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
|
|