ClinVar Miner

List of variants reported as benign for amino acid metabolism disease by Illumina Laboratory Services, Illumina

Included ClinVar conditions (436):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1914
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HGVS dbSNP gnomAD frequency
NM_001081.4(CUBN):c.8150C>G (p.Ser2717Trp) rs2796835 0.99996
NM_001081.4(CUBN):c.6485G>A (p.Cys2162Tyr) rs1276712 0.99748
NM_015702.3(MMADHC):c.*89T>C rs6742604 0.99742
NM_004937.3(CTNS):c.*738T>G rs224562 0.99537
NM_203288.2(RP9):c.314-9C>T rs6462460 0.99344
NM_201548.5(CERKL):c.*1345G>A rs2368214 0.99254
NM_201548.5(CERKL):c.*880G>A rs1037623 0.99241
NM_201548.5(CERKL):c.1506C>T (p.Asp502=) rs10180793 0.99229
NM_006915.3(RP2):c.*828G>A rs4239962 0.99135
NM_001609.4(ACADSB):c.*3234C>G rs3763738 0.98476
NM_001609.4(ACADSB):c.*3819A>G rs3980942 0.98475
NM_001029883.3(PCARE):c.*2585A>G rs7570356 0.98340
NM_032180.2(FAM161A):c.-41T>C rs1881616 0.98184
NM_001201543.2(FAM161A):c.1212T>C (p.Cys404=) rs4672457 0.98181
NM_005589.4(ALDH6A1):c.*142C>T rs8017248 0.98056
NM_000126.4(ETFA):c.*216A>T rs1803550 0.97654
NM_000161.3(GCH1):c.-121T>C rs1753589 0.96017
NM_183050.4(BCKDHB):c.*395G>T rs4706116 0.95752
NM_153006.3(NAGS):c.1451+9T>C rs228773 0.93334
NM_000207.3(INS):c.187+11T>C rs5506 0.93263
NM_001029883.3(PCARE):c.*2929T>C rs11683284 0.93001
NM_000322.5(PRPH2):c.929G>A (p.Arg310Lys) rs425876 0.92861
NM_020686.6(ABAT):c.*1933T>C rs4985036 0.92763
NM_000191.3(HMGCL):c.654A>G (p.Leu218=) rs719400 0.92712
NM_000191.3(HMGCL):c.*486G>A rs11714 0.91585
NM_000326.5(RLBP1):c.*167T>G rs834 0.89555
NM_020166.5(MCCC1):c.396C>T (p.Leu132=) rs7622479 0.89165
NM_003322.6(TULP1):c.200C>G (p.Thr67Arg) rs7764472 0.88862
NM_001609.4(ACADSB):c.*1868C>G rs10902868 0.88218
NM_153006.3(NAGS):c.*211C>T rs640631 0.86592
NM_020686.6(ABAT):c.448-15T>A rs2302608 0.86261
NM_001081.4(CUBN):c.2791+9C>T rs10795440 0.85809
NM_002108.4(HAL):c.1315G>A (p.Val439Ile) rs7297245 0.85575
NM_004937.3(CTNS):c.779C>T (p.Thr260Ile) rs161400 0.84806
NM_003322.6(TULP1):c.783G>C (p.Lys261Asn) rs2064318 0.84569
NM_001029883.3(PCARE):c.*2670T>C rs10185075 0.84450
NM_002108.4(HAL):c.1353+13A>G rs6538694 0.82983
NM_006721.4(ADK):c.*648C>T rs1189553 0.82915
NM_016247.4(IMPG2):c.*380C>A rs488679 0.82759
NM_000274.3(OAT):c.-94T>G rs4144117 0.82728
NM_004937.3(CTNS):c.*2383dup rs397702352 0.82623
NM_022132.5(MCCC2):c.1368A>G (p.Ala456=) rs10064079 0.82429
NM_000274.4(OAT):c.648+14A>G rs9422807 0.81973
NM_016247.4(IMPG2):c.*568C>A rs486814 0.80464
NM_016247.4(IMPG2):c.3381C>T (p.Leu1127=) rs348867 0.80304
NM_016247.4(IMPG2):c.*3780T>A rs511575 0.80280
NM_058179.4(PSAT1):c.-12G>C rs2277148 0.80020
NM_015702.3(MMADHC):c.453G>A (p.Gln151=) rs11545261 0.78682
NM_000322.5(PRPH2):c.910C>G (p.Gln304Glu) rs390659 0.78498
NM_001918.5(DBT):c.*5546G>A rs11166412 0.78278
NM_183050.4(BCKDHB):c.*627T>C rs4706838 0.78227
NM_183050.4(BCKDHB):c.*2271G>A rs15062 0.78187
NM_183050.4(BCKDHB):c.*994G>A rs4502885 0.78179
NM_183050.4(BCKDHB):c.*1875G>A rs7759304 0.78177
NM_183050.4(BCKDHB):c.*2282C>T rs10864 0.78176
NM_183050.4(BCKDHB):c.*1892T>C rs7740958 0.78169
NM_183050.4(BCKDHB):c.*1778A>G rs7758761 0.78168
NM_183050.4(BCKDHB):c.*304G>A rs926731 0.78168
NM_022132.5(MCCC2):c.*247C>T rs1135667 0.78164
NM_183050.4(BCKDHB):c.*1241A>G rs1042368 0.78159
NM_183050.4(BCKDHB):c.*293T>C rs926732 0.78149
NM_183050.4(BCKDHB):c.*1810T>C rs7740932 0.78143
NM_183050.4(BCKDHB):c.*789C>T rs4706118 0.78112
NM_183050.4(BCKDHB):c.*805T>C rs4706839 0.78101
NM_003982.4(SLC7A7):c.1527A>G (p.Lys509=) rs1061040 0.77937
NM_183050.4(BCKDHB):c.*121G>A rs926733 0.77743
NM_183050.4(BCKDHB):c.*1444T>C rs3805848 0.77735
NM_001297.5(CNGB1):c.2635-10C>T rs437920 0.77649
NM_000322.5(PRPH2):c.1013A>G (p.Asp338Gly) rs434102 0.77412
NM_000322.5(PRPH2):c.*1375C>T rs405043 0.77180
NM_000322.5(PRPH2):c.*1357C>T rs405059 0.77171
NM_000322.5(PRPH2):c.*543G>A rs432753 0.77168
NM_000322.5(PRPH2):c.*762C>T rs1758213 0.77165
NM_001142800.2(EYS):c.4256T>C (p.Leu1419Ser) rs624851 0.77065
NM_025136.4(OPA3):c.*6790T>C rs10422253 0.76137
NM_183050.4(BCKDHB):c.*1142C>G rs1042367 0.75871
NM_000341.4(SLC3A1):c.114A>C (p.Gly38=) rs3738985 0.75388
NM_000187.4(HGD):c.240A>T (p.Gln80His) rs2255543 0.75354
NM_006721.4(ADK):c.66-23911C>T rs10824095 0.74804
NM_001918.5(DBT):c.*3233C>T rs2784174 0.74803
NM_001918.5(DBT):c.*5150A>G rs6701655 0.74788
NM_000281.4(PCBD1):c.*36G>A rs9712 0.74730
NM_001918.5(DBT):c.*6228A>T rs4281338 0.74605
NM_003060.4(SLC22A5):c.*843T>C rs274548 0.74357
NM_003060.4(SLC22A5):c.*1340A>T rs274547 0.74351
NM_014336.5(AIPL1):c.651A>G (p.Pro217=) rs2292546 0.73525
NM_003060.4(SLC22A5):c.*959_*960insC rs144261584 0.73243
NM_206933.4(USH2A):c.373G>A (p.Ala125Thr) rs10779261 0.73169
NM_001081.4(CUBN):c.4563T>A (p.Ile1521=) rs1801229 0.73095
NM_001081.4(CUBN):c.4675C>T (p.Pro1559Ser) rs1801231 0.73090
NM_001081.4(CUBN):c.758T>C (p.Phe253Ser) rs1801222 0.72079
NM_003748.4(ALDH4A1):c.1050G>C (p.Ala350=) rs2230705 0.71986
NM_000687.3(AHCY):c.-124C>A rs819146 0.71726
NM_004937.3(CTNS):c.*2306T>C rs161397 0.71652
NM_012463.4(ATP6V0A2):c.1515T>C (p.Asn505=) rs7135542 0.71178
NM_003748.4(ALDH4A1):c.1380T>C (p.Asp460=) rs2230708 0.71129
NM_004577.4(PSPH):c.*361A>G rs4947534 0.70873
NM_025136.4(OPA3):c.231T>C (p.Ala77=) rs3826860 0.70508
NM_000170.3(GLDC):c.*540C>T rs7848919 0.70462
NM_012463.4(ATP6V0A2):c.*1693C>G rs10846553 0.70431
NM_001081.4(CUBN):c.9843A>G (p.Thr3281=) rs703064 0.70381
NM_025136.4(OPA3):c.*1950G>A rs4404183 0.69999
NM_006623.4(PHGDH):c.1326G>A (p.Thr442=) rs543703 0.69798
NM_025136.4(OPA3):c.*3387G>A rs3760844 0.69742
NM_025136.4(OPA3):c.*4318T>C rs4802261 0.69665
NM_201548.5(CERKL):c.*121C>T rs6747500 0.68932
NM_000554.6(CRX):c.*1455T>A rs10418834 0.68727
NM_000554.6(CRX):c.*2183T>C rs7259671 0.68119
NM_000170.3(GLDC):c.*473C>T rs1061407 0.67774
NM_014251.3(SLC25A13):c.328+6A>G rs6957975 0.67687
NM_001142800.2(EYS):c.1300-3C>T rs1936439 0.67522
NM_001142800.2(EYS):c.2555T>C (p.Leu852Pro) rs9294631 0.67363
NM_004937.3(CTNS):c.*1440A>G rs161398 0.67203
NM_004453.4(ETFDH):c.92C>T (p.Thr31Ile) rs11559290 0.67086
NM_183050.4(BCKDHB):c.*345C>T rs1811844 0.66759
NM_000709.4(BCKDHA):c.1221A>G (p.Leu407=) rs4674 0.66668
NM_000170.3(GLDC):c.*7G>C rs2228098 0.66615
NM_000108.5(DLD):c.*487C>T rs4518 0.66588
NM_000709.4(BCKDHA):c.972C>T (p.Phe324=) rs284652 0.66509
NM_012463.4(ATP6V0A2):c.426T>C (p.Asn142=) rs1139789 0.66312
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_006899.5(IDH3B):c.118-3G>C rs2073193 0.66092
NM_012463.4(ATP6V0A2):c.471T>C (p.Ser157=) rs1399961 0.66054
NM_025136.4(OPA3):c.*152G>A rs3826861 0.66011
NM_012463.4(ATP6V0A2):c.432+14C>T rs11837144 0.65907
NM_000108.5(DLD):c.*207G>A rs4564 0.65906
NM_000440.3(PDE6A):c.*756T>C rs4705388 0.65681
NM_000016.6(ACADM):c.*878T>C rs1146587 0.65645
NM_003748.4(ALDH4A1):c.*763T>C rs1138267 0.65227
NM_001875.5(CPS1):c.2679C>G (p.Gly893=) rs2287599 0.64925
NM_002291.3(LAMB1):c.5225-7C>T rs3213673 0.64814
NM_000320.3(QDPR):c.*510C>T rs1031327 0.64808
NM_016247.4(IMPG2):c.2021C>T (p.Thr674Ile) rs571391 0.64801
NM_000320.3(QDPR):c.*468A>C rs699460 0.64794
NM_000440.3(PDE6A):c.*608T>C rs4705389 0.64714
NM_000320.3(QDPR):c.*220T>C rs1049581 0.64638
NM_000320.3(QDPR):c.*221G>A rs1049582 0.64635
NM_016247.4(IMPG2):c.*4121T>G rs813449 0.64343
NM_000440.3(PDE6A):c.*796A>G rs4705387 0.64137
NM_014270.5(SLC7A9):c.-172T>A rs2287876 0.63605
NM_001171613.2(PREPL):c.*586A>G rs8886 0.63581
NM_014336.5(AIPL1):c.*606G>A rs10852881 0.63496
NM_003748.4(ALDH4A1):c.1230A>G (p.Ser410=) rs7550938 0.63458
NM_003748.4(ALDH4A1):c.1221A>G (p.Ala407=) rs2230706 0.63390
NM_058179.4(PSAT1):c.297T>G (p.Ala99=) rs3739474 0.62693
NM_002225.5(IVD):c.234+14T>C rs2289331 0.62561
NM_020686.6(ABAT):c.*2114G>A rs11648372 0.62549
NM_000440.3(PDE6A):c.*1365G>A rs888895 0.62508
NM_006343.3(MERTK):c.1552A>G (p.Ile518Val) rs2230515 0.62489
NM_006343.3(MERTK):c.1397G>A (p.Arg466Lys) rs7604639 0.62439
NM_020686.6(ABAT):c.*990G>C rs4985000 0.62271
NM_020686.6(ABAT):c.*2567C>G rs12597124 0.62254
NM_001012720.2(RGR):c.27T>C (p.Thr9=) rs2279227 0.62051
NM_002108.4(HAL):c.485-5T>C rs2302629 0.61949
NM_006623.3(PHGDH):c.-140A>G rs561931 0.61476
NM_206933.4(USH2A):c.504A>G (p.Thr168=) rs4253963 0.61366
NM_000440.3(PDE6A):c.*2009T>C rs2005909 0.61189
NM_000320.3(QDPR):c.*690A>G rs1031326 0.61178
NM_000341.4(SLC3A1):c.1332+7C>T rs3738984 0.61143
NM_000183.2(HADHB):c.-201G>A rs3806516 0.60985
NM_014336.5(AIPL1):c.300A>G (p.Leu100=) rs8075035 0.60839
NM_020166.4(MCCC1):c.-100G>C rs937652 0.60097
NM_000322.5(PRPH2):c.318T>C (p.Val106=) rs7764439 0.59853
NM_001875.5(CPS1):c.1032C>T (p.Thr344=) rs2229589 0.59558
NM_000017.4(ACADS):c.990C>T (p.Arg330=) rs3915 0.59445
NM_000207.3(INS):c.-17-6T>A rs689 0.59334
NM_000207.3(INS):c.*22A>C rs3842753 0.59307
NM_000440.3(PDE6A):c.*2110A>G rs759816 0.59199
NM_002225.5(IVD):c.*2275T>C rs11790 0.59170
NM_000709.4(BCKDHA):c.376-10A>C rs3213861 0.59120
NM_000255.4(MMUT):c.2011A>G (p.Ile671Val) rs8589 0.58978
NM_003322.6(TULP1):c.*318T>G rs1051952 0.58855
NM_006343.3(MERTK):c.757+13T>C rs3761701 0.58627
NM_000255.4(MMUT):c.636G>A (p.Lys212=) rs2229384 0.58567
NM_201548.5(CERKL):c.1133+13T>C rs12997453 0.58511
NM_003060.4(SLC22A5):c.-207C>G rs2631367 0.58257
NM_000283.4(PDE6B):c.*12A>G rs28675771 0.58217
NM_020166.5(MCCC1):c.1391A>C (p.His464Pro) rs2270968 0.58081
NM_003982.4(SLC7A7):c.159G>A (p.Ser53=) rs1805059 0.57983
NM_001081.4(CUBN):c.1165C>A (p.Pro389Thr) rs1801224 0.57919
NM_052845.4(MMAB):c.716T>A (p.Met239Lys) rs9593 0.57816
NM_006343.3(MERTK):c.1881A>G (p.Ser627=) rs1131244 0.57808
NM_052845.4(MMAB):c.*1230G>T rs11067231 0.57792
NM_052845.4(MMAB):c.*857G>C rs877710 0.57567
NM_025136.4(OPA3):c.*6012A>G rs11083772 0.57481
NM_002225.5(IVD):c.*1471G>A rs4923865 0.56828
NM_018368.4(LMBRD1):c.*341C>T rs9185 0.56654
NM_000018.4(ACADVL):c.1605+6T>C rs17671352 0.56622
NM_014252.3(SLC25A15):c.-274T>C rs7997189 0.56484
NM_033100.4(CDHR1):c.*2798G>A rs10509491 0.56109
NM_001482.3(GATM):c.*940C>T rs1049518 0.55910
NM_001029883.3(PCARE):c.*2754A>G rs10187620 0.55841
NM_003982.4(SLC7A7):c.-86T>C rs2281677 0.55817
NM_001482.3(GATM):c.1252T>C (p.Leu418=) rs1145086 0.55793
NM_001029883.3(PCARE):c.*1542A>G rs719691 0.55697
NM_153006.3(NAGS):c.*3C>T rs186636 0.54224
NM_020686.6(ABAT):c.*1131G>A rs7205816 0.54125
NM_001029883.3(PCARE):c.*2104T>C rs1562391 0.54027
NM_001029883.3(PCARE):c.*2160G>A rs1562392 0.53975
NM_012463.4(ATP6V0A2):c.*1128T>C rs10744162 0.53964
NM_001029883.3(PCARE):c.*2022G>A rs4464231 0.53604
NM_006017.3(PROM1):c.*1078A>G rs3130 0.53265
NM_003982.4(SLC7A7):c.498T>C (p.Ile166=) rs8018462 0.53238
NM_002098.6(GUCA1B):c.171T>C (p.Tyr57=) rs3749921 0.53171
NM_020686.6(ABAT):c.167A>G (p.Gln56Arg) rs1731017 0.53047
NM_012463.4(ATP6V0A2):c.*3425G>A rs2333834 0.52752
NM_001142800.2(EYS):c.1146T>C (p.Asn382=) rs974110 0.52503
NM_014336.5(AIPL1):c.277-10A>C rs12453262 0.52383
NM_022367.4(SEMA4A):c.1716C>T (p.Pro572=) rs12401573 0.52167
NM_014336.5(AIPL1):c.*753G>A rs62060993 0.51826
NM_001029883.3(PCARE):c.*1663C>T rs958584 0.51823
NM_000017.4(ACADS):c.321T>C (p.Arg107=) rs3914 0.51709
NM_172250.3(MMAA):c.*2608T>C rs7699187 0.51441
NM_172250.3(MMAA):c.*2768A>T rs7699166 0.51403
NM_001081.4(CUBN):c.5856A>G (p.Ser1952=) rs1801234 0.50897
NM_001012720.2(RGR):c.459C>T (p.Tyr153=) rs1042454 0.50840
NM_001033859.2(ACADVL):c.-63_-49dup rs6145976 0.50677
NM_001142800.2(EYS):c.1809C>T (p.Val603=) rs9345601 0.50550
NM_001142800.2(EYS):c.1891G>A (p.Gly631Ser) rs9342464 0.50535
NM_001354768.3(NRL):c.*221G>A rs3561 0.50091
NM_020686.6(ABAT):c.169-5T>C rs1641010 0.49394
NM_001297.5(CNGB1):c.2218-12C>T rs483053 0.49292
NM_015702.3(MMADHC):c.*126A>G rs6923 0.49161
NM_002602.4(PDE6G):c.*570T>C rs3432 0.49130
NM_002602.4(PDE6G):c.*233T>C rs8908 0.49123
NM_001029883.3(PCARE):c.*2525G>A rs7607027 0.48359
NM_004183.4(BEST1):c.109T>C (p.Leu37=) rs1800007 0.48331
NM_002225.5(IVD):c.*1577C>G rs11630850 0.47386
NM_003748.4(ALDH4A1):c.1251C>T (p.Ala417=) rs2230707 0.47295
NM_001077620.3(PRCD):c.*1397A>G rs4232870 0.47066
NM_001297.5(CNGB1):c.1122-15C>T rs2303778 0.46316
NM_001482.3(GATM):c.*715T>C rs1049508 0.46090
NM_014049.5(ACAD9):c.379A>C (p.Arg127=) rs1680778 0.45398
NM_001482.3(GATM):c.330A>T (p.Gln110His) rs1288775 0.45330
NM_002602.4(PDE6G):c.*45G>A rs8477 0.45150
NM_002225.5(IVD):c.*808C>G rs2075625 0.45103
NM_000137.4(FAH):c.82-13G>A rs1370275 0.45099
NM_002225.5(IVD):c.*2844T>C rs7207 0.45094
NM_002225.5(IVD):c.*1610C>T rs11630878 0.44933
NM_000440.3(PDE6A):c.*2194G>A rs30886 0.44908
NM_001031710.3(KLHL7):c.352C>T (p.Leu118=) rs15775 0.44258
NM_002108.4(HAL):c.*1241A>C rs1059844 0.44211
NM_000440.3(PDE6A):c.*2336C>T rs30885 0.44141
NM_014049.5(ACAD9):c.1279-7A>G rs1683787 0.43618
NM_001609.4(ACADSB):c.*262C>T rs12248515 0.43449
NM_183050.4(BCKDHB):c.197-11G>T rs9448894 0.42545
NM_002860.4(ALDH18A1):c.*155G>A rs1053905 0.42481
NM_001080.3(ALDH5A1):c.*253C>A rs1054899 0.42316
NM_003060.4(SLC22A5):c.285T>C (p.Leu95=) rs2631365 0.42203
NM_000329.3(RPE65):c.*915C>G rs3118416 0.42177
NM_000329.3(RPE65):c.*611G>A rs2182315 0.42147
NM_004183.4(BEST1):c.1608T>C (p.Thr536=) rs1800009 0.41922
NM_020686.6(ABAT):c.*915C>G rs3743801 0.41460
NM_201548.5(CERKL):c.156C>T (p.Phe52=) rs1473295 0.40745
NM_001352514.2(HLCS):c.*3141_*3142dup rs3031056 0.40694
NM_000326.5(RLBP1):c.*296G>A rs2710 0.39999
NM_016247.4(IMPG2):c.666+10G>A rs533852 0.39987
NM_005589.4(ALDH6A1):c.730+13A>C rs2072293 0.39899
NM_183050.4(BCKDHB):c.*731C>T rs4706117 0.39858
NM_020686.6(ABAT):c.*512G>A rs3743798 0.39781
NM_000071.3(CBS):c.*565C>T rs706209 0.39516
NM_000071.3(CBS):c.*544T>C rs706208 0.39461
NM_003060.4(SLC22A5):c.807A>G (p.Leu269=) rs274558 0.39440
NM_003060.4(SLC22A5):c.824+13T>C rs274557 0.39418
NM_006017.3(PROM1):c.303+6G>A rs2078622 0.39397
NM_014252.4(SLC25A15):c.*515A>G rs7322603 0.39342
NM_014252.4(SLC25A15):c.*353A>G rs9549293 0.39328
NM_014252.4(SLC25A15):c.*579C>T rs7321976 0.39308
NM_001297.5(CNGB1):c.*919G>A rs1477405 0.39247
NM_018418.5(SPATA7):c.220G>A (p.Val74Met) rs3179969 0.39047
NM_002860.4(ALDH18A1):c.2206+15G>A rs10882640 0.39029
NM_003748.4(ALDH4A1):c.*118G>A rs11740 0.38688
NM_003748.4(ALDH4A1):c.*702C>T rs3202002 0.38569
NM_004170.6(SLC1A1):c.1110T>C (p.Thr370=) rs301430 0.38224
NM_000539.3(RHO):c.-26A>G rs7984 0.38071
NM_001297.5(CNGB1):c.3462+7T>C rs11076207 0.37846
NM_000440.3(PDE6A):c.*2542G>A rs30884 0.37685
NM_014748.4(SNX17):c.*653G>A rs13472 0.37643
NM_020686.6(ABAT):c.*476T>C rs1731071 0.37627
NM_000539.3(RHO):c.*912A>G rs2855558 0.37600
NM_020686.6(ABAT):c.*574A>G rs1641032 0.37580
NM_020686.6(ABAT):c.*571A>C rs1641031 0.37567
NM_001201543.2(FAM161A):c.*300T>C rs6748320 0.37525
NM_001201543.2(FAM161A):c.*1210T>C rs3736598 0.37515
NM_001002755.4(NFU1):c.74T>A (p.Met25Lys) rs4453725 0.37294
NM_000255.3(MMUT):c.-198A>T rs3729619 0.37031
NM_001609.4(ACADSB):c.*4467A>T rs6838 0.36866
NM_033100.4(CDHR1):c.*3768G>C rs2279229 0.36843
NM_003322.6(TULP1):c.776T>C (p.Ile259Thr) rs2064317 0.36637
NM_001297.5(CNGB1):c.327C>T (p.Gly109=) rs17821448 0.36508
NM_012463.4(ATP6V0A2):c.-14C>T rs1139320 0.36505
NM_001875.5(CPS1):c.*438T>G rs7684 0.36145
NM_022367.4(SEMA4A):c.*538T>C rs7695 0.36079
NM_000554.6(CRX):c.*966G>C rs3933489 0.35856
NM_004172.5(SLC1A3):c.*515A>C rs1049522 0.35699
NM_000554.6(CRX):c.*2106C>T rs12982537 0.35558
NM_001080.3(ALDH5A1):c.538C>T (p.His180Tyr) rs2760118 0.35507
NM_001142800.2(EYS):c.6977G>A (p.Arg2326Gln) rs4710457 0.35152
NM_014251.3(SLC25A13):c.1194A>G (p.Leu398=) rs2301629 0.34968
NM_004170.6(SLC1A1):c.414G>A (p.Thr138=) rs2228622 0.34921
NM_014252.4(SLC25A15):c.760A>T (p.Ile254Leu) rs17849654 0.34875
NM_014270.5(SLC7A9):c.425T>C (p.Val142Ala) rs12150889 0.34607
NM_006017.3(PROM1):c.2374-6T>C rs6449209 0.34571
NM_001081.4(CUBN):c.2487G>A (p.Ser829=) rs1801225 0.34517
NM_004937.3(CTNS):c.*2569C>T rs7093 0.33888
NM_201253.3(CRB1):c.71-12A>T rs12042179 0.33853
NM_001029883.3(PCARE):c.*506T>C rs10194257 0.33732
NM_000274.4(OAT):c.1134C>T (p.Asn378=) rs11461 0.33660
NM_001081.4(CUBN):c.*601A>G rs780635 0.33593
NM_052845.4(MMAB):c.*2701G>C rs2241201 0.33323
NM_000411.7(HLCS):c.-480-12A>G rs115866403 0.33322
NM_000512.5(GALNS):c.*367T>C rs1141390 0.33207
NM_020686.6(ABAT):c.1381+9T>C rs1079348 0.33159
NM_001875.5(CPS1):c.4217C>A (p.Thr1406Asn) rs1047891 0.33052
NM_006269.2(RP1):c.2953A>T (p.Asn985Tyr) rs2293869 0.33006
NM_000554.6(CRX):c.*400A>T rs3848536 0.32741
NM_018368.4(LMBRD1):c.1407T>A (p.Asp469Glu) rs12648 0.32715
NM_020686.6(ABAT):c.984C>A (p.Val328=) rs1641022 0.32625
NM_000277.3(PAH):c.*187G>A rs1801153 0.32335
NM_014270.5(SLC7A9):c.507C>T (p.Ser169=) rs11084673 0.32264
NM_000554.6(CRX):c.*1346G>A rs12462534 0.32243
NM_000554.6(CRX):c.*579T>C rs4356586 0.32205
NM_020686.6(ABAT):c.*258G>C rs737695 0.31975
NM_014270.5(SLC7A9):c.687C>T (p.Leu229=) rs1007161 0.31957
NM_014270.5(SLC7A9):c.667C>A (p.Leu223Met) rs1007160 0.31956
NM_001029883.3(PCARE):c.*1065A>G rs17007529 0.31909
NM_001029883.3(PCARE):c.*1226A>G rs59633688 0.31897
NM_000554.6(CRX):c.*401A>C rs3848537 0.31847
NM_000554.6(CRX):c.*682C>T rs3859431 0.31819
NM_001171993.2(HPD):c.-115+47G>A rs3741591 0.31802
NM_201548.5(CERKL):c.*1159C>T rs1047307 0.31602
NM_000360.4(TH):c.241G>A (p.Val81Met) rs6356 0.31555
NM_000108.5(DLD):c.*18A>T rs8721 0.31455
NM_052845.4(MMAB):c.57C>A (p.Arg19=) rs10774774 0.31358
NM_052845.4(MMAB):c.56G>A (p.Arg19His) rs10774775 0.31347
NM_000554.6(CRX):c.*2559G>C rs12463238 0.31236
NM_000554.6(CRX):c.*2704C>T rs12974951 0.31186
NM_000108.5(DLD):c.*1688G>A rs8440 0.31157
NM_006445.4(PRPF8):c.891T>C (p.Asn297=) rs7503397 0.31150
NM_001482.2(GATM):c.-200C>T rs7164139 0.31090
NM_006445.4(PRPF8):c.3774+6G>A rs11078563 0.31089
NM_001918.5(DBT):c.1210-9A>T rs34229137 0.31080
NM_001482.3(GATM):c.*600A>G rs1049503 0.31074
NM_006445.4(PRPF8):c.1914C>G (p.Leu638=) rs11078565 0.31074
NM_018418.5(SPATA7):c.4G>A (p.Asp2Asn) rs4904448 0.30943
NM_000071.3(CBS):c.1080C>T (p.Ala360=) rs1801181 0.30942
NM_000541.5(SAG):c.1207G>A (p.Val403Ile) rs1046974 0.30851
NM_001029883.3(PCARE):c.*508A>G rs10196859 0.30812
NM_022132.5(MCCC2):c.904-12A>G rs277984 0.30658
NM_001297.5(CNGB1):c.1958-14A>C rs3991715 0.30656
NM_000016.6(ACADM):c.216+10T>C rs2275378 0.30596
NM_001297.5(CNGB1):c.2193C>T (p.Asn731=) rs376270 0.30588
NM_004172.5(SLC1A3):c.*1022G>A rs1049524 0.30550
NM_000554.6(CRX):c.*2717G>T rs11666203 0.30498
NM_000554.6(CRX):c.*3017C>T rs11666244 0.30306
NM_001918.5(DBT):c.*5317T>C rs11166413 0.30273
NM_000554.6(CRX):c.*3301T>C rs11670620 0.30261
NM_000554.6(CRX):c.*3279C>T rs11666316 0.30253
NM_001029883.3(PCARE):c.2112T>C (p.Asn704=) rs10200693 0.30236
NM_205861.3(DHDDS):c.*1886C>T rs2290588 0.30150
NM_205861.3(DHDDS):c.757G>A (p.Val253Met) rs3816539 0.30121
NM_000255.4(MMUT):c.1595G>A (p.Arg532His) rs1141321 0.30110
NM_024887.3(DHDDS):c.-150G>A rs6656196 0.30080
NM_001609.4(ACADSB):c.38G>A (p.Arg13Lys) rs12263012 0.30009
NM_001029883.3(PCARE):c.1452C>T (p.Ser484=) rs13385188 0.29962
NM_006445.4(PRPF8):c.2847G>A (p.Pro949=) rs33965342 0.29624
NM_000255.4(MMUT):c.*1326G>A rs9381784 0.29445
NM_000017.4(ACADS):c.*527A>G rs9204 0.29435
NM_001080.3(ALDH5A1):c.*1840G>A rs2744602 0.29135
NM_001029883.3(PCARE):c.*830C>A rs13016696 0.29075
NM_000481.4(AMT):c.*696C>T rs10640 0.29031
NM_000019.3(ACAT1):c.*599A>C rs2280332 0.28837
NM_000071.3(CBS):c.699C>T (p.Tyr233=) rs234706 0.28613
NM_000481.4(AMT):c.954G>A (p.Arg318=) rs11715915 0.28593
NM_004170.6(SLC1A1):c.*1250G>C rs3087879 0.28531
NM_000320.3(QDPR):c.396G>A (p.Leu132=) rs2597775 0.28406
NM_022132.5(MCCC2):c.*1198C>T rs277975 0.28389
NM_000320.3(QDPR):c.*622T>C rs10604 0.28366
NM_001029883.3(PCARE):c.*27G>A rs10182566 0.28227
NM_206933.4(USH2A):c.1419C>T (p.Thr473=) rs1805050 0.28143
NM_014336.5(AIPL1):c.*1229C>T rs907938 0.28038
NM_002860.4(ALDH18A1):c.*699C>T rs4037 0.28027
NM_002860.4(ALDH18A1):c.*412T>C rs8758 0.27959
NM_000019.4(ACAT1):c.13G>C (p.Ala5Pro) rs3741056 0.27945
NM_001875.5(CPS1):c.*346T>C rs715 0.27930
NM_000322.5(PRPH2):c.*13C>T rs361524 0.27666
NM_000360.4(TH):c.977+8C>G rs12419447 0.27597
NM_014014.5(SNRNP200):c.5317C>T (p.Leu1773=) rs772175 0.27589
NM_006445.4(PRPF8):c.637T>C (p.Leu213=) rs11559305 0.27527
NM_001077620.3(PRCD):c.*1405C>T rs4648339 0.27446
NM_001142800.2(EYS):c.5705A>T (p.Asn1902Ile) rs9353806 0.27343
NM_001902.6(CTH):c.*523A>T rs583316 0.27281
NM_032601.4(MCEE):c.227C>T (p.Ala76Val) rs11541017 0.26738
NM_000531.6(OTC):c.137A>G (p.Lys46Arg) rs1800321 0.26575
NM_020686.6(ABAT):c.*1405C>T rs7201586 0.26539
NM_000411.8(HLCS):c.-405T>C rs117476389 0.26368
NM_000512.5(GALNS):c.*611A>G rs1135364 0.26293
NM_000327.4(ROM1):c.669G>C (p.Arg223=) rs1801144 0.26271
NM_000883.4(IMPDH1):c.1575G>A (p.Ala525=) rs2228075 0.26135
NM_000019.4(ACAT1):c.-9T>A rs3741055 0.26111
NM_000411.7(HLCS):c.-466A>G rs117138955 0.25759
NM_000411.7(HLCS):c.-471A>G rs118091633 0.25745
NM_003748.4(ALDH4A1):c.*712C>T rs14311 0.25638
NM_004172.5(SLC1A3):c.*33G>A rs2229894 0.25443
NM_000411.8(HLCS):c.-433C>T rs115711809 0.25319
NM_001077620.3(PRCD):c.*760C>T rs2278639 0.25158
NM_001080.3(ALDH5A1):c.726+8G>A rs2817220 0.25132
NM_006269.2(RP1):c.5071T>C (p.Ser1691Pro) rs414352 0.25064
NM_003748.4(ALDH4A1):c.*1198A>G rs7366541 0.24677
NM_003748.4(ALDH4A1):c.*1275A>C rs1138333 0.24672
NM_006269.2(RP1):c.2615G>A (p.Arg872His) rs444772 0.24558
NM_052845.4(MMAB):c.*3148G>A rs11067227 0.24433
NM_052845.4(MMAB):c.*625G>C rs11067233 0.24420
NM_052845.4(MMAB):c.*891C>A rs877709 0.24416
NM_001875.5(CPS1):c.*692C>G rs12476133 0.24256
NM_003748.4(ALDH4A1):c.*921G>A rs1138269 0.24248
NM_003748.4(ALDH4A1):c.*925C>T rs1140477 0.24236
NM_014049.5(ACAD9):c.1476C>T (p.Pro492=) rs876755 0.24221
NM_000322.5(PRPH2):c.*145G>A rs835 0.24219
NM_004937.3(CTNS):c.*737T>A rs222754 0.24184
NM_003748.4(ALDH4A1):c.*1239G>C rs1138328 0.24081
NM_000360.4(TH):c.720G>A (p.Lys240=) rs6357 0.23916
NM_000512.5(GALNS):c.*36G>A rs11076715 0.23846
NM_000016.6(ACADM):c.1161A>G (p.Val387=) rs1061337 0.23824
NM_001297.5(CNGB1):c.*836C>T rs165999 0.23733
NM_001902.6(CTH):c.1208G>T (p.Ser403Ile) rs1021737 0.23572
NM_005589.4(ALDH6A1):c.*1934T>C rs10200 0.23558
NM_005589.4(ALDH6A1):c.*1157G>C rs4646866 0.23461
NM_005589.4(ALDH6A1):c.*1148C>T rs4646865 0.23441
NM_002225.5(IVD):c.*261G>A rs2075624 0.23369
NM_004577.4(PSPH):c.159C>T (p.Gly53=) rs74874687 0.23305
NM_004577.4(PSPH):c.145C>T (p.Arg49Trp) rs79451216 0.23299
NM_001374377.1(FAH):c.-30+45G>C rs112474268 0.23230
NM_000512.5(GALNS):c.*652A>G rs1135366 0.23189
NM_201548.5(CERKL):c.239-12T>A rs6433923 0.22971
NM_014270.5(SLC7A9):c.1143C>T (p.Ala381=) rs2287881 0.22930
NM_001609.4(ACADSB):c.*545G>A rs1140593 0.22894
NM_006343.3(MERTK):c.1494C>T (p.Asn498=) rs3811634 0.22888
NM_172250.3(MMAA):c.*2866A>G rs17020500 0.22820
NM_000322.5(PRPH2):c.*898C>A rs3176988 0.22759
NM_000322.5(PRPH2):c.*1001C>A rs45550933 0.22757
NM_001609.4(ACADSB):c.639C>T (p.His213=) rs1140591 0.22709
NM_000170.3(GLDC):c.501G>A (p.Glu167=) rs35374927 0.22564
NM_014270.5(SLC7A9):c.399C>T (p.Ser133=) rs35170371 0.22541
NM_205861.3(DHDDS):c.*1300G>C rs12096239 0.22507
NM_001077620.3(PRCD):c.*1439T>C rs5742903 0.22457
NM_014014.5(SNRNP200):c.3550T>C (p.Leu1184=) rs3171927 0.22368
NM_004170.6(SLC1A1):c.232+14A>T rs45518336 0.22319
NM_004183.4(BEST1):c.1410G>A (p.Thr470=) rs149698 0.22214
NM_001902.6(CTH):c.*592C>T rs6677781 0.22168
NM_000161.3(GCH1):c.*243C>T rs841 0.22091
NM_006343.3(MERTK):c.583+10C>T rs11683694 0.22086
NM_000071.3(CBS):c.*123C>G rs1051319 0.21968
NM_000440.3(PDE6A):c.331A>C (p.Arg111=) rs2277925 0.21963
NM_000170.3(GLDC):c.249G>A (p.Gly83=) rs12341698 0.21682
NM_006017.3(PROM1):c.*667A>C rs2240688 0.21643
NM_000512.5(GALNS):c.*701C>G rs77936719 0.21621
NM_001012720.2(RGR):c.*65A>G rs3526 0.21588
NM_000017.4(ACADS):c.*21G>C rs3916 0.21460
NM_006269.2(RP1):c.5008G>A (p.Ala1670Thr) rs446227 0.21425
NM_004937.3(CTNS):c.*405G>A rs760273 0.21386
NM_025136.4(OPA3):c.*3874G>A rs62109650 0.21272
NM_006445.4(PRPF8):c.6588T>C (p.His2196=) rs1802491 0.21248
NM_001081.4(CUBN):c.939C>T (p.Asn313=) rs1801223 0.21191
NM_002108.4(HAL):c.*110C>A rs2230885 0.21171
NM_000327.3(ROM1):c.-329G>T rs3923805 0.21125
NM_004453.4(ETFDH):c.*135A>C rs17843966 0.21115
NM_205861.3(DHDDS):c.*2032C>T rs1055323 0.21078
NM_001142800.2(EYS):c.-500A>G rs1490127 0.20918
NM_006269.2(RP1):c.5175A>G (p.Gln1725=) rs441800 0.20759
NM_000017.4(ACADS):c.625G>A (p.Gly209Ser) rs1799958 0.20617
NM_144596.4(TTC8):c.*238G>A rs1048190 0.20574
NM_006343.3(MERTK):c.353G>A (p.Ser118Asn) rs13027171 0.20460
NM_006017.3(PROM1):c.2281-6C>G rs3815344 0.20394
NM_206933.4(USH2A):c.3812-8T>G rs646094 0.20360
NM_206933.4(USH2A):c.4627+1038T>C rs439940 0.20332
NM_206933.4(USH2A):c.4627+1142G>T rs401269 0.20255
NM_001142800.2(EYS):c.2024-14C>T rs45628235 0.20204
NM_014252.4(SLC25A15):c.*1855C>A rs9566580 0.20154
NM_001609.4(ACADSB):c.*2331C>G rs7079265 0.20119
NM_001609.4(ACADSB):c.*2175A>C rs7909871 0.20108
NM_001029883.3(PCARE):c.*2279G>A rs1562393 0.19995
NM_001609.4(ACADSB):c.*4426T>C rs7732 0.19948
NM_000277.3(PAH):c.735G>A (p.Val245=) rs1042503 0.19782
NM_014336.5(AIPL1):c.268G>C (p.Asp90His) rs12449580 0.19586
NM_001609.4(ACADSB):c.*2490T>C rs7914164 0.19560
NM_004937.3(CTNS):c.*555T>C rs1048646 0.19518
NM_004937.3(CTNS):c.*572A>G rs3826493 0.19518
NM_004937.3(CTNS):c.*627T>C rs1048647 0.19492
NM_004937.3(CTNS):c.*631T>C rs1048648 0.19488
NM_001142800.2(EYS):c.3444-5C>T rs9445051 0.19475
NM_004937.3(CTNS):c.*300C>G rs2873624 0.19455
NM_004937.3(CTNS):c.*715C>T rs1048649 0.19427
NM_004937.3(CTNS):c.*421T>C rs760274 0.19404
NM_004937.3(CTNS):c.*410A>G rs3826496 0.19387
NM_005802.5(TOPORS):c.2991T>C (p.Asp997=) rs12348918 0.19195
NM_001077620.3(PRCD):c.*1185A>C rs895157 0.19185
NM_001081.4(CUBN):c.5343-8C>A rs2271463 0.19092
NM_014336.5(AIPL1):c.*1009A>G rs4577135 0.19087
NM_004937.3(CTNS):c.*1025A>G rs1048674 0.19022
NM_004937.3(CTNS):c.*1024C>T rs1048673 0.19015
NM_002098.6(GUCA1B):c.*1318G>A rs1997980 0.19007
NM_004937.3(CTNS):c.*1116C>T rs1048682 0.18891
NM_000440.3(PDE6A):c.465C>T (p.Asn155=) rs2277926 0.18879
NM_003748.4(ALDH4A1):c.*444T>C rs9117 0.18721
NM_004937.3(CTNS):c.*1152A>G rs2235104 0.18705
NM_003982.4(SLC7A7):c.660T>C (p.Gly220=) rs1805061 0.18661
NM_000050.4(ASS1):c.-323G>T rs2071367 0.18565
NM_014270.5(SLC7A9):c.*79T>C rs2287884 0.18414
NM_000329.3(RPE65):c.*531A>G rs3118418 0.18178
NM_000554.6(CRX):c.*1122G>C rs73576710 0.17992
NM_000554.6(CRX):c.*769G>A rs55835533 0.17955
NM_004172.5(SLC1A3):c.*1485C>T rs2269272 0.17926
NM_004170.6(SLC1A1):c.*1588A>G rs3056 0.17860
NM_006445.4(PRPF8):c.3775-14T>C rs3814969 0.17793
NM_005589.4(ALDH6A1):c.*155T>C rs8204 0.17644
NM_015629.4(PRPF31):c.-9+14= rs4806711 0.17522
NM_001081.4(CUBN):c.6124+8C>T rs2271461 0.17332
NM_032601.4(MCEE):c.311G>T (p.Arg104Leu) rs6748672 0.17242
NM_033100.4(CDHR1):c.*3020G>A rs11594855 0.17242
NM_000182.5(HADHA):c.*302G>A rs1049987 0.17222
NM_052845.4(MMAB):c.*1535G>A rs34921355 0.17160
NM_001201543.2(FAM161A):c.706A>G (p.Ile236Val) rs17513722 0.17102
NM_052845.4(MMAB):c.*2835T>C rs12817689 0.17090
NM_000182.5(HADHA):c.474C>T (p.Tyr158=) rs11552518 0.16973
NM_052845.4(MMAB):c.*2684G>C rs35145546 0.16925
NM_001029883.3(PCARE):c.*1371G>A rs57505815 0.16892
NM_005802.5(TOPORS):c.2319T>C (p.Ser773=) rs10971019 0.16858
NM_000019.4(ACAT1):c.471C>A (p.Ser157=) rs35188041 0.16806
NM_001201543.2(FAM161A):c.*311A>C rs62148138 0.16764
NM_000353.3(TAT):c.43C>T (p.Pro15Ser) rs74344827 0.16727
NM_000207.3(INS):c.*9C>T rs3842752 0.16663
NM_001081.4(CUBN):c.9030T>C (p.Ala3010=) rs1801241 0.16648
NM_001142800.2(EYS):c.1922A>T (p.Glu641Val) rs17411795 0.16501
NM_153006.3(NAGS):c.1086T>C (p.Phe362=) rs55708447 0.16339
NM_001029883.3(PCARE):c.*543C>T rs10495767 0.16301
NM_203288.2(RP9):c.629A>G (p.Lys210Arg) rs150987618 0.16255
NM_001201543.2(FAM161A):c.321A>G (p.Ile107Met) rs11125895 0.16195
NM_001029883.3(PCARE):c.1739C>T (p.Thr580Met) rs10166913 0.16186
NM_000329.3(RPE65):c.1056G>A (p.Glu352=) rs12145904 0.15903
NM_001029883.3(PCARE):c.2374C>G (p.Leu792Val) rs17744093 0.15871
NM_001126106.4(SLC7A7):c.-263G>C rs17122772 0.15819
NM_004183.4(BEST1):c.1557C>T (p.Ser519=) rs1800008 0.15775
NM_005589.4(ALDH6A1):c.112-11G>T rs2302126 0.15764
NM_001126106.4(SLC7A7):c.-281T>C rs17122776 0.15729
NM_001029883.3(PCARE):c.60G>A (p.Gln20=) rs35929540 0.15707
NM_201548.5(CERKL):c.*954C>A rs11553356 0.15631
NM_201548.5(CERKL):c.*420G>A rs12614187 0.15619
NM_001029883.3(PCARE):c.2499G>A (p.Pro833=) rs34253433 0.15556
NM_201548.5(CERKL):c.242A>C (p.Asp81Ala) rs61750041 0.15130
NM_001029883.3(PCARE):c.258G>A (p.Arg86=) rs62132765 0.15123
NM_000531.6(OTC):c.299-8T>A rs73196229 0.15031
NM_177965.4(CFAP418):c.*1458A>C rs10109660 0.14928
NM_001379270.1(CNGA1):c.340G>A (p.Asp114Asn) rs28642966 0.14829
NM_014270.5(SLC7A9):c.-39C>T rs11084677 0.14818
NM_004937.3(CTNS):c.504G>A (p.Thr168=) rs1800528 0.14800
NM_004170.6(SLC1A1):c.1193+11G>A rs1471786 0.14771
NM_012469.4(PRPF6):c.2431+15C>T rs41278240 0.14735
NM_000277.3(PAH):c.-71A>C rs2280615 0.14554
NM_000016.6(ACADM):c.*672T>C rs8763 0.14503
NM_000126.4(ETFA):c.39+12C>G rs62027051 0.14273
NM_002108.4(HAL):c.777A>G (p.Pro259=) rs36014288 0.14272
NM_000282.4(PCCA):c.627A>G (p.Ala209=) rs538229 0.14245
NM_000554.6(CRX):c.100+12C>T rs62128766 0.14108
NM_020686.6(ABAT):c.*2304T>A rs9456 0.14101
NM_020686.6(ABAT):c.*1558G>A rs45515994 0.14096
NM_020686.6(ABAT):c.*2545C>T rs8275 0.14070
NM_001297.5(CNGB1):c.2233C>A (p.Leu745Ile) rs10459809 0.14066
NM_020686.6(ABAT):c.*1575A>G rs45615432 0.14064
NM_001031710.3(KLHL7):c.*779A>G rs706013 0.14045
NM_201548.5(CERKL):c.895+3A>G rs12623687 0.13988
NM_000883.4(IMPDH1):c.987G>C (p.Leu329=) rs2288550 0.13918
NM_025136.4(OPA3):c.*5523G>A rs57585727 0.13908
NM_005327.7(HADH):c.-38T>C rs17550794 0.13904
NM_001379270.1(CNGA1):c.-129C>T rs224801 0.13824
NM_020686.6(ABAT):c.*244C>A rs2270289 0.13709
NM_025136.4(OPA3):c.*638T>A rs150575877 0.13416
NM_004937.2(CTNS):c.-313G>A rs17707869 0.13396
NM_001029883.3(PCARE):c.*2481G>A rs17692899 0.13366
NM_001081.4(CUBN):c.5803A>G (p.Ser1935Gly) rs41289305 0.13356
NM_001297.5(CNGB1):c.*1233T>C rs9932826 0.13345
NM_004937.3(CTNS):c.*2546G>C rs1128109 0.13235
NM_004937.3(CTNS):c.*2550G>A rs1128098 0.13232
NM_001081.4(CUBN):c.9005A>G (p.Glu3002Gly) rs1801240 0.13166
NM_000541.5(SAG):c.489C>T (p.Ala163=) rs2304773 0.13074
NM_004744.5(LRAT):c.*2670G>T rs17032000 0.13064
NM_001142800.2(EYS):c.1712A>G (p.Gln571Arg) rs61753610 0.12981
NM_001918.5(DBT):c.*6903T>A rs10783125 0.12973
NM_016247.4(IMPG2):c.*1589A>G rs6798685 0.12923
NM_005148.4(UNC119):c.*1C>T rs2070139 0.12907
NM_000539.3(RHO):c.*232A>G rs2410 0.12892
NM_016247.4(IMPG2):c.*881T>C rs75852013 0.12848
NM_001081.4(CUBN):c.6459G>C (p.Leu2153Phe) rs62619939 0.12797
NM_000541.5(SAG):c.1208T>C (p.Val403Ala) rs1046976 0.12771
NM_002150.3(HPD):c.94-6A>T rs2707072 0.12768
NM_016247.4(IMPG2):c.*1737T>C rs6796058 0.12729
NM_012213.3(MLYCD):c.*412T>C rs1127382 0.12522
NM_001081.4(CUBN):c.*134G>A rs780636 0.12332
NM_000137.3(FAH):c.*310T>A rs75212096 0.12315
NM_000137.4(FAH):c.*94T>C rs1049194 0.12301
NM_000554.6(CRX):c.*2171C>T rs77875912 0.12286
NM_058179.4(PSAT1):c.*422C>T rs10867185 0.12240
NM_012469.4(PRPF6):c.*19C>T rs7550 0.12217
NM_000554.6(CRX):c.*2380C>T rs62128810 0.12202
NM_001297.5(CNGB1):c.1644T>C (p.Asp548=) rs2161703 0.12201
NM_000554.6(CRX):c.*1046C>T rs62128808 0.12194
NM_000554.6(CRX):c.*1289G>A rs62128809 0.12192
NM_000554.6(CRX):c.*3285C>G rs62128811 0.12171
NM_054012.4(ASS1):c.501C>T (p.His167=) rs10901072 0.12154
NM_000554.6(CRX):c.*679G>A rs112202398 0.12071
NM_001918.5(DBT):c.*9082C>T rs72728160 0.12046
NM_014252.4(SLC25A15):c.333C>T (p.Ala111=) rs9577152 0.11997
NM_001352514.2(HLCS):c.1275C>T (p.Ser425=) rs1065758 0.11920
NM_001012720.2(RGR):c.*416A>G rs11817115 0.11877
NM_001698.3(AUH):c.483A>C (p.Ile161=) rs7874056 0.11827
NM_002225.5(IVD):c.723C>T (p.Asp241=) rs2229312 0.11757
NM_001297.5(CNGB1):c.*310T>C rs57309302 0.11688
NM_001482.3(GATM):c.-30T>G rs8024550 0.11642
NM_000687.4(AHCY):c.973-7C>T rs17091705 0.11442
NM_000687.4(AHCY):c.*679A>T rs4239 0.11416
NM_025136.4(OPA3):c.*5525C>T rs117230006 0.11413
NM_001297.5(CNGB1):c.*33A>G rs13338071 0.11360
NM_001297.5(CNGB1):c.*1292A>C rs9934916 0.11300
NM_014336.5(AIPL1):c.*1391C>T rs907939 0.11244
NM_025136.4(OPA3):c.*4672G>A rs11669246 0.11223
NM_025136.4(OPA3):c.*3212G>A rs79317386 0.11204
NM_000539.3(RHO):c.*925T>C rs60645924 0.11065
NM_005589.4(ALDH6A1):c.*2816T>C rs1536 0.11048
NM_003748.4(ALDH4A1):c.1408G>A (p.Val470Ile) rs2230709 0.11004
NM_000317.3(PTS):c.163+14T>C rs3819331 0.10984
NM_000108.5(DLD):c.*28G>T rs17154615 0.10964
NM_001142800.2(EYS):c.3906C>T (p.His1302=) rs12663916 0.10887
NM_000320.3(QDPR):c.*403A>G rs1049600 0.10881
NM_000320.3(QDPR):c.*408C>T rs1049601 0.10880
NM_002602.4(PDE6G):c.*399C>T rs13372 0.10854
NM_002602.4(PDE6G):c.*274C>T rs1126818 0.10851
NM_052845.4(MMAB):c.*1467C>T rs1061440 0.10807
NM_052845.4(MMAB):c.*192T>C rs8228 0.10802
NM_052845.4(MMAB):c.*1952T>C rs61940463 0.10789
NM_014270.5(SLC7A9):c.478+10T>C rs6510300 0.10753
NM_052845.4(MMAB):c.*1810G>A rs73414076 0.10702
NM_054012.4(ASS1):c.876T>C (p.His292=) rs1057484 0.10667
NM_001142800.2(EYS):c.5244A>C (p.Leu1748Phe) rs57312007 0.10595
NM_001609.4(ACADSB):c.*1200A>T rs11248371 0.10587
NM_001609.4(ACADSB):c.*2113G>A rs7922412 0.10506
NM_000161.3(GCH1):c.*732A>G rs45454691 0.10500
NM_000255.4(MMUT):c.1495G>A (p.Ala499Thr) rs2229385 0.10476
NM_000255.4(MMUT):c.*580A>G rs11757098 0.10433
NM_014336.5(AIPL1):c.*1202C>T rs907937 0.10352
NM_000274.4(OAT):c.*185C>T rs2459216 0.10300
NM_004183.4(BEST1):c.219C>A (p.Ile73=) rs1109748 0.10271
NM_002860.4(ALDH18A1):c.896C>T (p.Thr299Ile) rs2275272 0.10214
NM_012213.3(MLYCD):c.*460A>C rs1127387 0.10180
NM_001142800.2(EYS):c.3936A>G (p.Thr1312=) rs12662610 0.10143
NM_014270.5(SLC7A9):c.604+10G>A rs11084672 0.09952
NM_004744.5(LRAT):c.*817A>G rs78274322 0.09886
NM_004744.5(LRAT):c.*1867C>T rs78441257 0.09872
NM_001142800.2(EYS):c.4352T>C (p.Ile1451Thr) rs62415828 0.09865
NM_001142800.2(EYS):c.4026C>T (p.Ser1342=) rs12663619 0.09859
NM_001142800.2(EYS):c.4593G>A (p.Glu1531=) rs62415825 0.09856
NM_001142800.2(EYS):c.4081A>G (p.Ile1361Val) rs17403955 0.09853
NM_001142800.2(EYS):c.3787A>G (p.Ile1263Val) rs17404123 0.09852
NM_001142800.2(EYS):c.3973C>G (p.Gln1325Glu) rs12663622 0.09847
NM_001142800.2(EYS):c.4543C>T (p.Arg1515Trp) rs62415827 0.09842
NM_001142800.2(EYS):c.4549A>G (p.Ser1517Gly) rs62415826 0.09832
NM_000048.4(ASL):c.*265C>T rs465359 0.09815
NM_000048.4(ASL):c.*323G>A rs160643 0.09813
NM_000048.4(ASL):c.*287C>T rs160644 0.09796
NM_004744.5(LRAT):c.*1338T>G rs12507608 0.09793
NM_000048.4(ASL):c.*268G>C rs462853 0.09790
NM_012463.4(ATP6V0A2):c.*3553G>A rs73420351 0.09739
NM_006017.3(PROM1):c.786G>A (p.Ala262=) rs2286455 0.09727
NM_001875.5(CPS1):c.2193-15G>T rs2287600 0.09707
NM_002108.4(HAL):c.921T>C (p.Asn307=) rs11108364 0.09584
NM_001142800.2(EYS):c.5617C>G (p.Leu1873Val) rs16895517 0.09577
NM_020686.6(ABAT):c.309C>T (p.Val103=) rs2229157 0.09544
NM_003060.4(SLC22A5):c.*47C>T rs1045020 0.09512
NM_014270.5(SLC7A9):c.411T>C (p.Cys137=) rs12150890 0.09440
NM_022132.5(MCCC2):c.*593G>T rs60069076 0.09309
NM_004744.5(LRAT):c.342G>A (p.Glu114=) rs17031981 0.09214
NM_001394090.1(CFAP92):c.3281-2305C>T rs9830739 0.09177
NM_001081.4(CUBN):c.3522C>T (p.Gly1174=) rs1873469 0.09173
NM_000071.3(CBS):c.*299G>A rs12613 0.09051
NM_006017.3(PROM1):c.129C>T (p.Thr43=) rs10033086 0.09038
NM_052845.4(MMAB):c.*721T>G rs11831226 0.09002
NM_001370658.1(BTD):c.1353T>C (p.Cys451=) rs3817641 0.08986
NM_002225.5(IVD):c.*2912G>A rs11557072 0.08940
NM_025136.4(OPA3):c.*2485G>A rs8106584 0.08922
NM_001297.5(CNGB1):c.2732A>G (p.Lys911Arg) rs2303785 0.08900
NM_025136.4(OPA3):c.*3722G>A rs73568973 0.08874
NM_001142800.2(EYS):c.7666A>T (p.Ser2556Cys) rs66462731 0.08861
NM_014252.4(SLC25A15):c.*2328G>T rs9577154 0.08819
NM_014336.5(AIPL1):c.*1018G>A rs2871287 0.08814
NM_005271.5(GLUD1):c.942A>G (p.Leu314=) rs9421572 0.08685
NM_002098.6(GUCA1B):c.*457A>G rs9471797 0.08647
NM_001482.3(GATM):c.*913G>A rs17618637 0.08643
NM_014252.4(SLC25A15):c.117G>A (p.Thr39=) rs41396747 0.08535
NM_052845.4(MMAB):c.*378T>A rs66497319 0.08528
NM_001698.3(AUH):c.331-6G>A rs10991898 0.08502
NM_015629.4(PRPF31):c.735C>T (p.Pro245=) rs11556769 0.08499
NM_004170.6(SLC1A1):c.875+8A>C rs12682807 0.08497
NM_006343.3(MERTK):c.2608G>A (p.Val870Ile) rs2230517 0.08379
NM_001081.4(CUBN):c.7662A>G (p.Pro2554=) rs3740165 0.08317
NM_000539.3(RHO):c.-51G>A rs2269736 0.08270
NM_015629.4(PRPF31):c.1467C>T (p.Val489=) rs62144168 0.08164
NM_012469.4(PRPF6):c.71+6G>A rs45566234 0.08135
NM_001081.4(CUBN):c.2188C>T (p.His730Tyr) rs7905349 0.08051
NM_005327.7(HADH):c.*109T>A rs221347 0.07950
NM_014252.4(SLC25A15):c.*929G>C rs17061602 0.07878
NM_172250.3(MMAA):c.747G>A (p.Ser249=) rs11721553 0.07844
NM_001081.4(CUBN):c.8950A>G (p.Ile2984Val) rs1801239 0.07706
NM_014252.4(SLC25A15):c.*684C>T rs111782657 0.07643
NM_001875.5(CPS1):c.*380C>G rs10932349 0.07637
NM_000539.3(RHO):c.696+4C>T rs56340615 0.07633
NM_000161.3(GCH1):c.*1230C>T rs56130647 0.07553
NM_000137.4(FAH):c.267G>C (p.Leu89=) rs33929922 0.07529
NM_002108.4(HAL):c.423A>T (p.Thr141=) rs2302628 0.07463
NM_012213.3(MLYCD):c.642-5C>T rs2278037 0.07436
NM_012213.3(MLYCD):c.642-12A>T rs2278036 0.07434
NM_003060.4(SLC22A5):c.-107G>T rs13180186 0.07430
NM_003060.4(SLC22A5):c.-139G>T rs13180169 0.07424
NM_003060.4(SLC22A5):c.-77G>A rs13180295 0.07424
NM_003060.4(SLC22A5):c.-78C>T rs13180043 0.07424
NM_000156.6(GAMT):c.*146A>C rs659455 0.07418
NM_000353.3(TAT):c.309G>A (p.Ser103=) rs78302875 0.07372
NM_000207.3(INS):c.-18+4_-18+5insTTGC rs3842740 0.07357
NM_020686.6(ABAT):c.1270-4A>G rs12447235 0.07354
NM_172250.3(MMAA):c.*3621G>A rs55770806 0.07335
NM_014252.4(SLC25A15):c.*610G>T rs7320743 0.07290
NM_002098.6(GUCA1B):c.*220A>G rs3749920 0.07278
NM_001081.4(CUBN):c.5518G>A (p.Gly1840Ser) rs2271462 0.07196
NM_001081.4(CUBN):c.5134C>T (p.Leu1712=) rs2271468 0.07161
NM_001080.3(ALDH5A1):c.1402+7G>A rs12211574 0.07141
NM_000170.3(GLDC):c.660C>T (p.Leu220=) rs2228095 0.07130
NM_001080.3(ALDH5A1):c.*2115C>T rs34809203 0.07077
NM_201253.3(CRB1):c.*28T>C rs41302107 0.07060
NM_001080.3(ALDH5A1):c.*2766G>A rs13197086 0.07032
NM_000156.6(GAMT):c.626C>T (p.Thr209Met) rs17851582 0.07010
NM_001029883.3(PCARE):c.3668+14T>C rs72861052 0.06996
NM_177965.4(CFAP418):c.*1949C>G rs117011452 0.06868
NM_002900.3(RBP3):c.-13C>T rs41284964 0.06850
NM_000137.3(FAH):c.*284C>G rs79203348 0.06789
NM_001081.4(CUBN):c.10295C>G (p.Thr3432Ser) rs7898873 0.06787
NM_012213.3(MLYCD):c.529-8C>T rs3815806 0.06693
NM_183050.4(BCKDHB):c.*832C>T rs60566469 0.06661
NM_001352514.2(HLCS):c.*259T>C rs73398122 0.06633
NM_052845.4(MMAB):c.*656C>A rs11067232 0.06631
NM_002108.4(HAL):c.*1499A>G rs3812807 0.06609
NM_001012720.2(RGR):c.19C>T (p.Leu7=) rs11200938 0.06594
NM_000320.3(QDPR):c.345G>A (p.Ser115=) rs3733570 0.06567
NM_003748.4(ALDH4A1):c.1417A>G (p.Thr473Ala) rs6695033 0.06532
NM_000170.3(GLDC):c.438G>A (p.Thr146=) rs13289273 0.06458
NM_000126.4(ETFA):c.512C>T (p.Thr171Ile) rs1801591 0.06414
NM_000274.4(OAT):c.*535T>C rs8182 0.06407
NM_014252.4(SLC25A15):c.*1641G>T rs149457069 0.06406
NM_001080.3(ALDH5A1):c.*1268C>A rs12190214 0.06392
NM_001297.5(CNGB1):c.1950G>C (p.Pro650=) rs35424571 0.06391
NM_172250.3(MMAA):c.-56A>G rs4835011 0.06388
NM_003748.4(ALDH4A1):c.1548C>T (p.Gly516=) rs61749348 0.06385
NM_012469.4(PRPF6):c.1647+10C>A rs816919 0.06362
NM_012469.4(PRPF6):c.1209G>A (p.Ser403=) rs2427588 0.06355
NM_001609.4(ACADSB):c.946A>G (p.Ile316Val) rs1131430 0.06319
NM_000541.5(SAG):c.226A>G (p.Ile76Val) rs7565275 0.06304
NM_004937.3(CTNS):c.*527G>A rs79668190 0.06278
NM_006017.3(PROM1):c.15C>T (p.Leu5=) rs10033189 0.06194
NM_025136.3(OPA3):c.-75G>A rs45598532 0.06189
NM_001081.4(CUBN):c.618C>T (p.Tyr206=) rs41289313 0.06126
NM_052845.4(MMAB):c.*1729A>C rs559163901 0.06120
NM_002900.3(RBP3):c.2095T>C (p.Leu699=) rs17095789 0.06119
NM_000108.5(DLD):c.684+7G>A rs75123588 0.06110
NM_025136.4(OPA3):c.*577T>C rs112654759 0.06094
NM_025136.4(OPA3):c.*3878A>G rs79660166 0.06091
NM_004170.6(SLC1A1):c.441-11G>A rs73383440 0.06048
NM_000137.4(FAH):c.1056C>T (p.Ser352=) rs1801374 0.06041
NM_006343.3(MERTK):c.2916G>A (p.Ser972=) rs10205793 0.06012
NM_004937.2(CTNS):c.-520T>C rs111977802 0.06010
NM_001297.5(CNGB1):c.1604T>C (p.Val535Ala) rs12927214 0.05991
NM_004937.2(CTNS):c.-458C>T rs11657606 0.05976
NM_005589.4(ALDH6A1):c.*494A>T rs77324906 0.05972
NM_001081.4(CUBN):c.1245T>C (p.Gly415=) rs12571671 0.05965
NM_020686.6(ABAT):c.*1210T>C rs17674530 0.05905
NM_005589.4(ALDH6A1):c.*642C>T rs4646864 0.05891
NM_000531.6(OTC):c.718-14T>C rs55722856 0.05854
NM_001081.4(CUBN):c.5304C>T (p.Ile1768=) rs61841454 0.05795
NM_001379270.1(CNGA1):c.1620C>T (p.Phe540=) rs17573673 0.05795
NM_001387564.1(SMIM27):c.30C>G (p.Asp10Glu) rs15014 0.05757
NM_002098.6(GUCA1B):c.*503G>A rs13211352 0.05737
NM_052845.4(MMAB):c.*376T>A rs527861371 0.05729
NM_022367.4(SEMA4A):c.*37T>C rs41265023 0.05725
NM_000440.3(PDE6A):c.2337T>C (p.Phe779=) rs17110644 0.05660
NM_001029883.3(PCARE):c.37A>T (p.Ser13Cys) rs10084168 0.05626
NM_025136.4(OPA3):c.*272G>A rs7246349 0.05540
NM_000554.6(CRX):c.*3238G>A rs4081725 0.05457
NM_052845.4(MMAB):c.*1005A>G rs67432283 0.05428
NM_025136.4(OPA3):c.*3531G>T rs112899014 0.05413
NM_004577.4(PSPH):c.*406G>A rs145544909 0.05387
NM_004577.4(PSPH):c.*490C>T rs71543776 0.05383
NM_004577.4(PSPH):c.*11C>T rs35136814 0.05380
NM_012463.4(ATP6V0A2):c.*3603G>A rs73420352 0.05364
NM_000161.3(GCH1):c.-40C>T rs28458175 0.05363
NM_012463.4(ATP6V0A2):c.*574C>T rs112521789 0.05337
NM_000161.3(GCH1):c.*1183C>T rs76009965 0.05289
NM_004937.3(CTNS):c.462T>C (p.Ser154=) rs77453839 0.05257
NM_014336.5(AIPL1):c.*1658T>C rs78526307 0.05230
NM_000016.6(ACADM):c.-34T>C rs59932454 0.05213
NM_000016.6(ACADM):c.351A>C (p.Thr117=) rs74090726 0.05204
NM_052845.4(MMAB):c.*1657G>A rs111869218 0.05172
NM_025136.4(OPA3):c.*3038G>A rs73568982 0.05112
NM_000016.6(ACADM):c.*773G>A rs61612438 0.05111
NM_206933.4(USH2A):c.4627+145T>G rs55761862 0.05087
NM_001029883.3(PCARE):c.1262A>G (p.Lys421Arg) rs17007544 0.05074
NM_001081.4(CUBN):c.7913-11A>G rs7088988 0.05036
NM_004172.5(SLC1A3):c.*230C>T rs61420944 0.04981
NM_000161.3(GCH1):c.-131C>T rs115939621 0.04950
NM_014384.3(ACAD8):c.*190C>T rs111296476 0.04945
NM_014384.3(ACAD8):c.*377C>T rs74738493 0.04945
NM_014384.3(ACAD8):c.*202A>C rs79738869 0.04943
NM_014384.3(ACAD8):c.841+7T>C rs77368661 0.04943
NM_054012.4(ASS1):c.597+8C>T rs77343702 0.04911
NM_172250.3(MMAA):c.1089G>C (p.Gln363His) rs2270655 0.04892
NM_001080.3(ALDH5A1):c.610-5C>T rs76752785 0.04857
NM_001029883.3(PCARE):c.*3057C>T rs75634215 0.04854
NM_014384.3(ACAD8):c.1195+12C>T rs75333832 0.04799
NM_014384.3(ACAD8):c.*195G>C rs113572770 0.04796
NM_001080.3(ALDH5A1):c.*2059C>T rs13196003 0.04759
NM_000017.4(ACADS):c.*249G>A rs628909 0.04756
NM_001080.3(ALDH5A1):c.*385G>C rs13218365 0.04756
NM_004937.3(CTNS):c.*1665A>G rs112317698 0.04756
NM_001918.5(DBT):c.1210-10T>A rs183058253 0.04736
NM_020686.6(ABAT):c.*1333A>G rs17566580 0.04725
NM_014384.3(ACAD8):c.*277C>T rs75645586 0.04668
NM_001352514.2(HLCS):c.*521C>T rs9967991 0.04663
NM_001918.5(DBT):c.*4395G>A rs79471979 0.04616
NM_000137.4(FAH):c.1180+4A>G rs60585303 0.04595
NM_000182.5(HADHA):c.*510A>T rs13432453 0.04522
NM_025136.3(OPA3):c.-86G>A rs73570932 0.04481
NM_000554.6(CRX):c.*1792C>T rs56226622 0.04477
NM_012213.3(MLYCD):c.732G>A (p.Ser244=) rs2278038 0.04474
NM_025136.4(OPA3):c.*1387C>T rs73568986 0.04457
NM_001918.5(DBT):c.*985C>T rs11166414 0.04442
NM_000277.3(PAH):c.1278T>C (p.Asn426=) rs59326968 0.04425
NM_177965.4(CFAP418):c.*2525T>C rs74318654 0.04409
NM_000161.3(GCH1):c.*1056_*1057insAT rs144676716 0.04397
NM_001918.5(DBT):c.*5838G>A rs79887429 0.04380
NM_000108.5(DLD):c.1351C>T (p.Leu451=) rs1803921 0.04354
NM_032601.4(MCEE):c.*262G>A rs72903553 0.04345
NM_000048.4(ASL):c.602+13C>T rs12536292 0.04315
NM_020686.6(ABAT):c.*298C>T rs737694 0.04305
NM_025136.4(OPA3):c.*7015G>A rs112948303 0.04300
NM_012463.4(ATP6V0A2):c.*3227C>G rs111540619 0.04290
NM_183050.4(BCKDHB):c.*236G>A rs145101575 0.04280
NM_177965.4(CFAP418):c.*2163T>C rs75940981 0.04268
NM_006017.3(PROM1):c.1983+14G>A rs4698436 0.04259
NM_000440.3(PDE6A):c.2424G>A (p.Glu808=) rs10067462 0.04249
NM_018418.5(SPATA7):c.1601G>A (p.Arg534Gln) rs10139784 0.04245
NM_052845.4(MMAB):c.288T>C (p.Ile96=) rs62000414 0.04206
NM_001080.3(ALDH5A1):c.*2581T>C rs41271789 0.04178
NM_005327.7(HADH):c.636+13G>A rs17511214 0.04139
NM_000161.3(GCH1):c.*1142G>A rs10151500 0.04130
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val) rs35719359 0.04130
NM_000045.4(ARG1):c.270C>T (p.Asn90=) rs34504481 0.04124
NM_000326.5(RLBP1):c.*322C>T rs8039787 0.04087
NM_001352514.2(HLCS):c.727G>A (p.Val243Ile) rs61732502 0.04059
NM_002602.4(PDE6G):c.*316G>A rs60909116 0.04048
NM_000353.3(TAT):c.1173G>A (p.Glu391=) rs16973331 0.04038
NM_000016.6(ACADM):c.*39G>A rs17848065 0.04004
NM_000170.3(GLDC):c.1384C>G (p.Leu462Val) rs73400312 0.04004
NM_005327.4(HADH):c.*818A>G rs17511319 0.03973
NM_172250.3(MMAA):c.*2142T>C rs72723824 0.03954
NM_172250.3(MMAA):c.*2658G>A rs72723825 0.03953
NM_000360.4(TH):c.210T>C (p.Ala70=) rs7950050 0.03941
NM_001352514.2(HLCS):c.567G>T (p.Glu189Asp) rs61732504 0.03941
NM_004937.3(CTNS):c.*1866C>T rs111430685 0.03936
NM_002602.4(PDE6G):c.*484T>G rs1126835 0.03931
NM_004183.4(BEST1):c.696C>A (p.Ile232=) rs1805140 0.03928
NM_000156.6(GAMT):c.571-6G>A rs2074899 0.03927
NM_000317.3(PTS):c.405T>C (p.Thr135=) rs59731976 0.03898
NM_018418.5(SPATA7):c.971G>A (p.Gly324Glu) rs17124677 0.03851
NM_018418.5(SPATA7):c.284A>G (p.Gln95Arg) rs61747004 0.03845
NM_018418.5(SPATA7):c.357T>G (p.Phe119Leu) rs35137272 0.03845
NM_000126.4(ETFA):c.*268A>G rs80292319 0.03836
NM_018418.5(SPATA7):c.494G>A (p.Ser165Asn) rs17124662 0.03831
NM_004937.3(CTNS):c.*1633C>G rs112032534 0.03822
NM_018418.5(SPATA7):c.546T>C (p.Ser182=) rs17124665 0.03818
NM_004937.3(CTNS):c.*1595C>T rs112299490 0.03812
NM_001081.4(CUBN):c.109A>C (p.Ile37Leu) rs76788243 0.03753
NM_172250.3(MMAA):c.*306T>A rs74409983 0.03738
NM_001012720.2(RGR):c.722C>T (p.Ser241Phe) rs61730895 0.03728
NM_003322.6(TULP1):c.*268C>A rs114707578 0.03691
NM_000541.5(SAG):c.1047-13T>C rs73995909 0.03685
NM_004698.4(PRPF3):c.378C>T (p.Ile126=) rs59082627 0.03658
NM_144596.4(TTC8):c.1432-12T>C rs79747892 0.03653
NM_144596.4(TTC8):c.*472A>C rs59300815 0.03638
NM_018418.5(SPATA7):c.191-14C>A rs60770744 0.03598
NM_006017.3(PROM1):c.228G>A (p.Leu76=) rs76963591 0.03578
NM_004937.3(CTNS):c.*2115G>A rs77196744 0.03574
NM_004698.4(PRPF3):c.*228A>G rs41300863 0.03569
NM_012213.3(MLYCD):c.444C>T (p.Asp148=) rs62640904 0.03566
NM_014252.4(SLC25A15):c.*1626A>G rs59670947 0.03522
NM_002108.4(HAL):c.-127C>A rs11108369 0.03510
NM_001902.6(CTH):c.*544G>A rs45615634 0.03474
NM_002860.4(ALDH18A1):c.-79A>G rs117502632 0.03469
NM_000320.3(QDPR):c.255C>T (p.Cys85=) rs12645938 0.03464
NM_000018.4(ACADVL):c.194C>T (p.Pro65Leu) rs28934585 0.03462
NM_177965.4(CFAP418):c.*1604C>G rs62522657 0.03460
NM_014252.4(SLC25A15):c.*2097T>A rs17592947 0.03453
NM_001297.5(CNGB1):c.440T>G (p.Leu147Arg) rs61997173 0.03447
NM_001918.5(DBT):c.715A>G (p.Ile239Val) rs72973763 0.03442
NM_002860.4(ALDH18A1):c.1770C>T (p.Ser590=) rs11541780 0.03433
NM_003748.4(ALDH4A1):c.*502A>G rs1802783 0.03425
NM_177965.4(CFAP418):c.*1667T>C rs62522656 0.03418
NM_005589.4(ALDH6A1):c.*2994A>C rs114251476 0.03392
NM_000322.5(PRPH2):c.-11A>C rs114062933 0.03391
NM_001029883.3(PCARE):c.679G>A (p.Glu227Lys) rs114057537 0.03342
NM_004937.3(CTNS):c.970+15G>A rs76153698 0.03340
NM_004937.3(CTNS):c.-230+11A>G rs116000219 0.03310
NM_001029883.3(PCARE):c.*1912T>A rs72861027 0.03304
NM_000017.4(ACADS):c.511C>T (p.Arg171Trp) rs1800556 0.03280
NM_001875.5(CPS1):c.4275-10A>G rs41272673 0.03250
NM_012469.4(PRPF6):c.-25C>T rs45558633 0.03237
NM_001297.5(CNGB1):c.1473G>A (p.Pro491=) rs9925973 0.03233
NM_005271.5(GLUD1):c.1060-10T>A rs17096421 0.03225
NM_206933.4(USH2A):c.4627+699C>A rs59704861 0.03223
NM_000541.5(SAG):c.321G>C (p.Leu107=) rs59676190 0.03222
NM_177965.4(CFAP418):c.55C>G (p.Pro19Ala) rs36096184 0.03219
NM_006269.2(RP1):c.4784G>A (p.Arg1595Gln) rs35084330 0.03211
NM_000440.3(PDE6A):c.1791C>T (p.Phe597=) rs61733360 0.03204
NM_004170.6(SLC1A1):c.*1361T>C rs1051825 0.03183
NM_000440.3(PDE6A):c.2400C>T (p.Asp800=) rs4705390 0.03160
NM_000045.3(ARG1):c.-65C>T rs17788484 0.03152
NM_000717.5(CA4):c.-24G>C rs345191 0.03134
NM_006269.2(RP1):c.3699C>T (p.Ser1233=) rs114557304 0.03129
NM_006721.4(ADK):c.705T>C (p.Asp235=) rs16931480 0.03126
NM_001297.5(CNGB1):c.453C>T (p.Asp151=) rs16959602 0.03121
NM_003982.4(SLC7A7):c.456C>T (p.Phe152=) rs8016634 0.03113
NM_020686.6(ABAT):c.129G>A (p.Gly43=) rs2228081 0.03085
NM_014252.4(SLC25A15):c.*48T>A rs145530626 0.03065
NM_004172.5(SLC1A3):c.*133A>G rs6879542 0.03052
NM_012213.3(MLYCD):c.31A>G (p.Arg11Gly) rs138107830 0.03048
NM_001918.5(DBT):c.*6646G>T rs72973747 0.03031
NM_001297.5(CNGB1):c.534+7C>G rs16959600 0.03025
NM_152443.3(RDH12):c.-275+12C>T rs73276636 0.03015
NM_016247.4(IMPG2):c.*2278C>G rs72930551 0.03006
NM_002860.4(ALDH18A1):c.1977C>T (p.Ser659=) rs1804934 0.02975
NM_001297.5(CNGB1):c.2892+6C>T rs16942441 0.02927
NM_020686.6(ABAT):c.1147C>T (p.Leu383=) rs2229158 0.02911
NM_004172.5(SLC1A3):c.*1415G>A rs73089449 0.02907
NM_000709.4(BCKDHA):c.1260C>T (p.Leu420=) rs34492894 0.02893
NM_004170.6(SLC1A1):c.*1603A>G rs1051835 0.02887
NM_001081.4(CUBN):c.3417A>G (p.Leu1139=) rs1801228 0.02872
NM_000531.6(OTC):c.809A>G (p.Gln270Arg) rs1800328 0.02868
NM_005148.4(UNC119):c.*72C>T rs1802094 0.02861
NM_012213.3(MLYCD):c.850A>G (p.Thr284Ala) rs62640903 0.02854
NM_000277.3(PAH):c.-81C>T rs7954004 0.02852
NM_001875.5(CPS1):c.*829T>C rs79296773 0.02814
NM_006445.4(PRPF8):c.3939G>A (p.Pro1313=) rs35169383 0.02787
NM_006445.4(PRPF8):c.6294G>A (p.Lys2098=) rs11559309 0.02784
NM_006445.4(PRPF8):c.4639-13G>A rs62088058 0.02780
NM_000018.4(ACADVL):c.128G>A (p.Gly43Asp) rs2230178 0.02763
NM_002098.6(GUCA1B):c.*480G>A rs113734032 0.02758
NM_002602.4(PDE6G):c.*393C>T rs57654048 0.02750
NM_000411.8(HLCS):c.-393+11G>T rs557368288 0.02745
NM_000283.4(PDE6B):c.*191C>A rs111449765 0.02743
NM_000017.4(ACADS):c.*310C>G rs116733542 0.02741
NM_000709.4(BCKDHA):c.996-6G>A rs74586298 0.02713
NM_000360.4(TH):c.186G>A (p.Ser62=) rs34510659 0.02696
NM_002225.5(IVD):c.*596G>A rs115034694 0.02695
NM_002225.5(IVD):c.*195C>T rs77680513 0.02693
NM_000108.5(DLD):c.685-14T>A rs80111449 0.02691
NM_002225.5(IVD):c.*447C>G rs79191320 0.02689
NM_014049.5(ACAD9):c.976G>A (p.Ala326Thr) rs115532916 0.02662
NM_001918.5(DBT):c.*344G>T rs58607634 0.02661
NM_014014.5(SNRNP200):c.5386C>T (p.Leu1796=) rs34435094 0.02646
NM_014014.5(SNRNP200):c.2422-8C>T rs79583389 0.02643
NM_004744.5(LRAT):c.*3618G>A rs17032002 0.02639
NM_014251.3(SLC25A13):c.1884C>T (p.Asn628=) rs35539807 0.02629
NM_000322.5(PRPH2):c.*132C>T rs77363417 0.02609
NM_000709.4(BCKDHA):c.*309A>G rs10421626 0.02605
NM_000322.5(PRPH2):c.*174C>T rs73426412 0.02603
NM_000283.4(PDE6B):c.373C>G (p.Pro125Ala) rs28414606 0.02568
NM_000283.4(PDE6B):c.384C>T (p.Ser128=) rs28510278 0.02567
NM_014049.5(ACAD9):c.787T>C (p.Leu263=) rs1979529 0.02566
NM_005589.4(ALDH6A1):c.*1032C>T rs146306002 0.02550
NM_000170.3(GLDC):c.666T>C (p.Asp222=) rs12004164 0.02547
NM_000440.3(PDE6A):c.*2769A>C rs78827133 0.02540
NM_006445.4(PRPF8):c.993-7A>G rs62089988 0.02527
NM_012463.4(ATP6V0A2):c.2438C>T (p.Ala813Val) rs17883456 0.02527
NM_001080.3(ALDH5A1):c.545C>T (p.Pro182Leu) rs3765310 0.02518
NM_004937.3(CTNS):c.*1578C>G rs142813435 0.02513
NM_052845.4(MMAB):c.*3178C>A rs73414071 0.02490
NM_001081.4(CUBN):c.8635C>A (p.Leu2879Ile) rs1801238 0.02483
NM_052845.4(MMAB):c.*2628C>T rs73414074 0.02477
NM_052845.4(MMAB):c.*564G>C rs56760240 0.02466
NM_000187.4(HGD):c.1191A>C (p.Ala397=) rs137923025 0.02463
NM_032601.4(MCEE):c.428G>A (p.Arg143His) rs115175255 0.02453
NM_000322.5(PRPH2):c.*276G>C rs76754927 0.02448
NM_052845.4(MMAB):c.*374T>A rs549601416 0.02435
NM_001080.3(ALDH5A1):c.106G>C (p.Gly36Arg) rs4646832 0.02421
NM_000018.4(ACADVL):c.1038G>A (p.Ala346=) rs8064573 0.02419
NM_015629.4(PRPF31):c.239-13C>T rs113691122 0.02419
NM_001918.5(DBT):c.*8977T>C rs113536022 0.02409
NM_000329.3(RPE65):c.1301C>T (p.Ala434Val) rs34627040 0.02403
NM_000440.3(PDE6A):c.*2771G>C rs17110632 0.02378
NM_000539.3(RHO):c.*313C>T rs55941599 0.02366
NM_001081.4(CUBN):c.2791+14C>T rs111781659 0.02354
NM_020686.6(ABAT):c.*1501A>G rs17651562 0.02340
NM_012463.4(ATP6V0A2):c.1121A>G (p.Lys374Arg) rs79134187 0.02323
NM_012463.4(ATP6V0A2):c.*1600G>A rs58028686 0.02320
NM_001002755.4(NFU1):c.286C>T (p.Arg96Cys) rs74637005 0.02312
NM_001080.3(ALDH5A1):c.*1407A>G rs73386199 0.02304
NM_002098.6(GUCA1B):c.475+8G>A rs114773899 0.02301
NM_001080.3(ALDH5A1):c.*302G>A rs74807590 0.02295
NM_001080.3(ALDH5A1):c.*765G>A rs11558625 0.02287
NM_015629.4(PRPF31):c.564G>A (p.Glu188=) rs1058572 0.02280
NM_000182.5(HADHA):c.1392+10G>A rs60085478 0.02277
NM_002098.6(GUCA1B):c.*429G>A rs114573886 0.02273
NM_001081.4(CUBN):c.196G>A (p.Gly66Arg) rs12259370 0.02267
NM_002150.3(HPD):c.338G>A (p.Arg113Gln) rs11833399 0.02263
NM_001029883.3(PCARE):c.2889C>T (p.Ser963=) rs144569618 0.02252
NM_000017.4(ACADS):c.*5G>A rs2229533 0.02244
NM_172250.3(MMAA):c.*2372T>A rs74719174 0.02233
NM_015702.3(MMADHC):c.-49T>C rs79997772 0.02222
NM_001354768.3(NRL):c.*834G>C rs1051718 0.02209
NM_058179.4(PSAT1):c.*252G>C rs17064358 0.02208
NM_002860.4(ALDH18A1):c.1029T>C (p.Ile343=) rs41291566 0.02201
NM_000019.4(ACAT1):c.-15C>G rs113348145 0.02192
NM_002225.5(IVD):c.1066-5C>T rs115077254 0.02192
NM_005327.4(HADH):c.-71C>T rs760202 0.02185
NM_004172.5(SLC1A3):c.*313T>A rs6860949 0.02184
NM_012463.4(ATP6V0A2):c.*2877T>A rs77765053 0.02183
NM_004698.4(PRPF3):c.1760-12C>T rs116427288 0.02182
NM_004698.4(PRPF3):c.1923G>A (p.Arg641=) rs79516325 0.02181
NM_012463.4(ATP6V0A2):c.*2357C>T rs117222175 0.02177
NM_004698.4(PRPF3):c.*42C>T rs77626125 0.02175
NM_005327.4(HADH):c.-193G>A rs10017687 0.02168
NM_000187.4(HGD):c.372C>T (p.Asp124=) rs140977117 0.02164
NM_000322.5(PRPH2):c.*839G>A rs73426405 0.02142
NM_000016.6(ACADM):c.489T>G (p.Pro163=) rs78392995 0.02136
NM_000353.3(TAT):c.*110C>T rs113110476 0.02095
NM_002098.6(GUCA1B):c.*488C>T rs7764586 0.02085
NM_000018.4(ACADVL):c.49C>T (p.Leu17Phe) rs2230179 0.02069
NM_001918.5(DBT):c.*4872A>G rs12044663 0.02047
NM_206933.4(USH2A):c.573A>G (p.Val191=) rs73102592 0.02039
NM_054012.4(ASS1):c.688+4T>C rs78432485 0.02036
NM_001609.4(ACADSB):c.*497C>T rs12248648 0.02030
NM_001352514.2(HLCS):c.*40A>G rs77014096 0.02028
NM_002225.5(IVD):c.*14C>T rs8040294 0.02023
NM_001080.3(ALDH5A1):c.*2985C>T rs114960321 0.02020
NM_001081.4(CUBN):c.7724C>G (p.Pro2575Arg) rs3740168 0.02019
NM_012463.4(ATP6V0A2):c.*3235A>G rs7310965 0.02017
NM_001352514.2(HLCS):c.2361C>T (p.Val787=) rs61732507 0.02015
NM_016247.4(IMPG2):c.3439C>T (p.Pro1147Ser) rs111784356 0.02010
NM_006343.3(MERTK):c.1493A>G (p.Asn498Ser) rs35858762 0.02007
NM_000541.5(SAG):c.*7C>T rs692 0.02006
NM_001081.4(CUBN):c.2791+6A>C rs78549445 0.01999
NM_001609.4(ACADSB):c.*4135G>A rs74159956 0.01990
NM_004172.5(SLC1A3):c.*981G>A rs890922 0.01986
NM_001394090.1(CFAP92):c.3281-2342G>A rs116106966 0.01973
NM_000709.4(BCKDHA):c.639C>T (p.Ile213=) rs10404506 0.01970
NM_001031710.3(KLHL7):c.1578T>C (p.Val526=) rs113256550 0.01964
NM_004172.5(SLC1A3):c.657G>C (p.Glu219Asp) rs2032892 0.01962
NM_022132.5(MCCC2):c.*1573C>G rs112693079 0.01960
NM_006915.3(RP2):c.844C>T (p.Arg282Trp) rs1805147 0.01957
NM_000387.6(SLC25A20):c.*698G>A rs14828 0.01955
NM_000026.4(ADSL):c.358-4G>A rs113199851 0.01950
NM_001609.4(ACADSB):c.*2670C>T rs144203038 0.01950
NM_001352514.2(HLCS):c.*1484A>G rs78926199 0.01946
NM_005802.5(TOPORS):c.58C>T (p.Pro20Ser) rs112527210 0.01946
NM_001918.5(DBT):c.*470G>A rs148424011 0.01941
NM_001352514.2(HLCS):c.*547C>T rs116526486 0.01940
NM_006445.4(PRPF8):c.4011A>G (p.Gln1337=) rs118000367 0.01936
NM_005589.4(ALDH6A1):c.*2680A>G rs10139971 0.01924
NM_201548.5(CERKL):c.*347A>G rs77496071 0.01923
NM_006445.4(PRPF8):c.1290-10A>G rs73291009 0.01904
NM_012469.4(PRPF6):c.*7G>A rs114637353 0.01901
NM_001875.5(CPS1):c.*754T>G rs73078125 0.01899
NM_014252.4(SLC25A15):c.*898C>T rs12585190 0.01899
NM_006445.4(PRPF8):c.2873-13T>C rs57276551 0.01890
NM_014249.4(NR2E3):c.*567C>A rs71395043 0.01879
NM_006899.5(IDH3B):c.636G>A (p.Lys212=) rs114253155 0.01866
NM_004183.4(BEST1):c.201G>C (p.Leu67=) rs1801393 0.01850
NM_004170.6(SLC1A1):c.149T>A (p.Phe50Tyr) rs2228621 0.01849
NM_001698.3(AUH):c.*107A>G rs75505223 0.01845
NM_000019.3(ACAT1):c.*555A>G rs111376037 0.01843
NM_000883.4(IMPDH1):c.*228G>A rs72624976 0.01836
NM_183050.4(BCKDHB):c.*1158T>G rs74705661 0.01826
NM_004172.5(SLC1A3):c.*594G>A rs10428531 0.01823
NM_000137.4(FAH):c.*88C>T rs113381157 0.01818
NM_183050.4(BCKDHB):c.*726A>G rs147544283 0.01811
NM_000182.5(HADHA):c.1620+11G>C rs112236946 0.01807
NM_012463.4(ATP6V0A2):c.1016G>A (p.Arg339His) rs74922060 0.01800
NM_000281.4(PCBD1):c.*253T>A rs77029400 0.01796
NM_001875.5(CPS1):c.2448C>T (p.Cys816=) rs75395645 0.01788
NM_001002755.4(NFU1):c.62+9C>T rs114846829 0.01785
NM_001002755.2(NFU1):c.-166T>C rs73934936 0.01772
NM_014014.5(SNRNP200):c.5775C>G (p.Ala1925=) rs72825880 0.01765
NM_018368.4(LMBRD1):c.980+11T>C rs114726590 0.01756
NM_004170.6(SLC1A1):c.81G>C (p.Ala27=) rs2229885 0.01755
NM_005589.4(ALDH6A1):c.*2361G>A rs112689182 0.01755
NM_001081.4(CUBN):c.2571C>T (p.Asn857=) rs17432826 0.01751
NM_005589.4(ALDH6A1):c.*1623C>T rs112962625 0.01722
NM_005589.4(ALDH6A1):c.*1015C>T rs144507608 0.01721
NM_001081.4(CUBN):c.10265C>T (p.Thr3422Ile) rs1801230 0.01713
NM_000017.4(ACADS):c.*387A>G rs11065238 0.01712
NM_004172.5(SLC1A3):c.*1656G>C rs56129258 0.01708
NM_001354768.3(NRL):c.*1118G>A rs77284446 0.01707
NM_025136.4(OPA3):c.*3972C>T rs147972697 0.01701
NM_001609.4(ACADSB):c.168A>G (p.Thr56=) rs34221067 0.01697
NM_006623.4(PHGDH):c.139-13T>C rs894078 0.01680
NM_001142800.2(EYS):c.7597A>G (p.Lys2533Glu) rs114512007 0.01679
NM_003124.5(SPR):c.-7C>G rs184034436 0.01663
NM_014251.3(SLC25A13):c.*175A>G rs144877897 0.01662
NM_004937.3(CTNS):c.*851G>A rs75192283 0.01649
NM_000071.3(CBS):c.*540G>A rs111386779 0.01634
NM_001081.4(CUBN):c.8902G>C (p.Glu2968Gln) rs45569534 0.01626
NM_000883.4(IMPDH1):c.*634C>T rs1803822 0.01623
NM_015702.3(MMADHC):c.478+6T>G rs13402787 0.01622
NM_000883.4(IMPDH1):c.*597G>A rs1803821 0.01620
NM_003982.4(SLC7A7):c.272C>T (p.Ala91Val) rs11568438 0.01617
NM_001081.4(CUBN):c.*305T>G rs143326344 0.01612
NM_000360.4(TH):c.1035G>T (p.Ala345=) rs11826260 0.01611
NM_002098.6(GUCA1B):c.*295G>A rs73733110 0.01608
NM_001081.4(CUBN):c.*781C>T rs115080396 0.01607
NM_012463.4(ATP6V0A2):c.*1205C>G rs6488903 0.01582
NM_002098.6(GUCA1B):c.*433A>G rs140024841 0.01581
NM_022367.4(SEMA4A):c.2187G>A (p.Pro729=) rs41265019 0.01581
NM_002098.6(GUCA1B):c.*477C>T rs143063040 0.01574
NM_000161.3(GCH1):c.*1915T>C rs17128017 0.01571
NM_002098.6(GUCA1B):c.*1088G>C rs76451756 0.01569
NM_002098.6(GUCA1B):c.*1126A>G rs115180990 0.01569
NM_002098.6(GUCA1B):c.*1203T>C rs75437254 0.01565
NM_002098.6(GUCA1B):c.*928A>G rs114824449 0.01564
NM_001080.3(ALDH5A1):c.727-15T>C rs13362724 0.01562
NM_000048.4(ASL):c.718+14A>T rs117035302 0.01554
NM_001081.4(CUBN):c.5924C>T (p.Pro1975Leu) rs41289303 0.01542
NM_000883.4(IMPDH1):c.-69T>G rs72624936 0.01538
NM_005589.4(ALDH6A1):c.*1181G>A rs150649694 0.01512
NM_052845.4(MMAB):c.*380A>T rs74967596 0.01505
NM_006445.4(PRPF8):c.6247C>T (p.Leu2083=) rs34341522 0.01503
NM_000282.4(PCCA):c.1745C>T (p.Ser582Leu) rs16957356 0.01499
NM_172250.3(MMAA):c.*434C>T rs72950841 0.01492
NM_000017.4(ACADS):c.*500G>A rs639667 0.01483
NM_005802.5(TOPORS):c.2245A>G (p.Asn749Asp) rs17857515 0.01479
NM_020686.6(ABAT):c.*1819G>A rs78819878 0.01479
NM_020686.6(ABAT):c.*318T>C rs78352097 0.01478
NM_001875.5(CPS1):c.3355G>A (p.Ala1119Thr) rs76340296 0.01465
NM_000108.5(DLD):c.*855C>T rs116055514 0.01464
NM_006445.4(PRPF8):c.3299+14T>C rs16951071 0.01464
NM_002225.5(IVD):c.*1208G>A rs7165233 0.01462
NM_025136.4(OPA3):c.*6275T>C rs74689727 0.01461
NM_015629.4(PRPF31):c.1230A>G (p.Thr410=) rs34154455 0.01460
NM_002225.5(IVD):c.*2285C>G rs114657778 0.01453
NM_006445.4(PRPF8):c.2631G>A (p.Ala877=) rs35420265 0.01452
NM_015629.4(PRPF31):c.1302A>G (p.Val434=) rs35230170 0.01449
NM_001080.3(ALDH5A1):c.726+3G>A rs114082057 0.01442
NM_206933.4(USH2A):c.4371G>A (p.Ser1457=) rs56013136 0.01440
NM_000554.6(CRX):c.101-12A>G rs73941294 0.01428
NM_001029883.3(PCARE):c.755C>A (p.Ala252Asp) rs77003681 0.01424
NM_001609.4(ACADSB):c.*109G>A rs34955007 0.01422
NM_000274.4(OAT):c.-53C>T rs117824913 0.01420
NM_002860.4(ALDH18A1):c.1115C>A (p.Ser372Tyr) rs3765571 0.01418
NM_002098.6(GUCA1B):c.*666G>T rs140229339 0.01415
NM_012469.4(PRPF6):c.120A>G (p.Ala40=) rs34062309 0.01415
NM_006445.4(PRPF8):c.1855-13C>T rs16951135 0.01407
NM_000026.4(ADSL):c.440A>T (p.Lys147Met) rs11089991 0.01397
NM_172250.3(MMAA):c.*3824C>A rs72950842 0.01396
NM_005271.5(GLUD1):c.342T>C (p.His114=) rs142544510 0.01392
NM_000048.4(ASL):c.1164C>T (p.His388=) rs75300185 0.01380
NM_153006.3(NAGS):c.182A>G (p.Glu61Gly) rs113134544 0.01375
NM_001081.4(CUBN):c.*93C>A rs111644764 0.01367
NM_014049.5(ACAD9):c.1430G>A (p.Arg477Gln) rs4494951 0.01364
NM_004453.4(ETFDH):c.1690+15C>T rs11931339 0.01356
NM_014249.4(NR2E3):c.505C>T (p.Leu169=) rs1805022 0.01351
NM_172250.3(MMAA):c.*4336A>G rs138752110 0.01347
NM_000017.4(ACADS):c.360C>T (p.Asn120=) rs76543640 0.01346
NM_001002755.4(NFU1):c.151G>T (p.Ala51Ser) rs76646410 0.01339
NM_020686.6(ABAT):c.*99G>C rs76717569 0.01330
NM_000170.3(GLDC):c.1815C>T (p.Leu605=) rs74461075 0.01328
NM_000017.4(ACADS):c.*115G>A rs2229534 0.01325
NM_006721.4(ADK):c.727-11T>C rs12778270 0.01325
NM_012463.4(ATP6V0A2):c.1039-14T>C rs115569365 0.01308
NM_172250.3(MMAA):c.*1782A>G rs114134771 0.01301
NM_001609.3(ACADSB):c.-97T>C rs148327034 0.01294
NM_000019.4(ACAT1):c.*179T>G rs114728153 0.01290
NM_001875.5(CPS1):c.1068C>G (p.Val356=) rs34022862 0.01287
NM_014251.3(SLC25A13):c.1671C>T (p.Thr557=) rs79886797 0.01284
NM_206933.4(USH2A):c.4627+32G>T rs75662936 0.01284
NM_033100.4(CDHR1):c.*3504A>C rs114617516 0.01276
NM_012469.4(PRPF6):c.-79C>T rs114227570 0.01256
NM_000554.6(CRX):c.*2299C>T rs73038757 0.01254
NM_177965.4(CFAP418):c.*2419T>A rs74748655 0.01254
NM_006623.4(PHGDH):c.318C>T (p.Ala106=) rs115747918 0.01251
NM_177965.4(CFAP418):c.*644C>G rs77165822 0.01246
NM_002860.4(ALDH18A1):c.*611G>A rs41291562 0.01242
NM_001918.5(DBT):c.*5919A>G rs115442245 0.01236
NM_001081.4(CUBN):c.*151G>A rs76742384 0.01235
NM_002150.3(HPD):c.1018G>T (p.Val340Leu) rs36023382 0.01235
NM_012469.4(PRPF6):c.1239G>A (p.Leu413=) rs41278236 0.01231
NM_006445.4(PRPF8):c.2409G>A (p.Ala803=) rs114284408 0.01227
NM_000071.3(CBS):c.*81G>A rs115406358 0.01211
NM_004172.5(SLC1A3):c.*1381A>G rs1803715 0.01210
NM_172250.3(MMAA):c.138T>C (p.Ser46=) rs34702224 0.01204
NM_004937.3(CTNS):c.*2127G>A rs72835828 0.01197
NM_000554.6(CRX):c.*1220G>A rs58323327 0.01193
NM_001352514.2(HLCS):c.331-7111G>A rs77067023 0.01191
NM_012463.4(ATP6V0A2):c.*2646A>G rs77292614 0.01186
NM_000137.4(FAH):c.-34C>T rs142522569 0.01180
NM_000539.3(RHO):c.*1601C>T rs187923166 0.01177
NM_000554.6(CRX):c.*3117A>G rs116336713 0.01169
NM_012463.4(ATP6V0A2):c.2549A>G (p.Asn850Ser) rs75279884 0.01166
NM_000322.5(PRPH2):c.*1230C>T rs79663042 0.01163
NM_183050.4(BCKDHB):c.*440A>T rs113404985 0.01152
NM_012463.4(ATP6V0A2):c.1606-12G>A rs112415338 0.01148
NM_000019.3(ACAT1):c.*250C>T rs79179095 0.01146
NM_002098.6(GUCA1B):c.*618G>A rs150308756 0.01146
NM_206933.4(USH2A):c.3945T>C (p.Asn1315=) rs41303257 0.01136
NM_014252.4(SLC25A15):c.*1945G>A rs114817943 0.01135
NM_000016.6(ACADM):c.900C>T (p.Thr300=) rs17097429 0.01131
NM_000539.3(RHO):c.*488T>C rs78163008 0.01127
NM_004172.5(SLC1A3):c.*1081C>T rs7724801 0.01123
NM_152443.3(RDH12):c.*385T>C rs28407185 0.01123
NM_005589.4(ALDH6A1):c.*2517T>C rs145794069 0.01119
NM_177965.4(CFAP418):c.*2094C>T rs145349633 0.01119
NM_006623.4(PHGDH):c.792+6T>G rs146953046 0.01118
NM_022132.5(MCCC2):c.*1381A>C rs115650149 0.01118
NM_005327.4(HADH):c.-65G>A rs28703310 0.01115
NM_018368.4(LMBRD1):c.801C>T (p.Arg267=) rs34327883 0.01106
NM_014252.4(SLC25A15):c.*1494A>G rs113342797 0.01105
NM_005802.5(TOPORS):c.2435C>G (p.Pro812Arg) rs36034138 0.01098
NM_012463.4(ATP6V0A2):c.*3654A>G rs77670478 0.01086
NM_014384.3(ACAD8):c.20G>C (p.Arg7Pro) rs35181923 0.01086
NM_012463.4(ATP6V0A2):c.*1731C>T rs114514797 0.01081
NM_012463.4(ATP6V0A2):c.*2329G>A rs113118376 0.01080
NM_000539.3(RHO):c.*33C>T rs113310993 0.01076
NM_000717.5(CA4):c.700G>A (p.Val234Ile) rs117704637 0.01071
NM_006445.4(PRPF8):c.3061-11T>G rs11652160 0.01070
NM_001352514.2(HLCS):c.1494C>T (p.Asn498=) rs1065759 0.01068
NM_015702.3(MMADHC):c.412G>A (p.Glu138Lys) rs61746421 0.01067
NM_015702.3(MMADHC):c.428G>T (p.Ser143Ile) rs34886916 0.01066
NM_022367.4(SEMA4A):c.2044C>T (p.Pro682Ser) rs76381440 0.01066
NM_001142800.2(EYS):c.5044G>T (p.Asp1682Tyr) rs75831552 0.01062
NM_022132.5(MCCC2):c.1578A>G (p.Val526=) rs114527907 0.01062
NM_012469.4(PRPF6):c.1449G>A (p.Val483=) rs111366685 0.01057
NM_000360.4(TH):c.1200+9C>T rs11564717 0.01045
NM_001394090.1(CFAP92):c.3280+2181A>C rs114763241 0.01039
NM_015629.4(PRPF31):c.*19G>A rs116685547 0.01038
NM_006721.4(ADK):c.726+11T>G rs45529443 0.01033
NM_000353.3(TAT):c.*1276T>A rs75855289 0.01032
NM_001081.4(CUBN):c.*45C>T rs7085076 0.01027
NM_001918.5(DBT):c.1281+6T>G rs140115881 0.01022
NM_014251.3(SLC25A13):c.675G>A (p.Ser225=) rs78247004 0.01022
NM_000554.6(CRX):c.*2017C>T rs73038753 0.01017
NM_001081.4(CUBN):c.8741C>T (p.Ala2914Val) rs45551835 0.01006
NM_014384.3(ACAD8):c.210+6C>T rs148089913 0.01003
NM_004170.6(SLC1A1):c.*366T>C rs77785435 0.00997
NM_001029883.3(PCARE):c.3840G>A (p.Ala1280=) rs115730331 0.00993
NM_000108.5(DLD):c.*648G>A rs57801571 0.00985
NM_000108.5(DLD):c.249T>C (p.Val83=) rs2228664 0.00985
NM_006269.2(RP1):c.1118C>T (p.Thr373Ile) rs77775126 0.00985
NM_005589.4(ALDH6A1):c.*1006C>T rs146605362 0.00981
NM_001002755.4(NFU1):c.411T>C (p.Ile137=) rs12474866 0.00978
NM_000019.3(ACAT1):c.*293A>T rs73559273 0.00975
NM_015702.3(MMADHC):c.*164A>G rs147662711 0.00973
NM_000026.4(ADSL):c.124C>T (p.Leu42=) rs2228415 0.00969
NM_000019.3(ACAT1):c.*507G>A rs12271846 0.00968
NM_003982.4(SLC7A7):c.96G>A (p.Lys32=) rs45479698 0.00958
NM_000108.5(DLD):c.777A>G (p.Lys259=) rs1065762 0.00944
NM_000137.4(FAH):c.483C>T (p.Gly161=) rs116272698 0.00943
NM_000019.4(ACAT1):c.978A>C (p.Pro326=) rs73559264 0.00941
NM_000108.5(DLD):c.*1300A>G rs77095705 0.00939
NM_001029883.3(PCARE):c.1942G>A (p.Ala648Thr) rs75276619 0.00938
NM_002225.5(IVD):c.88C>T (p.His30Tyr) rs73383128 0.00938
NM_033100.4(CDHR1):c.*1360C>A rs73317918 0.00938
NM_033100.4(CDHR1):c.*767C>T rs60075421 0.00937
NM_054012.4(ASS1):c.766G>A (p.Glu256Lys) rs74923032 0.00937
NM_012463.4(ATP6V0A2):c.777G>A (p.Arg259=) rs73420336 0.00931
NM_000255.4(MMUT):c.711A>G (p.Pro237=) rs138085432 0.00930
NM_000137.4(FAH):c.855G>A (p.Pro285=) rs73481171 0.00927
NM_014384.3(ACAD8):c.211-4A>G rs517424 0.00927
NM_020686.6(ABAT):c.168+12A>G rs75151311 0.00925
NM_020686.6(ABAT):c.603+3G>A rs41312254 0.00925
NM_000018.4(ACADVL):c.1600G>A (p.Glu534Lys) rs2230180 0.00920
NM_000018.4(ACADVL):c.623-8C>T rs144996066 0.00919
NM_000108.5(DLD):c.1422A>C (p.Gly474=) rs34453495 0.00918
NM_005589.4(ALDH6A1):c.*980A>G rs148780249 0.00914
NM_005589.4(ALDH6A1):c.731-12T>C rs10146187 0.00912
NM_001081.4(CUBN):c.4872C>T (p.Ile1624=) rs114958584 0.00910
NM_000322.5(PRPH2):c.*1565G>A rs41273818 0.00908
NM_054012.3(ASS1):c.-172C>T rs142263406 0.00899
NM_001029883.3(PCARE):c.773G>T (p.Arg258Ile) rs116156338 0.00898
NM_000709.4(BCKDHA):c.34C>A (p.Arg12=) rs34541442 0.00893
NM_000717.5(CA4):c.*17G>A rs2229179 0.00893
NM_000187.4(HGD):c.1179T>C (p.Asp393=) rs146482816 0.00886
NM_001080.3(ALDH5A1):c.*2597A>G rs150044083 0.00885
NM_001609.3(ACADSB):c.-87G>T rs150850221 0.00878
NM_001609.3(ACADSB):c.-89G>T rs141443308 0.00878
NM_006269.2(RP1):c.*72G>A rs73679499 0.00870
NM_001918.5(DBT):c.724T>C (p.Ser242Pro) rs146249007 0.00864
NM_001875.5(CPS1):c.1359+7G>A rs16844647 0.00860
NM_002900.3(RBP3):c.2077G>A (p.Val693Met) rs112888313 0.00857
NM_001297.5(CNGB1):c.1373-11C>A rs2303782 0.00856
NM_001080.3(ALDH5A1):c.*814G>T rs9461036 0.00853
NM_000709.4(BCKDHA):c.*125C>T rs140867211 0.00851
NM_004577.4(PSPH):c.169C>T (p.Pro57Ser) rs79321413 0.00851
NM_001352514.2(HLCS):c.1412G>A (p.Arg471His) rs61732501 0.00850
NM_000019.3(ACAT1):c.*214G>C rs145690535 0.00839
NM_203288.2(RP9):c.*420C>G rs79133824 0.00839
NM_001080.3(ALDH5A1):c.*1286A>G rs9467217 0.00833
NM_001081.4(CUBN):c.6561G>A (p.Ser2187=) rs11254278 0.00833
NM_006269.2(RP1):c.2255C>T (p.Thr752Met) rs28399531 0.00832
NM_001875.5(CPS1):c.-29T>G rs147937942 0.00830
NM_005589.4(ALDH6A1):c.*2298G>A rs76665287 0.00830
NM_006269.2(RP1):c.2991T>C (p.Asn997=) rs112667487 0.00829
NM_001875.5(CPS1):c.2394C>A (p.Val798=) rs35678745 0.00828
NM_002098.6(GUCA1B):c.465G>T (p.Glu155Asp) rs139923590 0.00822
NM_000322.5(PRPH2):c.*1534T>C rs115252154 0.00821
NM_012213.3(MLYCD):c.*618G>C rs75701127 0.00812
NM_000137.4(FAH):c.165C>T (p.Leu55=) rs28733633 0.00811
NM_000541.5(SAG):c.93G>A (p.Gly31=) rs79063407 0.00807
NM_001081.4(CUBN):c.6788T>G (p.Phe2263Cys) rs2271460 0.00803
NM_000360.4(TH):c.487+3G>A rs11042950 0.00795
NM_000071.3(CBS):c.*566G>A rs111969522 0.00793
NM_000709.4(BCKDHA):c.452C>T (p.Thr151Met) rs34442879 0.00790
NM_000320.3(QDPR):c.96C>T (p.Ala32=) rs2518608 0.00789
NM_001081.4(CUBN):c.10039G>A (p.Gly3347Arg) rs146027947 0.00789
NM_004577.4(PSPH):c.-429G>T rs145447387 0.00789
NM_004577.4(PSPH):c.650T>C (p.Val217Ala) rs73343752 0.00788
NM_002900.3(RBP3):c.1037G>A (p.Arg346His) rs111245635 0.00786
NM_002900.3(RBP3):c.3546C>T (p.His1182=) rs74578742 0.00786
NM_012469.4(PRPF6):c.2340-11T>C rs113298469 0.00784
NM_000274.4(OAT):c.200-10T>C rs80313473 0.00780
NM_015629.4(PRPF31):c.420+7G>A rs143717956 0.00780
NM_000277.3(PAH):c.1242C>T (p.Tyr414=) rs1801152 0.00779
NM_000191.3(HMGCL):c.48G>A (p.Ala16=) rs115611440 0.00769
NM_012463.4(ATP6V0A2):c.*1645G>A rs74994957 0.00766
NM_015629.4(PRPF31):c.1416G>A (p.Val472=) rs145958840 0.00763
NM_001080.3(ALDH5A1):c.10T>G (p.Cys4Gly) rs200793796 0.00760
NM_001081.4(CUBN):c.2594G>A (p.Ser865Asn) rs138083522 0.00756
NM_004577.4(PSPH):c.*8T>C rs140998795 0.00754
NM_012463.4(ATP6V0A2):c.*1064G>A rs7980215 0.00751
NM_000709.4(BCKDHA):c.995+9C>T rs13343330 0.00750
NM_012463.4(ATP6V0A2):c.*1837T>C rs115183932 0.00749
NM_020166.5(MCCC1):c.-24A>G rs11540930 0.00749
NM_004744.5(LRAT):c.74T>A (p.Phe25Tyr) rs75368761 0.00748
NM_012463.4(ATP6V0A2):c.*3357G>C rs7297473 0.00748
NM_004172.5(SLC1A3):c.*694T>C rs186603216 0.00747
NM_012463.4(ATP6V0A2):c.*2710G>A rs145999411 0.00742
NM_000717.5(CA4):c.716G>A (p.Arg239Gln) rs76995634 0.00739
NM_014014.5(SNRNP200):c.210-11A>T rs113877776 0.00739
NM_001354768.3(NRL):c.*558C>T rs114327952 0.00737
NM_006915.3(RP2):c.*2085T>C rs73478384 0.00737
NM_054012.4(ASS1):c.675C>T (p.Ile225=) rs58233547 0.00735
NM_001031710.3(KLHL7):c.*35A>G rs2286273 0.00731
NM_003124.5(SPR):c.*432G>A rs61518691 0.00729
NM_000170.3(GLDC):c.2380G>A (p.Ala794Thr) rs141933811 0.00728
NM_001031710.3(KLHL7):c.*971G>T rs78612254 0.00728
NM_001081.4(CUBN):c.6924A>T (p.Ser2308=) rs115303408 0.00727
NM_012463.4(ATP6V0A2):c.2054G>A (p.Arg685Gln) rs7969410 0.00727
NM_001918.5(DBT):c.*7358C>T rs143822588 0.00725
NM_000531.6(OTC):c.751T>C (p.Leu251=) rs36005267 0.00722
NM_058179.4(PSAT1):c.*251C>T rs76966550 0.00717
NM_020686.6(ABAT):c.1269+4A>C rs183947905 0.00716
NM_000327.3(ROM1):c.-438G>A rs576371643 0.00715
NM_001918.5(DBT):c.*8944A>G rs77587629 0.00713
NM_020686.6(ABAT):c.*31C>T rs147333757 0.00712
NM_000170.3(GLDC):c.319A>G (p.Met107Val) rs138454333 0.00707
NM_000360.4(TH):c.684G>A (p.Glu228=) rs11564716 0.00706
NM_001080.3(ALDH5A1):c.1389T>C (p.Asp463=) rs58747567 0.00705
NM_152443.3(RDH12):c.-152A>G rs76635633 0.00699
NM_000071.3(CBS):c.829-12C>T rs75616587 0.00698
NM_001081.4(CUBN):c.*872T>C rs116825641 0.00690
NM_006269.2(RP1):c.2833G>T (p.Val945Leu) rs16920621 0.00690
NM_014249.4(NR2E3):c.694G>A (p.Val232Ile) rs1805023 0.00690
NM_001081.4(CUBN):c.5098G>A (p.Asp1700Asn) rs116114483 0.00681
NM_000554.6(CRX):c.*2880T>C rs142202442 0.00672
NM_012463.4(ATP6V0A2):c.1872G>A (p.Leu624=) rs73420342 0.00672
NM_002150.3(HPD):c.345C>T (p.Ala115=) rs59741465 0.00670
NM_000108.5(DLD):c.34G>A (p.Ala12Thr) rs75077312 0.00666
NM_002098.6(GUCA1B):c.*581G>A rs138314395 0.00660
NM_004170.6(SLC1A1):c.261C>T (p.Ser87=) rs79429045 0.00660
NM_014384.3(ACAD8):c.*168G>A rs144390733 0.00658
NM_000322.5(PRPH2):c.*989G>A rs142990052 0.00657
NM_001029883.3(PCARE):c.3059A>G (p.Gln1020Arg) rs200367963 0.00653
NM_005589.4(ALDH6A1):c.*1514A>G rs115564279 0.00652
NM_012463.4(ATP6V0A2):c.117+14G>A rs144930749 0.00652
NM_000137.4(FAH):c.139A>G (p.Lys47Glu) rs34749737 0.00650
NM_001081.4(CUBN):c.*737T>C rs114039309 0.00648
NM_001352514.2(HLCS):c.1969G>A (p.Gly657Arg) rs75867009 0.00642
NM_001081.4(CUBN):c.9491C>G (p.Ser3164Trp) rs57163243 0.00641
NM_206933.4(USH2A):c.848+5G>C rs74329863 0.00641
NM_004170.6(SLC1A1):c.165T>C (p.Pro55=) rs142903137 0.00639
NM_001080.3(ALDH5A1):c.*1473G>A rs75854500 0.00638
NM_001031710.3(KLHL7):c.1440A>G (p.Lys480=) rs118185564 0.00627
NM_000322.5(PRPH2):c.*1313G>A rs115451690 0.00625
NM_001002755.4(NFU1):c.-6A>G rs116604978 0.00625
NM_002150.3(HPD):c.15T>G (p.Ser5Arg) rs35849100 0.00625
NM_001875.5(CPS1):c.*314T>A rs115293884 0.00624
NM_006623.4(PHGDH):c.595C>G (p.Leu199Val) rs77632964 0.00622
NM_012463.4(ATP6V0A2):c.*3000G>A rs183891010 0.00622
NM_001875.5(CPS1):c.4260C>G (p.Leu1420=) rs138395129 0.00621
NM_000170.3(GLDC):c.2919+3A>G rs73639325 0.00620
NM_002900.3(RBP3):c.487T>C (p.Ser163Pro) rs35686775 0.00618
NM_001081.4(CUBN):c.963C>T (p.Pro321=) rs150309054 0.00617
NM_000071.3(CBS):c.573G>A (p.Thr191=) rs73906420 0.00615
NM_000554.6(CRX):c.*2375G>A rs188212480 0.00612
NM_012213.3(MLYCD):c.-7G>A rs9930103 0.00609
NM_014251.3(SLC25A13):c.1374G>A (p.Val458=) rs115266882 0.00605
NM_001918.5(DBT):c.*4094C>A rs74825164 0.00603
NM_006445.4(PRPF8):c.5469C>T (p.His1823=) rs115404141 0.00600
NM_006915.3(RP2):c.*2163T>C rs35931067 0.00599
NM_004172.5(SLC1A3):c.*1353A>G rs111227646 0.00597
NM_000440.3(PDE6A):c.*1720T>A rs74869635 0.00595
NM_001698.3(AUH):c.77G>A (p.Cys26Tyr) rs74484860 0.00593
NM_014014.5(SNRNP200):c.5933G>C (p.Gly1978Ala) rs75956769 0.00593
NM_054012.4(ASS1):c.106-10T>G rs73541957 0.00593
NM_004453.4(ETFDH):c.1468+15A>C rs146561214 0.00590
NM_001080.3(ALDH5A1):c.*2219T>C rs150916849 0.00589
NM_001029883.3(PCARE):c.3761C>T (p.Pro1254Leu) rs1975713 0.00587
NM_001352514.2(HLCS):c.726C>T (p.Pro242=) rs2230182 0.00587
NM_001126106.4(SLC7A7):c.-264C>T rs8015849 0.00586
NM_012469.4(PRPF6):c.-75G>A rs180973296 0.00586
NM_018368.4(LMBRD1):c.*395T>C rs80330045 0.00583
NM_000161.3(GCH1):c.-69G>C rs533157442 0.00580
NM_000170.3(GLDC):c.871T>G (p.Cys291Gly) rs141014950 0.00580
NM_004172.5(SLC1A3):c.*1747G>A rs6886600 0.00580
NM_004937.3(CTNS):c.*1206T>C rs115239409 0.00577
NM_005589.4(ALDH6A1):c.*2157C>T rs116025535 0.00573
NM_002860.4(ALDH18A1):c.*140C>T rs76824727 0.00570
NM_000108.5(DLD):c.*887T>C rs16872396 0.00569
NM_004172.5(SLC1A3):c.*451A>G rs141530300 0.00567
NM_001081.4(CUBN):c.2445C>T (p.Val815=) rs116350428 0.00561
NM_001081.4(CUBN):c.3752G>C (p.Ser1251Thr) rs115048360 0.00561
NM_005802.5(TOPORS):c.2160C>T (p.Tyr720=) rs74328058 0.00561
NM_001029883.3(PCARE):c.2063G>A (p.Cys688Tyr) rs149601594 0.00556
NM_002860.4(ALDH18A1):c.*56T>A rs114393346 0.00549
NM_000360.4(TH):c.579C>T (p.Gly193=) rs147852210 0.00547
NM_001875.5(CPS1):c.3029C>T (p.Thr1010Met) rs79627159 0.00546
NM_000182.5(HADHA):c.*561C>T rs115151034 0.00544
NM_014384.3(ACAD8):c.*683A>G rs112534410 0.00538
NM_001609.4(ACADSB):c.*1972C>A rs187582823 0.00537
NM_003124.5(SPR):c.112G>A (p.Val38Ile) rs146099322 0.00535
NM_004937.3(CTNS):c.*1165C>T rs112915401 0.00534
NM_000108.5(DLD):c.*1074C>G rs149275540 0.00531
NM_001081.4(CUBN):c.9340G>A (p.Gly3114Ser) rs117035284 0.00531
NM_004172.5(SLC1A3):c.*1050G>C rs114505475 0.00531
NM_000187.4(HGD):c.283-4C>T rs7652072 0.00530
NM_005518.4(HMGCS2):c.*822G>A rs116264779 0.00529
NM_001081.4(CUBN):c.9986C>T (p.Ser3329Leu) rs74431427 0.00513
NM_006915.3(RP2):c.*958A>C rs190692640 0.00507
NM_002098.6(GUCA1B):c.*473G>A rs183630773 0.00506
NM_000182.5(HADHA):c.*331T>C rs189483687 0.00500
NM_000554.6(CRX):c.*1961G>A rs117186518 0.00497
NM_000274.4(OAT):c.-38C>T rs9422945 0.00489
NM_001698.3(AUH):c.182C>A (p.Pro61His) rs181327211 0.00487
NM_022367.4(SEMA4A):c.1434+12C>A rs114835695 0.00483
NM_000329.3(RPE65):c.1155G>A (p.Thr385=) rs62653014 0.00481
NM_012469.4(PRPF6):c.2460C>T (p.Leu820=) rs61736635 0.00481
NM_153006.3(NAGS):c.284C>T (p.Pro95Leu) rs200607114 0.00480
NM_000071.3(CBS):c.531+11G>A rs186114513 0.00479
NM_000108.5(DLD):c.*474T>C rs16872391 0.00479
NM_002150.3(HPD):c.414G>A (p.Thr138=) rs140788110 0.00479
NM_005589.4(ALDH6A1):c.1455C>T (p.Thr485=) rs147004133 0.00477
NM_000554.6(CRX):c.*972C>G rs12462416 0.00473
NM_006721.4(ADK):c.987T>C (p.Ser329=) rs116653664 0.00468
NM_006915.3(RP2):c.*435C>T rs147975002 0.00468
NM_000360.4(TH):c.16G>A (p.Ala6Thr) rs74555599 0.00462
NM_002098.6(GUCA1B):c.-73G>A rs7752629 0.00462
NM_006269.2(RP1):c.616-6T>C rs186571865 0.00458
NM_002098.6(GUCA1B):c.*780C>T rs144675650 0.00455
NM_006445.4(PRPF8):c.101-3C>T rs75670228 0.00453
NM_020166.5(MCCC1):c.-25C>A rs149741951 0.00453
NM_000554.6(CRX):c.*2739G>A rs149039830 0.00452
NM_001482.3(GATM):c.*847G>A rs1145087 0.00446
NM_001031710.3(KLHL7):c.-235G>T rs75076913 0.00443
NM_000883.4(IMPDH1):c.*276C>T rs72624977 0.00426
NM_001354768.3(NRL):c.711C>G (p.Leu237=) rs8009051 0.00422
NM_001354768.3(NRL):c.441G>A (p.Arg147=) rs201197984 0.00421
NM_001031710.3(KLHL7):c.459G>A (p.Ala153=) rs150030941 0.00419
NM_001029883.3(PCARE):c.3789G>A (p.Leu1263=) rs199689791 0.00417
NM_000187.4(HGD):c.260A>C (p.Glu87Ala) rs35702995 0.00416
NM_000322.5(PRPH2):c.133C>T (p.Leu45Phe) rs61755770 0.00414
NM_000182.5(HADHA):c.1690-6G>A rs111662358 0.00412
NM_001875.5(CPS1):c.3687G>T (p.Lys1229Asn) rs115897023 0.00412
NM_014249.4(NR2E3):c.245+8C>T rs9920371 0.00409
NM_006915.3(RP2):c.606T>C (p.Pro202=) rs144795993 0.00408
NM_020686.6(ABAT):c.1452C>T (p.His484=) rs61730647 0.00407
NM_001081.4(CUBN):c.1003G>A (p.Ala335Thr) rs57335729 0.00406
NM_002098.6(GUCA1B):c.*997C>T rs114197333 0.00405
NM_000182.5(HADHA):c.68-10T>G rs144414842 0.00403
NM_001081.4(CUBN):c.7868A>C (p.Glu2623Ala) rs115449747 0.00403
NM_001698.3(AUH):c.927A>G (p.Glu309=) rs78739693 0.00399
NM_022367.4(SEMA4A):c.2027C>T (p.Ala676Val) rs75447909 0.00399
NM_000481.4(AMT):c.898A>G (p.Met300Val) rs144971200 0.00397
NM_001031710.3(KLHL7):c.*730C>T rs141265321 0.00395
NM_001352514.2(HLCS):c.2362G>A (p.Val788Met) rs150665851 0.00392
NM_000019.4(ACAT1):c.903G>A (p.Ala301=) rs75811190 0.00390
NM_000161.3(GCH1):c.68C>T (p.Pro23Leu) rs41298432 0.00389
NM_006269.2(RP1):c.5701C>T (p.Leu1901Phe) rs113793810 0.00389
NM_004172.5(SLC1A3):c.792G>A (p.Gly264=) rs139659178 0.00387
NM_001081.4(CUBN):c.3292G>T (p.Ala1098Ser) rs146593010 0.00386
NM_018368.4(LMBRD1):c.-18T>A rs202192515 0.00384
NM_003124.5(SPR):c.785A>G (p.Ter262=) rs145082655 0.00380
NM_203288.2(RP9):c.156C>T (p.Tyr52=) rs115938195 0.00378
NM_001609.4(ACADSB):c.786G>A (p.Pro262=) rs76111609 0.00373
NM_004170.6(SLC1A1):c.750C>T (p.Ile250=) rs116222972 0.00373
NM_001609.4(ACADSB):c.*1202G>A rs181209320 0.00371
NM_004170.6(SLC1A1):c.195C>G (p.Leu65=) rs114623304 0.00371
NM_001609.4(ACADSB):c.*473G>C rs189484621 0.00370
NM_002098.6(GUCA1B):c.*961A>C rs566086888 0.00362
NM_000360.4(TH):c.267G>A (p.Arg89=) rs76240471 0.00359
NM_000539.3(RHO):c.*1278G>T rs113312341 0.00359
NM_000554.6(CRX):c.*860C>T rs185098538 0.00359
NM_005327.7(HADH):c.662G>A (p.Arg221His) rs76476980 0.00358
NM_014014.5(SNRNP200):c.-81C>T rs117673613 0.00357
NM_004453.4(ETFDH):c.381C>T (p.Leu127=) rs149278633 0.00355
NM_005327.4(HADH):c.-102G>A rs182097151 0.00354
NM_014014.5(SNRNP200):c.3654C>T (p.Ser1218=) rs3214060 0.00353
NM_001081.4(CUBN):c.6997A>G (p.Ile2333Val) rs149507036 0.00349
NM_014249.4(NR2E3):c.349+8G>A rs112520386 0.00344
NM_001142800.2(EYS):c.2259+10C>T rs78511049 0.00343
NM_006445.4(PRPF8):c.4707G>A (p.Leu1569=) rs143237388 0.00343
NM_004172.5(SLC1A3):c.69T>A (p.Arg23=) rs140080134 0.00342
NM_001918.5(DBT):c.506G>A (p.Arg169Gln) rs34267966 0.00341
NM_018368.4(LMBRD1):c.18G>C (p.Ala6=) rs149650795 0.00341
NM_000554.6(CRX):c.*767G>A rs544037698 0.00339
NM_000554.6(CRX):c.*2137G>A rs181823708 0.00337
NM_001918.5(DBT):c.*2810A>G rs116578353 0.00337
NM_001918.5(DBT):c.*5347C>T rs116806523 0.00337
NM_203288.2(RP9):c.459G>A (p.Lys153=) rs145025032 0.00334
NM_020686.6(ABAT):c.816+7C>A rs376046736 0.00332
NM_000481.4(AMT):c.-1G>A rs143841175 0.00328
NM_001609.4(ACADSB):c.*3299C>G rs116019965 0.00328
NM_014014.5(SNRNP200):c.4165G>A (p.Val1389Ile) rs143898031 0.00328
NM_000687.4(AHCY):c.274A>G (p.Ile92Val) rs11552695 0.00327
NM_002860.4(ALDH18A1):c.2001G>A (p.Glu667=) rs78731297 0.00326
NM_020686.6(ABAT):c.366+11G>T rs141893184 0.00318
NM_002900.3(RBP3):c.924G>A (p.Pro308=) rs35746996 0.00317
NM_000554.6(CRX):c.*2396C>T rs374128749 0.00312
NM_005148.4(UNC119):c.*362C>G rs73278545 0.00312
NM_000126.4(ETFA):c.562+11A>T rs143834701 0.00311
NM_000019.4(ACAT1):c.1068T>C (p.Phe356=) rs139657823 0.00308
NM_006915.3(RP2):c.601A>G (p.Ile201Val) rs149503319 0.00307
NM_014014.5(SNRNP200):c.-58C>G rs6721923 0.00303
NM_000187.4(HGD):c.711C>A (p.Arg237=) rs147204182 0.00302
NM_005518.4(HMGCS2):c.-11C>T rs2289459 0.00299
NM_006445.4(PRPF8):c.2493C>G (p.Ser831=) rs146749363 0.00299
NM_000709.4(BCKDHA):c.484+5G>A rs149899007 0.00298
NM_001698.3(AUH):c.*200A>G rs113687423 0.00297
NM_020686.6(ABAT):c.*32G>A rs737696 0.00296
NM_012469.4(PRPF6):c.615+11A>G rs6011250 0.00286
NM_000717.5(CA4):c.-47C>G rs367981628 0.00279
NM_000170.3(GLDC):c.2053-5C>G rs140877566 0.00278
NM_000322.5(PRPH2):c.*509G>A rs56194662 0.00277
NM_006343.3(MERTK):c.2593C>T (p.Arg865Trp) rs2230516 0.00274
NM_004937.3(CTNS):c.*1117G>A rs78833685 0.00271
NM_001609.4(ACADSB):c.92A>G (p.His31Arg) rs57321698 0.00270
NM_002900.3(RBP3):c.2650G>A (p.Val884Met) rs11204213 0.00269
NM_014014.5(SNRNP200):c.5418C>T (p.Asp1806=) rs72937669 0.00267
NM_004172.5(SLC1A3):c.195A>T (p.Gly65=) rs148896855 0.00266
NM_006445.4(PRPF8):c.435-6T>G rs75026252 0.00262
NM_000161.3(GCH1):c.*93G>A rs41298438 0.00249
NM_004172.5(SLC1A3):c.*95G>A rs143096871 0.00248
NM_000019.4(ACAT1):c.-28T>A rs36216231 0.00247
NM_000322.5(PRPH2):c.*1524G>C rs183409467 0.00247
NM_005518.4(HMGCS2):c.*12A>C rs182407677 0.00238
NM_000017.4(ACADS):c.423G>A (p.Thr141=) rs2239686 0.00237
NM_000329.3(RPE65):c.881A>C (p.Lys294Thr) rs61752901 0.00232
NM_000554.6(CRX):c.*1063C>T rs143939023 0.00231
NM_000554.6(CRX):c.196G>A (p.Val66Ile) rs61748438 0.00231
NM_005518.4(HMGCS2):c.1419G>A (p.Lys473=) rs142776952 0.00228
NM_014249.4(NR2E3):c.333G>A (p.Ala111=) rs900546 0.00228
NM_004170.6(SLC1A1):c.582+6A>G rs76311603 0.00222
NM_000116.5(TAFAZZIN):c.646+14C>T rs191527230 0.00206
NM_020686.6(ABAT):c.*204A>G rs141010230 0.00205
NM_000071.3(CBS):c.939G>A (p.Thr313=) rs2228298 0.00204
NM_001609.4(ACADSB):c.*358T>C rs184796725 0.00198
NM_005148.4(UNC119):c.220+15G>C rs200265148 0.00198
NM_000322.5(PRPH2):c.*1687C>T rs139177846 0.00186
NM_000532.5(PCCB):c.184-12G>T rs181283691 0.00185
NM_001081.4(CUBN):c.7706-4T>C rs374979108 0.00180
NM_052845.4(MMAB):c.185C>T (p.Thr62Met) rs115802744 0.00177
NM_000554.6(CRX):c.*595C>T rs111448395 0.00176
NM_000182.5(HADHA):c.2060T>C (p.Met687Thr) rs149632783 0.00173
NM_020686.6(ABAT):c.*2744G>C rs192892941 0.00171
NM_022367.4(SEMA4A):c.1529G>A (p.Arg510Gln) rs2075164 0.00170
NM_004577.4(PSPH):c.126C>T (p.Asp42=) rs75497420 0.00168
NM_003060.4(SLC22A5):c.-234C>G rs4646300 0.00165
NM_000532.5(PCCB):c.1490C>T (p.Ala497Val) rs142403318 0.00162
NM_001081.4(CUBN):c.910G>A (p.Glu304Lys) rs78201384 0.00159
NM_000554.6(CRX):c.*2039C>T rs189556251 0.00156
NM_006623.4(PHGDH):c.624T>C (p.Pro208=) rs77401816 0.00154
NM_206933.4(USH2A):c.3364T>G (p.Ser1122Ala) rs148135241 0.00152
NM_000161.3(GCH1):c.*736A>G rs150176097 0.00151
NM_000717.5(CA4):c.869C>T (p.Pro290Leu) rs146141867 0.00150
NM_001081.4(CUBN):c.6938A>T (p.Tyr2313Phe) rs140806389 0.00150
NM_001918.5(DBT):c.*594A>G rs147781191 0.00150
NM_001080.3(ALDH5A1):c.886G>A (p.Ala296Thr) rs149482918 0.00146
NM_022132.5(MCCC2):c.*1466T>C rs148015309 0.00143
NM_002150.3(HPD):c.498G>A (p.Met166Ile) rs149081239 0.00141
NM_014252.4(SLC25A15):c.*420T>G rs75842883 0.00141
NM_001029883.3(PCARE):c.2875G>A (p.Ala959Thr) rs192350796 0.00140
NM_014252.4(SLC25A15):c.*159C>G rs9577153 0.00139
NM_000137.4(FAH):c.1098G>A (p.Ser366=) rs35033541 0.00137
NM_005802.5(TOPORS):c.1730C>A (p.Ser577Tyr) rs79708790 0.00137
NM_022367.4(SEMA4A):c.2249A>T (p.Asp750Val) rs141707567 0.00137
NM_203288.2(RP9):c.463G>A (p.Val155Ile) rs58377403 0.00136
NM_000137.4(FAH):c.921A>G (p.Gly307=) rs76338717 0.00135
NM_002860.4(ALDH18A1):c.1329C>T (p.Ile443=) rs117709404 0.00134
NM_000156.6(GAMT):c.348G>A (p.Leu116=) rs117884619 0.00133
NM_000554.6(CRX):c.*996C>G rs550939154 0.00129
NM_002860.4(ALDH18A1):c.*227A>G rs943341 0.00129
NM_022367.4(SEMA4A):c.1682G>A (p.Arg561His) rs146011929 0.00128
NM_001609.4(ACADSB):c.1014C>T (p.His338=) rs57339164 0.00125
NM_016247.4(IMPG2):c.*2917G>A rs117574754 0.00125
NM_014049.5(ACAD9):c.988A>C (p.Lys330Gln) rs79530903 0.00107
NM_004453.4(ETFDH):c.1812G>A (p.Val604=) rs17843967 0.00103
NM_000709.4(BCKDHA):c.840C>T (p.Arg280=) rs61737367 0.00101
NM_004172.5(SLC1A3):c.*231G>A rs180855098 0.00099
NM_001354768.3(NRL):c.375C>G (p.His125Gln) rs201970559 0.00096
NM_000116.5(TAFAZZIN):c.*560G>A rs782808430 0.00094
NM_000159.4(GCDH):c.1011A>G (p.Ala337=) rs2229460 0.00093
NM_018368.4(LMBRD1):c.981-11A>T rs75847296 0.00092
NM_000531.6(OTC):c.-48G>T rs182454762 0.00090
NM_000161.3(GCH1):c.*1044G>A rs143961472 0.00088
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu) rs118169528 0.00088
NM_006269.2(RP1):c.5377C>T (p.Pro1793Ser) rs143088423 0.00086
NM_004172.5(SLC1A3):c.*1727A>G rs2269273 0.00085
NM_000709.4(BCKDHA):c.376-4C>T rs199725420 0.00084
NM_005148.4(UNC119):c.267C>G (p.Val89=) rs145710399 0.00084
NM_000554.6(CRX):c.*19C>T rs79186398 0.00083
NM_005802.5(TOPORS):c.2988C>T (p.Leu996=) rs3814518 0.00083
NM_014249.4(NR2E3):c.900G>A (p.Thr300=) rs184906734 0.00083
NM_000322.5(PRPH2):c.*1372C>A rs56385342 0.00080
NM_012463.4(ATP6V0A2):c.1590C>T (p.Pro530=) rs80355657 0.00078
NM_000717.5(CA4):c.531C>A (p.Asn177Lys) rs185942554 0.00077
NM_002098.6(GUCA1B):c.-60A>G rs145820031 0.00077
NM_000322.5(PRPH2):c.*152G>A rs113384495 0.00073
NM_005802.5(TOPORS):c.1722G>A (p.Leu574=) rs12236253 0.00073
NM_020686.6(ABAT):c.*2986T>C rs79763179 0.00071
NM_004172.5(SLC1A3):c.*465C>T rs186288512 0.00069
NM_000071.3(CBS):c.636C>T (p.Asn212=) rs2298758 0.00068
NM_004172.5(SLC1A3):c.1074C>T (p.Thr358=) rs147973032 0.00068
NM_001609.4(ACADSB):c.*206A>C rs138299400 0.00066
NM_006915.3(RP2):c.*2156A>G rs141748740 0.00066
NM_012469.4(PRPF6):c.2546+15C>T rs200759872 0.00066
NM_001918.5(DBT):c.*4506A>G rs112901689 0.00064
NM_012463.4(ATP6V0A2):c.*1122A>G rs3827881 0.00064
NM_004172.5(SLC1A3):c.320-7C>T rs200867287 0.00063
NM_014249.4(NR2E3):c.904G>A (p.Val302Ile) rs1805025 0.00063
NM_002225.5(IVD):c.*2070C>T rs187887699 0.00062
NM_004172.5(SLC1A3):c.15T>C (p.Asn5=) rs143791614 0.00061
NM_012213.3(MLYCD):c.541G>A (p.Val181Met) rs147617160 0.00061
NM_000170.3(GLDC):c.936C>T (p.Ile312=) rs79057118 0.00058
NM_000554.6(CRX):c.*1684G>A rs141564522 0.00058
NM_004172.5(SLC1A3):c.1154G>A (p.Arg385His) rs115702388 0.00058
NM_000161.3(GCH1):c.*12T>C rs190993883 0.00057
NM_000322.5(PRPH2):c.249C>T (p.Tyr83=) rs61755775 0.00053
NM_005148.4(UNC119):c.502C>T (p.Arg168Cys) rs146916036 0.00053
NM_006915.3(RP2):c.*904A>G rs144870840 0.00052
NM_000170.3(GLDC):c.470+11T>C rs142534180 0.00051
NM_000440.3(PDE6A):c.177A>G (p.Glu59=) rs146550067 0.00050
NM_000883.4(IMPDH1):c.1405+9A>G rs11562030 0.00050
NM_000322.5(PRPH2):c.909C>T (p.Ser303=) rs144111167 0.00049
NM_000327.4(ROM1):c.342C>T (p.Leu114=) rs537377404 0.00049
NM_002150.3(HPD):c.294C>T (p.Phe98=) rs117079110 0.00048
NM_058179.4(PSAT1):c.1059C>T (p.Asp353=) rs115639310 0.00047
NM_000387.6(SLC25A20):c.*357C>T rs78776342 0.00046
NM_004172.5(SLC1A3):c.1094+12T>C rs141636019 0.00045
NM_000191.3(HMGCL):c.443A>G (p.Gln148Arg) rs192833530 0.00043
NM_001081.4(CUBN):c.8139C>A (p.Thr2713=) rs147742103 0.00043
NM_014014.5(SNRNP200):c.2800A>G (p.Thr934Ala) rs149616320 0.00042
NM_002150.3(HPD):c.895C>T (p.Leu299=) rs144544907 0.00041
NM_005148.4(UNC119):c.*140A>G rs568283544 0.00041
NM_012469.4(PRPF6):c.42C>T (p.Pro14=) rs186249212 0.00041
NM_152443.3(RDH12):c.570C>T (p.Ser190=) rs79869437 0.00041
NM_000045.4(ARG1):c.57G>A (p.Gln19=) rs150766204 0.00039
NM_002150.3(HPD):c.954+14A>C rs200866898 0.00039
NM_005148.4(UNC119):c.*226C>T rs80000715 0.00039
NM_005148.4(UNC119):c.663C>T (p.Phe221=) rs139354163 0.00038
NM_005589.4(ALDH6A1):c.1604G>A (p.Arg535His) rs183066442 0.00038
NM_022367.4(SEMA4A):c.84G>A (p.Thr28=) rs149711133 0.00038
NM_002098.6(GUCA1B):c.87G>A (p.Val29=) rs149820788 0.00036
NM_004698.4(PRPF3):c.1032A>G (p.Thr344=) rs143350315 0.00036
NM_201253.3(CRB1):c.161G>T (p.Cys54Phe) rs140428156 0.00036
NM_000018.4(ACADVL):c.68G>A (p.Arg23Gln) rs34153370 0.00034
NM_001081.4(CUBN):c.8671G>A (p.Val2891Ile) rs150488625 0.00034
NM_006445.4(PRPF8):c.2601C>T (p.Ile867=) rs117892584 0.00034
NM_006445.4(PRPF8):c.5412C>T (p.Asn1804=) rs151214963 0.00034
NM_000554.6(CRX):c.425A>G (p.Tyr142Cys) rs61748442 0.00032
NM_012469.4(PRPF6):c.1524+10A>G rs201704766 0.00032
NM_022367.4(SEMA4A):c.2167C>T (p.Arg723Cys) rs199933282 0.00032
NM_000161.3(GCH1):c.*1130C>G rs543818323 0.00031
NM_000554.6(CRX):c.*117T>A rs574641672 0.00030
NM_000554.6(CRX):c.*118C>A rs543729483 0.00030
NM_000554.6(CRX):c.*527C>T rs371749408 0.00030
NM_004172.5(SLC1A3):c.945C>T (p.Ala315=) rs117295512 0.00030
NM_020686.6(ABAT):c.684G>A (p.Thr228=) rs148143485 0.00030
NM_000045.4(ARG1):c.594T>C (p.Phe198=) rs149496218 0.00029
NM_000161.3(GCH1):c.507G>A (p.Ala169=) rs150158277 0.00029
NM_001354768.3(NRL):c.*667C>T rs555110362 0.00028
NM_006269.2(RP1):c.*71C>T rs185876566 0.00028
NM_000187.4(HGD):c.221A>T (p.Glu74Val) rs141965690 0.00027
NM_004172.5(SLC1A3):c.231A>G (p.Glu77=) rs141828644 0.00023
NM_005148.4(UNC119):c.*83G>C rs566810319 0.00022
NM_001875.5(CPS1):c.4404+4T>A rs199739254 0.00020
NM_005327.7(HADH):c.*514A>G rs183594888 0.00020
NM_005518.4(HMGCS2):c.1124C>G (p.Ser375Cys) rs151328418 0.00020
NM_000322.5(PRPH2):c.37C>T (p.Arg13Trp) rs61754402 0.00018
NM_000531.6(OTC):c.582C>T (p.Ile194=) rs200564773 0.00018
NM_001609.4(ACADSB):c.*3736G>T rs80159677 0.00018
NM_005148.4(UNC119):c.234C>T (p.Ser78=) rs147732652 0.00018
NM_000531.6(OTC):c.*106G>A rs766318571 0.00017
NM_000709.4(BCKDHA):c.1211A>G (p.Asn404Ser) rs148090804 0.00016
NM_004172.5(SLC1A3):c.1425-8G>C rs202233020 0.00016
NM_004172.5(SLC1A3):c.676C>G (p.Arg226Gly) rs201069745 0.00016
NM_000161.3(GCH1):c.*256A>G rs181674470 0.00014
NM_000883.4(IMPDH1):c.930C>T (p.Thr310=) rs150531977 0.00013
NM_004172.5(SLC1A3):c.985G>A (p.Ala329Thr) rs200243548 0.00013
NM_005327.7(HADH):c.133-15C>T rs190144364 0.00013
NM_022367.4(SEMA4A):c.1694-13C>G rs144540956 0.00013
NM_000554.6(CRX):c.*2602C>T rs562310108 0.00012
NM_005148.4(UNC119):c.437+7C>T rs200659406 0.00012
NM_000317.3(PTS):c.372A>T (p.Val124=) rs139969809 0.00011
NM_000327.4(ROM1):c.724C>T (p.Arg242Ter) rs147065010 0.00011
NM_001354768.3(NRL):c.*173A>T rs540751400 0.00011
NM_206933.4(USH2A):c.2633G>A (p.Arg878His) rs200124505 0.00011
NM_000554.6(CRX):c.*1671G>A rs550538685 0.00010
NM_001080.3(ALDH5A1):c.1479C>T (p.Asn493=) rs200661931 0.00010
NM_001201543.2(FAM161A):c.1959G>T (p.Glu653Asp) rs201052209 0.00010
NM_000137.4(FAH):c.1209C>T (p.Ile403=) rs111345782 0.00009
NM_001394090.1(CFAP92):c.3281-2300G>A rs373417322 0.00009
NM_004172.5(SLC1A3):c.1342C>T (p.Leu448=) rs201618221 0.00009
NM_005802.5(TOPORS):c.2344A>G (p.Thr782Ala) rs746320974 0.00009
NM_012213.3(MLYCD):c.*254C>G rs375604861 0.00009
NM_004937.3(CTNS):c.356G>A (p.Arg119His) rs375970075 0.00008
NM_006269.2(RP1):c.3999C>T (p.Tyr1333=) rs146602041 0.00008
NM_006269.2(RP1):c.5797C>T (p.Arg1933Ter) rs118031911 0.00008
NM_183050.4(BCKDHB):c.*763G>A rs563470467 0.00008
NM_004172.5(SLC1A3):c.650T>C (p.Val217Ala) rs772789166 0.00007
NM_004172.5(SLC1A3):c.79C>T (p.Leu27Phe) rs146939026 0.00007
NM_006269.2(RP1):c.4131C>T (p.Asp1377=) rs538825686 0.00007
NM_000161.3(GCH1):c.*1010C>T rs764569623 0.00006
NM_000161.3(GCH1):c.582G>A (p.Thr194=) rs199836777 0.00006
NM_000170.3(GLDC):c.2920-8C>T rs138786708 0.00006
NM_000322.5(PRPH2):c.44A>G (p.Lys15Arg) rs555112175 0.00006
NM_000554.6(CRX):c.*1917G>A rs557773336 0.00006
NM_000554.6(CRX):c.*2539C>T rs146417527 0.00006
NM_000554.6(CRX):c.-39G>C rs531267959 0.00006
NM_000554.6(CRX):c.551C>T (p.Pro184Leu) rs147558800 0.00006
NM_004172.5(SLC1A3):c.*1028A>G rs139308938 0.00006
NM_005148.4(UNC119):c.-66T>G rs568917704 0.00006
NM_000170.3(GLDC):c.1508A>C (p.Glu503Ala) rs201890453 0.00005
NM_001875.5(CPS1):c.*658A>G rs559191307 0.00005
NM_002150.3(HPD):c.836G>A (p.Arg279His) rs140144597 0.00005
NM_006269.2(RP1):c.4735T>G (p.Leu1579Val) rs200860068 0.00005
NM_015629.4(PRPF31):c.138T>C (p.Asp46=) rs76251057 0.00005
NM_018368.4(LMBRD1):c.-117C>T rs550933505 0.00005
NM_000322.5(PRPH2):c.*1121A>C rs187919973 0.00004
NM_000360.4(TH):c.313-9C>T rs538345855 0.00004
NM_000709.4(BCKDHA):c.*68G>A rs375492462 0.00004
NM_012213.3(MLYCD):c.1203G>A (p.Leu401=) rs200341673 0.00004
NM_000116.5(TAFAZZIN):c.761C>T (p.Ala254Val) rs200909606 0.00003
NM_000161.3(GCH1):c.509+8T>A rs753570450 0.00003
NM_000360.4(TH):c.66C>T (p.Asp22=) rs377073512 0.00003
NM_000554.6(CRX):c.460A>G (p.Thr154Ala) rs763651232 0.00003
NM_001081.4(CUBN):c.8921C>T (p.Thr2974Met) rs374477671 0.00003
NM_001609.4(ACADSB):c.1128+3A>T rs760423996 0.00003
NM_005148.4(UNC119):c.281G>A (p.Arg94Gln) rs763481567 0.00003
NM_005148.4(UNC119):c.356G>A (p.Arg119Gln) rs200211619 0.00003
NM_000554.6(CRX):c.*366C>T rs560185740 0.00002
NM_002150.3(HPD):c.93+9C>T rs542121054 0.00002
NM_004172.5(SLC1A3):c.*695G>C rs569386185 0.00002
NM_000048.4(ASL):c.1388A>G (p.Gln463Arg) rs200363489 0.00001
NM_000353.3(TAT):c.133C>T (p.Pro45Ser) rs575372249 0.00001
NM_000709.4(BCKDHA):c.*17C>T rs372125840 0.00001
NM_001029883.3(PCARE):c.1882G>A (p.Ala628Thr) rs571059484 0.00001
NM_002150.3(HPD):c.765T>C (p.Tyr255=) rs767720774 0.00001
NM_004172.5(SLC1A3):c.*636G>A rs182529342 0.00001
NM_004698.4(PRPF3):c.*154G>A rs368160043 0.00001
NM_005802.5(TOPORS):c.*9A>G rs201576667 0.00001
NM_012213.3(MLYCD):c.*27C>T rs565054759 0.00001
NM_014014.5(SNRNP200):c.*257C>G rs560814451 0.00001
NM_015629.4(PRPF31):c.*46G>A rs368621219 0.00001
NM_022367.4(SEMA4A):c.492C>T (p.Ile164=) rs562037528 0.00001
NM_000019.3(ACAT1):c.*777_*780delAATT rs112801981
NM_000019.4(ACAT1):c.-22C>G rs3741054
NM_000019.4(ACAT1):c.436-4G>A rs3741050
NM_000026.4(ADSL):c.216C>T (p.Ile72=) rs145786986
NM_000071.3(CBS):c.*10C>A rs9978104
NM_000071.3(CBS):c.*681A>G rs111413325
NM_000071.3(CBS):c.*98CTGGC[1] rs71872941
NM_000108.5(DLD):c.*470G>T rs111619940
NM_000108.5(DLD):c.*947G>T rs7777259
NM_000116.5(TAFAZZIN):c.*470= rs743547
NM_000116.5(TAZ):c.-119=
NM_000137.4(FAH):c.554-15C>T rs774367598
NM_000161.3(GCH1):c.*1122A>T rs56126158
NM_000161.3(GCH1):c.*1176C>G rs113211390
NM_000161.3(GCH1):c.*677G>A rs10136966
NM_000161.3(GCH1):c.*727A>G rs138578359
NM_000161.3(GCH1):c.*830A>T rs542811477
NM_000161.3(GCH1):c.*883CTT[3] rs145762799
NM_000161.3(GCH1):c.626+9G>T rs374007793
NM_000170.3(GLDC):c.*410G>C rs35834773
NM_000170.3(GLDC):c.2316-6dup rs3215923
NM_000182.5(HADHA):c.*202G>A rs7260
NM_000187.4(HGD):c.343-11G>A rs143223637
NM_000274.4(OAT):c.-59G>C rs144950523
NM_000320.3(QDPR):c.*682A>G rs699459
NM_000322.5(PRPH2):c.*797G>A rs188694434
NM_000322.5(PRPH2):c.483C>T (p.Ile161=) rs76989855
NM_000341.4(SLC3A1):c.1854G>A (p.Met618Ile) rs698761
NM_000485.3(APRT):c.*178A>G rs4695
NM_000485.3(APRT):c.266G>A (p.Arg89Gln) rs150156607
NM_000539.3(RHO):c.*1099G>A rs3733148
NM_000539.3(RHO):c.*43C>A rs2071093
NM_000554.6(CRX):c.*2155G>A rs113560570
NM_000554.6(CRX):c.*2758C>A rs117717088
NM_000554.6(CRX):c.*2937T>C rs7248427
NM_000554.6(CRX):c.*591G>C rs3859430
NM_000687.4(AHCY):c.*301T>G rs13245
NM_000709.4(BCKDHA):c.114C>G (p.Pro38=) rs11549935
NM_000709.4(BCKDHA):c.114C>T (p.Pro38=) rs11549935
NM_000709.4(BCKDHA):c.648G>T (p.Ala216=) rs114716391
NM_001029883.3(PCARE):c.*2629G>A rs116529628
NM_001029883.3(PCARE):c.1387G>T (p.Val463Phe) rs199764925
NM_001080.3(ALDH5A1):c.*1294C>T rs114422378
NM_001080.3(ALDH5A1):c.*1392C>A rs116311769
NM_001081.4(CUBN):c.10656C>A (p.Asn3552Lys) rs1801232
NM_001081.4(CUBN):c.10656C>T (p.Asn3552=) rs1801232
NM_001081.4(CUBN):c.1911C>T (p.Leu637=) rs41289311
NM_001081.4(CUBN):c.5305G>A (p.Val1769Ile) rs74116778
NM_001081.4(CUBN):c.5911C>A (p.Pro1971Thr) rs2356590
NM_001081.4(CUBN):c.7346T>C (p.Met2449Thr) rs41301097
NM_001142800.2(EYS):c.359C>T (p.Thr120Met) rs12193967
NM_001297.5(CNGB1):c.257G>A (p.Arg86Gln) rs8055343
NM_001297.5(CNGB1):c.2664C>A (p.Ala888=) rs413562
NM_001297.5(CNGB1):c.2664C>G (p.Ala888=) rs413562
NM_001297.5(CNGB1):c.2881G>T (p.Ala961Ser) rs16942445
NM_001297.5(CNGB1):c.299G>A (p.Arg100His) rs13336595
NM_001352514.2(HLCS):c.*1206C>A rs73902720
NM_001352514.2(HLCS):c.*2622G>A rs14407
NM_001482.3(GATM):c.*125G>A rs143689218
NM_001482.3(GATM):c.*595C>A rs75565512
NM_001482.3(GATM):c.*734_*735insCA rs35410548
NM_001609.3(ACADSB):c.-107G>A rs190149746
NM_001609.4(ACADSB):c.*133C>G rs58589087
NM_001609.4(ACADSB):c.*2957T>A rs115456304
NM_001875.5(CPS1):c.-4_-3insTTC rs61509952
NM_001875.5(CPS1):c.1030A>G (p.Thr344Ala) rs1047883
NM_001875.5(CPS1):c.1030A>T (p.Thr344Ser) rs1047883
NM_001875.5(CPS1):c.2265C>A (p.Ser755=) rs41272667
NM_001875.5(CPS1):c.3481-7G>A rs368909569
NM_002108.4(HAL):c.*1312C>T rs1059845
NM_002150.3(HPD):c.543C>T (p.Ile181=) rs756242095
NM_002225.5(IVD):c.*1890G>C rs12185076
NM_002225.5(IVD):c.*1893del rs398026948
NM_002225.5(IVD):c.*3036del rs5812161
NM_002225.5(IVD):c.*825C>A rs7182052
NM_002900.3(RBP3):c.837G>A (p.Thr279=) rs2376635
NM_003060.4(SLC22A5):c.*92del rs142209594
NM_003060.4(SLC22A5):c.652+6= rs4551059
NM_004170.6(SLC1A1):c.*657AT[9] rs3038452
NM_004172.4(SLC1A3):c.*2075A>G rs554455160
NM_004172.5(SLC1A3):c.954C>T (p.Thr318=) rs528899789
NM_004577.4(PSPH):c.-19-4G>A rs200942360
NM_004577.4(PSPH):c.117C>T (p.Gly39=) rs199851385
NM_004577.4(PSPH):c.120T>A (p.Val40=) rs202027697
NM_004577.4(PSPH):c.189A>G (p.Thr63=) rs201935398
NM_004577.4(PSPH):c.194G>A (p.Arg65His) rs200442078
NM_004577.4(PSPH):c.203T>C (p.Leu68Pro) rs78067484
NM_004577.4(PSPH):c.204C>A (p.Leu68=) rs201644817
NM_004577.4(PSPH):c.81A>T (p.Arg27Ser) rs74445297
NM_004577.4(PSPH):c.95A>G (p.Asp32Gly) rs78599516
NM_004937.3(CTNS):c.*1128G>A rs115643745
NM_004937.3(CTNS):c.*1957del rs397856854
NM_005518.4(HMGCS2):c.*792G>A rs41313276
NM_005589.4(ALDH6A1):c.*1016G>A rs139735554
NM_005589.4(ALDH6A1):c.*403T>C rs1135885
NM_005589.4(ALDH6A1):c.*403T>G rs1135885
NM_005802.5(TOPORS):c.576G>T (p.Val192=) rs116721635
NM_005802.5(TOPORS):c.74C>G (p.Ser25Trp) rs61758066
NM_006269.2(RP1):c.6098G>A (p.Cys2033Tyr) rs61739567
NM_006343.3(MERTK):c.2080-11C>A rs3811640
NM_006445.4(PRPF8):c.-79C>T rs74635192
NM_006445.4(PRPF8):c.6854-4G>A rs75996323
NM_006623.3(PHGDH):c.-101G>C rs562038
NM_006915.3(RP2):c.*1908G>A rs782216739
NM_012213.3(MLYCD):c.*671C>T rs74830340
NM_012463.4(ATP6V0A2):c.*2353G>T rs74386589
NM_012463.4(ATP6V0A2):c.*3167G>A rs112529654
NM_014014.5(SNRNP200):c.5983G>A (p.Ala1995Thr) rs201691299
NM_014014.5(SNRNP200):c.723G>A (p.Ser241=) rs2276647
NM_014014.5(SNRNP200):c.732C>T (p.Leu244=) rs199688602
NM_014049.5(ACAD9):c.-65GT[4] rs397874507
NM_014049.5(ACAD9):c.976G>C (p.Ala326Pro) rs115532916
NM_015629.4(PRPF31):c.1147-9= rs655240
NM_020686.6(ABAT):c.*1133G>A rs77110218
NM_020686.6(ABAT):c.*1593T>A rs1061842
NM_020686.6(ABAT):c.*165A>T rs55638039
NM_020686.6(ABAT):c.*242G>T rs2270288
NM_020686.6(ABAT):c.540+14CA[12] rs35745596
NM_024407.5(NDUFS7):c.*13C>A rs11551663
NM_025136.4(OPA3):c.*1294dup rs74313320
NM_025136.4(OPA3):c.*3111AGC[3] rs542311224
NM_025136.4(OPA3):c.*4132CCCTG[3] rs68079762
NM_025136.4(OPA3):c.*4696ATAA[8] rs58537694
NM_025136.4(OPA3):c.*4850_*4852del rs144752998
NM_025136.4(OPA3):c.*4857A>T rs4803833
NM_025136.4(OPA3):c.*986del rs377547137
NM_177965.4(CFAP418):c.*1811A>G rs114732021
NM_183050.4(BCKDHB):c.*559_*560del rs10579475

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