):c.*22G>A rs114284024 0.01207
NM_002778.4(PSAP):c.-10A>G rs76455588 0.01197
NM_006329.4(FBLN5):c.*326G>A rs79375113 0.01197
NM_006329.4(FBLN5):c.*329T>C rs115237925 0.01197
NM_001370658.1(BTD):c.820A>G (p.Ile274Val) rs35976361 0.01187
NM_000371.3(TTR):c.*345G>A rs58172837 0.01182
NM_001374736.1(DST):c.3492C>T (p.Asn1164=) rs79026338 0.01176
NM_002506.3(NGF):c.239G>A (p.Arg80Gln) rs11466111 0.01173
NM_020247.5(COQ8A):c.*133G>A rs149820067 0.01173
NM_000081.4(LYST):c.9C>T (p.Thr3=) rs33998267 0.01172
NM_004376.5(COX15):c.*2640T>G rs80332976 0.01155
NM_005908.4(MANBA):c.2351C>G (p.Pro784Arg) rs116340501 0.01154
NM_020631.6(PLEKHG5):c.795+8G>A rs114275646 0.01154
NM_000217.3(KCNA1):c.*1522C>G rs140297443 0.01151
NM_133259.4(LRPPRC):c.2562A>G (p.Val854=) rs4494798 0.01150
NM_014845.6(FIG4):c.*7C>T rs113946190 0.01145
NM_001034850.3(RETREG1):c.1135C>G (p.Gln379Glu) rs34432513 0.01144
NM_006096.4(NDRG1):c.*69C>T rs114738844 0.01142
NM_024577.4(SH3TC2):c.477T>A (p.Ser159=) rs77574155 0.01137
NM_001130823.3(DNMT1):c.206G>A (p.Arg69His) rs61750053 0.01134
NM_020631.5(PLEKHG5):c.*843G>T rs12735472 0.01132
NM_004544.4(NDUFA10):c.*2133A>G rs6736791 0.01130
NM_002618.4(PEX13):c.*1652G>A rs72877535 0.01126
NM_005006.7(NDUFS1):c.1371G>A (p.Ser457=) rs2230892 0.01121
NM_004168.4(SDHA):c.822C>T (p.Gly274=) rs34771391 0.01114
NM_003560.4(PLA2G6):c.*589C>G rs11570771 0.01112
NM_020247.5(COQ8A):c.1053C>T (p.Gly351=) rs55958233 0.01103
NM_001127649.3(PEX26):c.457C>G (p.Leu153Val) rs12484657 0.01096
NM_001127649.3(PEX26):c.*1778C>T rs79447039 0.01095
NM_001127649.3(PEX26):c.*1957G>A rs11913772 0.01094
NM_001351132.2(PEX5):c.1718+13A>G rs116873137 0.01093
NM_001723.7(DST):c.4289C>T (p.Ala1430Val) rs78701610 0.01093
NM_001723.7(DST):c.5485C>G (p.Gln1829Glu) rs79943354 0.01087
NM_000318.3(PEX2):c.*1601T>A rs116949534 0.01081
NM_004544.4(NDUFA10):c.*1878C>T rs80067639 0.01081
NM_002180.3(IGHMBP2):c.2439G>A (p.Ala813=) rs624147 0.01079
NM_015046.7(SETX):c.*548A>T rs139883935 0.01078
NM_181882.3(PRX):c.3218A>G (p.Glu1073Gly) rs61733451 0.01078
NM_004565.3(PEX14):c.768G>A (p.Val256=) rs36083022 0.01070
NM_181882.3(PRX):c.1483G>C (p.Glu495Gln) rs146789340 0.01068
NM_014317.4(PDSS1):c.-29C>T rs537781419 0.01066
NM_030962.4(SBF2):c.4533A>G (p.Thr1511=) rs79251068 0.01066
NM_001005361.3(DNM2):c.2484G>A (p.Pro828=) rs114682382 0.01064
NM_004863.4(SPTLC2):c.*5395C>G rs13430 0.01060
NM_024577.4(SH3TC2):c.*2237G>A rs76481943 0.01060
NM_001303.4(COX10):c.*1079G>A rs116445114 0.01056
NM_001113491.2(SEPTIN9):c.936C>T (p.Ser312=) rs3765043 0.01048
NM_012073.5(CCT5):c.*866A>C rs114441137 0.01043
NM_018319.4(TDP1):c.*799A>G rs35437984 0.01042
NM_003630.3(PEX3):c.*205C>A rs78091135 0.01040
NM_024577.4(SH3TC2):c.*14894G>A rs17109192 0.01038
NM_003172.4(SURF1):c.543C>T (p.Phe181=) rs62637580 0.01036
NM_001374736.1(DST):c.4831-3C>A rs115890942 0.01035
NM_001351132.2(PEX5):c.*960C>G rs78134587 0.01032
NM_001113491.2(SEPTIN9):c.1125-5C>T rs73377525 0.01030
NM_005908.4(MANBA):c.178-8A>G rs113584126 0.01028
NM_000284.4(PDHA1):c.*1563C>G rs7883708 0.01025
NM_000318.3(PEX2):c.*1242A>G rs73691481 0.01024
NM_001386140.1(MTTP):c.2636A>G (p.Lys879Arg) rs114049933 0.01021
NM_001113491.2(SEPTIN9):c.76+13049A>G rs140915871 0.01020
NM_000318.3(PEX2):c.*2306A>G rs59296540 0.01019
NM_000318.3(PEX2):c.*2554G>A rs116215385 0.01018
NM_004544.4(NDUFA10):c.*3544C>T rs114944621 0.01013
NM_002529.4(NTRK1):c.1331G>A (p.Arg444Gln) rs56320207 0.01010
NM_016156.6(MTMR2):c.*85A>C rs578159 0.01009
NM_005006.7(NDUFS1):c.*574T>G rs73065790 0.01005
NM_000487.6(ARSA):c.624T>C (p.His208=) rs113990230 0.01000
NM_000284.4(PDHA1):c.*1682T>C rs55744630 0.00998
NM_022041.4(GAN):c.46C>T (p.Leu16=) rs77470936 0.00993
NM_001365536.1(SCN9A):c.*958C>T rs143727895 0.00990
NM_001136472.2(LITAF):c.234G>A (p.Thr78=) rs9282774 0.00987
NM_000108.5(DLD):c.*648G>A rs57801571 0.00985
NM_000108.5(DLD):c.249T>C (p.Val83=) rs2228664 0.00985
NM_133259.4(LRPPRC):c.3595A>G (p.Asn1199Asp) rs113974315 0.00985
NM_000399.5(EGR2):c.*429G>A rs114237833 0.00979
NM_001130823.3(DNMT1):c.3939C>T (p.Gly1313=) rs142903301 0.00977
NM_002618.4(PEX13):c.*1943G>A rs183689971 0.00973
NM_001605.3(AARS1):c.2900A>T (p.Lys967Met) rs35744709 0.00971
NM_001376.5(DYNC1H1):c.12159A>T (p.Gly4053=) rs115992196 0.00962
NM_001953.5(TYMP):c.214+13G>A rs74624637 0.00960
NM_001130823.3(DNMT1):c.290A>G (p.His97Arg) rs16999593 0.00959
NM_002180.3(IGHMBP2):c.180C>T (p.Tyr60=) rs34617762 0.00959
NM_015046.7(SETX):c.-124C>T rs114850064 0.00959
NM_002529.4(NTRK1):c.53G>A (p.Gly18Glu) rs1007211 0.00957
NM_001376.5(DYNC1H1):c.7137G>A (p.Leu2379=) rs17512439 0.00956
NM_004863.4(SPTLC2):c.*3224C>T rs77200167 0.00956
NM_020312.4(COQ9):c.*545G>T rs115123016 0.00954
NM_000399.5(EGR2):c.169+10G>T rs114201658 0.00953
NM_001005361.3(DNM2):c.235+12C>A rs147026993 0.00953
NM_020631.6(PLEKHG5):c.2331C>T (p.Ser777=) rs61749272 0.00952
NM_001113491.2(SEPTIN9):c.1043-4G>A rs147213134 0.00950
NM_005138.3(SCO2):c.776C>T (p.Ala259Val) rs8139305 0.00949
NM_001374736.1(DST):c.4200A>G (p.Lys1400=) rs35715547 0.00947
NM_002529.4(NTRK1):c.288-8C>T rs80026148 0.00947
NM_133259.4(LRPPRC):c.*1343G>C rs75002669 0.00947
NM_000286.3(PEX12):c.733T>A (p.Leu245Ile) rs12941376 0.00945
NM_000108.5(DLD):c.777A>G (p.Lys259=) rs1065762 0.00944
NM_033305.3(VPS13A):c.5917G>A (p.Val1973Ile) rs41289969 0.00944
NM_000108.5(DLD):c.*1300A>G rs77095705 0.00939
NM_001034850.3(RETREG1):c.438G>A (p.Leu146=) rs61741225 0.00939
NM_021625.5(TRPV4):c.33G>T (p.Gly11=) rs56092423 0.00939
NM_000217.3(KCNA1):c.*228A>C rs142908193 0.00937
NM_001370298.3(FGD4):c.*4063A>G rs62642552 0.00933
NM_001370298.3(FGD4):c.*792A>T rs140601094 0.00932
NM_033305.3(VPS13A):c.2910A>G (p.Glu970=) rs115565179 0.00932
NM_003477.3(PDHX):c.*114A>G rs76663700 0.00931
NM_004863.4(SPTLC2):c.*3812C>T rs74730673 0.00930
NM_004544.4(NDUFA10):c.194A>G (p.Asn65Ser) rs35715497 0.00925
NM_000521.4(HEXB):c.1258A>G (p.Ile420Val) rs77499935 0.00923
NM_001005361.3(DNM2):c.1782-11C>T rs78580529 0.00921
NM_004863.4(SPTLC2):c.*1221A>G rs80244932 0.00919
NM_004863.4(SPTLC2):c.*3034C>G rs75977251 0.00919
NM_000108.5(DLD):c.1422A>C (p.Gly474=) rs34453495 0.00918
NM_078470.6(COX15):c.548G>A (p.Arg183His) rs35483721 0.00915
NM_004565.3(PEX14):c.959G>A (p.Arg320Lys) rs12070353 0.00912
NM_004565.3(PEX14):c.213C>G (p.Gly71=) rs41274482 0.00899
NM_078470.6(COX15):c.*1197T>C rs149696723 0.00897
NM_004168.4(SDHA):c.549C>T (p.Gly183=) rs61733344 0.00892
NM_014845.6(FIG4):c.1242T>C (p.Ile414=) rs61729087 0.00891
NM_024577.4(SH3TC2):c.*8533A>G rs139372772 0.00891
NM_003560.4(PLA2G6):c.1027G>A (p.Ala343Thr) rs11570680 0.00890
NM_024577.4(SH3TC2):c.*6242A>G rs142279453 0.00889
NM_024577.4(SH3TC2):c.*122G>T rs114151926 0.00888
NM_001386140.1(MTTP):c.*515G>A rs116005476 0.00885
NM_000217.3(KCNA1):c.*2123A>G rs77647135 0.00881
NM_024577.4(SH3TC2):c.*11604G>A rs143229015 0.00876
NM_001113491.2(SEPTIN9):c.*260C>T rs28364840 0.00872
NM_030962.4(SBF2):c.*177A>C rs192542785 0.00872
NM_198252.3(GSN):c.1239A>G (p.Thr413=) rs149375418 0.00861
NM_024577.4(SH3TC2):c.*8053G>A rs115027318 0.00859
NM_006096.4(NDRG1):c.*1294T>C rs144034977 0.00858
NM_020247.5(COQ8A):c.*790A>G rs12565212 0.00855
NM_024577.4(SH3TC2):c.*10864G>A rs189701174 0.00853
NM_002778.4(PSAP):c.78C>T (p.Thr26=) rs74145688 0.00850
NM_001374736.1(DST):c.4930-300A>T rs75951731 0.00849
NM_004544.4(NDUFA10):c.*407C>T rs74614612 0.00847
NM_002617.4(PEX10):c.843G>A (p.Arg281=) rs35082957 0.00846
NM_024577.4(SH3TC2):c.*12807G>A rs150317192 0.00846
NM_022041.4(GAN):c.*1268C>T rs182391687 0.00845
NM_024577.4(SH3TC2):c.*3694T>A rs115774169 0.00844
NM_014874.4(MFN2):c.*304A>G rs80118679 0.00841
NM_001113491.2(SEPTIN9):c.*373G>A rs139898898 0.00838
NM_002047.4(GARS1):c.1163G>A (p.Arg388Gln) rs17159287 0.00833
NM_000304.4(PMP22):c.-86A>C rs140650630 0.00832
NM_020631.6(PLEKHG5):c.30C>T (p.Asp10=) rs114209691 0.00830
NM_006096.4(NDRG1):c.199A>G (p.Met67Val) rs2233319 0.00829
NM_000530.8(MPZ):c.*195G>T rs150182811 0.00828
NM_030962.4(SBF2):c.*291C>T rs114604750 0.00828
NM_133259.4(LRPPRC):c.2481A>G (p.Pro827=) rs115993634 0.00825
NM_133259.4(LRPPRC):c.79C>T (p.Leu27Phe) rs116727742 0.00819
NM_033305.3(VPS13A):c.9370C>A (p.His3124Asn) rs117983287 0.00817
NM_133259.4(LRPPRC):c.*734A>G rs114517881 0.00810
NM_000217.3(KCNA1):c.*1892C>T rs146972463 0.00806
NM_000466.3(PEX1):c.1521G>C (p.Trp507Cys) rs112822975 0.00803
NM_000784.3(CYP27A1):c.-370T>C rs182545847 0.00800
NM_020631.6(PLEKHG5):c.*63C>T rs45446394 0.00800
NM_000217.3(KCNA1):c.*2005G>A rs76783799 0.00798
NM_170707.4(LMNA):c.51C>T (p.Ser17=) rs11549668 0.00797
NM_018972.4(GDAP1):c.*2298A>G rs4551344 0.00796
NM_002180.3(IGHMBP2):c.*22C>T rs80298715 0.00795
NM_004544.4(NDUFA10):c.*647C>T rs116254382 0.00794
NM_000466.3(PEX1):c.2901G>A (p.Gln967=) rs111704518 0.00792
NM_001370298.3(FGD4):c.1247+10G>T rs41276676 0.00792
NM_004813.4(PEX16):c.*65T>C rs16938413 0.00789
NM_006415.4(SPTLC1):c.*490A>G rs115637483 0.00786
NM_020631.6(PLEKHG5):c.*108G>A rs11800788 0.00786
NM_002778.3(PSAP):c.-65C>T rs145948209 0.00785
NM_000274.4(OAT):c.200-10T>C rs80313473 0.00780
NM_002778.4(PSAP):c.1452G>A (p.Ser484=) rs114389264 0.00778
NM_006158.5(NEFL):c.1407G>A (p.Glu469=) rs543609297 0.00777
NM_001351132.2(PEX5):c.998G>A (p.Arg333His) rs59209175 0.00776
NM_006158.5(NEFL):c.*1155T>G rs116881703 0.00773
NM_001376.5(DYNC1H1):c.2511A>G (p.Ala837=) rs17512054 0.00771
NM_000153.4(GALC):c.*395C>T rs3850376 0.00770
NM_001042472.3(ABHD12):c.202G>A (p.Val68Met) rs11904930 0.00770
NM_024577.4(SH3TC2):c.*16947C>T rs142551288 0.00770
NM_006308.3(HSPB3):c.199G>A (p.Gly67Ser) rs35258119 0.00768
NM_012073.5(CCT5):c.1194G>A (p.Ala398=) rs113262482 0.00768
NM_022041.4(GAN):c.*2584A>G rs117621048 0.00767
NM_078470.6(COX15):c.-23G>T rs2231678 0.00765
NM_001386140.1(MTTP):c.502G>A (p.Val168Ile) rs61750974 0.00763
NM_033305.3(VPS13A):c.228T>C (p.Thr76=) rs115443572 0.00762
NM_021625.5(TRPV4):c.1684G>A (p.Val562Ile) rs56177950 0.00760
NM_000399.5(EGR2):c.*288G>A rs117395928 0.00758
NM_000521.4(HEXB):c.214C>T (p.Leu72Phe) rs147155126 0.00758
NM_000158.4(GBE1):c.*308C>T rs141214861 0.00757
NM_001370298.3(FGD4):c.1470C>T (p.Pro490=) rs16920084 0.00752
NM_030962.4(SBF2):c.*51T>C rs41275194 0.00749
NM_001005361.3(DNM2):c.235+6A>G rs113192269 0.00748
NM_004376.6(COX15):c.-149G>T rs139698647 0.00745
NM_006158.5(NEFL):c.*1344G>A rs79034217 0.00743
NM_001042472.3(ABHD12):c.*541G>A rs41304802 0.00734
NM_021830.5(TWNK):c.-241C>T rs113159821 0.00734
NM_000370.3(TTPA):c.*578T>C rs886063065 0.00730
NM_000286.3(PEX12):c.*781T>A rs185900922 0.00728
NM_007103.3(NDUFV1):c.-74T>C rs373383800 0.00728
NM_001303.4(COX10):c.682C>T (p.Arg228Cys) rs114521946 0.00727
NM_002506.3(NGF):c.214G>A (p.Val72Met) rs11466110 0.00727
NM_004376.5(COX15):c.*2701C>T rs114201692 0.00727
NM_030962.4(SBF2):c.*1315A>C rs360125 0.00723
NM_001605.3(AARS1):c.2791G>A (p.Gly931Ser) rs149377346 0.00718
NM_021625.5(TRPV4):c.2518G>A (p.Glu840Lys) rs55728855 0.00718
NM_000487.6(ARSA):c.*992G>A rs376910590 0.00717
NM_000370.3(TTPA):c.*782C>T rs114278576 0.00716
NM_000284.4(PDHA1):c.844A>C (p.Met282Leu) rs2229137 0.00715
NM_003680.4(YARS1):c.*681T>G rs78319035 0.00714
NM_004863.4(SPTLC2):c.*1729G>A rs143610997 0.00712
NM_002180.3(IGHMBP2):c.2782G>A (p.Glu928Lys) rs2275996 0.00707
NM_024577.4(SH3TC2):c.*4052T>C rs147125913 0.00707
NM_004544.4(NDUFA10):c.*1453G>A rs192964209 0.00706
NM_078470.6(COX15):c.*1591C>T rs190369277 0.00705
NM_001365536.1(SCN9A):c.-294T>C rs141521157 0.00704
NM_078470.6(COX15):c.*1590A>C rs181768654 0.00704
NM_018972.4(GDAP1):c.*561C>G rs80136809 0.00699
NM_001386140.1(MTTP):c.*267A>C rs79992570 0.00692
NM_003560.4(PLA2G6):c.2340C>T (p.Asn780=) rs138683183 0.00691
NM_002618.4(PEX13):c.674A>G (p.Asp225Gly) rs116059308 0.00690
NM_014365.3(HSPB8):c.*581G>A rs56754798 0.00690
NM_014874.4(MFN2):c.957C>T (p.Gly319=) rs41278632 0.00690
NM_001127649.3(PEX26):c.*2162G>A rs45489191 0.00688
NM_000287.4(PEX6):c.1646C>T (p.Ala549Val) rs115960224 0.00687
NM_002047.4(GARS1):c.*73A>G rs113598818 0.00687
NM_030962.4(SBF2):c.1173A>G (p.Ala391=) rs79470805 0.00687
NM_000287.4(PEX6):c.2936C>T (p.Ala979Val) rs115180949 0.00686
NM_002617.4(PEX10):c.685G>C (p.Val229Leu) rs139345520 0.00686
NM_001127649.3(PEX26):c.130C>T (p.Leu44Phe) rs150895887 0.00683
NM_021625.5(TRPV4):c.1341C>T (p.His447=) rs57316123 0.00683
NM_000287.4(PEX6):c.210G>A (p.Gly70=) rs398123304 0.00678
NM_006415.4(SPTLC1):c.*1170T>C rs112076327 0.00675
NM_000153.4(GALC):c.1302C>T (p.Ser434=) rs3213918 0.00674
NM_000784.4(CYP27A1):c.-6C>T rs199891090 0.00673
NM_021625.5(TRPV4):c.2433G>C (p.Ser811=) rs34071623 0.00673
NM_033305.3(VPS13A):c.8676C>T (p.Ile2892=) rs117485827 0.00672
NM_001370658.1(BTD):c.585C>T (p.Leu195=) rs145388314 0.00669
NM_000108.5(DLD):c.34G>A (p.Ala12Thr) rs75077312 0.00666
NM_006415.4(SPTLC1):c.*124A>G rs189582528 0.00666
NM_004863.4(SPTLC2):c.*4039T>C rs117131683 0.00665
NM_001113491.2(SEPTIN9):c.*479C>A rs28364841 0.00664
NM_000530.8(MPZ):c.*1048A>T rs71639057 0.00663
NM_000217.3(KCNA1):c.*2080G>A rs147644839 0.00661
NM_000274.4(OAT):c.-30+8C>T rs552799531 0.00661
NM_020247.5(COQ8A):c.*727C>T rs16846762 0.00659
NM_000153.4(GALC):c.1788C>T (p.Phe596=) rs115018138 0.00658
NM_001370298.3(FGD4):c.*290G>A rs79732949 0.00658
NM_020247.5(COQ8A):c.655+9G>A rs146526153 0.00658
NM_000217.3(KCNA1):c.*1577A>T rs79432803 0.00657
NM_000153.4(GALC):c.195+10A>G rs191767015 0.00653
NM_024577.4(SH3TC2):c.*15489G>A rs115194965 0.00652
NM_033305.3(VPS13A):c.8472-12C>T rs115077471 0.00651
NM_002617.4(PEX10):c.318G>A (p.Leu106=) rs146452560 0.00649
NM_001605.3(AARS1):c.1404C>T (p.Tyr468=) rs117598688 0.00646
NM_001351132.2(PEX5):c.1632G>A (p.Ala544=) rs115338343 0.00644
NM_004082.5(DCTN1):c.3529+5G>A rs72466494 0.00644
NM_181882.3(PRX):c.2469G>A (p.Ala823=) rs61733450 0.00644
NM_033305.3(VPS13A):c.5625A>G (p.Leu1875=) rs146280301 0.00643
NM_001034850.3(RETREG1):c.379C>T (p.Arg127Cys) rs78314670 0.00642
NM_002047.2(GARS1):c.-225G>A rs148593022 0.00641
NM_033305.3(VPS13A):c.7053T>C (p.Ala2351=) rs139753431 0.00641
NM_000925.3(PDHB):c.-26G>A rs201243189 0.00640
NM_018319.4(TDP1):c.911G>A (p.Arg304Gln) rs34452707 0.00640
NM_018319.4(TDP1):c.1098A>G (p.Gln366=) rs34563565 0.00639
NM_033305.3(VPS13A):c.3813-15T>C rs145835861 0.00639
NM_000108.5(DLD):c.*1145A>T rs143750422 0.00638
NM_170707.4(LMNA):c.612G>A (p.Leu204=) rs12117552 0.00637
NM_001374736.1(DST):c.2520A>C (p.Ser840=) rs139336917 0.00635
NM_133259.4(LRPPRC):c.58C>T (p.Leu20Phe) rs184339274 0.00631
NM_001005361.3(DNM2):c.1196+773C>T rs150975494 0.00628
NM_014874.4(MFN2):c.2113G>A (p.Val705Ile) rs142271930 0.00621
NM_018319.4(TDP1):c.302C>T (p.Pro101Leu) rs35455108 0.00620
NM_018972.4(GDAP1):c.*444A>G rs113377784 0.00620
NM_181882.3(PRX):c.4044G>C (p.Gly1348=) rs76088917 0.00620
NM_000287.4(PEX6):c.2770G>T (p.Ala924Ser) rs34551839 0.00619
NM_001386140.1(MTTP):c.*588A>G rs184236038 0.00619
NM_024577.4(SH3TC2):c.*6470T>C rs185164450 0.00616
NM_033305.3(VPS13A):c.9400-15A>C rs117688596 0.00615
NM_000081.4(LYST):c.10941-7C>A rs72761794 0.00614
NM_005006.7(NDUFS1):c.-75A>G rs138818421 0.00612
NM_006308.3(HSPB3):c.355A>G (p.Lys119Glu) rs41270303 0.00612
NM_018972.4(GDAP1):c.*1162T>C rs113017051 0.00611
NM_000318.3(PEX2):c.*319A>G rs78045204 0.00610
NM_022041.4(GAN):c.1239C>T (p.Ile413=) rs61740238 0.00609
NM_001370298.3(FGD4):c.*4192G>T rs77065831 0.00605
NM_002617.4(PEX10):c.-52_-51del rs570192538 0.00605
NM_000158.4(GBE1):c.176T>C (p.Ile59Thr) rs28763904 0.00604
NM_015046.7(SETX):c.59G>A (p.Arg20His) rs79740039 0.00602
NM_002180.3(IGHMBP2):c.256+9G>A rs118015540 0.00600
NM_000143.4(FH):c.53C>T (p.Pro18Leu) rs201887750 0.00597
NM_000521.4(HEXB):c.1051T>C (p.Leu351=) rs114661695 0.00596
NM_004168.4(SDHA):c.17G>A (p.Gly6Asp) rs187964306 0.00596
NM_001605.3(AARS1):c.1685C>T (p.Thr562Ile) rs148355156 0.00591
NM_002180.3(IGHMBP2):c.*744G>A rs116625875 0.00591
NM_002529.4(NTRK1):c.2272G>A (p.Ala758Thr) rs62640939 0.00591
NM_014874.4(MFN2):c.744C>T (p.Leu248=) rs61733205 0.00591
NM_007103.4(NDUFV1):c.326+12G>A rs184136353 0.00588
NM_024577.4(SH3TC2):c.645C>T (p.Ser215=) rs80227512 0.00587
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg) rs142645936 0.00585
NM_024577.4(SH3TC2):c.*15061C>T rs115722370 0.00585
NM_174889.5(NDUFAF2):c.300A>T (p.Ile100=) rs191388646 0.00585
NM_000287.4(PEX6):c.813G>T (p.Ala271=) rs35503676 0.00583
NM_000081.4(LYST):c.7059+7G>A rs111764031 0.00582
NM_000466.3(PEX1):c.3720C>T (p.His1240=) rs34825053 0.00582
NM_021625.5(TRPV4):c.810G>A (p.Gly270=) rs147558344 0.00582
NM_033305.3(VPS13A):c.3645C>A (p.Ala1215=) rs138687767 0.00582
NM_000081.4(LYST):c.6812A>G (p.Asp2271Gly) rs112601869 0.00580
NM_003630.3(PEX3):c.*958T>C rs41285019 0.00578
NM_001365536.1(SCN9A):c.*377C>G rs115464654 0.00575
NM_004863.4(SPTLC2):c.*4276G>A rs116794186 0.00575
NM_001365536.1(SCN9A):c.554G>A (p.Arg185His) rs73969684 0.00574
NM_003477.3(PDHX):c.976G>C (p.Val326Leu) rs35560997 0.00574
NM_033305.3(VPS13A):c.6410A>G (p.Glu2137Gly) rs114232513 0.00574
NM_001005373.4(LRSAM1):c.1368G>A (p.Ala456=) rs34426300 0.00573
NM_002778.4(PSAP):c.*122C>G rs113284884 0.00572
NM_001195248.2(APTX):c.*806G>A rs113556331 0.00570
NM_004544.4(NDUFA10):c.712G>A (p.Glu238Lys) rs35462421 0.00570
NM_015046.7(SETX):c.*319C>T rs1056912 0.00570
NM_000108.5(DLD):c.*887T>C rs16872396 0.00569
NM_000158.4(GBE1):c.118C>A (p.Pro40Thr) rs35196441 0.00569
NM_000521.4(HEXB):c.276C>T (p.Thr92=) rs140509633 0.00569
NM_001540.4(HSPB1):c.-46C>T rs35907174 0.00569
NM_181882.3(PRX):c.133C>G (p.Arg45Gly) rs115090201 0.00569
NM_001605.3(AARS1):c.64G>A (p.Glu22Lys) rs151091410 0.00568
NM_020247.5(COQ8A):c.291C>T (p.Ser97=) rs111529228 0.00567
NM_024577.4(SH3TC2):c.*16395G>T rs116508083 0.00567
NM_020631.6(PLEKHG5):c.*27T>C rs117494970 0.00566
NM_021625.5(TRPV4):c.*423G>A rs151286044 0.00565
NM_000217.3(KCNA1):c.*786G>A rs148607588 0.00564
NM_002529.4(NTRK1):c.1728C>T (p.Phe576=) rs6335 0.00563
NM_002529.4(NTRK1):c.2202G>A (p.Thr734=) rs55668752 0.00562
NM_001365536.1(SCN9A):c.*2323G>T rs142172527 0.00561
NM_000081.4(LYST):c.8898T>C (p.Tyr2966=) rs144475533 0.00560
NM_000784.4(CYP27A1):c.921G>A (p.Val307=) rs147975335 0.00559
NM_033305.3(VPS13A):c.5673G>A (p.Ser1891=) rs114699935 0.00559
NM_001370298.3(FGD4):c.1143G>A (p.Ser381=) rs34555341 0.00555
NM_024577.4(SH3TC2):c.*12190G>A rs116091693 0.00555
NM_002617.4(PEX10):c.332T>C (p.Leu111Pro) rs35426403 0.00554
NM_001130823.3(DNMT1):c.1500C>T (p.Ala500=) rs75443147 0.00552
NM_001034850.3(RETREG1):c.*235C>A rs144074026 0.00551
NM_181882.3(PRX):c.1281C>T (p.Ile427=) rs76960467 0.00551
NM_001005361.3(DNM2):c.*47G>A rs367938944 0.00550
NM_001130823.3(DNMT1):c.2382-4C>T rs74505694 0.00548
NM_001376.5(DYNC1H1):c.7410G>A (p.Ala2470=) rs139109090 0.00548
NM_004565.3(PEX14):c.504G>A (p.Thr168=) rs146781531 0.00548
NM_030962.4(SBF2):c.4096C>T (p.Pro1366Ser) rs115927577 0.00548
NM_021625.5(TRPV4):c.1153-10C>T rs149541389 0.00547
NM_000158.4(GBE1):c.143+11A>C rs145918282 0.00545
NM_000182.5(HADHA):c.*561C>T rs115151034 0.00544
NM_006329.4(FBLN5):c.*423T>C rs17731705 0.00543
NM_018319.4(TDP1):c.*1105A>G rs34815305 0.00542
NM_021625.5(TRPV4):c.1744C>T (p.Leu582=) rs35078611 0.00542
NM_002180.3(IGHMBP2):c.1538-8C>G rs115320302 0.00540
NM_003477.3(PDHX):c.1331G>A (p.Arg444Lys) rs34398018 0.00536
NM_002857.3(PEX19):c.-14T>G rs2301297 0.00535
NM_024577.4(SH3TC2):c.*10101C>T rs552099019 0.00533
NM_033305.3(VPS13A):c.4760A>G (p.Tyr1587Cys) rs149840356 0.00532
NM_000108.5(DLD):c.*1074C>G rs149275540 0.00531
NM_014365.3(HSPB8):c.535G>C (p.Glu179Gln) rs74740454 0.00531
NM_024577.4(SH3TC2):c.*10099A>T rs570266229 0.00531
NM_000158.4(GBE1):c.2017G>A (p.Ala673Thr) rs193074572 0.00529
NM_001351132.2(PEX5):c.*81A>C rs183460108 0.00529
NM_001386140.1(MTTP):c.*796C>T rs551084925 0.00527
NM_001113491.2(SEPTIN9):c.76+12730G>T rs138208028 0.00526
NM_001370298.3(FGD4):c.1971C>T (p.Ile657=) rs61748364 0.00526
NM_024577.4(SH3TC2):c.*10052C>T rs113802539 0.00525
NM_001127649.3(PEX26):c.*2311G>T rs74714634 0.00524
NM_000318.3(PEX2):c.*1842G>C rs184573256 0.00523
NM_001005373.4(LRSAM1):c.1044-9T>C rs59501881 0.00523
NM_001127649.3(PEX26):c.*925A>G rs115277831 0.00523
NM_002617.4(PEX10):c.6C>G (p.Ala2=) rs112471479 0.00523
NM_024577.4(SH3TC2):c.2087A>G (p.His696Arg) rs17109261 0.00521
NM_002180.3(IGHMBP2):c.741C>T (p.Ala247=) rs76707931 0.00520
NM_001723.7(DST):c.7491G>A (p.Lys2497=) rs145891100 0.00518
NM_002180.3(IGHMBP2):c.1104C>T (p.Tyr368=) rs148157556 0.00517
NM_003172.4(SURF1):c.604G>C (p.Asp202His) rs72619327 0.00517
NM_033305.3(VPS13A):c.8228A>C (p.Lys2743Thr) rs138308486 0.00517
NM_014317.5(PDSS1):c.407T>G (p.Phe136Cys) rs77826284 0.00516
NM_015046.7(SETX):c.-107C>T rs190832998 0.00516
NM_024577.4(SH3TC2):c.*19270G>A rs149188140 0.00516
NM_001113491.2(SEPTIN9):c.1573+9C>T rs148975193 0.00515
NM_018972.4(GDAP1):c.*2244T>C rs113763295 0.00513
NM_001351132.2(PEX5):c.*20G>C rs145760932 0.00512
NM_018972.4(GDAP1):c.*723G>A rs116863614 0.00512
NM_000217.3(KCNA1):c.*3840G>A rs148103166 0.00509
NM_198252.3(GSN):c.382G>A (p.Val128Met) rs41305623 0.00507
NM_002047.4(GARS1):c.*67C>G rs142498676 0.00506
NM_002180.3(IGHMBP2):c.151C>G (p.Gln51Glu) rs117061430 0.00506
NM_018972.4(GDAP1):c.*920C>G rs6982840 0.00506
NM_000487.6(ARSA):c.-330C>T rs558023516 0.00504
NM_001370298.3(FGD4):c.*2487C>A rs188600194 0.00503
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00501
NM_000182.5(HADHA):c.*331T>C rs189483687 0.00500
NM_000784.4(CYP27A1):c.524C>T (p.Thr175Met) rs2229381 0.00498
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser) rs141268327 0.00496
NM_001376.5(DYNC1H1):c.11765C>T (p.Pro3922Leu) rs141696238 0.00495
NM_003630.3(PEX3):c.*220G>A rs117247312 0.00495
NM_024577.4(SH3TC2):c.*2862G>A rs116548620 0.00495
NM_002180.3(IGHMBP2):c.1939G>A (p.Val647Ile) rs77822399 0.00494
NM_006158.5(NEFL):c.667C>T (p.Leu223=) rs60156239 0.00494
NM_024577.4(SH3TC2):c.2691C>G (p.Asn897Lys) rs73795753 0.00494
NM_000286.3(PEX12):c.102A>T (p.Arg34Ser) rs147530802 0.00493
NM_024577.4(SH3TC2):c.*10120C>A rs13355933 0.00493
NM_024577.4(SH3TC2):c.*47C>T rs79738100 0.00493
NM_004863.4(SPTLC2):c.*2375C>T rs147416393 0.00492
NM_016156.6(MTMR2):c.547G>T (p.Ala183Ser) rs142155860 0.00492
NM_004863.4(SPTLC2):c.*3526A>T rs530009301 0.00491
NM_012073.5(CCT5):c.1086C>G (p.Ile362Met) rs141675330 0.00491
NM_024577.4(SH3TC2):c.*7251A>G rs73795731 0.00491
NM_030962.4(SBF2):c.-118G>T rs563422015 0.00491
NM_030962.4(SBF2):c.645T>C (p.Phe215=) rs148187321 0.00491
NM_000318.3(PEX2):c.*1040C>G rs139337482 0.00490
NM_024577.4(SH3TC2):c.*13514A>G rs78516040 0.00490
NM_000274.4(OAT):c.-38C>T rs9422945 0.00489
NM_000520.5(HEXA):c.-59G>A rs147174351 0.00489
NM_001351132.2(PEX5):c.*1097T>C rs116107198 0.00489
NM_020247.5(COQ8A):c.1185C>T (p.Ile395=) rs17849927 0.00488
NM_033305.3(VPS13A):c.9150G>A (p.Pro3050=) rs143089318 0.00488
NM_033305.3(VPS13A):c.5979C>T (p.Arg1993=) rs41289971 0.00487
NM_000287.4(PEX6):c.330C>G (p.Thr110=) rs140486558 0.00486
NM_001540.5(HSPB1):c.36G>T (p.Arg12=) rs145369859 0.00486
NM_000081.4(LYST):c.5518T>G (p.Ser1840Ala) rs115330112 0.00485
NM_002778.4(PSAP):c.204C>T (p.Asp68=) rs143981174 0.00484
NM_015046.7(SETX):c.4755T>G (p.Pro1585=) rs151237267 0.00484
NM_018972.4(GDAP1):c.*61C>T rs73345399 0.00483
NM_000108.5(DLD):c.*474T>C rs16872391 0.00479
NM_000217.3(KCNA1):c.*127A>C rs116918891 0.00476
NM_001136472.2(LITAF):c.*99C>T rs149712652 0.00476
NM_000081.4(LYST):c.-5C>T rs141317482 0.00475
NM_001370298.3(FGD4):c.*27G>A rs150192477 0.00475
NM_002496.4(NDUFS8):c.255G>A (p.Pro85=) rs144125742 0.00475
NM_004863.4(SPTLC2):c.*2699C>A rs142877874 0.00475
NM_004544.3(NDUFA10):c.-92C>T rs559797625 0.00474
NM_033305.3(VPS13A):c.*1458T>G rs139050715 0.00474
NM_133259.4(LRPPRC):c.*399G>A rs149268737 0.00473
NM_015046.7(SETX):c.2672T>C (p.Val891Ala) rs148181729 0.00470
NM_024577.4(SH3TC2):c.*1246G>A rs142628780 0.00469
NM_020631.4(PLEKHG5):c.*1052G>A rs148036862 0.00467
NM_004863.4(SPTLC2):c.*4478C>A rs145218669 0.00466
NM_018972.4(GDAP1):c.*1819T>C rs141157275 0.00466
NM_024577.4(SH3TC2):c.*6600T>C rs115541211 0.00464
NM_020631.6(PLEKHG5):c.691G>A (p.Gly231Ser) rs146651455 0.00463
NM_024577.4(SH3TC2):c.*20512C>A rs76577532 0.00463
NM_001303.4(COX10):c.*305A>G rs143758001 0.00462
NM_004082.5(DCTN1):c.586A>G (p.Ile196Val) rs55862001 0.00462
NM_014845.6(FIG4):c.66+10C>T rs200063827 0.00462
NM_024577.4(SH3TC2):c.2913C>T (p.Ser971=) rs13436308 0.00462
NM_000108.5(DLD):c.543A>T (p.Ile181=) rs61749952 0.00461
NM_001365536.1(SCN9A):c.2517+6C>T rs145316463 0.00460
NM_004544.3(NDUFA10):c.-93G>T rs577432343 0.00460
NM_005006.7(NDUFS1):c.*341A>G rs150214409 0.00460
NM_021830.5(TWNK):c.*455C>T rs148810959 0.00460
NM_004168.4(SDHA):c.*249T>C rs189989110 0.00459
NM_004863.4(SPTLC2):c.*1440G>T rs116702345 0.00458
NM_001365536.1(SCN9A):c.*2662G>A rs149873320 0.00457
NM_001370298.3(FGD4):c.*3367G>T rs188648275 0.00457
NM_006329.4(FBLN5):c.502+15G>C rs190933127 0.00456
NM_181882.3(PRX):c.1216G>A (p.Ala406Thr) rs117336941 0.00456
NM_004863.4(SPTLC2):c.1664C>T (p.Thr555Met) rs138652708 0.00454
NM_021830.5(TWNK):c.-650A>G rs187213541 0.00454
NM_015046.7(SETX):c.*475A>C rs60760878 0.00452
NM_001376.5(DYNC1H1):c.11685C>T (p.Thr3895=) rs17541519 0.00451
NM_004565.3(PEX14):c.795A>G (p.Ser265=) rs41274484 0.00451
NM_000182.5(HADHA):c.1981C>T (p.Leu661=) rs142348718 0.00450
NM_001376.5(DYNC1H1):c.46T>C (p.Leu16=) rs2273437 0.00449
NM_004863.4(SPTLC2):c.*3274C>T rs114274991 0.00449
NM_001376.5(DYNC1H1):c.2625G>A (p.Ser875=) rs17512082 0.00448
NM_002617.4(PEX10):c.*686C>G rs41310349 0.00448
NM_001376.5(DYNC1H1):c.7632A>G (p.Glu2544=) rs17512460 0.00447
NM_003680.3(YARS1):c.-539G>T rs114349735 0.00447
NM_022124.6(CDH23):c.9758A>C (p.Asp3253Ala) rs140463385 0.00447
NM_001376.5(DYNC1H1):c.-53G>A rs2273436 0.00446
NM_001376.5(DYNC1H1):c.-5A>G rs17511858 0.00446
NM_003630.3(PEX3):c.-4A>G rs116692495 0.00446
NM_198252.3(GSN):c.196+7C>T rs146379508 0.00444
NM_020631.6(PLEKHG5):c.2581C>T (p.Arg861Cys) rs148560273 0.00443
NM_020631.6(PLEKHG5):c.440-6A>G rs202049535 0.00443
NM_004863.4(SPTLC2):c.*397G>T rs140766311 0.00442
NM_000081.4(LYST):c.10800+4G>T rs41308172 0.00441
NM_000217.3(KCNA1):c.*4635G>C rs1045892 0.00438
NM_000520.6(HEXA):c.673-13T>C rs75211071 0.00438
NM_002047.2(GARS1):c.-177T>C rs78980639 0.00437
NM_000284.4(PDHA1):c.*1869G>C rs15943 0.00434
NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr) rs151117904 0.00431
NM_004168.4(SDHA):c.969C>T (p.Gly323=) rs142849100 0.00430
NM_004863.4(SPTLC2):c.506G>C (p.Gly169Ala) rs75565823 0.00430
NM_018319.4(TDP1):c.*598G>A rs34083314 0.00430
NM_002857.4(PEX19):c.771+3A>G rs141133579 0.00429
NM_014874.4(MFN2):c.*1034C>T rs56333319 0.00427
NM_033305.3(VPS13A):c.3083A>G (p.Glu1028Gly) rs148656796 0.00425
NM_018319.4(TDP1):c.1317+11G>A rs36009827 0.00423
NM_001113491.2(SEPTIN9):c.1574-10C>T rs192537441 0.00421
NM_002180.3(IGHMBP2):c.1821C>T (p.His607=) rs34658653 0.00420
NM_022124.6(CDH23):c.*361C>A rs115033851 0.00420
NM_024577.4(SH3TC2):c.*16169G>A rs191600511 0.00417
NM_033305.3(VPS13A):c.2037+8C>A rs41289961 0.00417
NM_000081.4(LYST):c.6482A>C (p.Glu2161Ala) rs147756847 0.00416
NM_002618.4(PEX13):c.*2356T>C rs139999174 0.00416
NM_000286.3(PEX12):c.*509T>G rs192370696 0.00415
NM_005908.4(MANBA):c.*521G>A rs138999320 0.00415
NM_022041.4(GAN):c.*1113G>A rs114880082 0.00415
NM_020354.5(ENTPD7):c.*4789T>C rs148302095 0.00414
NM_133259.4(LRPPRC):c.1529C>G (p.Ala510Gly) rs115693730 0.00414
NM_018319.4(TDP1):c.1705A>G (p.Thr569Ala) rs35973343 0.00413
NM_000182.5(HADHA):c.1690-6G>A rs111662358 0.00412
NM_015046.7(SETX):c.3663G>C (p.Lys1221Asn) rs12344006 0.00412
NM_014845.6(FIG4):c.808A>G (p.Thr270Ala) rs61729092 0.00411
NM_020631.6(PLEKHG5):c.1254C>G (p.Pro418=) rs139904931 0.00411
NM_014317.5(PDSS1):c.162+13A>G rs12571799 0.00410
NM_001370298.3(FGD4):c.*3676A>G rs189489067 0.00409
NM_002617.4(PEX10):c.*676C>T rs77863194 0.00408
NM_014845.6(FIG4):c.*14C>T rs114136062 0.00408
NM_024577.4(SH3TC2):c.1403C>T (p.Ala468Val) rs6874630 0.00407
NM_002529.4(NTRK1):c.2339G>A (p.Arg780Gln) rs35669708 0.00406
NM_000182.5(HADHA):c.68-10T>G rs144414842 0.00403
NM_002180.3(IGHMBP2):c.*425G>A rs144205786 0.00401
NM_016156.6(MTMR2):c.*1684A>C rs79576160 0.00401
NM_024577.4(SH3TC2):c.*3430T>A rs184043381 0.00400
NM_001370298.3(FGD4):c.*1564T>C rs77836862 0.00399
NM_004863.4(SPTLC2):c.1176+7G>A rs74063297 0.00399
NM_015046.7(SETX):c.7371T>C (p.His2457=) rs113071480 0.00399
NM_014845.6(FIG4):c.27C>T (p.Ile9=) rs141040807 0.00398
NM_000521.4(HEXB):c.*40A>C rs184908092 0.00397
NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys) rs149694033 0.00397
NM_004637.6(RAB7A):c.*163T>G rs182521602 0.00395
NM_000081.4(LYST):c.1686G>C (p.Gln562His) rs77091385 0.00394
NM_004863.4(SPTLC2):c.*5892C>A rs140576195 0.00392
NM_133259.4(LRPPRC):c.*343C>T rs144519599 0.00392
NM_016156.6(MTMR2):c.570+11T>C rs182582445 0.00390
NM_024577.4(SH3TC2):c.3362C>T (p.Ala1121Val) rs115577291 0.00390
NM_001386140.1(MTTP):c.2043G>A (p.Glu681=) rs145444300 0.00389
NM_012073.5(CCT5):c.*320T>C rs186512015 0.00389
NM_000158.4(GBE1):c.839G>A (p.Gly280Asp) rs28763902 0.00388
NM_022041.4(GAN):c.1684C>G (p.Pro562Ala) rs79901179 0.00388
NM_024577.4(SH3TC2):c.*8277G>A rs147532508 0.00387
NM_001365536.1(SCN9A):c.1398C>T (p.Ser466=) rs201531206 0.00386
NM_022124.6(CDH23):c.*515C>A rs16929375 0.00385
NM_001370658.1(BTD):c.*211G>A rs78601074 0.00384
NM_001127649.3(PEX26):c.815-13C>T rs139370593 0.00381
NM_001376.5(DYNC1H1):c.4854T>C (p.Tyr1618=) rs75094258 0.00381
NM_078470.6(COX15):c.*3247T>C rs74775778 0.00380
NM_000284.4(PDHA1):c.831+15C>T rs190157093 0.00379
NM_022124.6(CDH23):c.9510+13C>T rs183692794 0.00379
NM_198252.3(GSN):c.1680C>T (p.Ser560=) rs73660439 0.00379
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_001130823.3(DNMT1):c.2463C>T (p.Leu821=) rs61750051 0.00377
NM_002617.4(PEX10):c.*595G>A rs72924937 0.00377
NM_012073.5(CCT5):c.*1400A>G rs140380065 0.00377
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723 0.00376
NM_198252.3(GSN):c.664-4A>G rs143590302 0.00376
NM_002529.4(NTRK1):c.16C>T (p.Arg6Trp) rs201472270 0.00373
NM_000318.3(PEX2):c.*2443A>G rs76770837 0.00372
NM_024577.4(SH3TC2):c.*3061A>G rs138823547 0.00372
NM_001370298.3(FGD4):c.*2103A>G rs55963204 0.00370
NM_005006.7(NDUFS1):c.*426T>G rs114402169 0.00369
NM_005006.7(NDUFS1):c.1062C>T (p.Leu354=) rs112026097 0.00369
NM_174889.5(NDUFAF2):c.451G>A (p.Gly151Ser) rs9885480 0.00369
NM_000153.4(GALC):c.1006G>A (p.Val336Met) rs185073540 0.00368
NM_018972.4(GDAP1):c.*1006C>T rs145523828 0.00367
NM_000304.4(PMP22):c.*912G>A rs149070440 0.00366
NM_001005361.3(DNM2):c.2543+7C>G rs201979143 0.00364
NM_002047.2(GARS1):c.-280G>A rs73294431 0.00364
NM_000287.4(PEX6):c.1071A>G (p.Leu357=) rs116318004 0.00363
NM_000318.3(PEX2):c.*789C>T rs144050052 0.00361
NM_001005361.3(DNM2):c.236-8C>G rs143084059 0.00361
NM_022041.4(GAN):c.*372G>A rs79192026 0.00361
NM_024577.4(SH3TC2):c.*6051G>A rs146293131 0.00361
NM_001005361.3(DNM2):c.519T>C (p.Ala173=) rs77702567 0.00359
NM_198252.3(GSN):c.1850G>T (p.Arg617Leu) rs9696578 0.00359
NM_000487.6(ARSA):c.1002C>T (p.Ser334=) rs147027229 0.00358
NM_001370298.3(FGD4):c.*2813C>T rs148195158 0.00358
NM_000784.3(CYP27A1):c.-205C>A rs187723732 0.00357
NM_001113491.2(SEPTIN9):c.*1900A>G rs180847518 0.00357
NM_002047.4(GARS1):c.803C>T (p.Thr268Ile) rs2230310 0.00357
NM_002529.4(NTRK1):c.428+12C>A rs41267425 0.00357
NM_014874.4(MFN2):c.975C>T (p.Gly325=) rs141475476 0.00357
NM_022041.4(GAN):c.1182C>T (p.Tyr394=) rs150102659 0.00357
NM_024577.4(SH3TC2):c.*21786G>A rs6890482 0.00357
NM_198252.3(GSN):c.1288C>T (p.Arg430Cys) rs116185403 0.00357
NM_006158.5(NEFL):c.*101A>G rs34505194 0.00356
NM_012073.5(CCT5):c.*670T>A rs114402073 0.00354
NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val) rs78042826 0.00353
NM_012073.5(CCT5):c.1059G>A (p.Leu353=) rs114634318 0.00353
NM_000217.3(KCNA1):c.*2245C>G rs76258625 0.00350
NM_002617.4(PEX10):c.621C>G (p.Pro207=) rs140107510 0.00350
NM_014317.5(PDSS1):c.*3A>G rs115180525 0.00350
NM_001723.7(DST):c.3336G>C (p.Glu1112Asp) rs34767818 0.00349
NM_133259.4(LRPPRC):c.*1335T>C rs76970610 0.00348
NM_003680.4(YARS1):c.*284A>G rs150690731 0.00347
NM_015046.7(SETX):c.472T>G (p.Leu158Val) rs145438764 0.00347
NM_002618.4(PEX13):c.-6G>C rs147461642 0.00345
NM_000318.3(PEX2):c.*1174A>G rs562263817 0.00343
NM_001005373.4(LRSAM1):c.1975G>A (p.Val659Met) rs140786088 0.00342
NM_001113491.2(SEPTIN9):c.*709C>T rs146084702 0.00342
NM_004376.5(COX15):c.*3564C>T rs12241912 0.00342
NM_033305.3(VPS13A):c.2667+12G>A rs199995355 0.00342
NM_001303.4(COX10):c.*1324C>T rs75636595 0.00341
NM_001365536.1(SCN9A):c.2190G>C (p.Trp730Cys) rs202055175 0.00341
NM_004376.5(COX15):c.*3618A>G rs76656125 0.00341
NM_004637.6(RAB7A):c.495G>A (p.Ala165=) rs146566121 0.00341
NM_014874.4(MFN2):c.*1830C>T rs74609163 0.00341
NM_022124.6(CDH23):c.9903C>T (p.Pro3301=) rs55717455 0.00341
NM_004376.5(COX15):c.*2842T>C rs11190252 0.00339
NM_033305.3(VPS13A):c.101-7T>C rs190684534 0.00338
NM_012073.5(CCT5):c.*487C>T rs144767471 0.00337
NM_024577.4(SH3TC2):c.*6301C>T rs188143654 0.00337
NM_024577.4(SH3TC2):c.3294C>T (p.Thr1098=) rs193067884 0.00337
NM_001540.5(HSPB1):c.9G>A (p.Glu3=) rs77586767 0.00336
NM_024577.4(SH3TC2):c.*18606T>G rs182775401 0.00336
NM_001365536.1(SCN9A):c.*3426A>T rs186838828 0.00334
NM_020631.6(PLEKHG5):c.1724C>T (p.Pro575Leu) rs77134982 0.00334
NM_024577.4(SH3TC2):c.*5689A>C rs537285537 0.00334
NM_001376.5(DYNC1H1):c.13219-9C>T rs17541650 0.00332
NM_018319.3(TDP1):c.-292G>T rs577403021 0.00332
NM_181882.3(PRX):c.3802G>C (p.Ala1268Pro) rs146061247 0.00332
NM_001042465.2(PSAP):c.-118G>A rs28365838 0.00331
NM_024577.4(SH3TC2):c.*12550A>G rs137953180 0.00330
NM_001351132.2(PEX5):c.*114C>T rs187571620 0.00329
NM_024577.4(SH3TC2):c.*5368C>T rs189202481 0.00329
NM_001005373.4(LRSAM1):c.965A>G (p.Gln322Arg) rs56380300 0.00328
NM_001005361.3(DNM2):c.*671T>C rs190696940 0.00325
NM_000153.4(GALC):c.96G>T (p.Leu32=) rs113719127 0.00324
NM_004565.3(PEX14):c.349G>T (p.Ala117Ser) rs12061667 0.00324
NM_006329.4(FBLN5):c.620-8T>C rs147699855 0.00324
NM_016156.6(MTMR2):c.*837G>A rs532069328 0.00323
NM_001376.5(DYNC1H1):c.8886+13G>A rs17541317 0.00322
NM_024577.4(SH3TC2):c.*3079G>A rs185297430 0.00322
NM_024577.4(SH3TC2):c.*6047T>A rs139490756 0.00322
NM_024577.4(SH3TC2):c.*7918C>T rs148732819 0.00322
NM_170707.4(LMNA):c.357C>T (p.Arg119=) rs41313880 0.00321
NM_181882.3(PRX):c.-236G>A rs552436076 0.00317
NM_000081.4(LYST):c.6292G>A (p.Ala2098Thr) rs146091043 0.00315
NM_001365536.1(SCN9A):c.5779C>T (p.Leu1927Phe) rs111558968 0.00315
NM_024577.4(SH3TC2):c.*13204A>G rs141603977 0.00315
NM_024577.4(SH3TC2):c.*5536T>G rs146756049 0.00315
NM_024577.4(SH3TC2):c.*16784C>T rs144720540 0.00314
NM_024577.4(SH3TC2):c.*1750C>T rs146276637 0.00314
NM_024577.4(SH3TC2):c.*5947C>G rs143516557 0.00314
NM_024577.4(SH3TC2):c.*13230C>T rs138600983 0.00313
NM_024577.4(SH3TC2):c.*20142A>G rs189978591 0.00313
NM_024577.4(SH3TC2):c.*22212G>A rs149300520 0.00313
NM_024577.4(SH3TC2):c.*11010A>G rs114735628 0.00312
NM_170707.4(LMNA):c.811-13T>A rs80356809 0.00309
NM_000217.3(KCNA1):c.-428C>T rs7307690 0.00307
NM_001127649.3(PEX26):c.*954T>C rs188986907 0.00307
NM_001365536.1(SCN9A):c.*2226T>G rs141310425 0.00306
NM_001540.4(HSPB1):c.-56C>T rs35759978 0.00306
NM_024577.4(SH3TC2):c.3686A>T (p.Asp1229Val) rs146920285 0.00306
NM_018319.4(TDP1):c.*496G>A rs34796911 0.00305
NM_021625.5(TRPV4):c.*378G>C rs538255561 0.00305
NM_000370.3(TTPA):c.664-4T>G rs2045224 0.00304
NM_015046.7(SETX):c.7724C>T (p.Pro2575Leu) rs34000644 0.00304
NM_000318.3(PEX2):c.*1448C>T rs184740361 0.00303
NM_001370298.3(FGD4):c.*4497G>A rs367545740 0.00303
NM_001376.5(DYNC1H1):c.1587C>T (p.Asn529=) rs138418906 0.00302
NM_198252.3(GSN):c.243C>T (p.Thr81=) rs116956127 0.00302
NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro) rs145649423 0.00301
NM_001365536.1(SCN9A):c.-283G>C rs191091185 0.00301
NM_000318.3(PEX2):c.*1012C>T rs181539288 0.00300
NM_001540.5(HSPB1):c.*22C>T rs557532119 0.00300
NM_002618.4(PEX13):c.*956G>T rs141215166 0.00300
NM_000217.3(KCNA1):c.1296C>G (p.Ser432=) rs76066681 0.00299
NM_001130823.3(DNMT1):c.891+8C>T rs117294281 0.00299
NM_003477.3(PDHX):c.*27A>C rs74524673 0.00299
NM_024577.4(SH3TC2):c.*13598A>G rs141011337 0.00299
NM_024577.4(SH3TC2):c.238G>A (p.Ala80Thr) rs112507765 0.00297
NM_001034850.3(RETREG1):c.607G>A (p.Val203Met) rs143878016 0.00296
NM_024577.4(SH3TC2):c.*4298C>T rs145849837 0.00296
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys) rs104894825 0.00295
NM_001079866.2(BCS1L):c.613G>A (p.Val205Ile) rs148278887 0.00295
NM_024577.4(SH3TC2):c.*13352G>A rs192178726 0.00295
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426 0.00294
NM_000487.6(ARSA):c.466-7G>C rs6151414 0.00294
NM_001034850.3(RETREG1):c.*1026T>C rs191157317 0.00294
NM_003680.4(YARS1):c.*439T>C rs184249741 0.00294
NM_015046.7(SETX):c.2216G>A (p.Gly739Glu) rs36024203 0.00293
NM_001723.7(DST):c.4400G>A (p.Arg1467His) rs147704763 0.00292
NM_004544.4(NDUFA10):c.*925C>G rs149563558 0.00292
NM_005006.7(NDUFS1):c.421-7A>G rs192949406 0.00292
NM_022124.6(CDH23):c.9501G>A (p.Thr3167=) rs144906721 0.00292
NM_181882.3(PRX):c.554G>A (p.Arg185His) rs76756143 0.00292
NM_181882.3(PRX):c.3702C>T (p.Gly1234=) rs139950446 0.00291
NM_001351132.2(PEX5):c.1053G>A (p.Leu351=) rs61740909 0.00290
NM_002618.4(PEX13):c.*383A>T rs149099359 0.00290
NM_006158.5(NEFL):c.*244A>G rs78869168 0.00290
NM_024577.4(SH3TC2):c.558C>T (p.Ser186=) rs141289653 0.00290
NM_000487.6(ARSA):c.*2259G>A rs187444411 0.00289
NM_002529.4(NTRK1):c.1236C>T (p.Asp412=) rs147438950 0.00289
NM_004551.3(NDUFS3):c.591T>C (p.Pro197=) rs77113494 0.00289
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg) rs138428684 0.00288
NM_181882.3(PRX):c.3846G>A (p.Ser1282=) rs143289108 0.00288
NM_001127649.3(PEX26):c.*828C>T rs551641353 0.00287
NM_002618.4(PEX13):c.*944C>T rs148184159 0.00287
NM_004082.5(DCTN1):c.3746C>T (p.Thr1249Ile) rs72466496 0.00287
NM_001376.5(DYNC1H1):c.5298G>T (p.Leu1766=) rs149395439 0.00286
NM_001723.7(DST):c.4674C>T (p.Leu1558=) rs191617697 0.00285
NM_002778.4(PSAP):c.1380C>T (p.Pro460=) rs1049882 0.00284
NM_005572.3(LMNA):c.-223C>T rs188625872 0.00284
NM_022041.4(GAN):c.*1175C>A rs142989603 0.00284
NM_000487.6(ARSA):c.*191C>G rs537362532 0.00283
NM_001365536.1(SCN9A):c.*124A>G rs201137748 0.00283
NM_002618.4(PEX13):c.*3012A>G rs144691386 0.00283
NM_004544.4(NDUFA10):c.*1943A>G rs148829605 0.00283
NM_014317.5(PDSS1):c.*264A>T rs144623506 0.00283
NM_002618.4(PEX13):c.*1724A>T rs137932203 0.00282
NM_020312.4(COQ9):c.835G>A (p.Asp279Asn) rs76508383 0.00282
NM_000217.3(KCNA1):c.237G>A (p.Glu79=) rs149110871 0.00280
NM_001723.7(DST):c.5909T>C (p.Phe1970Ser) rs141573097 0.00280
NM_000304.4(PMP22):c.403G>A (p.Ala135Thr) rs141094419 0.00278
NM_001365536.1(SCN9A):c.2248A>G (p.Ile750Val) rs182650126 0.00278
NM_000520.6(HEXA):c.*76G>A rs558918292 0.00277
NM_000081.4(LYST):c.1384C>T (p.Pro462Ser) rs77848653 0.00276
NM_000081.4(LYST):c.8913T>G (p.Asn2971Lys) rs34702903 0.00276
NM_001303.4(COX10):c.*904C>G rs75839697 0.00276
NM_001386140.1(MTTP):c.-6G>A rs41275707 0.00276
NM_003172.4(SURF1):c.54+10G>A rs587598397 0.00276
NM_014845.6(FIG4):c.173A>G (p.Tyr58Cys) rs145337669 0.00275
NM_000182.5(HADHA):c.-25C>G rs184300489 0.00274
NM_020631.6(PLEKHG5):c.88C>T (p.Arg30Cys) rs111400494 0.00274
NM_001005373.4(LRSAM1):c.*57G>A rs549468112 0.00273
NM_001130823.2(DNMT1):c.*323C>G rs146694575 0.00273
NM_001303.4(COX10):c.*1148G>A rs151138383 0.00272
NM_006415.4(SPTLC1):c.1411G>A (p.Val471Ile) rs141292904 0.00272
NM_020312.4(COQ9):c.826C>T (p.Arg276Trp) rs143587648 0.00272
NM_001370298.3(FGD4):c.*795G>A rs112398567 0.00271
NM_000153.4(GALC):c.913A>G (p.Ile305Val) rs74887188 0.00270
NM_001370298.3(FGD4):c.*1485T>C rs55970127 0.00268
NM_024577.4(SH3TC2):c.1842C>T (p.Asp614=) rs138411915 0.00267
NM_030962.4(SBF2):c.2323G>A (p.Gly775Ser) rs141330687 0.00267
NM_001386140.1(MTTP):c.1557+7T>A rs142706742 0.00266
NM_002778.4(PSAP):c.189C>T (p.Cys63=) rs111369573 0.00266
NM_000108.5(DLD):c.*1422C>T rs568479120 0.00265
NM_021830.5(TWNK):c.*301C>T rs41291468 0.00264
NM_004544.4(NDUFA10):c.*1382C>T rs111337344 0.00263
NM_078470.6(COX15):c.582+14A>G rs79410539 0.00263
NM_006329.4(FBLN5):c.*647C>T rs10197 0.00262
NM_022041.4(GAN):c.*747G>T rs148581491 0.00262
NM_000487.6(ARSA):c.659C>T (p.Pro220Leu) rs201251634 0.00261
NM_021625.5(TRPV4):c.712+10C>T rs115657305 0.00260
NM_000158.4(GBE1):c.405C>T (p.Leu135=) rs139882066 0.00259
NM_004168.4(SDHA):c.1413C>T (p.Ile471=) rs34779890 0.00259
NM_000217.3(KCNA1):c.-1043C>T rs11831571 0.00257
NM_000318.3(PEX2):c.*2894T>C rs569387185 0.00257
NM_001136472.2(LITAF):c.333C>T (p.Ala111=) rs34448402 0.00256
NM_004168.4(SDHA):c.*133G>C rs193112615 0.00255
NM_014874.4(MFN2):c.1403G>A (p.Arg468His) rs138382758 0.00255
NM_033305.3(VPS13A):c.775A>G (p.Asn259Asp) rs41307461 0.00255
NM_001130823.3(DNMT1):c.4503C>T (p.Cys1501=) rs149271718 0.00254
NM_000284.4(PDHA1):c.*1208A>C rs369499936 0.00252
NM_004544.4(NDUFA10):c.*546G>A rs192485848 0.00252
NM_006158.5(NEFL):c.*485A>G rs145103399 0.00252
NM_015046.7(SETX):c.*254C>T rs11545230 0.00252
NM_001130823.3(DNMT1):c.4428T>G (p.His1476Gln) rs142647321 0.00251
NM_002529.4(NTRK1):c.612G>A (p.Ser204=) rs114320051 0.00251
NM_004082.5(DCTN1):c.3594C>T (p.Thr1198=) rs115689748 0.00250
NM_015046.7(SETX):c.4660T>G (p.Cys1554Gly) rs112089123 0.00250
NM_020247.5(COQ8A):c.384C>T (p.Ala128=) rs139970507 0.00250
NM_001130823.3(DNMT1):c.1944C>T (p.Phe648=) rs61750052 0.00249
NM_003560.4(PLA2G6):c.972G>A (p.Ala324=) rs147755372 0.00249
NM_133259.4(LRPPRC):c.2325A>G (p.Lys775=) rs139634347 0.00249
NM_000153.4(GALC):c.997G>A (p.Gly333Arg) rs190921137 0.00248
NM_001365536.1(SCN9A):c.*2312A>T rs185580193 0.00248
NM_001113491.2(SEPTIN9):c.*789G>A rs12969 0.00247
NM_002180.3(IGHMBP2):c.2091G>A (p.Pro697=) rs113615425 0.00247
NM_020631.6(PLEKHG5):c.928G>A (p.Asp310Asn) rs61730399 0.00247
NM_000487.6(ARSA):c.1447G>A (p.Glu483Lys) rs148352371 0.00245
NM_001723.7(DST):c.5153A>C (p.Lys1718Thr) rs45487998 0.00245
NM_005908.4(MANBA):c.2136G>A (p.Ser712=) rs149687835 0.00245
NM_006415.4(SPTLC1):c.*1154T>C rs142740904 0.00245
NM_006415.4(SPTLC1):c.985-5C>T rs114380004 0.00245
NM_015046.7(SETX):c.*168C>T rs115351494 0.00245
NM_001005361.3(DNM2):c.190G>A (p.Val64Ile) rs144250390 0.00243
NM_001130823.3(DNMT1):c.996C>T (p.Asp332=) rs16999358 0.00243
NM_001370298.3(FGD4):c.*4956T>A rs149215917 0.00243
NM_002047.2(GARS1):c.-85C>A rs777045330 0.00243
NM_003477.3(PDHX):c.474G>A (p.Glu158=) rs148723565 0.00243
NM_003172.4(SURF1):c.*47G>A rs138050767 0.00242
NM_016156.6(MTMR2):c.*1826C>A rs145394232 0.00242
NM_000108.5(DLD):c.507C>T (p.Gly169=) rs144351432 0.00241
NM_016156.6(MTMR2):c.*2187A>G rs141738388 0.00241
NM_000384.3(APOB):c.3843C>T (p.Ser1281=) rs72653079 0.00240
NM_001130823.3(DNMT1):c.358G>C (p.Val120Leu) rs75616428 0.00240
NM_006329.4(FBLN5):c.-411A>G rs143296045 0.00240
NM_018319.4(TDP1):c.*599G>C rs184066284 0.00238
NM_000158.4(GBE1):c.1134T>G (p.Ser378Arg) rs36099971 0.00237
NM_004551.3(NDUFS3):c.475G>C (p.Val159Leu) rs148331180 0.00237
NM_001605.3(AARS1):c.1672-4T>A rs187509039 0.00236
NM_020631.6(PLEKHG5):c.532G>A (p.Gly178Arg) rs143484278 0.00233
NM_001113491.2(SEPTIN9):c.1248C>T (p.Pro416=) rs202186741 0.00232
NM_001370298.3(FGD4):c.*2462C>A rs575272682 0.00231
NM_002180.3(IGHMBP2):c.1064C>T (p.Ala355Val) rs142062146 0.00231
NM_001370298.3(FGD4):c.1296C>T (p.Phe432=) rs151083690 0.00230
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927 0.00229
NM_004863.4(SPTLC2):c.*2338G>A rs148034053 0.00227
NM_000217.3(KCNA1):c.*189G>A rs187069793 0.00226
NM_024577.4(SH3TC2):c.*16056C>T rs147906062 0.00226
NM_000784.4(CYP27A1):c.243G>A (p.Leu81=) rs75897848 0.00225
NM_001374736.1(DST):c.2256A>T (p.Ser752=) rs113432929 0.00225
NM_021625.5(TRPV4):c.1824+4C>T rs147259744 0.00225
NM_000466.3(PEX1):c.934A>G (p.Ile312Val) rs146312634 0.00223
NM_021830.5(TWNK):c.*419A>T rs187553791 0.00223
NM_001953.5(TYMP):c.735G>A (p.Gln245=) rs139223629 0.00222
NM_004544.4(NDUFA10):c.*372C>T rs143693330 0.00222
NM_004565.3(PEX14):c.170-13C>T rs182967518 0.00222
NM_006158.5(NEFL):c.*82T>A rs148654058 0.00222
NM_001351132.2(PEX5):c.1521C>T (p.Ala507=) rs150761638 0.00221
NM_014874.4(MFN2):c.892G>A (p.Gly298Arg) rs41278630 0.00221
NM_001303.4(COX10):c.929-7C>T rs62052075 0.00220
NM_003630.3(PEX3):c.-96G>T rs375554173 0.00220
NM_004863.4(SPTLC2):c.*1709G>A rs146295173 0.00220
NM_004863.4(SPTLC2):c.*2645C>T rs78577388 0.00220
NM_000466.3(PEX1):c.330C>G (p.Pro110=) rs71560821 0.00218
NM_003680.3(YARS1):c.-188G>T rs184477254 0.00218
NM_003680.3(YARS1):c.-245T>C rs189362780 0.00218
NM_003680.4(YARS1):c.52C>T (p.Leu18=) rs147538442 0.00218
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala) rs144942544 0.00217
NM_001113491.2(SEPTIN9):c.201C>T (p.Gly67=) rs61744333 0.00217
NM_020312.4(COQ9):c.-25C>G rs547268811 0.00217
NM_020312.4(COQ9):c.625C>G (p.Leu209Val) rs78846023 0.00217
NM_000466.3(PEX1):c.2442C>T (p.Phe814=) rs145430946 0.00216
NM_000925.4(PDHB):c.132T>C (p.Asp44=) rs11542399 0.00216
NM_016156.6(MTMR2):c.1488C>T (p.Thr496=) rs112327353 0.00216
NM_002495.4(NDUFS4):c.102G>A (p.Ser34=) rs138941073 0.00215
NM_004082.5(DCTN1):c.1617A>G (p.Glu539=) rs139061654 0.00215
NM_004863.4(SPTLC2):c.*2749A>C rs138960830 0.00215
NM_000466.3(PEX1):c.473-3C>T rs150576000 0.00213
NM_002047.4(GARS1):c.1031+14T>G rs189589556 0.00213
NM_004544.4(NDUFA10):c.*1161C>T rs184925264 0.00213
NM_033305.3(VPS13A):c.4642G>A (p.Glu1548Lys) rs41289967 0.00213
NM_001303.4(COX10):c.1291C>T (p.Arg431Trp) rs113058506 0.00212
NM_000182.5(HADHA):c.-1G>T rs72809666 0.00211
NM_001605.3(AARS1):c.*213C>T rs150625194 0.00211
NM_001386140.1(MTTP):c.*382T>C rs556994625 0.00210
NM_002047.4(GARS1):c.1420C>A (p.Arg474=) rs113958280 0.00210
NM_004637.6(RAB7A):c.423C>G (p.Ala141=) rs61758751 0.00210
NM_021625.5(TRPV4):c.*365C>T rs184413363 0.00210
NM_000108.5(DLD):c.*1640A>G rs148148357 0.00209
NM_001351132.2(PEX5):c.604G>C (p.Val202Leu) rs149102738 0.00209
NM_020631.6(PLEKHG5):c.307G>A (p.Val103Met) rs141032388 0.00209
NM_000284.4(PDHA1):c.*857A>G rs182836908 0.00208
NM_001127649.3(PEX26):c.*279G>A rs147096782 0.00208
NM_033305.3(VPS13A):c.3356G>A (p.Gly1119Glu) rs144358567 0.00207
NM_002857.4(PEX19):c.261C>T (p.Phe87=) rs146644725 0.00206
NM_004168.4(SDHA):c.1623G>A (p.Lys541=) rs35502109 0.00206
NM_004544.4(NDUFA10):c.*632G>A rs189306598 0.00206
NM_004544.4(NDUFA10):c.-38T>G rs374970309 0.00206
NM_024577.4(SH3TC2):c.*15125C>G rs181229340 0.00206
NM_024577.4(SH3TC2):c.*578C>T rs567100275 0.00206
NM_002496.4(NDUFS8):c.4C>T (p.Arg2Cys) rs150278938 0.00205
NM_005908.4(MANBA):c.2191G>A (p.Val731Met) rs150554352 0.00205
NM_000304.4(PMP22):c.-141C>G rs560442424 0.00204
NM_000284.4(PDHA1):c.*864G>A rs192450087 0.00203
NM_001136472.2(LITAF):c.*686C>T rs190484543 0.00202
NM_001365536.1(SCN9A):c.*2212T>C rs200750861 0.00201
NM_006096.4(NDRG1):c.331A>C (p.Met111Leu) rs2233328 0.00201
NM_016156.6(MTMR2):c.*825G>A rs192257681 0.00201
NM_024577.4(SH3TC2):c.*13465C>A rs186009343 0.00201
NM_024577.4(SH3TC2):c.*4638A>T rs117883175 0.00201
NM_030962.4(SBF2):c.*112G>A rs144513995 0.00201
NM_000153.4(GALC):c.525C>T (p.Val175=) rs181066089 0.00199
NM_006329.4(FBLN5):c.-152C>T rs139387007 0.00199
NM_006329.4(FBLN5):c.376G>A (p.Val126Met) rs61734479 0.00199
NM_012073.5(CCT5):c.331+14A>T rs201171003 0.00199
NM_033305.3(VPS13A):c.1758T>C (p.Ala586=) rs149037185 0.00199
NM_002529.4(NTRK1):c.1908G>A (p.Ala636=) rs17838192 0.00198
NM_000487.6(ARSA):c.-224C>G rs546035074 0.00197
NM_004813.4(PEX16):c.*10C>T rs201127195 0.00197
NM_024407.5(NDUFS7):c.153C>T (p.Ala51=) rs140236960 0.00196
NM_001374736.1(DST):c.4906T>C (p.Leu1636=) rs147406105 0.00195
NM_001723.7(DST):c.25C>T (p.Arg9Cys) rs75671065 0.00193
NM_002618.3(PEX13):c.-68C>T rs571713221 0.00193
NM_004813.4(PEX16):c.204G>T (p.Glu68Asp) rs149348130 0.00192
NM_022041.4(GAN):c.*211C>T rs566082565 0.00192
NM_001351132.2(PEX5):c.-16-274G>A rs542096066 0.00191
NM_004376.5(COX15):c.*3086G>T rs1000984 0.00191
NM_021625.5(TRPV4):c.1713C>G (p.Ile571Met) rs185933892 0.00191
NM_181882.3(PRX):c.3373G>A (p.Gly1125Ser) rs148939995 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_001370298.3(FGD4):c.167-61923G>A rs184708096 0.00190
NM_001605.3(AARS1):c.2521-3C>T rs200586605 0.00190
NM_033305.3(VPS13A):c.5831-8T>C rs113702270 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_000284.4(PDHA1):c.-98C>T rs192773464 0.00187
NM_002180.3(IGHMBP2):c.1193C>T (p.Ala398Val) rs35193202 0.00187
NM_002529.4(NTRK1):c.157G>C (p.Asp53His) rs200815412 0.00187
NM_003630.2(PEX3):c.-247T>C rs138955442 0.00187
NM_000166.6(GJB1):c.235C>T (p.Leu79=) rs144717157 0.00186
NM_001136472.2(LITAF):c.*68G>A rs189101115 0.00186
NM_000466.3(PEX1):c.637C>T (p.Leu213Phe) rs141798874 0.00185
NM_002778.4(PSAP):c.1056C>T (p.Ser352=) rs138328594 0.00185
NM_004544.4(NDUFA10):c.*3141C>T rs144864637 0.00185
NM_022124.6(CDH23):c.10026C>T (p.Asp3342=) rs377118941 0.00185
NM_181882.3(PRX):c.2254G>A (p.Glu752Lys) rs147587689 0.00185
NM_004376.6(COX15):c.-590G>A rs191339901 0.00184
NM_021625.5(TRPV4):c.2498A>G (p.Asn833Ser) rs116035946 0.00184
NM_002618.4(PEX13):c.*3106T>C rs148515938 0.00183
NM_020631.6(PLEKHG5):c.495G>A (p.Lys165=) rs150772386 0.00183
NM_033305.3(VPS13A):c.9078-7C>T rs186819389 0.00183
NM_001130823.3(DNMT1):c.150C>T (p.His50=) rs146112081 0.00182
NM_022124.6(CDH23):c.*68G>C rs527311705 0.00182
NM_002618.4(PEX13):c.355G>A (p.Val119Ile) rs147707348 0.00181
NM_000286.3(PEX12):c.451C>T (p.Arg151Cys) rs138731505 0.00180
NM_001365536.1(SCN9A):c.1997A>G (p.Lys666Arg) rs121908919 0.00180
NM_001605.3(AARS1):c.2459A>G (p.Lys820Arg) rs147319762 0.00180
NM_004168.4(SDHA):c.1911C>T (p.Val637=) rs11557098 0.00180
NM_000217.3(KCNA1):c.*1469G>A rs536746031 0.00179
NM_001113491.2(SEPTIN9):c.*454G>A rs573267105 0.00179
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_004082.5(DCTN1):c.2258C>T (p.Thr753Met) rs143763184 0.00179
NM_004565.3(PEX14):c.825G>A (p.Ser275=) rs143412169 0.00179
NM_000217.3(KCNA1):c.*2727C>T rs113371270 0.00178
NM_015046.7(SETX):c.7114G>A (p.Asp2372Asn) rs150673589 0.00178
NM_018319.4(TDP1):c.1165G>A (p.Ala389Thr) rs138044459 0.00178
NM_033305.3(VPS13A):c.7457T>C (p.Ile2486Thr) rs141138349 0.00178
NM_000217.3(KCNA1):c.*2121T>C rs188295490 0.00177
NM_000371.4(TTR):c.416C>T (p.Thr139Met) rs28933981 0.00177
NM_001365536.1(SCN9A):c.*2228G>T rs200790957 0.00177
NM_002617.4(PEX10):c.*643C>T rs150136015 0.00177
NM_001370298.3(FGD4):c.*167G>A rs138847108 0.00176
NM_001386140.1(MTTP):c.2513+13G>A rs148073215 0.00176
NM_014317.5(PDSS1):c.589A>G (p.Lys197Glu) rs116424900 0.00176
NM_001370298.3(FGD4):c.*4028A>G rs75608969 0.00175
NM_001370298.3(FGD4):c.*4585T>A rs140048835 0.00175
NM_001376.5(DYNC1H1):c.7239G>T (p.Leu2413=) rs138407720 0.00175
NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val) rs180922748 0.00174
NM_000182.5(HADHA):c.2060T>C (p.Met687Thr) rs149632783 0.00173
NM_000520.6(HEXA):c.346+13C>T rs200871198 0.00173
NM_001365536.1(SCN9A):c.*2344C>T rs200962814 0.00173
NM_001365536.1(SCN9A):c.4645T>C (p.Trp1549Arg) rs202084411 0.00173
NM_001605.3(AARS1):c.*324G>A rs141837805 0.00173
NM_005908.4(MANBA):c.1254C>G (p.Ala418=) rs139157403 0.00173
NM_015046.7(SETX):c.3310C>G (p.Gln1104Glu) rs113831637 0.00173
NM_024577.4(SH3TC2):c.*7917A>G rs546816780 0.00173
NM_024577.4(SH3TC2):c.1862G>A (p.Arg621His) rs143032801 0.00173
NM_000370.3(TTPA):c.24C>G (p.Pro8=) rs140010311 0.00172
NM_002617.4(PEX10):c.712G>C (p.Gly238Arg) rs61736380 0.00172
NM_005006.7(NDUFS1):c.611T>C (p.Met204Thr) rs148544177 0.00172
NM_021625.5(TRPV4):c.649G>T (p.Ala217Ser) rs187864727 0.00172
NM_001127649.3(PEX26):c.*1156T>C rs565644082 0.00171
NM_001127649.3(PEX26):c.*1194G>A rs118188952 0.00171
NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=) rs188336294 0.00171
NM_020631.6(PLEKHG5):c.64G>A (p.Val22Met) rs112530241 0.00171
NM_021625.5(TRPV4):c.*230G>A rs181542514 0.00171
NM_000217.3(KCNA1):c.*4591T>G rs150901962 0.00170
NM_001386140.1(MTTP):c.419A>G (p.Asn140Ser) rs61733140 0.00170
NM_004544.4(NDUFA10):c.*2242T>C rs111969519 0.00170
NM_004565.3(PEX14):c.*576A>G rs530124005 0.00170
NM_016156.6(MTMR2):c.*207A>G rs185702937 0.00170
NM_001113491.2(SEPTIN9):c.1752G>A (p.Pro584=) rs367775215 0.00169
NM_016156.6(MTMR2):c.1855T>C (p.Ser619Pro) rs116750638 0.00169
NM_018319.4(TDP1):c.*1618T>C rs35308003 0.00169
NM_022041.4(GAN):c.1445C>T (p.Ala482Val) rs146576740 0.00169
NM_133259.4(LRPPRC):c.*1152C>G rs562361644 0.00169
NM_001370298.3(FGD4):c.1777C>A (p.Pro593Thr) rs138160928 0.00168
NM_024577.4(SH3TC2):c.*3058A>G rs563916447 0.00168
NM_003560.4(PLA2G6):c.990C>T (p.Phe330=) rs146241431 0.00167
NM_030962.4(SBF2):c.3036C>T (p.Thr1012=) rs111967328 0.00167
NM_002180.3(IGHMBP2):c.*175T>C rs189725711 0.00166
NM_004082.5(DCTN1):c.3146G>A (p.Arg1049Gln) rs72659383 0.00166
NM_004544.4(NDUFA10):c.548-9A>G rs147876332 0.00166
NM_022124.6(CDH23):c.*478G>C rs564392413 0.00166
NM_024577.4(SH3TC2):c.3813C>T (p.Ser1271=) rs140985600 0.00166
NM_004376.5(COX15):c.*4110T>G rs56206689 0.00164
NM_015046.7(SETX):c.*2506T>C rs73545065 0.00164
NM_015046.7(SETX):c.*905A>G rs58327306 0.00164
NM_001005361.3(DNM2):c.2160C>T (p.Asp720=) rs117598326 0.00163
NM_001365536.1(SCN9A):c.-277C>T rs201445594 0.00163
NM_004376.5(COX15):c.*4435A>G rs74152722 0.00163
NM_001370298.3(FGD4):c.666A>T (p.Ala222=) rs139357821 0.00161
NM_001605.3(AARS1):c.*141A>G rs576707006 0.00161
NM_024577.4(SH3TC2):c.*15639A>G rs190478262 0.00160
NM_000466.3(PEX1):c.*292G>A rs138531138 0.00159
NM_002180.3(IGHMBP2):c.*466G>A rs542162905 0.00159
NM_003680.4(YARS1):c.*138G>A rs41265857 0.00159
NM_024577.4(SH3TC2):c.*22357T>C rs191754280 0.00158
NM_000143.4(FH):c.1236+14C>T rs149241949 0.00157
NM_000466.3(PEX1):c.130-9T>C rs377337949 0.00157
NM_002180.3(IGHMBP2):c.2545G>A (p.Ala849Thr) rs2228208 0.00157
NM_001113491.2(SEPTIN9):c.1477-9G>A rs145143440 0.00156
NM_000466.3(PEX1):c.1011G>A (p.Lys337=) rs142018583 0.00155
NM_001113491.2(SEPTIN9):c.*1639C>G rs539303139 0.00155
NM_001351132.2(PEX5):c.*179A>G rs192786621 0.00155
NM_001374736.1(DST):c.4930-651G>A rs116219382 0.00155
NM_024577.4(SH3TC2):c.*20773G>T rs113020040 0.00155
NM_000304.4(PMP22):c.*205C>A rs189734097 0.00154
NM_001365951.3(KIF1B):c.-260C>T rs149705989 0.00154
NM_022041.4(GAN):c.*2332T>A rs191866467 0.00154
NM_024577.4(SH3TC2):c.*7006T>C rs187720692 0.00154
NM_001130823.3(DNMT1):c.2117+13G>A rs112660071 0.00153
NM_001540.5(HSPB1):c.178C>T (p.Pro60Ser) rs61751217 0.00153
NM_020247.5(COQ8A):c.298G>T (p.Asp100Tyr) rs150696959 0.00153
NM_024577.4(SH3TC2):c.*10105C>T rs753563756 0.00153
NM_024577.4(SH3TC2):c.*1982C>A rs535127091 0.00153
NM_024577.4(SH3TC2):c.*391G>C rs117139060 0.00153
NM_024577.4(SH3TC2):c.1177+10G>A rs139257109 0.00153
NM_133259.4(LRPPRC):c.3148+12C>T rs199684766 0.00153
NM_001374736.1(DST):c.2350C>G (p.Pro784Ala) rs151271595 0.00152
NM_002047.4(GARS1):c.*145C>A rs904772533 0.00152
NM_133259.4(LRPPRC):c.*1564G>A rs142436911 0.00152
NM_004863.4(SPTLC2):c.*4131G>A rs45577834 0.00151
NM_003477.3(PDHX):c.*331G>C rs555691861 0.00150
NM_004376.5(COX15):c.*3211G>A rs548503022 0.00150
NM_014845.6(FIG4):c.-132A>G rs548471516 0.00150
NM_024577.4(SH3TC2):c.*20882A>G rs112269889 0.00150
NM_033305.3(VPS13A):c.-148C>T rs555695029 0.00150
NM_001005361.3(DNM2):c.1902C>T (p.Asn634=) rs2229919 0.00149
NM_001370298.3(FGD4):c.*1351A>T rs558890776 0.00149
NM_001540.5(HSPB1):c.-19C>T rs199602956 0.00149
NM_000081.4(LYST):c.6710A>C (p.Gln2237Pro) rs138443479 0.00148
NM_000318.3(PEX2):c.*659C>G rs551943990 0.00148
NM_001370298.3(FGD4):c.*5389A>G rs566628332 0.00148
NM_078470.6(COX15):c.*1776T>A rs145963002 0.00148
NM_004082.5(DCTN1):c.*167C>T rs142053202 0.00147
NM_020312.4(COQ9):c.921+11C>A rs75908124 0.00146
NM_024577.4(SH3TC2):c.*21658A>G rs145964634 0.00146
NM_000288.4(PEX7):c.*272A>G rs186705952 0.00145
NM_004544.4(NDUFA10):c.*1198G>A rs143353868 0.00145
NM_181882.3(PRX):c.-114T>G rs367716653 0.00145
NM_002180.3(IGHMBP2):c.2922T>G (p.Asp974Glu) rs147674615 0.00144
NM_015046.7(SETX):c.*1800C>T rs147200829 0.00144
NM_022041.4(GAN):c.*816T>C rs188599282 0.00144
NM_030962.4(SBF2):c.2337C>T (p.Ser779=) rs140730386 0.00144
NM_007103.4(NDUFV1):c.150C>T (p.Asp50=) rs11540012 0.00143
NM_020247.5(COQ8A):c.*230G>A rs117808661 0.00143
NM_024577.4(SH3TC2):c.*1720T>A rs148473467 0.00143
NM_033305.3(VPS13A):c.2170+13T>C rs183087425 0.00143
NM_181882.3(PRX):c.*144C>T rs189487790 0.00143
NM_001365536.1(SCN9A):c.3675C>A (p.Ile1225=) rs77144869 0.00141
NM_001386140.1(MTTP):c.2433G>C (p.Leu811Phe) rs144590904 0.00141
NM_005006.7(NDUFS1):c.*561T>C rs146538309 0.00141
NM_018972.4(GDAP1):c.*1141C>T rs566147187 0.00141
NM_020247.5(COQ8A):c.1914C>T (p.Ser638=) rs56043893 0.00141
NM_006096.4(NDRG1):c.31G>A (p.Ala11Thr) rs145871479 0.00140
NM_006329.4(FBLN5):c.*648G>A rs182435130 0.00140
NM_020247.5(COQ8A):c.238C>T (p.His80Tyr) rs76249490 0.00140
NM_020312.4(COQ9):c.74-13G>A rs181356497 0.00140
NM_181882.3(PRX):c.719G>A (p.Arg240Gln) rs77917609 0.00140
NM_002529.4(NTRK1):c.287+12G>A rs202238126 0.00138
NM_181882.3(PRX):c.3947C>T (p.Ala1316Val) rs142762689 0.00138
NM_000183.2(HADHB):c.-185G>C rs367712851 0.00137
NM_001376.5(DYNC1H1):c.5001C>T (p.Asn1667=) rs117199211 0.00137
NM_001605.3(AARS1):c.700C>T (p.Pro234Ser) rs141840552 0.00137
NM_001723.7(DST):c.4049C>T (p.Thr1350Met) rs45472691 0.00137
NM_024577.4(SH3TC2):c.*2361A>T rs146327509 0.00137
NM_020631.6(PLEKHG5):c.260T>C (p.Ile87Thr) rs117505788 0.00136
NM_181882.3(PRX):c.1574T>C (p.Val525Ala) rs149715830 0.00136
NM_000081.4(LYST):c.4337G>A (p.Arg1446Gln) rs111722949 0.00135
NM_001005361.3(DNM2):c.*185A>C rs570774479 0.00135
NM_001113491.2(SEPTIN9):c.1573+10G>A rs143783047 0.00135
NM_001605.2(AARS1):c.-108T>C rs779683414 0.00135
NM_001953.5(TYMP):c.242G>A (p.Arg81Gln) rs143789597 0.00135
NM_002180.3(IGHMBP2):c.-28C>A rs117368938 0.00135
NM_021830.5(TWNK):c.639C>T (p.Gly213=) rs11542130 0.00135
NM_022041.4(GAN):c.1612+12A>G rs150344737 0.00135
NM_024577.4(SH3TC2):c.*4935A>T rs149921013 0.00135
NM_001127649.3(PEX26):c.*1720G>A rs749348676 0.00134
NM_001351132.2(PEX5):c.*452G>C rs185474091 0.00134
NM_006329.4(FBLN5):c.714T>A (p.Leu238=) rs141152607 0.00134
NM_033305.3(VPS13A):c.4927G>A (p.Asp1643Asn) rs74622901 0.00134
NM_000217.3(KCNA1):c.*2596A>T rs188377239 0.00133
NM_001005373.4(LRSAM1):c.268G>A (p.Asp90Asn) rs117692127 0.00133
NM_001374736.1(DST):c.1779-395G>A rs143726337 0.00133
NM_002857.4(PEX19):c.*1471A>T rs2301299 0.00133
NM_002857.4(PEX19):c.346+14A>G rs77156017 0.00133
NM_022124.6(CDH23):c.*434G>A rs529522213 0.00133
NM_024577.4(SH3TC2):c.*13645C>T rs180704051 0.00133
NM_024577.4(SH3TC2):c.*797A>G rs140821223 0.00133
NM_024577.4(SH3TC2):c.3834G>A (p.Ala1278=) rs117804174 0.00133
NM_024577.4(SH3TC2):c.79A>G (p.Thr27Ala) rs141649676 0.00133
NM_001130823.3(DNMT1):c.*165T>G rs192952800 0.00132
NM_001376.5(DYNC1H1):c.8304G>A (p.Pro2768=) rs77113510 0.00132
NM_002857.4(PEX19):c.*864C>T rs144938105 0.00132
NM_003630.3(PEX3):c.*321A>T rs1030569248 0.00132
NM_004544.4(NDUFA10):c.*1879G>A rs143421241 0.00132
NM_133259.4(LRPPRC):c.64C>G (p.Leu22Val) rs181626399 0.00132
NM_001370298.3(FGD4):c.2560G>A (p.Val854Met) rs61753359 0.00131
NM_003477.3(PDHX):c.47A>C (p.Tyr16Ser) rs118136428 0.00131
NM_015046.7(SETX):c.-70T>C rs72765839 0.00131
NM_022124.6(CDH23):c.*430A>T rs562268606 0.00131
NM_000925.4(PDHB):c.198A>G (p.Ala66=) rs138621975 0.00130
NM_003630.3(PEX3):c.*391G>A rs140007169 0.00129
NM_133259.4(LRPPRC):c.*1981A>T rs180886841 0.00129
NM_000371.4(TTR):c.360C>T (p.Ser120=) rs150127220 0.00128
NM_000784.3(CYP27A1):c.-335C>T rs528284503 0.00128
NM_003680.4(YARS1):c.1291A>T (p.Met431Leu) rs149620809 0.00128
NM_004376.6(COX15):c.-406C>G rs11595470 0.00128
NM_014845.6(FIG4):c.446+9G>A rs190287033 0.00128
NM_024577.4(SH3TC2):c.*2081T>G rs543206033 0.00127
NM_024577.4(SH3TC2):c.*39A>C rs76579569 0.00127
NM_000081.4(LYST):c.8487C>T (p.Ile2829=) rs144597913 0.00126
NM_000284.4(PDHA1):c.*549A>G rs187525386 0.00126
NM_000287.4(PEX6):c.1480-5C>T rs376473597 0.00126
NM_001113491.2(SEPTIN9):c.*876C>T rs3826284 0.00126
NM_021830.5(TWNK):c.1697A>G (p.Lys566Arg) rs116046810 0.00126
NM_024577.4(SH3TC2):c.*4555A>G rs117287440 0.00126
NM_024577.4(SH3TC2):c.*4691C>T rs574710725 0.00126
NM_000158.4(GBE1):c.1521T>C (p.Thr507=) rs372821643 0.00125
NM_000158.4(GBE1):c.15G>A (p.Met5Ile) rs62267114 0.00125
NM_001376.5(DYNC1H1):c.2721T>C (p.Ile907=) rs114021657 0.00125
NM_001376.5(DYNC1H1):c.7458G>T (p.Leu2486=) rs17541165 0.00125
NM_024577.4(SH3TC2):c.*18476T>C rs185251230 0.00125
NM_024577.4(SH3TC2):c.2322C>T (p.Asp774=) rs17795193 0.00125
NM_007103.4(NDUFV1):c.*79C>T rs76839099 0.00124
NM_001005361.3(DNM2):c.238C>T (p.His80Tyr) rs148790687 0.00123
NM_001130823.3(DNMT1):c.768+12T>A rs189898346 0.00123
NM_001386140.1(MTTP):c.2025C>T (p.Ile675=) rs79023226 0.00123
NM_003680.4(YARS1):c.1374G>A (p.Pro458=) rs151227410 0.00123
NM_170707.4(LMNA):c.1566C>T (p.Cys522=) rs149339264 0.00123
NM_000287.4(PEX6):c.1718C>T (p.Thr573Ile) rs140769712 0.00122
NM_015046.7(SETX):c.3809C>T (p.Pro1270Leu) rs144334281 0.00122
NM_001127649.3(PEX26):c.911G>A (p.Arg304His) rs17851387 0.00121
NM_001370298.3(FGD4):c.*2638A>G rs193167910 0.00121
NM_003560.4(PLA2G6):c.-20C>A rs191263821 0.00121
NM_021625.5(TRPV4):c.2248G>A (p.Val750Ile) rs148171058 0.00121
NM_021830.5(TWNK):c.1735-14C>A rs201795189 0.00121
NM_022041.4(GAN):c.*1336G>A rs150666164 0.00121
NM_002047.4(GARS1):c.1962C>T (p.Ile654=) rs201927627 0.00120
NM_004544.4(NDUFA10):c.*2202C>T rs77614498 0.00120
NM_024577.4(SH3TC2):c.*3202T>C rs188625202 0.00120
NM_004544.4(NDUFA10):c.*2495C>T rs78395168 0.00119
NM_018972.4(GDAP1):c.*331C>T rs1052033443 0.00119
NM_000217.3(KCNA1):c.-638C>T rs574980784 0.00118
NM_002529.4(NTRK1):c.865C>A (p.Gln289Lys) rs137979116 0.00118
NM_003680.4(YARS1):c.*599A>C rs542816112 0.00118
NM_024577.4(SH3TC2):c.*16928A>G rs760134609 0.00118
NM_133259.4(LRPPRC):c.3030C>T (p.Asp1010=) rs147000685 0.00118
NM_004168.4(SDHA):c.1368G>A (p.Ser456=) rs149875171 0.00117
NM_004544.4(NDUFA10):c.*1915G>A rs144590599 0.00117
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00117
NM_000487.6(ARSA):c.*332C>T rs780413907 0.00115
NM_001365536.1(SCN9A):c.*1770A>C rs200353065 0.00115
NM_001723.7(DST):c.6582A>C (p.Ala2194=) rs149007397 0.00115
NM_000284.4(PDHA1):c.*575T>C rs191995452 0.00114
NM_024577.4(SH3TC2):c.137A>C (p.Gln46Pro) rs146162276 0.00114
NM_000143.4(FH):c.-11C>T rs200942733 0.00113
NM_000217.3(KCNA1):c.*2488T>C rs376503311 0.00113
NM_022041.4(GAN):c.*495G>A rs558701236 0.00113
NM_033305.3(VPS13A):c.4041C>T (p.Ala1347=) rs74983687 0.00113
NM_000284.4(PDHA1):c.*1297G>A rs778678656 0.00112
NM_001042472.3(ABHD12):c.769C>T (p.Arg257Trp) rs41306784 0.00112
NM_000304.4(PMP22):c.178+7C>A rs147885521 0.00111
NM_001386140.1(MTTP):c.972G>A (p.Glu324=) rs146953015 0.00111
NM_020312.4(COQ9):c.-27G>C rs538493869 0.00111
NM_000284.4(PDHA1):c.*1345A>G rs193253848 0.00110
NM_002618.4(PEX13):c.893T>C (p.Met298Thr) rs138545154 0.00110
NM_002857.4(PEX19):c.181-5C>T rs199818690 0.00109
NM_007103.4(NDUFV1):c.72+15G>T rs187400726 0.00109
NM_000081.4(LYST):c.4548C>T (p.Ser1516=) rs116551057 0.00108
NM_001365536.1(SCN9A):c.*785C>T rs181229506 0.00108
NM_002180.3(IGHMBP2):c.2837G>A (p.Arg946Gln) rs149824485 0.00108
NM_002529.4(NTRK1):c.212+10C>T rs183517027 0.00108
NM_002618.4(PEX13):c.*357T>C rs138236564 0.00108
NM_020631.6(PLEKHG5):c.994C>T (p.Arg332Trp) rs140202670 0.00108
NM_021625.5(TRPV4):c.1308C>T (p.Ile436=) rs141244183 0.00108
NM_024577.4(SH3TC2):c.3380G>A (p.Arg1127Gln) rs139192433 0.00108
NM_181882.3(PRX):c.823C>A (p.Leu275Ile) rs200033507 0.00108
NM_000153.4(GALC):c.659G>A (p.Arg220Gln) rs199967869 0.00107
NM_000318.3(PEX2):c.*1716A>G rs192555214 0.00107
NM_001130823.3(DNMT1):c.493+8C>T rs138998574 0.00107
NM_004565.3(PEX14):c.36+8G>A rs200154696 0.00107
NM_022041.4(GAN):c.*1002T>A rs552489170 0.00107
NM_000081.4(LYST):c.7506A>G (p.Gln2502=) rs140434436 0.00106
NM_000318.3(PEX2):c.-183G>T rs568404564 0.00106
NM_001370298.3(FGD4):c.2070C>G (p.Ala690=) rs188104446 0.00106
NM_014874.4(MFN2):c.165C>T (p.Thr55=) rs77458527 0.00106
NM_014874.4(MFN2):c.408A>T (p.Val136=) rs78814413 0.00106
NM_024577.4(SH3TC2):c.*2987C>T rs565331463 0.00106
NM_002180.3(IGHMBP2):c.2844G>A (p.Gly948=) rs147918962 0.00105
NM_004565.3(PEX14):c.208T>G (p.Ser70Ala) rs77261230 0.00105
NM_015046.7(SETX):c.3229G>A (p.Asp1077Asn) rs145097270 0.00105
NM_181882.3(PRX):c.3186G>T (p.Lys1062Asn) rs139188673 0.00105
NM_000371.4(TTR):c.417G>A (p.Thr139=) rs2276382 0.00104
NM_001079866.2(BCS1L):c.-14G>A rs367721351 0.00103
NM_001376.5(DYNC1H1):c.13440C>T (p.Ser4480=) rs150286673 0.00103
NM_002617.4(PEX10):c.601-27A>G rs144264865 0.00103
NM_021625.5(TRPV4):c.*486T>C rs79157363 0.00103
NM_022041.4(GAN):c.1162C>T (p.Leu388=) rs73589395 0.00103
NM_024577.4(SH3TC2):c.*2269G>T rs575693285 0.00103
NM_033305.3(VPS13A):c.5292G>T (p.Leu1764=) rs141528779 0.00103
NM_198252.3(GSN):c.1225G>A (p.Val409Met) rs140042418 0.00103
NM_001005361.3(DNM2):c.2061G>A (p.Thr687=) rs149164657 0.00102
NM_002618.4(PEX13):c.*1961T>C rs771587917 0.00102
NM_003680.3(YARS1):c.-464C>T rs534491159 0.00102
NM_003680.3(YARS1):c.-662G>A rs112104823 0.00102
NM_006096.4(NDRG1):c.789G>A (p.Ser263=) rs61755062 0.00102
NM_030962.4(SBF2):c.777G>A (p.Pro259=) rs142261202 0.00102
NM_133259.4(LRPPRC):c.1301G>A (p.Gly434Asp) rs146515622 0.00102
NM_000286.3(PEX12):c.722G>T (p.Gly241Val) rs139417458 0.00101
NM_001113491.2(SEPTIN9):c.710G>A (p.Arg237Gln) rs200031107 0.00101
NM_001127649.3(PEX26):c.*113G>A rs199653646 0.00101
NM_003630.3(PEX3):c.578+8A>G rs200807211 0.00101
NM_003680.3(YARS1):c.-283G>A rs113748028 0.00101
NM_020312.4(COQ9):c.323T>G (p.Leu108Arg) rs11547480 0.00101
NM_000520.6(HEXA):c.1107C>T (p.Gly369=) rs140337137 0.00100
NM_002496.4(NDUFS8):c.459C>T (p.Cys153=) rs149201273 0.00100
NM_000487.6(ARSA):c.*729C>T rs191335867 0.00099
NM_001127649.3(PEX26):c.*133C>T rs200243782 0.00099
NM_003172.4(SURF1):c.211G>C (p.Val71Leu) rs147993882 0.00099
NM_004544.4(NDUFA10):c.*3095A>G rs576198967 0.00099
NM_014317.5(PDSS1):c.130-10G>T rs551306397 0.00099
NM_018444.4(PDP1):c.*1649_*1650insG rs886063184 0.00099
NM_024577.4(SH3TC2):c.*5277G>T rs529868327 0.00099
NM_001130823.3(DNMT1):c.*287T>C rs189422259 0.00098
NM_001303.4(COX10):c.981C>T (p.Asn327=) rs146175179 0.00098
NM_002047.2(GARS1):c.-69T>A rs527307703 0.00098
NM_002857.4(PEX19):c.459G>A (p.Leu153=) rs78340311 0.00098
NM_021625.5(TRPV4):c.854-4G>A rs371733585 0.00098
NM_033305.3(VPS13A):c.101-14T>G rs202024224 0.00098
NM_018972.4(GDAP1):c.*931A>G rs532787830 0.00097
NM_001122955.4(BSCL2):c.845C>T (p.Ala282Val) rs185341934 0.00096
NM_001127649.3(PEX26):c.*439C>G rs148217514 0.00096
NM_001376.5(DYNC1H1):c.5295A>G (p.Ala1765=) rs139919955 0.00096
NM_001605.3(AARS1):c.1332G>A (p.Glu444=) rs150442667 0.00096
NM_002180.3(IGHMBP2):c.2793C>T (p.Gly931=) rs139926138 0.00096
NM_005908.4(MANBA):c.*437A>T rs80064803 0.00096
NM_024577.4(SH3TC2):c.*9361C>T rs573872364 0.00096
NM_033305.3(VPS13A):c.5265C>T (p.Gly1755=) rs143021112 0.00096
NM_133259.4(LRPPRC):c.*1563C>T rs186518252 0.00096
NM_002529.4(NTRK1):c.1080G>A (p.Thr360=) rs2274498 0.00095
NM_003560.4(PLA2G6):c.*301G>A rs11570769 0.00095
NM_033305.3(VPS13A):c.*279A>T rs191865643 0.00095
NM_006415.4(SPTLC1):c.*1009G>T rs559735773 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_007103.4(NDUFV1):c.819C>T (p.Thr273=) rs150859374 0.00093
NM_033305.3(VPS13A):c.2814A>G (p.Pro938=) rs145346590 0.00093
NM_181882.3(PRX):c.3496C>T (p.Pro1166Ser) rs147826200 0.00093
NM_000284.4(PDHA1):c.*349A>G rs1013526559 0.00092
NM_001365536.1(SCN9A):c.*362C>T rs185832567 0.00092
NM_003560.4(PLA2G6):c.1615G>A (p.Gly539Ser) rs143826762 0.00092
NM_006096.4(NDRG1):c.*1300G>C rs557737109 0.00092
NM_000384.3(APOB):c.3712C>A (p.Leu1238Ile) rs72653078 0.00091
NM_001365536.1(SCN9A):c.*2191G>A rs201184093 0.00091
NM_002180.3(IGHMBP2):c.2355G>A (p.Arg785=) rs147954772 0.00091
NM_004544.4(NDUFA10):c.*2659A>C rs559550890 0.00091
NM_020631.6(PLEKHG5):c.918C>T (p.Asp306=) rs111624565 0.00091
NM_024577.4(SH3TC2):c.*19002A>G rs546701780 0.00091
NM_001303.4(COX10):c.93C>A (p.Asp31Glu) rs141481210 0.00090
NM_002778.4(PSAP):c.174+9C>T rs141133813 0.00090
NM_003630.3(PEX3):c.165A>G (p.Gln55=) rs41285015 0.00090
NM_006415.4(SPTLC1):c.*178T>A rs184220566 0.00090
NM_133259.4(LRPPRC):c.*1872C>T rs147686285 0.00090
NM_001351132.2(PEX5):c.*462G>C rs75145323 0.00089
NM_001386140.1(MTTP):c.*694A>C rs187658213 0.00089
NM_004863.3(SPTLC2):c.-181C>G rs538010560 0.00089
NM_014874.4(MFN2):c.150C>A (p.Ile50=) rs78841746 0.00089
NM_001122955.4(BSCL2):c.88-674G>T rs549450153 0.00088
NM_001376.5(DYNC1H1):c.13764G>A (p.Thr4588=) rs35079638 0.00088
NM_001605.3(AARS1):c.2608-6C>A rs200965527 0.00088
NM_005908.4(MANBA):c.479G>A (p.Arg160His) rs144917953 0.00088
NM_024577.4(SH3TC2):c.*9830C>T rs557247993 0.00088
NM_024577.4(SH3TC2):c.1298C>T (p.Ser433Leu) rs200967041 0.00088
NM_000520.6(HEXA):c.1527-6T>C rs199914308 0.00087
NM_001376.5(DYNC1H1):c.10065T>C (p.Ser3355=) rs80096622 0.00087
NM_007103.4(NDUFV1):c.597C>T (p.Arg199=) rs151104852 0.00087
NM_014874.4(MFN2):c.891C>T (p.Ala297=) rs11554508 0.00087
NM_000081.4(LYST):c.2769A>C (p.Ser923=) rs112739986 0.00086
NM_000081.4(LYST):c.8027G>T (p.Ser2676Ile) rs113209379 0.00086
NM_000217.3(KCNA1):c.-235C>A rs113587682 0.00086
NM_001079866.2(BCS1L):c.1000G>A (p.Val334Ile) rs146731467 0.00086
NM_001113491.2(SEPTIN9):c.*417C>T rs758432689 0.00086
NM_001131025.1(PEX5):c.*1251G>A rs538222740 0.00086
NM_001136472.2(LITAF):c.146C>T (p.Thr49Met) rs141862602 0.00086
NM_001370658.1(BTD):c.1041C>T (p.Gly347=) rs142421934 0.00086
NM_004082.5(DCTN1):c.3498G>A (p.Thr1166=) rs142030960 0.00086
NM_014845.6(FIG4):c.1584-8T>A rs199522051 0.00086
NM_024577.4(SH3TC2):c.*18699T>G rs117371981 0.00086
NM_024577.4(SH3TC2):c.689T>C (p.Val230Ala) rs148634904 0.00086
NM_000288.4(PEX7):c.615C>T (p.Asp205=) rs147298444 0.00085
NM_001005361.3(DNM2):c.*607G>A rs117954916 0.00085
NM_002180.3(IGHMBP2):c.2322A>G (p.Glu774=) rs11228414 0.00085
NM_004637.6(RAB7A):c.*85A>G rs549333234 0.00085
NM_020247.5(COQ8A):c.*425G>T rs552968994 0.00085
NM_033305.3(VPS13A):c.*933A>G rs561135773 0.00085
NM_001042472.2(ABHD12):c.-221G>A rs879795178 0.00084
NM_002857.4(PEX19):c.*1069G>A rs542626903 0.00084
NM_006096.4(NDRG1):c.*31T>G rs573564976 0.00084
NM_024577.4(SH3TC2):c.*4131T>C rs141113906 0.00084
NM_133259.4(LRPPRC):c.*577G>T rs183378286 0.00084
NM_000784.4(CYP27A1):c.703G>A (p.Glu235Lys) rs149897566 0.00083
NM_001127649.3(PEX26):c.728C>T (p.Ala243Val) rs149153003 0.00083
NM_004637.6(RAB7A):c.*274G>A rs565849348 0.00083
NM_007103.4(NDUFV1):c.366G>A (p.Pro122=) rs140445386 0.00083
NM_014874.4(MFN2):c.1452G>A (p.Thr484=) rs150043585 0.00083
NM_024577.4(SH3TC2):c.3315G>A (p.Val1105=) rs375970910 0.00083
NM_000925.4(PDHB):c.288T>C (p.Ala96=) rs138128142 0.00082
NM_001113491.2(SEPTIN9):c.*1204A>G rs568078300 0.00082
NM_003477.3(PDHX):c.579A>G (p.Glu193=) rs61752926 0.00082
NM_024577.4(SH3TC2):c.*12111C>A rs930165203 0.00082
NM_001303.4(COX10):c.302C>T (p.Pro101Leu) rs145948285 0.00081
NM_001365536.1(SCN9A):c.684C>G (p.Ile228Met) rs71428908 0.00081
NM_002496.4(NDUFS8):c.19C>A (p.Pro7Thr) rs142658611 0.00081
NM_006158.5(NEFL):c.1402G>A (p.Asp468Asn) rs57153321 0.00081
NM_024577.4(SH3TC2):c.*10113T>C rs908427102 0.00081
NM_000108.5(DLD):c.788G>A (p.Arg263His) rs145670503 0.00080
NM_000521.4(HEXB):c.1082+13C>T rs201428805 0.00080
NM_001131025.1(PEX5):c.*1259G>C rs148385560 0.00080
NM_078470.6(COX15):c.*1851G>T rs754063121 0.00080
NM_002857.4(PEX19):c.*1802G>C rs745362133 0.00079
NM_024577.4(SH3TC2):c.*711A>C rs567593663 0.00079
NM_000217.3(KCNA1):c.1327C>G (p.Arg443Gly) rs150849316 0.00078
NM_000384.3(APOB):c.1470+15T>C rs185550846 0.00078
NM_000399.5(EGR2):c.246C>G (p.Val82=) rs144217451 0.00078
NM_001127649.3(PEX26):c.*1922C>T rs181819830 0.00078
NM_001376.5(DYNC1H1):c.2719-6C>T rs199763298 0.00078
NM_006308.2(HSPB3):c.-129C>T rs577774043 0.00078
NM_015046.7(SETX):c.192A>G (p.Leu64=) rs117326462 0.00078
NM_015046.7(SETX):c.5949+5G>A rs374656811 0.00078
NM_018972.4(GDAP1):c.*751A>G rs544136357 0.00078
NM_181882.3(PRX):c.2548C>G (p.Pro850Ala) rs141686828 0.00078
NM_001365536.1(SCN9A):c.3020G>A (p.Arg1007His) rs188145203 0.00077
NM_021625.5(TRPV4):c.*190C>T rs141636597 0.00077
NM_024577.4(SH3TC2):c.*16378C>A rs144423228 0.00077
NM_001370298.3(FGD4):c.167-62008C>A rs187553815 0.00076
NM_002180.3(IGHMBP2):c.1060+8G>T rs201147313 0.00076
NM_002778.4(PSAP):c.714C>G (p.Ala238=) rs141199649 0.00076
NM_005908.4(MANBA):c.2246T>A (p.Leu749His) rs142248415 0.00076
NM_024577.4(SH3TC2):c.*1917C>T rs561485632 0.00076
NM_004168.4(SDHA):c.1002G>A (p.Ala334=) rs144252500 0.00075
NM_000487.6(ARSA):c.*1213T>G rs886057649 0.00074
NM_000530.8(MPZ):c.504G>A (p.Val168=) rs145592910 0.00074
NM_001127649.3(PEX26):c.*2195A>G rs565621911 0.00074
NM_014874.4(MFN2):c.*1546G>A rs3737960 0.00074
NM_016156.6(MTMR2):c.*212A>C rs372852182 0.00074
NM_024577.4(SH3TC2):c.*4713G>A rs191742061 0.00074
NM_133259.4(LRPPRC):c.1928A>G (p.His643Arg) rs148575027 0.00074
NM_000081.4(LYST):c.10235G>A (p.Arg3412His) rs148409403 0.00073
NM_000158.4(GBE1):c.*468G>A rs750772386 0.00073
NM_000274.4(OAT):c.1224T>C (p.His408=) rs201864147 0.00073
NM_018972.4(GDAP1):c.*1430T>A rs538689570 0.00073
NM_024577.4(SH3TC2):c.*9504G>A rs17722113 0.00073
NM_078470.6(COX15):c.*1850G>T rs755134012 0.00073
NM_001605.3(AARS1):c.2185C>T (p.Arg729Trp) rs138081804 0.00072
NM_004544.4(NDUFA10):c.*3347C>T rs537694779 0.00072
NM_012073.5(CCT5):c.*776T>C rs553660590 0.00072
NM_014365.3(HSPB8):c.499G>A (p.Glu167Lys) rs148514935 0.00072
NM_020312.4(COQ9):c.*622A>G rs534696904 0.00072
NM_024577.4(SH3TC2):c.*11589C>T rs189059447 0.00072
NM_024577.4(SH3TC2):c.*9503C>T rs533786708 0.00072
NM_000158.4(GBE1):c.1492G>A (p.Glu498Lys) rs201758548 0.00071
NM_000182.5(HADHA):c.*355C>T rs539549041 0.00071
NM_020312.4(COQ9):c.*100C>T rs373048666 0.00071
NM_021625.5(TRPV4):c.2472G>A (p.Ser824=) rs149988106 0.00071
NM_000153.4(GALC):c.-67T>G rs571945132 0.00070
NM_000274.4(OAT):c.48C>T (p.Arg16=) rs143526711 0.00070
NM_001113491.2(SEPTIN9):c.914-4C>T rs199809734 0.00070
NM_003560.4(PLA2G6):c.*541C>T rs45473603 0.00070
NM_004082.5(DCTN1):c.1504C>A (p.Arg502Ser) rs145958900 0.00070
NM_024577.4(SH3TC2):c.*17662T>C rs556308084 0.00070
NM_000304.4(PMP22):c.79-6C>T rs201682989 0.00069
NM_000466.3(PEX1):c.3216T>C (p.Ser1072=) rs140963147 0.00069
NM_016156.6(MTMR2):c.1805C>G (p.Ala602Gly) rs76784113 0.00069
NM_024407.5(NDUFS7):c.*16C>T rs573586959 0.00069
NM_078470.6(COX15):c.*2193A>T rs557527426 0.00069
NM_000158.4(GBE1):c.*555G>A rs143820392 0.00068
NM_000284.4(PDHA1):c.*432C>T rs754719295 0.00068
NM_001113491.2(SEPTIN9):c.76+12407G>A rs765972765 0.00068
NM_001365536.1(SCN9A):c.-126G>C rs200099565 0.00068
NM_001374736.1(DST):c.2504G>A (p.Arg835His) rs41267671 0.00068
NM_003477.3(PDHX):c.-23C>A rs201033364 0.00068
NM_005908.4(MANBA):c.*8T>G rs199881261 0.00068
NM_012073.5(CCT5):c.954C>T (p.Asn318=) rs150870419 0.00068
NM_000287.4(PEX6):c.853C>G (p.Pro285Ala) rs61753220 0.00067
NM_000370.3(TTPA):c.*776C>T rs886063063 0.00067
NM_001130823.3(DNMT1):c.2472G>A (p.Thr824=) rs45484792 0.00067
NM_001605.3(AARS1):c.1044G>C (p.Thr348=) rs181264712 0.00067
NM_002857.4(PEX19):c.498T>G (p.Asp166Glu) rs142780305 0.00067
NM_024577.4(SH3TC2):c.*11427G>A rs535822101 0.00067
NM_078470.6(COX15):c.*1716G>A rs186244558 0.00067
NM_000143.4(FH):c.105G>A (p.Ser35=) rs181655698 0.00066
NM_000253.3(MTTP):c.-214G>A rs569667113 0.00066
NM_001130823.3(DNMT1):c.731G>A (p.Gly244Glu) rs150999369 0.00066
NM_001723.7(DST):c.3436A>G (p.Met1146Val) rs148413592 0.00066
NM_003172.4(SURF1):c.54+9C>G rs587675928 0.00066
NM_003560.2(PLA2G6):c.*672G>A rs572000246 0.00066
NM_003680.4(YARS1):c.*21C>A rs149812692 0.00066
NM_003680.4(YARS1):c.1015G>A (p.Ala339Thr) rs141323599 0.00066
NM_020631.6(PLEKHG5):c.*285C>T rs572888702 0.00066
NM_024577.4(SH3TC2):c.*10111T>C rs943889013 0.00066
NM_133259.4(LRPPRC):c.-11A>G rs188424940 0.00066
NM_133259.4(LRPPRC):c.1426A>G (p.Thr476Ala) rs115507225 0.00066
NM_000466.3(PEX1):c.3373A>T (p.Met1125Leu) rs142994610 0.00065
NM_001005373.4(LRSAM1):c.1974T>C (p.Ser658=) rs140336379 0.00065
NM_001351132.2(PEX5):c.-53T>C rs770339670 0.00065
NM_001605.3(AARS1):c.2580G>A (p.Leu860=) rs145581652 0.00065
NM_001723.7(DST):c.5930C>G (p.Thr1977Arg) rs148856756 0.00065
NM_002180.3(IGHMBP2):c.548-10T>G rs139207271 0.00065
NM_002180.3(IGHMBP2):c.767C>G (p.Ala256Gly) rs148095551 0.00065
NM_002496.3(NDUFS8):c.-76C>T rs544094420 0.00065
NM_006096.4(NDRG1):c.-64G>A rs886062717 0.00065
NM_006158.5(NEFL):c.639C>G (p.Ile213Met) rs62636522 0.00065
NM_198252.3(GSN):c.*185G>A rs757682798 0.00065
NM_001005373.4(LRSAM1):c.406+15G>T rs201808404 0.00064
NM_001376.5(DYNC1H1):c.*194C>T rs566606862 0.00064
NM_006096.4(NDRG1):c.-123T>G rs886062718 0.00064
NM_006308.3(HSPB3):c.-89T>C rs186550955 0.00064
NM_007103.4(NDUFV1):c.-45T>G rs373940385 0.00064
NM_007103.4(NDUFV1):c.563G>A (p.Gly188Asp) rs142982022 0.00064
NM_000304.4(PMP22):c.*200T>G rs142106420 0.00063
NM_000318.3(PEX2):c.*1765G>A rs60300869 0.00063
NM_001127649.3(PEX26):c.643G>A (p.Glu215Lys) rs138232280 0.00063
NM_001376.5(DYNC1H1):c.3495T>C (p.Asp1165=) rs144359313 0.00063
NM_002047.4(GARS1):c.699C>T (p.Val233=) rs187937286 0.00063
NM_002618.4(PEX13):c.*216T>C rs146980377 0.00063
NM_004544.4(NDUFA10):c.*1303C>T rs575940810 0.00063
NM_004544.4(NDUFA10):c.*2297T>G rs773090030 0.00063
NM_004589.4(SCO1):c.*81A>G rs140538532 0.00063
NM_198252.3(GSN):c.1663G>A (p.Val555Met) rs151208452 0.00063
NM_000158.4(GBE1):c.24G>A (p.Ala8=) rs28763906 0.00062
NM_000217.3(KCNA1):c.*3588T>C rs535813845 0.00062
NM_000521.4(HEXB):c.1417+11C>T rs146572414 0.00062
NM_002180.3(IGHMBP2):c.1551C>T (p.Leu517=) rs150549628 0.00062
NM_018972.4(GDAP1):c.*2210C>T rs571939530 0.00062
NM_000081.4(LYST):c.8368A>C (p.Lys2790Gln) rs138506576 0.00061
NM_000284.4(PDHA1):c.*321C>T rs886566327 0.00061
NM_000284.4(PDHA1):c.97G>C (p.Asp33His) rs150318528 0.00061
NM_000487.6(ARSA):c.-131G>A rs551316995 0.00061
NM_001122955.4(BSCL2):c.124C>T (p.Arg42Cys) rs201493373 0.00061
NM_001365536.1(SCN9A):c.4315G>A (p.Val1439Ile) rs149346064 0.00061
NM_002180.3(IGHMBP2):c.1290C>T (p.Tyr430=) rs140654955 0.00061
NM_002529.4(NTRK1):c.*56C>G rs773036874 0.00061
NM_004863.4(SPTLC2):c.*2966G>A rs369681276 0.00061
NM_024577.4(SH3TC2):c.*20935C>G rs769773057 0.00061
NM_033305.3(VPS13A):c.2201G>A (p.Ser734Asn) rs117320408 0.00061
NM_033305.3(VPS13A):c.6096-7C>T rs190144287 0.00061
NM_000487.6(ARSA):c.*103C>T rs146160737 0.00060
NM_004168.4(SDHA):c.133G>A (p.Ala45Thr) rs140736646 0.00060
NM_014874.4(MFN2):c.-4-13G>T rs373679523 0.00060
NM_001365536.1(SCN9A):c.1464C>T (p.Leu488=) rs200682458 0.00059
NM_001365536.1(SCN9A):c.1555G>A (p.Glu519Lys) rs187453572 0.00059
NM_001374736.1(DST):c.4930-430A>G rs140470023 0.00059
NM_001376.5(DYNC1H1):c.12258C>T (p.Thr4086=) rs141242095 0.00059
NM_001376.5(DYNC1H1):c.5050-15T>C rs190979027 0.00059
NM_001376.5(DYNC1H1):c.5985C>T (p.Ala1995=) rs140841480 0.00059
NM_005908.4(MANBA):c.531T>C (p.His177=) rs149902075 0.00059
NM_014874.4(MFN2):c.1495+9C>T rs375494746 0.00059
NM_030962.4(SBF2):c.1424A>G (p.Gln475Arg) rs199894823 0.00059
NM_030962.4(SBF2):c.3824G>A (p.Arg1275His) rs150028248 0.00059
NM_181882.3(PRX):c.1964C>T (p.Pro655Leu) rs118003416 0.00059
NM_000081.4(LYST):c.2363+10dup rs760632806 0.00058
NM_000182.5(HADHA):c.1212G>C (p.Val404=) rs116396996 0.00058
NM_000284.4(PDHA1):c.604-10C>T rs201754585 0.00058
NM_000466.3(PEX1):c.-43T>G rs572810743 0.00058
NM_001079866.2(BCS1L):c.-50+458T>G rs188224298 0.00058
NM_001127649.3(PEX26):c.*2449C>T rs140919342 0.00058
NM_001136472.2(LITAF):c.377+13C>G rs200357430 0.00058
NM_001370298.3(FGD4):c.*3994A>G rs567853773 0.00058
NM_001374736.1(DST):c.2042G>A (p.Arg681His) rs143101723 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_004589.4(SCO1):c.868A>G (p.Ile290Val) rs139771078 0.00058
NM_014365.3(HSPB8):c.233G>T (p.Arg78Met) rs55826713 0.00058
NM_015046.7(SETX):c.2479A>G (p.Lys827Glu) rs150532677 0.00058
NM_020247.5(COQ8A):c.67G>A (p.Val23Met) rs35582308 0.00058
NM_020312.4(COQ9):c.*492C>T rs550304608 0.00058
NM_021625.5(TRPV4):c.549G>A (p.Glu183=) rs141908793 0.00058
NM_022041.4(GAN):c.*1029C>T rs189688967 0.00058
NM_181882.3(PRX):c.1625G>A (p.Arg542Gln) rs139586219 0.00058
NM_198252.3(GSN):c.1555G>A (p.Ala519Thr) rs147554026 0.00058
NM_001195248.2(APTX):c.134-12A>C rs113391831 0.00057
NM_004565.3(PEX14):c.474C>A (p.Ser158Arg) rs145867351 0.00057
NM_005006.7(NDUFS1):c.*438C>T rs561980718 0.00057
NM_020631.6(PLEKHG5):c.-113C>A rs190848227 0.00057
NM_024577.4(SH3TC2):c.*6993T>C rs563203537 0.00057
NM_198252.3(GSN):c.1931C>T (p.Thr644Met) rs144434647 0.00057
NM_000286.3(PEX12):c.-427G>A rs531286605 0.00056
NM_001351132.2(PEX5):c.*110G>A rs775495288 0.00056
NM_001365536.1(SCN9A):c.2392A>G (p.Met798Val) rs149707354 0.00056
NM_001365536.1(SCN9A):c.3002A>G (p.Tyr1001Cys) rs199692186 0.00056
NM_001376.5(DYNC1H1):c.10440G>A (p.Lys3480=) rs138887857 0.00056
NM_001376.5(DYNC1H1):c.8784A>G (p.Gln2928=) rs149753029 0.00056
NM_001605.3(AARS1):c.600C>T (p.Ala200=) rs150080663 0.00056
NM_003477.3(PDHX):c.161-6T>C rs200438675 0.00056
NM_003680.3(YARS1):c.-269C>T rs772899682 0.00056
NM_004168.4(SDHA):c.550G>A (p.Gly184Arg) rs148246073 0.00056
NM_006096.3(NDRG1):c.-157C>T rs545130040 0.00056
NM_000466.3(PEX1):c.2792C>A (p.Ala931Asp) rs144825021 0.00055
NM_000487.6(ARSA):c.*1969C>A rs556167510 0.00055
NM_002778.4(PSAP):c.41-13G>C rs138010978 0.00055
NM_004813.4(PEX16):c.*175C>A rs375099703 0.00055
NM_004863.4(SPTLC2):c.1239T>C (p.Pro413=) rs140041902 0.00055
NM_007103.4(NDUFV1):c.1075C>T (p.Arg359Cys) rs142499054 0.00055
NM_174936.4(PCSK9):c.847C>A (p.Leu283Met) rs72646510 0.00055
NM_000153.4(GALC):c.*1451C>A rs138919458 0.00054
NM_000274.4(OAT):c.1311G>T (p.Leu437Phe) rs1800456 0.00054
NM_000288.4(PEX7):c.418-4G>T rs199552223 0.00054
NM_000520.5(HEXA):c.-136G>A rs561320483 0.00054
NM_001005373.4(LRSAM1):c.1860C>T (p.His620=) rs147734401 0.00054
NM_004544.4(NDUFA10):c.*1482C>G rs557576958 0.00054
NM_012073.5(CCT5):c.*882C>G rs529512144 0.00054
NM_030962.4(SBF2):c.3290C>A (p.Thr1097Asn) rs141894081 0.00054
NM_000217.3(KCNA1):c.*4739C>T rs575527417 0.00053
NM_000784.4(CYP27A1):c.276C>T (p.Tyr92=) rs141519183 0.00053
NM_001005373.4(LRSAM1):c.*121C>T rs899262383 0.00053
NM_001113491.2(SEPTIN9):c.76+12764G>A rs769442066 0.00053
NM_001376.5(DYNC1H1):c.345-10T>G rs202110844 0.00053
NM_002047.2(GARS1):c.-237A>C rs540431164 0.00053
NM_002180.3(IGHMBP2):c.2360C>T (p.Pro787Leu) rs141594765 0.00053
NM_002617.4(PEX10):c.*854G>A rs556816263 0.00053
NM_002857.4(PEX19):c.-4C>T rs201541204 0.00053
NM_003680.4(YARS1):c.*386G>T rs144131403 0.00053
NM_014874.4(MFN2):c.756C>T (p.Asn252=) rs137960129 0.00053
NM_016156.6(MTMR2):c.1336G>A (p.Glu446Lys) rs146572467 0.00053
NM_018319.4(TDP1):c.*1430G>C rs34513682 0.00053
NM_021625.5(TRPV4):c.2304G>C (p.Ser768=) rs138986228 0.00053
NM_022124.6(CDH23):c.9942G>A (p.Thr3314=) rs376804660 0.00053
NM_000081.4(LYST):c.8806G>A (p.Val2936Ile) rs2753327 0.00052
NM_000108.5(DLD):c.*1307C>T rs568807016 0.00052
NM_000318.3(PEX2):c.*2057G>A rs568202276 0.00052
NM_001042472.3(ABHD12):c.*331G>A rs927058842 0.00052
NM_001136472.2(LITAF):c.6G>A (p.Ser2=) rs147187481 0.00052
NM_001365536.1(SCN9A):c.3402G>T (p.Leu1134Phe) rs200160858 0.00052
NM_002617.4(PEX10):c.*10C>T rs367845280 0.00052
NM_005006.7(NDUFS1):c.*151T>C rs533179154 0.00052
NM_015046.7(SETX):c.4197A>G (p.Thr1399=) rs148078248 0.00052
NM_018972.4(GDAP1):c.*2463A>G rs9643686 0.00052
NM_020312.4(COQ9):c.71C>T (p.Pro24Leu) rs578214371 0.00052
NM_024577.4(SH3TC2):c.*10177T>A rs149759395 0.00052
NM_024577.4(SH3TC2):c.*1765G>C rs144178710 0.00052
NM_024577.4(SH3TC2):c.*21539T>C rs542529184 0.00052
NM_030962.4(SBF2):c.1408C>A (p.Pro470Thr) rs149967939 0.00052
NM_133259.4(LRPPRC):c.2118A>G (p.Glu706=) rs118188415 0.00052
NM_181882.3(PRX):c.2728G>A (p.Ala910Thr) rs145203783 0.00052
NM_000143.4(FH):c.77C>T (p.Pro26Leu) rs187226800 0.00051
NM_000487.6(ARSA):c.-159C>T rs6151407 0.00051
NM_000521.4(HEXB):c.715G>A (p.Val239Ile) rs145056714 0.00051
NM_000925.4(PDHB):c.701-3C>T rs377063331 0.00051
NM_002495.4(NDUFS4):c.150A>G (p.Thr50=) rs142368721 0.00051
NM_002778.4(PSAP):c.88G>T (p.Ala30Ser) rs144942998 0.00051
NM_003680.3(YARS1):c.-129C>A rs560979597 0.00051
NM_004082.5(DCTN1):c.3643C>G (p.Pro1215Ala) rs184147813 0.00051
NM_004813.2(PEX16):c.-184A>G rs745333570 0.00051
NM_004863.4(SPTLC2):c.1449A>T (p.Gly483=) rs149054777 0.00051
NM_012073.5(CCT5):c.*1042T>C rs376234447 0.00051
NM_012073.5(CCT5):c.*1087A>T rs190835896 0.00051
NM_015046.7(SETX):c.5473A>G (p.Thr1825Ala) rs151046729 0.00051
NM_015046.7(SETX):c.7914C>T (p.Phe2638=) rs80296256 0.00051
NM_018319.4(TDP1):c.*945C>T rs540904390 0.00051
NM_021625.5(TRPV4):c.769C>G (p.Leu257Val) rs56217500 0.00051
NM_022041.4(GAN):c.730A>G (p.Ile244Val) rs200749953 0.00051
NM_024577.4(SH3TC2):c.3550A>G (p.Met1184Val) rs142451273 0.00051
NM_133259.4(LRPPRC):c.74G>A (p.Arg25His) rs780400922 0.00051
NM_170707.4(LMNA):c.-128T>C rs80356803 0.00051
NM_000182.5(HADHA):c.652G>C (p.Val218Leu) rs71441018 0.00050
NM_000520.6(HEXA):c.-4G>A rs766510036 0.00050
NM_003477.3(PDHX):c.674C>T (p.Thr225Met) rs148645836 0.00050
NM_012073.5(CCT5):c.*1294A>G rs534017480 0.00050
NM_000081.4(LYST):c.3083C>G (p.Ser1028Cys) rs150636017 0.00049
NM_001034850.3(RETREG1):c.6G>C (p.Ala2=) rs750740230 0.00049
NM_001113491.2(SEPTIN9):c.*1847G>A rs535971752 0.00049
NM_001303.4(COX10):c.909C>T (p.Ala303=) rs370260574 0.00049
NM_002180.3(IGHMBP2):c.*6C>T rs117995705 0.00049
NM_002180.3(IGHMBP2):c.2176G>A (p.Val726Met) rs143986510 0.00049
NM_002529.4(NTRK1):c.1252-15C>G rs186649954 0.00049
NM_004168.4(SDHA):c.723C>T (p.Asp241=) rs146653693 0.00049
NM_004863.4(SPTLC2):c.*4108G>A rs140701933 0.00049
NM_005006.7(NDUFS1):c.*938C>T rs780498090 0.00049
NM_006329.4(FBLN5):c.*363C>T rs536827304 0.00049
NM_012073.5(CCT5):c.*1603G>A rs150385942 0.00049
NM_014874.3(MFN2):c.-359C>G rs997846275 0.00049
NM_000318.3(PEX2):c.*2004C>T rs117344716 0.00048
NM_001351132.2(PEX5):c.1587C>T (p.Gly529=) rs144401814 0.00048
NM_001365536.1(SCN9A):c.3167A>G (p.Lys1056Arg) rs200560768 0.00048
NM_002495.4(NDUFS4):c.10G>C (p.Val4Leu) rs185711494 0.00048
NM_004863.4(SPTLC2):c.*4030T>G rs185596488 0.00048
NM_022041.4(GAN):c.*32C>A rs200964845 0.00048
NM_024577.4(SH3TC2):c.*9969_*9972del rs113518050 0.00048
NM_030962.4(SBF2):c.5037C>T (p.Arg1679=) rs200784979 0.00048
NM_000399.5(EGR2):c.*646C>T rs555024997 0.00047
NM_000487.6(ARSA):c.*1212T>G rs868201030 0.00047
NM_001351132.2(PEX5):c.1814G>A (p.Ser605Asn) rs146567534 0.00047
NM_001723.7(DST):c.6868A>G (p.Arg2290Gly) rs112473525 0.00047
NM_002618.4(PEX13):c.*1649C>T rs1042646135 0.00047
NM_004565.3(PEX14):c.78G>A (p.Glu26=) rs144664869 0.00047
NM_014874.3(MFN2):c.-382G>A rs568548916 0.00047
NM_181882.3(PRX):c.1651G>A (p.Val551Met) rs61733448 0.00047
NM_000081.4(LYST):c.10526G>A (p.Arg3509Gln) rs138936105 0.00046
NM_000108.5(DLD):c.*1791_*1794del rs760145994 0.00046
NM_000217.3(KCNA1):c.*2848A>G rs562792530 0.00046
NM_000274.3(OAT):c.-83A>G rs969985784 0.00046
NM_000274.4(OAT):c.1015-6A>G rs561800688 0.00046
NM_000318.3(PEX2):c.*233C>G rs190595998 0.00046
NM_000318.3(PEX2):c.282A>T (p.Arg94Ser) rs140963177 0.00046
NM_000370.3(TTPA):c.178G>A (p.Asp60Asn) rs199636231 0.00046
NM_000487.6(ARSA):c.465+1G>A rs80338815 0.00046
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309 0.00046
NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu) rs28942073 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_001370298.3(FGD4):c.*5309C>T rs556209722 0.00046
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685 0.00046
NM_002180.3(IGHMBP2):c.344C>T (p.Thr115Met) rs181657861 0.00046
NM_002618.4(PEX13):c.*1998T>C rs559684247 0.00046
NM_004082.5(DCTN1):c.279+8C>T rs376401397 0.00046
NM_004168.4(SDHA):c.163T>C (p.Tyr55His) rs142926807 0.00046
NM_004863.4(SPTLC2):c.*2794C>T rs191989490 0.00046
NM_004863.4(SPTLC2):c.*2962C>T rs561137941 0.00046
NM_004863.4(SPTLC2):c.*3261C>A rs566911644 0.00046
NM_004863.4(SPTLC2):c.*365A>G rs532673076 0.00046
NM_006415.4(SPTLC1):c.*750C>T rs768395365 0.00046
NM_015046.7(SETX):c.*1803G>A rs556145432 0.00046
NM_021830.5(TWNK):c.*709C>G rs41291470 0.00046
NM_024577.4(SH3TC2):c.*9953C>T rs535186520 0.00046
NM_030962.4(SBF2):c.*875G>A rs886048776 0.00046
NM_030962.4(SBF2):c.5058A>T (p.Arg1686Ser) rs146230559 0.00046
NM_033305.3(VPS13A):c.7920A>G (p.Gln2640=) rs200387635 0.00046
NM_181882.3(PRX):c.2832T>C (p.Ala944=) rs145226687 0.00046
NM_000108.5(DLD):c.100A>G (p.Thr34Ala) rs138002793 0.00045
NM_001005373.4(LRSAM1):c.586G>A (p.Gly196Ser) rs148059394 0.00045
NM_001376.5(DYNC1H1):c.10908+10G>A rs201277756 0.00045
NM_001605.3(AARS1):c.2178-14G>A rs371633904 0.00045
NM_002617.4(PEX10):c.418G>C (p.Gly140Arg) rs76530653 0.00045
NM_014317.5(PDSS1):c.686C>G (p.Ser229Cys) rs142182789 0.00045
NM_014365.3(HSPB8):c.-201G>T rs764259720 0.00045
NM_020631.6(PLEKHG5):c.1236G>A (p.Thr412=) rs376823275 0.00045
NM_021830.5(TWNK):c.384C>T (p.Ser128=) rs148234280 0.00045
NM_174936.4(PCSK9):c.*1151del rs563024336 0.00045
NM_000304.4(PMP22):c.*173C>T rs117277951 0.00044
NM_001351132.2(PEX5):c.552-7G>A rs189631769 0.00044
NM_001370298.3(FGD4):c.*4831C>T rs145433607 0.00044
NM_001386140.1(MTTP):c.502-12C>T rs200628118 0.00044
NM_001953.5(TYMP):c.401C>T (p.Ala134Val) rs199901350 0.00044
NM_002857.4(PEX19):c.*1335G>T rs748536788 0.00044
NM_003560.4(PLA2G6):c.966C>T (p.His322=) rs144033740 0.00044
NM_004544.4(NDUFA10):c.*2149C>T rs570872300 0.00044
NM_022041.4(GAN):c.973+6G>A rs372665411 0.00044
NM_024577.4(SH3TC2):c.*2004A>G rs111746123 0.00044
NM_024577.4(SH3TC2):c.*7939C>A rs144288040 0.00044
NM_033305.3(VPS13A):c.2667+11C>T rs375898960 0.00044
NM_000081.4(LYST):c.3208A>G (p.Ile1070Val) rs150321124 0.00043
NM_000166.6(GJB1):c.-6G>A rs201344743 0.00043
NM_000318.3(PEX2):c.322G>C (p.Val108Leu) rs148101729 0.00043
NM_001005361.3(DNM2):c.788C>T (p.Pro263Leu) rs3745674 0.00043
NM_001365536.1(SCN9A):c.3801T>C (p.Asp1267=) rs202047865 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_003680.4(YARS1):c.*539A>G rs550239801 0.00043
NM_006158.5(NEFL):c.*1293A>G rs573350915 0.00043
NM_020247.5(COQ8A):c.258A>C (p.Ala86=) rs137872711 0.00043
NM_021625.5(TRPV4):c.152C>T (p.Pro51Leu) rs115861965 0.00043
NM_021625.5(TRPV4):c.1539C>T (p.Gly513=) rs141295418 0.00043
NM_024577.4(SH3TC2):c.*12710G>A rs537800973 0.00043
NM_024577.4(SH3TC2):c.2812C>T (p.His938Tyr) rs144688852 0.00043
NM_030962.4(SBF2):c.*631T>C rs573284772 0.00043
NM_033305.3(VPS13A):c.*185A>G rs773434698 0.00043
NM_000304.4(PMP22):c.*542C>T rs184928176 0.00042
NM_000520.6(HEXA):c.*436C>T rs112626309 0.00042
NM_001042472.3(ABHD12):c.203T>C (p.Val68Ala) rs140967031 0.00042
NM_001195248.2(APTX):c.18G>T (p.Trp6Cys) rs144076460 0.00042
NM_001376.5(DYNC1H1):c.13181C>T (p.Thr4394Met) rs149300055 0.00042
NM_003477.3(PDHX):c.*743G>A rs577162977 0.00042
NM_004863.4(SPTLC2):c.*3666T>G rs146602683 0.00042
NM_021625.5(TRPV4):c.1093G>A (p.Val365Met) rs570675468 0.00042
NM_030962.4(SBF2):c.*1439C>A rs531522907 0.00042
NM_030962.4(SBF2):c.*1441C>T rs562275980 0.00042
NM_181882.3(PRX):c.966G>T (p.Val322=) rs139544245 0.00042
NM_000287.4(PEX6):c.1234-11A>G rs201879957 0.00041
NM_001034850.3(RETREG1):c.*1641A>G rs778191948 0.00041
NM_001351132.2(PEX5):c.*1134T>A rs769928491 0.00041
NM_001365536.1(SCN9A):c.4923T>C (p.Leu1641=) rs199550149 0.00041
NM_001370298.3(FGD4):c.*3037C>A rs886049267 0.00041
NM_001374736.1(DST):c.4638+7A>T rs185349093 0.00041
NM_001605.3(AARS1):c.1428G>C (p.Arg476=) rs80257731 0.00041
NM_002180.3(IGHMBP2):c.2026G>A (p.Gly676Arg) rs149577588 0.00041
NM_002857.4(PEX19):c.254C>T (p.Ala85Val) rs11550119 0.00041
NM_003560.4(PLA2G6):c.2068G>A (p.Val690Ile) rs141777179 0.00041
NM_004813.4(PEX16):c.149-6C>T rs78883829 0.00041
NM_006415.4(SPTLC1):c.120C>G (p.Phe40Leu) rs142153571 0.00041
NM_012073.4(CCT5):c.-125A>G rs552002776 0.00041
NM_015046.7(SETX):c.*1454C>G rs561712582 0.00041
NM_020247.5(COQ8A):c.1399-13G>A rs73087649 0.00041
NM_020631.6(PLEKHG5):c.33T>C (p.Leu11=) rs144859183 0.00041
NM_020631.6(PLEKHG5):c.719A>G (p.Asp240Gly) rs199794578 0.00041
NM_021625.5(TRPV4):c.1491+10C>T rs201815805 0.00041
NM_021830.5(TWNK):c.76G>A (p.Gly26Ser) rs577209883 0.00041
NM_024577.4(SH3TC2):c.*6350G>A rs184940808 0.00041
NM_024577.4(SH3TC2):c.*6820T>C rs60176324 0.00041
NM_133259.4(LRPPRC):c.4078G>A (p.Ala1360Thr) rs147302249 0.00041
NM_181882.3(PRX):c.2101G>A (p.Val701Met) rs116855701 0.00041
NM_198252.3(GSN):c.271C>T (p.Arg91Trp) rs146956976 0.00041
NM_000108.5(DLD):c.*1857A>C rs774099916 0.00040
NM_000166.6(GJB1):c.*309G>A rs181881705 0.00040
NM_000217.3(KCNA1):c.*1012A>T rs886049519 0.00040
NM_000370.3(TTPA):c.452G>A (p.Arg151Gln) rs150710403 0.00040
NM_000371.4(TTR):c.328C>A (p.His110Asn) rs121918074 0.00040
NM_000466.3(PEX1):c.2718+3A>G rs370536529 0.00040
NM_001386140.1(MTTP):c.1023A>G (p.Lys341=) rs145724674 0.00040
NM_002496.4(NDUFS8):c.*44C>T rs201815115 0.00040
NM_002529.4(NTRK1):c.1474G>A (p.Glu492Lys) rs144901788 0.00040
NM_002617.4(PEX10):c.816G>T (p.Leu272=) rs144440263 0.00040
NM_002618.4(PEX13):c.*263A>T rs558525565 0.00040
NM_003560.4(PLA2G6):c.101C>T (p.Ser34Leu) rs147948449 0.00040
NM_012073.5(CCT5):c.*841T>C rs180679435 0.00040
NM_012073.5(CCT5):c.440A>G (p.His147Arg) rs118203986 0.00040
NM_018972.4(GDAP1):c.556A>G (p.Ile186Val) rs148508128 0.00040
NM_021830.5(TWNK):c.*453G>A rs769950933 0.00040
NM_024577.4(SH3TC2):c.*4511T>C rs578024597 0.00040
NM_024577.4(SH3TC2):c.*9972T>C rs778531473 0.00040
NM_133259.4(LRPPRC):c.1842+10C>T rs373649496 0.00040
NM_000108.5(DLD):c.55C>G (p.Arg19Gly) rs144038427 0.00039
NM_000158.4(GBE1):c.1237-15C>T rs376809475 0.00039
NM_000274.4(OAT):c.*61A>G rs530505560 0.00039
NM_000399.5(EGR2):c.644C>T (p.Thr215Met) rs139147487 0.00039
NM_000487.6(ARSA):c.*2316C>T rs117951552 0.00039
NM_001005373.4(LRSAM1):c.1225C>G (p.Gln409Glu) rs149540339 0.00039
NM_001005373.4(LRSAM1):c.917T>G (p.Leu306Arg) rs140151379 0.00039
NM_001079866.2(BCS1L):c.126A>G (p.Ala42=) rs144200704 0.00039
NM_001127649.3(PEX26):c.*1509C>G rs571401889 0.00039
NM_001130823.3(DNMT1):c.981T>G (p.Ile327Met) rs61758431 0.00039
NM_001351132.2(PEX5):c.754-4G>A rs111286659 0.00039
NM_001365536.1(SCN9A):c.*3317A>G rs191667986 0.00039
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139 0.00039
NM_001374736.1(DST):c.2125A>G (p.Met709Val) rs142650835 0.00039
NM_001386140.1(MTTP):c.394-7C>T rs368989581 0.00039
NM_002618.4(PEX13):c.*1416G>T rs573040186 0.00039
NM_003477.3(PDHX):c.749C>T (p.Thr250Ile) rs146876119 0.00039
NM_004637.6(RAB7A):c.87G>A (p.Val29=) rs145441548 0.00039
NM_006096.4(NDRG1):c.944-13C>T rs753312340 0.00039
NM_007103.4(NDUFV1):c.155+12C>T rs199963966 0.00039
NM_014874.4(MFN2):c.1827C>T (p.Ser609=) rs138724074 0.00039
NM_015046.7(SETX):c.3826C>G (p.Gln1276Glu) rs148604312 0.00039
NM_015046.7(SETX):c.654G>C (p.Lys218Asn) rs117861188 0.00039
NM_018319.4(TDP1):c.1747A>G (p.Ser583Gly) rs201355368 0.00039
NM_022041.4(GAN):c.*1943T>C rs751490334 0.00039
NM_024577.4(SH3TC2):c.*1616C>T rs758753462 0.00039
NM_024577.4(SH3TC2):c.*2248A>G rs187399485 0.00039
NM_133259.4(LRPPRC):c.2020G>A (p.Glu674Lys) rs149243712 0.00039
NM_000081.4(LYST):c.1655T>C (p.Val552Ala) rs199617821 0.00038
NM_000217.3(KCNA1):c.1125C>T (p.Tyr375=) rs144351014 0.00038
NM_000466.3(PEX1):c.1360-4G>T rs199716270 0.00038
NM_001005361.3(DNM2):c.*88C>G rs886054143 0.00038
NM_001113491.2(SEPTIN9):c.*903C>T rs886053495 0.00038
NM_001130823.3(DNMT1):c.*253G>A rs768761819 0.00038
NM_001130823.3(DNMT1):c.2626G>A (p.Gly876Arg) rs62621087 0.00038
NM_001303.4(COX10):c.*859G>T rs974629254 0.00038
NM_001365536.1(SCN9A):c.4399-14G>T rs112927502 0.00038
NM_001605.3(AARS1):c.741G>A (p.Leu247=) rs148075561 0.00038
NM_002496.4(NDUFS8):c.200-14C>T rs373128833 0.00038
NM_003560.4(PLA2G6):c.416G>A (p.Arg139His) rs141825182 0.00038
NM_004082.5(DCTN1):c.3610-14C>T rs757854575 0.00038
NM_006158.5(NEFL):c.*436T>G rs542234603 0.00038
NM_024577.4(SH3TC2):c.*15235A>G rs145210501 0.00038
NM_000143.3(FH):c.*266A>G rs113667027 0.00037
NM_000287.4(PEX6):c.*343G>C rs117055658 0.00037
NM_000287.4(PEX6):c.503C>T (p.Pro168Leu) rs200026148 0.00037
NM_000304.4(PMP22):c.-34-5C>T rs375105159 0.00037
NM_001376.5(DYNC1H1):c.738A>G (p.Gln246=) rs117189734 0.00037
NM_001953.5(TYMP):c.858G>A (p.Glu286=) rs372421189 0.00037
NM_002180.3(IGHMBP2):c.2872A>G (p.Asn958Asp) rs141873613 0.00037
NM_002529.4(NTRK1):c.*6C>T rs370807813 0.00037
NM_003630.3(PEX3):c.*1335A>G rs9403495 0.00037
NM_015046.7(SETX):c.1693T>C (p.Phe565Leu) rs143982186 0.00037
NM_022041.4(GAN):c.*2532T>C rs528796667 0.00037
NM_024577.4(SH3TC2):c.*9969T>C rs761191045 0.00037
NM_001005361.3(DNM2):c.*82C>T rs569502521 0.00036
NM_001034850.3(RETREG1):c.380G>A (p.Arg127His) rs200871433 0.00036
NM_001042472.3(ABHD12):c.1041C>T (p.Ile347=) rs188888939 0.00036
NM_001122955.4(BSCL2):c.823G>A (p.Gly275Arg) rs151018278 0.00036
NM_001351132.2(PEX5):c.*137C>T rs773375737 0.00036
NM_001365536.1(SCN9A):c.*159T>C rs201133173 0.00036
NM_001953.5(TYMP):c.1028T>G (p.Phe343Cys) rs762630777 0.00036
NM_001953.5(TYMP):c.995C>T (p.Ala332Val) rs778306525 0.00036
NM_002180.3(IGHMBP2):c.1422C>A (p.Asp474Glu) rs61731907 0.00036
NM_002857.4(PEX19):c.402T>C (p.Ser134=) rs139828188 0.00036
NM_003477.3(PDHX):c.640G>C (p.Glu214Gln) rs146445744 0.00036
NM_004376.7(COX15):c.-84G>A rs574143521 0.00036
NM_004544.4(NDUFA10):c.*1992C>T rs373034894 0.00036
NM_004813.4(PEX16):c.695-6C>T rs372182266 0.00036
NM_004863.4(SPTLC2):c.*4842A>C rs538809593 0.00036
NM_005138.3(SCO2):c.237G>A (p.Arg79=) rs150485659 0.00036
NM_015046.7(SETX):c.5283A>G (p.Gln1761=) rs139063885 0.00036
NM_016156.6(MTMR2):c.-81G>A rs772112416 0.00036
NM_018319.4(TDP1):c.1366+10G>A rs200295380 0.00036
NM_021625.5(TRPV4):c.1546A>G (p.Ile516Val) rs115976458 0.00036
NM_133259.4(LRPPRC):c.*1911G>A rs533572540 0.00036
NM_000304.4(PMP22):c.*1049C>G rs750733887 0.00035
NM_000370.3(TTPA):c.*806C>T rs752352118 0.00035
NM_000521.4(HEXB):c.1248G>A (p.Ala416=) rs137915238 0.00035
NM_001005373.4(LRSAM1):c.2111G>A (p.Arg704His) rs140808447 0.00035
NM_001113491.2(SEPTIN9):c.*578G>T rs546283819 0.00035
NM_001130823.3(DNMT1):c.1224C>T (p.Asn408=) rs199584370 0.00035
NM_001130823.3(DNMT1):c.3408C>G (p.Pro1136=) rs144675407 0.00035
NM_001351132.2(PEX5):c.1707C>T (p.Leu569=) rs151312595 0.00035
NM_001365536.1(SCN9A):c.3684T>C (p.Tyr1228=) rs144941725 0.00035
NM_001376.5(DYNC1H1):c.4395+2C>T rs192594531 0.00035
NM_002618.4(PEX13):c.*1377G>A rs536283006 0.00035
NM_002778.4(PSAP):c.-29C>T rs201780377 0.00035
NM_003560.4(PLA2G6):c.91G>A (p.Asp31Asn) rs150024227 0.00035
NM_004551.3(NDUFS3):c.381+6T>C rs377579231 0.00035
NM_004863.4(SPTLC2):c.*695T>A rs192822567 0.00035
NM_006415.4(SPTLC1):c.795C>T (p.Tyr265=) rs150756641 0.00035
NM_015046.7(SETX):c.4612C>T (p.Arg1538Trp) rs147018359 0.00035
NM_018319.4(TDP1):c.*950C>T rs577840358 0.00035
NM_033305.3(VPS13A):c.5471A>G (p.Tyr1824Cys) rs144290291 0.00035
NM_078470.6(COX15):c.*2060C>T rs886046606 0.00035
NM_181882.3(PRX):c.3708G>A (p.Ala1236=) rs202119177 0.00035
NM_000081.4(LYST):c.2946T>C (p.Tyr982=) rs145892183 0.00034
NM_000182.5(HADHA):c.2113G>A (p.Val705Ile) rs146406360 0.00034
NM_000286.3(PEX12):c.-495C>T rs577172680 0.00034
NM_000370.3(TTPA):c.*161A>G rs183885151 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_000487.6(ARSA):c.*2037C>T rs568146327 0.00034
NM_000530.8(MPZ):c.*752G>A rs533147214 0.00034
NM_001113491.2(SEPTIN9):c.268C>T (p.Leu90=) rs78745349 0.00034
NM_001370298.3(FGD4):c.*1704C>G rs886049263 0.00034
NM_001376.5(DYNC1H1):c.11596-7G>A rs375593873 0.00034
NM_002618.4(PEX13):c.*446A>G rs554737021 0.00034
NM_004082.5(DCTN1):c.*122A>C rs777649011 0.00034
NM_004551.3(NDUFS3):c.628-7C>T rs11039306 0.00034
NM_004813.4(PEX16):c.*107C>T rs201513691 0.00034
NM_004863.4(SPTLC2):c.*4115G>T rs542638116 0.00034
NM_005006.7(NDUFS1):c.1516G>A (p.Val506Ile) rs137889316 0.00034
NM_006158.5(NEFL):c.*878A>G rs189452316 0.00034
NM_015046.7(SETX):c.4433C>A (p.Ala1478Glu) rs143661911 0.00034
NM_020247.5(COQ8A):c.1089C>T (p.Gly363=) rs139570869 0.00034
NM_020631.6(PLEKHG5):c.1705G>A (p.Asp569Asn) rs200641225 0.00034
NM_078470.6(COX15):c.*2282G>A rs762075313 0.00034
NM_133259.4(LRPPRC):c.1920+11A>G rs373513189 0.00034
NM_000158.4(GBE1):c.859G>C (p.Val287Leu) rs116899644 0.00033
NM_000284.4(PDHA1):c.*729G>A rs376808450 0.00033
NM_000530.8(MPZ):c.*341A>G rs557613782 0.00033
NM_001113491.2(SEPTIN9):c.*207G>A rs560243481 0.00033
NM_001370298.3(FGD4):c.740T>C (p.Leu247Pro) rs142609007 0.00033
NM_001376.5(DYNC1H1):c.9762+9T>G rs376545350 0.00033
NM_002180.3(IGHMBP2):c.*692A>G rs188469352 0.00033
NM_004551.3(NDUFS3):c.*32G>A rs189495301 0.00033
NM_004863.4(SPTLC2):c.*5799C>T rs142817152 0.00033
NM_006329.4(FBLN5):c.*121C>T rs548351890 0.00033
NM_018319.4(TDP1):c.1343G>A (p.Arg448Gln) rs144746398 0.00033
NM_021830.5(TWNK):c.241C>G (p.Leu81Val) rs145068570 0.00033
NM_024577.4(SH3TC2):c.*837G>A rs565462353 0.00033
NM_030962.4(SBF2):c.705T>C (p.Ser235=) rs143209062 0.00033
NM_181882.3(PRX):c.960G>A (p.Ser320=) rs775367319 0.00033
NM_198252.3(GSN):c.1513G>A (p.Gly505Arg) rs58750568 0.00033
NM_000081.4(LYST):c.8960C>G (p.Pro2987Arg) rs147899661 0.00032
NM_000217.3(KCNA1):c.*4903C>G rs760686126 0.00032
NM_000288.4(PEX7):c.94C>T (p.Leu32=) rs886061118 0.00032
NM_001113491.2(SEPTIN9):c.*1896A>G rs189204974 0.00032
NM_001127649.3(PEX26):c.*2386C>G rs148534099 0.00032
NM_001136472.2(LITAF):c.*37G>C rs201429019 0.00032
NM_001195248.2(APTX):c.*834C>G rs770908697 0.00032
NM_001303.4(COX10):c.-29C>A rs373184679 0.00032
NM_001351132.2(PEX5):c.*446_*452dup rs771366153 0.00032
NM_001370298.3(FGD4):c.*2374G>T rs753715337 0.00032
NM_001376.5(DYNC1H1):c.12514-9C>A rs74874468 0.00032
NM_001376.5(DYNC1H1):c.7203A>C (p.Lys2401Asn) rs150888094 0.00032
NM_002857.4(PEX19):c.*2717A>G rs574056299 0.00032
NM_004589.4(SCO1):c.5C>A (p.Ala2Glu) rs147487151 0.00032
NM_006096.3(NDRG1):c.*1706G>A rs781277187 0.00032
NM_014874.4(MFN2):c.2146G>A (p.Ala716Thr) rs144860227 0.00032
NM_024577.4(SH3TC2):c.*7391A>C rs886060159 0.00032
NM_000081.4(LYST):c.2313G>A (p.Gln771=) rs147220685 0.00031
NM_000182.5(HADHA):c.1689+11C>T rs367640259 0.00031
NM_000182.5(HADHA):c.79C>T (p.Arg27Cys) rs143832445 0.00031
NM_000318.3(PEX2):c.*1858G>A rs777834563 0.00031
NM_000384.3(APOB):c.2853G>A (p.Glu951=) rs151193347 0.00031
NM_000487.6(ARSA):c.*15G>A rs377187248 0.00031
NM_000521.4(HEXB):c.918G>C (p.Leu306=) rs140607282 0.00031
NM_000530.8(MPZ):c.*743C>T rs140992541 0.00031
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys) rs121908096 0.00031
NM_001127649.3(PEX26):c.*578A>G rs150745941 0.00031
NM_001136472.2(LITAF):c.44C>T (p.Ser15Leu) rs138041990 0.00031
NM_001195248.2(APTX):c.*858C>G rs772290850 0.00031
NM_001365536.1(SCN9A):c.*2222T>C rs199958892 0.00031
NM_002529.4(NTRK1):c.482G>A (p.Arg161His) rs150271893 0.00031
NM_004168.4(SDHA):c.*179G>A rs980815395 0.00031
NM_004544.3(NDUFA10):c.-87A>C rs886055827 0.00031
NM_004863.4(SPTLC2):c.*1612G>A rs769535377 0.00031
NM_005006.7(NDUFS1):c.1600G>A (p.Val534Met) rs201806038 0.00031
NM_014874.4(MFN2):c.*413C>T rs558887681 0.00031
NM_016156.6(MTMR2):c.*1089C>G rs147982779 0.00031
NM_022041.4(GAN):c.*1368T>C rs568868279 0.00031
NM_022124.6(CDH23):c.*141G>A rs535544696 0.00031
NM_024577.4(SH3TC2):c.*21703G>A rs761390238 0.00031
NM_078470.6(COX15):c.*1309T>C rs556850599 0.00031
NM_078470.6(COX15):c.929C>G (p.Pro310Arg) rs138293000 0.00031
NM_133259.4(LRPPRC):c.*1584G>A rs372330583 0.00031
NM_000287.4(PEX6):c.1670A>G (p.Asn557Ser) rs138621982 0.00030
NM_001005373.4(LRSAM1):c.*350C>A rs764119919 0.00030
NM_001113491.2(SEPTIN9):c.907G>A (p.Val303Met) rs367749123 0.00030
NM_001370298.3(FGD4):c.785C>T (p.Thr262Met) rs200732890 0.00030
NM_001376.5(DYNC1H1):c.5971G>A (p.Asp1991Asn) rs151001016 0.00030
NM_001376.5(DYNC1H1):c.7192C>T (p.Arg2398Cys) rs141525226 0.00030
NM_001605.3(AARS1):c.430G>A (p.Ala144Thr) rs147187788 0.00030
NM_001953.5(TYMP):c.1443G>A (p.Gln481=) rs377497287 0.00030
NM_002529.4(NTRK1):c.505G>A (p.Gly169Arg) rs367836863 0.00030
NM_002618.4(PEX13):c.*803A>G rs561112537 0.00030
NM_002618.4(PEX13):c.*90A>G rs535967834 0.00030
NM_004376.5(COX15):c.*4392G>A rs764641759 0.00030
NM_015046.7(SETX):c.4096T>C (p.Ser1366Pro) rs140147684 0.00030
NM_024577.4(SH3TC2):c.*21728T>C rs142485824 0.00030
NM_030962.4(SBF2):c.1509A>G (p.Glu503=) rs143773975 0.00030
NM_030962.4(SBF2):c.3819C>T (p.Ser1273=) rs145351367 0.00030
NM_033305.3(VPS13A):c.7456A>G (p.Ile2486Val) rs142981309 0.00030
NM_133259.4(LRPPRC):c.*2376C>G rs886056040 0.00030
NM_000081.4(LYST):c.2963G>A (p.Arg988Gln) rs150953050 0.00029
NM_000081.4(LYST):c.3394-14T>C rs372892911 0.00029
NM_000108.5(DLD):c.763A>C (p.Met255Leu) rs533405046 0.00029
NM_000158.4(GBE1):c.*466G>A rs571158601 0.00029
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys) rs80338671 0.00029
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_000487.6(ARSA):c.-142G>A rs886057660 0.00029
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser) rs74315457 0.00029
NM_000520.6(HEXA):c.*355C>G rs188399769 0.00029
NM_001005361.3(DNM2):c.*10G>A rs200188660 0.00029
NM_001005373.4(LRSAM1):c.1950G>A (p.Thr650=) rs199887448 0.00029
NM_001042472.3(ABHD12):c.*22A>G rs377339443 0.00029
NM_001042472.3(ABHD12):c.1176G>A (p.Ser392=) rs184232860 0.00029
NM_001113491.2(SEPTIN9):c.1699G>A (p.Glu567Lys) rs201409034 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_001370298.3(FGD4):c.*368T>C rs925762740 0.00029
NM_001374736.1(DST):c.4046C>T (p.Ala1349Val) rs150656535 0.00029
NM_001386140.1(MTTP):c.-82C>T rs767201629 0.00029
NM_001386140.1(MTTP):c.-84T>C rs761717058 0.00029
NM_002047.4(GARS1):c.253A>G (p.Lys85Glu) rs200294578 0.00029
NM_002180.3(IGHMBP2):c.1125C>T (p.Asp375=) rs140296831 0.00029
NM_002506.3(NGF):c.247C>T (p.Arg83Cys) rs138175552 0.00029
NM_002529.4(NTRK1):c.1068C>T (p.Asn356=) rs145823996 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_003560.4(PLA2G6):c.956C>T (p.Thr319Met) rs149653983 0.00029
NM_004082.5(DCTN1):c.2805C>G (p.Ile935Met) rs145130328 0.00029
NM_004082.5(DCTN1):c.597G>A (p.Pro199=) rs143607419 0.00029
NM_004863.4(SPTLC2):c.561A>G (p.Ser187=) rs143934634 0.00029
NM_005908.4(MANBA):c.2296C>T (p.Arg766Trp) rs147428514 0.00029
NM_006096.4(NDRG1):c.-19+14C>G rs886062716 0.00029
NM_014845.6(FIG4):c.834A>T (p.Lys278Asn) rs138048706 0.00029
NM_016156.6(MTMR2):c.*1888del rs775823662 0.00029
NM_018972.4(GDAP1):c.*1429A>G rs78545774 0.00029
NM_020631.4(PLEKHG5):c.*1289C>G rs886046487 0.00029
NM_021625.5(TRPV4):c.2043C>T (p.Gly681=) rs375633647 0.00029
NM_022124.6(CDH23):c.*104G>C rs377312107 0.00029
NM_024577.4(SH3TC2):c.*1254T>C rs752672326 0.00029
NM_030962.4(SBF2):c.*480G>A rs148002177 0.00029
NM_030962.4(SBF2):c.1519G>A (p.Glu507Lys) rs139217120 0.00029
NM_030962.4(SBF2):c.4522C>T (p.Arg1508Cys) rs141108330 0.00029
NM_033305.3(VPS13A):c.2124A>G (p.Ser708=) rs199682779 0.00029
NM_170707.4(LMNA):c.1584G>A (p.Thr528=) rs80356812 0.00029
NM_181882.3(PRX):c.361C>T (p.Arg121Trp) rs750435566 0.00029
NM_198252.3(GSN):c.2069G>A (p.Arg690Gln) rs141510612 0.00029
NM_000182.5(HADHA):c.1690-13G>A rs368557552 0.00028
NM_000466.3(PEX1):c.3031G>A (p.Val1011Met) rs141650598 0.00028
NM_000784.4(CYP27A1):c.*47G>A rs140059093 0.00028
NM_001113491.2(SEPTIN9):c.1125-10C>T rs199872443 0.00028
NM_001113491.2(SEPTIN9):c.76+12350G>C rs534426016 0.00028
NM_001127649.3(PEX26):c.*114C>T rs45500699 0.00028
NM_001374736.1(DST):c.3964-11C>T rs371499560 0.00028
NM_001386140.1(MTTP):c.111G>A (p.Thr37=) rs147921439 0.00028
NM_001386140.1(MTTP):c.2657C>T (p.Pro886Leu) rs144600401 0.00028
NM_002778.4(PSAP):c.-28A>C rs375720661 0.00028
NM_003560.4(PLA2G6):c.325C>G (p.His109Asp) rs142530390 0.00028
NM_003630.3(PEX3):c.*677C>T rs886061136 0.00028
NM_004082.5(DCTN1):c.558G>A (p.Pro186=) rs201078804 0.00028
NM_004813.2(PEX16):c.-164G>T rs773746164 0.00028
NM_004863.4(SPTLC2):c.*4825C>T rs193215155 0.00028
NM_018972.4(GDAP1):c.*873T>C rs573385308 0.00028
NM_020631.6(PLEKHG5):c.2751G>A (p.Gln917=) rs370666430 0.00028
NM_021830.5(TWNK):c.1527C>T (p.Asp509=) rs62626272 0.00028
NM_024577.4(SH3TC2):c.*12509T>C rs550901114 0.00028
NM_024577.4(SH3TC2):c.751C>T (p.Pro251Ser) rs144963732 0.00028
NM_030962.4(SBF2):c.*963C>T rs144512459 0.00028
NM_033305.3(VPS13A):c.1528C>T (p.Leu510=) rs147954757 0.00028
NM_000081.4(LYST):c.368A>G (p.His123Arg) rs3768067 0.00027
NM_000318.3(PEX2):c.447T>G (p.Gly149=) rs375401977 0.00027
NM_001005361.3(DNM2):c.2511G>A (p.Arg837=) rs200100669 0.00027
NM_001113491.2(SEPTIN9):c.1446G>A (p.Ser482=) rs80015943 0.00027
NM_001127649.3(PEX26):c.*2339G>A rs772852627 0.00027
NM_001351132.2(PEX5):c.-17+273G>T rs117442311 0.00027
NM_001370298.3(FGD4):c.*5244G>A rs186014657 0.00027
NM_002529.4(NTRK1):c.575G>C (p.Gly192Ala) rs201185829 0.00027
NM_002617.4(PEX10):c.*410G>A rs886046144 0.00027
NM_003630.3(PEX3):c.*895G>A rs3804545 0.00027
NM_004544.4(NDUFA10):c.*679A>G rs374065697 0.00027
NM_004813.4(PEX16):c.*70C>G rs530762140 0.00027
NM_015046.7(SETX):c.*1688A>G rs773351268 0.00027
NM_024577.4(SH3TC2):c.*44G>A rs200095406 0.00027
NM_024577.4(SH3TC2):c.*4603C>T rs144955630 0.00027
NM_024577.4(SH3TC2):c.*6623G>A rs78100143 0.00027
NM_024577.4(SH3TC2):c.*882G>A rs775429372 0.00027
NM_000081.4(LYST):c.6487G>A (p.Ala2163Thr) rs201513511 0.00026
NM_000081.4(LYST):c.7368T>C (p.Asn2456=) rs199631995 0.00026
NM_000166.6(GJB1):c.*277A>G rs759936874 0.00026
NM_000274.4(OAT):c.*311T>C rs753216934 0.00026
NM_000284.4(PDHA1):c.396A>C (p.Arg132=) rs757654963 0.00026
NM_000487.6(ARSA):c.*2301T>C rs534387866 0.00026
NM_000530.8(MPZ):c.*435T>G rs868502674 0.00026
NM_001005361.3(DNM2):c.*321A>G rs149937994 0.00026
NM_001005361.3(DNM2):c.958G>A (p.Asp320Asn) rs150613209 0.00026
NM_001034850.3(RETREG1):c.*1169G>A rs914670182 0.00026
NM_001113491.2(SEPTIN9):c.*372C>T rs773235757 0.00026
NM_001113491.2(SEPTIN9):c.76+12362T>G rs370236963 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_001365536.1(SCN9A):c.*18A>G rs150401869 0.00026
NM_001376.5(DYNC1H1):c.-13C>G rs537857759 0.00026
NM_002180.3(IGHMBP2):c.2369G>A (p.Arg790Gln) rs147038490 0.00026
NM_006096.4(NDRG1):c.*1473G>A rs187466317 0.00026
NM_006329.4(FBLN5):c.989+9C>T rs557362799 0.00026
NM_014317.5(PDSS1):c.467+9T>G rs202187965 0.00026
NM_014365.2(HSPB8):c.-480C>G rs886049024 0.00026
NM_020247.5(COQ8A):c.1188C>T (p.Asp396=) rs139133094 0.00026
NM_020631.6(PLEKHG5):c.620C>T (p.Ser207Leu) rs572530276 0.00026
NM_021625.5(TRPV4):c.501C>T (p.Asp167=) rs77680510 0.00026
NM_021830.5(TWNK):c.-592C>T rs774214514 0.00026
NM_022041.4(GAN):c.*1138A>G rs554886016 0.00026
NM_022041.4(GAN):c.*1949G>C rs191873952 0.00026
NM_022041.4(GAN):c.974-11G>C rs753746307 0.00026
NM_022124.6(CDH23):c.9629T>C (p.Ile3210Thr) rs144688588 0.00026
NM_024577.4(SH3TC2):c.*20469C>T rs886060097 0.00026
NM_024577.4(SH3TC2):c.*2716T>C rs577940138 0.00026
NM_024577.4(SH3TC2):c.2304C>T (p.Leu768=) rs140829706 0.00026
NM_033305.3(VPS13A):c.4390C>A (p.His1464Asn) rs148891181 0.00026
NM_133259.4(LRPPRC):c.*1121G>T rs371325663 0.00026
NM_133259.4(LRPPRC):c.*2289A>T rs777772528 0.00026
NM_198252.3(GSN):c.1563C>T (p.Ser521=) rs140414249 0.00026
NM_000081.4(LYST):c.4578T>A (p.Asn1526Lys) rs117609949 0.00025
NM_000108.5(DLD):c.*1736T>C rs190655078 0.00025
NM_000217.3(KCNA1):c.*5209C>T rs189939908 0.00025
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_001136472.2(LITAF):c.*1627G>A rs62022848 0.00025
NM_001365536.1(SCN9A):c.3343A>G (p.Ser1115Gly) rs201984007 0.00025
NM_001370298.3(FGD4):c.*3044T>C rs747748956 0.00025
NM_001370298.3(FGD4):c.*5484T>C rs577630567 0.00025
NM_004168.4(SDHA):c.895+13G>A rs201461936 0.00025
NM_004637.6(RAB7A):c.*625T>C rs545004919 0.00025
NM_004863.4(SPTLC2):c.*2807C>G rs560223593 0.00025
NM_006096.4(NDRG1):c.*525G>A rs185153183 0.00025
NM_006329.4(FBLN5):c.862+12C>T rs202088447 0.00025
NM_014874.4(MFN2):c.*1054C>T rs951038336 0.00025
NM_014874.4(MFN2):c.*1539G>A rs557643473 0.00025
NM_015046.7(SETX):c.*891T>C rs573743210 0.00025
NM_018972.4(GDAP1):c.*1701T>C rs781146378 0.00025
NM_020247.5(COQ8A):c.*612C>T rs747804729 0.00025
NM_020247.5(COQ8A):c.1286A>G (p.Tyr429Cys) rs144147839 0.00025
NM_021625.5(TRPV4):c.402C>A (p.Ser134Arg) rs201241092 0.00025
NM_024577.4(SH3TC2):c.*10546C>T rs186003687 0.00025
NM_024577.4(SH3TC2):c.*626G>A rs781581124 0.00025
NM_170707.4(LMNA):c.1634G>A (p.Arg545His) rs142191737 0.00025
NM_181882.3(PRX):c.1568T>C (p.Leu523Pro) rs550446238 0.00025
NM_198252.3(GSN):c.1098G>A (p.Val366=) rs201325199 0.00025
NM_198252.3(GSN):c.1487A>G (p.Tyr496Cys) rs139832048 0.00025
NM_000108.5(DLD):c.*845G>A rs750426584 0.00024
NM_000217.3(KCNA1):c.*947C>T rs557429239 0.00024
NM_000284.4(PDHA1):c.-79C>T rs942040058 0.00024
NM_000287.4(PEX6):c.-79C>T rs186587060 0.00024
NM_000370.3(TTPA):c.*326T>A rs529634119 0.00024
NM_000399.5(EGR2):c.174C>T (p.Gly58=) rs143793213 0.00024
NM_000399.5(EGR2):c.192G>C (p.Met64Ile) rs146631014 0.00024
NM_000487.6(ARSA):c.*1207T>G rs985590155 0.00024
NM_001005361.3(DNM2):c.2179C>T (p.His727Tyr) rs142963320 0.00024
NM_001034850.3(RETREG1):c.17C>T (p.Pro6Leu) rs894277583 0.00024
NM_001130823.3(DNMT1):c.393C>T (p.Pro131=) rs143904813 0.00024
NM_001130823.3(DNMT1):c.406C>T (p.Arg136Cys) rs138841970 0.00024
NM_001136472.2(LITAF):c.*500A>G rs767760361 0.00024
NM_001136472.2(LITAF):c.*904G>A rs192766322 0.00024
NM_001370298.3(FGD4):c.890G>A (p.Gly297Asp) rs201826412 0.00024
NM_001540.5(HSPB1):c.24C>T (p.Phe8=) rs201769668 0.00024
NM_002047.4(GARS1):c.1100A>G (p.Asn367Ser) rs192443850 0.00024
NM_003560.4(PLA2G6):c.773C>T (p.Ser258Leu) rs147924368 0.00024
NM_003680.4(YARS1):c.-110G>A rs748353138 0.00024
NM_003680.4(YARS1):c.60G>A (p.Glu20=) rs143712443 0.00024
NM_004082.5(DCTN1):c.3490A>G (p.Thr1164Ala) rs72466493 0.00024
NM_004544.4(NDUFA10):c.*1206G>A rs192203978 0.00024
NM_004544.4(NDUFA10):c.*1245G>A rs187916829 0.00024
NM_004544.4(NDUFA10):c.*2685C>A rs114807372 0.00024
NM_004813.4(PEX16):c.1002T>C (p.Ser334=) rs144897515 0.00024
NM_004863.3(SPTLC2):c.-160A>G rs886050852 0.00024
NM_004863.4(SPTLC2):c.851-5T>C rs199867946 0.00024
NM_006096.4(NDRG1):c.686A>G (p.Asn229Ser) rs137993172 0.00024
NM_022041.4(GAN):c.*1883C>G rs76019247 0.00024
NM_024577.4(SH3TC2):c.*14827T>A rs569378409 0.00024
NM_024577.4(SH3TC2):c.*19438C>A rs533701005 0.00024
NM_078470.6(COX15):c.*1594C>G rs886046607 0.00024
NM_133259.4(LRPPRC):c.4132A>G (p.Ser1378Gly) rs149693840 0.00024
NM_000274.4(OAT):c.-12T>G rs775990544 0.00023
NM_000284.4(PDHA1):c.894A>G (p.Gly298=) rs1329322647 0.00023
NM_000370.3(TTPA):c.*1365A>C rs181348477 0.00023
NM_000371.3(TTR):c.*191C>T rs556327750 0.00023
NM_000384.3(APOB):c.10882A>T (p.Asn3628Tyr) rs141982176 0.00023
NM_000384.3(APOB):c.5763A>G (p.Gly1921=) rs141022509 0.00023
NM_000384.3(APOB):c.7181T>C (p.Val2394Ala) rs148429884 0.00023
NM_000487.6(ARSA):c.*342A>G rs182635438 0.00023
NM_001042472.3(ABHD12):c.960C>T (p.His320=) rs146195280 0.00023
NM_001130823.3(DNMT1):c.2693C>T (p.Thr898Ile) rs201213597 0.00023
NM_001130823.3(DNMT1):c.575C>T (p.Ala192Val) rs62621089 0.00023
NM_001365536.1(SCN9A):c.1980G>A (p.Thr660=) rs200014315 0.00023
NM_001376.5(DYNC1H1):c.13149C>T (p.Thr4383=) rs375767483 0.00023
NM_001376.5(DYNC1H1):c.13707G>A (p.Thr4569=) rs138571942 0.00023
NM_002529.4(NTRK1):c.641G>A (p.Arg214Gln) rs200132482 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_004376.5(COX15):c.*3800C>A rs576990987 0.00023
NM_004376.6(COX15):c.-114A>G rs539821050 0.00023
NM_004544.4(NDUFA10):c.*183C>T rs112660586 0.00023
NM_005006.7(NDUFS1):c.-64T>C rs145023130 0.00023
NM_006308.3(HSPB3):c.*109A>C rs564437576 0.00023
NM_006308.3(HSPB3):c.271G>A (p.Glu91Lys) rs147724326 0.00023
NM_018972.4(GDAP1):c.*1415C>T rs558846970 0.00023
NM_024577.4(SH3TC2):c.*10064C>T rs904197605 0.00023
NM_024577.4(SH3TC2):c.*5741G>A rs538159827 0.00023
NM_024577.4(SH3TC2):c.1767C>T (p.Ser589=) rs139898175 0.00023
NM_033305.3(VPS13A):c.5594C>T (p.Thr1865Ile) rs143449578 0.00023
NM_170707.4(LMNA):c.1698+83G>A rs555844506 0.00023
NM_000081.4(LYST):c.2754G>A (p.Glu918=) rs373577384 0.00022
NM_000081.4(LYST):c.8214G>C (p.Glu2738Asp) rs140944484 0.00022
NM_000108.5(DLD):c.321A>G (p.Ala107=) rs138398782 0.00022
NM_000143.4(FH):c.7C>G (p.Arg3Gly) rs202166344 0.00022
NM_000166.6(GJB1):c.507C>T (p.Asp169=) rs373334326 0.00022
NM_000217.3(KCNA1):c.*2313C>T rs183989674 0.00022
NM_000217.3(KCNA1):c.*4663G>A rs186319441 0.00022
NM_000286.3(PEX12):c.*923G>A rs576761038 0.00022
NM_000466.3(PEX1):c.1725G>A (p.Leu575=) rs150667796 0.00022
NM_000487.6(ARSA):c.*2368A>T rs570115432 0.00022
NM_000487.6(ARSA):c.982G>A (p.Val328Met) rs143994992 0.00022
NM_000784.4(CYP27A1):c.*195G>C rs886055632 0.00022
NM_001113491.2(SEPTIN9):c.*1253T>G rs748692946 0.00022
NM_001370298.3(FGD4):c.*5223G>A rs886049280 0.00022
NM_001370658.1(BTD):c.-148C>T rs774964227 0.00022
NM_001605.3(AARS1):c.2217C>T (p.Ile739=) rs770980206 0.00022
NM_002047.4(GARS1):c.302G>A (p.Arg101His) rs200887429 0.00022
NM_002496.4(NDUFS8):c.502-13C>T rs199793417 0.00022
NM_002617.4(PEX10):c.611G>A (p.Arg204His) rs199934621 0.00022
NM_004168.4(SDHA):c.-2A>T rs763680697 0.00022
NM_004589.4(SCO1):c.*326C>T rs959024756 0.00022
NM_004637.5(RAB7A):c.-215C>T rs560785742 0.00022
NM_004863.4(SPTLC2):c.*4037G>A rs144430502 0.00022
NM_006158.5(NEFL):c.*1744T>C rs886062825 0.00022
NM_007103.4(NDUFV1):c.831C>T (p.Asn277=) rs139299777 0.00022
NM_012073.5(CCT5):c.86T>C (p.Met29Thr) rs141133834 0.00022
NM_015046.7(SETX):c.*2384T>A rs570456500 0.00022
NM_018319.4(TDP1):c.*1355G>A rs755484553 0.00022
NM_018319.4(TDP1):c.884+5G>A rs370991229 0.00022
NM_020247.5(COQ8A):c.*234G>A rs188462608 0.00022
NM_021625.5(TRPV4):c.*99C>T rs552478250 0.00022
NM_024577.4(SH3TC2):c.*19411T>C rs780022559 0.00022
NM_174936.4(PCSK9):c.*950C>T rs72646537 0.00022
NM_181882.3(PRX):c.993G>A (p.Pro331=) rs146323928 0.00022
NM_000081.4(LYST):c.3898A>G (p.Ile1300Val) rs199855658 0.00021
NM_000081.4(LYST):c.4006+8G>A rs369153654 0.00021
NM_000081.4(LYST):c.9045-13T>C rs181450025 0.00021
NM_000182.5(HADHA):c.*586G>A rs749568626 0.00021
NM_000182.5(HADHA):c.2175C>T (p.Gly725=) rs375399631 0.00021
NM_000217.3(KCNA1):c.*486G>C rs764863360 0.00021
NM_000304.4(PMP22):c.*894C>T rs916402753 0.00021
NM_000487.6(ARSA):c.*527A>G rs898694289 0.00021
NM_000520.6(HEXA):c.1073+1G>A rs76173977 0.00021
NM_001005361.3(DNM2):c.2567G>A (p.Ser856Asn) rs149825590 0.00021
NM_001113491.2(SEPTIN9):c.1398G>A (p.Leu466=) rs375450011 0.00021
NM_001127649.3(PEX26):c.*280G>A rs188897908 0.00021
NM_001244008.2(KIF1A):c.3668C>T (p.Thr1223Met) rs374873057 0.00021
NM_001303.4(COX10):c.192G>A (p.Leu64=) rs569444237 0.00021
NM_001351132.2(PEX5):c.*322C>T rs764082627 0.00021
NM_001370298.3(FGD4):c.167-61790C>T rs531501340 0.00021
NM_001376.5(DYNC1H1):c.1704T>C (p.Leu568=) rs192959810 0.00021
NM_001376.5(DYNC1H1):c.9093G>A (p.Thr3031=) rs145208135 0.00021
NM_001386140.1(MTTP):c.*989T>C rs183510498 0.00021
NM_001605.3(AARS1):c.*131G>A rs555883502 0.00021
NM_001953.5(TYMP):c.1176C>T (p.Val392=) rs770533125 0.00021
NM_002180.3(IGHMBP2):c.1845T>A (p.Arg615=) rs370850999 0.00021
NM_002529.4(NTRK1):c.630C>T (p.Asp210=) rs147882947 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_003477.3(PDHX):c.1333T>G (p.Phe445Val) rs147948716 0.00021
NM_003477.3(PDHX):c.542+10T>C rs368960575 0.00021
NM_003560.4(PLA2G6):c.2417C>G (p.Pro806Arg) rs140758033 0.00021
NM_004551.3(NDUFS3):c.123C>T (p.Ala41=) rs141187412 0.00021
NM_004565.3(PEX14):c.360A>G (p.Ala120=) rs148479162 0.00021
NM_004565.3(PEX14):c.400C>G (p.Leu134Val) rs140476337 0.00021
NM_004637.6(RAB7A):c.*402T>A rs950767971 0.00021
NM_004863.4(SPTLC2):c.*1457C>T rs542322275 0.00021
NM_004863.4(SPTLC2):c.*288C>T rs187745450 0.00021
NM_005006.7(NDUFS1):c.*966A>G rs755776989 0.00021
NM_005908.4(MANBA):c.1921C>T (p.Arg641Cys) rs140692906 0.00021
NM_006158.5(NEFL):c.*1806T>C rs192937928 0.00021
NM_006329.4(FBLN5):c.621T>C (p.Asp207=) rs200178859 0.00021
NM_012073.5(CCT5):c.*69C>T rs535827783 0.00021
NM_012073.5(CCT5):c.1425C>T (p.Thr475=) rs370529963 0.00021
NM_014365.2(HSPB8):c.-457A>G rs564088535 0.00021
NM_014365.3(HSPB8):c.*788C>T rs975396136 0.00021
NM_014874.4(MFN2):c.*1535C>T rs778755558 0.00021
NM_015046.7(SETX):c.*988G>A rs182693244 0.00021
NM_015046.7(SETX):c.1391C>T (p.Ser464Leu) rs200614765 0.00021
NM_020631.6(PLEKHG5):c.34C>A (p.Pro12Thr) rs140687324 0.00021
NM_020631.6(PLEKHG5):c.482T>C (p.Met161Thr) rs140817021 0.00021
NM_021830.5(TWNK):c.1042G>A (p.Gly348Arg) rs62626271 0.00021
NM_021830.5(TWNK):c.1609T>C (p.Tyr537His) rs144001072 0.00021
NM_024577.4(SH3TC2):c.2097G>A (p.Gln699=) rs117860293 0.00021
NM_078470.6(COX15):c.664C>T (p.Arg222Cys) rs2231682 0.00021
NM_198252.3(GSN):c.*98T>A rs903037306 0.00021
NM_000081.4(LYST):c.10477T>C (p.Phe3493Leu) rs200511787 0.00020
NM_000108.5(DLD):c.*1092C>T rs546777301 0.00020
NM_000217.3(KCNA1):c.*1308C>T rs575443810 0.00020
NM_000217.3(KCNA1):c.*592C>A rs144000949 0.00020
NM_000217.3(KCNA1):c.-420C>A rs1036896109 0.00020
NM_000286.3(PEX12):c.84T>C (p.Ser28=) rs200641558 0.00020
NM_001005361.3(DNM2):c.*79G>A rs550692861 0.00020
NM_001005373.4(LRSAM1):c.569G>A (p.Arg190Gln) rs142782210 0.00020
NM_001042472.3(ABHD12):c.1044C>T (p.Ala348=) rs371418239 0.00020
NM_001370298.3(FGD4):c.*2026A>G rs765502938 0.00020
NM_001370298.3(FGD4):c.*3543G>C rs753405606 0.00020
NM_003560.4(PLA2G6):c.439G>A (p.Ala147Thr) rs138672490 0.00020
NM_003680.4(YARS1):c.1228G>A (p.Val410Met) rs146393022 0.00020
NM_004544.4(NDUFA10):c.404T>C (p.Leu135Ser) rs140776586 0.00020
NM_004551.3(NDUFS3):c.*39C>T rs145121567 0.00020
NM_006096.4(NDRG1):c.63+6T>C rs199597649 0.00020
NM_006308.3(HSPB3):c.321C>T (p.His107=) rs367560285 0.00020
NM_007103.4(NDUFV1):c.700+12C>T rs200417926 0.00020
NM_020312.4(COQ9):c.*378G>A rs190372643 0.00020
NM_021625.5(TRPV4):c.*500C>T rs929739314 0.00020
NM_021625.5(TRPV4):c.1584+13C>T rs199712027 0.00020
NM_024577.4(SH3TC2):c.*15967C>T rs139941418 0.00020
NM_030962.4(SBF2):c.3831C>G (p.Ile1277Met) rs139522696 0.00020
NM_033305.3(VPS13A):c.1453-15C>T rs200334710 0.00020
NM_198252.3(GSN):c.-9-1967C>T rs372837702 0.00020
NM_000143.4(FH):c.1237-12A>T rs74405673 0.00019
NM_000153.4(GALC):c.1272G>A (p.Gln424=) rs376675180 0.00019
NM_000153.4(GALC):c.1573G>A (p.Glu525Lys) rs146286491 0.00019
NM_000158.4(GBE1):c.640G>A (p.Ala214Thr) rs201166587 0.00019
NM_000274.4(OAT):c.107G>C (p.Gly36Ala) rs140786333 0.00019
NM_000287.4(PEX6):c.2531T>C (p.Val844Ala) rs187435179 0.00019
NM_000288.4(PEX7):c.188+3A>G rs200234391 0.00019
NM_000370.3(TTPA):c.*364A>T rs559345463 0.00019
NM_000371.4(TTR):c.368G>A (p.Arg123His) rs148538950 0.00019
NM_000371.4(TTR):c.371G>A (p.Arg124His) rs121918095 0.00019
NM_000520.6(HEXA):c.1216C>T (p.Leu406=) rs140482769 0.00019
NM_000520.6(HEXA):c.1421+14G>C rs201497629 0.00019
NM_000521.4(HEXB):c.1614-14C>A rs201448394 0.00019
NM_000784.4(CYP27A1):c.789C>T (p.Pro263=) rs143600636 0.00019
NM_001005373.4(LRSAM1):c.1515G>A (p.Ser505=) rs140066362 0.00019
NM_001113491.2(SEPTIN9):c.912C>T (p.Val304=) rs187657144 0.00019
NM_001122955.4(BSCL2):c.131G>A (p.Gly44Asp) rs769536524 0.00019
NM_001122955.4(BSCL2):c.615C>T (p.Ser205=) rs140208002 0.00019
NM_001130823.3(DNMT1):c.387C>T (p.Pro129=) rs369470867 0.00019
NM_001136472.2(LITAF):c.*1364A>C rs775642546 0.00019
NM_001351132.2(PEX5):c.*495G>A rs776371289 0.00019
NM_001365536.1(SCN9A):c.129T>C (p.Asp43=) rs200826539 0.00019
NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys) rs200945460 0.00019
NM_001365536.1(SCN9A):c.4495C>A (p.Arg1499=) rs187558439 0.00019
NM_001376.5(DYNC1H1):c.7463G>A (p.Arg2488His) rs149581331 0.00019
NM_001386140.1(MTTP):c.799T>C (p.Leu267=) rs7672497 0.00019
NM_001605.3(AARS1):c.1493-7T>C rs376087556 0.00019
NM_001605.3(AARS1):c.561C>T (p.Cys187=) rs78523270 0.00019
NM_001723.7(DST):c.7284A>G (p.Thr2428=) rs150845451 0.00019
NM_002180.3(IGHMBP2):c.*117G>A rs745828352 0.00019
NM_002180.3(IGHMBP2):c.1844G>A (p.Arg615His) rs201640213 0.00019
NM_002180.3(IGHMBP2):c.366C>T (p.His122=) rs144401213 0.00019
NM_002506.3(NGF):c.-13+14G>A rs553442923 0.00019
NM_002617.4(PEX10):c.*420G>A rs868844283 0.00019
NM_002778.4(PSAP):c.1476T>C (p.Thr492=) rs139178900 0.00019
NM_003560.4(PLA2G6):c.386T>C (p.Leu129Pro) rs374746113 0.00019
NM_003560.4(PLA2G6):c.441G>A (p.Ala147=) rs371920697 0.00019
NM_004544.4(NDUFA10):c.749+11C>T rs200760509 0.00019
NM_005006.7(NDUFS1):c.*130A>C rs200736574 0.00019
NM_006096.4(NDRG1):c.*1340G>A rs12668 0.00019
NM_006096.4(NDRG1):c.1027C>T (p.Arg343Cys) rs146613168 0.00019
NM_006308.2(HSPB3):c.-136G>A rs563501231 0.00019
NM_006329.4(FBLN5):c.1241G>A (p.Arg414Gln) rs142907552 0.00019
NM_006329.4(FBLN5):c.268G>A (p.Gly90Ser) rs144288844 0.00019
NM_007103.4(NDUFV1):c.205C>T (p.Leu69=) rs199543483 0.00019
NM_014874.4(MFN2):c.*946C>A rs765105334 0.00019
NM_015046.7(SETX):c.*2065dup rs886063546 0.00019
NM_015046.7(SETX):c.7787C>T (p.Ala2596Val) rs200507089 0.00019
NM_018972.4(GDAP1):c.*18C>T rs147945220 0.00019
NM_018979.4(WNK1):c.*1904dup rs1555165765 0.00019
NM_020631.4(PLEKHG5):c.*1186A>G rs540290288 0.00019
NM_020631.6(PLEKHG5):c.2575C>T (p.Arg859Cys) rs150666859 0.00019
NM_021625.5(TRPV4):c.2289C>T (p.Thr763=) rs202036871 0.00019
NM_022041.4(GAN):c.283-14T>C rs369700456 0.00019
NM_078470.6(COX15):c.*2745T>G rs952880831 0.00019
NM_133259.4(LRPPRC):c.1929C>T (p.His643=) rs200017171 0.00019
NM_174936.4(PCSK9):c.996+8del rs768213924 0.00019
NM_181882.3(PRX):c.3209G>A (p.Arg1070Gln) rs146222815 0.00019
NM_181882.3(PRX):c.500G>C (p.Arg167Pro) rs757322355 0.00019
NM_198252.3(GSN):c.1421G>A (p.Arg474His) rs142828669 0.00019
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser) rs138577661 0.00018
NM_000158.4(GBE1):c.313+15G>A rs184391304 0.00018
NM_000284.4(PDHA1):c.*1306G>A rs745566169 0.00018
NM_000284.4(PDHA1):c.784G>A (p.Val262Ile) rs202166915 0.00018
NM_000286.3(PEX12):c.-434A>C rs771210303 0.00018
NM_000399.5(EGR2):c.457A>C (p.Thr153Pro) rs202183386 0.00018
NM_000466.3(PEX1):c.3281A>G (p.Asp1094Gly) rs539784253 0.00018
NM_001005361.3(DNM2):c.882G>A (p.Pro294=) rs144790170 0.00018
NM_001005373.4(LRSAM1):c.-199A>G rs760403428 0.00018
NM_001113491.2(SEPTIN9):c.*45C>T rs756589796 0.00018
NM_001113491.2(SEPTIN9):c.1042G>A (p.Asp348Asn) rs201560726 0.00018
NM_001113491.2(SEPTIN9):c.1338G>A (p.Ala446=) rs768871202 0.00018
NM_001136472.2(LITAF):c.241G>A (p.Val81Met) rs201653834 0.00018
NM_002506.3(NGF):c.165G>A (p.Pro55=) rs149876217 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_003560.4(PLA2G6):c.396C>T (p.Arg132=) rs146252218 0.00018
NM_004863.4(SPTLC2):c.*5357A>G rs139325375 0.00018
NM_005006.7(NDUFS1):c.1393-7T>A rs200409285 0.00018
NM_005006.7(NDUFS1):c.768G>A (p.Ala256=) rs148726142 0.00018
NM_012073.5(CCT5):c.*1289T>C rs76573887 0.00018
NM_018319.4(TDP1):c.*1203G>T rs531417402 0.00018
NM_018319.4(TDP1):c.*228T>G rs954549405 0.00018
NM_181882.3(PRX):c.-160C>T rs763423646 0.00018
NM_181882.3(PRX):c.1624C>T (p.Arg542Trp) rs201337455 0.00018
NM_000081.4(LYST):c.2700A>G (p.Leu900=) rs111463684 0.00017
NM_000153.4(GALC):c.708C>T (p.Ser236=) rs773666802 0.00017
NM_000370.3(TTPA):c.*554C>T rs576595274 0.00017
NM_000371.4(TTR):c.14G>A (p.Arg5His) rs138657343 0.00017
NM_000384.3(APOB):c.13183G>A (p.Gly4395Ser) rs151333262 0.00017
NM_000925.4(PDHB):c.*201T>C rs375277648 0.00017
NM_001005373.4(LRSAM1):c.*590T>C rs139260397 0.00017
NM_001005373.4(LRSAM1):c.94G>A (p.Asp32Asn) rs150784835 0.00017
NM_001130823.3(DNMT1):c.4146G>A (p.Thr1382=) rs184125970 0.00017
NM_001130823.3(DNMT1):c.633A>G (p.Glu211=) rs141264613 0.00017
NM_001303.4(COX10):c.624+4A>G rs199668725 0.00017
NM_001365536.1(SCN9A):c.3472+14T>C rs201979079 0.00017
NM_002529.4(NTRK1):c.631G>A (p.Val211Met) rs201192875 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_003477.3(PDHX):c.1129A>G (p.Ile377Val) rs75430333 0.00017
NM_003560.4(PLA2G6):c.1427C>T (p.Thr476Ile) rs146684391 0.00017
NM_004863.4(SPTLC2):c.*536T>G rs45612439 0.00017
NM_005908.4(MANBA):c.1682C>T (p.Pro561Leu) rs147023714 0.00017
NM_005908.4(MANBA):c.2416-3C>T rs375466384 0.00017
NM_014317.5(PDSS1):c.754G>C (p.Glu252Gln) rs376818531 0.00017
NM_014874.4(MFN2):c.2157G>A (p.Lys719=) rs148441213 0.00017
NM_015046.7(SETX):c.-123C>A rs184570956 0.00017
NM_018319.4(TDP1):c.137A>G (p.Tyr46Cys) rs141387488 0.00017
NM_018319.4(TDP1):c.236G>C (p.Ser79Thr) rs148927677 0.00017
NM_020631.6(PLEKHG5):c.2634C>T (p.Ser878=) rs367560509 0.00017
NM_024577.4(SH3TC2):c.*12189C>T rs192729911 0.00017
NM_024577.4(SH3TC2):c.*8649A>G rs914913642 0.00017
NM_030962.4(SBF2):c.-101A>C rs886047577 0.00017
NM_030962.4(SBF2):c.4128G>A (p.Ala1376=) rs191964053 0.00017
NM_133259.4(LRPPRC):c.*409C>G rs187382374 0.00017
NM_181882.3(PRX):c.3549C>T (p.Tyr1183=) rs367876251 0.00017
NM_000081.4(LYST):c.6291C>T (p.Ala2097=) rs199857997 0.00016
NM_000108.5(DLD):c.860G>A (p.Gly287Glu) rs202125745 0.00016
NM_000143.4(FH):c.*92G>T rs202167168 0.00016
NM_000182.5(HADHA):c.325G>A (p.Ala109Thr) rs368388214 0.00016
NM_000217.3(KCNA1):c.*4303A>T rs886049535 0.00016
NM_000284.4(PDHA1):c.*1458C>T rs923765752 0.00016
NM_000287.4(PEX6):c.2183C>T (p.Pro728Leu) rs142899308 0.00016
NM_000304.4(PMP22):c.*3C>T rs373690370 0.00016
NM_000318.3(PEX2):c.*1400A>G rs1002618013 0.00016
NM_000318.3(PEX2):c.*2518C>T rs886063124 0.00016
NM_000370.3(TTPA):c.*735T>C rs886063064 0.00016
NM_000371.3(TTR):c.*304C>T rs541989755 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_000521.4(HEXB):c.1612G>A (p.Glu538Lys) rs143635580 0.00016
NM_000521.4(HEXB):c.1667T>C (p.Met556Thr) rs140627230 0.00016
NM_000784.4(CYP27A1):c.1017+5G>A rs370304209 0.00016
NM_000784.4(CYP27A1):c.1184+9G>T rs200457116 0.00016
NM_000784.4(CYP27A1):c.504A>T (p.Pro168=) rs142623022 0.00016
NM_001005361.3(DNM2):c.*453C>T rs200104482 0.00016
NM_001034850.3(RETREG1):c.86C>T (p.Pro29Leu) rs528532732 0.00016
NM_001113491.2(SEPTIN9):c.1161C>T (p.Tyr387=) rs201471541 0.00016
NM_001113491.2(SEPTIN9):c.99C>T (p.Val33=) rs546188962 0.00016
NM_001122955.4(BSCL2):c.861C>T (p.Leu287=) rs370926100 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_001130823.3(DNMT1):c.1896G>A (p.Thr632=) rs202058239 0.00016
NM_001136472.2(LITAF):c.-6+539G>A rs545189325 0.00016
NM_001303.4(COX10):c.*1459del rs574015313 0.00016
NM_001303.4(COX10):c.*823C>T rs886052609 0.00016
NM_001303.4(COX10):c.311C>T (p.Pro104Leu) rs202207627 0.00016
NM_001365536.1(SCN9A):c.1110G>A (p.Thr370=) rs202002028 0.00016
NM_001370298.3(FGD4):c.167-61974A>C rs192626243 0.00016
NM_001376.5(DYNC1H1):c.4515G>A (p.Ser1505=) rs186932188 0.00016
NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=) rs117846737 0.00016
NM_002180.3(IGHMBP2):c.1015C>T (p.Leu339Phe) rs149045005 0.00016
NM_002529.4(NTRK1):c.*39C>T rs774009893 0.00016
NM_002529.4(NTRK1):c.640C>T (p.Arg214Trp) rs372041586 0.00016
NM_002618.4(PEX13):c.*2159T>C rs886056206 0.00016
NM_002778.4(PSAP):c.*376A>G rs141906397 0.00016
NM_002778.4(PSAP):c.*737G>A rs147046509 0.00016
NM_002857.4(PEX19):c.*169C>T rs192931972 0.00016
NM_003172.4(SURF1):c.745A>G (p.Asn249Asp) rs587669420 0.00016
NM_004082.5(DCTN1):c.570G>A (p.Pro190=) rs528908728 0.00016
NM_004589.4(SCO1):c.*349C>G rs151279533 0.00016
NM_004813.4(PEX16):c.726G>A (p.Ser242=) rs200414298 0.00016
NM_005006.7(NDUFS1):c.2006A>G (p.Asn669Ser) rs142716964 0.00016
NM_006158.5(NEFL):c.1329C>T (p.Tyr443=) rs140532785 0.00016
NM_014317.5(PDSS1):c.243C>T (p.Thr81=) rs762902803 0.00016
NM_014365.3(HSPB8):c.*648A>G rs770364674 0.00016
NM_014845.6(FIG4):c.-138T>C rs550585093 0.00016
NM_014845.6(FIG4):c.-84A>G rs764845399 0.00016
NM_014874.4(MFN2):c.*1794_*1796del rs540280019 0.00016
NM_018319.4(TDP1):c.885-15T>C rs375601290 0.00016
NM_020247.5(COQ8A):c.1665G>A (p.Met555Ile) rs199874519 0.00016
NM_021625.5(TRPV4):c.1584C>T (p.Asn528=) rs142749412 0.00016
NM_021625.5(TRPV4):c.1658+15C>T rs200083069 0.00016
NM_022124.6(CDH23):c.9799C>T (p.Arg3267Cys) rs201727938 0.00016
NM_024407.5(NDUFS7):c.270C>T (p.Ala90=) rs375120743 0.00016
NM_030962.4(SBF2):c.3843A>G (p.Thr1281=) rs147597665 0.00016
NM_030962.4(SBF2):c.514-12C>T rs770141264 0.00016
NM_033305.3(VPS13A):c.7096C>T (p.Pro2366Ser) rs200107412 0.00016
NM_133259.4(LRPPRC):c.*2099C>A rs771863074 0.00016
NM_133259.4(LRPPRC):c.*2192A>G rs189755235 0.00016
NM_133259.4(LRPPRC):c.*2224A>C rs757205247 0.00016
NM_133259.4(LRPPRC):c.*456G>C rs886056052 0.00016
NM_133259.4(LRPPRC):c.1262-12T>C rs149449510 0.00016
NM_133259.4(LRPPRC):c.141C>G (p.Pro47=) rs559176918 0.00016
NM_133259.4(LRPPRC):c.1583-14A>G rs372371276 0.00016
NM_198252.3(GSN):c.1727C>G (p.Ala576Gly) rs567372749 0.00016
NM_198252.3(GSN):c.754-11C>T rs374057474 0.00016
NM_000217.3(KCNA1):c.*4422A>T rs923448860 0.00015
NM_000371.4(TTR):c.384C>T (p.Ala128=) rs143906738 0.00015
NM_001005361.3(DNM2):c.528C>T (p.Pro176=) rs147579870 0.00015
NM_001005373.4(LRSAM1):c.1601C>T (p.Thr534Met) rs141542114 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_001365536.1(SCN9A):c.*1417A>G rs201120940 0.00015
NM_001370658.1(BTD):c.-105C>T rs184480128 0.00015
NM_001374736.1(DST):c.2950C>T (p.Arg984Trp) rs138162782 0.00015
NM_001376.5(DYNC1H1):c.11366T>C (p.Ile3789Thr) rs775444653 0.00015
NM_001376.5(DYNC1H1):c.2670G>T (p.Leu890=) rs142961295 0.00015
NM_002495.4(NDUFS4):c.13T>C (p.Ser5Pro) rs149323691 0.00015
NM_002857.4(PEX19):c.*77del rs771535781 0.00015
NM_004863.4(SPTLC2):c.*513C>T rs530076018 0.00015
NM_006096.4(NDRG1):c.*1339C>T rs539924589 0.00015
NM_006096.4(NDRG1):c.664G>A (p.Gly222Ser) rs199995009 0.00015
NM_015046.7(SETX):c.7100+9T>C rs200088320 0.00015
NM_016156.6(MTMR2):c.*910T>A rs555290971 0.00015
NM_020631.6(PLEKHG5):c.1616C>T (p.Ala539Val) rs370515061 0.00015
NM_021830.5(TWNK):c.-418C>T rs750659283 0.00015
NM_021830.5(TWNK):c.1101C>T (p.Ile367=) rs200798080 0.00015
NM_024577.4(SH3TC2):c.*13418G>T rs544487653 0.00015
NM_024577.4(SH3TC2):c.*20966T>G rs532239431 0.00015
NM_024577.4(SH3TC2):c.*2394C>T rs368101139 0.00015
NM_030962.4(SBF2):c.-128C>T rs886047579 0.00015
NM_030962.4(SBF2):c.1812C>T (p.Asp604=) rs765658939 0.00015
NM_133259.4(LRPPRC):c.179C>T (p.Ala60Val) rs546399905 0.00015
NM_181882.3(PRX):c.-20A>C rs780315081 0.00015
NM_000081.4(LYST):c.7806A>G (p.Gln2602=) rs372754364 0.00014
NM_000108.5(DLD):c.*739G>A rs181103944 0.00014
NM_000108.5(DLD):c.74A>C (p.Gln25Pro) rs61749951 0.00014
NM_000143.4(FH):c.122C>T (p.Ala41Val) rs201486221 0.00014
NM_000153.4(GALC):c.266C>T (p.Pro89Leu) rs201422931 0.00014
NM_000158.4(GBE1):c.1803G>A (p.Gln601=) rs368793136 0.00014
NM_000158.4(GBE1):c.45G>A (p.Glu15=) rs370326965 0.00014
NM_000217.3(KCNA1):c.*3503C>T rs532649581 0.00014
NM_000304.3(PMP22):c.-223C>T rs549380262 0.00014
NM_000318.3(PEX2):c.*1854A>C rs886063127 0.00014
NM_000371.3(TTR):c.*234G>C rs542619281 0.00014
NM_000371.4(TTR):c.-61G>A rs770403822 0.00014
NM_000466.3(PEX1):c.3250A>G (p.Met1084Val) rs781277635 0.00014
NM_000530.8(MPZ):c.*52G>A rs774701563 0.00014
NM_001005361.3(DNM2):c.1423-12G>A rs376753915 0.00014
NM_001005373.4(LRSAM1):c.1199G>A (p.Arg400Gln) rs150344223 0.00014
NM_001005373.4(LRSAM1):c.894G>A (p.Thr298=) rs771491533 0.00014
NM_001034850.3(RETREG1):c.1477C>T (p.Leu493=) rs759739482 0.00014
NM_001042472.3(ABHD12):c.-118T>C rs886056565 0.00014
NM_001079866.2(BCS1L):c.822G>A (p.Pro274=) rs112329020 0.00014
NM_001113491.2(SEPTIN9):c.*1292G>A rs747361957 0.00014
NM_001122955.4(BSCL2):c.133G>A (p.Gly45Ser) rs3763853 0.00014
NM_001127649.3(PEX26):c.29C>T (p.Ala10Val) rs768425084 0.00014
NM_001130823.3(DNMT1):c.2020-10C>T rs369373339 0.00014
NM_001351132.2(PEX5):c.-17+71G>A rs927673107 0.00014
NM_001365536.1(SCN9A):c.*2078C>T rs548072061 0.00014
NM_001370298.3(FGD4):c.1046A>G (p.Asn349Ser) rs147969494 0.00014
NM_001376.5(DYNC1H1):c.12102+6G>A rs377669980 0.00014
NM_001376.5(DYNC1H1):c.13359C>T (p.Asn4453=) rs140033479 0.00014
NM_001386140.1(MTTP):c.*436A>G rs1450371659 0.00014
NM_001723.7(DST):c.7557G>A (p.Gln2519=) rs368876285 0.00014
NM_002047.2(GARS1):c.-80C>T rs886062270 0.00014
NM_002180.3(IGHMBP2):c.*465C>T rs770309885 0.00014
NM_002180.3(IGHMBP2):c.1194G>A (p.Ala398=) rs745534850 0.00014
NM_002180.3(IGHMBP2):c.2467C>T (p.Arg823Cys) rs192806153 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_003560.4(PLA2G6):c.2259C>T (p.Val753=) rs749966284 0.00014
NM_004168.4(SDHA):c.777C>T (p.Tyr259=) rs140243793 0.00014
NM_004544.4(NDUFA10):c.*389C>T rs539829771 0.00014
NM_005006.7(NDUFS1):c.*866A>C rs749790811 0.00014
NM_006096.4(NDRG1):c.*677C>T rs886062712 0.00014
NM_006329.4(FBLN5):c.1191G>A (p.Thr397=) rs148660796 0.00014
NM_007103.4(NDUFV1):c.1188G>A (p.Met396Ile) rs142050639 0.00014
NM_012073.5(CCT5):c.*1404T>G rs780281527 0.00014
NM_012073.5(CCT5):c.*1405T>C rs747318041 0.00014
NM_014365.3(HSPB8):c.-314T>C rs754447057 0.00014
NM_014874.4(MFN2):c.*1276G>A rs766342161 0.00014
NM_014874.4(MFN2):c.-161G>A rs140094248 0.00014
NM_014874.4(MFN2):c.474+4A>G rs141974160 0.00014
NM_016156.6(MTMR2):c.16A>T (p.Ser6Cys) rs377006678 0.00014
NM_016156.6(MTMR2):c.604C>G (p.Pro202Ala) rs186380748 0.00014
NM_018319.4(TDP1):c.208T>A (p.Ser70Thr) rs140058160 0.00014
NM_020247.5(COQ8A):c.1258G>A (p.Asp420Asn) rs147097934 0.00014
NM_020247.5(COQ8A):c.1572+7G>A rs371874740 0.00014
NM_020631.6(PLEKHG5):c.2746A>C (p.Thr916Pro) rs187886272 0.00014
NM_021830.5(TWNK):c.*341G>A rs1007423847 0.00014
NM_024577.4(SH3TC2):c.*1545A>G rs898075581 0.00014
NM_030962.4(SBF2):c.*608G>C rs776490076 0.00014
NM_030962.4(SBF2):c.2197C>G (p.Gln733Glu) rs145199888 0.00014
NM_030962.4(SBF2):c.3754A>T (p.Ser1252Cys) rs139967004 0.00014
NM_030973.4(MED25):c.1966C>A (p.Pro656Thr) rs199761611 0.00014
NM_033305.3(VPS13A):c.9314T>A (p.Leu3105His) rs141321409 0.00014
NM_033305.3(VPS13A):c.971A>G (p.His324Arg) rs138568018 0.00014
NM_133259.4(LRPPRC):c.2569A>G (p.Arg857Gly) rs200138144 0.00014
NM_181882.3(PRX):c.1026A>C (p.Ala342=) rs150772010 0.00014
NM_181882.3(PRX):c.2449C>T (p.Arg817Cys) rs147441856 0.00014
NM_198252.3(GSN):c.1191+4C>T rs372713895 0.00014
NM_000081.4(LYST):c.1494A>G (p.Arg498=) rs201412615 0.00013
NM_000081.4(LYST):c.2150A>G (p.Asn717Ser) rs201255245 0.00013
NM_000108.5(DLD):c.-8G>T rs372155330 0.00013
NM_000143.4(FH):c.739-10T>C rs201971572 0.00013
NM_000182.5(HADHA):c.1690-14C>T rs142401180 0.00013
NM_000217.3(KCNA1):c.*1504G>A rs770664473 0.00013
NM_000274.4(OAT):c.-4C>G rs372151002 0.00013
NM_000274.4(OAT):c.1160-13T>A rs372850085 0.00013
NM_000274.4(OAT):c.736C>T (p.Leu246=) rs146882296 0.00013
NM_000318.3(PEX2):c.*595C>T rs754113775 0.00013
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102 0.00013
NM_001042472.3(ABHD12):c.*353G>A rs886056563 0.00013
NM_001122955.4(BSCL2):c.448G>A (p.Val150Ile) rs149412531 0.00013
NM_001127649.3(PEX26):c.*1684T>C rs886057255 0.00013
NM_001130823.3(DNMT1):c.2667C>T (p.Tyr889=) rs199832007 0.00013
NM_001130823.3(DNMT1):c.382C>A (p.Pro128Thr) rs146601335 0.00013
NM_001136472.2(LITAF):c.-6+657C>A rs374282727 0.00013
NM_001303.4(COX10):c.*591_*592del rs886052606 0.00013
NM_001303.4(COX10):c.*894G>T rs573080780 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_001365536.1(SCN9A):c.*408A>G rs201291538 0.00013
NM_001370298.3(FGD4):c.*4756A>G rs763037960 0.00013
NM_001370298.3(FGD4):c.2506A>G (p.Met836Val) rs140220443 0.00013
NM_001376.4(DYNC1H1):c.-137C>T rs886050367 0.00013
NM_001376.5(DYNC1H1):c.12075C>T (p.Leu4025=) rs373636519 0.00013
NM_002180.3(IGHMBP2):c.*860G>A rs149898985 0.00013
NM_002529.4(NTRK1):c.570C>G (p.Ser190Arg) rs138608619 0.00013
NM_002778.4(PSAP):c.557G>A (p.Arg186His) rs138880818 0.00013
NM_004082.5(DCTN1):c.*49G>A rs368049781 0.00013
NM_004082.5(DCTN1):c.3345+13C>T rs376707439 0.00013
NM_004168.4(SDHA):c.1979C>G (p.Ala660Gly) rs191412461 0.00013
NM_004544.4(NDUFA10):c.*1057T>G rs541016943 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_006096.4(NDRG1):c.*2C>T rs200367524 0.00013
NM_006096.4(NDRG1):c.528C>T (p.Ala176=) rs191237702 0.00013
NM_006158.5(NEFL):c.227T>C (p.Val76Ala) rs58907919 0.00013
NM_006158.5(NEFL):c.338A>C (p.Gln113Pro) rs758191113 0.00013
NM_006158.5(NEFL):c.339G>C (p.Gln113His) rs750251152 0.00013
NM_012073.5(CCT5):c.1519A>G (p.Ile507Val) rs138168151 0.00013
NM_014845.6(FIG4):c.205C>T (p.Arg69Cys) rs540674198 0.00013
NM_015046.7(SETX):c.3992C>T (p.Pro1331Leu) rs11243731 0.00013
NM_016156.6(MTMR2):c.*133C>G rs367677499 0.00013
NM_020247.5(COQ8A):c.-75C>T rs886046064 0.00013
NM_020247.5(COQ8A):c.1644C>T (p.Thr548=) rs141423403 0.00013
NM_020381.4(PDSS2):c.*769G>A rs782037173 0.00013
NM_021830.5(TWNK):c.-290G>C rs62626270 0.00013
NM_024577.4(SH3TC2):c.*11542G>A rs886060130 0.00013
NM_024577.4(SH3TC2):c.*15383C>A rs186004627 0.00013
NM_024577.4(SH3TC2):c.*2500C>A rs559833500 0.00013
NM_024577.4(SH3TC2):c.*6557T>C rs199797914 0.00013
NM_024577.4(SH3TC2):c.3049G>A (p.Ala1017Thr) rs186029710 0.00013
NM_024577.4(SH3TC2):c.31C>T (p.Arg11Trp) rs149762843 0.00013
NM_030962.4(SBF2):c.*1091G>A rs182391972 0.00013
NM_033305.3(VPS13A):c.*1194A>C rs556413345 0.00013
NM_033305.3(VPS13A):c.787G>A (p.Val263Met) rs372957084 0.00013
NM_078470.6(COX15):c.*2857A>G rs576268362 0.00013
NM_078470.6(COX15):c.131G>A (p.Ser44Asn) rs141506146 0.00013
NM_078470.6(COX15):c.255T>C (p.Ile85=) rs147881961 0.00013
NM_133259.4(LRPPRC):c.2965C>T (p.Arg989Cys) rs199706677 0.00013
NM_170707.4(LMNA):c.1488+14C>T rs377700689 0.00013
NM_198252.3(GSN):c.1170C>T (p.Asp390=) rs147583697 0.00013
NM_000081.4(LYST):c.2517T>C (p.Ile839=) rs78172154 0.00012
NM_000143.4(FH):c.379-15A>T rs374529177 0.00012
NM_000284.4(PDHA1):c.*707G>A rs150945967 0.00012
NM_000287.4(PEX6):c.1606C>T (p.Arg536Trp) rs368752843 0.00012
NM_000304.4(PMP22):c.*243C>T rs533987307 0.00012
NM_000318.3(PEX2):c.*2519G>A rs1005895700 0.00012
NM_000318.3(PEX2):c.*596G>A rs139852334 0.00012
NM_000370.3(TTPA):c.*1422T>G rs913423928 0.00012
NM_000370.3(TTPA):c.635C>A (p.Pro212Gln) rs141163645 0.00012
NM_000487.6(ARSA):c.*625G>A rs778826401 0.00012
NM_000487.6(ARSA):c.1258A>C (p.Ser420Arg) rs139073195 0.00012
NM_000521.4(HEXB):c.1627G>A (p.Ala543Thr) rs121907984 0.00012
NM_000784.4(CYP27A1):c.578G>A (p.Arg193Gln) rs181649030 0.00012
NM_001127649.3(PEX26):c.*2308A>T rs775281083 0.00012
NM_001370298.3(FGD4):c.167-61842A>G rs56168193 0.00012
NM_001374736.1(DST):c.3853A>G (p.Asn1285Asp) rs201419873 0.00012
NM_001386140.1(MTTP):c.*468A>C rs556582995 0.00012
NM_001605.3(AARS1):c.1671+10C>T rs184240527 0.00012
NM_001605.3(AARS1):c.2592C>T (p.Ser864=) rs11537665 0.00012
NM_002618.4(PEX13):c.*1174A>T rs182453488 0.00012
NM_002618.4(PEX13):c.*1376C>T rs927046080 0.00012
NM_003560.4(PLA2G6):c.16C>T (p.Arg6Cys) rs143250889 0.00012
NM_004544.4(NDUFA10):c.*2111G>A rs752139055 0.00012
NM_004565.3(PEX14):c.*369A>G rs977546775 0.00012
NM_004863.4(SPTLC2):c.1050C>T (p.Gly350=) rs539265514 0.00012
NM_005006.7(NDUFS1):c.*27C>T rs369746514 0.00012
NM_006329.4(FBLN5):c.604G>A (p.Gly202Arg) rs80338765 0.00012
NM_014845.6(FIG4):c.1271+5A>G rs374583399 0.00012
NM_014874.4(MFN2):c.*256G>A rs557772799 0.00012
NM_015046.7(SETX):c.*2016G>A rs752950104 0.00012
NM_015046.7(SETX):c.4511A>G (p.Glu1504Gly) rs781275166 0.00012
NM_018972.4(GDAP1):c.965C>T (p.Thr322Met) rs199529910 0.00012
NM_020247.5(COQ8A):c.-113A>G rs886046063 0.00012
NM_020312.4(COQ9):c.*168A>G rs376172393 0.00012
NM_020631.6(PLEKHG5):c.2201C>T (p.Ser734Phe) rs554772993 0.00012
NM_022041.4(GAN):c.*48C>T rs182080874 0.00012
NM_024407.5(NDUFS7):c.138G>A (p.Leu46=) rs147710123 0.00012
NM_024577.4(SH3TC2):c.*14429T>G rs577465518 0.00012
NM_024577.4(SH3TC2):c.*14480A>G rs564255234 0.00012
NM_024577.4(SH3TC2):c.*20400A>C rs1019391321 0.00012
NM_024577.4(SH3TC2):c.*4182A>G rs886060177 0.00012
NM_024577.4(SH3TC2):c.*5748G>A rs1038952809 0.00012
NM_078470.6(COX15):c.*1362G>A rs750145039 0.00012
NM_181882.3(PRX):c.2229C>T (p.Pro743=) rs144975214 0.00012
NM_198252.3(GSN):c.*126T>C rs886063411 0.00012
NM_198252.3(GSN):c.1782G>A (p.Leu594=) rs139239940 0.00012
NM_000081.4(LYST):c.3311G>A (p.Arg1104Gln) rs148299757 0.00011
NM_000153.4(GALC):c.328+6A>G rs201977747 0.00011
NM_000153.4(GALC):c.82G>A (p.Ala28Thr) rs776663863 0.00011
NM_000158.4(GBE1):c.*226T>C rs748963117 0.00011
NM_000274.4(OAT):c.*561G>A rs375454907 0.00011
NM_000274.4(OAT):c.478G>A (p.Val160Met) rs148433929 0.00011
NM_000284.4(PDHA1):c.*1450C>T rs747229060 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_000288.4(PEX7):c.695G>A (p.Arg232Gln) rs191969418 0.00011
NM_000318.3(PEX2):c.*40G>A rs148915806 0.00011
NM_000384.3(APOB):c.11466G>A (p.Val3822=) rs755842633 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_000487.6(ARSA):c.*1171A>G rs918518184 0.00011
NM_000487.6(ARSA):c.-88G>A rs562486733 0.00011
NM_000487.6(ARSA):c.434G>A (p.Arg145Gln) rs551548107 0.00011
NM_000925.3(PDHB):c.-49T>C rs373907802 0.00011
NM_001005361.3(DNM2):c.1384A>G (p.Thr462Ala) rs201575500 0.00011
NM_001005373.4(LRSAM1):c.2110C>T (p.Arg704Cys) rs150984897 0.00011
NM_001005373.4(LRSAM1):c.751-8C>G rs367823841 0.00011
NM_001034850.3(RETREG1):c.1169C>T (p.Thr390Met) rs374082497 0.00011
NM_001079866.2(BCS1L):c.771G>A (p.Thr257=) rs148302981 0.00011
NM_001113491.2(SEPTIN9):c.1041C>T (p.His347=) rs200363929 0.00011
NM_001113491.2(SEPTIN9):c.76+12321C>G rs989073256 0.00011
NM_001122955.4(BSCL2):c.1234+7G>A rs200631909 0.00011
NM_001122955.4(BSCL2):c.588C>T (p.Cys196=) rs369806785 0.00011
NM_001127649.3(PEX26):c.571C>T (p.Arg191Trp) rs150451390 0.00011
NM_001130823.3(DNMT1):c.4876G>A (p.Glu1626Lys) rs201774098 0.00011
NM_001130823.3(DNMT1):c.868G>A (p.Glu290Lys) rs200024502 0.00011
NM_001130823.3(DNMT1):c.977A>C (p.Gln326Pro) rs143287044 0.00011
NM_001136472.2(LITAF):c.*1853A>G rs759832566 0.00011
NM_001303.4(COX10):c.*13G>A rs371047487 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_001365536.1(SCN9A):c.*410A>T rs200153085 0.00011
NM_001365536.1(SCN9A):c.2875-6A>G rs760470229 0.00011
NM_001370298.3(FGD4):c.*2192G>A rs568095427 0.00011
NM_001370298.3(FGD4):c.1142C>T (p.Ser381Leu) rs201915829 0.00011
NM_001374736.1(DST):c.3375G>A (p.Ala1125=) rs149789667 0.00011
NM_001374736.1(DST):c.4930-984G>A rs77216326 0.00011
NM_001376.5(DYNC1H1):c.5311G>A (p.Gly1771Arg) rs139842853 0.00011
NM_001376.5(DYNC1H1):c.9324A>G (p.Glu3108=) rs142338762 0.00011
NM_001605.3(AARS1):c.1509G>A (p.Val503=) rs138406510 0.00011
NM_001723.7(DST):c.7495C>T (p.Arg2499Trp) rs369328276 0.00011
NM_001953.5(TYMP):c.*10G>A rs369012029 0.00011
NM_001953.5(TYMP):c.*3C>T rs372620403 0.00011
NM_001953.5(TYMP):c.437G>A (p.Arg146His) rs188802138 0.00011
NM_002180.3(IGHMBP2):c.103A>G (p.Ile35Val) rs199586231 0.00011
NM_002529.4(NTRK1):c.1808C>G (p.Ser603Cys) rs188270548 0.00011
NM_002529.4(NTRK1):c.279G>A (p.Leu93=) rs147983523 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_003477.3(PDHX):c.*650G>A rs886048249 0.00011
NM_003477.3(PDHX):c.*763G>A rs886048250 0.00011
NM_003477.3(PDHX):c.532G>A (p.Gly178Arg) rs765182974 0.00011
NM_003560.4(PLA2G6):c.*191C>T rs886057499 0.00011
NM_003680.3(YARS1):c.-437G>A rs537314587 0.00011
NM_004082.5(DCTN1):c.*251T>G rs756362040 0.00011
NM_004544.4(NDUFA10):c.*2649G>A rs886055815 0.00011
NM_004544.4(NDUFA10):c.*3409G>A rs146483651 0.00011
NM_004565.3(PEX14):c.993T>G (p.Asp331Glu) rs79954820 0.00011
NM_004637.6(RAB7A):c.552C>T (p.Asn184=) rs143140848 0.00011
NM_004863.4(SPTLC2):c.*3931G>C rs371265800 0.00011
NM_004863.4(SPTLC2):c.*4107C>T rs991399387 0.00011
NM_004863.4(SPTLC2):c.*823G>T rs879635428 0.00011
NM_005908.4(MANBA):c.*172G>A rs146374185 0.00011
NM_005908.4(MANBA):c.1913G>A (p.Arg638His) rs781584789 0.00011
NM_005908.4(MANBA):c.849+13A>C rs76954465 0.00011
NM_006415.4(SPTLC1):c.387C>T (p.Gly129=) rs141265918 0.00011
NM_014845.6(FIG4):c.1863C>A (p.Thr621=) rs201744761 0.00011
NM_014874.4(MFN2):c.*1153C>T rs542684406 0.00011
NM_014874.4(MFN2):c.*26G>A rs374800481 0.00011
NM_014874.4(MFN2):c.*36G>A rs377468070 0.00011
NM_014874.4(MFN2):c.1987C>T (p.Arg663Cys) rs369762154 0.00011
NM_018319.4(TDP1):c.*1015G>A rs374734859 0.00011
NM_018319.4(TDP1):c.1342C>T (p.Arg448Trp) rs141725364 0.00011
NM_020247.5(COQ8A):c.*110G>C rs1046215592 0.00011
NM_020247.5(COQ8A):c.1752C>T (p.Thr584=) rs201865243 0.00011
NM_020247.5(COQ8A):c.525C>T (p.Ala175=) rs201787750 0.00011
NM_020631.4(PLEKHG5):c.*1347G>T rs886046486 0.00011
NM_020631.6(PLEKHG5):c.2164G>A (p.Glu722Lys) rs201551894 0.00011
NM_022041.4(GAN):c.1323T>C (p.Tyr441=) rs368072478 0.00011
NM_022041.4(GAN):c.944C>T (p.Pro315Leu) rs144486241 0.00011
NM_022124.6(CDH23):c.*80G>A rs75715348 0.00011
NM_024577.4(SH3TC2):c.*12088_*12091del rs886060127 0.00011
NM_024577.4(SH3TC2):c.*19019T>C rs777292025 0.00011
NM_024577.4(SH3TC2):c.*19989G>A rs560779315 0.00011
NM_024577.4(SH3TC2):c.*8878T>A rs886060151 0.00011
NM_030962.4(SBF2):c.4712A>G (p.Asn1571Ser) rs371960255 0.00011
NM_033305.3(VPS13A):c.1785+7A>G rs367906505 0.00011
NM_033305.3(VPS13A):c.4979C>G (p.Thr1660Ser) rs139073067 0.00011
NM_078470.6(COX15):c.*2839G>T rs1025606598 0.00011
NM_174889.4(NDUFAF2):c.-63G>T rs886060724 0.00011
NM_174889.5(NDUFAF2):c.422A>T (p.Glu141Val) rs749677218 0.00011
NM_198252.3(GSN):c.2046G>A (p.Thr682=) rs747385746 0.00011
NM_000081.4(LYST):c.10221C>T (p.Tyr3407=) rs146457386 0.00010
NM_000081.4(LYST):c.196T>C (p.Leu66=) rs138393416 0.00010
NM_000143.4(FH):c.33G>C (p.Ser11=) rs200542051 0.00010
NM_000182.5(HADHA):c.*239C>T rs1001518961 0.00010
NM_000217.3(KCNA1):c.*2554C>T rs768068963 0.00010
NM_000217.3(KCNA1):c.*5212C>T rs139521962 0.00010
NM_000217.3(KCNA1):c.*883T>G rs756451969 0.00010
NM_000217.3(KCNA1):c.*88G>A rs886049513 0.00010
NM_000286.3(PEX12):c.-147C>T rs559905700 0.00010
NM_000370.3(TTPA):c.*1368C>G rs553853197 0.00010
NM_000487.6(ARSA):c.*794C>T rs886057652 0.00010
NM_000487.6(ARSA):c.511G>A (p.Asp171Asn) rs74315466 0.00010
NM_000784.4(CYP27A1):c.256G>A (p.Val86Met) rs200604732 0.00010
NM_000784.4(CYP27A1):c.792G>A (p.Val264=) rs144018609 0.00010
NM_001005361.3(DNM2):c.*14C>T rs369529119 0.00010
NM_001005373.4(LRSAM1):c.620-3C>T rs373015900 0.00010
NM_001034850.3(RETREG1):c.723A>G (p.Lys241=) rs746380834 0.00010
NM_001113491.2(SEPTIN9):c.538G>A (p.Ala180Thr) rs199861986 0.00010
NM_001122955.4(BSCL2):c.*49T>G rs368144792 0.00010
NM_001122955.4(BSCL2):c.*58G>A rs755714656 0.00010
NM_001122955.4(BSCL2):c.745G>A (p.Ala249Thr) rs10776 0.00010
NM_001122955.4(BSCL2):c.939C>T (p.Ile313=) rs200300686 0.00010
NM_001136472.2(LITAF):c.*1054A>C rs967890581 0.00010
NM_001136472.2(LITAF):c.*598G>A rs367546754 0.00010
NM_001351132.2(PEX5):c.1653C>G (p.Leu551=) rs200215904 0.00010
NM_001365536.1(SCN9A):c.*3204G>A rs201300071 0.00010
NM_001365536.1(SCN9A):c.965+13T>C rs772337722 0.00010
NM_001374736.1(DST):c.4390C>T (p.Arg1464Trp) rs200316560 0.00010
NM_001374736.1(DST):c.4831-6T>A rs751953259 0.00010
NM_001374736.1(DST):c.4930-460A>G rs886061641 0.00010
NM_001376.5(DYNC1H1):c.2211T>A (p.Val737=) rs149902566 0.00010
NM_001605.3(AARS1):c.1253A>G (p.Tyr418Cys) rs147433234 0.00010
NM_001605.3(AARS1):c.1410C>T (p.Ile470=) rs79785372 0.00010
NM_001605.3(AARS1):c.2730C>T (p.Ala910=) rs199839663 0.00010
NM_001605.3(AARS1):c.333+3A>C rs747431164 0.00010
NM_002047.4(GARS1):c.1809+14T>C rs367739730 0.00010
NM_002047.4(GARS1):c.765G>A (p.Ala255=) rs201447520 0.00010
NM_002180.3(IGHMBP2):c.*565G>A rs935838633 0.00010
NM_002180.3(IGHMBP2):c.2856C>T (p.Ala952=) rs759627672 0.00010
NM_002180.3(IGHMBP2):c.2881C>T (p.Leu961=) rs145631247 0.00010
NM_002529.4(NTRK1):c.711G>A (p.Thr237=) rs537430475 0.00010
NM_002778.4(PSAP):c.*574G>C rs549402343 0.00010
NM_002778.4(PSAP):c.1172C>T (p.Thr391Met) rs202125074 0.00010
NM_003477.3(PDHX):c.577G>C (p.Glu193Gln) rs149337104 0.00010
NM_003560.4(PLA2G6):c.1725G>A (p.Thr575=) rs200599704 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_004082.5(DCTN1):c.2213A>G (p.Gln738Arg) rs143800457 0.00010
NM_004082.5(DCTN1):c.2353C>T (p.Arg785Trp) rs121909344 0.00010
NM_004082.5(DCTN1):c.788G>T (p.Ser263Ile) rs368273709 0.00010
NM_004168.4(SDHA):c.*189C>T rs185107377 0.00010
NM_004376.5(COX15):c.*3411G>C rs914156906 0.00010
NM_004813.4(PEX16):c.*557G>C rs770223341 0.00010
NM_004863.4(SPTLC2):c.*2186A>G rs377018367 0.00010
NM_004863.4(SPTLC2):c.*3315C>G rs886050839 0.00010
NM_004863.4(SPTLC2):c.763C>T (p.Leu255=) rs773905221 0.00010
NM_006096.4(NDRG1):c.-8G>A rs200465804 0.00010
NM_006096.4(NDRG1):c.874C>A (p.Leu292Ile) rs745520295 0.00010
NM_006329.4(FBLN5):c.1051C>T (p.Arg351Trp) rs28939073 0.00010
NM_007103.4(NDUFV1):c.1353G>T (p.Gln451His) rs768582587 0.00010
NM_007103.4(NDUFV1):c.446T>C (p.Met149Thr) rs143216424 0.00010
NM_007103.4(NDUFV1):c.800G>A (p.Arg267Lys) rs141400889 0.00010
NM_012073.5(CCT5):c.1132A>G (p.Lys378Glu) rs773314762 0.00010
NM_014874.4(MFN2):c.*1706T>G rs543365043 0.00010
NM_014874.4(MFN2):c.*813G>A rs771869272 0.00010
NM_014874.4(MFN2):c.842G>C (p.Cys281Ser) rs147136530 0.00010
NM_015046.7(SETX):c.4020G>T (p.Lys1340Asn) rs368323660 0.00010
NM_015046.7(SETX):c.431A>G (p.Asn144Ser) rs767453182 0.00010
NM_018319.4(TDP1):c.*801G>A rs1017363264 0.00010
NM_018319.4(TDP1):c.19T>C (p.Tyr7His) rs754747710 0.00010
NM_020312.3(COQ9):c.-37C>G rs886052178 0.00010
NM_020631.6(PLEKHG5):c.2457C>T (p.Tyr819=) rs184541137 0.00010
NM_021625.5(TRPV4):c.1398C>T (p.Phe466=) rs146929022 0.00010
NM_022041.4(GAN):c.*551C>T rs886052341 0.00010
NM_022041.4(GAN):c.1511A>G (p.Tyr504Cys) rs147864771 0.00010
NM_022041.4(GAN):c.1630G>A (p.Val544Met) rs200071978 0.00010
NM_024577.4(SH3TC2):c.*10875T>C rs184560843 0.00010
NM_024577.4(SH3TC2):c.*15824G>A rs530880070 0.00010
NM_024577.4(SH3TC2):c.*19631T>A rs961541157 0.00010
NM_024577.4(SH3TC2):c.*20362T>C rs571268825 0.00010
NM_024577.4(SH3TC2):c.*5740C>T rs886060167 0.00010
NM_024577.4(SH3TC2):c.188G>A (p.Arg63Lys) rs747938069 0.00010
NM_024577.4(SH3TC2):c.3413G>A (p.Ser1138Asn) rs150805608 0.00010
NM_033305.3(VPS13A):c.*474G>A rs531360785 0.00010
NM_033305.3(VPS13A):c.-158G>C rs1057515644 0.00010
NM_033305.3(VPS13A):c.3282C>T (p.Asn1094=) rs372019796 0.00010
NM_033305.3(VPS13A):c.4017A>G (p.Ile1339Met) rs151129933 0.00010
NM_133259.4(LRPPRC):c.3901-6T>G rs553466522 0.00010
NM_133259.4(LRPPRC):c.70C>G (p.Leu24Val) rs749629864 0.00010
NM_181882.3(PRX):c.1836C>T (p.Ala612=) rs574899855 0.00010
NM_181882.3(PRX):c.2909G>A (p.Arg970Gln) rs764162630 0.00010
NM_198252.3(GSN):c.*205G>A rs779431879 0.00010
NM_000081.4(LYST):c.281C>T (p.Thr94Ile) rs777389303 0.00009
NM_000108.5(DLD):c.*1877A>G rs182010485 0.00009
NM_000143.4(FH):c.*102T>C rs200093224 0.00009
NM_000166.6(GJB1):c.*402G>A rs753223616 0.00009
NM_000182.5(HADHA):c.1284C>T (p.Asn428=) rs199535840 0.00009
NM_000182.5(HADHA):c.1655C>T (p.Ala552Val) rs369588406 0.00009
NM_000182.5(HADHA):c.2147-8C>G rs368976628 0.00009
NM_000318.3(PEX2):c.*1755A>G rs886063129 0.00009
NM_000318.3(PEX2):c.*2973T>C rs751974703 0.00009
NM_000371.4(TTR):c.354C>T (p.Asn118=) rs11541797 0.00009
NM_000384.3(APOB):c.11911G>A (p.Glu3971Lys) rs373477107 0.00009
NM_000399.5(EGR2):c.*618T>C rs748486219 0.00009
NM_000487.6(ARSA):c.*1987G>A rs886057643 0.00009
NM_000520.5(HEXA):c.-141G>A rs886051462 0.00009
NM_000520.6(HEXA):c.1397A>G (p.Asn466Ser) rs200936836 0.00009
NM_000521.3(HEXB):c.-52C>A rs886060748 0.00009
NM_001005361.3(DNM2):c.*391C>T rs886054147 0.00009
NM_001005361.3(DNM2):c.2313G>A (p.Pro771=) rs147463138 0.00009
NM_001005361.3(DNM2):c.555C>T (p.Asp185=) rs140788791 0.00009
NM_001005361.3(DNM2):c.633C>T (p.Asp211=) rs200191870 0.00009
NM_001005373.4(LRSAM1):c.*588T>A rs886063461 0.00009
NM_001005373.4(LRSAM1):c.1153G>A (p.Val385Ile) rs373570877 0.00009
NM_001005373.4(LRSAM1):c.1422+15T>A rs372509526 0.00009
NM_001005373.4(LRSAM1):c.1746G>A (p.Ser582=) rs199997686 0.00009
NM_001005373.4(LRSAM1):c.1772C>T (p.Ala591Val) rs139344911 0.00009
NM_001005373.4(LRSAM1):c.480C>T (p.Asn160=) rs147205387 0.00009
NM_001042472.3(ABHD12):c.-82_-76del rs886056564 0.00009
NM_001042472.3(ABHD12):c.453C>T (p.Asn151=) rs375299452 0.00009
NM_001130823.3(DNMT1):c.*274T>C rs886054125 0.00009
NM_001130823.3(DNMT1):c.2914G>A (p.Val972Met) rs148038464 0.00009
NM_001130823.3(DNMT1):c.483T>C (p.Thr161=) rs764496230 0.00009
NM_001130823.3(DNMT1):c.520A>C (p.Thr174Pro) rs201319352 0.00009
NM_001136472.2(LITAF):c.*1632C>G rs74808365 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_001365536.1(SCN9A):c.*887T>C rs200611007 0.00009
NM_001365536.1(SCN9A):c.2165T>C (p.Leu722Ser) rs187526567 0.00009
NM_001365536.1(SCN9A):c.5711G>A (p.Arg1904His) rs79805025 0.00009
NM_001365951.3(KIF1B):c.315T>C (p.Tyr105=) rs144889528 0.00009
NM_001370298.3(FGD4):c.1543+13T>C rs762177862 0.00009
NM_001374736.1(DST):c.2719C>T (p.Arg907Trp) rs775464446 0.00009
NM_001376.5(DYNC1H1):c.13515+8C>T rs200901713 0.00009
NM_001376.5(DYNC1H1):c.13782G>A (p.Lys4594=) rs147580834 0.00009
NM_001376.5(DYNC1H1):c.1560T>C (p.Ile520=) rs761916499 0.00009
NM_001376.5(DYNC1H1):c.7152C>T (p.Ser2384=) rs376471830 0.00009
NM_001386140.1(MTTP):c.124G>A (p.Val42Ile) rs756998920 0.00009
NM_001953.5(TYMP):c.859G>A (p.Val287Met) rs781064742 0.00009
NM_002047.4(GARS1):c.270C>T (p.Asp90=) rs369898799 0.00009
NM_002047.4(GARS1):c.700G>A (p.Glu234Lys) rs373326652 0.00009
NM_002180.3(IGHMBP2):c.*417C>A rs117542830 0.00009
NM_002180.3(IGHMBP2):c.901G>A (p.Asp301Asn) rs139635469 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_002778.4(PSAP):c.1088C>T (p.Thr363Met) rs140066253 0.00009
NM_002778.4(PSAP):c.577-10T>C rs185892516 0.00009
NM_002778.4(PSAP):c.94T>G (p.Trp32Gly) rs200008050 0.00009
NM_003477.2(PDHX):c.-354C>T rs761199870 0.00009
NM_003477.3(PDHX):c.317A>G (p.Asp106Gly) rs146456454 0.00009
NM_003560.4(PLA2G6):c.1742+12C>T rs11570739 0.00009
NM_003680.4(YARS1):c.*680A>G rs536402126 0.00009
NM_004168.4(SDHA):c.1055G>A (p.Arg352Gln) rs199844384 0.00009
NM_004168.4(SDHA):c.1661G>A (p.Arg554Gln) rs376391115 0.00009
NM_004376.5(COX15):c.*2742A>G rs188328622 0.00009
NM_004544.4(NDUFA10):c.*3067C>T rs564992184 0.00009
NM_004544.4(NDUFA10):c.*765C>T rs144208727 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_004637.6(RAB7A):c.*1142G>A rs747470481 0.00009
NM_004637.6(RAB7A):c.*989C>G rs1039323764 0.00009
NM_004637.6(RAB7A):c.-115C>T rs374777610 0.00009
NM_004813.4(PEX16):c.946G>A (p.Val316Ile) rs775371916 0.00009
NM_004863.4(SPTLC2):c.*4755C>T rs548820679 0.00009
NM_005006.7(NDUFS1):c.1612C>T (p.Arg538Trp) rs138887128 0.00009
NM_005006.7(NDUFS1):c.1748T>C (p.Ile583Thr) rs773111037 0.00009
NM_006096.4(NDRG1):c.*1299C>T rs926267815 0.00009
NM_006096.4(NDRG1):c.663C>T (p.Pro221=) rs377225752 0.00009
NM_006308.3(HSPB3):c.-67C>T rs913988211 0.00009
NM_006329.4(FBLN5):c.*98G>A rs568348723 0.00009
NM_007103.4(NDUFV1):c.1378C>T (p.Arg460Trp) rs372047256 0.00009
NM_014317.5(PDSS1):c.*47A>G rs200899328 0.00009
NM_014365.3(HSPB8):c.*123G>A rs987225344 0.00009
NM_014365.3(HSPB8):c.14A>G (p.Gln5Arg) rs146900850 0.00009
NM_014845.6(FIG4):c.350C>T (p.Ala117Val) rs551339249 0.00009
NM_018319.4(TDP1):c.*776T>C rs761481355 0.00009
NM_018319.4(TDP1):c.15C>T (p.Gly5=) rs779666160 0.00009
NM_018972.4(GDAP1):c.*1183G>A rs756257305 0.00009
NM_018972.4(GDAP1):c.*618C>T rs886063106 0.00009
NM_018972.4(GDAP1):c.693A>T (p.Pro231=) rs181157785 0.00009
NM_020631.5(PLEKHG5):c.*801G>A rs886046491 0.00009
NM_020631.6(PLEKHG5):c.518G>A (p.Arg173Gln) rs142378760 0.00009
NM_021830.5(TWNK):c.-470G>A rs886046626 0.00009
NM_022041.4(GAN):c.1199C>G (p.Thr400Ser) rs368571975 0.00009
NM_022124.6(CDH23):c.9983G>A (p.Arg3328His) rs148475933 0.00009
NM_024577.4(SH3TC2):c.*10132A>G rs886060138 0.00009
NM_024577.4(SH3TC2):c.*10863C>T rs181346624 0.00009
NM_024577.4(SH3TC2):c.*14985A>G rs886060116 0.00009
NM_024577.4(SH3TC2):c.*16261C>T rs150690882 0.00009
NM_024577.4(SH3TC2):c.*16590A>G rs564063667 0.00009
NM_024577.4(SH3TC2):c.*20412A>T rs774453230 0.00009
NM_024577.4(SH3TC2):c.*21395T>C rs886060094 0.00009
NM_024577.4(SH3TC2):c.*22034C>T rs886060093 0.00009
NM_024577.4(SH3TC2):c.*22199C>T rs778637809 0.00009
NM_024577.4(SH3TC2):c.*8217A>G rs768467653 0.00009
NM_024577.4(SH3TC2):c.*9026A>T rs1000086928 0.00009
NM_024577.4(SH3TC2):c.*9034A>G rs750855366 0.00009
NM_024577.4(SH3TC2):c.1002-7G>A rs752528409 0.00009
NM_024577.4(SH3TC2):c.280-5C>T rs201937366 0.00009
NM_024577.4(SH3TC2):c.549C>T (p.Ala183=) rs147013935 0.00009
NM_030962.4(SBF2):c.*78G>C rs184117822 0.00009
NM_030962.4(SBF2):c.1296+13T>C rs376685939 0.00009
NM_033305.3(VPS13A):c.1094A>G (p.Tyr365Cys) rs146265794 0.00009
NM_033305.3(VPS13A):c.2922C>T (p.Pro974=) rs373768055 0.00009
NM_133259.4(LRPPRC):c.*1894C>T rs563480210 0.00009
NM_133259.4(LRPPRC):c.*2245A>G rs758080975 0.00009
NM_133259.4(LRPPRC):c.3430C>T (p.Arg1144Cys) rs760016065 0.00009
NM_133259.4(LRPPRC):c.3586G>A (p.Ala1196Thr) rs142097048 0.00009
NM_170707.4(LMNA):c.-138T>C rs886045359 0.00009
NM_181882.3(PRX):c.3673G>A (p.Val1225Met) rs140880177 0.00009
NM_181882.3(PRX):c.4111C>T (p.Arg1371Trp) rs753339248 0.00009
NM_000081.4(LYST):c.9520G>A (p.Val3174Ile) rs199672291 0.00008
NM_000153.4(GALC):c.*405A>G rs143839879 0.00008
NM_000182.5(HADHA):c.*110G>A rs952439873 0.00008
NM_000217.3(KCNA1):c.*3862C>T rs746524947 0.00008
NM_000286.3(PEX12):c.*38C>T rs756694664 0.00008
NM_000304.4(PMP22):c.*544C>T rs1329536994 0.00008
NM_000304.4(PMP22):c.*985C>T rs886052610 0.00008
NM_000318.3(PEX2):c.*627G>T rs145960090 0.00008
NM_000371.4(TTR):c.*143G>C rs545271394 0.00008
NM_000384.3(APOB):c.2160C>T (p.Tyr720=) rs756184175 0.00008
NM_000384.3(APOB):c.4929G>A (p.Ala1643=) rs200623857 0.00008
NM_000384.3(APOB):c.6656G>A (p.Arg2219His) rs200106845 0.00008
NM_000466.3(PEX1):c.3637-14T>C rs745612436 0.00008
NM_000487.6(ARSA):c.728G>A (p.Arg243His) rs142142638 0.00008
NM_001005373.4(LRSAM1):c.*370C>T rs370358510 0.00008
NM_001122955.4(BSCL2):c.1202G>A (p.Gly401Glu) rs767463971 0.00008
NM_001130823.3(DNMT1):c.*29G>A rs749247799 0.00008
NM_001365536.1(SCN9A):c.213G>A (p.Val71=) rs200240989 0.00008
NM_001370298.3(FGD4):c.461C>G (p.Pro154Arg) rs371407163 0.00008
NM_001376.5(DYNC1H1):c.10992C>T (p.Leu3664=) rs368621706 0.00008
NM_001376.5(DYNC1H1):c.13157A>G (p.Asn4386Ser) rs201575292 0.00008
NM_001376.5(DYNC1H1):c.6030G>A (p.Pro2010=) rs202004938 0.00008
NM_001376.5(DYNC1H1):c.9531G>A (p.Leu3177=) rs531438720 0.00008
NM_001953.5(TYMP):c.1137G>A (p.Glu379=) rs764142194 0.00008
NM_002047.4(GARS1):c.1716G>A (p.Pro572=) rs370608239 0.00008
NM_002047.4(GARS1):c.882-15T>G rs199741850 0.00008
NM_002180.3(IGHMBP2):c.*666G>A rs576058010 0.00008
NM_002180.3(IGHMBP2):c.1236-10C>T rs778515935 0.00008
NM_002180.3(IGHMBP2):c.857G>A (p.Arg286Gln) rs200566598 0.00008
NM_002529.4(NTRK1):c.2057G>A (p.Arg686His) rs754452975 0.00008
NM_002529.4(NTRK1):c.509T>C (p.Val170Ala) rs201503610 0.00008
NM_002778.4(PSAP):c.1456C>T (p.His486Tyr) rs749660716 0.00008
NM_002857.4(PEX19):c.*1145C>T rs75916849 0.00008
NM_002857.4(PEX19):c.*1163T>C rs575199724 0.00008
NM_003172.4(SURF1):c.893C>G (p.Pro298Arg) rs201822068 0.00008
NM_003477.2(PDHX):c.-162C>A rs759318998 0.00008
NM_003560.4(PLA2G6):c.1983G>A (p.Thr661=) rs150572286 0.00008
NM_003560.4(PLA2G6):c.895-11G>A rs371094406 0.00008
NM_004168.4(SDHA):c.1527G>A (p.Ser509=) rs746453879 0.00008
NM_004168.4(SDHA):c.442G>A (p.Ala148Thr) rs375576259 0.00008
NM_004376.6(COX15):c.-133T>C rs566424487 0.00008
NM_004544.4(NDUFA10):c.*1214C>T rs546735567 0.00008
NM_004544.4(NDUFA10):c.*2900G>A rs752124492 0.00008
NM_004551.2(NDUFS3):c.-30C>T rs375483884 0.00008
NM_004589.4(SCO1):c.411G>A (p.Gly137=) rs371690301 0.00008
NM_004589.4(SCO1):c.787A>G (p.Ile263Val) rs111708860 0.00008
NM_004863.4(SPTLC2):c.*542T>C rs758359564 0.00008
NM_005908.4(MANBA):c.2311G>T (p.Val771Phe) rs201779762 0.00008
NM_006158.5(NEFL):c.1212C>T (p.Ser404=) rs60547413 0.00008
NM_006329.4(FBLN5):c.*426C>T rs553193064 0.00008
NM_006329.4(FBLN5):c.1113G>A (p.Thr371=) rs560780691 0.00008
NM_012073.5(CCT5):c.*1239C>G rs886059759 0.00008
NM_012073.5(CCT5):c.*205T>C rs533788803 0.00008
NM_012073.5(CCT5):c.*5A>C rs533404395 0.00008
NM_012073.5(CCT5):c.424C>T (p.Arg142Cys) rs572671693 0.00008
NM_014845.6(FIG4):c.-112G>A rs757848529 0.00008
NM_014845.6(FIG4):c.1940A>G (p.Tyr647Cys) rs150301327 0.00008
NM_015046.7(SETX):c.1221A>G (p.Thr407=) rs377618570 0.00008
NM_015046.7(SETX):c.1374T>G (p.Phe458Leu) rs201441886 0.00008
NM_015046.7(SETX):c.3103A>G (p.Lys1035Glu) rs117229601 0.00008
NM_015046.7(SETX):c.5271A>G (p.Glu1757=) rs200499115 0.00008
NM_018319.4(TDP1):c.-8+15T>C rs767166629 0.00008
NM_020247.5(COQ8A):c.*570T>C rs778729725 0.00008
NM_020631.6(PLEKHG5):c.2427C>T (p.Asp809=) rs369876443 0.00008
NM_020631.6(PLEKHG5):c.2543G>A (p.Arg848Gln) rs761000380 0.00008
NM_021625.5(TRPV4):c.1729G>A (p.Val577Met) rs140535889 0.00008
NM_024577.4(SH3TC2):c.*22208T>C rs756451967 0.00008
NM_024577.4(SH3TC2):c.*2982T>C rs886060180 0.00008
NM_024577.4(SH3TC2):c.*3903A>G rs750071171 0.00008
NM_024577.4(SH3TC2):c.*4576G>T rs996951340 0.00008
NM_024577.4(SH3TC2):c.1105C>T (p.Arg369Cys) rs569974719 0.00008
NM_030962.4(SBF2):c.5231+14C>T rs371184526 0.00008
NM_030962.4(SBF2):c.946C>T (p.Leu316=) rs374841593 0.00008
NM_033305.3(VPS13A):c.3193A>G (p.Ile1065Val) rs143067406 0.00008
NM_033305.3(VPS13A):c.5786A>G (p.Asn1929Ser) rs748876393 0.00008
NM_033305.3(VPS13A):c.9128A>G (p.Asn3043Ser) rs200755494 0.00008
NM_078470.6(COX15):c.665G>A (p.Arg222His) rs377568460 0.00008
NM_133259.4(LRPPRC):c.*996A>G rs572718388 0.00008
NM_170707.4(LMNA):c.471G>A (p.Thr157=) rs150645079 0.00008
NM_181882.3(PRX):c.1369G>A (p.Glu457Lys) rs142064826 0.00008
NM_181882.3(PRX):c.1546C>T (p.Arg516Trp) rs144305922 0.00008
NM_181882.3(PRX):c.3271G>A (p.Ala1091Thr) rs368459753 0.00008
NM_000081.4(LYST):c.3931A>G (p.Met1311Val) rs376718077 0.00007
NM_000108.5(DLD):c.*1505C>T rs1053262850 0.00007
NM_000143.4(FH):c.*211G>C rs1385240800 0.00007
NM_000166.6(GJB1):c.-128G>A rs1057515983 0.00007
NM_000217.3(KCNA1):c.*829A>G rs777685914 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_000466.3(PEX1):c.*428A>G rs769772779 0.00007
NM_000466.3(PEX1):c.1369A>G (p.Ile457Val) rs561561515 0.00007
NM_000487.6(ARSA):c.1334G>T (p.Gly445Val) rs540762357 0.00007
NM_000530.8(MPZ):c.*1020G>A rs886045472 0.00007
NM_000530.8(MPZ):c.*102C>T rs774748921 0.00007
NM_000784.4(CYP27A1):c.1114G>A (p.Gly372Arg) rs369969903 0.00007
NM_000784.4(CYP27A1):c.702C>T (p.Pro234=) rs371636461 0.00007
NM_001005361.3(DNM2):c.1377C>T (p.Ile459=) rs369345296 0.00007
NM_001042472.3(ABHD12):c.543-13T>C rs575339393 0.00007
NM_001079866.2(BCS1L):c.201C>T (p.Leu67=) rs142540289 0.00007
NM_001113491.2(SEPTIN9):c.*718C>G rs370900865 0.00007
NM_001113491.2(SEPTIN9):c.277G>T (p.Val93Leu) rs774560543 0.00007
NM_001130823.3(DNMT1):c.3936C>T (p.Phe1312=) rs367637414 0.00007
NM_001365536.1(SCN9A):c.*1383G>T rs896976419 0.00007
NM_001365536.1(SCN9A):c.3944T>C (p.Ile1315Thr) rs202235611 0.00007
NM_001365951.3(KIF1B):c.*3644dup rs775451005 0.00007
NM_001370298.3(FGD4):c.*1356T>G rs886049262 0.00007
NM_001370298.3(FGD4):c.*4977G>C rs575914495 0.00007
NM_001370298.3(FGD4):c.167-62000T>C rs886049252 0.00007
NM_001370658.1(BTD):c.-65G>T rs199516128 0.00007
NM_001376.5(DYNC1H1):c.10506C>A (p.Thr3502=) rs548760128 0.00007
NM_001376.5(DYNC1H1):c.2376C>T (p.Cys792=) rs35092963 0.00007
NM_001540.5(HSPB1):c.*116C>T rs368381742 0.00007
NM_001540.5(HSPB1):c.399C>T (p.Tyr133=) rs140791936 0.00007
NM_001540.5(HSPB1):c.501C>T (p.Ala167=) rs529095936 0.00007
NM_001723.7(DST):c.4397A>G (p.Lys1466Arg) rs144279221 0.00007
NM_001953.5(TYMP):c.-84T>C rs560027665 0.00007
NM_001953.5(TYMP):c.517-15G>A rs372690172 0.00007
NM_002047.4(GARS1):c.562G>A (p.Val188Ile) rs376772628 0.00007
NM_002180.3(IGHMBP2):c.*754G>A rs374679092 0.00007
NM_002496.4(NDUFS8):c.502-10C>T rs369961682 0.00007
NM_002529.4(NTRK1):c.585G>A (p.Thr195=) rs182531655 0.00007
NM_002529.4(NTRK1):c.658C>T (p.Arg220Trp) rs202030811 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_003172.4(SURF1):c.321C>T (p.Ala107=) rs141425824 0.00007
NM_003477.2(PDHX):c.-155G>A rs886048246 0.00007
NM_003477.3(PDHX):c.*259G>T rs771515806 0.00007
NM_003560.4(PLA2G6):c.1614C>T (p.Arg538=) rs373930150 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_003680.4(YARS1):c.*399G>A rs890588915 0.00007
NM_003680.4(YARS1):c.1275C>T (p.Asn425=) rs778718842 0.00007
NM_004082.5(DCTN1):c.2278A>G (p.Met760Val) rs754780894 0.00007
NM_004544.4(NDUFA10):c.*1486C>T rs746931112 0.00007
NM_004551.3(NDUFS3):c.747G>A (p.Pro249=) rs3740654 0.00007
NM_004589.4(SCO1):c.689C>T (p.Thr230Met) rs141066877 0.00007
NM_004637.6(RAB7A):c.*165A>T rs886057942 0.00007
NM_004813.4(PEX16):c.360-7G>A rs202161790 0.00007
NM_004863.4(SPTLC2):c.*419C>T rs897879528 0.00007
NM_004863.4(SPTLC2):c.*838G>A rs760436119 0.00007
NM_006096.4(NDRG1):c.*402C>T rs551081194 0.00007
NM_006096.4(NDRG1):c.1101C>T (p.Ser367=) rs201959970 0.00007
NM_006308.3(HSPB3):c.*10G>A rs200960902 0.00007
NM_006329.4(FBLN5):c.-413C>T rs886050892 0.00007
NM_012073.5(CCT5):c.-48C>T rs574425461 0.00007
NM_014845.6(FIG4):c.2096G>A (p.Arg699His) rs750091928 0.00007
NM_015046.7(SETX):c.2469C>G (p.Phe823Leu) rs141163823 0.00007
NM_015046.7(SETX):c.4204A>T (p.Thr1402Ser) rs150421712 0.00007
NM_016156.6(MTMR2):c.894A>T (p.Glu298Asp) rs200898934 0.00007
NM_020631.6(PLEKHG5):c.1883G>A (p.Arg628Lys) rs144245744 0.00007
NM_020631.6(PLEKHG5):c.439+12C>G rs778853521 0.00007
NM_021625.5(TRPV4):c.2320C>T (p.Arg774Cys) rs145102919 0.00007
NM_021625.5(TRPV4):c.2517C>T (p.Asp839=) rs546957932 0.00007
NM_024407.5(NDUFS7):c.525C>T (p.Pro175=) rs757488156 0.00007
NM_024577.4(SH3TC2):c.*11621G>A rs886060128 0.00007
NM_024577.4(SH3TC2):c.*15062G>A rs886060115 0.00007
NM_024577.4(SH3TC2):c.*2118G>A rs115163989 0.00007
NM_024577.4(SH3TC2):c.*4446G>C rs186152591 0.00007
NM_024577.4(SH3TC2):c.*4947G>A rs1012023269 0.00007
NM_024577.4(SH3TC2):c.1507G>A (p.Glu503Lys) rs78346510 0.00007
NM_033305.3(VPS13A):c.1999A>C (p.Thr667Pro) rs148227344 0.00007
NM_033305.3(VPS13A):c.3706C>T (p.Leu1236=) rs189138644 0.00007
NM_033305.3(VPS13A):c.6074A>G (p.Asn2025Ser) rs371055567 0.00007
NM_078470.6(COX15):c.*3670G>A rs886046600 0.00007
NM_174889.5(NDUFAF2):c.131A>C (p.Gln44Pro) rs775605330 0.00007
NM_181882.3(PRX):c.4157C>A (p.Pro1386His) rs372582520 0.00007
NM_181882.3(PRX):c.922A>G (p.Thr308Ala) rs753330520 0.00007
NM_198252.3(GSN):c.126C>T (p.Asp42=) rs200027070 0.00007
NM_198252.3(GSN):c.547C>T (p.Arg183Trp) rs371175865 0.00007
NM_000081.4(LYST):c.3030A>G (p.Gly1010=) rs751511204 0.00006
NM_000081.4(LYST):c.3834G>A (p.Leu1278=) rs148542548 0.00006
NM_000081.4(LYST):c.5635-4A>G rs754201076 0.00006
NM_000081.4(LYST):c.7862T>C (p.Met2621Thr) rs368500877 0.00006
NM_000081.4(LYST):c.7911G>A (p.Thr2637=) rs140229368 0.00006
NM_000143.4(FH):c.12A>G (p.Ala4=) rs201277370 0.00006
NM_000153.4(GALC):c.*1458T>C rs757918900 0.00006
NM_000153.4(GALC):c.120C>T (p.Gly40=) rs532800656 0.00006
NM_000153.4(GALC):c.1731C>T (p.Phe577=) rs201560122 0.00006
NM_000153.4(GALC):c.18C>G (p.Leu6=) rs886038260 0.00006
NM_000153.4(GALC):c.53C>T (p.Thr18Ile) rs755139799 0.00006
NM_000158.4(GBE1):c.*460C>T rs771301034 0.00006
NM_000158.4(GBE1):c.*558T>C rs886058899 0.00006
NM_000158.4(GBE1):c.1406A>G (p.Tyr469Cys) rs760661724 0.00006
NM_000158.4(GBE1):c.2035C>T (p.Arg679Cys) rs202158511 0.00006
NM_000182.5(HADHA):c.*403C>T rs146210168 0.00006
NM_000217.3(KCNA1):c.*3142A>G rs923945668 0.00006
NM_000274.4(OAT):c.*35C>T rs750628344 0.00006
NM_000284.4(PDHA1):c.*1347C>T rs1241045421 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.*115A>G rs41288967 0.00006
NM_000288.4(PEX7):c.340-10A>G rs267608255 0.00006
NM_000304.4(PMP22):c.*26T>C rs200563670 0.00006
NM_000304.4(PMP22):c.*890C>T rs546778557 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_000370.3(TTPA):c.*934C>T rs776683493 0.00006
NM_000371.4(TTR):c.355G>A (p.Asp119Asn) rs76410435 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_000487.6(ARSA):c.225-5C>T rs192013394 0.00006
NM_000487.6(ARSA):c.918G>A (p.Thr306=) rs370250328 0.00006
NM_000521.4(HEXB):c.1269A>G (p.Val423=) rs746407358 0.00006
NM_000784.4(CYP27A1):c.536A>G (p.Asn179Ser) rs145080072 0.00006
NM_000784.4(CYP27A1):c.712G>A (p.Val238Met) rs199691576 0.00006
NM_000925.4(PDHB):c.*173C>T rs546485141 0.00006
NM_000925.4(PDHB):c.937C>G (p.Pro313Ala) rs201105914 0.00006
NM_001005361.3(DNM2):c.*373G>A rs906210543 0.00006
NM_001005361.3(DNM2):c.1558-7C>A rs184310103 0.00006
NM_001005361.3(DNM2):c.450A>G (p.Pro150=) rs766121627 0.00006
NM_001005373.4(LRSAM1):c.*238G>A rs886063459 0.00006
NM_001034850.3(RETREG1):c.*1235T>C rs372275936 0.00006
NM_001034850.3(RETREG1):c.*757G>A rs3804255 0.00006
NM_001034850.3(RETREG1):c.796C>T (p.Arg266Cys) rs368759467 0.00006
NM_001042472.3(ABHD12):c.802G>T (p.Ala268Ser) rs186440319 0.00006
NM_001113491.2(SEPTIN9):c.*1724G>A rs886053498 0.00006
NM_001113491.2(SEPTIN9):c.*959G>A rs911601031 0.00006
NM_001113491.2(SEPTIN9):c.76+12716G>A rs1376331809 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.*566T>C rs541332240 0.00006
NM_001130823.3(DNMT1):c.*211G>C rs772999851 0.00006
NM_001130823.3(DNMT1):c.1066G>A (p.Ala356Thr) rs529074384 0.00006
NM_001130823.3(DNMT1):c.1861A>C (p.Arg621=) rs144567470 0.00006
NM_001130823.3(DNMT1):c.3413C>G (p.Ser1138Cys) rs201308454 0.00006
NM_001130823.3(DNMT1):c.3669C>T (p.Arg1223=) rs147755768 0.00006
NM_001130823.3(DNMT1):c.3696C>T (p.Asp1232=) rs145657360 0.00006
NM_001136472.2(LITAF):c.*1879A>G rs760630375 0.00006
NM_001136472.2(LITAF):c.147G>A (p.Thr49=) rs145659732 0.00006
NM_001136472.2(LITAF):c.310G>A (p.Val104Met) rs373445989 0.00006
NM_001195248.2(APTX):c.*605G>A rs545625482 0.00006
NM_001195248.2(APTX):c.80T>C (p.Ile27Thr) rs117041645 0.00006
NM_001303.4(COX10):c.-24G>A rs201257809 0.00006
NM_001303.4(COX10):c.260C>T (p.Thr87Ile) rs144000161 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_001365536.1(SCN9A):c.*3053G>A rs199656729 0.00006
NM_001365536.1(SCN9A):c.2461G>A (p.Val821Met) rs41268671 0.00006
NM_001365536.1(SCN9A):c.29A>G (p.Gln10Arg) rs267607030 0.00006
NM_001365536.1(SCN9A):c.5379G>A (p.Ala1793=) rs201875421 0.00006
NM_001365536.1(SCN9A):c.5945A>T (p.Asp1982Val) rs199822303 0.00006
NM_001370298.3(FGD4):c.*2648G>A rs1041987634 0.00006
NM_001370298.3(FGD4):c.*3940G>A rs549337235 0.00006
NM_001370298.3(FGD4):c.*5321G>A rs1013226199 0.00006
NM_001370658.1(BTD):c.1225G>A (p.Glu409Lys) rs770633850 0.00006
NM_001374736.1(DST):c.1779-350C>T rs182565183 0.00006
NM_001374736.1(DST):c.4930-620A>C rs886061642 0.00006
NM_001376.5(DYNC1H1):c.12685-3C>T rs149824412 0.00006
NM_001376.5(DYNC1H1):c.13675G>A (p.Gly4559Arg) rs761881469 0.00006
NM_001376.5(DYNC1H1):c.9155A>G (p.Lys3052Arg) rs774806132 0.00006
NM_001386140.1(MTTP):c.*1118C>T rs144013236 0.00006
NM_001386140.1(MTTP):c.393+11G>A rs367982075 0.00006
NM_001386140.1(MTTP):c.915G>A (p.Ser305=) rs199716549 0.00006
NM_001540.5(HSPB1):c.210G>A (p.Ala70=) rs749963653 0.00006
NM_001723.7(DST):c.3715C>T (p.Arg1239Cys) rs371231287 0.00006
NM_001723.7(DST):c.3956C>A (p.Ala1319Glu) rs142302277 0.00006
NM_001723.7(DST):c.3957A>C (p.Ala1319=) rs543767625 0.00006
NM_001953.5(TYMP):c.193A>G (p.Ser65Gly) rs146922557 0.00006
NM_001953.5(TYMP):c.646+8G>A rs200818286 0.00006
NM_002047.4(GARS1):c.-36C>T rs531483802 0.00006
NM_002047.4(GARS1):c.1478A>G (p.Asn493Ser) rs538571144 0.00006
NM_002047.4(GARS1):c.1852G>A (p.Val618Ile) rs369894731 0.00006
NM_002047.4(GARS1):c.2212G>A (p.Glu738Lys) rs181251337 0.00006
NM_002047.4(GARS1):c.764C>T (p.Ala255Val) rs765478968 0.00006
NM_002180.3(IGHMBP2):c.2139C>T (p.Asn713=) rs199879444 0.00006
NM_002180.3(IGHMBP2):c.2286C>T (p.Ala762=) rs149684358 0.00006
NM_002180.3(IGHMBP2):c.2674A>G (p.Lys892Glu) rs201970407 0.00006
NM_002180.3(IGHMBP2):c.2753G>A (p.Arg918His) rs368584364 0.00006
NM_002496.4(NDUFS8):c.597C>T (p.Ile199=) rs1804688 0.00006
NM_002496.4(NDUFS8):c.598G>A (p.Ala200Thr) rs578145610 0.00006
NM_002506.3(NGF):c.335C>G (p.Pro112Arg) rs147763877 0.00006
NM_002506.3(NGF):c.552C>T (p.Pro184=) rs532714783 0.00006
NM_002529.4(NTRK1):c.1522C>A (p.Arg508=) rs200575096 0.00006
NM_002529.4(NTRK1):c.575-15G>A rs762788551 0.00006
NM_002529.4(NTRK1):c.850+11G>A rs372293237 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.814_815del (p.Leu272fs) rs61752093 0.00006
NM_002617.4(PEX10):c.821C>T (p.Thr274Ile) rs199683357 0.00006
NM_002778.4(PSAP):c.*1008C>T rs537171961 0.00006
NM_002778.4(PSAP):c.*276G>A rs547409137 0.00006
NM_002778.4(PSAP):c.227T>A (p.Met76Lys) rs377024801 0.00006
NM_002778.4(PSAP):c.249+6C>T rs774663731 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_003172.4(SURF1):c.352A>T (p.Arg118Trp) rs201492662 0.00006
NM_003477.2(PDHX):c.-342A>G rs567329509 0.00006
NM_003560.4(PLA2G6):c.-129C>T rs886057504 0.00006
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) rs121908680 0.00006
NM_003680.4(YARS1):c.*369G>A rs879511403 0.00006
NM_003680.4(YARS1):c.946G>A (p.Ala316Thr) rs138454151 0.00006
NM_004082.5(DCTN1):c.2002C>T (p.His668Tyr) rs764443534 0.00006
NM_004168.4(SDHA):c.*102G>A rs1009017730 0.00006
NM_004376.5(COX15):c.*3470G>C rs988381164 0.00006
NM_004376.6(COX15):c.-586C>T rs186438310 0.00006
NM_004544.4(NDUFA10):c.*3205G>A rs886055811 0.00006
NM_004544.4(NDUFA10):c.*361A>G rs778261754 0.00006
NM_004551.3(NDUFS3):c.783T>C (p.Pro261=) rs117981655 0.00006
NM_004551.3(NDUFS3):c.79C>T (p.Pro27Ser) rs368907187 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_004589.3(SCO1):c.-49C>T rs778522503 0.00006
NM_004589.4(SCO1):c.*594A>G rs183020275 0.00006
NM_004589.4(SCO1):c.15C>T (p.Val5=) rs780334801 0.00006
NM_004637.6(RAB7A):c.*1029A>G rs776759455 0.00006
NM_004637.6(RAB7A):c.*1141C>T rs192329045 0.00006
NM_004813.4(PEX16):c.*341C>T rs559300237 0.00006
NM_004813.4(PEX16):c.*53C>G rs369974509 0.00006
NM_004863.4(SPTLC2):c.*100G>A rs535135686 0.00006
NM_004863.4(SPTLC2):c.*1153T>A rs749346501 0.00006
NM_004863.4(SPTLC2):c.*2622A>C rs762906175 0.00006
NM_004863.4(SPTLC2):c.*3785G>C rs996810849 0.00006
NM_004863.4(SPTLC2):c.*4948A>C rs886050832 0.00006
NM_004863.4(SPTLC2):c.*5852A>G rs753761374 0.00006
NM_004863.4(SPTLC2):c.-37C>T rs762618185 0.00006
NM_005006.7(NDUFS1):c.1969G>A (p.Asp657Asn) rs769276632 0.00006
NM_006096.4(NDRG1):c.270C>T (p.Ala90=) rs200328537 0.00006
NM_006158.5(NEFL):c.*1101G>A rs527471303 0.00006
NM_006415.4(SPTLC1):c.*1093G>A rs1057515685 0.00006
NM_006415.4(SPTLC1):c.1254+10C>T rs200704785 0.00006
NM_007103.4(NDUFV1):c.1079C>T (p.Ser360Leu) rs372208500 0.00006
NM_007103.4(NDUFV1):c.1102G>A (p.Ala368Thr) rs376958800 0.00006
NM_012073.5(CCT5):c.*1257A>G rs572016113 0.00006
NM_012073.5(CCT5):c.1070G>A (p.Gly357Asp) rs143444882 0.00006
NM_014365.2(HSPB8):c.-419A>T rs1011802078 0.00006
NM_014845.6(FIG4):c.658A>G (p.Ile220Val) rs565096937 0.00006
NM_014874.3(MFN2):c.-468G>A rs973376897 0.00006
NM_015046.7(SETX):c.*1523A>G rs758582946 0.00006
NM_015046.7(SETX):c.*1534G>A rs886063548 0.00006
NM_015046.7(SETX):c.*2610T>G rs530469492 0.00006
NM_015046.7(SETX):c.1880T>C (p.Met627Thr) rs199707503 0.00006
NM_015046.7(SETX):c.2717C>T (p.Ser906Leu) rs148375192 0.00006
NM_015046.7(SETX):c.6161G>A (p.Ser2054Asn) rs200778360 0.00006
NM_015046.7(SETX):c.6675C>T (p.Tyr2225=) rs200382898 0.00006
NM_015046.7(SETX):c.768G>T (p.Leu256=) rs759468738 0.00006
NM_015046.7(SETX):c.7874C>T (p.Pro2625Leu) rs553413088 0.00006
NM_016156.6(MTMR2):c.1431G>A (p.Ser477=) rs200285624 0.00006
NM_018319.4(TDP1):c.*904C>T rs886050884 0.00006
NM_018319.4(TDP1):c.789C>T (p.His263=) rs562317662 0.00006
NM_018972.2(GDAP1):c.*2675C>T rs957273627 0.00006
NM_018972.4(GDAP1):c.*1905A>G rs185710169 0.00006
NM_018972.4(GDAP1):c.1039A>G (p.Met347Val) rs112786851 0.00006
NM_018979.4(WNK1):c.2652G>A (p.Ala884=) rs142528714 0.00006
NM_018979.4(WNK1):c.5734A>C (p.Ile1912Leu) rs201995891 0.00006
NM_020631.4(PLEKHG5):c.*1332C>A rs538419041 0.00006
NM_020631.4(PLEKHG5):c.*1333C>T rs1157083758 0.00006
NM_020631.6(PLEKHG5):c.*304C>T rs549168459 0.00006
NM_020631.6(PLEKHG5):c.1066C>T (p.Arg356Trp) rs764053619 0.00006
NM_020631.6(PLEKHG5):c.882C>T (p.Phe294=) rs370572859 0.00006
NM_021625.5(TRPV4):c.*405G>A rs886048937 0.00006
NM_021625.5(TRPV4):c.1139C>T (p.Thr380Met) rs764949536 0.00006
NM_021625.5(TRPV4):c.2484C>T (p.Arg828=) rs142656819 0.00006
NM_021625.5(TRPV4):c.2605G>A (p.Ala869Thr) rs138396764 0.00006
NM_021625.5(TRPV4):c.958C>T (p.Arg320Ter) rs142902080 0.00006
NM_021625.5(TRPV4):c.963C>A (p.Gly321=) rs148534854 0.00006
NM_021830.5(TWNK):c.-644A>T rs886046623 0.00006
NM_021830.5(TWNK):c.1975G>A (p.Ala659Thr) rs370814108 0.00006
NM_022041.4(GAN):c.*1839G>A rs375907932 0.00006
NM_022124.6(CDH23):c.9291G>T (p.Lys3097Asn) rs368441850 0.00006
NM_024577.4(SH3TC2):c.*11357G>A rs147502432 0.00006
NM_024577.4(SH3TC2):c.*11680C>T rs893213252 0.00006
NM_024577.4(SH3TC2):c.*1310G>A rs886060184 0.00006
NM_024577.4(SH3TC2):c.*21371A>G rs768014940 0.00006
NM_024577.4(SH3TC2):c.*2729T>C rs555581492 0.00006
NM_024577.4(SH3TC2):c.*341A>G rs868833114 0.00006
NM_024577.4(SH3TC2):c.*5304G>A rs886060171 0.00006
NM_024577.4(SH3TC2):c.*7189C>A rs886060163 0.00006
NM_024577.4(SH3TC2):c.*7269A>G rs763490898 0.00006
NM_024577.4(SH3TC2):c.*7452G>A rs761137746 0.00006
NM_024577.4(SH3TC2):c.*8521C>A rs886060152 0.00006
NM_024577.4(SH3TC2):c.1721A>G (p.Asn574Ser) rs201256776 0.00006
NM_024577.4(SH3TC2):c.1814G>A (p.Arg605His) rs186864272 0.00006
NM_024577.4(SH3TC2):c.285C>T (p.Leu95=) rs574669908 0.00006
NM_030962.4(SBF2):c.*1495T>C rs929359339 0.00006
NM_030962.4(SBF2):c.*305A>G rs905556733 0.00006
NM_030962.4(SBF2):c.2424T>A (p.Asn808Lys) rs146868794 0.00006
NM_030962.4(SBF2):c.2598G>A (p.Pro866=) rs376372877 0.00006
NM_030962.4(SBF2):c.3006G>T (p.Lys1002Asn) rs572884226 0.00006
NM_033305.3(VPS13A):c.3424A>G (p.Met1142Val) rs750174637 0.00006
NM_033305.3(VPS13A):c.7715A>G (p.Lys2572Arg) rs202148808 0.00006
NM_033305.3(VPS13A):c.8212-15G>A rs771085531 0.00006
NM_033305.3(VPS13A):c.8766C>T (p.Ser2922=) rs201517936 0.00006
NM_133259.4(LRPPRC):c.*1372G>A rs750310194 0.00006
NM_133259.4(LRPPRC):c.*1587C>T rs886056046 0.00006
NM_133259.4(LRPPRC):c.*1653G>A rs886056045 0.00006
NM_133259.4(LRPPRC):c.*485C>T rs886056051 0.00006
NM_133259.4(LRPPRC):c.*518A>T rs138559252 0.00006
NM_133259.4(LRPPRC):c.*667C>T rs533028399 0.00006
NM_133259.4(LRPPRC):c.-19C>G rs574328970 0.00006
NM_133259.4(LRPPRC):c.1009+15A>T rs572849791 0.00006
NM_133259.4(LRPPRC):c.130C>G (p.Arg44Gly) rs886056062 0.00006
NM_133259.4(LRPPRC):c.3666C>T (p.Phe1222=) rs145105621 0.00006
NM_133259.4(LRPPRC):c.803A>C (p.Asp268Ala) rs143290138 0.00006
NM_170707.4(LMNA):c.1149G>A (p.Glu383=) rs267607603 0.00006
NM_174889.4(NDUFAF2):c.-66G>C rs376045901 0.00006
NM_174936.4(PCSK9):c.1976G>T (p.Arg659Leu) rs780214893 0.00006
NM_181882.3(PRX):c.*45C>T rs200778472 0.00006
NM_181882.3(PRX):c.1500A>G (p.Ser500=) rs777104457 0.00006
NM_181882.3(PRX):c.3799G>A (p.Gly1267Arg) rs542711361 0.00006
NM_181882.3(PRX):c.4307G>A (p.Arg1436Gln) rs368827070 0.00006
NM_181882.3(PRX):c.597C>T (p.Ala199=) rs144157275 0.00006
NM_181882.3(PRX):c.992C>T (p.Pro331Leu) rs566629777 0.00006
NM_198252.3(GSN):c.1191+14G>A rs377308627 0.00006
NM_198252.3(GSN):c.427G>A (p.Gly143Arg) rs750132751 0.00006
NM_000143.4(FH):c.63C>T (p.Ala21=) rs555404867 0.00005
NM_000153.4(GALC):c.195+15G>A rs748140458 0.00005
NM_000158.4(GBE1):c.1392C>T (p.Leu464=) rs563241317 0.00005
NM_000182.5(HADHA):c.1947T>A (p.Asn649Lys) rs777153382 0.00005
NM_000217.3(KCNA1):c.*2000C>T rs886049522 0.00005
NM_000274.4(OAT):c.1250C>T (p.Pro417Leu) rs121965044 0.00005
NM_000284.4(PDHA1):c.660C>T (p.Phe220=) rs745607005 0.00005
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_000370.3(TTPA):c.*1716T>C rs1029598636 0.00005
NM_000384.3(APOB):c.5913G>A (p.Leu1971=) rs374251542 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_000521.4(HEXB):c.1035A>C (p.Pro345=) rs202227927 0.00005
NM_000530.8(MPZ):c.*681A>T rs886045474 0.00005
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg) rs202176679 0.00005
NM_000925.4(PDHB):c.448G>T (p.Ala150Ser) rs139242990 0.00005
NM_001005373.4(LRSAM1):c.-189+47C>T rs886063450 0.00005
NM_001005373.4(LRSAM1):c.458G>A (p.Arg153His) rs368689811 0.00005
NM_001005373.4(LRSAM1):c.619+13C>T rs148704769 0.00005
NM_001034850.3(RETREG1):c.*1337A>C rs894112531 0.00005
NM_001042472.3(ABHD12):c.858A>C (p.Pro286=) rs372807311 0.00005
NM_001079866.2(BCS1L):c.-85G>A rs938140522 0.00005
NM_001079866.2(BCS1L):c.171C>T (p.Asp57=) rs756932413 0.00005
NM_001113491.2(SEPTIN9):c.600C>T (p.Thr200=) rs559745979 0.00005
NM_001113491.2(SEPTIN9):c.76+12954C>T rs563964076 0.00005
NM_001122955.4(BSCL2):c.1201G>A (p.Gly401Arg) rs138964424 0.00005
NM_001127649.3(PEX26):c.*1618G>C rs1358815707 0.00005
NM_001130823.3(DNMT1):c.1932C>T (p.Phe644=) rs370444117 0.00005
NM_001130823.3(DNMT1):c.2019+15G>C rs370849760 0.00005
NM_001130823.3(DNMT1):c.3351C>T (p.Asn1117=) rs534263445 0.00005
NM_001130823.3(DNMT1):c.4894G>C (p.Asp1632His) rs147118268 0.00005
NM_001136472.2(LITAF):c.*882G>A rs535657236 0.00005
NM_001136472.2(LITAF):c.477G>A (p.Lys159=) rs371453151 0.00005
NM_001303.4(COX10):c.173G>A (p.Arg58His) rs772223730 0.00005
NM_001351132.2(PEX5):c.967-15G>A rs201341037 0.00005
NM_001365536.1(SCN9A):c.1838C>T (p.Pro613Leu) rs200671761 0.00005
NM_001365536.1(SCN9A):c.3125C>T (p.Thr1042Ile) rs757989638 0.00005
NM_001365951.3(KIF1B):c.*2032T>A rs190108168 0.00005
NM_001370658.1(BTD):c.48C>T (p.Tyr16=) rs201823743 0.00005
NM_001370658.1(BTD):c.847C>T (p.His283Tyr) rs144084212 0.00005
NM_001376.5(DYNC1H1):c.11913C>G (p.Pro3971=) rs201174299 0.00005
NM_001376.5(DYNC1H1):c.12453A>T (p.Pro4151=) rs200375220 0.00005
NM_001376.5(DYNC1H1):c.2328G>A (p.Pro776=) rs144921184 0.00005
NM_001540.5(HSPB1):c.-4C>T rs372833436 0.00005
NM_001605.3(AARS1):c.1846C>T (p.Arg616Cys) rs372221218 0.00005
NM_001723.7(DST):c.5346T>A (p.Leu1782=) rs769786699 0.00005
NM_001953.5(TYMP):c.866A>C (p.Glu289Ala) rs121913036 0.00005
NM_002496.4(NDUFS8):c.199+5G>A rs373522607 0.00005
NM_002496.4(NDUFS8):c.5G>A (p.Arg2His) rs139334907 0.00005
NM_002529.4(NTRK1):c.*96G>A rs886045374 0.00005
NM_002529.4(NTRK1):c.357C>T (p.Arg119=) rs149960336 0.00005
NM_002529.4(NTRK1):c.375C>T (p.Asn125=) rs757803799 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_002778.4(PSAP):c.*596A>G rs965039324 0.00005
NM_002778.4(PSAP):c.-22G>C rs569841336 0.00005
NM_002778.4(PSAP):c.1000A>T (p.Thr334Ser) rs749663645 0.00005
NM_002778.4(PSAP):c.380G>A (p.Arg127His) rs886047151 0.00005
NM_002857.4(PEX19):c.*1103C>T rs561417695 0.00005
NM_003172.4(SURF1):c.322G>A (p.Asp108Asn) rs863224226 0.00005
NM_003172.4(SURF1):c.507C>T (p.Thr169=) rs782614599 0.00005
NM_003477.3(PDHX):c.242-4G>A rs199583315 0.00005
NM_003477.3(PDHX):c.402A>G (p.Glu134=) rs768560478 0.00005
NM_004082.5(DCTN1):c.2559C>T (p.Ala853=) rs770872113 0.00005
NM_004082.5(DCTN1):c.60G>A (p.Ala20=) rs150204862 0.00005
NM_004544.4(NDUFA10):c.354C>T (p.Tyr118=) rs118106981 0.00005
NM_004544.4(NDUFA10):c.41C>G (p.Ser14Cys) rs928084265 0.00005
NM_004589.4(SCO1):c.640G>A (p.Ala214Thr) rs145764824 0.00005
NM_005908.4(MANBA):c.2438A>T (p.Asp813Val) rs367692761 0.00005
NM_006329.4(FBLN5):c.901C>A (p.Leu301Met) rs377360782 0.00005
NM_012073.5(CCT5):c.531-13G>T rs370943521 0.00005
NM_014365.3(HSPB8):c.*803T>C rs886049029 0.00005
NM_014845.6(FIG4):c.109C>T (p.Arg37Cys) rs368625871 0.00005
NM_014845.6(FIG4):c.2096+3A>G rs374223402 0.00005
NM_014845.6(FIG4):c.2200G>A (p.Glu734Lys) rs372846619 0.00005
NM_014874.3(MFN2):c.-328T>A rs886045217 0.00005
NM_014874.4(MFN2):c.*1295G>A rs763783578 0.00005
NM_014874.4(MFN2):c.179C>T (p.Thr60Met) rs138345244 0.00005
NM_015046.7(SETX):c.1015A>C (p.Lys339Gln) rs768437607 0.00005
NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr) rs373375060 0.00005
NM_015046.7(SETX):c.7406T>C (p.Leu2469Pro) rs151304085 0.00005
NM_015600.5(ABHD12):c.1157+2023C>T rs527626109 0.00005
NM_016156.6(MTMR2):c.1551C>T (p.Phe517=) rs775961979 0.00005
NM_016156.6(MTMR2):c.80G>C (p.Ser27Thr) rs879253940 0.00005
NM_018972.4(GDAP1):c.*1301A>G rs779268019 0.00005
NM_018972.4(GDAP1):c.*1416G>A rs575631045 0.00005
NM_020247.5(COQ8A):c.1395C>T (p.Asn465=) rs567318021 0.00005
NM_020247.5(COQ8A):c.1809C>T (p.Pro603=) rs774789966 0.00005
NM_020247.5(COQ8A):c.467T>C (p.Met156Thr) rs147812454 0.00005
NM_020247.5(COQ8A):c.798G>A (p.Thr266=) rs750042754 0.00005
NM_021625.5(TRPV4):c.*411A>G rs924343915 0.00005
NM_022041.4(GAN):c.*2019A>G rs886052347 0.00005
NM_022041.4(GAN):c.*810C>A rs886052342 0.00005
NM_024577.4(SH3TC2):c.*10014T>A rs56162234 0.00005
NM_024577.4(SH3TC2):c.*12356A>T rs553936023 0.00005
NM_024577.4(SH3TC2):c.*13923T>C rs534282709 0.00005
NM_024577.4(SH3TC2):c.*16562G>T rs369963209 0.00005
NM_024577.4(SH3TC2):c.*17192C>T rs886060104 0.00005
NM_024577.4(SH3TC2):c.*3993G>C rs138512171 0.00005
NM_024577.4(SH3TC2):c.*7254A>T rs1054000517 0.00005
NM_024577.4(SH3TC2):c.*8748G>A rs190904760 0.00005
NM_030962.4(SBF2):c.4563A>T (p.Leu1521Phe) rs148988271 0.00005
NM_033305.3(VPS13A):c.1621C>T (p.His541Tyr) rs370950513 0.00005
NM_033305.3(VPS13A):c.2964+5G>A rs139516538 0.00005
NM_033305.3(VPS13A):c.755-7T>C rs377234046 0.00005
NM_033305.3(VPS13A):c.963G>A (p.Val321=) rs184828562 0.00005
NM_133259.4(LRPPRC):c.1678-7T>C rs201370020 0.00005
NM_170707.4(LMNA):c.1488G>A (p.Thr496=) rs375516745 0.00005
NM_174889.5(NDUFAF2):c.196G>C (p.Asp66His) rs769579395 0.00005
NM_181882.3(PRX):c.237C>T (p.Asp79=) rs376174896 0.00005
NM_181882.3(PRX):c.4376C>T (p.Ala1459Val) rs373051724 0.00005
NM_181882.3(PRX):c.683G>A (p.Arg228His) rs562108874 0.00005
NM_198252.3(GSN):c.1423G>T (p.Val475Leu) rs766945413 0.00005
NM_000081.4(LYST):c.110C>T (p.Thr37Met) rs375106444 0.00004
NM_000081.4(LYST):c.11354G>A (p.Arg3785His) rs370173269 0.00004
NM_000081.4(LYST):c.4705A>C (p.Asn1569His) rs767687843 0.00004
NM_000108.5(DLD):c.*1876G>A rs142001971 0.00004
NM_000143.4(FH):c.1421C>G (p.Thr474Arg) rs369802820 0.00004
NM_000143.4(FH):c.1482A>G (p.Ala494=) rs201559643 0.00004
NM_000143.4(FH):c.346A>T (p.Ile116Phe) rs201532589 0.00004
NM_000143.4(FH):c.917T>C (p.Val306Ala) rs147991516 0.00004
NM_000153.4(GALC):c.1619C>T (p.Thr540Ile) rs557464603 0.00004
NM_000153.4(GALC):c.28T>C (p.Trp10Arg) rs767913083 0.00004
NM_000158.4(GBE1):c.*598G>C rs886058898 0.00004
NM_000158.4(GBE1):c.1825G>A (p.Glu609Lys) rs772802187 0.00004
NM_000158.4(GBE1):c.23C>T (p.Ala8Val) rs759518868 0.00004
NM_000158.4(GBE1):c.760A>G (p.Thr254Ala) rs770427750 0.00004
NM_000182.5(HADHA):c.1788G>A (p.Ala596=) rs190409957 0.00004
NM_000182.5(HADHA):c.585T>A (p.Pro195=) rs202034466 0.00004
NM_000182.5(HADHA):c.858G>A (p.Val286=) rs373864418 0.00004
NM_000217.3(KCNA1):c.*1320C>A rs544323143 0.00004
NM_000217.3(KCNA1):c.*2104C>T rs901182494 0.00004
NM_000217.3(KCNA1):c.*2987G>A rs547570693 0.00004
NM_000217.3(KCNA1):c.*5274A>G rs886049541 0.00004
NM_000217.3(KCNA1):c.*965A>T rs886049518 0.00004
NM_000217.3(KCNA1):c.-849T>A rs1337171000 0.00004
NM_000253.4(MTTP):c.-153C>G rs886058954 0.00004
NM_000274.3(OAT):c.-104T>C rs886046813 0.00004
NM_000284.4(PDHA1):c.291+12G>A rs755244308 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_000370.3(TTPA):c.*1486C>T rs535310725 0.00004
NM_000370.3(TTPA):c.352A>G (p.Arg118Gly) rs751549880 0.00004
NM_000370.3(TTPA):c.616G>A (p.Val206Ile) rs554118281 0.00004
NM_000371.4(TTR):c.148G>A (p.Val50Met) rs28933979 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_000487.6(ARSA):c.*380G>A rs1249327412 0.00004
NM_000487.6(ARSA):c.-223G>T rs752129372 0.00004
NM_000520.6(HEXA):c.986+3A>G rs200926928 0.00004
NM_000521.4(HEXB):c.1082+5G>A rs5030731 0.00004
NM_000530.8(MPZ):c.428C>T (p.Thr143Met) rs750724650 0.00004
NM_000784.4(CYP27A1):c.545T>C (p.Ile182Thr) rs556745324 0.00004
NM_001005361.3(DNM2):c.-116C>T rs966672075 0.00004
NM_001005361.3(DNM2):c.2418G>A (p.Ala806=) rs200968756 0.00004
NM_001005361.3(DNM2):c.497G>A (p.Arg166Gln) rs200002469 0.00004
NM_001005373.4(LRSAM1):c.1141C>T (p.Arg381Trp) rs763390117 0.00004
NM_001005373.4(LRSAM1):c.1382A>T (p.Gln461Leu) rs145382004 0.00004
NM_001005373.4(LRSAM1):c.685G>A (p.Glu229Lys) rs563259179 0.00004
NM_001005373.4(LRSAM1):c.954C>T (p.Asn318=) rs200527839 0.00004
NM_001031710.3(KLHL7):c.793+5G>C rs375718274 0.00004
NM_001034850.3(RETREG1):c.*510A>T rs1456553866 0.00004
NM_001034850.3(RETREG1):c.264C>T (p.Ser88=) rs750040156 0.00004
NM_001034850.3(RETREG1):c.808+6T>C rs368052487 0.00004
NM_001042472.3(ABHD12):c.315C>T (p.Phe105=) rs151069701 0.00004
NM_001042472.3(ABHD12):c.334A>T (p.Ile112Phe) rs376230028 0.00004
NM_001079866.2(BCS1L):c.-50+425T>C rs886055625 0.00004
NM_001113491.2(SEPTIN9):c.1465G>A (p.Glu489Lys) rs770758927 0.00004
NM_001113491.2(SEPTIN9):c.146C>A (p.Thr49Asn) rs549141429 0.00004
NM_001122955.4(BSCL2):c.1234+14T>G rs778380128 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_001130823.2(DNMT1):c.-72C>T rs779334757 0.00004
NM_001130823.3(DNMT1):c.1436A>C (p.Glu479Ala) rs374027926 0.00004
NM_001130823.3(DNMT1):c.3116+11G>T rs773580930 0.00004
NM_001130823.3(DNMT1):c.4173G>A (p.Pro1391=) rs550868730 0.00004
NM_001136472.2(LITAF):c.*193G>A rs886051652 0.00004
NM_001195248.2(APTX):c.740G>A (p.Arg247Gln) rs142133683 0.00004
NM_001303.4(COX10):c.*535C>A rs886052604 0.00004
NM_001303.4(COX10):c.543G>A (p.Pro181=) rs371273328 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_001365536.1(SCN9A):c.*125C>T rs200465050 0.00004
NM_001365536.1(SCN9A):c.*1357C>T rs200338267 0.00004
NM_001365536.1(SCN9A):c.-42T>C rs201915876 0.00004
NM_001365536.1(SCN9A):c.1793G>A (p.Arg598His) rs201318927 0.00004
NM_001365536.1(SCN9A):c.822A>G (p.Lys274=) rs199784484 0.00004
NM_001370298.3(FGD4):c.*1259A>G rs756972257 0.00004
NM_001370298.3(FGD4):c.*1354A>G rs886049261 0.00004
NM_001370298.3(FGD4):c.*3438C>T rs886049269 0.00004
NM_001370298.3(FGD4):c.*4862C>A rs886049275 0.00004
NM_001370298.3(FGD4):c.*4925A>T rs886049276 0.00004
NM_001370298.3(FGD4):c.*5072A>G rs886049278 0.00004
NM_001374736.1(DST):c.3600T>C (p.Ile1200=) rs200453699 0.00004
NM_001376.5(DYNC1H1):c.10896C>A (p.Pro3632=) rs200903643 0.00004
NM_001376.5(DYNC1H1):c.10941G>A (p.Pro3647=) rs374214760 0.00004
NM_001376.5(DYNC1H1):c.11873G>T (p.Gly3958Val) rs150118849 0.00004
NM_001376.5(DYNC1H1):c.13152G>A (p.Ala4384=) rs536121075 0.00004
NM_001376.5(DYNC1H1):c.7193G>A (p.Arg2398His) rs912429154 0.00004
NM_001376.5(DYNC1H1):c.7431C>T (p.Pro2477=) rs375687099 0.00004
NM_001376.5(DYNC1H1):c.7821C>T (p.Ser2607=) rs375547282 0.00004
NM_001386140.1(MTTP):c.*826T>C rs960548926 0.00004
NM_001386140.1(MTTP):c.*98T>A rs886058961 0.00004
NM_001386140.1(MTTP):c.110C>T (p.Thr37Met) rs371307089 0.00004
NM_001386140.1(MTTP):c.1769+3A>G rs375993709 0.00004
NM_001386140.1(MTTP):c.1888A>G (p.Thr630Ala) rs368679444 0.00004
NM_001386140.1(MTTP):c.2167G>A (p.Asp723Asn) rs371023325 0.00004
NM_001386140.1(MTTP):c.833A>G (p.Lys278Arg) rs886058957 0.00004
NM_001605.3(AARS1):c.2700G>A (p.Thr900=) rs140814462 0.00004
NM_001953.5(TYMP):c.516+10G>A rs552829713 0.00004
NM_001953.5(TYMP):c.647-9C>G rs549324764 0.00004
NM_002047.4(GARS1):c.1694T>A (p.Leu565Gln) rs200726600 0.00004
NM_002180.3(IGHMBP2):c.*172C>T rs3750978 0.00004
NM_002180.3(IGHMBP2):c.*529C>T rs1373174966 0.00004
NM_002180.3(IGHMBP2):c.1340C>G (p.Ala447Gly) rs144240271 0.00004
NM_002180.3(IGHMBP2):c.217G>A (p.Gly73Arg) rs376644749 0.00004
NM_002180.3(IGHMBP2):c.2612-15G>A rs372230504 0.00004
NM_002180.3(IGHMBP2):c.2646C>A (p.Asp882Glu) rs372629862 0.00004
NM_002180.3(IGHMBP2):c.2784+7C>T rs58094037 0.00004
NM_002180.3(IGHMBP2):c.2883G>A (p.Leu961=) rs3750977 0.00004
NM_002495.4(NDUFS4):c.-22C>A rs144843461 0.00004
NM_002529.4(NTRK1):c.1252-6C>G rs776728101 0.00004
NM_002529.4(NTRK1):c.2371T>C (p.Tyr791His) rs750111437 0.00004
NM_002529.4(NTRK1):c.288-5C>T rs200860423 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_002778.3(PSAP):c.-50G>T rs886047154 0.00004
NM_002778.4(PSAP):c.*346C>T rs951110904 0.00004
NM_002778.4(PSAP):c.167C>G (p.Pro56Arg) rs571773332 0.00004
NM_002857.4(PEX19):c.*662C>T rs773981843 0.00004
NM_002977.3(SCN9A):c.-348G>C rs1051254799 0.00004
NM_003477.3(PDHX):c.1188A>G (p.Leu396=) rs200434738 0.00004
NM_003560.4(PLA2G6):c.*160T>C rs886057500 0.00004
NM_003560.4(PLA2G6):c.*473C>T rs886057498 0.00004
NM_003560.4(PLA2G6):c.*493C>G rs188998877 0.00004
NM_003560.4(PLA2G6):c.*515C>T rs1280474402 0.00004
NM_003560.4(PLA2G6):c.1267G>A (p.Ala423Thr) rs746217497 0.00004
NM_003560.4(PLA2G6):c.898G>A (p.Ala300Thr) rs528966598 0.00004
NM_003560.4(PLA2G6):c.995G>C (p.Cys332Ser) rs780423461 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_003680.4(YARS1):c.685-11A>G rs751943571 0.00004
NM_004082.5(DCTN1):c.-162G>A rs1292504283 0.00004
NM_004082.5(DCTN1):c.1822G>A (p.Val608Met) rs780858230 0.00004
NM_004082.5(DCTN1):c.2952C>G (p.Ala984=) rs371241720 0.00004
NM_004082.5(DCTN1):c.3782G>A (p.Arg1261Gln) rs553822174 0.00004
NM_004082.5(DCTN1):c.673C>T (p.Arg225Trp) rs371723224 0.00004
NM_004082.5(DCTN1):c.824G>A (p.Arg275His) rs375266113 0.00004
NM_004168.4(SDHA):c.1014G>A (p.Ala338=) rs201341132 0.00004
NM_004168.4(SDHA):c.1973C>T (p.Pro658Leu) rs377632619 0.00004
NM_004168.4(SDHA):c.5C>T (p.Ser2Leu) rs780064103 0.00004
NM_004376.6(COX15):c.-265T>G rs373242921 0.00004
NM_004376.6(COX15):c.-338C>T rs751586131 0.00004
NM_004544.4(NDUFA10):c.*1594G>A rs773071160 0.00004
NM_004544.4(NDUFA10):c.*2455C>G rs756778773 0.00004
NM_004544.4(NDUFA10):c.*3557G>A rs149933652 0.00004
NM_004544.4(NDUFA10):c.*428C>T rs557106858 0.00004
NM_004544.4(NDUFA10):c.529G>A (p.Gly177Arg) rs759587515 0.00004
NM_004544.4(NDUFA10):c.549T>C (p.Cys183=) rs149783296 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_004589.4(SCO1):c.*61A>C rs886052594 0.00004
NM_004589.4(SCO1):c.*731A>G rs1019914508 0.00004
NM_004589.4(SCO1):c.259C>T (p.Pro87Ser) rs757958481 0.00004
NM_004589.4(SCO1):c.33T>C (p.Val11=) rs780127886 0.00004
NM_004589.4(SCO1):c.579G>T (p.Leu193=) rs376145746 0.00004
NM_004637.6(RAB7A):c.*1301A>G rs182528613 0.00004
NM_004637.6(RAB7A):c.*956G>A rs1421148594 0.00004
NM_004637.6(RAB7A):c.-18A>G rs886057941 0.00004
NM_004637.6(RAB7A):c.568A>G (p.Ile190Val) rs147480945 0.00004
NM_004813.4(PEX16):c.616C>G (p.Leu206Val) rs375515674 0.00004
NM_004863.4(SPTLC2):c.*3809T>C rs1021970499 0.00004
NM_004863.4(SPTLC2):c.-42A>G rs751107431 0.00004
NM_004863.4(SPTLC2):c.1128G>A (p.Thr376=) rs773806229 0.00004
NM_004863.4(SPTLC2):c.1470C>T (p.Asn490=) rs374657234 0.00004
NM_005006.7(NDUFS1):c.1120A>G (p.Thr374Ala) rs765436915 0.00004
NM_005957.5(MTHFR):c.155G>A (p.Arg52Gln) rs754980119 0.00004
NM_006096.4(NDRG1):c.1155C>T (p.Ala385=) rs774605205 0.00004
NM_006096.4(NDRG1):c.304G>A (p.Gly102Ser) rs200433822 0.00004
NM_006158.5(NEFL):c.*1464A>G rs773097050 0.00004
NM_006158.5(NEFL):c.*1482C>T rs886062827 0.00004
NM_006158.5(NEFL):c.*51A>G rs538082598 0.00004
NM_006308.3(HSPB3):c.*16T>G rs201783790 0.00004
NM_006329.4(FBLN5):c.-57G>A rs546827390 0.00004
NM_006329.4(FBLN5):c.273G>A (p.Pro91=) rs368771780 0.00004
NM_006415.4(SPTLC1):c.501A>G (p.Gly167=) rs139980134 0.00004
NM_007103.4(NDUFV1):c.1309-9C>T rs374581520 0.00004
NM_012073.5(CCT5):c.*1126T>A rs375626550 0.00004
NM_012073.5(CCT5):c.*1401G>A rs188649700 0.00004
NM_012073.5(CCT5):c.*347T>C rs774174590 0.00004
NM_012073.5(CCT5):c.1075G>A (p.Val359Ile) rs147989324 0.00004
NM_012073.5(CCT5):c.1283C>G (p.Ser428Cys) rs201280643 0.00004
NM_012073.5(CCT5):c.878A>T (p.Lys293Ile) rs148752621 0.00004
NM_014317.5(PDSS1):c.488G>A (p.Arg163His) rs780198984 0.00004
NM_014845.6(FIG4):c.262C>T (p.Arg88Ter) rs753207473 0.00004
NM_014845.6(FIG4):c.33G>C (p.Ser11=) rs527523781 0.00004
NM_014874.4(MFN2):c.1269G>A (p.Thr423=) rs145994616 0.00004
NM_014874.4(MFN2):c.176-7C>T rs374055101 0.00004
NM_014874.4(MFN2):c.522T>C (p.His174=) rs762789747 0.00004
NM_014874.4(MFN2):c.58C>T (p.His20Tyr) rs201715603 0.00004
NM_015046.7(SETX):c.1416A>T (p.Lys472Asn) rs886063558 0.00004
NM_015046.7(SETX):c.540A>G (p.Lys180=) rs757470639 0.00004
NM_015046.7(SETX):c.6122T>C (p.Ile2041Thr) rs140676924 0.00004
NM_015046.7(SETX):c.6435C>T (p.Ile2145=) rs374110190 0.00004
NM_015046.7(SETX):c.9A>G (p.Thr3=) rs139681694 0.00004
NM_016156.6(MTMR2):c.*2042G>C rs923425383 0.00004
NM_016156.6(MTMR2):c.655-8A>G rs768562214 0.00004
NM_018319.4(TDP1):c.*1200G>A rs758892109 0.00004
NM_018319.4(TDP1):c.*37T>C rs374710359 0.00004
NM_018319.4(TDP1):c.757G>A (p.Ala253Thr) rs202165305 0.00004
NM_018972.2(GDAP1):c.*2723T>C rs886063119 0.00004
NM_018972.4(GDAP1):c.*1372A>G rs896559706 0.00004
NM_018972.4(GDAP1):c.*860T>C rs554748057 0.00004
NM_020247.5(COQ8A):c.1236C>T (p.Ala412=) rs764541059 0.00004
NM_020247.5(COQ8A):c.1711G>A (p.Ala571Thr) rs762900727 0.00004
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) rs145034527 0.00004
NM_020312.4(COQ9):c.20C>T (p.Ser7Phe) rs1198499357 0.00004
NM_020312.4(COQ9):c.315G>A (p.Thr105=) rs201238241 0.00004
NM_020631.4(PLEKHG5):c.*1087G>T rs761811347 0.00004
NM_020631.5(PLEKHG5):c.*816C>T rs1557731626 0.00004
NM_020631.6(PLEKHG5):c.*159G>A rs909809050 0.00004
NM_020631.6(PLEKHG5):c.*68C>T rs886046496 0.00004
NM_020631.6(PLEKHG5):c.2485G>T (p.Asp829Tyr) rs200162521 0.00004
NM_020631.6(PLEKHG5):c.430C>T (p.Arg144Cys) rs778272514 0.00004
NM_020631.6(PLEKHG5):c.571C>T (p.Arg191Trp) rs183712624 0.00004
NM_020631.6(PLEKHG5):c.753C>T (p.Ser251=) rs556687525 0.00004
NM_021625.5(TRPV4):c.*303G>A rs909596433 0.00004
NM_021625.5(TRPV4):c.1074C>T (p.Pro358=) rs140040335 0.00004
NM_021625.5(TRPV4):c.205A>C (p.Met69Leu) rs200199102 0.00004
NM_021625.5(TRPV4):c.936G>A (p.Ala312=) rs202084699 0.00004
NM_021830.5(TWNK):c.*234T>G rs886046633 0.00004
NM_021830.5(TWNK):c.*438G>C rs886046634 0.00004
NM_021830.5(TWNK):c.*561C>T rs901722933 0.00004
NM_021830.5(TWNK):c.*574C>T rs886046636 0.00004
NM_021830.5(TWNK):c.-549G>A rs886046625 0.00004
NM_021830.5(TWNK):c.1572C>T (p.His524=) rs774091248 0.00004
NM_021830.5(TWNK):c.1597G>A (p.Ala533Thr) rs139124415 0.00004
NM_021830.5(TWNK):c.1953G>A (p.Lys651=) rs771310512 0.00004
NM_021830.5(TWNK):c.56G>A (p.Gly19Glu) rs767175342 0.00004
NM_021830.5(TWNK):c.672T>C (p.Ala224=) rs368863664 0.00004
NM_022041.4(GAN):c.*2350T>A rs369040399 0.00004
NM_022041.4(GAN):c.1777C>T (p.Arg593Cys) rs886052336 0.00004
NM_022041.4(GAN):c.444C>T (p.His148=) rs764605890 0.00004
NM_022041.4(GAN):c.75G>A (p.Glu25=) rs754548795 0.00004
NM_024407.5(NDUFS7):c.158C>T (p.Ala53Val) rs565395435 0.00004
NM_024407.5(NDUFS7):c.455+13C>T rs376025020 0.00004
NM_024577.4(SH3TC2):c.*10505A>G rs886060137 0.00004
NM_024577.4(SH3TC2):c.*12146C>G rs886060123 0.00004
NM_024577.4(SH3TC2):c.*12256G>T rs753234712 0.00004
NM_024577.4(SH3TC2):c.*17049C>G rs1330263975 0.00004
NM_024577.4(SH3TC2):c.*17833T>G rs886060103 0.00004
NM_024577.4(SH3TC2):c.*18055C>A rs912198904 0.00004
NM_024577.4(SH3TC2):c.*19250T>A rs886060099 0.00004
NM_024577.4(SH3TC2):c.*22168C>G rs886060092 0.00004
NM_024577.4(SH3TC2):c.*3419C>T rs753848228 0.00004
NM_024577.4(SH3TC2):c.*4604G>A rs886060172 0.00004
NM_024577.4(SH3TC2):c.*5264G>A rs548009546 0.00004
NM_024577.4(SH3TC2):c.*6104C>T rs556527140 0.00004
NM_024577.4(SH3TC2):c.*7898A>G rs1196588420 0.00004
NM_024577.4(SH3TC2):c.*9073G>C rs886060150 0.00004
NM_024577.4(SH3TC2):c.*921C>T rs1051987911 0.00004
NM_024577.4(SH3TC2):c.*9466A>C rs980542009 0.00004
NM_030962.4(SBF2):c.129G>A (p.Gln43=) rs761285505 0.00004
NM_030962.4(SBF2):c.2474A>G (p.Lys825Arg) rs753921188 0.00004
NM_030962.4(SBF2):c.3163A>G (p.Ile1055Val) rs142891020 0.00004
NM_030962.4(SBF2):c.3582C>T (p.Leu1194=) rs201514622 0.00004
NM_030962.4(SBF2):c.810G>A (p.Thr270=) rs769963369 0.00004
NM_033305.3(VPS13A):c.*665C>G rs41289985 0.00004
NM_033305.3(VPS13A):c.2240A>G (p.Asn747Ser) rs189129300 0.00004
NM_033305.3(VPS13A):c.3466A>G (p.Ile1156Val) rs369818421 0.00004
NM_033305.3(VPS13A):c.6613G>T (p.Gly2205Cys) rs141164942 0.00004
NM_033305.3(VPS13A):c.6739T>A (p.Ser2247Thr) rs200616248 0.00004
NM_033305.3(VPS13A):c.6840T>C (p.His2280=) rs750072063 0.00004
NM_033305.3(VPS13A):c.7850C>T (p.Pro2617Leu) rs200293888 0.00004
NM_033305.3(VPS13A):c.981C>T (p.Ala327=) rs368425803 0.00004
NM_078470.6(COX15):c.*1122C>G rs142892403 0.00004
NM_078470.6(COX15):c.*1349A>C rs779762294 0.00004
NM_078470.6(COX15):c.*2167A>G rs1487355609 0.00004
NM_078470.6(COX15):c.*2620C>T rs1327045732 0.00004
NM_078470.6(COX15):c.*2850A>G rs895123603 0.00004
NM_078470.6(COX15):c.*2898A>G rs886046601 0.00004
NM_078470.6(COX15):c.164G>A (p.Arg55Lys) rs777532861 0.00004
NM_078470.6(COX15):c.784C>T (p.Arg262Ter) rs774366079 0.00004
NM_133259.4(LRPPRC):c.*218A>G rs949524933 0.00004
NM_133259.4(LRPPRC):c.*2230A>C rs866243257 0.00004
NM_133259.4(LRPPRC):c.*587C>T rs760992842 0.00004
NM_133259.4(LRPPRC):c.114C>T (p.Ser38=) rs886056063 0.00004
NM_133259.4(LRPPRC):c.1300G>A (p.Gly434Ser) rs760756132 0.00004
NM_133259.4(LRPPRC):c.4177T>G (p.Ser1393Ala) rs139493671 0.00004
NM_133259.4(LRPPRC):c.843C>T (p.Gly281=) rs766703715 0.00004
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg) rs397517901 0.00004
NM_170707.4(LMNA):c.936+12C>T rs199881992 0.00004
NM_174889.5(NDUFAF2):c.423A>G (p.Glu141=) rs550008432 0.00004
NM_174936.4(PCSK9):c.627C>T (p.Pro209=) rs375892354 0.00004
NM_181882.3(PRX):c.1828G>A (p.Glu610Lys) rs537664679 0.00004
NM_181882.3(PRX):c.2620G>A (p.Ala874Thr) rs145790961 0.00004
NM_181882.3(PRX):c.2690G>A (p.Arg897Gln) rs752531623 0.00004
NM_181882.3(PRX):c.2715C>A (p.Thr905=) rs188765166 0.00004
NM_181882.3(PRX):c.3775G>A (p.Glu1259Lys) rs751742049 0.00004
NM_181882.3(PRX):c.4118G>A (p.Arg1373Gln) rs763294661 0.00004
NM_181882.3(PRX):c.943C>T (p.Arg315Trp) rs763185527 0.00004
NM_198252.3(GSN):c.1037G>A (p.Arg346Gln) rs372681751 0.00004
NM_198252.3(GSN):c.2045C>T (p.Thr682Met) rs142854368 0.00004
NM_198252.3(GSN):c.7G>T (p.Val3Leu) rs138068754 0.00004
NM_000081.4(LYST):c.10758C>T (p.Cys3586=) rs145136281 0.00003
NM_000081.4(LYST):c.1996A>G (p.Ser666Gly) rs140284566 0.00003
NM_000081.4(LYST):c.4566A>C (p.Ala1522=) rs142344106 0.00003
NM_000081.4(LYST):c.4632C>T (p.Ser1544=) rs373930104 0.00003
NM_000081.4(LYST):c.8497G>A (p.Ala2833Thr) rs200813210 0.00003
NM_000143.4(FH):c.305C>T (p.Ala102Val) rs61753295 0.00003
NM_000143.4(FH):c.521C>G (p.Pro174Arg) rs199822819 0.00003
NM_000143.4(FH):c.738+14A>G rs765629644 0.00003
NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser) rs752537626 0.00003
NM_000153.4(GALC):c.434C>T (p.Thr145Ile) rs781281519 0.00003
NM_000158.4(GBE1):c.*395A>G rs138608612 0.00003
NM_000166.6(GJB1):c.*22C>T rs745547989 0.00003
NM_000182.5(HADHA):c.*182C>T rs1013194171 0.00003
NM_000182.5(HADHA):c.41C>T (p.Ser14Phe) rs765213828 0.00003
NM_000217.3(KCNA1):c.*2651C>T rs886049524 0.00003
NM_000217.3(KCNA1):c.*3200A>G rs886049527 0.00003
NM_000217.3(KCNA1):c.*4276C>T rs1023613770 0.00003
NM_000217.3(KCNA1):c.-433C>G rs888237919 0.00003
NM_000217.3(KCNA1):c.1464G>A (p.Lys488=) rs147828649 0.00003
NM_000274.4(OAT):c.314T>C (p.Val105Ala) rs199957428 0.00003
NM_000284.4(PDHA1):c.69G>A (p.Val23=) rs770667770 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_000370.3(TTPA):c.*239C>T rs761554482 0.00003
NM_000370.3(TTPA):c.-18G>A rs764083716 0.00003
NM_000370.3(TTPA):c.338A>G (p.Lys113Arg) rs200547556 0.00003
NM_000371.4(TTR):c.267C>T (p.Tyr89=) rs757950308 0.00003
NM_000384.3(APOB):c.2170G>T (p.Gly724Cys) rs143425834 0.00003
NM_000384.3(APOB):c.2728G>T (p.Gly910Cys) rs747610107 0.00003
NM_000384.3(APOB):c.7585C>A (p.Gln2529Lys) rs747140161 0.00003
NM_000399.5(EGR2):c.*919G>C rs886047087 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_000487.6(ARSA):c.*293C>T rs886057654 0.00003
NM_000487.6(ARSA):c.*479C>G rs565093599 0.00003
NM_000487.6(ARSA):c.-355G>T rs886057661 0.00003
NM_000487.6(ARSA):c.1444G>A (p.Gly482Ser) rs377717242 0.00003
NM_000487.6(ARSA):c.225-4G>A rs372937480 0.00003
NM_000487.6(ARSA):c.369C>T (p.Ala123=) rs886057657 0.00003
NM_000520.5(HEXA):c.-181T>C rs886051463 0.00003
NM_000521.3(HEXB):c.-62G>A rs1045177384 0.00003
NM_000521.4(HEXB):c.-14G>A rs886060749 0.00003
NM_000530.8(MPZ):c.77C>T (p.Pro26Leu) rs530923760 0.00003
NM_000784.4(CYP27A1):c.241C>A (p.Leu81Met) rs370498798 0.00003
NM_000784.4(CYP27A1):c.808C>G (p.Arg270Gly) rs72551318 0.00003
NM_000784.4(CYP27A1):c.859G>A (p.Asp287Asn) rs775027289 0.00003
NM_000784.4(CYP27A1):c.871G>A (p.Glu291Lys) rs190012697 0.00003
NM_000925.4(PDHB):c.*360A>G rs886058776 0.00003
NM_000925.4(PDHB):c.641C>T (p.Pro214Leu) rs752056463 0.00003
NM_001005361.3(DNM2):c.*601C>T rs185820576 0.00003
NM_001005361.3(DNM2):c.1423-9C>G rs371006369 0.00003
NM_001005361.3(DNM2):c.162-9C>A rs200736669 0.00003
NM_001005361.3(DNM2):c.2031G>A (p.Lys677=) rs768285660 0.00003
NM_001005361.3(DNM2):c.750A>G (p.Ala250=) rs202214529 0.00003
NM_001005361.3(DNM2):c.890G>A (p.Arg297His) rs763894364 0.00003
NM_001005373.4(LRSAM1):c.1504-5C>G rs377190920 0.00003
NM_001005373.4(LRSAM1):c.1660C>T (p.Arg554Trp) rs757208185 0.00003
NM_001005373.4(LRSAM1):c.804C>T (p.Leu268=) rs771510127 0.00003
NM_001034850.3(RETREG1):c.*853G>A rs886060392 0.00003
NM_001034850.3(RETREG1):c.841A>G (p.Ser281Gly) rs1430719865 0.00003
NM_001042472.3(ABHD12):c.191+15G>A rs369626505 0.00003
NM_001113491.2(SEPTIN9):c.*1832A>G rs1347522638 0.00003
NM_001113491.2(SEPTIN9):c.*759A>G rs886053493 0.00003
NM_001113491.2(SEPTIN9):c.*989T>A rs879645823 0.00003
NM_001113491.2(SEPTIN9):c.158G>A (p.Arg53Gln) rs886053485 0.00003
NM_001122955.4(BSCL2):c.184C>T (p.Leu62Phe) rs756907468 0.00003
NM_001127649.3(PEX26):c.*2155A>G rs773334209 0.00003
NM_001127649.3(PEX26):c.*662C>T rs1197932567 0.00003
NM_001130823.3(DNMT1):c.-26C>T rs745759875 0.00003
NM_001130823.3(DNMT1):c.3117-4G>A rs781402268 0.00003
NM_001130823.3(DNMT1):c.886G>A (p.Glu296Lys) rs891770194 0.00003
NM_001136472.2(LITAF):c.-6+558C>T rs528624227 0.00003
NM_001136472.2(LITAF):c.357C>T (p.Cys119=) rs549492447 0.00003
NM_001136472.2(LITAF):c.457G>A (p.Ala153Thr) rs543022814 0.00003
NM_001195248.2(APTX):c.375A>T (p.Glu125Asp) rs886063858 0.00003
NM_001303.4(COX10):c.*152T>A rs886052602 0.00003
NM_001303.4(COX10):c.*628C>T rs886052607 0.00003
NM_001303.4(COX10):c.44-3T>C rs759643676 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_001358921.2(COQ2):c.*257T>C rs746613612 0.00003
NM_001365536.1(SCN9A):c.*1605T>C rs199848927 0.00003
NM_001365536.1(SCN9A):c.2437A>G (p.Ser813Gly) rs201890240 0.00003
NM_001365536.1(SCN9A):c.685C>A (p.Pro229Thr) rs755653914 0.00003
NM_001365536.1(SCN9A):c.829C>A (p.Arg277=) rs121908916 0.00003
NM_001365536.1(SCN9A):c.980G>A (p.Gly327Glu) rs765818027 0.00003
NM_001370298.3(FGD4):c.*131A>G rs1251131756 0.00003
NM_001370298.3(FGD4):c.*3937A>G rs180683152 0.00003
NM_001370298.3(FGD4):c.*411A>G rs886049256 0.00003
NM_001370298.3(FGD4):c.*497T>C rs886049257 0.00003
NM_001370298.3(FGD4):c.*4988G>A rs540366205 0.00003
NM_001370298.3(FGD4):c.*734G>A rs886049258 0.00003
NM_001374736.1(DST):c.4380G>A (p.Thr1460=) rs200169945 0.00003
NM_001374736.1(DST):c.4750C>T (p.Arg1584Trp) rs200735287 0.00003
NM_001374736.1(DST):c.4930-428G>A rs886061640 0.00003
NM_001376.5(DYNC1H1):c.1086A>G (p.Thr362=) rs17540728 0.00003
NM_001376.5(DYNC1H1):c.11460+12G>A rs17512790 0.00003
NM_001376.5(DYNC1H1):c.11460+4G>A rs201518717 0.00003
NM_001376.5(DYNC1H1):c.1296A>G (p.Val432=) rs767564445 0.00003
NM_001376.5(DYNC1H1):c.161C>T (p.Ala54Val) rs772070566 0.00003
NM_001376.5(DYNC1H1):c.1861G>A (p.Asp621Asn) rs755333803 0.00003
NM_001376.5(DYNC1H1):c.2672A>G (p.His891Arg) rs774004189 0.00003
NM_001376.5(DYNC1H1):c.7308G>A (p.Ala2436=) rs754446530 0.00003
NM_001386140.1(MTTP):c.2320T>G (p.Ser774Ala) rs148362467 0.00003
NM_001540.5(HSPB1):c.383A>G (p.Gln128Arg) rs558882005 0.00003
NM_001605.3(AARS1):c.*169C>G rs554221793 0.00003
NM_001605.3(AARS1):c.1481G>T (p.Ser494Ile) rs771059047 0.00003
NM_001605.3(AARS1):c.2732A>G (p.Asn911Ser) rs746822330 0.00003
NM_001605.3(AARS1):c.518A>G (p.Asp173Gly) rs765398055 0.00003
NM_001723.7(DST):c.7580T>C (p.Ile2527Thr) rs754471163 0.00003
NM_001953.5(TYMP):c.-92C>T rs886057636 0.00003
NM_002047.4(GARS1):c.1923T>C (p.His641=) rs182542046 0.00003
NM_002047.4(GARS1):c.882-4A>G rs778219649 0.00003
NM_002180.3(IGHMBP2):c.*379G>A rs533355737 0.00003
NM_002180.3(IGHMBP2):c.*415G>A rs886048609 0.00003
NM_002180.3(IGHMBP2):c.1478C>T (p.Thr493Ile) rs780594709 0.00003
NM_002180.3(IGHMBP2):c.1827G>A (p.Ala609=) rs541245852 0.00003
NM_002495.4(NDUFS4):c.360C>G (p.Pro120=) rs368876333 0.00003
NM_002495.4(NDUFS4):c.77C>T (p.Ser26Phe) rs201430870 0.00003
NM_002496.4(NDUFS8):c.64C>T (p.Pro22Ser) rs369602258 0.00003
NM_002506.3(NGF):c.173C>T (p.Ala58Val) rs201861727 0.00003
NM_002506.3(NGF):c.421G>C (p.Val141Leu) rs199511298 0.00003
NM_002506.3(NGF):c.477G>A (p.Val159=) rs886045115 0.00003
NM_002529.4(NTRK1):c.2355C>T (p.Ala785=) rs772156529 0.00003
NM_002529.4(NTRK1):c.628G>A (p.Asp210Asn) rs745366033 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.435G>A (p.Met145Ile) rs368273118 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_002778.4(PSAP):c.*787C>T rs932052243 0.00003
NM_002778.4(PSAP):c.*9A>G rs376628499 0.00003
NM_002778.4(PSAP):c.336C>T (p.Ser112=) rs370977178 0.00003
NM_002778.4(PSAP):c.565C>T (p.Pro189Ser) rs188854022 0.00003
NM_002778.4(PSAP):c.798G>A (p.Ala266=) rs199672678 0.00003
NM_002778.4(PSAP):c.923C>T (p.Pro308Leu) rs886047150 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_003172.4(SURF1):c.328A>G (p.Met110Val) rs782754332 0.00003
NM_003172.4(SURF1):c.736A>G (p.Ile246Val) rs782480169 0.00003
NM_003560.4(PLA2G6):c.*620G>A rs948625014 0.00003
NM_003560.4(PLA2G6):c.-31C>T rs376270953 0.00003
NM_003560.4(PLA2G6):c.448G>A (p.Glu150Lys) rs777548266 0.00003
NM_003560.4(PLA2G6):c.895-5C>T rs372128546 0.00003
NM_003630.3(PEX3):c.899G>A (p.Arg300Gln) rs200463608 0.00003
NM_003680.4(YARS1):c.1507G>A (p.Ala503Thr) rs778099655 0.00003
NM_004082.5(DCTN1):c.2136T>C (p.Asp712=) rs147297927 0.00003
NM_004082.5(DCTN1):c.2633A>G (p.Tyr878Cys) rs778201974 0.00003
NM_004082.5(DCTN1):c.2761-13G>A rs531275207 0.00003
NM_004168.4(SDHA):c.441C>T (p.Pro147=) rs201453889 0.00003
NM_004168.4(SDHA):c.512G>A (p.Arg171His) rs587782076 0.00003
NM_004376.5(COX15):c.*3330A>G rs769776249 0.00003
NM_004376.5(COX15):c.*3652A>G rs1033966106 0.00003
NM_004376.5(COX15):c.*3729C>G rs886046597 0.00003
NM_004376.5(COX15):c.*4181C>A rs1009446425 0.00003
NM_004376.6(COX15):c.-142A>C rs560024737 0.00003
NM_004544.4(NDUFA10):c.*1011A>G rs575477219 0.00003
NM_004544.4(NDUFA10):c.*2648C>T rs953906857 0.00003
NM_004544.4(NDUFA10):c.*3098A>T rs886055813 0.00003
NM_004544.4(NDUFA10):c.865C>T (p.Arg289Cys) rs762669820 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_004589.4(SCO1):c.*80A>G rs1338702106 0.00003
NM_004589.4(SCO1):c.140G>A (p.Arg47Gln) rs746265672 0.00003
NM_004637.6(RAB7A):c.*1344G>A rs763557372 0.00003
NM_004637.6(RAB7A):c.*1374G>A rs539522952 0.00003
NM_004813.4(PEX16):c.*309G>C rs886048325 0.00003
NM_004863.4(SPTLC2):c.*1521G>A rs886050846 0.00003
NM_004863.4(SPTLC2):c.*1622G>A rs1175716506 0.00003
NM_004863.4(SPTLC2):c.*3396A>G rs886050838 0.00003
NM_004863.4(SPTLC2):c.*3813G>A rs886050834 0.00003
NM_004863.4(SPTLC2):c.*697C>G rs187339967 0.00003
NM_005006.7(NDUFS1):c.-61G>C rs367762150 0.00003
NM_005006.7(NDUFS1):c.70A>G (p.Thr24Ala) rs774332882 0.00003
NM_005908.4(MANBA):c.2540C>A (p.Thr847Asn) rs376012848 0.00003
NM_006096.4(NDRG1):c.*1195G>T rs561506934 0.00003
NM_006096.4(NDRG1):c.*306C>T rs886062714 0.00003
NM_006096.4(NDRG1):c.*377G>A rs377385607 0.00003
NM_006096.4(NDRG1):c.1087C>T (p.Arg363Cys) rs530143616 0.00003
NM_006096.4(NDRG1):c.373G>A (p.Val125Ile) rs200593999 0.00003
NM_006158.5(NEFL):c.1315T>A (p.Phe439Ile) rs199775873 0.00003
NM_006158.5(NEFL):c.564C>G (p.Ala188=) rs1457926450 0.00003
NM_006308.3(HSPB3):c.67C>T (p.Arg23Ter) rs755999042 0.00003
NM_006329.4(FBLN5):c.*458T>C rs886050887 0.00003
NM_006415.4(SPTLC1):c.*503C>T rs994723205 0.00003
NM_006415.4(SPTLC1):c.442T>C (p.Leu148=) rs376342795 0.00003
NM_006415.4(SPTLC1):c.640A>G (p.Met214Val) rs781435924 0.00003
NM_007103.4(NDUFV1):c.766C>T (p.Arg256Cys) rs755312472 0.00003
NM_007103.4(NDUFV1):c.843T>C (p.His281=) rs766555879 0.00003
NM_012073.5(CCT5):c.*345T>C rs886059757 0.00003
NM_012073.5(CCT5):c.*420T>C rs755661384 0.00003
NM_012073.5(CCT5):c.648C>G (p.Gly216=) rs754143874 0.00003
NM_014317.5(PDSS1):c.1108-7C>G rs367942639 0.00003
NM_014317.5(PDSS1):c.426G>A (p.Ala142=) rs149274703 0.00003
NM_014317.5(PDSS1):c.860T>C (p.Val287Ala) rs367783149 0.00003
NM_014845.5(FIG4):c.-152C>A rs1408966015 0.00003
NM_014845.6(FIG4):c.243A>G (p.Lys81=) rs200257799 0.00003
NM_014845.6(FIG4):c.2547-11A>G rs745613994 0.00003
NM_014845.6(FIG4):c.2567C>T (p.Ser856Leu) rs200970494 0.00003
NM_014874.4(MFN2):c.*1562G>A rs551566332 0.00003
NM_014874.4(MFN2):c.*1662T>C rs1020801224 0.00003
NM_014874.4(MFN2):c.*297T>A rs886045224 0.00003
NM_014874.4(MFN2):c.2145C>T (p.Ala715=) rs571011689 0.00003
NM_015046.7(SETX):c.3117A>G (p.Ile1039Met) rs886063555 0.00003
NM_015046.7(SETX):c.6396+8G>C rs752365500 0.00003
NM_015046.7(SETX):c.6829T>C (p.Leu2277=) rs189444354 0.00003
NM_015046.7(SETX):c.710A>G (p.Tyr237Cys) rs138538492 0.00003
NM_015046.7(SETX):c.7851G>A (p.Thr2617=) rs747616517 0.00003
NM_015046.7(SETX):c.806C>T (p.Ser269Leu) rs757988188 0.00003
NM_016156.6(MTMR2):c.*1150C>T rs886048766 0.00003
NM_016156.6(MTMR2):c.*335T>C rs1565341245 0.00003
NM_017929.5(PEX26):c.-203G>A rs544836312 0.00003
NM_018319.4(TDP1):c.*264G>T rs779122283 0.00003
NM_018319.4(TDP1):c.*631C>T rs1027214918 0.00003
NM_018319.4(TDP1):c.1799C>T (p.Thr600Met) rs772139596 0.00003
NM_018319.4(TDP1):c.353C>T (p.Ala118Val) rs150113775 0.00003
NM_018319.4(TDP1):c.716A>G (p.His239Arg) rs750038981 0.00003
NM_018319.4(TDP1):c.998C>T (p.Pro333Leu) rs142600338 0.00003
NM_018972.4(GDAP1):c.*1080G>A rs766481914 0.00003
NM_018972.4(GDAP1):c.*1437A>C rs557040712 0.00003
NM_018972.4(GDAP1):c.*1570G>C rs886063114 0.00003
NM_018972.4(GDAP1):c.*644G>T rs913538379 0.00003
NM_018972.4(GDAP1):c.*663T>C rs886063107 0.00003
NM_018979.4(WNK1):c.2624C>G (p.Thr875Arg) rs529032048 0.00003
NM_020247.5(COQ8A):c.*631C>G rs886046073 0.00003
NM_020247.5(COQ8A):c.116C>T (p.Ala39Val) rs773489358 0.00003
NM_020247.5(COQ8A):c.1450T>A (p.Phe484Ile) rs778967806 0.00003
NM_020312.4(COQ9):c.240C>G (p.Pro80=) rs2301773 0.00003
NM_020631.6(PLEKHG5):c.2691C>T (p.Ala897=) rs755539639 0.00003
NM_021625.5(TRPV4):c.1038C>T (p.Tyr346=) rs750086412 0.00003
NM_021625.5(TRPV4):c.1211G>A (p.Arg404His) rs377257364 0.00003
NM_021625.5(TRPV4):c.37G>T (p.Gly13Trp) rs763302555 0.00003
NM_021625.5(TRPV4):c.742C>T (p.Arg248Cys) rs370289434 0.00003
NM_021830.5(TWNK):c.492C>T (p.Leu164=) rs775463083 0.00003
NM_022041.4(GAN):c.*544C>G rs141552591 0.00003
NM_022041.4(GAN):c.-74G>C rs886052331 0.00003
NM_022041.4(GAN):c.283-15A>G rs754182168 0.00003
NM_024407.5(NDUFS7):c.322G>A (p.Val108Met) rs368174338 0.00003
NM_024407.5(NDUFS7):c.5C>T (p.Ala2Val) rs775410920 0.00003
NM_024407.5(NDUFS7):c.613C>G (p.Arg205Gly) rs775856806 0.00003
NM_024577.4(SH3TC2):c.*10573T>C rs886060136 0.00003
NM_024577.4(SH3TC2):c.*11160C>T rs886060132 0.00003
NM_024577.4(SH3TC2):c.*11927T>C rs75711075 0.00003
NM_024577.4(SH3TC2):c.*14315A>C rs762925324 0.00003
NM_024577.4(SH3TC2):c.*18824T>C rs1259040390 0.00003
NM_024577.4(SH3TC2):c.*19342A>G rs886060098 0.00003
NM_024577.4(SH3TC2):c.*1942del rs886060183 0.00003
NM_024577.4(SH3TC2):c.*21118G>T rs886060095 0.00003
NM_024577.4(SH3TC2):c.*21149A>G rs552963495 0.00003
NM_024577.4(SH3TC2):c.*21281T>G rs528064272 0.00003
NM_024577.4(SH3TC2):c.*21955A>G rs575501943 0.00003
NM_024577.4(SH3TC2):c.*22505G>T rs1034634583 0.00003
NM_024577.4(SH3TC2):c.*3034A>C rs547028114 0.00003
NM_024577.4(SH3TC2):c.*3411C>T rs886060178 0.00003
NM_024577.4(SH3TC2):c.*4232G>A rs886060174 0.00003
NM_024577.4(SH3TC2):c.*5666A>G rs749263197 0.00003
NM_024577.4(SH3TC2):c.*7877A>G rs374095669 0.00003
NM_024577.4(SH3TC2):c.*8283A>T rs780934660 0.00003
NM_024577.4(SH3TC2):c.*932T>A rs886060186 0.00003
NM_024577.4(SH3TC2):c.*9980_*9981insTATT rs1554119372 0.00003
NM_024577.4(SH3TC2):c.2398C>T (p.Leu800Phe) rs764616291 0.00003
NM_024577.4(SH3TC2):c.660G>C (p.Val220=) rs202052720 0.00003
NM_030962.4(SBF2):c.2457T>G (p.Ile819Met) rs746363004 0.00003
NM_030962.4(SBF2):c.4107A>C (p.Ser1369=) rs769205402 0.00003
NM_030962.4(SBF2):c.48G>A (p.Glu16=) rs889453292 0.00003
NM_030962.4(SBF2):c.93T>C (p.Phe31=) rs200263159 0.00003
NM_033305.3(VPS13A):c.*182G>A rs983693743 0.00003
NM_033305.3(VPS13A):c.-150C>T rs560445300 0.00003
NM_033305.3(VPS13A):c.2440A>G (p.Thr814Ala) rs564878665 0.00003
NM_033305.3(VPS13A):c.2667+4G>A rs748465954 0.00003
NM_033305.3(VPS13A):c.3146T>C (p.Ile1049Thr) rs1437731472 0.00003
NM_033305.3(VPS13A):c.4909A>C (p.Thr1637Pro) rs757415947 0.00003
NM_033305.3(VPS13A):c.515C>T (p.Pro172Leu) rs772689261 0.00003
NM_033305.3(VPS13A):c.5725T>C (p.Leu1909=) rs139817600 0.00003
NM_033305.3(VPS13A):c.623G>A (p.Arg208Gln) rs201208791 0.00003
NM_033305.3(VPS13A):c.6667C>T (p.Arg2223Cys) rs772152953 0.00003
NM_033305.3(VPS13A):c.8140A>C (p.Arg2714=) rs368161466 0.00003
NM_033305.3(VPS13A):c.9077+8C>G rs1325690140 0.00003
NM_078470.6(COX15):c.*2594T>G rs1470572029 0.00003
NM_133259.4(LRPPRC):c.*110G>A rs997583952 0.00003
NM_133259.4(LRPPRC):c.*1816T>C rs886056043 0.00003
NM_133259.4(LRPPRC):c.*1961T>C rs541683193 0.00003
NM_133259.4(LRPPRC):c.1219C>G (p.Leu407Val) rs368164663 0.00003
NM_133259.4(LRPPRC):c.1369+5G>A rs199628926 0.00003
NM_133259.4(LRPPRC):c.2228C>T (p.Ser743Phe) rs779873239 0.00003
NM_170707.4(LMNA):c.1227A>G (p.Thr409=) rs762130433 0.00003
NM_170707.4(LMNA):c.1324G>A (p.Val442Met) rs368542816 0.00003
NM_170707.4(LMNA):c.1517A>C (p.His506Pro) rs878855233 0.00003
NM_170707.4(LMNA):c.937-8C>A rs751707982 0.00003
NM_174889.5(NDUFAF2):c.414T>A (p.Phe138Leu) rs770172045 0.00003
NM_181882.3(PRX):c.*152A>G rs886054435 0.00003
NM_181882.3(PRX):c.*168C>A rs1020596240 0.00003
NM_181882.3(PRX):c.-143G>A rs559995627 0.00003
NM_181882.3(PRX):c.2282C>T (p.Pro761Leu) rs530370432 0.00003
NM_181882.3(PRX):c.2775C>T (p.Val925=) rs201792838 0.00003
NM_181882.3(PRX):c.2850G>C (p.Gly950=) rs770520776 0.00003
NM_181882.3(PRX):c.2933A>G (p.Lys978Arg) rs767386430 0.00003
NM_181882.3(PRX):c.493C>T (p.Arg165Cys) rs555499679 0.00003
NM_181882.3(PRX):c.539C>T (p.Pro180Leu) rs540526276 0.00003
NM_181882.3(PRX):c.80C>A (p.Thr27Asn) rs1291881750 0.00003
NM_198252.3(GSN):c.-9-2026C>T rs1048849212 0.00003
NM_198252.3(GSN):c.1443C>T (p.Pro481=) rs200156774 0.00003
NM_198252.3(GSN):c.1553G>A (p.Arg518His) rs769400986 0.00003
NM_198252.3(GSN):c.546T>G (p.Asn182Lys) rs752698745 0.00003
NM_000081.4(LYST):c.2870T>C (p.Met957Thr) rs201554916 0.00002
NM_000108.5(DLD):c.*355A>G rs886061910 0.00002
NM_000108.5(DLD):c.1503G>A (p.Ala501=) rs766286119 0.00002
NM_000108.5(DLD):c.226C>T (p.Leu76Phe) rs967089304 0.00002
NM_000108.5(DLD):c.677T>C (p.Val226Ala) rs750449027 0.00002
NM_000143.4(FH):c.358A>G (p.Ile120Val) rs199641124 0.00002
NM_000153.4(GALC):c.1671-1G>A rs1182103005 0.00002
NM_000153.4(GALC):c.318G>A (p.Gly106=) rs886050867 0.00002
NM_000158.4(GBE1):c.292G>C (p.Val98Leu) rs762945205 0.00002
NM_000158.4(GBE1):c.556-6C>T rs754051144 0.00002
NM_000182.5(HADHA):c.1794T>C (p.His598=) rs149021400 0.00002
NM_000182.5(HADHA):c.1912A>G (p.Ile638Val) rs545660610 0.00002
NM_000182.5(HADHA):c.560G>C (p.Arg187Thr) rs146667859 0.00002
NM_000217.3(KCNA1):c.*3268C>T rs886049528 0.00002
NM_000217.3(KCNA1):c.*4926G>A rs886049537 0.00002
NM_000217.3(KCNA1):c.*517T>C rs140164407 0.00002
NM_000217.3(KCNA1):c.*5191G>A rs575078827 0.00002
NM_000217.3(KCNA1):c.-636G>C rs886049503 0.00002
NM_000274.4(OAT):c.1245G>A (p.Ala415=) rs751449034 0.00002
NM_000274.4(OAT):c.477C>T (p.Thr159=) rs575839041 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_000304.4(PMP22):c.*174G>A rs1386490077 0.00002
NM_000304.4(PMP22):c.407A>C (p.Tyr136Ser) rs375449671 0.00002
NM_000370.3(TTPA):c.*1407G>A rs1805273393 0.00002
NM_000370.3(TTPA):c.*286C>G rs886063068 0.00002
NM_000370.3(TTPA):c.202C>A (p.Arg68=) rs973874631 0.00002
NM_000370.3(TTPA):c.522C>T (p.Ser174=) rs772020906 0.00002
NM_000399.5(EGR2):c.-1A>G rs553201646 0.00002
NM_000399.5(EGR2):c.918C>T (p.Ala306=) rs886047094 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_000487.6(ARSA):c.*1714G>A rs183937648 0.00002
NM_000487.6(ARSA):c.*466C>T rs1181265537 0.00002
NM_000487.6(ARSA):c.251C>T (p.Pro84Leu) rs6151411 0.00002
NM_000520.6(HEXA):c.64G>A (p.Ala22Thr) rs756218457 0.00002
NM_000521.4(HEXB):c.1083-14A>C rs776536464 0.00002
NM_000530.8(MPZ):c.*522C>A rs900816889 0.00002
NM_000784.4(CYP27A1):c.322C>T (p.Leu108=) rs192344487 0.00002
NM_000784.4(CYP27A1):c.368A>C (p.Lys123Thr) rs778424069 0.00002
NM_000784.4(CYP27A1):c.507G>A (p.Ala169=) rs776260288 0.00002
NM_000784.4(CYP27A1):c.525G>A (p.Thr175=) rs200506778 0.00002
NM_000784.4(CYP27A1):c.666C>T (p.Phe222=) rs751692931 0.00002
NM_000784.4(CYP27A1):c.747G>A (p.Gln249=) rs764766872 0.00002
NM_001005361.3(DNM2):c.1196+710G>A rs140208362 0.00002
NM_001005361.3(DNM2):c.1671+14G>A rs767768534 0.00002
NM_001005373.4(LRSAM1):c.*356G>A rs1394418871 0.00002
NM_001005373.4(LRSAM1):c.*597T>G rs751523580 0.00002
NM_001005373.4(LRSAM1):c.-302C>T rs1253485349 0.00002
NM_001005373.4(LRSAM1):c.1159+13A>T rs756667241 0.00002
NM_001034850.3(RETREG1):c.*1170A>G rs184543943 0.00002
NM_001034850.3(RETREG1):c.*498G>A rs554300777 0.00002
NM_001034850.3(RETREG1):c.1418C>G (p.Thr473Arg) rs1186811814 0.00002
NM_001042472.3(ABHD12):c.718G>A (p.Val240Met) rs572997548 0.00002
NM_001113491.2(SEPTIN9):c.*628G>A rs773994627 0.00002
NM_001113491.2(SEPTIN9):c.442C>T (p.Arg148Trp) rs544797046 0.00002
NM_001113491.2(SEPTIN9):c.519C>T (p.Pro173=) rs763954299 0.00002
NM_001113491.2(SEPTIN9):c.802C>T (p.Arg268Trp) rs762063100 0.00002
NM_001122955.4(BSCL2):c.1200C>T (p.Ser400=) rs766492897 0.00002
NM_001122955.4(BSCL2):c.986G>A (p.Arg329Gln) rs771322168 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_001130823.3(DNMT1):c.1149T>C (p.Tyr383=) rs766807027 0.00002
NM_001130823.3(DNMT1):c.4554C>T (p.His1518=) rs753248212 0.00002
NM_001130823.3(DNMT1):c.867C>T (p.Asp289=) rs750916721 0.00002
NM_001136472.2(LITAF):c.-6+526_-6+527insT rs886051655 0.00002
NM_001136472.2(LITAF):c.100C>A (p.Pro34Thr) rs759905004 0.00002
NM_001303.4(COX10):c.1169C>T (p.Ala390Val) rs749603596 0.00002
NM_001303.4(COX10):c.736C>T (p.Pro246Ser) rs777697759 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_001365536.1(SCN9A):c.*2729C>A rs1313840276 0.00002
NM_001365536.1(SCN9A):c.*948G>A rs201415802 0.00002
NM_001365536.1(SCN9A):c.1619G>A (p.Arg540His) rs199748300 0.00002
NM_001365536.1(SCN9A):c.2496A>C (p.Ser832=) rs200185692 0.00002
NM_001365536.1(SCN9A):c.294C>A (p.Phe98Leu) rs199824489 0.00002
NM_001365536.1(SCN9A):c.5586G>A (p.Gln1862=) rs199572382 0.00002
NM_001365536.1(SCN9A):c.73C>A (p.Gln25Lys) rs200709311 0.00002
NM_001370298.3(FGD4):c.*1068A>G rs537833755 0.00002
NM_001370298.3(FGD4):c.*1781G>A rs886049264 0.00002
NM_001370298.3(FGD4):c.*4832G>A rs1047737160 0.00002
NM_001370298.3(FGD4):c.*69T>C rs1332829385 0.00002
NM_001370298.3(FGD4):c.1263A>G (p.Arg421=) rs773609461 0.00002
NM_001370658.1(BTD):c.-87G>T rs755119589 0.00002
NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr) rs104893692 0.00002
NM_001370658.1(BTD):c.1425C>A (p.Ile475=) rs780182371 0.00002
NM_001374736.1(DST):c.1779-287A>T rs754357722 0.00002
NM_001376.5(DYNC1H1):c.*108G>A rs886050378 0.00002
NM_001376.5(DYNC1H1):c.10575T>C (p.Arg3525=) rs763119040 0.00002
NM_001376.5(DYNC1H1):c.10833G>C (p.Arg3611=) rs35143882 0.00002
NM_001376.5(DYNC1H1):c.11056-10A>G rs751676054 0.00002
NM_001376.5(DYNC1H1):c.13088A>C (p.Lys4363Thr) rs141925609 0.00002
NM_001376.5(DYNC1H1):c.13151C>T (p.Ala4384Val) rs201971718 0.00002
NM_001376.5(DYNC1H1):c.2071A>C (p.Met691Leu) rs745510694 0.00002
NM_001376.5(DYNC1H1):c.2352C>T (p.Ser784=) rs149028205 0.00002
NM_001376.5(DYNC1H1):c.3033A>G (p.Glu1011=) rs755543897 0.00002
NM_001376.5(DYNC1H1):c.5424A>G (p.Leu1808=) rs770425304 0.00002
NM_001376.5(DYNC1H1):c.6339G>A (p.Arg2113=) rs776544497 0.00002
NM_001376.5(DYNC1H1):c.6883C>G (p.Leu2295Val) rs1412108587 0.00002
NM_001376.5(DYNC1H1):c.6884T>G (p.Leu2295Arg) rs1422291997 0.00002
NM_001376.5(DYNC1H1):c.7077C>T (p.Cys2359=) rs200885538 0.00002
NM_001376.5(DYNC1H1):c.9178C>T (p.Arg3060Cys) rs773658296 0.00002
NM_001386140.1(MTTP):c.901T>C (p.Cys301Arg) rs759706918 0.00002
NM_001540.5(HSPB1):c.216C>T (p.Ala72=) rs11547168 0.00002
NM_001540.5(HSPB1):c.498G>A (p.Glu166=) rs148357753 0.00002
NM_001605.3(AARS1):c.1043C>T (p.Thr348Met) rs762241422 0.00002
NM_001605.3(AARS1):c.1375G>A (p.Gly459Arg) rs769182022 0.00002
NM_001605.3(AARS1):c.2129C>T (p.Pro710Leu) rs754391789 0.00002
NM_001605.3(AARS1):c.2596G>A (p.Ala866Thr) rs374478964 0.00002
NM_001605.3(AARS1):c.828C>G (p.Ala276=) rs914414911 0.00002
NM_001723.7(DST):c.3690C>T (p.Ala1230=) rs374143007 0.00002
NM_001723.7(DST):c.5059G>A (p.Glu1687Lys) rs886061646 0.00002
NM_001723.7(DST):c.6673T>C (p.Leu2225=) rs753017821 0.00002
NM_001723.7(DST):c.7619A>G (p.Glu2540Gly) rs372196234 0.00002
NM_001953.5(TYMP):c.1147G>A (p.Ala383Thr) rs771700483 0.00002
NM_002180.3(IGHMBP2):c.-4G>A rs752980392 0.00002
NM_002180.3(IGHMBP2):c.1018G>A (p.Glu340Lys) rs750580259 0.00002
NM_002180.3(IGHMBP2):c.1349G>A (p.Arg450His) rs771485988 0.00002
NM_002180.3(IGHMBP2):c.2224A>G (p.Met742Val) rs754473710 0.00002
NM_002180.3(IGHMBP2):c.2979G>A (p.Thr993=) rs201760315 0.00002
NM_002180.3(IGHMBP2):c.963T>C (p.Asn321=) rs771900045 0.00002
NM_002495.4(NDUFS4):c.107G>A (p.Arg36Lys) rs1022912416 0.00002
NM_002495.4(NDUFS4):c.350+6T>C rs3733833 0.00002
NM_002506.3(NGF):c.146G>A (p.Arg49His) rs781072056 0.00002
NM_002506.3(NGF):c.196C>A (p.Gln66Lys) rs766082334 0.00002
NM_002529.4(NTRK1):c.1917G>A (p.Val639=) rs760171782 0.00002
NM_002529.4(NTRK1):c.2047-8C>T rs769308621 0.00002
NM_002529.4(NTRK1):c.2169C>T (p.Tyr723=) rs140852621 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_002778.4(PSAP):c.112A>T (p.Thr38Ser) rs535525554 0.00002
NM_002778.4(PSAP):c.1197C>T (p.His399=) rs748761213 0.00002
NM_002778.4(PSAP):c.40+12G>A rs886047153 0.00002
NM_002778.4(PSAP):c.419C>T (p.Ser140Phe) rs1428436713 0.00002
NM_002857.3(PEX19):c.-17A>C rs748844578 0.00002
NM_002857.4(PEX19):c.*2383C>G rs369641116 0.00002
NM_003172.4(SURF1):c.409C>T (p.Arg137Trp) rs373551988 0.00002
NM_003172.4(SURF1):c.437C>T (p.Ala146Val) rs140443050 0.00002
NM_003172.4(SURF1):c.643C>G (p.Pro215Ala) rs147165855 0.00002
NM_003477.3(PDHX):c.511G>A (p.Val171Ile) rs142256229 0.00002
NM_003560.4(PLA2G6):c.-15C>T rs758224555 0.00002
NM_003560.4(PLA2G6):c.1205T>A (p.Ile402Asn) rs764199136 0.00002
NM_003560.4(PLA2G6):c.1348+10G>A rs761202760 0.00002
NM_003560.4(PLA2G6):c.155A>G (p.Asn52Ser) rs772131195 0.00002
NM_003560.4(PLA2G6):c.1648C>T (p.Arg550Trp) rs886057502 0.00002
NM_003560.4(PLA2G6):c.209G>A (p.Arg70Gln) rs11570607 0.00002
NM_003560.4(PLA2G6):c.2215G>C (p.Asp739His) rs587784349 0.00002
NM_003630.3(PEX3):c.96T>C (p.Tyr32=) rs201718910 0.00002
NM_003680.3(YARS1):c.-415C>T rs918787397 0.00002
NM_003680.4(YARS1):c.1080A>G (p.Pro360=) rs752514117 0.00002
NM_003680.4(YARS1):c.1141-9C>G rs761211081 0.00002
NM_003680.4(YARS1):c.415G>A (p.Val139Met) rs772729857 0.00002
NM_003680.4(YARS1):c.684+3A>G rs375332060 0.00002
NM_003680.4(YARS1):c.874T>G (p.Tyr292Asp) rs753211165 0.00002
NM_004082.5(DCTN1):c.2753C>A (p.Pro918His) rs771075973 0.00002
NM_004082.5(DCTN1):c.3519C>T (p.Arg1173=) rs146094433 0.00002
NM_004168.4(SDHA):c.1580G>A (p.Arg527His) rs766352407 0.00002
NM_004168.4(SDHA):c.1725G>A (p.Ala575=) rs758252610 0.00002
NM_004168.4(SDHA):c.1727T>C (p.Leu576Pro) rs1318046349 0.00002
NM_004376.5(COX15):c.*4212G>A rs1381915856 0.00002
NM_004544.4(NDUFA10):c.*1665C>A rs1314058965 0.00002
NM_004544.4(NDUFA10):c.*2382C>A rs1289543938 0.00002
NM_004544.4(NDUFA10):c.*3113G>A rs886055812 0.00002
NM_004544.4(NDUFA10):c.1000-3C>G rs199648872 0.00002
NM_004544.4(NDUFA10):c.363G>A (p.Pro121=) rs749199433 0.00002
NM_004544.4(NDUFA10):c.925A>G (p.Ser309Gly) rs1222086753 0.00002
NM_004565.3(PEX14):c.1128G>C (p.Arg376=) rs772300180 0.00002
NM_004589.4(SCO1):c.2T>C (p.Met1Thr) rs371521614 0.00002
NM_004589.4(SCO1):c.304T>G (p.Phe102Val) rs539094737 0.00002
NM_004589.4(SCO1):c.771+3G>C rs376237477 0.00002
NM_004637.6(RAB7A):c.*1343C>T rs576597041 0.00002
NM_004637.6(RAB7A):c.*702T>G rs886057947 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_004863.4(SPTLC2):c.*1193G>C rs532533522 0.00002
NM_004863.4(SPTLC2):c.*6018A>C rs886050830 0.00002
NM_004863.4(SPTLC2):c.1450C>T (p.Arg484Trp) rs765520235 0.00002
NM_005006.7(NDUFS1):c.364G>A (p.Ala122Thr) rs886055502 0.00002
NM_005908.4(MANBA):c.*447G>A rs1025033156 0.00002
NM_005908.4(MANBA):c.*516T>C rs562838260 0.00002
NM_005908.4(MANBA):c.1317+14C>A rs200935345 0.00002
NM_005908.4(MANBA):c.2389G>A (p.Val797Met) rs747236675 0.00002
NM_005908.4(MANBA):c.378+1G>A rs142029636 0.00002
NM_006096.3(NDRG1):c.-173G>A rs886062720 0.00002
NM_006096.4(NDRG1):c.*184G>A rs778104868 0.00002
NM_006096.4(NDRG1):c.*791C>T rs1174133451 0.00002
NM_006096.4(NDRG1):c.*91G>A rs926781207 0.00002
NM_006096.4(NDRG1):c.4T>G (p.Ser2Ala) rs781381539 0.00002
NM_006096.4(NDRG1):c.634C>T (p.Arg212Cys) rs138285479 0.00002
NM_006096.4(NDRG1):c.894G>A (p.Pro298=) rs368061370 0.00002
NM_006158.5(NEFL):c.*1383C>T rs1172304666 0.00002
NM_006158.5(NEFL):c.1408C>T (p.Pro470Ser) rs758305388 0.00002
NM_006158.5(NEFL):c.45G>A (p.Lys15=) rs62636518 0.00002
NM_006308.3(HSPB3):c.-17C>A rs780916524 0.00002
NM_006329.4(FBLN5):c.-458G>A rs369441736 0.00002
NM_006415.4(SPTLC1):c.1221A>G (p.Gln407=) rs201413090 0.00002
NM_006415.4(SPTLC1):c.165+4C>T rs750680286 0.00002
NM_006415.4(SPTLC1):c.58-9C>T rs769188151 0.00002
NM_007103.4(NDUFV1):c.1217C>T (p.Pro406Leu) rs753686111 0.00002
NM_007103.4(NDUFV1):c.1355G>A (p.Arg452Gln) rs368184231 0.00002
NM_012073.5(CCT5):c.*566C>T rs377154717 0.00002
NM_012073.5(CCT5):c.87G>A (p.Met29Ile) rs1355138785 0.00002
NM_014317.5(PDSS1):c.*40T>C rs201474044 0.00002
NM_014317.5(PDSS1):c.83G>T (p.Arg28Leu) rs763915931 0.00002
NM_014317.5(PDSS1):c.859G>A (p.Val287Met) rs768568415 0.00002
NM_014317.5(PDSS1):c.999T>C (p.Thr333=) rs141586424 0.00002
NM_014365.3(HSPB8):c.48G>A (p.Leu16=) rs755586270 0.00002
NM_014845.6(FIG4):c.1482C>T (p.Asn494=) rs776928002 0.00002
NM_014845.6(FIG4):c.2547-4A>G rs886060985 0.00002
NM_014845.6(FIG4):c.2690T>C (p.Met897Thr) rs764958115 0.00002
NM_014874.4(MFN2):c.1818C>T (p.Gly606=) rs373843969 0.00002
NM_015046.7(SETX):c.*1442T>G rs886063549 0.00002
NM_015046.7(SETX):c.*491G>A rs1285017063 0.00002
NM_015046.7(SETX):c.*666C>G rs886063551 0.00002
NM_015046.7(SETX):c.1492A>G (p.Thr498Ala) rs779544809 0.00002
NM_015046.7(SETX):c.2439A>C (p.Glu813Asp) rs190841601 0.00002
NM_015046.7(SETX):c.3200C>T (p.Thr1067Ile) rs374091487 0.00002
NM_015046.7(SETX):c.4672A>G (p.Thr1558Ala) rs764920626 0.00002
NM_015046.7(SETX):c.4853C>G (p.Ser1618Ter) rs553512431 0.00002
NM_015046.7(SETX):c.5403A>C (p.Lys1801Asn) rs762071010 0.00002
NM_015046.7(SETX):c.5509C>T (p.His1837Tyr) rs749395151 0.00002
NM_015046.7(SETX):c.6356T>C (p.Val2119Ala) rs781741533 0.00002
NM_015046.7(SETX):c.7089C>T (p.Phe2363=) rs141497098 0.00002
NM_015046.7(SETX):c.7287+9C>A rs769170686 0.00002
NM_015046.7(SETX):c.7330C>T (p.Arg2444Cys) rs372535542 0.00002
NM_016156.6(MTMR2):c.*2357T>C rs886048762 0.00002
NM_016156.6(MTMR2):c.*660G>A rs886048768 0.00002
NM_016156.6(MTMR2):c.-89C>G rs868256702 0.00002
NM_016156.6(MTMR2):c.1450A>G (p.Ile484Val) rs886048771 0.00002
NM_016156.6(MTMR2):c.1843C>G (p.Gln615Glu) rs886048770 0.00002
NM_016156.6(MTMR2):c.1862G>A (p.Arg621Gln) rs371925152 0.00002
NM_018319.4(TDP1):c.1527G>C (p.Trp509Cys) rs369742694 0.00002
NM_018972.4(GDAP1):c.*1030T>C rs576789317 0.00002
NM_018972.4(GDAP1):c.*697A>G rs766828605 0.00002
NM_018972.4(GDAP1):c.374G>A (p.Arg125Gln) rs771810975 0.00002
NM_018979.4(WNK1):c.*1060C>G rs533399537 0.00002
NM_020247.5(COQ8A):c.*613G>A rs537646948 0.00002
NM_020247.5(COQ8A):c.1060G>A (p.Glu354Lys) rs886046066 0.00002
NM_020247.5(COQ8A):c.1257-9C>T rs200440257 0.00002
NM_020247.5(COQ8A):c.687G>A (p.Leu229=) rs752409331 0.00002
NM_020247.5(COQ8A):c.911C>T (p.Ala304Val) rs748118737 0.00002
NM_020631.4(PLEKHG5):c.*1006C>T rs886046489 0.00002
NM_020631.4(PLEKHG5):c.*1354T>C rs886046485 0.00002
NM_020631.5(PLEKHG5):c.*905G>A rs886046490 0.00002
NM_020631.6(PLEKHG5):c.-54C>T rs1056358234 0.00002
NM_020631.6(PLEKHG5):c.1397C>T (p.Ala466Val) rs199839017 0.00002
NM_020631.6(PLEKHG5):c.2433C>T (p.Arg811=) rs759272412 0.00002
NM_020631.6(PLEKHG5):c.2577C>T (p.Arg859=) rs758214289 0.00002
NM_020631.6(PLEKHG5):c.2582G>A (p.Arg861His) rs565558161 0.00002
NM_020631.6(PLEKHG5):c.2867G>A (p.Arg956Lys) rs773530688 0.00002
NM_020631.6(PLEKHG5):c.440-10C>T rs201656051 0.00002
NM_020631.6(PLEKHG5):c.440-11C>T rs747418024 0.00002
NM_020631.6(PLEKHG5):c.795+13A>G rs766753209 0.00002
NM_020631.6(PLEKHG5):c.865C>T (p.Pro289Ser) rs373198302 0.00002
NM_021625.5(TRPV4):c.1465G>A (p.Ala489Thr) rs758280554 0.00002
NM_021625.5(TRPV4):c.523A>G (p.Thr175Ala) rs146304351 0.00002
NM_021625.5(TRPV4):c.651G>A (p.Ala217=) rs371280831 0.00002
NM_021830.5(TWNK):c.*552G>C rs111434414 0.00002
NM_021830.5(TWNK):c.*769G>A rs919556945 0.00002
NM_021830.5(TWNK):c.922T>C (p.Leu308=) rs754389465 0.00002
NM_022041.4(GAN):c.*1557C>A rs528748555 0.00002
NM_022041.4(GAN):c.*1747A>G rs886052346 0.00002
NM_022041.4(GAN):c.*381G>A rs886052340 0.00002
NM_022041.4(GAN):c.-127C>T rs886052329 0.00002
NM_022041.4(GAN):c.1518C>T (p.Asn506=) rs886052333 0.00002
NM_024577.4(SH3TC2):c.*12010C>A rs1221405889 0.00002
NM_024577.4(SH3TC2):c.*12126C>T rs886060124 0.00002
NM_024577.4(SH3TC2):c.*12653C>A rs886060121 0.00002
NM_024577.4(SH3TC2):c.*16257T>C rs572081330 0.00002
NM_024577.4(SH3TC2):c.*16855A>G rs886060108 0.00002
NM_024577.4(SH3TC2):c.*20618C>T rs370869298 0.00002
NM_024577.4(SH3TC2):c.*3707C>T rs548127285 0.00002
NM_024577.4(SH3TC2):c.*4409T>A rs886060173 0.00002
NM_024577.4(SH3TC2):c.*5305C>A rs886060170 0.00002
NM_024577.4(SH3TC2):c.*5576C>T rs886060168 0.00002
NM_024577.4(SH3TC2):c.*5747C>T rs886060166 0.00002
NM_024577.4(SH3TC2):c.*6682G>C rs557452648 0.00002
NM_024577.4(SH3TC2):c.*7064A>G rs1027337341 0.00002
NM_024577.4(SH3TC2):c.*8567G>A rs369239776 0.00002
NM_024577.4(SH3TC2):c.*9233T>A rs886060148 0.00002
NM_024577.4(SH3TC2):c.1830G>A (p.Lys610=) rs370025626 0.00002
NM_024577.4(SH3TC2):c.1942C>T (p.Arg648Trp) rs537049075 0.00002
NM_024577.4(SH3TC2):c.2671G>A (p.Ala891Thr) rs779223727 0.00002
NM_030962.4(SBF2):c.-37G>T rs756232914 0.00002
NM_030962.4(SBF2):c.1971A>G (p.Val657=) rs368639697 0.00002
NM_030962.4(SBF2):c.2397A>G (p.Thr799=) rs759550730 0.00002
NM_030962.4(SBF2):c.3935G>A (p.Arg1312Gln) rs768571931 0.00002
NM_030962.4(SBF2):c.4932T>C (p.Ser1644=) rs757095964 0.00002
NM_030962.4(SBF2):c.5231+13A>G rs1242027664 0.00002
NM_033305.3(VPS13A):c.*1095A>G rs956751748 0.00002
NM_033305.3(VPS13A):c.*481G>A rs1057515664 0.00002
NM_033305.3(VPS13A):c.*503C>A rs1057515665 0.00002
NM_033305.3(VPS13A):c.2454A>G (p.Thr818=) rs777234852 0.00002
NM_033305.3(VPS13A):c.3769A>G (p.Ile1257Val) rs770035274 0.00002
NM_033305.3(VPS13A):c.6379-12T>G rs865850464 0.00002
NM_033305.3(VPS13A):c.6573G>T (p.Lys2191Asn) rs780035378 0.00002
NM_033305.3(VPS13A):c.7078G>A (p.Glu2360Lys) rs370401336 0.00002
NM_033305.3(VPS13A):c.7127A>G (p.Asn2376Ser) rs750460516 0.00002
NM_033305.3(VPS13A):c.7294C>G (p.Leu2432Val) rs892450419 0.00002
NM_033305.3(VPS13A):c.8095T>C (p.Ser2699Pro) rs758989403 0.00002
NM_033305.3(VPS13A):c.8157T>C (p.Phe2719=) rs755095881 0.00002
NM_033305.3(VPS13A):c.8350T>G (p.Ser2784Ala) rs368916151 0.00002
NM_078470.6(COX15):c.*2959G>C rs984578663 0.00002
NM_078470.6(COX15):c.841G>A (p.Val281Met) rs201703572 0.00002
NM_078470.6(COX15):c.84A>G (p.Arg28=) rs370595065 0.00002
NM_133259.4(LRPPRC):c.*1895G>A rs886056042 0.00002
NM_133259.4(LRPPRC):c.1558A>G (p.Asn520Asp) rs754771907 0.00002
NM_133259.4(LRPPRC):c.1677+7C>T rs374995996 0.00002
NM_133259.4(LRPPRC):c.2056A>G (p.Ile686Val) rs750526576 0.00002
NM_133259.4(LRPPRC):c.525T>C (p.Asn175=) rs570349090 0.00002
NM_133259.4(LRPPRC):c.96C>T (p.Gly32=) rs886056064 0.00002
NM_170707.4(LMNA):c.-109G>T rs886045360 0.00002
NM_170707.4(LMNA):c.-44T>A rs1185731069 0.00002
NM_170707.4(LMNA):c.1698+57G>A rs557334569 0.00002
NM_170707.4(LMNA):c.294G>A (p.Glu98=) rs886045363 0.00002
NM_170707.4(LMNA):c.295C>A (p.Arg99Ser) rs886045364 0.00002
NM_174889.5(NDUFAF2):c.98A>G (p.Tyr33Cys) rs779872068 0.00002
NM_181882.3(PRX):c.2306C>T (p.Pro769Leu) rs371887816 0.00002
NM_181882.3(PRX):c.3686G>A (p.Arg1229Gln) rs778017594 0.00002
NM_181882.3(PRX):c.833C>T (p.Pro278Leu) rs886054440 0.00002
NM_198252.3(GSN):c.228G>A (p.Ala76=) rs761824852 0.00002
NM_198252.3(GSN):c.723G>A (p.Ala241=) rs377624593 0.00002
NM_198252.3(GSN):c.886+12A>C rs201952723 0.00002
NM_000081.4(LYST):c.2724C>T (p.Cys908=) rs201440611 0.00001
NM_000081.4(LYST):c.2908A>C (p.Ile970Leu) rs539146732 0.00001
NM_000081.4(LYST):c.3310C>T (p.Arg1104Ter) rs80338652 0.00001
NM_000081.4(LYST):c.6216A>G (p.Val2072=) rs371248013 0.00001
NM_000081.4(LYST):c.8143G>A (p.Val2715Ile) rs202010795 0.00001
NM_000108.5(DLD):c.*1401G>T rs1266926415 0.00001
NM_000108.5(DLD):c.*1724C>G rs886061913 0.00001
NM_000108.5(DLD):c.*225C>T rs553824101 0.00001
NM_000108.5(DLD):c.*394A>G rs1246423607 0.00001
NM_000108.5(DLD):c.116C>T (p.Pro39Leu) rs766396602 0.00001
NM_000108.5(DLD):c.117G>A (p.Pro39=) rs751621846 0.00001
NM_000108.5(DLD):c.1228A>C (p.Lys410Gln) rs886061907 0.00001
NM_000108.5(DLD):c.375G>A (p.Glu125=) rs559057715 0.00001
NM_000143.4(FH):c.1048C>T (p.Arg350Trp) rs755436052 0.00001
NM_000143.4(FH):c.1109-7C>T rs1060504079 0.00001
NM_000143.4(FH):c.1443C>G (p.Thr481=) rs780200136 0.00001
NM_000143.4(FH):c.190A>G (p.Asn64Asp) rs886046319 0.00001
NM_000143.4(FH):c.415G>A (p.Val139Met) rs200343823 0.00001
NM_000143.4(FH):c.655G>A (p.Asp219Asn) rs11545656 0.00001
NM_000153.3(GALC):c.-21C>T rs768255795 0.00001
NM_000153.4(GALC):c.-17G>A rs886050868 0.00001
NM_000153.4(GALC):c.1418G>A (p.Arg473His) rs374868151 0.00001
NM_000153.4(GALC):c.1443A>G (p.Pro481=) rs1359281521 0.00001
NM_000153.4(GALC):c.2001A>C (p.Gly667=) rs769902280 0.00001
NM_000153.4(GALC):c.40G>A (p.Ala14Thr) rs1180517690 0.00001
NM_000153.4(GALC):c.443-12T>G rs886038261 0.00001
NM_000153.4(GALC):c.450A>T (p.Pro150=) rs886050866 0.00001
NM_000153.4(GALC):c.749T>C (p.Ile250Thr) rs886039569 0.00001
NM_000153.4(GALC):c.81C>T (p.Ala27=) rs759433028 0.00001
NM_000153.4(GALC):c.908C>T (p.Ser303Phe) rs756352952 0.00001
NM_000158.4(GBE1):c.*545G>C rs548648836 0.00001
NM_000158.4(GBE1):c.-6C>G rs1197683058 0.00001
NM_000158.4(GBE1):c.1581G>A (p.Thr527=) rs140571802 0.00001
NM_000158.4(GBE1):c.1874T>G (p.Phe625Cys) rs769567764 0.00001
NM_000158.4(GBE1):c.203A>T (p.Lys68Met) rs779371387 0.00001
NM_000158.4(GBE1):c.692-6A>G rs757655010 0.00001
NM_000158.4(GBE1):c.721A>G (p.Met241Val) rs747155575 0.00001
NM_000166.6(GJB1):c.*443G>A rs533182215 0.00001
NM_000182.5(HADHA):c.*405C>T rs886055859 0.00001
NM_000182.5(HADHA):c.*437T>A rs779402635 0.00001
NM_000182.5(HADHA):c.1829G>A (p.Arg610Gln) rs373966336 0.00001
NM_000182.5(HADHA):c.189A>G (p.Thr63=) rs748187062 0.00001
NM_000182.5(HADHA):c.2037A>G (p.Thr679=) rs1231960929 0.00001
NM_000182.5(HADHA):c.2192A>T (p.Asp731Val) rs775428463 0.00001
NM_000182.5(HADHA):c.27C>T (p.Ile9=) rs1453533016 0.00001
NM_000182.5(HADHA):c.869T>C (p.Val290Ala) rs759968341 0.00001
NM_000217.3(KCNA1):c.*1376T>C rs1303795570 0.00001
NM_000217.3(KCNA1):c.*2279G>A rs1196240577 0.00001
NM_000217.3(KCNA1):c.*234A>T rs886049514 0.00001
NM_000217.3(KCNA1):c.*3467C>T rs967253377 0.00001
NM_000217.3(KCNA1):c.*377T>C rs1947363733 0.00001
NM_000217.3(KCNA1):c.*4236C>T rs886049533 0.00001
NM_000217.3(KCNA1):c.*4289T>A rs886049534 0.00001
NM_000217.3(KCNA1):c.*4447A>G rs1421190880 0.00001
NM_000217.3(KCNA1):c.*4929G>T rs751650934 0.00001
NM_000217.3(KCNA1):c.*511A>G rs886049515 0.00001
NM_000217.3(KCNA1):c.*5190C>T rs913164685 0.00001
NM_000217.3(KCNA1):c.*5340G>C rs1947397293 0.00001
NM_000217.3(KCNA1):c.*724G>A rs886049516 0.00001
NM_000217.3(KCNA1):c.-909A>G rs1050577946 0.00001
NM_000217.3(KCNA1):c.-99C>T rs1367312353 0.00001
NM_000217.3(KCNA1):c.1086T>C (p.Ala362=) rs1264032724 0.00001
NM_000217.3(KCNA1):c.19G>A (p.Glu7Lys) rs529968149 0.00001
NM_000217.3(KCNA1):c.1A>G (p.Met1Val) rs776861490 0.00001
NM_000217.3(KCNA1):c.303C>T (p.Arg101=) rs886049509 0.00001
NM_000253.4(MTTP):c.-205G>A rs886058953 0.00001
NM_000274.4(OAT):c.*189A>G rs886046809 0.00001
NM_000274.4(OAT):c.*378A>G rs886046807 0.00001
NM_000274.4(OAT):c.*486A>G rs1377283827 0.00001
NM_000274.4(OAT):c.-60C>T rs886046812 0.00001
NM_000274.4(OAT):c.211T>C (p.Trp71Arg) rs780235906 0.00001
NM_000274.4(OAT):c.639C>T (p.Pro213=) rs773314783 0.00001
NM_000284.4(PDHA1):c.*1376C>T rs963546680 0.00001
NM_000284.4(PDHA1):c.*1779A>T rs758279534 0.00001
NM_000284.4(PDHA1):c.*1926G>C rs778062708 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.1801C>T (p.Arg601Trp) rs61753225 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_000304.4(PMP22):c.*907C>A rs963622100 0.00001
NM_000304.4(PMP22):c.344C>T (p.Ala115Val) rs148822354 0.00001
NM_000304.4(PMP22):c.74T>G (p.Val25Gly) rs765741053 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_000344.4(SMN1):c.840C>T (p.Phe280=) rs1164325688 0.00001
NM_000370.3(TTPA):c.*1441C>G rs553317836 0.00001
NM_000370.3(TTPA):c.*292A>G rs886063067 0.00001
NM_000370.3(TTPA):c.*769G>A rs775461769 0.00001
NM_000370.3(TTPA):c.358+15A>G rs371592549 0.00001
NM_000370.3(TTPA):c.558A>G (p.Ser186=) rs774283073 0.00001
NM_000370.3(TTPA):c.663+10A>G rs374903020 0.00001
NM_000370.3(TTPA):c.752C>T (p.Ser251Phe) rs756313678 0.00001
NM_000371.4(TTR):c.*31G>A rs553309501 0.00001
NM_000384.3(APOB):c.*207C>A rs886055566 0.00001
NM_000384.3(APOB):c.11563A>G (p.Ile3855Val) rs762255105 0.00001
NM_000384.3(APOB):c.12219C>T (p.Asn4073=) rs886055573 0.00001
NM_000384.3(APOB):c.12983A>G (p.Tyr4328Cys) rs886055572 0.00001
NM_000384.3(APOB):c.13601A>G (p.Tyr4534Cys) rs886055571 0.00001
NM_000384.3(APOB):c.4216+4A>G rs886055588 0.00001
NM_000399.5(EGR2):c.*655G>A rs886047089 0.00001
NM_000399.5(EGR2):c.*79C>A rs1310299341 0.00001
NM_000399.5(EGR2):c.541C>T (p.Leu181Phe) rs886047095 0.00001
NM_000399.5(EGR2):c.924C>T (p.Ala308=) rs886047093 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_000487.6(ARSA):c.*10G>A rs772710219 0.00001
NM_000487.6(ARSA):c.*1476G>A rs8142531 0.00001
NM_000487.6(ARSA):c.*1629A>C rs886057644 0.00001
NM_000487.6(ARSA):c.*1712C>T rs1330240384 0.00001
NM_000487.6(ARSA):c.1211-15T>C rs374150980 0.00001
NM_000487.6(ARSA):c.25C>T (p.Leu9Phe) rs886057658 0.00001
NM_000487.6(ARSA):c.470C>T (p.Pro157Leu) rs74315464 0.00001
NM_000487.6(ARSA):c.663C>T (p.Phe221=) rs754484249 0.00001
NM_000487.6(ARSA):c.883G>A (p.Gly295Ser) rs199476349 0.00001
NM_000520.5(HEXA):c.-207A>G rs886051464 0.00001
NM_000520.6(HEXA):c.*12C>T rs532797279 0.00001
NM_000520.6(HEXA):c.1033G>A (p.Gly345Ser) rs775322979 0.00001
NM_000520.6(HEXA):c.1495C>T (p.Arg499Cys) rs121907966 0.00001
NM_000520.6(HEXA):c.271G>A (p.Glu91Lys) rs756740656 0.00001
NM_000521.4(HEXB):c.*105T>C rs777009900 0.00001
NM_000521.4(HEXB):c.156G>A (p.Pro52=) rs758965664 0.00001
NM_000521.4(HEXB):c.842G>A (p.Arg281Gln) rs751678693 0.00001
NM_000530.8(MPZ):c.*1074A>C rs886045471 0.00001
NM_000530.8(MPZ):c.*369C>T rs1359055917 0.00001
NM_000530.8(MPZ):c.*903G>A rs1489097338 0.00001
NM_000530.8(MPZ):c.200G>A (p.Arg67His) rs201720099 0.00001
NM_000784.3(CYP27A1):c.-162C>T rs886055629 0.00001
NM_000784.4(CYP27A1):c.1213C>T (p.Arg405Trp) rs573951598 0.00001
NM_000784.4(CYP27A1):c.1369A>G (p.Thr457Ala) rs373870129 0.00001
NM_000784.4(CYP27A1):c.2T>C (p.Met1Thr) rs759003992 0.00001
NM_000925.4(PDHB):c.*199T>G rs886058777 0.00001
NM_000925.4(PDHB):c.*365T>A rs1023863848 0.00001
NM_000925.4(PDHB):c.*77C>T rs766780930 0.00001
NM_000925.4(PDHB):c.-12G>A rs758352130 0.00001
NM_000925.4(PDHB):c.1069T>C (p.Leu357=) rs768436316 0.00001
NM_000925.4(PDHB):c.11T>C (p.Val4Ala) rs751921912 0.00001
NM_000925.4(PDHB):c.212G>A (p.Arg71Gln) rs772939767 0.00001
NM_000925.4(PDHB):c.45C>G (p.Val15=) rs747916943 0.00001
NM_001005361.3(DNM2):c.*106T>C rs886054144 0.00001
NM_001005361.3(DNM2):c.*214C>T rs1271831719 0.00001
NM_001005361.3(DNM2):c.-153G>T rs886054138 0.00001
NM_001005361.3(DNM2):c.1400G>A (p.Arg467Gln) rs776126973 0.00001
NM_001005361.3(DNM2):c.1418A>T (p.Asp473Val) rs766613900 0.00001
NM_001005361.3(DNM2):c.1511C>T (p.Thr504Met) rs759366882 0.00001
NM_001005361.3(DNM2):c.1512G>A (p.Thr504=) rs767407905 0.00001
NM_001005361.3(DNM2):c.1772C>T (p.Thr591Met) rs372876881 0.00001
NM_001005361.3(DNM2):c.1773G>A (p.Thr591=) rs201604679 0.00001
NM_001005361.3(DNM2):c.1782-6C>T rs963604980 0.00001
NM_001005361.3(DNM2):c.1962G>A (p.Glu654=) rs746025991 0.00001
NM_001005361.3(DNM2):c.2414C>T (p.Ser805Leu) rs779081943 0.00001
NM_001005361.3(DNM2):c.2560G>T (p.Ala854Ser) rs886054141 0.00001
NM_001005361.3(DNM2):c.808G>A (p.Asp270Asn) rs1217925152 0.00001
NM_001005373.4(LRSAM1):c.-127C>A rs1834340914 0.00001
NM_001005373.4(LRSAM1):c.-188-121A>G rs886063453 0.00001
NM_001005373.4(LRSAM1):c.-189+127A>G rs1434818116 0.00001
NM_001005373.4(LRSAM1):c.-78C>T rs886063454 0.00001
NM_001005373.4(LRSAM1):c.1011C>T (p.Ser337=) rs886063456 0.00001
NM_001005373.4(LRSAM1):c.1073C>T (p.Ser358Leu) rs886063457 0.00001
NM_001005373.4(LRSAM1):c.1699-3C>T rs756218616 0.00001
NM_001005373.4(LRSAM1):c.1834G>A (p.Gly612Ser) rs1203313855 0.00001
NM_001005373.4(LRSAM1):c.284C>T (p.Ala95Val) rs570248730 0.00001
NM_001005373.4(LRSAM1):c.390G>C (p.Gln130His) rs1392820291 0.00001
NM_001005373.4(LRSAM1):c.598A>G (p.Ile200Val) rs542077582 0.00001
NM_001005373.4(LRSAM1):c.972G>A (p.Leu324=) rs940085400 0.00001
NM_001034850.3(RETREG1):c.1013C>T (p.Pro338Leu) rs886060395 0.00001
NM_001034850.3(RETREG1):c.321-10G>A rs539315640 0.00001
NM_001034850.3(RETREG1):c.442A>G (p.Arg148Gly) rs886060396 0.00001
NM_001034850.3(RETREG1):c.900G>A (p.Glu300=) rs368710242 0.00001
NM_001034850.3(RETREG1):c.94G>C (p.Ala32Pro) rs1377991492 0.00001
NM_001042472.3(ABHD12):c.*149G>A rs1013194735 0.00001
NM_001042472.3(ABHD12):c.*177C>T rs889909532 0.00001
NM_001042472.3(ABHD12):c.*377C>T rs886056562 0.00001
NM_001042472.3(ABHD12):c.137C>G (p.Ala46Gly) rs1007058021 0.00001
NM_001042472.3(ABHD12):c.167C>T (p.Ala56Val) rs760720412 0.00001
NM_001042472.3(ABHD12):c.250A>G (p.Ile84Val) rs776224682 0.00001
NM_001042472.3(ABHD12):c.836G>A (p.Arg279His) rs180761451 0.00001
NM_001042472.3(ABHD12):c.875G>A (p.Arg292Gln) rs771187489 0.00001
NM_001079866.2(BCS1L):c.258T>C (p.His86=) rs886055627 0.00001
NM_001079866.2(BCS1L):c.321-12G>A rs776363896 0.00001
NM_001079866.2(BCS1L):c.768C>G (p.Leu256=) rs781666793 0.00001
NM_001113491.2(SEPTIN9):c.*1548C>T rs1245509279 0.00001
NM_001113491.2(SEPTIN9):c.*1675C>T rs574185722 0.00001
NM_001113491.2(SEPTIN9):c.*586A>G rs886053492 0.00001
NM_001113491.2(SEPTIN9):c.*904G>A rs1568129606 0.00001
NM_001113491.2(SEPTIN9):c.1320C>G (p.Val440=) rs772005682 0.00001
NM_001113491.2(SEPTIN9):c.134G>A (p.Arg45Gln) rs781163314 0.00001
NM_001113491.2(SEPTIN9):c.1386C>T (p.Thr462=) rs377093783 0.00001
NM_001113491.2(SEPTIN9):c.1584C>G (p.Thr528=) rs373520148 0.00001
NM_001113491.2(SEPTIN9):c.322A>G (p.Thr108Ala) rs746996757 0.00001
NM_001113491.2(SEPTIN9):c.579C>G (p.Pro193=) rs775300302 0.00001
NM_001113491.2(SEPTIN9):c.76+12824C>T rs530024170 0.00001
NM_001122955.4(BSCL2):c.1054A>G (p.Ile352Val) rs775718358 0.00001
NM_001122955.4(BSCL2):c.88-634G>C rs575422877 0.00001
NM_001122955.4(BSCL2):c.991C>T (p.Arg331Cys) rs773431994 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.574C>T (p.Arg192Ter) rs61752136 0.00001
NM_001127649.3(PEX26):c.889C>T (p.Arg297Cys) rs780701336 0.00001
NM_001130823.3(DNMT1):c.1842G>A (p.Gln614=) rs756623224 0.00001
NM_001130823.3(DNMT1):c.2260G>A (p.Val754Ile) rs762172122 0.00001
NM_001130823.3(DNMT1):c.3036C>G (p.Ile1012Met) rs376854079 0.00001
NM_001130823.3(DNMT1):c.3117-8G>A rs769623856 0.00001
NM_001130823.3(DNMT1):c.3343C>T (p.Pro1115Ser) rs755865204 0.00001
NM_001130823.3(DNMT1):c.3394+7C>T rs886054128 0.00001
NM_001130823.3(DNMT1):c.3537G>A (p.Thr1179=) rs761140414 0.00001
NM_001130823.3(DNMT1):c.3567G>A (p.Ala1189=) rs746163207 0.00001
NM_001130823.3(DNMT1):c.3668G>A (p.Arg1223His) rs757460628 0.00001
NM_001130823.3(DNMT1):c.4074C>T (p.Ser1358=) rs2089536795 0.00001
NM_001130823.3(DNMT1):c.4164C>T (p.Ser1388=) rs779701784 0.00001
NM_001130823.3(DNMT1):c.4204A>T (p.Ile1402Phe) rs886054127 0.00001
NM_001130823.3(DNMT1):c.4657-15G>A rs201805582 0.00001
NM_001130823.3(DNMT1):c.4860C>T (p.Ala1620=) rs576877219 0.00001
NM_001130823.3(DNMT1):c.500C>G (p.Pro167Arg) rs886054129 0.00001
NM_001130823.3(DNMT1):c.526A>C (p.Lys176Gln) rs1020363356 0.00001
NM_001130823.3(DNMT1):c.720A>G (p.Arg240=) rs760733624 0.00001
NM_001130823.3(DNMT1):c.916C>T (p.Pro306Ser) rs761747950 0.00001
NM_001136472.2(LITAF):c.*1170A>G rs886051648 0.00001
NM_001136472.2(LITAF):c.*1422A>G rs1005760992 0.00001
NM_001136472.2(LITAF):c.*1870C>T rs150472475 0.00001
NM_001136472.2(LITAF):c.386C>T (p.Ala129Val) rs201512884 0.00001
NM_001136472.2(LITAF):c.88A>T (p.Asn30Tyr) rs368574479 0.00001
NM_001244008.2(KIF1A):c.75G>C (p.Lys25Asn) rs768320178 0.00001
NM_001303.4(COX10):c.*1002C>T rs1326135885 0.00001
NM_001303.4(COX10):c.*144T>C rs1906742963 0.00001
NM_001303.4(COX10):c.*485G>A rs931361027 0.00001
NM_001303.4(COX10):c.*564dup rs886052605 0.00001
NM_001303.4(COX10):c.*653G>A rs537449689 0.00001
NM_001303.4(COX10):c.*739A>G rs886052608 0.00001
NM_001303.4(COX10):c.870G>A (p.Val290=) rs1189180230 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_001365536.1(SCN9A):c.*164G>A rs1158330162 0.00001
NM_001365536.1(SCN9A):c.*1815T>C rs202203220 0.00001
NM_001365536.1(SCN9A):c.*217G>A rs200625860 0.00001
NM_001365536.1(SCN9A):c.*2721C>G rs199595958 0.00001
NM_001365536.1(SCN9A):c.*2860C>T rs200963393 0.00001
NM_001365536.1(SCN9A):c.*2986T>G rs201730339 0.00001
NM_001365536.1(SCN9A):c.*3094A>G rs1433503694 0.00001
NM_001365536.1(SCN9A):c.*3202T>C rs1015184575 0.00001
NM_001365536.1(SCN9A):c.*669A>G rs538508619 0.00001
NM_001365536.1(SCN9A):c.*835C>A rs199955941 0.00001
NM_001365536.1(SCN9A):c.-31G>A rs200780217 0.00001
NM_001365536.1(SCN9A):c.1208T>C (p.Met403Thr) rs199986805 0.00001
NM_001365536.1(SCN9A):c.1285C>T (p.Arg429Cys) rs763256222 0.00001
NM_001365536.1(SCN9A):c.1347T>C (p.Ser449=) rs201990547 0.00001
NM_001365536.1(SCN9A):c.1482G>T (p.Lys494Asn) rs777699798 0.00001
NM_001365536.1(SCN9A):c.1713C>T (p.Ala571=) rs200876333 0.00001
NM_001365536.1(SCN9A):c.2852T>C (p.Val951Ala) rs201890077 0.00001
NM_001365536.1(SCN9A):c.3368G>A (p.Ser1123Asn) rs141040985 0.00001
NM_001365536.1(SCN9A):c.3388G>A (p.Val1130Ile) rs765384427 0.00001
NM_001365536.1(SCN9A):c.3476G>A (p.Cys1159Tyr) rs1018959938 0.00001
NM_001365536.1(SCN9A):c.5247G>C (p.Leu1749=) rs372210358 0.00001
NM_001365951.3(KIF1B):c.*1104C>T rs886044995 0.00001
NM_001365951.3(KIF1B):c.1038-5del rs886044976 0.00001
NM_001370298.3(FGD4):c.*1006C>T rs886049260 0.00001
NM_001370298.3(FGD4):c.*1160G>A rs540745195 0.00001
NM_001370298.3(FGD4):c.*1274G>A rs570269532 0.00001
NM_001370298.3(FGD4):c.*1530T>C rs1180856784 0.00001
NM_001370298.3(FGD4):c.*2309G>A rs907361043 0.00001
NM_001370298.3(FGD4):c.*2859G>A rs772364905 0.00001
NM_001370298.3(FGD4):c.*3022A>G rs575960786 0.00001
NM_001370298.3(FGD4):c.*3482G>T rs886049270 0.00001
NM_001370298.3(FGD4):c.*3814A>G rs886049271 0.00001
NM_001370298.3(FGD4):c.*3905A>G rs886049273 0.00001
NM_001370298.3(FGD4):c.*4446A>G rs1056318297 0.00001
NM_001370298.3(FGD4):c.*5153G>A rs1160169859 0.00001
NM_001370298.3(FGD4):c.*5177G>A rs777896036 0.00001
NM_001370298.3(FGD4):c.*5243C>T rs1225473163 0.00001
NM_001370298.3(FGD4):c.*5265A>G rs1357653958 0.00001
NM_001370298.3(FGD4):c.1609C>G (p.Leu537Val) rs750265200 0.00001
NM_001370298.3(FGD4):c.167-62001C>G rs765758875 0.00001
NM_001370298.3(FGD4):c.2172+12T>G rs945554080 0.00001
NM_001370298.3(FGD4):c.721G>A (p.Glu241Lys) rs752621629 0.00001
NM_001370298.3(FGD4):c.809A>G (p.Asp270Gly) rs759415605 0.00001
NM_001370658.1(BTD):c.*57T>A rs886058118 0.00001
NM_001370658.1(BTD):c.1043A>C (p.Asp348Ala) rs886058115 0.00001
NM_001370658.1(BTD):c.1112C>T (p.Pro371Leu) rs375239909 0.00001
NM_001370658.1(BTD):c.136C>A (p.Pro46Thr) rs778785164 0.00001
NM_001370658.1(BTD):c.140C>G (p.Ser47Cys) rs747489101 0.00001
NM_001374736.1(DST):c.1899G>A (p.Val633=) rs746002438 0.00001
NM_001374736.1(DST):c.3154C>G (p.His1052Asp) rs767323555 0.00001
NM_001374736.1(DST):c.3857T>G (p.Ile1286Ser) rs886061649 0.00001
NM_001376.5(DYNC1H1):c.11497C>T (p.Leu3833=) rs200735835 0.00001
NM_001376.5(DYNC1H1):c.12705G>A (p.Pro4235=) rs199792795 0.00001
NM_001376.5(DYNC1H1):c.12759C>T (p.Gly4253=) rs529010293 0.00001
NM_001376.5(DYNC1H1):c.13682C>T (p.Thr4561Met) rs1376784009 0.00001
NM_001376.5(DYNC1H1):c.13719C>T (p.Asn4573=) rs886050377 0.00001
NM_001376.5(DYNC1H1):c.249G>C (p.Thr83=) rs1024563256 0.00001
NM_001376.5(DYNC1H1):c.2719-15T>C rs748772899 0.00001
NM_001376.5(DYNC1H1):c.366T>C (p.Thr122=) rs527943422 0.00001
NM_001376.5(DYNC1H1):c.390C>T (p.Pro130=) rs2273439 0.00001
NM_001376.5(DYNC1H1):c.432G>A (p.Ser144=) rs533327200 0.00001
NM_001376.5(DYNC1H1):c.4331C>T (p.Ala1444Val) rs141561289 0.00001
NM_001376.5(DYNC1H1):c.4959C>T (p.His1653=) rs773425996 0.00001
NM_001376.5(DYNC1H1):c.5050G>A (p.Val1684Ile) rs781664182 0.00001
NM_001376.5(DYNC1H1):c.5427A>G (p.Glu1809=) rs2048183675 0.00001
NM_001376.5(DYNC1H1):c.5472C>T (p.Ser1824=) rs769577090 0.00001
NM_001376.5(DYNC1H1):c.579C>T (p.Leu193=) rs1184080545 0.00001
NM_001376.5(DYNC1H1):c.7200C>A (p.Gly2400=) rs549582489 0.00001
NM_001376.5(DYNC1H1):c.7420G>A (p.Ala2474Thr) rs766837403 0.00001
NM_001376.5(DYNC1H1):c.9210G>A (p.Pro3070=) rs201817995 0.00001
NM_001386140.1(MTTP):c.*1018G>A rs1036088923 0.00001
NM_001386140.1(MTTP):c.*184G>A rs146172944 0.00001
NM_001386140.1(MTTP):c.*490_*494del rs886058963 0.00001
NM_001386140.1(MTTP):c.*668A>G rs1021704277 0.00001
NM_001386140.1(MTTP):c.-20G>A rs752823787 0.00001
NM_001386140.1(MTTP):c.-28T>C rs886058956 0.00001
NM_001386140.1(MTTP):c.-54C>T rs181769817 0.00001
NM_001386140.1(MTTP):c.1136T>C (p.Leu379Ser) rs138544271 0.00001
NM_001386140.1(MTTP):c.1477G>T (p.Ala493Ser) rs758939873 0.00001
NM_001386140.1(MTTP):c.2041G>A (p.Glu681Lys) rs886058958 0.00001
NM_001386140.1(MTTP):c.695C>T (p.Ala232Val) rs748108500 0.00001
NM_001386140.1(MTTP):c.756G>A (p.Ser252=) rs750749323 0.00001
NM_001386140.1(MTTP):c.791G>A (p.Gly264Asp) rs1428463955 0.00001
NM_001605.3(AARS1):c.*32T>C rs771868425 0.00001
NM_001605.3(AARS1):c.1059C>T (p.Val353=) rs1054385792 0.00001
NM_001605.3(AARS1):c.1110G>C (p.Met370Ile) rs1468385890 0.00001
NM_001605.3(AARS1):c.1120A>G (p.Ile374Val) rs142128800 0.00001
NM_001605.3(AARS1):c.1633G>A (p.Glu545Lys) rs764124393 0.00001
NM_001605.3(AARS1):c.1656T>C (p.Asp552=) rs148659998 0.00001
NM_001605.3(AARS1):c.2019G>C (p.Leu673=) rs775476419 0.00001
NM_001605.3(AARS1):c.2109G>C (p.Val703=) rs777499923 0.00001
NM_001605.3(AARS1):c.2113G>A (p.Glu705Lys) rs1223915249 0.00001
NM_001605.3(AARS1):c.2378G>C (p.Arg793Thr) rs886052253 0.00001
NM_001605.3(AARS1):c.63C>T (p.Asn21=) rs773045737 0.00001
NM_001605.3(AARS1):c.806C>G (p.Ala269Gly) rs769239545 0.00001
NM_001605.3(AARS1):c.904G>A (p.Ala302Thr) rs576221121 0.00001
NM_001605.3(AARS1):c.91A>G (p.Thr31Ala) rs886052256 0.00001
NM_001605.3(AARS1):c.946G>T (p.Asp316Tyr) rs750331983 0.00001
NM_001605.3(AARS1):c.962+15C>T rs779150762 0.00001
NM_001723.7(DST):c.4050G>A (p.Thr1350=) rs377356403 0.00001
NM_001723.7(DST):c.4110A>G (p.Glu1370=) rs571317621 0.00001
NM_001723.7(DST):c.4464C>T (p.Asp1488=) rs80337136 0.00001
NM_001723.7(DST):c.4972A>G (p.Asn1658Asp) rs886061647 0.00001
NM_001723.7(DST):c.6007G>A (p.Ala2003Thr) rs74874398 0.00001
NM_001723.7(DST):c.6240T>G (p.Cys2080Trp) rs199558360 0.00001
NM_001723.7(DST):c.7224G>T (p.Glu2408Asp) rs769369001 0.00001
NM_001723.7(DST):c.7909C>A (p.Pro2637Thr) rs763986013 0.00001
NM_001953.5(TYMP):c.202G>A (p.Gly68Ser) rs760529157 0.00001
NM_001953.5(TYMP):c.563G>C (p.Ser188Thr) rs145056860 0.00001
NM_001953.5(TYMP):c.929-1G>A rs1180285291 0.00001
NM_001953.5(TYMP):c.930G>A (p.Gly310=) rs773100466 0.00001
NM_002047.2(GARS1):c.-166T>G rs1008764831 0.00001
NM_002047.4(GARS1):c.1059C>G (p.His353Gln) rs886062273 0.00001
NM_002047.4(GARS1):c.1188T>C (p.Val396=) rs779184435 0.00001
NM_002047.4(GARS1):c.1253C>T (p.Thr418Met) rs746139865 0.00001
NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn) rs137852647 0.00001
NM_002047.4(GARS1):c.2211C>T (p.Ile737=) rs886062274 0.00001
NM_002047.4(GARS1):c.384G>A (p.Leu128=) rs886062272 0.00001
NM_002047.4(GARS1):c.766G>C (p.Asp256His) rs201399681 0.00001
NM_002180.3(IGHMBP2):c.*23C>T rs931118021 0.00001
NM_002180.3(IGHMBP2):c.*862T>C rs182410950 0.00001
NM_002180.3(IGHMBP2):c.1816C>T (p.Arg606Cys) rs536556753 0.00001
NM_002180.3(IGHMBP2):c.1874C>T (p.Thr625Ile) rs886048605 0.00001
NM_002180.3(IGHMBP2):c.2040G>A (p.Gln680=) rs886048606 0.00001
NM_002180.3(IGHMBP2):c.2194A>G (p.Met732Val) rs750717921 0.00001
NM_002180.3(IGHMBP2):c.2361G>A (p.Pro787=) rs187924099 0.00001
NM_002180.3(IGHMBP2):c.2667C>T (p.Ala889=) rs770556515 0.00001
NM_002180.3(IGHMBP2):c.2787C>G (p.Ile929Met) rs761854167 0.00001
NM_002180.3(IGHMBP2):c.381C>G (p.Ser127Arg) rs775782198 0.00001
NM_002180.3(IGHMBP2):c.547+9T>G rs886048603 0.00001
NM_002180.3(IGHMBP2):c.696G>T (p.Val232=) rs748899869 0.00001
NM_002180.3(IGHMBP2):c.714T>C (p.Val238=) rs755582766 0.00001
NM_002496.4(NDUFS8):c.*26T>G rs886048592 0.00001
NM_002496.4(NDUFS8):c.133G>A (p.Glu45Lys) rs764943259 0.00001
NM_002496.4(NDUFS8):c.299C>T (p.Ala100Val) rs748754134 0.00001
NM_002496.4(NDUFS8):c.501+12C>G rs372004236 0.00001
NM_002496.4(NDUFS8):c.574G>A (p.Gly192Arg) rs1371377502 0.00001
NM_002506.3(NGF):c.*120T>G rs886045114 0.00001
NM_002506.3(NGF):c.174G>A (p.Ala58=) rs147326889 0.00001
NM_002506.3(NGF):c.687T>C (p.Cys229=) rs750539380 0.00001
NM_002506.3(NGF):c.93C>G (p.Thr31=) rs1014644520 0.00001
NM_002529.4(NTRK1):c.1005G>A (p.Pro335=) rs780334454 0.00001
NM_002529.4(NTRK1):c.1196-11T>C rs1024148691 0.00001
NM_002529.4(NTRK1):c.1646C>T (p.Ala549Val) rs763247367 0.00001
NM_002529.4(NTRK1):c.1717G>A (p.Val573Met) rs755016431 0.00001
NM_002529.4(NTRK1):c.2248C>T (p.Arg750Cys) rs1009726086 0.00001
NM_002529.4(NTRK1):c.265G>A (p.Gly89Ser) rs2274496 0.00001
NM_002529.4(NTRK1):c.326A>G (p.Asp109Gly) rs141592864 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_002778.4(PSAP):c.*238G>C rs1174797357 0.00001
NM_002778.4(PSAP):c.*90C>T rs1348415797 0.00001
NM_002778.4(PSAP):c.*935A>G rs886047148 0.00001
NM_002778.4(PSAP):c.1146C>T (p.Cys382=) rs573095617 0.00001
NM_002778.4(PSAP):c.1432-4A>G rs775086571 0.00001
NM_002778.4(PSAP):c.250-12G>A rs886047152 0.00001
NM_002778.4(PSAP):c.423C>T (p.Leu141=) rs780891597 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_003172.4(SURF1):c.106+15C>G rs781892153 0.00001
NM_003172.4(SURF1):c.366C>T (p.Val122=) rs886063630 0.00001
NM_003172.4(SURF1):c.629C>T (p.Thr210Ile) rs1836455088 0.00001
NM_003172.4(SURF1):c.801G>A (p.Leu267=) rs782120692 0.00001
NM_003172.4(SURF1):c.836A>G (p.Tyr279Cys) rs587758543 0.00001
NM_003477.2(PDHX):c.-371G>A rs774565620 0.00001
NM_003477.3(PDHX):c.*742C>T rs577566893 0.00001
NM_003477.3(PDHX):c.-7C>T rs751680964 0.00001
NM_003477.3(PDHX):c.1164A>G (p.Glu388=) rs766725349 0.00001
NM_003477.3(PDHX):c.1450A>G (p.Thr484Ala) rs748511132 0.00001
NM_003560.2(PLA2G6):c.*676T>C rs1175205623 0.00001
NM_003560.4(PLA2G6):c.*35C>T rs532364258 0.00001
NM_003560.4(PLA2G6):c.1414G>A (p.Asp472Asn) rs375874092 0.00001
NM_003560.4(PLA2G6):c.1531C>G (p.Leu511Val) rs886057503 0.00001
NM_003560.4(PLA2G6):c.1600A>G (p.Met534Val) rs748730147 0.00001
NM_003560.4(PLA2G6):c.1903C>T (p.Arg635Ter) rs587784339 0.00001
NM_003560.4(PLA2G6):c.1945C>T (p.Arg649Cys) rs746432450 0.00001
NM_003560.4(PLA2G6):c.2028C>T (p.Ile676=) rs561645994 0.00001
NM_003560.4(PLA2G6):c.67C>T (p.Arg23Trp) rs769876649 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_003680.3(YARS1):c.-167T>A rs1057515514 0.00001
NM_003680.3(YARS1):c.-333C>T rs1057515442 0.00001
NM_003680.4(YARS1):c.*724T>C rs950577466 0.00001
NM_003680.4(YARS1):c.391C>T (p.Leu131=) rs759430430 0.00001
NM_004082.5(DCTN1):c.*57C>T rs567051449 0.00001
NM_004082.5(DCTN1):c.1059C>T (p.Gly353=) rs771325809 0.00001
NM_004082.5(DCTN1):c.2297G>A (p.Arg766Gln) rs200611961 0.00001
NM_004082.5(DCTN1):c.2505G>A (p.Thr835=) rs767877041 0.00001
NM_004082.5(DCTN1):c.3185G>A (p.Gly1062Asp) rs764918482 0.00001
NM_004082.5(DCTN1):c.3187A>G (p.Ile1063Val) rs759276455 0.00001
NM_004082.5(DCTN1):c.3197-13A>G rs374049568 0.00001
NM_004082.5(DCTN1):c.3291C>T (p.Ile1097=) rs769145486 0.00001
NM_004082.5(DCTN1):c.3478A>C (p.Asn1160His) rs747831061 0.00001
NM_004082.5(DCTN1):c.3621C>T (p.Leu1207=) rs1032786897 0.00001
NM_004082.5(DCTN1):c.3712C>G (p.Gln1238Glu) rs778307537 0.00001
NM_004082.5(DCTN1):c.3759G>A (p.Ala1253=) rs886056328 0.00001
NM_004082.5(DCTN1):c.59C>T (p.Ala20Val) rs773420384 0.00001
NM_004082.5(DCTN1):c.646-15G>A rs201438504 0.00001
NM_004168.3(SDHA):c.-63G>A rs886060513 0.00001
NM_004168.4(SDHA):c.1188G>A (p.Thr396=) rs778667374 0.00001
NM_004168.4(SDHA):c.558C>T (p.Ala186=) rs199618059 0.00001
NM_004168.4(SDHA):c.896-11G>T rs774043076 0.00001
NM_004376.5(COX15):c.*2841G>A rs886046599 0.00001
NM_004376.5(COX15):c.*4152C>T rs886046595 0.00001
NM_004376.6(COX15):c.-307C>G rs886046614 0.00001
NM_004376.6(COX15):c.-472T>C rs550813748 0.00001
NM_004544.4(NDUFA10):c.*105G>A rs886055825 0.00001
NM_004544.4(NDUFA10):c.*1262C>T rs759194775 0.00001
NM_004544.4(NDUFA10):c.*1709T>C rs562457080 0.00001
NM_004544.4(NDUFA10):c.*1927G>C rs1227609332 0.00001
NM_004544.4(NDUFA10):c.*1930C>G rs535714073 0.00001
NM_004544.4(NDUFA10):c.*2192T>A rs886055817 0.00001
NM_004544.4(NDUFA10):c.*2350G>A rs1218747092 0.00001
NM_004544.4(NDUFA10):c.*3143C>T rs1357789210 0.00001
NM_004544.4(NDUFA10):c.*3711A>G rs1466622883 0.00001
NM_004544.4(NDUFA10):c.*445C>G rs563264912 0.00001
NM_004544.4(NDUFA10):c.*489A>G rs886055824 0.00001
NM_004544.4(NDUFA10):c.*804T>C rs1422021026 0.00001
NM_004544.4(NDUFA10):c.*857G>C rs1303822860 0.00001
NM_004544.4(NDUFA10):c.460+5A>G rs1158773739 0.00001
NM_004544.4(NDUFA10):c.63C>G (p.Gly21=) rs980893132 0.00001
NM_004544.4(NDUFA10):c.985C>T (p.His329Tyr) rs1188020120 0.00001
NM_004551.2(NDUFS3):c.-41T>C rs750965789 0.00001
NM_004551.3(NDUFS3):c.34C>T (p.Arg12Cys) rs201457989 0.00001
NM_004551.3(NDUFS3):c.425G>A (p.Arg142His) rs780005953 0.00001
NM_004551.3(NDUFS3):c.657G>A (p.Val219=) rs377323760 0.00001
NM_004551.3(NDUFS3):c.737G>A (p.Arg246His) rs201371939 0.00001
NM_004551.3(NDUFS3):c.91T>C (p.Leu31=) rs770306617 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_004589.4(SCO1):c.*127A>G rs779082082 0.00001
NM_004589.4(SCO1):c.*526T>C rs2074615394 0.00001
NM_004589.4(SCO1):c.167G>A (p.Gly56Glu) rs374849575 0.00001
NM_004589.4(SCO1):c.29G>T (p.Arg10Leu) rs770075115 0.00001
NM_004589.4(SCO1):c.673G>A (p.Val225Ile) rs886052595 0.00001
NM_004589.4(SCO1):c.724A>C (p.Arg242=) rs761217696 0.00001
NM_004637.6(RAB7A):c.*831A>G rs1432428820 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_004863.4(SPTLC2):c.*2275C>T rs886050843 0.00001
NM_004863.4(SPTLC2):c.*2314C>T rs886050842 0.00001
NM_004863.4(SPTLC2):c.*2672A>G rs1407394634 0.00001
NM_004863.4(SPTLC2):c.*3380A>G rs1462623596 0.00001
NM_004863.4(SPTLC2):c.*3454C>T rs886050837 0.00001
NM_004863.4(SPTLC2):c.*3457T>C rs886050836 0.00001
NM_004863.4(SPTLC2):c.*3819C>T rs112133015 0.00001
NM_004863.4(SPTLC2):c.*5032T>A rs892847100 0.00001
NM_004863.4(SPTLC2):c.*523C>T rs561128453 0.00001
NM_004863.4(SPTLC2):c.*5915T>C rs886050831 0.00001
NM_004863.4(SPTLC2):c.*6253T>C rs370412771 0.00001
NM_004863.4(SPTLC2):c.407G>A (p.Arg136Gln) rs760762454 0.00001
NM_004863.4(SPTLC2):c.502A>G (p.Lys168Glu) rs762005720 0.00001
NM_005006.7(NDUFS1):c.*641A>G rs886055501 0.00001
NM_005006.7(NDUFS1):c.*756A>T rs755460274 0.00001
NM_005006.7(NDUFS1):c.1363A>G (p.Ile455Val) rs758095913 0.00001
NM_005006.7(NDUFS1):c.1525G>T (p.Asp509Tyr) rs1434275816 0.00001
NM_005006.7(NDUFS1):c.261+6T>C rs748906579 0.00001
NM_005006.7(NDUFS1):c.361T>C (p.Leu121=) rs780235386 0.00001
NM_005006.7(NDUFS1):c.396C>A (p.Asp132Glu) rs757139275 0.00001
NM_005006.7(NDUFS1):c.63T>C (p.Val21=) rs756632601 0.00001
NM_005572.3(LMNA):c.-210T>C rs886045356 0.00001
NM_005908.4(MANBA):c.*184A>G rs886058967 0.00001
NM_005908.4(MANBA):c.1072A>G (p.Ile358Val) rs199966543 0.00001
NM_005908.4(MANBA):c.1112+8A>C rs752741187 0.00001
NM_005908.4(MANBA):c.111G>T (p.Ser37=) rs927918838 0.00001
NM_005908.4(MANBA):c.1477G>A (p.Val493Ile) rs561172083 0.00001
NM_005908.4(MANBA):c.1522A>G (p.Thr508Ala) rs778853902 0.00001
NM_005908.4(MANBA):c.1746A>T (p.Ser582=) rs1730293546 0.00001
NM_005908.4(MANBA):c.2115T>C (p.Tyr705=) rs180816849 0.00001
NM_006096.4(NDRG1):c.*1621C>T rs1465673240 0.00001
NM_006096.4(NDRG1):c.*201A>T rs886062715 0.00001
NM_006096.4(NDRG1):c.*228G>A rs1489186863 0.00001
NM_006096.4(NDRG1):c.*392G>A rs562723755 0.00001
NM_006096.4(NDRG1):c.*48C>A rs1390985905 0.00001
NM_006096.4(NDRG1):c.-99A>G rs935238767 0.00001
NM_006096.4(NDRG1):c.1028G>A (p.Arg343His) rs144714216 0.00001
NM_006096.4(NDRG1):c.196G>A (p.Gly66Ser) rs780329667 0.00001
NM_006096.4(NDRG1):c.322G>A (p.Ala108Thr) rs144310406 0.00001
NM_006096.4(NDRG1):c.855+14_855+15del rs780070007 0.00001
NM_006158.5(NEFL):c.*171C>G rs886062834 0.00001
NM_006158.5(NEFL):c.*856T>C rs886062831 0.00001
NM_006158.5(NEFL):c.141G>A (p.Val47=) rs886062835 0.00001
NM_006329.4(FBLN5):c.*419G>C rs1451509746 0.00001
NM_006329.4(FBLN5):c.*653G>A rs886050886 0.00001
NM_006329.4(FBLN5):c.*775A>C rs886050885 0.00001
NM_006329.4(FBLN5):c.*77T>A rs1326922015 0.00001
NM_006329.4(FBLN5):c.-382C>G rs886050890 0.00001
NM_006329.4(FBLN5):c.251A>G (p.Tyr84Cys) rs886050889 0.00001
NM_006329.4(FBLN5):c.336A>G (p.Ile112Met) rs1221579102 0.00001
NM_006329.4(FBLN5):c.573A>G (p.Thr191=) rs756288143 0.00001
NM_006329.4(FBLN5):c.676G>A (p.Gly226Ser) rs747288805 0.00001
NM_006415.4(SPTLC1):c.*1226G>T rs562277733 0.00001
NM_006415.4(SPTLC1):c.*200G>T rs1057515689 0.00001
NM_006415.4(SPTLC1):c.*483A>G rs541284488 0.00001
NM_006415.4(SPTLC1):c.-27C>T rs558203491 0.00001
NM_006415.4(SPTLC1):c.661C>A (p.Leu221Ile) rs760231916 0.00001
NM_007103.4(NDUFV1):c.1017C>T (p.Phe339=) rs371426372 0.00001
NM_007103.4(NDUFV1):c.101C>T (p.Ser34Leu) rs201727252 0.00001
NM_007103.4(NDUFV1):c.1308+7A>T rs767679135 0.00001
NM_007103.4(NDUFV1):c.414G>T (p.Leu138=) rs148461900 0.00001
NM_007103.4(NDUFV1):c.530A>G (p.Tyr177Cys) rs551603121 0.00001
NM_007103.4(NDUFV1):c.606G>A (p.Gly202=) rs886048589 0.00001
NM_012073.5(CCT5):c.*1382C>T rs1222254097 0.00001
NM_012073.5(CCT5):c.*176G>C rs547909747 0.00001
NM_012073.5(CCT5):c.*25A>G rs886059755 0.00001
NM_012073.5(CCT5):c.*756C>G rs1437353746 0.00001
NM_012073.5(CCT5):c.*775C>G rs533967918 0.00001
NM_012073.5(CCT5):c.-56C>T rs770097768 0.00001
NM_012073.5(CCT5):c.-59A>G rs748544536 0.00001
NM_012073.5(CCT5):c.112A>G (p.Ile38Val) rs1191228356 0.00001
NM_012073.5(CCT5):c.1270G>T (p.Ala424Ser) rs767982457 0.00001
NM_012073.5(CCT5):c.1346G>A (p.Arg449Lys) rs762423535 0.00001
NM_012073.5(CCT5):c.1615T>C (p.Ser539Pro) rs779415398 0.00001
NM_012073.5(CCT5):c.531-10T>G rs761866534 0.00001
NM_012073.5(CCT5):c.677A>G (p.Lys226Arg) rs768757632 0.00001
NM_014317.5(PDSS1):c.*147A>G rs1836943381 0.00001
NM_014317.5(PDSS1):c.1099G>A (p.Val367Ile) rs752338178 0.00001
NM_014317.5(PDSS1):c.163-12T>C rs776345851 0.00001
NM_014317.5(PDSS1):c.279C>T (p.Thr93=) rs779303490 0.00001
NM_014317.5(PDSS1):c.592A>G (p.Ile198Val) rs1408544618 0.00001
NM_014317.5(PDSS1):c.941C>T (p.Ser314Leu) rs766516366 0.00001
NM_014317.5(PDSS1):c.97G>A (p.Gly33Arg) rs886046933 0.00001
NM_014365.3(HSPB8):c.*67T>G rs886049026 0.00001
NM_014365.3(HSPB8):c.-172G>C rs886049025 0.00001
NM_014365.3(HSPB8):c.163C>T (p.Arg55Cys) rs1011669872 0.00001
NM_014845.6(FIG4):c.-124A>G rs544958043 0.00001
NM_014845.6(FIG4):c.-134C>G rs560811735 0.00001
NM_014845.6(FIG4):c.1793T>A (p.Phe598Tyr) rs751399063 0.00001
NM_014845.6(FIG4):c.2222C>T (p.Thr741Met) rs1274229885 0.00001
NM_014845.6(FIG4):c.2552C>T (p.Pro851Leu) rs201375273 0.00001
NM_014874.4(MFN2):c.*1222G>A rs531732785 0.00001
NM_014874.4(MFN2):c.*131G>A rs1639706861 0.00001
NM_014874.4(MFN2):c.*1902C>T rs933126234 0.00001
NM_014874.4(MFN2):c.*226C>T rs184254413 0.00001
NM_014874.4(MFN2):c.*870C>T rs886045227 0.00001
NM_014874.4(MFN2):c.1806C>T (p.Ser602=) rs201258935 0.00001
NM_014874.4(MFN2):c.205G>A (p.Val69Ile) rs28940296 0.00001
NM_014874.4(MFN2):c.2204+13C>T rs200441797 0.00001
NM_015046.7(SETX):c.*13A>T rs1204954131 0.00001
NM_015046.7(SETX):c.*1420A>T rs751833631 0.00001
NM_015046.7(SETX):c.*1722A>G rs963398615 0.00001
NM_015046.7(SETX):c.*2232T>C rs545456048 0.00001
NM_015046.7(SETX):c.*2287T>C rs1842428001 0.00001
NM_015046.7(SETX):c.*869C>T rs1354270999 0.00001
NM_015046.7(SETX):c.2003A>G (p.Asn668Ser) rs780898043 0.00001
NM_015046.7(SETX):c.2278A>G (p.Thr760Ala) rs373647065 0.00001
NM_015046.7(SETX):c.2295C>A (p.Phe765Leu) rs771954896 0.00001
NM_015046.7(SETX):c.2779A>G (p.Met927Val) rs886063556 0.00001
NM_015046.7(SETX):c.2934C>T (p.Ser978=) rs144154512 0.00001
NM_015046.7(SETX):c.36T>C (p.Ala12=) rs1198947358 0.00001
NM_015046.7(SETX):c.3900C>T (p.Ser1300=) rs886063554 0.00001
NM_015046.7(SETX):c.4989T>A (p.Ser1663=) rs185338915 0.00001
NM_015046.7(SETX):c.5697G>A (p.Arg1899=) rs765849036 0.00001
NM_015046.7(SETX):c.5786C>T (p.Ala1929Val) rs200571606 0.00001
NM_015046.7(SETX):c.617A>G (p.Glu206Gly) rs759880306 0.00001
NM_015046.7(SETX):c.6313C>T (p.Arg2105Trp) rs142843968 0.00001
NM_015046.7(SETX):c.7290A>T (p.Glu2430Asp) rs912160285 0.00001
NM_015046.7(SETX):c.7771G>A (p.Ala2591Thr) rs146862359 0.00001
NM_015046.7(SETX):c.7814G>A (p.Arg2605Gln) rs543247171 0.00001
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter) rs121918241 0.00001
NM_016156.6(MTMR2):c.*1271A>G rs1863141196 0.00001
NM_016156.6(MTMR2):c.*190G>A rs886048769 0.00001
NM_016156.6(MTMR2):c.*679A>C rs776788118 0.00001
NM_016156.6(MTMR2):c.-82C>T rs886048773 0.00001
NM_016156.6(MTMR2):c.1339G>A (p.Val447Ile) rs769693714 0.00001
NM_016156.6(MTMR2):c.162C>T (p.Ala54=) rs547213836 0.00001
NM_016156.6(MTMR2):c.240A>C (p.Pro80=) rs201920176 0.00001
NM_017929.5(PEX26):c.-167C>T rs886057244 0.00001
NM_018319.3(TDP1):c.-278C>T rs886050880 0.00001
NM_018319.4(TDP1):c.*1239T>C rs1387359215 0.00001
NM_018319.4(TDP1):c.*1367A>G rs1462755052 0.00001
NM_018319.4(TDP1):c.*774G>A rs372910082 0.00001
NM_018319.4(TDP1):c.-38G>A rs1037056557 0.00001
NM_018319.4(TDP1):c.643T>C (p.Tyr215His) rs754702237 0.00001
NM_018319.4(TDP1):c.68C>T (p.Pro23Leu) rs1428279795 0.00001
NM_018319.4(TDP1):c.84A>G (p.Pro28=) rs1596498067 0.00001
NM_018319.4(TDP1):c.896del (p.Ser299fs) rs773960264 0.00001
NM_018972.2(GDAP1):c.*2542A>G rs909463010 0.00001
NM_018972.2(GDAP1):c.*2702T>C rs1809669202 0.00001
NM_018972.4(GDAP1):c.*1289T>C rs1439179536 0.00001
NM_018972.4(GDAP1):c.*1527G>A rs886063113 0.00001
NM_018972.4(GDAP1):c.*1923C>T rs886063116 0.00001
NM_018972.4(GDAP1):c.*195T>C rs1201095819 0.00001
NM_018972.4(GDAP1):c.*1968C>T rs567166158 0.00001
NM_018972.4(GDAP1):c.*1976C>T rs527937918 0.00001
NM_018972.4(GDAP1):c.*2125A>C rs1231558825 0.00001
NM_018972.4(GDAP1):c.*926C>A rs1487448268 0.00001
NM_018972.4(GDAP1):c.*961G>C rs886063110 0.00001
NM_018972.4(GDAP1):c.471T>G (p.Thr157=) rs886293648 0.00001
NM_018972.4(GDAP1):c.485-6T>C rs763802909 0.00001
NM_018979.4(WNK1):c.*2576_*2579dup rs886048832 0.00001
NM_018979.4(WNK1):c.5448+2dup rs774783305 0.00001
NM_020247.5(COQ8A):c.*150C>T rs755137919 0.00001
NM_020247.5(COQ8A):c.*184G>C rs548257684 0.00001
NM_020247.5(COQ8A):c.1343T>C (p.Val448Ala) rs750053661 0.00001
NM_020247.5(COQ8A):c.1533G>A (p.Thr511=) rs201337210 0.00001
NM_020247.5(COQ8A):c.1659+14C>T rs1444332878 0.00001
NM_020247.5(COQ8A):c.1776C>T (p.Pro592=) rs7545723 0.00001
NM_020247.5(COQ8A):c.297C>T (p.Pro99=) rs543084403 0.00001
NM_020247.5(COQ8A):c.314C>A (p.Pro105Gln) rs751042244 0.00001
NM_020247.5(COQ8A):c.358G>A (p.Val120Met) rs376347405 0.00001
NM_020247.5(COQ8A):c.854A>C (p.Asp285Ala) rs760349295 0.00001
NM_020312.4(COQ9):c.*134A>G rs886052182 0.00001
NM_020312.4(COQ9):c.*565G>T rs886052183 0.00001
NM_020312.4(COQ9):c.305G>A (p.Arg102His) rs748239782 0.00001
NM_020312.4(COQ9):c.337G>A (p.Ala113Thr) rs377307935 0.00001
NM_020312.4(COQ9):c.378+9A>G rs757816546 0.00001
NM_020312.4(COQ9):c.379-9C>T rs1189201208 0.00001
NM_020312.4(COQ9):c.679A>G (p.Met227Val) rs748648629 0.00001
NM_020631.4(PLEKHG5):c.*1016A>G rs886046488 0.00001
NM_020631.4(PLEKHG5):c.*1374C>T rs1004946332 0.00001
NM_020631.5(PLEKHG5):c.*775T>G rs886046492 0.00001
NM_020631.6(PLEKHG5):c.*192G>A rs886046495 0.00001
NM_020631.6(PLEKHG5):c.*236G>A rs1308834107 0.00001
NM_020631.6(PLEKHG5):c.-66C>T rs755086442 0.00001
NM_020631.6(PLEKHG5):c.1514C>T (p.Pro505Leu) rs770934745 0.00001
NM_020631.6(PLEKHG5):c.1552G>A (p.Val518Met) rs377602965 0.00001
NM_020631.6(PLEKHG5):c.1576A>G (p.Asn526Asp) rs774755047 0.00001
NM_020631.6(PLEKHG5):c.2249+4C>T rs751575330 0.00001
NM_020631.6(PLEKHG5):c.22C>T (p.Arg8Cys) rs754002297 0.00001
NM_020631.6(PLEKHG5):c.2332G>A (p.Gly778Ser) rs768087057 0.00001
NM_020631.6(PLEKHG5):c.2420C>T (p.Pro807Leu) rs371547045 0.00001
NM_020631.6(PLEKHG5):c.2826C>T (p.Val942=) rs749891873 0.00001
NM_020631.6(PLEKHG5):c.2952C>T (p.Thr984=) rs886046497 0.00001
NM_020631.6(PLEKHG5):c.2999C>T (p.Thr1000Met) rs781065380 0.00001
NM_021625.5(TRPV4):c.*212G>A rs886048938 0.00001
NM_021625.5(TRPV4):c.*51G>A rs886048939 0.00001
NM_021625.5(TRPV4):c.-59C>T rs1299040866 0.00001
NM_021625.5(TRPV4):c.-74G>A rs886048942 0.00001
NM_021625.5(TRPV4):c.1390C>T (p.Arg464Cys) rs373049874 0.00001
NM_021625.5(TRPV4):c.1455C>T (p.Phe485=) rs189872222 0.00001
NM_021625.5(TRPV4):c.1601T>C (p.Met534Thr) rs775011025 0.00001
NM_021625.5(TRPV4):c.1700A>T (p.Tyr567Phe) rs763889344 0.00001
NM_021625.5(TRPV4):c.2162C>G (p.Thr721Arg) rs1423138633 0.00001
NM_021625.5(TRPV4):c.2236C>G (p.Arg746Gly) rs375189134 0.00001
NM_021625.5(TRPV4):c.2439C>T (p.Thr813=) rs545589086 0.00001
NM_021625.5(TRPV4):c.2560G>A (p.Asp854Asn) rs368963822 0.00001
NM_021625.5(TRPV4):c.425C>T (p.Pro142Leu) rs1193945019 0.00001
NM_021625.5(TRPV4):c.502G>A (p.Gly168Arg) rs756559560 0.00001
NM_021625.5(TRPV4):c.622G>A (p.Asp208Asn) rs769445973 0.00001
NM_021625.5(TRPV4):c.650C>T (p.Ala217Val) rs548909101 0.00001
NM_021625.5(TRPV4):c.812G>A (p.Arg271His) rs387907219 0.00001
NM_021830.5(TWNK):c.*367A>G rs62626296 0.00001
NM_021830.5(TWNK):c.*619G>A rs886046637 0.00001
NM_021830.5(TWNK):c.*763T>C rs886046639 0.00001
NM_021830.5(TWNK):c.1172G>A (p.Arg391His) rs556445621 0.00001
NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser) rs863223921 0.00001
NM_021830.5(TWNK):c.1244-14C>T rs758757135 0.00001
NM_021830.5(TWNK):c.1488T>C (p.Thr496=) rs549767223 0.00001
NM_021830.5(TWNK):c.1853C>T (p.Pro618Leu) rs886046632 0.00001
NM_021830.5(TWNK):c.913G>A (p.Val305Ile) rs753457416 0.00001
NM_022041.4(GAN):c.*1102A>G rs1394891003 0.00001
NM_022041.4(GAN):c.*2027T>A rs886052348 0.00001
NM_022041.4(GAN):c.*2492T>A rs886052354 0.00001
NM_022041.4(GAN):c.1017G>A (p.Gln339=) rs201451382 0.00001
NM_022041.4(GAN):c.1123A>T (p.Met375Leu) rs201252856 0.00001
NM_022041.4(GAN):c.132G>A (p.Gln44=) rs774609110 0.00001
NM_022041.4(GAN):c.1398T>C (p.Val466=) rs756485979 0.00001
NM_022041.4(GAN):c.1612+4A>G rs376218401 0.00001
NM_022041.4(GAN):c.471G>A (p.Leu157=) rs143704621 0.00001
NM_022041.4(GAN):c.572A>G (p.Asn191Ser) rs139748896 0.00001
NM_022041.4(GAN):c.634-6C>T rs199874705 0.00001
NM_022041.4(GAN):c.725G>A (p.Arg242Gln) rs371906996 0.00001
NM_022041.4(GAN):c.801A>G (p.Lys267=) rs746799355 0.00001
NM_022041.4(GAN):c.806G>A (p.Arg269Gln) rs759581558 0.00001
NM_022124.6(CDH23):c.*439C>T rs140312023 0.00001
NM_022124.6(CDH23):c.9860G>A (p.Gly3287Asp) rs562590210 0.00001
NM_024407.5(NDUFS7):c.*8G>A rs756081375 0.00001
NM_024407.5(NDUFS7):c.*94G>A rs1329105128 0.00001
NM_024407.5(NDUFS7):c.21T>C (p.Pro7=) rs201222388 0.00001
NM_024407.5(NDUFS7):c.45T>G (p.Leu15=) rs1193585808 0.00001
NM_024577.3(SH3TC2):c.-77C>T rs1017906109 0.00001
NM_024577.4(SH3TC2):c.*1006C>T rs886060185 0.00001
NM_024577.4(SH3TC2):c.*10079A>G rs886060142 0.00001
NM_024577.4(SH3TC2):c.*10672A>C rs1753463315 0.00001
NM_024577.4(SH3TC2):c.*1079T>C rs1753632252 0.00001
NM_024577.4(SH3TC2):c.*10984G>T rs868782614 0.00001
NM_024577.4(SH3TC2):c.*11054G>C rs886060134 0.00001
NM_024577.4(SH3TC2):c.*11055T>C rs886060133 0.00001
NM_024577.4(SH3TC2):c.*11593G>A rs886060129 0.00001
NM_024577.4(SH3TC2):c.*12469T>A rs886060122 0.00001
NM_024577.4(SH3TC2):c.*12637A>G rs536941130 0.00001
NM_024577.4(SH3TC2):c.*13292G>T rs1347035516 0.00001
NM_024577.4(SH3TC2):c.*14628C>T rs886060118 0.00001
NM_024577.4(SH3TC2):c.*15339G>A rs886060113 0.00001
NM_024577.4(SH3TC2):c.*15385A>G rs540944260 0.00001
NM_024577.4(SH3TC2):c.*15680T>C rs886060112 0.00001
NM_024577.4(SH3TC2):c.*16720T>G rs1753361070 0.00001
NM_024577.4(SH3TC2):c.*16905T>G rs886060105 0.00001
NM_024577.4(SH3TC2):c.*1787G>C rs139566698 0.00001
NM_024577.4(SH3TC2):c.*17934T>C rs1753339081 0.00001
NM_024577.4(SH3TC2):c.*18471A>G rs1753330424 0.00001
NM_024577.4(SH3TC2):c.*20230G>T rs761890589 0.00001
NM_024577.4(SH3TC2):c.*20553A>G rs1419202542 0.00001
NM_024577.4(SH3TC2):c.*2065C>T rs190638676 0.00001
NM_024577.4(SH3TC2):c.*20787G>A rs76578570 0.00001
NM_024577.4(SH3TC2):c.*210C>A rs886060192 0.00001
NM_024577.4(SH3TC2):c.*21532C>A rs763141563 0.00001
NM_024577.4(SH3TC2):c.*2341A>G rs531168193 0.00001
NM_024577.4(SH3TC2):c.*2624A>G rs762855152 0.00001
NM_024577.4(SH3TC2):c.*281A>G rs886060191 0.00001
NM_024577.4(SH3TC2):c.*2921G>A rs1293808777 0.00001
NM_024577.4(SH3TC2):c.*3165G>A rs886060179 0.00001
NM_024577.4(SH3TC2):c.*4920T>G rs550230926 0.00001
NM_024577.4(SH3TC2):c.*5820A>G rs1309341884 0.00001
NM_024577.4(SH3TC2):c.*5933G>A rs886060165 0.00001
NM_024577.4(SH3TC2):c.*6302T>A rs545169695 0.00001
NM_024577.4(SH3TC2):c.*651C>A rs1454230507 0.00001
NM_024577.4(SH3TC2):c.*6836T>C rs757138006 0.00001
NM_024577.4(SH3TC2):c.*8313G>A rs770951592 0.00001
NM_024577.4(SH3TC2):c.*9122G>A rs1430233185 0.00001
NM_024577.4(SH3TC2):c.*9445A>G rs1422098391 0.00001
NM_024577.4(SH3TC2):c.1245G>A (p.Gly415=) rs748870159 0.00001
NM_024577.4(SH3TC2):c.1431G>A (p.Glu477=) rs887057321 0.00001
NM_024577.4(SH3TC2):c.1889C>T (p.Pro630Leu) rs749260578 0.00001
NM_024577.4(SH3TC2):c.2017G>A (p.Ala673Thr) rs201985394 0.00001
NM_024577.4(SH3TC2):c.2305G>A (p.Glu769Lys) rs764436192 0.00001
NM_024577.4(SH3TC2):c.3034C>T (p.Arg1012Trp) rs541197556 0.00001
NM_024577.4(SH3TC2):c.390C>T (p.Tyr130=) rs776623792 0.00001
NM_024577.4(SH3TC2):c.830C>T (p.Thr277Met) rs757969875 0.00001
NM_024577.4(SH3TC2):c.956G>T (p.Gly319Val) rs753423455 0.00001
NM_030962.4(SBF2):c.*1255G>A rs886048774 0.00001
NM_030962.4(SBF2):c.*1405T>C rs997066238 0.00001
NM_030962.4(SBF2):c.*1686G>A rs376521838 0.00001
NM_030962.4(SBF2):c.*19G>A rs770446132 0.00001
NM_030962.4(SBF2):c.*418T>C rs985803879 0.00001
NM_030962.4(SBF2):c.*730G>A rs886048777 0.00001
NM_030962.4(SBF2):c.*731T>A rs1239478451 0.00001
NM_030962.4(SBF2):c.-106C>T rs886047578 0.00001
NM_030962.4(SBF2):c.-27C>T rs1032915786 0.00001
NM_030962.4(SBF2):c.-49G>A rs1476971148 0.00001
NM_030962.4(SBF2):c.-64C>T rs1010047569 0.00001
NM_030962.4(SBF2):c.1024C>T (p.Arg342Ter) rs1565106242 0.00001
NM_030962.4(SBF2):c.1799G>A (p.Arg600Gln) rs185968327 0.00001
NM_030962.4(SBF2):c.1897G>A (p.Ala633Thr) rs775198025 0.00001
NM_030962.4(SBF2):c.2100+7G>A rs370918433 0.00001
NM_030962.4(SBF2):c.2600C>T (p.Pro867Leu) rs370198639 0.00001
NM_030962.4(SBF2):c.2610+11A>G rs375912268 0.00001
NM_030962.4(SBF2):c.2669G>A (p.Arg890Gln) rs755699993 0.00001
NM_030962.4(SBF2):c.3811C>T (p.Arg1271Cys) rs765001700 0.00001
NM_030962.4(SBF2):c.4733A>G (p.Lys1578Arg) rs775360425 0.00001
NM_030962.4(SBF2):c.4931G>A (p.Ser1644Asn) rs754078134 0.00001
NM_030962.4(SBF2):c.5035C>T (p.Arg1679Cys) rs79401259 0.00001
NM_030962.4(SBF2):c.5041C>T (p.Gln1681Ter) rs1343702415 0.00001
NM_030962.4(SBF2):c.5232-7C>A rs752774091 0.00001
NM_030962.4(SBF2):c.546G>T (p.Gln182His) rs886047534 0.00001
NM_030962.4(SBF2):c.942A>G (p.Pro314=) rs753903194 0.00001
NM_033305.3(VPS13A):c.*1078T>G rs951051787 0.00001
NM_033305.3(VPS13A):c.*1140A>T rs1360751714 0.00001
NM_033305.3(VPS13A):c.*663T>C rs1172989781 0.00001
NM_033305.3(VPS13A):c.1061A>G (p.His354Arg) rs202123189 0.00001
NM_033305.3(VPS13A):c.1396C>T (p.Leu466Phe) rs1042881230 0.00001
NM_033305.3(VPS13A):c.1614T>A (p.Asp538Glu) rs1238647708 0.00001
NM_033305.3(VPS13A):c.1929A>G (p.Lys643=) rs749655544 0.00001
NM_033305.3(VPS13A):c.3211A>G (p.Asn1071Asp) rs769146492 0.00001
NM_033305.3(VPS13A):c.3250A>G (p.Met1084Val) rs368157358 0.00001
NM_033305.3(VPS13A):c.3420A>G (p.Thr1140=) rs1274810899 0.00001
NM_033305.3(VPS13A):c.3813-6T>C rs1057515654 0.00001
NM_033305.3(VPS13A):c.3961T>C (p.Phe1321Leu) rs781501141 0.00001
NM_033305.3(VPS13A):c.4325A>G (p.Tyr1442Cys) rs1380006812 0.00001
NM_033305.3(VPS13A):c.4586C>G (p.Thr1529Ser) rs72744294 0.00001
NM_033305.3(VPS13A):c.4602T>C (p.Ser1534=) rs752134753 0.00001
NM_033305.3(VPS13A):c.4915C>G (p.Pro1639Ala) rs377532527 0.00001
NM_033305.3(VPS13A):c.5191A>G (p.Ile1731Val) rs1016550070 0.00001
NM_033305.3(VPS13A):c.5795C>A (p.Thr1932Asn) rs1034458059 0.00001
NM_033305.3(VPS13A):c.587A>G (p.His196Arg) rs750690177 0.00001
NM_033305.3(VPS13A):c.6131A>G (p.Tyr2044Cys) rs754391863 0.00001
NM_033305.3(VPS13A):c.6184C>T (p.Leu2062Phe) rs1830592063 0.00001
NM_033305.3(VPS13A):c.6680A>G (p.Tyr2227Cys) rs1168343737 0.00001
NM_033305.3(VPS13A):c.6906T>A (p.Ser2302Arg) rs771133301 0.00001
NM_033305.3(VPS13A):c.6978A>G (p.Ser2326=) rs192942248 0.00001
NM_033305.3(VPS13A):c.7490G>A (p.Arg2497His) rs766585218 0.00001
NM_033305.3(VPS13A):c.7811G>A (p.Arg2604His) rs762985818 0.00001
NM_033305.3(VPS13A):c.7853A>G (p.His2618Arg) rs558287069 0.00001
NM_033305.3(VPS13A):c.8649T>G (p.Phe2883Leu) rs757219762 0.00001
NM_033305.3(VPS13A):c.8668-3T>C rs774310931 0.00001
NM_033305.3(VPS13A):c.9234T>C (p.His3078=) rs766370355 0.00001
NM_033305.3(VPS13A):c.927A>G (p.Ala309=) rs749004984 0.00001
NM_078470.6(COX15):c.*1474C>T rs886046608 0.00001
NM_078470.6(COX15):c.*2701A>G rs886046602 0.00001
NM_078470.6(COX15):c.161G>A (p.Gly54Glu) rs781108007 0.00001
NM_078470.6(COX15):c.293C>T (p.Ser98Leu) rs1315877896 0.00001
NM_078470.6(COX15):c.495G>T (p.Leu165=) rs2036978379 0.00001
NM_078470.6(COX15):c.832+9C>T rs777349150 0.00001
NM_133259.4(LRPPRC):c.*1370G>A rs1319087266 0.00001
NM_133259.4(LRPPRC):c.*1719G>A rs1670288640 0.00001
NM_133259.4(LRPPRC):c.*2277A>G rs886056041 0.00001
NM_133259.4(LRPPRC):c.*420C>T rs1354819175 0.00001
NM_133259.4(LRPPRC):c.*534G>T rs553327890 0.00001
NM_133259.4(LRPPRC):c.1305T>C (p.Phe435=) rs886056059 0.00001
NM_133259.4(LRPPRC):c.1863T>G (p.Asn621Lys) rs762224854 0.00001
NM_133259.4(LRPPRC):c.1921-7A>G rs779696239 0.00001
NM_133259.4(LRPPRC):c.2216G>A (p.Arg739His) rs187274438 0.00001
NM_133259.4(LRPPRC):c.2385C>T (p.Gly795=) rs886056056 0.00001
NM_133259.4(LRPPRC):c.3364+6T>A rs543620356 0.00001
NM_133259.4(LRPPRC):c.3473T>C (p.Ile1158Thr) rs911047642 0.00001
NM_133259.4(LRPPRC):c.3641A>G (p.Gln1214Arg) rs140482502 0.00001
NM_133259.4(LRPPRC):c.3648C>T (p.Phe1216=) rs370683872 0.00001
NM_133259.4(LRPPRC):c.3737A>G (p.Asn1246Ser) rs886056054 0.00001
NM_133259.4(LRPPRC):c.8C>T (p.Ala3Val) rs886056065 0.00001
NM_153818.1(PEX10):c.-77G>T rs1257096968 0.00001
NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp) rs749784223 0.00001
NM_170707.4(LMNA):c.1358G>A (p.Arg453Gln) rs267607598 0.00001
NM_170707.4(LMNA):c.1487C>T (p.Thr496Met) rs200466188 0.00001
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) rs60864230 0.00001
NM_170707.4(LMNA):c.514-11C>T rs886045365 0.00001
NM_170707.4(LMNA):c.749C>T (p.Ala250Val) rs397517907 0.00001
NM_170707.4(LMNA):c.953C>T (p.Ala318Val) rs1212920276 0.00001
NM_170707.4(LMNA):c.985C>G (p.Arg329Gly) rs775159300 0.00001
NM_174889.5(NDUFAF2):c.100T>C (p.Tyr34His) rs773988847 0.00001
NM_174889.5(NDUFAF2):c.18T>G (p.Asp6Glu) rs886060726 0.00001
NM_181882.3(PRX):c.-100+10C>T rs2079541059 0.00001
NM_181882.3(PRX):c.-198-14C>T rs886054442 0.00001
NM_181882.3(PRX):c.1215C>T (p.Pro405=) rs377184301 0.00001
NM_181882.3(PRX):c.1777A>G (p.Met593Val) rs1389523539 0.00001
NM_181882.3(PRX):c.2283G>A (p.Pro761=) rs1340076007 0.00001
NM_181882.3(PRX):c.2536C>T (p.His846Tyr) rs765595266 0.00001
NM_181882.3(PRX):c.3401T>C (p.Val1134Ala) rs762157790 0.00001
NM_181882.3(PRX):c.3849A>G (p.Pro1283=) rs757247849 0.00001
NM_181882.3(PRX):c.3963G>A (p.Glu1321=) rs781159482 0.00001
NM_181882.3(PRX):c.4109G>A (p.Arg1370His) rs756687548 0.00001
NM_181882.3(PRX):c.575G>A (p.Arg192Gln) rs944160754 0.00001
NM_181882.3(PRX):c.732G>A (p.Ala244=) rs769735682 0.00001
NM_181882.3(PRX):c.825C>T (p.Leu275=) rs753268672 0.00001
NM_181882.3(PRX):c.944G>A (p.Arg315Gln) rs577197549 0.00001
NM_198252.3(GSN):c.*194G>A rs886063412 0.00001
NM_198252.3(GSN):c.-9-2021G>A rs886063405 0.00001
NM_198252.3(GSN):c.1009C>T (p.Leu337=) rs528161256 0.00001
NM_198252.3(GSN):c.123C>T (p.Gly41=) rs774617795 0.00001
NM_198252.3(GSN):c.163G>A (p.Gly55Arg) rs556563870 0.00001
NM_198252.3(GSN):c.1651G>A (p.Ala551Thr) rs777955781 0.00001
NM_198252.3(GSN):c.1874T>C (p.Ile625Thr) rs777767455 0.00001
NM_198252.3(GSN):c.1942A>G (p.Met648Val) rs886063406 0.00001
NM_198252.3(GSN):c.2060G>A (p.Arg687Gln) rs770023727 0.00001
NM_000081.4(LYST):c.*1211G>A
NM_000081.4(LYST):c.*1275T>C
NM_000081.4(LYST):c.*1295T>C
NM_000081.4(LYST):c.*1356G>T
NM_000081.4(LYST):c.*1379G>C
NM_000081.4(LYST):c.*1428T>G
NM_000081.4(LYST):c.*1438C>T
NM_000081.4(LYST):c.*1499G>T
NM_000081.4(LYST):c.*1533G>A
NM_000081.4(LYST):c.*1723A>G
NM_000081.4(LYST):c.*1792A>G
NM_000081.4(LYST):c.*1831A>C
NM_000081.4(LYST):c.*1861C>A
NM_000081.4(LYST):c.*191T>C
NM_000081.4(LYST):c.*246C>T
NM_000081.4(LYST):c.*247G>T
NM_000081.4(LYST):c.*275A>T
NM_000081.4(LYST):c.*319C>G
NM_000081.4(LYST):c.*329A>G
NM_000081.4(LYST):c.*446T>C
NM_000081.4(LYST):c.*519C>T
NM_000081.4(LYST):c.*5G>A
NM_000081.4(LYST):c.*685G>T
NM_000081.4(LYST):c.*694T>C
NM_000081.4(LYST):c.*712T>C
NM_000081.4(LYST):c.*725G>A
NM_000081.4(LYST):c.*809A>G
NM_000081.4(LYST):c.*824A>G
NM_000081.4(LYST):c.*831A>G
NM_000081.4(LYST):c.*873G>C
NM_000081.4(LYST):c.*891G>C
NM_000081.4(LYST):c.*907G>A
NM_000081.4(LYST):c.*921C>T
NM_000081.4(LYST):c.*94A>G
NM_000081.4(LYST):c.*962G>A
NM_000081.4(LYST):c.-131G>C
NM_000081.4(LYST):c.-134G>A
NM_000081.4(LYST):c.-134G>C
NM_000081.4(LYST):c.-136G>A
NM_000081.4(LYST):c.-139G>A
NM_000081.4(LYST):c.-140G>C
NM_000081.4(LYST):c.-142C>T
NM_000081.4(LYST):c.-7-14T>C
NM_000081.4(LYST):c.-97-13dup
NM_000081.4(LYST):c.-97-9T>G
NM_000081.4(LYST):c.10091A>G (p.Tyr3364Cys)
NM_000081.4(LYST):c.10341G>A (p.Glu3447=)
NM_000081.4(LYST):c.10414T>C (p.Tyr3472His)
NM_000081.4(LYST):c.10525C>T (p.Arg3509Trp)
NM_000081.4(LYST):c.10657A>G (p.Ser3553Gly)
NM_000081.4(LYST):c.10707T>C (p.Thr3569=)
NM_000081.4(LYST):c.10733G>T (p.Cys3578Phe)
NM_000081.4(LYST):c.10740G>A (p.Leu3580=)
NM_000081.4(LYST):c.10838A>G (p.Tyr3613Cys)
NM_000081.4(LYST):c.10940+11A>T
NM_000081.4(LYST):c.11076C>T (p.Asn3692=)
NM_000081.4(LYST):c.11122G>A (p.Val3708Met)
NM_000081.4(LYST):c.11167G>A (p.Ala3723Thr)
NM_000081.4(LYST):c.11196-15T>G
NM_000081.4(LYST):c.11229A>G (p.Arg3743=)
NM_000081.4(LYST):c.11268-17dup rs36014994
NM_000081.4(LYST):c.11268-6_11268-5del rs36014994
NM_000081.4(LYST):c.1275C>G (p.Tyr425Ter)
NM_000081.4(LYST):c.1478A>G (p.His493Arg)
NM_000081.4(LYST):c.1565C>T (p.Ser522Leu)
NM_000081.4(LYST):c.1664A>C (p.His555Pro)
NM_000081.4(LYST):c.1722A>G (p.Leu574=)
NM_000081.4(LYST):c.1725G>A (p.Ser575=)
NM_000081.4(LYST):c.1766A>G (p.Lys589Arg)
NM_000081.4(LYST):c.1853T>A (p.Leu618His)
NM_000081.4(LYST):c.1913A>G (p.Asn638Ser)
NM_000081.4(LYST):c.193-3T>C
NM_000081.4(LYST):c.1940T>G (p.Leu647Arg)
NM_000081.4(LYST):c.1975T>C (p.Cys659Arg)
NM_000081.4(LYST):c.2004C>T (p.Ser668=)
NM_000081.4(LYST):c.2009CTT[1] (p.Ser671del)
NM_000081.4(LYST):c.2168A>G (p.Asn723Ser)
NM_000081.4(LYST):c.2258G>A (p.Ser753Asn)
NM_000081.4(LYST):c.2442T>A (p.Ser814Arg)
NM_000081.4(LYST):c.2444A>G (p.His815Arg)
NM_000081.4(LYST):c.244C>T (p.Leu82=)
NM_000081.4(LYST):c.2460T>G (p.Phe820Leu)
NM_000081.4(LYST):c.2465C>T (p.Thr822Ile)
NM_000081.4(LYST):c.2630G>C (p.Gly877Ala)
NM_000081.4(LYST):c.2681A>G (p.His894Arg)
NM_000081.4(LYST):c.2687A>G (p.Asn896Ser)
NM_000081.4(LYST):c.2725G>A (p.Val909Ile)
NM_000081.4(LYST):c.2806C>A (p.Pro936Thr)
NM_000081.4(LYST):c.280A>G (p.Thr94Ala)
NM_000081.4(LYST):c.2945A>G (p.Tyr982Cys)
NM_000081.4(LYST):c.3160A>G (p.Ser1054Gly)
NM_000081.4(LYST):c.3167A>C (p.Lys1056Thr)
NM_000081.4(LYST):c.3278G>A (p.Ser1093Asn)
NM_000081.4(LYST):c.3418T>C (p.Phe1140Leu)
NM_000081.4(LYST):c.3616G>C (p.Asp1206His)
NM_000081.4(LYST):c.3697G>A (p.Glu1233Lys)
NM_000081.4(LYST):c.3712+12T>C
NM_000081.4(LYST):c.372A>G (p.Leu124=)
NM_000081.4(LYST):c.3757A>C (p.Ser1253Arg)
NM_000081.4(LYST):c.3991G>A (p.Asp1331Asn)
NM_000081.4(LYST):c.4053A>G (p.Ser1351=)
NM_000081.4(LYST):c.4258A>G (p.Ser1420Gly)
NM_000081.4(LYST):c.5023+14G>A
NM_000081.4(LYST):c.5071C>T (p.Pro1691Ser)
NM_000081.4(LYST):c.5461-14A>T
NM_000081.4(LYST):c.5488A>T (p.Thr1830Ser)
NM_000081.4(LYST):c.5507G>A (p.Arg1836Gln)
NM_000081.4(LYST):c.5583T>C (p.Ile1861=)
NM_000081.4(LYST):c.5634+11A>G
NM_000081.4(LYST):c.5676G>A (p.Met1892Ile)
NM_000081.4(LYST):c.5774G>A (p.Ser1925Asn)
NM_000081.4(LYST):c.600C>T (p.His200=)
NM_000081.4(LYST):c.6079G>C (p.Val2027Leu)
NM_000081.4(LYST):c.6122-13del rs201404906
NM_000081.4(LYST):c.6184G>A (p.Gly2062Arg)
NM_000081.4(LYST):c.6188G>A (p.Arg2063Lys)
NM_000081.4(LYST):c.6266C>G (p.Ser2089Cys)
NM_000081.4(LYST):c.643C>T (p.Pro215Ser)
NM_000081.4(LYST):c.6454A>C (p.Ser2152Arg)
NM_000081.4(LYST):c.6460G>A (p.Asp2154Asn)
NM_000081.4(LYST):c.6522T>C (p.Val2174=)
NM_000081.4(LYST):c.6548C>T (p.Ala2183Val)
NM_000081.4(LYST):c.6666C>G (p.Ser2222=)
NM_000081.4(LYST):c.6673C>T (p.Arg2225Cys)
NM_000081.4(LYST):c.6744A>G (p.Leu2248=)
NM_000081.4(LYST):c.6772G>C (p.Ala2258Pro)
NM_000081.4(LYST):c.6781C>T (p.Arg2261Cys)
NM_000081.4(LYST):c.6982G>A (p.Asp2328Asn)
NM_000081.4(LYST):c.7121G>A (p.Arg2374His)
NM_000081.4(LYST):c.7310C>G (p.Ser2437Cys)
NM_000081.4(LYST):c.7385C>A (p.Ala2462Glu)
NM_000081.4(LYST):c.7430C>T (p.Thr2477Ile)
NM_000081.4(LYST):c.7506A>C (p.Gln2502His)
NM_000081.4(LYST):c.7836A>G (p.Ser2612=)
NM_000081.4(LYST):c.7901C>T (p.Ala2634Val)
NM_000081.4(LYST):c.8152-8G>A
NM_000081.4(LYST):c.8222G>A (p.Arg2741Gln)
NM_000081.4(LYST):c.8242C>G (p.Leu2748Val)
NM_000081.4(LYST):c.8258C>T (p.Ser2753Leu)
NM_000081.4(LYST):c.8395A>G (p.Ile2799Val)
NM_000081.4(LYST):c.8503A>G (p.Thr2835Ala)
NM_000081.4(LYST):c.8535+7C>T
NM_000081.4(LYST):c.8537A>C (p.Glu2846Ala)
NM_000081.4(LYST):c.8560G>A (p.Glu2854Lys)
NM_000081.4(LYST):c.8742A>G (p.Lys2914=)
NM_000081.4(LYST):c.8801+15G>C
NM_000081.4(LYST):c.8818C>A (p.Pro2940Thr)
NM_000081.4(LYST):c.9162+11G>A
NM_000081.4(LYST):c.9162+15A>G
NM_000081.4(LYST):c.916T>G (p.Leu306Val)
NM_000081.4(LYST):c.9244T>C (p.Leu3082=)
NM_000081.4(LYST):c.9332A>G (p.Tyr3111Cys)
NM_000081.4(LYST):c.9542A>G (p.Asn3181Ser)
NM_000081.4(LYST):c.9666T>G (p.Asp3222Glu)
NM_000081.4(LYST):c.9710A>G (p.Tyr3237Cys)
NM_000081.4(LYST):c.9742G>A (p.Val3248Ile)
NM_000081.4(LYST):c.9969C>T (p.His3323=)
NM_000081.4(LYST):c.9990G>A (p.Ala3330=)
NM_000108.5(DLD):c.*1027T>G rs372098056
NM_000108.5(DLD):c.*1088A>G rs886061912
NM_000108.5(DLD):c.*1231A>G rs2032385167
NM_000108.5(DLD):c.*167T>C rs886061909
NM_000108.5(DLD):c.*374G>T rs576270082
NM_000108.5(DLD):c.*470G>A rs111619940
NM_000108.5(DLD):c.*470G>T rs111619940
NM_000108.5(DLD):c.*498T>G rs886061911
NM_000108.5(DLD):c.*898C>T rs2032373871
NM_000108.5(DLD):c.*947G>T rs7777259
NM_000108.5(DLD):c.-10C>T rs1269120569
NM_000108.5(DLD):c.1313T>C (p.Met438Thr) rs2032312825
NM_000108.5(DLD):c.1465-7C>G rs886061908
NM_000108.5(DLD):c.267+15del rs886061906
NM_000108.5(DLD):c.30C>A (p.Ser10=) rs779166996
NM_000108.5(DLD):c.520A>G (p.Ile174Val) rs2031981415
NM_000143.3(FH):c.-48G>T rs886046320
NM_000143.3(FH):c.-57C>G rs201589544
NM_000143.4(FH):c.-14G>C rs543556537
NM_000143.4(FH):c.1237-14_1237-9dup rs779985493
NM_000143.4(FH):c.1237-50TC[17] rs144131869
NM_000143.4(FH):c.1237-50TC[18] rs144131869
NM_000143.4(FH):c.1237-50TC[20] rs144131869
NM_000143.4(FH):c.1237-50TC[21] rs144131869
NM_000143.4(FH):c.1237-50TC[22] rs144131869
NM_000143.4(FH):c.1237-50TC[23] rs144131869
NM_000143.4(FH):c.1237-50TC[24] rs144131869
NM_000143.4(FH):c.1237-50TC[25] rs144131869
NM_000143.4(FH):c.1237-5_1237-4insCTCT rs886046316
NM_000143.4(FH):c.1237-9_1237-8insCTCTCT rs1553340717
NM_000143.4(FH):c.1292C>T (p.Thr431Ile) rs201005880
NM_000143.4(FH):c.1517T>G (p.Met506Arg)
NM_000143.4(FH):c.1A>C (p.Met1Leu) rs776806414
NM_000143.4(FH):c.574C>T (p.Pro192Ser) rs1573883345
NM_000143.4(FH):c.905-5T>A rs886046318
NM_000153.3(GALC):c.-31delC rs886050869
NM_000153.3(GALC):c.-73G>A rs1887315658
NM_000153.3(GALC):c.-85T>A rs886050870
NM_000153.4(GALC):c.*1584G>A rs893698376
NM_000153.4(GALC):c.*1598G>A rs574189020
NM_000153.4(GALC):c.*1625A>G rs188934153
NM_000153.4(GALC):c.*363A>G rs539617222
NM_000153.4(GALC):c.*366A>G rs1884480659
NM_000153.4(GALC):c.*375A>G rs1884480331
NM_000153.4(GALC):c.*389G>T rs1884479809
NM_000153.4(GALC):c.*455A>G rs1884476134
NM_000153.4(GALC):c.*486C>G rs1280004708
NM_000153.4(GALC):c.*499T>C rs1226531123
NM_000153.4(GALC):c.*591G>A rs886050863
NM_000153.4(GALC):c.*877T>A rs185181747
NM_000153.4(GALC):c.*994C>A rs1884455084
NM_000153.4(GALC):c.*999T>C rs1267707327
NM_000153.4(GALC):c.-68C>T rs369469562
NM_000153.4(GALC):c.1114G>T (p.Ala372Ser) rs759286485
NM_000153.4(GALC):c.1162-4del rs11300320
NM_000153.4(GALC):c.1162-4dup rs11300320
NM_000153.4(GALC):c.136G>C (p.Asp46His) rs751975987
NM_000153.4(GALC):c.1376A>G (p.His459Arg) rs755193670
NM_000153.4(GALC):c.1642A>G (p.Thr548Ala) rs886050864
NM_000153.4(GALC):c.2053C>A (p.Arg685Ser) rs756141815
NM_000153.4(GALC):c.313G>A (p.Asp105Asn) rs1361755363
NM_000153.4(GALC):c.329-10_329-8del rs770389075
NM_000153.4(GALC):c.3G>T (p.Met1Ile) rs758685128
NM_000153.4(GALC):c.41C>G (p.Ala14Gly) rs373587692
NM_000153.4(GALC):c.442+4A>G rs753169234
NM_000153.4(GALC):c.454T>C (p.Ser152Pro)
NM_000153.4(GALC):c.583-11T>C rs886050865
NM_000153.4(GALC):c.64G>C (p.Gly22Arg) rs768031195
NM_000153.4(GALC):c.752+8A>C rs750292340
NM_000158.3(GBE1):c.-195G>T rs886058904
NM_000158.4(GBE1):c.*388T>A rs1702416693
NM_000158.4(GBE1):c.*44T>A rs1702420526
NM_000158.4(GBE1):c.*494A>C rs145934828
NM_000158.4(GBE1):c.*494A>T rs145934828
NM_000158.4(GBE1):c.*523T>A rs113749146
NM_000158.4(GBE1):c.-101C>T rs886058903
NM_000158.4(GBE1):c.1070A>G (p.Asp357Gly) rs1703917500
NM_000158.4(GBE1):c.144-7T>C rs886058902
NM_000158.4(GBE1):c.1454T>C (p.Val485Ala) rs771241994
NM_000158.4(GBE1):c.1676G>T (p.Ser559Ile) rs1703085718
NM_000158.4(GBE1):c.1842T>A (p.Ile614=) rs774354874
NM_000158.4(GBE1):c.647A>G (p.Tyr216Cys) rs886058901
NM_000158.4(GBE1):c.665A>G (p.Asn222Ser) rs1350258947
NM_000158.4(GBE1):c.969T>C (p.Asp323=) rs555689284
NM_000158.4(GBE1):c.998A>G (p.Glu333Gly) rs1553684545
NM_000166.6(GJB1):c.*50G>C rs2092547330
NM_000166.6(GJB1):c.-102G>A rs753207004
NM_000166.6(GJB1):c.-17G>A rs879254047
NM_000166.6(GJB1):c.271G>A (p.Val91Met) rs756928158
NM_000166.6(GJB1):c.463C>A (p.Leu155Met) rs1057515984
NM_000182.4(HADHA):c.-37T>C rs528818728
NM_000182.5(HADHA):c.*103A>T rs1360388686
NM_000182.5(HADHA):c.*202G>A rs7260
NM_000182.5(HADHA):c.*373GT[1] rs886055861
NM_000182.5(HADHA):c.*389C>G rs886055860
NM_000182.5(HADHA):c.*458TG[3] rs146500488
NM_000182.5(HADHA):c.*46G>A rs367911534
NM_000182.5(HADHA):c.*489G>A rs886055857
NM_000182.5(HADHA):c.*494G>T rs886055856
NM_000182.5(HADHA):c.*59C>T rs1669485295
NM_000182.5(HADHA):c.16G>C (p.Ala6Pro) rs150565988
NM_000182.5(HADHA):c.454-13C>T rs367636661
NM_000182.5(HADHA):c.676+6T>C rs886055863
NM_000182.5(HADHA):c.932G>C (p.Gly311Ala) rs886055862
NM_000217.3(KCNA1):c.*1236T>G rs1232377701
NM_000217.3(KCNA1):c.*1832G>C rs1947373820
NM_000217.3(KCNA1):c.*1865C>G rs1947374009
NM_000217.3(KCNA1):c.*1977C>T rs1056300520
NM_000217.3(KCNA1):c.*2286A>C rs759796830
NM_000217.3(KCNA1):c.*2333G>A rs2109420
NM_000217.3(KCNA1):c.*2734G>A rs115244229
NM_000217.3(KCNA1):c.*2758G>A rs886049525
NM_000217.3(KCNA1):c.*3166G>C rs1947383909
NM_000217.3(KCNA1):c.*3176A>T rs181233186
NM_000217.3(KCNA1):c.*3225G>A rs777765225
NM_000217.3(KCNA1):c.*3225G>C rs777765225
NM_000217.3(KCNA1):c.*3316T>C rs886049529
NM_000217.3(KCNA1):c.*3495G>C rs886049530
NM_000217.3(KCNA1):c.*3728T>G rs1477699046
NM_000217.3(KCNA1):c.*4152A>G rs886049531
NM_000217.3(KCNA1):c.*4177C>T rs886049532
NM_000217.3(KCNA1):c.*4432T>C rs1947391540
NM_000217.3(KCNA1):c.*4477A>G rs191491257
NM_000217.3(KCNA1):c.*4718C>T rs886049536
NM_000217.3(KCNA1):c.*4957C>A rs549454829
NM_000217.3(KCNA1):c.*4972C>T rs1291672801
NM_000217.3(KCNA1):c.*5106C>G rs886049538
NM_000217.3(KCNA1):c.*5136A>G rs886049540
NM_000217.3(KCNA1):c.*5279C>T rs886049542
NM_000217.3(KCNA1):c.*804C>A rs886049517
NM_000217.3(KCNA1):c.-1034C>T rs886049499
NM_000217.3(KCNA1):c.-1040G>T rs886049498
NM_000217.3(KCNA1):c.-143C>T rs1161594342
NM_000217.3(KCNA1):c.-157T>A rs534276633
NM_000217.3(KCNA1):c.-196C>T rs1947348004
NM_000217.3(KCNA1):c.-230C>G rs886049507
NM_000217.3(KCNA1):c.-27C>T rs886049508
NM_000217.3(KCNA1):c.-482G>C rs886049505
NM_000217.3(KCNA1):c.-487A>G rs886049504
NM_000217.3(KCNA1):c.-530A>G rs1947345310
NM_000217.3(KCNA1):c.-628C>G rs947561515
NM_000217.3(KCNA1):c.-684G>T rs886049502
NM_000217.3(KCNA1):c.-968C>T rs886049500
NM_000217.3(KCNA1):c.212G>A (p.Arg71His) rs1947351910
NM_000217.3(KCNA1):c.274A>G (p.Ile92Val) rs962399769
NM_000217.3(KCNA1):c.317T>C (p.Val106Ala) rs886049510
NM_000217.3(KCNA1):c.412A>C (p.Lys138Gln) rs886049511
NM_000217.3(KCNA1):c.446A>G (p.Tyr149Cys) rs1947353699
NM_000253.4(MTTP):c.-149C>A rs886058955
NM_000274.4(OAT):c.*275A>G rs886046808
NM_000274.4(OAT):c.-30+11G>A rs886046811
NM_000274.4(OAT):c.-59G>C rs144950523
NM_000274.4(OAT):c.-66A>G rs1387021384
NM_000274.4(OAT):c.110C>T (p.Pro37Leu) rs747742850
NM_000274.4(OAT):c.1138A>G (p.Ile380Val) rs545710763
NM_000274.4(OAT):c.123T>C (p.Asp41=) rs376051303
NM_000274.4(OAT):c.1261A>G (p.Lys421Glu) rs1434415037
NM_000274.4(OAT):c.192_193del (p.Gly65fs) rs386833600
NM_000274.4(OAT):c.494A>C (p.Lys165Thr) rs1951665737
NM_000274.4(OAT):c.521-15_521-12del rs376636397
NM_000274.4(OAT):c.533G>C (p.Trp178Ser) rs267606923
NM_000274.4(OAT):c.604C>A (p.Pro202Thr) rs868567649
NM_000274.4(OAT):c.648+13C>A rs779470531
NM_000274.4(OAT):c.911T>A (p.Val304Glu) rs886046810
NM_000284.4(PDHA1):c.*1013C>A rs1042456
NM_000284.4(PDHA1):c.*110C>T rs709610
NM_000284.4(PDHA1):c.*1624T>C rs2063283398
NM_000284.4(PDHA1):c.*198G>A rs1003909173
NM_000284.4(PDHA1):c.*525C>G rs778207227
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs) rs606231189
NM_000284.4(PDHA1):c.214C>T (p.Arg72Cys) rs863224148
NM_000284.4(PDHA1):c.379C>T (p.Arg127Trp) rs199959402
NM_000286.3(PEX12):c.*474A>G rs886052828
NM_000286.3(PEX12):c.*520A>G rs1298505668
NM_000286.3(PEX12):c.*550_*552del rs147182821
NM_000286.3(PEX12):c.*569_*570del rs3031851
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.*880_*883del rs35050283
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_000286.3(PEX12):c.730_733dup (p.Leu245fs) rs61752107
NM_000287.4(PEX6):c.*368G>A rs866465109
NM_000287.4(PEX6):c.*407T>G rs886061409
NM_000287.4(PEX6):c.*438TAAA[1] rs144286892
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.1234-8_1234-7dup rs200121485
NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs) rs267608216
NM_000287.4(PEX6):c.1415C>T (p.Pro472Leu) rs1769951744
NM_000287.4(PEX6):c.170T>C (p.Leu57Pro) rs61752140
NM_000287.4(PEX6):c.235G>A (p.Ala79Thr) rs61752141
NM_000287.4(PEX6):c.235G>C (p.Ala79Pro) rs61752141
NM_000287.4(PEX6):c.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_000288.4(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.*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.-65A>T rs190537612
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_000304.4(PMP22):c.*105CAAAC[2] rs112829799
NM_000304.4(PMP22):c.*376C>T rs575964802
NM_000304.4(PMP22):c.*525CT[1] rs71699667
NM_000304.4(PMP22):c.*596G>T rs1205135654
NM_000304.4(PMP22):c.*63A>C rs1906244590
NM_000304.4(PMP22):c.*818T>C rs529200588
NM_000304.4(PMP22):c.*911C>T rs1015965333
NM_000304.4(PMP22):c.*961C>G rs760879114
NM_000304.4(PMP22):c.266C>A (p.Thr89Asn) rs189205303
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.*103C>G rs529963492
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_000370.3(TTPA):c.*1135T>C rs886063062
NM_000370.3(TTPA):c.*1164A>T rs886063061
NM_000370.3(TTPA):c.*1176ATA[1] rs548084272
NM_000370.3(TTPA):c.*1247A>G rs1277245038
NM_000370.3(TTPA):c.*1394A>G rs886063060
NM_000370.3(TTPA):c.*1424C>T rs577649057
NM_000370.3(TTPA):c.*1469ATAA[3] rs773557348
NM_000370.3(TTPA):c.*1598C>T rs886063059
NM_000370.3(TTPA):c.*265T>C rs1805296752
NM_000370.3(TTPA):c.*452T>C rs886063066
NM_000370.3(TTPA):c.*496T>G rs565583075
NM_000370.3(TTPA):c.*576_*578del rs10543235
NM_000370.3(TTPA):c.*595C>G rs760669854
NM_000370.3(TTPA):c.*817G>A rs975457415
NM_000370.3(TTPA):c.*932G>A rs547975805
NM_000370.3(TTPA):c.144C>G (p.Thr48=) rs1805743504
NM_000370.3(TTPA):c.359-3del rs398123340
NM_000370.3(TTPA):c.36G>T (p.Pro12=) rs773911591
NM_000370.3(TTPA):c.815G>T (p.Ser272Ile) rs1233515069
NM_000371.3(TTR):c.-102G>T rs967658213
NM_000371.4(TTR):c.11_13dup (p.His4dup) rs747545126
NM_000371.4(TTR):c.200+1G>A rs1567945731
NM_000371.4(TTR):c.239C>G (p.Thr80Ser) rs1254341785
NM_000371.4(TTR):c.382G>A (p.Ala128Thr) rs2073528679
NM_000371.4(TTR):c.432_437del (p.Asn144_Pro145del) rs886053745
NM_000384.3(APOB):c.12088-23dup rs751121092
NM_000384.3(APOB):c.2917C>A (p.Leu973Met) rs886055592
NM_000384.3(APOB):c.3595G>A (p.Asp1199Asn) rs375894411
NM_000384.3(APOB):c.6936_6937inv (p.Ile2313Val)
NM_000384.3(APOB):c.7405T>A (p.Phe2469Ile) rs768221258
NM_000399.5(EGR2):c.*1028A>G rs886047086
NM_000399.5(EGR2):c.*1080G>A rs886047085
NM_000399.5(EGR2):c.*145T>A rs886047091
NM_000399.5(EGR2):c.*150A>G rs1055794746
NM_000399.5(EGR2):c.*230G>T rs1842147977
NM_000399.5(EGR2):c.*456G>A rs886047090
NM_000399.5(EGR2):c.*814_*816del rs886047088
NM_000399.5(EGR2):c.-293ACTG[1] rs886047096
NM_000399.5(EGR2):c.-299G>A rs1842269401
NM_000399.5(EGR2):c.-64A>C rs1842261380
NM_000399.5(EGR2):c.1352G>T (p.Gly451Val) rs138967272
NM_000399.5(EGR2):c.1360T>G (p.Cys454Gly) rs886047092
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.1142C>A (p.Ala381Asp) rs73404416
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_000487.6(ARSA):c.*1012C>T rs886057650
NM_000487.6(ARSA):c.*1049T>A rs868511268
NM_000487.6(ARSA):c.*1062dup rs763817529
NM_000487.6(ARSA):c.*1073G>T rs185955658
NM_000487.6(ARSA):c.*1157G>T rs775298785
NM_000487.6(ARSA):c.*1206G>T rs867069706
NM_000487.6(ARSA):c.*1238T>G rs6010033
NM_000487.6(ARSA):c.*125C>G rs886057656
NM_000487.6(ARSA):c.*1267C>T rs886057648
NM_000487.6(ARSA):c.*127A>T rs977218325
NM_000487.6(ARSA):c.*130C>A rs886057655
NM_000487.6(ARSA):c.*1351C>G rs131717
NM_000487.6(ARSA):c.*1372G>A rs190478606
NM_000487.6(ARSA):c.*1372G>T rs190478606
NM_000487.6(ARSA):c.*1404dup rs746677403
NM_000487.6(ARSA):c.*1475C>G rs184515588
NM_000487.6(ARSA):c.*1477C>T rs2082619608
NM_000487.6(ARSA):c.*1576A>C rs886057647
NM_000487.6(ARSA):c.*1617G>A rs886057646
NM_000487.6(ARSA):c.*1627G>C rs886057645
NM_000487.6(ARSA):c.*165G>A rs144366706
NM_000487.6(ARSA):c.*1825C>T rs2082615571
NM_000487.6(ARSA):c.*2023G>C rs886057642
NM_000487.6(ARSA):c.*2065C>T rs776085194
NM_000487.6(ARSA):c.*2088CCT[1] rs886057641
NM_000487.6(ARSA):c.*2134C>A rs911625206
NM_000487.6(ARSA):c.*2205A>T rs886057640
NM_000487.6(ARSA):c.*2283A>G rs2082610056
NM_000487.6(ARSA):c.*389A>G rs547501508
NM_000487.6(ARSA):c.*413T>G rs986551305
NM_000487.6(ARSA):c.*624G>T rs2082632282
NM_000487.6(ARSA):c.*643T>C rs886057653
NM_000487.6(ARSA):c.*777C>G rs115593886
NM_000487.6(ARSA):c.*874T>C rs886057651
NM_000487.6(ARSA):c.-20G>C rs886057659
NM_000487.6(ARSA):c.-343C>T rs1028447908
NM_000487.6(ARSA):c.-362G>C rs886057662
NM_000487.6(ARSA):c.1114C>T (p.Arg372Trp) rs74315476
NM_000487.6(ARSA):c.1210+13C>T rs6151426
NM_000487.6(ARSA):c.1434G>C (p.Gln478His) rs769169905
NM_000487.6(ARSA):c.151C>G (p.Leu51Val) rs1348625953
NM_000487.6(ARSA):c.296G>A (p.Arg99Gln) rs759295985
NM_000487.6(ARSA):c.495G>A (p.Pro165=) rs145299072
NM_000487.6(ARSA):c.778G>T (p.Val260Leu) rs2082674602
NM_000487.6(ARSA):c.884G>A (p.Gly295Asp) rs199476387
NM_000520.6(HEXA):c.*200T>C rs886051461
NM_000520.6(HEXA):c.1421+15G>C rs185764548
NM_000521.3(HEXB):c.-63G>A rs1748827834
NM_000521.4(HEXB):c.*82_*83del rs56312827
NM_000521.4(HEXB):c.1613+14del rs754704434
NM_000521.4(HEXB):c.669G>A (p.Leu223=) rs773385077
NM_000521.4(HEXB):c.670-14_670-13del rs886060751
NM_000521.4(HEXB):c.78G>A (p.Met26Ile) rs886060750
NM_000530.8(MPZ):c.*251C>G rs772995394
NM_000530.8(MPZ):c.*360C>G rs6682046
NM_000530.8(MPZ):c.*858T>C rs886045473
NM_000530.8(MPZ):c.*901GA[7] rs149030537
NM_000530.8(MPZ):c.*954C>A rs372340608
NM_000530.8(MPZ):c.-49C>A rs750777955
NM_000530.8(MPZ):c.184A>G (p.Ile62Val) rs121913602
NM_000530.8(MPZ):c.444A>T (p.Glu148Asp) rs1670257548
NM_000530.8(MPZ):c.515T>C (p.Leu172Pro) rs886045475
NM_000784.3(CYP27A1):c.-182C>T rs886055628
NM_000784.3(CYP27A1):c.-357dup rs397795841
NM_000784.4(CYP27A1):c.*153G>C rs886055631
NM_000784.4(CYP27A1):c.*209G>A rs540140393
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser) rs72551323
NM_000784.4(CYP27A1):c.1514C>T (p.Thr505Met) rs76822427
NM_000784.4(CYP27A1):c.1559A>C (p.Lys520Thr) rs1943774432
NM_000784.4(CYP27A1):c.309G>A (p.Gln103=) rs1306558952
NM_000784.4(CYP27A1):c.344A>G (p.Glu115Gly) rs1943690611
NM_000784.4(CYP27A1):c.398G>A (p.Trp133Ter) rs1559391480
NM_000784.4(CYP27A1):c.447-3C>T rs770217459
NM_000784.4(CYP27A1):c.491G>A (p.Arg164Gln) rs148417330
NM_000784.4(CYP27A1):c.506C>T (p.Ala169Val) rs59443548
NM_000784.4(CYP27A1):c.526del (p.Asp176fs) rs765512351
NM_000784.4(CYP27A1):c.586_587del (p.Ser196fs) rs758739930
NM_000784.4(CYP27A1):c.885C>T (p.Ala295=) rs1943740072
NM_000925.4(PDHB):c.*160A>G rs2062883381
NM_000925.4(PDHB):c.*328A>G rs2062880125
NM_000925.4(PDHB):c.*366_*367insAA rs886058775
NM_000925.4(PDHB):c.*92C>A rs4228
NM_000925.4(PDHB):c.249T>C (p.Ile83=) rs886058779
NM_000925.4(PDHB):c.640C>T (p.Pro214Ser) rs886058778
NM_000925.4(PDHB):c.710T>A (p.Ile237Lys) rs779577082
NM_000925.4(PDHB):c.793-19_793-14del rs759146810
NM_000925.4(PDHB):c.93G>T (p.Leu31=) rs886058780
NM_000925.4(PDHB):c.96+12G>A rs773433623
NM_001003800.2(BICD2):c.1489_1491delinsTCA (p.Glu497Ser)
NM_001005361.3(DNM2):c.*166G>A rs886054145
NM_001005361.3(DNM2):c.*22C>T rs531170486
NM_001005361.3(DNM2):c.*35C>G rs199700849
NM_001005361.3(DNM2):c.*379C>T rs953057550
NM_001005361.3(DNM2):c.*386G>C rs74952080
NM_001005361.3(DNM2):c.*550G>A rs886054148
NM_001005361.3(DNM2):c.*711T>C rs886054149
NM_001005361.3(DNM2):c.*716C>T rs2073353055
NM_001005361.3(DNM2):c.*751T>A rs2073354083
NM_001005361.3(DNM2):c.-122G>A rs886054139
NM_001005361.3(DNM2):c.-19G>T rs753599004
NM_001005361.3(DNM2):c.1354T>G (p.Leu452Val) rs770599060
NM_001005361.3(DNM2):c.1372C>A (p.Arg458=) rs745748213
NM_001005361.3(DNM2):c.1493A>G (p.Asn498Ser) rs886054140
NM_001005361.3(DNM2):c.162-7C>A rs148318860
NM_001005361.3(DNM2):c.2194G>A (p.Ala732Thr) rs1360529572
NM_001005361.3(DNM2):c.2358C>A (p.Gly786=) rs2073288383
NM_001005361.3(DNM2):c.2432C>T (p.Ser811Phe) rs2073292307
NM_001005361.3(DNM2):c.2438C>T (p.Pro813Leu) rs1382688319
NM_001005361.3(DNM2):c.2561C>T (p.Ala854Val) rs776073354
NM_001005361.3(DNM2):c.625C>T (p.Leu209=) rs927749691
NM_001005361.3(DNM2):c.823C>A (p.Pro275Thr) rs2071432774
NM_001005373.4(LRSAM1):c.*105del rs200242834
NM_001005373.4(LRSAM1):c.*392G>T rs1371405396
NM_001005373.4(LRSAM1):c.*501C>T rs886063460
NM_001005373.4(LRSAM1):c.*552A>G rs1836474069
NM_001005373.4(LRSAM1):c.-189+110G>A rs886063451
NM_001005373.4(LRSAM1):c.-189+120_-189+122del rs749626964
NM_001005373.4(LRSAM1):c.-308G>A rs3808832
NM_001005373.4(LRSAM1):c.-35C>T rs989000729
NM_001005373.4(LRSAM1):c.1035C>T (p.Asp345=) rs766701971
NM_001005373.4(LRSAM1):c.1347+6C>T rs1588128875
NM_001005373.4(LRSAM1):c.1351G>A (p.Ala451Thr) rs202166023
NM_001005373.4(LRSAM1):c.1930G>T (p.Gly644Cys) rs201284198
NM_001005373.4(LRSAM1):c.2115C>T (p.Thr705=) rs1410005477
NM_001005373.4(LRSAM1):c.2134G>A (p.Asp712Asn) rs1351504702
NM_001005373.4(LRSAM1):c.528G>A (p.Glu176=) rs1564255509
NM_001005373.4(LRSAM1):c.593C>A (p.Ala198Glu) rs758867006
NM_001005373.4(LRSAM1):c.615C>G (p.Cys205Trp) rs886063455
NM_001005373.4(LRSAM1):c.643C>A (p.Pro215Thr) rs765389102
NM_001005373.4(LRSAM1):c.706G>A (p.Asp236Asn) rs551957380
NM_001031710.3(KLHL7):c.944del (p.Ser315fs) rs2128469474
NM_001034850.2(RETREG1):c.-62C>A rs1459602794
NM_001034850.3(RETREG1):c.*1035T>C rs527314474
NM_001034850.3(RETREG1):c.*1160T>C rs886060390
NM_001034850.3(RETREG1):c.*123T>G rs886060393
NM_001034850.3(RETREG1):c.*1653G>A rs1738371371
NM_001034850.3(RETREG1):c.*219A>G rs372254630
NM_001034850.3(RETREG1):c.*455dup rs140982908
NM_001034850.3(RETREG1):c.*55del rs374572858
NM_001034850.3(RETREG1):c.*581T>C rs1055493479
NM_001034850.3(RETREG1):c.*71dup rs200951949
NM_001034850.3(RETREG1):c.*913G>T rs886060391
NM_001034850.3(RETREG1):c.1089T>C (p.Asp363=) rs200156015
NM_001034850.3(RETREG1):c.10C>T (p.Pro4Ser) rs1420598605
NM_001034850.3(RETREG1):c.1300C>G (p.Gln434Glu) rs886060394
NM_001034850.3(RETREG1):c.160G>A (p.Gly54Arg) rs1743528602
NM_001034850.3(RETREG1):c.22G>A (p.Glu8Lys) rs759050645
NM_001034850.3(RETREG1):c.295T>C (p.Phe99Leu) rs1743520200
NM_001034850.3(RETREG1):c.670+8T>C rs1229368332
NM_001034850.3(RETREG1):c.6G>A (p.Ala2=) rs750740230
NM_001034850.3(RETREG1):c.76_81dup (p.Ser26_Pro27dup) rs886060397
NM_001034850.3(RETREG1):c.953C>A (p.Thr318Asn) rs368457852
NM_001034850.3(RETREG1):c.953C>T (p.Thr318Ile) rs368457852
NM_001042472.2(ABHD12):c.-260G>A rs886056566
NM_001042472.3(ABHD12):c.*321G>T rs534140287
NM_001042472.3(ABHD12):c.*331G>C rs927058842
NM_001042472.3(ABHD12):c.*414del rs886056561
NM_001042472.3(ABHD12):c.*45G>C rs200450758
NM_001042472.3(ABHD12):c.-40_-39insGGCGGAGGC rs3833297
NM_001042472.3(ABHD12):c.26C>T (p.Ala9Val) rs776381886
NM_001042472.3(ABHD12):c.542+6G>A rs752298031
NM_001042472.3(ABHD12):c.792G>T (p.Thr264=) rs911558545
NM_001079866.2(BCS1L):c.-43G>A rs145989550
NM_001079866.2(BCS1L):c.-53G>T rs886055624
NM_001079866.2(BCS1L):c.112C>G (p.Leu38Val) rs886055626
NM_001079866.2(BCS1L):c.566A>G (p.Asn189Ser) rs1939494232
NM_001079866.2(BCS1L):c.628G>A (p.Asp210Asn) rs58447305
NM_001113491.2(SEPTIN9):c.*1012G>T rs897554465
NM_001113491.2(SEPTIN9):c.*1124C>T rs2040429452
NM_001113491.2(SEPTIN9):c.*1314C>A rs1315561699
NM_001113491.2(SEPTIN9):c.*1463G>T rs557737230
NM_001113491.2(SEPTIN9):c.*15A>C rs759620828
NM_001113491.2(SEPTIN9):c.*20C>A rs373598188
NM_001113491.2(SEPTIN9):c.*2C>T rs371665779
NM_001113491.2(SEPTIN9):c.*56A>C rs1207223792
NM_001113491.2(SEPTIN9):c.*573C>G rs527593353
NM_001113491.2(SEPTIN9):c.*647G>A rs188932761
NM_001113491.2(SEPTIN9):c.*647G>C rs188932761
NM_001113491.2(SEPTIN9):c.*732G>C rs773550651
NM_001113491.2(SEPTIN9):c.*867G>A rs886053494
NM_001113491.2(SEPTIN9):c.*911C>T rs992905068
NM_001113491.2(SEPTIN9):c.1124+8C>T rs775763949
NM_001113491.2(SEPTIN9):c.202G>A (p.Val68Met) rs11537706
NM_001113491.2(SEPTIN9):c.76+12793G>A rs367749793
NM_001113491.2(SEPTIN9):c.819G>A (p.Pro273=) rs751622773
NM_001122955.4(BSCL2):c.1167C>T (p.Ser389=) rs17850877
NM_001122955.4(BSCL2):c.424A>G (p.Thr142Ala) rs1565150951
NM_001122955.4(BSCL2):c.544C>A (p.Pro182Thr) rs886048442
NM_001122955.4(BSCL2):c.745G>T (p.Ala249Ser) rs10776
NM_001122955.4(BSCL2):c.810C>T (p.Arg270=) rs998498207
NM_001122955.4(BSCL2):c.88-613G>A rs112877243
NM_001122955.4(BSCL2):c.88-620A>C rs886048443
NM_001122955.4(BSCL2):c.88-663G>A rs117862461
NM_001127173.3(CADM3):c.1000G>T (p.Gly334Cys)
NM_001127649.3(PEX26):c.*112C>T rs761715161
NM_001127649.3(PEX26):c.*1136G>A rs886057251
NM_001127649.3(PEX26):c.*1283C>T rs73876563
NM_001127649.3(PEX26):c.*1488T>C rs1926993079
NM_001127649.3(PEX26):c.*1532_*1535dup rs361782
NM_001127649.3(PEX26):c.*1623GTTT[7] rs375436648
NM_001127649.3(PEX26):c.*1639G>T rs12484897
NM_001127649.3(PEX26):c.*1661_*1662insACTC rs361571
NM_001127649.3(PEX26):c.*1740C>G rs139987168
NM_001127649.3(PEX26):c.*1859A>C rs146739242
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.*2703G>A rs186314626
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>G rs362057
NM_001127649.3(PEX26):c.*829A>T rs362057
NM_001127649.3(PEX26):c.*944C>A rs78412274
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.2T>C (p.Met1Thr) rs74315506
NM_001127649.3(PEX26):c.625G>T (p.Glu209Ter) rs886057246
NM_001127649.3(PEX26):c.814+15C>T rs1926797835
NM_001130823.3(DNMT1):c.*18C>A rs778467461
NM_001130823.3(DNMT1):c.*18C>T rs778467461
NM_001130823.3(DNMT1):c.*34A>C rs1416080045
NM_001130823.3(DNMT1):c.-34C>G rs112908248
NM_001130823.3(DNMT1):c.1009-8C>G rs766626750
NM_001130823.3(DNMT1):c.1171-7C>T rs1168540279
NM_001130823.3(DNMT1):c.1191G>A (p.Leu397=) rs1599371468
NM_001130823.3(DNMT1):c.2100G>A (p.Gln700=) rs2038347997
NM_001130823.3(DNMT1):c.3294C>G (p.Arg1098=) rs775786809
NM_001130823.3(DNMT1):c.3580C>T (p.Arg1194Trp) rs1255153711
NM_001130823.3(DNMT1):c.3948+4G>A rs774356396
NM_001130823.3(DNMT1):c.410C>T (p.Thr137Met) rs377146699
NM_001136472.2(LITAF):c.*1217A>C rs942172049
NM_001136472.2(LITAF):c.*1386G>A rs184312185
NM_001136472.2(LITAF):c.*1399C>A rs774513067
NM_001136472.2(LITAF):c.*1436T>G rs2064132273
NM_001136472.2(LITAF):c.*1557C>A rs886051647
NM_001136472.2(LITAF):c.*234C>A rs1370604103
NM_001136472.2(LITAF):c.*294A>T rs886051651
NM_001136472.2(LITAF):c.*33G>A rs766852963
NM_001136472.2(LITAF):c.*453C>A rs192516633
NM_001136472.2(LITAF):c.*563A>C rs2064145331
NM_001136472.2(LITAF):c.*582dup rs71406254
NM_001136472.2(LITAF):c.*723A>G rs886051650
NM_001136472.2(LITAF):c.*816dup rs758850868
NM_001136472.2(LITAF):c.*949A>G rs886051649
NM_001136472.2(LITAF):c.-6+513G>C rs2064807880
NM_001136472.2(LITAF):c.-6+618C>G rs962811879
NM_001136472.2(LITAF):c.158G>C (p.Gly53Ala) rs886051654
NM_001136472.2(LITAF):c.159G>A (p.Gly53=) rs886051653
NM_001136472.2(LITAF):c.368G>A (p.Cys123Tyr) rs2064215812
NM_001190836.2(DCTN1):c.-18-2073C>T rs566961027
NM_001195248.2(APTX):c.*851_*852del rs377365362
NM_001195248.2(APTX):c.484-25_484-5del rs200922655
NM_001195248.2(APTX):c.742T>C (p.Leu248=) rs141195622
NM_001195248.2(APTX):c.771-12dup rs34600530
NM_001244008.2(KIF1A):c.*1972del rs886055831
NM_001244008.2(KIF1A):c.*249dup rs886055835
NM_001244008.2(KIF1A):c.5064G>A (p.Pro1688=) rs527977882
NM_001257988.1(TYMP):c.-185C>G rs886057637
NM_001301365.1(LYST):c.-98+16250G>C
NM_001303.3(COX10):c.-170C>G rs886052597
NM_001303.4(COX10):c.*1032T>A rs1906768949
NM_001303.4(COX10):c.*1367G>A rs555512140
NM_001303.4(COX10):c.*1383G>A rs145948022
NM_001303.4(COX10):c.*150_*152del rs200239586
NM_001303.4(COX10):c.*151_*152del rs200239586
NM_001303.4(COX10):c.*408G>A rs886052603
NM_001303.4(COX10):c.*539C>A rs1906754704
NM_001303.4(COX10):c.*628C>G rs886052607
NM_001303.4(COX10):c.*646C>A rs7214082
NM_001303.4(COX10):c.*646C>G rs7214082
NM_001303.4(COX10):c.*720G>A rs1174121283
NM_001303.4(COX10):c.*831CT[1] rs397763766
NM_001303.4(COX10):c.-40G>A rs376921957
NM_001303.4(COX10):c.-89G>C rs188803165
NM_001303.4(COX10):c.-89G>T rs188803165
NM_001303.4(COX10):c.-90G>T rs886052598
NM_001303.4(COX10):c.1096G>T (p.Val366Leu) rs111541535
NM_001303.4(COX10):c.123G>A (p.Arg41=) rs886052599
NM_001303.4(COX10):c.1305C>T (p.Gly435=) rs199737206
NM_001303.4(COX10):c.64T>A (p.Trp22Arg) rs540737897
NM_001303.4(COX10):c.675G>T (p.Pro225=) rs199609301
NM_001303.4(COX10):c.929-9_929-7dup rs144296730
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.*1134dup rs11448434
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.*628G>A rs12316371
NM_001351132.2(PEX5):c.*628G>C rs12316371
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+151G>A rs146875386
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.-20C>G rs12227917
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_001358921.2(COQ2):c.*348dup rs542593202
NM_001358921.2(COQ2):c.138dup (p.Ala47fs) rs759310292
NM_001365536.1(SCN9A):c.*1014G>A rs200393413
NM_001365536.1(SCN9A):c.*1422T>C rs1693272137
NM_001365536.1(SCN9A):c.*1643T>C rs1693265771
NM_001365536.1(SCN9A):c.*1660G>A rs16851753
NM_001365536.1(SCN9A):c.*1735C>A rs1693263246
NM_001365536.1(SCN9A):c.*2154C>G rs17804037
NM_001365536.1(SCN9A):c.*226A>C rs886055048
NM_001365536.1(SCN9A):c.*237C>G rs16851755
NM_001365536.1(SCN9A):c.*237C>T rs16851755
NM_001365536.1(SCN9A):c.*2677T>C rs1472041217
NM_001365536.1(SCN9A):c.*2928G>A rs199559478
NM_001365536.1(SCN9A):c.*2945C>A rs1693226507
NM_001365536.1(SCN9A):c.*3102C>T rs182687583
NM_001365536.1(SCN9A):c.*3282A>C rs139483482
NM_001365536.1(SCN9A):c.*900T>C rs200829562
NM_001365536.1(SCN9A):c.*920T>A rs201424899
NM_001365536.1(SCN9A):c.-290T>C rs148362057
NM_001365536.1(SCN9A):c.-92G>T rs569406301
NM_001365536.1(SCN9A):c.1014T>G (p.Asp338Glu) rs886055056
NM_001365536.1(SCN9A):c.1094A>G (p.Asn365Ser) rs886055055
NM_001365536.1(SCN9A):c.1139T>A (p.Ile380Asn) rs188798505
NM_001365536.1(SCN9A):c.1207A>C (p.Met403Leu) rs746956041
NM_001365536.1(SCN9A):c.1828C>A (p.Pro610Thr) rs41268673
NM_001365536.1(SCN9A):c.1998G>C (p.Lys666Asn) rs369989247
NM_001365536.1(SCN9A):c.2239G>C (p.Asp747His) rs1486841808
NM_001365536.1(SCN9A):c.2240A>T (p.Asp747Val) rs201744417
NM_001365536.1(SCN9A):c.238C>T (p.Pro80Ser) rs768587771
NM_001365536.1(SCN9A):c.274A>T (p.Asn92Tyr) rs747265095
NM_001365536.1(SCN9A):c.2916T>C (p.Ser972=) rs886055054
NM_001365536.1(SCN9A):c.3265G>A (p.Val1089Met) rs886055053
NM_001365536.1(SCN9A):c.3272T>C (p.Ile1091Thr) rs774490843
NM_001365536.1(SCN9A):c.3754A>G (p.Thr1252Ala) rs886055052
NM_001365536.1(SCN9A):c.3925-13T>C rs886055051
NM_001365536.1(SCN9A):c.4099C>T (p.Arg1367Cys) rs866428752
NM_001365536.1(SCN9A):c.4143A>G (p.Arg1381=) rs200610689
NM_001365536.1(SCN9A):c.4441T>C (p.Tyr1481His) rs1693696549
NM_001365536.1(SCN9A):c.5543G>A (p.Arg1848His) rs199705100
NM_001365951.3(KIF1B):c.*1363dup rs567435289
NM_001365951.3(KIF1B):c.*249CA[13] rs111663673
NM_001365951.3(KIF1B):c.*249CA[14] rs111663673
NM_001365951.3(KIF1B):c.*249CA[15] rs111663673
NM_001365951.3(KIF1B):c.*249CA[17] rs111663673
NM_001365951.3(KIF1B):c.*249CA[18] rs111663673
NM_001365951.3(KIF1B):c.*249CA[19] rs111663673
NM_001365951.3(KIF1B):c.*281_*282dup rs886044986
NM_001365951.3(KIF1B):c.*281_*286del rs886044990
NM_001365951.3(KIF1B):c.*2978dup rs145348144
NM_001365951.3(KIF1B):c.*4127dup rs548680591
NM_001365951.3(KIF1B):c.*4279dup rs531640427
NM_001365951.3(KIF1B):c.*454CT[1] rs886044993
NM_001365951.3(KIF1B):c.*4664_*4665insG rs571589510
NM_001365951.3(KIF1B):c.-26TA[7] rs34063243
NM_001365951.3(KIF1B):c.883-10_883-7del rs886044975
NM_001370298.3(FGD4):c.*1365T>C rs927175650
NM_001370298.3(FGD4):c.*1375C>T rs1951171868
NM_001370298.3(FGD4):c.*1866T>G rs886049265
NM_001370298.3(FGD4):c.*1908G>C rs886049266
NM_001370298.3(FGD4):c.*1954A>G rs1239829
NM_001370298.3(FGD4):c.*2096T>A rs1951211157
NM_001370298.3(FGD4):c.*2264G>A rs867102953
NM_001370298.3(FGD4):c.*2537C>A rs115173894
NM_001370298.3(FGD4):c.*2928_*2931del rs549931906
NM_001370298.3(FGD4):c.*3113TA[4] rs57627640
NM_001370298.3(FGD4):c.*3113TA[6] rs57627640
NM_001370298.3(FGD4):c.*3130G>A rs73087441
NM_001370298.3(FGD4):c.*3130G>T rs73087441
NM_001370298.3(FGD4):c.*3148del rs797002948
NM_001370298.3(FGD4):c.*3150A>G rs542871416
NM_001370298.3(FGD4):c.*3195T>G rs1951276558
NM_001370298.3(FGD4):c.*3894_*3895del rs780175220
NM_001370298.3(FGD4):c.*4014C>A rs187562428
NM_001370298.3(FGD4):c.*4118G>A rs895913893
NM_001370298.3(FGD4):c.*4268A>G rs542163387
NM_001370298.3(FGD4):c.*4317T>G rs1951329705
NM_001370298.3(FGD4):c.*4347T>C rs966650800
NM_001370298.3(FGD4):c.*4369dup rs35874340
NM_001370298.3(FGD4):c.*4772dup rs567814235
NM_001370298.3(FGD4):c.*5020G>C rs886049277
NM_001370298.3(FGD4):c.*5152C>T rs886049279
NM_001370298.3(FGD4):c.*5329G>C rs886049281
NM_001370298.3(FGD4):c.*712C>T rs1226829212
NM_001370298.3(FGD4):c.*762G>T rs886049259
NM_001370298.3(FGD4):c.1305G>T (p.Met435Ile) rs1948472955
NM_001370298.3(FGD4):c.1404+4A>T rs767855809
NM_001370298.3(FGD4):c.1405-4A>G rs886049254
NM_001370298.3(FGD4):c.1602+6T>C rs1344451580
NM_001370298.3(FGD4):c.167-61986C>G rs11052033
NM_001370298.3(FGD4):c.167-62037C>A rs79370524
NM_001370298.3(FGD4):c.1980T>C (p.Phe660=) rs1950062958
NM_001370298.3(FGD4):c.2122C>A (p.Pro708Thr) rs144693221
NM_001370298.3(FGD4):c.2122C>G (p.Pro708Ala) rs144693221
NM_001370298.3(FGD4):c.2225G>A (p.Gly742Asp) rs886049255
NM_001370298.3(FGD4):c.268A>T (p.Ile90Leu) rs886049253
NM_001370298.3(FGD4):c.376C>A (p.Pro126Thr) rs199744649
NM_001370298.3(FGD4):c.846C>G (p.Asp282Glu) rs904582
NM_001370298.3(FGD4):c.846C>T (p.Asp282=) rs904582
NM_001370298.3(FGD4):c.980T>C (p.Leu327Pro) rs144980336
NM_001370658.1(BTD):c.1114C>T (p.Pro372Ser) rs886058116
NM_001370658.1(BTD):c.1427T>C (p.Phe476Ser) rs886058117
NM_001370658.1(BTD):c.41_44del (p.Gly14fs) rs1249246307
NM_001370658.1(BTD):c.641C>T (p.Thr214Ile) rs587783005
NM_001374736.1(DST):c.1217C>T (p.Pro406Leu) rs1563465064
NM_001374736.1(DST):c.2620A>T (p.Ile874Phe) rs774974326
NM_001374736.1(DST):c.3283T>G (p.Cys1095Gly) rs886061650
NM_001374736.1(DST):c.4930-438G>C rs145471325
NM_001374736.1(DST):c.4930-771dup rs3841165
NM_001374736.1(DST):c.4930-772_4930-771dup rs3841165
NM_001376.4(DYNC1H1):c.-122C>T rs566619022
NM_001376.5(DYNC1H1):c.*194C>G rs566606862
NM_001376.5(DYNC1H1):c.*70T>C rs1047475161
NM_001376.5(DYNC1H1):c.-90C>T rs1256118131
NM_001376.5(DYNC1H1):c.10320G>A (p.Leu3440=) rs886050371
NM_001376.5(DYNC1H1):c.10752T>C (p.Asn3584=) rs181445947
NM_001376.5(DYNC1H1):c.10754+11G>A rs886050372
NM_001376.5(DYNC1H1):c.10800T>C (p.Ile3600=) rs886050373
NM_001376.5(DYNC1H1):c.10843C>T (p.Leu3615=) rs886050374
NM_001376.5(DYNC1H1):c.10858A>G (p.Arg3620Gly) rs2048578052
NM_001376.5(DYNC1H1):c.11132A>G (p.Gln3711Arg) rs886050375
NM_001376.5(DYNC1H1):c.11409G>A (p.Pro3803=) rs17512783
NM_001376.5(DYNC1H1):c.1158A>G (p.Arg386=) rs567247522
NM_001376.5(DYNC1H1):c.11609G>A (p.Arg3870Gln) rs2048621150
NM_001376.5(DYNC1H1):c.11898G>A (p.Pro3966=) rs777166781
NM_001376.5(DYNC1H1):c.12354G>T (p.Pro4118=) rs143574214
NM_001376.5(DYNC1H1):c.12887T>C (p.Met4296Thr) rs886050376
NM_001376.5(DYNC1H1):c.13203C>T (p.Thr4401=) rs138022242
NM_001376.5(DYNC1H1):c.13350G>A (p.Thr4450=) rs961375016
NM_001376.5(DYNC1H1):c.13707G>C (p.Thr4569=) rs138571942
NM_001376.5(DYNC1H1):c.2462C>T (p.Ala821Val) rs1391196036
NM_001376.5(DYNC1H1):c.2922A>C (p.Pro974=) rs963837216
NM_001376.5(DYNC1H1):c.3699G>T (p.Gln1233His) rs2048072049
NM_001376.5(DYNC1H1):c.4279T>C (p.Ser1427Pro) rs2048126886
NM_001376.5(DYNC1H1):c.4647T>G (p.Gly1549=) rs1595609824
NM_001376.5(DYNC1H1):c.5049+15G>A rs975753572
NM_001376.5(DYNC1H1):c.5217C>T (p.Ile1739=) rs886050368
NM_001376.5(DYNC1H1):c.5422C>A (p.Leu1808Ile) rs879253937
NM_001376.5(DYNC1H1):c.5523G>A (p.Gln1841=) rs2048192586
NM_001376.5(DYNC1H1):c.6210C>G (p.Val2070=) rs898083162
NM_001376.5(DYNC1H1):c.6711G>A (p.Leu2237=) rs886050369
NM_001376.5(DYNC1H1):c.7014+11T>A rs748466861
NM_001376.5(DYNC1H1):c.7127A>G (p.Asn2376Ser) rs775274723
NM_001376.5(DYNC1H1):c.7442T>C (p.Met2481Thr) rs2048317566
NM_001376.5(DYNC1H1):c.8177+12C>T rs367551573
NM_001376.5(DYNC1H1):c.8178-12A>T rs538986139
NM_001376.5(DYNC1H1):c.8808T>A (p.Ile2936=) rs886050370
NM_001376.5(DYNC1H1):c.9138G>A (p.Ser3046=) rs34338935
NM_001376.5(DYNC1H1):c.9503C>T (p.Thr3168Met) rs2048487270
NM_001386140.1(MTTP):c.*1003T>C rs796899519
NM_001386140.1(MTTP):c.*1044G>T rs886058965
NM_001386140.1(MTTP):c.*219G>A rs1358012798
NM_001386140.1(MTTP):c.*41A>G rs886058959
NM_001386140.1(MTTP):c.*434G>A rs1358561776
NM_001386140.1(MTTP):c.*454dup rs545365701
NM_001386140.1(MTTP):c.*474T>C rs960894922
NM_001386140.1(MTTP):c.*517A>T rs886058964
NM_001386140.1(MTTP):c.*55G>C rs192882987
NM_001386140.1(MTTP):c.*82G>A rs886058960
NM_001386140.1(MTTP):c.1016C>T (p.Ala339Val) rs137956833
NM_001386140.1(MTTP):c.159C>A (p.Asp53Glu) rs72681995
NM_001386140.1(MTTP):c.1769+12T>C rs767162951
NM_001386140.1(MTTP):c.2195T>C (p.Ile732Thr) rs767606327
NM_001386140.1(MTTP):c.490A>G (p.Thr164Ala) rs563558722
NM_001386140.1(MTTP):c.52T>A (p.Ser18Thr) rs1724921174
NM_001386140.1(MTTP):c.782C>G (p.Thr261Ser) rs1037319735
NM_001386140.1(MTTP):c.927G>A (p.Arg309=) rs1001965936
NM_001540.4(HSPB1):c.-122G>T rs553127513
NM_001540.4(HSPB1):c.-129G>T rs886062446
NM_001540.5(HSPB1):c.*100_*103del rs537392004
NM_001540.5(HSPB1):c.108C>G (p.Pro36=) rs765197724
NM_001540.5(HSPB1):c.236G>C (p.Arg79Pro) rs926257693
NM_001540.5(HSPB1):c.305A>T (p.Asn102Ile) rs765142574
NM_001540.5(HSPB1):c.364+6C>G rs753061670
NM_001540.5(HSPB1):c.365-6C>G rs200902768
NM_001540.5(HSPB1):c.365-7C>T rs201897299
NM_001540.5(HSPB1):c.60C>T (p.Arg20=) rs1803014628
NM_001540.5(HSPB1):c.610G>A (p.Ala204Thr) rs367857772
NM_001540.5(HSPB1):c.615G>A (p.Lys205=) rs1310856057
NM_001605.3(AARS1):c.1587G>A (p.Leu529=) rs886052255
NM_001605.3(AARS1):c.1596C>A (p.Thr532=) rs142181559
NM_001605.3(AARS1):c.1611G>T (p.Glu537Asp) rs371617479
NM_001605.3(AARS1):c.1737C>T (p.Ile579=) rs144323646
NM_001605.3(AARS1):c.1762C>T (p.Gln588Ter) rs146946034
NM_001605.3(AARS1):c.1824G>A (p.Thr608=) rs199644417
NM_001605.3(AARS1):c.212A>G (p.Asn71Ser) rs757167895
NM_001605.3(AARS1):c.2240A>G (p.Lys747Arg) rs886052254
NM_001605.3(AARS1):c.2401-11A>G rs377576408
NM_001605.3(AARS1):c.2421C>A (p.Ile807=) rs768412428
NM_001605.3(AARS1):c.342A>C (p.Ala114=) rs190680402
NM_001605.3(AARS1):c.480-8T>G rs751472610
NM_001605.3(AARS1):c.501C>T (p.Leu167=) rs1567608510
NM_001723.7(DST):c.4090C>G (p.Leu1364Val) rs886061648
NM_001723.7(DST):c.4734G>A (p.Glu1578=) rs545103567
NM_001723.7(DST):c.5257G>A (p.Glu1753Lys) rs886061645
NM_001723.7(DST):c.5892C>T (p.Thr1964=) rs146263203
NM_001723.7(DST):c.6877C>T (p.Pro2293Ser) rs886061644
NM_001723.7(DST):c.6994A>C (p.Asn2332His) rs886061643
NM_001931.5(DLAT):c.396dup (p.Ala133fs) rs782173047
NM_001933.5(DLST):c.1307T>A (p.Leu436His)
NM_001953.4(TYMP):c.929-6_929-3del rs201685922
NM_001953.5(TYMP):c.-20C>T rs1040337014
NM_001953.5(TYMP):c.1044G>A (p.Ala348=) rs886057633
NM_001953.5(TYMP):c.1367A>G (p.Gln456Arg) rs2069332918
NM_001953.5(TYMP):c.1402G>T (p.Ala468Ser) rs768582480
NM_001953.5(TYMP):c.214+6_214+7del rs753466981
NM_001953.5(TYMP):c.28G>C (p.Gly10Arg) rs377572658
NM_001953.5(TYMP):c.344A>G (p.Lys115Arg) rs775841111
NM_001953.5(TYMP):c.46G>C (p.Gly16Arg) rs769568725
NM_001953.5(TYMP):c.47G>C (p.Gly16Ala) rs781163498
NM_001953.5(TYMP):c.516+14C>T rs780757016
NM_001953.5(TYMP):c.516+4C>T rs369574115
NM_001953.5(TYMP):c.586G>C (p.Gly196Arg) rs367723039
NM_001953.5(TYMP):c.647-8C>T rs753922795
NM_001953.5(TYMP):c.756A>C (p.Ala252=) rs886057635
NM_001953.5(TYMP):c.766-10C>T rs886057634
NM_001953.5(TYMP):c.952G>C (p.Gly318Arg) rs1412132331
NM_002047.2(GARS1):c.-180G>C rs919928419
NM_002047.2(GARS1):c.-195A>T rs940014942
NM_002047.2(GARS1):c.-197G>C rs886062269
NM_002047.2(GARS1):c.-59C>T rs886062271
NM_002047.2(GARS1):c.-64C>T rs932663016
NM_002047.2(GARS1):c.-69T>G rs527307703
NM_002047.4(GARS1):c.*145del rs529035174
NM_002047.4(GARS1):c.*36del rs758974790
NM_002047.4(GARS1):c.*50_*51del rs70983380
NM_002047.4(GARS1):c.*51del rs70983380
NM_002047.4(GARS1):c.-36C>A rs531483802
NM_002047.4(GARS1):c.1143G>C (p.Gln381His) rs1782883200
NM_002047.4(GARS1):c.1194+3A>C rs1782884805
NM_002047.4(GARS1):c.1770A>G (p.Glu590=) rs1783175611
NM_002047.4(GARS1):c.616G>A (p.Val206Ile) rs1584026136
NM_002180.3(IGHMBP2):c.*108G>A rs1020096647
NM_002180.3(IGHMBP2):c.*226G>C rs1447465473
NM_002180.3(IGHMBP2):c.*242C>T rs543587344
NM_002180.3(IGHMBP2):c.*524T>C rs192025232
NM_002180.3(IGHMBP2):c.*648G>A rs139118510
NM_002180.3(IGHMBP2):c.*648G>T rs139118510
NM_002180.3(IGHMBP2):c.*698C>A rs1859711487
NM_002180.3(IGHMBP2):c.*729G>A rs191714559
NM_002180.3(IGHMBP2):c.*788C>T rs886048610
NM_002180.3(IGHMBP2):c.*797T>G rs898341326
NM_002180.3(IGHMBP2):c.1587T>G (p.Gly529=) rs886048604
NM_002180.3(IGHMBP2):c.1637A>C (p.Asp546Ala) rs1566445036
NM_002180.3(IGHMBP2):c.1669C>G (p.Pro557Ala) rs7122089
NM_002180.3(IGHMBP2):c.1958A>C (p.His653Pro) rs1859530717
NM_002180.3(IGHMBP2):c.222C>A (p.Ser74=) rs139237340
NM_002180.3(IGHMBP2):c.2295C>T (p.His765=) rs149185954
NM_002180.3(IGHMBP2):c.2532G>A (p.Ala844=) rs2228207
NM_002180.3(IGHMBP2):c.2532G>T (p.Ala844=) rs2228207
NM_002180.3(IGHMBP2):c.2683A>G (p.Asn895Asp) rs886048607
NM_002180.3(IGHMBP2):c.2755C>A (p.Arg919Ser) rs145945230
NM_002180.3(IGHMBP2):c.2959C>T (p.Arg987Trp) rs1440519538
NM_002180.3(IGHMBP2):c.2975G>A (p.Gly992Glu) rs886048608
NM_002180.3(IGHMBP2):c.303G>A (p.Leu101=) rs1281690554
NM_002180.3(IGHMBP2):c.351C>T (p.Ala117=) rs1858280736
NM_002180.3(IGHMBP2):c.726C>A (p.Ala242=) rs76690064
NM_002180.3(IGHMBP2):c.726C>G (p.Ala242=) rs76690064
NM_002180.3(IGHMBP2):c.861C>G (p.Ser287Arg) rs564645287
NM_002180.3(IGHMBP2):c.887T>C (p.Ile296Thr) rs375554721
NM_002180.3(IGHMBP2):c.912+4G>A rs758392980
NM_002495.4(NDUFS4):c.*79A>G rs886060699
NM_002495.4(NDUFS4):c.*88T>A rs1740746273
NM_002495.4(NDUFS4):c.-6A>T rs73754255
NM_002495.4(NDUFS4):c.178-4G>C rs200384843
NM_002495.4(NDUFS4):c.351-11_351-8del rs375549253
NM_002495.4(NDUFS4):c.424+19dup rs140172554
NM_002495.4(NDUFS4):c.5C>A (p.Ala2Glu) rs148595893
NM_002495.4(NDUFS4):c.9G>T (p.Ala3=) rs1329465366
NM_002496.3(NDUFS8):c.-98G>A rs886048591
NM_002496.4(NDUFS8):c.199+15T>G rs3115545
NM_002496.4(NDUFS8):c.269C>T (p.Pro90Leu) rs746246241
NM_002506.3(NGF):c.283C>A (p.Arg95Ser) rs771270154
NM_002506.3(NGF):c.43G>A (p.Gly15Ser) rs181255687
NM_002529.4(NTRK1):c.1448G>A (p.Gly483Asp) rs1647855568
NM_002529.4(NTRK1):c.1632+4A>G rs886045372
NM_002529.4(NTRK1):c.1995G>A (p.Lys665=) rs553270591
NM_002529.4(NTRK1):c.2015G>A (p.Ser672Asn) rs1558108205
NM_002529.4(NTRK1):c.2035G>C (p.Asp679His) rs775191394
NM_002529.4(NTRK1):c.213-5C>G rs757323460
NM_002529.4(NTRK1):c.2205+13C>A rs1648175536
NM_002529.4(NTRK1):c.2214C>T (p.Asp738=) rs1648253157
NM_002529.4(NTRK1):c.2299G>C (p.Glu767Gln) rs886045373
NM_002529.4(NTRK1):c.468G>C (p.Leu156=) rs991397214
NM_002617.4(PEX10):c.*352G>A rs115735911
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_002778.3(PSAP):c.-33T>C rs143987544
NM_002778.3(PSAP):c.-56A>G rs534586960
NM_002778.3(PSAP):c.-62A>G rs886047155
NM_002778.3(PSAP):c.-99T>G rs886047156
NM_002778.4(PSAP):c.*113C>T rs544214520
NM_002778.4(PSAP):c.*526G>A rs1842177081
NM_002778.4(PSAP):c.*73C>T rs541692197
NM_002778.4(PSAP):c.*859C>T rs886047149
NM_002778.4(PSAP):c.1012A>G (p.Ile338Val) rs544300820
NM_002778.4(PSAP):c.1258G>A (p.Asp420Asn) rs760621775
NM_002778.4(PSAP):c.1261C>T (p.Arg421Cys) rs529719024
NM_002778.4(PSAP):c.1278C>T (p.Asn426=) rs777227555
NM_002778.4(PSAP):c.1329G>T (p.Leu443=) rs1842249121
NM_002778.4(PSAP):c.508C>G (p.Pro170Ala) rs761637109
NM_002778.4(PSAP):c.570G>T (p.Gln190His) rs142272618
NM_002778.4(PSAP):c.911A>G (p.Lys304Arg) rs757553906
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.181-15A>G rs114403769
NM_002857.4(PEX19):c.181-4G>T rs747572423
NM_002857.4(PEX19):c.630A>C (p.Leu210=) rs202174805
NM_002977.3(SCN9A):c.-324C>A rs201905758
NM_002977.3(SCN9A):c.-324C>T rs201905758
NM_002977.3(SCN9A):c.-339G>C rs886055057
NM_003001.3(SDHC):c.20+11_20+12dup rs35215598
NM_003172.2(SURF1):c.-37C>T rs523304
NM_003172.4(SURF1):c.*93C>T rs1836416878
NM_003172.4(SURF1):c.226T>C (p.Leu76=) rs782036327
NM_003172.4(SURF1):c.706G>A (p.Ala236Thr) rs781807153
NM_003172.4(SURF1):c.754_755del rs782007828
NM_003477.2(PDHX):c.-129_-127delCGG rs371074122
NM_003477.2(PDHX):c.-208C>T rs555380381
NM_003477.2(PDHX):c.-271G>T rs780153979
NM_003477.2(PDHX):c.-319G>A rs2956113
NM_003477.2(PDHX):c.-358G>A rs886048245
NM_003477.2(PDHX):c.-485G>C rs988171497
NM_003477.2(PDHX):c.-506T>C rs2016814
NM_003477.2(PDHX):c.-519C>A rs561463212
NM_003477.3(PDHX):c.*662A>T rs1855847638
NM_003477.3(PDHX):c.*783G>T rs751318367
NM_003477.3(PDHX):c.*821A>T rs1020596537
NM_003477.3(PDHX):c.*874A>G rs1855851456
NM_003477.3(PDHX):c.*904G>T rs182283782
NM_003477.3(PDHX):c.-27C>T rs529801753
NM_003477.3(PDHX):c.35G>A (p.Arg12Gln) rs200419151
NM_003477.3(PDHX):c.403G>T (p.Gly135Ter) rs769476738
NM_003477.3(PDHX):c.585C>G (p.His195Gln) rs886048247
NM_003477.3(PDHX):c.702T>C (p.Thr234=) rs772231144
NM_003477.3(PDHX):c.841A>G (p.Ser281Gly) rs886048248
NM_003477.3(PDHX):c.940A>G (p.Lys314Glu) rs1855230194
NM_003560.4(PLA2G6):c.*183_*187del rs139718702
NM_003560.4(PLA2G6):c.*350C>A rs11570770
NM_003560.4(PLA2G6):c.*548C>G rs866066890
NM_003560.4(PLA2G6):c.*565C>G rs886057497
NM_003560.4(PLA2G6):c.-130C>T rs11570597
NM_003560.4(PLA2G6):c.1778C>T (p.Pro593Leu) rs1451486649
NM_003560.4(PLA2G6):c.1904G>A (p.Arg635Gln) rs387906863
NM_003560.4(PLA2G6):c.1977C>T (p.Asn659=) rs201727354
NM_003560.4(PLA2G6):c.2030G>T (p.Arg677Leu) rs369038599
NM_003560.4(PLA2G6):c.2035-926G>A
NM_003560.4(PLA2G6):c.2035G>A (p.Gly679Ser) rs886057501
NM_003560.4(PLA2G6):c.2202+5G>A rs587784348
NM_003560.4(PLA2G6):c.2376C>A (p.His792Gln) rs751982449
NM_003560.4(PLA2G6):c.266C>A (p.Ser89Tyr) rs142715413
NM_003560.4(PLA2G6):c.776C>A (p.Ala259Asp) rs2088801961
NM_003560.4(PLA2G6):c.894+6T>G rs2088460355
NM_003560.4(PLA2G6):c.894+8G>A rs752942062
NM_003560.4(PLA2G6):c.991G>A (p.Asp331Asn) rs199935023
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.-197T>C rs184934783
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_003680.3(YARS1):c.-157G>A rs1224825373
NM_003680.3(YARS1):c.-260G>A rs905903653
NM_003680.3(YARS1):c.-441G>C rs1483819380
NM_003680.3(YARS1):c.-620A>C rs1057515550
NM_003680.3(YARS1):c.-741C>T rs547181978
NM_003680.3(YARS1):c.-782G>A rs1638832989
NM_003680.4(YARS1):c.135G>A (p.Thr45=) rs549109061
NM_003680.4(YARS1):c.410C>G (p.Ser137Cys) rs770608909
NM_003680.4(YARS1):c.466G>T (p.Val156Leu) rs781752618
NM_003680.4(YARS1):c.511-14G>A rs1057515513
NM_003680.4(YARS1):c.579C>T (p.Thr193=) rs1344194115
NM_004082.5(DCTN1):c.*111C>T rs1673974256
NM_004082.5(DCTN1):c.-167del rs886056335
NM_004082.5(DCTN1):c.-262A>G rs886056336
NM_004082.5(DCTN1):c.-263C>G rs1013222986
NM_004082.5(DCTN1):c.-72C>G rs886056334
NM_004082.5(DCTN1):c.1065A>T (p.Ala355=) rs886056333
NM_004082.5(DCTN1):c.1129A>C (p.Met377Leu) rs570863800
NM_004082.5(DCTN1):c.1140T>G (p.Leu380=) rs886056332
NM_004082.5(DCTN1):c.1393-7G>T rs886056330
NM_004082.5(DCTN1):c.1393-8T>C rs886056331
NM_004082.5(DCTN1):c.2432C>G (p.Pro811Arg) rs150928856
NM_004082.5(DCTN1):c.2782G>A (p.Ala928Thr) rs1674377455
NM_004082.5(DCTN1):c.2802G>C (p.Glu934Asp) rs1674375862
NM_004082.5(DCTN1):c.2973C>G (p.Ile991Met) rs140969689
NM_004082.5(DCTN1):c.345A>G (p.Lys115=) rs1675303256
NM_004082.5(DCTN1):c.3547G>T (p.Ala1183Ser) rs886056329
NM_004082.5(DCTN1):c.3652A>G (p.Thr1218Ala) rs886070472
NM_004082.5(DCTN1):c.3799G>C (p.Glu1267Gln) rs146083590
NM_004082.5(DCTN1):c.622C>T (p.Pro208Ser) rs770302677
NM_004082.5(DCTN1):c.627G>T (p.Pro209=) rs147673066
NM_004082.5(DCTN1):c.810C>G (p.Ala270=) rs569011011
NM_004082.5(DCTN1):c.999C>G (p.Asp333Glu) rs200952455
NM_004168.3(SDHA):c.-84dup rs35805262
NM_004168.4(SDHA):c.*75A>G rs886060517
NM_004168.4(SDHA):c.-1C>T rs560932680
NM_004168.4(SDHA):c.-7A>C rs751633537
NM_004168.4(SDHA):c.1092C>T (p.Val364=) rs886060515
NM_004168.4(SDHA):c.1177G>A (p.Val393Met) rs372989971
NM_004168.4(SDHA):c.1909-12_1909-11del rs372662724
NM_004168.4(SDHA):c.1969G>C (p.Val657Leu) rs6962
NM_004168.4(SDHA):c.1974G>C (p.Pro658=) rs1042446
NM_004168.4(SDHA):c.1977A>G (p.Pro659=) rs768693502
NM_004168.4(SDHA):c.269T>C (p.Val90Ala) rs886060514
NM_004168.4(SDHA):c.403G>A (p.Asp135Asn) rs1734960553
NM_004168.4(SDHA):c.583C>T (p.Arg195Trp) rs1337777456
NM_004168.4(SDHA):c.771-11A>G rs2288461
NM_004168.4(SDHA):c.830C>T (p.Thr277Met) rs367721665
NM_004376.5(COX15):c.*3210C>T rs886046598
NM_004376.5(COX15):c.*3755G>A rs886046596
NM_004376.5(COX15):c.*4441G>C rs886046594
NM_004376.6(COX15):c.-232C>T rs886046613
NM_004376.6(COX15):c.-250G>C rs985074355
NM_004376.6(COX15):c.-602C>A rs886046616
NM_004544.4(NDUFA10):c.*1047T>C rs1694787943
NM_004544.4(NDUFA10):c.*1124C>T rs754187471
NM_004544.4(NDUFA10):c.*1129G>A rs886055822
NM_004544.4(NDUFA10):c.*1212T>C rs886055821
NM_004544.4(NDUFA10):c.*1229C>G rs55998047
NM_004544.4(NDUFA10):c.*1391C>T rs552149779
NM_004544.4(NDUFA10):c.*1586A>G rs1483288404
NM_004544.4(NDUFA10):c.*1702G>A rs1694755462
NM_004544.4(NDUFA10):c.*1884G>C rs886055820
NM_004544.4(NDUFA10):c.*1894_*1914delinsGGG rs886055819
NM_004544.4(NDUFA10):c.*2009G>C rs370309206
NM_004544.4(NDUFA10):c.*2042A>C rs886055818
NM_004544.4(NDUFA10):c.*2046T>C rs1694740787
NM_004544.4(NDUFA10):c.*2079A>G rs1574808891
NM_004544.4(NDUFA10):c.*2136T>C rs943989946
NM_004544.4(NDUFA10):c.*2397A>G rs886055816
NM_004544.4(NDUFA10):c.*2838C>A rs532456176
NM_004544.4(NDUFA10):c.*2997G>A rs886055814
NM_004544.4(NDUFA10):c.*3009T>C rs1694711139
NM_004544.4(NDUFA10):c.*3052G>A rs1003876097
NM_004544.4(NDUFA10):c.*3175T>G rs1694704488
NM_004544.4(NDUFA10):c.*3301C>T rs1694700570
NM_004544.4(NDUFA10):c.*3403A>G rs1574807018
NM_004544.4(NDUFA10):c.*3408T>C rs886055810
NM_004544.4(NDUFA10):c.*3456T>G rs1694694826
NM_004544.4(NDUFA10):c.*3490G>C rs1694693520
NM_004544.4(NDUFA10):c.*3724G>A rs1694684016
NM_004544.4(NDUFA10):c.*412A>G rs546052985
NM_004544.4(NDUFA10):c.*435A>G rs1054245819
NM_004544.4(NDUFA10):c.*438C>T rs13396556
NM_004544.4(NDUFA10):c.*548G>C rs1694810369
NM_004544.4(NDUFA10):c.*732T>G rs1349086163
NM_004544.4(NDUFA10):c.*740C>T rs886055823
NM_004544.4(NDUFA10):c.*861C>G rs551167199
NM_004544.4(NDUFA10):c.-34C>T rs920826583
NM_004544.4(NDUFA10):c.-36C>T rs886055826
NM_004544.4(NDUFA10):c.1000-5del rs138479490
NM_004544.4(NDUFA10):c.1010G>A (p.Arg337His) rs201449418
NM_004544.4(NDUFA10):c.110G>T (p.Arg37Leu) rs558134843
NM_004544.4(NDUFA10):c.270G>A (p.Gly90=) rs770747594
NM_004544.4(NDUFA10):c.29C>T (p.Ala10Val) rs1258770997
NM_004544.4(NDUFA10):c.484T>C (p.Ser162Pro) rs1559403435
NM_004544.4(NDUFA10):c.558C>T (p.His186=) rs1407750102
NM_004544.4(NDUFA10):c.630C>T (p.Pro210=) rs148656779
NM_004544.4(NDUFA10):c.749+5G>A rs1697147446
NM_004544.4(NDUFA10):c.994A>G (p.Arg332Gly) rs758042753
NM_004551.3(NDUFS3):c.-15C>G rs950097510
NM_004551.3(NDUFS3):c.149G>A (p.Arg50Gln) rs1555198759
NM_004551.3(NDUFS3):c.190T>C (p.Tyr64His) rs886048391
NM_004551.3(NDUFS3):c.381+5G>T rs886048392
NM_004551.3(NDUFS3):c.753T>G (p.Ser251Arg) rs752314902
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_004589.3(SCO1):c.-53delA rs566330071
NM_004589.4(SCO1):c.*270T>A rs76465133
NM_004589.4(SCO1):c.*285C>T rs886052593
NM_004589.4(SCO1):c.*320= rs2040570
NM_004589.4(SCO1):c.*403A>G rs886052592
NM_004589.4(SCO1):c.*601del rs886052591
NM_004589.4(SCO1):c.153G>T (p.Ala51=) rs2074737981
NM_004589.4(SCO1):c.16C>G (p.Leu6Val) rs61753148
NM_004589.4(SCO1):c.16C>T (p.Leu6=) rs61753148
NM_004589.4(SCO1):c.224C>T (p.Pro75Leu) rs370147170
NM_004589.4(SCO1):c.273G>A (p.Gly91=) rs886052596
NM_004589.4(SCO1):c.393C>T (p.Ile131=) rs778406995
NM_004589.4(SCO1):c.433C>T (p.His145Tyr) rs2074698464
NM_004589.4(SCO1):c.798G>C (p.Leu266Phe) rs1397651609
NM_004637.5(RAB7A):c.-204G>T rs886057938
NM_004637.5(RAB7A):c.-209_-204dup rs770559386
NM_004637.6(RAB7A):c.*1026G>A rs376185459
NM_004637.6(RAB7A):c.*1079C>T rs141066124
NM_004637.6(RAB7A):c.*1161C>T rs886057952
NM_004637.6(RAB7A):c.*1219C>T rs1036501286
NM_004637.6(RAB7A):c.*182CA[9] rs139417205
NM_004637.6(RAB7A):c.*229C>T rs147244704
NM_004637.6(RAB7A):c.*317A>G rs1933980298
NM_004637.6(RAB7A):c.*421_*423del rs886057944
NM_004637.6(RAB7A):c.*473G>C rs886057945
NM_004637.6(RAB7A):c.*700C>T rs886057946
NM_004637.6(RAB7A):c.*801dup rs886057948
NM_004637.6(RAB7A):c.*819C>A rs772662283
NM_004637.6(RAB7A):c.*846A>G rs532629721
NM_004637.6(RAB7A):c.*908A>C rs546868558
NM_004637.6(RAB7A):c.*922A>G rs886057949
NM_004637.6(RAB7A):c.*929A>T rs886057950
NM_004637.6(RAB7A):c.*974A>G rs1933994920
NM_004637.6(RAB7A):c.*997T>G rs3755593
NM_004637.6(RAB7A):c.*997del rs371200521
NM_004637.6(RAB7A):c.-146G>C rs1044292082
NM_004637.6(RAB7A):c.-154G>A rs886057939
NM_004637.6(RAB7A):c.-61G>A rs2070377358
NM_004637.6(RAB7A):c.-70CTC[2] rs763539443
NM_004637.6(RAB7A):c.277C>T (p.Pro93Ser) rs11549756
NM_004637.6(RAB7A):c.456T>G (p.Phe152Leu) rs1933833236
NM_004637.6(RAB7A):c.54-15T>C rs748552184
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.*376G>C 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_004863.3(SPTLC2):c.-187C>T rs554906103
NM_004863.4(SPTLC2):c.*1077A>T rs149194260
NM_004863.4(SPTLC2):c.*1185G>C rs917777276
NM_004863.4(SPTLC2):c.*135C>A rs886050850
NM_004863.4(SPTLC2):c.*152A>T rs886050849
NM_004863.4(SPTLC2):c.*1655G>C rs45480297
NM_004863.4(SPTLC2):c.*1658G>A rs2079327620
NM_004863.4(SPTLC2):c.*1832T>C rs886050845
NM_004863.4(SPTLC2):c.*1936A>T rs886050844
NM_004863.4(SPTLC2):c.*1997T>G rs2079325752
NM_004863.4(SPTLC2):c.*2716CT[1] rs140918232
NM_004863.4(SPTLC2):c.*2777G>A rs774328377
NM_004863.4(SPTLC2):c.*2847T>C rs1340846568
NM_004863.4(SPTLC2):c.*2910_*2912del rs145606197
NM_004863.4(SPTLC2):c.*2936_*2938dup rs200856836
NM_004863.4(SPTLC2):c.*2960C>T rs886050841
NM_004863.4(SPTLC2):c.*2981del rs545316519
NM_004863.4(SPTLC2):c.*303G>A rs886050848
NM_004863.4(SPTLC2):c.*3084A>G rs2079320176
NM_004863.4(SPTLC2):c.*3286C>T rs2079319191
NM_004863.4(SPTLC2):c.*3348G>T rs1173264442
NM_004863.4(SPTLC2):c.*3668G>A rs886050835
NM_004863.4(SPTLC2):c.*3876GTT[2] rs544851038
NM_004863.4(SPTLC2):c.*4052G>C rs2079315610
NM_004863.4(SPTLC2):c.*4089del rs149064904
NM_004863.4(SPTLC2):c.*4402G>A rs886050833
NM_004863.4(SPTLC2):c.*4493dup rs145656898
NM_004863.4(SPTLC2):c.*4682C>A rs2079311832
NM_004863.4(SPTLC2):c.*4950A>T rs955565700
NM_004863.4(SPTLC2):c.*5008G>A rs368524988
NM_004863.4(SPTLC2):c.*5303A>G rs2079308922
NM_004863.4(SPTLC2):c.*5510C>T rs2079307739
NM_004863.4(SPTLC2):c.*5989dup rs149453307
NM_004863.4(SPTLC2):c.*6068C>T rs1566763209
NM_004863.4(SPTLC2):c.*6169G>T rs2079303694
NM_004863.4(SPTLC2):c.*6T>G rs73319080
NM_004863.4(SPTLC2):c.*727C>T rs115976926
NM_004863.4(SPTLC2):c.*809C>A rs886050847
NM_004863.4(SPTLC2):c.*946C>A rs752351930
NM_004863.4(SPTLC2):c.*946C>T rs752351930
NM_004863.4(SPTLC2):c.-30G>A rs142320856
NM_004863.4(SPTLC2):c.-30G>T rs142320856
NM_004863.4(SPTLC2):c.1247T>C (p.Val416Ala) rs577862696
NM_004863.4(SPTLC2):c.133-12C>T rs2079853345
NM_004863.4(SPTLC2):c.1569+8G>T rs577069180
NM_004863.4(SPTLC2):c.1570-13T>C rs886050851
NM_004863.4(SPTLC2):c.162A>C (p.Leu54=) rs115191009
NM_004863.4(SPTLC2):c.620G>T (p.Arg207Leu) rs751801159
NM_004863.4(SPTLC2):c.723G>A (p.Thr241=) rs114519796
NM_004863.4(SPTLC2):c.723G>T (p.Thr241=) rs114519796
NM_004863.4(SPTLC2):c.761G>C (p.Cys254Ser) rs572378641
NM_005006.6(NDUFS1):c.-149T>G rs572965960
NM_005006.7(NDUFS1):c.*1077A>T rs917604810
NM_005006.7(NDUFS1):c.*457T>A rs4147728
NM_005006.7(NDUFS1):c.*459A>G rs1691173843
NM_005006.7(NDUFS1):c.*504G>A rs548641207
NM_005006.7(NDUFS1):c.*53T>G rs116335919
NM_005006.7(NDUFS1):c.*846del rs58253838
NM_005006.7(NDUFS1):c.*846dup rs58253838
NM_005006.7(NDUFS1):c.*864G>A rs1691159722
NM_005006.7(NDUFS1):c.*93dup rs200446477
NM_005006.7(NDUFS1):c.-101G>A rs983757976
NM_005006.7(NDUFS1):c.-31A>G rs1687818178
NM_005006.7(NDUFS1):c.-38T>G rs1559071008
NM_005006.7(NDUFS1):c.-47C>G rs4147707
NM_005006.7(NDUFS1):c.-73C>A rs367649369
NM_005006.7(NDUFS1):c.-76G>A rs116137442
NM_005006.7(NDUFS1):c.1291C>T (p.Leu431Phe) rs78042826
NM_005006.7(NDUFS1):c.1393-7del rs760292289
NM_005006.7(NDUFS1):c.154-10_154-9del rs568965659
NM_005006.7(NDUFS1):c.262-15del rs34184317
NM_005006.7(NDUFS1):c.262-15dup rs34184317
NM_005006.7(NDUFS1):c.32T>A (p.Val11Glu) rs1367512688
NM_005006.7(NDUFS1):c.337A>G (p.Arg113Gly) rs1692265722
NM_005006.7(NDUFS1):c.966G>T (p.Ala322=) rs1127566
NM_005006.7(NDUFS1):c.986T>C (p.Met329Thr) rs774232299
NM_005138.3(SCO2):c.-135_-132dup rs143413019
NM_005138.3(SCO2):c.59G>C (p.Arg20Pro) rs140523
NM_005572.3(LMNA):c.-225C>A rs886045355
NM_005572.3(LMNA):c.-226C>T rs886045354
NM_005908.4(MANBA):c.*314A>G rs886058966
NM_005908.4(MANBA):c.*328T>A rs1729383430
NM_005908.4(MANBA):c.*503G>C rs1022995879
NM_005908.4(MANBA):c.-58G>A rs548442432
NM_005908.4(MANBA):c.1485+9T>C rs199592616
NM_005908.4(MANBA):c.1705-13C>A rs34754408
NM_005908.4(MANBA):c.1705-13C>T rs34754408
NM_005908.4(MANBA):c.1754G>T (p.Arg585Leu) rs200033515
NM_005908.4(MANBA):c.1953G>A (p.Thr651=) rs886058968
NM_005908.4(MANBA):c.2102C>T (p.Thr701Met) rs2866413
NM_005908.4(MANBA):c.2212C>T (p.Arg738Cys) rs763613927
NM_005908.4(MANBA):c.2269T>C (p.Leu757=) rs774068992
NM_005908.4(MANBA):c.2358C>T (p.Asn786=) rs767182713
NM_005908.4(MANBA):c.2415+1G>C rs1284324018
NM_005908.4(MANBA):c.2473G>A (p.Ala825Thr) rs182869272
NM_005908.4(MANBA):c.492C>T (p.Pro164=) rs1722640489
NM_005908.4(MANBA):c.68A>G (p.Tyr23Cys) rs1724216325
NM_005908.4(MANBA):c.746G>A (p.Gly249Asp) rs1732436667
NM_005908.4(MANBA):c.77G>A (p.Arg26His) rs767103860
NM_005908.4(MANBA):c.961-8C>A rs886058969
NM_006096.3(NDRG1):c.-166A>C rs985517616
NM_006096.4(NDRG1):c.*1179G>C rs1041250053
NM_006096.4(NDRG1):c.*1296C>T rs886062711
NM_006096.4(NDRG1):c.*1361C>A rs887335765
NM_006096.4(NDRG1):c.*308C>T rs995056665
NM_006096.4(NDRG1):c.*403G>A rs954177065
NM_006096.4(NDRG1):c.*618T>G rs886062713
NM_006096.4(NDRG1):c.*854G>A rs576857084
NM_006096.4(NDRG1):c.-120C>T rs11575971
NM_006096.4(NDRG1):c.-128C>T rs886062719
NM_006096.4(NDRG1):c.1000G>A (p.Val334Ile) rs568119325
NM_006096.4(NDRG1):c.1041C>T (p.Ser347=) rs1467447359
NM_006096.4(NDRG1):c.307G>C (p.Ala103Pro) rs374160497
NM_006096.4(NDRG1):c.387T>G (p.Phe129Leu) rs574238421
NM_006096.4(NDRG1):c.448G>T (p.Ala150Ser) rs150796527
NM_006096.4(NDRG1):c.498C>A (p.Asn166Lys) rs1856400076
NM_006096.4(NDRG1):c.528C>G (p.Ala176=) rs191237702
NM_006096.4(NDRG1):c.64-20dup rs756038946
NM_006096.4(NDRG1):c.951G>A (p.Ser317=) rs1310471207
NM_006096.4(NDRG1):c.973C>T (p.Arg325Trp) rs141078746
NM_006158.4(NEFL):c.-183C>G rs62503766
NM_006158.4(NEFL):c.-248C>G rs927020136
NM_006158.4(NEFL):c.-258C>G rs769348830
NM_006158.5(NEFL):c.*1153T>G rs1802971132
NM_006158.5(NEFL):c.*1198G>C rs4644268
NM_006158.5(NEFL):c.*1340_*1342del rs886062829
NM_006158.5(NEFL):c.*1342A>G rs886062830
NM_006158.5(NEFL):c.*1349T>G rs886062828
NM_006158.5(NEFL):c.*1609_*1612del rs886062826
NM_006158.5(NEFL):c.*235A>T rs1059111
NM_006158.5(NEFL):c.*407_*408del rs144391096
NM_006158.5(NEFL):c.*486T>G rs562682645
NM_006158.5(NEFL):c.*565del rs886062833
NM_006158.5(NEFL):c.*577T>C rs886062832
NM_006158.5(NEFL):c.-68T>A rs886062836
NM_006158.5(NEFL):c.293A>G (p.Asn98Ser) rs58982919
NM_006158.5(NEFL):c.516C>T (p.Arg172=) rs1803046250
NM_006158.5(NEFL):c.540G>C (p.Glu180Asp) rs1797704362
NM_006158.5(NEFL):c.558G>A (p.Glu186=) rs554279852
NM_006158.5(NEFL):c.638T>C (p.Ile213Thr) rs2117254829
NM_006158.5(NEFL):c.717G>A (p.Gln239=) rs1803041188
NM_006308.3(HSPB3):c.*11G>T rs1761047037
NM_006308.3(HSPB3):c.*79C>T rs898535055
NM_006308.3(HSPB3):c.158C>A (p.Ser53Tyr) rs756831768
NM_006308.3(HSPB3):c.347G>C (p.Arg116Pro) rs150931007
NM_006329.4(FBLN5):c.-139C>T rs554315938
NM_006329.4(FBLN5):c.-389C>A rs886050891
NM_006329.4(FBLN5):c.-428G>C rs886050893
NM_006329.4(FBLN5):c.-77C>G rs751344551
NM_006329.4(FBLN5):c.1063G>C (p.Val355Leu) rs754104809
NM_006329.4(FBLN5):c.124+8C>A rs2056089374
NM_006329.4(FBLN5):c.388G>A (p.Glu130Lys) rs886050888
NM_006329.4(FBLN5):c.726C>G (p.Gly242=) rs148209555
NM_006415.4(SPTLC1):c.*1307C>T rs1832954866
NM_006415.4(SPTLC1):c.*190A>C rs552433019
NM_006415.4(SPTLC1):c.*451G>A rs868416931
NM_006415.4(SPTLC1):c.*451G>T rs868416931
NM_006415.4(SPTLC1):c.*605T>C rs1057515687
NM_006415.4(SPTLC1):c.*631G>C rs1057515686
NM_006415.4(SPTLC1):c.*797T>G rs1832969371
NM_006415.4(SPTLC1):c.1137-23GT[6] rs147137401
NM_006415.4(SPTLC1):c.1160G>A (p.Gly387Glu) rs119482084
NM_006415.4(SPTLC1):c.1226T>G (p.Val409Gly) rs1293065103
NM_006415.4(SPTLC1):c.1329-9T>C rs778388513
NM_006415.4(SPTLC1):c.25G>A (p.Val9Ile) rs539660978
NM_006415.4(SPTLC1):c.452G>T (p.Arg151Leu) rs45461899
NM_006415.4(SPTLC1):c.707G>A (p.Arg236His) rs765970732
NM_007103.3(NDUFV1):c.-111T>C rs563140258
NM_007103.3(NDUFV1):c.-159G>T rs1387676031
NM_007103.4(NDUFV1):c.*14C>T rs886048590
NM_007103.4(NDUFV1):c.-34T>A rs886048586
NM_007103.4(NDUFV1):c.-61A>G rs947406124
NM_007103.4(NDUFV1):c.1233C>T (p.Ser411=) rs1854932368
NM_007103.4(NDUFV1):c.1269G>A (p.Thr423=) rs147719815
NM_007103.4(NDUFV1):c.218C>T (p.Pro73Leu) rs886048587
NM_007103.4(NDUFV1):c.333G>T (p.Lys111Asn) rs886048588
NM_007103.4(NDUFV1):c.432G>T (p.Val144=) rs144087607
NM_007103.4(NDUFV1):c.904A>G (p.Lys302Glu) rs573896386
NM_007103.4(NDUFV1):c.929G>T (p.Gly310Val) rs1432435322
NM_012073.4(CCT5):c.-112G>A rs745933943
NM_012073.5(CCT5):c.*1174C>A rs1746211625
NM_012073.5(CCT5):c.*1427G>A rs191751648
NM_012073.5(CCT5):c.*1483G>A rs1746230429
NM_012073.5(CCT5):c.*161C>T rs1746148378
NM_012073.5(CCT5):c.*386T>C rs533551114
NM_012073.5(CCT5):c.*513G>C rs72738997
NM_012073.5(CCT5):c.*749A>G rs1746183602
NM_012073.5(CCT5):c.*797G>A rs1746187490
NM_012073.5(CCT5):c.*889C>A rs1746194445
NM_012073.5(CCT5):c.1120A>G (p.Ile374Val) rs1745970022
NM_012073.5(CCT5):c.1183A>G (p.Ile395Val) rs781378409
NM_012073.5(CCT5):c.1216T>G (p.Leu406Val) rs746067421
NM_012073.5(CCT5):c.1474G>C (p.Asp492His) rs749250007
NM_012073.5(CCT5):c.918T>C (p.Phe306=) rs1745924206
NM_012073.5(CCT5):c.968G>A (p.Arg323His) rs1745927457
NM_012073.5(CCT5):c.994-13C>T rs1745959498
NM_014317.5(PDSS1):c.*110_*113dup rs144094307
NM_014317.5(PDSS1):c.*262T>C rs886046937
NM_014317.5(PDSS1):c.1027-7_1027-6del rs527296865
NM_014317.5(PDSS1):c.129+7T>C rs886046934
NM_014317.5(PDSS1):c.163-5del rs34296355
NM_014317.5(PDSS1):c.215_221del (p.Cys72fs) rs1564416478
NM_014317.5(PDSS1):c.51G>A (p.Ala17=) rs886046932
NM_014317.5(PDSS1):c.686C>T (p.Ser229Phe) rs142182789
NM_014365.2(HSPB8):c.-489G>A rs886049023
NM_014365.2(HSPB8):c.-522C>G rs981936850
NM_014365.3(HSPB8):c.*330A>T rs1954730443
NM_014365.3(HSPB8):c.*504T>C rs886049027
NM_014365.3(HSPB8):c.*616C>G rs6413487
NM_014365.3(HSPB8):c.*616C>T rs6413487
NM_014365.3(HSPB8):c.*707_*720delinsAAAA rs886049028
NM_014365.3(HSPB8):c.*848TAA[10] rs60924821
NM_014365.3(HSPB8):c.*848TAA[9] rs60924821
NM_014365.3(HSPB8):c.*860T>C rs1223485106
NM_014365.3(HSPB8):c.266C>G (p.Pro89Arg) rs35909818
NM_014365.3(HSPB8):c.432-10T>A rs368810689
NM_014845.6(FIG4):c.*150_*151del rs886060986
NM_014845.6(FIG4):c.1272-10C>G rs201293291
NM_014845.6(FIG4):c.1889+9C>T rs1777643262
NM_014845.6(FIG4):c.2097-10C>G rs142482745
NM_014845.6(FIG4):c.2223G>T (p.Thr741=) rs181012139
NM_014845.6(FIG4):c.235G>A (p.Gly79Arg) rs886060982
NM_014845.6(FIG4):c.2460A>C (p.Arg820Ser) rs886060984
NM_014845.6(FIG4):c.2546+5G>C rs1060501401
NM_014845.6(FIG4):c.2547-5T>G rs200267243
NM_014845.6(FIG4):c.2568G>T (p.Ser856=) rs140055056
NM_014845.6(FIG4):c.640G>A (p.Gly214Arg) rs529048339
NM_014874.3(MFN2):c.-217C>A rs886045218
NM_014874.3(MFN2):c.-344C>T rs886045216
NM_014874.4(MFN2):c.*1068C>T rs886045229
NM_014874.4(MFN2):c.*121A>G rs886045222
NM_014874.4(MFN2):c.*1258G>A rs116156978
NM_014874.4(MFN2):c.*1392A>G rs886045230
NM_014874.4(MFN2):c.*1640del rs35943162
NM_014874.4(MFN2):c.*1640dup rs35943162
NM_014874.4(MFN2):c.*1763G>A rs1639769422
NM_014874.4(MFN2):c.*1797GTT[1] rs140537612
NM_014874.4(MFN2):c.*221_*222dup rs558848411
NM_014874.4(MFN2):c.*381C>A rs966318629
NM_014874.4(MFN2):c.*57C>T rs886045221
NM_014874.4(MFN2):c.*610del rs747291228
NM_014874.4(MFN2):c.*864T>C rs886045226
NM_014874.4(MFN2):c.*935G>T rs886045228
NM_014874.4(MFN2):c.-80C>T rs7538183
NM_014874.4(MFN2):c.1198C>T (p.Arg400Ter) rs879253939
NM_014874.4(MFN2):c.1436C>G (p.Ser479Cys) rs1639333679
NM_014874.4(MFN2):c.153G>T (p.Gln51His) rs886045219
NM_014874.4(MFN2):c.1631A>G (p.His544Arg) rs1639384043
NM_014874.4(MFN2):c.1659G>A (p.Val553=) rs886045220
NM_014874.4(MFN2):c.1716+8A>G rs1639390139
NM_014874.4(MFN2):c.1920C>G (p.Leu640=) rs141468012
NM_014874.4(MFN2):c.1938C>A (p.Val646=) rs1040702840
NM_014874.4(MFN2):c.1950G>A (p.Leu650=) rs772030424
NM_014874.4(MFN2):c.2211A>G (p.Lys737=) rs1639694970
NM_014874.4(MFN2):c.271G>A (p.Val91Met) rs1557519001
NM_014874.4(MFN2):c.708G>A (p.Thr236=) rs1557524867
NM_014874.4(MFN2):c.898C>T (p.Arg300Cys) rs863224066
NM_015046.5(SETX):c.-190G>A rs1055615359
NM_015046.7(SETX):c.*1050A>C rs1842477894
NM_015046.7(SETX):c.*1148T>C rs138991890
NM_015046.7(SETX):c.*1148T>G rs138991890
NM_015046.7(SETX):c.*1233A>G rs1388263414
NM_015046.7(SETX):c.*1368G>A rs7025
NM_015046.7(SETX):c.*1370G>C rs116822064
NM_015046.7(SETX):c.*1433A>T rs886063550
NM_015046.7(SETX):c.*1487A>G rs1842460355
NM_015046.7(SETX):c.*1494A>G rs1327797847
NM_015046.7(SETX):c.*1713C>T rs771853459
NM_015046.7(SETX):c.*1987T>C rs1589593075
NM_015046.7(SETX):c.*2002A>G rs886063547
NM_015046.7(SETX):c.*2015C>T rs552487555
NM_015046.7(SETX):c.*2136A>T rs886063545
NM_015046.7(SETX):c.*2190A>G rs531640605
NM_015046.7(SETX):c.*2576_*2577del rs886063544
NM_015046.7(SETX):c.*2639T>C rs886063543
NM_015046.7(SETX):c.*266A>G rs575959163
NM_015046.7(SETX):c.*2753G>A rs886063542
NM_015046.7(SETX):c.*431_*432del rs112251805
NM_015046.7(SETX):c.*608G>C rs528924481
NM_015046.7(SETX):c.-154G>C rs886063561
NM_015046.7(SETX):c.1358A>G (p.Lys453Arg) rs886063559
NM_015046.7(SETX):c.156T>C (p.Asp52=) rs1848476611
NM_015046.7(SETX):c.1922C>G (p.Ser641Cys) rs886063557
NM_015046.7(SETX):c.1993G>C (p.Glu665Gln) rs1339144218
NM_015046.7(SETX):c.2517C>T (p.His839=) rs1464623855
NM_015046.7(SETX):c.2533C>T (p.Pro845Ser) rs1847046317
NM_015046.7(SETX):c.2698A>G (p.Thr900Ala) rs1320466105
NM_015046.7(SETX):c.3021T>A (p.Asp1007Glu) rs1847007637
NM_015046.7(SETX):c.32G>A (p.Gly11Asp) rs886063560
NM_015046.7(SETX):c.389-9del rs534931548
NM_015046.7(SETX):c.397T>G (p.Cys133Gly) rs766625711
NM_015046.7(SETX):c.4053A>G (p.Gln1351=) rs886063553
NM_015046.7(SETX):c.4924C>A (p.Pro1642Thr) rs375942182
NM_015046.7(SETX):c.5267T>A (p.Phe1756Tyr) rs762175796
NM_015046.7(SETX):c.5315T>C (p.Phe1772Ser) rs886063552
NM_015046.7(SETX):c.5809G>T (p.Asp1937Tyr) rs1844714133
NM_015046.7(SETX):c.60C>T (p.Arg20=) rs553346505
NM_015046.7(SETX):c.6106+8A>G rs1314479594
NM_015046.7(SETX):c.6843-6_6843-5dup rs34769225
NM_015046.7(SETX):c.7100+3G>A rs752203746
NM_015046.7(SETX):c.7375G>A (p.Ala2459Thr) rs1182285610
NM_015046.7(SETX):c.737C>G (p.Thr246Ser) rs1847481832
NM_015046.7(SETX):c.7648A>G (p.Lys2550Glu) rs1842546596
NM_015046.7(SETX):c.7735G>A (p.Val2579Ile) rs144121978
NM_015046.7(SETX):c.7750C>T (p.Leu2584=) rs1842537896
NM_015046.7(SETX):c.7775C>T (p.Ala2592Val) rs1842534708
NM_015046.7(SETX):c.77C>G (p.Pro26Arg) rs377617692
NM_015046.7(SETX):c.7825C>G (p.Pro2609Ala) rs765888424
NM_015046.7(SETX):c.988C>T (p.His330Tyr) rs1847220041
NM_015506.3(MMACHC):c.658_660del (p.Lys220del) rs398124296
NM_016138.5(COQ7):c.160C>T (p.Arg54Trp)
NM_016138.5(COQ7):c.1A>C (p.Met1Leu)
NM_016156.5(MTMR2):c.-222G>C rs746848952
NM_016156.6(MTMR2):c.*1036C>T rs1863154187
NM_016156.6(MTMR2):c.*1100_*1103dup rs886048767
NM_016156.6(MTMR2):c.*1226_*1228del rs142663762
NM_016156.6(MTMR2):c.*1249G>A rs1863142451
NM_016156.6(MTMR2):c.*1339T>G rs547240331
NM_016156.6(MTMR2):c.*1343_*1344del rs886048765
NM_016156.6(MTMR2):c.*1425A>G rs886048764
NM_016156.6(MTMR2):c.*1656T>G rs1006542556
NM_016156.6(MTMR2):c.*1822T>G rs562826516
NM_016156.6(MTMR2):c.*2038C>G rs886048763
NM_016156.6(MTMR2):c.*239A>T rs574781741
NM_016156.6(MTMR2):c.*345CT[1] rs762396029
NM_016156.6(MTMR2):c.*810C>G rs1863164114
NM_016156.6(MTMR2):c.*987T>C rs57807625
NM_016156.6(MTMR2):c.184_186del (p.Arg62del) rs141498429
NM_016156.6(MTMR2):c.186+5624TTTTA[6] rs112378876
NM_016156.6(MTMR2):c.212C>T (p.Ala71Val) rs886048772
NM_016156.6(MTMR2):c.289T>A (p.Phe97Ile) rs1864455547
NM_017929.5(PEX26):c.-164G>T rs1926353199
NM_017929.5(PEX26):c.-207T>C rs905580400
NM_018319.3(TDP1):c.-275C>G rs886050881
NM_018319.4(TDP1):c.*1099G>A rs1888617977
NM_018319.4(TDP1):c.*134A>C rs780471860
NM_018319.4(TDP1):c.*135T>C rs1566938109
NM_018319.4(TDP1):c.*1399T>A rs1888638490
NM_018319.4(TDP1):c.*1511C>G rs1596750474
NM_018319.4(TDP1):c.*932C>T rs537989252
NM_018319.4(TDP1):c.-242T>G rs533696578
NM_018319.4(TDP1):c.-243C>T rs886873955
NM_018319.4(TDP1):c.-264G>A rs1891509764
NM_018319.4(TDP1):c.-55C>G rs751280891
NM_018319.4(TDP1):c.-76T>C rs886050883
NM_018319.4(TDP1):c.1201G>T (p.Val401Phe) rs892739281
NM_018319.4(TDP1):c.1611C>G (p.Tyr537Ter) rs772318046
NM_018319.4(TDP1):c.25A>G (p.Arg9Gly) rs906821798
NM_018444.3(PDP1):c.-273T>A rs4469422
NM_018444.4(PDP1):c.*1661del rs60316663
NM_018444.4(PDP1):c.*724del rs886063179
NM_018444.4(PDP1):c.*898CTT[1] rs756226872
NM_018972.4(GDAP1):c.*1043G>C rs762978513
NM_018972.4(GDAP1):c.*1124G>T rs886063111
NM_018972.4(GDAP1):c.*1165C>G rs1809586700
NM_018972.4(GDAP1):c.*1377C>T rs886063112
NM_018972.4(GDAP1):c.*1639A>G rs145245478
NM_018972.4(GDAP1):c.*1639A>T rs145245478
NM_018972.4(GDAP1):c.*1779G>T rs886063115
NM_018972.4(GDAP1):c.*2170A>G rs886063117
NM_018972.4(GDAP1):c.*2298A>C rs4551344
NM_018972.4(GDAP1):c.*451C>T rs1809544520
NM_018972.4(GDAP1):c.*858G>T rs761964880
NM_018972.4(GDAP1):c.*864G>C rs886063108
NM_018972.4(GDAP1):c.*898A>G rs886063109
NM_018972.4(GDAP1):c.296A>T (p.Gln99Leu) rs1808871593
NM_018972.4(GDAP1):c.719G>C (p.Cys240Ser) rs121908115
NM_018972.4(GDAP1):c.776A>G (p.Lys259Arg) rs778557691
NM_018972.4(GDAP1):c.872A>G (p.Lys291Arg) rs1809508613
NM_018979.4(WNK1):c.*1132_*1133del rs546217405
NM_018979.4(WNK1):c.*1347del rs886048817
NM_018979.4(WNK1):c.*1722ATTA[1] rs561811313
NM_018979.4(WNK1):c.*1904CAC[5] rs778502996
NM_018979.4(WNK1):c.*2192_*2196dup rs568163399
NM_018979.4(WNK1):c.*2378_*2381dup rs1399161251
NM_018979.4(WNK1):c.*2615_*2618dup rs376351532
NM_018979.4(WNK1):c.*628del rs886048808
NM_018979.4(WNK1):c.*628dup rs886048808
NM_018979.4(WNK1):c.*654_*655del rs560549119
NM_018979.4(WNK1):c.*762CT[1] rs886048813
NM_018979.4(WNK1):c.*772_*776del rs886048815
NM_018979.4(WNK1):c.-308G>T rs886049861
NM_018979.4(WNK1):c.-351dup rs886049860
NM_018979.4(WNK1):c.4605_4607del (p.Ser1536del) rs72650732
NM_018979.4(WNK1):c.5370G>T (p.Gln1790His) rs773797682
NM_020247.5(COQ8A):c.*252A>C rs886046070
NM_020247.5(COQ8A):c.*326C>G rs886046071
NM_020247.5(COQ8A):c.*401A>G rs1660167809
NM_020247.5(COQ8A):c.*497C>T rs1660172039
NM_020247.5(COQ8A):c.*693G>T rs886046074
NM_020247.5(COQ8A):c.*759T>C rs1017095829
NM_020247.5(COQ8A):c.*761G>A rs145779574
NM_020247.5(COQ8A):c.1163-10C>T rs886046067
NM_020247.5(COQ8A):c.1256+11C>G rs564593360
NM_020247.5(COQ8A):c.1398+12C>A rs774158999
NM_020247.5(COQ8A):c.1440C>T (p.Phe480=) rs12593
NM_020247.5(COQ8A):c.1679T>C (p.Leu560Ser) rs886046068
NM_020247.5(COQ8A):c.1713C>A (p.Ala571=) rs886046069
NM_020247.5(COQ8A):c.1800C>T (p.Val600=) rs74589348
NM_020247.5(COQ8A):c.1844dup (p.Ser616fs) rs764847439
NM_020247.5(COQ8A):c.1936C>A (p.Gln646Lys) rs555171534
NM_020247.5(COQ8A):c.427G>A (p.Gly143Arg) rs760566419
NM_020247.5(COQ8A):c.521C>A (p.Thr174Lys) rs181579601
NM_020247.5(COQ8A):c.719A>C (p.Glu240Ala) rs886046065
NM_020312.4(COQ9):c.*630A>G rs886052184
NM_020312.4(COQ9):c.*74G>A rs886052181
NM_020312.4(COQ9):c.-25C>T rs547268811
NM_020312.4(COQ9):c.163C>A (p.Pro55Thr) rs899467244
NM_020312.4(COQ9):c.404C>T (p.Ala135Val) rs886052180
NM_020312.4(COQ9):c.73+9del rs749532852
NM_020312.4(COQ9):c.79C>G (p.Arg27Gly) rs140264612
NM_020312.4(COQ9):c.812G>A (p.Arg271His) rs774033422
NM_020312.4(COQ9):c.849G>C (p.Met283Ile) rs863223939
NM_020381.4(PDSS2):c.*1886_*1887insAA rs886060915
NM_020381.4(PDSS2):c.*2032dup rs886060914
NM_020381.4(PDSS2):c.*544dup rs35619837
NM_020631.4(PLEKHG5):c.*1158G>C rs2986754
NM_020631.4(PLEKHG5):c.*1379_*1382delGGCG rs45542640
NM_020631.4(PLEKHG5):c.*1405A>G rs1644367397
NM_020631.4(PLEKHG5):c.*1413_*1420delAGAGCACG rs45616733
NM_020631.4(PLEKHG5):c.*981dupC rs553519753
NM_020631.5(PLEKHG5):c.*555T>A rs886046494
NM_020631.5(PLEKHG5):c.*573G>A rs1644399627
NM_020631.5(PLEKHG5):c.*697C>T rs3176900
NM_020631.5(PLEKHG5):c.*750delC rs886046493
NM_020631.5(PLEKHG5):c.*751delT rs372197062
NM_020631.6(PLEKHG5):c.*363C>G rs186882493
NM_020631.6(PLEKHG5):c.1528G>A (p.Ala510Thr) rs1475922783
NM_020631.6(PLEKHG5):c.1703T>C (p.Leu568Pro) rs759670081
NM_020631.6(PLEKHG5):c.2132A>G (p.Gln711Arg) rs886046500
NM_020631.6(PLEKHG5):c.2145GGA[10] (p.Glu723_Gly724insGluGlu) rs113541584
NM_020631.6(PLEKHG5):c.2145GGA[7] (p.Glu723del) rs113541584
NM_020631.6(PLEKHG5):c.2145GGA[9] (p.Glu723_Gly724insGlu) rs113541584
NM_020631.6(PLEKHG5):c.2160G>A (p.Glu720=) rs867638588
NM_020631.6(PLEKHG5):c.2410C>T (p.Pro804Ser) rs886046499
NM_020631.6(PLEKHG5):c.2458G>A (p.Gly820Ser) rs202191898
NM_020631.6(PLEKHG5):c.2612C>T (p.Pro871Leu) rs886046498
NM_020631.6(PLEKHG5):c.2759_2761del (p.Pro920del) rs536097668
NM_020631.6(PLEKHG5):c.43+14_43+20del rs527883968
NM_020631.6(PLEKHG5):c.547G>A (p.Glu183Lys) rs886046502
NM_020631.6(PLEKHG5):c.806A>T (p.Lys269Met) rs886046501
NM_021619.3(PRDM12):c.742T>G (p.Cys248Gly) rs2132608027
NM_021619.3(PRDM12):c.788G>A (p.Arg263His) rs2132608078
NM_021625.4(TRPV4):c.-92G>T rs906360195
NM_021625.5(TRPV4):c.*145C>T rs1889461810
NM_021625.5(TRPV4):c.*227A>G rs1889456342
NM_021625.5(TRPV4):c.*2G>A rs1889473862
NM_021625.5(TRPV4):c.*421G>A rs1010774371
NM_021625.5(TRPV4):c.*83C>G rs1360617913
NM_021625.5(TRPV4):c.1352C>T (p.Ala451Val) rs886048940
NM_021625.5(TRPV4):c.171T>C (p.Pro57=) rs886048941
NM_021625.5(TRPV4):c.1796C>G (p.Thr599Arg) rs769225216
NM_021625.5(TRPV4):c.1825-15C>G rs200602134
NM_021625.5(TRPV4):c.1825-15C>T rs200602134
NM_021625.5(TRPV4):c.195A>G (p.Pro65=) rs1891742510
NM_021625.5(TRPV4):c.2258G>A (p.Arg753Lys) rs1889714023
NM_021625.5(TRPV4):c.2433G>A (p.Ser811=) rs34071623
NM_021625.5(TRPV4):c.427C>A (p.Pro143Thr) rs201642486
NM_021625.5(TRPV4):c.760G>A (p.Val254Met) rs143548402
NM_021625.5(TRPV4):c.797C>T (p.Ala266Val) rs1890720450
NM_021830.5(TWNK):c.*248G>A rs1851850715
NM_021830.5(TWNK):c.*346A>C rs1851852761
NM_021830.5(TWNK):c.*555G>A rs886046635
NM_021830.5(TWNK):c.*747C>G rs886046638
NM_021830.5(TWNK):c.-304G>A rs200599543
NM_021830.5(TWNK):c.-423C>T rs886046627
NM_021830.5(TWNK):c.-584G>C rs1564806518
NM_021830.5(TWNK):c.-585T>G rs886046624
NM_021830.5(TWNK):c.-622C>T rs993449080
NM_021830.5(TWNK):c.1070G>C (p.Arg357Pro) rs758026634
NM_021830.5(TWNK):c.1826G>T (p.Arg609Leu) rs1274226715
NM_021830.5(TWNK):c.1906G>A (p.Ala636Thr) rs1426435572
NM_021830.5(TWNK):c.2045G>A (p.Arg682His) rs182559752
NM_021830.5(TWNK):c.276C>T (p.Gly92=) rs886046631
NM_021830.5(TWNK):c.596G>A (p.Arg199Gln) rs1564807938
NM_021830.5(TWNK):c.77G>T (p.Gly26Val) rs772221026
NM_022041.4(GAN):c.*1454_*1455dup rs3214897
NM_022041.4(GAN):c.*1455del rs3214897
NM_022041.4(GAN):c.*1455dup rs3214897
NM_022041.4(GAN):c.*1585T>C rs886052344
NM_022041.4(GAN):c.*1659del rs546229255
NM_022041.4(GAN):c.*1670C>T rs569008014
NM_022041.4(GAN):c.*176G>T rs1196229669
NM_022041.4(GAN):c.*1820G>A rs561770690
NM_022041.4(GAN):c.*2125A>G rs1904295878
NM_022041.4(GAN):c.*214C>T rs886052338
NM_022041.4(GAN):c.*2280G>C rs886052349
NM_022041.4(GAN):c.*2332del rs533512036
NM_022041.4(GAN):c.*2332dup rs533512036
NM_022041.4(GAN):c.*237T>A rs113064319
NM_022041.4(GAN):c.*2457T>C rs886052352
NM_022041.4(GAN):c.*2485A>G rs886052353
NM_022041.4(GAN):c.*291A>G rs541752526
NM_022041.4(GAN):c.*360G>A rs886052339
NM_022041.4(GAN):c.*360G>T rs886052339
NM_022041.4(GAN):c.*45T>C rs886052337
NM_022041.4(GAN):c.*644T>C rs1006920510
NM_022041.4(GAN):c.*733G>A rs530029543
NM_022041.4(GAN):c.*964C>G rs535218815
NM_022041.4(GAN):c.-111G>A rs12929567
NM_022041.4(GAN):c.-126T>C rs886052330
NM_022041.4(GAN):c.-15G>C rs755662335
NM_022041.4(GAN):c.-70C>T rs558816909
NM_022041.4(GAN):c.-75G>C rs117642837
NM_022041.4(GAN):c.1183G>C (p.Asp395His) rs142456623
NM_022041.4(GAN):c.148G>T (p.Ala50Ser) rs761981181
NM_022041.4(GAN):c.1665C>G (p.His555Gln) rs886052334
NM_022041.4(GAN):c.1699C>A (p.Arg567Ser) rs886052335
NM_022041.4(GAN):c.1783C>T (p.His595Tyr) rs757216350
NM_022041.4(GAN):c.440A>G (p.His147Arg) rs763438490
NM_022041.4(GAN):c.56C>A (p.Ala19Glu) rs886052332
NM_022041.4(GAN):c.633+1G>A rs1597401738
NM_022124.6(CDH23):c.*588del rs148667421
NM_022124.6(CDH23):c.9510+19_9510+25del rs149704197
NM_022124.6(CDH23):c.9739-12G>A rs200638595
NM_022489.4(INF2):c.2845G>A (p.Ala949Thr) rs2140695225
NM_024407.5(NDUFS7):c.*13C>A rs11551663
NM_024407.5(NDUFS7):c.*3CCG[4] rs3065757
NM_024407.5(NDUFS7):c.*3CCG[5] rs3065757
NM_024407.5(NDUFS7):c.561C>A (p.Ala187=) rs144570086
NM_024577.3(SH3TC2):c.-92C>T rs886060200
NM_024577.4(SH3TC2):c.*10006A>T rs201998002
NM_024577.4(SH3TC2):c.*10010A>T rs886060145
NM_024577.4(SH3TC2):c.*10018A>T rs866934630
NM_024577.4(SH3TC2):c.*10022A>T rs56245745
NM_024577.4(SH3TC2):c.*10051ACCA[13] rs57301725
NM_024577.4(SH3TC2):c.*10051ACCA[14] rs57301725
NM_024577.4(SH3TC2):c.*10051ACCA[16] rs57301725
NM_024577.4(SH3TC2):c.*10060C>A rs886060143
NM_024577.4(SH3TC2):c.*10068C>A rs1042787317
NM_024577.4(SH3TC2):c.*10083A>G rs886060141
NM_024577.4(SH3TC2):c.*10103A>T rs754724940
NM_024577.4(SH3TC2):c.*10111_*10114del rs777886659
NM_024577.4(SH3TC2):c.*10230A>C rs1246060970
NM_024577.4(SH3TC2):c.*10395A>G rs1753468263
NM_024577.4(SH3TC2):c.*10560T>C rs1753464929
NM_024577.4(SH3TC2):c.*10614G>A rs114217114
NM_024577.4(SH3TC2):c.*10756G>T rs886060135
NM_024577.4(SH3TC2):c.*10765A>G rs1753461440
NM_024577.4(SH3TC2):c.*10802A>T rs547788921
NM_024577.4(SH3TC2):c.*11299C>G rs547464453
NM_024577.4(SH3TC2):c.*11506C>T rs886060131
NM_024577.4(SH3TC2):c.*11803A>G rs1051316908
NM_024577.4(SH3TC2):c.*11934A>G rs1753442184
NM_024577.4(SH3TC2):c.*12009T>C rs1753441242
NM_024577.4(SH3TC2):c.*12108_*12110del rs35182601
NM_024577.4(SH3TC2):c.*12109_*12110dup rs35182601
NM_024577.4(SH3TC2):c.*12110dup rs35182601
NM_024577.4(SH3TC2):c.*12111_*12112insAA rs886060126
NM_024577.4(SH3TC2):c.*12114dup rs886060125
NM_024577.4(SH3TC2):c.*12442A>G rs56848629
NM_024577.4(SH3TC2):c.*12752T>A rs886060120
NM_024577.4(SH3TC2):c.*13037G>A rs769382913
NM_024577.4(SH3TC2):c.*13293T>C rs886060119
NM_024577.4(SH3TC2):c.*14182A>G rs374261707
NM_024577.4(SH3TC2):c.*14188C>T rs532583447
NM_024577.4(SH3TC2):c.*1421A>C rs1753627085
NM_024577.4(SH3TC2):c.*14397A>C rs1753401888
NM_024577.4(SH3TC2):c.*14450A>C rs758906397
NM_024577.4(SH3TC2):c.*14781C>A rs886060117
NM_024577.4(SH3TC2):c.*147A>T rs147796833
NM_024577.4(SH3TC2):c.*15049A>T rs575869408
NM_024577.4(SH3TC2):c.*15311del rs886060114
NM_024577.4(SH3TC2):c.*15483T>C rs971207143
NM_024577.4(SH3TC2):c.*15823T>A rs4562031
NM_024577.4(SH3TC2):c.*15877G>T rs868551923
NM_024577.4(SH3TC2):c.*16015G>T rs994438752
NM_024577.4(SH3TC2):c.*16174A>G rs1753370916
NM_024577.4(SH3TC2):c.*16293C>G rs1753368592
NM_024577.4(SH3TC2):c.*16402G>T rs1753366817
NM_024577.4(SH3TC2):c.*16507C>T rs886060111
NM_024577.4(SH3TC2):c.*16509A>G rs886060110
NM_024577.4(SH3TC2):c.*16557T>A rs1389655483
NM_024577.4(SH3TC2):c.*16711C>G rs886060109
NM_024577.4(SH3TC2):c.*16856CA[21] rs71957589
NM_024577.4(SH3TC2):c.*16856CA[22] rs71957589
NM_024577.4(SH3TC2):c.*16856CA[24] rs71957589
NM_024577.4(SH3TC2):c.*16856CA[26] rs71957589
NM_024577.4(SH3TC2):c.*16902G>A rs886060107
NM_024577.4(SH3TC2):c.*16953T>C rs948858895
NM_024577.4(SH3TC2):c.*17036C>G rs75086059
NM_024577.4(SH3TC2):c.*17036C>T rs75086059
NM_024577.4(SH3TC2):c.*17301T>A rs1012900530
NM_024577.4(SH3TC2):c.*17482A>G rs1753346855
NM_024577.4(SH3TC2):c.*17837T>G rs1753341216
NM_024577.4(SH3TC2):c.*18234G>A rs886060102
NM_024577.4(SH3TC2):c.*18483dup rs536826583
NM_024577.4(SH3TC2):c.*18635C>T rs886060101
NM_024577.4(SH3TC2):c.*19111G>T rs1753319859
NM_024577.4(SH3TC2):c.*19137C>G rs773138258
NM_024577.4(SH3TC2):c.*19182A>C rs886060100
NM_024577.4(SH3TC2):c.*19406A>G rs72835351
NM_024577.4(SH3TC2):c.*19406A>T rs72835351
NM_024577.4(SH3TC2):c.*1946_*1947del rs397883732
NM_024577.4(SH3TC2):c.*19552G>T rs1410058775
NM_024577.4(SH3TC2):c.*19563_*19564dup rs5872105
NM_024577.4(SH3TC2):c.*19564dup rs5872105
NM_024577.4(SH3TC2):c.*1979C>T rs886060181
NM_024577.4(SH3TC2):c.*20086A>G rs1753304105
NM_024577.4(SH3TC2):c.*20099T>C rs73795728
NM_024577.4(SH3TC2):c.*20135C>T rs1753303246
NM_024577.4(SH3TC2):c.*20564A>T rs150905092
NM_024577.4(SH3TC2):c.*20919_*20920del rs886060096
NM_024577.4(SH3TC2):c.*21087A>G rs1753287119
NM_024577.4(SH3TC2):c.*21119G>T rs1326174533
NM_024577.4(SH3TC2):c.*2141C>T rs535223944
NM_024577.4(SH3TC2):c.*21474AAAC[2] rs146796490
NM_024577.4(SH3TC2):c.*22035G>A rs544954149
NM_024577.4(SH3TC2):c.*22291T>C rs886060091
NM_024577.4(SH3TC2):c.*22552_*22553dup rs55932017
NM_024577.4(SH3TC2):c.*22553del rs55932017
NM_024577.4(SH3TC2):c.*22553dup rs55932017
NM_024577.4(SH3TC2):c.*2923A>G rs1033163196
NM_024577.4(SH3TC2):c.*3035C>A rs183531576
NM_024577.4(SH3TC2):c.*3246A>C rs73795732
NM_024577.4(SH3TC2):c.*3313G>A rs1753595247
NM_024577.4(SH3TC2):c.*3438T>C rs367587126
NM_024577.4(SH3TC2):c.*3464C>T rs753332922
NM_024577.4(SH3TC2):c.*3497G>A rs1753591981
NM_024577.4(SH3TC2):c.*3589G>T rs1044470297
NM_024577.4(SH3TC2):c.*3946C>A rs1753583783
NM_024577.4(SH3TC2):c.*4183T>C rs886060176
NM_024577.4(SH3TC2):c.*4209A>G rs886060175
NM_024577.4(SH3TC2):c.*4240C>A rs765837919
NM_024577.4(SH3TC2):c.*4975T>C rs1753565926
NM_024577.4(SH3TC2):c.*5020C>T rs371723580
NM_024577.4(SH3TC2):c.*5279del rs573168274
NM_024577.4(SH3TC2):c.*5350G>A rs1753560296
NM_024577.4(SH3TC2):c.*5419G>A rs886060169
NM_024577.4(SH3TC2):c.*5634C>A rs565468168
NM_024577.4(SH3TC2):c.*574A>C rs74964033
NM_024577.4(SH3TC2):c.*623T>C rs886060190
NM_024577.4(SH3TC2):c.*6382T>C rs528052888
NM_024577.4(SH3TC2):c.*6392C>A rs114817736
NM_024577.4(SH3TC2):c.*6392C>T rs114817736
NM_024577.4(SH3TC2):c.*6510G>A rs116056843
NM_024577.4(SH3TC2):c.*6563_*6564del rs368030230
NM_024577.4(SH3TC2):c.*6627C>T rs536731603
NM_024577.4(SH3TC2):c.*6870ACA[1] rs567997802
NM_024577.4(SH3TC2):c.*7016ATATT[1] rs886060164
NM_024577.4(SH3TC2):c.*7152G>A rs1753532056
NM_024577.4(SH3TC2):c.*7189C>G rs886060163
NM_024577.4(SH3TC2):c.*7197G>C rs886060162
NM_024577.4(SH3TC2):c.*7256A>C rs886060161
NM_024577.4(SH3TC2):c.*7285G>C rs886060160
NM_024577.4(SH3TC2):c.*7291G>A rs748202204
NM_024577.4(SH3TC2):c.*7394A>G rs886060158
NM_024577.4(SH3TC2):c.*7451C>T rs114534145
NM_024577.4(SH3TC2):c.*7570G>A rs886060157
NM_024577.4(SH3TC2):c.*8038A>G rs988158680
NM_024577.4(SH3TC2):c.*8077A>G rs886060156
NM_024577.4(SH3TC2):c.*8216T>C rs886060155
NM_024577.4(SH3TC2):c.*8261G>A rs1753511260
NM_024577.4(SH3TC2):c.*8349T>C rs565407418
NM_024577.4(SH3TC2):c.*8364C>T rs886060154
NM_024577.4(SH3TC2):c.*839del rs886060189
NM_024577.4(SH3TC2):c.*8423T>C rs10036103
NM_024577.4(SH3TC2):c.*8424CT[7] rs146811206
NM_024577.4(SH3TC2):c.*8424CT[9] rs146811206
NM_024577.4(SH3TC2):c.*858_*861del rs5872107
NM_024577.4(SH3TC2):c.*8622del rs562125931
NM_024577.4(SH3TC2):c.*862del rs886060188
NM_024577.4(SH3TC2):c.*862dup rs886060187
NM_024577.4(SH3TC2):c.*8692T>C rs559844045
NM_024577.4(SH3TC2):c.*86C>T rs886060194
NM_024577.4(SH3TC2):c.*9121del rs886060149
NM_024577.4(SH3TC2):c.*9193A>G rs543374482
NM_024577.4(SH3TC2):c.*9340G>C rs886060147
NM_024577.4(SH3TC2):c.*9357T>C rs147996031
NM_024577.4(SH3TC2):c.*9357T>G rs147996031
NM_024577.4(SH3TC2):c.*9872T>C rs545698794
NM_024577.4(SH3TC2):c.*9974ATCC[11] rs201323132
NM_024577.4(SH3TC2):c.*9974ATCC[14] rs201323132
NM_024577.4(SH3TC2):c.*99G>A rs886060193
NM_024577.4(SH3TC2):c.1233_1235dup (p.His411dup) rs886060198
NM_024577.4(SH3TC2):c.1797G>A (p.Leu599=) rs200332172
NM_024577.4(SH3TC2):c.1831C>A (p.His611Asn) rs886060197
NM_024577.4(SH3TC2):c.1922G>T (p.Arg641Leu) rs199991156
NM_024577.4(SH3TC2):c.2094C>T (p.Ile698=) rs886060196
NM_024577.4(SH3TC2):c.255C>T (p.Asp85=) rs886060199
NM_024577.4(SH3TC2):c.2657G>A (p.Ser886Asn) rs780085307
NM_024577.4(SH3TC2):c.3303G>A (p.Arg1101=) rs755006924
NM_024577.4(SH3TC2):c.3433G>T (p.Ala1145Ser) rs141715248
NM_024577.4(SH3TC2):c.3594A>C (p.Pro1198=) rs6871030
NM_024577.4(SH3TC2):c.3594A>G (p.Pro1198=) rs6871030
NM_024577.4(SH3TC2):c.3600G>A (p.Leu1200=) rs886060195
NM_024577.4(SH3TC2):c.3676-13A>G rs1753660598
NM_024577.4(SH3TC2):c.3795G>C (p.Leu1265=) rs144873879
NM_024577.4(SH3TC2):c.529+7G>A rs747615694
NM_024577.4(SH3TC2):c.971G>A (p.Arg324Lys) rs1754316511
NM_030962.4(SBF2):c.*154C>T rs1590064987
NM_030962.4(SBF2):c.*375G>A rs533676532
NM_030962.4(SBF2):c.*375G>C rs533676532
NM_030962.4(SBF2):c.*447A>T rs192282549
NM_030962.4(SBF2):c.*882T>C rs886048775
NM_030962.4(SBF2):c.1413T>A (p.His471Gln) rs769911496
NM_030962.4(SBF2):c.1601-4C>G rs886048784
NM_030962.4(SBF2):c.1861-6T>C rs77334447
NM_030962.4(SBF2):c.23T>G (p.Phe8Cys) rs886047576
NM_030962.4(SBF2):c.2537-5C>T rs886048783
NM_030962.4(SBF2):c.2611-35AATC[4] rs202029370
NM_030962.4(SBF2):c.2863A>G (p.Lys955Glu) rs1856598871
NM_030962.4(SBF2):c.2870C>A (p.Thr957Lys) rs886048782
NM_030962.4(SBF2):c.3001A>T (p.Met1001Leu) rs781742897
NM_030962.4(SBF2):c.3003G>A (p.Met1001Ile) rs1856494115
NM_030962.4(SBF2):c.3016C>T (p.Pro1006Ser) rs886048781
NM_030962.4(SBF2):c.3257-5C>G rs886048780
NM_030962.4(SBF2):c.3292C>G (p.Leu1098Val) rs117957652
NM_030962.4(SBF2):c.3761T>C (p.Leu1254Pro) rs762211340
NM_030962.4(SBF2):c.409C>G (p.Leu137Val) rs200954150
NM_030962.4(SBF2):c.440G>A (p.Ser147Asn) rs1949190497
NM_030962.4(SBF2):c.479G>T (p.Cys160Phe) rs1214507322
NM_030962.4(SBF2):c.4825T>G (p.Ser1609Ala) rs1852579303
NM_030962.4(SBF2):c.5004C>G (p.Thr1668=) rs150598413
NM_030962.4(SBF2):c.5004C>T (p.Thr1668=) rs150598413
NM_030962.4(SBF2):c.513+5A>G rs1949186125
NM_030962.4(SBF2):c.5135G>A (p.Gly1712Glu) rs757214892
NM_030962.4(SBF2):c.5179C>G (p.Arg1727Gly) rs750756174
NM_030962.4(SBF2):c.5296G>A (p.Val1766Ile) rs886048779
NM_030962.4(SBF2):c.5503G>A (p.Ala1835Thr) rs886048778
NM_033305.2(VPS13A):c.-183G>A rs12349389
NM_033305.2(VPS13A):c.-183G>C rs12349389
NM_033305.2(VPS13A):c.-232G>C rs545092496
NM_033305.2(VPS13A):c.-264G>C rs542679691
NM_033305.3(VPS13A):c.*106T>G rs1835160786
NM_033305.3(VPS13A):c.*1133A>C rs182044001
NM_033305.3(VPS13A):c.*1248_*1251dup rs1057515668
NM_033305.3(VPS13A):c.*133CAAA[1] rs914078686
NM_033305.3(VPS13A):c.*274AGA[1] rs147672353
NM_033305.3(VPS13A):c.*409A>G rs975807327
NM_033305.3(VPS13A):c.*694C>A rs115104076
NM_033305.3(VPS13A):c.*774_*776del rs549219168
NM_033305.3(VPS13A):c.*81A>G rs1057515661
NM_033305.3(VPS13A):c.*990T>A rs1203318328
NM_033305.3(VPS13A):c.-16A>T rs372360076
NM_033305.3(VPS13A):c.1155T>C (p.Ser385=) rs774931205
NM_033305.3(VPS13A):c.1303T>C (p.Trp435Arg) rs550188251
NM_033305.3(VPS13A):c.1596-10_1596-8del rs748907586
NM_033305.3(VPS13A):c.159A>G (p.Val53=) rs1057515645
NM_033305.3(VPS13A):c.1744T>C (p.Cys582Arg) rs1057515651
NM_033305.3(VPS13A):c.1792G>C (p.Val598Leu) rs759600403
NM_033305.3(VPS13A):c.1900+9C>T rs773690202
NM_033305.3(VPS13A):c.2136A>C (p.Gln712His) rs1389344705
NM_033305.3(VPS13A):c.2175T>G (p.Asp725Glu) rs1057515652
NM_033305.3(VPS13A):c.2475A>G (p.Ile825Met) rs1826457641
NM_033305.3(VPS13A):c.2723T>A (p.Ile908Asn) rs1826653395
NM_033305.3(VPS13A):c.2783C>A (p.Ala928Asp) rs757651034
NM_033305.3(VPS13A):c.283+20del rs199782752
NM_033305.3(VPS13A):c.2841A>G (p.Pro947=) rs1826936558
NM_033305.3(VPS13A):c.2869A>G (p.Thr957Ala) rs1248091059
NM_033305.3(VPS13A):c.295_297del (p.Asp99del) rs759258746
NM_033305.3(VPS13A):c.3340-5_3340-3del rs746510956
NM_033305.3(VPS13A):c.3961-6del rs3216012
NM_033305.3(VPS13A):c.3961-6dup rs3216012
NM_033305.3(VPS13A):c.4190G>A (p.Ser1397Asn) rs1392223813
NM_033305.3(VPS13A):c.4223A>G (p.Tyr1408Cys) rs1829245513
NM_033305.3(VPS13A):c.496-9C>T rs370541609
NM_033305.3(VPS13A):c.5156G>T (p.Gly1719Val) rs1829532129
NM_033305.3(VPS13A):c.5481A>G (p.Pro1827=) rs1829726014
NM_033305.3(VPS13A):c.5532A>C (p.Thr1844=) rs370144264
NM_033305.3(VPS13A):c.6039C>A (p.Thr2013=) rs528628591
NM_033305.3(VPS13A):c.649A>G (p.Asn217Asp) rs1826073644
NM_033305.3(VPS13A):c.6591T>C (p.Ala2197=) rs1057515657
NM_033305.3(VPS13A):c.667T>G (p.Phe223Val) rs1287394997
NM_033305.3(VPS13A):c.6880-6dup rs140476942
NM_033305.3(VPS13A):c.7044T>A (p.Pro2348=) rs143259810
NM_033305.3(VPS13A):c.7155+14dup rs747383490
NM_033305.3(VPS13A):c.7231G>T (p.Ala2411Ser) rs760875004
NM_033305.3(VPS13A):c.7237A>G (p.Thr2413Ala) rs1057515659
NM_033305.3(VPS13A):c.7953G>C (p.Gln2651His) rs774310423
NM_033305.3(VPS13A):c.8472-11G>T rs1281741862
NM_033305.3(VPS13A):c.9193A>G (p.Met3065Val) rs1057515660
NM_033305.3(VPS13A):c.9326G>A (p.Trp3109Ter) rs773932109
NM_033305.3(VPS13A):c.989+28del rs751974264
NM_078470.6(COX15):c.*1242A>G rs2036459883
NM_078470.6(COX15):c.*1361C>T rs886046610
NM_078470.6(COX15):c.*1793G>A rs574149332
NM_078470.6(COX15):c.*1957A>C rs2036431642
NM_078470.6(COX15):c.*2301G>A rs79573437
NM_078470.6(COX15):c.*2301G>C rs79573437
NM_078470.6(COX15):c.*2459G>T rs886046605
NM_078470.6(COX15):c.*2490T>C rs886046604
NM_078470.6(COX15):c.*2595C>T rs574033399
NM_078470.6(COX15):c.*2668C>G rs886046603
NM_078470.6(COX15):c.*3362T>C rs1296504635
NM_078470.6(COX15):c.*3638C>T rs2036362442
NM_078470.6(COX15):c.-26A>G rs2231677
NM_078470.6(COX15):c.-71T>C rs886046612
NM_078470.6(COX15):c.1029C>A (p.Leu343=) rs757725009
NM_078470.6(COX15):c.406G>C (p.Asp136His) rs766429756
NM_078470.6(COX15):c.717G>T (p.Trp239Cys) rs886046611
NM_078470.6(COX15):c.988-3C>T rs745556177
NM_078470.6(COX15):c.988-8C>A rs542092025
NM_133259.4(LRPPRC):c.*1355C>T rs1670301374
NM_133259.4(LRPPRC):c.*1387_*1390dup rs886056048
NM_133259.4(LRPPRC):c.*1435del rs886056047
NM_133259.4(LRPPRC):c.*1445_*1456dup rs57494476
NM_133259.4(LRPPRC):c.*1449_*1456dup rs57494476
NM_133259.4(LRPPRC):c.*1498G>A rs142253135
NM_133259.4(LRPPRC):c.*1652C>G rs1139249
NM_133259.4(LRPPRC):c.*1653G>T rs886056045
NM_133259.4(LRPPRC):c.*1665C>G rs1139250
NM_133259.4(LRPPRC):c.*1684C>A rs190524585
NM_133259.4(LRPPRC):c.*1685G>A rs774874630
NM_133259.4(LRPPRC):c.*1689G>T rs185767322
NM_133259.4(LRPPRC):c.*1717C>T rs1670288685
NM_133259.4(LRPPRC):c.*1752C>G rs1670287619
NM_133259.4(LRPPRC):c.*1806A>C rs886056044
NM_133259.4(LRPPRC):c.*1895G>T rs886056042
NM_133259.4(LRPPRC):c.*2041C>A rs7581308
NM_133259.4(LRPPRC):c.*2041C>T rs7581308
NM_133259.4(LRPPRC):c.*2042G>T rs998481979
NM_133259.4(LRPPRC):c.*2048dup rs546907287
NM_133259.4(LRPPRC):c.*2157T>A rs1376980323
NM_133259.4(LRPPRC):c.*590C>T rs886056050
NM_133259.4(LRPPRC):c.*647G>C rs886056049
NM_133259.4(LRPPRC):c.*735C>G rs1670322978
NM_133259.4(LRPPRC):c.1038C>T (p.Val346=) rs1673950899
NM_133259.4(LRPPRC):c.1156-13dup rs747766605
NM_133259.4(LRPPRC):c.1343G>T (p.Gly448Val) rs886056058
NM_133259.4(LRPPRC):c.135C>T (p.Ala45=) rs886056061
NM_133259.4(LRPPRC):c.1419T>C (p.Asp473=) rs886056057
NM_133259.4(LRPPRC):c.1491A>T (p.Glu497Asp) rs571886021
NM_133259.4(LRPPRC):c.1623A>T (p.Arg541Ser) rs1673163352
NM_133259.4(LRPPRC):c.1674C>T (p.Ser558=) rs376787135
NM_133259.4(LRPPRC):c.1677+11C>G rs58811869
NM_133259.4(LRPPRC):c.1735+5C>G rs373476696
NM_133259.4(LRPPRC):c.1762T>G (p.Leu588Val) rs775978547
NM_133259.4(LRPPRC):c.2471T>G (p.Ile824Arg) rs774104921
NM_133259.4(LRPPRC):c.2545T>C (p.Tyr849His) rs1672219378
NM_133259.4(LRPPRC):c.2680C>T (p.Leu894Phe) rs886056055
NM_133259.4(LRPPRC):c.2966G>A (p.Arg989His) rs774857058
NM_133259.4(LRPPRC):c.3093A>C (p.Thr1031=) rs768083517
NM_133259.4(LRPPRC):c.3451A>G (p.Met1151Val) rs1670882770
NM_133259.4(LRPPRC):c.346+9A>C rs754438818
NM_133259.4(LRPPRC):c.3659A>C (p.Tyr1220Ser) rs775734947
NM_133259.4(LRPPRC):c.4156C>G (p.Leu1386Val) rs886056053
NM_133259.4(LRPPRC):c.441T>C (p.His147=) rs886056060
NM_133259.4(LRPPRC):c.5C>T (p.Ala2Val) rs1380043598
NM_133259.4(LRPPRC):c.7G>A (p.Ala3Thr) rs200686732
NM_133259.4(LRPPRC):c.803A>G (p.Asp268Gly) rs143290138
NM_133259.4(LRPPRC):c.844G>A (p.Asp282Asn) rs1559043209
NM_133259.4(LRPPRC):c.864+11T>G rs193090896
NM_170707.4(LMNA):c.-142C>A rs886045358
NM_170707.4(LMNA):c.-183C>A rs886045357
NM_170707.4(LMNA):c.-5C>A rs886045362
NM_170707.4(LMNA):c.-62C>A rs886045361
NM_170707.4(LMNA):c.-88G>T rs115800510
NM_170707.4(LMNA):c.1338T>G (p.Asp446Glu) rs505058
NM_170707.4(LMNA):c.1445G>T (p.Arg482Leu) rs11575937
NM_170707.4(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_170707.4(LMNA):c.1698+124C>T rs1057516022
NM_170707.4(LMNA):c.356+12C>A rs1649747809
NM_170707.4(LMNA):c.796A>G (p.Thr266Ala) rs1651418246
NM_170707.4(LMNA):c.985C>A (p.Arg329Ser) rs775159300
NM_174889.4(NDUFAF2):c.-110A>C rs886060723
NM_174889.4(NDUFAF2):c.-91C>T rs4647036
NM_174889.5(NDUFAF2):c.-23GC[3] rs886060725
NM_174889.5(NDUFAF2):c.128-14C>G rs537327206
NM_174889.5(NDUFAF2):c.136A>G (p.Ile46Val) rs1752321893
NM_174936.3(PCSK9):c.-353G>T rs886046425
NM_174936.4(PCSK9):c.*1154C>A rs886046451
NM_174936.4(PCSK9):c.*1170_*1173dup rs377553033
NM_174936.4(PCSK9):c.*1229G>T rs886046453
NM_174936.4(PCSK9):c.*1247AAAC[2] rs368406783
NM_174936.4(PCSK9):c.*152G>T rs886046438
NM_174936.4(PCSK9):c.*274C>A rs886046439
NM_174936.4(PCSK9):c.*404G>A rs886046440
NM_174936.4(PCSK9):c.*404G>C rs886046440
NM_174936.4(PCSK9):c.*426C>A rs886046441
NM_174936.4(PCSK9):c.*448dup rs72646533
NM_174936.4(PCSK9):c.*464C>A rs886046442
NM_174936.4(PCSK9):c.*470G>A rs886046443
NM_174936.4(PCSK9):c.*488C>A rs886046444
NM_174936.4(PCSK9):c.*509C>A rs886046445
NM_174936.4(PCSK9):c.*58A>G rs886046437
NM_174936.4(PCSK9):c.*785C>A rs886046448
NM_174936.4(PCSK9):c.*78C>T rs757944328
NM_174936.4(PCSK9):c.*846G>T rs886046449
NM_174936.4(PCSK9):c.-180T>G rs886046431
NM_174936.4(PCSK9):c.-185A>G rs886046430
NM_174936.4(PCSK9):c.-200C>A rs886046429
NM_174936.4(PCSK9):c.-221T>G rs886046428
NM_174936.4(PCSK9):c.-237T>G rs886046427
NM_174936.4(PCSK9):c.1303_1304delinsTGGAACTGGTCCCCCAACTGGGTGGA (p.Val435delinsTrpAsnTrpSerProAsnTrpValGlu) rs886046432
NM_181882.3(PRX):c.-199+7G>C rs541213273
NM_181882.3(PRX):c.1087C>G (p.Pro363Ala) rs886054439
NM_181882.3(PRX):c.1547G>A (p.Arg516Gln) rs1035002145
NM_181882.3(PRX):c.1818G>A (p.Pro606=) rs768022787
NM_181882.3(PRX):c.184+3G>T rs944519032
NM_181882.3(PRX):c.1868T>G (p.Leu623Arg) rs2079438528
NM_181882.3(PRX):c.1869T>G (p.Leu623=) rs1241434904
NM_181882.3(PRX):c.1891C>G (p.Leu631Val) rs886054438
NM_181882.3(PRX):c.2071A>C (p.Met691Leu) rs886054437
NM_181882.3(PRX):c.2215G>A (p.Asp739Asn) rs779294844
NM_181882.3(PRX):c.2261G>A (p.Arg754Gln) rs760071236
NM_181882.3(PRX):c.2292C>G (p.Pro764=) rs142637195
NM_181882.3(PRX):c.2509C>T (p.Leu837=) rs1177784082
NM_181882.3(PRX):c.2697C>T (p.Pro899=) rs778762350
NM_181882.3(PRX):c.2746G>C (p.Gly916Arg) rs775152960
NM_181882.3(PRX):c.3220G>A (p.Ala1074Thr) rs886054436
NM_181882.3(PRX):c.379C>T (p.Leu127=) rs886054441
NM_181882.3(PRX):c.3868G>A (p.Glu1290Lys) rs773955274
NM_181882.3(PRX):c.3926C>T (p.Pro1309Leu) rs2079409567
NM_181882.3(PRX):c.4171C>G (p.Arg1391Gly) rs369072136
NM_181882.3(PRX):c.4279G>T (p.Asp1427Tyr) rs2079404139
NM_181882.3(PRX):c.445G>T (p.Ala149Ser) rs142436391
NM_181882.3(PRX):c.844G>C (p.Ala282Pro) rs769945580
NM_198252.3(GSN):c.*28G>A rs376801564
NM_198252.3(GSN):c.-4C>G rs2059919681
NM_198252.3(GSN):c.-9-2066_-9-2060del rs1564468965
NM_198252.3(GSN):c.-9-2137C>T rs886063404
NM_198252.3(GSN):c.1171G>A (p.Asp391Asn) rs142034230
NM_198252.3(GSN):c.1547A>G (p.Gln516Arg) rs780840732
NM_198252.3(GSN):c.1577G>A (p.Arg526Gln) rs528604896
NM_198252.3(GSN):c.1657C>G (p.Leu553Val) rs2063344146
NM_198252.3(GSN):c.2002G>A (p.Glu668Lys) rs886063407
NM_198252.3(GSN):c.231C>A (p.Ala77=) rs140734150
NM_198252.3(GSN):c.440T>C (p.Val147Ala) rs2061027102
NM_198252.3(GSN):c.509G>C (p.Gly170Ala) rs2061035565
NM_198252.3(GSN):c.914A>G (p.Lys305Arg) rs2061970047
NM_198252.3(GSN):c.998G>T (p.Gly333Val) rs1014328091

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