NM_000116.5(TAFAZZIN):c.110-17=
|
rs62617809
|
0.99999
|
NM_022132.5(MCCC2):c.*1243G>C
|
rs7731970
|
0.80030
|
NM_001918.5(DBT):c.*6902T>A
|
rs200943386
|
0.79813
|
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val)
|
rs1801133
|
0.27446
|
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr)
|
rs1042602
|
0.24593
|
NM_004937.3(CTNS):c.*1053T>G
|
rs1048677
|
0.18814
|
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln)
|
rs1126809
|
0.18094
|
NM_016335.6(PRODH):c.1292G>A (p.Arg431His)
|
rs2904552
|
0.06735
|
NM_006343.3(MERTK):c.60A>T (p.Arg20Ser)
|
rs35898499
|
0.03355
|
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)
|
rs13078881
|
0.03225
|
NM_022367.4(SEMA4A):c.2138G>A (p.Arg713Gln)
|
rs41265017
|
0.03176
|
NM_000531.6(OTC):c.809A>G (p.Gln270Arg)
|
rs1800328
|
0.02868
|
NM_014049.5(ACAD9):c.976G>A (p.Ala326Thr)
|
rs115532916
|
0.02662
|
NM_016247.4(IMPG2):c.3439C>T (p.Pro1147Ser)
|
rs111784356
|
0.02010
|
NM_000440.3(PDE6A):c.*2400G>A
|
rs74771814
|
0.01987
|
NM_004744.5(LRAT):c.*2625A>G
|
rs77071498
|
0.01933
|
NM_003748.4(ALDH4A1):c.1583C>A (p.Thr528Asn)
|
rs61757683
|
0.01760
|
NM_201548.5(CERKL):c.*1324G>A
|
rs11553355
|
0.01741
|
NM_201548.5(CERKL):c.*1045G>A
|
rs78381893
|
0.01727
|
NM_177965.4(CFAP418):c.450G>A (p.Ser150=)
|
rs35141355
|
0.01707
|
NM_177965.4(CFAP418):c.*2330C>T
|
rs150859301
|
0.01689
|
NM_177965.4(CFAP418):c.*791G>T
|
rs140209136
|
0.01687
|
NM_201548.5(CERKL):c.*1044C>T
|
rs16867441
|
0.01678
|
NM_000440.3(PDE6A):c.1963C>T (p.His655Tyr)
|
rs78775072
|
0.01647
|
NM_003748.4(ALDH4A1):c.*272C>T
|
rs41273171
|
0.01547
|
NM_018418.5(SPATA7):c.1255T>C (p.Leu419=)
|
rs112976233
|
0.01543
|
NM_001297.5(CNGB1):c.*281T>C
|
rs116564376
|
0.01516
|
NM_177965.4(CFAP418):c.*2166T>G
|
rs149998549
|
0.01510
|
NM_000554.6(CRX):c.*436G>T
|
rs759530877
|
0.01473
|
NM_001379270.1(CNGA1):c.300A>G (p.Glu100=)
|
rs76061451
|
0.01445
|
NM_014270.5(SLC7A9):c.972G>A (p.Ala324=)
|
rs61730903
|
0.01386
|
NM_206933.4(USH2A):c.1434G>C (p.Glu478Asp)
|
rs35730265
|
0.01315
|
NM_001029883.3(PCARE):c.3291G>A (p.Gln1097=)
|
rs183536545
|
0.01287
|
NM_001875.5(CPS1):c.4126G>A (p.Gly1376Ser)
|
rs140578009
|
0.01275
|
NM_001142800.2(EYS):c.-459C>T
|
rs144371265
|
0.01261
|
NM_000283.4(PDE6B):c.2526C>T (p.Gly842=)
|
rs61733857
|
0.01240
|
NM_001379270.1(CNGA1):c.83G>A (p.Arg28Gln)
|
rs76537883
|
0.01212
|
NM_025184.4(EFHC2):c.170G>A (p.Cys57Tyr)
|
rs61636783
|
0.01205
|
NM_014049.4(ACAD9):c.-168T>C
|
rs183973851
|
0.01194
|
NM_206933.4(USH2A):c.688G>A (p.Val230Met)
|
rs45500891
|
0.01191
|
NM_201548.5(CERKL):c.*295G>A
|
rs148226735
|
0.01161
|
NM_001330260.2(SCN8A):c.3076C>T (p.Arg1026Cys)
|
rs117217073
|
0.01112
|
NM_144596.4(TTC8):c.*57C>T
|
rs74079414
|
0.01106
|
NM_002032.3(FTH1):c.*389A>G
|
rs1801327
|
0.01102
|
NM_025136.4(OPA3):c.*1836C>T
|
rs74717111
|
0.01070
|
NM_001201543.2(FAM161A):c.*1549G>T
|
rs7563900
|
0.01065
|
NM_144631.6(ZNF513):c.1224C>T (p.Arg408=)
|
rs61995753
|
0.01045
|
NM_006343.3(MERTK):c.878G>A (p.Arg293His)
|
rs34072093
|
0.01044
|
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg)
|
rs34885143
|
0.01036
|
NM_001029883.3(PCARE):c.*1050C>T
|
rs36112528
|
0.01034
|
NM_201548.5(CERKL):c.*330C>T
|
rs115260661
|
0.00998
|
NM_058179.4(PSAT1):c.*836A>G
|
rs41277905
|
0.00996
|
NM_001201543.2(FAM161A):c.*1100T>C
|
rs78512710
|
0.00922
|
NM_000018.4(ACADVL):c.1600G>A (p.Glu534Lys)
|
rs2230180
|
0.00920
|
NM_003748.4(ALDH4A1):c.*1040C>T
|
rs76525996
|
0.00915
|
NM_000283.4(PDE6B):c.496G>A (p.Glu166Lys)
|
rs115775983
|
0.00911
|
NM_001029883.3(PCARE):c.740T>C (p.Val247Ala)
|
rs77828062
|
0.00896
|
NM_004744.5(LRAT):c.*1155T>A
|
rs72683214
|
0.00883
|
NM_016247.4(IMPG2):c.*426G>A
|
rs151199078
|
0.00866
|
NM_002900.3(RBP3):c.2077G>A (p.Val693Met)
|
rs112888313
|
0.00857
|
NM_012463.4(ATP6V0A2):c.*2875A>C
|
rs149741581
|
0.00851
|
NM_000687.4(AHCY):c.-34C>T
|
rs57344541
|
0.00825
|
NM_172250.3(MMAA):c.*600G>A
|
rs112882351
|
0.00820
|
NM_001902.6(CTH):c.647-15G>C
|
rs140590694
|
0.00811
|
NM_144596.4(TTC8):c.625-5C>T
|
rs137853922
|
0.00807
|
NM_001297.5(CNGB1):c.1382C>T (p.Thr461Met)
|
rs147593839
|
0.00806
|
NM_002900.3(RBP3):c.1037G>A (p.Arg346His)
|
rs111245635
|
0.00786
|
NM_001918.5(DBT):c.*6901T>A
|
rs200062717
|
0.00778
|
NM_206933.4(USH2A):c.6240G>T (p.Lys2080Asn)
|
rs114402911
|
0.00770
|
NM_016247.4(IMPG2):c.*2682T>C
|
rs141519900
|
0.00761
|
NM_001142800.2(EYS):c.1596A>C (p.Lys532Asn)
|
rs61753611
|
0.00740
|
NM_001297.5(CNGB1):c.*1518T>G
|
rs114514618
|
0.00733
|
NM_001297.5(CNGB1):c.*954T>C
|
rs114952307
|
0.00731
|
NM_000329.3(RPE65):c.399T>C (p.Leu133=)
|
rs59257923
|
0.00728
|
NM_003748.4(ALDH4A1):c.*1173C>T
|
rs115664776
|
0.00723
|
NM_001297.5(CNGB1):c.2700G>A (p.Thr900=)
|
rs72782250
|
0.00722
|
NM_058179.4(PSAT1):c.*664A>G
|
rs41277903
|
0.00716
|
NM_025136.4(OPA3):c.*4853T>A
|
rs886054516
|
0.00709
|
NM_000170.3(GLDC):c.319A>G (p.Met107Val)
|
rs138454333
|
0.00707
|
NM_006343.3(MERTK):c.2028C>T (p.Tyr676=)
|
rs56225811
|
0.00704
|
NM_006343.3(MERTK):c.1618G>A (p.Glu540Lys)
|
rs113485015
|
0.00703
|
NM_016335.6(PRODH):c.650G>A (p.Arg217His)
|
rs148375080
|
0.00695
|
NM_001902.6(CTH):c.200C>T (p.Thr67Ile)
|
rs28941785
|
0.00693
|
NM_001029883.3(PCARE):c.*1425C>T
|
rs114274497
|
0.00675
|
NM_001077620.3(PRCD):c.74+14C>T
|
rs200645008
|
0.00674
|
NM_000170.3(GLDC):c.52G>T (p.Gly18Cys)
|
rs535143891
|
0.00670
|
NM_001370658.1(BTD):c.585C>T (p.Leu195=)
|
rs145388314
|
0.00669
|
NM_025136.4(OPA3):c.*6767G>A
|
rs142898530
|
0.00668
|
NM_001142800.2(EYS):c.8422G>A (p.Ala2808Thr)
|
rs111991705
|
0.00667
|
NM_000440.3(PDE6A):c.1476A>C (p.Gln492His)
|
rs17711594
|
0.00665
|
NM_000274.4(OAT):c.-30+8C>T
|
rs552799531
|
0.00661
|
NM_000019.4(ACAT1):c.941-14C>T
|
rs12801620
|
0.00658
|
NM_201253.3(CRB1):c.99G>T (p.Arg33Ser)
|
rs59691602
|
0.00655
|
NM_001029883.3(PCARE):c.3058C>A (p.Gln1020Lys)
|
rs201355503
|
0.00651
|
NM_032601.4(MCEE):c.102C>G (p.Pro34=)
|
rs146573280
|
0.00646
|
NM_001201543.2(FAM161A):c.*617G>A
|
rs188862164
|
0.00644
|
NM_001201543.2(FAM161A):c.1013G>A (p.Arg338Gln)
|
rs149314387
|
0.00644
|
NM_000108.5(DLD):c.*1145A>T
|
rs143750422
|
0.00638
|
NM_000326.5(RLBP1):c.807C>T (p.His269=)
|
rs62640017
|
0.00638
|
NM_003060.4(SLC22A5):c.*959A>C
|
rs14701
|
0.00632
|
NM_000317.3(PTS):c.*60T>C
|
rs149320135
|
0.00631
|
NM_012463.4(ATP6V0A2):c.*191T>C
|
rs150408179
|
0.00628
|
NM_001029883.3(PCARE):c.*2562G>C
|
rs188247308
|
0.00625
|
NM_001142800.2(EYS):c.3345A>G (p.Glu1115=)
|
rs114282214
|
0.00622
|
NM_144631.6(ZNF513):c.1260C>T (p.Leu420=)
|
rs112828880
|
0.00620
|
NM_002900.3(RBP3):c.487T>C (p.Ser163Pro)
|
rs35686775
|
0.00618
|
NM_001077620.3(PRCD):c.*1259G>A
|
rs144852411
|
0.00616
|
NM_012463.4(ATP6V0A2):c.*3665T>G
|
rs2651
|
0.00616
|
NM_016247.4(IMPG2):c.*1542A>T
|
rs539098
|
0.00615
|
NM_001077620.3(PRCD):c.*1186G>A
|
rs568033840
|
0.00609
|
NM_006017.3(PROM1):c.1751A>G (p.His584Arg)
|
rs140027620
|
0.00608
|
NM_000282.4(PCCA):c.1651G>T (p.Val551Phe)
|
rs61749895
|
0.00606
|
NM_000440.3(PDE6A):c.*599C>T
|
rs150867395
|
0.00603
|
NM_000485.3(APRT):c.*182A>G
|
rs8191498
|
0.00599
|
NM_144631.6(ZNF513):c.878G>A (p.Arg293Gln)
|
rs61740138
|
0.00591
|
NM_004744.5(LRAT):c.-15C>T
|
rs113018020
|
0.00590
|
NM_001142800.2(EYS):c.7796A>G (p.His2599Arg)
|
rs74636274
|
0.00587
|
NM_000387.6(SLC25A20):c.*782T>C
|
rs76087816
|
0.00584
|
NM_000283.4(PDE6B):c.615C>T (p.Asp205=)
|
rs149293844
|
0.00577
|
NM_004744.5(LRAT):c.*3264G>A
|
rs115053323
|
0.00575
|
NM_001126106.4(SLC7A7):c.-234del
|
rs545840651
|
0.00572
|
NM_002900.3(RBP3):c.1809C>T (p.Gly603=)
|
rs34044042
|
0.00571
|
NM_001201543.2(FAM161A):c.817G>A (p.Glu273Lys)
|
rs6733774
|
0.00570
|
NM_006017.3(PROM1):c.1911+14G>A
|
rs79077926
|
0.00565
|
NM_052845.4(MMAB):c.*3019A>G
|
rs78065254
|
0.00564
|
NM_016247.4(IMPG2):c.*2658G>T
|
rs78391139
|
0.00550
|
NM_001875.5(CPS1):c.3029C>T (p.Thr1010Met)
|
rs79627159
|
0.00546
|
NM_000018.3(ACADVL):c.-64T>C
|
rs77051465
|
0.00545
|
NM_006343.3(MERTK):c.*439A>G
|
rs191525605
|
0.00540
|
NM_206933.4(USH2A):c.78T>C (p.Ala26=)
|
rs59139861
|
0.00539
|
NM_001201543.2(FAM161A):c.2122G>A (p.Glu708Lys)
|
rs77562614
|
0.00538
|
NM_001077620.3(PRCD):c.*1618C>T
|
rs77404579
|
0.00535
|
NM_003124.5(SPR):c.112G>A (p.Val38Ile)
|
rs146099322
|
0.00535
|
NM_000541.5(SAG):c.250C>T (p.Arg84Cys)
|
rs115857633
|
0.00530
|
NM_000541.5(SAG):c.231C>T (p.Asp77=)
|
rs79922016
|
0.00524
|
NM_206933.4(USH2A):c.4627+641G>A
|
rs146153666
|
0.00523
|
NM_000440.3(PDE6A):c.*178T>C
|
rs113302481
|
0.00521
|
NM_006017.3(PROM1):c.1683-3C>T
|
rs143470288
|
0.00518
|
NM_025136.4(OPA3):c.*6442A>G
|
rs76825983
|
0.00518
|
NM_000666.3(ACY1):c.1156C>T (p.Arg386Cys)
|
rs2229152
|
0.00516
|
NM_003748.4(ALDH4A1):c.678+3G>A
|
rs138788183
|
0.00516
|
NM_018418.5(SPATA7):c.-95C>T
|
rs114796215
|
0.00515
|
NM_001029883.3(PCARE):c.*2649C>T
|
rs74992908
|
0.00513
|
NM_001297.5(CNGB1):c.1500C>T (p.Thr500=)
|
rs75406397
|
0.00513
|
NM_014249.4(NR2E3):c.*558C>A
|
rs886051459
|
0.00506
|
NM_000885.6(ITGA4):c.*2381C>A
|
rs72883650
|
0.00503
|
NM_002225.5(IVD):c.*2630G>A
|
rs28654574
|
0.00497
|
NM_000329.3(RPE65):c.*339A>G
|
rs74084043
|
0.00496
|
NM_006017.3(PROM1):c.*684C>T
|
rs140362696
|
0.00496
|
NM_000541.5(SAG):c.301G>A (p.Ala101Thr)
|
rs141521563
|
0.00492
|
NM_004577.3(PSPH):c.-720G>T
|
rs190794562
|
0.00491
|
NM_001077620.3(PRCD):c.*1097T>A
|
rs76768775
|
0.00488
|
NM_003748.4(ALDH4A1):c.1218C>T (p.His406=)
|
rs111291014
|
0.00488
|
NM_001297.5(CNGB1):c.123G>A (p.Pro41=)
|
rs41482547
|
0.00487
|
NM_001297.5(CNGB1):c.634A>T (p.Thr212Ser)
|
rs192628905
|
0.00486
|
NM_000255.4(MMUT):c.*278A>G
|
rs182726681
|
0.00484
|
NM_025136.4(OPA3):c.*1642A>G
|
rs144894771
|
0.00484
|
NM_020686.6(ABAT):c.*2884T>C
|
rs10261
|
0.00480
|
NM_172250.3(MMAA):c.*2807C>T
|
rs7675466
|
0.00480
|
NM_000255.4(MMUT):c.1629C>T (p.Ser543=)
|
rs150642856
|
0.00479
|
NM_177965.4(CFAP418):c.*536A>C
|
rs150311212
|
0.00470
|
NM_004170.6(SLC1A1):c.*948G>A
|
rs138843378
|
0.00466
|
NM_000283.4(PDE6B):c.655T>C (p.Tyr219His)
|
rs62295357
|
0.00465
|
NM_001142800.2(EYS):c.5601T>C (p.Ser1867=)
|
rs182322608
|
0.00464
|
NM_016335.6(PRODH):c.865T>A (p.Leu289Met)
|
rs137852934
|
0.00464
|
NM_002900.3(RBP3):c.2416C>T (p.Arg806Cys)
|
rs35238500
|
0.00463
|
NM_001297.5(CNGB1):c.-47A>G
|
rs186471030
|
0.00462
|
NM_025136.4(OPA3):c.*4954C>T
|
rs146646433
|
0.00462
|
NM_025136.4(OPA3):c.*6208C>T
|
rs139798464
|
0.00458
|
NM_025136.4(OPA3):c.*398G>T
|
rs183851663
|
0.00449
|
NM_033100.4(CDHR1):c.783G>A (p.Pro261=)
|
rs147346345
|
0.00446
|
NM_000440.3(PDE6A):c.1086G>A (p.Ala362=)
|
rs142259966
|
0.00445
|
NM_001142800.2(EYS):c.8429C>T (p.Thr2810Ile)
|
rs144513453
|
0.00443
|
NM_002900.3(RBP3):c.*388G>A
|
rs58627053
|
0.00443
|
NM_000283.4(PDE6B):c.1635C>T (p.Phe545=)
|
rs141813304
|
0.00436
|
NM_000353.3(TAT):c.*852G>A
|
rs191942931
|
0.00427
|
NM_001029883.3(PCARE):c.*1969G>A
|
rs143205929
|
0.00427
|
NM_025136.4(OPA3):c.*3117C>T
|
rs569595277
|
0.00427
|
NM_172250.3(MMAA):c.*541A>G
|
rs114729477
|
0.00424
|
NM_206933.4(USH2A):c.2546G>A (p.Cys849Tyr)
|
rs111033481
|
0.00424
|
NM_000283.4(PDE6B):c.270C>T (p.Asp90=)
|
rs80344633
|
0.00422
|
NM_000170.3(GLDC):c.1705G>A (p.Ala569Thr)
|
rs151268759
|
0.00419
|
NM_000360.4(TH):c.*277G>A
|
rs3842725
|
0.00418
|
NM_012463.4(ATP6V0A2):c.*2876A>T
|
rs191476665
|
0.00418
|
NM_003748.4(ALDH4A1):c.648C>T (p.Gly216=)
|
rs139340058
|
0.00417
|
NM_201548.5(CERKL):c.-63C>T
|
rs140924460
|
0.00414
|
NM_000326.5(RLBP1):c.796-7C>G
|
rs74029958
|
0.00409
|
NM_001252024.2(TRPM1):c.536C>T (p.Ser179Phe)
|
rs138886378
|
0.00409
|
NM_002900.3(RBP3):c.3381G>A (p.Gln1127=)
|
rs113381589
|
0.00409
|
NM_000170.3(GLDC):c.2113G>A (p.Val705Met)
|
rs147275962
|
0.00405
|
NM_001142800.2(EYS):c.281C>A (p.Pro94Gln)
|
rs111947397
|
0.00404
|
NM_033100.4(CDHR1):c.1868A>G (p.Asn623Ser)
|
rs137876961
|
0.00404
|
NM_001077620.3(PRCD):c.*266C>T
|
rs72860161
|
0.00403
|
NM_022132.5(MCCC2):c.-38G>A
|
rs186132078
|
0.00403
|
NM_001902.6(CTH):c.*546G>A
|
rs190637978
|
0.00402
|
NM_003748.4(ALDH4A1):c.*1197C>G
|
rs7419135
|
0.00402
|
NM_001918.5(DBT):c.*3652G>C
|
rs755229964
|
0.00400
|
NM_000541.5(SAG):c.-69G>A
|
rs189763324
|
0.00397
|
NM_002108.4(HAL):c.*555G>A
|
rs137976982
|
0.00396
|
NM_000440.3(PDE6A):c.933+4C>T
|
rs12109444
|
0.00393
|
NM_000018.4(ACADVL):c.308A>G (p.Lys103Arg)
|
rs140566084
|
0.00391
|
NM_000161.3(GCH1):c.68C>T (p.Pro23Leu)
|
rs41298432
|
0.00389
|
NM_001201543.2(FAM161A):c.1133T>G (p.Leu378Arg)
|
rs187695569
|
0.00389
|
NM_006899.5(IDH3B):c.117+6C>A
|
rs191680997
|
0.00388
|
NM_000353.3(TAT):c.*409G>A
|
rs572677025
|
0.00387
|
NM_206933.4(USH2A):c.486-13G>A
|
rs116367260
|
0.00385
|
NM_001370658.1(BTD):c.*211G>A
|
rs78601074
|
0.00384
|
NM_003748.4(ALDH4A1):c.*122T>C
|
rs2230712
|
0.00383
|
NM_205861.3(DHDDS):c.*2045T>A
|
rs76326144
|
0.00381
|
NM_000387.6(SLC25A20):c.*359C>T
|
rs116681393
|
0.00379
|
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn)
|
rs112822256
|
0.00379
|
NM_206933.4(USH2A):c.15433G>A (p.Val5145Ile)
|
rs111033269
|
0.00379
|
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)
|
rs104894313
|
0.00375
|
NM_000283.4(PDE6B):c.1108-9C>T
|
rs200970775
|
0.00373
|
NM_201253.3(CRB1):c.*393T>C
|
rs147966959
|
0.00373
|
NM_001201543.2(FAM161A):c.197C>T (p.Thr66Ile)
|
rs145199539
|
0.00372
|
NM_001297.5(CNGB1):c.3115G>A (p.Gly1039Arg)
|
rs148999583
|
0.00372
|
NM_001201543.2(FAM161A):c.*1129A>C
|
rs76144251
|
0.00370
|
NM_201548.5(CERKL):c.313C>T (p.Arg105Trp)
|
rs149078111
|
0.00370
|
NM_000326.5(RLBP1):c.*356G>A
|
rs190236976
|
0.00366
|
NM_000283.4(PDE6B):c.1060-13G>A
|
rs147482093
|
0.00365
|
NM_001609.4(ACADSB):c.*2803T>C
|
rs187253795
|
0.00365
|
NM_025136.4(OPA3):c.*2101A>T
|
rs139606810
|
0.00363
|
NM_025136.4(OPA3):c.*6101A>G
|
rs187296782
|
0.00363
|
NM_000440.3(PDE6A):c.*1676T>C
|
rs115580452
|
0.00362
|
NM_003060.4(SLC22A5):c.59T>A (p.Leu20His)
|
rs144020613
|
0.00362
|
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr)
|
rs112029032
|
0.00361
|
NM_005327.7(HADH):c.662G>A (p.Arg221His)
|
rs76476980
|
0.00358
|
NM_033100.4(CDHR1):c.*1571C>T
|
rs189528704
|
0.00355
|
NM_144596.4(TTC8):c.194A>G (p.Asp65Gly)
|
rs114557412
|
0.00354
|
NM_205861.3(DHDDS):c.*128C>G
|
rs146706631
|
0.00352
|
NM_000341.4(SLC3A1):c.300C>T (p.Leu100=)
|
rs115030299
|
0.00351
|
NM_001029883.3(PCARE):c.*1525C>T
|
rs149247863
|
0.00349
|
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His)
|
rs28383481
|
0.00347
|
NM_003322.6(TULP1):c.499+12G>C
|
rs185636479
|
0.00347
|
NM_000156.6(GAMT):c.79T>C (p.Tyr27His)
|
rs200833152
|
0.00345
|
NM_001002755.2(NFU1):c.-119G>A
|
rs372505661
|
0.00341
|
NM_022132.5(MCCC2):c.*526C>T
|
rs181669670
|
0.00339
|
NM_172250.3(MMAA):c.*1966C>T
|
rs147742767
|
0.00337
|
NM_014336.5(AIPL1):c.*576G>A
|
rs545350972
|
0.00336
|
NM_001012720.2(RGR):c.744+5A>G
|
rs143720091
|
0.00334
|
NM_001142800.2(EYS):c.5510G>C (p.Trp1837Ser)
|
rs199689193
|
0.00333
|
NM_001918.5(DBT):c.*4124C>A
|
rs139169068
|
0.00327
|
NM_004483.5(GCSH):c.53C>T (p.Ala18Val)
|
rs540997326
|
0.00326
|
NM_016373.4(WWOX):c.332C>G (p.Thr111Ser)
|
rs114755364
|
0.00326
|
NM_003060.4(SLC22A5):c.*1062G>A
|
rs138469584
|
0.00325
|
NM_006017.3(PROM1):c.1497C>T (p.Ile499=)
|
rs113895168
|
0.00322
|
NM_000326.5(RLBP1):c.*217A>C
|
rs150636501
|
0.00319
|
NM_003748.4(ALDH4A1):c.*711C>G
|
rs543972561
|
0.00319
|
NM_144596.4(TTC8):c.1401G>A (p.Pro467=)
|
rs114064158
|
0.00319
|
NM_001029883.3(PCARE):c.3178C>A (p.Pro1060Thr)
|
rs72861054
|
0.00315
|
NM_014270.5(SLC7A9):c.978-17G>A
|
rs45628833
|
0.00315
|
NM_025136.4(OPA3):c.*80G>T
|
rs540023428
|
0.00315
|
NM_002108.4(HAL):c.715+9A>G
|
rs151109430
|
0.00314
|
NM_000440.3(PDE6A):c.1546C>G (p.Leu516Val)
|
rs61733362
|
0.00312
|
NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu)
|
rs114973968
|
0.00309
|
NM_001297.5(CNGB1):c.1479G>A (p.Pro493=)
|
rs1052029
|
0.00308
|
NM_001297.5(CNGB1):c.1626C>T (p.Thr542=)
|
rs148735841
|
0.00308
|
NM_000187.3(HGD):c.-207G>A
|
rs147272996
|
0.00306
|
NM_001077620.3(PRCD):c.*1650T>C
|
rs185494982
|
0.00306
|
NM_052845.4(MMAB):c.*3295C>T
|
rs144430513
|
0.00304
|
NM_172250.3(MMAA):c.*4326A>T
|
rs182426004
|
0.00304
|
NM_052845.4(MMAB):c.*1088A>T
|
rs142486697
|
0.00303
|
NM_201548.5(CERKL):c.*573A>G
|
rs188892870
|
0.00302
|
NM_000016.6(ACADM):c.*826T>C
|
rs200617844
|
0.00301
|
NM_003748.4(ALDH4A1):c.1185+10G>A
|
rs201079601
|
0.00301
|
NM_001017989.3(OPA3):c.143-16812G>A
|
rs192699227
|
0.00300
|
NM_004937.3(CTNS):c.-213T>C
|
rs537567463
|
0.00300
|
NM_014251.3(SLC25A13):c.*570G>A
|
rs147716687
|
0.00299
|
NM_001609.4(ACADSB):c.*808G>C
|
rs41299169
|
0.00297
|
NM_002900.3(RBP3):c.1631G>A (p.Arg544His)
|
rs41284962
|
0.00297
|
NM_001029883.3(PCARE):c.*982C>T
|
rs76693332
|
0.00293
|
NM_001142800.2(EYS):c.2500G>A (p.Val834Ile)
|
rs112464110
|
0.00293
|
NM_001142800.2(EYS):c.7697G>A (p.Gly2566Glu)
|
rs115058877
|
0.00293
|
NM_014270.5(SLC7A9):c.522C>T (p.Ser174=)
|
rs142766345
|
0.00293
|
NM_016247.4(IMPG2):c.*685A>G
|
rs537248333
|
0.00293
|
NM_001077620.3(PRCD):c.*1238G>A
|
rs189599263
|
0.00292
|
NM_014252.4(SLC25A15):c.182G>A (p.Arg61His)
|
rs34615430
|
0.00292
|
NM_000282.4(PCCA):c.231+15C>T
|
rs202049874
|
0.00291
|
NM_000329.3(RPE65):c.*192A>G
|
rs142768806
|
0.00291
|
NM_000440.3(PDE6A):c.*1967C>T
|
rs538582690
|
0.00291
|
NM_004937.2(CTNS):c.-497C>T
|
rs530371788
|
0.00291
|
NM_144596.4(TTC8):c.-25G>A
|
rs7145692
|
0.00290
|
NM_001029883.3(PCARE):c.*1199G>C
|
rs74855521
|
0.00288
|
NM_000341.4(SLC3A1):c.566C>T (p.Thr189Met)
|
rs140317484
|
0.00287
|
NM_001029883.3(PCARE):c.3395A>C (p.Glu1132Ala)
|
rs78874550
|
0.00287
|
NM_014252.4(SLC25A15):c.*2040G>A
|
rs41286983
|
0.00287
|
NM_020686.6(ABAT):c.55C>T (p.Arg19Cys)
|
rs77696190
|
0.00287
|
NM_201548.5(CERKL):c.66C>G (p.Pro22=)
|
rs199762900
|
0.00287
|
NM_001077620.3(PRCD):c.*1480C>G
|
rs139602114
|
0.00286
|
NM_000541.5(SAG):c.525A>G (p.Arg175=)
|
rs199839554
|
0.00285
|
NM_001902.6(CTH):c.346+7G>A
|
rs186217898
|
0.00285
|
NM_172250.3(MMAA):c.*1610C>T
|
rs185925141
|
0.00285
|
NM_001142800.2(EYS):c.2613C>T (p.Asp871=)
|
rs192059823
|
0.00284
|
NM_016335.6(PRODH):c.1322T>C (p.Leu441Pro)
|
rs2904551
|
0.00282
|
NM_001029883.3(PCARE):c.2617A>G (p.Thr873Ala)
|
rs190462758
|
0.00281
|
NM_000018.4(ACADVL):c.1066A>G (p.Ile356Val)
|
rs150140386
|
0.00280
|
NM_001029883.3(PCARE):c.*3063A>G
|
rs72861014
|
0.00280
|
NM_002108.4(HAL):c.*756C>T
|
rs115037995
|
0.00280
|
NM_001201543.2(FAM161A):c.354G>T (p.Gln118His)
|
rs140622968
|
0.00277
|
NM_000170.3(GLDC):c.*115A>T
|
rs148273307
|
0.00276
|
NM_001297.5(CNGB1):c.3147C>T (p.His1049=)
|
rs200581517
|
0.00275
|
NM_205861.3(DHDDS):c.140G>A (p.Arg47Gln)
|
rs149949619
|
0.00274
|
NM_000341.4(SLC3A1):c.797T>C (p.Phe266Ser)
|
rs141587158
|
0.00273
|
NM_001142800.2(EYS):c.5629C>T (p.Arg1877Trp)
|
rs139822086
|
0.00273
|
NM_002108.4(HAL):c.1106G>A (p.Arg369Gln)
|
rs117991621
|
0.00273
|
NM_000255.4(MMUT):c.*627C>T
|
rs534290000
|
0.00272
|
NM_000277.3(PAH):c.772C>T (p.Leu258=)
|
rs75065106
|
0.00272
|
NM_000326.5(RLBP1):c.29T>A (p.Met10Lys)
|
rs77384282
|
0.00272
|
NM_016247.4(IMPG2):c.3038C>T (p.Pro1013Leu)
|
rs116450347
|
0.00272
|
NM_206933.4(USH2A):c.2510G>A (p.Arg837Gln)
|
rs148594393
|
0.00272
|
NM_025136.4(OPA3):c.*5944G>A
|
rs190885103
|
0.00271
|
NM_000554.6(CRX):c.*756T>A
|
rs886054553
|
0.00270
|
NM_001352514.2(HLCS):c.*3159_*3162del
|
rs535525635
|
0.00270
|
NM_001142800.2(EYS):c.4264A>T (p.Thr1422Ser)
|
rs200318120
|
0.00269
|
NM_001297.5(CNGB1):c.*1429T>C
|
rs139212660
|
0.00267
|
NM_022132.5(MCCC2):c.1439A>G (p.Asn480Ser)
|
rs115328026
|
0.00266
|
NM_000108.5(DLD):c.*1422C>T
|
rs568479120
|
0.00265
|
NM_001029883.3(PCARE):c.*3050C>T
|
rs188267834
|
0.00264
|
NM_144596.4(TTC8):c.*93G>A
|
rs116740320
|
0.00263
|
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn)
|
rs140806722
|
0.00262
|
NM_000341.4(SLC3A1):c.231T>A (p.Ser77=)
|
rs146630359
|
0.00260
|
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys)
|
rs121912698
|
0.00260
|
NM_002108.4(HAL):c.*1518C>T
|
rs148189130
|
0.00260
|
NM_004937.3(CTNS):c.-258G>A
|
rs559229383
|
0.00259
|
NM_002108.4(HAL):c.1645G>A (p.Val549Met)
|
rs61937878
|
0.00258
|
NM_001297.5(CNGB1):c.1580C>T (p.Ala527Val)
|
rs78292723
|
0.00257
|
NM_183050.4(BCKDHB):c.*2212T>C
|
rs191556844
|
0.00257
|
NM_000277.3(PAH):c.*650A>G
|
rs180991851
|
0.00256
|
NM_004170.6(SLC1A1):c.*355A>T
|
rs113770028
|
0.00256
|
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys)
|
rs117687681
|
0.00255
|
NM_000255.4(MMUT):c.*126A>G
|
rs192605776
|
0.00255
|
NM_001297.5(CNGB1):c.159+14C>T
|
rs199591689
|
0.00255
|
NM_000018.4(ACADVL):c.1839G>A (p.Arg613=)
|
rs79125791
|
0.00254
|
NM_000255.4(MMUT):c.*558A>G
|
rs111322712
|
0.00254
|
NM_201253.3(CRB1):c.600A>G (p.Thr200=)
|
rs77713666
|
0.00254
|
NM_000440.3(PDE6A):c.*2383G>A
|
rs77109719
|
0.00253
|
NM_000126.4(ETFA):c.*99G>A
|
rs140121559
|
0.00250
|
NM_003748.4(ALDH4A1):c.228G>A (p.Ser76=)
|
rs145686117
|
0.00250
|
NM_000161.3(GCH1):c.*93G>A
|
rs41298438
|
0.00249
|
NM_003748.4(ALDH4A1):c.413C>T (p.Pro138Leu)
|
rs139640415
|
0.00249
|
NM_000541.5(SAG):c.374C>T (p.Thr125Met)
|
rs137886124
|
0.00247
|
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln)
|
rs148584617
|
0.00244
|
NM_000440.3(PDE6A):c.*1315G>A
|
rs144468326
|
0.00244
|
NM_014251.3(SLC25A13):c.1680C>T (p.Ser560=)
|
rs150082469
|
0.00244
|
NM_052845.4(MMAB):c.*1685G>A
|
rs117011771
|
0.00244
|
NM_172250.3(MMAA):c.*4533C>T
|
rs114762906
|
0.00244
|
NM_000018.4(ACADVL):c.-36A>G
|
rs372592554
|
0.00243
|
NM_000255.4(MMUT):c.205A>G (p.Ile69Val)
|
rs115923556
|
0.00243
|
NM_002108.4(HAL):c.1764-4G>T
|
rs189238113
|
0.00241
|
NM_206933.4(USH2A):c.478G>A (p.Gly160Ser)
|
rs111033479
|
0.00240
|
NM_000326.5(RLBP1):c.-199T>C
|
rs117263224
|
0.00239
|
NM_000554.6(CRX):c.*839C>T
|
rs541379131
|
0.00239
|
NM_201548.5(CERKL):c.157G>A (p.Glu53Lys)
|
rs141389059
|
0.00238
|
NM_000283.4(PDE6B):c.711+10C>T
|
rs201100689
|
0.00237
|
NM_001379270.1(CNGA1):c.*342T>C
|
rs186362115
|
0.00237
|
NM_000255.4(MMUT):c.*257A>C
|
rs187747098
|
0.00235
|
NM_001352514.2(HLCS):c.1074G>A (p.Thr358=)
|
rs116985497
|
0.00235
|
NM_003982.4(SLC7A7):c.1380C>G (p.Ile460Met)
|
rs139415285
|
0.00235
|
NM_000170.3(GLDC):c.1229G>A (p.Arg410Lys)
|
rs144090917
|
0.00234
|
NM_206933.4(USH2A):c.4560C>T (p.Ile1520=)
|
rs148000219
|
0.00234
|
NM_172250.3(MMAA):c.*188A>G
|
rs886059091
|
0.00233
|
NM_000126.4(ETFA):c.186+7A>G
|
rs184587113
|
0.00231
|
NM_000320.3(QDPR):c.*568T>G
|
rs560933456
|
0.00230
|
NM_000440.3(PDE6A):c.-11G>T
|
rs112926956
|
0.00230
|
NM_020166.5(MCCC1):c.*1A>T
|
rs115605600
|
0.00230
|
NM_025136.4(OPA3):c.*6554G>A
|
rs184177890
|
0.00229
|
NM_001297.5(CNGB1):c.761+15A>G
|
rs187864931
|
0.00227
|
NM_144596.4(TTC8):c.1253A>G (p.Gln418Arg)
|
rs142938748
|
0.00227
|
NM_016247.4(IMPG2):c.*388A>G
|
rs114271586
|
0.00226
|
NM_052845.4(MMAB):c.*1067C>T
|
rs143292900
|
0.00226
|
NM_004170.6(SLC1A1):c.*253A>G
|
rs141026843
|
0.00225
|
NM_025136.4(OPA3):c.*3755G>A
|
rs555830952
|
0.00225
|
NM_000440.3(PDE6A):c.*1703A>C
|
rs149268409
|
0.00224
|
NM_000016.6(ACADM):c.469-9A>G
|
rs181322317
|
0.00223
|
NM_001017989.3(OPA3):c.184G>A (p.Gly62Ser)
|
rs140959406
|
0.00223
|
NM_001142800.2(EYS):c.3329C>G (p.Thr1110Ser)
|
rs143327210
|
0.00223
|
NM_000350.3(ABCA4):c.466A>G (p.Ile156Val)
|
rs62646863
|
0.00222
|
NM_002108.4(HAL):c.-68G>A
|
rs565607247
|
0.00222
|
NM_006017.3(PROM1):c.1977C>T (p.Asn659=)
|
rs149028760
|
0.00222
|
NM_014252.3(SLC25A15):c.-320G>C
|
rs12372842
|
0.00222
|
NM_025136.4(OPA3):c.*540G>T
|
rs149360920
|
0.00220
|
NM_000282.4(PCCA):c.1236A>G (p.Pro412=)
|
rs41281120
|
0.00219
|
NM_001297.5(CNGB1):c.376G>C (p.Ala126Pro)
|
rs200332871
|
0.00219
|
NM_004937.3(CTNS):c.116C>T (p.Ser39Leu)
|
rs144751390
|
0.00219
|
NM_018418.5(SPATA7):c.815G>A (p.Arg272Gln)
|
rs34682727
|
0.00218
|
NM_000541.5(SAG):c.588G>A (p.Ala196=)
|
rs190853693
|
0.00217
|
NM_003748.4(ALDH4A1):c.*9C>T
|
rs138534161
|
0.00217
|
NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp)
|
rs34596189
|
0.00216
|
NM_000329.3(RPE65):c.*511G>A
|
rs149449684
|
0.00214
|
NM_144631.6(ZNF513):c.781G>A (p.Val261Met)
|
rs61742428
|
0.00214
|
NM_000170.3(GLDC):c.2487C>T (p.Ala829=)
|
rs141806715
|
0.00213
|
NM_001142800.2(EYS):c.788A>G (p.His263Arg)
|
rs139517572
|
0.00213
|
NM_001297.5(CNGB1):c.3340G>A (p.Ala1114Thr)
|
rs200242407
|
0.00213
|
NM_025136.4(OPA3):c.*5510G>A
|
rs180756622
|
0.00213
|
NM_000883.4(IMPDH1):c.1142A>G (p.His381Arg)
|
rs61751223
|
0.00212
|
NM_004744.5(LRAT):c.*3263C>T
|
rs28469192
|
0.00212
|
NM_031220.4(PITPNM3):c.1878G>C (p.Gln626His)
|
rs76024428
|
0.00212
|
NM_000322.5(PRPH2):c.-60C>T
|
rs144011444
|
0.00211
|
NM_000341.4(SLC3A1):c.1398C>T (p.Asn466=)
|
rs140821819
|
0.00211
|
NM_000016.6(ACADM):c.127G>A (p.Glu43Lys)
|
rs147559466
|
0.00210
|
NM_153006.3(NAGS):c.1281C>G (p.Ala427=)
|
rs371886833
|
0.00210
|
NM_000170.3(GLDC):c.1156-7C>G
|
rs150095531
|
0.00208
|
NM_001352514.2(HLCS):c.*590A>G
|
rs148195019
|
0.00207
|
NM_004937.3(CTNS):c.*942C>T
|
rs140127855
|
0.00207
|
NM_001379270.1(CNGA1):c.1031A>G (p.Lys344Arg)
|
rs140419673
|
0.00205
|
NM_001876.4(CPT1A):c.2198A>G (p.Asn733Ser)
|
rs151271754
|
0.00205
|
NM_002900.3(RBP3):c.843C>T (p.Pro281=)
|
rs35186791
|
0.00203
|
NM_002108.4(HAL):c.1584G>A (p.Thr528=)
|
rs115620008
|
0.00202
|
NM_004744.5(LRAT):c.*3T>G
|
rs200942685
|
0.00202
|
NM_001142800.2(EYS):c.-337T>A
|
rs145321084
|
0.00201
|
NM_201548.5(CERKL):c.*1023G>A
|
rs192210010
|
0.00201
|
NM_206933.4(USH2A):c.879T>G (p.Leu293=)
|
rs3767698
|
0.00201
|
NM_000170.3(GLDC):c.2683A>G (p.Met895Val)
|
rs141152043
|
0.00200
|
NM_001077620.3(PRCD):c.*1508C>T
|
rs181845864
|
0.00200
|
NM_002900.3(RBP3):c.1933C>T (p.His645Tyr)
|
rs138305522
|
0.00200
|
NM_020686.6(ABAT):c.*1814T>C
|
rs41312250
|
0.00200
|
NM_004937.3(CTNS):c.*835A>C
|
rs57765820
|
0.00198
|
NM_005327.7(HADH):c.643C>A (p.Pro215Thr)
|
rs140413151
|
0.00198
|
NM_020686.6(ABAT):c.-52G>T
|
rs532269694
|
0.00198
|
NM_033100.4(CDHR1):c.*2870T>C
|
rs182930531
|
0.00198
|
NM_000532.5(PCCB):c.*44C>T
|
rs201452852
|
0.00197
|
NM_003748.4(ALDH4A1):c.244G>A (p.Val82Met)
|
rs76762510
|
0.00197
|
NM_000717.5(CA4):c.*59G>A
|
rs530720914
|
0.00195
|
NM_005327.7(HADH):c.456G>T (p.Gln152His)
|
rs1051519
|
0.00195
|
NM_016247.4(IMPG2):c.*180T>G
|
rs193277987
|
0.00195
|
NM_032119.4(ADGRV1):c.3191A>C (p.Glu1064Ala)
|
rs190922596
|
0.00195
|
NM_033100.4(CDHR1):c.*2150A>G
|
rs565352007
|
0.00195
|
NM_004170.6(SLC1A1):c.*1393C>T
|
rs182728102
|
0.00194
|
NM_006017.3(PROM1):c.-25T>A
|
rs149845694
|
0.00194
|
NM_033100.4(CDHR1):c.938G>A (p.Arg313Lys)
|
rs144058677
|
0.00194
|
NM_000018.4(ACADVL):c.1828-4C>G
|
rs184559206
|
0.00192
|
NM_001029883.3(PCARE):c.2600C>T (p.Pro867Leu)
|
rs182248363
|
0.00192
|
NM_001142800.2(EYS):c.4985A>T (p.Asp1662Val)
|
rs147641443
|
0.00192
|
NM_006343.3(MERTK):c.*193T>C
|
rs79712097
|
0.00192
|
NM_004170.6(SLC1A1):c.*629C>T
|
rs550214254
|
0.00191
|
NM_033100.4(CDHR1):c.*1269G>A
|
rs184429596
|
0.00191
|
NM_006017.3(PROM1):c.1579-6T>C
|
rs181261277
|
0.00190
|
NM_206933.4(USH2A):c.3621C>T (p.Ile1207=)
|
rs146462407
|
0.00190
|
NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile)
|
rs41303255
|
0.00190
|
NM_033100.4(CDHR1):c.*3851C>G
|
rs182752708
|
0.00189
|
NM_000440.3(PDE6A):c.102C>T (p.Ser34=)
|
rs140009042
|
0.00188
|
NM_001142800.2(EYS):c.-414G>A
|
rs181146743
|
0.00187
|
NM_012469.4(PRPF6):c.-99C>G
|
rs562369921
|
0.00187
|
NM_014270.5(SLC7A9):c.*8C>T
|
rs145079057
|
0.00187
|
NM_025114.4(CEP290):c.3790C>T (p.Arg1264Cys)
|
rs139998038
|
0.00187
|
NM_153006.3(NAGS):c.374C>A (p.Thr125Lys)
|
rs185863881
|
0.00187
|
NM_206933.4(USH2A):c.3123C>A (p.His1041Gln)
|
rs149304901
|
0.00187
|
NM_001278293.3(ARL6):c.*495C>T
|
rs188498639
|
0.00186
|
NM_000191.3(HMGCL):c.*104G>A
|
rs552915017
|
0.00185
|
NM_025136.3(OPA3):c.-113T>C
|
rs139731330
|
0.00185
|
NM_025136.4(OPA3):c.*422C>T
|
rs116977551
|
0.00184
|
NM_000350.3(ABCA4):c.838A>T (p.Met280Leu)
|
rs138682163
|
0.00183
|
NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly)
|
rs141093638
|
0.00181
|
NM_000283.4(PDE6B):c.*474C>G
|
rs577140751
|
0.00180
|
NM_000440.3(PDE6A):c.*1515G>A
|
rs536740900
|
0.00180
|
NM_001297.5(CNGB1):c.2475C>T (p.Tyr825=)
|
rs200934249
|
0.00180
|
NM_000883.4(IMPDH1):c.1108G>A (p.Ala370Thr)
|
rs72624961
|
0.00179
|
NM_001918.5(DBT):c.753C>T (p.Asp251=)
|
rs79292123
|
0.00179
|
NM_004170.6(SLC1A1):c.920T>C (p.Ile307Thr)
|
rs34342853
|
0.00179
|
NM_201548.5(CERKL):c.*567T>C
|
rs10490690
|
0.00179
|
NM_000255.4(MMUT):c.-78C>A
|
rs553218776
|
0.00178
|
NM_000255.4(MMUT):c.-79G>A
|
rs184509406
|
0.00178
|
NM_014251.3(SLC25A13):c.1434G>T (p.Gly478=)
|
rs146111714
|
0.00178
|
NM_033100.4(CDHR1):c.1873C>G (p.His625Asp)
|
rs149043166
|
0.00178
|
NM_172250.3(MMAA):c.*97G>C
|
rs148424051
|
0.00178
|
NM_000883.4(IMPDH1):c.*721G>A
|
rs186714165
|
0.00177
|
NM_002900.3(RBP3):c.3062C>A (p.Ser1021Tyr)
|
rs148591757
|
0.00177
|
NM_016247.4(IMPG2):c.*471A>T
|
rs191621154
|
0.00177
|
NM_001256789.3(CACNA1F):c.2204A>C (p.Asn735Thr)
|
rs141159097
|
0.00176
|
NM_004744.5(LRAT):c.*3654T>C
|
rs191784588
|
0.00176
|
NM_005957.5(MTHFR):c.1555C>T (p.Arg519Cys)
|
rs45496998
|
0.00176
|
NM_018418.5(SPATA7):c.729C>T (p.Arg243=)
|
rs151338404
|
0.00176
|
NM_000372.5(TYR):c.1366+4A>G
|
rs61754398
|
0.00175
|
NM_001029883.3(PCARE):c.*3037G>A
|
rs569687522
|
0.00175
|
NM_001142800.2(EYS):c.7737T>C (p.Thr2579=)
|
rs191846522
|
0.00175
|
NM_001918.5(DBT):c.*5328C>G
|
rs150770445
|
0.00175
|
NM_001278293.3(ARL6):c.-137A>C
|
rs192372191
|
0.00174
|
NM_001875.5(CPS1):c.783C>T (p.Ile261=)
|
rs142468138
|
0.00174
|
NM_003748.3(ALDH4A1):c.-73C>T
|
rs559524012
|
0.00174
|
NM_014252.4(SLC25A15):c.*1721C>T
|
rs536553279
|
0.00173
|
NM_000532.5(PCCB):c.49C>A (p.Leu17Met)
|
rs200185747
|
0.00172
|
NM_004279.3(PMPCB):c.1336A>G (p.Asn446Asp)
|
rs144744182
|
0.00172
|
NM_004744.5(LRAT):c.*3712G>C
|
rs144961748
|
0.00172
|
NM_001352514.2(HLCS):c.*1856T>C
|
rs151042283
|
0.00171
|
NM_022132.5(MCCC2):c.1217-7C>G
|
rs148369119
|
0.00171
|
NM_000159.4(GCDH):c.642G>A (p.Thr214=)
|
rs142806397
|
0.00170
|
NM_000541.5(SAG):c.-223C>G
|
rs140569105
|
0.00170
|
NM_001029883.3(PCARE):c.*1798C>T
|
rs115788507
|
0.00170
|
NM_172250.3(MMAA):c.*3325C>T
|
rs529131828
|
0.00170
|
NM_022132.5(MCCC2):c.*191A>T
|
rs142332769
|
0.00169
|
NM_144631.6(ZNF513):c.-91C>T
|
rs530824832
|
0.00169
|
NM_206933.4(USH2A):c.4627+562C>T
|
rs769348449
|
0.00169
|
NM_001081.4(CUBN):c.10119C>A (p.Val3373=)
|
rs139596037
|
0.00168
|
NM_016247.4(IMPG2):c.1893G>A (p.Pro631=)
|
rs149291477
|
0.00168
|
NM_177965.4(CFAP418):c.126G>C (p.Arg42=)
|
rs115853053
|
0.00168
|
NM_001370658.1(BTD):c.202C>G (p.Gln68Glu)
|
rs151071780
|
0.00167
|
NM_033100.4(CDHR1):c.1071C>T (p.Ser357=)
|
rs146588811
|
0.00167
|
NM_206933.4(USH2A):c.3648C>T (p.Tyr1216=)
|
rs147947402
|
0.00167
|
NM_206933.4(USH2A):c.4627+1133G>A
|
rs138139294
|
0.00167
|
NM_001142800.2(EYS):c.6119T>A (p.Val2040Asp)
|
rs201580493
|
0.00166
|
NM_001142800.2(EYS):c.6535A>G (p.Ile2179Val)
|
rs148019592
|
0.00165
|
NM_172250.3(MMAA):c.-66+10G>C
|
rs546775043
|
0.00165
|
NM_172250.3(MMAA):c.-14C>T
|
rs138947726
|
0.00164
|
NM_201548.5(CERKL):c.27G>A (p.Arg9=)
|
rs368855330
|
0.00164
|
NM_000018.4(ACADVL):c.1678+23C>T
|
rs147546456
|
0.00163
|
NM_000255.4(MMUT):c.1125G>A (p.Met375Ile)
|
rs148091558
|
0.00163
|
NM_000532.5(PCCB):c.774C>G (p.His258Gln)
|
rs141615209
|
0.00163
|
NM_005050.4(ABCD4):c.1411C>T (p.Arg471Trp)
|
rs45568335
|
0.00163
|
NM_144631.6(ZNF513):c.290C>T (p.Ala97Val)
|
rs35554630
|
0.00163
|
NM_201548.5(CERKL):c.820+9G>A
|
rs189638090
|
0.00163
|
NM_206933.4(USH2A):c.4627+281T>C
|
rs570544314
|
0.00163
|
NM_000071.3(CBS):c.1059G>A (p.Thr353=)
|
rs61735859
|
0.00162
|
NM_052845.4(MMAB):c.*2342G>A
|
rs72650176
|
0.00162
|
NM_177965.4(CFAP418):c.*2102G>A
|
rs184350873
|
0.00162
|
NM_003748.4(ALDH4A1):c.*189G>A
|
rs11484737
|
0.00161
|
NM_020686.6(ABAT):c.*1922G>A
|
rs116752370
|
0.00161
|
NM_022367.4(SEMA4A):c.*102C>G
|
rs76347207
|
0.00161
|
NM_001004334.4(GPR179):c.5975G>A (p.Gly1992Asp)
|
rs200936863
|
0.00160
|
NM_014270.5(SLC7A9):c.526G>A (p.Val176Ile)
|
rs138744722
|
0.00160
|
NM_000282.4(PCCA):c.1558A>T (p.Ser520Cys)
|
rs112237881
|
0.00159
|
NM_000666.3(ACY1):c.1177C>T (p.Arg393Cys)
|
rs6804746
|
0.00159
|
NM_001081.4(CUBN):c.*436C>A
|
rs574512019
|
0.00159
|
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln)
|
rs150555106
|
0.00158
|
NM_201548.5(CERKL):c.783T>C (p.Pro261=)
|
rs77741297
|
0.00158
|
NM_206933.4(USH2A):c.13709G>A (p.Arg4570His)
|
rs730254
|
0.00158
|
NM_002900.3(RBP3):c.2168C>T (p.Pro723Leu)
|
rs148247227
|
0.00157
|
NM_001080.3(ALDH5A1):c.*472C>T
|
rs140376278
|
0.00156
|
NM_004170.6(SLC1A1):c.633C>T (p.Asn211=)
|
rs143022823
|
0.00156
|
NM_025136.4(OPA3):c.*2008C>T
|
rs144432336
|
0.00156
|
NM_025136.4(OPA3):c.*3360G>A
|
rs545764728
|
0.00156
|
NM_172250.3(MMAA):c.*1988A>T
|
rs141116337
|
0.00156
|
NM_004744.5(LRAT):c.*3714T>C
|
rs183640442
|
0.00155
|
NM_012463.4(ATP6V0A2):c.*2618A>G
|
rs193208741
|
0.00155
|
NM_177965.4(CFAP418):c.528A>G (p.Thr176=)
|
rs143748636
|
0.00155
|
NM_001875.5(CPS1):c.1630A>T (p.Thr544Ser)
|
rs144230667
|
0.00154
|
NM_000326.5(RLBP1):c.924C>G (p.Pro308=)
|
rs144615495
|
0.00153
|
NM_001142800.2(EYS):c.1899A>G (p.Gln633=)
|
rs373197894
|
0.00153
|
NM_002860.4(ALDH18A1):c.2232G>A (p.Ser744=)
|
rs148601288
|
0.00153
|
NM_004744.5(LRAT):c.*3819T>C
|
rs191600425
|
0.00153
|
NM_005518.4(HMGCS2):c.174C>T (p.Ala58=)
|
rs138739620
|
0.00153
|
NM_016247.4(IMPG2):c.*2592T>C
|
rs555283960
|
0.00153
|
NM_022367.4(SEMA4A):c.-165G>A
|
rs113436119
|
0.00153
|
NM_000687.4(AHCY):c.853C>T (p.Arg285Trp)
|
rs116846245
|
0.00152
|
NM_001171613.2(PREPL):c.*561A>G
|
rs546219789
|
0.00152
|
NM_006017.3(PROM1):c.1345G>A (p.Val449Met)
|
rs200620291
|
0.00152
|
NM_015662.3(IFT172):c.3073C>G (p.Pro1025Ala)
|
rs61747068
|
0.00152
|
NM_000161.3(GCH1):c.*736A>G
|
rs150176097
|
0.00151
|
NM_001077620.3(PRCD):c.*265C>T
|
rs541445094
|
0.00151
|
NM_002108.4(HAL):c.*428C>G
|
rs186840501
|
0.00150
|
NM_005050.4(ABCD4):c.751C>T (p.Arg251Cys)
|
rs141868117
|
0.00150
|
NM_005589.4(ALDH6A1):c.*234C>T
|
rs117311919
|
0.00150
|
NM_006017.3(PROM1):c.2211+7C>T
|
rs372262346
|
0.00150
|
NM_012463.4(ATP6V0A2):c.2238C>T (p.Cys746=)
|
rs138886791
|
0.00150
|
NM_000554.6(CRX):c.*683G>A
|
rs867379668
|
0.00149
|
NM_003748.4(ALDH4A1):c.298-14C>T
|
rs201072479
|
0.00149
|
NM_016335.6(PRODH):c.1217C>T (p.Pro406Leu)
|
rs3970555
|
0.00149
|
NM_025136.4(OPA3):c.*5565C>T
|
rs145816878
|
0.00149
|
NM_000018.4(ACADVL):c.*53C>T
|
rs535274747
|
0.00148
|
NM_001142800.2(EYS):c.6632C>T (p.Ser2211Leu)
|
rs145623359
|
0.00148
|
NM_000440.3(PDE6A):c.*51A>T
|
rs372592244
|
0.00146
|
NM_000532.5(PCCB):c.872G>A (p.Cys291Tyr)
|
rs77820367
|
0.00146
|
NM_004172.5(SLC1A3):c.*1206G>A
|
rs530235885
|
0.00146
|
NM_005589.4(ALDH6A1):c.*1655C>T
|
rs12147048
|
0.00146
|
NM_206933.4(USH2A):c.486-15C>T
|
rs114194722
|
0.00146
|
NM_001029883.3(PCARE):c.*399C>T
|
rs571534411
|
0.00145
|
NM_001201543.2(FAM161A):c.2064T>C (p.Ile688=)
|
rs138464813
|
0.00145
|
NM_005589.4(ALDH6A1):c.*1367A>G
|
rs186963818
|
0.00145
|
NM_033100.4(CDHR1):c.1461G>A (p.Gly487=)
|
rs141787212
|
0.00145
|
NM_000387.6(SLC25A20):c.*476G>T
|
rs545212823
|
0.00144
|
NM_000481.4(AMT):c.*545C>T
|
rs114057053
|
0.00144
|
NM_003060.4(SLC22A5):c.-149G>A
|
rs57262206
|
0.00144
|
NM_000282.4(PCCA):c.828T>C (p.Gly276=)
|
rs143838146
|
0.00143
|
NM_201253.3(CRB1):c.2307C>T (p.Arg769=)
|
rs151104285
|
0.00143
|
NM_000326.5(RLBP1):c.141+6G>A
|
rs181321141
|
0.00142
|
NM_000541.5(SAG):c.420A>G (p.Pro140=)
|
rs150046934
|
0.00141
|
NM_001029883.3(PCARE):c.*1930C>T
|
rs151223779
|
0.00141
|
NM_001352514.2(HLCS):c.*2921A>G
|
rs555149143
|
0.00141
|
NM_002150.3(HPD):c.498G>A (p.Met166Ile)
|
rs149081239
|
0.00141
|
NM_144596.4(TTC8):c.1077C>T (p.Asn359=)
|
rs150896551
|
0.00141
|
NM_001029883.3(PCARE):c.*658G>C
|
rs143745034
|
0.00140
|
NM_001352514.2(HLCS):c.*2243C>T
|
rs554230015
|
0.00140
|
NM_177965.4(CFAP418):c.*2492C>T
|
rs529486839
|
0.00140
|
NM_000018.4(ACADVL):c.1606-22C>T
|
rs370303265
|
0.00139
|
NM_000018.4(ACADVL):c.878+33T>G
|
rs145589195
|
0.00139
|
NM_001609.4(ACADSB):c.*277A>T
|
rs149609453
|
0.00139
|
NM_033100.4(CDHR1):c.118G>A (p.Ala40Thr)
|
rs138182270
|
0.00139
|
NM_033100.4(CDHR1):c.1553+6T>C
|
rs199567321
|
0.00139
|
NM_014252.4(SLC25A15):c.*2630C>T
|
rs138530613
|
0.00138
|
NM_014336.5(AIPL1):c.244C>T (p.His82Tyr)
|
rs144822294
|
0.00138
|
NM_020686.6(ABAT):c.*1319C>G
|
rs186937149
|
0.00138
|
NM_000137.4(FAH):c.1098G>A (p.Ser366=)
|
rs35033541
|
0.00137
|
NM_001195087.2(GGACT):c.*1774G>C
|
rs41281124
|
0.00137
|
NM_001297.5(CNGB1):c.*1606G>A
|
rs185229037
|
0.00137
|
NM_022132.5(MCCC2):c.1322T>C (p.Ile441Thr)
|
rs139852818
|
0.00137
|
NM_002032.3(FTH1):c.*396A>G
|
rs565138844
|
0.00136
|
NM_001029883.3(PCARE):c.2418C>T (p.Pro806=)
|
rs189042259
|
0.00135
|
NM_002225.5(IVD):c.*131G>A
|
rs190115786
|
0.00135
|
NM_153006.3(NAGS):c.1216G>A (p.Asp406Asn)
|
rs140481641
|
0.00135
|
NM_172250.3(MMAA):c.*3035A>C
|
rs576544645
|
0.00135
|
NM_172250.3(MMAA):c.102C>T (p.Leu34=)
|
rs146372922
|
0.00135
|
NM_206933.4(USH2A):c.4627+981T>A
|
rs41277220
|
0.00135
|
NM_052845.4(MMAB):c.-4G>C
|
rs372195202
|
0.00134
|
NM_153006.3(NAGS):c.612A>G (p.Val204=)
|
rs139907815
|
0.00134
|
NM_001081.4(CUBN):c.8894T>C (p.Phe2965Ser)
|
rs117620008
|
0.00133
|
NM_001142800.2(EYS):c.1145A>T (p.Asn382Ile)
|
rs144935927
|
0.00133
|
NM_001142800.2(EYS):c.6547A>G (p.Ser2183Gly)
|
rs368458853
|
0.00133
|
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys)
|
rs150343959
|
0.00133
|
NM_002108.4(HAL):c.855+9C>T
|
rs35144639
|
0.00133
|
NM_003748.4(ALDH4A1):c.1096G>A (p.Gly366Arg)
|
rs41306567
|
0.00133
|
NM_005589.4(ALDH6A1):c.*1602G>A
|
rs550384718
|
0.00133
|
NM_212552.3(BOLA3):c.258+9A>C
|
rs201380456
|
0.00133
|
NM_001142800.2(EYS):c.1184+14T>C
|
rs182780299
|
0.00132
|
NM_001142800.2(EYS):c.5474C>A (p.Thr1825Asn)
|
rs182151153
|
0.00132
|
NM_020166.5(MCCC1):c.639+13A>G
|
rs140342772
|
0.00132
|
NM_000019.3(ACAT1):c.*553T>A
|
rs183999318
|
0.00131
|
NM_000159.4(GCDH):c.1197C>T (p.His399=)
|
rs139344943
|
0.00131
|
NM_000170.3(GLDC):c.2955G>A (p.Thr985=)
|
rs142004524
|
0.00131
|
NM_001201543.2(FAM161A):c.1989C>T (p.Val663=)
|
rs201362403
|
0.00131
|
NM_001297.5(CNGB1):c.232G>A (p.Ala78Thr)
|
rs201407276
|
0.00131
|
NM_001739.2(CA5A):c.788G>A (p.Arg263His)
|
rs201195769
|
0.00131
|
NM_001875.5(CPS1):c.4252C>T (p.Pro1418Ser)
|
rs150966847
|
0.00131
|
NM_001875.5(CPS1):c.*274G>A
|
rs528584074
|
0.00130
|
NM_014014.5(SNRNP200):c.*61T>C
|
rs571136350
|
0.00130
|
NM_000541.5(SAG):c.31G>A (p.Glu11Lys)
|
rs200078242
|
0.00129
|
NM_006915.3(RP2):c.*798T>C
|
rs77536091
|
0.00129
|
NM_006017.3(PROM1):c.868A>C (p.Ser290Arg)
|
rs182096110
|
0.00128
|
NM_016247.4(IMPG2):c.*2242G>A
|
rs531023160
|
0.00128
|
NM_025136.4(OPA3):c.*3884G>A
|
rs187028696
|
0.00128
|
NM_054012.4(ASS1):c.1101G>A (p.Leu367=)
|
rs139031154
|
0.00128
|
NM_014270.5(SLC7A9):c.1161C>T (p.Gly387=)
|
rs147267783
|
0.00127
|
NM_002900.3(RBP3):c.1795A>G (p.Ile599Val)
|
rs144289912
|
0.00126
|
NM_001698.3(AUH):c.381A>G (p.Ile127Met)
|
rs146227896
|
0.00125
|
NM_001918.5(DBT):c.*3461A>G
|
rs532058526
|
0.00125
|
NM_000018.4(ACADVL):c.818G>C (p.Gly273Ala)
|
rs150149784
|
0.00124
|
NM_000440.3(PDE6A):c.918G>A (p.Arg306=)
|
rs139553131
|
0.00124
|
NM_001142800.2(EYS):c.4554A>C (p.Thr1518=)
|
rs772339340
|
0.00124
|
NM_001142800.2(EYS):c.5743A>G (p.Ser1915Gly)
|
rs188093810
|
0.00124
|
NM_003748.4(ALDH4A1):c.102C>T (p.Asn34=)
|
rs148778436
|
0.00124
|
NM_000126.4(ETFA):c.*46C>T
|
rs183981964
|
0.00123
|
NM_000883.4(IMPDH1):c.*613T>C
|
rs11549800
|
0.00123
|
NM_012469.4(PRPF6):c.-54C>T
|
rs750275951
|
0.00123
|
NM_015506.3(MMACHC):c.332G>A (p.Arg111Gln)
|
rs200300254
|
0.00123
|
NM_144631.6(ZNF513):c.395G>C (p.Cys132Ser)
|
rs184500376
|
0.00122
|
NM_206933.4(USH2A):c.14276G>A (p.Gly4759Glu)
|
rs112459877
|
0.00122
|
NM_001002755.2(NFU1):c.-200G>A
|
rs531177766
|
0.00121
|
NM_003124.5(SPR):c.*321G>C
|
rs527829365
|
0.00121
|
NM_003322.6(TULP1):c.544A>G (p.Arg182Gly)
|
rs142641513
|
0.00121
|
NM_022132.5(MCCC2):c.450G>C (p.Val150=)
|
rs151098534
|
0.00121
|
NM_033100.4(CDHR1):c.*2019A>G
|
rs546338766
|
0.00121
|
NM_033100.4(CDHR1):c.1133G>A (p.Arg378Gln)
|
rs140621272
|
0.00121
|
NM_002900.3(RBP3):c.2619C>T (p.Ala873=)
|
rs146045906
|
0.00120
|
NM_001010898.4(SLC6A17):c.286+10A>G
|
rs187996451
|
0.00119
|
NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val)
|
rs141373204
|
0.00119
|
NM_002860.4(ALDH18A1):c.-29+10G>A
|
rs571140165
|
0.00119
|
NM_017739.4(POMGNT1):c.839G>A (p.Ser280Asn)
|
rs142485035
|
0.00119
|
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln)
|
rs147876778
|
0.00119
|
NM_001352514.2(HLCS):c.*3162T>C
|
rs552016201
|
0.00118
|
NM_005957.5(MTHFR):c.1556G>T (p.Arg519Leu)
|
rs45449298
|
0.00118
|
NM_206933.4(USH2A):c.1179A>G (p.Gln393=)
|
rs148447919
|
0.00118
|
NM_000016.6(ACADM):c.*133T>C
|
rs193140641
|
0.00117
|
NM_015702.3(MMADHC):c.578T>C (p.Val193Ala)
|
rs147370143
|
0.00117
|
NM_025136.4(OPA3):c.*2490C>T
|
rs11671670
|
0.00117
|
NM_000255.4(MMUT):c.393G>A (p.Gln131=)
|
rs145682249
|
0.00116
|
NM_000440.3(PDE6A):c.-57C>T
|
rs560865338
|
0.00116
|
NM_000532.5(PCCB):c.338G>A (p.Arg113Gln)
|
rs138246328
|
0.00116
|
NM_001698.3(AUH):c.*29G>A
|
rs200499826
|
0.00116
|
NM_001902.6(CTH):c.685T>C (p.Cys229Arg)
|
rs145785987
|
0.00116
|
NM_003748.4(ALDH4A1):c.135T>G (p.Pro45=)
|
rs147154947
|
0.00116
|
NM_006343.3(MERTK):c.960+9C>A
|
rs373198570
|
0.00116
|
NM_016247.4(IMPG2):c.*3514C>T
|
rs187040403
|
0.00116
|
NM_201548.5(CERKL):c.1073+11T>C
|
rs186100602
|
0.00116
|
NM_001352514.2(HLCS):c.*2163A>G
|
rs139776215
|
0.00115
|
NM_144631.6(ZNF513):c.749G>A (p.Arg250Gln)
|
rs141337532
|
0.00115
|
NM_003060.4(SLC22A5):c.1345T>G (p.Tyr449Asp)
|
rs11568514
|
0.00114
|
NM_001012720.2(RGR):c.*331C>A
|
rs563165735
|
0.00113
|
NM_000170.3(GLDC):c.2988G>C (p.Gln996His)
|
rs138640017
|
0.00112
|
NM_002860.4(ALDH18A1):c.1308G>A (p.Leu436=)
|
rs144816455
|
0.00112
|
NM_014049.5(ACAD9):c.928G>A (p.Val310Ile)
|
rs139073821
|
0.00112
|
NM_016335.6(PRODH):c.1363G>T (p.Ala455Ser)
|
rs1807467
|
0.00112
|
NM_020166.5(MCCC1):c.*6A>C
|
rs199827064
|
0.00112
|
NM_001081.4(CUBN):c.5967G>C (p.Val1989=)
|
rs139153235
|
0.00111
|
NM_001609.4(ACADSB):c.*285T>C
|
rs552366364
|
0.00111
|
NM_003322.6(TULP1):c.797G>T (p.Gly266Val)
|
rs150480343
|
0.00111
|
NM_012463.4(ATP6V0A2):c.*2929C>G
|
rs145602576
|
0.00111
|
NM_014384.3(ACAD8):c.1162G>A (p.Val388Met)
|
rs139792723
|
0.00111
|
NM_052845.4(MMAB):c.*1988C>T
|
rs183354300
|
0.00111
|
NM_000170.3(GLDC):c.498T>C (p.Pro166=)
|
rs150193069
|
0.00110
|
NM_201253.3(CRB1):c.2843-13C>T
|
rs199808176
|
0.00109
|
NM_000018.4(ACADVL):c.780G>A (p.Thr260=)
|
rs140871321
|
0.00108
|
NM_000137.4(FAH):c.565G>A (p.Val189Ile)
|
rs145389125
|
0.00108
|
NM_000687.4(AHCY):c.-63A>G
|
rs58942263
|
0.00108
|
NM_001142800.2(EYS):c.2039T>C (p.Ile680Thr)
|
rs376807770
|
0.00108
|
NM_001201543.2(FAM161A):c.*196A>C
|
rs545909945
|
0.00108
|
NM_003322.6(TULP1):c.1486G>A (p.Ala496Thr)
|
rs141980901
|
0.00107
|
NM_033100.4(CDHR1):c.547G>A (p.Val183Met)
|
rs142109115
|
0.00107
|
NM_000161.3(GCH1):c.*1628A>C
|
rs185031007
|
0.00106
|
NM_000353.3(TAT):c.*581G>A
|
rs141029428
|
0.00106
|
NM_000440.3(PDE6A):c.*1693A>C
|
rs116427816
|
0.00106
|
NM_001029883.3(PCARE):c.2502T>C (p.Pro834=)
|
rs184644658
|
0.00106
|
NM_001029883.3(PCARE):c.99G>A (p.Gln33=)
|
rs146455733
|
0.00106
|
NM_033100.4(CDHR1):c.2229G>A (p.Arg743=)
|
rs150969538
|
0.00106
|
NM_000159.4(GCDH):c.-35G>A
|
rs545594924
|
0.00105
|
NM_001081.4(CUBN):c.7509G>A (p.Pro2503=)
|
rs201001705
|
0.00105
|
NM_001297.5(CNGB1):c.878G>A (p.Ser293Asn)
|
rs146170855
|
0.00105
|
NM_002098.6(GUCA1B):c.*428C>T
|
rs555435194
|
0.00105
|
NM_206933.4(USH2A):c.12505A>G (p.Thr4169Ala)
|
rs113107803
|
0.00105
|
NM_001081.4(CUBN):c.10002G>C (p.Gln3334His)
|
rs147330179
|
0.00104
|
NM_020686.6(ABAT):c.*1416T>A
|
rs553436440
|
0.00104
|
NM_052845.4(MMAB):c.10T>C (p.Cys4Arg)
|
rs146668962
|
0.00104
|
NM_201253.3(CRB1):c.2103C>G (p.Pro701=)
|
rs144436610
|
0.00104
|
NM_000277.3(PAH):c.*19G>T
|
rs372637021
|
0.00103
|
NM_000329.3(RPE65):c.394G>A (p.Ala132Thr)
|
rs61752878
|
0.00103
|
NM_000554.6(CRX):c.*727C>T
|
rs1360823353
|
0.00103
|
NM_001029883.3(PCARE):c.*2558C>T
|
rs545805260
|
0.00103
|
NM_001352514.2(HLCS):c.*2444C>T
|
rs546201018
|
0.00103
|
NM_001918.5(DBT):c.*8083C>T
|
rs190798710
|
0.00103
|
NM_001918.5(DBT):c.*8663T>C
|
rs576300118
|
0.00103
|
NM_033100.4(CDHR1):c.*1770G>C
|
rs537201585
|
0.00103
|
NM_001029883.3(PCARE):c.*1785C>T
|
rs544366142
|
0.00102
|
NM_001875.5(CPS1):c.637G>A (p.Gly213Ser)
|
rs138392504
|
0.00102
|
NM_006915.3(RP2):c.*1926G>A
|
rs782390676
|
0.00102
|
NM_014336.5(AIPL1):c.234C>T (p.Ser78=)
|
rs62635774
|
0.00102
|
NM_025136.4(OPA3):c.*6688G>A
|
rs181576269
|
0.00102
|
NM_001482.3(GATM):c.69+13C>T
|
rs573273215
|
0.00101
|
NM_004279.3(PMPCB):c.1462C>T (p.Arg488Cys)
|
rs151236121
|
0.00101
|
NM_006623.4(PHGDH):c.1559C>A (p.Ala520Glu)
|
rs151275800
|
0.00101
|
NM_022132.5(MCCC2):c.*819G>A
|
rs565662004
|
0.00100
|
NM_058179.4(PSAT1):c.*670T>G
|
rs143748888
|
0.00100
|
NM_144639.3(UROC1):c.40C>T (p.Arg14Trp)
|
rs147828466
|
0.00100
|
NM_000187.3(HGD):c.-452G>T
|
rs142298361
|
0.00099
|
NM_000440.3(PDE6A):c.2568C>T (p.Ser856=)
|
rs147000954
|
0.00099
|
NM_001029883.3(PCARE):c.3114G>C (p.Val1038=)
|
rs140790266
|
0.00099
|
NM_002225.5(IVD):c.*1240T>A
|
rs146819701
|
0.00099
|
NM_004453.4(ETFDH):c.-97G>A
|
rs183609368
|
0.00099
|
NM_004937.3(CTNS):c.*2717A>G
|
rs567476347
|
0.00099
|
NM_054012.4(ASS1):c.420+13T>G
|
rs201883474
|
0.00099
|
NM_203288.2(RP9):c.*75C>T
|
rs369792814
|
0.00099
|
NM_000440.3(PDE6A):c.2549G>T (p.Gly850Val)
|
rs138315990
|
0.00098
|
NM_000687.4(AHCY):c.219+7C>G
|
rs200332864
|
0.00098
|
NM_001201543.2(FAM161A):c.*1368A>C
|
rs148352743
|
0.00098
|
NM_001609.4(ACADSB):c.*2529G>A
|
rs182831006
|
0.00098
|
NM_001609.4(ACADSB):c.*3390C>A
|
rs751677400
|
0.00098
|
NM_002032.3(FTH1):c.*312A>G
|
rs756884770
|
0.00098
|
NM_003124.5(SPR):c.305-12T>C
|
rs192766290
|
0.00098
|
NM_016247.4(IMPG2):c.335-13C>T
|
rs201277460
|
0.00098
|
NM_005763.4(AASS):c.2339A>C (p.Lys780Thr)
|
rs147475291
|
0.00097
|
NM_006907.4(PYCR1):c.334C>T (p.Arg112Trp)
|
rs147653673
|
0.00097
|
NM_032316.3(NICN1):c.*2307G>C
|
rs544461335
|
0.00097
|
NM_177972.3(TUB):c.1388-10T>G
|
rs150402974
|
0.00097
|
NM_000071.3(CBS):c.-136C>T
|
rs543595103
|
0.00096
|
NM_000126.4(ETFA):c.826A>C (p.Ile276Leu)
|
rs141200145
|
0.00096
|
NM_000282.4(PCCA):c.2172C>T (p.Leu724=)
|
rs150352833
|
0.00096
|
NM_000539.3(RHO):c.*1455T>C
|
rs552362456
|
0.00096
|
NM_001918.5(DBT):c.*1917C>A
|
rs886044957
|
0.00096
|
NM_002454.3(MTRR):c.869T>C (p.Ile290Thr)
|
rs144899305
|
0.00096
|
NM_004170.6(SLC1A1):c.*1215T>C
|
rs192121194
|
0.00096
|
NM_016247.4(IMPG2):c.*810C>T
|
rs536881753
|
0.00096
|
NM_025136.4(OPA3):c.*2518A>G
|
rs565012397
|
0.00096
|
NM_000170.3(GLDC):c.2964G>A (p.Arg988=)
|
rs146045718
|
0.00095
|
NM_000183.2(HADHB):c.-124C>G
|
rs575302805
|
0.00095
|
NM_000485.3(APRT):c.*152C>T
|
rs137965502
|
0.00095
|
NM_001354768.3(NRL):c.*1127T>C
|
rs113119768
|
0.00095
|
NM_002108.4(HAL):c.*789G>A
|
rs549057913
|
0.00095
|
NM_006623.4(PHGDH):c.*140A>G
|
rs587687027
|
0.00095
|
NM_000440.3(PDE6A):c.2038A>G (p.Met680Val)
|
rs148598583
|
0.00094
|
NM_001297.5(CNGB1):c.*1680T>C
|
rs560377423
|
0.00094
|
NM_014003.4(DHX38):c.55G>A (p.Asp19Asn)
|
rs145829337
|
0.00094
|
NM_000016.6(ACADM):c.994C>T (p.Leu332=)
|
rs138098371
|
0.00093
|
NM_001012720.2(RGR):c.318T>C (p.Ser106=)
|
rs143761967
|
0.00093
|
NM_001029883.3(PCARE):c.1545A>G (p.Gln515=)
|
rs200427237
|
0.00093
|
NM_001394090.1(CFAP92):c.3280+2171G>A
|
rs530217617
|
0.00093
|
NM_001876.4(CPT1A):c.853A>C (p.Lys285Gln)
|
rs77477448
|
0.00093
|
NM_002225.5(IVD):c.164A>T (p.Lys55Met)
|
rs145999491
|
0.00093
|
NM_022132.5(MCCC2):c.*552C>T
|
rs544574975
|
0.00093
|
NM_201548.5(CERKL):c.735G>C (p.Leu245=)
|
rs140898616
|
0.00093
|
NM_000137.4(FAH):c.1205G>A (p.Arg402His)
|
rs147796599
|
0.00092
|
NM_000440.3(PDE6A):c.498G>A (p.Val166=)
|
rs138274547
|
0.00092
|
NM_000709.4(BCKDHA):c.708C>T (p.Phe236=)
|
rs146932786
|
0.00092
|
NM_001609.4(ACADSB):c.*2174A>G
|
rs577027224
|
0.00092
|
NM_001918.5(DBT):c.*2074A>C
|
rs536515775
|
0.00092
|
NM_014049.5(ACAD9):c.453+8A>G
|
rs199919500
|
0.00092
|
NM_014251.3(SLC25A13):c.1311+3A>G
|
rs180844972
|
0.00092
|
NM_025136.4(OPA3):c.*4949G>A
|
rs544881797
|
0.00092
|
NM_025136.4(OPA3):c.*5357G>A
|
rs549141863
|
0.00092
|
NM_172250.3(MMAA):c.*342A>G
|
rs886059093
|
0.00092
|
NM_000254.3(MTR):c.2245C>T (p.Pro749Ser)
|
rs142250261
|
0.00091
|
NM_000277.3(PAH):c.158G>A (p.Arg53His)
|
rs118092776
|
0.00091
|
NM_001029883.3(PCARE):c.2424G>A (p.Leu808=)
|
rs371909714
|
0.00091
|
NM_001080.3(ALDH5A1):c.354+14G>A
|
rs572861590
|
0.00091
|
NM_001081.4(CUBN):c.10245C>T (p.Tyr3415=)
|
rs147730705
|
0.00091
|
NM_001081.4(CUBN):c.9078C>T (p.Phe3026=)
|
rs140524729
|
0.00091
|
NM_001352514.2(HLCS):c.331-7170T>A
|
rs181989786
|
0.00091
|
NM_052845.4(MMAB):c.*2023C>T
|
rs546885397
|
0.00091
|
NM_177550.5(SLC13A5):c.231+6C>A
|
rs138834680
|
0.00091
|
NM_000026.4(ADSL):c.895A>G (p.Met299Val)
|
rs34396910
|
0.00090
|
NM_000048.4(ASL):c.*395C>T
|
rs140184651
|
0.00090
|
NM_001081.4(CUBN):c.3495C>T (p.Cys1165=)
|
rs143531829
|
0.00090
|
NM_002108.4(HAL):c.*547G>T
|
rs144002506
|
0.00090
|
NM_005589.4(ALDH6A1):c.194A>G (p.Asn65Ser)
|
rs111975186
|
0.00090
|
NM_006269.2(RP1):c.-51A>G
|
rs572206979
|
0.00090
|
NM_033100.4(CDHR1):c.*1467T>A
|
rs4933979
|
0.00090
|
NM_000187.3(HGD):c.-383C>G
|
rs148732655
|
0.00089
|
NM_001081.4(CUBN):c.3356T>C (p.Leu1119Ser)
|
rs141164907
|
0.00089
|
NM_001379270.1(CNGA1):c.*274C>T
|
rs141978020
|
0.00089
|
NM_001482.3(GATM):c.*699A>C
|
rs750817737
|
0.00089
|
NM_003748.4(ALDH4A1):c.1261T>C (p.Cys421Arg)
|
rs149414160
|
0.00089
|
NM_012463.4(ATP6V0A2):c.*1681G>A
|
rs575925916
|
0.00089
|
NM_012463.4(ATP6V0A2):c.*577C>T
|
rs577796265
|
0.00089
|
NM_014251.3(SLC25A13):c.-115G>T
|
rs543933601
|
0.00089
|
NM_206933.4(USH2A):c.6670G>T (p.Gly2224Cys)
|
rs149553844
|
0.00089
|
NM_000019.3(ACAT1):c.-70T>A
|
rs566741161
|
0.00088
|
NM_000161.3(GCH1):c.*1044G>A
|
rs143961472
|
0.00088
|
NM_000276.4(OCRL):c.40-5C>T
|
rs201211377
|
0.00088
|
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu)
|
rs118169528
|
0.00088
|
NM_000883.4(IMPDH1):c.1598A>G (p.Gln533Arg)
|
rs144498273
|
0.00088
|
NM_001029883.3(PCARE):c.*2442G>A
|
rs543543846
|
0.00088
|
NM_001297.5(CNGB1):c.*116G>A
|
rs182224027
|
0.00088
|
NM_004183.4(BEST1):c.482-15C>T
|
rs201010315
|
0.00088
|
NM_006017.3(PROM1):c.714A>G (p.Gly238=)
|
rs201662148
|
0.00088
|
NM_025136.4(OPA3):c.*1238G>A
|
rs187216413
|
0.00088
|
NM_177965.4(CFAP418):c.*2498A>G
|
rs554334722
|
0.00088
|
NM_201548.5(CERKL):c.*1207C>G
|
rs189163426
|
0.00088
|
NM_206933.4(USH2A):c.3157+12C>T
|
rs199853422
|
0.00088
|
NM_000045.4(ARG1):c.62G>A (p.Arg21Gln)
|
rs144994895
|
0.00087
|
NM_000282.4(PCCA):c.2040+11dup
|
rs779884567
|
0.00087
|
NM_001352514.2(HLCS):c.1695C>T (p.Leu565=)
|
rs138209330
|
0.00087
|
NM_001352514.2(HLCS):c.865G>A (p.Val289Ile)
|
rs149291867
|
0.00087
|
NM_014249.4(NR2E3):c.230G>A (p.Arg77Gln)
|
rs186714117
|
0.00087
|
NM_000329.3(RPE65):c.1129-14A>G
|
rs113329701
|
0.00086
|
NM_000539.3(RHO):c.*1599G>A
|
rs576980794
|
0.00086
|
NM_001081.4(CUBN):c.10575C>T (p.Pro3525=)
|
rs145569358
|
0.00086
|
NM_001370658.1(BTD):c.1041C>T (p.Gly347=)
|
rs142421934
|
0.00086
|
NM_004170.6(SLC1A1):c.1227T>C (p.Ala409=)
|
rs147404292
|
0.00086
|
NM_004937.3(CTNS):c.*1366C>G
|
rs558637146
|
0.00086
|
NM_005589.4(ALDH6A1):c.145G>A (p.Val49Ile)
|
rs140308322
|
0.00086
|
NM_006343.3(MERTK):c.1262G>A (p.Arg421Gln)
|
rs138908058
|
0.00086
|
NM_025136.4(OPA3):c.*677C>T
|
rs560749495
|
0.00086
|
NM_183050.4(BCKDHB):c.633G>C (p.Lys211Asn)
|
rs143427811
|
0.00086
|
NM_003060.4(SLC22A5):c.934A>G (p.Ile312Val)
|
rs77300588
|
0.00085
|
NM_012463.4(ATP6V0A2):c.1189+12G>T
|
rs377235629
|
0.00085
|
NM_025136.4(OPA3):c.*6436_*6437insG
|
rs886054506
|
0.00085
|
NM_052845.4(MMAB):c.394T>C (p.Cys132Arg)
|
rs147457956
|
0.00085
|
NM_000326.5(RLBP1):c.545T>G (p.Phe182Cys)
|
rs142244640
|
0.00084
|
NM_001201543.2(FAM161A):c.*1136G>T
|
rs191936453
|
0.00084
|
NM_001902.6(CTH):c.*630G>A
|
rs543839341
|
0.00084
|
NM_004744.5(LRAT):c.*2347C>T
|
rs528985596
|
0.00084
|
NM_005327.7(HADH):c.*377G>A
|
rs148809781
|
0.00084
|
NM_000071.3(CBS):c.*18G>A
|
rs200259659
|
0.00083
|
NM_000282.4(PCCA):c.1065+5C>T
|
rs201597816
|
0.00083
|
NM_001142800.2(EYS):c.4891C>T (p.Pro1631Ser)
|
rs200935518
|
0.00083
|
NM_001918.5(DBT):c.*3521G>A
|
rs754461561
|
0.00083
|
NM_006017.3(PROM1):c.*1149A>G
|
rs543722299
|
0.00083
|
NM_006623.4(PHGDH):c.682G>T (p.Gly228Trp)
|
rs139063843
|
0.00083
|
NM_014251.3(SLC25A13):c.*310C>T
|
rs530869704
|
0.00083
|
NM_014252.4(SLC25A15):c.*1602T>G
|
rs1003165090
|
0.00083
|
NM_016247.4(IMPG2):c.*3949C>T
|
rs190218454
|
0.00083
|
NM_000326.5(RLBP1):c.303C>T (p.Arg101=)
|
rs144254383
|
0.00082
|
NM_022132.5(MCCC2):c.1433C>G (p.Ala478Gly)
|
rs35068278
|
0.00082
|
NM_033100.4(CDHR1):c.*3049T>A
|
rs144684663
|
0.00082
|
NM_000159.4(GCDH):c.471C>T (p.Ser157=)
|
rs146682905
|
0.00081
|
NM_000254.3(MTR):c.1862A>G (p.Asp621Gly)
|
rs61736440
|
0.00081
|
NM_000440.3(PDE6A):c.343G>A (p.Val115Ile)
|
rs147159579
|
0.00081
|
NM_001012720.2(RGR):c.454C>A (p.His152Asn)
|
rs150808273
|
0.00081
|
NM_001012720.2(RGR):c.493G>T (p.Asp165Tyr)
|
rs149516779
|
0.00081
|
NM_001080.3(ALDH5A1):c.*942A>G
|
rs750171065
|
0.00081
|
NM_001081.4(CUBN):c.7210+9A>G
|
rs117711403
|
0.00081
|
NM_001142800.2(EYS):c.2562C>T (p.Asp854=)
|
rs188011013
|
0.00081
|
NM_001142800.2(EYS):c.6284C>T (p.Pro2095Leu)
|
rs200374024
|
0.00081
|
NM_001875.5(CPS1):c.2192+6A>T
|
rs201058019
|
0.00081
|
NM_001876.4(CPT1A):c.2142G>A (p.Pro714=)
|
rs150792109
|
0.00081
|
NM_001876.4(CPT1A):c.961G>A (p.Glu321Lys)
|
rs114030714
|
0.00081
|
NM_004577.4(PSPH):c.455C>T (p.Thr152Ile)
|
rs147304638
|
0.00081
|
NM_005589.4(ALDH6A1):c.*1011C>A
|
rs181399266
|
0.00081
|
NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys)
|
rs201617713
|
0.00081
|
NM_020166.5(MCCC1):c.*45A>T
|
rs186406584
|
0.00081
|
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly)
|
rs41302239
|
0.00081
|
NM_000108.5(DLD):c.788G>A (p.Arg263His)
|
rs145670503
|
0.00080
|
NM_000440.3(PDE6A):c.765C>T (p.Ile255=)
|
rs141300510
|
0.00080
|
NM_000532.5(PCCB):c.882C>T (p.Pro294=)
|
rs142730126
|
0.00080
|
NM_001370348.2(PHF3):c.*6610A>G
|
rs572403267
|
0.00080
|
NM_001902.6(CTH):c.*632G>A
|
rs565236096
|
0.00080
|
NM_054012.4(ASS1):c.*223A>T
|
rs187259733
|
0.00080
|
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val)
|
rs35818432
|
0.00080
|
NM_000016.6(ACADM):c.645T>A (p.Ala215=)
|
rs147395095
|
0.00079
|
NM_000126.4(ETFA):c.533C>G (p.Thr178Arg)
|
rs140169311
|
0.00079
|
NM_000255.4(MMUT):c.1762C>T (p.Arg588Cys)
|
rs140727018
|
0.00079
|
NM_000283.4(PDE6B):c.794G>A (p.Arg265Gln)
|
rs144562730
|
0.00079
|
NM_000322.5(PRPH2):c.866C>T (p.Ser289Leu)
|
rs62645939
|
0.00079
|
NM_001379270.1(CNGA1):c.360C>T (p.Asn120=)
|
rs147591591
|
0.00079
|
NM_001875.5(CPS1):c.*187C>T
|
rs543723956
|
0.00079
|
NM_002900.3(RBP3):c.120C>T (p.Cys40=)
|
rs373417235
|
0.00079
|
NM_003060.4(SLC22A5):c.1380C>T (p.Asn460=)
|
rs149521997
|
0.00079
|
NM_004937.3(CTNS):c.*2662G>A
|
rs534360650
|
0.00079
|
NM_000170.3(GLDC):c.2863G>A (p.Val955Ile)
|
rs148540696
|
0.00078
|
NM_000277.3(PAH):c.*699C>T
|
rs189466448
|
0.00078
|
NM_000277.3(PAH):c.*735T>C
|
rs185081299
|
0.00078
|
NM_001002755.4(NFU1):c.166+8T>A
|
rs199927640
|
0.00078
|
NM_001918.5(DBT):c.327C>T (p.Thr109=)
|
rs138796800
|
0.00078
|
NM_004170.6(SLC1A1):c.*1545T>A
|
rs570678801
|
0.00078
|
NM_004577.4(PSPH):c.-339T>C
|
rs535243315
|
0.00078
|
NM_014251.3(SLC25A13):c.*909C>G
|
rs550323481
|
0.00078
|
NM_016247.4(IMPG2):c.*3774G>A
|
rs773704860
|
0.00078
|
NM_172250.3(MMAA):c.*192G>A
|
rs188845060
|
0.00078
|
NM_000156.6(GAMT):c.581T>C (p.Val194Ala)
|
rs147739199
|
0.00077
|
NM_000283.4(PDE6B):c.1401+4C>T
|
rs113246945
|
0.00077
|
NM_002454.3(MTRR):c.446C>T (p.Ala149Val)
|
rs142714881
|
0.00077
|
NM_005327.7(HADH):c.*600C>T
|
rs544321475
|
0.00077
|
NM_014252.4(SLC25A15):c.564C>T (p.Phe188=)
|
rs141028076
|
0.00077
|
NM_000341.4(SLC3A1):c.788G>C (p.Ser263Thr)
|
rs139310305
|
0.00076
|
NM_000532.5(PCCB):c.911C>T (p.Thr304Ile)
|
rs147538201
|
0.00076
|
NM_001080.3(ALDH5A1):c.293C>G (p.Ala98Gly)
|
rs535825137
|
0.00076
|
NM_001142800.2(EYS):c.3489T>A (p.Asn1163Lys)
|
rs150951106
|
0.00076
|
NM_004453.4(ETFDH):c.832-10T>G
|
rs200911913
|
0.00076
|
NM_201548.5(CERKL):c.1523C>T (p.Ser508Leu)
|
rs146913105
|
0.00076
|
NM_000322.5(PRPH2):c.*351G>A
|
rs551934443
|
0.00075
|
NM_001029883.3(PCARE):c.*1157G>A
|
rs369999271
|
0.00075
|
NM_001142800.2(EYS):c.3694A>T (p.Ile1232Phe)
|
rs190009374
|
0.00075
|
NM_001297.5(CNGB1):c.3135C>T (p.Asn1045=)
|
rs539304668
|
0.00075
|
NM_006343.3(MERTK):c.1261C>T (p.Arg421Trp)
|
rs142985827
|
0.00075
|
NM_014251.3(SLC25A13):c.1910T>C (p.Val637Ala)
|
rs148962110
|
0.00075
|
NM_020166.5(MCCC1):c.1792C>A (p.Leu598Met)
|
rs138480247
|
0.00075
|
NM_000532.5(PCCB):c.-34G>A
|
rs372649775
|
0.00074
|
NM_001352514.2(HLCS):c.1331G>A (p.Arg444Gln)
|
rs146030669
|
0.00074
|
NM_004170.6(SLC1A1):c.311T>C (p.Ile104Thr)
|
rs147832850
|
0.00074
|
NM_004453.4(ETFDH):c.1049G>A (p.Arg350Gln)
|
rs139306043
|
0.00074
|
NM_005327.4(HADH):c.-51delC
|
rs574132278
|
0.00074
|
NM_006915.3(RP2):c.*1947C>G
|
rs781995791
|
0.00074
|
NM_018706.7(DHTKD1):c.488G>A (p.Arg163Gln)
|
rs78189904
|
0.00074
|
NM_000254.3(MTR):c.1141G>A (p.Ala381Thr)
|
rs144777709
|
0.00073
|
NM_000274.4(OAT):c.1224T>C (p.His408=)
|
rs201864147
|
0.00073
|
NM_000283.4(PDE6B):c.1083C>T (p.Ser361=)
|
rs142802752
|
0.00073
|
NM_000341.4(SLC3A1):c.1126G>A (p.Gly376Ser)
|
rs143068960
|
0.00073
|
NM_000532.5(PCCB):c.429+7G>A
|
rs201986472
|
0.00073
|
NM_001029883.3(PCARE):c.*2595A>G
|
rs780734864
|
0.00073
|
NM_001379270.1(CNGA1):c.-59C>T
|
rs752798829
|
0.00073
|
NM_003060.4(SLC22A5):c.279G>C (p.Ser93=)
|
rs377734902
|
0.00073
|
NM_004183.4(BEST1):c.1519T>C (p.Ser507Pro)
|
rs141071579
|
0.00073
|
NM_006269.2(RP1):c.228C>T (p.Leu76=)
|
rs142600056
|
0.00073
|
NM_014014.5(SNRNP200):c.*331G>C
|
rs557818805
|
0.00073
|
NM_172250.3(MMAA):c.966A>G (p.Pro322=)
|
rs150692463
|
0.00073
|
NM_206933.4(USH2A):c.2001C>T (p.His667=)
|
rs142870255
|
0.00073
|
NM_000481.4(AMT):c.354G>A (p.Leu118=)
|
rs145194293
|
0.00072
|
NM_001010867.4(IBA57):c.11C>T (p.Ala4Val)
|
rs199781237
|
0.00072
|
NM_004937.3(CTNS):c.*1899G>A
|
rs563849197
|
0.00072
|
NM_004937.3(CTNS):c.695G>A (p.Arg232His)
|
rs142641674
|
0.00072
|
NM_004937.3(CTNS):c.970G>A (p.Asp324Asn)
|
rs140326392
|
0.00072
|
NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp)
|
rs200483477
|
0.00072
|
NM_016247.4(IMPG2):c.1169G>A (p.Arg390His)
|
rs139255481
|
0.00072
|
NM_153265.3(EML3):c.-298C>T
|
rs866691973
|
0.00072
|
NM_177965.4(CFAP418):c.*2009C>T
|
rs534647880
|
0.00072
|
NM_000182.5(HADHA):c.*355C>T
|
rs539549041
|
0.00071
|
NM_000282.4(PCCA):c.1896A>G (p.Thr632=)
|
rs61760965
|
0.00071
|
NM_000440.3(PDE6A):c.940A>C (p.Asn314His)
|
rs150755165
|
0.00071
|
NM_001010867.4(IBA57):c.599C>T (p.Thr200Ile)
|
rs149136930
|
0.00071
|
NM_001142800.2(EYS):c.2109C>T (p.Tyr703=)
|
rs377090818
|
0.00071
|
NM_001270447.2(ACADVL):c.52A>G (p.Ile18Val)
|
rs730880036
|
0.00071
|
NM_001297.5(CNGB1):c.2747G>A (p.Arg916His)
|
rs137853902
|
0.00071
|
NM_001379270.1(CNGA1):c.483T>C (p.Tyr161=)
|
rs201341924
|
0.00071
|
NM_002108.4(HAL):c.1472G>T (p.Gly491Val)
|
rs141635447
|
0.00071
|
NM_002900.3(RBP3):c.927C>T (p.Ala309=)
|
rs75452094
|
0.00071
|
NM_004937.3(CTNS):c.*2593A>T
|
rs549150113
|
0.00071
|
NM_020686.6(ABAT):c.*435G>A
|
rs572396439
|
0.00071
|
NM_205861.3(DHDDS):c.*515G>T
|
rs747837144
|
0.00071
|
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn)
|
rs146824138
|
0.00071
|
NM_000274.4(OAT):c.48C>T (p.Arg16=)
|
rs143526711
|
0.00070
|
NM_000283.4(PDE6B):c.852+12G>A
|
rs201676629
|
0.00070
|
NM_001080.3(ALDH5A1):c.*2852C>G
|
rs560247554
|
0.00070
|
NM_001081.4(CUBN):c.10105A>G (p.Ser3369Gly)
|
rs145023719
|
0.00070
|
NM_001081.4(CUBN):c.8399C>T (p.Thr2800Ile)
|
rs141737312
|
0.00070
|
NM_001379270.1(CNGA1):c.545+11T>C
|
rs187802155
|
0.00070
|
NM_002860.4(ALDH18A1):c.2160C>T (p.Phe720=)
|
rs374052426
|
0.00070
|
NM_003748.4(ALDH4A1):c.199G>A (p.Val67Met)
|
rs141327098
|
0.00070
|
NM_006017.3(PROM1):c.1491G>T (p.Leu497Phe)
|
rs200520976
|
0.00070
|
NM_006623.4(PHGDH):c.*165_*166insGTAG
|
rs140037378
|
0.00070
|
NM_025136.4(OPA3):c.*3350T>G
|
rs181719786
|
0.00070
|
NM_033100.4(CDHR1):c.*935C>T
|
rs560033657
|
0.00070
|
NM_000277.3(PAH):c.30C>G (p.Gly10=)
|
rs1801145
|
0.00069
|
NM_000440.3(PDE6A):c.784G>A (p.Ala262Thr)
|
rs148938083
|
0.00069
|
NM_001243279.3(ACSF3):c.*4G>A
|
rs184912682
|
0.00069
|
NM_002108.4(HAL):c.322C>T (p.Arg108Trp)
|
rs143854097
|
0.00069
|
NM_014270.5(SLC7A9):c.1059C>T (p.Pro353=)
|
rs139388814
|
0.00069
|
NM_001029883.3(PCARE):c.*1746G>A
|
rs577941529
|
0.00068
|
NM_001077620.3(PRCD):c.*932C>T
|
rs117784164
|
0.00068
|
NM_001142800.2(EYS):c.5615T>C (p.Ile1872Thr)
|
rs201333192
|
0.00068
|
NM_001242957.3(MAK):c.359-13G>A
|
rs76972797
|
0.00068
|
NM_005271.5(GLUD1):c.*1501G>C
|
rs768450394
|
0.00068
|
NM_005957.5(MTHFR):c.667G>A (p.Asp223Asn)
|
rs150847674
|
0.00068
|
NM_006017.3(PROM1):c.*189A>G
|
rs537324748
|
0.00068
|
NM_015662.3(IFT172):c.899G>A (p.Arg300Gln)
|
rs146332658
|
0.00068
|
NM_016247.4(IMPG2):c.392G>A (p.Arg131His)
|
rs147901568
|
0.00068
|
NM_020166.5(MCCC1):c.1337C>T (p.Ala446Val)
|
rs144182725
|
0.00068
|
NM_153006.3(NAGS):c.1302C>T (p.Pro434=)
|
rs150004962
|
0.00068
|
NM_000071.3(CBS):c.829-13G>A
|
rs201106576
|
0.00067
|
NM_000137.4(FAH):c.553+10C>T
|
rs201051426
|
0.00067
|
NM_000159.4(GCDH):c.*101G>A
|
rs140251161
|
0.00067
|
NM_000687.4(AHCY):c.1008C>T (p.Ile336=)
|
rs139344907
|
0.00067
|
NM_001031710.3(KLHL7):c.-145C>T
|
rs545540476
|
0.00067
|
NM_001081.4(CUBN):c.*782G>A
|
rs570478432
|
0.00067
|
NM_001142800.2(EYS):c.7056-15T>A
|
rs139056492
|
0.00067
|
NM_001243279.3(ACSF3):c.823-4G>C
|
rs558325262
|
0.00067
|
NM_001278293.3(ARL6):c.*470G>A
|
rs184213166
|
0.00067
|
NM_002225.5(IVD):c.*290dup
|
rs529793013
|
0.00067
|
NM_015702.3(MMADHC):c.455C>G (p.Thr152Arg)
|
rs146795035
|
0.00067
|
NM_174878.3(CLRN1):c.433+1061A>T
|
rs567709615
|
0.00067
|
NM_201253.3(CRB1):c.3397G>A (p.Val1133Met)
|
rs116246250
|
0.00067
|
NM_206933.4(USH2A):c.13361T>A (p.Val4454Asp)
|
rs148033154
|
0.00067
|
NM_000018.4(ACADVL):c.1567G>A (p.Gly523Arg)
|
rs139425622
|
0.00066
|
NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys)
|
rs61748549
|
0.00066
|
NM_000532.5(PCCB):c.*91C>A
|
rs115533065
|
0.00066
|
NM_001080.3(ALDH5A1):c.*563G>A
|
rs528167769
|
0.00066
|
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser)
|
rs201652272
|
0.00066
|
NM_001297.5(CNGB1):c.3584C>G (p.Ser1195Cys)
|
rs201186180
|
0.00066
|
NM_001698.3(AUH):c.598+10A>C
|
rs186203318
|
0.00066
|
NM_002108.4(HAL):c.1609T>C (p.Trp537Arg)
|
rs150591434
|
0.00066
|
NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser)
|
rs139203363
|
0.00066
|
NM_004577.4(PSPH):c.115G>A (p.Gly39Ser)
|
rs147077540
|
0.00066
|
NM_014049.5(ACAD9):c.1221A>G (p.Thr407=)
|
rs139048558
|
0.00066
|
NM_020166.5(MCCC1):c.1492C>T (p.Leu498Phe)
|
rs139926581
|
0.00066
|
NM_000554.6(CRX):c.*2113A>G
|
rs555800382
|
0.00065
|
NM_001297.5(CNGB1):c.*1018A>C
|
rs146438867
|
0.00065
|
NM_001875.5(CPS1):c.1714G>A (p.Asp572Asn)
|
rs142916171
|
0.00065
|
NM_003748.4(ALDH4A1):c.369C>G (p.Asp123Glu)
|
rs147600006
|
0.00065
|
NM_006017.3(PROM1):c.1928C>G (p.Ala643Gly)
|
rs62617075
|
0.00065
|
NM_025136.4(OPA3):c.*698G>A
|
rs561748985
|
0.00065
|
NM_000026.4(ADSL):c.403-4G>A
|
rs373652667
|
0.00064
|
NM_000071.3(CBS):c.296T>A (p.Phe99Tyr)
|
rs112029370
|
0.00064
|
NM_001081.4(CUBN):c.4669C>T (p.Leu1557Phe)
|
rs140970422
|
0.00064
|
NM_001297.5(CNGB1):c.*1637C>T
|
rs192644670
|
0.00064
|
NM_001875.5(CPS1):c.1039G>T (p.Ala347Ser)
|
rs148584272
|
0.00064
|
NM_006269.2(RP1):c.5296A>C (p.Asn1766His)
|
rs147009600
|
0.00064
|
NM_012213.3(MLYCD):c.13G>A (p.Gly5Arg)
|
rs745604653
|
0.00064
|
NM_020166.5(MCCC1):c.984A>T (p.Lys328Asn)
|
rs142513139
|
0.00064
|
NM_033100.4(CDHR1):c.*2357G>A
|
rs140766042
|
0.00064
|
NM_144596.4(TTC8):c.1327C>T (p.Arg443Trp)
|
rs140698625
|
0.00064
|
NM_206933.4(USH2A):c.4627+801C>G
|
rs41277222
|
0.00064
|
NM_212552.3(BOLA3):c.-35C>T
|
rs761339384
|
0.00064
|
NM_000320.3(QDPR):c.600C>G (p.Ser200Arg)
|
rs112242659
|
0.00063
|
NM_001029883.3(PCARE):c.*283G>A
|
rs189553973
|
0.00063
|
NM_001482.3(GATM):c.407C>T (p.Thr136Met)
|
rs148564534
|
0.00063
|
NM_003060.4(SLC22A5):c.1579G>C (p.Val527Leu)
|
rs145792427
|
0.00063
|
NM_003748.4(ALDH4A1):c.*367C>T
|
rs142571888
|
0.00063
|
NM_016247.4(IMPG2):c.1582A>G (p.Ile528Val)
|
rs142710242
|
0.00063
|
NM_054012.3(ASS1):c.-171G>A
|
rs886063529
|
0.00063
|
NM_201253.3(CRB1):c.3750-3T>C
|
rs187937543
|
0.00063
|
NM_000709.4(BCKDHA):c.1191C>T (p.Ala397=)
|
rs374403946
|
0.00062
|
NM_001875.5(CPS1):c.*427C>T
|
rs111328810
|
0.00062
|
NM_014748.4(SNX17):c.*797G>A
|
rs148848066
|
0.00062
|
NM_016247.4(IMPG2):c.-131G>A
|
rs537403217
|
0.00062
|
NM_022367.4(SEMA4A):c.1451G>C (p.Gly484Ala)
|
rs148744804
|
0.00062
|
NM_000018.4(ACADVL):c.1284G>A (p.Lys428=)
|
rs35501596
|
0.00061
|
NM_000159.4(GCDH):c.1261G>A (p.Ala421Thr)
|
rs151201155
|
0.00061
|
NM_000170.3(GLDC):c.2730G>A (p.Ser910=)
|
rs144937031
|
0.00061
|
NM_000187.3(HGD):c.*210G>A
|
rs768955353
|
0.00061
|
NM_000283.4(PDE6B):c.1218C>T (p.Asp406=)
|
rs148190219
|
0.00061
|
NM_000709.4(BCKDHA):c.*244C>T
|
rs749083860
|
0.00061
|
NM_001029883.3(PCARE):c.103G>A (p.Gly35Arg)
|
rs187178339
|
0.00061
|
NM_001142800.2(EYS):c.1459+5C>T
|
rs200387978
|
0.00061
|
NM_001243279.3(ACSF3):c.633C>T (p.Gly211=)
|
rs140941507
|
0.00061
|
NM_001352514.2(HLCS):c.331-7076C>T
|
rs541806392
|
0.00061
|
NM_002900.3(RBP3):c.126G>A (p.Pro42=)
|
rs146175391
|
0.00061
|
NM_003060.4(SLC22A5):c.1441G>A (p.Val481Ile)
|
rs11568513
|
0.00061
|
NM_004744.5(LRAT):c.403G>T (p.Ala135Ser)
|
rs139819099
|
0.00061
|
NM_006899.5(IDH3B):c.*253T>C
|
rs140155681
|
0.00061
|
NM_014049.5(ACAD9):c.1022T>C (p.Leu341Ser)
|
rs141874052
|
0.00061
|
NM_014252.4(SLC25A15):c.*2071C>T
|
rs757326840
|
0.00061
|
NM_015629.4(PRPF31):c.-9+3G>A
|
rs762066202
|
0.00061
|
NM_020166.5(MCCC1):c.1731+6C>A
|
rs369754994
|
0.00061
|
NM_058179.4(PSAT1):c.*496A>G
|
rs553854445
|
0.00061
|
NM_000554.6(CRX):c.28C>G (p.His10Asp)
|
rs139340178
|
0.00060
|
NM_001029883.3(PCARE):c.*413G>A
|
rs536100561
|
0.00060
|
NM_001609.4(ACADSB):c.443C>T (p.Thr148Ile)
|
rs58639322
|
0.00060
|
NM_001875.5(CPS1):c.713G>A (p.Arg238Gln)
|
rs147294932
|
0.00060
|
NM_014251.3(SLC25A13):c.1230+11T>C
|
rs201352939
|
0.00060
|
NM_000329.3(RPE65):c.48T>C (p.Phe16=)
|
rs62642581
|
0.00059
|
NM_000440.3(PDE6A):c.1408-11G>A
|
rs201527437
|
0.00059
|
NM_001352514.2(HLCS):c.*2814C>T
|
rs146199781
|
0.00059
|
NM_002454.3(MTRR):c.1021G>A (p.Val341Ile)
|
rs74790259
|
0.00059
|
NM_003060.4(SLC22A5):c.414C>T (p.Asp138=)
|
rs150705788
|
0.00059
|
NM_012463.4(ATP6V0A2):c.*1599C>T
|
rs534414817
|
0.00059
|
NM_014336.5(AIPL1):c.*1527T>G
|
rs549099597
|
0.00059
|
NM_025136.4(OPA3):c.*742A>T
|
rs979052921
|
0.00059
|
NM_032119.4(ADGRV1):c.1837C>A (p.Gln613Lys)
|
rs199587998
|
0.00059
|
NM_144596.4(TTC8):c.*83A>G
|
rs147325843
|
0.00059
|
NM_144596.4(TTC8):c.330-15T>A
|
rs187484893
|
0.00059
|
NM_177965.4(CFAP418):c.*1870T>A
|
rs767822765
|
0.00059
|
NM_206933.4(USH2A):c.15298-1176A>G
|
rs144467375
|
0.00059
|
NM_000018.4(ACADVL):c.1824C>T (p.Ile608=)
|
rs146115467
|
0.00058
|
NM_000182.5(HADHA):c.1212G>C (p.Val404=)
|
rs116396996
|
0.00058
|
NM_000531.6(OTC):c.298+5G>C
|
rs72554348
|
0.00058
|
NM_001002755.4(NFU1):c.167-13T>G
|
rs181762580
|
0.00058
|
NM_001482.3(GATM):c.*27C>G
|
rs200143728
|
0.00058
|
NM_001609.4(ACADSB):c.1228+8G>C
|
rs202191462
|
0.00058
|
NM_001875.5(CPS1):c.2025C>T (p.Ala675=)
|
rs143913650
|
0.00058
|
NM_006017.3(PROM1):c.2284A>G (p.Ser762Gly)
|
rs202029748
|
0.00058
|
NM_014270.5(SLC7A9):c.1404G>A (p.Pro468=)
|
rs141142633
|
0.00058
|
NM_020166.5(MCCC1):c.254A>C (p.Asn85Thr)
|
rs148616219
|
0.00058
|
NM_032601.4(MCEE):c.312T>G (p.Arg104=)
|
rs142838031
|
0.00058
|
NM_199355.4(ADAMTS18):c.2752A>G (p.Lys918Glu)
|
rs138435590
|
0.00058
|
NM_206933.4(USH2A):c.485+12T>C
|
rs201857884
|
0.00058
|
NM_000048.4(ASL):c.399G>A (p.Ser133=)
|
rs141584041
|
0.00057
|
NM_000277.3(PAH):c.289A>C (p.Ile97Leu)
|
rs142516271
|
0.00057
|
NM_000281.4(PCBD1):c.-27C>G
|
rs573430589
|
0.00057
|
NM_000440.3(PDE6A):c.*2138G>A
|
rs756742673
|
0.00057
|
NM_000481.4(AMT):c.*678C>G
|
rs779703869
|
0.00057
|
NM_001002755.4(NFU1):c.*103G>A
|
rs774104725
|
0.00057
|
NM_001142800.2(EYS):c.-521C>T
|
rs769167992
|
0.00057
|
NM_183050.4(BCKDHB):c.*1603G>A
|
rs143744799
|
0.00057
|
NM_201253.3(CRB1):c.*412T>C
|
rs564341986
|
0.00057
|
NM_000017.4(ACADS):c.669G>A (p.Thr223=)
|
rs17848089
|
0.00056
|
NM_000071.3(CBS):c.215A>T (p.Lys72Ile)
|
rs192232907
|
0.00056
|
NM_000283.4(PDE6B):c.2470A>G (p.Lys824Glu)
|
rs138682290
|
0.00056
|
NM_000341.4(SLC3A1):c.1767C>T (p.Ile589=)
|
rs142141929
|
0.00056
|
NM_000360.4(TH):c.1398C>T (p.Ile466=)
|
rs118175546
|
0.00056
|
NM_001142800.2(EYS):c.740C>T (p.Pro247Leu)
|
rs367977860
|
0.00056
|
NM_001352514.2(HLCS):c.*2545C>A
|
rs180866987
|
0.00056
|
NM_003060.4(SLC22A5):c.1142T>C (p.Met381Thr)
|
rs149730454
|
0.00056
|
NM_004577.4(PSPH):c.-357C>T
|
rs745752622
|
0.00056
|
NM_006269.2(RP1):c.4563C>T (p.Asn1521=)
|
rs150524359
|
0.00056
|
NM_014384.3(ACAD8):c.*622C>T
|
rs146349594
|
0.00056
|
NM_018706.7(DHTKD1):c.1300G>A (p.Gly434Ser)
|
rs145036232
|
0.00056
|
NM_020166.5(MCCC1):c.1942G>A (p.Gly648Ser)
|
rs149017703
|
0.00056
|
NM_025136.4(OPA3):c.*6674T>C
|
rs534603782
|
0.00056
|
NM_033100.4(CDHR1):c.1849G>A (p.Ala617Thr)
|
rs141250715
|
0.00056
|
NM_058179.4(PSAT1):c.445G>A (p.Val149Met)
|
rs142975997
|
0.00056
|
NM_205861.3(DHDDS):c.*480A>G
|
rs552046225
|
0.00056
|
NM_206933.4(USH2A):c.1961T>C (p.Leu654Pro)
|
rs1321779316
|
0.00056
|
NM_206933.4(USH2A):c.4627+411A>G
|
rs772732997
|
0.00056
|
NM_001127222.2(CACNA1A):c.6656A>C (p.His2219Pro)
|
rs772789381
|
0.00055
|
NM_001142800.2(EYS):c.7034G>A (p.Arg2345His)
|
rs201304559
|
0.00055
|
NM_001297.5(CNGB1):c.2370-9C>T
|
rs374373659
|
0.00055
|
NM_002900.3(RBP3):c.1141G>C (p.Glu381Gln)
|
rs139299230
|
0.00055
|
NM_003982.4(SLC7A7):c.234C>T (p.Val78=)
|
rs139776370
|
0.00055
|
NM_012213.3(MLYCD):c.1236C>T (p.Arg412=)
|
rs370278897
|
0.00055
|
NM_015702.3(MMADHC):c.414A>C (p.Glu138Asp)
|
rs113390214
|
0.00055
|
NM_018368.4(LMBRD1):c.1199T>C (p.Ile400Thr)
|
rs147447600
|
0.00055
|
NM_022132.5(MCCC2):c.*773C>T
|
rs1013092369
|
0.00055
|
NM_153006.3(NAGS):c.*90G>A
|
rs567905267
|
0.00055
|
NM_000329.3(RPE65):c.963T>G (p.Asn321Lys)
|
rs149916178
|
0.00054
|
NM_000360.4(TH):c.897C>T (p.Phe299=)
|
rs76719766
|
0.00054
|
NM_000440.3(PDE6A):c.*2461C>T
|
rs551329710
|
0.00054
|
NM_000485.3(APRT):c.*83G>A
|
rs748634790
|
0.00054
|
NM_000532.5(PCCB):c.1421A>G (p.Lys474Arg)
|
rs145628302
|
0.00054
|
NM_000532.5(PCCB):c.763+10C>G
|
rs180982841
|
0.00054
|
NM_001142800.2(EYS):c.716C>T (p.Ala239Val)
|
rs150140204
|
0.00054
|
NM_001297.5(CNGB1):c.595C>T (p.Arg199Cys)
|
rs199583058
|
0.00054
|
NM_001482.3(GATM):c.*55C>A
|
rs771806537
|
0.00054
|
NM_003124.5(SPR):c.*108G>A
|
rs372751802
|
0.00054
|
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met)
|
rs201988582
|
0.00054
|
NM_033100.4(CDHR1):c.*2493C>T
|
rs113121685
|
0.00054
|
NM_183050.4(BCKDHB):c.*1554C>G
|
rs563993638
|
0.00054
|
NC_000022.11:g.40345568C>A
|
rs1358901512
|
0.00053
|
NM_000018.4(ACADVL):c.63-35G>A
|
rs774905326
|
0.00053
|
NM_000322.5(PRPH2):c.249C>T (p.Tyr83=)
|
rs61755775
|
0.00053
|
NM_000327.4(ROM1):c.323C>T (p.Thr108Met)
|
rs146358003
|
0.00053
|
NM_000709.4(BCKDHA):c.289-5C>T
|
rs200646708
|
0.00053
|
NM_001243279.3(ACSF3):c.1A>G (p.Met1Val)
|
rs370382601
|
0.00053
|
NM_001609.4(ACADSB):c.67T>G (p.Leu23Val)
|
rs149562178
|
0.00053
|
NM_005327.4(HADH):c.-115delG
|
rs537335460
|
0.00053
|
NM_006915.3(RP2):c.*504T>A
|
rs782102892
|
0.00053
|
NM_012469.4(PRPF6):c.1306-7C>T
|
rs373810213
|
0.00053
|
NM_014249.4(NR2E3):c.131C>T (p.Ser44Leu)
|
rs202098481
|
0.00053
|
NM_014249.4(NR2E3):c.455C>T (p.Pro152Leu)
|
rs371853056
|
0.00053
|
NM_201548.5(CERKL):c.589G>T (p.Ala197Ser)
|
rs151110889
|
0.00053
|
NM_000108.5(DLD):c.*1307C>T
|
rs568807016
|
0.00052
|
NM_000372.5(TYR):c.1509G>C (p.Lys503Asn)
|
rs138750983
|
0.00052
|
NM_000709.4(BCKDHA):c.1081A>G (p.Ile361Val)
|
rs61736656
|
0.00052
|
NM_001297.5(CNGB1):c.3717G>T (p.Ser1239=)
|
rs202083169
|
0.00052
|
NM_001875.5(CPS1):c.948-6C>T
|
rs112199960
|
0.00052
|
NM_002860.4(ALDH18A1):c.*698G>A
|
rs557388312
|
0.00052
|
NM_014251.3(SLC25A13):c.1618C>T (p.Pro540Ser)
|
rs75622628
|
0.00052
|
NM_177976.3(ARL6):c.-375C>T
|
rs536935620
|
0.00052
|
NM_201548.5(CERKL):c.*979C>T
|
rs200370399
|
0.00052
|
NM_201548.5(CERKL):c.-71G>T
|
rs775116012
|
0.00052
|
NM_000016.6(ACADM):c.666C>A (p.Phe222Leu)
|
rs139457557
|
0.00051
|
NM_000018.4(ACADVL):c.1473A>G (p.Leu491=)
|
rs150518187
|
0.00051
|
NM_000341.4(SLC3A1):c.1846G>A (p.Ala616Thr)
|
rs143740561
|
0.00051
|
NM_000440.3(PDE6A):c.*951C>T
|
rs565361431
|
0.00051
|
NM_001029883.3(PCARE):c.1582C>T (p.Arg528Cys)
|
rs80151896
|
0.00051
|
NM_001080.3(ALDH5A1):c.*2903C>T
|
rs532636189
|
0.00051
|
NM_001080442.3(SLC38A8):c.922A>G (p.Thr308Ala)
|
rs142821762
|
0.00051
|
NM_001142800.2(EYS):c.-207A>G
|
rs370140172
|
0.00051
|
NM_001258392.3(CLPB):c.1958T>C (p.Ile653Thr)
|
rs144777839
|
0.00051
|
NM_001297.5(CNGB1):c.3421G>A (p.Ala1141Thr)
|
rs201449358
|
0.00051
|
NM_002150.3(HPD):c.1005C>G (p.Ile335Met)
|
rs137852868
|
0.00051
|
NM_004170.6(SLC1A1):c.*887T>C
|
rs182923521
|
0.00051
|
NM_006623.4(PHGDH):c.834C>A (p.Val278=)
|
rs147866831
|
0.00051
|
NM_014003.4(DHX38):c.923C>T (p.Thr308Met)
|
rs61749038
|
0.00051
|
NM_014748.4(SNX17):c.*697C>T
|
rs560324766
|
0.00051
|
NM_020166.5(MCCC1):c.-23C>T
|
rs374636986
|
0.00051
|
NM_025136.4(OPA3):c.*1614C>T
|
rs185624158
|
0.00051
|
NM_033100.4(CDHR1):c.2176C>T (p.Arg726Cys)
|
rs141706561
|
0.00051
|
NM_054012.4(ASS1):c.*55A>C
|
rs191668957
|
0.00051
|
NM_201253.3(CRB1):c.1533C>T (p.Ala511=)
|
rs142224492
|
0.00051
|
NM_201548.5(CERKL):c.*1212A>G
|
rs138526637
|
0.00051
|
NM_206933.4(USH2A):c.7068T>G (p.Asn2356Lys)
|
rs200038092
|
0.00051
|
NM_000182.5(HADHA):c.652G>C (p.Val218Leu)
|
rs71441018
|
0.00050
|
NM_000255.4(MMUT):c.1115T>C (p.Ile372Thr)
|
rs150968643
|
0.00050
|
NM_000322.5(PRPH2):c.*1408G>C
|
rs573667549
|
0.00050
|
NM_000532.5(PCCB):c.603T>C (p.Ala201=)
|
rs141340198
|
0.00050
|
NM_000687.4(AHCY):c.390C>T (p.Asp130=)
|
rs143931269
|
0.00050
|
NM_001297.5(CNGB1):c.*321G>C
|
rs77128930
|
0.00050
|
NM_002900.3(RBP3):c.3667C>T (p.Leu1223Phe)
|
rs143507852
|
0.00050
|
NM_004453.4(ETFDH):c.1375C>T (p.His459Tyr)
|
rs200111698
|
0.00050
|
NM_016247.4(IMPG2):c.*3974A>G
|
rs528342516
|
0.00050
|
NM_018368.4(LMBRD1):c.1130T>C (p.Phe377Ser)
|
rs73477459
|
0.00050
|
NM_052845.4(MMAB):c.*3265A>G
|
rs776804847
|
0.00050
|
NM_205861.3(DHDDS):c.*988C>T
|
rs762077449
|
0.00050
|
NM_000170.3(GLDC):c.2328C>T (p.Leu776=)
|
rs149600380
|
0.00049
|
NM_000260.4(MYO7A):c.3283G>A (p.Glu1095Lys)
|
rs199810429
|
0.00049
|
NM_000326.5(RLBP1):c.306A>C (p.Ala102=)
|
rs143817941
|
0.00049
|
NM_001142800.2(EYS):c.3250A>C (p.Thr1084Pro)
|
rs778646190
|
0.00049
|
NM_001142800.2(EYS):c.4402G>C (p.Asp1468His)
|
rs778752557
|
0.00049
|
NM_001271.4(CHD2):c.4762C>T (p.Arg1588Trp)
|
rs139646715
|
0.00049
|
NM_001875.5(CPS1):c.1021T>G (p.Leu341Val)
|
rs138424013
|
0.00049
|
NM_005327.4(HADH):c.-203A>G
|
rs376591232
|
0.00049
|
NM_015662.3(IFT172):c.2597A>G (p.Gln866Arg)
|
rs139229844
|
0.00049
|
NM_016247.4(IMPG2):c.*2622A>G
|
rs768294566
|
0.00049
|
NM_018368.4(LMBRD1):c.-103A>G
|
rs369575833
|
0.00049
|
NM_020166.5(MCCC1):c.130G>T (p.Ala44Ser)
|
rs201216516
|
0.00049
|
NM_020166.5(MCCC1):c.131C>T (p.Ala44Val)
|
rs200673204
|
0.00049
|
NM_020166.5(MCCC1):c.2009C>T (p.Ala670Val)
|
rs138937107
|
0.00049
|
NM_206933.4(USH2A):c.11927C>T (p.Thr3976Met)
|
rs142381713
|
0.00049
|
NM_000137.4(FAH):c.81+12G>A
|
rs200319726
|
0.00048
|
NM_000254.3(MTR):c.3227C>T (p.Thr1076Met)
|
rs144991102
|
0.00048
|
NM_000283.4(PDE6B):c.1296C>T (p.Thr432=)
|
rs114100439
|
0.00048
|
NM_000329.3(RPE65):c.*588C>A
|
rs541546843
|
0.00048
|
NM_000440.3(PDE6A):c.*2889C>G
|
rs757612877
|
0.00048
|
NM_000440.3(PDE6A):c.2238T>G (p.Gly746=)
|
rs145809648
|
0.00048
|
NM_000541.5(SAG):c.*98G>A
|
rs184255686
|
0.00048
|
NM_001029883.3(PCARE):c.*2512G>A
|
rs761750223
|
0.00048
|
NM_002150.3(HPD):c.294C>T (p.Phe98=)
|
rs117079110
|
0.00048
|
NM_003748.4(ALDH4A1):c.767C>G (p.Pro256Arg)
|
rs143835001
|
0.00048
|
NM_004170.6(SLC1A1):c.*726G>A
|
rs573900670
|
0.00048
|
NM_004744.5(LRAT):c.*3980T>C
|
rs191125324
|
0.00048
|
NM_006915.3(RP2):c.*746C>T
|
rs782701065
|
0.00048
|
NM_012213.3(MLYCD):c.1098C>T (p.Ile366=)
|
rs199549095
|
0.00048
|
NM_014049.5(ACAD9):c.195T>C (p.Asn65=)
|
rs144978857
|
0.00048
|
NM_014714.4(IFT140):c.2360A>G (p.Asp787Gly)
|
rs144938800
|
0.00048
|
NM_015662.3(IFT172):c.4666G>A (p.Val1556Met)
|
rs141098495
|
0.00048
|
NM_025136.4(OPA3):c.*4846A>T
|
rs1438623626
|
0.00048
|
NM_052845.4(MMAB):c.620C>T (p.Ala207Val)
|
rs61739388
|
0.00048
|
NM_205861.3(DHDDS):c.*1769G>A
|
rs74698108
|
0.00048
|
NM_206933.4(USH2A):c.2052A>G (p.Gln684=)
|
rs111033248
|
0.00048
|
NM_000320.3(QDPR):c.148G>A (p.Ala50Thr)
|
rs143937910
|
0.00047
|
NM_001080.3(ALDH5A1):c.1107C>T (p.Arg369=)
|
rs148188703
|
0.00047
|
NM_001142800.2(EYS):c.5566C>T (p.Arg1856Trp)
|
rs116561042
|
0.00047
|
NM_001918.5(DBT):c.*9105A>G
|
rs574151688
|
0.00047
|
NM_002098.6(GUCA1B):c.*868G>A
|
rs548674194
|
0.00047
|
NM_006343.3(MERTK):c.2142G>C (p.Leu714=)
|
rs200363872
|
0.00047
|
NM_000048.4(ASL):c.291+4C>T
|
rs368188924
|
0.00046
|
NM_000108.5(DLD):c.*1791_*1794del
|
rs760145994
|
0.00046
|
NM_000156.6(GAMT):c.*239C>T
|
rs550282678
|
0.00046
|
NM_000274.3(OAT):c.-83A>G
|
rs969985784
|
0.00046
|
NM_000274.4(OAT):c.1015-6A>G
|
rs561800688
|
0.00046
|
NM_000283.4(PDE6B):c.220C>T (p.Arg74Cys)
|
rs144590560
|
0.00046
|
NM_000320.3(QDPR):c.588G>C (p.Glu196Asp)
|
rs112209600
|
0.00046
|
NM_000539.3(RHO):c.*948T>C
|
rs529674071
|
0.00046
|
NM_001029883.3(PCARE):c.*2207C>T
|
rs187757111
|
0.00046
|
NM_001081.4(CUBN):c.*734A>G
|
rs751683958
|
0.00046
|
NM_001297.5(CNGB1):c.*228T>G
|
rs183796279
|
0.00046
|
NM_002108.4(HAL):c.1763+9A>C
|
rs201942023
|
0.00046
|
NM_003322.6(TULP1):c.823-4A>G
|
rs200264819
|
0.00046
|
NM_003748.4(ALDH4A1):c.*19C>T
|
rs377545652
|
0.00046
|
NM_005763.4(AASS):c.2762A>G (p.Gln921Arg)
|
rs140285200
|
0.00046
|
NM_014270.5(SLC7A9):c.*82C>T
|
rs537630298
|
0.00046
|
NM_014336.5(AIPL1):c.*150A>C
|
rs886053266
|
0.00046
|
NM_015662.3(IFT172):c.2015G>A (p.Arg672Gln)
|
rs138511988
|
0.00046
|
NM_015662.3(IFT172):c.2158C>T (p.Arg720Cys)
|
rs147744868
|
0.00046
|
NM_015662.3(IFT172):c.2770T>G (p.Ser924Ala)
|
rs142409945
|
0.00046
|
NM_033100.4(CDHR1):c.700G>A (p.Val234Ile)
|
rs148356887
|
0.00046
|
NM_177965.4(CFAP418):c.269A>G (p.Asn90Ser)
|
rs199731969
|
0.00046
|
NM_201253.3(CRB1):c.3878+15A>T
|
rs200217112
|
0.00046
|
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)
|
rs199605265
|
0.00046
|
NM_212552.3(BOLA3):c.319C>T (p.Arg107Cys)
|
rs150626228
|
0.00046
|
NM_000108.5(DLD):c.100A>G (p.Thr34Ala)
|
rs138002793
|
0.00045
|
NM_000440.3(PDE6A):c.367G>T (p.Asp123Tyr)
|
rs147010346
|
0.00045
|
NM_001258392.3(CLPB):c.989C>T (p.Ala330Val)
|
rs144942416
|
0.00045
|
NM_001297.5(CNGB1):c.2209C>T (p.Arg737Cys)
|
rs192843629
|
0.00045
|
NM_001352514.2(HLCS):c.215A>T (p.Lys72Met)
|
rs191115811
|
0.00045
|
NM_003748.4(ALDH4A1):c.-26G>T
|
rs536547354
|
0.00045
|
NM_006343.3(MERTK):c.*310A>G
|
rs886054763
|
0.00045
|
NM_012213.3(MLYCD):c.*130G>T
|
rs551713915
|
0.00045
|
NM_014014.5(SNRNP200):c.574+9G>A
|
rs145559167
|
0.00045
|
NM_016247.4(IMPG2):c.*3825G>A
|
rs181867679
|
0.00045
|
NM_022132.5(MCCC2):c.995G>A (p.Arg332Gln)
|
rs144203670
|
0.00045
|
NM_032861.4(SERAC1):c.1404-3C>G
|
rs367596327
|
0.00045
|
NM_054012.4(ASS1):c.175-16G>T
|
rs373936572
|
0.00045
|
NM_144631.6(ZNF513):c.1488C>T (p.His496=)
|
rs146066701
|
0.00045
|
NM_201253.3(CRB1):c.3695A>G (p.His1232Arg)
|
rs142090517
|
0.00045
|
NM_000170.3(GLDC):c.*188C>T
|
rs577665662
|
0.00044
|
NM_000282.4(PCCA):c.1002C>T (p.Thr334=)
|
rs150106872
|
0.00044
|
NM_000322.5(PRPH2):c.938C>T (p.Pro313Leu)
|
rs61748434
|
0.00044
|
NM_000341.4(SLC3A1):c.1381T>C (p.Tyr461His)
|
rs144162964
|
0.00044
|
NM_001012720.2(RGR):c.229C>T (p.Leu77Phe)
|
rs146536539
|
0.00044
|
NM_001029883.3(PCARE):c.1297C>T (p.Pro433Ser)
|
rs200696965
|
0.00044
|
NM_001081.4(CUBN):c.3988C>T (p.His1330Tyr)
|
rs149749419
|
0.00044
|
NM_001081.4(CUBN):c.7434C>T (p.Cys2478=)
|
rs148976047
|
0.00044
|
NM_001608.4(ACADL):c.799C>T (p.Arg267Trp)
|
rs200297060
|
0.00044
|
NM_001698.3(AUH):c.*432C>T
|
rs746233646
|
0.00044
|
NM_001918.5(DBT):c.*1332T>C
|
rs191584096
|
0.00044
|
NM_003748.4(ALDH4A1):c.1098G>A (p.Gly366=)
|
rs147471420
|
0.00044
|
NM_004744.5(LRAT):c.-1-12T>C
|
rs117851476
|
0.00044
|
NM_004937.3(CTNS):c.*2082C>T
|
rs182280281
|
0.00044
|
NM_020949.3(SLC7A14):c.1391G>T (p.Cys464Phe)
|
rs79668755
|
0.00044
|
NM_032601.4(MCEE):c.66C>T (p.Pro22=)
|
rs151148238
|
0.00044
|
NM_033100.4(CDHR1):c.1320+4G>C
|
rs370677921
|
0.00044
|
NM_033100.4(CDHR1):c.2367G>A (p.Pro789=)
|
rs150097621
|
0.00044
|
NM_054012.3(ASS1):c.-286_-285insT
|
rs886063525
|
0.00044
|
NM_183050.4(BCKDHB):c.*1010A>G
|
rs536048070
|
0.00044
|
NM_201253.3(CRB1):c.2746C>T (p.Leu916Phe)
|
rs140648074
|
0.00044
|
NM_201548.5(CERKL):c.362C>T (p.Thr121Ile)
|
rs143157602
|
0.00044
|
NM_000017.4(ACADS):c.*27C>T
|
rs188190117
|
0.00043
|
NM_000156.5(GAMT):c.-78C>T
|
rs886054249
|
0.00043
|
NM_000156.5(GAMT):c.-79G>A
|
rs966975299
|
0.00043
|
NM_000554.6(CRX):c.*392G>A
|
rs886054550
|
0.00043
|
NM_000709.4(BCKDHA):c.288C>T (p.His96=)
|
rs148571328
|
0.00043
|
NM_000883.4(IMPDH1):c.*102G>T
|
rs541712803
|
0.00043
|
NM_001142800.2(EYS):c.1852G>A (p.Gly618Ser)
|
rs142450703
|
0.00043
|
NM_001297.5(CNGB1):c.1024A>G (p.Lys342Glu)
|
rs201203400
|
0.00043
|
NM_001352514.2(HLCS):c.1347G>C (p.Arg449Ser)
|
rs142621386
|
0.00043
|
NM_001352514.2(HLCS):c.1390G>T (p.Val464Leu)
|
rs144705277
|
0.00043
|
NM_001609.4(ACADSB):c.*972A>G
|
rs529575388
|
0.00043
|
NM_001875.5(CPS1):c.154G>A (p.Asp52Asn)
|
rs141481633
|
0.00043
|
NM_002108.4(HAL):c.*392C>T
|
rs796922923
|
0.00043
|
NM_002900.3(RBP3):c.2856T>C (p.Tyr952=)
|
rs370173809
|
0.00043
|
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr)
|
rs201082652
|
0.00043
|
NM_004744.5(LRAT):c.*640T>C
|
rs574458445
|
0.00043
|
NM_004937.3(CTNS):c.853-15G>A
|
rs376050426
|
0.00043
|
NM_005518.3(HMGCS2):c.*862G>A
|
rs752746599
|
0.00043
|
NM_012213.3(MLYCD):c.1074G>A (p.Ser358=)
|
rs377161125
|
0.00043
|
NM_014714.4(IFT140):c.4208G>A (p.Arg1403Gln)
|
rs113216558
|
0.00043
|
NM_022132.5(MCCC2):c.328G>A (p.Asp110Asn)
|
rs145438308
|
0.00043
|
NM_024741.3(ZNF408):c.457C>T (p.Leu153Phe)
|
rs140201502
|
0.00043
|
NM_177972.3(TUB):c.358G>A (p.Gly120Ser)
|
rs146650842
|
0.00043
|
NM_201548.5(CERKL):c.*160T>G
|
rs185476460
|
0.00043
|
NM_205861.3(DHDDS):c.-53T>G
|
rs375098683
|
0.00043
|
NM_206933.4(USH2A):c.11815G>A (p.Glu3939Lys)
|
rs146264950
|
0.00043
|
NM_000322.5(PRPH2):c.*20C>T
|
rs180775924
|
0.00042
|
NM_000322.5(PRPH2):c.*592A>T
|
rs573416213
|
0.00042
|
NM_000341.4(SLC3A1):c.241C>T (p.Arg81Cys)
|
rs149813423
|
0.00042
|
NM_000360.4(TH):c.363G>A (p.Pro121=)
|
rs370429316
|
0.00042
|
NM_000387.6(SLC25A20):c.226G>C (p.Ala76Pro)
|
rs150516570
|
0.00042
|
NM_000539.3(RHO):c.*1179T>C
|
rs569761830
|
0.00042
|
NM_001081.4(CUBN):c.3252A>G (p.Gln1084=)
|
rs142560894
|
0.00042
|
NM_001142800.2(EYS):c.2068T>A (p.Cys690Ser)
|
rs370950723
|
0.00042
|
NM_001201543.2(FAM161A):c.1929A>G (p.Ser643=)
|
rs369633003
|
0.00042
|
NM_001297.5(CNGB1):c.1631C>T (p.Pro544Leu)
|
rs145234666
|
0.00042
|
NM_001370658.1(BTD):c.68A>G (p.His23Arg)
|
rs146011150
|
0.00042
|
NM_001609.4(ACADSB):c.1102T>C (p.Ser368Pro)
|
rs774205809
|
0.00042
|
NM_002860.4(ALDH18A1):c.1314C>T (p.Ile438=)
|
rs150526956
|
0.00042
|
NM_012213.3(MLYCD):c.1420A>G (p.Ile474Val)
|
rs375935118
|
0.00042
|
NM_014049.5(ACAD9):c.1405C>T (p.Arg469Trp)
|
rs139145143
|
0.00042
|
NM_014270.5(SLC7A9):c.-26G>T
|
rs375495587
|
0.00042
|
NM_020686.6(ABAT):c.109G>A (p.Val37Ile)
|
rs140119176
|
0.00042
|
NM_000017.4(ACADS):c.-56C>G
|
rs567626964
|
0.00041
|
NM_000018.4(ACADVL):c.1077+15C>T
|
rs202237278
|
0.00041
|
NM_000045.4(ARG1):c.*310A>G
|
rs142812031
|
0.00041
|
NM_000045.4(ARG1):c.798A>C (p.Lys266Asn)
|
rs111253965
|
0.00041
|
NM_000137.4(FAH):c.243G>A (p.Ala81=)
|
rs36122289
|
0.00041
|
NM_000283.4(PDE6B):c.905G>A (p.Gly302Asp)
|
rs146646008
|
0.00041
|
NM_000326.5(RLBP1):c.795+15C>T
|
rs181863443
|
0.00041
|
NM_000539.3(RHO):c.*741T>C
|
rs753496233
|
0.00041
|
NM_000554.6(CRX):c.*2821G>A
|
rs571610746
|
0.00041
|
NM_001029883.3(PCARE):c.102C>T (p.Gly34=)
|
rs149915190
|
0.00041
|
NM_001080.3(ALDH5A1):c.*1355C>T
|
rs138759652
|
0.00041
|
NM_001080.3(ALDH5A1):c.1531G>A (p.Gly511Ser)
|
rs377658514
|
0.00041
|
NM_001081.4(CUBN):c.671G>A (p.Arg224His)
|
rs139891639
|
0.00041
|
NM_001081.4(CUBN):c.9061G>A (p.Glu3021Lys)
|
rs41289299
|
0.00041
|
NM_001379270.1(CNGA1):c.1407A>G (p.Thr469=)
|
rs201553765
|
0.00041
|
NM_002108.4(HAL):c.*1169G>T
|
rs745355227
|
0.00041
|
NM_002150.3(HPD):c.895C>T (p.Leu299=)
|
rs144544907
|
0.00041
|
NM_002454.3(MTRR):c.1182C>G (p.Asp394Glu)
|
rs149678769
|
0.00041
|
NM_006899.5(IDH3B):c.684G>A (p.Leu228=)
|
rs143110856
|
0.00041
|
NM_014049.5(ACAD9):c.152A>T (p.Lys51Ile)
|
rs149931573
|
0.00041
|
NM_014251.3(SLC25A13):c.2T>C (p.Met1Thr)
|
rs541276426
|
0.00041
|
NM_015662.3(IFT172):c.3674G>A (p.Arg1225Gln)
|
rs141440865
|
0.00041
|
NM_016247.4(IMPG2):c.1495C>A (p.Pro499Thr)
|
rs143635399
|
0.00041
|
NM_018418.5(SPATA7):c.-111G>A
|
rs886050871
|
0.00041
|
NM_022132.5(MCCC2):c.90G>T (p.Ser30=)
|
rs559384926
|
0.00041
|
NM_025136.4(OPA3):c.-7C>G
|
rs199590627
|
0.00041
|
NM_052845.4(MMAB):c.*961G>A
|
rs541447661
|
0.00041
|
NM_058179.4(PSAT1):c.665G>A (p.Arg222Gln)
|
rs114496656
|
0.00041
|
NM_144639.3(UROC1):c.854G>A (p.Trp285Ter)
|
rs202232611
|
0.00041
|
NM_000108.5(DLD):c.*1857A>C
|
rs774099916
|
0.00040
|
NM_000532.5(PCCB):c.914T>G (p.Ile305Ser)
|
rs144907014
|
0.00040
|
NM_000539.3(RHO):c.439C>T (p.Arg147Cys)
|
rs200165530
|
0.00040
|
NM_001080.3(ALDH5A1):c.*2400G>C
|
rs745635354
|
0.00040
|
NM_001142800.2(EYS):c.2598C>T (p.Cys866=)
|
rs183814213
|
0.00040
|
NM_001875.5(CPS1):c.4089G>T (p.Leu1363=)
|
rs368890059
|
0.00040
|
NM_001902.6(CTH):c.864G>A (p.Lys288=)
|
rs368097625
|
0.00040
|
NM_004937.3(CTNS):c.561+4C>T
|
rs111256750
|
0.00040
|
NM_005589.4(ALDH6A1):c.*1601C>T
|
rs1001370504
|
0.00040
|
NM_006269.2(RP1):c.6196G>A (p.Asp2066Asn)
|
rs149282954
|
0.00040
|
NM_014270.5(SLC7A9):c.183T>A (p.Ala61=)
|
rs142721539
|
0.00040
|
NM_020686.6(ABAT):c.*2070G>C
|
rs150364609
|
0.00040
|
NM_022132.5(MCCC2):c.*548C>T
|
rs933207621
|
0.00040
|
NM_025136.4(OPA3):c.*1213C>T
|
rs539298843
|
0.00040
|
NM_025136.4(OPA3):c.*7181G>A
|
rs74253369
|
0.00040
|
NM_172250.3(MMAA):c.*4103G>A
|
rs191381122
|
0.00040
|
NM_206933.4(USH2A):c.2459A>G (p.Asn820Ser)
|
rs34447581
|
0.00040
|
NM_000017.4(ACADS):c.624+8C>T
|
rs371550264
|
0.00039
|
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp)
|
rs146379816
|
0.00039
|
NM_000108.5(DLD):c.55C>G (p.Arg19Gly)
|
rs144038427
|
0.00039
|
NM_000161.3(GCH1):c.671A>G (p.Lys224Arg)
|
rs41298442
|
0.00039
|
NM_000274.4(OAT):c.*61A>G
|
rs530505560
|
0.00039
|
NM_000341.4(SLC3A1):c.1768G>A (p.Asp590Asn)
|
rs200436145
|
0.00039
|
NM_000709.4(BCKDHA):c.*20C>A
|
rs370480422
|
0.00039
|
NM_001370348.2(PHF3):c.*6359T>G
|
rs193035948
|
0.00039
|
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr)
|
rs13073139
|
0.00039
|
NM_001378615.1(CC2D2A):c.4729G>A (p.Ala1577Thr)
|
rs199695154
|
0.00039
|
NM_001698.3(AUH):c.730G>A (p.Asp244Asn)
|
rs202182817
|
0.00039
|
NM_001875.5(CPS1):c.2909A>G (p.Asn970Ser)
|
rs150485422
|
0.00039
|
NM_002150.3(HPD):c.954+14A>C
|
rs200866898
|
0.00039
|
NM_002454.3(MTRR):c.1777C>T (p.Leu593Phe)
|
rs146415045
|
0.00039
|
NM_002602.4(PDE6G):c.*4G>A
|
rs200236628
|
0.00039
|
NM_003060.4(SLC22A5):c.1451G>T (p.Gly484Val)
|
rs28383480
|
0.00039
|
NM_003060.4(SLC22A5):c.272A>G (p.Asn91Ser)
|
rs546442503
|
0.00039
|
NM_003982.4(SLC7A7):c.999G>A (p.Arg333=)
|
rs146720775
|
0.00039
|
NM_004183.4(BEST1):c.1070C>T (p.Ala357Val)
|
rs17854138
|
0.00039
|
NM_006445.4(PRPF8):c.1720-7A>G
|
rs200224854
|
0.00039
|
NM_012213.3(MLYCD):c.*286G>T
|
rs573672482
|
0.00039
|
NM_014252.4(SLC25A15):c.*639G>A
|
rs192586176
|
0.00039
|
NM_172250.3(MMAA):c.*2562C>T
|
rs529092235
|
0.00039
|
NM_177965.4(CFAP418):c.521A>G (p.Lys174Arg)
|
rs148114532
|
0.00039
|
NM_183050.4(BCKDHB):c.411G>A (p.Ala137=)
|
rs142858149
|
0.00039
|
NM_206933.4(USH2A):c.7595A>C (p.Lys2532Thr)
|
rs112273610
|
0.00039
|
NM_000018.4(ACADVL):c.1894C>T (p.Arg632Cys)
|
rs151254520
|
0.00038
|
NM_000071.3(CBS):c.394C>T (p.Arg132Cys)
|
rs140002610
|
0.00038
|
NM_000137.4(FAH):c.462C>A (p.His154Gln)
|
rs144234072
|
0.00038
|
NM_000161.3(GCH1):c.*1719C>T
|
rs551251353
|
0.00038
|
NM_000255.4(MMUT):c.-135G>T
|
rs778890521
|
0.00038
|
NM_000326.5(RLBP1):c.191G>A (p.Arg64Gln)
|
rs201865787
|
0.00038
|
NM_000440.3(PDE6A):c.*1780C>T
|
rs184935833
|
0.00038
|
NM_000709.4(BCKDHA):c.63C>T (p.Ala21=)
|
rs140322984
|
0.00038
|
NM_001029883.3(PCARE):c.*988C>G
|
rs563291434
|
0.00038
|
NM_001077620.3(PRCD):c.*115G>A
|
rs758393407
|
0.00038
|
NM_004170.6(SLC1A1):c.*2G>A
|
rs148981203
|
0.00038
|
NM_005518.4(HMGCS2):c.73C>G (p.Pro25Ala)
|
rs144744634
|
0.00038
|
NM_006899.5(IDH3B):c.252C>T (p.His84=)
|
rs139159095
|
0.00038
|
NM_012213.3(MLYCD):c.*504C>A
|
rs534037213
|
0.00038
|
NM_012213.3(MLYCD):c.*82C>G
|
rs531927478
|
0.00038
|
NM_012463.4(ATP6V0A2):c.*2759T>C
|
rs550259483
|
0.00038
|
NM_015506.3(MMACHC):c.67G>T (p.Val23Phe)
|
rs201898615
|
0.00038
|
NM_016373.4(WWOX):c.935C>A (p.Ser312Tyr)
|
rs79399971
|
0.00038
|
NM_033100.4(CDHR1):c.1470C>T (p.Ser490=)
|
rs150577739
|
0.00038
|
NM_152419.3(HGSNAT):c.1237C>T (p.Pro413Ser)
|
rs201346206
|
0.00038
|
NM_201548.5(CERKL):c.97T>G (p.Leu33Val)
|
rs554167374
|
0.00038
|
NM_000320.3(QDPR):c.450C>T (p.Tyr150=)
|
rs140949360
|
0.00037
|
NM_000341.4(SLC3A1):c.322A>G (p.Ile108Val)
|
rs138597262
|
0.00037
|
NM_000372.5(TYR):c.1067A>T (p.Asp356Val)
|
rs180801021
|
0.00037
|
NM_001003841.3(SLC6A19):c.683C>T (p.Thr228Met)
|
rs762412163
|
0.00037
|
NM_001278293.3(ARL6):c.493A>G (p.Ile165Val)
|
rs146978266
|
0.00037
|
NM_001297.5(CNGB1):c.2850C>T (p.Ile950=)
|
rs563734833
|
0.00037
|
NM_006017.3(PROM1):c.-168G>A
|
rs180926533
|
0.00037
|
NM_006269.2(RP1):c.615+3G>A
|
rs199632605
|
0.00037
|
NM_012463.4(ATP6V0A2):c.954C>T (p.Asp318=)
|
rs75746974
|
0.00037
|
NM_025136.4(OPA3):c.*6902G>A
|
rs528812143
|
0.00037
|
NM_000026.4(ADSL):c.363G>A (p.Leu121=)
|
rs138203195
|
0.00036
|
NM_000156.6(GAMT):c.227C>T (p.Ser76Leu)
|
rs150338273
|
0.00036
|
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr)
|
rs147472391
|
0.00036
|
NM_000255.4(MMUT):c.1991C>T (p.Ala664Val)
|
rs137958217
|
0.00036
|
NM_000277.3(PAH):c.609C>T (p.Cys203=)
|
rs1801147
|
0.00036
|
NM_000282.4(PCCA):c.2055A>G (p.Gln685=)
|
rs147568036
|
0.00036
|
NM_000440.3(PDE6A):c.2144T>C (p.Met715Thr)
|
rs144970068
|
0.00036
|
NM_000709.4(BCKDHA):c.664G>A (p.Ala222Thr)
|
rs141086188
|
0.00036
|
NM_001080.3(ALDH5A1):c.*1033T>C
|
rs755282343
|
0.00036
|
NM_001142800.2(EYS):c.3586T>C (p.Cys1196Arg)
|
rs374409854
|
0.00036
|
NM_001352514.2(HLCS):c.1811G>A (p.Arg604His)
|
rs74574054
|
0.00036
|
NM_001609.4(ACADSB):c.*1508C>T
|
rs886046788
|
0.00036
|
NM_001609.4(ACADSB):c.*3409A>T
|
rs568844573
|
0.00036
|
NM_001739.2(CA5A):c.172G>A (p.Val58Met)
|
rs200539625
|
0.00036
|
NM_001876.4(CPT1A):c.930G>C (p.Arg310=)
|
rs147373480
|
0.00036
|
NM_002108.4(HAL):c.287C>T (p.Ser96Phe)
|
rs142371886
|
0.00036
|
NM_002108.4(HAL):c.686C>T (p.Thr229Ile)
|
rs143844261
|
0.00036
|
NM_003038.5(SLC1A4):c.1316G>A (p.Gly439Glu)
|
rs144796570
|
0.00036
|
NM_003124.5(SPR):c.*575G>A
|
rs550861892
|
0.00036
|
NM_004937.3(CTNS):c.*469G>A
|
rs150501484
|
0.00036
|
NM_004937.3(CTNS):c.94G>A (p.Val32Ile)
|
rs146684402
|
0.00036
|
NM_006017.3(PROM1):c.2112C>T (p.Arg704=)
|
rs375358457
|
0.00036
|
NM_012463.4(ATP6V0A2):c.522-9G>A
|
rs189175284
|
0.00036
|
NM_014014.5(SNRNP200):c.3640-15T>C
|
rs200824314
|
0.00036
|
NM_015662.3(IFT172):c.4363C>T (p.Arg1455Trp)
|
rs184506506
|
0.00036
|
NM_018706.7(DHTKD1):c.2319G>A (p.Pro773=)
|
rs145738102
|
0.00036
|
NM_032861.4(SERAC1):c.1259T>C (p.Ile420Thr)
|
rs114741005
|
0.00036
|
NM_032861.4(SERAC1):c.1660T>G (p.Leu554Val)
|
rs149034301
|
0.00036
|
NM_177965.4(CFAP418):c.*1629T>G
|
rs532315210
|
0.00036
|
NM_000018.4(ACADVL):c.1581G>A (p.Pro527=)
|
rs149436747
|
0.00035
|
NM_000018.4(ACADVL):c.286G>A (p.Glu96Lys)
|
rs139427392
|
0.00035
|
NM_000156.6(GAMT):c.570+161T>A
|
rs368296913
|
0.00035
|
NM_000161.3(GCH1):c.206C>T (p.Pro69Leu)
|
rs56127440
|
0.00035
|
NM_000187.4(HGD):c.*32G>A
|
rs376051958
|
0.00035
|
NM_000277.3(PAH):c.299A>G (p.His100Arg)
|
rs148393887
|
0.00035
|
NM_000282.4(PCCA):c.2037C>T (p.Asp679=)
|
rs146870931
|
0.00035
|
NM_001029883.3(PCARE):c.867C>T (p.Thr289=)
|
rs199729963
|
0.00035
|
NM_001080.3(ALDH5A1):c.*1485C>T
|
rs745486717
|
0.00035
|
NM_001142800.2(EYS):c.-200G>A
|
rs368932132
|
0.00035
|
NM_001379270.1(CNGA1):c.349G>A (p.Glu117Lys)
|
rs539600817
|
0.00035
|
NM_001482.2(GATM):c.-274C>T
|
rs745765661
|
0.00035
|
NM_001875.5(CPS1):c.1918G>T (p.Ala640Ser)
|
rs142693704
|
0.00035
|
NM_002108.4(HAL):c.1724C>T (p.Pro575Leu)
|
rs141674733
|
0.00035
|
NM_003060.4(SLC22A5):c.605T>C (p.Leu202Pro)
|
rs142447950
|
0.00035
|
NM_004937.3(CTNS):c.*2568G>C
|
rs770525743
|
0.00035
|
NM_005050.4(ABCD4):c.406C>T (p.Arg136Trp)
|
rs145141432
|
0.00035
|
NM_005327.7(HADH):c.349G>C (p.Val117Leu)
|
rs146732064
|
0.00035
|
NM_005589.4(ALDH6A1):c.*1208C>T
|
rs533760077
|
0.00035
|
NM_006445.4(PRPF8):c.3084T>C (p.Tyr1028=)
|
rs75163090
|
0.00035
|
NM_014270.5(SLC7A9):c.723C>T (p.Ile241=)
|
rs146682721
|
0.00035
|
NM_022132.5(MCCC2):c.*725C>T
|
rs370508668
|
0.00035
|
NM_052845.4(MMAB):c.*2740G>A
|
rs139886832
|
0.00035
|
NM_144631.6(ZNF513):c.519C>T (p.Ser173=)
|
rs199520071
|
0.00035
|
NM_201253.3(CRB1):c.135C>G (p.Cys45Trp)
|
rs145141811
|
0.00035
|
NM_201253.3(CRB1):c.2976A>G (p.Ala992=)
|
rs200379694
|
0.00035
|
NM_206933.4(USH2A):c.4627+561T>C
|
rs566131886
|
0.00035
|
NM_000018.4(ACADVL):c.587C>T (p.Ala196Val)
|
rs201370388
|
0.00034
|
NM_000170.3(GLDC):c.698T>C (p.Val233Ala)
|
rs140013612
|
0.00034
|
NM_000182.5(HADHA):c.2113G>A (p.Val705Ile)
|
rs146406360
|
0.00034
|
NM_000254.3(MTR):c.1953+6G>C
|
rs147410975
|
0.00034
|
NM_000329.3(RPE65):c.102C>A (p.Ile34=)
|
rs146357166
|
0.00034
|
NM_000350.3(ABCA4):c.2819C>G (p.Pro940Arg)
|
rs144995371
|
0.00034
|
NM_000350.3(ABCA4):c.3416A>G (p.Tyr1139Cys)
|
rs150895509
|
0.00034
|
NM_000360.4(TH):c.1255G>A (p.Val419Met)
|
rs184106392
|
0.00034
|
NM_000541.5(SAG):c.473C>A (p.Thr158Lys)
|
rs199537652
|
0.00034
|
NM_001010867.4(IBA57):c.574G>A (p.Ala192Thr)
|
rs140163897
|
0.00034
|
NM_001077620.3(PRCD):c.*477C>T
|
rs965177016
|
0.00034
|
NM_001081.4(CUBN):c.6091A>G (p.Thr2031Ala)
|
rs150392211
|
0.00034
|
NM_001142800.2(EYS):c.1748A>C (p.Asp583Ala)
|
rs113591099
|
0.00034
|
NM_001142800.2(EYS):c.2137+1G>A
|
rs199740930
|
0.00034
|
NM_001142800.2(EYS):c.3568+5T>C
|
rs539477235
|
0.00034
|
NM_001142800.2(EYS):c.4121G>A (p.Arg1374Gln)
|
rs142187896
|
0.00034
|
NM_001142800.2(EYS):c.4363A>G (p.Ile1455Val)
|
rs183144150
|
0.00034
|
NM_001201543.2(FAM161A):c.982A>G (p.Ile328Val)
|
rs192680593
|
0.00034
|
NM_001243279.3(ACSF3):c.857G>A (p.Arg286Gln)
|
rs371654377
|
0.00034
|
NM_001379270.1(CNGA1):c.1259G>A (p.Arg420Gln)
|
rs192912733
|
0.00034
|
NM_001609.4(ACADSB):c.*1337A>G
|
rs190353878
|
0.00034
|
NM_001902.6(CTH):c.15C>A (p.Asp5Glu)
|
rs143859234
|
0.00034
|
NM_002108.4(HAL):c.33A>G (p.Glu11=)
|
rs118129111
|
0.00034
|
NM_003060.4(SLC22A5):c.*637T>C
|
rs1050858831
|
0.00034
|
NM_003748.4(ALDH4A1):c.1073A>G (p.His358Arg)
|
rs145243354
|
0.00034
|
NM_004172.5(SLC1A3):c.*761G>A
|
rs182371422
|
0.00034
|
NM_004453.4(ETFDH):c.572G>A (p.Gly191Asp)
|
rs147219158
|
0.00034
|
NM_005050.4(ABCD4):c.752G>A (p.Arg251His)
|
rs139315421
|
0.00034
|
NM_020686.6(ABAT):c.*2276G>C
|
rs552096436
|
0.00034
|
NM_022132.5(MCCC2):c.1374-10C>T
|
rs766032118
|
0.00034
|
NM_032861.4(SERAC1):c.91A>G (p.Arg31Gly)
|
rs146896149
|
0.00034
|
NM_033100.4(CDHR1):c.*3086C>A
|
rs534785098
|
0.00034
|
NM_201548.5(CERKL):c.102G>T (p.Thr34=)
|
rs149346187
|
0.00034
|
NM_000017.4(ACADS):c.47C>T (p.Ala16Val)
|
rs147494970
|
0.00033
|
NM_000255.4(MMUT):c.1417G>T (p.Ala473Ser)
|
rs188766510
|
0.00033
|
NM_000283.4(PDE6B):c.2352+3G>A
|
rs111504036
|
0.00033
|
NM_000327.4(ROM1):c.339dup (p.Leu114fs)
|
rs71458427
|
0.00033
|
NM_000440.3(PDE6A):c.298C>T (p.Arg100Trp)
|
rs200540105
|
0.00033
|
NM_001081.4(CUBN):c.5429G>A (p.Arg1810Gln)
|
rs149622438
|
0.00033
|
NM_001201543.2(FAM161A):c.*83G>T
|
rs750644248
|
0.00033
|
NM_001609.4(ACADSB):c.1187A>C (p.Lys396Thr)
|
rs148640214
|
0.00033
|
NM_002108.4(HAL):c.841G>A (p.Ala281Thr)
|
rs140891326
|
0.00033
|
NM_003982.4(SLC7A7):c.91G>C (p.Val31Leu)
|
rs142956369
|
0.00033
|
NM_004453.4(ETFDH):c.-61C>T
|
rs377679439
|
0.00033
|
NM_006017.3(PROM1):c.1911+8G>A
|
rs370302107
|
0.00033
|
NM_006343.3(MERTK):c.98C>T (p.Pro33Leu)
|
rs144751432
|
0.00033
|
NM_012463.4(ATP6V0A2):c.1766C>T (p.Pro589Leu)
|
rs149700024
|
0.00033
|
NM_014252.4(SLC25A15):c.632C>T (p.Pro211Leu)
|
rs139034961
|
0.00033
|
NM_020166.5(MCCC1):c.1705A>T (p.Asn569Tyr)
|
rs148332041
|
0.00033
|
NM_022132.5(MCCC2):c.*1297G>A
|
rs547084096
|
0.00033
|
NM_022132.5(MCCC2):c.738+9A>G
|
rs776559643
|
0.00033
|
NM_022367.4(SEMA4A):c.*666C>A
|
rs181676637
|
0.00033
|
NM_153006.3(NAGS):c.246G>A (p.Pro82=)
|
rs747154237
|
0.00033
|
NM_206933.4(USH2A):c.6590C>T (p.Thr2197Ile)
|
rs140487302
|
0.00033
|
NM_000170.3(GLDC):c.2147T>A (p.Leu716His)
|
rs145018304
|
0.00032
|
NM_000283.4(PDE6B):c.1401+5G>A
|
rs201623488
|
0.00032
|
NM_000283.4(PDE6B):c.966C>T (p.His322=)
|
rs143711050
|
0.00032
|
NM_000440.3(PDE6A):c.1614A>G (p.Pro538=)
|
rs139697733
|
0.00032
|
NM_000481.4(AMT):c.101G>A (p.Arg34His)
|
rs138259479
|
0.00032
|
NM_000554.6(CRX):c.425A>G (p.Tyr142Cys)
|
rs61748442
|
0.00032
|
NM_000666.3(ACY1):c.625C>T (p.Arg209Cys)
|
rs140738368
|
0.00032
|
NM_001003841.3(SLC6A19):c.1606G>A (p.Val536Met)
|
rs145250153
|
0.00032
|
NM_001003841.3(SLC6A19):c.539C>T (p.Thr180Met)
|
rs141487939
|
0.00032
|
NM_001081.4(CUBN):c.4376C>G (p.Ser1459Cys)
|
rs138022214
|
0.00032
|
NM_001258392.3(CLPB):c.441G>C (p.Met147Ile)
|
rs146895312
|
0.00032
|
NM_001297.5(CNGB1):c.*967C>T
|
rs796880965
|
0.00032
|
NM_001352514.2(HLCS):c.1621-12T>C
|
rs367728041
|
0.00032
|
NM_001918.5(DBT):c.*4291C>A
|
rs1256627350
|
0.00032
|
NM_002860.4(ALDH18A1):c.492C>T (p.Ala164=)
|
rs150472102
|
0.00032
|
NM_002860.4(ALDH18A1):c.933+13T>C
|
rs201520042
|
0.00032
|
NM_004937.2(CTNS):c.-509C>G
|
rs534946329
|
0.00032
|
NM_012213.3(MLYCD):c.1294C>T (p.Arg432Cys)
|
rs35124955
|
0.00032
|
NM_014014.5(SNRNP200):c.4448G>A (p.Arg1483Gln)
|
rs779888644
|
0.00032
|
NM_014251.3(SLC25A13):c.1230A>C (p.Thr410=)
|
rs150021522
|
0.00032
|
NM_016247.4(IMPG2):c.1223C>T (p.Thr408Met)
|
rs148056371
|
0.00032
|
NM_022132.5(MCCC2):c.*565C>A
|
rs565365607
|
0.00032
|
NM_033100.4(CDHR1):c.*838G>T
|
rs886047336
|
0.00032
|
NM_000016.6(ACADM):c.1091T>C (p.Ile364Thr)
|
rs150710061
|
0.00031
|
NM_000019.3(ACAT1):c.*574G>C
|
rs775813923
|
0.00031
|
NM_000170.3(GLDC):c.*235T>G
|
rs749941145
|
0.00031
|
NM_000170.3(GLDC):c.1000T>C (p.Phe334Leu)
|
rs149133229
|
0.00031
|
NM_000182.5(HADHA):c.1689+11C>T
|
rs367640259
|
0.00031
|
NM_000182.5(HADHA):c.79C>T (p.Arg27Cys)
|
rs143832445
|
0.00031
|
NM_000317.3(PTS):c.17G>T (p.Gly6Val)
|
rs138154701
|
0.00031
|
NM_000440.3(PDE6A):c.*1057C>T
|
rs144135425
|
0.00031
|
NM_000481.4(AMT):c.825T>A (p.Asn275Lys)
|
rs144241950
|
0.00031
|
NM_000532.5(PCCB):c.180G>A (p.Lys60=)
|
rs140636870
|
0.00031
|
NM_000883.4(IMPDH1):c.888C>T (p.Ile296=)
|
rs72624957
|
0.00031
|
NM_001081.4(CUBN):c.3116A>G (p.Tyr1039Cys)
|
rs150014503
|
0.00031
|
NM_001081.4(CUBN):c.7837A>C (p.Ile2613Leu)
|
rs144626884
|
0.00031
|
NM_001081.4(CUBN):c.9335T>C (p.Phe3112Ser)
|
rs150985118
|
0.00031
|
NM_001142800.2(EYS):c.6318T>C (p.Asp2106=)
|
rs193261187
|
0.00031
|
NM_001142800.2(EYS):c.7353A>C (p.Ala2451=)
|
rs527812465
|
0.00031
|
NM_001142800.2(EYS):c.8789A>G (p.Asp2930Gly)
|
rs201690244
|
0.00031
|
NM_001243279.3(ACSF3):c.43G>A (p.Ala15Thr)
|
rs375374971
|
0.00031
|
NM_001379270.1(CNGA1):c.1058C>T (p.Thr353Ile)
|
rs183197573
|
0.00031
|
NM_002225.5(IVD):c.*1005T>C
|
rs560096869
|
0.00031
|
NM_002225.5(IVD):c.*287C>T
|
rs565064447
|
0.00031
|
NM_005589.4(ALDH6A1):c.151T>C (p.Ser51Pro)
|
rs61745707
|
0.00031
|
NM_005957.5(MTHFR):c.203G>A (p.Arg68Gln)
|
rs2066472
|
0.00031
|
NM_006343.3(MERTK):c.986A>G (p.Asn329Ser)
|
rs34943572
|
0.00031
|
NM_014049.5(ACAD9):c.479A>C (p.Glu160Ala)
|
rs145391132
|
0.00031
|
NM_014336.5(AIPL1):c.*434C>T
|
rs905874402
|
0.00031
|
NM_016247.4(IMPG2):c.*565A>T
|
rs995361821
|
0.00031
|
NM_052845.4(MMAB):c.*3043T>G
|
rs771530065
|
0.00031
|
NM_052845.4(MMAB):c.*503G>A
|
rs766339289
|
0.00031
|
NM_054012.4(ASS1):c.333C>T (p.Ala111=)
|
rs141568959
|
0.00031
|
NM_058179.4(PSAT1):c.*498C>T
|
rs573775683
|
0.00031
|
NM_172250.3(MMAA):c.393A>T (p.Arg131Ser)
|
rs371714495
|
0.00031
|
NM_177965.4(CFAP418):c.*2617G>T
|
rs141942063
|
0.00031
|
NM_206933.4(USH2A):c.14519T>C (p.Leu4840Pro)
|
rs143275144
|
0.00031
|
NM_000019.4(ACAT1):c.1217A>G (p.Glu406Gly)
|
rs147872303
|
0.00030
|
NM_000687.4(AHCY):c.882C>G (p.Ala294=)
|
rs376464023
|
0.00030
|
NM_001080.3(ALDH5A1):c.*1221C>T
|
rs376290382
|
0.00030
|
NM_001142800.2(EYS):c.1082T>C (p.Ile361Thr)
|
rs201059400
|
0.00030
|
NM_001164665.2(KIAA1549):c.116G>A (p.Arg39His)
|
rs867020397
|
0.00030
|
NM_001297.5(CNGB1):c.412+8C>A
|
rs185727761
|
0.00030
|
NM_002900.3(RBP3):c.1569C>G (p.His523Gln)
|
rs148093336
|
0.00030
|
NM_004698.4(PRPF3):c.780G>A (p.Glu260=)
|
rs80201355
|
0.00030
|
NM_005763.4(AASS):c.1048G>A (p.Val350Met)
|
rs780164559
|
0.00030
|
NM_006623.4(PHGDH):c.296C>G (p.Pro99Arg)
|
rs182600362
|
0.00030
|
NM_014251.3(SLC25A13):c.*93G>A
|
rs537886271
|
0.00030
|
NM_014384.3(ACAD8):c.466G>T (p.Ala156Ser)
|
rs201273972
|
0.00030
|
NM_015506.3(MMACHC):c.19G>A (p.Glu7Lys)
|
rs377405910
|
0.00030
|
NM_015662.3(IFT172):c.1523G>A (p.Arg508His)
|
rs144868723
|
0.00030
|
NM_015662.3(IFT172):c.886C>T (p.Arg296Trp)
|
rs145541911
|
0.00030
|
NM_022132.5(MCCC2):c.*714G>A
|
rs562662053
|
0.00030
|
NM_025136.4(OPA3):c.*1070C>T
|
rs146989248
|
0.00030
|
NM_031220.4(PITPNM3):c.1688C>T (p.Thr563Met)
|
rs139119218
|
0.00030
|
NM_031885.5(BBS2):c.358G>A (p.Ala120Thr)
|
rs148808295
|
0.00030
|
NM_178857.6(RP1L1):c.455G>A (p.Arg152Gln)
|
rs200213603
|
0.00030
|
NM_000017.4(ACADS):c.*266G>T
|
rs537512881
|
0.00029
|
NM_000018.4(ACADVL):c.1678+15C>T
|
rs371402802
|
0.00029
|
NM_000071.3(CBS):c.1479G>A (p.Thr493=)
|
rs143225442
|
0.00029
|
NM_000071.3(CBS):c.600G>A (p.Pro200=)
|
rs181472622
|
0.00029
|
NM_000108.5(DLD):c.763A>C (p.Met255Leu)
|
rs533405046
|
0.00029
|
NM_000161.3(GCH1):c.507G>A (p.Ala169=)
|
rs150158277
|
0.00029
|
NM_000255.4(MMUT):c.*466G>A
|
rs538293537
|
0.00029
|
NM_000255.4(MMUT):c.878A>G (p.Gln293Arg)
|
rs138374956
|
0.00029
|
NM_000283.4(PDE6B):c.2504-1G>C
|
rs201870319
|
0.00029
|
NM_000353.3(TAT):c.1046A>G (p.Asn349Ser)
|
rs138304751
|
0.00029
|
NM_000360.4(TH):c.406G>A (p.Val136Met)
|
rs142046543
|
0.00029
|
NM_000372.5(TYR):c.649C>T (p.Arg217Trp)
|
rs63159160
|
0.00029
|
NM_000440.3(PDE6A):c.1952A>G (p.Asn651Ser)
|
rs149380104
|
0.00029
|
NM_000541.5(SAG):c.1054G>A (p.Ala352Thr)
|
rs201307508
|
0.00029
|
NM_000687.4(AHCY):c.855-8C>T
|
rs370059571
|
0.00029
|
NM_000709.4(BCKDHA):c.294G>A (p.Pro98=)
|
rs142967869
|
0.00029
|
NM_000717.5(CA4):c.681G>A (p.Pro227=)
|
rs144467811
|
0.00029
|
NM_001081.4(CUBN):c.6263T>C (p.Phe2088Ser)
|
rs74844886
|
0.00029
|
NM_001081.4(CUBN):c.814G>A (p.Gly272Arg)
|
rs146035059
|
0.00029
|
NM_001142800.2(EYS):c.1512T>A (p.Ala504=)
|
rs142178909
|
0.00029
|
NM_001142800.2(EYS):c.2596T>C (p.Cys866Arg)
|
rs369966951
|
0.00029
|
NM_001142800.2(EYS):c.5577C>T (p.Pro1859=)
|
rs747911999
|
0.00029
|
NM_001142800.2(EYS):c.5988C>T (p.Cys1996=)
|
rs370988507
|
0.00029
|
NM_001258392.3(CLPB):c.646+6T>C
|
rs374982363
|
0.00029
|
NM_001352514.2(HLCS):c.*2771C>T
|
rs746169122
|
0.00029
|
NM_001352514.2(HLCS):c.*430T>C
|
rs186680398
|
0.00029
|
NM_001609.4(ACADSB):c.*3332A>T
|
rs763405920
|
0.00029
|
NM_001609.4(ACADSB):c.*3470T>C
|
rs547577402
|
0.00029
|
NM_001698.3(AUH):c.936T>C (p.Tyr312=)
|
rs139628387
|
0.00029
|
NM_001875.5(CPS1):c.1116C>T (p.Phe372=)
|
rs200465544
|
0.00029
|
NM_001876.4(CPT1A):c.1876G>C (p.Val626Leu)
|
rs41302429
|
0.00029
|
NM_001918.5(DBT):c.*9123A>G
|
rs79752201
|
0.00029
|
NM_002108.4(HAL):c.*1409G>A
|
rs141219113
|
0.00029
|
NM_003060.4(SLC22A5):c.287G>C (p.Gly96Ala)
|
rs377767450
|
0.00029
|
NM_003322.6(TULP1):c.249G>A (p.Ala83=)
|
rs377105125
|
0.00029
|
NM_004170.6(SLC1A1):c.*438T>C
|
rs886063969
|
0.00029
|
NM_004183.4(BEST1):c.1143C>T (p.Asp381=)
|
rs112199774
|
0.00029
|
NM_004937.3(CTNS):c.661G>A (p.Val221Met)
|
rs138270433
|
0.00029
|
NM_005050.4(ABCD4):c.1589A>T (p.Gln530Leu)
|
rs142696207
|
0.00029
|
NM_005518.4(HMGCS2):c.241G>A (p.Ala81Thr)
|
rs151187711
|
0.00029
|
NM_005957.5(MTHFR):c.1719C>T (p.Thr573=)
|
rs149585376
|
0.00029
|
NM_014249.4(NR2E3):c.227G>A (p.Arg76Gln)
|
rs104894493
|
0.00029
|
NM_014252.4(SLC25A15):c.345C>T (p.Phe115=)
|
rs35434090
|
0.00029
|
NM_015702.3(MMADHC):c.557T>C (p.Met186Thr)
|
rs61755260
|
0.00029
|
NM_016247.4(IMPG2):c.*371G>A
|
rs191595733
|
0.00029
|
NM_016335.6(PRODH):c.578G>A (p.Gly193Asp)
|
rs199907923
|
0.00029
|
NM_022132.5(MCCC2):c.*368T>C
|
rs769233664
|
0.00029
|
NM_025114.4(CEP290):c.503G>A (p.Arg168His)
|
rs200063017
|
0.00029
|
NM_031885.5(BBS2):c.-2T>G
|
rs111296910
|
0.00029
|
NM_152443.3(RDH12):c.*434A>T
|
rs886050645
|
0.00029
|
NM_152443.3(RDH12):c.*557C>T
|
rs553955355
|
0.00029
|
NM_172250.3(MMAA):c.*2139A>G
|
rs772671304
|
0.00029
|
NM_205861.3(DHDDS):c.*2104A>T
|
rs182595109
|
0.00029
|
NM_206933.4(USH2A):c.15364T>C (p.Cys5122Arg)
|
rs111033402
|
0.00029
|
NM_206933.4(USH2A):c.2167+11C>T
|
rs139647897
|
0.00029
|
NM_206933.4(USH2A):c.3320T>G (p.Ile1107Ser)
|
rs146372677
|
0.00029
|
NM_000016.6(ACADM):c.214G>A (p.Glu72Lys)
|
rs374358376
|
0.00028
|
NM_000170.3(GLDC):c.2874C>T (p.Ser958=)
|
rs146339375
|
0.00028
|
NM_000182.5(HADHA):c.1690-13G>A
|
rs368557552
|
0.00028
|
NM_000255.4(MMUT):c.566A>G (p.Asn189Ser)
|
rs200908035
|
0.00028
|
NM_000277.3(PAH):c.-104C>T
|
rs767107144
|
0.00028
|
NM_000282.4(PCCA):c.1850T>C (p.Leu617Pro)
|
rs563417983
|
0.00028
|
NM_000327.4(ROM1):c.793G>A (p.Ala265Thr)
|
rs200272942
|
0.00028
|
NM_000350.3(ABCA4):c.3076T>C (p.Phe1026Leu)
|
rs369703217
|
0.00028
|
NM_000360.4(TH):c.67G>A (p.Ala23Thr)
|
rs201081519
|
0.00028
|
NM_000531.6(OTC):c.941A>C (p.Glu314Ala)
|
rs137899554
|
0.00028
|
NM_000709.3(BCKDHA):c.-25G>C
|
rs202084220
|
0.00028
|
NM_001029883.3(PCARE):c.403G>A (p.Glu135Lys)
|
rs200227182
|
0.00028
|
NM_001031710.3(KLHL7):c.*24T>C
|
rs373590982
|
0.00028
|
NM_001081.4(CUBN):c.9664-9T>G
|
rs145383974
|
0.00028
|
NM_001142800.2(EYS):c.7044C>T (p.Gly2348=)
|
rs369191457
|
0.00028
|
NM_003060.4(SLC22A5):c.529A>G (p.Met177Val)
|
rs145068530
|
0.00028
|
NM_004172.5(SLC1A3):c.*1605T>A
|
rs182194574
|
0.00028
|
NM_005589.4(ALDH6A1):c.*1887A>C
|
rs566580516
|
0.00028
|
NM_005957.5(MTHFR):c.673A>G (p.Ile225Val)
|
rs200100285
|
0.00028
|
NM_006269.2(RP1):c.5673G>T (p.Leu1891Phe)
|
rs139088785
|
0.00028
|
NM_014251.3(SLC25A13):c.*622C>T
|
rs575375923
|
0.00028
|
NM_014251.3(SLC25A13):c.1088G>T (p.Gly363Val)
|
rs35996658
|
0.00028
|
NM_014748.4(SNX17):c.*692T>C
|
rs754539683
|
0.00028
|
NM_025136.4(OPA3):c.*4372G>A
|
rs573344031
|
0.00028
|
NM_054012.4(ASS1):c.1015G>A (p.Ala339Thr)
|
rs145100866
|
0.00028
|
NM_206933.4(USH2A):c.9307A>G (p.Ile3103Val)
|
rs143352618
|
0.00028
|
NM_000126.4(ETFA):c.20C>T (p.Pro7Leu)
|
rs557160401
|
0.00027
|
NM_000240.4(MAOA):c.1441G>A (p.Val481Ile)
|
rs183147374
|
0.00027
|
NM_001010867.4(IBA57):c.23G>A (p.Arg8Gln)
|
rs765179856
|
0.00027
|
NM_001081.4(CUBN):c.3646C>G (p.Pro1216Ala)
|
rs145881708
|
0.00027
|
NM_001278293.3(ARL6):c.-207G>A
|
rs189005414
|
0.00027
|
NM_001278293.3(ARL6):c.-71C>G
|
rs777066573
|
0.00027
|
NM_001875.5(CPS1):c.2275T>A (p.Ser759Thr)
|
rs150012540
|
0.00027
|
NM_001985.3(ETFB):c.709G>A (p.Val237Ile)
|
rs149129214
|
0.00027
|
NM_004170.6(SLC1A1):c.1200G>A (p.Thr400=)
|
rs144334183
|
0.00027
|
NM_004170.6(SLC1A1):c.123C>T (p.His41=)
|
rs142272329
|
0.00027
|
NM_004279.3(PMPCB):c.28T>G (p.Leu10Val)
|
rs77305684
|
0.00027
|
NM_004744.5(LRAT):c.*561A>G
|
rs1046022135
|
0.00027
|
NM_006445.4(PRPF8):c.5506T>C (p.Leu1836=)
|
rs147958141
|
0.00027
|
NM_006445.4(PRPF8):c.5841C>T (p.Asn1947=)
|
rs142499204
|
0.00027
|
NM_012213.3(MLYCD):c.*135A>G
|
rs571831745
|
0.00027
|
NM_015509.4(NECAP1):c.251C>T (p.Thr84Met)
|
rs137964265
|
0.00027
|
NM_025136.4(OPA3):c.*5660A>G
|
rs935989223
|
0.00027
|
NM_058179.4(PSAT1):c.106G>C (p.Gly36Arg)
|
rs367577346
|
0.00027
|
NM_172250.3(MMAA):c.*1584A>G
|
rs530538534
|
0.00027
|
NM_172250.3(MMAA):c.*177A>G
|
rs572996882
|
0.00027
|
NM_172250.3(MMAA):c.1177G>A (p.Glu393Lys)
|
rs144313458
|
0.00027
|
NM_000018.4(ACADVL):c.1533-4T>A
|
rs369986567
|
0.00026
|
NM_000156.6(GAMT):c.570+4C>T
|
rs199967562
|
0.00026
|
NM_000187.3(HGD):c.-221G>A
|
rs535973482
|
0.00026
|
NM_000255.4(MMUT):c.*1044T>A
|
rs779436906
|
0.00026
|
NM_000274.4(OAT):c.*311T>C
|
rs753216934
|
0.00026
|
NM_000282.4(PCCA):c.660C>T (p.Ala220=)
|
rs145826296
|
0.00026
|
NM_000317.3(PTS):c.195T>C (p.Pro65=)
|
rs143472856
|
0.00026
|
NM_000320.3(QDPR):c.*612T>C
|
rs776067259
|
0.00026
|
NM_000341.4(SLC3A1):c.1473C>T (p.Ala491=)
|
rs144065614
|
0.00026
|
NM_000341.4(SLC3A1):c.66C>T (p.Asn22=)
|
rs149507807
|
0.00026
|
NM_000360.4(TH):c.594G>T (p.Val198=)
|
rs544661832
|
0.00026
|
NM_000440.3(PDE6A):c.497T>C (p.Val166Ala)
|
rs199887926
|
0.00026
|
NM_000532.5(PCCB):c.82C>G (p.Leu28Val)
|
rs141137691
|
0.00026
|
NM_000687.4(AHCY):c.1001G>A (p.Arg334His)
|
rs201871637
|
0.00026
|
NM_000717.5(CA4):c.744+3G>A
|
rs373253742
|
0.00026
|
NM_001031710.3(KLHL7):c.*762G>A
|
rs531449074
|
0.00026
|
NM_001031710.3(KLHL7):c.*865C>T
|
rs193202664
|
0.00026
|
NM_001081.4(CUBN):c.2932C>A (p.His978Asn)
|
rs369981313
|
0.00026
|
NM_001081.4(CUBN):c.4167C>T (p.Tyr1389=)
|
rs150510291
|
0.00026
|
NM_001081.4(CUBN):c.6560C>T (p.Ser2187Leu)
|
rs143899993
|
0.00026
|
NM_001142800.2(EYS):c.7724-12C>T
|
rs144282503
|
0.00026
|
NM_001142800.2(EYS):c.9237A>G (p.Leu3079=)
|
rs139944387
|
0.00026
|
NM_001242957.3(MAK):c.1144-10T>C
|
rs202001756
|
0.00026
|
NM_001258392.3(CLPB):c.889C>T (p.Arg297Trp)
|
rs148534573
|
0.00026
|
NM_001297.5(CNGB1):c.1854C>T (p.Ala618=)
|
rs572930933
|
0.00026
|
NM_001352514.2(HLCS):c.*1084C>T
|
rs530869762
|
0.00026
|
NM_001352514.2(HLCS):c.1073C>T (p.Thr358Met)
|
rs142524025
|
0.00026
|
NM_001352514.2(HLCS):c.2465A>G (p.His822Arg)
|
rs148868421
|
0.00026
|
NM_001378615.1(CC2D2A):c.1691C>T (p.Thr564Met)
|
rs201954181
|
0.00026
|
NM_001609.4(ACADSB):c.*1907C>T
|
rs886046793
|
0.00026
|
NM_001875.5(CPS1):c.1569A>G (p.Arg523=)
|
rs140475976
|
0.00026
|
NM_001876.4(CPT1A):c.693+7C>T
|
rs370181471
|
0.00026
|
NM_001918.5(DBT):c.*1322C>T
|
rs941752024
|
0.00026
|
NM_001918.5(DBT):c.*347C>T
|
rs372982170
|
0.00026
|
NM_001985.3(ETFB):c.278C>T (p.Pro93Leu)
|
rs139519507
|
0.00026
|
NM_002108.4(HAL):c.25C>T (p.Arg9Cys)
|
rs201646460
|
0.00026
|
NM_002225.5(IVD):c.400A>G (p.Ile134Val)
|
rs151118565
|
0.00026
|
NM_002900.3(RBP3):c.1179A>G (p.Thr393=)
|
rs148615170
|
0.00026
|
NM_003042.4(SLC6A1):c.1250G>A (p.Arg417His)
|
rs191293931
|
0.00026
|
NM_003748.4(ALDH4A1):c.1377G>C (p.Pro459=)
|
rs146222625
|
0.00026
|
NM_004937.2(CTNS):c.-451A>G
|
rs1012479993
|
0.00026
|
NM_004937.3(CTNS):c.*262G>A
|
rs201647994
|
0.00026
|
NM_006017.3(PROM1):c.604C>G (p.Arg202Gly)
|
rs140872693
|
0.00026
|
NM_006017.3(PROM1):c.963G>T (p.Leu321Phe)
|
rs202041422
|
0.00026
|
NM_006623.4(PHGDH):c.1471C>T (p.Arg491Trp)
|
rs587731325
|
0.00026
|
NM_006899.5(IDH3B):c.624G>C (p.Lys208Asn)
|
rs148250924
|
0.00026
|
NM_006899.5(IDH3B):c.916-10C>T
|
rs202127751
|
0.00026
|
NM_012463.4(ATP6V0A2):c.*2198C>T
|
rs886049073
|
0.00026
|
NM_012463.4(ATP6V0A2):c.309G>T (p.Lys103Asn)
|
rs144499089
|
0.00026
|
NM_014014.5(SNRNP200):c.-95G>A
|
rs780044707
|
0.00026
|
NM_014014.5(SNRNP200):c.2928G>A (p.Thr976=)
|
rs375734152
|
0.00026
|
NM_014714.4(IFT140):c.1331T>C (p.Met444Thr)
|
rs148663745
|
0.00026
|
NM_015662.3(IFT172):c.1313C>T (p.Pro438Leu)
|
rs367930028
|
0.00026
|
NM_020208.4(SLC6A20):c.1744C>T (p.Arg582Cys)
|
rs146474113
|
0.00026
|
NM_020686.6(ABAT):c.-107G>A
|
rs531589337
|
0.00026
|
NM_025136.4(OPA3):c.*1091C>G
|
rs557691359
|
0.00026
|
NM_052845.4(MMAB):c.*2051C>T
|
rs775263273
|
0.00026
|
NM_144596.4(TTC8):c.669G>A (p.Lys223=)
|
rs141304350
|
0.00026
|
NM_145261.4(DNAJC19):c.331G>C (p.Glu111Gln)
|
rs370042988
|
0.00026
|
NM_177550.5(SLC13A5):c.1366G>A (p.Val456Ile)
|
rs146047560
|
0.00026
|
NM_183050.4(BCKDHB):c.744G>A (p.Ala248=)
|
rs147719822
|
0.00026
|
NM_201548.5(CERKL):c.602C>G (p.Thr201Ser)
|
rs142996023
|
0.00026
|
NM_206933.4(USH2A):c.13133C>T (p.Pro4378Leu)
|
rs570277510
|
0.00026
|
NM_206933.4(USH2A):c.13396C>T (p.Pro4466Ser)
|
rs138398671
|
0.00026
|
NM_000071.3(CBS):c.829-11G>T
|
rs371619788
|
0.00025
|
NM_000159.4(GCDH):c.*70G>A
|
rs760840900
|
0.00025
|
NM_000254.3(MTR):c.2014G>A (p.Glu672Lys)
|
rs142774813
|
0.00025
|
NM_000255.4(MMUT):c.2197G>A (p.Val733Ile)
|
rs1183369398
|
0.00025
|
NM_000341.4(SLC3A1):c.680G>A (p.Arg227Gln)
|
rs142469446
|
0.00025
|
NM_000709.4(BCKDHA):c.375+4C>T
|
rs377496852
|
0.00025
|
NM_000717.5(CA4):c.58+10C>G
|
rs756230727
|
0.00025
|
NM_000883.4(IMPDH1):c.*642G>A
|
rs574318258
|
0.00025
|
NM_000883.4(IMPDH1):c.1714G>C (p.Glu572Gln)
|
rs150628823
|
0.00025
|
NM_001102564.3(IFT43):c.583C>T (p.Gln195Ter)
|
rs150616080
|
0.00025
|
NM_001142800.2(EYS):c.2512C>T (p.Pro838Ser)
|
rs112495229
|
0.00025
|
NM_001352514.2(HLCS):c.*2541C>T
|
rs184935954
|
0.00025
|
NM_001902.6(CTH):c.*371G>A
|
rs183166406
|
0.00025
|
NM_001918.5(DBT):c.*4507T>C
|
rs762813875
|
0.00025
|
NM_002454.3(MTRR):c.906T>C (p.Asn302=)
|
rs144729918
|
0.00025
|
NM_004170.6(SLC1A1):c.-86G>C
|
rs868790014
|
0.00025
|
NM_006445.4(PRPF8):c.4022+15A>G
|
rs370376159
|
0.00025
|
NM_012213.3(MLYCD):c.1328G>C (p.Gly443Ala)
|
rs200278015
|
0.00025
|
NM_012463.4(ATP6V0A2):c.614C>T (p.Ala205Val)
|
rs143802431
|
0.00025
|
NM_014251.3(SLC25A13):c.1681G>A (p.Gly561Arg)
|
rs142801864
|
0.00025
|
NM_015629.4(PRPF31):c.239-12G>A
|
rs377086372
|
0.00025
|
NM_015662.3(IFT172):c.831G>C (p.Glu277Asp)
|
rs150938554
|
0.00025
|
NM_016247.4(IMPG2):c.2933C>T (p.Ala978Val)
|
rs371611480
|
0.00025
|
NM_016247.4(IMPG2):c.3561C>T (p.Ser1187=)
|
rs139496326
|
0.00025
|
NM_201253.3(CRB1):c.1428C>T (p.Thr476=)
|
rs62636282
|
0.00025
|
NM_201253.3(CRB1):c.2230C>A (p.Arg744=)
|
rs150412614
|
0.00025
|
NM_206933.4(USH2A):c.10490A>G (p.Asp3497Gly)
|
rs146569216
|
0.00025
|
NM_206933.4(USH2A):c.1439T>C (p.Val480Ala)
|
rs200981928
|
0.00025
|
NM_000016.5(ACADM):c.-403C>T
|
rs886046518
|
0.00024
|
NM_000018.4(ACADVL):c.1751+18G>A
|
rs528002997
|
0.00024
|
NM_000108.5(DLD):c.*845G>A
|
rs750426584
|
0.00024
|
NM_000156.6(GAMT):c.7G>A (p.Ala3Thr)
|
rs574164748
|
0.00024
|
NM_000170.3(GLDC):c.-31C>A
|
rs964863986
|
0.00024
|
NM_000283.4(PDE6B):c.*545T>C
|
rs149186081
|
0.00024
|
NM_000322.5(PRPH2):c.75G>C (p.Trp25Cys)
|
rs146686238
|
0.00024
|
NM_000327.4(ROM1):c.986C>T (p.Ala329Val)
|
rs139971812
|
0.00024
|
NM_000360.4(TH):c.1334+3G>C
|
rs371566928
|
0.00024
|
NM_000387.6(SLC25A20):c.358T>C (p.Ser120Pro)
|
rs149174359
|
0.00024
|
NM_000481.4(AMT):c.152C>T (p.Ala51Val)
|
rs34812788
|
0.00024
|
NM_000481.4(AMT):c.635T>C (p.Val212Ala)
|
rs201141125
|
0.00024
|
NM_000709.4(BCKDHA):c.744C>T (p.Ala248=)
|
rs137960127
|
0.00024
|
NM_000883.4(IMPDH1):c.*231C>G
|
rs1042267
|
0.00024
|
NM_001080442.3(SLC38A8):c.848A>C (p.Asp283Ala)
|
rs139373929
|
0.00024
|
NM_001127222.2(CACNA1A):c.3227C>T (p.Ala1076Val)
|
rs199512932
|
0.00024
|
NM_001142800.2(EYS):c.2813A>G (p.Lys938Arg)
|
rs367857088
|
0.00024
|
NM_001243279.3(ACSF3):c.1502-4G>A
|
rs111414659
|
0.00024
|
NM_001278064.2(GRM1):c.1073G>A (p.Arg358Lys)
|
rs112817798
|
0.00024
|
NM_001354768.3(NRL):c.*864G>A
|
rs906154950
|
0.00024
|
NM_001698.3(AUH):c.791G>A (p.Gly264Glu)
|
rs376821113
|
0.00024
|
NM_001902.6(CTH):c.*370C>T
|
rs868533214
|
0.00024
|
NM_001918.5(DBT):c.*5877G>C
|
rs562874757
|
0.00024
|
NM_002108.4(HAL):c.724C>A (p.Leu242Met)
|
rs145831585
|
0.00024
|
NM_002860.4(ALDH18A1):c.1153-13A>G
|
rs370680325
|
0.00024
|
NM_003060.4(SLC22A5):c.1010C>T (p.Thr337Ile)
|
rs142479732
|
0.00024
|
NM_003124.5(SPR):c.369C>T (p.Tyr123=)
|
rs146349901
|
0.00024
|
NM_004744.5(LRAT):c.*1418C>G
|
rs148321604
|
0.00024
|
NM_004744.5(LRAT):c.*517G>A
|
rs535367516
|
0.00024
|
NM_004937.3(CTNS):c.*1659C>T
|
rs778764728
|
0.00024
|
NM_005271.5(GLUD1):c.*1419T>G
|
rs895697576
|
0.00024
|
NM_005518.4(HMGCS2):c.570C>T (p.Ala190=)
|
rs201735169
|
0.00024
|
NM_005629.4(SLC6A8):c.1778A>G (p.His593Arg)
|
rs782560726
|
0.00024
|
NM_005763.4(AASS):c.2317T>A (p.Ser773Thr)
|
rs147414883
|
0.00024
|
NM_006445.4(PRPF8):c.1869G>C (p.Lys623Asn)
|
rs200389505
|
0.00024
|
NM_006721.4(ADK):c.429C>T (p.Cys143=)
|
rs142477111
|
0.00024
|
NM_006899.5(IDH3B):c.337+11C>T
|
rs117928032
|
0.00024
|
NM_006907.4(PYCR1):c.508G>A (p.Val170Ile)
|
rs199585131
|
0.00024
|
NM_012463.4(ATP6V0A2):c.*1803C>T
|
rs117646592
|
0.00024
|
NM_014014.5(SNRNP200):c.578A>G (p.Asp193Gly)
|
rs144423660
|
0.00024
|
NM_014270.5(SLC7A9):c.829G>A (p.Val277Met)
|
rs147344717
|
0.00024
|
NM_014714.4(IFT140):c.3173T>C (p.Leu1058Ser)
|
rs141471091
|
0.00024
|
NM_016247.4(IMPG2):c.*4374A>G
|
rs576192752
|
0.00024
|
NM_016579.4(CD320):c.478G>A (p.Asp160Asn)
|
rs188158114
|
0.00024
|
NM_020184.4(CNNM4):c.2130+5G>A
|
rs200517269
|
0.00024
|
NM_025136.4(OPA3):c.*2714C>T
|
rs781539538
|
0.00024
|
NM_032861.4(SERAC1):c.1688C>G (p.Ser563Cys)
|
rs146410859
|
0.00024
|
NM_058179.4(PSAT1):c.700G>T (p.Ala234Ser)
|
rs145496413
|
0.00024
|
NM_144596.4(TTC8):c.*92C>T
|
rs148799039
|
0.00024
|
NM_144631.6(ZNF513):c.1568G>A (p.Arg523Gln)
|
rs371030335
|
0.00024
|
NM_205861.3(DHDDS):c.908C>T (p.Ser303Leu)
|
rs141852437
|
0.00024
|
NM_000159.4(GCDH):c.738G>A (p.Ser246=)
|
rs188548539
|
0.00023
|
NM_000255.4(MMUT):c.*986G>A
|
rs886061552
|
0.00023
|
NM_000274.4(OAT):c.-12T>G
|
rs775990544
|
0.00023
|
NM_000277.3(PAH):c.1161C>T (p.Tyr387=)
|
rs149595475
|
0.00023
|
NM_000283.4(PDE6B):c.*271G>A
|
rs552530901
|
0.00023
|
NM_000360.4(TH):c.1349G>A (p.Arg450His)
|
rs138291013
|
0.00023
|
NM_000360.4(TH):c.1368C>T (p.Ser456=)
|
rs45538536
|
0.00023
|
NM_000440.3(PDE6A):c.282G>A (p.Met94Ile)
|
rs150808864
|
0.00023
|
NM_001029883.3(PCARE):c.*474T>C
|
rs757874160
|
0.00023
|
NM_001080.3(ALDH5A1):c.*1230T>G
|
rs778833032
|
0.00023
|
NM_001142800.2(EYS):c.2971C>T (p.Leu991Phe)
|
rs201819948
|
0.00023
|
NM_001242957.3(MAK):c.1834G>C (p.Gly612Arg)
|
rs201628941
|
0.00023
|
NM_001297.5(CNGB1):c.3366G>A (p.Lys1122=)
|
rs751822516
|
0.00023
|
NM_002454.3(MTRR):c.2071C>T (p.Arg691Cys)
|
rs148414435
|
0.00023
|
NM_003060.4(SLC22A5):c.-26G>A
|
rs369724970
|
0.00023
|
NM_003060.4(SLC22A5):c.1643G>A (p.Arg548Lys)
|
rs150775371
|
0.00023
|
NM_004172.5(SLC1A3):c.*1554T>G
|
rs986025125
|
0.00023
|
NM_004937.3(CTNS):c.444G>A (p.Met148Ile)
|
rs199977728
|
0.00023
|
NM_006915.3(RP2):c.*1176G>A
|
rs781850779
|
0.00023
|
NM_012463.4(ATP6V0A2):c.994G>A (p.Glu332Lys)
|
rs144949442
|
0.00023
|
NM_014014.5(SNRNP200):c.2665A>G (p.Ile889Val)
|
rs140087655
|
0.00023
|
NM_014270.5(SLC7A9):c.368C>T (p.Thr123Met)
|
rs79987078
|
0.00023
|
NM_022367.4(SEMA4A):c.*208A>G
|
rs143262805
|
0.00023
|
NM_033100.4(CDHR1):c.2001C>T (p.Ser667=)
|
rs139302633
|
0.00023
|
NM_054012.4(ASS1):c.240C>T (p.Ser80=)
|
rs147910468
|
0.00023
|
NM_183050.4(BCKDHB):c.*574A>G
|
rs527284649
|
0.00023
|
NM_206933.4(USH2A):c.313C>T (p.Leu105Phe)
|
rs375083165
|
0.00023
|
NM_206933.4(USH2A):c.6233C>G (p.Pro2078Arg)
|
rs150230450
|
0.00023
|
NM_212552.3(BOLA3):c.137G>A (p.Arg46Gln)
|
rs144366005
|
0.00023
|
NM_000045.4(ARG1):c.856C>A (p.Pro286Thr)
|
rs370022660
|
0.00022
|
NM_000071.3(CBS):c.1273G>A (p.Val425Met)
|
rs138211175
|
0.00022
|
NM_000108.5(DLD):c.321A>G (p.Ala107=)
|
rs138398782
|
0.00022
|
NM_000137.4(FAH):c.747A>G (p.Pro249=)
|
rs138757552
|
0.00022
|
NM_000161.3(GCH1):c.*612C>T
|
rs551381738
|
0.00022
|
NM_000161.3(GCH1):c.*715G>T
|
rs886050545
|
0.00022
|
NM_000187.4(HGD):c.835C>A (p.Leu279Met)
|
rs200382812
|
0.00022
|
NM_000187.4(HGD):c.8A>C (p.Glu3Ala)
|
rs200412910
|
0.00022
|
NM_000254.3(MTR):c.3770G>T (p.Gly1257Val)
|
rs374409316
|
0.00022
|
NM_000277.3(PAH):c.782G>A (p.Arg261Gln)
|
rs5030849
|
0.00022
|
NM_000281.4(PCBD1):c.*29G>A
|
rs539645507
|
0.00022
|
NM_000282.4(PCCA):c.965C>T (p.Ala322Val)
|
rs143527709
|
0.00022
|
NM_000326.5(RLBP1):c.796-6C>T
|
rs201866933
|
0.00022
|
NM_000360.4(TH):c.12C>T (p.Pro4=)
|
rs147131010
|
0.00022
|
NM_000372.5(TYR):c.1446G>C (p.Ala482=)
|
rs3913543
|
0.00022
|
NM_000387.6(SLC25A20):c.-2C>A
|
rs368937335
|
0.00022
|
NM_000481.4(AMT):c.697-3C>T
|
rs373703503
|
0.00022
|
NM_000485.3(APRT):c.376G>A (p.Val126Met)
|
rs75205792
|
0.00022
|
NM_000532.5(PCCB):c.544-5G>C
|
rs372351800
|
0.00022
|
NM_000554.6(CRX):c.-46C>T
|
rs755040084
|
0.00022
|
NM_001010898.4(SLC6A17):c.1723G>A (p.Val575Met)
|
rs143189177
|
0.00022
|
NM_001012720.2(RGR):c.*200C>T
|
rs764175932
|
0.00022
|
NM_001077620.3(PRCD):c.*1347C>T
|
rs780340686
|
0.00022
|
NM_001081.4(CUBN):c.8071G>A (p.Gly2691Arg)
|
rs1801237
|
0.00022
|
NM_001127222.2(CACNA1A):c.6505C>T (p.Arg2169Cys)
|
rs375354077
|
0.00022
|
NM_001201543.2(FAM161A):c.*1551A>C
|
rs181814580
|
0.00022
|
NM_001243279.3(ACSF3):c.728C>T (p.Pro243Leu)
|
rs140986055
|
0.00022
|
NM_001297.5(CNGB1):c.*1544T>C
|
rs551005635
|
0.00022
|
NM_001297.5(CNGB1):c.838-4G>T
|
rs375539469
|
0.00022
|
NM_001370658.1(BTD):c.-148C>T
|
rs774964227
|
0.00022
|
NM_001370658.1(BTD):c.1145A>G (p.Asn382Ser)
|
rs201023772
|
0.00022
|
NM_001482.3(GATM):c.701A>G (p.Asp234Gly)
|
rs146057680
|
0.00022
|
NM_001609.4(ACADSB):c.*3321C>T
|
rs775939335
|
0.00022
|
NM_001698.3(AUH):c.464G>C (p.Gly155Ala)
|
rs377491933
|
0.00022
|
NM_001985.3(ETFB):c.541G>A (p.Val181Met)
|
rs148443220
|
0.00022
|
NM_002497.4(NEK2):c.97-2A>G
|
rs201869074
|
0.00022
|
NM_003124.5(SPR):c.*410C>G
|
rs886056290
|
0.00022
|
NM_003748.4(ALDH4A1):c.1137C>T (p.Asp379=)
|
rs140704780
|
0.00022
|
NM_004183.4(BEST1):c.495G>A (p.Pro165=)
|
rs182941675
|
0.00022
|
NM_004744.5(LRAT):c.*3978C>T
|
rs886059180
|
0.00022
|
NM_005050.4(ABCD4):c.1465G>A (p.Asp489Asn)
|
rs139901585
|
0.00022
|
NM_005271.5(GLUD1):c.*970A>G
|
rs760207211
|
0.00022
|
NM_006017.3(PROM1):c.1780A>C (p.Ile594Leu)
|
rs200507858
|
0.00022
|
NM_006017.3(PROM1):c.2271C>T (p.Ile757=)
|
rs375986111
|
0.00022
|
NM_012469.4(PRPF6):c.1525-7C>T
|
rs200467198
|
0.00022
|
NM_014014.5(SNRNP200):c.46-7T>C
|
rs373701482
|
0.00022
|
NM_014049.5(ACAD9):c.1801G>A (p.Val601Met)
|
rs149595527
|
0.00022
|
NM_014714.4(IFT140):c.179G>A (p.Arg60Lys)
|
rs148093208
|
0.00022
|
NM_015662.3(IFT172):c.1426G>A (p.Gly476Ser)
|
rs147303046
|
0.00022
|
NM_018418.5(SPATA7):c.1112T>C (p.Ile371Thr)
|
rs150364664
|
0.00022
|
NM_025136.4(OPA3):c.*6698G>T
|
rs768694312
|
0.00022
|
NM_054012.4(ASS1):c.-4C>T
|
rs138350285
|
0.00022
|
NM_201253.3(CRB1):c.1450A>G (p.Thr484Ala)
|
rs144029476
|
0.00022
|
NM_206933.4(USH2A):c.10564A>G (p.Arg3522Gly)
|
rs147374057
|
0.00022
|
NM_206933.4(USH2A):c.7717C>T (p.Arg2573Cys)
|
rs140983855
|
0.00022
|
NM_206933.4(USH2A):c.8609C>T (p.Pro2870Leu)
|
rs200802261
|
0.00022
|
NM_000018.4(ACADVL):c.121G>A (p.Ala41Thr)
|
rs367705640
|
0.00021
|
NM_000019.4(ACAT1):c.816G>T (p.Gln272His)
|
rs139120939
|
0.00021
|
NM_000108.5(DLD):c.470C>G (p.Thr157Ser)
|
rs142232609
|
0.00021
|
NM_000182.5(HADHA):c.*586G>A
|
rs749568626
|
0.00021
|
NM_000182.5(HADHA):c.2175C>T (p.Gly725=)
|
rs375399631
|
0.00021
|
NM_000274.4(OAT):c.740T>C (p.Met247Thr)
|
rs140966644
|
0.00021
|
NM_000282.4(PCCA):c.-20G>A
|
rs374941593
|
0.00021
|
NM_000282.4(PCCA):c.2101G>C (p.Ala701Pro)
|
rs143096615
|
0.00021
|
NM_000485.3(APRT):c.346G>A (p.Ala116Thr)
|
rs201944035
|
0.00021
|
NM_000554.6(CRX):c.778G>A (p.Ala260Thr)
|
rs370592248
|
0.00021
|
NM_000709.4(BCKDHA):c.1251C>T (p.Pro417=)
|
rs147021347
|
0.00021
|
NM_000709.4(BCKDHA):c.125A>G (p.Gln42Arg)
|
rs150177278
|
0.00021
|
NM_000717.5(CA4):c.575A>G (p.Lys192Arg)
|
rs147624521
|
0.00021
|
NM_000883.4(IMPDH1):c.-73G>C
|
rs906905615
|
0.00021
|
NM_001029883.3(PCARE):c.*400G>A
|
rs185127491
|
0.00021
|
NM_001029883.3(PCARE):c.*903A>G
|
rs146133810
|
0.00021
|
NM_001029883.3(PCARE):c.*997G>A
|
rs148591627
|
0.00021
|
NM_001029883.3(PCARE):c.1648G>A (p.Glu550Lys)
|
rs200809211
|
0.00021
|
NM_001031710.3(KLHL7):c.*325G>A
|
rs567516489
|
0.00021
|
NM_001080.3(ALDH5A1):c.50C>T (p.Ser17Leu)
|
rs753168976
|
0.00021
|
NM_001081.4(CUBN):c.4702G>A (p.Asp1568Asn)
|
rs533512333
|
0.00021
|
NM_001081.4(CUBN):c.9079G>A (p.Gly3027Arg)
|
rs150202444
|
0.00021
|
NM_001127222.2(CACNA1A):c.3822C>T (p.Asn1274=)
|
rs201230929
|
0.00021
|
NM_001142800.2(EYS):c.1056+11A>G
|
rs201004766
|
0.00021
|
NM_001142800.2(EYS):c.2027C>T (p.Thr676Met)
|
rs199944222
|
0.00021
|
NM_001142800.2(EYS):c.4991C>T (p.Thr1664Ile)
|
rs561830314
|
0.00021
|
NM_001142800.2(EYS):c.7723+9T>C
|
rs766087392
|
0.00021
|
NM_001195087.2(GGACT):c.*1930T>G
|
rs770148620
|
0.00021
|
NM_001244926.2(PRPF4):c.1504G>A (p.Asp502Asn)
|
rs141207203
|
0.00021
|
NM_001378615.1(CC2D2A):c.2560T>G (p.Trp854Gly)
|
rs747204358
|
0.00021
|
NM_001739.2(CA5A):c.575C>T (p.Thr192Met)
|
rs145215237
|
0.00021
|
NM_001875.5(CPS1):c.234A>G (p.Gly78=)
|
rs182678639
|
0.00021
|
NM_001875.5(CPS1):c.5C>T (p.Thr2Met)
|
rs150314086
|
0.00021
|
NM_001918.5(DBT):c.*2092A>T
|
rs1055914530
|
0.00021
|
NM_001918.5(DBT):c.*5875T>G
|
rs761370134
|
0.00021
|
NM_001985.3(ETFB):c.227G>A (p.Arg76His)
|
rs148567433
|
0.00021
|
NM_002108.4(HAL):c.*1119dup
|
rs886049896
|
0.00021
|
NM_002225.5(IVD):c.408G>C (p.Gln136His)
|
rs569537063
|
0.00021
|
NM_002454.3(MTRR):c.505G>A (p.Val169Met)
|
rs147742177
|
0.00021
|
NM_002900.3(RBP3):c.1514A>T (p.His505Leu)
|
rs201808774
|
0.00021
|
NM_003060.4(SLC22A5):c.1053-3C>T
|
rs149201271
|
0.00021
|
NM_003322.6(TULP1):c.603G>A (p.Gly201=)
|
rs117920214
|
0.00021
|
NM_004172.5(SLC1A3):c.*733G>A
|
rs542557347
|
0.00021
|
NM_004937.3(CTNS):c.*129C>T
|
rs746209035
|
0.00021
|
NM_005518.4(HMGCS2):c.347G>A (p.Arg116His)
|
rs147906427
|
0.00021
|
NM_005957.5(MTHFR):c.3G>C (p.Met1Ile)
|
rs373076763
|
0.00021
|
NM_006017.3(PROM1):c.181A>G (p.Ile61Val)
|
rs201701647
|
0.00021
|
NM_006269.2(RP1):c.6055G>A (p.Gly2019Ser)
|
rs137853908
|
0.00021
|
NM_006623.4(PHGDH):c.412-15C>T
|
rs368681081
|
0.00021
|
NM_012463.4(ATP6V0A2):c.*271A>G
|
rs886049064
|
0.00021
|
NM_012463.4(ATP6V0A2):c.2014T>C (p.Leu672=)
|
rs367950442
|
0.00021
|
NM_012463.4(ATP6V0A2):c.447T>C (p.Tyr149=)
|
rs140835376
|
0.00021
|
NM_014249.4(NR2E3):c.524C>G (p.Ala175Gly)
|
rs567617489
|
0.00021
|
NM_014270.5(SLC7A9):c.814G>A (p.Val272Met)
|
rs774871326
|
0.00021
|
NM_014336.5(AIPL1):c.737A>C (p.Tyr246Ser)
|
rs138585919
|
0.00021
|
NM_014714.4(IFT140):c.561G>T (p.Lys187Asn)
|
rs139286030
|
0.00021
|
NM_014748.4(SNX17):c.*652C>T
|
rs558608689
|
0.00021
|
NM_015662.3(IFT172):c.2350C>T (p.Arg784Trp)
|
rs137906877
|
0.00021
|
NM_017739.4(POMGNT1):c.269G>A (p.Arg90His)
|
rs139701867
|
0.00021
|
NM_018418.5(SPATA7):c.364T>A (p.Leu122Ile)
|
rs202230167
|
0.00021
|
NM_018418.5(SPATA7):c.387G>A (p.Pro129=)
|
rs199727517
|
0.00021
|
NM_018706.7(DHTKD1):c.847A>G (p.Met283Val)
|
rs145337285
|
0.00021
|
NM_020166.5(MCCC1):c.2171C>T (p.Ser724Leu)
|
rs201806708
|
0.00021
|
NM_020686.6(ABAT):c.*1704G>C
|
rs752676943
|
0.00021
|
NM_020949.3(SLC7A14):c.1246C>T (p.Leu416Phe)
|
rs753129566
|
0.00021
|
NM_022132.5(MCCC2):c.1657A>G (p.Ile553Val)
|
rs143156315
|
0.00021
|
NM_025136.4(OPA3):c.*3891C>T
|
rs752997579
|
0.00021
|
NM_025136.4(OPA3):c.*5570C>T
|
rs766783593
|
0.00021
|
NM_032316.3(NICN1):c.*2247T>C
|
rs750502117
|
0.00021
|
NM_052845.4(MMAB):c.333C>T (p.Ala111=)
|
rs769385276
|
0.00021
|
NM_054012.4(ASS1):c.710A>G (p.Asn237Ser)
|
rs565520844
|
0.00021
|
NM_144596.4(TTC8):c.1262G>C (p.Arg421Thr)
|
rs374742528
|
0.00021
|
NM_144596.4(TTC8):c.1417A>G (p.Thr473Ala)
|
rs376411291
|
0.00021
|
NM_177972.3(TUB):c.364G>A (p.Ala122Thr)
|
rs201324153
|
0.00021
|
NC_000022.11:g.40345598C>G
|
rs941360483
|
0.00020
|
NM_000017.4(ACADS):c.795+6C>T
|
rs376682235
|
0.00020
|
NM_000019.4(ACAT1):c.979A>G (p.Ile327Val)
|
rs150038447
|
0.00020
|
NM_000071.3(CBS):c.856A>G (p.Ile286Val)
|
rs147040567
|
0.00020
|
NM_000108.5(DLD):c.*1092C>T
|
rs546777301
|
0.00020
|
NM_000182.5(HADHA):c.2131C>A (p.Pro711Thr)
|
rs138966725
|
0.00020
|
NM_000254.3(MTR):c.1982T>C (p.Ile661Thr)
|
rs148897041
|
0.00020
|
NM_000255.4(MMUT):c.1808+15T>C
|
rs369131814
|
0.00020
|
NM_000322.5(PRPH2):c.*661G>A
|
rs753202254
|
0.00020
|
NM_000440.3(PDE6A):c.853C>A (p.Gln285Lys)
|
rs201406216
|
0.00020
|
NM_000539.3(RHO):c.630C>T (p.Val210=)
|
rs371192803
|
0.00020
|
NM_000554.6(CRX):c.203C>T (p.Ala68Val)
|
rs145649717
|
0.00020
|
NM_000554.6(CRX):c.549G>A (p.Gly183=)
|
rs61748451
|
0.00020
|
NM_000687.4(AHCY):c.*583G>C
|
rs552690185
|
0.00020
|
NM_001029883.3(PCARE):c.177G>C (p.Glu59Asp)
|
rs151202941
|
0.00020
|
NM_001080.3(ALDH5A1):c.1344-6T>C
|
rs368212282
|
0.00020
|
NM_001102564.3(IFT43):c.296-5602T>C
|
rs141114765
|
0.00020
|
NM_001142800.2(EYS):c.2470T>C (p.Cys824Arg)
|
rs761721655
|
0.00020
|
NM_001243279.3(ACSF3):c.1704G>A (p.Ala568=)
|
rs539500659
|
0.00020
|
NM_001379270.1(CNGA1):c.*62A>T
|
rs553735132
|
0.00020
|
NM_001876.4(CPT1A):c.1702G>T (p.Ala568Ser)
|
rs1046804
|
0.00020
|
NM_001918.5(DBT):c.*4250C>T
|
rs774122510
|
0.00020
|
NM_002900.3(RBP3):c.1083G>C (p.Thr361=)
|
rs146487673
|
0.00020
|
NM_005518.4(HMGCS2):c.953A>G (p.Asn318Ser)
|
rs766507770
|
0.00020
|
NM_005589.4(ALDH6A1):c.*991G>A
|
rs945903840
|
0.00020
|
NM_005802.5(TOPORS):c.*117A>G
|
rs752719297
|
0.00020
|
NM_006017.3(PROM1):c.678G>A (p.Ala226=)
|
rs187116049
|
0.00020
|
NM_006343.3(MERTK):c.*111G>A
|
rs367613631
|
0.00020
|
NM_016335.6(PRODH):c.1729C>T (p.Arg577Trp)
|
rs184218784
|
0.00020
|
NM_025136.4(OPA3):c.*5739C>T
|
rs375835737
|
0.00020
|
NM_052845.4(MMAB):c.*3142G>A
|
rs747166756
|
0.00020
|
NM_058179.4(PSAT1):c.*554G>A
|
rs376749590
|
0.00020
|
NM_172250.3(MMAA):c.*2471G>A
|
rs886059106
|
0.00020
|
NM_183050.4(BCKDHB):c.*1315G>A
|
rs760136719
|
0.00020
|
NM_183050.4(BCKDHB):c.*921C>T
|
rs542630714
|
0.00020
|
NM_201548.5(CERKL):c.900T>C (p.His300=)
|
rs183252158
|
0.00020
|
NM_000026.4(ADSL):c.1115G>A (p.Arg372His)
|
rs150228971
|
0.00019
|
NM_000026.4(ADSL):c.357+7G>A
|
rs199993991
|
0.00019
|
NM_000045.3(ARG1):c.-70A>G
|
rs192353153
|
0.00019
|
NM_000045.4(ARG1):c.-21A>C
|
rs370747314
|
0.00019
|
NM_000045.4(ARG1):c.472G>A (p.Asp158Asn)
|
rs751647696
|
0.00019
|
NM_000048.4(ASL):c.655+8G>A
|
rs200203985
|
0.00019
|
NM_000071.3(CBS):c.397G>A (p.Asp133Asn)
|
rs539326697
|
0.00019
|
NM_000071.3(CBS):c.5C>T (p.Pro2Leu)
|
rs546530618
|
0.00019
|
NM_000137.4(FAH):c.-23A>C
|
rs200127538
|
0.00019
|
NM_000156.6(GAMT):c.328-10C>T
|
rs371511930
|
0.00019
|
NM_000170.3(GLDC):c.1530G>A (p.Gly510=)
|
rs145665442
|
0.00019
|
NM_000170.3(GLDC):c.2570-10T>C
|
rs373987254
|
0.00019
|
NM_000240.4(MAOA):c.1438-3T>C
|
rs202232897
|
0.00019
|
NM_000255.4(MMUT):c.284C>T (p.Pro95Leu)
|
rs190834116
|
0.00019
|
NM_000255.4(MMUT):c.781A>G (p.Ile261Val)
|
rs375054307
|
0.00019
|
NM_000274.4(OAT):c.107G>C (p.Gly36Ala)
|
rs140786333
|
0.00019
|
NM_000277.3(PAH):c.*272C>T
|
rs928972999
|
0.00019
|
NM_000277.3(PAH):c.399T>C (p.Asn133=)
|
rs145692106
|
0.00019
|
NM_000283.4(PDE6B):c.1805G>A (p.Arg602His)
|
rs752846577
|
0.00019
|
NM_000322.5(PRPH2):c.*1299C>T
|
rs535380944
|
0.00019
|
NM_000322.5(PRPH2):c.367C>T (p.Arg123Trp)
|
rs563581127
|
0.00019
|
NM_000326.5(RLBP1):c.647G>A (p.Arg216Gln)
|
rs200488706
|
0.00019
|
NM_000329.3(RPE65):c.*886T>C
|
rs111811751
|
0.00019
|
NM_000341.4(SLC3A1):c.901C>T (p.Arg301Trp)
|
rs200001296
|
0.00019
|
NM_000350.3(ABCA4):c.3608G>A (p.Gly1203Glu)
|
rs146786552
|
0.00019
|
NM_000353.3(TAT):c.*219G>A
|
rs183020305
|
0.00019
|
NM_000353.3(TAT):c.*30C>A
|
rs375492740
|
0.00019
|
NM_000360.4(TH):c.1423G>A (p.Val475Met)
|
rs147585774
|
0.00019
|
NM_000440.3(PDE6A):c.1936A>G (p.Ile646Val)
|
rs147047715
|
0.00019
|
NM_000440.3(PDE6A):c.316G>A (p.Ala106Thr)
|
rs200696413
|
0.00019
|
NM_000485.3(APRT):c.411C>T (p.Asn137=)
|
rs142472789
|
0.00019
|
NM_000541.5(SAG):c.1167T>A (p.Asp389Glu)
|
rs199798289
|
0.00019
|
NM_000709.4(BCKDHA):c.*314A>G
|
rs535136507
|
0.00019
|
NM_000709.4(BCKDHA):c.843C>T (p.Gly281=)
|
rs371343548
|
0.00019
|
NM_000717.5(CA4):c.258C>T (p.Asn86=)
|
rs185476073
|
0.00019
|
NM_000883.4(IMPDH1):c.1653C>T (p.His551=)
|
rs147882304
|
0.00019
|
NM_001012720.2(RGR):c.385G>A (p.Val129Ile)
|
rs138630905
|
0.00019
|
NM_001029883.3(PCARE):c.3705G>A (p.Pro1235=)
|
rs191767954
|
0.00019
|
NM_001080.3(ALDH5A1):c.831G>A (p.Val277=)
|
rs138912422
|
0.00019
|
NM_001081.4(CUBN):c.10293C>T (p.His3431=)
|
rs1266678482
|
0.00019
|
NM_001081.4(CUBN):c.388-3C>T
|
rs367626184
|
0.00019
|
NM_001081.4(CUBN):c.6020C>T (p.Thr2007Met)
|
rs140202552
|
0.00019
|
NM_001081.4(CUBN):c.6479A>G (p.Asp2160Gly)
|
rs144704318
|
0.00019
|
NM_001081.4(CUBN):c.8203G>T (p.Asp2735Tyr)
|
rs149802222
|
0.00019
|
NM_001081.4(CUBN):c.8412T>C (p.Gly2804=)
|
rs139990077
|
0.00019
|
NM_001081.4(CUBN):c.9597C>T (p.Leu3199=)
|
rs200457480
|
0.00019
|
NM_001102564.3(IFT43):c.16G>C (p.Asp6His)
|
rs201966792
|
0.00019
|
NM_001142800.2(EYS):c.2302T>A (p.Cys768Ser)
|
rs374204063
|
0.00019
|
NM_001142800.2(EYS):c.2309A>C (p.Gln770Pro)
|
rs398123574
|
0.00019
|
NM_001142800.2(EYS):c.2822G>T (p.Gly941Val)
|
rs749101387
|
0.00019
|
NM_001142800.2(EYS):c.7751C>G (p.Thr2584Ser)
|
rs557892188
|
0.00019
|
NM_001193313.2(SUGCT):c.301C>T (p.Arg101Ter)
|
rs137852862
|
0.00019
|
NM_001195087.2(GGACT):c.*1848C>T
|
rs886049929
|
0.00019
|
NM_001201543.2(FAM161A):c.*802A>G
|
rs541819550
|
0.00019
|
NM_001242957.3(MAK):c.356A>G (p.His119Arg)
|
rs200506656
|
0.00019
|
NM_001243279.3(ACSF3):c.1411C>T (p.Arg471Trp)
|
rs138680796
|
0.00019
|
NM_001243279.3(ACSF3):c.497C>T (p.Pro166Leu)
|
rs781425127
|
0.00019
|
NM_001243279.3(ACSF3):c.721G>A (p.Val241Met)
|
rs145141190
|
0.00019
|
NM_001352514.2(HLCS):c.*1852G>T
|
rs551457805
|
0.00019
|
NM_001370348.2(PHF3):c.*6374T>C
|
rs1017192510
|
0.00019
|
NM_001609.4(ACADSB):c.*3597G>A
|
rs755235760
|
0.00019
|
NM_002150.3(HPD):c.*191C>T
|
rs886049036
|
0.00019
|
NM_002225.5(IVD):c.*805G>A
|
rs183425220
|
0.00019
|
NM_002900.3(RBP3):c.1840G>A (p.Asp614Asn)
|
rs149642039
|
0.00019
|
NM_002900.3(RBP3):c.2626G>T (p.Ala876Ser)
|
rs138240045
|
0.00019
|
NM_003124.5(SPR):c.*50C>T
|
rs760241473
|
0.00019
|
NM_003748.4(ALDH4A1):c.150G>A (p.Leu50=)
|
rs201605414
|
0.00019
|
NM_003982.4(SLC7A7):c.1400A>T (p.Lys467Met)
|
rs199522527
|
0.00019
|
NM_003982.4(SLC7A7):c.1405C>T (p.Pro469Ser)
|
rs201550655
|
0.00019
|
NM_004453.4(ETFDH):c.1048C>T (p.Arg350Trp)
|
rs375172942
|
0.00019
|
NM_004577.3(PSPH):c.-683G>C
|
rs148855313
|
0.00019
|
NM_004577.3(PSPH):c.-708C>A
|
rs187219685
|
0.00019
|
NM_004577.4(PSPH):c.*457C>T
|
rs1318551050
|
0.00019
|
NM_004577.4(PSPH):c.-485A>G
|
rs530804173
|
0.00019
|
NM_004698.4(PRPF3):c.501A>G (p.Thr167=)
|
rs146995242
|
0.00019
|
NM_004937.3(CTNS):c.*431C>T
|
rs886052868
|
0.00019
|
NM_005050.4(ABCD4):c.1325G>A (p.Arg442Gln)
|
rs199986349
|
0.00019
|
NM_005334.3(HCFC1):c.905-3C>T
|
rs200367055
|
0.00019
|
NM_005802.5(TOPORS):c.2347G>C (p.Gly783Arg)
|
rs148620735
|
0.00019
|
NM_005957.5(MTHFR):c.1949C>T (p.Ala650Val)
|
rs145544233
|
0.00019
|
NM_006017.3(PROM1):c.843C>T (p.His281=)
|
rs374394451
|
0.00019
|
NM_006623.4(PHGDH):c.1258G>A (p.Glu420Lys)
|
rs140979375
|
0.00019
|
NM_012213.3(MLYCD):c.641+11C>T
|
rs200841672
|
0.00019
|
NM_012463.4(ATP6V0A2):c.1430A>T (p.Asn477Ile)
|
rs532258057
|
0.00019
|
NM_014014.5(SNRNP200):c.2122G>A (p.Val708Ile)
|
rs191245006
|
0.00019
|
NM_014251.3(SLC25A13):c.*792C>T
|
rs574119069
|
0.00019
|
NM_014251.3(SLC25A13):c.1354G>A (p.Val452Ile)
|
rs143877538
|
0.00019
|
NM_014252.4(SLC25A15):c.55+6G>C
|
rs200219313
|
0.00019
|
NM_014714.4(IFT140):c.1417G>A (p.Ala473Thr)
|
rs149642543
|
0.00019
|
NM_014714.4(IFT140):c.4381G>A (p.Asp1461Asn)
|
rs201065562
|
0.00019
|
NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu)
|
rs201312386
|
0.00019
|
NM_015509.4(NECAP1):c.791A>G (p.Asn264Ser)
|
rs145154841
|
0.00019
|
NM_015629.4(PRPF31):c.697+10C>T
|
rs369722854
|
0.00019
|
NM_015662.3(IFT172):c.235A>G (p.Thr79Ala)
|
rs752069515
|
0.00019
|
NM_015662.3(IFT172):c.4147G>A (p.Glu1383Lys)
|
rs147668131
|
0.00019
|
NM_016247.4(IMPG2):c.*1162T>C
|
rs560772211
|
0.00019
|
NM_016247.4(IMPG2):c.*3467G>A
|
rs1039410358
|
0.00019
|
NM_020208.4(SLC6A20):c.1646A>G (p.Lys549Arg)
|
rs141811843
|
0.00019
|
NM_020686.6(ABAT):c.*1110A>C
|
rs886052437
|
0.00019
|
NM_020686.6(ABAT):c.*2352G>C
|
rs886052446
|
0.00019
|
NM_025136.4(OPA3):c.*5013A>G
|
rs780964248
|
0.00019
|
NM_025136.4(OPA3):c.*6072A>G
|
rs576104602
|
0.00019
|
NM_031885.3(BBS2):c.-190G>C
|
rs555974619
|
0.00019
|
NM_031885.5(BBS2):c.1927C>T (p.Arg643Cys)
|
rs147397090
|
0.00019
|
NM_031885.5(BBS2):c.725A>G (p.Asn242Ser)
|
rs199898889
|
0.00019
|
NM_033100.4(CDHR1):c.*1174G>A
|
rs886047341
|
0.00019
|
NM_052845.4(MMAB):c.*2914G>A
|
rs759971406
|
0.00019
|
NM_054012.4(ASS1):c.299G>A (p.Arg100His)
|
rs138279074
|
0.00019
|
NM_144631.6(ZNF513):c.-24C>A
|
rs780603445
|
0.00019
|
NM_152443.3(RDH12):c.195A>C (p.Arg65=)
|
rs771614823
|
0.00019
|
NM_172250.3(MMAA):c.701C>T (p.Ala234Val)
|
rs367609164
|
0.00019
|
NM_177965.4(CFAP418):c.*1474G>A
|
rs147952646
|
0.00019
|
NM_178857.6(RP1L1):c.5132G>C (p.Gly1711Ala)
|
rs200635063
|
0.00019
|
NM_201253.3(CRB1):c.2462C>T (p.Thr821Met)
|
rs142857810
|
0.00019
|
NM_201253.3(CRB1):c.4060G>A (p.Ala1354Thr)
|
rs200469148
|
0.00019
|
NM_201548.5(CERKL):c.1237G>T (p.Val413Leu)
|
rs145489428
|
0.00019
|
NM_201548.5(CERKL):c.1452G>C (p.Glu484Asp)
|
rs146279858
|
0.00019
|
NM_206933.4(USH2A):c.1539C>T (p.Thr513=)
|
rs199939890
|
0.00019
|
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu)
|
rs201709513
|
0.00019
|
NM_000016.6(ACADM):c.-29T>C
|
rs763024539
|
0.00018
|
NM_000191.3(HMGCL):c.*338G>C
|
rs988536831
|
0.00018
|
NM_000255.4(MMUT):c.1332+3A>C
|
rs367641890
|
0.00018
|
NM_000255.4(MMUT):c.1763G>T (p.Arg588Leu)
|
rs141829043
|
0.00018
|
NM_000283.4(PDE6B):c.2548A>G (p.Thr850Ala)
|
rs141647790
|
0.00018
|
NM_000481.4(AMT):c.1136A>C (p.Glu379Ala)
|
rs201189946
|
0.00018
|
NM_000541.5(SAG):c.1132G>A (p.Val378Ile)
|
rs200602069
|
0.00018
|
NM_000554.6(CRX):c.*205G>A
|
rs995250251
|
0.00018
|
NM_000666.3(ACY1):c.1100G>A (p.Arg367His)
|
rs201647575
|
0.00018
|
NM_000687.4(AHCY):c.1000C>T (p.Arg334Cys)
|
rs150066229
|
0.00018
|
NM_000883.4(IMPDH1):c.71G>C (p.Arg24Pro)
|
rs946898300
|
0.00018
|
NM_001029883.3(PCARE):c.3044C>A (p.Ser1015Tyr)
|
rs202196567
|
0.00018
|
NM_001080.3(ALDH5A1):c.518G>A (p.Arg173His)
|
rs369366567
|
0.00018
|
NM_001081.4(CUBN):c.349-9T>C
|
rs375431948
|
0.00018
|
NM_001081.4(CUBN):c.8084G>A (p.Gly2695Asp)
|
rs142667203
|
0.00018
|
NM_001142800.2(EYS):c.2439C>T (p.Cys813=)
|
rs367546131
|
0.00018
|
NM_001201543.2(FAM161A):c.717G>A (p.Pro239=)
|
rs377016856
|
0.00018
|
NM_001243279.3(ACSF3):c.129C>T (p.Ser43=)
|
rs147915828
|
0.00018
|
NM_001243279.3(ACSF3):c.1613+3A>C
|
rs373631805
|
0.00018
|
NM_001297.5(CNGB1):c.*1149G>A
|
rs886052187
|
0.00018
|
NM_001297.5(CNGB1):c.*820G>A
|
rs184852651
|
0.00018
|
NM_001297.5(CNGB1):c.139G>A (p.Glu47Lys)
|
rs78149232
|
0.00018
|
NM_001352514.2(HLCS):c.*3156A>G
|
rs886738924
|
0.00018
|
NM_001352514.2(HLCS):c.2615G>A (p.Arg872Gln)
|
rs147474255
|
0.00018
|
NM_001394090.1(CFAP92):c.3280+2291G>A
|
rs189130789
|
0.00018
|
NM_001739.2(CA5A):c.433G>A (p.Val145Met)
|
rs138476706
|
0.00018
|
NM_001875.5(CPS1):c.3626T>C (p.Met1209Thr)
|
rs200569046
|
0.00018
|
NM_002108.4(HAL):c.493G>A (p.Gly165Ser)
|
rs137949606
|
0.00018
|
NM_002225.5(IVD):c.38C>T (p.Ala13Val)
|
rs189587579
|
0.00018
|
NM_003060.4(SLC22A5):c.*1244C>T
|
rs184494469
|
0.00018
|
NM_003060.4(SLC22A5):c.1377A>G (p.Arg459=)
|
rs142264458
|
0.00018
|
NM_004744.5(LRAT):c.*2854A>G
|
rs745679958
|
0.00018
|
NM_004937.3(CTNS):c.697G>A (p.Val233Met)
|
rs201058200
|
0.00018
|
NM_005148.4(UNC119):c.*287T>G
|
rs746762474
|
0.00018
|
NM_005518.4(HMGCS2):c.274C>G (p.Arg92Gly)
|
rs771955824
|
0.00018
|
NM_005957.5(MTHFR):c.868A>G (p.Asn290Asp)
|
rs368735885
|
0.00018
|
NM_012213.3(MLYCD):c.135C>T (p.Arg45=)
|
rs767969074
|
0.00018
|
NM_012469.4(PRPF6):c.438+15C>T
|
rs371384048
|
0.00018
|
NM_014014.5(SNRNP200):c.4678A>G (p.Ile1560Val)
|
rs78715863
|
0.00018
|
NM_014251.3(SLC25A13):c.-127G>A
|
rs886062532
|
0.00018
|
NM_014270.5(SLC7A9):c.1199G>A (p.Arg400Lys)
|
rs202069562
|
0.00018
|
NM_016247.4(IMPG2):c.*3740C>T
|
rs532966833
|
0.00018
|
NM_020686.6(ABAT):c.*2284A>C
|
rs984367608
|
0.00018
|
NM_025136.4(OPA3):c.*3278C>T
|
rs770317628
|
0.00018
|
NM_025136.4(OPA3):c.*5597C>T
|
rs560019290
|
0.00018
|
NM_033100.4(CDHR1):c.*583G>A
|
rs886047333
|
0.00018
|
NM_152419.3(HGSNAT):c.493C>T (p.Pro165Ser)
|
rs371273730
|
0.00018
|
NM_201548.5(CERKL):c.134G>A (p.Arg45Gln)
|
rs568128856
|
0.00018
|
NM_201548.5(CERKL):c.314G>A (p.Arg105Gln)
|
rs529313774
|
0.00018
|
NM_206933.4(USH2A):c.5179C>T (p.Leu1727Phe)
|
rs368058316
|
0.00018
|
NM_206933.4(USH2A):c.9041C>A (p.Thr3014Asn)
|
rs144892841
|
0.00018
|
NM_000026.4(ADSL):c.*45A>T
|
rs180726920
|
0.00017
|
NM_000159.4(GCDH):c.952G>A (p.Asp318Asn)
|
rs761135089
|
0.00017
|
NM_000170.3(GLDC):c.2307C>T (p.Pro769=)
|
rs565834029
|
0.00017
|
NM_000255.4(MMUT):c.1333-8C>T
|
rs199555550
|
0.00017
|
NM_000282.4(PCCA):c.328G>C (p.Val110Leu)
|
rs150788587
|
0.00017
|
NM_000282.4(PCCA):c.382A>G (p.Met128Val)
|
rs144201462
|
0.00017
|
NM_000322.5(PRPH2):c.-166G>A
|
rs886061407
|
0.00017
|
NM_000322.5(PRPH2):c.252C>T (p.Asp84=)
|
rs139936445
|
0.00017
|
NM_000360.4(TH):c.391T>G (p.Phe131Val)
|
rs200536568
|
0.00017
|
NM_000360.4(TH):c.679G>A (p.Glu227Lys)
|
rs536382000
|
0.00017
|
NM_000372.5(TYR):c.915C>A (p.Asp305Glu)
|
rs142170797
|
0.00017
|
NM_000440.3(PDE6A):c.196C>T (p.Arg66Trp)
|
rs149945348
|
0.00017
|
NM_000481.4(AMT):c.*424G>C
|
rs746995778
|
0.00017
|
NM_000481.4(AMT):c.363C>T (p.Asn121=)
|
rs367604855
|
0.00017
|
NM_000554.6(CRX):c.*1759G>T
|
rs886054558
|
0.00017
|
NM_000883.4(IMPDH1):c.1226G>A (p.Gly409Asp)
|
rs375914533
|
0.00017
|
NM_001002755.4(NFU1):c.17G>A (p.Arg6Lys)
|
rs746094022
|
0.00017
|
NM_001003841.3(SLC6A19):c.1545T>A (p.Asn515Lys)
|
rs372599057
|
0.00017
|
NM_001029883.3(PCARE):c.*1844C>G
|
rs146988491
|
0.00017
|
NM_001081.4(CUBN):c.*940A>G
|
rs560609264
|
0.00017
|
NM_001081.4(CUBN):c.3995A>G (p.Asn1332Ser)
|
rs370803308
|
0.00017
|
NM_001081.4(CUBN):c.5796A>G (p.Glu1932=)
|
rs376536525
|
0.00017
|
NM_001102564.3(IFT43):c.444+5G>A
|
rs377078385
|
0.00017
|
NM_001142800.2(EYS):c.719A>G (p.Tyr240Cys)
|
rs150502410
|
0.00017
|
NM_001297.5(CNGB1):c.1803C>A (p.Ser601=)
|
rs201290058
|
0.00017
|
NM_001370658.1(BTD):c.1310T>C (p.Val437Ala)
|
rs149690919
|
0.00017
|
NM_001482.3(GATM):c.160G>A (p.Asp54Asn)
|
rs780777061
|
0.00017
|
NM_001609.4(ACADSB):c.*84G>A
|
rs574895675
|
0.00017
|
NM_001609.4(ACADSB):c.795C>T (p.Phe265=)
|
rs150619709
|
0.00017
|
NM_001875.5(CPS1):c.3057T>C (p.Thr1019=)
|
rs150601728
|
0.00017
|
NM_001876.4(CPT1A):c.851G>A (p.Arg284His)
|
rs144866081
|
0.00017
|
NM_001918.5(DBT):c.*9153_*9156del
|
rs780877675
|
0.00017
|
NM_003060.4(SLC22A5):c.852C>T (p.Leu284=)
|
rs146185976
|
0.00017
|
NM_003748.4(ALDH4A1):c.*646G>A
|
rs567528405
|
0.00017
|
NM_003982.4(SLC7A7):c.954A>T (p.Leu318Phe)
|
rs201534081
|
0.00017
|
NM_004172.5(SLC1A3):c.*1445A>T
|
rs764991205
|
0.00017
|
NM_005148.4(UNC119):c.169A>T (p.Lys57Ter)
|
rs267607166
|
0.00017
|
NM_005327.7(HADH):c.809C>T (p.Thr270Met)
|
rs577954688
|
0.00017
|
NM_005334.3(HCFC1):c.4417A>G (p.Thr1473Ala)
|
rs201714172
|
0.00017
|
NM_005589.4(ALDH6A1):c.112-15G>T
|
rs752587472
|
0.00017
|
NM_005802.5(TOPORS):c.*300A>G
|
rs911094732
|
0.00017
|
NM_005802.5(TOPORS):c.2862A>C (p.Thr954=)
|
rs143560726
|
0.00017
|
NM_006269.2(RP1):c.2386G>A (p.Gly796Ser)
|
rs202031905
|
0.00017
|
NM_006445.4(PRPF8):c.-68C>T
|
rs761491187
|
0.00017
|
NM_014014.5(SNRNP200):c.4029C>T (p.Asp1343=)
|
rs145242546
|
0.00017
|
NM_014336.5(AIPL1):c.1108C>T (p.Pro370Ser)
|
rs139079107
|
0.00017
|
NM_014748.4(SNX17):c.*811G>A
|
rs377145066
|
0.00017
|
NM_015662.3(IFT172):c.2976-3C>T
|
rs371847154
|
0.00017
|
NM_015662.3(IFT172):c.3400C>T (p.Arg1134Trp)
|
rs139223261
|
0.00017
|
NM_015662.3(IFT172):c.3435T>G (p.His1145Gln)
|
rs202111577
|
0.00017
|
NM_016247.4(IMPG2):c.1382C>G (p.Thr461Arg)
|
rs201905772
|
0.00017
|
NM_018368.4(LMBRD1):c.430A>G (p.Thr144Ala)
|
rs12214456
|
0.00017
|
NM_018418.5(SPATA7):c.1717A>G (p.Lys573Glu)
|
rs148392950
|
0.00017
|
NM_020686.6(ABAT):c.*1142G>T
|
rs574524165
|
0.00017
|
NM_025136.4(OPA3):c.*5923G>A
|
rs149788703
|
0.00017
|
NM_025136.4(OPA3):c.*6626G>A
|
rs139757997
|
0.00017
|
NM_033100.4(CDHR1):c.44G>T (p.Arg15Leu)
|
rs74903725
|
0.00017
|
NM_052845.4(MMAB):c.*2636A>G
|
rs748949434
|
0.00017
|
NM_152419.3(HGSNAT):c.812G>A (p.Ser271Asn)
|
rs554146681
|
0.00017
|
NM_172250.3(MMAA):c.630A>G (p.Pro210=)
|
rs374347679
|
0.00017
|
NM_177550.5(SLC13A5):c.1372G>A (p.Val458Met)
|
rs372801738
|
0.00017
|
NM_177972.3(TUB):c.1270G>A (p.Glu424Lys)
|
rs370188104
|
0.00017
|
NM_201253.3(CRB1):c.2225T>C (p.Phe742Ser)
|
rs140494140
|
0.00017
|
NM_206933.4(USH2A):c.4627+161T>C
|
rs771693146
|
0.00017
|
NM_000016.6(ACADM):c.*44T>C
|
rs374993494
|
0.00016
|
NM_000017.4(ACADS):c.465C>T (p.Ser155=)
|
rs141492002
|
0.00016
|
NM_000017.4(ACADS):c.656C>T (p.Thr219Met)
|
rs148588313
|
0.00016
|
NM_000026.4(ADSL):c.16G>C (p.Asp6His)
|
rs140064577
|
0.00016
|
NM_000108.5(DLD):c.860G>A (p.Gly287Glu)
|
rs202125745
|
0.00016
|
NM_000137.4(FAH):c.150T>C (p.Phe50=)
|
rs186471906
|
0.00016
|
NM_000137.4(FAH):c.741C>T (p.Leu247=)
|
rs145851627
|
0.00016
|
NM_000159.4(GCDH):c.627C>T (p.Thr209=)
|
rs143172809
|
0.00016
|
NM_000170.3(GLDC):c.2024A>C (p.Asn675Thr)
|
rs749513146
|
0.00016
|
NM_000170.3(GLDC):c.700C>G (p.Gln234Glu)
|
rs150698281
|
0.00016
|
NM_000182.5(HADHA):c.325G>A (p.Ala109Thr)
|
rs368388214
|
0.00016
|
NM_000240.4(MAOA):c.1248G>A (p.Met416Ile)
|
rs772161607
|
0.00016
|
NM_000254.3(MTR):c.13C>A (p.Leu5Ile)
|
rs139083778
|
0.00016
|
NM_000277.3(PAH):c.*79G>A
|
rs569495604
|
0.00016
|
NM_000283.4(PDE6B):c.1414C>T (p.Arg472Cys)
|
rs143908642
|
0.00016
|
NM_000283.4(PDE6B):c.170C>T (p.Thr57Met)
|
rs149359860
|
0.00016
|
NM_000341.4(SLC3A1):c.863G>A (p.Arg288His)
|
rs375237049
|
0.00016
|
NM_000360.4(TH):c.-18G>A
|
rs370306636
|
0.00016
|
NM_000360.4(TH):c.585G>A (p.Ser195=)
|
rs376615793
|
0.00016
|
NM_000440.3(PDE6A):c.*704G>A
|
rs777001495
|
0.00016
|
NM_000440.3(PDE6A):c.2125G>A (p.Glu709Lys)
|
rs148637474
|
0.00016
|
NM_000440.3(PDE6A):c.879G>A (p.Pro293=)
|
rs137853899
|
0.00016
|
NM_000481.4(AMT):c.*163G>C
|
rs200568631
|
0.00016
|
NM_000554.6(CRX):c.*2404C>T
|
rs544403161
|
0.00016
|
NM_000709.4(BCKDHA):c.420G>A (p.Thr140=)
|
rs143608852
|
0.00016
|
NM_000883.4(IMPDH1):c.841G>C (p.Glu281Gln)
|
rs145014241
|
0.00016
|
NM_001002755.4(NFU1):c.62+10G>A
|
rs773351968
|
0.00016
|
NM_001031710.3(KLHL7):c.*795G>A
|
rs534737488
|
0.00016
|
NM_001080.3(ALDH5A1):c.*2097C>T
|
rs773800021
|
0.00016
|
NM_001080.3(ALDH5A1):c.*2737G>A
|
rs146569813
|
0.00016
|
NM_001080.3(ALDH5A1):c.1308T>G (p.His436Gln)
|
rs199500997
|
0.00016
|
NM_001081.4(CUBN):c.1604A>G (p.Tyr535Cys)
|
rs139848689
|
0.00016
|
NM_001081.4(CUBN):c.2778T>G (p.Ser926Arg)
|
rs371127860
|
0.00016
|
NM_001081.4(CUBN):c.4740G>A (p.Thr1580=)
|
rs200115233
|
0.00016
|
NM_001081.4(CUBN):c.6260C>G (p.Ser2087Cys)
|
rs376641725
|
0.00016
|
NM_001102564.3(IFT43):c.395A>T (p.Tyr132Phe)
|
rs201692401
|
0.00016
|
NM_001142800.2(EYS):c.3695T>C (p.Ile1232Thr)
|
rs146413074
|
0.00016
|
NM_001142800.2(EYS):c.7507G>A (p.Glu2503Lys)
|
rs768964978
|
0.00016
|
NM_001201543.2(FAM161A):c.*1144T>G
|
rs532671656
|
0.00016
|
NM_001201543.2(FAM161A):c.2011A>G (p.Asn671Asp)
|
rs370603613
|
0.00016
|
NM_001243279.3(ACSF3):c.1334G>A (p.Ser445Asn)
|
rs142092069
|
0.00016
|
NM_001243279.3(ACSF3):c.28C>T (p.Arg10Trp)
|
rs202182978
|
0.00016
|
NM_001243279.3(ACSF3):c.358G>A (p.Gly120Ser)
|
rs200703917
|
0.00016
|
NM_001271.4(CHD2):c.551+5A>C
|
rs376498798
|
0.00016
|
NM_001297.5(CNGB1):c.1654C>T (p.Arg552Cys)
|
rs370932519
|
0.00016
|
NM_001352514.2(HLCS):c.*2069T>C
|
rs540511044
|
0.00016
|
NM_001370348.2(PHF3):c.*6334T>C
|
rs780180886
|
0.00016
|
NM_001394090.1(CFAP92):c.3280+2008C>T
|
rs549991044
|
0.00016
|
NM_001482.3(GATM):c.692C>G (p.Ser231Cys)
|
rs202225656
|
0.00016
|
NM_001609.4(ACADSB):c.1128+2dup
|
rs762666946
|
0.00016
|
NM_001875.5(CPS1):c.*976C>T
|
rs763063376
|
0.00016
|
NM_001876.4(CPT1A):c.337G>A (p.Gly113Ser)
|
rs555444012
|
0.00016
|
NM_001985.3(ETFB):c.577G>A (p.Ala193Thr)
|
rs200186078
|
0.00016
|
NM_002108.4(HAL):c.1793C>T (p.Pro598Leu)
|
rs143935341
|
0.00016
|
NM_003060.4(SLC22A5):c.1043T>C (p.Ile348Thr)
|
rs150544263
|
0.00016
|
NM_003060.4(SLC22A5):c.115T>G (p.Ser39Ala)
|
rs544332057
|
0.00016
|
NM_003060.4(SLC22A5):c.791C>T (p.Thr264Met)
|
rs201262157
|
0.00016
|
NM_003060.4(SLC22A5):c.904A>G (p.Lys302Glu)
|
rs75783492
|
0.00016
|
NM_003124.5(SPR):c.207C>G (p.Asp69Glu)
|
rs779655618
|
0.00016
|
NM_003322.6(TULP1):c.771G>A (p.Thr257=)
|
rs189081258
|
0.00016
|
NM_003982.4(SLC7A7):c.916G>C (p.Gly306Arg)
|
rs144264145
|
0.00016
|
NM_004170.6(SLC1A1):c.*849G>A
|
rs756636073
|
0.00016
|
NM_004577.4(PSPH):c.*12G>A
|
rs376164457
|
0.00016
|
NM_004744.5(LRAT):c.-2+7A>C
|
rs886059161
|
0.00016
|
NM_005050.4(ABCD4):c.565A>G (p.Ser189Gly)
|
rs183607306
|
0.00016
|
NM_005271.5(GLUD1):c.1402+10G>A
|
rs202067232
|
0.00016
|
NM_005518.4(HMGCS2):c.851-14G>A
|
rs188523700
|
0.00016
|
NM_005589.4(ALDH6A1):c.*839T>G
|
rs765576515
|
0.00016
|
NM_006017.3(PROM1):c.1279T>C (p.Leu427=)
|
rs200710798
|
0.00016
|
NM_006269.2(RP1):c.3101A>T (p.His1034Leu)
|
rs148296108
|
0.00016
|
NM_006269.2(RP1):c.5805T>G (p.Phe1935Leu)
|
rs140137224
|
0.00016
|
NM_006343.3(MERTK):c.*11G>A
|
rs375195445
|
0.00016
|
NM_006445.4(PRPF8):c.5538C>T (p.Ala1846=)
|
rs372925838
|
0.00016
|
NM_006445.4(PRPF8):c.6657G>A (p.Thr2219=)
|
rs200741294
|
0.00016
|
NM_006623.4(PHGDH):c.1257G>A (p.Gly419=)
|
rs374303746
|
0.00016
|
NM_006721.4(ADK):c.*349T>C
|
rs896781492
|
0.00016
|
NM_006859.4(LIAS):c.173C>T (p.Thr58Ile)
|
rs141723499
|
0.00016
|
NM_006859.4(LIAS):c.393+4G>A
|
rs368453789
|
0.00016
|
NM_006899.5(IDH3B):c.*177A>G
|
rs367573436
|
0.00016
|
NM_012469.4(PRPF6):c.1164A>G (p.Ala388=)
|
rs201984924
|
0.00016
|
NM_014014.5(SNRNP200):c.390T>C (p.Asp130=)
|
rs138291954
|
0.00016
|
NM_014014.5(SNRNP200):c.5409C>T (p.Ser1803=)
|
rs139137932
|
0.00016
|
NM_014251.3(SLC25A13):c.*729G>A
|
rs373153995
|
0.00016
|
NM_014252.4(SLC25A15):c.*1595G>A
|
rs886050245
|
0.00016
|
NM_014252.4(SLC25A15):c.*1852C>T
|
rs189882750
|
0.00016
|
NM_014270.5(SLC7A9):c.369G>A (p.Thr123=)
|
rs144880180
|
0.00016
|
NM_014714.4(IFT140):c.3562C>T (p.Arg1188Trp)
|
rs575196272
|
0.00016
|
NM_015629.4(PRPF31):c.429C>T (p.Gly143=)
|
rs142604510
|
0.00016
|
NM_016247.4(IMPG2):c.*3152T>C
|
rs921907957
|
0.00016
|
NM_016373.4(WWOX):c.990C>G (p.Asn330Lys)
|
rs117209694
|
0.00016
|
NM_016579.4(CD320):c.35G>T (p.Trp12Leu)
|
rs763898394
|
0.00016
|
NM_016579.4(CD320):c.41C>T (p.Thr14Ile)
|
rs374551944
|
0.00016
|
NM_018706.7(DHTKD1):c.1364G>A (p.Arg455Gln)
|
rs142068634
|
0.00016
|
NM_020686.6(ABAT):c.*1771C>G
|
rs543197540
|
0.00016
|
NM_022367.4(SEMA4A):c.302T>C (p.Ile101Thr)
|
rs149652495
|
0.00016
|
NM_025136.3(OPA3):c.-96A>G
|
rs566870092
|
0.00016
|
NM_033100.4(CDHR1):c.1589C>G (p.Thr530Ser)
|
rs140097244
|
0.00016
|
NM_052845.4(MMAB):c.*554G>A
|
rs562420933
|
0.00016
|
NM_054012.4(ASS1):c.174+4C>A
|
rs368133957
|
0.00016
|
NM_144596.4(TTC8):c.1463C>T (p.Ala488Val)
|
rs199649536
|
0.00016
|
NM_144631.6(ZNF513):c.950G>A (p.Arg317Gln)
|
rs201047611
|
0.00016
|
NM_152419.3(HGSNAT):c.145C>A (p.Leu49Met)
|
rs372961495
|
0.00016
|
NM_152542.5(PPM1K):c.1055A>G (p.Tyr352Cys)
|
rs149003637
|
0.00016
|
NM_174878.3(CLRN1):c.218A>G (p.Gln73Arg)
|
rs201008540
|
0.00016
|
NM_201253.3(CRB1):c.*116A>G
|
rs575882211
|
0.00016
|
NM_201548.5(CERKL):c.1160-10T>G
|
rs771126203
|
0.00016
|
NM_203288.2(RP9):c.509A>G (p.Asp170Gly)
|
rs104894039
|
0.00016
|
NM_205861.3(DHDDS):c.*464T>C
|
rs567665048
|
0.00016
|
NM_206933.4(USH2A):c.4627+596A>G
|
rs1036513961
|
0.00016
|
NM_206933.4(USH2A):c.4627+851A>G
|
rs779885066
|
0.00016
|
NM_206933.4(USH2A):c.8552A>C (p.Asn2851Thr)
|
rs577389392
|
0.00016
|
NM_206933.4(USH2A):c.9604C>G (p.Pro3202Ala)
|
rs113786363
|
0.00016
|
NM_206933.4(USH2A):c.9871G>A (p.Gly3291Ser)
|
rs138543813
|
0.00016
|
NM_000026.4(ADSL):c.247C>T (p.Arg83Cys)
|
rs780425464
|
0.00015
|
NM_000026.4(ADSL):c.357+6C>T
|
rs181628906
|
0.00015
|
NM_000161.3(GCH1):c.*1033C>T
|
rs867220379
|
0.00015
|
NM_000255.4(MMUT):c.1865T>C (p.Met622Thr)
|
rs201536536
|
0.00015
|
NM_000283.4(PDE6B):c.1920+4G>A
|
rs370313003
|
0.00015
|
NM_000440.3(PDE6A):c.2252C>T (p.Thr751Met)
|
rs143080578
|
0.00015
|
NM_000485.3(APRT):c.276G>A (p.Leu92=)
|
rs372253865
|
0.00015
|
NM_000539.3(RHO):c.310G>A (p.Val104Ile)
|
rs144317206
|
0.00015
|
NM_000554.6(CRX):c.*907C>T
|
rs559582292
|
0.00015
|
NM_001024845.3(SLC6A9):c.535T>C (p.Ser179Pro)
|
rs201636712
|
0.00015
|
NM_001029883.3(PCARE):c.*1666C>T
|
rs527244201
|
0.00015
|
NM_001029883.3(PCARE):c.3529C>T (p.Arg1177Trp)
|
rs201354788
|
0.00015
|
NM_001077620.3(PRCD):c.-82T>C
|
rs1011242073
|
0.00015
|
NM_001080.3(ALDH5A1):c.1316C>T (p.Thr439Ile)
|
rs139633130
|
0.00015
|
NM_001080.3(ALDH5A1):c.735C>G (p.Ser245Arg)
|
rs141430899
|
0.00015
|
NM_001081.4(CUBN):c.10076C>T (p.Ser3359Leu)
|
rs140566726
|
0.00015
|
NM_001081.4(CUBN):c.427A>C (p.Asn143His)
|
rs151018922
|
0.00015
|
NM_001142800.2(EYS):c.453T>A (p.Val151=)
|
rs373183802
|
0.00015
|
NM_001201543.2(FAM161A):c.1061G>A (p.Arg354Gln)
|
rs369115510
|
0.00015
|
NM_001297.5(CNGB1):c.1028T>C (p.Met343Thr)
|
rs202174131
|
0.00015
|
NM_001370658.1(BTD):c.-105C>T
|
rs184480128
|
0.00015
|
NM_001698.3(AUH):c.678C>T (p.Arg226=)
|
rs143768042
|
0.00015
|
NM_001918.5(DBT):c.*295G>A
|
rs556913110
|
0.00015
|
NM_001918.5(DBT):c.*918G>T
|
rs555064255
|
0.00015
|
NM_002098.6(GUCA1B):c.-35C>T
|
rs561790374
|
0.00015
|
NM_002108.4(HAL):c.1794G>A (p.Pro598=)
|
rs149461774
|
0.00015
|
NM_002860.4(ALDH18A1):c.148A>G (p.Thr50Ala)
|
rs374047257
|
0.00015
|
NM_002900.3(RBP3):c.3635C>T (p.Thr1212Ile)
|
rs147796755
|
0.00015
|
NM_004183.4(BEST1):c.*45T>C
|
rs201586629
|
0.00015
|
NM_004453.4(ETFDH):c.972+13C>T
|
rs199589412
|
0.00015
|
NM_004937.3(CTNS):c.833T>C (p.Leu278Pro)
|
rs1314998853
|
0.00015
|
NM_005271.5(GLUD1):c.1403-11T>C
|
rs886047374
|
0.00015
|
NM_005518.4(HMGCS2):c.1153T>A (p.Ser385Thr)
|
rs4716
|
0.00015
|
NM_005881.4(BCKDK):c.552G>C (p.Lys184Asn)
|
rs774214869
|
0.00015
|
NM_005957.5(MTHFR):c.1720G>A (p.Val574Ile)
|
rs202153689
|
0.00015
|
NM_006269.2(RP1):c.*269A>G
|
rs1276671291
|
0.00015
|
NM_006445.4(PRPF8):c.5794-11T>C
|
rs187602609
|
0.00015
|
NM_006915.2(RP2):c.-97C>T
|
rs975776959
|
0.00015
|
NM_012213.3(MLYCD):c.1433A>G (p.Glu478Gly)
|
rs200078965
|
0.00015
|
NM_013247.5(HTRA2):c.77G>A (p.Gly26Glu)
|
rs145946172
|
0.00015
|
NM_014251.3(SLC25A13):c.408A>G (p.Leu136=)
|
rs188486690
|
0.00015
|
NM_014252.3(SLC25A15):c.-245C>T
|
rs886050237
|
0.00015
|
NM_014252.4(SLC25A15):c.277C>T (p.Arg93Trp)
|
rs200014560
|
0.00015
|
NM_014714.4(IFT140):c.4205T>C (p.Met1402Thr)
|
rs202129528
|
0.00015
|
NM_015662.3(IFT172):c.3851G>A (p.Arg1284Gln)
|
rs147394910
|
0.00015
|
NM_015662.3(IFT172):c.706C>T (p.Arg236Cys)
|
rs146290725
|
0.00015
|
NM_016247.4(IMPG2):c.2803-14T>G
|
rs376452358
|
0.00015
|
NM_016247.4(IMPG2):c.745C>T (p.Leu249Phe)
|
rs376443291
|
0.00015
|
NM_018368.4(LMBRD1):c.*166A>G
|
rs960902863
|
0.00015
|
NM_018368.4(LMBRD1):c.384T>C (p.Asp128=)
|
rs143642515
|
0.00015
|
NM_020166.5(MCCC1):c.1894C>T (p.Pro632Ser)
|
rs142867987
|
0.00015
|
NM_020686.6(ABAT):c.*283T>C
|
rs142722977
|
0.00015
|
NM_022132.5(MCCC2):c.701G>A (p.Arg234His)
|
rs202100813
|
0.00015
|
NM_022132.5(MCCC2):c.746C>T (p.Ala249Val)
|
rs141676987
|
0.00015
|
NM_025136.4(OPA3):c.*3442A>G
|
rs138449967
|
0.00015
|
NM_144631.6(ZNF513):c.-8C>G
|
rs142187881
|
0.00015
|
NM_177965.4(CFAP418):c.155+8G>A
|
rs377262548
|
0.00015
|
NM_206933.4(USH2A):c.5330G>A (p.Arg1777Gln)
|
rs541275063
|
0.00015
|
NC_000022.11:g.40345958C>T
|
rs558615182
|
0.00014
|
NM_000017.4(ACADS):c.825C>T (p.Ile275=)
|
rs200652158
|
0.00014
|
NM_000018.4(ACADVL):c.1227G>A (p.Thr409=)
|
rs778531268
|
0.00014
|
NM_000019.4(ACAT1):c.858G>A (p.Leu286=)
|
rs143892373
|
0.00014
|
NM_000045.4(ARG1):c.22A>G (p.Ile8Val)
|
rs776185609
|
0.00014
|
NM_000045.4(ARG1):c.271G>A (p.Gly91Arg)
|
rs374676787
|
0.00014
|
NM_000108.5(DLD):c.*739G>A
|
rs181103944
|
0.00014
|
NM_000108.5(DLD):c.74A>C (p.Gln25Pro)
|
rs61749951
|
0.00014
|
NM_000137.2(FAH):c.-67C>A
|
rs886051495
|
0.00014
|
NM_000137.4(FAH):c.-43G>T
|
rs200704926
|
0.00014
|
NM_000156.6(GAMT):c.22C>A (p.Pro8Thr)
|
rs776498025
|
0.00014
|
NM_000159.4(GCDH):c.*340G>A
|
rs190174770
|
0.00014
|
NM_000159.4(GCDH):c.1244-15A>G
|
rs201407990
|
0.00014
|
NM_000170.3(GLDC):c.110G>A (p.Ser37Asn)
|
rs763471932
|
0.00014
|
NM_000170.3(GLDC):c.1974C>A (p.Ala658=)
|
rs534062853
|
0.00014
|
NM_000254.3(MTR):c.1039C>T (p.Pro347Ser)
|
rs140956566
|
0.00014
|
NM_000254.3(MTR):c.1855G>C (p.Val619Leu)
|
rs557853306
|
0.00014
|
NM_000255.4(MMUT):c.189C>A (p.Thr63=)
|
rs777167901
|
0.00014
|
NM_000274.4(OAT):c.517G>A (p.Ala173Thr)
|
rs372152657
|
0.00014
|
NM_000276.4(OCRL):c.428C>T (p.Ser143Phe)
|
rs760751280
|
0.00014
|
NM_000277.3(PAH):c.442-18G>A
|
rs149538764
|
0.00014
|
NM_000282.3(PCCA):c.-60C>T
|
rs778039561
|
0.00014
|
NM_000320.3(QDPR):c.425A>G (p.Asp142Gly)
|
rs138542030
|
0.00014
|
NM_000326.5(RLBP1):c.228G>A (p.Ser76=)
|
rs202116993
|
0.00014
|
NM_000341.4(SLC3A1):c.1474G>A (p.Ala492Thr)
|
rs201989712
|
0.00014
|
NM_000350.3(ABCA4):c.6560A>G (p.Gln2187Arg)
|
rs1339233014
|
0.00014
|
NM_000440.3(PDE6A):c.1954C>T (p.Arg652Cys)
|
rs199748187
|
0.00014
|
NM_000481.4(AMT):c.858C>A (p.Gly286=)
|
rs367726589
|
0.00014
|
NM_000531.6(OTC):c.*175T>C
|
rs752290309
|
0.00014
|
NM_000532.5(PCCB):c.654+3A>C
|
rs199886085
|
0.00014
|
NM_000541.5(SAG):c.453T>G (p.Phe151Leu)
|
rs770558895
|
0.00014
|
NM_000554.6(CRX):c.*746T>C
|
rs886054552
|
0.00014
|
NM_000709.4(BCKDHA):c.1195C>T (p.Arg399Trp)
|
rs760281271
|
0.00014
|
NM_000717.5(CA4):c.40C>T (p.Arg14Trp)
|
rs104894559
|
0.00014
|
NM_001077620.3(PRCD):c.*881G>A
|
rs757028440
|
0.00014
|
NM_001080.3(ALDH5A1):c.1163C>T (p.Ala388Val)
|
rs536355368
|
0.00014
|
NM_001080.3(ALDH5A1):c.1280A>G (p.Asn427Ser)
|
rs149793005
|
0.00014
|
NM_001081.4(CUBN):c.*560C>T
|
rs45565931
|
0.00014
|
NM_001081.4(CUBN):c.-35G>C
|
rs376502722
|
0.00014
|
NM_001081.4(CUBN):c.1358C>A (p.Ser453Tyr)
|
rs368630481
|
0.00014
|
NM_001081.4(CUBN):c.1450A>G (p.Ser484Gly)
|
rs750735519
|
0.00014
|
NM_001081.4(CUBN):c.9035C>T (p.Pro3012Leu)
|
rs143741363
|
0.00014
|
NM_001081.4(CUBN):c.9418G>A (p.Ala3140Thr)
|
rs148491916
|
0.00014
|
NM_001081.4(CUBN):c.9922T>C (p.Trp3308Arg)
|
rs752843169
|
0.00014
|
NM_001142800.2(EYS):c.6436T>C (p.Phe2146Leu)
|
rs545408886
|
0.00014
|
NM_001164665.2(KIAA1549):c.3146T>A (p.Val1049Glu)
|
rs200468254
|
0.00014
|
NM_001201543.2(FAM161A):c.1270G>A (p.Val424Ile)
|
rs377666612
|
0.00014
|
NM_001201543.2(FAM161A):c.1391A>G (p.His464Arg)
|
rs201315315
|
0.00014
|
NM_001201543.2(FAM161A):c.2065G>T (p.Asp689Tyr)
|
rs191862300
|
0.00014
|
NM_001243279.3(ACSF3):c.1613+8T>G
|
rs1358602745
|
0.00014
|
NM_001243279.3(ACSF3):c.80G>A (p.Arg27Lys)
|
rs756279730
|
0.00014
|
NM_001297.5(CNGB1):c.1179C>T (p.Asp393=)
|
rs377042647
|
0.00014
|
NM_001297.5(CNGB1):c.1435C>A (p.Leu479Ile)
|
rs2303783
|
0.00014
|
NM_001352514.2(HLCS):c.*1273T>A
|
rs565500474
|
0.00014
|
NM_001352514.2(HLCS):c.1843G>C (p.Val615Leu)
|
rs376210604
|
0.00014
|
NM_001352514.2(HLCS):c.294A>C (p.Gln98His)
|
rs751729789
|
0.00014
|
NM_001354768.3(NRL):c.*778C>T
|
rs762694845
|
0.00014
|
NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr)
|
rs181396238
|
0.00014
|
NM_001378615.1(CC2D2A):c.3751G>A (p.Gly1251Arg)
|
rs368180778
|
0.00014
|
NM_001394090.1(CFAP92):c.3281-2366T>G
|
rs367762859
|
0.00014
|
NM_001739.2(CA5A):c.615T>A (p.His205Gln)
|
rs139816901
|
0.00014
|
NM_001875.5(CPS1):c.2236C>A (p.Pro746Thr)
|
rs139740322
|
0.00014
|
NM_001918.5(DBT):c.*8275A>G
|
rs189649370
|
0.00014
|
NM_002108.4(HAL):c.1754C>G (p.Ser585Cys)
|
rs201632329
|
0.00014
|
NM_002150.3(HPD):c.331C>T (p.Arg111Trp)
|
rs117839625
|
0.00014
|
NM_002225.5(IVD):c.*1313C>G
|
rs550652153
|
0.00014
|
NM_002225.5(IVD):c.*1839C>G
|
rs186670312
|
0.00014
|
NM_002225.5(IVD):c.879-5G>A
|
rs750569823
|
0.00014
|
NM_002860.4(ALDH18A1):c.1376G>A (p.Arg459Gln)
|
rs771386671
|
0.00014
|
NM_002860.4(ALDH18A1):c.986A>G (p.Asn329Ser)
|
rs141291042
|
0.00014
|
NM_002900.3(RBP3):c.1207G>A (p.Ala403Thr)
|
rs143857049
|
0.00014
|
NM_002900.3(RBP3):c.2899G>A (p.Gly967Ser)
|
rs201500631
|
0.00014
|
NM_003060.4(SLC22A5):c.1440C>T (p.Phe480=)
|
rs150457229
|
0.00014
|
NM_003748.4(ALDH4A1):c.1055C>T (p.Ser352Leu)
|
rs137852937
|
0.00014
|
NM_004279.3(PMPCB):c.661A>G (p.Ile221Val)
|
rs149104855
|
0.00014
|
NM_004453.4(ETFDH):c.1518G>A (p.Glu506=)
|
rs146882697
|
0.00014
|
NM_004483.5(GCSH):c.89C>T (p.Pro30Leu)
|
rs1003539348
|
0.00014
|
NM_004577.4(PSPH):c.422-3A>C
|
rs376149020
|
0.00014
|
NM_004937.3(CTNS):c.332C>T (p.Pro111Leu)
|
rs149689304
|
0.00014
|
NM_005050.4(ABCD4):c.719+6T>C
|
rs755014125
|
0.00014
|
NM_005802.5(TOPORS):c.*371T>C
|
rs970207555
|
0.00014
|
NM_005957.5(MTHFR):c.1162C>T (p.Arg388Cys)
|
rs200138092
|
0.00014
|
NM_005957.5(MTHFR):c.903G>A (p.Leu301=)
|
rs147979890
|
0.00014
|
NM_006269.2(RP1):c.5257T>C (p.Leu1753=)
|
rs199808222
|
0.00014
|
NM_006899.5(IDH3B):c.900C>T (p.Tyr300=)
|
rs201237064
|
0.00014
|
NM_014049.5(ACAD9):c.1552C>T (p.Arg518Cys)
|
rs150283105
|
0.00014
|
NM_014251.3(SLC25A13):c.1275G>A (p.Ser425=)
|
rs376416252
|
0.00014
|
NM_014252.4(SLC25A15):c.*2190T>C
|
rs117823875
|
0.00014
|
NM_014270.5(SLC7A9):c.988G>A (p.Val330Met)
|
rs201618022
|
0.00014
|
NM_014336.5(AIPL1):c.*1534G>A
|
rs780946014
|
0.00014
|
NM_014384.3(ACAD8):c.*705T>G
|
rs534413850
|
0.00014
|
NM_014384.3(ACAD8):c.384G>A (p.Met128Ile)
|
rs374317179
|
0.00014
|
NM_014714.4(IFT140):c.22C>G (p.Gln8Glu)
|
rs145267929
|
0.00014
|
NM_014714.4(IFT140):c.2651G>A (p.Arg884Gln)
|
rs150498538
|
0.00014
|
NM_014748.4(SNX17):c.*772G>A
|
rs149692692
|
0.00014
|
NM_015506.3(MMACHC):c.770C>T (p.Pro257Leu)
|
rs201601241
|
0.00014
|
NM_015662.3(IFT172):c.4209G>C (p.Gln1403His)
|
rs149065251
|
0.00014
|
NM_015662.3(IFT172):c.590C>T (p.Pro197Leu)
|
rs368373262
|
0.00014
|
NM_016335.6(PRODH):c.319A>G (p.Lys107Glu)
|
rs140129512
|
0.00014
|
NM_016373.4(WWOX):c.499C>T (p.Arg167Cys)
|
rs201228765
|
0.00014
|
NM_018418.5(SPATA7):c.245A>G (p.Asp82Gly)
|
rs376502749
|
0.00014
|
NM_020208.4(SLC6A20):c.79A>G (p.Asn27Asp)
|
rs371272274
|
0.00014
|
NM_022132.5(MCCC2):c.114C>G (p.Gly38=)
|
rs750638270
|
0.00014
|
NM_022367.4(SEMA4A):c.-64A>G
|
rs753268297
|
0.00014
|
NM_022367.4(SEMA4A):c.90C>T (p.Thr30=)
|
rs373565051
|
0.00014
|
NM_025136.4(OPA3):c.*1018A>G
|
rs534682712
|
0.00014
|
NM_025136.4(OPA3):c.*5045C>T
|
rs573380409
|
0.00014
|
NM_025136.4(OPA3):c.*649C>T
|
rs886054537
|
0.00014
|
NM_032861.4(SERAC1):c.1483A>C (p.Ile495Leu)
|
rs370591885
|
0.00014
|
NM_032861.4(SERAC1):c.1538C>T (p.Thr513Met)
|
rs143065058
|
0.00014
|
NM_033100.4(CDHR1):c.1187A>G (p.Asn396Ser)
|
rs145353541
|
0.00014
|
NM_052845.4(MMAB):c.444G>A (p.Gly148=)
|
rs117269384
|
0.00014
|
NM_052845.4(MMAB):c.503C>T (p.Thr168Met)
|
rs200690789
|
0.00014
|
NM_052845.4(MMAB):c.678T>C (p.Tyr226=)
|
rs111678627
|
0.00014
|
NM_054012.4(ASS1):c.1165A>G (p.Thr389Ala)
|
rs145288815
|
0.00014
|
NM_054012.4(ASS1):c.351C>T (p.Gly117=)
|
rs2228429
|
0.00014
|
NM_054012.4(ASS1):c.858A>T (p.Ala286=)
|
rs201905628
|
0.00014
|
NM_144631.6(ZNF513):c.984T>A (p.Gly328=)
|
rs369469017
|
0.00014
|
NM_152443.3(RDH12):c.662C>T (p.Thr221Ile)
|
rs769317754
|
0.00014
|
NM_172250.3(MMAA):c.*3222T>C
|
rs886059112
|
0.00014
|
NM_177965.4(CFAP418):c.*1115G>C
|
rs763366360
|
0.00014
|
NM_201253.3(CRB1):c.1192G>A (p.Val398Ile)
|
rs144011428
|
0.00014
|
NM_201548.5(CERKL):c.1556T>C (p.Ile519Thr)
|
rs141723283
|
0.00014
|
NM_205861.3(DHDDS):c.990T>C (p.Thr330=)
|
rs773902080
|
0.00014
|
NM_206933.4(USH2A):c.12790G>A (p.Glu4264Lys)
|
rs200792578
|
0.00014
|
NM_206933.4(USH2A):c.127G>A (p.Val43Met)
|
rs147421006
|
0.00014
|
NM_206933.4(USH2A):c.13477C>T (p.Arg4493Cys)
|
rs144543286
|
0.00014
|
NM_206933.4(USH2A):c.1608C>T (p.Cys536=)
|
rs187380128
|
0.00014
|
NM_206933.4(USH2A):c.1898C>T (p.Ser633Leu)
|
rs373190681
|
0.00014
|
NM_206933.4(USH2A):c.3252G>T (p.Trp1084Cys)
|
rs200289497
|
0.00014
|
NM_206933.4(USH2A):c.3375T>G (p.Ile1125Met)
|
rs143319658
|
0.00014
|
NM_206933.4(USH2A):c.7291C>T (p.Pro2431Ser)
|
rs148136966
|
0.00014
|
NM_206933.4(USH2A):c.9992T>A (p.Met3331Lys)
|
rs141452179
|
0.00014
|
NC_000022.11:g.40345513A>C
|
rs988634184
|
0.00013
|
NM_000016.6(ACADM):c.-17C>G
|
rs367734665
|
0.00013
|
NM_000016.6(ACADM):c.508G>T (p.Ala170Ser)
|
rs763613689
|
0.00013
|
NM_000048.4(ASL):c.1056G>A (p.Thr352=)
|
rs745476328
|
0.00013
|
NM_000071.3(CBS):c.1072G>A (p.Val358Met)
|
rs148589243
|
0.00013
|
NM_000071.3(CBS):c.670C>T (p.Arg224Cys)
|
rs139456571
|
0.00013
|
NM_000108.5(DLD):c.-8G>T
|
rs372155330
|
0.00013
|
NM_000137.4(FAH):c.-40C>G
|
rs371100968
|
0.00013
|
NM_000137.4(FAH):c.583C>G (p.Leu195Val)
|
rs1002962662
|
0.00013
|
NM_000137.4(FAH):c.841C>A (p.Pro281Thr)
|
rs199820704
|
0.00013
|
NM_000156.6(GAMT):c.575C>T (p.Thr192Met)
|
rs141066224
|
0.00013
|
NM_000161.3(GCH1):c.-56G>A
|
rs866010535
|
0.00013
|
NM_000161.3(GCH1):c.453+6G>A
|
rs766668821
|
0.00013
|
NM_000187.4(HGD):c.1176C>T (p.Ala392=)
|
rs368805723
|
0.00013
|
NM_000187.4(HGD):c.567C>G (p.Ser189Arg)
|
rs750428921
|
0.00013
|
NM_000254.3(MTR):c.3217T>C (p.Ser1073Pro)
|
rs111465715
|
0.00013
|
NM_000255.4(MMUT):c.*465C>T
|
rs886061555
|
0.00013
|
NM_000255.4(MMUT):c.1777G>C (p.Glu593Gln)
|
rs148285323
|
0.00013
|
NM_000274.4(OAT):c.-4C>G
|
rs372151002
|
0.00013
|
NM_000274.4(OAT):c.1160-13T>A
|
rs372850085
|
0.00013
|
NM_000274.4(OAT):c.355G>A (p.Val119Ile)
|
rs150939128
|
0.00013
|
NM_000274.4(OAT):c.546G>T (p.Leu182Phe)
|
rs144763058
|
0.00013
|
NM_000274.4(OAT):c.736C>T (p.Leu246=)
|
rs146882296
|
0.00013
|
NM_000277.3(PAH):c.65C>A (p.Thr22Lys)
|
rs199565868
|
0.00013
|
NM_000283.4(PDE6B):c.133G>A (p.Asp45Asn)
|
rs138423108
|
0.00013
|
NM_000320.3(QDPR):c.*329T>G
|
rs886059238
|
0.00013
|
NM_000329.3(RPE65):c.298A>C (p.Ile100Leu)
|
rs142626873
|
0.00013
|
NM_000360.4(TH):c.*9C>T
|
rs762091461
|
0.00013
|
NM_000387.6(SLC25A20):c.535+6C>T
|
rs199770033
|
0.00013
|
NM_000440.3(PDE6A):c.594G>A (p.Val198=)
|
rs398123394
|
0.00013
|
NM_000531.6(OTC):c.83G>A (p.Gly28Glu)
|
rs199858968
|
0.00013
|
NM_000539.3(RHO):c.*1255T>C
|
rs774496991
|
0.00013
|
NM_000554.6(CRX):c.*6G>A
|
rs375770558
|
0.00013
|
NM_000687.4(AHCY):c.918C>T (p.Ile306=)
|
rs146829385
|
0.00013
|
NM_001029883.3(PCARE):c.3527A>G (p.Gln1176Arg)
|
rs182812191
|
0.00013
|
NM_001080.3(ALDH5A1):c.*7T>C
|
rs199767765
|
0.00013
|
NM_001081.4(CUBN):c.4639C>T (p.Arg1547Cys)
|
rs375920680
|
0.00013
|
NM_001081.4(CUBN):c.8680C>G (p.Pro2894Ala)
|
rs377159715
|
0.00013
|
NM_001142800.2(EYS):c.9209T>C (p.Ile3070Thr)
|
rs183589498
|
0.00013
|
NM_001201543.2(FAM161A):c.*757G>A
|
rs560037933
|
0.00013
|
NM_001201543.2(FAM161A):c.494A>G (p.Gln165Arg)
|
rs201088869
|
0.00013
|
NM_001243279.3(ACSF3):c.1398C>T (p.Tyr466=)
|
rs200146632
|
0.00013
|
NM_001352514.2(HLCS):c.1550C>T (p.Thr517Ile)
|
rs575286749
|
0.00013
|
NM_001352514.2(HLCS):c.2407C>T (p.Pro803Ser)
|
rs538159086
|
0.00013
|
NM_001379270.1(CNGA1):c.179G>T (p.Gly60Val)
|
rs201031527
|
0.00013
|
NM_001609.4(ACADSB):c.*1754A>G
|
rs886046791
|
0.00013
|
NM_001609.4(ACADSB):c.*3619T>C
|
rs886046802
|
0.00013
|
NM_001875.5(CPS1):c.121G>T (p.Val41Phe)
|
rs148708735
|
0.00013
|
NM_001902.6(CTH):c.495G>T (p.Lys165Asn)
|
rs375562313
|
0.00013
|
NM_002098.6(GUCA1B):c.150C>T (p.Asp50=)
|
rs142428974
|
0.00013
|
NM_002108.4(HAL):c.1169G>A (p.Arg390His)
|
rs139643676
|
0.00013
|
NM_002108.4(HAL):c.1287+2T>C
|
rs141634423
|
0.00013
|
NM_002225.5(IVD):c.*566A>T
|
rs549510775
|
0.00013
|
NM_002497.4(NEK2):c.725A>C (p.Asp242Ala)
|
rs148642058
|
0.00013
|
NM_002900.3(RBP3):c.1806C>T (p.His602=)
|
rs782049247
|
0.00013
|
NM_002900.3(RBP3):c.3156C>T (p.Asp1052=)
|
rs756128531
|
0.00013
|
NM_002900.3(RBP3):c.579C>T (p.Ile193=)
|
rs140931492
|
0.00013
|
NM_003124.5(SPR):c.654G>A (p.Met218Ile)
|
rs150078285
|
0.00013
|
NM_003322.6(TULP1):c.1152C>T (p.Asn384=)
|
rs371436525
|
0.00013
|
NM_003322.6(TULP1):c.541G>C (p.Val181Leu)
|
rs576738703
|
0.00013
|
NM_003748.4(ALDH4A1):c.*464G>A
|
rs536186688
|
0.00013
|
NM_003748.4(ALDH4A1):c.698A>G (p.Lys233Arg)
|
rs376422570
|
0.00013
|
NM_003982.4(SLC7A7):c.339A>C (p.Gly113=)
|
rs139270936
|
0.00013
|
NM_004172.5(SLC1A3):c.985G>A (p.Ala329Thr)
|
rs200243548
|
0.00013
|
NM_004183.4(BEST1):c.1063C>T (p.Arg355Cys)
|
rs139637557
|
0.00013
|
NM_004453.4(ETFDH):c.*53del
|
rs753793193
|
0.00013
|
NM_005881.4(BCKDK):c.1131G>A (p.Ala377=)
|
rs151090898
|
0.00013
|
NM_006269.2(RP1):c.2005G>A (p.Ala669Thr)
|
rs201725231
|
0.00013
|
NM_006269.2(RP1):c.4299A>G (p.Ala1433=)
|
rs148918111
|
0.00013
|
NM_006623.4(PHGDH):c.-79T>C
|
rs747803505
|
0.00013
|
NM_006623.4(PHGDH):c.572T>A (p.Leu191Gln)
|
rs369944394
|
0.00013
|
NM_006623.4(PHGDH):c.743C>T (p.Ala248Val)
|
rs201782441
|
0.00013
|
NM_012213.3(MLYCD):c.892C>G (p.Leu298Val)
|
rs563907654
|
0.00013
|
NM_012463.4(ATP6V0A2):c.*2833A>T
|
rs117111955
|
0.00013
|
NM_012469.4(PRPF6):c.1566C>T (p.Cys522=)
|
rs367582115
|
0.00013
|
NM_012469.4(PRPF6):c.1944C>T (p.Ala648=)
|
rs151332876
|
0.00013
|
NM_012469.4(PRPF6):c.2779G>A (p.Gly927Arg)
|
rs145731410
|
0.00013
|
NM_014251.3(SLC25A13):c.1945G>C (p.Gly649Arg)
|
rs757317844
|
0.00013
|
NM_014252.4(SLC25A15):c.-41G>A
|
rs375382325
|
0.00013
|
NM_014270.5(SLC7A9):c.1369T>C (p.Tyr457His)
|
rs138086959
|
0.00013
|
NM_014714.4(IFT140):c.3104G>A (p.Arg1035Gln)
|
rs138596995
|
0.00013
|
NM_014714.4(IFT140):c.728A>G (p.Glu243Gly)
|
rs539181813
|
0.00013
|
NM_014748.4(SNX17):c.*601C>T
|
rs575633762
|
0.00013
|
NM_014748.4(SNX17):c.*766G>A
|
rs753288919
|
0.00013
|
NM_015506.3(MMACHC):c.584G>C (p.Gly195Ala)
|
rs754862915
|
0.00013
|
NM_015629.4(PRPF31):c.*197G>C
|
rs886054620
|
0.00013
|
NM_015702.3(MMADHC):c.-60G>A
|
rs886054923
|
0.00013
|
NM_015702.3(MMADHC):c.10-9C>G
|
rs376032730
|
0.00013
|
NM_016247.4(IMPG2):c.*3235C>A
|
rs886057669
|
0.00013
|
NM_016247.4(IMPG2):c.57G>C (p.Leu19=)
|
rs188916371
|
0.00013
|
NM_016579.4(CD320):c.773G>A (p.Arg258His)
|
rs143156732
|
0.00013
|
NM_018368.4(LMBRD1):c.*125A>G
|
rs886061689
|
0.00013
|
NM_018368.4(LMBRD1):c.1168A>G (p.Ile390Val)
|
rs140727621
|
0.00013
|
NM_018418.5(SPATA7):c.-112A>C
|
rs550675797
|
0.00013
|
NM_022132.5(MCCC2):c.384-20A>G
|
rs770917710
|
0.00013
|
NM_032861.4(SERAC1):c.391T>C (p.Cys131Arg)
|
rs147085187
|
0.00013
|
NM_052845.4(MMAB):c.*2053C>T
|
rs545623412
|
0.00013
|
NM_054012.4(ASS1):c.241G>A (p.Ala81Thr)
|
rs141640176
|
0.00013
|
NM_153006.3(NAGS):c.1234C>T (p.Arg412Cys)
|
rs201703838
|
0.00013
|
NM_172250.3(MMAA):c.*942A>G
|
rs886059096
|
0.00013
|
NM_177550.5(SLC13A5):c.4G>A (p.Ala2Thr)
|
rs146396085
|
0.00013
|
NM_177965.4(CFAP418):c.*1675G>T
|
rs886063192
|
0.00013
|
NM_177965.4(CFAP418):c.*383C>T
|
rs189171642
|
0.00013
|
NM_201548.5(CERKL):c.*114A>G
|
rs766876969
|
0.00013
|
NM_203288.2(RP9):c.632C>G (p.Ser211Cys)
|
rs201702563
|
0.00013
|
NM_205861.3(DHDDS):c.*737C>A
|
rs573311409
|
0.00013
|
NM_206933.4(USH2A):c.1903A>G (p.Ile635Val)
|
rs201808654
|
0.00013
|
NM_206933.4(USH2A):c.4697A>G (p.Gln1566Arg)
|
rs376314751
|
0.00013
|
NM_206933.4(USH2A):c.6080A>C (p.Asn2027Thr)
|
rs144112891
|
0.00013
|
NM_206933.4(USH2A):c.6134A>G (p.His2045Arg)
|
rs111033514
|
0.00013
|
NM_206933.4(USH2A):c.7312G>A (p.Val2438Met)
|
rs370988961
|
0.00013
|
NC_000022.11:g.40345530C>T
|
rs753742645
|
0.00012
|
NM_000018.4(ACADVL):c.1873C>G (p.Pro625Ala)
|
rs377044444
|
0.00012
|
NM_000019.4(ACAT1):c.1003A>G (p.Met335Val)
|
rs369440498
|
0.00012
|
NM_000026.4(ADSL):c.-37C>G
|
rs372357778
|
0.00012
|
NM_000071.3(CBS):c.1642C>T (p.Arg548Trp)
|
rs766444814
|
0.00012
|
NM_000108.5(DLD):c.549G>A (p.Thr183=)
|
rs150630885
|
0.00012
|
NM_000116.5(TAFAZZIN):c.562G>A (p.Glu188Lys)
|
rs375663114
|
0.00012
|
NM_000126.4(ETFA):c.931G>T (p.Ala311Ser)
|
rs372591001
|
0.00012
|
NM_000137.4(FAH):c.715A>T (p.Ile239Phe)
|
rs144228661
|
0.00012
|
NM_000137.4(FAH):c.864C>T (p.Cys288=)
|
rs370273424
|
0.00012
|
NM_000161.3(GCH1):c.*695T>A
|
rs996768677
|
0.00012
|
NM_000161.3(GCH1):c.*721A>G
|
rs759090432
|
0.00012
|
NM_000182.5(HADHA):c.1217A>G (p.Lys406Arg)
|
rs552191498
|
0.00012
|
NM_000187.3(HGD):c.-218A>G
|
rs553200191
|
0.00012
|
NM_000191.3(HMGCL):c.419A>G (p.Asn140Ser)
|
rs148032473
|
0.00012
|
NM_000326.5(RLBP1):c.*403T>C
|
rs766420046
|
0.00012
|
NM_000329.3(RPE65):c.441A>G (p.Thr147=)
|
rs185049543
|
0.00012
|
NM_000341.4(SLC3A1):c.417C>T (p.Asn139=)
|
rs150870922
|
0.00012
|
NM_000353.3(TAT):c.-7G>A
|
rs201879651
|
0.00012
|
NM_000360.4(TH):c.91-868C>T
|
rs148235227
|
0.00012
|
NM_000440.3(PDE6A):c.*2616G>A
|
rs777837397
|
0.00012
|
NM_000481.4(AMT):c.961G>A (p.Val321Met)
|
rs149457059
|
0.00012
|
NM_000532.5(PCCB):c.23C>T (p.Ala8Val)
|
rs764602019
|
0.00012
|
NM_000532.5(PCCB):c.250A>G (p.Met84Val)
|
rs201950515
|
0.00012
|
NM_000554.6(CRX):c.*2402G>T
|
rs901623400
|
0.00012
|
NM_000554.6(CRX):c.765C>T (p.Gly255=)
|
rs145913500
|
0.00012
|
NM_001031710.3(KLHL7):c.738G>A (p.Thr246=)
|
rs148401327
|
0.00012
|
NM_001077620.3(PRCD):c.*687G>A
|
rs550804575
|
0.00012
|
NM_001077620.3(PRCD):c.13C>G (p.Leu5Val)
|
rs200954045
|
0.00012
|
NM_001080.3(ALDH5A1):c.*3298A>G
|
rs968683849
|
0.00012
|
NM_001081.4(CUBN):c.1236T>C (p.Thr412=)
|
rs201404467
|
0.00012
|
NM_001081.4(CUBN):c.2738G>C (p.Ser913Thr)
|
rs201589187
|
0.00012
|
NM_001142800.2(EYS):c.455T>C (p.Met152Thr)
|
rs771768413
|
0.00012
|
NM_001142800.2(EYS):c.7441G>A (p.Gly2481Ser)
|
rs774918307
|
0.00012
|
NM_001243279.3(ACSF3):c.1643C>T (p.Ser548Leu)
|
rs139520739
|
0.00012
|
NM_001243279.3(ACSF3):c.42C>T (p.Cys14=)
|
rs756300619
|
0.00012
|
NM_001243279.3(ACSF3):c.545C>T (p.Pro182Leu)
|
rs145470870
|
0.00012
|
NM_001243279.3(ACSF3):c.796A>G (p.Met266Val)
|
rs141607995
|
0.00012
|
NM_001297.5(CNGB1):c.3379G>A (p.Gly1127Ser)
|
rs373477921
|
0.00012
|
NM_001352514.2(HLCS):c.*1827C>A
|
rs768653798
|
0.00012
|
NM_001352514.2(HLCS):c.*2555T>C
|
rs79868396
|
0.00012
|
NM_001352514.2(HLCS):c.2151C>T (p.Asn717=)
|
rs148709879
|
0.00012
|
NM_001352514.2(HLCS):c.2345A>G (p.Tyr782Cys)
|
rs200453837
|
0.00012
|
NM_001354768.3(NRL):c.227C>T (p.Ala76Val)
|
rs149921817
|
0.00012
|
NM_001370658.1(BTD):c.38G>T (p.Cys13Phe)
|
rs141131444
|
0.00012
|
NM_001370658.1(BTD):c.653G>C (p.Gly218Ala)
|
rs144901367
|
0.00012
|
NM_001394090.1(CFAP92):c.3280+2013C>T
|
rs765999383
|
0.00012
|
NM_001875.5(CPS1):c.*1087T>C
|
rs760593059
|
0.00012
|
NM_001918.5(DBT):c.*4377C>G
|
rs886044946
|
0.00012
|
NM_001918.5(DBT):c.*722C>T
|
rs886044960
|
0.00012
|
NM_002454.3(MTRR):c.973C>A (p.Gln325Lys)
|
rs138098668
|
0.00012
|
NM_002900.3(RBP3):c.3613T>A (p.Ser1205Thr)
|
rs146153708
|
0.00012
|
NM_002900.3(RBP3):c.973G>A (p.Ala325Thr)
|
rs368898051
|
0.00012
|
NM_003124.5(SPR):c.486A>G (p.Gln162=)
|
rs139708286
|
0.00012
|
NM_004170.6(SLC1A1):c.*406G>T
|
rs180881078
|
0.00012
|
NM_004170.6(SLC1A1):c.1346T>C (p.Met449Thr)
|
rs200971678
|
0.00012
|
NM_004744.5(LRAT):c.*1390G>A
|
rs769920153
|
0.00012
|
NM_004937.3(CTNS):c.480C>T (p.Phe160=)
|
rs147565118
|
0.00012
|
NM_005518.4(HMGCS2):c.894G>A (p.Met298Ile)
|
rs138086607
|
0.00012
|
NM_006343.3(MERTK):c.2069C>T (p.Thr690Ile)
|
rs139822416
|
0.00012
|
NM_006623.4(PHGDH):c.390C>T (p.Asp130=)
|
rs148078511
|
0.00012
|
NM_006623.4(PHGDH):c.644-12G>A
|
rs370255821
|
0.00012
|
NM_006899.5(IDH3B):c.73G>A (p.Gly25Ser)
|
rs112208578
|
0.00012
|
NM_012213.3(MLYCD):c.787A>G (p.Ser263Gly)
|
rs570550620
|
0.00012
|
NM_012463.4(ATP6V0A2):c.*3159G>A
|
rs539564846
|
0.00012
|
NM_012463.4(ATP6V0A2):c.539T>C (p.Ile180Thr)
|
rs754727464
|
0.00012
|
NM_012469.4(PRPF6):c.2607G>A (p.Lys869=)
|
rs201168471
|
0.00012
|
NM_014249.4(NR2E3):c.1195C>A (p.Pro399Thr)
|
rs199564404
|
0.00012
|
NM_014252.4(SLC25A15):c.*2264C>T
|
rs544170849
|
0.00012
|
NM_014252.4(SLC25A15):c.706A>G (p.Arg236Gly)
|
rs142236568
|
0.00012
|
NM_014270.5(SLC7A9):c.695A>G (p.Tyr232Cys)
|
rs121908487
|
0.00012
|
NM_014362.4(HIBCH):c.794T>C (p.Met265Thr)
|
rs201049927
|
0.00012
|
NM_014384.3(ACAD8):c.607G>A (p.Val203Ile)
|
rs759877257
|
0.00012
|
NM_014714.4(IFT140):c.2551G>A (p.Val851Met)
|
rs754753583
|
0.00012
|
NM_015506.3(MMACHC):c.364C>A (p.His122Asn)
|
rs372918203
|
0.00012
|
NM_015629.4(PRPF31):c.632G>A (p.Arg211Gln)
|
rs201806410
|
0.00012
|
NM_015662.3(IFT172):c.449G>C (p.Gly150Ala)
|
rs368343162
|
0.00012
|
NM_015662.3(IFT172):c.5069-3C>T
|
rs370108416
|
0.00012
|
NM_016247.4(IMPG2):c.*2781C>T
|
rs148335318
|
0.00012
|
NM_020166.5(MCCC1):c.1561G>A (p.Ala521Thr)
|
rs149957640
|
0.00012
|
NM_020686.6(ABAT):c.1269+6A>G
|
rs372790444
|
0.00012
|
NM_022132.5(MCCC2):c.137A>G (p.Tyr46Cys)
|
rs144578800
|
0.00012
|
NM_025114.4(CEP290):c.5998A>G (p.Ile2000Val)
|
rs183071230
|
0.00012
|
NM_031885.5(BBS2):c.1157C>T (p.Thr386Met)
|
rs138314289
|
0.00012
|
NM_052845.4(MMAB):c.*1482C>T
|
rs576738108
|
0.00012
|
NM_052845.4(MMAB):c.584+6A>G
|
rs767719463
|
0.00012
|
NM_144631.6(ZNF513):c.-48G>C
|
rs563171952
|
0.00012
|
NM_152443.3(RDH12):c.300C>T (p.Ser100=)
|
rs746513362
|
0.00012
|
NM_152542.5(PPM1K):c.670A>G (p.Ile224Val)
|
rs146226844
|
0.00012
|
NM_172250.3(MMAA):c.*1425C>T
|
rs529476650
|
0.00012
|
NM_172250.3(MMAA):c.941G>A (p.Arg314His)
|
rs148142853
|
0.00012
|
NM_201253.3(CRB1):c.2681A>G (p.Asn894Ser)
|
rs62636290
|
0.00012
|
NM_201548.5(CERKL):c.1316G>A (p.Arg439Gln)
|
rs553792277
|
0.00012
|
NM_201548.5(CERKL):c.1500T>C (p.Asp500=)
|
rs141656965
|
0.00012
|
NM_205861.3(DHDDS):c.387G>C (p.Leu129Phe)
|
rs372256981
|
0.00012
|
NC_000022.11:g.40345587A>G
|
rs9607708
|
0.00011
|
NC_000022.11:g.40346371G>C
|
rs777987980
|
0.00011
|
NC_000022.11:g.40346412G>C
|
rs973872264
|
0.00011
|
NM_000018.4(ACADVL):c.*8C>T
|
rs370513576
|
0.00011
|
NM_000018.4(ACADVL):c.1220G>C (p.Gly407Ala)
|
rs904631654
|
0.00011
|
NM_000018.4(ACADVL):c.1239A>G (p.Ile413Met)
|
rs143172658
|
0.00011
|
NM_000018.4(ACADVL):c.622+12C>A
|
rs374633807
|
0.00011
|
NM_000019.3(ACAT1):c.*397C>T
|
rs568860814
|
0.00011
|
NM_000048.4(ASL):c.*286T>A
|
rs555884175
|
0.00011
|
NM_000048.4(ASL):c.-31G>A
|
rs766867890
|
0.00011
|
NM_000048.4(ASL):c.1047C>G (p.Val349=)
|
rs187877947
|
0.00011
|
NM_000071.3(CBS):c.221C>T (p.Pro74Leu)
|
rs762862715
|
0.00011
|
NM_000126.4(ETFA):c.-9G>T
|
rs754953251
|
0.00011
|
NM_000156.6(GAMT):c.707G>C (p.Gly236Ala)
|
rs201029006
|
0.00011
|
NM_000170.3(GLDC):c.1926+6T>C
|
rs200007891
|
0.00011
|
NM_000170.3(GLDC):c.2149A>G (p.Ile717Val)
|
rs117460214
|
0.00011
|
NM_000170.3(GLDC):c.2518A>G (p.Met840Val)
|
rs781693346
|
0.00011
|
NM_000187.4(HGD):c.*155A>G
|
rs776810530
|
0.00011
|
NM_000187.4(HGD):c.141G>A (p.Ser47=)
|
rs541268108
|
0.00011
|
NM_000187.4(HGD):c.752G>A (p.Gly251Asp)
|
rs781011621
|
0.00011
|
NM_000191.3(HMGCL):c.340G>A (p.Glu114Lys)
|
rs200955062
|
0.00011
|
NM_000191.3(HMGCL):c.56G>C (p.Arg19Pro)
|
rs377359610
|
0.00011
|
NM_000254.3(MTR):c.1594A>G (p.Asn532Asp)
|
rs140183705
|
0.00011
|
NM_000255.4(MMUT):c.2026G>A (p.Ala676Thr)
|
rs147715336
|
0.00011
|
NM_000274.4(OAT):c.*561G>A
|
rs375454907
|
0.00011
|
NM_000274.4(OAT):c.478G>A (p.Val160Met)
|
rs148433929
|
0.00011
|
NM_000281.4(PCBD1):c.205G>A (p.Val69Met)
|
rs200188190
|
0.00011
|
NM_000283.4(PDE6B):c.2293G>C (p.Ala765Pro)
|
rs199521106
|
0.00011
|
NM_000326.5(RLBP1):c.-233G>A
|
rs886051504
|
0.00011
|
NM_000329.3(RPE65):c.1194C>T (p.Asp398=)
|
rs139640666
|
0.00011
|
NM_000341.4(SLC3A1):c.1973G>A (p.Arg658His)
|
rs370262167
|
0.00011
|
NM_000360.4(TH):c.1383G>A (p.Pro461=)
|
rs552808212
|
0.00011
|
NM_000372.5(TYR):c.1161T>C (p.Leu387=)
|
rs141967840
|
0.00011
|
NM_000440.3(PDE6A):c.1728+13C>T
|
rs144868706
|
0.00011
|
NM_000440.3(PDE6A):c.299G>A (p.Arg100Gln)
|
rs199738915
|
0.00011
|
NM_000481.4(AMT):c.952C>T (p.Arg318Trp)
|
rs777583902
|
0.00011
|
NM_000531.6(OTC):c.140A>C (p.Asn47Thr)
|
rs67939655
|
0.00011
|
NM_000709.4(BCKDHA):c.448A>G (p.Asn150Asp)
|
rs140612545
|
0.00011
|
NM_001024845.3(SLC6A9):c.461A>G (p.His154Arg)
|
rs201812410
|
0.00011
|
NM_001029883.3(PCARE):c.*1686C>A
|
rs770762342
|
0.00011
|
NM_001029883.3(PCARE):c.*3036C>T
|
rs541824167
|
0.00011
|
NM_001029883.3(PCARE):c.2951G>A (p.Arg984Gln)
|
rs367888126
|
0.00011
|
NM_001029883.3(PCARE):c.3029G>A (p.Arg1010Gln)
|
rs201772623
|
0.00011
|
NM_001029883.3(PCARE):c.645G>A (p.Leu215=)
|
rs374663422
|
0.00011
|
NM_001029883.3(PCARE):c.958C>T (p.Arg320Cys)
|
rs374283240
|
0.00011
|
NM_001080.3(ALDH5A1):c.*2109A>G
|
rs560935505
|
0.00011
|
NM_001080.3(ALDH5A1):c.305T>G (p.Val102Gly)
|
rs1299289161
|
0.00011
|
NM_001081.4(CUBN):c.10729G>A (p.Ala3577Thr)
|
rs139051724
|
0.00011
|
NM_001081.4(CUBN):c.1926C>T (p.Asp642=)
|
rs201938886
|
0.00011
|
NM_001081.4(CUBN):c.6278G>C (p.Gly2093Ala)
|
rs748823977
|
0.00011
|
NM_001081.4(CUBN):c.6661G>A (p.Val2221Ile)
|
rs143291127
|
0.00011
|
NM_001081.4(CUBN):c.8021G>A (p.Arg2674His)
|
rs184746130
|
0.00011
|
NM_001081.4(CUBN):c.9267C>T (p.Thr3089=)
|
rs200124646
|
0.00011
|
NM_001142800.2(EYS):c.1349A>C (p.Asn450Thr)
|
rs138255012
|
0.00011
|
NM_001142800.2(EYS):c.1382G>A (p.Cys461Tyr)
|
rs76754818
|
0.00011
|
NM_001142800.2(EYS):c.3832G>T (p.Ala1278Ser)
|
rs775270768
|
0.00011
|
NM_001142800.2(EYS):c.3858C>T (p.Asp1286=)
|
rs374941270
|
0.00011
|
NM_001142800.2(EYS):c.4565A>G (p.Asn1522Ser)
|
rs539577250
|
0.00011
|
NM_001142800.2(EYS):c.5053T>G (p.Ser1685Ala)
|
rs759642068
|
0.00011
|
NM_001142800.2(EYS):c.6188G>T (p.Cys2063Phe)
|
rs138123230
|
0.00011
|
NM_001201543.2(FAM161A):c.*755G>A
|
rs933044250
|
0.00011
|
NM_001243279.3(ACSF3):c.145C>T (p.Arg49Cys)
|
rs141518662
|
0.00011
|
NM_001243279.3(ACSF3):c.278T>A (p.Leu93His)
|
rs143605434
|
0.00011
|
NM_001243279.3(ACSF3):c.561C>T (p.Val187=)
|
rs113731967
|
0.00011
|
NM_001243279.3(ACSF3):c.625C>G (p.Pro209Ala)
|
rs201953109
|
0.00011
|
NM_001271.4(CHD2):c.1297A>G (p.Ile433Val)
|
rs368327967
|
0.00011
|
NM_001297.5(CNGB1):c.*1148C>T
|
rs996430580
|
0.00011
|
NM_001297.5(CNGB1):c.-68G>A
|
rs892657374
|
0.00011
|
NM_001297.5(CNGB1):c.109G>A (p.Val37Met)
|
rs552372867
|
0.00011
|
NM_001352514.2(HLCS):c.2416G>A (p.Val806Ile)
|
rs368124997
|
0.00011
|
NM_001352514.2(HLCS):c.951C>T (p.Ser317=)
|
rs185480832
|
0.00011
|
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser)
|
rs138818907
|
0.00011
|
NM_001482.3(GATM):c.*799T>C
|
rs903173589
|
0.00011
|
NM_001609.4(ACADSB):c.960A>T (p.Ile320=)
|
rs147531541
|
0.00011
|
NM_001698.3(AUH):c.926A>C (p.Glu309Ala)
|
rs749713024
|
0.00011
|
NM_001739.2(CA5A):c.555G>A (p.Lys185=)
|
rs147623570
|
0.00011
|
NM_001876.4(CPT1A):c.2235G>A (p.Thr745=)
|
rs202208941
|
0.00011
|
NM_001902.6(CTH):c.*334T>A
|
rs886046513
|
0.00011
|
NM_001902.6(CTH):c.816C>T (p.Asn272=)
|
rs148057648
|
0.00011
|
NM_001918.5(DBT):c.*2088A>T
|
rs771850946
|
0.00011
|
NM_001985.3(ETFB):c.40A>C (p.Ile14Leu)
|
rs148261223
|
0.00011
|
NM_002108.4(HAL):c.309-2A>G
|
rs140799551
|
0.00011
|
NM_002108.4(HAL):c.94G>T (p.Val32Leu)
|
rs150051467
|
0.00011
|
NM_002225.5(IVD):c.*2001G>A
|
rs185013442
|
0.00011
|
NM_002225.5(IVD):c.961T>C (p.Leu321=)
|
rs146011049
|
0.00011
|
NM_002454.3(MTRR):c.542A>G (p.Lys181Arg)
|
rs996966324
|
0.00011
|
NM_002860.4(ALDH18A1):c.1946A>G (p.Lys649Arg)
|
rs145197911
|
0.00011
|
NM_003060.4(SLC22A5):c.952-14T>C
|
rs373018486
|
0.00011
|
NM_003124.5(SPR):c.115C>T (p.Leu39Phe)
|
rs777872233
|
0.00011
|
NM_003322.6(TULP1):c.1496-6C>A
|
rs281865171
|
0.00011
|
NM_003748.4(ALDH4A1):c.557T>C (p.Ile186Thr)
|
rs375023861
|
0.00011
|
NM_003982.4(SLC7A7):c.475C>T (p.Arg159Cys)
|
rs11568437
|
0.00011
|
NM_003982.4(SLC7A7):c.549A>C (p.Val183=)
|
rs146945921
|
0.00011
|
NM_004170.6(SLC1A1):c.*1063A>G
|
rs886063974
|
0.00011
|
NM_004172.5(SLC1A3):c.*843C>T
|
rs111315626
|
0.00011
|
NM_004453.3(ETFDH):c.-315G>A
|
rs886059192
|
0.00011
|
NM_004453.4(ETFDH):c.1277A>G (p.Lys426Arg)
|
rs200611086
|
0.00011
|
NM_004577.4(PSPH):c.*341G>A
|
rs886062387
|
0.00011
|
NM_004698.4(PRPF3):c.1851G>A (p.Glu617=)
|
rs782390597
|
0.00011
|
NM_004744.5(LRAT):c.*2322C>T
|
rs1046783706
|
0.00011
|
NM_004744.5(LRAT):c.*3163C>T
|
rs768550356
|
0.00011
|
NM_004937.3(CTNS):c.*2584C>T
|
rs548531950
|
0.00011
|
NM_004937.3(CTNS):c.694C>T (p.Arg232Cys)
|
rs138823792
|
0.00011
|
NM_005148.4(UNC119):c.-34G>T
|
rs550443043
|
0.00011
|
NM_005327.7(HADH):c.*142G>A
|
rs560215584
|
0.00011
|
NM_005518.4(HMGCS2):c.358C>A (p.Pro120Thr)
|
rs758033248
|
0.00011
|
NM_005518.4(HMGCS2):c.8G>A (p.Arg3His)
|
rs72695184
|
0.00011
|
NM_005629.4(SLC6A8):c.92C>T (p.Pro31Leu)
|
rs868950793
|
0.00011
|
NM_005881.4(BCKDK):c.692T>C (p.Ile231Thr)
|
rs200689545
|
0.00011
|
NM_005957.5(MTHFR):c.400C>T (p.Arg134Cys)
|
rs45550133
|
0.00011
|
NM_006017.3(PROM1):c.556C>T (p.Arg186Trp)
|
rs369512467
|
0.00011
|
NM_006017.3(PROM1):c.731G>A (p.Arg244Gln)
|
rs369815021
|
0.00011
|
NM_006269.2(RP1):c.4783C>T (p.Arg1595Trp)
|
rs555883522
|
0.00011
|
NM_006623.4(PHGDH):c.1346A>G (p.Asn449Ser)
|
rs141662984
|
0.00011
|
NM_006623.4(PHGDH):c.689G>A (p.Arg230His)
|
rs777155018
|
0.00011
|
NM_012213.3(MLYCD):c.1335C>T (p.Thr445=)
|
rs373675093
|
0.00011
|
NM_012213.3(MLYCD):c.741G>T (p.Gly247=)
|
rs376948469
|
0.00011
|
NM_012463.4(ATP6V0A2):c.*3166C>T
|
rs777687879
|
0.00011
|
NM_012463.4(ATP6V0A2):c.2505C>G (p.Thr835=)
|
rs535703391
|
0.00011
|
NM_014014.5(SNRNP200):c.4056G>A (p.Thr1352=)
|
rs758645617
|
0.00011
|
NM_014014.5(SNRNP200):c.423T>C (p.Ala141=)
|
rs140702204
|
0.00011
|
NM_014049.5(ACAD9):c.442A>G (p.Ile148Val)
|
rs202119704
|
0.00011
|
NM_014249.4(NR2E3):c.170A>G (p.Lys57Arg)
|
rs563014885
|
0.00011
|
NM_014249.4(NR2E3):c.223G>A (p.Val75Ile)
|
rs750284532
|
0.00011
|
NM_014251.3(SLC25A13):c.*881T>G
|
rs769090840
|
0.00011
|
NM_014251.3(SLC25A13):c.934-3C>T
|
rs767051127
|
0.00011
|
NM_014252.4(SLC25A15):c.216C>T (p.Ile72=)
|
rs572717478
|
0.00011
|
NM_014270.5(SLC7A9):c.1338C>T (p.Ser446=)
|
rs199552160
|
0.00011
|
NM_014270.5(SLC7A9):c.176C>T (p.Thr59Met)
|
rs146154087
|
0.00011
|
NM_014270.5(SLC7A9):c.324C>T (p.Pro108=)
|
rs375773222
|
0.00011
|
NM_014384.3(ACAD8):c.887G>A (p.Arg296Gln)
|
rs775062752
|
0.00011
|
NM_014714.4(IFT140):c.1364C>T (p.Ala455Val)
|
rs201949058
|
0.00011
|
NM_014714.4(IFT140):c.1861C>T (p.Arg621Trp)
|
rs146480546
|
0.00011
|
NM_014714.4(IFT140):c.3383G>A (p.Arg1128His)
|
rs147661907
|
0.00011
|
NM_014714.4(IFT140):c.3668G>C (p.Arg1223Thr)
|
rs751861503
|
0.00011
|
NM_015629.4(PRPF31):c.510C>T (p.Thr170=)
|
rs145699524
|
0.00011
|
NM_015662.3(IFT172):c.146G>A (p.Arg49Gln)
|
rs151097967
|
0.00011
|
NM_015662.3(IFT172):c.1991A>G (p.Asn664Ser)
|
rs199631887
|
0.00011
|
NM_015662.3(IFT172):c.2159G>A (p.Arg720His)
|
rs202089120
|
0.00011
|
NM_015662.3(IFT172):c.2953G>A (p.Gly985Ser)
|
rs369780709
|
0.00011
|
NM_015662.3(IFT172):c.4564G>A (p.Glu1522Lys)
|
rs746340772
|
0.00011
|
NM_015662.3(IFT172):c.4996G>A (p.Glu1666Lys)
|
rs373098915
|
0.00011
|
NM_016247.4(IMPG2):c.*134C>T
|
rs376291735
|
0.00011
|
NM_016247.4(IMPG2):c.-44A>G
|
rs781694232
|
0.00011
|
NM_016373.4(WWOX):c.591C>G (p.Phe197Leu)
|
rs200847456
|
0.00011
|
NM_018418.5(SPATA7):c.207G>A (p.Ser69=)
|
rs142913613
|
0.00011
|
NM_018706.7(DHTKD1):c.2266A>T (p.Asn756Tyr)
|
rs199643928
|
0.00011
|
NM_018706.7(DHTKD1):c.307G>T (p.Ala103Ser)
|
rs35442324
|
0.00011
|
NM_020166.5(MCCC1):c.535G>A (p.Glu179Lys)
|
rs201758122
|
0.00011
|
NM_020686.6(ABAT):c.*2642T>G
|
rs538092815
|
0.00011
|
NM_020686.6(ABAT):c.*2749T>C
|
rs542532328
|
0.00011
|
NM_020686.6(ABAT):c.*2783G>A
|
rs572474401
|
0.00011
|
NM_022132.5(MCCC2):c.*941A>G
|
rs537387461
|
0.00011
|
NM_022132.5(MCCC2):c.1282G>A (p.Ala428Thr)
|
rs371374378
|
0.00011
|
NM_022132.5(MCCC2):c.1545G>C (p.Glu515Asp)
|
rs140220101
|
0.00011
|
NM_022132.5(MCCC2):c.58C>T (p.Pro20Ser)
|
rs371336335
|
0.00011
|
NM_031885.5(BBS2):c.1516C>T (p.Arg506Trp)
|
rs560253338
|
0.00011
|
NM_033100.4(CDHR1):c.*390C>T
|
rs139848391
|
0.00011
|
NM_033100.4(CDHR1):c.640-14C>T
|
rs376451005
|
0.00011
|
NM_052845.4(MMAB):c.*1689C>T
|
rs886093880
|
0.00011
|
NM_052845.4(MMAB):c.*3074C>T
|
rs186602321
|
0.00011
|
NM_058179.4(PSAT1):c.916C>T (p.Arg306Cys)
|
rs113824905
|
0.00011
|
NM_177965.4(CFAP418):c.*2549C>A
|
rs745781812
|
0.00011
|
NM_201253.3(CRB1):c.2488A>T (p.Ile830Phe)
|
rs779451259
|
0.00011
|
NM_201253.3(CRB1):c.4030A>G (p.Ile1344Val)
|
rs111761880
|
0.00011
|
NM_201253.3(CRB1):c.679G>A (p.Glu227Lys)
|
rs190037839
|
0.00011
|
NM_201548.5(CERKL):c.540A>G (p.Lys180=)
|
rs149505471
|
0.00011
|
NM_205861.3(DHDDS):c.*1497C>T
|
rs766309543
|
0.00011
|
NM_205861.3(DHDDS):c.565G>A (p.Asp189Asn)
|
rs748833924
|
0.00011
|
NM_206933.4(USH2A):c.14516C>T (p.Thr4839Met)
|
rs139065588
|
0.00011
|
NM_206933.4(USH2A):c.188G>A (p.Arg63Gln)
|
rs369806765
|
0.00011
|
NM_206933.4(USH2A):c.3443C>T (p.Pro1148Leu)
|
rs141339026
|
0.00011
|
NM_206933.4(USH2A):c.8342C>T (p.Thr2781Ile)
|
rs143240767
|
0.00011
|
NM_000016.6(ACADM):c.210T>G (p.Thr70=)
|
rs778891510
|
0.00010
|
NM_000018.4(ACADVL):c.1269+25G>A
|
rs373157378
|
0.00010
|
NM_000018.4(ACADVL):c.62+9G>A
|
rs369512281
|
0.00010
|
NM_000019.4(ACAT1):c.772C>T (p.Arg258Cys)
|
rs753816946
|
0.00010
|
NM_000045.4(ARG1):c.482G>C (p.Gly161Ala)
|
rs201484132
|
0.00010
|
NM_000071.3(CBS):c.1146-12C>T
|
rs199550738
|
0.00010
|
NM_000071.3(CBS):c.1223+5G>A
|
rs372609349
|
0.00010
|
NM_000071.3(CBS):c.770C>T (p.Thr257Met)
|
rs758236584
|
0.00010
|
NM_000071.3(CBS):c.894G>A (p.Gln298=)
|
rs370514077
|
0.00010
|
NM_000126.4(ETFA):c.882+5T>C
|
rs377259058
|
0.00010
|
NM_000137.4(FAH):c.1193G>A (p.Gly398Glu)
|
rs141946827
|
0.00010
|
NM_000137.4(FAH):c.412G>A (p.Gly138Arg)
|
rs143243347
|
0.00010
|
NM_000137.4(FAH):c.648C>A (p.Ile216=)
|
rs147016995
|
0.00010
|
NM_000159.4(GCDH):c.-4G>C
|
rs371464666
|
0.00010
|
NM_000159.4(GCDH):c.510G>C (p.Lys170Asn)
|
rs200785120
|
0.00010
|
NM_000161.3(GCH1):c.586G>T (p.Ala196Ser)
|
rs104894436
|
0.00010
|
NM_000170.3(GLDC):c.2212T>A (p.Cys738Ser)
|
rs375850752
|
0.00010
|
NM_000170.3(GLDC):c.2230G>A (p.Gly744Arg)
|
rs370061961
|
0.00010
|
NM_000182.5(HADHA):c.*239C>T
|
rs1001518961
|
0.00010
|
NM_000182.5(HADHA):c.810G>A (p.Ala270=)
|
rs376632479
|
0.00010
|
NM_000240.4(MAOA):c.805G>A (p.Val269Ile)
|
rs150176511
|
0.00010
|
NM_000254.3(MTR):c.68A>G (p.Asn23Ser)
|
rs760845484
|
0.00010
|
NM_000255.4(MMUT):c.2022C>T (p.Leu674=)
|
rs772652266
|
0.00010
|
NM_000274.4(OAT):c.1291A>G (p.Ile431Val)
|
rs138709143
|
0.00010
|
NM_000277.3(PAH):c.280A>G (p.Ile94Val)
|
rs528078207
|
0.00010
|
NM_000277.3(PAH):c.509+21G>T
|
rs191700258
|
0.00010
|
NM_000282.4(PCCA):c.1193G>C (p.Cys398Ser)
|
rs149293297
|
0.00010
|
NM_000282.4(PCCA):c.1519G>A (p.Val507Met)
|
rs146061036
|
0.00010
|
NM_000282.4(PCCA):c.2039C>T (p.Ala680Val)
|
rs376383373
|
0.00010
|
NM_000283.4(PDE6B):c.*309T>A
|
rs559243245
|
0.00010
|
NM_000283.4(PDE6B):c.*504A>G
|
rs886059550
|
0.00010
|
NM_000283.4(PDE6B):c.2352+14G>A
|
rs752968664
|
0.00010
|
NM_000320.3(QDPR):c.*31C>T
|
rs377243912
|
0.00010
|
NM_000320.3(QDPR):c.271G>T (p.Ala91Ser)
|
rs147257284
|
0.00010
|
NM_000320.3(QDPR):c.29C>T (p.Ala10Val)
|
rs371735382
|
0.00010
|
NM_000322.5(PRPH2):c.*1079G>A
|
rs572613522
|
0.00010
|
NM_000329.3(RPE65):c.859-11C>T
|
rs369772824
|
0.00010
|
NM_000341.4(SLC3A1):c.572A>G (p.Glu191Gly)
|
rs534054965
|
0.00010
|
NM_000360.4(TH):c.126C>A (p.Ile42=)
|
rs755664117
|
0.00010
|
NM_000360.4(TH):c.127G>A (p.Glu43Lys)
|
rs772029518
|
0.00010
|
NM_000360.4(TH):c.1389G>A (p.Thr463=)
|
rs370029424
|
0.00010
|
NM_000360.4(TH):c.452T>C (p.Val151Ala)
|
rs147569564
|
0.00010
|
NM_000360.4(TH):c.576G>A (p.Pro192=)
|
rs201809787
|
0.00010
|
NM_000440.3(PDE6A):c.*1762A>G
|
rs868404248
|
0.00010
|
NM_000440.3(PDE6A):c.103G>A (p.Asp35Asn)
|
rs374847529
|
0.00010
|
NM_000440.3(PDE6A):c.2037G>A (p.Thr679=)
|
rs140267699
|
0.00010
|
NM_000440.3(PDE6A):c.2526G>A (p.Pro842=)
|
rs376909494
|
0.00010
|
NM_000481.4(AMT):c.1062C>A (p.Pro354=)
|
rs377227163
|
0.00010
|
NM_000481.4(AMT):c.194A>G (p.His65Arg)
|
rs376248724
|
0.00010
|
NM_000481.4(AMT):c.701C>T (p.Ser234Leu)
|
rs150998074
|
0.00010
|
NM_000531.6(OTC):c.127C>A (p.Leu43Ile)
|
rs72554309
|
0.00010
|
NM_000532.5(PCCB):c.1154A>G (p.Asn385Ser)
|
rs151078515
|
0.00010
|
NM_000539.3(RHO):c.361+10G>A
|
rs372128112
|
0.00010
|
NM_000539.3(RHO):c.744G>A (p.Lys248=)
|
rs141185480
|
0.00010
|
NM_000554.6(CRX):c.*809C>G
|
rs574128797
|
0.00010
|
NM_000687.4(AHCY):c.*181C>T
|
rs759056638
|
0.00010
|
NM_000709.4(BCKDHA):c.159G>C (p.Gln53His)
|
rs775471043
|
0.00010
|
NM_000883.4(IMPDH1):c.675T>C (p.Ser225=)
|
rs373353058
|
0.00010
|
NM_001002755.2(NFU1):c.-134A>G
|
rs768859205
|
0.00010
|
NM_001010898.4(SLC6A17):c.1105G>A (p.Glu369Lys)
|
rs149884117
|
0.00010
|
NM_001012720.2(RGR):c.666C>T (p.Leu222=)
|
rs575867273
|
0.00010
|
NM_001017989.3(OPA3):c.415C>T (p.Gln139Ter)
|
rs762180740
|
0.00010
|
NM_001024845.3(SLC6A9):c.31-6217G>A
|
rs200633191
|
0.00010
|
NM_001029883.3(PCARE):c.*1865G>A
|
rs886055913
|
0.00010
|
NM_001029883.3(PCARE):c.*204G>T
|
rs968642049
|
0.00010
|
NM_001029883.3(PCARE):c.1968G>T (p.Arg656Ser)
|
rs201980758
|
0.00010
|
NM_001029883.3(PCARE):c.3194C>G (p.Pro1065Arg)
|
rs201528802
|
0.00010
|
NM_001077620.3(PRCD):c.*260C>T
|
rs773379904
|
0.00010
|
NM_001080.3(ALDH5A1):c.*2861G>A
|
rs886061280
|
0.00010
|
NM_001080.3(ALDH5A1):c.862A>G (p.Thr288Ala)
|
rs373320785
|
0.00010
|
NM_001081.4(CUBN):c.*786T>C
|
rs886046853
|
0.00010
|
NM_001081.4(CUBN):c.10641G>A (p.Arg3547=)
|
rs145909413
|
0.00010
|
NM_001081.4(CUBN):c.5323C>T (p.Arg1775Trp)
|
rs1276708
|
0.00010
|
NM_001102564.3(IFT43):c.92C>T (p.Ala31Val)
|
rs147933112
|
0.00010
|
NM_001142800.2(EYS):c.-68C>T
|
rs530118054
|
0.00010
|
NM_001142800.2(EYS):c.2260-7C>T
|
rs532797776
|
0.00010
|
NM_001142800.2(EYS):c.7744G>A (p.Val2582Ile)
|
rs779269543
|
0.00010
|
NM_001201543.2(FAM161A):c.*1223A>G
|
rs886056215
|
0.00010
|
NM_001201543.2(FAM161A):c.1085G>T (p.Arg362Leu)
|
rs200813667
|
0.00010
|
NM_001201543.2(FAM161A):c.1602G>A (p.Lys534=)
|
rs367777806
|
0.00010
|
NM_001201543.2(FAM161A):c.1851+4G>A
|
rs375048963
|
0.00010
|
NM_001243279.3(ACSF3):c.1127-5T>C
|
rs200245960
|
0.00010
|
NM_001243279.3(ACSF3):c.1369G>A (p.Asp457Asn)
|
rs535695991
|
0.00010
|
NM_001243279.3(ACSF3):c.527C>A (p.Thr176Asn)
|
rs368696141
|
0.00010
|
NM_001258392.3(CLPB):c.748C>G (p.Arg250Gly)
|
rs146762466
|
0.00010
|
NM_001352514.2(HLCS):c.*1594A>G
|
rs776064678
|
0.00010
|
NM_001367823.1(ARHGEF18):c.1769T>G (p.Leu590Arg)
|
rs188811081
|
0.00010
|
NM_001370658.1(BTD):c.382C>T (p.Arg128Cys)
|
rs137877018
|
0.00010
|
NM_001482.3(GATM):c.-1G>A
|
rs778453861
|
0.00010
|
NM_001609.4(ACADSB):c.*2085C>T
|
rs766980366
|
0.00010
|
NM_001609.4(ACADSB):c.725C>T (p.Pro242Leu)
|
rs143736049
|
0.00010
|
NM_001698.3(AUH):c.*218_*219del
|
rs1057515675
|
0.00010
|
NM_001698.3(AUH):c.679G>A (p.Ala227Thr)
|
rs141700491
|
0.00010
|
NM_001875.5(CPS1):c.186C>T (p.Gly62=)
|
rs529836556
|
0.00010
|
NM_001875.5(CPS1):c.2696T>C (p.Met899Thr)
|
rs201340295
|
0.00010
|
NM_001875.5(CPS1):c.3796T>C (p.Phe1266Leu)
|
rs373841124
|
0.00010
|
NM_001876.4(CPT1A):c.1340G>A (p.Arg447Gln)
|
rs757593086
|
0.00010
|
NM_001918.5(DBT):c.*2851C>T
|
rs1023974357
|
0.00010
|
NM_002098.6(GUCA1B):c.*502C>T
|
rs886061394
|
0.00010
|
NM_002098.6(GUCA1B):c.*688G>A
|
rs1328775376
|
0.00010
|
NM_002150.3(HPD):c.941T>C (p.Ile314Thr)
|
rs376100037
|
0.00010
|
NM_002225.5(IVD):c.707C>T (p.Thr236Ile)
|
rs146861563
|
0.00010
|
NM_002860.4(ALDH18A1):c.589G>C (p.Glu197Gln)
|
rs201691969
|
0.00010
|
NM_002900.3(RBP3):c.*65C>T
|
rs183587343
|
0.00010
|
NM_002900.3(RBP3):c.1603C>T (p.Arg535Cys)
|
rs143632019
|
0.00010
|
NM_002900.3(RBP3):c.2497C>T (p.Arg833Cys)
|
rs142945423
|
0.00010
|
NM_003038.5(SLC1A4):c.1520C>A (p.Ser507Ter)
|
rs200617042
|
0.00010
|
NM_003060.4(SLC22A5):c.*1214G>A
|
rs529124788
|
0.00010
|
NM_003748.3(ALDH4A1):c.-39G>T
|
rs112566606
|
0.00010
|
NM_003748.4(ALDH4A1):c.739C>T (p.Arg247Cys)
|
rs748025331
|
0.00010
|
NM_003748.4(ALDH4A1):c.740G>T (p.Arg247Leu)
|
rs558761793
|
0.00010
|
NM_003982.4(SLC7A7):c.161G>T (p.Gly54Val)
|
rs121908677
|
0.00010
|
NM_004170.6(SLC1A1):c.*1597T>C
|
rs886063979
|
0.00010
|
NM_004170.6(SLC1A1):c.*719T>A
|
rs886063972
|
0.00010
|
NM_004170.6(SLC1A1):c.578C>T (p.Ser193Phe)
|
rs368929720
|
0.00010
|
NM_004453.4(ETFDH):c.1603G>T (p.Ala535Ser)
|
rs748346465
|
0.00010
|
NM_004453.4(ETFDH):c.1652C>T (p.Ser551Leu)
|
rs772351035
|
0.00010
|
NM_004744.5(LRAT):c.*1281C>A
|
rs572110901
|
0.00010
|
NM_004744.5(LRAT):c.*549T>C
|
rs886059165
|
0.00010
|
NM_004937.3(CTNS):c.*55C>G
|
rs751680506
|
0.00010
|
NM_005148.4(UNC119):c.626G>A (p.Arg209His)
|
rs375147970
|
0.00010
|
NM_005327.7(HADH):c.676T>C (p.Tyr226His)
|
rs146036912
|
0.00010
|
NM_005334.3(HCFC1):c.3356C>T (p.Thr1119Ile)
|
rs782727601
|
0.00010
|
NM_005518.4(HMGCS2):c.26A>G (p.Lys9Arg)
|
rs144004292
|
0.00010
|
NM_005518.4(HMGCS2):c.586G>C (p.Asp196His)
|
rs149314406
|
0.00010
|
NM_005802.5(TOPORS):c.*100C>G
|
rs886063852
|
0.00010
|
NM_005957.5(MTHFR):c.907G>A (p.Val303Met)
|
rs143466425
|
0.00010
|
NM_006017.3(PROM1):c.-127A>G
|
rs886059206
|
0.00010
|
NM_006017.3(PROM1):c.2485G>A (p.Asp829Asn)
|
rs146434364
|
0.00010
|
NM_006269.2(RP1):c.2016G>T (p.Lys672Asn)
|
rs200252967
|
0.00010
|
NM_006445.4(PRPF8):c.5022C>T (p.His1674=)
|
rs185936129
|
0.00010
|
NM_006623.4(PHGDH):c.1543C>T (p.Leu515=)
|
rs148721434
|
0.00010
|
NM_006899.5(IDH3B):c.1010+8A>G
|
rs200242149
|
0.00010
|
NM_012213.3(MLYCD):c.641+3A>C
|
rs370078811
|
0.00010
|
NM_012463.4(ATP6V0A2):c.*1454A>G
|
rs3748272
|
0.00010
|
NM_012463.4(ATP6V0A2):c.*3505A>G
|
rs868846588
|
0.00010
|
NM_012463.4(ATP6V0A2):c.920C>G (p.Ala307Gly)
|
rs752306671
|
0.00010
|
NM_012469.4(PRPF6):c.-82C>T
|
rs534743637
|
0.00010
|
NM_012469.4(PRPF6):c.2349C>T (p.Ser783=)
|
rs138601260
|
0.00010
|
NM_012469.4(PRPF6):c.61C>T (p.Leu21=)
|
rs775751428
|
0.00010
|
NM_014014.5(SNRNP200):c.87C>T (p.Asp29=)
|
rs140629902
|
0.00010
|
NM_014251.3(SLC25A13):c.1814G>A (p.Arg605Gln)
|
rs548194276
|
0.00010
|
NM_014252.4(SLC25A15):c.278G>A (p.Arg93Gln)
|
rs369201060
|
0.00010
|
NM_014252.4(SLC25A15):c.861C>T (p.Tyr287=)
|
rs148422923
|
0.00010
|
NM_014270.5(SLC7A9):c.419T>C (p.Phe140Ser)
|
rs752881588
|
0.00010
|
NM_014336.5(AIPL1):c.*23C>G
|
rs369568105
|
0.00010
|
NM_014384.3(ACAD8):c.567+12C>T
|
rs375812492
|
0.00010
|
NM_014714.4(IFT140):c.1975C>T (p.Arg659Trp)
|
rs749099710
|
0.00010
|
NM_014714.4(IFT140):c.2987A>G (p.Asn996Ser)
|
rs145645423
|
0.00010
|
NM_014714.4(IFT140):c.823G>A (p.Gly275Arg)
|
rs146163533
|
0.00010
|
NM_015506.3(MMACHC):c.641G>A (p.Arg214His)
|
rs202189863
|
0.00010
|
NM_015662.3(IFT172):c.3772G>A (p.Glu1258Lys)
|
rs529914770
|
0.00010
|
NM_015662.3(IFT172):c.4909G>A (p.Val1637Ile)
|
rs571686284
|
0.00010
|
NM_015662.3(IFT172):c.679C>T (p.His227Tyr)
|
rs142857050
|
0.00010
|
NM_016247.4(IMPG2):c.*1578C>T
|
rs886057674
|
0.00010
|
NM_016247.4(IMPG2):c.1243A>G (p.Asn415Asp)
|
rs138834349
|
0.00010
|
NM_017739.4(POMGNT1):c.355G>A (p.Val119Met)
|
rs148498470
|
0.00010
|
NM_018368.4(LMBRD1):c.*384A>C
|
rs536469891
|
0.00010
|
NM_018368.4(LMBRD1):c.688G>A (p.Ala230Thr)
|
rs376081191
|
0.00010
|
NM_018418.5(SPATA7):c.1033A>G (p.Met345Val)
|
rs375371982
|
0.00010
|
NM_018418.5(SPATA7):c.1606A>G (p.Thr536Ala)
|
rs200231959
|
0.00010
|
NM_018706.7(DHTKD1):c.2525C>T (p.Pro842Leu)
|
rs374419452
|
0.00010
|
NM_020166.5(MCCC1):c.1808A>G (p.Asn603Ser)
|
rs201745589
|
0.00010
|
NM_020208.4(SLC6A20):c.1742G>A (p.Arg581His)
|
rs376448611
|
0.00010
|
NM_020686.6(ABAT):c.45G>C (p.Gln15His)
|
rs138270964
|
0.00010
|
NM_021072.4(HCN1):c.2390T>G (p.Val797Gly)
|
rs150936707
|
0.00010
|
NM_022132.5(MCCC2):c.*260T>A
|
rs886060739
|
0.00010
|
NM_022132.5(MCCC2):c.*856C>T
|
rs886060744
|
0.00010
|
NM_025136.4(OPA3):c.*5258A>G
|
rs886054512
|
0.00010
|
NM_032601.4(MCEE):c.164T>C (p.Val55Ala)
|
rs374147386
|
0.00010
|
NM_032601.4(MCEE):c.235C>G (p.Leu79Val)
|
rs369078225
|
0.00010
|
NM_033100.4(CDHR1):c.*1518G>C
|
rs933006669
|
0.00010
|
NM_033100.4(CDHR1):c.1072G>A (p.Gly358Arg)
|
rs140077265
|
0.00010
|
NM_052845.4(MMAB):c.*2503G>A
|
rs886048916
|
0.00010
|
NM_052845.4(MMAB):c.*509C>T
|
rs886048923
|
0.00010
|
NM_058179.4(PSAT1):c.868G>A (p.Val290Ile)
|
rs200049723
|
0.00010
|
NM_144596.4(TTC8):c.1051C>T (p.Arg351Trp)
|
rs755412340
|
0.00010
|
NM_144596.4(TTC8):c.433G>A (p.Ala145Thr)
|
rs540856754
|
0.00010
|
NM_152419.3(HGSNAT):c.1228C>A (p.Leu410Met)
|
rs367831580
|
0.00010
|
NM_152419.3(HGSNAT):c.1688T>G (p.Val563Gly)
|
rs773104757
|
0.00010
|
NM_152419.3(HGSNAT):c.32T>C (p.Leu11Pro)
|
rs1025643467
|
0.00010
|
NM_152443.3(RDH12):c.701G>A (p.Arg234His)
|
rs750636662
|
0.00010
|
NM_152542.5(PPM1K):c.388G>A (p.Gly130Ser)
|
rs371035911
|
0.00010
|
NM_152542.5(PPM1K):c.974C>T (p.Ala325Val)
|
rs142490765
|
0.00010
|
NM_201548.5(CERKL):c.191G>A (p.Ser64Asn)
|
rs61760902
|
0.00010
|
NM_206933.4(USH2A):c.11506C>T (p.Pro3836Ser)
|
rs371987720
|
0.00010
|
NM_206933.4(USH2A):c.12897G>T (p.Arg4299Ser)
|
rs143898511
|
0.00010
|
NM_206933.4(USH2A):c.14567A>G (p.Asn4856Ser)
|
rs139799843
|
0.00010
|
NM_206933.4(USH2A):c.3139C>G (p.Leu1047Val)
|
rs727503735
|
0.00010
|
NM_206933.4(USH2A):c.4046C>T (p.Ser1349Phe)
|
rs145148501
|
0.00010
|
NM_206933.4(USH2A):c.4445C>T (p.Thr1482Ile)
|
rs200790812
|
0.00010
|
NM_206933.4(USH2A):c.7379G>A (p.Arg2460His)
|
rs368681648
|
0.00010
|
NM_206933.4(USH2A):c.7936C>A (p.Pro2646Thr)
|
rs760777446
|
0.00010
|
NC_000022.11:g.40346141T>A
|
rs1261528478
|
0.00009
|
NC_000022.11:g.40346143T>C
|
rs978591450
|
0.00009
|
NC_000022.11:g.40346381A>C
|
rs771316335
|
0.00009
|
NM_000017.4(ACADS):c.*4C>T
|
rs774815274
|
0.00009
|
NM_000017.4(ACADS):c.1108A>G (p.Met370Val)
|
rs566325901
|
0.00009
|
NM_000017.4(ACADS):c.989G>A (p.Arg330His)
|
rs199633532
|
0.00009
|
NM_000018.4(ACADVL):c.1005C>A (p.His335Gln)
|
rs753624994
|
0.00009
|
NM_000018.4(ACADVL):c.114G>C (p.Arg38=)
|
rs777380964
|
0.00009
|
NM_000018.4(ACADVL):c.1273G>A (p.Ala425Thr)
|
rs138834083
|
0.00009
|
NM_000018.4(ACADVL):c.1613G>A (p.Arg538Gln)
|
rs201350598
|
0.00009
|
NM_000018.4(ACADVL):c.1733T>C (p.Met578Thr)
|
rs375806217
|
0.00009
|
NM_000018.4(ACADVL):c.1803G>A (p.Met601Ile)
|
rs201462718
|
0.00009
|
NM_000018.4(ACADVL):c.276C>T (p.Ser92=)
|
rs530278910
|
0.00009
|
NM_000019.3(ACAT1):c.*344T>C
|
rs776705661
|
0.00009
|
NM_000048.4(ASL):c.1270G>A (p.Val424Met)
|
rs368264870
|
0.00009
|
NM_000071.3(CBS):c.404C>T (p.Thr135Met)
|
rs144832032
|
0.00009
|
NM_000108.5(DLD):c.*1877A>G
|
rs182010485
|
0.00009
|
NM_000126.4(ETFA):c.-59C>T
|
rs80155214
|
0.00009
|
NM_000126.4(ETFA):c.11C>T (p.Ala4Val)
|
rs761552468
|
0.00009
|
NM_000137.4(FAH):c.1097C>T (p.Ser366Leu)
|
rs372685249
|
0.00009
|
NM_000156.6(GAMT):c.587C>T (p.Ala196Val)
|
rs565109128
|
0.00009
|
NM_000156.6(GAMT):c.662G>A (p.Arg221His)
|
rs766553422
|
0.00009
|
NM_000161.3(GCH1):c.328C>G (p.Gln110Glu)
|
rs748944982
|
0.00009
|
NM_000161.3(GCH1):c.593G>A (p.Arg198Gln)
|
rs201238926
|
0.00009
|
NM_000161.3(GCH1):c.610G>A (p.Val204Ile)
|
rs200891969
|
0.00009
|
NM_000170.3(GLDC):c.-168G>A
|
rs891076552
|
0.00009
|
NM_000170.3(GLDC):c.2378A>T (p.Asp793Val)
|
rs150833015
|
0.00009
|
NM_000170.3(GLDC):c.2607C>A (p.Pro869=)
|
rs386833565
|
0.00009
|
NM_000170.3(GLDC):c.3010C>G (p.Pro1004Ala)
|
rs773642256
|
0.00009
|
NM_000182.5(HADHA):c.1284C>T (p.Asn428=)
|
rs199535840
|
0.00009
|
NM_000182.5(HADHA):c.1655C>T (p.Ala552Val)
|
rs369588406
|
0.00009
|
NM_000182.5(HADHA):c.2147-8C>G
|
rs368976628
|
0.00009
|
NM_000187.4(HGD):c.1206A>G (p.Ser402=)
|
rs140500816
|
0.00009
|
NM_000191.3(HMGCL):c.375C>T (p.Val125=)
|
rs139102957
|
0.00009
|
NM_000254.3(MTR):c.355A>G (p.Met119Val)
|
rs538707626
|
0.00009
|
NM_000255.4(MMUT):c.*1184T>C
|
rs745494100
|
0.00009
|
NM_000255.4(MMUT):c.*1252T>C
|
rs781039564
|
0.00009
|
NM_000255.4(MMUT):c.2087A>C (p.Asp696Ala)
|
rs759407117
|
0.00009
|
NM_000274.4(OAT):c.1015-5C>T
|
rs764963374
|
0.00009
|
NM_000277.3(PAH):c.60+9C>T
|
rs369454152
|
0.00009
|
NM_000282.4(PCCA):c.36C>T (p.Val12=)
|
rs375516917
|
0.00009
|
NM_000283.4(PDE6B):c.2193+5G>A
|
rs576895229
|
0.00009
|
NM_000283.4(PDE6B):c.2326G>A (p.Asp776Asn)
|
rs141563823
|
0.00009
|
NM_000283.4(PDE6B):c.967G>A (p.Gly323Ser)
|
rs140224236
|
0.00009
|
NM_000317.3(PTS):c.174A>G (p.Thr58=)
|
rs745627441
|
0.00009
|
NM_000322.5(PRPH2):c.*350C>T
|
rs769850707
|
0.00009
|
NM_000322.5(PRPH2):c.*743G>A
|
rs941727712
|
0.00009
|
NM_000326.5(RLBP1):c.*256G>A
|
rs1000064967
|
0.00009
|
NM_000329.3(RPE65):c.1154C>T (p.Thr385Met)
|
rs201379753
|
0.00009
|
NM_000329.3(RPE65):c.242G>T (p.Arg81Ile)
|
rs1429137932
|
0.00009
|
NM_000329.3(RPE65):c.295G>A (p.Val99Ile)
|
rs143056561
|
0.00009
|
NM_000329.3(RPE65):c.902A>G (p.Asn301Ser)
|
rs201075875
|
0.00009
|
NM_000341.4(SLC3A1):c.1717T>C (p.Leu573=)
|
rs148703534
|
0.00009
|
NM_000341.4(SLC3A1):c.1799G>A (p.Gly600Glu)
|
rs141944551
|
0.00009
|
NM_000341.4(SLC3A1):c.1889G>A (p.Gly630Asp)
|
rs150557210
|
0.00009
|
NM_000353.3(TAT):c.1178C>T (p.Thr393Met)
|
rs142634310
|
0.00009
|
NM_000360.4(TH):c.90G>A (p.Met30Ile)
|
rs147416823
|
0.00009
|
NM_000387.5(SLC25A20):c.-130C>G
|
rs150795620
|
0.00009
|
NM_000387.5(SLC25A20):c.-195A>C
|
rs886058661
|
0.00009
|
NM_000440.3(PDE6A):c.*1695G>A
|
rs867317358
|
0.00009
|
NM_000440.3(PDE6A):c.1745G>A (p.Arg582His)
|
rs77760924
|
0.00009
|
NM_000440.3(PDE6A):c.2119C>T (p.Arg707Trp)
|
rs142092713
|
0.00009
|
NM_000440.3(PDE6A):c.274G>A (p.Asp92Asn)
|
rs199924410
|
0.00009
|
NM_000440.3(PDE6A):c.710G>A (p.Arg237His)
|
rs772815917
|
0.00009
|
NM_000440.3(PDE6A):c.830T>C (p.Val277Ala)
|
rs145608358
|
0.00009
|
NM_000481.4(AMT):c.589G>C (p.Asp197His)
|
rs200550585
|
0.00009
|
NM_000531.6(OTC):c.*105C>T
|
rs1036076773
|
0.00009
|
NM_000531.6(OTC):c.385C>T (p.Arg129Cys)
|
rs140046498
|
0.00009
|
NM_000531.6(OTC):c.626C>G (p.Ala209Gly)
|
rs72558417
|
0.00009
|
NM_000532.5(PCCB):c.1215C>T (p.Tyr405=)
|
rs191375566
|
0.00009
|
NM_000541.5(SAG):c.866C>T (p.Ala289Val)
|
rs373460295
|
0.00009
|
NM_000554.6(CRX):c.*2040G>A
|
rs139340702
|
0.00009
|
NM_000554.6(CRX):c.790G>A (p.Val264Met)
|
rs138146799
|
0.00009
|
NM_000687.4(AHCY):c.100C>T (p.Arg34Cys)
|
rs145239391
|
0.00009
|
NM_000687.4(AHCY):c.698G>A (p.Arg233Gln)
|
rs573146559
|
0.00009
|
NM_000709.4(BCKDHA):c.1252G>A (p.Ala418Thr)
|
rs368567109
|
0.00009
|
NM_000709.4(BCKDHA):c.943C>T (p.Arg315Trp)
|
rs373336888
|
0.00009
|
NM_000717.5(CA4):c.753A>T (p.Ala251=)
|
rs140515828
|
0.00009
|
NM_001002755.4(NFU1):c.299C>G (p.Ala100Gly)
|
rs139171264
|
0.00009
|
NM_001002755.4(NFU1):c.698C>T (p.Pro233Leu)
|
rs777602937
|
0.00009
|
NM_001029883.3(PCARE):c.*1714G>A
|
rs1040232674
|
0.00009
|
NM_001029883.3(PCARE):c.2369A>C (p.Glu790Ala)
|
rs200963687
|
0.00009
|
NM_001029883.3(PCARE):c.2803G>A (p.Glu935Lys)
|
rs200817926
|
0.00009
|
NM_001031710.3(KLHL7):c.*471T>C
|
rs768616761
|
0.00009
|
NM_001080.3(ALDH5A1):c.*2675G>A
|
rs912565317
|
0.00009
|
NM_001080.3(ALDH5A1):c.*318C>T
|
rs748017937
|
0.00009
|
NM_001080.3(ALDH5A1):c.*696T>C
|
rs886061272
|
0.00009
|
NM_001080.3(ALDH5A1):c.133C>A (p.Arg45Ser)
|
rs1045445950
|
0.00009
|
NM_001080.3(ALDH5A1):c.32G>A (p.Gly11Glu)
|
rs373315916
|
0.00009
|
NM_001080.3(ALDH5A1):c.727-13T>G
|
rs187404409
|
0.00009
|
NM_001081.4(CUBN):c.10351G>A (p.Asp3451Asn)
|
rs145661638
|
0.00009
|
NM_001081.4(CUBN):c.10736C>T (p.Ser3579Phe)
|
rs754645310
|
0.00009
|
NM_001081.4(CUBN):c.1111+5T>C
|
rs199662739
|
0.00009
|
NM_001081.4(CUBN):c.2483G>A (p.Arg828His)
|
rs199527884
|
0.00009
|
NM_001081.4(CUBN):c.536G>T (p.Gly179Val)
|
rs370373276
|
0.00009
|
NM_001081.4(CUBN):c.5862G>A (p.Lys1954=)
|
rs181991723
|
0.00009
|
NM_001081.4(CUBN):c.614C>T (p.Thr205Met)
|
rs374652141
|
0.00009
|
NM_001081.4(CUBN):c.8825A>G (p.Asn2942Ser)
|
rs766855509
|
0.00009
|
NM_001081.4(CUBN):c.9139A>G (p.Ile3047Val)
|
rs376118603
|
0.00009
|
NM_001127222.2(CACNA1A):c.2104+6C>T
|
rs372970603
|
0.00009
|
NM_001127222.2(CACNA1A):c.2105-15C>T
|
rs190471428
|
0.00009
|
NM_001127222.2(CACNA1A):c.6044G>A (p.Gly2015Glu)
|
rs772988279
|
0.00009
|
NM_001142800.2(EYS):c.1747G>T (p.Asp583Tyr)
|
rs776055954
|
0.00009
|
NM_001142800.2(EYS):c.1766+2598del
|
rs765911767
|
0.00009
|
NM_001201543.2(FAM161A):c.1044T>C (p.Tyr348=)
|
rs549784796
|
0.00009
|
NM_001201543.2(FAM161A):c.1668G>C (p.Gln556His)
|
rs201109013
|
0.00009
|
NM_001201543.2(FAM161A):c.916C>T (p.Arg306Trp)
|
rs183615774
|
0.00009
|
NM_001243279.3(ACSF3):c.1081G>A (p.Gly361Ser)
|
rs145285434
|
0.00009
|
NM_001243279.3(ACSF3):c.122A>T (p.Asp41Val)
|
rs545886514
|
0.00009
|
NM_001243279.3(ACSF3):c.391G>A (p.Ala131Thr)
|
rs144411003
|
0.00009
|
NM_001243279.3(ACSF3):c.672C>T (p.Thr224=)
|
rs150374081
|
0.00009
|
NM_001258392.3(CLPB):c.1803G>A (p.Val601=)
|
rs766600801
|
0.00009
|
NM_001271.4(CHD2):c.4058C>T (p.Pro1353Leu)
|
rs755088564
|
0.00009
|
NM_001297.5(CNGB1):c.*451G>C
|
rs191296025
|
0.00009
|
NM_001297.5(CNGB1):c.*980C>T
|
rs560274550
|
0.00009
|
NM_001297.5(CNGB1):c.2452C>A (p.Leu818Ile)
|
rs200323140
|
0.00009
|
NM_001297.5(CNGB1):c.2662G>A (p.Ala888Thr)
|
rs368328328
|
0.00009
|
NM_001352514.2(HLCS):c.1974dup (p.Val659fs)
|
rs767533946
|
0.00009
|
NM_001352514.2(HLCS):c.2432A>G (p.Tyr811Cys)
|
rs776535574
|
0.00009
|
NM_001367823.1(ARHGEF18):c.3580C>T (p.Arg1194Cys)
|
rs749113504
|
0.00009
|
NM_001370658.1(BTD):c.1395C>G (p.His465Gln)
|
rs201604102
|
0.00009
|
NM_001379270.1(CNGA1):c.672G>A (p.Leu224=)
|
rs149504668
|
0.00009
|
NM_001609.4(ACADSB):c.*323G>A
|
rs886046785
|
0.00009
|
NM_001698.3(AUH):c.*237G>A
|
rs933932318
|
0.00009
|
NM_001698.3(AUH):c.20C>T (p.Ala7Val)
|
rs863223911
|
0.00009
|
NM_001698.3(AUH):c.998C>T (p.Pro333Leu)
|
rs541546111
|
0.00009
|
NM_001739.2(CA5A):c.123G>T (p.Trp41Cys)
|
rs374378501
|
0.00009
|
NM_001875.5(CPS1):c.1087-7C>T
|
rs202117044
|
0.00009
|
NM_001875.5(CPS1):c.1154T>C (p.Ile385Thr)
|
rs201955205
|
0.00009
|
NM_001875.5(CPS1):c.295C>A (p.Pro99Thr)
|
rs140999077
|
0.00009
|
NM_001876.4(CPT1A):c.1910C>T (p.Ser637Phe)
|
rs150459546
|
0.00009
|
NM_001876.4(CPT1A):c.2028+7C>G
|
rs768465007
|
0.00009
|
NM_001902.6(CTH):c.*522T>A
|
rs374567270
|
0.00009
|
NM_001902.6(CTH):c.*681G>A
|
rs961613194
|
0.00009
|
NM_001918.5(DBT):c.*3336_*3338dup
|
rs886044950
|
0.00009
|
NM_001918.5(DBT):c.*3789A>C
|
rs757800211
|
0.00009
|
NM_001918.5(DBT):c.*4313G>A
|
rs187287215
|
0.00009
|
NM_001918.5(DBT):c.*8118T>C
|
rs758082965
|
0.00009
|
NM_001918.5(DBT):c.*8670A>G
|
rs959425245
|
0.00009
|
NM_001918.5(DBT):c.*9228C>T
|
rs1009840621
|
0.00009
|
NM_002108.4(HAL):c.1594G>A (p.Val532Ile)
|
rs183059673
|
0.00009
|
NM_002225.5(IVD):c.*123G>A
|
rs536728525
|
0.00009
|
NM_002225.5(IVD):c.*2205C>T
|
rs185128282
|
0.00009
|
NM_002454.3(MTRR):c.1677-2dup
|
rs747255318
|
0.00009
|
NM_002860.4(ALDH18A1):c.1264C>G (p.Leu422Val)
|
rs142712849
|
0.00009
|
NM_002860.4(ALDH18A1):c.194G>T (p.Ser65Ile)
|
rs142746793
|
0.00009
|
NM_002900.3(RBP3):c.2184C>T (p.Tyr728=)
|
rs34460089
|
0.00009
|
NM_002900.3(RBP3):c.2591G>A (p.Arg864Gln)
|
rs371184896
|
0.00009
|
NM_002900.3(RBP3):c.3707G>A (p.Arg1236Lys)
|
rs3740296
|
0.00009
|
NM_003060.4(SLC22A5):c.728A>C (p.Tyr243Ser)
|
rs1321621475
|
0.00009
|
NM_003322.6(TULP1):c.1169G>A (p.Arg390His)
|
rs139402633
|
0.00009
|
NM_003322.6(TULP1):c.184C>T (p.Pro62Ser)
|
rs781650198
|
0.00009
|
NM_003748.4(ALDH4A1):c.-24G>A
|
rs886045707
|
0.00009
|
NM_003748.4(ALDH4A1):c.487G>A (p.Ala163Thr)
|
rs201780333
|
0.00009
|
NM_003982.4(SLC7A7):c.1128A>C (p.Glu376Asp)
|
rs139619724
|
0.00009
|
NM_004170.6(SLC1A1):c.1231G>A (p.Val411Met)
|
rs199813988
|
0.00009
|
NM_004183.4(BEST1):c.*24C>T
|
rs142482048
|
0.00009
|
NM_004453.4(ETFDH):c.1692A>T (p.Gly564=)
|
rs377544087
|
0.00009
|
NM_004577.4(PSPH):c.673G>A (p.Glu225Lys)
|
rs536712417
|
0.00009
|
NM_004744.5(LRAT):c.*2458C>T
|
rs538201546
|
0.00009
|
NM_004744.5(LRAT):c.*632T>C
|
rs886059166
|
0.00009
|
NM_004937.3(CTNS):c.*1176C>G
|
rs553878990
|
0.00009
|
NM_004937.3(CTNS):c.*2036G>A
|
rs184828971
|
0.00009
|
NM_004937.3(CTNS):c.556A>C (p.Ile186Leu)
|
rs548772179
|
0.00009
|
NM_004975.4(KCNB1):c.1266G>C (p.Glu422Asp)
|
rs755843579
|
0.00009
|
NM_005050.4(ABCD4):c.5C>T (p.Ala2Val)
|
rs368445200
|
0.00009
|
NM_005050.4(ABCD4):c.956A>G (p.Tyr319Cys)
|
rs201777056
|
0.00009
|
NM_005327.7(HADH):c.-34C>T
|
rs748286204
|
0.00009
|
NM_005518.4(HMGCS2):c.146C>T (p.Thr49Ile)
|
rs756404916
|
0.00009
|
NM_005518.4(HMGCS2):c.71C>T (p.Thr24Ile)
|
rs369221781
|
0.00009
|
NM_005589.4(ALDH6A1):c.*1050C>G
|
rs918680042
|
0.00009
|
NM_005589.4(ALDH6A1):c.186+6C>T
|
rs188543079
|
0.00009
|
NM_005957.5(MTHFR):c.1333C>T (p.Arg445Trp)
|
rs138469955
|
0.00009
|
NM_006017.3(PROM1):c.376G>A (p.Val126Met)
|
rs199556426
|
0.00009
|
NM_006269.2(RP1):c.3036G>C (p.Leu1012=)
|
rs373971446
|
0.00009
|
NM_006269.2(RP1):c.3040G>C (p.Asp1014His)
|
rs200186332
|
0.00009
|
NM_006269.2(RP1):c.6169C>G (p.Gln2057Glu)
|
rs201860457
|
0.00009
|
NM_006343.3(MERTK):c.-119C>T
|
rs1224407714
|
0.00009
|
NM_006445.4(PRPF8):c.1409+13A>G
|
rs763003164
|
0.00009
|
NM_006445.4(PRPF8):c.283A>G (p.Met95Val)
|
rs373157040
|
0.00009
|
NM_006623.4(PHGDH):c.422C>T (p.Thr141Ile)
|
rs200037593
|
0.00009
|
NM_006859.4(LIAS):c.20A>T (p.Asp7Val)
|
rs368786581
|
0.00009
|
NM_012213.3(MLYCD):c.577G>A (p.Gly193Arg)
|
rs369616872
|
0.00009
|
NM_012213.3(MLYCD):c.703A>G (p.Arg235Gly)
|
rs369427189
|
0.00009
|
NM_012463.4(ATP6V0A2):c.*3042T>G
|
rs886049076
|
0.00009
|
NM_012463.4(ATP6V0A2):c.*742G>A
|
rs964496583
|
0.00009
|
NM_012463.4(ATP6V0A2):c.1524C>T (p.Val508=)
|
rs182439983
|
0.00009
|
NM_012463.4(ATP6V0A2):c.28A>G (p.Met10Val)
|
rs758214692
|
0.00009
|
NM_012469.4(PRPF6):c.1305+11C>T
|
rs190123178
|
0.00009
|
NM_012469.4(PRPF6):c.2425A>G (p.Asn809Asp)
|
rs373071691
|
0.00009
|
NM_014049.4(ACAD9):c.-91G>T
|
rs749695064
|
0.00009
|
NM_014049.5(ACAD9):c.1634C>G (p.Ala545Gly)
|
rs375541221
|
0.00009
|
NM_014249.4(NR2E3):c.843C>T (p.Pro281=)
|
rs555211505
|
0.00009
|
NM_014251.3(SLC25A13):c.*191T>C
|
rs529835831
|
0.00009
|
NM_014252.4(SLC25A15):c.147C>G (p.Asp49Glu)
|
rs187685447
|
0.00009
|
NM_014336.5(AIPL1):c.*749G>A
|
rs574921672
|
0.00009
|
NM_014362.4(HIBCH):c.1036G>A (p.Val346Ile)
|
rs367938014
|
0.00009
|
NM_014384.3(ACAD8):c.*82G>C
|
rs964955100
|
0.00009
|
NM_014384.3(ACAD8):c.110-9T>C
|
rs371550147
|
0.00009
|
NM_014384.3(ACAD8):c.481A>G (p.Thr161Ala)
|
rs186756646
|
0.00009
|
NM_014714.4(IFT140):c.1504G>A (p.Val502Ile)
|
rs183261797
|
0.00009
|
NM_014714.4(IFT140):c.4303G>A (p.Val1435Ile)
|
rs145746065
|
0.00009
|
NM_014714.4(IFT140):c.4354G>A (p.Glu1452Lys)
|
rs142106374
|
0.00009
|
NM_015506.3(MMACHC):c.650A>T (p.Glu217Val)
|
rs199641732
|
0.00009
|
NM_015629.4(PRPF31):c.855+14G>A
|
rs370512426
|
0.00009
|
NM_015662.3(IFT172):c.145C>T (p.Arg49Trp)
|
rs141043554
|
0.00009
|
NM_015662.3(IFT172):c.2122G>A (p.Val708Met)
|
rs140506322
|
0.00009
|
NM_015662.3(IFT172):c.2131G>A (p.Ala711Thr)
|
rs144620711
|
0.00009
|
NM_015662.3(IFT172):c.247A>G (p.Ile83Val)
|
rs142227350
|
0.00009
|
NM_015662.3(IFT172):c.3538C>T (p.His1180Tyr)
|
rs746868013
|
0.00009
|
NM_015662.3(IFT172):c.3673C>T (p.Arg1225Trp)
|
rs148305851
|
0.00009
|
NM_015662.3(IFT172):c.4210G>A (p.Gly1404Ser)
|
rs763238244
|
0.00009
|
NM_015662.3(IFT172):c.5128G>A (p.Asp1710Asn)
|
rs542662514
|
0.00009
|
NM_015702.3(MMADHC):c.-16A>G
|
rs144111552
|
0.00009
|
NM_016247.4(IMPG2):c.*2653T>C
|
rs112670504
|
0.00009
|
NM_016247.4(IMPG2):c.*300T>G
|
rs111515750
|
0.00009
|
NM_016373.4(WWOX):c.406A>G (p.Ile136Val)
|
rs193027041
|
0.00009
|
NM_018368.4(LMBRD1):c.*26A>G
|
rs758279877
|
0.00009
|
NM_018418.5(SPATA7):c.1425G>T (p.Leu475Phe)
|
rs181052380
|
0.00009
|
NM_018418.5(SPATA7):c.1622T>C (p.Ile541Thr)
|
rs139510848
|
0.00009
|
NM_018474.6(KIZ):c.284C>T (p.Thr95Ile)
|
rs367970443
|
0.00009
|
NM_018706.7(DHTKD1):c.922C>T (p.Arg308Cys)
|
rs377213027
|
0.00009
|
NM_020166.5(MCCC1):c.294C>T (p.Ile98=)
|
rs368288499
|
0.00009
|
NM_020208.4(SLC6A20):c.1A>G (p.Met1Val)
|
rs149885788
|
0.00009
|
NM_020686.6(ABAT):c.1158G>A (p.Pro386=)
|
rs374865268
|
0.00009
|
NM_020686.6(ABAT):c.1345A>G (p.Ile449Val)
|
rs147782370
|
0.00009
|
NM_020686.6(ABAT):c.26G>A (p.Arg9His)
|
rs531783337
|
0.00009
|
NM_022132.5(MCCC2):c.*1272A>G
|
rs772502944
|
0.00009
|
NM_022132.5(MCCC2):c.650C>T (p.Thr217Ile)
|
rs144631139
|
0.00009
|
NM_022367.4(SEMA4A):c.*522A>T
|
rs761114677
|
0.00009
|
NM_025136.4(OPA3):c.*1863T>G
|
rs769185702
|
0.00009
|
NM_025136.4(OPA3):c.*4773A>G
|
rs1409082190
|
0.00009
|
NM_025136.4(OPA3):c.*5496C>T
|
rs886054511
|
0.00009
|
NM_030813.6(CLPB):c.653G>C (p.Gly218Ala)
|
rs377766896
|
0.00009
|
NM_032316.3(NICN1):c.*2177G>A
|
rs573551723
|
0.00009
|
NM_032601.4(MCEE):c.520G>C (p.Glu174Gln)
|
rs200334627
|
0.00009
|
NM_032861.4(SERAC1):c.583C>T (p.Pro195Ser)
|
rs546374310
|
0.00009
|
NM_033100.4(CDHR1):c.1432G>A (p.Val478Ile)
|
rs756095042
|
0.00009
|
NM_033100.4(CDHR1):c.526-14C>A
|
rs745955360
|
0.00009
|
NM_033100.4(CDHR1):c.720G>C (p.Gln240His)
|
rs149002238
|
0.00009
|
NM_033100.4(CDHR1):c.784-3G>A
|
rs201384219
|
0.00009
|
NM_052845.4(MMAB):c.*301C>T
|
rs1053960970
|
0.00009
|
NM_052845.4(MMAB):c.387G>A (p.Ala129=)
|
rs549807022
|
0.00009
|
NM_052845.4(MMAB):c.561C>T (p.Ala187=)
|
rs370773720
|
0.00009
|
NM_054012.4(ASS1):c.1003C>T (p.Arg335Cys)
|
rs373514077
|
0.00009
|
NM_054012.4(ASS1):c.19G>A (p.Val7Met)
|
rs149938546
|
0.00009
|
NM_054012.4(ASS1):c.919C>T (p.Arg307Cys)
|
rs183276875
|
0.00009
|
NM_058179.4(PSAT1):c.*719G>A
|
rs898367741
|
0.00009
|
NM_058179.4(PSAT1):c.1074C>T (p.Ala358=)
|
rs116103106
|
0.00009
|
NM_058179.4(PSAT1):c.511G>C (p.Ala171Pro)
|
rs115263053
|
0.00009
|
NM_138393.4(REEP6):c.223G>A (p.Glu75Lys)
|
rs144942685
|
0.00009
|
NM_144596.4(TTC8):c.1294G>A (p.Glu432Lys)
|
rs114401181
|
0.00009
|
NM_153006.3(NAGS):c.1274A>G (p.Asn425Ser)
|
rs752635329
|
0.00009
|
NM_153006.3(NAGS):c.299C>G (p.Ser100Trp)
|
rs764150659
|
0.00009
|
NM_153006.3(NAGS):c.715G>A (p.Val239Ile)
|
rs143427275
|
0.00009
|
NM_172250.3(MMAA):c.*2808G>A
|
rs543019315
|
0.00009
|
NM_172250.3(MMAA):c.*4539T>G
|
rs558703264
|
0.00009
|
NM_172250.3(MMAA):c.440-6C>T
|
rs374784209
|
0.00009
|
NM_172250.3(MMAA):c.7A>G (p.Met3Val)
|
rs527340737
|
0.00009
|
NM_172250.3(MMAA):c.940C>T (p.Arg314Cys)
|
rs374795215
|
0.00009
|
NM_177965.4(CFAP418):c.*336G>A
|
rs1026201093
|
0.00009
|
NM_177965.4(CFAP418):c.194G>T (p.Ser65Ile)
|
rs969339085
|
0.00009
|
NM_183050.4(BCKDHB):c.*466G>T
|
rs886061809
|
0.00009
|
NM_194279.4(ISCA2):c.361G>T (p.Val121Leu)
|
rs201908228
|
0.00009
|
NM_201253.3(CRB1):c.*261A>G
|
rs747349828
|
0.00009
|
NM_201253.3(CRB1):c.*324C>A
|
rs190166697
|
0.00009
|
NM_201253.3(CRB1):c.1829A>G (p.Asn610Ser)
|
rs143655463
|
0.00009
|
NM_201253.3(CRB1):c.3809A>G (p.Asn1270Ser)
|
rs138667698
|
0.00009
|
NM_201548.5(CERKL):c.895+13C>T
|
rs187829374
|
0.00009
|
NM_201548.5(CERKL):c.949C>T (p.Arg317Cys)
|
rs142530341
|
0.00009
|
NM_206933.4(USH2A):c.11923G>A (p.Ala3975Thr)
|
rs372327495
|
0.00009
|
NM_206933.4(USH2A):c.12332C>T (p.Ser4111Phe)
|
rs142095945
|
0.00009
|
NM_206933.4(USH2A):c.12818A>G (p.Tyr4273Cys)
|
rs777874309
|
0.00009
|
NM_206933.4(USH2A):c.13217T>C (p.Leu4406Pro)
|
rs745693690
|
0.00009
|
NM_206933.4(USH2A):c.14902G>A (p.Asp4968Asn)
|
rs764124390
|
0.00009
|
NM_206933.4(USH2A):c.1981C>G (p.Gln661Glu)
|
rs140955723
|
0.00009
|
NM_206933.4(USH2A):c.2035G>A (p.Gly679Arg)
|
rs367693972
|
0.00009
|
NM_206933.4(USH2A):c.2414G>C (p.Gly805Ala)
|
rs587783023
|
0.00009
|
NM_206933.4(USH2A):c.3177G>A (p.Pro1059=)
|
rs767648070
|
0.00009
|
NM_206933.4(USH2A):c.3226C>T (p.Pro1076Ser)
|
rs139089840
|
0.00009
|
NM_206933.4(USH2A):c.4618G>A (p.Asp1540Asn)
|
rs752238803
|
0.00009
|
NM_212552.3(BOLA3):c.296G>A (p.Arg99Gln)
|
rs202046520
|
0.00009
|
NC_000022.11:g.40346247A>G
|
rs1283422769
|
0.00008
|
NM_000018.4(ACADVL):c.1182+17C>A
|
rs191276923
|
0.00008
|
NM_000019.4(ACAT1):c.91C>T (p.Arg31Trp)
|
rs199952982
|
0.00008
|
NM_000048.4(ASL):c.1342G>A (p.Val448Ile)
|
rs139410488
|
0.00008
|
NM_000048.4(ASL):c.571C>T (p.Arg191Trp)
|
rs143508372
|
0.00008
|
NM_000048.4(ASL):c.72C>T (p.Phe24=)
|
rs760059034
|
0.00008
|
NM_000071.3(CBS):c.134G>A (p.Arg45Gln)
|
rs759502207
|
0.00008
|
NM_000071.3(CBS):c.400G>A (p.Gly134Arg)
|
rs147474549
|
0.00008
|
NM_000071.3(CBS):c.847G>A (p.Glu283Lys)
|
rs765811825
|
0.00008
|
NM_000126.4(ETFA):c.-56C>A
|
rs548701046
|
0.00008
|
NM_000126.4(ETFA):c.505C>T (p.Arg169Cys)
|
rs369713466
|
0.00008
|
NM_000159.4(GCDH):c.1299G>A (p.Ala433=)
|
rs150271870
|
0.00008
|
NM_000159.4(GCDH):c.946G>A (p.Ala316Thr)
|
rs370059118
|
0.00008
|
NM_000161.3(GCH1):c.509+3A>G
|
rs369661042
|
0.00008
|
NM_000170.3(GLDC):c.832G>A (p.Glu278Lys)
|
rs779837711
|
0.00008
|
NM_000170.3(GLDC):c.94C>T (p.Pro32Ser)
|
rs1004754180
|
0.00008
|
NM_000182.5(HADHA):c.*110G>A
|
rs952439873
|
0.00008
|
NM_000255.4(MMUT):c.*200A>T
|
rs886061556
|
0.00008
|
NM_000260.4(MYO7A):c.3503+12G>A
|
rs78509218
|
0.00008
|
NM_000274.4(OAT):c.283C>T (p.Pro95Ser)
|
rs372105047
|
0.00008
|
NM_000277.3(PAH):c.1140G>A (p.Thr380=)
|
rs373763334
|
0.00008
|
NM_000282.4(PCCA):c.1289G>A (p.Arg430Gln)
|
rs187346936
|
0.00008
|
NM_000282.4(PCCA):c.1840G>A (p.Val614Ile)
|
rs201570336
|
0.00008
|
NM_000282.4(PCCA):c.490A>G (p.Ile164Val)
|
rs539693612
|
0.00008
|
NM_000283.4(PDE6B):c.2269-11C>T
|
rs370169775
|
0.00008
|
NM_000320.3(QDPR):c.*278G>A
|
rs765235173
|
0.00008
|
NM_000322.5(PRPH2):c.*626A>G
|
rs1383185417
|
0.00008
|
NM_000327.4(ROM1):c.*255C>T
|
rs147684283
|
0.00008
|
NM_000327.4(ROM1):c.906G>A (p.Ala302=)
|
rs200213584
|
0.00008
|
NM_000329.3(RPE65):c.1070C>A (p.Ala357Asp)
|
rs187198628
|
0.00008
|
NM_000329.3(RPE65):c.253C>T (p.Arg85Cys)
|
rs763317722
|
0.00008
|
NM_000341.4(SLC3A1):c.1012G>C (p.Asp338His)
|
rs140452488
|
0.00008
|
NM_000353.3(TAT):c.890G>A (p.Arg297Gln)
|
rs367954923
|
0.00008
|
NM_000360.4(TH):c.1475C>T (p.Ala492Val)
|
rs201219944
|
0.00008
|
NM_000360.4(TH):c.576+6_576+14del
|
rs775531779
|
0.00008
|
NM_000360.4(TH):c.685A>T (p.Ile229Phe)
|
rs778613708
|
0.00008
|
NM_000532.5(PCCB):c.561C>T (p.Ser187=)
|
rs145057852
|
0.00008
|
NM_000539.3(RHO):c.399C>A (p.Ile133=)
|
rs372812523
|
0.00008
|
NM_000541.5(SAG):c.298G>A (p.Ala100Thr)
|
rs771117432
|
0.00008
|
NM_000554.6(CRX):c.*2343G>A
|
rs928747077
|
0.00008
|
NM_000666.3(ACY1):c.437-19G>A
|
rs757575874
|
0.00008
|
NM_000883.4(IMPDH1):c.-77G>C
|
rs1002641912
|
0.00008
|
NM_001002755.2(NFU1):c.-66C>T
|
rs753424678
|
0.00008
|
NM_001010867.4(IBA57):c.259G>A (p.Gly87Arg)
|
rs1026408197
|
0.00008
|
NM_001012720.2(RGR):c.-17A>G
|
rs377314145
|
0.00008
|
NM_001024845.3(SLC6A9):c.1709G>A (p.Arg570His)
|
rs141553063
|
0.00008
|
NM_001024845.3(SLC6A9):c.490A>C (p.Asn164His)
|
rs199558856
|
0.00008
|
NM_001029883.3(PCARE):c.*1517G>A
|
rs886055914
|
0.00008
|
NM_001029883.3(PCARE):c.1432G>A (p.Ala478Thr)
|
rs201444022
|
0.00008
|
NM_001029883.3(PCARE):c.634C>T (p.Arg212Trp)
|
rs368688827
|
0.00008
|
NM_001080.3(ALDH5A1):c.*1139C>G
|
rs933728436
|
0.00008
|
NM_001080.3(ALDH5A1):c.*970C>T
|
rs886061273
|
0.00008
|
NM_001081.4(CUBN):c.10576G>A (p.Gly3526Ser)
|
rs200330356
|
0.00008
|
NM_001081.4(CUBN):c.10838G>A (p.Arg3613His)
|
rs148626202
|
0.00008
|
NM_001081.4(CUBN):c.1234A>G (p.Thr412Ala)
|
rs748933632
|
0.00008
|
NM_001081.4(CUBN):c.2446+11A>G
|
rs372125740
|
0.00008
|
NM_001081.4(CUBN):c.4216G>A (p.Gly1406Arg)
|
rs771763775
|
0.00008
|
NM_001081.4(CUBN):c.5073C>G (p.Pro1691=)
|
rs200977290
|
0.00008
|
NM_001081.4(CUBN):c.6613G>A (p.Gly2205Arg)
|
rs140883483
|
0.00008
|
NM_001081.4(CUBN):c.7455G>A (p.Pro2485=)
|
rs144942741
|
0.00008
|
NM_001127222.2(CACNA1A):c.3634G>T (p.Asp1212Tyr)
|
rs201269793
|
0.00008
|
NM_001127222.2(CACNA1A):c.6527G>T (p.Gly2176Val)
|
rs763045560
|
0.00008
|
NM_001142800.2(EYS):c.1107C>T (p.Ser369=)
|
rs755023434
|
0.00008
|
NM_001142800.2(EYS):c.1600-10G>A
|
rs111746102
|
0.00008
|
NM_001142800.2(EYS):c.2259C>T (p.Leu753=)
|
rs781359405
|
0.00008
|
NM_001142800.2(EYS):c.4864G>A (p.Ala1622Thr)
|
rs533075374
|
0.00008
|
NM_001142800.2(EYS):c.6510C>T (p.Asn2170=)
|
rs756110037
|
0.00008
|
NM_001142800.2(EYS):c.865C>G (p.Pro289Ala)
|
rs772145998
|
0.00008
|
NM_001142800.2(EYS):c.8860T>C (p.Phe2954Leu)
|
rs79036642
|
0.00008
|
NM_001142800.2(EYS):c.8999T>C (p.Ile3000Thr)
|
rs778823043
|
0.00008
|
NM_001201543.2(FAM161A):c.*795G>A
|
rs866844878
|
0.00008
|
NM_001201543.2(FAM161A):c.598A>G (p.Asn200Asp)
|
rs372038495
|
0.00008
|
NM_001242957.3(MAK):c.647T>C (p.Leu216Ser)
|
rs182178532
|
0.00008
|
NM_001297.5(CNGB1):c.1589C>G (p.Pro530Arg)
|
rs201553871
|
0.00008
|
NM_001352514.2(HLCS):c.*1085G>A
|
rs531457233
|
0.00008
|
NM_001352514.2(HLCS):c.601G>C (p.Glu201Gln)
|
rs373822815
|
0.00008
|
NM_001354768.3(NRL):c.407C>T (p.Ala136Val)
|
rs375075312
|
0.00008
|
NM_001370658.1(BTD):c.986A>C (p.Asn329Thr)
|
rs200327983
|
0.00008
|
NM_001609.4(ACADSB):c.*2060G>A
|
rs886046795
|
0.00008
|
NM_001609.4(ACADSB):c.1213C>T (p.Arg405Ter)
|
rs200154326
|
0.00008
|
NM_001609.4(ACADSB):c.202G>T (p.Val68Phe)
|
rs144894218
|
0.00008
|
NM_001875.5(CPS1):c.528+9A>G
|
rs369476447
|
0.00008
|
NM_001918.5(DBT):c.*3245G>A
|
rs1266134285
|
0.00008
|
NM_001918.5(DBT):c.*7469T>C
|
rs897269544
|
0.00008
|
NM_002150.3(HPD):c.356G>A (p.Arg119Gln)
|
rs149180825
|
0.00008
|
NM_002454.3(MTRR):c.1676+3A>G
|
rs369853875
|
0.00008
|
NM_002860.4(ALDH18A1):c.868G>A (p.Gly290Arg)
|
rs368147360
|
0.00008
|
NM_002900.3(RBP3):c.*180T>C
|
rs886047014
|
0.00008
|
NM_002900.3(RBP3):c.1384C>T (p.Arg462Cys)
|
rs551138498
|
0.00008
|
NM_002900.3(RBP3):c.1647G>A (p.Ala549=)
|
rs146715054
|
0.00008
|
NM_002900.3(RBP3):c.2063C>T (p.Ala688Val)
|
rs200168559
|
0.00008
|
NM_003060.4(SLC22A5):c.1568A>G (p.Gln523Arg)
|
rs28383482
|
0.00008
|
NM_003060.4(SLC22A5):c.1586G>T (p.Gly529Val)
|
rs201307440
|
0.00008
|
NM_003322.6(TULP1):c.*305G>A
|
rs149035389
|
0.00008
|
NM_003611.3(OFD1):c.2584T>G (p.Ser862Ala)
|
rs797045846
|
0.00008
|
NM_003748.4(ALDH4A1):c.*719C>T
|
rs778905588
|
0.00008
|
NM_003748.4(ALDH4A1):c.1381G>A (p.Asp461Asn)
|
rs377270740
|
0.00008
|
NM_003982.4(SLC7A7):c.123C>T (p.Asn41=)
|
rs367673752
|
0.00008
|
NM_003982.4(SLC7A7):c.250G>A (p.Val84Ile)
|
rs368317123
|
0.00008
|
NM_004170.6(SLC1A1):c.519C>T (p.Ser173=)
|
rs183300590
|
0.00008
|
NM_004183.4(BEST1):c.1054G>A (p.Ala352Thr)
|
rs147409760
|
0.00008
|
NM_005148.4(UNC119):c.*265G>A
|
rs886052764
|
0.00008
|
NM_005148.4(UNC119):c.*378G>A
|
rs1005163473
|
0.00008
|
NM_005271.5(GLUD1):c.*998C>T
|
rs766730554
|
0.00008
|
NM_005327.7(HADH):c.*305T>A
|
rs3822294
|
0.00008
|
NM_005327.7(HADH):c.240G>A (p.Lys80=)
|
rs748623569
|
0.00008
|
NM_005334.3(HCFC1):c.3495G>C (p.Gln1165His)
|
rs373327413
|
0.00008
|
NM_005802.5(TOPORS):c.360A>G (p.Leu120=)
|
rs147302494
|
0.00008
|
NM_006269.2(RP1):c.21T>G (p.Thr7=)
|
rs377126381
|
0.00008
|
NM_006623.3(PHGDH):c.-183G>A
|
rs886045202
|
0.00008
|
NM_006623.4(PHGDH):c.181G>A (p.Ala61Thr)
|
rs140185619
|
0.00008
|
NM_006859.4(LIAS):c.637A>G (p.Thr213Ala)
|
rs374709255
|
0.00008
|
NM_006899.5(IDH3B):c.*203T>C
|
rs546467756
|
0.00008
|
NM_006915.3(RP2):c.613G>A (p.Glu205Lys)
|
rs138731990
|
0.00008
|
NM_012213.3(MLYCD):c.446G>A (p.Gly149Asp)
|
rs773196234
|
0.00008
|
NM_012213.3(MLYCD):c.763G>A (p.Val255Met)
|
rs377566911
|
0.00008
|
NM_012463.4(ATP6V0A2):c.*2454T>C
|
rs776825961
|
0.00008
|
NM_012463.4(ATP6V0A2):c.776G>A (p.Arg259Gln)
|
rs377561982
|
0.00008
|
NM_012469.4(PRPF6):c.-53C>T
|
rs977850122
|
0.00008
|
NM_014014.5(SNRNP200):c.6093-6C>T
|
rs202243080
|
0.00008
|
NM_014249.4(NR2E3):c.844G>A (p.Glu282Lys)
|
rs370215891
|
0.00008
|
NM_014249.4(NR2E3):c.859G>A (p.Gly287Ser)
|
rs764901119
|
0.00008
|
NM_014251.3(SLC25A13):c.848G>A (p.Gly283Glu)
|
rs544756381
|
0.00008
|
NM_014252.4(SLC25A15):c.-101C>G
|
rs886050239
|
0.00008
|
NM_014336.5(AIPL1):c.377T>A (p.Met126Lys)
|
rs761622978
|
0.00008
|
NM_014362.4(HIBCH):c.238G>C (p.Glu80Gln)
|
rs200185893
|
0.00008
|
NM_014384.3(ACAD8):c.*266T>A
|
rs762508631
|
0.00008
|
NM_014384.3(ACAD8):c.841+9C>T
|
rs777635296
|
0.00008
|
NM_014714.4(IFT140):c.1646C>T (p.Ser549Phe)
|
rs751137317
|
0.00008
|
NM_014714.4(IFT140):c.2407G>A (p.Val803Ile)
|
rs538791217
|
0.00008
|
NM_014714.4(IFT140):c.2543G>A (p.Arg848His)
|
rs746743309
|
0.00008
|
NM_015629.4(PRPF31):c.1239C>T (p.Asn413=)
|
rs371720691
|
0.00008
|
NM_015629.4(PRPF31):c.594C>T (p.Asn198=)
|
rs138269127
|
0.00008
|
NM_015629.4(PRPF31):c.935C>T (p.Thr312Ile)
|
rs144322132
|
0.00008
|
NM_015662.3(IFT172):c.1331G>A (p.Arg444His)
|
rs751965696
|
0.00008
|
NM_015662.3(IFT172):c.1829G>A (p.Arg610Gln)
|
rs144890293
|
0.00008
|
NM_015662.3(IFT172):c.1983T>A (p.His661Gln)
|
rs150739354
|
0.00008
|
NM_016247.4(IMPG2):c.1728C>G (p.Val576=)
|
rs556074974
|
0.00008
|
NM_016247.4(IMPG2):c.3503C>G (p.Ala1168Gly)
|
rs201519517
|
0.00008
|
NM_018368.4(LMBRD1):c.802G>A (p.Ala268Thr)
|
rs143758103
|
0.00008
|
NM_018706.7(DHTKD1):c.1326C>G (p.Phe442Leu)
|
rs781444343
|
0.00008
|
NM_020208.4(SLC6A20):c.354+2T>A
|
rs531515127
|
0.00008
|
NM_020686.6(ABAT):c.*959T>A
|
rs750089237
|
0.00008
|
NM_025136.4(OPA3):c.*3644C>T
|
rs914226398
|
0.00008
|
NM_025136.4(OPA3):c.*4521G>A
|
rs886054521
|
0.00008
|
NM_025136.4(OPA3):c.*5873C>T
|
rs886054509
|
0.00008
|
NM_031885.5(BBS2):c.1381G>A (p.Val461Met)
|
rs377000980
|
0.00008
|
NM_032601.4(MCEE):c.345C>A (p.Asn115Lys)
|
rs548542949
|
0.00008
|
NM_032861.4(SERAC1):c.418A>G (p.Ser140Gly)
|
rs370340688
|
0.00008
|
NM_033100.4(CDHR1):c.1206C>T (p.Pro402=)
|
rs149181127
|
0.00008
|
NM_033100.4(CDHR1):c.2027T>A (p.Ile676Asn)
|
rs186486854
|
0.00008
|
NM_052845.4(MMAB):c.584+15G>A
|
rs750655720
|
0.00008
|
NM_052845.4(MMAB):c.644+7G>A
|
rs147637814
|
0.00008
|
NM_052845.4(MMAB):c.91C>T (p.Arg31Cys)
|
rs142447736
|
0.00008
|
NM_054012.4(ASS1):c.1056C>T (p.Ser352=)
|
rs766889925
|
0.00008
|
NM_054012.4(ASS1):c.773C>T (p.Ala258Val)
|
rs753078725
|
0.00008
|
NM_144596.4(TTC8):c.267C>A (p.Arg89=)
|
rs200113889
|
0.00008
|
NM_144596.4(TTC8):c.905A>G (p.Tyr302Cys)
|
rs370111364
|
0.00008
|
NM_144631.6(ZNF513):c.1601G>A (p.Arg534Gln)
|
rs149397849
|
0.00008
|
NM_152419.3(HGSNAT):c.1145C>G (p.Ser382Cys)
|
rs201735532
|
0.00008
|
NM_153006.3(NAGS):c.722T>C (p.Val241Ala)
|
rs201142696
|
0.00008
|
NM_172250.3(MMAA):c.1078C>T (p.Arg360Trp)
|
rs6812252
|
0.00008
|
NM_177550.5(SLC13A5):c.862G>A (p.Gly288Arg)
|
rs761215437
|
0.00008
|
NM_177550.5(SLC13A5):c.931C>T (p.Pro311Ser)
|
rs201678684
|
0.00008
|
NM_183050.4(BCKDHB):c.*569G>A
|
rs1000319023
|
0.00008
|
NM_183050.4(BCKDHB):c.*644C>T
|
rs535962304
|
0.00008
|
NM_205861.3(DHDDS):c.*1705G>A
|
rs1057515508
|
0.00008
|
NM_205861.3(DHDDS):c.*433T>C
|
rs180690900
|
0.00008
|
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val)
|
rs111033524
|
0.00008
|
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys)
|
rs368049814
|
0.00008
|
NM_206933.4(USH2A):c.13406A>G (p.Asn4469Ser)
|
rs796610671
|
0.00008
|
NM_206933.4(USH2A):c.14101G>A (p.Glu4701Lys)
|
rs372966682
|
0.00008
|
NM_206933.4(USH2A):c.3801G>A (p.Ala1267=)
|
rs537863698
|
0.00008
|
NM_206933.4(USH2A):c.5318T>A (p.Ile1773Lys)
|
rs371201450
|
0.00008
|
NM_206933.4(USH2A):c.7787A>G (p.Tyr2596Cys)
|
rs371685066
|
0.00008
|
NM_206933.4(USH2A):c.8096G>A (p.Arg2699Gln)
|
rs748137104
|
0.00008
|
NM_212552.3(BOLA3):c.256C>G (p.Gln86Glu)
|
rs149964046
|
0.00008
|
NM_000017.4(ACADS):c.327C>T (p.Cys109=)
|
rs144083614
|
0.00007
|
NM_000018.4(ACADVL):c.205-7T>C
|
rs760625298
|
0.00007
|
NM_000018.4(ACADVL):c.205-8C>G
|
rs774353448
|
0.00007
|
NM_000019.4(ACAT1):c.1198C>T (p.His400Tyr)
|
rs201183545
|
0.00007
|
NM_000019.4(ACAT1):c.239-8T>A
|
rs202030208
|
0.00007
|
NM_000045.4(ARG1):c.665+4G>A
|
rs371976737
|
0.00007
|
NM_000045.4(ARG1):c.746T>C (p.Val249Ala)
|
rs755779260
|
0.00007
|
NM_000071.3(CBS):c.888G>A (p.Thr296=)
|
rs769593715
|
0.00007
|
NM_000108.5(DLD):c.*1505C>T
|
rs1053262850
|
0.00007
|
NM_000116.5(TAFAZZIN):c.*618A>G
|
rs781924638
|
0.00007
|
NM_000156.6(GAMT):c.314G>A (p.Arg105Gln)
|
rs148838075
|
0.00007
|
NM_000156.6(GAMT):c.396C>A (p.Ile132=)
|
rs200500835
|
0.00007
|
NM_000159.4(GCDH):c.1147C>T (p.Arg383Cys)
|
rs150938052
|
0.00007
|
NM_000159.4(GCDH):c.829C>T (p.Leu277Phe)
|
rs371654188
|
0.00007
|
NM_000161.3(GCH1):c.297C>T (p.Ala99=)
|
rs776450369
|
0.00007
|
NM_000170.3(GLDC):c.1732A>C (p.Asn578His)
|
rs770315107
|
0.00007
|
NM_000170.3(GLDC):c.2446G>A (p.Ala816Thr)
|
rs775834004
|
0.00007
|
NM_000170.3(GLDC):c.578A>G (p.Asn193Ser)
|
rs555919940
|
0.00007
|
NM_000182.5(HADHA):c.1515G>A (p.Lys505=)
|
rs543680661
|
0.00007
|
NM_000182.5(HADHA):c.1637A>G (p.Tyr546Cys)
|
rs370170143
|
0.00007
|
NM_000182.5(HADHA):c.1789A>G (p.Lys597Glu)
|
rs368455378
|
0.00007
|
NM_000182.5(HADHA):c.2000+9G>A
|
rs200802583
|
0.00007
|
NM_000191.3(HMGCL):c.244G>A (p.Val82Ile)
|
rs538620811
|
0.00007
|
NM_000254.3(MTR):c.2474-3T>A
|
rs771491872
|
0.00007
|
NM_000255.4(MMUT):c.1963C>T (p.Arg655Cys)
|
rs541001298
|
0.00007
|
NM_000277.3(PAH):c.*144A>G
|
rs375319584
|
0.00007
|
NM_000283.4(PDE6B):c.787A>G (p.Thr263Ala)
|
rs761281062
|
0.00007
|
NM_000320.3(QDPR):c.274G>A (p.Gly92Arg)
|
rs757963200
|
0.00007
|
NM_000320.3(QDPR):c.563C>T (p.Pro188Leu)
|
rs374458448
|
0.00007
|
NM_000329.3(RPE65):c.676G>A (p.Val226Ile)
|
rs750099371
|
0.00007
|
NM_000329.3(RPE65):c.95-10T>A
|
rs547374432
|
0.00007
|
NM_000341.4(SLC3A1):c.247C>T (p.Arg83Cys)
|
rs148946634
|
0.00007
|
NM_000353.3(TAT):c.1281G>A (p.Met427Ile)
|
rs201364717
|
0.00007
|
NM_000360.4(TH):c.1024C>T (p.Arg342Cys)
|
rs555810288
|
0.00007
|
NM_000360.4(TH):c.167C>T (p.Ala56Val)
|
rs745974715
|
0.00007
|
NM_000360.4(TH):c.23C>T (p.Thr8Met)
|
rs373964946
|
0.00007
|
NM_000360.4(TH):c.252G>A (p.Leu84=)
|
rs758016812
|
0.00007
|
NM_000360.4(TH):c.645C>T (p.His215=)
|
rs768037080
|
0.00007
|
NM_000481.4(AMT):c.159G>A (p.Ala53=)
|
rs201080782
|
0.00007
|
NM_000481.4(AMT):c.713C>T (p.Ala238Val)
|
rs199985521
|
0.00007
|
NM_000532.5(PCCB):c.8C>T (p.Ala3Val)
|
rs373685372
|
0.00007
|
NM_000541.5(SAG):c.682G>A (p.Val228Met)
|
rs377019945
|
0.00007
|
NM_000541.5(SAG):c.944+5G>A
|
rs374048703
|
0.00007
|
NM_000554.6(CRX):c.565G>A (p.Ala189Thr)
|
rs142111462
|
0.00007
|
NM_000666.3(ACY1):c.325A>G (p.Arg109Gly)
|
rs139537461
|
0.00007
|
NM_000687.4(AHCY):c.769T>C (p.Tyr257His)
|
rs140810436
|
0.00007
|
NM_000687.4(AHCY):c.979C>T (p.Arg327Trp)
|
rs144383493
|
0.00007
|
NM_000709.4(BCKDHA):c.*384C>T
|
rs535473868
|
0.00007
|
NM_001010867.4(IBA57):c.748A>G (p.Met250Val)
|
rs370640121
|
0.00007
|
NM_001010898.4(SLC6A17):c.824G>A (p.Arg275Gln)
|
rs147200498
|
0.00007
|
NM_001012720.2(RGR):c.745-13T>C
|
rs760426665
|
0.00007
|
NM_001031710.3(KLHL7):c.-215T>A
|
rs886062216
|
0.00007
|
NM_001031710.3(KLHL7):c.513G>A (p.Gln171=)
|
rs750816527
|
0.00007
|
NM_001080.3(ALDH5A1):c.*1658C>T
|
rs775036676
|
0.00007
|
NM_001080.3(ALDH5A1):c.764A>G (p.Asn255Ser)
|
rs145087265
|
0.00007
|
NM_001081.4(CUBN):c.10028C>T (p.Pro3343Leu)
|
rs150358307
|
0.00007
|
NM_001081.4(CUBN):c.1715A>T (p.His572Leu)
|
rs368231433
|
0.00007
|
NM_001081.4(CUBN):c.4129C>T (p.Arg1377Cys)
|
rs763563422
|
0.00007
|
NM_001081.4(CUBN):c.5397T>C (p.Arg1799=)
|
rs147772422
|
0.00007
|
NM_001081.4(CUBN):c.5794G>C (p.Glu1932Gln)
|
rs749462295
|
0.00007
|
NM_001081.4(CUBN):c.7797C>T (p.Cys2599=)
|
rs138758085
|
0.00007
|
NM_001081.4(CUBN):c.7990C>G (p.Gln2664Glu)
|
rs575118918
|
0.00007
|
NM_001081.4(CUBN):c.8301A>G (p.Ser2767=)
|
rs377258631
|
0.00007
|
NM_001081.4(CUBN):c.8891C>G (p.Ser2964Cys)
|
rs148348845
|
0.00007
|
NM_001127222.2(CACNA1A):c.2257G>A (p.Ala753Thr)
|
rs17846944
|
0.00007
|
NM_001127222.2(CACNA1A):c.3048C>G (p.Asp1016Glu)
|
rs773821155
|
0.00007
|
NM_001142800.2(EYS):c.1218G>T (p.Glu406Asp)
|
rs201331309
|
0.00007
|
NM_001142800.2(EYS):c.5189G>A (p.Gly1730Glu)
|
rs927928681
|
0.00007
|
NM_001142800.2(EYS):c.7171G>A (p.Gly2391Arg)
|
rs751746614
|
0.00007
|
NM_001142800.2(EYS):c.7811G>A (p.Arg2604His)
|
rs368798160
|
0.00007
|
NM_001142800.2(EYS):c.9108T>A (p.Asn3036Lys)
|
rs937362206
|
0.00007
|
NM_001201543.2(FAM161A):c.*523G>A
|
rs897022105
|
0.00007
|
NM_001201543.2(FAM161A):c.1219A>G (p.Arg407Gly)
|
rs576715893
|
0.00007
|
NM_001201543.2(FAM161A):c.86A>G (p.Gln29Arg)
|
rs763794474
|
0.00007
|
NM_001243279.3(ACSF3):c.130G>A (p.Ala44Thr)
|
rs759448696
|
0.00007
|
NM_001243279.3(ACSF3):c.392C>T (p.Ala131Val)
|
rs148768970
|
0.00007
|
NM_001252024.2(TRPM1):c.1414C>T (p.Arg472Trp)
|
rs371853965
|
0.00007
|
NM_001258392.3(CLPB):c.370G>T (p.Val124Phe)
|
rs139361195
|
0.00007
|
NM_001258392.3(CLPB):c.610A>G (p.Lys204Glu)
|
rs538184539
|
0.00007
|
NM_001271.4(CHD2):c.4984C>T (p.His1662Tyr)
|
rs146275216
|
0.00007
|
NM_001297.5(CNGB1):c.2862C>T (p.Tyr954=)
|
rs763416913
|
0.00007
|
NM_001352514.2(HLCS):c.*2416C>T
|
rs566088233
|
0.00007
|
NM_001352514.2(HLCS):c.2500G>A (p.Val834Ile)
|
rs145648338
|
0.00007
|
NM_001354768.3(NRL):c.*301A>T
|
rs1019002721
|
0.00007
|
NM_001370658.1(BTD):c.-65G>T
|
rs199516128
|
0.00007
|
NM_001379270.1(CNGA1):c.705A>G (p.Lys235=)
|
rs368137821
|
0.00007
|
NM_001482.3(GATM):c.1041C>T (p.Asp347=)
|
rs139599307
|
0.00007
|
NM_001605.3(AARS1):c.1001A>T (p.Tyr334Phe)
|
rs527414180
|
0.00007
|
NM_001609.4(ACADSB):c.*1865C>T
|
rs1389294187
|
0.00007
|
NM_001739.2(CA5A):c.629C>T (p.Ala210Val)
|
rs377314096
|
0.00007
|
NM_001875.5(CPS1):c.167T>G (p.Met56Arg)
|
rs778958318
|
0.00007
|
NM_001876.4(CPT1A):c.525G>A (p.Pro175=)
|
rs371805329
|
0.00007
|
NM_001902.5(CTH):c.-151T>C
|
rs767468686
|
0.00007
|
NM_001918.5(DBT):c.*8074G>A
|
rs550751216
|
0.00007
|
NM_001985.3(ETFB):c.761G>A (p.Arg254Gln)
|
rs145173884
|
0.00007
|
NM_002108.4(HAL):c.1329C>G (p.Asn443Lys)
|
rs150083495
|
0.00007
|
NM_002150.3(HPD):c.*65A>G
|
rs931600760
|
0.00007
|
NM_002150.3(HPD):c.815A>G (p.Glu272Gly)
|
rs375083142
|
0.00007
|
NM_002454.3(MTRR):c.1120C>T (p.Leu374Phe)
|
rs372106115
|
0.00007
|
NM_002454.3(MTRR):c.1998A>C (p.Gln666His)
|
rs767507060
|
0.00007
|
NM_002454.3(MTRR):c.21A>G (p.Leu7=)
|
rs114427781
|
0.00007
|
NM_002860.4(ALDH18A1):c.-5G>A
|
rs371024575
|
0.00007
|
NM_002860.4(ALDH18A1):c.1604T>A (p.Leu535Gln)
|
rs200452017
|
0.00007
|
NM_002860.4(ALDH18A1):c.2110+13A>G
|
rs375782465
|
0.00007
|
NM_002860.4(ALDH18A1):c.973G>A (p.Val325Ile)
|
rs192770256
|
0.00007
|
NM_002900.3(RBP3):c.2503G>A (p.Gly835Ser)
|
rs782480179
|
0.00007
|
NM_003060.4(SLC22A5):c.1373T>C (p.Val458Ala)
|
rs753268767
|
0.00007
|
NM_003060.4(SLC22A5):c.415G>A (p.Asp139Asn)
|
rs577131769
|
0.00007
|
NM_003060.4(SLC22A5):c.761G>A (p.Arg254Gln)
|
rs200699819
|
0.00007
|
NM_003060.4(SLC22A5):c.875A>T (p.Glu292Val)
|
rs371692440
|
0.00007
|
NM_003124.5(SPR):c.706G>A (p.Val236Met)
|
rs371904378
|
0.00007
|
NM_003748.4(ALDH4A1):c.490G>C (p.Ala164Pro)
|
rs369957092
|
0.00007
|
NM_004170.6(SLC1A1):c.768-4C>G
|
rs368368579
|
0.00007
|
NM_004453.4(ETFDH):c.1733G>A (p.Arg578Gln)
|
rs200290334
|
0.00007
|
NM_004453.4(ETFDH):c.424G>A (p.Val142Ile)
|
rs146982178
|
0.00007
|
NM_004577.4(PSPH):c.-130G>T
|
rs529188025
|
0.00007
|
NM_004577.4(PSPH):c.129G>A (p.Ala43=)
|
rs548513131
|
0.00007
|
NM_004744.5(LRAT):c.*1120C>T
|
rs745651761
|
0.00007
|
NM_004744.5(LRAT):c.*81T>C
|
rs763149722
|
0.00007
|
NM_004744.5(LRAT):c.80C>G (p.Ser27Trp)
|
rs141705269
|
0.00007
|
NM_004937.3(CTNS):c.*2377G>A
|
rs543014932
|
0.00007
|
NM_004937.3(CTNS):c.-20+13T>C
|
rs780032861
|
0.00007
|
NM_005050.4(ABCD4):c.425+6C>T
|
rs368213518
|
0.00007
|
NM_005518.4(HMGCS2):c.275G>A (p.Arg92His)
|
rs144921290
|
0.00007
|
NM_005518.4(HMGCS2):c.790C>T (p.Arg264Trp)
|
rs773945291
|
0.00007
|
NM_005589.4(ALDH6A1):c.*1534G>A
|
rs1047039253
|
0.00007
|
NM_005802.5(TOPORS):c.*309G>A
|
rs531812368
|
0.00007
|
NM_005802.5(TOPORS):c.*640T>A
|
rs753971890
|
0.00007
|
NM_005881.4(BCKDK):c.851C>T (p.Thr284Ile)
|
rs371078966
|
0.00007
|
NM_006017.3(PROM1):c.1576C>T (p.Arg526Trp)
|
rs201870277
|
0.00007
|
NM_006017.3(PROM1):c.717C>T (p.Gly239=)
|
rs763697898
|
0.00007
|
NM_006269.2(RP1):c.1726G>A (p.Val576Met)
|
rs201008674
|
0.00007
|
NM_006269.2(RP1):c.3532G>T (p.Asp1178Tyr)
|
rs147384119
|
0.00007
|
NM_006623.4(PHGDH):c.910G>A (p.Val304Met)
|
rs149175408
|
0.00007
|
NM_006915.3(RP2):c.650A>G (p.Asn217Ser)
|
rs781878275
|
0.00007
|
NM_012418.4(FSCN2):c.1025G>A (p.Arg342Gln)
|
rs374441539
|
0.00007
|
NM_014014.5(SNRNP200):c.4943G>A (p.Arg1648Gln)
|
rs200426430
|
0.00007
|
NM_014049.5(ACAD9):c.1309G>A (p.Ala437Thr)
|
rs370266841
|
0.00007
|
NM_014049.5(ACAD9):c.1664G>A (p.Arg555His)
|
rs200134546
|
0.00007
|
NM_014251.3(SLC25A13):c.1393G>T (p.Gly465Cys)
|
rs372216502
|
0.00007
|
NM_014251.3(SLC25A13):c.6G>T (p.Ala2=)
|
rs774562949
|
0.00007
|
NM_014252.3(SLC25A15):c.-304C>G
|
rs886050236
|
0.00007
|
NM_014336.5(AIPL1):c.*147A>C
|
rs886053267
|
0.00007
|
NM_014336.5(AIPL1):c.*280G>A
|
rs886053261
|
0.00007
|
NM_014384.3(ACAD8):c.455T>C (p.Met152Thr)
|
rs121908418
|
0.00007
|
NM_014714.4(IFT140):c.1376G>C (p.Trp459Ser)
|
rs778311141
|
0.00007
|
NM_014714.4(IFT140):c.2079G>C (p.Leu693Phe)
|
rs137966471
|
0.00007
|
NM_014714.4(IFT140):c.2786C>T (p.Thr929Met)
|
rs757585192
|
0.00007
|
NM_014714.4(IFT140):c.4318C>T (p.Arg1440Cys)
|
rs758535401
|
0.00007
|
NM_015629.4(PRPF31):c.177+4A>T
|
rs368136864
|
0.00007
|
NM_015662.3(IFT172):c.2668G>A (p.Ala890Thr)
|
rs202216329
|
0.00007
|
NM_015662.3(IFT172):c.623A>G (p.Asn208Ser)
|
rs771817287
|
0.00007
|
NM_016247.4(IMPG2):c.2700G>A (p.Val900=)
|
rs200353662
|
0.00007
|
NM_016335.6(PRODH):c.392G>A (p.Arg131Gln)
|
rs145456430
|
0.00007
|
NM_016579.4(CD320):c.277C>T (p.Pro93Ser)
|
rs377236965
|
0.00007
|
NM_018418.5(SPATA7):c.1216-4C>T
|
rs755958987
|
0.00007
|
NM_018418.5(SPATA7):c.937G>A (p.Ala313Thr)
|
rs143812944
|
0.00007
|
NM_018706.7(DHTKD1):c.1671+3G>A
|
rs369606311
|
0.00007
|
NM_018706.7(DHTKD1):c.718-5A>G
|
rs374421488
|
0.00007
|
NM_019098.5(CNGB3):c.1672G>T (p.Gly558Cys)
|
rs749413012
|
0.00007
|
NM_020166.5(MCCC1):c.1303G>A (p.Ala435Thr)
|
rs142507365
|
0.00007
|
NM_020686.6(ABAT):c.*2300G>A
|
rs886052445
|
0.00007
|
NM_020686.6(ABAT):c.1430C>T (p.Thr477Met)
|
rs778305265
|
0.00007
|
NM_020686.6(ABAT):c.864C>T (p.Ala288=)
|
rs149855547
|
0.00007
|
NM_020686.6(ABAT):c.929G>A (p.Arg310Gln)
|
rs778974775
|
0.00007
|
NM_022367.4(SEMA4A):c.1991C>T (p.Pro664Leu)
|
rs200251591
|
0.00007
|
NM_022367.4(SEMA4A):c.494C>T (p.Ser165Leu)
|
rs201943133
|
0.00007
|
NM_025136.4(OPA3):c.*6361G>A
|
rs1020767023
|
0.00007
|
NM_025136.4(OPA3):c.*821A>T
|
rs886054536
|
0.00007
|
NM_033100.4(CDHR1):c.1554-3C>A
|
rs377416569
|
0.00007
|
NM_052845.4(MMAB):c.14G>A (p.Gly5Asp)
|
rs769048646
|
0.00007
|
NM_052845.4(MMAB):c.401C>T (p.Ser134Leu)
|
rs138708209
|
0.00007
|
NM_052845.4(MMAB):c.521C>T (p.Ser174Leu)
|
rs140881518
|
0.00007
|
NM_052845.4(MMAB):c.79C>T (p.Leu27Phe)
|
rs150895111
|
0.00007
|
NM_054012.4(ASS1):c.174+10G>A
|
rs371597908
|
0.00007
|
NM_054012.4(ASS1):c.805G>A (p.Val269Met)
|
rs370595480
|
0.00007
|
NM_144596.4(TTC8):c.308G>T (p.Gly103Val)
|
rs140710339
|
0.00007
|
NM_144631.6(ZNF513):c.-51C>T
|
rs770982327
|
0.00007
|
NM_144631.6(ZNF513):c.619C>T (p.Arg207Cys)
|
rs140620118
|
0.00007
|
NM_145261.4(DNAJC19):c.*488G>C
|
rs576646391
|
0.00007
|
NM_153006.3(NAGS):c.1171C>G (p.Leu391Val)
|
rs537949245
|
0.00007
|
NM_172250.3(MMAA):c.977G>A (p.Arg326His)
|
rs201547892
|
0.00007
|
NM_177550.5(SLC13A5):c.1442G>A (p.Arg481His)
|
rs762789388
|
0.00007
|
NM_183050.4(BCKDHB):c.*2224T>A
|
rs1037438345
|
0.00007
|
NM_201253.2(CRB1):c.-195G>A
|
rs886045782
|
0.00007
|
NM_201253.3(CRB1):c.2894G>A (p.Ser965Asn)
|
rs1006177908
|
0.00007
|
NM_201548.5(CERKL):c.1127A>C (p.Gln376Pro)
|
rs746220721
|
0.00007
|
NM_205861.3(DHDDS):c.*620C>T
|
rs1057515470
|
0.00007
|
NM_205861.3(DHDDS):c.874G>A (p.Ala292Thr)
|
rs376234168
|
0.00007
|
NM_206933.4(USH2A):c.15356G>A (p.Arg5119Gln)
|
rs201630132
|
0.00007
|
NM_206933.4(USH2A):c.1556A>G (p.Gln519Arg)
|
rs199672621
|
0.00007
|
NM_206933.4(USH2A):c.191G>A (p.Ser64Asn)
|
rs778199517
|
0.00007
|
NM_206933.4(USH2A):c.3045C>G (p.His1015Gln)
|
rs541918040
|
0.00007
|
NM_206933.4(USH2A):c.6929C>T (p.Thr2310Met)
|
rs151057466
|
0.00007
|
NM_206933.4(USH2A):c.7061G>A (p.Arg2354His)
|
rs201386640
|
0.00007
|
NM_206933.4(USH2A):c.9922G>A (p.Gly3308Ser)
|
rs752811693
|
0.00007
|
NC_000022.11:g.40345639T>C
|
rs528540026
|
0.00006
|
NC_000022.11:g.40345994G>C
|
rs1032678851
|
0.00006
|
NM_000016.6(ACADM):c.1022C>G (p.Ala341Gly)
|
rs768440594
|
0.00006
|
NM_000016.6(ACADM):c.1247T>C (p.Ile416Thr)
|
rs760892123
|
0.00006
|
NM_000016.6(ACADM):c.1265A>T (p.Ter422Leu)
|
rs200376609
|
0.00006
|
NM_000016.6(ACADM):c.131A>G (p.Gln44Arg)
|
rs751647383
|
0.00006
|
NM_000016.6(ACADM):c.582C>T (p.Asn194=)
|
rs778535261
|
0.00006
|
NM_000017.4(ACADS):c.1192C>T (p.Gln398Ter)
|
rs767774362
|
0.00006
|
NM_000017.4(ACADS):c.250G>A (p.Val84Met)
|
rs751283667
|
0.00006
|
NM_000017.4(ACADS):c.40C>G (p.Arg14Gly)
|
rs542140065
|
0.00006
|
NM_000017.4(ACADS):c.575C>T (p.Ala192Val)
|
rs28940874
|
0.00006
|
NM_000017.4(ACADS):c.624+11C>T
|
rs763811046
|
0.00006
|
NM_000017.4(ACADS):c.668C>T (p.Thr223Met)
|
rs143131689
|
0.00006
|
NM_000017.4(ACADS):c.814C>T (p.Arg272Cys)
|
rs539219309
|
0.00006
|
NM_000018.4(ACADVL):c.1434G>A (p.Met478Ile)
|
rs775537775
|
0.00006
|
NM_000018.4(ACADVL):c.583A>G (p.Lys195Glu)
|
rs199763196
|
0.00006
|
NM_000018.4(ACADVL):c.62+18G>A
|
rs780776419
|
0.00006
|
NM_000018.4(ACADVL):c.686G>A (p.Arg229Gln)
|
rs777955007
|
0.00006
|
NM_000018.4(ACADVL):c.947G>A (p.Arg316Gln)
|
rs147366714
|
0.00006
|
NM_000019.3(ACAT1):c.*384A>C
|
rs916588276
|
0.00006
|
NM_000019.4(ACAT1):c.-5C>T
|
rs747790910
|
0.00006
|
NM_000019.4(ACAT1):c.1221C>T (p.Tyr407=)
|
rs367713788
|
0.00006
|
NM_000019.4(ACAT1):c.85G>T (p.Val29Leu)
|
rs764142914
|
0.00006
|
NM_000019.4(ACAT1):c.891G>A (p.Thr297=)
|
rs372169445
|
0.00006
|
NM_000026.4(ADSL):c.1016T>A (p.Ile339Asn)
|
rs772974251
|
0.00006
|
NM_000026.4(ADSL):c.32A>T (p.Asp11Val)
|
rs368501116
|
0.00006
|
NM_000026.4(ADSL):c.792+6T>C
|
rs768892416
|
0.00006
|
NM_000026.4(ADSL):c.856C>G (p.Gln286Glu)
|
rs376912453
|
0.00006
|
NM_000026.4(ADSL):c.925C>T (p.Arg309Cys)
|
rs376357524
|
0.00006
|
NM_000048.4(ASL):c.1045G>A (p.Val349Ile)
|
rs372774556
|
0.00006
|
NM_000048.4(ASL):c.401G>A (p.Gly134Asp)
|
rs201352504
|
0.00006
|
NM_000071.3(CBS):c.1039+3G>A
|
rs747384273
|
0.00006
|
NM_000071.3(CBS):c.1067T>C (p.Val356Ala)
|
rs370163789
|
0.00006
|
NM_000071.3(CBS):c.1161C>T (p.Ser387=)
|
rs149280976
|
0.00006
|
NM_000071.3(CBS):c.1315C>T (p.Arg439Trp)
|
rs780508029
|
0.00006
|
NM_000071.3(CBS):c.1379C>T (p.Thr460Met)
|
rs752596508
|
0.00006
|
NM_000071.3(CBS):c.1411G>A (p.Gly471Arg)
|
rs201098477
|
0.00006
|
NM_000071.3(CBS):c.1425G>A (p.Pro475=)
|
rs147885808
|
0.00006
|
NM_000071.3(CBS):c.1472G>A (p.Arg491His)
|
rs747419767
|
0.00006
|
NM_000071.3(CBS):c.1525G>A (p.Ala509Thr)
|
rs1060500680
|
0.00006
|
NM_000071.3(CBS):c.352G>A (p.Val118Met)
|
rs763385546
|
0.00006
|
NM_000071.3(CBS):c.610G>A (p.Val204Met)
|
rs372679328
|
0.00006
|
NM_000071.3(CBS):c.65A>G (p.His22Arg)
|
rs763151207
|
0.00006
|
NM_000071.3(CBS):c.786G>A (p.Thr262=)
|
rs551782391
|
0.00006
|
NM_000108.5(DLD):c.1492A>C (p.Asn498His)
|
rs564889609
|
0.00006
|
NM_000108.5(DLD):c.508G>A (p.Gly170Ser)
|
rs567286177
|
0.00006
|
NM_000116.5(TAFAZZIN):c.751C>T (p.Arg251Trp)
|
rs372689133
|
0.00006
|
NM_000137.4(FAH):c.*138G>A
|
rs374613273
|
0.00006
|
NM_000137.4(FAH):c.302A>G (p.Glu101Gly)
|
rs758347578
|
0.00006
|
NM_000156.6(GAMT):c.313C>T (p.Arg105Trp)
|
rs757909053
|
0.00006
|
NM_000156.6(GAMT):c.670G>A (p.Ala224Thr)
|
rs141471799
|
0.00006
|
NM_000159.4(GCDH):c.885C>T (p.Tyr295=)
|
rs139192015
|
0.00006
|
NM_000161.3(GCH1):c.*1010C>T
|
rs764569623
|
0.00006
|
NM_000161.3(GCH1):c.*1257C>T
|
rs763425111
|
0.00006
|
NM_000161.3(GCH1):c.*367G>A
|
rs886050548
|
0.00006
|
NM_000161.3(GCH1):c.-125A>C
|
rs886050554
|
0.00006
|
NM_000161.3(GCH1):c.582G>A (p.Thr194=)
|
rs199836777
|
0.00006
|
NM_000170.3(GLDC):c.1121G>A (p.Arg374Lys)
|
rs141065026
|
0.00006
|
NM_000170.3(GLDC):c.1940C>T (p.Pro647Leu)
|
rs201135624
|
0.00006
|
NM_000170.3(GLDC):c.2028C>T (p.Ile676=)
|
rs372604935
|
0.00006
|
NM_000170.3(GLDC):c.258C>T (p.Ser86=)
|
rs562000292
|
0.00006
|
NM_000170.3(GLDC):c.2612A>G (p.Lys871Arg)
|
rs766244892
|
0.00006
|
NM_000170.3(GLDC):c.2810G>A (p.Arg937His)
|
rs151100082
|
0.00006
|
NM_000170.3(GLDC):c.2919C>T (p.Leu973=)
|
rs113736090
|
0.00006
|
NM_000170.3(GLDC):c.632A>G (p.Tyr211Cys)
|
rs139931025
|
0.00006
|
NM_000170.3(GLDC):c.78G>C (p.Ser26=)
|
rs915226152
|
0.00006
|
NM_000170.3(GLDC):c.960T>G (p.Phe320Leu)
|
rs771868469
|
0.00006
|
NM_000182.5(HADHA):c.*403C>T
|
rs146210168
|
0.00006
|
NM_000182.5(HADHA):c.975+6C>T
|
rs766717752
|
0.00006
|
NM_000187.4(HGD):c.-19C>T
|
rs376849236
|
0.00006
|
NM_000187.4(HGD):c.550-14G>C
|
rs769000073
|
0.00006
|
NM_000187.4(HGD):c.794T>C (p.Val265Ala)
|
rs554816026
|
0.00006
|
NM_000191.3(HMGCL):c.*414G>A
|
rs886046310
|
0.00006
|
NM_000191.3(HMGCL):c.151G>A (p.Val51Ile)
|
rs142942001
|
0.00006
|
NM_000191.3(HMGCL):c.594C>T (p.Tyr198=)
|
rs139799938
|
0.00006
|
NM_000191.3(HMGCL):c.853del (p.Met284_Leu285insTer)
|
rs779339230
|
0.00006
|
NM_000240.4(MAOA):c.109G>A (p.Val37Ile)
|
rs779299641
|
0.00006
|
NM_000254.3(MTR):c.1310C>A (p.Ser437Tyr)
|
rs368619885
|
0.00006
|
NM_000254.3(MTR):c.2861C>T (p.Thr954Met)
|
rs146931200
|
0.00006
|
NM_000254.3(MTR):c.3188A>G (p.Tyr1063Cys)
|
rs769801712
|
0.00006
|
NM_000254.3(MTR):c.55C>T (p.Arg19Trp)
|
rs376681897
|
0.00006
|
NM_000254.3(MTR):c.901C>G (p.Pro301Ala)
|
rs766371534
|
0.00006
|
NM_000255.4(MMUT):c.*281G>A
|
rs144168425
|
0.00006
|
NM_000255.4(MMUT):c.277C>T (p.Arg93Cys)
|
rs746274670
|
0.00006
|
NM_000255.4(MMUT):c.912G>A (p.Arg304=)
|
rs201311681
|
0.00006
|
NM_000274.4(OAT):c.*35C>T
|
rs750628344
|
0.00006
|
NM_000276.4(OCRL):c.2138A>G (p.Lys713Arg)
|
rs148646884
|
0.00006
|
NM_000277.3(PAH):c.222A>G (p.Lys74=)
|
rs374797155
|
0.00006
|
NM_000277.3(PAH):c.438C>T (p.His146=)
|
rs191142120
|
0.00006
|
NM_000282.4(PCCA):c.522G>A (p.Met174Ile)
|
rs780406346
|
0.00006
|
NM_000283.3(PDE6B):c.*764G>A
|
rs575639886
|
0.00006
|
NM_000283.4(PDE6B):c.*611G>A
|
rs1374125665
|
0.00006
|
NM_000283.4(PDE6B):c.1506C>T (p.Tyr502=)
|
rs750323428
|
0.00006
|
NM_000283.4(PDE6B):c.2098T>A (p.Ser700Thr)
|
rs149880099
|
0.00006
|
NM_000283.4(PDE6B):c.344C>T (p.Pro115Leu)
|
rs189172362
|
0.00006
|
NM_000283.4(PDE6B):c.59G>A (p.Arg20His)
|
rs781251175
|
0.00006
|
NM_000283.4(PDE6B):c.682C>A (p.Leu228Ile)
|
rs201584824
|
0.00006
|
NM_000283.4(PDE6B):c.699G>A (p.Thr233=)
|
rs148264146
|
0.00006
|
NM_000320.3(QDPR):c.199-10T>G
|
rs200393206
|
0.00006
|
NM_000320.3(QDPR):c.7G>A (p.Ala3Thr)
|
rs769620717
|
0.00006
|
NM_000322.5(PRPH2):c.1008C>T (p.Gly336=)
|
rs752365478
|
0.00006
|
NM_000326.5(RLBP1):c.107C>T (p.Pro36Leu)
|
rs200143313
|
0.00006
|
NM_000327.4(ROM1):c.*109G>A
|
rs757950484
|
0.00006
|
NM_000327.4(ROM1):c.950A>G (p.Asp317Gly)
|
rs199827702
|
0.00006
|
NM_000329.3(RPE65):c.1195G>A (p.Glu399Lys)
|
rs144673747
|
0.00006
|
NM_000329.3(RPE65):c.1238G>A (p.Arg413His)
|
rs200950327
|
0.00006
|
NM_000341.4(SLC3A1):c.-16C>T
|
rs372603963
|
0.00006
|
NM_000341.4(SLC3A1):c.1084C>T (p.Arg362Cys)
|
rs375399468
|
0.00006
|
NM_000341.4(SLC3A1):c.1613T>C (p.Val538Ala)
|
rs772556641
|
0.00006
|
NM_000341.4(SLC3A1):c.313A>G (p.Ile105Val)
|
rs200093674
|
0.00006
|
NM_000350.3(ABCA4):c.2576A>G (p.Gln859Arg)
|
rs140281495
|
0.00006
|
NM_000350.3(ABCA4):c.4715C>T (p.Thr1572Met)
|
rs185093512
|
0.00006
|
NM_000353.3(TAT):c.1090C>T (p.Arg364Trp)
|
rs371975183
|
0.00006
|
NM_000353.3(TAT):c.231C>A (p.Ser77=)
|
rs562235592
|
0.00006
|
NM_000353.3(TAT):c.548T>C (p.Val183Ala)
|
rs770033832
|
0.00006
|
NM_000353.3(TAT):c.759+5G>A
|
rs767912599
|
0.00006
|
NM_000360.4(TH):c.*54C>T
|
rs1008333072
|
0.00006
|
NM_000360.4(TH):c.104T>C (p.Ile35Thr)
|
rs747420332
|
0.00006
|
NM_000360.4(TH):c.1228C>A (p.Arg410=)
|
rs575326605
|
0.00006
|
NM_000360.4(TH):c.13G>A (p.Asp5Asn)
|
rs777016570
|
0.00006
|
NM_000360.4(TH):c.263C>T (p.Pro88Leu)
|
rs150260759
|
0.00006
|
NM_000360.4(TH):c.394G>A (p.Val132Met)
|
rs751702426
|
0.00006
|
NM_000360.4(TH):c.550G>A (p.Asp184Asn)
|
rs139807727
|
0.00006
|
NM_000360.4(TH):c.674C>A (p.Thr225Asn)
|
rs141907589
|
0.00006
|
NM_000372.5(TYR):c.892C>T (p.Arg298Trp)
|
rs200854796
|
0.00006
|
NM_000387.6(SLC25A20):c.88C>G (p.Pro30Ala)
|
rs780569251
|
0.00006
|
NM_000440.3(PDE6A):c.*1867A>T
|
rs971352928
|
0.00006
|
NM_000440.3(PDE6A):c.*522T>G
|
rs941850883
|
0.00006
|
NM_000440.3(PDE6A):c.2275-1G>A
|
rs1428612396
|
0.00006
|
NM_000481.4(AMT):c.13G>T (p.Val5Leu)
|
rs764032357
|
0.00006
|
NM_000481.4(AMT):c.401A>G (p.Asn134Ser)
|
rs776832405
|
0.00006
|
NM_000481.4(AMT):c.555C>T (p.Pro185=)
|
rs144790394
|
0.00006
|
NM_000481.4(AMT):c.91-9C>T
|
rs761235679
|
0.00006
|
NM_000485.3(APRT):c.216C>A (p.Gly72=)
|
rs377050219
|
0.00006
|
NM_000485.3(APRT):c.316G>A (p.Gly106Arg)
|
rs780098835
|
0.00006
|
NM_000485.3(APRT):c.364A>C (p.Arg122=)
|
rs35095508
|
0.00006
|
NM_000532.5(PCCB):c.554C>T (p.Thr185Met)
|
rs369612150
|
0.00006
|
NM_000532.5(PCCB):c.641C>T (p.Thr214Met)
|
rs375740942
|
0.00006
|
NM_000532.5(PCCB):c.707A>G (p.Asn236Ser)
|
rs778955184
|
0.00006
|
NM_000532.5(PCCB):c.744G>C (p.Lys248Asn)
|
rs757845027
|
0.00006
|
NM_000532.5(PCCB):c.818A>T (p.Asp273Val)
|
rs765749691
|
0.00006
|
NM_000539.3(RHO):c.*551G>A
|
rs933661466
|
0.00006
|
NM_000541.5(SAG):c.468C>T (p.Phe156=)
|
rs375593027
|
0.00006
|
NM_000541.5(SAG):c.838A>G (p.Lys280Glu)
|
rs373986650
|
0.00006
|
NM_000554.6(CRX):c.*16T>C
|
rs371964860
|
0.00006
|
NM_000554.6(CRX):c.590C>T (p.Pro197Leu)
|
rs761290111
|
0.00006
|
NM_000666.3(ACY1):c.1133G>A (p.Arg378Gln)
|
rs150480963
|
0.00006
|
NM_000709.4(BCKDHA):c.1167+4A>C
|
rs546655391
|
0.00006
|
NM_000836.4(GRIN2D):c.2888G>A (p.Arg963His)
|
rs964725459
|
0.00006
|
NM_000836.4(GRIN2D):c.3888G>C (p.Arg1296Ser)
|
rs375048004
|
0.00006
|
NM_000883.4(IMPDH1):c.443C>T (p.Thr148Met)
|
rs150278198
|
0.00006
|
NM_001003841.3(SLC6A19):c.1522G>A (p.Val508Met)
|
rs771770693
|
0.00006
|
NM_001003841.3(SLC6A19):c.1603C>T (p.Arg535Cys)
|
rs370093464
|
0.00006
|
NM_001003841.3(SLC6A19):c.688C>T (p.Pro230Ser)
|
rs141497538
|
0.00006
|
NM_001003841.3(SLC6A19):c.697G>A (p.Val233Ile)
|
rs183474162
|
0.00006
|
NM_001010867.4(IBA57):c.679+3A>G
|
rs754620334
|
0.00006
|
NM_001024845.3(SLC6A9):c.1424T>C (p.Met475Thr)
|
rs141601886
|
0.00006
|
NM_001024845.3(SLC6A9):c.1835C>T (p.Pro612Leu)
|
rs373799403
|
0.00006
|
NM_001029883.3(PCARE):c.*3040C>T
|
rs747798677
|
0.00006
|
NM_001029883.3(PCARE):c.*34C>A
|
rs745626992
|
0.00006
|
NM_001029883.3(PCARE):c.*857C>T
|
rs538810981
|
0.00006
|
NM_001029883.3(PCARE):c.*874G>A
|
rs886055917
|
0.00006
|
NM_001029883.3(PCARE):c.1024G>A (p.Gly342Ser)
|
rs748520550
|
0.00006
|
NM_001029883.3(PCARE):c.1215C>T (p.Gly405=)
|
rs754808908
|
0.00006
|
NM_001029883.3(PCARE):c.1775C>T (p.Thr592Met)
|
rs202166083
|
0.00006
|
NM_001077620.3(PRCD):c.75-3C>G
|
rs200091367
|
0.00006
|
NM_001080.3(ALDH5A1):c.1285A>T (p.Thr429Ser)
|
rs1283096489
|
0.00006
|
NM_001080.3(ALDH5A1):c.525C>T (p.Tyr175=)
|
rs372455508
|
0.00006
|
NM_001080.3(ALDH5A1):c.652G>A (p.Ala218Thr)
|
rs772998296
|
0.00006
|
NM_001081.4(CUBN):c.*298G>A
|
rs529415832
|
0.00006
|
NM_001081.4(CUBN):c.*416G>A
|
rs886046856
|
0.00006
|
NM_001081.4(CUBN):c.165G>A (p.Thr55=)
|
rs370127775
|
0.00006
|
NM_001081.4(CUBN):c.2120G>A (p.Arg707His)
|
rs763524933
|
0.00006
|
NM_001081.4(CUBN):c.2610A>G (p.Glu870=)
|
rs143471343
|
0.00006
|
NM_001081.4(CUBN):c.348+10A>G
|
rs373954000
|
0.00006
|
NM_001081.4(CUBN):c.6187C>T (p.Arg2063Trp)
|
rs781180388
|
0.00006
|
NM_001081.4(CUBN):c.7106G>T (p.Gly2369Val)
|
rs200593316
|
0.00006
|
NM_001081.4(CUBN):c.735C>T (p.Cys245=)
|
rs766772944
|
0.00006
|
NM_001081.4(CUBN):c.8056T>C (p.Phe2686Leu)
|
rs755819982
|
0.00006
|
NM_001081.4(CUBN):c.879A>G (p.Pro293=)
|
rs142466038
|
0.00006
|
NM_001081.4(CUBN):c.9298G>A (p.Asp3100Asn)
|
rs202189846
|
0.00006
|
NM_001102564.3(IFT43):c.459C>A (p.Asp153Glu)
|
rs778799892
|
0.00006
|
NM_001102564.3(IFT43):c.517G>A (p.Gly173Ser)
|
rs554856028
|
0.00006
|
NM_001127222.2(CACNA1A):c.6077A>G (p.Glu2026Gly)
|
rs771768635
|
0.00006
|
NM_001127222.2(CACNA1A):c.6190-3C>A
|
rs368480650
|
0.00006
|
NM_001142800.2(EYS):c.-272T>C
|
rs747914953
|
0.00006
|
NM_001142800.2(EYS):c.-332-10C>T
|
rs868706829
|
0.00006
|
NM_001142800.2(EYS):c.1950G>A (p.Ala650=)
|
rs565864295
|
0.00006
|
NM_001142800.2(EYS):c.1952C>T (p.Ser651Phe)
|
rs940468386
|
0.00006
|
NM_001142800.2(EYS):c.2738+13T>C
|
rs886061682
|
0.00006
|
NM_001142800.2(EYS):c.2890G>A (p.Glu964Lys)
|
rs886061681
|
0.00006
|
NM_001142800.2(EYS):c.2953_2961del (p.Thr985_Gly987del)
|
rs756068592
|
0.00006
|
NM_001142800.2(EYS):c.3454G>A (p.Gly1152Arg)
|
rs371491059
|
0.00006
|
NM_001142800.2(EYS):c.4046G>A (p.Arg1349Gln)
|
rs368698537
|
0.00006
|
NM_001142800.2(EYS):c.5140A>C (p.Thr1714Pro)
|
rs201916371
|
0.00006
|
NM_001142800.2(EYS):c.6536T>C (p.Ile2179Thr)
|
rs924836478
|
0.00006
|
NM_001142800.2(EYS):c.7117G>A (p.Ala2373Thr)
|
rs372512515
|
0.00006
|
NM_001142800.2(EYS):c.9392G>C (p.Gly3131Ala)
|
rs772888249
|
0.00006
|
NM_001201543.2(FAM161A):c.686G>A (p.Arg229Gln)
|
rs746372822
|
0.00006
|
NM_001201543.2(FAM161A):c.704C>A (p.Thr235Lys)
|
rs199759978
|
0.00006
|
NM_001243279.3(ACSF3):c.943G>A (p.Asp315Asn)
|
rs774006607
|
0.00006
|
NM_001258392.3(CLPB):c.1247G>T (p.Cys416Phe)
|
rs559592563
|
0.00006
|
NM_001258392.3(CLPB):c.1978C>T (p.Arg660Cys)
|
rs140963713
|
0.00006
|
NM_001258392.3(CLPB):c.844A>G (p.Met282Val)
|
rs773028492
|
0.00006
|
NM_001271.4(CHD2):c.4814A>C (p.Lys1605Thr)
|
rs780701076
|
0.00006
|
NM_001271.4(CHD2):c.553A>G (p.Thr185Ala)
|
rs1442904433
|
0.00006
|
NM_001271.4(CHD2):c.584C>T (p.Pro195Leu)
|
rs1381374225
|
0.00006
|
NM_001278064.2(GRM1):c.827A>C (p.Lys276Thr)
|
rs192397712
|
0.00006
|
NM_001278293.3(ARL6):c.365G>A (p.Arg122Gln)
|
rs142258123
|
0.00006
|
NM_001297.5(CNGB1):c.2098C>T (p.Leu700Phe)
|
rs181974243
|
0.00006
|
NM_001297.5(CNGB1):c.2634+6G>A
|
rs374018113
|
0.00006
|
NM_001297.5(CNGB1):c.2958C>T (p.Asn986=)
|
rs543509332
|
0.00006
|
NM_001297.5(CNGB1):c.2978G>A (p.Gly993Glu)
|
rs121918532
|
0.00006
|
NM_001297.5(CNGB1):c.976G>C (p.Gly326Arg)
|
rs763165985
|
0.00006
|
NM_001352514.2(HLCS):c.*168G>T
|
rs118099059
|
0.00006
|
NM_001352514.2(HLCS):c.*3253C>T
|
rs529403596
|
0.00006
|
NM_001352514.2(HLCS):c.1278G>A (p.Glu426=)
|
rs548505968
|
0.00006
|
NM_001352514.2(HLCS):c.2352C>T (p.Ile784=)
|
rs150263699
|
0.00006
|
NM_001352514.2(HLCS):c.988C>T (p.Arg330Trp)
|
rs150431185
|
0.00006
|
NM_001367823.1(ARHGEF18):c.1469G>T (p.Arg490Leu)
|
rs960519789
|
0.00006
|
NM_001370658.1(BTD):c.1225G>A (p.Glu409Lys)
|
rs770633850
|
0.00006
|
NM_001378615.1(CC2D2A):c.932A>G (p.Asp311Gly)
|
rs375247004
|
0.00006
|
NM_001379270.1(CNGA1):c.1768A>G (p.Met590Val)
|
rs375049806
|
0.00006
|
NM_001379270.1(CNGA1):c.503T>G (p.Ile168Ser)
|
rs373448145
|
0.00006
|
NM_001482.3(GATM):c.277A>G (p.Ile93Val)
|
rs34991226
|
0.00006
|
NM_001609.4(ACADSB):c.*2548G>T
|
rs545467732
|
0.00006
|
NM_001609.4(ACADSB):c.*2581A>C
|
rs779662230
|
0.00006
|
NM_001609.4(ACADSB):c.1015G>A (p.Val339Met)
|
rs150034487
|
0.00006
|
NM_001698.3(AUH):c.1004G>A (p.Arg335His)
|
rs529693736
|
0.00006
|
NM_001739.2(CA5A):c.253G>T (p.Val85Phe)
|
rs138938647
|
0.00006
|
NM_001739.2(CA5A):c.543C>T (p.Gly181=)
|
rs534860826
|
0.00006
|
NM_001739.2(CA5A):c.763G>A (p.Ala255Thr)
|
rs756854770
|
0.00006
|
NM_001875.5(CPS1):c.1478C>T (p.Thr493Ile)
|
rs199878637
|
0.00006
|
NM_001875.5(CPS1):c.1627G>A (p.Ala543Thr)
|
rs142369181
|
0.00006
|
NM_001875.5(CPS1):c.2845G>A (p.Ala949Thr)
|
rs537170841
|
0.00006
|
NM_001875.5(CPS1):c.3682C>T (p.Arg1228Trp)
|
rs367595060
|
0.00006
|
NM_001875.5(CPS1):c.4173G>A (p.Thr1391=)
|
rs201710257
|
0.00006
|
NM_001876.4(CPT1A):c.1436C>T (p.Pro479Leu)
|
rs80356779
|
0.00006
|
NM_001876.4(CPT1A):c.1496C>T (p.Ala499Val)
|
rs753866589
|
0.00006
|
NM_001876.4(CPT1A):c.176C>T (p.Pro59Leu)
|
rs201762212
|
0.00006
|
NM_001876.4(CPT1A):c.598A>G (p.Lys200Glu)
|
rs201425412
|
0.00006
|
NM_001902.6(CTH):c.*545C>T
|
rs886046516
|
0.00006
|
NM_001902.6(CTH):c.*631C>T
|
rs559469669
|
0.00006
|
NM_001902.6(CTH):c.589-3C>T
|
rs201568449
|
0.00006
|
NM_001918.5(DBT):c.*1747A>G
|
rs886044958
|
0.00006
|
NM_001918.5(DBT):c.*3455C>T
|
rs886044949
|
0.00006
|
NM_001918.5(DBT):c.*551C>T
|
rs756147809
|
0.00006
|
NM_001918.5(DBT):c.*5784T>C
|
rs187688215
|
0.00006
|
NM_001918.5(DBT):c.*8734A>C
|
rs564195699
|
0.00006
|
NM_001918.5(DBT):c.1127G>A (p.Arg376His)
|
rs150934375
|
0.00006
|
NM_001918.5(DBT):c.1281+5A>G
|
rs199571242
|
0.00006
|
NM_001985.3(ETFB):c.118C>A (p.Pro40Thr)
|
rs772322071
|
0.00006
|
NM_001985.3(ETFB):c.184A>G (p.Ile62Val)
|
rs199705168
|
0.00006
|
NM_001985.3(ETFB):c.706G>A (p.Gly236Ser)
|
rs375326450
|
0.00006
|
NM_002108.4(HAL):c.*976T>G
|
rs762280245
|
0.00006
|
NM_002108.4(HAL):c.1076G>A (p.Arg359His)
|
rs181887143
|
0.00006
|
NM_002108.4(HAL):c.1428T>G (p.Asn476Lys)
|
rs759917804
|
0.00006
|
NM_002108.4(HAL):c.181C>T (p.Leu61=)
|
rs139361462
|
0.00006
|
NM_002108.4(HAL):c.276C>T (p.Asp92=)
|
rs151299220
|
0.00006
|
NM_002108.4(HAL):c.429G>A (p.Glu143=)
|
rs138613169
|
0.00006
|
NM_002108.4(HAL):c.484+1G>A
|
rs746735988
|
0.00006
|
NM_002225.5(IVD):c.490A>G (p.Met164Val)
|
rs574434706
|
0.00006
|
NM_002225.5(IVD):c.784+13G>A
|
rs369694967
|
0.00006
|
NM_002454.3(MTRR):c.1246T>C (p.Phe416Leu)
|
rs769915505
|
0.00006
|
NM_002454.3(MTRR):c.1537G>A (p.Gly513Arg)
|
rs150411351
|
0.00006
|
NM_002454.3(MTRR):c.383A>G (p.His128Arg)
|
rs185235284
|
0.00006
|
NM_002454.3(MTRR):c.952C>T (p.Pro318Ser)
|
rs375421492
|
0.00006
|
NM_002860.4(ALDH18A1):c.*293G>A
|
rs913851343
|
0.00006
|
NM_002860.4(ALDH18A1):c.-140G>A
|
rs931860076
|
0.00006
|
NM_002860.4(ALDH18A1):c.1596C>T (p.Ala532=)
|
rs200730342
|
0.00006
|
NM_002860.4(ALDH18A1):c.1631A>G (p.Asp544Gly)
|
rs372744264
|
0.00006
|
NM_002860.4(ALDH18A1):c.1867G>A (p.Asp623Asn)
|
rs770815414
|
0.00006
|
NM_002860.4(ALDH18A1):c.2335A>G (p.Ser779Gly)
|
rs143874727
|
0.00006
|
NM_002900.3(RBP3):c.2556C>T (p.Ala852=)
|
rs375422843
|
0.00006
|
NM_002900.3(RBP3):c.844G>A (p.Val282Met)
|
rs782095820
|
0.00006
|
NM_003042.4(SLC6A1):c.1436G>A (p.Arg479Gln)
|
rs771439149
|
0.00006
|
NM_003042.4(SLC6A1):c.830G>A (p.Arg277His)
|
rs752396911
|
0.00006
|
NM_003060.4(SLC22A5):c.770G>A (p.Arg257Gln)
|
rs148989838
|
0.00006
|
NM_003124.5(SPR):c.*400C>T
|
rs886056289
|
0.00006
|
NM_003124.5(SPR):c.328G>C (p.Gly110Arg)
|
rs201651366
|
0.00006
|
NM_003322.6(TULP1):c.296A>G (p.Lys99Arg)
|
rs145518705
|
0.00006
|
NM_003748.4(ALDH4A1):c.*1182G>C
|
rs956296596
|
0.00006
|
NM_003748.4(ALDH4A1):c.*223G>A
|
rs553318512
|
0.00006
|
NM_003748.4(ALDH4A1):c.*900G>C
|
rs796989099
|
0.00006
|
NM_003748.4(ALDH4A1):c.1082G>C (p.Trp361Ser)
|
rs763793413
|
0.00006
|
NM_003748.4(ALDH4A1):c.178C>T (p.Arg60Trp)
|
rs139447728
|
0.00006
|
NM_003748.4(ALDH4A1):c.67C>T (p.Arg23Trp)
|
rs778225599
|
0.00006
|
NM_003982.4(SLC7A7):c.*225G>A
|
rs555934632
|
0.00006
|
NM_003982.4(SLC7A7):c.-73G>A
|
rs886050407
|
0.00006
|
NM_003982.4(SLC7A7):c.1170G>C (p.Trp390Cys)
|
rs370847983
|
0.00006
|
NM_004113.6(FGF12):c.88A>G (p.Thr30Ala)
|
rs142373936
|
0.00006
|
NM_004170.6(SLC1A1):c.*1100T>C
|
rs886063976
|
0.00006
|
NM_004170.6(SLC1A1):c.*614T>C
|
rs886063970
|
0.00006
|
NM_004170.6(SLC1A1):c.1398C>T (p.Ser466=)
|
rs141295405
|
0.00006
|
NM_004170.6(SLC1A1):c.807G>A (p.Lys269=)
|
rs142234531
|
0.00006
|
NM_004171.4(SLC1A2):c.344G>A (p.Arg115His)
|
rs200754925
|
0.00006
|
NM_004172.5(SLC1A3):c.*516T>C
|
rs971147962
|
0.00006
|
NM_004172.5(SLC1A3):c.1284A>C (p.Thr428=)
|
rs200947079
|
0.00006
|
NM_004172.5(SLC1A3):c.1496G>A (p.Arg499Gln)
|
rs138085358
|
0.00006
|
NM_004183.4(BEST1):c.602T>C (p.Ile201Thr)
|
rs199529046
|
0.00006
|
NM_004408.4(DNM1):c.796C>T (p.Arg266Cys)
|
rs138053929
|
0.00006
|
NM_004453.4(ETFDH):c.1019T>A (p.Phe340Tyr)
|
rs1131691336
|
0.00006
|
NM_004453.4(ETFDH):c.1744A>C (p.Asn582His)
|
rs757842479
|
0.00006
|
NM_004577.4(PSPH):c.*278C>T
|
rs183424432
|
0.00006
|
NM_004577.4(PSPH):c.-145-15A>G
|
rs552907219
|
0.00006
|
NM_004744.5(LRAT):c.*106T>C
|
rs189439579
|
0.00006
|
NM_004744.5(LRAT):c.*1585T>G
|
rs886059168
|
0.00006
|
NM_004937.3(CTNS):c.*1336G>A
|
rs541263497
|
0.00006
|
NM_004937.3(CTNS):c.*1874G>A
|
rs886052880
|
0.00006
|
NM_004937.3(CTNS):c.830C>T (p.Thr277Met)
|
rs757009591
|
0.00006
|
NM_005148.4(UNC119):c.-44A>G
|
rs886052767
|
0.00006
|
NM_005148.4(UNC119):c.321G>A (p.Lys107=)
|
rs543041170
|
0.00006
|
NM_005271.5(GLUD1):c.1279-6G>A
|
rs374548261
|
0.00006
|
NM_005271.5(GLUD1):c.1500A>G (p.Ala500=)
|
rs756259685
|
0.00006
|
NM_005271.5(GLUD1):c.1652A>G (p.Asn551Ser)
|
rs373705613
|
0.00006
|
NM_005327.7(HADH):c.*335C>A
|
rs780532720
|
0.00006
|
NM_005327.7(HADH):c.361G>A (p.Val121Met)
|
rs377615662
|
0.00006
|
NM_005518.4(HMGCS2):c.1420+13T>C
|
rs771878586
|
0.00006
|
NM_005518.4(HMGCS2):c.364G>A (p.Asp122Asn)
|
rs368014391
|
0.00006
|
NM_005518.4(HMGCS2):c.803G>A (p.Arg268Gln)
|
rs371306326
|
0.00006
|
NM_005589.4(ALDH6A1):c.*377C>A
|
rs886050729
|
0.00006
|
NM_005589.4(ALDH6A1):c.*558A>G
|
rs1050633882
|
0.00006
|
NM_005802.5(TOPORS):c.*47A>G
|
rs778217226
|
0.00006
|
NM_005802.5(TOPORS):c.671A>G (p.Asp224Gly)
|
rs147071021
|
0.00006
|
NM_005881.4(BCKDK):c.373G>A (p.Val125Met)
|
rs141282419
|
0.00006
|
NM_005881.4(BCKDK):c.556G>A (p.Val186Ile)
|
rs188092823
|
0.00006
|
NM_005957.5(MTHFR):c.853G>A (p.Glu285Lys)
|
rs372258648
|
0.00006
|
NM_006017.3(PROM1):c.*580T>A
|
rs1250583925
|
0.00006
|
NM_006017.3(PROM1):c.277-15C>T
|
rs372599685
|
0.00006
|
NM_006269.2(RP1):c.1595A>G (p.Glu532Gly)
|
rs371028735
|
0.00006
|
NM_006269.2(RP1):c.3399C>G (p.Leu1133=)
|
rs746723674
|
0.00006
|
NM_006269.2(RP1):c.4642A>T (p.Ser1548Cys)
|
rs941588545
|
0.00006
|
NM_006269.2(RP1):c.4856A>G (p.Gln1619Arg)
|
rs113911625
|
0.00006
|
NM_006269.2(RP1):c.4932A>G (p.Pro1644=)
|
rs111445591
|
0.00006
|
NM_006269.2(RP1):c.5123C>T (p.Ala1708Val)
|
rs373678545
|
0.00006
|
NM_006343.3(MERTK):c.207G>C (p.Gln69His)
|
rs200120223
|
0.00006
|
NM_006343.3(MERTK):c.472G>A (p.Ala158Thr)
|
rs780214104
|
0.00006
|
NM_006343.3(MERTK):c.710G>A (p.Arg237His)
|
rs199707021
|
0.00006
|
NM_006445.4(PRPF8):c.*11G>T
|
rs767915818
|
0.00006
|
NM_006445.4(PRPF8):c.5794-3C>G
|
rs776617795
|
0.00006
|
NM_006445.4(PRPF8):c.6511-3T>C
|
rs199665387
|
0.00006
|
NM_006623.3(PHGDH):c.-207G>A
|
rs150128831
|
0.00006
|
NM_006623.4(PHGDH):c.*28G>A
|
rs753765228
|
0.00006
|
NM_006623.4(PHGDH):c.1255G>A (p.Gly419Arg)
|
rs145344767
|
0.00006
|
NM_006623.4(PHGDH):c.706C>T (p.Arg236Cys)
|
rs147066269
|
0.00006
|
NM_006623.4(PHGDH):c.739C>T (p.Arg247Trp)
|
rs768347730
|
0.00006
|
NM_006623.4(PHGDH):c.809G>A (p.Arg270Gln)
|
rs375031910
|
0.00006
|
NM_006721.4(ADK):c.66-23885T>A
|
rs370191448
|
0.00006
|
NM_006721.4(ADK):c.66-23966T>C
|
rs886047235
|
0.00006
|
NM_006859.4(LIAS):c.108G>T (p.Lys36Asn)
|
rs199942447
|
0.00006
|
NM_006859.4(LIAS):c.751C>T (p.Pro251Ser)
|
rs146513468
|
0.00006
|
NM_006859.4(LIAS):c.80C>T (p.Pro27Leu)
|
rs369125654
|
0.00006
|
NM_006899.5(IDH3B):c.1132G>A (p.Gly378Ser)
|
rs376112899
|
0.00006
|
NM_012213.3(MLYCD):c.*591G>A
|
rs764367632
|
0.00006
|
NM_012213.3(MLYCD):c.1097T>A (p.Ile366Asn)
|
rs376504760
|
0.00006
|
NM_012213.3(MLYCD):c.1174C>T (p.Arg392Trp)
|
rs530627828
|
0.00006
|
NM_012213.3(MLYCD):c.1295G>A (p.Arg432His)
|
rs201973830
|
0.00006
|
NM_012213.3(MLYCD):c.592G>A (p.Glu198Lys)
|
rs201780465
|
0.00006
|
NM_012213.3(MLYCD):c.901G>C (p.Val301Leu)
|
rs199656023
|
0.00006
|
NM_012463.4(ATP6V0A2):c.*1252A>G
|
rs141136421
|
0.00006
|
NM_012463.4(ATP6V0A2):c.*1799A>C
|
rs755729836
|
0.00006
|
NM_012463.4(ATP6V0A2):c.1112G>A (p.Arg371His)
|
rs199698721
|
0.00006
|
NM_012463.4(ATP6V0A2):c.2327G>A (p.Arg776His)
|
rs758922111
|
0.00006
|
NM_012463.4(ATP6V0A2):c.2333G>T (p.Gly778Val)
|
rs762614200
|
0.00006
|
NM_012463.4(ATP6V0A2):c.603C>T (p.Ile201=)
|
rs181112338
|
0.00006
|
NM_012469.4(PRPF6):c.2688G>T (p.Glu896Asp)
|
rs140112205
|
0.00006
|
NM_012469.4(PRPF6):c.616-7C>T
|
rs368728762
|
0.00006
|
NM_014014.5(SNRNP200):c.1485G>A (p.Thr495=)
|
rs142142479
|
0.00006
|
NM_014049.5(ACAD9):c.693C>T (p.Val231=)
|
rs778831368
|
0.00006
|
NM_014049.5(ACAD9):c.91C>T (p.Arg31Cys)
|
rs368630371
|
0.00006
|
NM_014249.4(NR2E3):c.119-8C>T
|
rs373874970
|
0.00006
|
NM_014249.4(NR2E3):c.410C>T (p.Ser137Phe)
|
rs767828150
|
0.00006
|
NM_014249.4(NR2E3):c.645C>T (p.Cys215=)
|
rs375133059
|
0.00006
|
NM_014249.4(NR2E3):c.953C>T (p.Thr318Met)
|
rs755224888
|
0.00006
|
NM_014251.3(SLC25A13):c.*280G>T
|
rs1427739478
|
0.00006
|
NM_014251.3(SLC25A13):c.790G>A (p.Val264Ile)
|
rs531991442
|
0.00006
|
NM_014252.4(SLC25A15):c.*1562G>A
|
rs1205190482
|
0.00006
|
NM_014252.4(SLC25A15):c.*640C>T
|
rs763688411
|
0.00006
|
NM_014252.4(SLC25A15):c.380C>T (p.Thr127Met)
|
rs201902280
|
0.00006
|
NM_014252.4(SLC25A15):c.678G>A (p.Ala226=)
|
rs183697658
|
0.00006
|
NM_014270.5(SLC7A9):c.44C>T (p.Ser15Leu)
|
rs148435870
|
0.00006
|
NM_014270.5(SLC7A9):c.671C>T (p.Ala224Val)
|
rs140873167
|
0.00006
|
NM_014336.5(AIPL1):c.*1288C>T
|
rs553220927
|
0.00006
|
NM_014336.5(AIPL1):c.305G>A (p.Arg102Gln)
|
rs181630986
|
0.00006
|
NM_014336.5(AIPL1):c.562C>T (p.Leu188Phe)
|
rs146153236
|
0.00006
|
NM_014336.5(AIPL1):c.658G>A (p.Val220Met)
|
rs751994982
|
0.00006
|
NM_014384.3(ACAD8):c.*238G>C
|
rs886048026
|
0.00006
|
NM_014384.3(ACAD8):c.1154A>G (p.Gln385Arg)
|
rs367996531
|
0.00006
|
NM_014384.3(ACAD8):c.207G>A (p.Gln69=)
|
rs199868020
|
0.00006
|
NM_014384.3(ACAD8):c.985G>A (p.Ala329Thr)
|
rs751260935
|
0.00006
|
NM_014714.4(IFT140):c.1021G>A (p.Ala341Thr)
|
rs200292484
|
0.00006
|
NM_014714.4(IFT140):c.1040G>A (p.Arg347Gln)
|
rs147556035
|
0.00006
|
NM_014714.4(IFT140):c.1160G>A (p.Gly387Asp)
|
rs781160807
|
0.00006
|
NM_014714.4(IFT140):c.2423C>T (p.Ala808Val)
|
rs748463111
|
0.00006
|
NM_014714.4(IFT140):c.2645C>T (p.Ala882Val)
|
rs200394007
|
0.00006
|
NM_014714.4(IFT140):c.337C>T (p.Pro113Ser)
|
rs756324852
|
0.00006
|
NM_014714.4(IFT140):c.3598A>C (p.Met1200Leu)
|
rs566568065
|
0.00006
|
NM_014714.4(IFT140):c.4379A>G (p.Asp1460Gly)
|
rs771632573
|
0.00006
|
NM_014714.4(IFT140):c.778C>T (p.Pro260Ser)
|
rs369671309
|
0.00006
|
NM_015506.3(MMACHC):c.688C>T (p.Arg230Ter)
|
rs201183360
|
0.00006
|
NM_015509.4(NECAP1):c.134G>C (p.Gly45Ala)
|
rs973563199
|
0.00006
|
NM_015509.4(NECAP1):c.56T>C (p.Val19Ala)
|
rs780390533
|
0.00006
|
NM_015509.4(NECAP1):c.581A>G (p.Lys194Arg)
|
rs765855460
|
0.00006
|
NM_015629.4(PRPF31):c.*190T>C
|
rs770812141
|
0.00006
|
NM_015629.4(PRPF31):c.1297G>A (p.Val433Ile)
|
rs201906830
|
0.00006
|
NM_015629.4(PRPF31):c.420+11A>G
|
rs371910233
|
0.00006
|
NM_015662.3(IFT172):c.1445T>G (p.Val482Gly)
|
rs61740250
|
0.00006
|
NM_015662.3(IFT172):c.2522C>T (p.Ala841Val)
|
rs762431558
|
0.00006
|
NM_015662.3(IFT172):c.4284C>G (p.Asp1428Glu)
|
rs199502476
|
0.00006
|
NM_015662.3(IFT172):c.4307A>C (p.Lys1436Thr)
|
rs377646246
|
0.00006
|
NM_015662.3(IFT172):c.4408G>A (p.Gly1470Arg)
|
rs146047876
|
0.00006
|
NM_015662.3(IFT172):c.442A>G (p.Ile148Val)
|
rs759861487
|
0.00006
|
NM_015702.3(MMADHC):c.*241A>G
|
rs528409808
|
0.00006
|
NM_015702.3(MMADHC):c.254A>G (p.Asn85Ser)
|
rs767542742
|
0.00006
|
NM_015702.3(MMADHC):c.515A>C (p.Lys172Thr)
|
rs147318949
|
0.00006
|
NM_016247.4(IMPG2):c.*2909C>T
|
rs138314103
|
0.00006
|
NM_016247.4(IMPG2):c.2093C>T (p.Ala698Val)
|
rs767082811
|
0.00006
|
NM_016247.4(IMPG2):c.2154C>A (p.Thr718=)
|
rs755250590
|
0.00006
|
NM_016247.4(IMPG2):c.3142C>T (p.Arg1048Trp)
|
rs770293441
|
0.00006
|
NM_016247.4(IMPG2):c.972C>T (p.Asp324=)
|
rs762052051
|
0.00006
|
NM_016335.6(PRODH):c.1093G>A (p.Val365Ile)
|
rs768237039
|
0.00006
|
NM_016335.6(PRODH):c.1295G>A (p.Arg432His)
|
rs143011525
|
0.00006
|
NM_016579.4(CD320):c.761G>A (p.Arg254Gln)
|
rs369347295
|
0.00006
|
NM_017739.4(POMGNT1):c.1826G>A (p.Arg609Gln)
|
rs371741722
|
0.00006
|
NM_018191.4(RCBTB1):c.1151A>G (p.His384Arg)
|
rs143970072
|
0.00006
|
NM_018368.4(LMBRD1):c.1343A>C (p.Asn448Thr)
|
rs375328924
|
0.00006
|
NM_018368.4(LMBRD1):c.1438A>G (p.Thr480Ala)
|
rs138023744
|
0.00006
|
NM_018368.4(LMBRD1):c.1510G>T (p.Val504Leu)
|
rs980145400
|
0.00006
|
NM_018368.4(LMBRD1):c.562C>T (p.His188Tyr)
|
rs554554993
|
0.00006
|
NM_018368.4(LMBRD1):c.94T>C (p.Tyr32His)
|
rs373241693
|
0.00006
|
NM_018706.7(DHTKD1):c.104C>T (p.Pro35Leu)
|
rs753355529
|
0.00006
|
NM_018706.7(DHTKD1):c.1594C>T (p.Arg532Trp)
|
rs781243504
|
0.00006
|
NM_018706.7(DHTKD1):c.1720G>A (p.Ala574Thr)
|
rs200095700
|
0.00006
|
NM_018706.7(DHTKD1):c.2659-3T>C
|
rs367606155
|
0.00006
|
NM_018706.7(DHTKD1):c.71A>G (p.Tyr24Cys)
|
rs895237537
|
0.00006
|
NM_018706.7(DHTKD1):c.863C>T (p.Ser288Leu)
|
rs201310721
|
0.00006
|
NM_018706.7(DHTKD1):c.923G>A (p.Arg308His)
|
rs17849603
|
0.00006
|
NM_020166.5(MCCC1):c.1367G>A (p.Arg456His)
|
rs146689034
|
0.00006
|
NM_020166.5(MCCC1):c.1474C>T (p.His492Tyr)
|
rs371795972
|
0.00006
|
NM_020166.5(MCCC1):c.1700C>T (p.Thr567Met)
|
rs762639338
|
0.00006
|
NM_020166.5(MCCC1):c.1773C>T (p.Ser591=)
|
rs200651846
|
0.00006
|
NM_020208.4(SLC6A20):c.262+4C>T
|
rs777914805
|
0.00006
|
NM_020208.4(SLC6A20):c.678C>T (p.Tyr226=)
|
rs149505473
|
0.00006
|
NM_020686.6(ABAT):c.*416C>T
|
rs76000284
|
0.00006
|
NM_020686.6(ABAT):c.*717G>A
|
rs563004736
|
0.00006
|
NM_020686.6(ABAT):c.1202G>A (p.Arg401Gln)
|
rs187929750
|
0.00006
|
NM_020686.6(ABAT):c.1274G>A (p.Arg425Gln)
|
rs368127499
|
0.00006
|
NM_020686.6(ABAT):c.1282C>G (p.Gln428Glu)
|
rs746205242
|
0.00006
|
NM_020686.6(ABAT):c.190A>G (p.Ile64Val)
|
rs756209600
|
0.00006
|
NM_020686.6(ABAT):c.25C>T (p.Arg9Cys)
|
rs201701679
|
0.00006
|
NM_020686.6(ABAT):c.367-3C>T
|
rs367740820
|
0.00006
|
NM_020686.6(ABAT):c.419T>C (p.Val140Ala)
|
rs886052429
|
0.00006
|
NM_020686.6(ABAT):c.816+19G>A
|
rs147226856
|
0.00006
|
NM_022132.5(MCCC2):c.*1354C>T
|
rs538509005
|
0.00006
|
NM_022132.5(MCCC2):c.*699T>C
|
rs886060741
|
0.00006
|
NM_022132.5(MCCC2):c.417C>T (p.Thr139=)
|
rs367635502
|
0.00006
|
NM_022367.4(SEMA4A):c.1265C>T (p.Thr422Ile)
|
rs145228550
|
0.00006
|
NM_022367.4(SEMA4A):c.1653C>A (p.Pro551=)
|
rs757466000
|
0.00006
|
NM_022367.4(SEMA4A):c.2251G>A (p.Ala751Thr)
|
rs747089050
|
0.00006
|
NM_025136.4(OPA3):c.*2545G>A
|
rs886054528
|
0.00006
|
NM_025136.4(OPA3):c.*4233G>A
|
rs576081836
|
0.00006
|
NM_025136.4(OPA3):c.*4585C>T
|
rs886054520
|
0.00006
|
NM_025136.4(OPA3):c.*4618G>A
|
rs1165606483
|
0.00006
|
NM_025136.4(OPA3):c.*5277G>A
|
rs535986790
|
0.00006
|
NM_025136.4(OPA3):c.*6278G>A
|
rs886054507
|
0.00006
|
NM_025136.4(OPA3):c.428C>T (p.Ala143Val)
|
rs553598004
|
0.00006
|
NM_030813.6(CLPB):c.670C>T (p.Arg224Trp)
|
rs149056885
|
0.00006
|
NM_030813.6(CLPB):c.735C>T (p.Gly245=)
|
rs201151763
|
0.00006
|
NM_031885.5(BBS2):c.-147G>T
|
rs886052154
|
0.00006
|
NM_031885.5(BBS2):c.1527+5G>C
|
rs769041685
|
0.00006
|
NM_031885.5(BBS2):c.1543G>A (p.Gly515Ser)
|
rs181107019
|
0.00006
|
NM_031885.5(BBS2):c.722A>C (p.Lys241Thr)
|
rs199918247
|
0.00006
|
NM_032601.3(MCEE):c.-36C>G
|
rs201494468
|
0.00006
|
NM_032861.4(SERAC1):c.1084A>T (p.Ile362Phe)
|
rs537530231
|
0.00006
|
NM_033100.4(CDHR1):c.*1202G>A
|
rs1039260787
|
0.00006
|
NM_033100.4(CDHR1):c.*1252C>T
|
rs192276321
|
0.00006
|
NM_033100.4(CDHR1):c.*269C>T
|
rs375246992
|
0.00006
|
NM_033100.4(CDHR1):c.*3498G>A
|
rs557462608
|
0.00006
|
NM_033100.4(CDHR1):c.*914C>A
|
rs886047337
|
0.00006
|
NM_033100.4(CDHR1):c.1220G>A (p.Arg407Gln)
|
rs201004571
|
0.00006
|
NM_033100.4(CDHR1):c.1471G>A (p.Val491Met)
|
rs138638103
|
0.00006
|
NM_033100.4(CDHR1):c.1854C>T (p.Asn618=)
|
rs373373894
|
0.00006
|
NM_052845.4(MMAB):c.*1683G>A
|
rs572832766
|
0.00006
|
NM_052845.4(MMAB):c.*335G>A
|
rs745373257
|
0.00006
|
NM_052845.4(MMAB):c.*691A>C
|
rs886048922
|
0.00006
|
NM_052845.4(MMAB):c.150G>A (p.Ser50=)
|
rs754357121
|
0.00006
|
NM_052845.4(MMAB):c.158C>T (p.Pro53Leu)
|
rs764683053
|
0.00006
|
NM_052845.4(MMAB):c.256G>A (p.Val86Met)
|
rs143935056
|
0.00006
|
NM_052845.4(MMAB):c.472G>A (p.Asp158Asn)
|
rs925180956
|
0.00006
|
NM_054012.3(ASS1):c.-242G>C
|
rs567339064
|
0.00006
|
NM_054012.4(ASS1):c.*58C>T
|
rs183494785
|
0.00006
|
NM_054012.4(ASS1):c.295G>A (p.Ala99Thr)
|
rs150466363
|
0.00006
|
NM_054012.4(ASS1):c.458G>A (p.Arg153Gln)
|
rs373239430
|
0.00006
|
NM_058179.4(PSAT1):c.*789A>G
|
rs1057515674
|
0.00006
|
NM_058179.4(PSAT1):c.793G>A (p.Ala265Thr)
|
rs764335664
|
0.00006
|
NM_144596.4(TTC8):c.*247T>C
|
rs886050879
|
0.00006
|
NM_144596.4(TTC8):c.4A>G (p.Ser2Gly)
|
rs759112760
|
0.00006
|
NM_144596.4(TTC8):c.874G>A (p.Val292Ile)
|
rs375086490
|
0.00006
|
NM_144596.4(TTC8):c.913A>G (p.Met305Val)
|
rs143237548
|
0.00006
|
NM_145261.4(DNAJC19):c.280+5G>C
|
rs762722601
|
0.00006
|
NM_145698.5(ACBD5):c.407T>C (p.Val136Ala)
|
rs573943806
|
0.00006
|
NM_152419.3(HGSNAT):c.1297A>G (p.Asn433Asp)
|
rs371469177
|
0.00006
|
NM_152419.3(HGSNAT):c.1687G>A (p.Val563Met)
|
rs761054871
|
0.00006
|
NM_152419.3(HGSNAT):c.616G>A (p.Asp206Asn)
|
rs367799225
|
0.00006
|
NM_152419.3(HGSNAT):c.704C>T (p.Ala235Val)
|
rs777641646
|
0.00006
|
NM_152419.3(HGSNAT):c.721C>T (p.Arg241Cys)
|
rs564435701
|
0.00006
|
NM_152542.5(PPM1K):c.145C>T (p.Arg49Trp)
|
rs758727668
|
0.00006
|
NM_152542.5(PPM1K):c.208C>T (p.Arg70Cys)
|
rs372205324
|
0.00006
|
NM_153006.3(NAGS):c.290C>T (p.Ser97Leu)
|
rs746624443
|
0.00006
|
NM_153265.3(EML3):c.-283G>A
|
rs922097086
|
0.00006
|
NM_172250.3(MMAA):c.*1838G>A
|
rs886059098
|
0.00006
|
NM_172250.3(MMAA):c.*2645C>T
|
rs568954220
|
0.00006
|
NM_172250.3(MMAA):c.*4228T>C
|
rs533826043
|
0.00006
|
NM_172250.3(MMAA):c.-69G>T
|
rs886059086
|
0.00006
|
NM_172250.3(MMAA):c.1193T>C (p.Ile398Thr)
|
rs777459994
|
0.00006
|
NM_172250.3(MMAA):c.850G>C (p.Asp284His)
|
rs758654806
|
0.00006
|
NM_172250.3(MMAA):c.92G>A (p.Ser31Asn)
|
rs142126209
|
0.00006
|
NM_172250.3(MMAA):c.947G>A (p.Arg316His)
|
rs377228966
|
0.00006
|
NM_177550.5(SLC13A5):c.1138C>T (p.Arg380Cys)
|
rs377270604
|
0.00006
|
NM_177550.5(SLC13A5):c.277G>A (p.Gly93Ser)
|
rs201070023
|
0.00006
|
NM_177550.5(SLC13A5):c.752C>T (p.Ala251Val)
|
rs150517372
|
0.00006
|
NM_177965.4(CFAP418):c.82G>A (p.Glu28Lys)
|
rs768222931
|
0.00006
|
NM_177972.3(TUB):c.1232T>A (p.Leu411Gln)
|
rs200239459
|
0.00006
|
NM_177972.3(TUB):c.451G>A (p.Val151Met)
|
rs767402711
|
0.00006
|
NM_183050.4(BCKDHB):c.*1908A>G
|
rs368380717
|
0.00006
|
NM_183050.4(BCKDHB):c.509G>A (p.Arg170His)
|
rs371518124
|
0.00006
|
NM_201253.3(CRB1):c.1471G>A (p.Asp491Asn)
|
rs937362854
|
0.00006
|
NM_201253.3(CRB1):c.1945G>A (p.Asp649Asn)
|
rs138936375
|
0.00006
|
NM_201548.5(CERKL):c.41A>C (p.Glu14Ala)
|
rs372089851
|
0.00006
|
NM_205861.3(DHDDS):c.*109C>T
|
rs1032593244
|
0.00006
|
NM_205861.3(DHDDS):c.*1571A>C
|
rs900974941
|
0.00006
|
NM_205861.3(DHDDS):c.*174G>T
|
rs1022655060
|
0.00006
|
NM_205861.3(DHDDS):c.761T>C (p.Leu254Pro)
|
rs755439760
|
0.00006
|
NM_206933.4(USH2A):c.10126T>G (p.Tyr3376Asp)
|
rs150617613
|
0.00006
|
NM_206933.4(USH2A):c.10999A>C (p.Thr3667Pro)
|
rs150822759
|
0.00006
|
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His)
|
rs527236139
|
0.00006
|
NM_206933.4(USH2A):c.11230A>G (p.Arg3744Gly)
|
rs1426369789
|
0.00006
|
NM_206933.4(USH2A):c.11366T>C (p.Ile3789Thr)
|
rs183979371
|
0.00006
|
NM_206933.4(USH2A):c.12358C>T (p.Arg4120Cys)
|
rs727503718
|
0.00006
|
NM_206933.4(USH2A):c.12667T>C (p.Phe4223Leu)
|
rs150900847
|
0.00006
|
NM_206933.4(USH2A):c.13423A>G (p.Arg4475Gly)
|
rs753823008
|
0.00006
|
NM_206933.4(USH2A):c.13490T>A (p.Phe4497Tyr)
|
rs145719886
|
0.00006
|
NM_206933.4(USH2A):c.14191G>A (p.Gly4731Arg)
|
rs148674752
|
0.00006
|
NM_206933.4(USH2A):c.14219C>A (p.Ala4740Asp)
|
rs539192853
|
0.00006
|
NM_206933.4(USH2A):c.1438G>A (p.Val480Ile)
|
rs138694314
|
0.00006
|
NM_206933.4(USH2A):c.14398A>G (p.Asn4800Asp)
|
rs370127889
|
0.00006
|
NM_206933.4(USH2A):c.14957C>T (p.Thr4986Met)
|
rs375429745
|
0.00006
|
NM_206933.4(USH2A):c.15496A>G (p.Ile5166Val)
|
rs111033419
|
0.00006
|
NM_206933.4(USH2A):c.184G>A (p.Asp62Asn)
|
rs567937233
|
0.00006
|
NM_206933.4(USH2A):c.1A>G (p.Met1Val)
|
rs924627806
|
0.00006
|
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)
|
rs201527662
|
0.00006
|
NM_206933.4(USH2A):c.4627+510G>A
|
rs941646674
|
0.00006
|
NM_206933.4(USH2A):c.5789G>A (p.Arg1930Gln)
|
rs200348779
|
0.00006
|
NM_206933.4(USH2A):c.5855C>T (p.Ala1952Val)
|
rs773405046
|
0.00006
|
NM_206933.4(USH2A):c.586C>T (p.Pro196Ser)
|
rs756041909
|
0.00006
|
NM_206933.4(USH2A):c.6563C>A (p.Thr2188Lys)
|
rs374409616
|
0.00006
|
NM_206933.4(USH2A):c.6724G>A (p.Glu2242Lys)
|
rs375278546
|
0.00006
|
NM_206933.4(USH2A):c.7475C>T (p.Ser2492Leu)
|
rs483353056
|
0.00006
|
NM_206933.4(USH2A):c.7616C>T (p.Pro2539Leu)
|
rs147333637
|
0.00006
|
NM_206933.4(USH2A):c.7679A>G (p.Asn2560Ser)
|
rs370155266
|
0.00006
|
NM_206933.4(USH2A):c.8431C>A (p.Pro2811Thr)
|
rs111033529
|
0.00006
|
NM_206933.4(USH2A):c.8790T>G (p.Asn2930Lys)
|
rs754774098
|
0.00006
|
NM_206933.4(USH2A):c.9356G>A (p.Arg3119His)
|
rs199885325
|
0.00006
|
NM_206933.4(USH2A):c.9949C>T (p.Arg3317Cys)
|
rs200696560
|
0.00006
|
NM_212552.3(BOLA3):c.*190G>A
|
rs886056325
|
0.00006
|
NM_000017.4(ACADS):c.1157G>A (p.Arg386His)
|
rs766183395
|
0.00005
|
NM_000017.4(ACADS):c.58A>G (p.Arg20Gly)
|
rs745510897
|
0.00005
|
NM_000018.4(ACADVL):c.1077+16G>A
|
rs780420241
|
0.00005
|
NM_000018.4(ACADVL):c.1754C>T (p.Ala585Val)
|
rs374729641
|
0.00005
|
NM_000018.4(ACADVL):c.760G>A (p.Gly254Ser)
|
rs765423779
|
0.00005
|
NM_000019.4(ACAT1):c.34G>A (p.Ala12Thr)
|
rs764674778
|
0.00005
|
NM_000026.4(ADSL):c.1060A>G (p.Thr354Ala)
|
rs75953451
|
0.00005
|
NM_000026.4(ADSL):c.1200T>C (p.His400=)
|
rs751401941
|
0.00005
|
NM_000048.4(ASL):c.-16C>T
|
rs372229504
|
0.00005
|
NM_000048.4(ASL):c.1263G>A (p.Ser421=)
|
rs542163407
|
0.00005
|
NM_000048.4(ASL):c.75C>T (p.Asn25=)
|
rs370260834
|
0.00005
|
NM_000071.3(CBS):c.1468-6T>G
|
rs771250766
|
0.00005
|
NM_000071.3(CBS):c.1564G>A (p.Gly522Arg)
|
rs201916339
|
0.00005
|
NM_000071.3(CBS):c.953C>T (p.Thr318Met)
|
rs769541394
|
0.00005
|
NM_000126.4(ETFA):c.-7G>A
|
rs779643894
|
0.00005
|
NM_000156.6(GAMT):c.511C>G (p.Leu171Val)
|
rs770110177
|
0.00005
|
NM_000159.4(GCDH):c.-49G>A
|
rs886054240
|
0.00005
|
NM_000159.4(GCDH):c.1092C>T (p.Pro364=)
|
rs146363703
|
0.00005
|
NM_000159.4(GCDH):c.1210G>A (p.Ala404Thr)
|
rs201509112
|
0.00005
|
NM_000159.4(GCDH):c.881G>A (p.Arg294Gln)
|
rs775606471
|
0.00005
|
NM_000161.3(GCH1):c.*1824A>C
|
rs754395380
|
0.00005
|
NM_000161.3(GCH1):c.543T>G (p.Val181=)
|
rs765670568
|
0.00005
|
NM_000170.3(GLDC):c.1067C>G (p.Thr356Ser)
|
rs376612483
|
0.00005
|
NM_000170.3(GLDC):c.1791G>C (p.Glu597Asp)
|
rs141875337
|
0.00005
|
NM_000170.3(GLDC):c.1926G>A (p.Thr642=)
|
rs772101467
|
0.00005
|
NM_000170.3(GLDC):c.250C>T (p.Leu84=)
|
rs746606221
|
0.00005
|
NM_000170.3(GLDC):c.2578G>A (p.Gly860Ser)
|
rs753759723
|
0.00005
|
NM_000170.3(GLDC):c.270G>C (p.Leu90Phe)
|
rs747736821
|
0.00005
|
NM_000170.3(GLDC):c.576C>G (p.Ala192=)
|
rs768514155
|
0.00005
|
NM_000170.3(GLDC):c.886C>A (p.Leu296Ile)
|
rs200413149
|
0.00005
|
NM_000182.5(HADHA):c.1947T>A (p.Asn649Lys)
|
rs777153382
|
0.00005
|
NM_000191.3(HMGCL):c.454G>A (p.Ala152Thr)
|
rs146306707
|
0.00005
|
NM_000191.3(HMGCL):c.470C>T (p.Ala157Val)
|
rs147752765
|
0.00005
|
NM_000191.3(HMGCL):c.720A>G (p.Gln240=)
|
rs911190800
|
0.00005
|
NM_000191.3(HMGCL):c.76A>G (p.Met26Val)
|
rs756958205
|
0.00005
|
NM_000254.3(MTR):c.2117A>G (p.Asn706Ser)
|
rs147670189
|
0.00005
|
NM_000254.3(MTR):c.764+6T>C
|
rs377357761
|
0.00005
|
NM_000255.4(MMUT):c.-47G>A
|
rs909215931
|
0.00005
|
NM_000255.4(MMUT):c.1630G>A (p.Gly544Arg)
|
rs78150750
|
0.00005
|
NM_000274.4(OAT):c.649C>T (p.Arg217Cys)
|
rs370970194
|
0.00005
|
NM_000276.4(OCRL):c.1602G>A (p.Gly534=)
|
rs773214157
|
0.00005
|
NM_000277.3(PAH):c.350C>T (p.Thr117Ile)
|
rs281865439
|
0.00005
|
NM_000281.4(PCBD1):c.91C>T (p.Arg31Cys)
|
rs11554325
|
0.00005
|
NM_000282.4(PCCA):c.1154A>G (p.Lys385Arg)
|
rs192543675
|
0.00005
|
NM_000282.4(PCCA):c.945G>A (p.Ala315=)
|
rs373115130
|
0.00005
|
NM_000283.3(PDE6B):c.*797G>A
|
rs1463865281
|
0.00005
|
NM_000283.4(PDE6B):c.2344G>A (p.Val782Met)
|
rs145124626
|
0.00005
|
NM_000317.3(PTS):c.132C>T (p.Asn44=)
|
rs763556416
|
0.00005
|
NM_000320.3(QDPR):c.728A>G (p.Tyr243Cys)
|
rs565356844
|
0.00005
|
NM_000322.5(PRPH2):c.888C>T (p.Pro296=)
|
rs183714869
|
0.00005
|
NM_000329.3(RPE65):c.254G>A (p.Arg85His)
|
rs61752870
|
0.00005
|
NM_000329.3(RPE65):c.565G>A (p.Val189Ile)
|
rs752990312
|
0.00005
|
NM_000341.4(SLC3A1):c.1137-3T>C
|
rs555017366
|
0.00005
|
NM_000341.4(SLC3A1):c.569T>C (p.Met190Thr)
|
rs772817732
|
0.00005
|
NM_000341.4(SLC3A1):c.935G>C (p.Ser312Thr)
|
rs201325919
|
0.00005
|
NM_000350.3(ABCA4):c.4417C>A (p.Leu1473Met)
|
rs142732109
|
0.00005
|
NM_000360.4(TH):c.110G>A (p.Arg37His)
|
rs368122376
|
0.00005
|
NM_000360.4(TH):c.1277C>T (p.Thr426Met)
|
rs201330304
|
0.00005
|
NM_000360.4(TH):c.19A>C (p.Thr7Pro)
|
rs768150949
|
0.00005
|
NM_000360.4(TH):c.398G>A (p.Arg133His)
|
rs376881948
|
0.00005
|
NM_000360.4(TH):c.71A>G (p.Lys24Arg)
|
rs768206231
|
0.00005
|
NM_000372.5(TYR):c.1063G>C (p.Ala355Pro)
|
rs62645908
|
0.00005
|
NM_000440.3(PDE6A):c.*1339T>G
|
rs911447952
|
0.00005
|
NM_000440.3(PDE6A):c.*1389T>C
|
rs886060210
|
0.00005
|
NM_000440.3(PDE6A):c.*2717G>A
|
rs578087908
|
0.00005
|
NM_000440.3(PDE6A):c.1296A>G (p.Leu432=)
|
rs372161698
|
0.00005
|
NM_000440.3(PDE6A):c.2131G>A (p.Val711Ile)
|
rs764962408
|
0.00005
|
NM_000440.3(PDE6A):c.285C>T (p.Ser95=)
|
rs765008436
|
0.00005
|
NM_000440.3(PDE6A):c.363C>T (p.Leu121=)
|
rs767520227
|
0.00005
|
NM_000481.4(AMT):c.436G>A (p.Ala146Thr)
|
rs570868528
|
0.00005
|
NM_000485.3(APRT):c.482C>T (p.Ser161Leu)
|
rs766909450
|
0.00005
|
NM_000531.6(OTC):c.1005+11A>T
|
rs375524303
|
0.00005
|
NM_000532.5(PCCB):c.1127G>A (p.Arg376His)
|
rs142982097
|
0.00005
|
NM_000532.5(PCCB):c.1352C>T (p.Thr451Ile)
|
rs145135400
|
0.00005
|
NM_000539.3(RHO):c.*285G>A
|
rs1487459358
|
0.00005
|
NM_000539.3(RHO):c.178T>C (p.Tyr60His)
|
rs771007146
|
0.00005
|
NM_000539.3(RHO):c.697-11G>A
|
rs367631575
|
0.00005
|
NM_000541.5(SAG):c.*113C>T
|
rs1055247940
|
0.00005
|
NM_000541.5(SAG):c.154G>C (p.Asp52His)
|
rs200296556
|
0.00005
|
NM_000554.6(CRX):c.*2357G>A
|
rs1053302157
|
0.00005
|
NM_000554.6(CRX):c.*498G>A
|
rs1004933827
|
0.00005
|
NM_000554.6(CRX):c.344G>A (p.Arg115Gln)
|
rs750727986
|
0.00005
|
NM_000554.6(CRX):c.606C>T (p.Cys202=)
|
rs764877352
|
0.00005
|
NM_000709.4(BCKDHA):c.*126G>A
|
rs748757436
|
0.00005
|
NM_000709.4(BCKDHA):c.1093C>T (p.Arg365Trp)
|
rs1218567341
|
0.00005
|
NM_000709.4(BCKDHA):c.1277C>T (p.Ser426Phe)
|
rs557058340
|
0.00005
|
NM_000709.4(BCKDHA):c.174G>A (p.Ser58=)
|
rs576803251
|
0.00005
|
NM_000883.4(IMPDH1):c.1280C>T (p.Pro427Leu)
|
rs763999626
|
0.00005
|
NM_000883.4(IMPDH1):c.1350C>T (p.Gly450=)
|
rs780213373
|
0.00005
|
NM_000883.4(IMPDH1):c.146+9C>T
|
rs749118285
|
0.00005
|
NM_001001563.5(TIMM50):c.1033C>T (p.Arg345Cys)
|
rs137968278
|
0.00005
|
NM_001002755.2(NFU1):c.-179C>G
|
rs992843651
|
0.00005
|
NM_001002755.4(NFU1):c.20G>T (p.Arg7Leu)
|
rs765309844
|
0.00005
|
NM_001002755.4(NFU1):c.545+4C>T
|
rs371601286
|
0.00005
|
NM_001024845.3(SLC6A9):c.116C>T (p.Thr39Met)
|
rs200545935
|
0.00005
|
NM_001029883.3(PCARE):c.2898A>C (p.Pro966=)
|
rs187119693
|
0.00005
|
NM_001029883.3(PCARE):c.3254C>T (p.Ser1085Leu)
|
rs202213660
|
0.00005
|
NM_001029883.3(PCARE):c.3590G>A (p.Arg1197His)
|
rs375769419
|
0.00005
|
NM_001029883.3(PCARE):c.3605G>A (p.Arg1202Gln)
|
rs200071634
|
0.00005
|
NM_001077620.3(PRCD):c.*1343C>T
|
rs886053481
|
0.00005
|
NM_001077620.3(PRCD):c.*1410G>C
|
rs374415732
|
0.00005
|
NM_001080.3(ALDH5A1):c.*1918G>A
|
rs559549612
|
0.00005
|
NM_001080.3(ALDH5A1):c.*2869T>G
|
rs189158766
|
0.00005
|
NM_001080.3(ALDH5A1):c.*3120T>C
|
rs1201326402
|
0.00005
|
NM_001080.3(ALDH5A1):c.*3146C>T
|
rs567288319
|
0.00005
|
NM_001080.3(ALDH5A1):c.1169A>G (p.Glu390Gly)
|
rs142677472
|
0.00005
|
NM_001080.3(ALDH5A1):c.1381G>A (p.Ala461Thr)
|
rs768957232
|
0.00005
|
NM_001080.3(ALDH5A1):c.1412A>C (p.Tyr471Ser)
|
rs71555150
|
0.00005
|
NM_001080.3(ALDH5A1):c.155C>A (p.Ala52Glu)
|
rs1470894211
|
0.00005
|
NM_001080.3(ALDH5A1):c.676G>A (p.Val226Met)
|
rs770884090
|
0.00005
|
NM_001081.4(CUBN):c.*195T>C
|
rs886046859
|
0.00005
|
NM_001081.4(CUBN):c.*470T>C
|
rs886046855
|
0.00005
|
NM_001081.4(CUBN):c.10102A>G (p.Met3368Val)
|
rs767333853
|
0.00005
|
NM_001081.4(CUBN):c.10235C>T (p.Pro3412Leu)
|
rs556303931
|
0.00005
|
NM_001081.4(CUBN):c.113A>G (p.Asn38Ser)
|
rs776471095
|
0.00005
|
NM_001081.4(CUBN):c.1230C>T (p.Ile410=)
|
rs144627803
|
0.00005
|
NM_001081.4(CUBN):c.2476G>A (p.Val826Ile)
|
rs141874896
|
0.00005
|
NM_001081.4(CUBN):c.4092C>G (p.Ser1364=)
|
rs199763912
|
0.00005
|
NM_001081.4(CUBN):c.4420C>T (p.Pro1474Ser)
|
rs201251467
|
0.00005
|
NM_001081.4(CUBN):c.4797G>T (p.Leu1599Phe)
|
rs201294291
|
0.00005
|
NM_001081.4(CUBN):c.4964C>G (p.Pro1655Arg)
|
rs532968940
|
0.00005
|
NM_001081.4(CUBN):c.5189C>T (p.Thr1730Met)
|
rs201958183
|
0.00005
|
NM_001142800.2(EYS):c.1765A>G (p.Arg589Gly)
|
rs778030177
|
0.00005
|
NM_001142800.2(EYS):c.2642-5T>G
|
rs767752603
|
0.00005
|
NM_001142800.2(EYS):c.3010A>C (p.Asn1004His)
|
rs781222768
|
0.00005
|
NM_001142800.2(EYS):c.3446G>A (p.Cys1149Tyr)
|
rs1315175190
|
0.00005
|
NM_001142800.2(EYS):c.4115C>T (p.Pro1372Leu)
|
rs569134881
|
0.00005
|
NM_001142800.2(EYS):c.522C>T (p.Cys174=)
|
rs373343831
|
0.00005
|
NM_001142800.2(EYS):c.557A>G (p.His186Arg)
|
rs140341077
|
0.00005
|
NM_001142800.2(EYS):c.6473T>C (p.Leu2158Pro)
|
rs777735735
|
0.00005
|
NM_001142800.2(EYS):c.6571+5G>A
|
rs991580368
|
0.00005
|
NM_001142800.2(EYS):c.6961A>C (p.Ile2321Leu)
|
rs149823162
|
0.00005
|
NM_001142800.2(EYS):c.833T>C (p.Phe278Ser)
|
rs142777049
|
0.00005
|
NM_001201543.2(FAM161A):c.*1432T>C
|
rs558710194
|
0.00005
|
NM_001201543.2(FAM161A):c.1583+13G>A
|
rs200160715
|
0.00005
|
NM_001201543.2(FAM161A):c.1628G>A (p.Arg543Gln)
|
rs374748539
|
0.00005
|
NM_001243279.3(ACSF3):c.1670C>T (p.Pro557Leu)
|
rs780364085
|
0.00005
|
NM_001243279.3(ACSF3):c.194G>A (p.Arg65His)
|
rs745633046
|
0.00005
|
NM_001243279.3(ACSF3):c.390C>T (p.Pro130=)
|
rs368192538
|
0.00005
|
NM_001243279.3(ACSF3):c.828G>T (p.Trp276Cys)
|
rs570233664
|
0.00005
|
NM_001258392.3(CLPB):c.1570C>T (p.Arg524Trp)
|
rs200299650
|
0.00005
|
NM_001258392.3(CLPB):c.1994G>A (p.Arg665Gln)
|
rs374538248
|
0.00005
|
NM_001271.4(CHD2):c.5351T>C (p.Val1784Ala)
|
rs776419537
|
0.00005
|
NM_001278293.3(ARL6):c.121A>G (p.Asn41Asp)
|
rs201618364
|
0.00005
|
NM_001297.5(CNGB1):c.*1676A>G
|
rs971052014
|
0.00005
|
NM_001297.5(CNGB1):c.1322C>T (p.Ala441Val)
|
rs376374823
|
0.00005
|
NM_001297.5(CNGB1):c.1699C>T (p.Arg567Trp)
|
rs556362158
|
0.00005
|
NM_001297.5(CNGB1):c.1733G>A (p.Arg578Gln)
|
rs371998765
|
0.00005
|
NM_001352514.2(HLCS):c.*1756C>T
|
rs748180401
|
0.00005
|
NM_001352514.2(HLCS):c.*1953A>G
|
rs767162730
|
0.00005
|
NM_001352514.2(HLCS):c.*2945C>T
|
rs71332549
|
0.00005
|
NM_001352514.2(HLCS):c.*490C>T
|
rs376741921
|
0.00005
|
NM_001352514.2(HLCS):c.1327G>A (p.Val443Ile)
|
rs200629955
|
0.00005
|
NM_001352514.2(HLCS):c.1857C>A (p.Ala619=)
|
rs759178651
|
0.00005
|
NM_001352514.2(HLCS):c.1910C>T (p.Pro637Leu)
|
rs536067980
|
0.00005
|
NM_001370658.1(BTD):c.383G>A (p.Arg128His)
|
rs367902696
|
0.00005
|
NM_001370658.1(BTD):c.48C>T (p.Tyr16=)
|
rs201823743
|
0.00005
|
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys)
|
rs369102875
|
0.00005
|
NM_001370658.1(BTD):c.847C>T (p.His283Tyr)
|
rs144084212
|
0.00005
|
NM_001482.3(GATM):c.61G>A (p.Gly21Arg)
|
rs903485357
|
0.00005
|
NM_001605.3(AARS1):c.2186G>A (p.Arg729Gln)
|
rs142850278
|
0.00005
|
NM_001609.4(ACADSB):c.1145C>T (p.Thr382Met)
|
rs772084235
|
0.00005
|
NM_001609.4(ACADSB):c.439A>T (p.Asn147Tyr)
|
rs747291865
|
0.00005
|
NM_001698.3(AUH):c.158G>T (p.Gly53Val)
|
rs747819278
|
0.00005
|
NM_001698.3(AUH):c.991A>T (p.Lys331Ter)
|
rs387906757
|
0.00005
|
NM_001739.2(CA5A):c.446C>T (p.Ala149Val)
|
rs113386477
|
0.00005
|
NM_001739.2(CA5A):c.623C>T (p.Ala208Val)
|
rs151220382
|
0.00005
|
NM_001739.2(CA5A):c.626G>A (p.Arg209Gln)
|
rs553928413
|
0.00005
|
NM_001875.5(CPS1):c.*848G>A
|
rs142796725
|
0.00005
|
NM_001875.5(CPS1):c.2066G>A (p.Arg689His)
|
rs201256385
|
0.00005
|
NM_001875.5(CPS1):c.2148T>A (p.Asn716Lys)
|
rs369061090
|
0.00005
|
NM_001875.5(CPS1):c.3121C>T (p.Leu1041=)
|
rs146064786
|
0.00005
|
NM_001875.5(CPS1):c.3538G>A (p.Ala1180Thr)
|
rs776047286
|
0.00005
|
NM_001876.4(CPT1A):c.434G>A (p.Arg145His)
|
rs373015421
|
0.00005
|
NM_001902.6(CTH):c.724+10A>G
|
rs763424314
|
0.00005
|
NM_001918.5(DBT):c.*4864C>T
|
rs920810590
|
0.00005
|
NM_001918.5(DBT):c.*9230T>C
|
rs893701906
|
0.00005
|
NM_001918.5(DBT):c.1111G>A (p.Ala371Thr)
|
rs777868718
|
0.00005
|
NM_001918.5(DBT):c.291C>T (p.Ser97=)
|
rs201318480
|
0.00005
|
NM_001918.5(DBT):c.572T>G (p.Val191Gly)
|
rs146894954
|
0.00005
|
NM_002098.6(GUCA1B):c.570C>T (p.Leu190=)
|
rs200001533
|
0.00005
|
NM_002108.4(HAL):c.*132C>T
|
rs140039557
|
0.00005
|
NM_002108.4(HAL):c.751G>A (p.Val251Ile)
|
rs769377973
|
0.00005
|
NM_002108.4(HAL):c.904-5G>A
|
rs189938038
|
0.00005
|
NM_002150.3(HPD):c.836G>A (p.Arg279His)
|
rs140144597
|
0.00005
|
NM_002150.3(HPD):c.914C>T (p.Thr305Met)
|
rs200010805
|
0.00005
|
NM_002225.5(IVD):c.*1172C>T
|
rs532691940
|
0.00005
|
NM_002225.5(IVD):c.*1884G>A
|
rs1325854341
|
0.00005
|
NM_002225.5(IVD):c.832A>C (p.Ser278Arg)
|
rs552272986
|
0.00005
|
NM_002454.3(MTRR):c.346C>A (p.Gln116Lys)
|
rs202110383
|
0.00005
|
NM_002454.3(MTRR):c.503C>T (p.Pro168Leu)
|
rs757635349
|
0.00005
|
NM_002602.4(PDE6G):c.51C>T (p.Ala17=)
|
rs775425650
|
0.00005
|
NM_002900.3(RBP3):c.2125G>T (p.Val709Leu)
|
rs782171257
|
0.00005
|
NM_003060.4(SLC22A5):c.1022G>A (p.Arg341Gln)
|
rs757199947
|
0.00005
|
NM_003060.4(SLC22A5):c.892C>T (p.Arg298Cys)
|
rs755114089
|
0.00005
|
NM_003124.5(SPR):c.536T>C (p.Met179Thr)
|
rs780440681
|
0.00005
|
NM_003748.4(ALDH4A1):c.*1199A>C
|
rs886045701
|
0.00005
|
NM_003748.4(ALDH4A1):c.1252G>C (p.Gly418Arg)
|
rs148586081
|
0.00005
|
NM_003748.4(ALDH4A1):c.421G>A (p.Ala141Thr)
|
rs377259750
|
0.00005
|
NM_003982.4(SLC7A7):c.1406C>T (p.Pro469Leu)
|
rs142739200
|
0.00005
|
NM_003982.4(SLC7A7):c.439C>T (p.Leu147Phe)
|
rs146280056
|
0.00005
|
NM_003982.4(SLC7A7):c.460C>T (p.Pro154Ser)
|
rs370225997
|
0.00005
|
NM_003982.4(SLC7A7):c.476G>A (p.Arg159His)
|
rs756297612
|
0.00005
|
NM_004170.6(SLC1A1):c.1071C>T (p.Phe357=)
|
rs372708972
|
0.00005
|
NM_004172.5(SLC1A3):c.1144G>A (p.Val382Met)
|
rs199787096
|
0.00005
|
NM_004183.4(BEST1):c.1064G>A (p.Arg355His)
|
rs368356148
|
0.00005
|
NM_004453.4(ETFDH):c.831+4T>C
|
rs752971257
|
0.00005
|
NM_004453.4(ETFDH):c.841A>G (p.Ile281Val)
|
rs761854400
|
0.00005
|
NM_004577.4(PSPH):c.*309A>G
|
rs886062388
|
0.00005
|
NM_004577.4(PSPH):c.*588G>A
|
rs751911806
|
0.00005
|
NM_004577.4(PSPH):c.346G>A (p.Val116Ile)
|
rs751400364
|
0.00005
|
NM_004577.4(PSPH):c.420C>T (p.Asn140=)
|
rs146276460
|
0.00005
|
NM_004937.3(CTNS):c.*1331G>A
|
rs555688774
|
0.00005
|
NM_004937.3(CTNS):c.*1383C>T
|
rs886052877
|
0.00005
|
NM_004937.3(CTNS):c.*2020T>C
|
rs543577418
|
0.00005
|
NM_004937.3(CTNS):c.*657A>G
|
rs970677281
|
0.00005
|
NM_004937.3(CTNS):c.139C>T (p.Arg47Trp)
|
rs201153770
|
0.00005
|
NM_004937.3(CTNS):c.285A>T (p.Gly95=)
|
rs373998956
|
0.00005
|
NM_005050.4(ABCD4):c.1028+5G>A
|
rs533842238
|
0.00005
|
NM_005050.4(ABCD4):c.364C>T (p.Leu122Phe)
|
rs141808601
|
0.00005
|
NM_005050.4(ABCD4):c.611T>C (p.Leu204Ser)
|
rs538521064
|
0.00005
|
NM_005327.7(HADH):c.132+7G>T
|
rs534966818
|
0.00005
|
NM_005334.3(HCFC1):c.4687G>A (p.Gly1563Ser)
|
rs782310209
|
0.00005
|
NM_005518.4(HMGCS2):c.1289C>T (p.Ala430Val)
|
rs141769037
|
0.00005
|
NM_005518.4(HMGCS2):c.502G>A (p.Gly168Ser)
|
rs746217014
|
0.00005
|
NM_005589.4(ALDH6A1):c.1373G>A (p.Arg458Gln)
|
rs369223978
|
0.00005
|
NM_005629.4(SLC6A8):c.820G>A (p.Val274Met)
|
rs782208622
|
0.00005
|
NM_005802.5(TOPORS):c.*341T>C
|
rs563137078
|
0.00005
|
NM_005802.5(TOPORS):c.1707A>G (p.Ser569=)
|
rs368712338
|
0.00005
|
NM_005802.5(TOPORS):c.715C>A (p.Pro239Thr)
|
rs373410505
|
0.00005
|
NM_005957.5(MTHFR):c.1028C>T (p.Pro343Leu)
|
rs775190420
|
0.00005
|
NM_006017.3(PROM1):c.1152G>C (p.Arg384Ser)
|
rs201748228
|
0.00005
|
NM_006017.3(PROM1):c.1344C>T (p.Ile448=)
|
rs147174580
|
0.00005
|
NM_006017.3(PROM1):c.2582+9A>C
|
rs200033458
|
0.00005
|
NM_006017.3(PROM1):c.718G>A (p.Gly240Arg)
|
rs752543587
|
0.00005
|
NM_006269.2(RP1):c.1380G>C (p.Lys460Asn)
|
rs143494598
|
0.00005
|
NM_006269.2(RP1):c.1841A>G (p.His614Arg)
|
rs762549305
|
0.00005
|
NM_006269.2(RP1):c.1980T>A (p.Asn660Lys)
|
rs886062990
|
0.00005
|
NM_006269.2(RP1):c.4735T>G (p.Leu1579Val)
|
rs200860068
|
0.00005
|
NM_006343.3(MERTK):c.1436T>A (p.Phe479Tyr)
|
rs145142422
|
0.00005
|
NM_006445.4(PRPF8):c.6447G>A (p.Pro2149=)
|
rs140315637
|
0.00005
|
NM_006623.4(PHGDH):c.262G>A (p.Ala88Thr)
|
rs142988234
|
0.00005
|
NM_006623.4(PHGDH):c.34A>G (p.Ser12Gly)
|
rs764316050
|
0.00005
|
NM_006623.4(PHGDH):c.372G>A (p.Ala124=)
|
rs146740411
|
0.00005
|
NM_006623.4(PHGDH):c.881G>A (p.Arg294His)
|
rs147049991
|
0.00005
|
NM_006623.4(PHGDH):c.916A>G (p.Met306Val)
|
rs587648058
|
0.00005
|
NM_006623.4(PHGDH):c.946G>A (p.Val316Met)
|
rs146398308
|
0.00005
|
NM_006859.4(LIAS):c.386C>T (p.Thr129Met)
|
rs142293392
|
0.00005
|
NM_006899.5(IDH3B):c.830T>C (p.Ile277Thr)
|
rs761437016
|
0.00005
|
NM_006915.3(RP2):c.*1458G>A
|
rs1057515895
|
0.00005
|
NM_006915.3(RP2):c.8G>C (p.Cys3Ser)
|
rs782344765
|
0.00005
|
NM_012213.3(MLYCD):c.1373T>C (p.Leu458Pro)
|
rs768566945
|
0.00005
|
NM_012213.3(MLYCD):c.497C>T (p.Ala166Val)
|
rs774598772
|
0.00005
|
NM_012213.3(MLYCD):c.637A>T (p.Ser213Cys)
|
rs552425982
|
0.00005
|
NM_012463.4(ATP6V0A2):c.*643C>T
|
rs377386130
|
0.00005
|
NM_014014.5(SNRNP200):c.1098C>T (p.Thr366=)
|
rs774935614
|
0.00005
|
NM_014014.5(SNRNP200):c.4721T>C (p.Ile1574Thr)
|
rs199736893
|
0.00005
|
NM_014014.5(SNRNP200):c.4966G>A (p.Val1656Met)
|
rs142585893
|
0.00005
|
NM_014049.5(ACAD9):c.1650C>G (p.Ala550=)
|
rs559422558
|
0.00005
|
NM_014249.4(NR2E3):c.1096G>A (p.Val366Met)
|
rs150971548
|
0.00005
|
NM_014249.4(NR2E3):c.428C>T (p.Pro143Leu)
|
rs776742417
|
0.00005
|
NM_014249.4(NR2E3):c.664G>A (p.Glu222Lys)
|
rs371945959
|
0.00005
|
NM_014251.2(SLC25A13):c.-160C>T
|
rs542691034
|
0.00005
|
NM_014251.2(SLC25A13):c.-205G>T
|
rs1035906140
|
0.00005
|
NM_014251.3(SLC25A13):c.1079G>A (p.Arg360Gln)
|
rs918547530
|
0.00005
|
NM_014251.3(SLC25A13):c.1754G>A (p.Arg585His)
|
rs367770143
|
0.00005
|
NM_014251.3(SLC25A13):c.454A>G (p.Thr152Ala)
|
rs146131228
|
0.00005
|
NM_014251.3(SLC25A13):c.551G>A (p.Arg184Gln)
|
rs142427515
|
0.00005
|
NM_014251.3(SLC25A13):c.635C>T (p.Ser212Phe)
|
rs137944390
|
0.00005
|
NM_014252.4(SLC25A15):c.381G>A (p.Thr127=)
|
rs543205273
|
0.00005
|
NM_014252.4(SLC25A15):c.388G>A (p.Val130Met)
|
rs553432772
|
0.00005
|
NM_014252.4(SLC25A15):c.417G>A (p.Glu139=)
|
rs752316567
|
0.00005
|
NM_014270.5(SLC7A9):c.604+2T>C
|
rs763110287
|
0.00005
|
NM_014336.5(AIPL1):c.900G>C (p.Ala300=)
|
rs373590751
|
0.00005
|
NM_014384.3(ACAD8):c.443C>T (p.Pro148Leu)
|
rs374584216
|
0.00005
|
NM_014714.4(IFT140):c.1976G>A (p.Arg659Gln)
|
rs780189760
|
0.00005
|
NM_014714.4(IFT140):c.1984G>A (p.Val662Ile)
|
rs199758112
|
0.00005
|
NM_014714.4(IFT140):c.2491C>T (p.Arg831Cys)
|
rs774690522
|
0.00005
|
NM_014714.4(IFT140):c.3382C>T (p.Arg1128Cys)
|
rs368830697
|
0.00005
|
NM_014714.4(IFT140):c.3779G>A (p.Arg1260Gln)
|
rs571556177
|
0.00005
|
NM_014714.4(IFT140):c.4274G>A (p.Arg1425Gln)
|
rs150276786
|
0.00005
|
NM_015506.3(MMACHC):c.329A>G (p.Asn110Ser)
|
rs781133955
|
0.00005
|
NM_015662.3(IFT172):c.2036C>T (p.Thr679Ile)
|
rs369169776
|
0.00005
|
NM_015662.3(IFT172):c.2351G>A (p.Arg784Gln)
|
rs370097039
|
0.00005
|
NM_015662.3(IFT172):c.3372-3C>T
|
rs150011917
|
0.00005
|
NM_015662.3(IFT172):c.3643G>A (p.Asp1215Asn)
|
rs777398021
|
0.00005
|
NM_015662.3(IFT172):c.4436A>G (p.Asn1479Ser)
|
rs757946737
|
0.00005
|
NM_015662.3(IFT172):c.4448G>A (p.Arg1483Lys)
|
rs201356906
|
0.00005
|
NM_015662.3(IFT172):c.4622A>G (p.Tyr1541Cys)
|
rs138003766
|
0.00005
|
NM_016247.4(IMPG2):c.*212G>T
|
rs981935479
|
0.00005
|
NM_016247.4(IMPG2):c.*3287C>G
|
rs753790568
|
0.00005
|
NM_016247.4(IMPG2):c.*372A>C
|
rs764107922
|
0.00005
|
NM_016247.4(IMPG2):c.165C>T (p.Asp55=)
|
rs145388804
|
0.00005
|
NM_016335.6(PRODH):c.1181C>T (p.Thr394Met)
|
rs777930066
|
0.00005
|
NM_016335.6(PRODH):c.853A>G (p.Ser285Gly)
|
rs199829422
|
0.00005
|
NM_018368.4(LMBRD1):c.416C>T (p.Thr139Met)
|
rs767657325
|
0.00005
|
NM_018368.4(LMBRD1):c.905G>A (p.Arg302His)
|
rs142962811
|
0.00005
|
NM_018706.7(DHTKD1):c.1408G>A (p.Gly470Arg)
|
rs35898320
|
0.00005
|
NM_020166.5(MCCC1):c.1941C>T (p.Gly647=)
|
rs199528231
|
0.00005
|
NM_020166.5(MCCC1):c.2035G>A (p.Ala679Thr)
|
rs202192191
|
0.00005
|
NM_020166.5(MCCC1):c.230C>T (p.Ala77Val)
|
rs776594363
|
0.00005
|
NM_020166.5(MCCC1):c.71G>C (p.Ser24Thr)
|
rs762409158
|
0.00005
|
NM_020686.6(ABAT):c.668-3C>T
|
rs375716049
|
0.00005
|
NM_020686.6(ABAT):c.950G>A (p.Arg317Lys)
|
rs768443644
|
0.00005
|
NM_022132.5(MCCC2):c.*1649C>T
|
rs539578408
|
0.00005
|
NM_022132.5(MCCC2):c.162T>C (p.Asn54=)
|
rs774812912
|
0.00005
|
NM_022132.5(MCCC2):c.641G>C (p.Gly214Ala)
|
rs277995
|
0.00005
|
NM_022132.5(MCCC2):c.775G>T (p.Asp259Tyr)
|
rs191457686
|
0.00005
|
NM_022367.4(SEMA4A):c.*187G>A
|
rs767596816
|
0.00005
|
NM_022367.4(SEMA4A):c.1028T>C (p.Leu343Pro)
|
rs368854370
|
0.00005
|
NM_022367.4(SEMA4A):c.86C>T (p.Thr29Met)
|
rs1045906206
|
0.00005
|
NM_024741.3(ZNF408):c.1928C>T (p.Ala643Val)
|
rs757827254
|
0.00005
|
NM_025136.4(OPA3):c.*1462C>T
|
rs978328141
|
0.00005
|
NM_025136.4(OPA3):c.*4586G>A
|
rs886054519
|
0.00005
|
NM_025136.4(OPA3):c.*5730C>T
|
rs1308663626
|
0.00005
|
NM_025136.4(OPA3):c.*7018G>C
|
rs557041940
|
0.00005
|
NM_031885.5(BBS2):c.1909A>T (p.Met637Leu)
|
rs967941621
|
0.00005
|
NM_033100.4(CDHR1):c.*1356A>G
|
rs886047343
|
0.00005
|
NM_033100.4(CDHR1):c.*1737C>T
|
rs181800100
|
0.00005
|
NM_033100.4(CDHR1):c.*1819C>T
|
rs750723702
|
0.00005
|
NM_033100.4(CDHR1):c.-33C>T
|
rs543373757
|
0.00005
|
NM_033100.4(CDHR1):c.1050G>A (p.Pro350=)
|
rs199721776
|
0.00005
|
NM_052845.4(MMAB):c.*424G>A
|
rs551461624
|
0.00005
|
NM_052845.4(MMAB):c.346A>G (p.Lys116Glu)
|
rs551289581
|
0.00005
|
NM_052845.4(MMAB):c.44G>A (p.Arg15His)
|
rs367711757
|
0.00005
|
NM_052845.4(MMAB):c.562G>A (p.Val188Met)
|
rs768176676
|
0.00005
|
NM_052845.4(MMAB):c.665C>T (p.Thr222Met)
|
rs142070439
|
0.00005
|
NM_054012.4(ASS1):c.1004G>A (p.Arg335His)
|
rs555388438
|
0.00005
|
NM_054012.4(ASS1):c.911G>A (p.Arg304Gln)
|
rs771640767
|
0.00005
|
NM_058179.4(PSAT1):c.181C>T (p.Arg61Trp)
|
rs150812587
|
0.00005
|
NM_058179.4(PSAT1):c.370G>A (p.Val124Ile)
|
rs140897665
|
0.00005
|
NM_058179.4(PSAT1):c.638G>A (p.Arg213His)
|
rs759482379
|
0.00005
|
NM_144596.4(TTC8):c.1078G>A (p.Gly360Ser)
|
rs771231605
|
0.00005
|
NM_144631.6(ZNF513):c.1225G>A (p.Val409Ile)
|
rs371898387
|
0.00005
|
NM_144631.6(ZNF513):c.1443G>A (p.Thr481=)
|
rs566881806
|
0.00005
|
NM_152419.3(HGSNAT):c.691T>C (p.Trp231Arg)
|
rs980989948
|
0.00005
|
NM_153006.3(NAGS):c.*382C>T
|
rs923164970
|
0.00005
|
NM_172250.3(MMAA):c.*3087A>G
|
rs983988317
|
0.00005
|
NM_172250.3(MMAA):c.1003A>T (p.Ile335Phe)
|
rs199749473
|
0.00005
|
NM_172250.3(MMAA):c.1121G>A (p.Ser374Asn)
|
rs778178659
|
0.00005
|
NM_172250.3(MMAA):c.175G>C (p.Asp59His)
|
rs371779800
|
0.00005
|
NM_172250.3(MMAA):c.912G>A (p.Ala304=)
|
rs371769807
|
0.00005
|
NM_172250.3(MMAA):c.989G>A (p.Arg330Gln)
|
rs140031911
|
0.00005
|
NM_174878.3(CLRN1):c.322C>T (p.Leu108Phe)
|
rs144691725
|
0.00005
|
NM_177972.3(TUB):c.164G>A (p.Arg55Gln)
|
rs371844684
|
0.00005
|
NM_183050.4(BCKDHB):c.1168A>G (p.Ile390Val)
|
rs753690047
|
0.00005
|
NM_201253.3(CRB1):c.1982G>T (p.Gly661Val)
|
rs780399679
|
0.00005
|
NM_201253.3(CRB1):c.3228T>C (p.Asp1076=)
|
rs780576185
|
0.00005
|
NM_201253.3(CRB1):c.3852G>A (p.Met1284Ile)
|
rs938864433
|
0.00005
|
NM_201253.3(CRB1):c.863G>T (p.Cys288Phe)
|
rs148240351
|
0.00005
|
NM_201548.5(CERKL):c.*1371C>T
|
rs984330083
|
0.00005
|
NM_201548.5(CERKL):c.15G>A (p.Arg5=)
|
rs762405291
|
0.00005
|
NM_205861.3(DHDDS):c.476G>A (p.Arg159His)
|
rs369429285
|
0.00005
|
NM_205861.3(DHDDS):c.65C>T (p.Ala22Val)
|
rs372070142
|
0.00005
|
NM_206933.4(USH2A):c.1346G>A (p.Arg449His)
|
rs766715882
|
0.00005
|
NM_206933.4(USH2A):c.14419G>A (p.Ala4807Thr)
|
rs534656527
|
0.00005
|
NM_206933.4(USH2A):c.1448C>T (p.Thr483Met)
|
rs201847741
|
0.00005
|
NM_206933.4(USH2A):c.1816G>C (p.Asp606His)
|
rs111033410
|
0.00005
|
NM_206933.4(USH2A):c.2792G>A (p.Cys931Tyr)
|
rs145383772
|
0.00005
|
NM_206933.4(USH2A):c.3700A>G (p.Ile1234Val)
|
rs200276882
|
0.00005
|
NM_206933.4(USH2A):c.4627+10T>C
|
rs148657311
|
0.00005
|
NM_206933.4(USH2A):c.4627+610G>A
|
rs886045947
|
0.00005
|
NM_206933.4(USH2A):c.7000A>G (p.Asn2334Asp)
|
rs201281141
|
0.00005
|
NM_206933.4(USH2A):c.7540A>C (p.Asn2514His)
|
rs777618162
|
0.00005
|
NM_206933.4(USH2A):c.8710G>A (p.Val2904Ile)
|
rs142649882
|
0.00005
|
NC_000022.11:g.40345595G>T
|
rs905746040
|
0.00004
|
NC_000022.11:g.40345634T>C
|
rs897270801
|
0.00004
|
NC_000022.11:g.40345661C>T
|
rs891295346
|
0.00004
|
NC_000022.11:g.40345972A>G
|
rs898010972
|
0.00004
|
NC_000022.11:g.40346228C>G
|
rs1426828844
|
0.00004
|
NC_000022.11:g.40346449G>C
|
rs554145337
|
0.00004
|
NC_000022.11:g.40346478G>C
|
rs936856129
|
0.00004
|
NM_000016.6(ACADM):c.287-10G>C
|
rs368875210
|
0.00004
|
NM_000016.6(ACADM):c.388-3T>G
|
rs764942250
|
0.00004
|
NM_000016.6(ACADM):c.388-5G>A
|
rs759254037
|
0.00004
|
NM_000016.6(ACADM):c.50G>A (p.Arg17His)
|
rs17848070
|
0.00004
|
NM_000016.6(ACADM):c.57T>C (p.His19=)
|
rs762984318
|
0.00004
|
NM_000017.4(ACADS):c.*10G>A
|
rs761682729
|
0.00004
|
NM_000017.4(ACADS):c.*37C>T
|
rs377080695
|
0.00004
|
NM_000017.4(ACADS):c.1104C>T (p.Gly368=)
|
rs200165866
|
0.00004
|
NM_000017.4(ACADS):c.417G>C (p.Trp139Cys)
|
rs149107232
|
0.00004
|
NM_000017.4(ACADS):c.663G>T (p.Gly221=)
|
rs751023929
|
0.00004
|
NM_000017.4(ACADS):c.775A>G (p.Met259Val)
|
rs752079325
|
0.00004
|
NM_000018.4(ACADVL):c.109C>T (p.Arg37Trp)
|
rs536992268
|
0.00004
|
NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp)
|
rs745832866
|
0.00004
|
NM_000018.4(ACADVL):c.138G>A (p.Gln46=)
|
rs775956800
|
0.00004
|
NM_000018.4(ACADVL):c.139-20C>T
|
rs374535729
|
0.00004
|
NM_000018.4(ACADVL):c.1531C>T (p.Arg511Trp)
|
rs771025937
|
0.00004
|
NM_000018.4(ACADVL):c.1592G>A (p.Arg531Gln)
|
rs772763960
|
0.00004
|
NM_000018.4(ACADVL):c.1820G>C (p.Cys607Ser)
|
rs200117742
|
0.00004
|
NM_000018.4(ACADVL):c.1849G>A (p.Gly617Ser)
|
rs752227163
|
0.00004
|
NM_000018.4(ACADVL):c.342+15G>A
|
rs777751102
|
0.00004
|
NM_000018.4(ACADVL):c.352G>A (p.Asp118Asn)
|
rs543878973
|
0.00004
|
NM_000018.4(ACADVL):c.866G>A (p.Gly289Glu)
|
rs778514103
|
0.00004
|
NM_000019.3(ACAT1):c.*464A>G
|
rs886047602
|
0.00004
|
NM_000019.4(ACAT1):c.1279C>A (p.Leu427Met)
|
rs201500937
|
0.00004
|
NM_000019.4(ACAT1):c.637G>A (p.Ala213Thr)
|
rs772087249
|
0.00004
|
NM_000019.4(ACAT1):c.770A>C (p.Lys257Thr)
|
rs370652435
|
0.00004
|
NM_000026.4(ADSL):c.1011-9G>C
|
rs780794164
|
0.00004
|
NM_000026.4(ADSL):c.1121G>A (p.Arg374Gln)
|
rs568567422
|
0.00004
|
NM_000026.4(ADSL):c.1262A>G (p.Asn421Ser)
|
rs145750778
|
0.00004
|
NM_000026.4(ADSL):c.1279A>G (p.Ile427Val)
|
rs758241731
|
0.00004
|
NM_000026.4(ADSL):c.1355G>A (p.Arg452His)
|
rs775671027
|
0.00004
|
NM_000026.4(ADSL):c.245A>G (p.Lys82Arg)
|
rs776685935
|
0.00004
|
NM_000026.4(ADSL):c.734G>A (p.Arg245Gln)
|
rs374047157
|
0.00004
|
NM_000026.4(ADSL):c.886C>T (p.Arg296Trp)
|
rs536254357
|
0.00004
|
NM_000045.4(ARG1):c.892G>C (p.Ala298Pro)
|
rs755359126
|
0.00004
|
NM_000045.4(ARG1):c.907T>G (p.Cys303Gly)
|
rs148113697
|
0.00004
|
NM_000045.4(ARG1):c.944T>C (p.Ile315Thr)
|
rs202219126
|
0.00004
|
NM_000048.4(ASL):c.*11A>G
|
rs199571661
|
0.00004
|
NM_000048.4(ASL):c.-34A>G
|
rs913916151
|
0.00004
|
NM_000048.4(ASL):c.1063-8G>A
|
rs548397162
|
0.00004
|
NM_000048.4(ASL):c.1358G>A (p.Arg453His)
|
rs762805462
|
0.00004
|
NM_000048.4(ASL):c.656-6C>G
|
rs374259737
|
0.00004
|
NM_000048.4(ASL):c.718+3G>A
|
rs368266194
|
0.00004
|
NM_000071.3(CBS):c.1281G>A (p.Pro427=)
|
rs563330591
|
0.00004
|
NM_000071.3(CBS):c.1499C>T (p.Ser500Leu)
|
rs755106884
|
0.00004
|
NM_000071.3(CBS):c.1512G>A (p.Glu504=)
|
rs149170219
|
0.00004
|
NM_000071.3(CBS):c.71C>T (p.Ala24Val)
|
rs759682004
|
0.00004
|
NM_000108.5(DLD):c.1382G>A (p.Gly461Glu)
|
rs757275923
|
0.00004
|
NM_000108.5(DLD):c.764T>C (p.Met255Thr)
|
rs185710460
|
0.00004
|
NM_000108.5(DLD):c.814T>C (p.Phe272Leu)
|
rs942843326
|
0.00004
|
NM_000108.5(DLD):c.82T>C (p.Ser28Pro)
|
rs768123909
|
0.00004
|
NM_000108.5(DLD):c.869A>G (p.Asp290Gly)
|
rs143555186
|
0.00004
|
NM_000126.4(ETFA):c.170G>C (p.Gly57Ala)
|
rs146299082
|
0.00004
|
NM_000126.4(ETFA):c.541G>A (p.Gly181Ser)
|
rs374127169
|
0.00004
|
NM_000126.4(ETFA):c.557A>G (p.Glu186Gly)
|
rs986861899
|
0.00004
|
NM_000126.4(ETFA):c.667C>T (p.Arg223Ter)
|
rs769976586
|
0.00004
|
NM_000137.4(FAH):c.1204C>T (p.Arg402Cys)
|
rs780378868
|
0.00004
|
NM_000137.4(FAH):c.322A>G (p.Ile108Val)
|
rs747942022
|
0.00004
|
NM_000137.4(FAH):c.484C>T (p.Arg162Cys)
|
rs959533704
|
0.00004
|
NM_000137.4(FAH):c.81+8G>A
|
rs188046704
|
0.00004
|
NM_000137.4(FAH):c.978G>T (p.Met326Ile)
|
rs374655382
|
0.00004
|
NM_000156.6(GAMT):c.311C>T (p.Pro104Leu)
|
rs368864187
|
0.00004
|
NM_000156.6(GAMT):c.419C>T (p.Ser140Leu)
|
rs747656257
|
0.00004
|
NM_000156.6(GAMT):c.655G>A (p.Asp219Asn)
|
rs753228876
|
0.00004
|
NM_000156.6(GAMT):c.8C>T (p.Ala3Val)
|
rs1467893087
|
0.00004
|
NM_000159.4(GCDH):c.*307G>A
|
rs533356351
|
0.00004
|
NM_000159.4(GCDH):c.428T>C (p.Val143Ala)
|
rs141456457
|
0.00004
|
NM_000159.4(GCDH):c.945C>T (p.Tyr315=)
|
rs138133019
|
0.00004
|
NM_000161.3(GCH1):c.*1058G>A
|
rs995386735
|
0.00004
|
NM_000161.3(GCH1):c.*441G>A
|
rs146536998
|
0.00004
|
NM_000161.3(GCH1):c.-106G>A
|
rs886050553
|
0.00004
|
NM_000170.3(GLDC):c.-21C>T
|
rs1057515609
|
0.00004
|
NM_000170.3(GLDC):c.1424C>T (p.Thr475Ile)
|
rs750883330
|
0.00004
|
NM_000170.3(GLDC):c.1483-15G>C
|
rs371777070
|
0.00004
|
NM_000170.3(GLDC):c.150G>A (p.Ser50=)
|
rs768354829
|
0.00004
|
NM_000170.3(GLDC):c.1626A>G (p.Glu542=)
|
rs779537709
|
0.00004
|
NM_000170.3(GLDC):c.1754T>C (p.Leu585Pro)
|
rs767055450
|
0.00004
|
NM_000170.3(GLDC):c.2035G>A (p.Val679Ile)
|
rs778376889
|
0.00004
|
NM_000170.3(GLDC):c.2362C>G (p.Leu788Val)
|
rs139300551
|
0.00004
|
NM_000170.3(GLDC):c.2545A>G (p.Arg849Gly)
|
rs778000679
|
0.00004
|
NM_000170.3(GLDC):c.292A>G (p.Asn98Asp)
|
rs750964572
|
0.00004
|
NM_000170.3(GLDC):c.489A>G (p.Pro163=)
|
rs770044310
|
0.00004
|
NM_000170.3(GLDC):c.745C>T (p.Pro249Ser)
|
rs778202301
|
0.00004
|
NM_000170.3(GLDC):c.869C>T (p.Ala290Val)
|
rs534936420
|
0.00004
|
NM_000182.5(HADHA):c.1003G>A (p.Glu335Lys)
|
rs769821069
|
0.00004
|
NM_000182.5(HADHA):c.1141G>A (p.Val381Met)
|
rs764067083
|
0.00004
|
NM_000182.5(HADHA):c.1209A>G (p.Gln403=)
|
rs780178287
|
0.00004
|
NM_000182.5(HADHA):c.1753G>A (p.Ala585Thr)
|
rs753722938
|
0.00004
|
NM_000182.5(HADHA):c.1788G>A (p.Ala596=)
|
rs190409957
|
0.00004
|
NM_000182.5(HADHA):c.316A>G (p.Met106Val)
|
rs143122454
|
0.00004
|
NM_000182.5(HADHA):c.323C>A (p.Ala108Asp)
|
rs762296285
|
0.00004
|
NM_000182.5(HADHA):c.585T>A (p.Pro195=)
|
rs202034466
|
0.00004
|
NM_000182.5(HADHA):c.858G>A (p.Val286=)
|
rs373864418
|
0.00004
|
NM_000182.5(HADHA):c.896C>A (p.Pro299His)
|
rs905722226
|
0.00004
|
NM_000187.4(HGD):c.*145C>T
|
rs1011081332
|
0.00004
|
NM_000187.4(HGD):c.177-5T>C
|
rs768308376
|
0.00004
|
NM_000187.4(HGD):c.347T>C (p.Leu116Pro)
|
rs569846003
|
0.00004
|
NM_000191.3(HMGCL):c.40G>C (p.Gly14Arg)
|
rs764292245
|
0.00004
|
NM_000191.3(HMGCL):c.805G>A (p.Ala269Thr)
|
rs368688262
|
0.00004
|
NM_000191.3(HMGCL):c.950A>G (p.Lys317Arg)
|
rs777758512
|
0.00004
|
NM_000240.4(MAOA):c.374A>G (p.Asn125Ser)
|
rs201799429
|
0.00004
|
NM_000254.3(MTR):c.1542A>T (p.Arg514Ser)
|
rs200479834
|
0.00004
|
NM_000254.3(MTR):c.2171G>C (p.Gly724Ala)
|
rs144374509
|
0.00004
|
NM_000254.3(MTR):c.2315A>G (p.Gln772Arg)
|
rs750824195
|
0.00004
|
NM_000254.3(MTR):c.2326G>A (p.Val776Met)
|
rs542575330
|
0.00004
|
NM_000254.3(MTR):c.2953C>T (p.Arg985Trp)
|
rs201015844
|
0.00004
|
NM_000254.3(MTR):c.3500G>A (p.Arg1167Gln)
|
rs556429682
|
0.00004
|
NM_000254.3(MTR):c.356T>C (p.Met119Thr)
|
rs151161326
|
0.00004
|
NM_000254.3(MTR):c.632A>G (p.Asn211Ser)
|
rs546918671
|
0.00004
|
NM_000254.3(MTR):c.659G>A (p.Arg220Gln)
|
rs780526997
|
0.00004
|
NM_000255.4(MMUT):c.*445A>G
|
rs1025441665
|
0.00004
|
NM_000255.4(MMUT):c.1607C>T (p.Ala536Val)
|
rs369902876
|
0.00004
|
NM_000255.4(MMUT):c.2084C>T (p.Pro695Leu)
|
rs561197473
|
0.00004
|
NM_000274.3(OAT):c.-104T>C
|
rs886046813
|
0.00004
|
NM_000274.4(OAT):c.1228G>A (p.Asp410Asn)
|
rs745530000
|
0.00004
|
NM_000276.4(OCRL):c.1467T>C (p.Ser489=)
|
rs142398161
|
0.00004
|
NM_000276.4(OCRL):c.1943C>T (p.Ser648Leu)
|
rs753260631
|
0.00004
|
NM_000277.3(PAH):c.1002C>T (p.Cys334=)
|
rs140243918
|
0.00004
|
NM_000277.3(PAH):c.1010G>A (p.Gly337Glu)
|
rs62517206
|
0.00004
|
NM_000277.3(PAH):c.1093C>T (p.Leu365Phe)
|
rs951540129
|
0.00004
|
NM_000277.3(PAH):c.1237C>T (p.Arg413Cys)
|
rs62644467
|
0.00004
|
NM_000277.3(PAH):c.420G>A (p.Ala140=)
|
rs200366386
|
0.00004
|
NM_000281.4(PCBD1):c.262C>T (p.Arg88Trp)
|
rs564505637
|
0.00004
|
NM_000282.4(PCCA):c.1763C>T (p.Ser588Leu)
|
rs532947142
|
0.00004
|
NM_000282.4(PCCA):c.2069T>C (p.Ile690Thr)
|
rs376535469
|
0.00004
|
NM_000282.4(PCCA):c.782A>G (p.Glu261Gly)
|
rs1169861687
|
0.00004
|
NM_000282.4(PCCA):c.819+9A>G
|
rs372739944
|
0.00004
|
NM_000282.4(PCCA):c.825A>G (p.Leu275=)
|
rs376560248
|
0.00004
|
NM_000282.4(PCCA):c.943G>A (p.Ala315Thr)
|
rs759223615
|
0.00004
|
NM_000283.4(PDE6B):c.*381C>T
|
rs1023673457
|
0.00004
|
NM_000283.4(PDE6B):c.1685G>A (p.Gly562Asp)
|
rs774268095
|
0.00004
|
NM_000283.4(PDE6B):c.204G>C (p.Glu68Asp)
|
rs200079698
|
0.00004
|
NM_000283.4(PDE6B):c.2150G>A (p.Cys717Tyr)
|
rs142936195
|
0.00004
|
NM_000283.4(PDE6B):c.559G>A (p.Val187Met)
|
rs138615156
|
0.00004
|
NM_000283.4(PDE6B):c.698C>T (p.Thr233Met)
|
rs752852029
|
0.00004
|
NM_000283.4(PDE6B):c.789G>A (p.Thr263=)
|
rs138789637
|
0.00004
|
NM_000317.3(PTS):c.*16T>C
|
rs760097954
|
0.00004
|
NM_000317.3(PTS):c.164-672C>T
|
rs1030849527
|
0.00004
|
NM_000320.3(QDPR):c.504C>G (p.Asn168Lys)
|
rs767223209
|
0.00004
|
NM_000322.5(PRPH2):c.*417A>T
|
rs531859483
|
0.00004
|
NM_000322.5(PRPH2):c.*917G>A
|
rs185036139
|
0.00004
|
NM_000322.5(PRPH2):c.312C>T (p.Ile104=)
|
rs200009675
|
0.00004
|
NM_000327.3(ROM1):c.-237G>T
|
rs1029157002
|
0.00004
|
NM_000327.4(ROM1):c.859C>T (p.Arg287Trp)
|
rs768652143
|
0.00004
|
NM_000329.3(RPE65):c.*517G>A
|
rs574708413
|
0.00004
|
NM_000329.3(RPE65):c.106C>T (p.Leu36Phe)
|
rs371586530
|
0.00004
|
NM_000329.3(RPE65):c.1129-5C>T
|
rs368533067
|
0.00004
|
NM_000329.3(RPE65):c.1237C>T (p.Arg413Cys)
|
rs369142161
|
0.00004
|
NM_000329.3(RPE65):c.1449T>C (p.Asp483=)
|
rs201116540
|
0.00004
|
NM_000329.3(RPE65):c.1559T>C (p.Ile520Thr)
|
rs281865291
|
0.00004
|
NM_000329.3(RPE65):c.268G>A (p.Val90Ile)
|
rs370076628
|
0.00004
|
NM_000329.3(RPE65):c.449A>G (p.Asn150Ser)
|
rs891340302
|
0.00004
|
NM_000329.3(RPE65):c.637C>A (p.Gln213Lys)
|
rs777966849
|
0.00004
|
NM_000329.3(RPE65):c.845A>G (p.Asn282Ser)
|
rs144612129
|
0.00004
|
NM_000329.3(RPE65):c.942C>T (p.His314=)
|
rs752875512
|
0.00004
|
NM_000341.4(SLC3A1):c.1125C>T (p.Pro375=)
|
rs760943092
|
0.00004
|
NM_000341.4(SLC3A1):c.1136+9C>T
|
rs749975291
|
0.00004
|
NM_000341.4(SLC3A1):c.1179C>T (p.Thr393=)
|
rs778276427
|
0.00004
|
NM_000341.4(SLC3A1):c.1383T>C (p.Tyr461=)
|
rs769816876
|
0.00004
|
NM_000341.4(SLC3A1):c.1796T>C (p.Phe599Ser)
|
rs146963107
|
0.00004
|
NM_000341.4(SLC3A1):c.17G>A (p.Ser6Asn)
|
rs147004629
|
0.00004
|
NM_000341.4(SLC3A1):c.1870A>G (p.Thr624Ala)
|
rs781253461
|
0.00004
|
NM_000341.4(SLC3A1):c.201G>T (p.Gly67=)
|
rs771021431
|
0.00004
|
NM_000350.3(ABCA4):c.320G>A (p.Arg107Gln)
|
rs759799179
|
0.00004
|
NM_000350.3(ABCA4):c.5560G>T (p.Val1854Leu)
|
rs374687000
|
0.00004
|
NM_000350.3(ABCA4):c.766G>T (p.Val256Leu)
|
rs374851665
|
0.00004
|
NM_000353.3(TAT):c.*713T>G
|
rs188382310
|
0.00004
|
NM_000353.3(TAT):c.-12-4G>A
|
rs372540650
|
0.00004
|
NM_000353.3(TAT):c.578C>A (p.Ser193Tyr)
|
rs142154262
|
0.00004
|
NM_000360.4(TH):c.1317C>T (p.Asp439=)
|
rs375440221
|
0.00004
|
NM_000360.4(TH):c.1382C>T (p.Pro461Leu)
|
rs767635052
|
0.00004
|
NM_000360.4(TH):c.1402G>A (p.Val468Met)
|
rs1800033
|
0.00004
|
NM_000360.4(TH):c.1470C>G (p.Ala490=)
|
rs777477661
|
0.00004
|
NM_000360.4(TH):c.304G>T (p.Val102Leu)
|
rs372077622
|
0.00004
|
NM_000360.4(TH):c.599G>A (p.Arg200His)
|
rs201224335
|
0.00004
|
NM_000360.4(TH):c.653C>T (p.Pro218Leu)
|
rs377729019
|
0.00004
|
NM_000360.4(TH):c.758A>T (p.Glu253Val)
|
rs369397659
|
0.00004
|
NM_000360.4(TH):c.794G>A (p.Arg265Gln)
|
rs199961079
|
0.00004
|
NM_000360.4(TH):c.90+7G>T
|
rs746965239
|
0.00004
|
NM_000360.4(TH):c.91-818G>A
|
rs753403788
|
0.00004
|
NM_000360.4(TH):c.931A>G (p.Thr311Ala)
|
rs1016513333
|
0.00004
|
NM_000360.4(TH):c.950C>G (p.Ala317Gly)
|
rs370710158
|
0.00004
|
NM_000360.4(TH):c.978-3C>A
|
rs754735292
|
0.00004
|
NM_000387.6(SLC25A20):c.-80G>C
|
rs551279923
|
0.00004
|
NM_000387.6(SLC25A20):c.327-6A>G
|
rs113818669
|
0.00004
|
NM_000440.3(PDE6A):c.1349T>C (p.Phe450Ser)
|
rs185588836
|
0.00004
|
NM_000440.3(PDE6A):c.1824C>G (p.Asn608Lys)
|
rs773601046
|
0.00004
|
NM_000440.3(PDE6A):c.1874C>T (p.Ser625Phe)
|
rs201535083
|
0.00004
|
NM_000440.3(PDE6A):c.384C>T (p.Pro128=)
|
rs192618681
|
0.00004
|
NM_000481.4(AMT):c.*407T>C
|
rs761498529
|
0.00004
|
NM_000481.4(AMT):c.*86G>T
|
rs745685639
|
0.00004
|
NM_000481.4(AMT):c.1097C>T (p.Pro366Leu)
|
rs201400089
|
0.00004
|
NM_000481.4(AMT):c.148G>C (p.Val50Leu)
|
rs148917929
|
0.00004
|
NM_000481.4(AMT):c.195C>T (p.His65=)
|
rs145243292
|
0.00004
|
NM_000481.4(AMT):c.203C>T (p.Ser68Leu)
|
rs759015013
|
0.00004
|
NM_000481.4(AMT):c.283G>A (p.Val95Met)
|
rs183396486
|
0.00004
|
NM_000481.4(AMT):c.403A>G (p.Thr135Ala)
|
rs768698117
|
0.00004
|
NM_000481.4(AMT):c.752C>G (p.Pro251Arg)
|
rs770999859
|
0.00004
|
NM_000481.4(AMT):c.944G>A (p.Arg315Lys)
|
rs376366324
|
0.00004
|
NM_000481.4(AMT):c.962T>C (p.Val321Ala)
|
rs766509002
|
0.00004
|
NM_000485.3(APRT):c.175G>A (p.Asp59Asn)
|
rs768268700
|
0.00004
|
NM_000532.5(PCCB):c.1229G>A (p.Arg410Gln)
|
rs778742647
|
0.00004
|
NM_000532.5(PCCB):c.1355A>G (p.Asn452Ser)
|
rs746240889
|
0.00004
|
NM_000532.5(PCCB):c.1514T>C (p.Ile505Thr)
|
rs1353542774
|
0.00004
|
NM_000532.5(PCCB):c.1541G>A (p.Arg514Gln)
|
rs577625696
|
0.00004
|
NM_000532.5(PCCB):c.163A>G (p.Ile55Val)
|
rs561539546
|
0.00004
|
NM_000532.5(PCCB):c.169G>A (p.Ala57Thr)
|
rs371406048
|
0.00004
|
NM_000532.5(PCCB):c.306T>G (p.Phe102Leu)
|
rs770601332
|
0.00004
|
NM_000532.5(PCCB):c.613G>A (p.Val205Ile)
|
rs141956198
|
0.00004
|
NM_000532.5(PCCB):c.764-3T>C
|
rs147939913
|
0.00004
|
NM_000532.5(PCCB):c.950T>A (p.Val317Glu)
|
rs762758029
|
0.00004
|
NM_000539.3(RHO):c.1025C>T (p.Thr342Met)
|
rs183318466
|
0.00004
|
NM_000539.3(RHO):c.759G>T (p.Met253Ile)
|
rs756658659
|
0.00004
|
NM_000554.6(CRX):c.*2589T>C
|
rs530478127
|
0.00004
|
NM_000554.6(CRX):c.332A>G (p.Gln111Arg)
|
rs760741667
|
0.00004
|
NM_000554.6(CRX):c.335C>T (p.Ala112Val)
|
rs61748439
|
0.00004
|
NM_000554.6(CRX):c.491G>A (p.Ser164Asn)
|
rs1039194669
|
0.00004
|
NM_000554.6(CRX):c.619G>A (p.Ala207Thr)
|
rs376982187
|
0.00004
|
NM_000554.6(CRX):c.818C>T (p.Thr273Met)
|
rs281865203
|
0.00004
|
NM_000554.6(CRX):c.83A>G (p.Gln28Arg)
|
rs781577708
|
0.00004
|
NM_000709.4(BCKDHA):c.*213G>A
|
rs766667517
|
0.00004
|
NM_000709.4(BCKDHA):c.1192G>A (p.Glu398Lys)
|
rs201168715
|
0.00004
|
NM_000709.4(BCKDHA):c.349C>T (p.Arg117Cys)
|
rs188135164
|
0.00004
|
NM_000709.4(BCKDHA):c.436G>A (p.Ala146Thr)
|
rs373078413
|
0.00004
|
NM_000709.4(BCKDHA):c.607G>A (p.Val203Ile)
|
rs988176395
|
0.00004
|
NM_000709.4(BCKDHA):c.996-26A>G
|
rs757986569
|
0.00004
|
NM_000717.5(CA4):c.206G>A (p.Arg69His)
|
rs121434552
|
0.00004
|
NM_000836.4(GRIN2D):c.2611T>C (p.Trp871Arg)
|
rs1229429201
|
0.00004
|
NM_000836.4(GRIN2D):c.2749A>G (p.Ser917Gly)
|
rs1273701038
|
0.00004
|
NM_000883.4(IMPDH1):c.*259G>A
|
rs535964010
|
0.00004
|
NM_000883.4(IMPDH1):c.561C>T (p.Asn187=)
|
rs1042250
|
0.00004
|
NM_001002755.4(NFU1):c.629G>T (p.Cys210Phe)
|
rs201634470
|
0.00004
|
NM_001002755.4(NFU1):c.676A>G (p.Asn226Asp)
|
rs377381866
|
0.00004
|
NM_001003841.3(SLC6A19):c.293G>A (p.Arg98Gln)
|
rs369605197
|
0.00004
|
NM_001003841.3(SLC6A19):c.502A>G (p.Arg168Gly)
|
rs140812221
|
0.00004
|
NM_001003841.3(SLC6A19):c.641G>A (p.Arg214His)
|
rs143274116
|
0.00004
|
NM_001003841.3(SLC6A19):c.887+9G>A
|
rs762018842
|
0.00004
|
NM_001010867.4(IBA57):c.341+4A>G
|
rs536036624
|
0.00004
|
NM_001010898.4(SLC6A17):c.754-4G>A
|
rs773243821
|
0.00004
|
NM_001012720.2(RGR):c.259G>A (p.Gly87Ser)
|
rs369457258
|
0.00004
|
NM_001012720.2(RGR):c.34G>A (p.Gly12Arg)
|
rs751874712
|
0.00004
|
NM_001012720.2(RGR):c.630+2T>A
|
rs775282095
|
0.00004
|
NM_001017989.3(OPA3):c.421C>T (p.Gln141Ter)
|
rs374175877
|
0.00004
|
NM_001024845.3(SLC6A9):c.1780G>A (p.Ala594Thr)
|
rs2286247
|
0.00004
|
NM_001024845.3(SLC6A9):c.1811G>T (p.Gly604Val)
|
rs200955940
|
0.00004
|
NM_001024845.3(SLC6A9):c.407C>T (p.Ser136Leu)
|
rs201065535
|
0.00004
|
NM_001024845.3(SLC6A9):c.774T>A (p.Phe258Leu)
|
rs199861598
|
0.00004
|
NM_001029883.3(PCARE):c.*1140T>C
|
rs1006234504
|
0.00004
|
NM_001029883.3(PCARE):c.*1224C>G
|
rs886055916
|
0.00004
|
NM_001029883.3(PCARE):c.*929G>A
|
rs1192177517
|
0.00004
|
NM_001029883.3(PCARE):c.1382T>C (p.Ile461Thr)
|
rs377498611
|
0.00004
|
NM_001029883.3(PCARE):c.3531G>A (p.Arg1177=)
|
rs189904739
|
0.00004
|
NM_001029883.3(PCARE):c.3620C>A (p.Thr1207Asn)
|
rs372010073
|
0.00004
|
NM_001029883.3(PCARE):c.3676G>A (p.Glu1226Lys)
|
rs201781577
|
0.00004
|
NM_001029883.3(PCARE):c.459G>A (p.Thr153=)
|
rs372665350
|
0.00004
|
NM_001031710.3(KLHL7):c.*36A>C
|
rs747687873
|
0.00004
|
NM_001031710.3(KLHL7):c.*376G>A
|
rs556366574
|
0.00004
|
NM_001077620.3(PRCD):c.*1188C>T
|
rs887925408
|
0.00004
|
NM_001077620.3(PRCD):c.*749C>T
|
rs776196684
|
0.00004
|
NM_001077620.3(PRCD):c.*907G>A
|
rs750306157
|
0.00004
|
NM_001077620.3(PRCD):c.-94G>A
|
rs892886625
|
0.00004
|
NM_001080.3(ALDH5A1):c.*1248C>G
|
rs183328132
|
0.00004
|
NM_001080.3(ALDH5A1):c.*1851C>T
|
rs1038337724
|
0.00004
|
NM_001080.3(ALDH5A1):c.*2488G>A
|
rs1002588077
|
0.00004
|
NM_001080.3(ALDH5A1):c.*3277C>T
|
rs886061282
|
0.00004
|
NM_001080.3(ALDH5A1):c.*960C>T
|
rs879652592
|
0.00004
|
NM_001080.3(ALDH5A1):c.*980T>C
|
rs886061274
|
0.00004
|
NM_001080.3(ALDH5A1):c.1186G>A (p.Val396Met)
|
rs199686669
|
0.00004
|
NM_001080.3(ALDH5A1):c.1277G>A (p.Cys426Tyr)
|
rs764512077
|
0.00004
|
NM_001080.3(ALDH5A1):c.1354G>C (p.Glu452Gln)
|
rs781336101
|
0.00004
|
NM_001080.3(ALDH5A1):c.1588G>C (p.Val530Leu)
|
rs1027980375
|
0.00004
|
NM_001080.3(ALDH5A1):c.589G>A (p.Val197Met)
|
rs768219929
|
0.00004
|
NM_001080.3(ALDH5A1):c.794A>C (p.Lys265Thr)
|
rs201146454
|
0.00004
|
NM_001080.3(ALDH5A1):c.924C>T (p.Gly308=)
|
rs188108571
|
0.00004
|
NM_001081.3(CUBN):c.-50G>A
|
rs370711661
|
0.00004
|
NM_001081.4(CUBN):c.*597A>C
|
rs569828144
|
0.00004
|
NM_001081.4(CUBN):c.10327G>A (p.Glu3443Lys)
|
rs776263089
|
0.00004
|
NM_001081.4(CUBN):c.10363-3A>G
|
rs765943248
|
0.00004
|
NM_001081.4(CUBN):c.1719A>T (p.Leu573Phe)
|
rs148313915
|
0.00004
|
NM_001081.4(CUBN):c.2013A>G (p.Pro671=)
|
rs137892259
|
0.00004
|
NM_001081.4(CUBN):c.2203G>A (p.Val735Ile)
|
rs370770104
|
0.00004
|
NM_001081.4(CUBN):c.3692G>A (p.Ser1231Asn)
|
rs150277370
|
0.00004
|
NM_001081.4(CUBN):c.4423A>G (p.Met1475Val)
|
rs1290241240
|
0.00004
|
NM_001081.4(CUBN):c.4621C>T (p.Arg1541Trp)
|
rs146824506
|
0.00004
|
NM_001081.4(CUBN):c.5357A>C (p.Glu1786Ala)
|
rs748558881
|
0.00004
|
NM_001081.4(CUBN):c.535G>A (p.Gly179Arg)
|
rs772400701
|
0.00004
|
NM_001081.4(CUBN):c.5467A>G (p.Ile1823Val)
|
rs946315516
|
0.00004
|
NM_001081.4(CUBN):c.5957A>T (p.Asp1986Val)
|
rs772570411
|
0.00004
|
NM_001081.4(CUBN):c.6849G>A (p.Arg2283=)
|
rs373804380
|
0.00004
|
NM_001081.4(CUBN):c.7001-4G>A
|
rs886046871
|
0.00004
|
NM_001081.4(CUBN):c.7976T>C (p.Val2659Ala)
|
rs1007248288
|
0.00004
|
NM_001081.4(CUBN):c.8599-8C>T
|
rs199774490
|
0.00004
|
NM_001081.4(CUBN):c.8617G>A (p.Glu2873Lys)
|
rs142519035
|
0.00004
|
NM_001081.4(CUBN):c.8701G>A (p.Val2901Ile)
|
rs201093611
|
0.00004
|
NM_001081.4(CUBN):c.9036G>A (p.Pro3012=)
|
rs576867280
|
0.00004
|
NM_001081.4(CUBN):c.9442C>T (p.Arg3148Trp)
|
rs749089689
|
0.00004
|
NM_001081.4(CUBN):c.9525G>A (p.Ser3175=)
|
rs199499934
|
0.00004
|
NM_001081.4(CUBN):c.9714T>C (p.Gly3238=)
|
rs141513734
|
0.00004
|
NM_001102564.3(IFT43):c.587C>T (p.Thr196Met)
|
rs759241440
|
0.00004
|
NM_001127222.2(CACNA1A):c.1306G>A (p.Glu436Lys)
|
rs759782636
|
0.00004
|
NM_001127222.2(CACNA1A):c.1627C>T (p.Arg543Trp)
|
rs1349147232
|
0.00004
|
NM_001127222.2(CACNA1A):c.2881C>T (p.His961Tyr)
|
rs1406066197
|
0.00004
|
NM_001127222.2(CACNA1A):c.2982_2987dup (p.Gly995_Pro996dup)
|
rs995883431
|
0.00004
|
NM_001127222.2(CACNA1A):c.3547G>A (p.Val1183Ile)
|
rs373224251
|
0.00004
|
NM_001127222.2(CACNA1A):c.4292G>A (p.Arg1431Gln)
|
rs369440853
|
0.00004
|
NM_001127222.2(CACNA1A):c.4879G>A (p.Asp1627Asn)
|
rs573209959
|
0.00004
|
NM_001127222.2(CACNA1A):c.5095G>A (p.Ala1699Thr)
|
rs371273055
|
0.00004
|
NM_001127222.2(CACNA1A):c.5401-3C>T
|
rs375947967
|
0.00004
|
NM_001127222.2(CACNA1A):c.5945G>A (p.Arg1982Gln)
|
rs745775887
|
0.00004
|
NM_001127222.2(CACNA1A):c.6572C>T (p.Pro2191Leu)
|
rs377294817
|
0.00004
|
NM_001127222.2(CACNA1A):c.6601C>T (p.Arg2201Trp)
|
rs1032588483
|
0.00004
|
NM_001127222.2(CACNA1A):c.6731G>A (p.Arg2244His)
|
rs1057521565
|
0.00004
|
NM_001127222.2(CACNA1A):c.7441G>A (p.Gly2481Arg)
|
rs765523382
|
0.00004
|
NM_001142800.2(EYS):c.1111C>A (p.Gln371Lys)
|
rs979156982
|
0.00004
|
NM_001142800.2(EYS):c.1124A>C (p.Glu375Ala)
|
rs955372590
|
0.00004
|
NM_001142800.2(EYS):c.116A>G (p.Tyr39Cys)
|
rs45541238
|
0.00004
|
NM_001142800.2(EYS):c.1293A>T (p.Arg431Ser)
|
rs371607669
|
0.00004
|
NM_001142800.2(EYS):c.1462T>G (p.Ser488Ala)
|
rs754245105
|
0.00004
|
NM_001142800.2(EYS):c.1973G>C (p.Ser658Thr)
|
rs1486743340
|
0.00004
|
NM_001142800.2(EYS):c.2222C>T (p.Ala741Val)
|
rs1009558644
|
0.00004
|
NM_001142800.2(EYS):c.2387A>T (p.Glu796Val)
|
rs909973943
|
0.00004
|
NM_001142800.2(EYS):c.2545C>T (p.Arg849Cys)
|
rs369347845
|
0.00004
|
NM_001142800.2(EYS):c.2546G>A (p.Arg849His)
|
rs775080539
|
0.00004
|
NM_001142800.2(EYS):c.3185A>T (p.Glu1062Val)
|
rs888286822
|
0.00004
|
NM_001142800.2(EYS):c.5411T>C (p.Ile1804Thr)
|
rs368097230
|
0.00004
|
NM_001142800.2(EYS):c.5462C>T (p.Thr1821Ile)
|
rs776654329
|
0.00004
|
NM_001142800.2(EYS):c.5609A>G (p.Glu1870Gly)
|
rs1002095739
|
0.00004
|
NM_001142800.2(EYS):c.5775A>G (p.Gln1925=)
|
rs1465801209
|
0.00004
|
NM_001142800.2(EYS):c.5902G>A (p.Gly1968Arg)
|
rs992864714
|
0.00004
|
NM_001142800.2(EYS):c.5949C>T (p.Asn1983=)
|
rs541973291
|
0.00004
|
NM_001142800.2(EYS):c.5950G>A (p.Ala1984Thr)
|
rs574948016
|
0.00004
|
NM_001142800.2(EYS):c.7411+11C>T
|
rs886061668
|
0.00004
|
NM_001142800.2(EYS):c.7492G>C (p.Ala2498Pro)
|
rs1311193836
|
0.00004
|
NM_001142800.2(EYS):c.77G>A (p.Arg26Gln)
|
rs528733427
|
0.00004
|
NM_001142800.2(EYS):c.7949C>T (p.Ser2650Phe)
|
rs374714909
|
0.00004
|
NM_001142800.2(EYS):c.8003G>T (p.Cys2668Phe)
|
rs985211023
|
0.00004
|
NM_001142800.2(EYS):c.8186C>T (p.Ala2729Val)
|
rs377362833
|
0.00004
|
NM_001142800.2(EYS):c.8207C>T (p.Ala2736Val)
|
rs374200609
|
0.00004
|
NM_001142800.2(EYS):c.8834G>A (p.Gly2945Glu)
|
rs1161453292
|
0.00004
|
NM_001142800.2(EYS):c.9202G>C (p.Glu3068Gln)
|
rs1241787129
|
0.00004
|
NM_001142800.2(EYS):c.9263G>A (p.Gly3088Glu)
|
rs913465684
|
0.00004
|
NM_001142800.2(EYS):c.9352T>C (p.Phe3118Leu)
|
rs953147842
|
0.00004
|
NM_001142800.2(EYS):c.9414T>G (p.Asp3138Glu)
|
rs374161234
|
0.00004
|
NM_001195087.2(GGACT):c.*1741A>C
|
rs1046827974
|
0.00004
|
NM_001201543.2(FAM161A):c.*1299T>C
|
rs529941143
|
0.00004
|
NM_001201543.2(FAM161A):c.*1345G>A
|
rs765343041
|
0.00004
|
NM_001201543.2(FAM161A):c.1357G>C (p.Val453Leu)
|
rs973178862
|
0.00004
|
NM_001201543.2(FAM161A):c.1459C>T (p.Arg487Cys)
|
rs780565318
|
0.00004
|
NM_001201543.2(FAM161A):c.1759G>A (p.Glu587Lys)
|
rs868226745
|
0.00004
|
NM_001201543.2(FAM161A):c.1979C>T (p.Thr660Met)
|
rs372371486
|
0.00004
|
NM_001201543.2(FAM161A):c.423-5T>C
|
rs530372842
|
0.00004
|
NM_001243279.3(ACSF3):c.1084A>T (p.Met362Leu)
|
rs560149696
|
0.00004
|
NM_001243279.3(ACSF3):c.116G>A (p.Arg39His)
|
rs144711526
|
0.00004
|
NM_001243279.3(ACSF3):c.1238A>T (p.Lys413Met)
|
rs201003194
|
0.00004
|
NM_001243279.3(ACSF3):c.1242G>A (p.Val414=)
|
rs766713747
|
0.00004
|
NM_001243279.3(ACSF3):c.1251G>T (p.Gly417=)
|
rs3743984
|
0.00004
|
NM_001243279.3(ACSF3):c.1375G>A (p.Val459Met)
|
rs200029061
|
0.00004
|
NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp)
|
rs147538370
|
0.00004
|
NM_001243279.3(ACSF3):c.1553C>A (p.Ala518Asp)
|
rs761852278
|
0.00004
|
NM_001243279.3(ACSF3):c.16G>C (p.Val6Leu)
|
rs776314400
|
0.00004
|
NM_001243279.3(ACSF3):c.1703C>T (p.Ala568Val)
|
rs142633119
|
0.00004
|
NM_001243279.3(ACSF3):c.1721dup (p.His574fs)
|
rs768886326
|
0.00004
|
NM_001243279.3(ACSF3):c.506C>T (p.Pro169Leu)
|
rs377732201
|
0.00004
|
NM_001243279.3(ACSF3):c.666+9C>T
|
rs767663198
|
0.00004
|
NM_001243279.3(ACSF3):c.726C>T (p.Leu242=)
|
rs377354800
|
0.00004
|
NM_001243279.3(ACSF3):c.936C>T (p.His312=)
|
rs202119269
|
0.00004
|
NM_001256789.3(CACNA1F):c.2968G>A (p.Gly990Arg)
|
rs782473510
|
0.00004
|
NM_001258392.3(CLPB):c.1979G>A (p.Arg660His)
|
rs758613799
|
0.00004
|
NM_001258392.3(CLPB):c.628G>A (p.Gly210Arg)
|
rs756161923
|
0.00004
|
NM_001258392.3(CLPB):c.896G>A (p.Arg299His)
|
rs547532550
|
0.00004
|
NM_001271.4(CHD2):c.1172C>G (p.Ser391Cys)
|
rs542243995
|
0.00004
|
NM_001271.4(CHD2):c.4061G>A (p.Arg1354Lys)
|
rs370160870
|
0.00004
|
NM_001271.4(CHD2):c.458A>G (p.Gln153Arg)
|
rs373051961
|
0.00004
|
NM_001271.4(CHD2):c.4688A>G (p.Glu1563Gly)
|
rs774715709
|
0.00004
|
NM_001271.4(CHD2):c.5032C>T (p.Arg1678Trp)
|
rs767024945
|
0.00004
|
NM_001271.4(CHD2):c.5036G>A (p.Arg1679Gln)
|
rs373039868
|
0.00004
|
NM_001271.4(CHD2):c.5047G>A (p.Ala1683Thr)
|
rs747794466
|
0.00004
|
NM_001271.4(CHD2):c.5069G>A (p.Arg1690Gln)
|
rs564787975
|
0.00004
|
NM_001271.4(CHD2):c.5363G>A (p.Arg1788His)
|
rs140365508
|
0.00004
|
NM_001278293.3(ARL6):c.350A>G (p.Asp117Gly)
|
rs370120886
|
0.00004
|
NM_001278293.3(ARL6):c.536-4T>C
|
rs201939836
|
0.00004
|
NM_001297.5(CNGB1):c.*235G>C
|
rs886052190
|
0.00004
|
NM_001297.5(CNGB1):c.*264T>G
|
rs1369634786
|
0.00004
|
NM_001297.5(CNGB1):c.*730C>A
|
rs554017838
|
0.00004
|
NM_001297.5(CNGB1):c.1870G>C (p.Glu624Gln)
|
rs373159617
|
0.00004
|
NM_001297.5(CNGB1):c.3309G>A (p.Ala1103=)
|
rs201319323
|
0.00004
|
NM_001297.5(CNGB1):c.3560G>A (p.Arg1187Gln)
|
rs543712958
|
0.00004
|
NM_001297.5(CNGB1):c.534+1G>A
|
rs200862689
|
0.00004
|
NM_001297.5(CNGB1):c.965C>T (p.Thr322Ile)
|
rs757827406
|
0.00004
|
NM_001352514.2(HLCS):c.*1089G>A
|
rs146991267
|
0.00004
|
NM_001352514.2(HLCS):c.*1094T>C
|
rs780432651
|
0.00004
|
NM_001352514.2(HLCS):c.*1097G>A
|
rs886057070
|
0.00004
|
NM_001352514.2(HLCS):c.2341G>A (p.Asp781Asn)
|
rs149399432
|
0.00004
|
NM_001352514.2(HLCS):c.494-9A>G
|
rs376397597
|
0.00004
|
NM_001352514.2(HLCS):c.574C>G (p.Pro192Ala)
|
rs200950813
|
0.00004
|
NM_001352514.2(HLCS):c.910C>T (p.Leu304Phe)
|
rs763508196
|
0.00004
|
NM_001352514.2(HLCS):c.918A>G (p.Gly306=)
|
rs767988985
|
0.00004
|
NM_001354768.3(NRL):c.*935C>T
|
rs184235122
|
0.00004
|
NM_001367823.1(ARHGEF18):c.1537C>T (p.Arg513Cys)
|
rs140149608
|
0.00004
|
NM_001370658.1(BTD):c.-38G>A
|
rs138473616
|
0.00004
|
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys)
|
rs397514345
|
0.00004
|
NM_001370658.1(BTD):c.1536G>A (p.Thr512=)
|
rs774052068
|
0.00004
|
NM_001370658.1(BTD):c.261T>G (p.Ile87Met)
|
rs1024847163
|
0.00004
|
NM_001370658.1(BTD):c.49G>A (p.Val17Met)
|
rs772369148
|
0.00004
|
NM_001378615.1(CC2D2A):c.298A>C (p.Met100Leu)
|
rs370014549
|
0.00004
|
NM_001379270.1(CNGA1):c.*352C>T
|
rs921230822
|
0.00004
|
NM_001379270.1(CNGA1):c.1499A>G (p.Asp500Gly)
|
rs372770176
|
0.00004
|
NM_001379270.1(CNGA1):c.827G>A (p.Arg276His)
|
rs375412499
|
0.00004
|
NM_001385641.1(SAMD11):c.1585A>G (p.Lys529Glu)
|
rs1028575136
|
0.00004
|
NM_001482.3(GATM):c.1030A>G (p.Ile344Val)
|
rs747608698
|
0.00004
|
NM_001482.3(GATM):c.1043-3T>C
|
rs772985563
|
0.00004
|
NM_001482.3(GATM):c.1106G>A (p.Arg369His)
|
rs747557239
|
0.00004
|
NM_001482.3(GATM):c.1244G>A (p.Arg415Gln)
|
rs374592247
|
0.00004
|
NM_001482.3(GATM):c.338A>G (p.His113Arg)
|
rs910754475
|
0.00004
|
NM_001482.3(GATM):c.990C>G (p.Phe330Leu)
|
rs770808654
|
0.00004
|
NM_001605.3(AARS1):c.959G>A (p.Arg320His)
|
rs557600847
|
0.00004
|
NM_001609.3(ACADSB):c.-39G>A
|
rs886046776
|
0.00004
|
NM_001609.4(ACADSB):c.*1827G>A
|
rs559677030
|
0.00004
|
NM_001609.4(ACADSB):c.*498G>A
|
rs891156805
|
0.00004
|
NM_001609.4(ACADSB):c.-22A>G
|
rs563472823
|
0.00004
|
NM_001609.4(ACADSB):c.1232C>T (p.Thr411Met)
|
rs374629804
|
0.00004
|
NM_001609.4(ACADSB):c.157C>T (p.Pro53Ser)
|
rs150022323
|
0.00004
|
NM_001609.4(ACADSB):c.733C>T (p.His245Tyr)
|
rs761098384
|
0.00004
|
NM_001698.3(AUH):c.374G>A (p.Arg125Gln)
|
rs137939308
|
0.00004
|
NM_001739.2(CA5A):c.164C>T (p.Pro55Leu)
|
rs764182711
|
0.00004
|
NM_001739.2(CA5A):c.271T>C (p.Ser91Pro)
|
rs557776920
|
0.00004
|
NM_001739.2(CA5A):c.38C>T (p.Ser13Phe)
|
rs200005306
|
0.00004
|
NM_001739.2(CA5A):c.544G>A (p.Val182Met)
|
rs149854962
|
0.00004
|
NM_001739.2(CA5A):c.668C>A (p.Thr223Asn)
|
rs144744608
|
0.00004
|
NM_001875.5(CPS1):c.-4C>A
|
rs768210605
|
0.00004
|
NM_001875.5(CPS1):c.2786G>A (p.Arg929Lys)
|
rs748045437
|
0.00004
|
NM_001875.5(CPS1):c.3757-10A>C
|
rs201251176
|
0.00004
|
NM_001875.5(CPS1):c.4404+5A>T
|
rs375785288
|
0.00004
|
NM_001875.5(CPS1):c.712-11C>T
|
rs561995236
|
0.00004
|
NM_001875.5(CPS1):c.785C>T (p.Ala262Val)
|
rs372217508
|
0.00004
|
NM_001876.4(CPT1A):c.-6C>G
|
rs561418145
|
0.00004
|
NM_001876.4(CPT1A):c.1003G>A (p.Val335Ile)
|
rs112620511
|
0.00004
|
NM_001876.4(CPT1A):c.145G>A (p.Gly49Ser)
|
rs552007692
|
0.00004
|
NM_001876.4(CPT1A):c.1874C>T (p.Thr625Met)
|
rs142473901
|
0.00004
|
NM_001876.4(CPT1A):c.2243A>T (p.His748Leu)
|
rs900349852
|
0.00004
|
NM_001876.4(CPT1A):c.517C>T (p.Arg173Cys)
|
rs774388890
|
0.00004
|
NM_001876.4(CPT1A):c.929G>A (p.Arg310Gln)
|
rs536671702
|
0.00004
|
NM_001902.6(CTH):c.*260T>C
|
rs768499542
|
0.00004
|
NM_001902.6(CTH):c.430G>C (p.Glu144Gln)
|
rs773089704
|
0.00004
|
NM_001918.5(DBT):c.*293C>T
|
rs1017324148
|
0.00004
|
NM_001918.5(DBT):c.*3586A>G
|
rs541279304
|
0.00004
|
NM_001918.5(DBT):c.*8080C>G
|
rs1018443361
|
0.00004
|
NM_001918.5(DBT):c.*8226G>T
|
rs560160662
|
0.00004
|
NM_001918.5(DBT):c.1018-550A>G
|
rs796052135
|
0.00004
|
NM_001958.5(EEF1A2):c.725C>T (p.Thr242Met)
|
rs752137872
|
0.00004
|
NM_001985.3(ETFB):c.133G>A (p.Ala45Thr)
|
rs151108898
|
0.00004
|
NM_001985.3(ETFB):c.257G>C (p.Gly86Ala)
|
rs143568332
|
0.00004
|
NM_001985.3(ETFB):c.82G>A (p.Gly28Ser)
|
rs750230877
|
0.00004
|
NM_002098.6(GUCA1B):c.*451A>G
|
rs886061395
|
0.00004
|
NM_002098.6(GUCA1B):c.469G>A (p.Gly157Arg)
|
rs121909124
|
0.00004
|
NM_002108.4(HAL):c.-5G>A
|
rs199707823
|
0.00004
|
NM_002108.4(HAL):c.623G>A (p.Arg208Gln)
|
rs121434328
|
0.00004
|
NM_002108.4(HAL):c.86G>A (p.Arg29Gln)
|
rs146640236
|
0.00004
|
NM_002150.3(HPD):c.544G>A (p.Asp182Asn)
|
rs750446552
|
0.00004
|
NM_002150.3(HPD):c.5C>T (p.Thr2Met)
|
rs774495352
|
0.00004
|
NM_002150.3(HPD):c.61T>C (p.Ser21Pro)
|
rs776782918
|
0.00004
|
NM_002150.3(HPD):c.634G>A (p.Val212Met)
|
rs780501941
|
0.00004
|
NM_002150.3(HPD):c.915G>A (p.Thr305=)
|
rs751753975
|
0.00004
|
NM_002225.5(IVD):c.*338G>A
|
rs879231133
|
0.00004
|
NM_002225.5(IVD):c.*611T>G
|
rs886051130
|
0.00004
|
NM_002225.5(IVD):c.1232G>A (p.Arg411Gln)
|
rs143348838
|
0.00004
|
NM_002225.5(IVD):c.1243G>A (p.Gly415Ser)
|
rs150855952
|
0.00004
|
NM_002225.5(IVD):c.52C>T (p.Arg18Trp)
|
rs375138989
|
0.00004
|
NM_002454.3(MTRR):c.1018T>G (p.Cys340Gly)
|
rs1183944927
|
0.00004
|
NM_002454.3(MTRR):c.1165G>A (p.Val389Met)
|
rs774333382
|
0.00004
|
NM_002454.3(MTRR):c.209G>A (p.Arg70His)
|
rs777202031
|
0.00004
|
NM_002454.3(MTRR):c.692C>T (p.Ser231Leu)
|
rs201557658
|
0.00004
|
NM_002602.4(PDE6G):c.146+4A>G
|
rs373121071
|
0.00004
|
NM_002860.4(ALDH18A1):c.1112G>A (p.Arg371Gln)
|
rs745614904
|
0.00004
|
NM_002860.4(ALDH18A1):c.1351G>A (p.Val451Met)
|
rs111344269
|
0.00004
|
NM_002860.4(ALDH18A1):c.1368C>T (p.Arg456=)
|
rs369979669
|
0.00004
|
NM_002860.4(ALDH18A1):c.1393G>A (p.Glu465Lys)
|
rs757876226
|
0.00004
|
NM_002860.4(ALDH18A1):c.169C>A (p.His57Asn)
|
rs200858692
|
0.00004
|
NM_002860.4(ALDH18A1):c.1800A>G (p.Leu600=)
|
rs141192935
|
0.00004
|
NM_002860.4(ALDH18A1):c.1865G>A (p.Arg622Gln)
|
rs774274057
|
0.00004
|
NM_002860.4(ALDH18A1):c.2177G>A (p.Arg726His)
|
rs773714478
|
0.00004
|
NM_002860.4(ALDH18A1):c.2276C>T (p.Thr759Ile)
|
rs781126562
|
0.00004
|
NM_002860.4(ALDH18A1):c.304-3C>T
|
rs188362786
|
0.00004
|
NM_002860.4(ALDH18A1):c.847C>T (p.Leu283Phe)
|
rs747291828
|
0.00004
|
NM_002860.4(ALDH18A1):c.88C>T (p.His30Tyr)
|
rs113678237
|
0.00004
|
NM_002900.3(RBP3):c.1553A>G (p.Gln518Arg)
|
rs563600593
|
0.00004
|
NM_002900.3(RBP3):c.1581G>A (p.Pro527=)
|
rs782233629
|
0.00004
|
NM_002900.3(RBP3):c.2270T>G (p.Val757Gly)
|
rs17853945
|
0.00004
|
NM_002900.3(RBP3):c.258C>T (p.Arg86=)
|
rs376194840
|
0.00004
|
NM_002900.3(RBP3):c.2616G>A (p.Thr872=)
|
rs570062125
|
0.00004
|
NM_002900.3(RBP3):c.967C>T (p.Arg323Cys)
|
rs373982809
|
0.00004
|
NM_003060.4(SLC22A5):c.*74G>A
|
rs565654675
|
0.00004
|
NM_003060.4(SLC22A5):c.-30G>C
|
rs758034537
|
0.00004
|
NM_003060.4(SLC22A5):c.1007G>A (p.Arg336Gln)
|
rs759529143
|
0.00004
|
NM_003060.4(SLC22A5):c.1017T>C (p.Asn339=)
|
rs758572818
|
0.00004
|
NM_003060.4(SLC22A5):c.1113C>T (p.Asp371=)
|
rs200637508
|
0.00004
|
NM_003060.4(SLC22A5):c.1403C>A (p.Thr468Lys)
|
rs386134221
|
0.00004
|
NM_003060.4(SLC22A5):c.1453G>A (p.Ala485Thr)
|
rs145147616
|
0.00004
|
NM_003060.4(SLC22A5):c.1547C>G (p.Pro516Arg)
|
rs563142575
|
0.00004
|
NM_003060.4(SLC22A5):c.1631A>T (p.Asp544Val)
|
rs764068991
|
0.00004
|
NM_003060.4(SLC22A5):c.498-3C>T
|
rs1483610184
|
0.00004
|
NM_003060.4(SLC22A5):c.769C>T (p.Arg257Trp)
|
rs386134203
|
0.00004
|
NM_003060.4(SLC22A5):c.811G>A (p.Val271Met)
|
rs143013773
|
0.00004
|
NM_003124.5(SPR):c.-4G>C
|
rs778710354
|
0.00004
|
NM_003322.6(TULP1):c.1495+3G>A
|
rs758668547
|
0.00004
|
NM_003322.6(TULP1):c.875G>A (p.Arg292Gln)
|
rs140460892
|
0.00004
|
NM_003611.3(OFD1):c.1490A>C (p.His497Pro)
|
rs772474080
|
0.00004
|
NM_003748.4(ALDH4A1):c.*944C>T
|
rs886045703
|
0.00004
|
NM_003748.4(ALDH4A1):c.1186-11G>A
|
rs375847104
|
0.00004
|
NM_003748.4(ALDH4A1):c.381C>G (p.Ile127Met)
|
rs147348663
|
0.00004
|
NM_003982.4(SLC7A7):c.*235G>C
|
rs1246659736
|
0.00004
|
NM_003982.4(SLC7A7):c.1229G>A (p.Arg410Gln)
|
rs368317701
|
0.00004
|
NM_003982.4(SLC7A7):c.1246-12C>T
|
rs573454071
|
0.00004
|
NM_003982.4(SLC7A7):c.126C>T (p.Gly42=)
|
rs773097626
|
0.00004
|
NM_003982.4(SLC7A7):c.1349C>T (p.Ala450Val)
|
rs141632828
|
0.00004
|
NM_003982.4(SLC7A7):c.241C>T (p.Leu81Phe)
|
rs371860097
|
0.00004
|
NM_003982.4(SLC7A7):c.349T>G (p.Phe117Val)
|
rs748090602
|
0.00004
|
NM_004170.6(SLC1A1):c.*425T>C
|
rs886063968
|
0.00004
|
NM_004170.6(SLC1A1):c.520G>A (p.Asp174Asn)
|
rs754854560
|
0.00004
|
NM_004170.6(SLC1A1):c.583-11T>G
|
rs370778464
|
0.00004
|
NM_004170.6(SLC1A1):c.961G>A (p.Ala321Thr)
|
rs375360666
|
0.00004
|
NM_004172.5(SLC1A3):c.*439T>A
|
rs1742662576
|
0.00004
|
NM_004172.5(SLC1A3):c.329C>T (p.Ala110Val)
|
rs745820508
|
0.00004
|
NM_004453.4(ETFDH):c.1414G>A (p.Gly472Arg)
|
rs746598421
|
0.00004
|
NM_004453.4(ETFDH):c.1480G>C (p.Glu494Gln)
|
rs771456968
|
0.00004
|
NM_004453.4(ETFDH):c.1690+4A>G
|
rs752590057
|
0.00004
|
NM_004453.4(ETFDH):c.488-12A>C
|
rs180889150
|
0.00004
|
NM_004453.4(ETFDH):c.523C>T (p.Arg175Cys)
|
rs762928354
|
0.00004
|
NM_004483.5(GCSH):c.196A>T (p.Ile66Phe)
|
rs368716465
|
0.00004
|
NM_004577.4(PSPH):c.*316C>T
|
rs190483183
|
0.00004
|
NM_004577.4(PSPH):c.*371A>G
|
rs564916020
|
0.00004
|
NM_004577.4(PSPH):c.*649A>C
|
rs766855269
|
0.00004
|
NM_004577.4(PSPH):c.398A>G (p.Asn133Ser)
|
rs148469975
|
0.00004
|
NM_004577.4(PSPH):c.570+5G>C
|
rs373367280
|
0.00004
|
NM_004698.4(PRPF3):c.*64A>G
|
rs886045263
|
0.00004
|
NM_004744.5(LRAT):c.*2417G>A
|
rs569981218
|
0.00004
|
NM_004744.5(LRAT):c.*3081A>C
|
rs779703148
|
0.00004
|
NM_004744.5(LRAT):c.-84C>T
|
rs886059160
|
0.00004
|
NM_004937.2(CTNS):c.-362C>T
|
rs886052862
|
0.00004
|
NM_004937.2(CTNS):c.-364G>T
|
rs886052861
|
0.00004
|
NM_004937.3(CTNS):c.*1680G>A
|
rs572393960
|
0.00004
|
NM_004937.3(CTNS):c.*2477C>G
|
rs781672689
|
0.00004
|
NM_004937.3(CTNS):c.*2628C>T
|
rs886052886
|
0.00004
|
NM_004937.3(CTNS):c.1083G>A (p.Pro361=)
|
rs371189196
|
0.00004
|
NM_004937.3(CTNS):c.262C>A (p.Gln88Lys)
|
rs113875421
|
0.00004
|
NM_004937.3(CTNS):c.407T>G (p.Val136Gly)
|
rs764372178
|
0.00004
|
NM_004937.3(CTNS):c.730G>A (p.Ala244Thr)
|
rs559490847
|
0.00004
|
NM_004975.4(KCNB1):c.2092C>T (p.Arg698Trp)
|
rs779379680
|
0.00004
|
NM_005050.4(ABCD4):c.1237G>A (p.Glu413Lys)
|
rs374984401
|
0.00004
|
NM_005050.4(ABCD4):c.1346C>T (p.Thr449Met)
|
rs969369250
|
0.00004
|
NM_005050.4(ABCD4):c.362G>A (p.Arg121His)
|
rs201744101
|
0.00004
|
NM_005050.4(ABCD4):c.503C>T (p.Pro168Leu)
|
rs747354548
|
0.00004
|
NM_005327.7(HADH):c.*59G>A
|
rs529762487
|
0.00004
|
NM_005327.7(HADH):c.710-14C>T
|
rs185267497
|
0.00004
|
NM_005327.7(HADH):c.820G>A (p.Val274Met)
|
rs543440046
|
0.00004
|
NM_005327.7(HADH):c.907G>A (p.Gly303Ser)
|
rs201772964
|
0.00004
|
NM_005327.7(HADH):c.908G>T (p.Gly303Val)
|
rs575378007
|
0.00004
|
NM_005334.3(HCFC1):c.3730C>T (p.Arg1244Cys)
|
rs782155408
|
0.00004
|
NM_005334.3(HCFC1):c.4574C>T (p.Thr1525Ile)
|
rs782370174
|
0.00004
|
NM_005518.4(HMGCS2):c.1270C>T (p.Arg424Ter)
|
rs137852637
|
0.00004
|
NM_005518.4(HMGCS2):c.1325C>T (p.Thr442Ile)
|
rs765680777
|
0.00004
|
NM_005518.4(HMGCS2):c.35T>A (p.Leu12Gln)
|
rs939049952
|
0.00004
|
NM_005518.4(HMGCS2):c.50C>T (p.Ala17Val)
|
rs587712415
|
0.00004
|
NM_005518.4(HMGCS2):c.595G>A (p.Val199Ile)
|
rs150140061
|
0.00004
|
NM_005589.4(ALDH6A1):c.646G>A (p.Gly216Arg)
|
rs199899407
|
0.00004
|
NM_005629.4(SLC6A8):c.1313A>T (p.Tyr438Phe)
|
rs1403716189
|
0.00004
|
NM_005802.5(TOPORS):c.*308C>T
|
rs984434581
|
0.00004
|
NM_005957.5(MTHFR):c.1004G>A (p.Arg335His)
|
rs543016186
|
0.00004
|
NM_005957.5(MTHFR):c.607G>A (p.Glu203Lys)
|
rs1018203291
|
0.00004
|
NM_005957.5(MTHFR):c.700G>A (p.Asp234Asn)
|
rs45589033
|
0.00004
|
NM_005957.5(MTHFR):c.90G>A (p.Ser30=)
|
rs765167328
|
0.00004
|
NM_006017.3(PROM1):c.*1052G>A
|
rs577484119
|
0.00004
|
NM_006017.3(PROM1):c.*1070A>G
|
rs886059195
|
0.00004
|
NM_006017.3(PROM1):c.1195C>T (p.Arg399Cys)
|
rs770268627
|
0.00004
|
NM_006017.3(PROM1):c.1199T>C (p.Leu400Pro)
|
rs140682455
|
0.00004
|
NM_006017.3(PROM1):c.1407G>A (p.Pro469=)
|
rs763710252
|
0.00004
|
NM_006017.3(PROM1):c.155T>C (p.Ile52Thr)
|
rs778896066
|
0.00004
|
NM_006017.3(PROM1):c.1579-12A>C
|
rs370183490
|
0.00004
|
NM_006017.3(PROM1):c.1632G>T (p.Gly544=)
|
rs753308387
|
0.00004
|
NM_006017.3(PROM1):c.2364C>T (p.Ile788=)
|
rs551849678
|
0.00004
|
NM_006269.2(RP1):c.*78G>T
|
rs551504653
|
0.00004
|
NM_006269.2(RP1):c.-37T>C
|
rs769599875
|
0.00004
|
NM_006269.2(RP1):c.141A>G (p.Gln47=)
|
rs372249141
|
0.00004
|
NM_006269.2(RP1):c.3198G>A (p.Glu1066=)
|
rs759707480
|
0.00004
|
NM_006269.2(RP1):c.3317T>C (p.Val1106Ala)
|
rs1043235694
|
0.00004
|
NM_006269.2(RP1):c.3579C>T (p.His1193=)
|
rs777012140
|
0.00004
|
NM_006269.2(RP1):c.4699A>G (p.Met1567Val)
|
rs374421129
|
0.00004
|
NM_006269.2(RP1):c.5610C>G (p.Ser1870=)
|
rs762475732
|
0.00004
|
NM_006445.4(PRPF8):c.3729C>T (p.Arg1243=)
|
rs370510856
|
0.00004
|
NM_006445.4(PRPF8):c.4792G>A (p.Asp1598Asn)
|
rs759664867
|
0.00004
|
NM_006445.4(PRPF8):c.4947-5C>T
|
rs190909610
|
0.00004
|
NM_006623.4(PHGDH):c.1078+3G>A
|
rs755057495
|
0.00004
|
NM_006623.4(PHGDH):c.1209+3G>C
|
rs771825779
|
0.00004
|
NM_006623.4(PHGDH):c.514A>G (p.Ile172Val)
|
rs749677150
|
0.00004
|
NM_006721.4(ADK):c.*296G>A
|
rs527621742
|
0.00004
|
NM_006859.4(LIAS):c.331T>A (p.Cys111Ser)
|
rs747124026
|
0.00004
|
NM_006859.4(LIAS):c.779G>A (p.Arg260His)
|
rs367701436
|
0.00004
|
NM_006899.5(IDH3B):c.*139G>A
|
rs1047114761
|
0.00004
|
NM_006899.5(IDH3B):c.118-6A>G
|
rs532273295
|
0.00004
|
NM_006899.5(IDH3B):c.426A>G (p.Val142=)
|
rs760619105
|
0.00004
|
NM_006915.3(RP2):c.286G>A (p.Val96Met)
|
rs782229330
|
0.00004
|
NM_012213.3(MLYCD):c.*391A>T
|
rs527889514
|
0.00004
|
NM_012213.3(MLYCD):c.1345G>A (p.Gly449Ser)
|
rs752955481
|
0.00004
|
NM_012213.3(MLYCD):c.515G>A (p.Gly172Glu)
|
rs891464883
|
0.00004
|
NM_012213.3(MLYCD):c.880A>G (p.Thr294Ala)
|
rs200365808
|
0.00004
|
NM_012213.3(MLYCD):c.887A>C (p.Gln296Pro)
|
rs199761233
|
0.00004
|
NM_012463.4(ATP6V0A2):c.*1828C>G
|
rs886049068
|
0.00004
|
NM_012463.4(ATP6V0A2):c.*709C>T
|
rs547048918
|
0.00004
|
NM_012463.4(ATP6V0A2):c.-148C>T
|
rs886049059
|
0.00004
|
NM_012463.4(ATP6V0A2):c.1565C>T (p.Pro522Leu)
|
rs371908109
|
0.00004
|
NM_012463.4(ATP6V0A2):c.2439G>A (p.Ala813=)
|
rs200933894
|
0.00004
|
NM_012463.4(ATP6V0A2):c.26C>T (p.Thr9Ile)
|
rs752689489
|
0.00004
|
NM_012463.4(ATP6V0A2):c.312C>T (p.Leu104=)
|
rs563333869
|
0.00004
|
NM_012463.4(ATP6V0A2):c.791A>G (p.Glu264Gly)
|
rs201247720
|
0.00004
|
NM_012469.4(PRPF6):c.*27G>A
|
rs373166087
|
0.00004
|
NM_012469.4(PRPF6):c.2755A>G (p.Ile919Val)
|
rs149771221
|
0.00004
|
NM_012469.4(PRPF6):c.616-10T>G
|
rs376559986
|
0.00004
|
NM_014014.5(SNRNP200):c.-16C>T
|
rs375009722
|
0.00004
|
NM_014014.5(SNRNP200):c.2005C>T (p.Pro669Ser)
|
rs749791210
|
0.00004
|
NM_014014.5(SNRNP200):c.2716G>A (p.Val906Met)
|
rs769979612
|
0.00004
|
NM_014014.5(SNRNP200):c.4728C>T (p.Ile1576=)
|
rs377641548
|
0.00004
|
NM_014014.5(SNRNP200):c.651C>T (p.Tyr217=)
|
rs147219591
|
0.00004
|
NM_014049.5(ACAD9):c.1258C>T (p.Arg420Cys)
|
rs202147766
|
0.00004
|
NM_014049.5(ACAD9):c.1684G>A (p.Asp562Asn)
|
rs547697115
|
0.00004
|
NM_014049.5(ACAD9):c.778G>A (p.Glu260Lys)
|
rs199504238
|
0.00004
|
NM_014049.5(ACAD9):c.907G>A (p.Gly303Ser)
|
rs143383023
|
0.00004
|
NM_014249.4(NR2E3):c.444T>C (p.Ala148=)
|
rs533192044
|
0.00004
|
NM_014249.4(NR2E3):c.677G>A (p.Arg226His)
|
rs544290323
|
0.00004
|
NM_014251.3(SLC25A13):c.1267G>A (p.Asp423Asn)
|
rs553863381
|
0.00004
|
NM_014251.3(SLC25A13):c.1475G>A (p.Arg492Gln)
|
rs769939259
|
0.00004
|
NM_014251.3(SLC25A13):c.421G>A (p.Glu141Lys)
|
rs1131697
|
0.00004
|
NM_014252.4(SLC25A15):c.*1982A>C
|
rs886050247
|
0.00004
|
NM_014252.4(SLC25A15):c.255C>T (p.Tyr85=)
|
rs536354947
|
0.00004
|
NM_014252.4(SLC25A15):c.334G>A (p.Ala112Thr)
|
rs747998866
|
0.00004
|
NM_014252.4(SLC25A15):c.751A>G (p.Arg251Gly)
|
rs746683247
|
0.00004
|
NM_014270.5(SLC7A9):c.-119G>A
|
rs886054331
|
0.00004
|
NM_014270.5(SLC7A9):c.1446G>A (p.Pro482=)
|
rs144616352
|
0.00004
|
NM_014270.5(SLC7A9):c.780C>T (p.Ile260=)
|
rs886054329
|
0.00004
|
NM_014336.5(AIPL1):c.1112C>G (p.Ala371Gly)
|
rs745586461
|
0.00004
|
NM_014336.5(AIPL1):c.538G>A (p.Val180Ile)
|
rs761059176
|
0.00004
|
NM_014384.3(ACAD8):c.*608G>A
|
rs143912522
|
0.00004
|
NM_014384.3(ACAD8):c.*696A>G
|
rs886048029
|
0.00004
|
NM_014384.3(ACAD8):c.1004A>G (p.Asn335Ser)
|
rs768954546
|
0.00004
|
NM_014384.3(ACAD8):c.110-13A>G
|
rs369626260
|
0.00004
|
NM_014384.3(ACAD8):c.1147G>A (p.Ala383Thr)
|
rs200234092
|
0.00004
|
NM_014384.3(ACAD8):c.409G>A (p.Gly137Arg)
|
rs371449613
|
0.00004
|
NM_014384.3(ACAD8):c.965T>C (p.Met322Thr)
|
rs577976129
|
0.00004
|
NM_014714.4(IFT140):c.1030G>A (p.Asp344Asn)
|
rs201871050
|
0.00004
|
NM_014714.4(IFT140):c.1726C>T (p.Arg576Trp)
|
rs757678246
|
0.00004
|
NM_014714.4(IFT140):c.2119C>T (p.Leu707Phe)
|
rs141172132
|
0.00004
|
NM_014714.4(IFT140):c.2492G>A (p.Arg831His)
|
rs769046641
|
0.00004
|
NM_014714.4(IFT140):c.2501G>A (p.Arg834Gln)
|
rs771116194
|
0.00004
|
NM_014714.4(IFT140):c.2516C>T (p.Ala839Val)
|
rs145609033
|
0.00004
|
NM_014714.4(IFT140):c.2780C>T (p.Ser927Leu)
|
rs2040655109
|
0.00004
|
NM_014714.4(IFT140):c.2917G>A (p.Ala973Thr)
|
rs369493147
|
0.00004
|
NM_014714.4(IFT140):c.3235G>A (p.Val1079Met)
|
rs146537096
|
0.00004
|
NM_014714.4(IFT140):c.3271-5C>T
|
rs368227090
|
0.00004
|
NM_014714.4(IFT140):c.329G>A (p.Arg110His)
|
rs371077545
|
0.00004
|
NM_014714.4(IFT140):c.3881T>C (p.Ile1294Thr)
|
rs539917190
|
0.00004
|
NM_014714.4(IFT140):c.4377_4378insA (p.Asp1460fs)
|
rs753109181
|
0.00004
|
NM_014714.4(IFT140):c.903-5T>G
|
rs900599017
|
0.00004
|
NM_014989.7(RIMS1):c.2758G>A (p.Val920Ile)
|
rs376566413
|
0.00004
|
NM_015506.3(MMACHC):c.296T>C (p.Ile99Thr)
|
rs370229341
|
0.00004
|
NM_015506.3(MMACHC):c.733T>C (p.Ser245Pro)
|
rs779575471
|
0.00004
|
NM_015506.3(MMACHC):c.88T>C (p.Trp30Arg)
|
rs745419717
|
0.00004
|
NM_015509.4(NECAP1):c.492+3G>A
|
rs368777299
|
0.00004
|
NM_015509.4(NECAP1):c.569C>T (p.Pro190Leu)
|
rs764080699
|
0.00004
|
NM_015662.3(IFT172):c.1100G>A (p.Arg367His)
|
rs755263642
|
0.00004
|
NM_015662.3(IFT172):c.1157G>A (p.Arg386Gln)
|
rs137868356
|
0.00004
|
NM_015662.3(IFT172):c.1247A>G (p.Glu416Gly)
|
rs779907319
|
0.00004
|
NM_015662.3(IFT172):c.1513C>T (p.Arg505Trp)
|
rs779152335
|
0.00004
|
NM_015662.3(IFT172):c.1691G>A (p.Arg564Lys)
|
rs148710037
|
0.00004
|
NM_015662.3(IFT172):c.1720G>A (p.Gly574Arg)
|
rs762521619
|
0.00004
|
NM_015662.3(IFT172):c.184-6T>A
|
rs371658303
|
0.00004
|
NM_015662.3(IFT172):c.2014C>T (p.Arg672Trp)
|
rs201921339
|
0.00004
|
NM_015662.3(IFT172):c.2222G>A (p.Arg741His)
|
rs1011923461
|
0.00004
|
NM_015662.3(IFT172):c.2231A>G (p.Tyr744Cys)
|
rs201991482
|
0.00004
|
NM_015662.3(IFT172):c.2443-3C>T
|
rs774328767
|
0.00004
|
NM_015662.3(IFT172):c.2818C>T (p.Arg940Trp)
|
rs760316903
|
0.00004
|
NM_015662.3(IFT172):c.2857C>T (p.Arg953Cys)
|
rs762645007
|
0.00004
|
NM_015662.3(IFT172):c.2943G>A (p.Met981Ile)
|
rs779195226
|
0.00004
|
NM_015662.3(IFT172):c.3268G>A (p.Val1090Met)
|
rs76076247
|
0.00004
|
NM_015662.3(IFT172):c.3566G>A (p.Arg1189His)
|
rs367806691
|
0.00004
|
NM_015662.3(IFT172):c.3713A>C (p.Glu1238Ala)
|
rs553301895
|
0.00004
|
NM_015662.3(IFT172):c.3880C>T (p.Arg1294Cys)
|
rs369191459
|
0.00004
|
NM_015662.3(IFT172):c.4311+5T>C
|
rs756624999
|
0.00004
|
NM_015662.3(IFT172):c.4492G>A (p.Glu1498Lys)
|
rs557292146
|
0.00004
|
NM_015662.3(IFT172):c.4673C>T (p.Ala1558Val)
|
rs757464563
|
0.00004
|
NM_015662.3(IFT172):c.4811C>T (p.Thr1604Ile)
|
rs115716101
|
0.00004
|
NM_015662.3(IFT172):c.4867A>G (p.Thr1623Ala)
|
rs750991615
|
0.00004
|
NM_015662.3(IFT172):c.5000G>A (p.Arg1667His)
|
rs201017771
|
0.00004
|
NM_015662.3(IFT172):c.5104C>T (p.Arg1702Trp)
|
rs560831644
|
0.00004
|
NM_015662.3(IFT172):c.926G>C (p.Gly309Ala)
|
rs749612277
|
0.00004
|
NM_015662.3(IFT172):c.972C>G (p.Asn324Lys)
|
rs370874046
|
0.00004
|
NM_015702.3(MMADHC):c.696+13C>A
|
rs199528296
|
0.00004
|
NM_016247.4(IMPG2):c.*1598C>T
|
rs886057673
|
0.00004
|
NM_016247.4(IMPG2):c.*2042G>C
|
rs1484104523
|
0.00004
|
NM_016247.4(IMPG2):c.*2385T>A
|
rs748729628
|
0.00004
|
NM_016247.4(IMPG2):c.*2966C>T
|
rs950996646
|
0.00004
|
NM_016247.4(IMPG2):c.21T>G (p.Phe7Leu)
|
rs193120038
|
0.00004
|
NM_016247.4(IMPG2):c.3288G>A (p.Val1096=)
|
rs190315698
|
0.00004
|
NM_016373.4(WWOX):c.173-6T>G
|
rs200812468
|
0.00004
|
NM_016373.4(WWOX):c.926G>A (p.Arg309His)
|
rs370792938
|
0.00004
|
NM_016579.4(CD320):c.497G>T (p.Gly166Val)
|
rs769438880
|
0.00004
|
NM_016579.4(CD320):c.760C>T (p.Arg254Ter)
|
rs750760449
|
0.00004
|
NM_016579.4(CD320):c.88G>C (p.Gly30Arg)
|
rs1314256093
|
0.00004
|
NM_017739.4(POMGNT1):c.1927T>G (p.Phe643Val)
|
rs199534074
|
0.00004
|
NM_018368.4(LMBRD1):c.101G>A (p.Arg34His)
|
rs150831620
|
0.00004
|
NM_018368.4(LMBRD1):c.119G>A (p.Arg40Gln)
|
rs777374813
|
0.00004
|
NM_018368.4(LMBRD1):c.1501T>C (p.Phe501Leu)
|
rs776133587
|
0.00004
|
NM_018368.4(LMBRD1):c.1556C>T (p.Ser519Leu)
|
rs373481039
|
0.00004
|
NM_018368.4(LMBRD1):c.694T>A (p.Tyr232Asn)
|
rs370829456
|
0.00004
|
NM_018368.4(LMBRD1):c.73A>G (p.Ile25Val)
|
rs772119224
|
0.00004
|
NM_018418.5(SPATA7):c.1028+5A>G
|
rs368848333
|
0.00004
|
NM_018418.5(SPATA7):c.913-14T>A
|
rs185459765
|
0.00004
|
NM_018706.7(DHTKD1):c.1721C>T (p.Ala574Val)
|
rs757993723
|
0.00004
|
NM_018706.7(DHTKD1):c.2239C>T (p.His747Tyr)
|
rs539692445
|
0.00004
|
NM_018706.7(DHTKD1):c.2332A>G (p.Thr778Ala)
|
rs138115346
|
0.00004
|
NM_018706.7(DHTKD1):c.2629C>G (p.Pro877Ala)
|
rs762777348
|
0.00004
|
NM_018706.7(DHTKD1):c.446G>A (p.Arg149Gln)
|
rs773052090
|
0.00004
|
NM_018706.7(DHTKD1):c.962C>T (p.Pro321Leu)
|
rs755528865
|
0.00004
|
NM_020166.5(MCCC1):c.1282G>A (p.Val428Met)
|
rs150943644
|
0.00004
|
NM_020166.5(MCCC1):c.1331G>A (p.Arg444His)
|
rs768785753
|
0.00004
|
NM_020166.5(MCCC1):c.1701G>A (p.Thr567=)
|
rs377320336
|
0.00004
|
NM_020166.5(MCCC1):c.1768T>C (p.Tyr590His)
|
rs143892743
|
0.00004
|
NM_020166.5(MCCC1):c.623G>A (p.Arg208Gln)
|
rs780352053
|
0.00004
|
NM_020208.4(SLC6A20):c.1051A>C (p.Met351Leu)
|
rs147777980
|
0.00004
|
NM_020208.4(SLC6A20):c.268G>A (p.Ala90Thr)
|
rs565896481
|
0.00004
|
NM_020208.4(SLC6A20):c.473C>T (p.Pro158Leu)
|
rs776558771
|
0.00004
|
NM_020686.6(ABAT):c.*1907A>G
|
rs886052442
|
0.00004
|
NM_020686.6(ABAT):c.*493C>T
|
rs781153961
|
0.00004
|
NM_020686.6(ABAT):c.-127C>G
|
rs937622924
|
0.00004
|
NM_020686.6(ABAT):c.1241C>T (p.Ala414Val)
|
rs771801237
|
0.00004
|
NM_020686.6(ABAT):c.1307G>A (p.Arg436Gln)
|
rs764665721
|
0.00004
|
NM_020686.6(ABAT):c.1387G>A (p.Val463Met)
|
rs757912430
|
0.00004
|
NM_020686.6(ABAT):c.19G>A (p.Ala7Thr)
|
rs141213694
|
0.00004
|
NM_020686.6(ABAT):c.316+3A>G
|
rs376810382
|
0.00004
|
NM_020686.6(ABAT):c.370A>G (p.Met124Val)
|
rs370414705
|
0.00004
|
NM_020686.6(ABAT):c.44A>T (p.Gln15Leu)
|
rs375337638
|
0.00004
|
NM_020686.6(ABAT):c.555G>A (p.Gly185=)
|
rs147765799
|
0.00004
|
NM_020686.6(ABAT):c.928C>T (p.Arg310Trp)
|
rs757076760
|
0.00004
|
NM_022132.5(MCCC2):c.*378T>A
|
rs535221710
|
0.00004
|
NM_022132.5(MCCC2):c.1120G>A (p.Gly374Arg)
|
rs753784414
|
0.00004
|
NM_022132.5(MCCC2):c.1309A>G (p.Ile437Val)
|
rs119103224
|
0.00004
|
NM_022132.5(MCCC2):c.1406G>A (p.Arg469His)
|
rs750965429
|
0.00004
|
NM_022132.5(MCCC2):c.1488+3C>T
|
rs374049769
|
0.00004
|
NM_022132.5(MCCC2):c.1663A>G (p.Lys555Glu)
|
rs1257849672
|
0.00004
|
NM_022132.5(MCCC2):c.1674C>T (p.Phe558=)
|
rs768354167
|
0.00004
|
NM_022132.5(MCCC2):c.1690T>C (p.Ter564Gln)
|
rs751970792
|
0.00004
|
NM_022132.5(MCCC2):c.355A>G (p.Ile119Val)
|
rs770437473
|
0.00004
|
NM_022132.5(MCCC2):c.418G>A (p.Val140Ile)
|
rs553444289
|
0.00004
|
NM_022367.4(SEMA4A):c.*179C>T
|
rs886045367
|
0.00004
|
NM_022367.4(SEMA4A):c.*667C>T
|
rs1014678624
|
0.00004
|
NM_022367.4(SEMA4A):c.1123C>T (p.Arg375Trp)
|
rs201094714
|
0.00004
|
NM_022367.4(SEMA4A):c.1214C>T (p.Thr405Met)
|
rs776231562
|
0.00004
|
NM_022367.4(SEMA4A):c.1481G>A (p.Arg494Gln)
|
rs559896573
|
0.00004
|
NM_022367.4(SEMA4A):c.247G>C (p.Ala83Pro)
|
rs746991043
|
0.00004
|
NM_022367.4(SEMA4A):c.473A>G (p.Asp158Gly)
|
rs200090107
|
0.00004
|
NM_022367.4(SEMA4A):c.944C>T (p.Pro315Leu)
|
rs147148406
|
0.00004
|
NM_025136.4(OPA3):c.*3845C>T
|
rs886054525
|
0.00004
|
NM_025136.4(OPA3):c.*6125G>A
|
rs780617440
|
0.00004
|
NM_025136.4(OPA3):c.*6570G>C
|
rs773109015
|
0.00004
|
NM_025136.4(OPA3):c.*761C>T
|
rs1020788721
|
0.00004
|
NM_025136.4(OPA3):c.*922G>T
|
rs886054535
|
0.00004
|
NM_025136.4(OPA3):c.372C>A (p.Asp124Glu)
|
rs755348694
|
0.00004
|
NM_030813.6(CLPB):c.715T>C (p.Trp239Arg)
|
rs746357833
|
0.00004
|
NM_031885.5(BBS2):c.1046T>G (p.Leu349Trp)
|
rs752280639
|
0.00004
|
NM_031885.5(BBS2):c.2056C>T (p.Arg686Trp)
|
rs372135700
|
0.00004
|
NM_031885.5(BBS2):c.320A>G (p.Asn107Ser)
|
rs1292834581
|
0.00004
|
NM_031885.5(BBS2):c.422A>G (p.Asn141Ser)
|
rs144680278
|
0.00004
|
NM_031885.5(BBS2):c.61A>G (p.Ile21Val)
|
rs1319616745
|
0.00004
|
NM_031885.5(BBS2):c.962C>T (p.Thr321Met)
|
rs758548498
|
0.00004
|
NM_032316.3(NICN1):c.*2328C>T
|
rs386833677
|
0.00004
|
NM_032861.4(SERAC1):c.1640G>A (p.Arg547His)
|
rs756639108
|
0.00004
|
NM_032861.4(SERAC1):c.1763del (p.Val588fs)
|
rs770661156
|
0.00004
|
NM_032861.4(SERAC1):c.413G>A (p.Arg138Gln)
|
rs863224200
|
0.00004
|
NM_032861.4(SERAC1):c.524C>T (p.Pro175Leu)
|
rs536508664
|
0.00004
|
NM_032861.4(SERAC1):c.553G>A (p.Glu185Lys)
|
rs543967244
|
0.00004
|
NM_032861.4(SERAC1):c.674A>G (p.Glu225Gly)
|
rs375757326
|
0.00004
|
NM_032861.4(SERAC1):c.69T>G (p.Ser23Arg)
|
rs754908475
|
0.00004
|
NM_032861.4(SERAC1):c.855A>G (p.Ile285Met)
|
rs745441822
|
0.00004
|
NM_033100.4(CDHR1):c.*2577G>C
|
rs886047349
|
0.00004
|
NM_033100.4(CDHR1):c.*2979C>T
|
rs1212903900
|
0.00004
|
NM_033100.4(CDHR1):c.1848C>T (p.Pro616=)
|
rs147920893
|
0.00004
|
NM_033100.4(CDHR1):c.1867A>G (p.Asn623Asp)
|
rs754717589
|
0.00004
|
NM_033100.4(CDHR1):c.601G>A (p.Glu201Lys)
|
rs200646223
|
0.00004
|
NM_033100.4(CDHR1):c.783+3G>A
|
rs759265185
|
0.00004
|
NM_052845.4(MMAB):c.*2679G>C
|
rs546327751
|
0.00004
|
NM_052845.4(MMAB):c.*588C>T
|
rs1214904926
|
0.00004
|
NM_052845.4(MMAB):c.*815T>C
|
rs776724872
|
0.00004
|
NM_052845.4(MMAB):c.326C>T (p.Thr109Ile)
|
rs762404377
|
0.00004
|
NM_052845.4(MMAB):c.349-9G>A
|
rs372577644
|
0.00004
|
NM_052845.4(MMAB):c.35T>C (p.Leu12Pro)
|
rs533819939
|
0.00004
|
NM_052845.4(MMAB):c.402G>A (p.Ser134=)
|
rs756766385
|
0.00004
|
NM_052845.4(MMAB):c.542C>T (p.Ala181Val)
|
rs764164596
|
0.00004
|
NM_052845.4(MMAB):c.656A>G (p.Tyr219Cys)
|
rs765547005
|
0.00004
|
NM_054012.4(ASS1):c.142A>G (p.Arg48Gly)
|
rs374695792
|
0.00004
|
NM_054012.4(ASS1):c.533C>T (p.Pro178Leu)
|
rs768846877
|
0.00004
|
NM_054012.4(ASS1):c.564C>T (p.Ile188=)
|
rs2297599
|
0.00004
|
NM_054012.4(ASS1):c.566+11C>T
|
rs200527708
|
0.00004
|
NM_054012.4(ASS1):c.796A>G (p.Ile266Val)
|
rs377221825
|
0.00004
|
NM_058179.4(PSAT1):c.*293A>G
|
rs1263262669
|
0.00004
|
NM_058179.4(PSAT1):c.1031C>G (p.Ser344Cys)
|
rs370557155
|
0.00004
|
NM_058179.4(PSAT1):c.231A>T (p.Gly77=)
|
rs762436279
|
0.00004
|
NM_058179.4(PSAT1):c.725C>T (p.Thr242Met)
|
rs149101687
|
0.00004
|
NM_058179.4(PSAT1):c.794C>T (p.Ala265Val)
|
rs376602543
|
0.00004
|
NM_058179.4(PSAT1):c.845T>C (p.Ile282Thr)
|
rs774644137
|
0.00004
|
NM_144596.4(TTC8):c.800T>A (p.Val267Asp)
|
rs770333148
|
0.00004
|
NM_144631.6(ZNF513):c.-96G>A
|
rs982892164
|
0.00004
|
NM_144631.6(ZNF513):c.1432G>A (p.Ala478Thr)
|
rs143734828
|
0.00004
|
NM_144631.6(ZNF513):c.537C>T (p.Arg179=)
|
rs374192541
|
0.00004
|
NM_144631.6(ZNF513):c.740G>A (p.Arg247Gln)
|
rs139008988
|
0.00004
|
NM_145261.4(DNAJC19):c.280+1G>A
|
rs774006022
|
0.00004
|
NM_152419.3(HGSNAT):c.1003C>T (p.Leu335Phe)
|
rs369280586
|
0.00004
|
NM_152419.3(HGSNAT):c.1250+6C>T
|
rs762012939
|
0.00004
|
NM_152419.3(HGSNAT):c.1793A>G (p.Lys598Arg)
|
rs553588867
|
0.00004
|
NM_152419.3(HGSNAT):c.1805A>G (p.Asn602Ser)
|
rs754415813
|
0.00004
|
NM_152419.3(HGSNAT):c.259G>A (p.Val87Ile)
|
rs374287774
|
0.00004
|
NM_152419.3(HGSNAT):c.461C>G (p.Ala154Gly)
|
rs373688314
|
0.00004
|
NM_152419.3(HGSNAT):c.826A>G (p.Thr276Ala)
|
rs201952563
|
0.00004
|
NM_152419.3(HGSNAT):c.827C>G (p.Thr276Arg)
|
rs751331792
|
0.00004
|
NM_152419.3(HGSNAT):c.995A>G (p.Asn332Ser)
|
rs374892647
|
0.00004
|
NM_152443.3(RDH12):c.*310T>C
|
rs780725917
|
0.00004
|
NM_152542.5(PPM1K):c.1075T>A (p.Phe359Ile)
|
rs149239581
|
0.00004
|
NM_152542.5(PPM1K):c.526C>T (p.Arg176Cys)
|
rs150935940
|
0.00004
|
NM_152542.5(PPM1K):c.527G>A (p.Arg176His)
|
rs555916014
|
0.00004
|
NM_152542.5(PPM1K):c.77G>A (p.Arg26His)
|
rs369916009
|
0.00004
|
NM_153006.3(NAGS):c.429G>A (p.Val143=)
|
rs199976538
|
0.00004
|
NM_153006.3(NAGS):c.534G>A (p.Pro178=)
|
rs539061299
|
0.00004
|
NM_153006.3(NAGS):c.8C>T (p.Thr3Met)
|
rs958791517
|
0.00004
|
NM_153006.3(NAGS):c.940G>A (p.Ala314Thr)
|
rs186127828
|
0.00004
|
NM_172250.3(MMAA):c.*1227A>T
|
rs375194713
|
0.00004
|
NM_172250.3(MMAA):c.*1284G>A
|
rs564976817
|
0.00004
|
NM_172250.3(MMAA):c.*2903C>T
|
rs886059110
|
0.00004
|
NM_172250.3(MMAA):c.*3703T>C
|
rs760429837
|
0.00004
|
NM_172250.3(MMAA):c.*4324G>A
|
rs910534961
|
0.00004
|
NM_172250.3(MMAA):c.*890G>A
|
rs771012374
|
0.00004
|
NM_172250.3(MMAA):c.-4G>A
|
rs374109118
|
0.00004
|
NM_172250.3(MMAA):c.440-4G>A
|
rs780768376
|
0.00004
|
NM_172250.3(MMAA):c.610A>G (p.Met204Val)
|
rs370375675
|
0.00004
|
NM_172250.3(MMAA):c.65G>A (p.Arg22Gln)
|
rs375682603
|
0.00004
|
NM_177550.5(SLC13A5):c.1006G>A (p.Gly336Ser)
|
rs1187250417
|
0.00004
|
NM_177550.5(SLC13A5):c.1156+20C>T
|
rs368150158
|
0.00004
|
NM_177550.5(SLC13A5):c.1441C>T (p.Arg481Cys)
|
rs555139145
|
0.00004
|
NM_177550.5(SLC13A5):c.1582A>G (p.Thr528Ala)
|
rs569395560
|
0.00004
|
NM_177550.5(SLC13A5):c.286G>A (p.Val96Met)
|
rs770640829
|
0.00004
|
NM_177550.5(SLC13A5):c.320A>G (p.Lys107Arg)
|
rs376995742
|
0.00004
|
NM_177550.5(SLC13A5):c.338C>T (p.Thr113Met)
|
rs759069275
|
0.00004
|
NM_177550.5(SLC13A5):c.391G>A (p.Val131Ile)
|
rs140389204
|
0.00004
|
NM_177550.5(SLC13A5):c.441G>A (p.Met147Ile)
|
rs764711084
|
0.00004
|
NM_177550.5(SLC13A5):c.505G>A (p.Gly169Ser)
|
rs199620361
|
0.00004
|
NM_177550.5(SLC13A5):c.920G>A (p.Arg307Gln)
|
rs377021126
|
0.00004
|
NM_177972.3(TUB):c.1498G>A (p.Asp500Asn)
|
rs368907491
|
0.00004
|
NM_183050.4(BCKDHB):c.434C>T (p.Ala145Val)
|
rs574122134
|
0.00004
|
NM_183050.4(BCKDHB):c.727C>T (p.Leu243Phe)
|
rs398124591
|
0.00004
|
NM_201253.3(CRB1):c.*289A>G
|
rs780654592
|
0.00004
|
NM_201253.3(CRB1):c.1015G>A (p.Asp339Asn)
|
rs1199892094
|
0.00004
|
NM_201253.3(CRB1):c.1577G>A (p.Arg526Gln)
|
rs531283439
|
0.00004
|
NM_201253.3(CRB1):c.2035C>G (p.Gln679Glu)
|
rs62636286
|
0.00004
|
NM_201253.3(CRB1):c.2231G>A (p.Arg744Gln)
|
rs530046423
|
0.00004
|
NM_201253.3(CRB1):c.2419C>T (p.Leu807=)
|
rs371089348
|
0.00004
|
NM_201253.3(CRB1):c.269G>A (p.Gly90Glu)
|
rs368816923
|
0.00004
|
NM_201253.3(CRB1):c.2995C>T (p.Leu999Phe)
|
rs983449864
|
0.00004
|
NM_201253.3(CRB1):c.3202A>G (p.Thr1068Ala)
|
rs886045787
|
0.00004
|
NM_201253.3(CRB1):c.4157A>G (p.Lys1386Arg)
|
rs776191501
|
0.00004
|
NM_201253.3(CRB1):c.4169G>A (p.Arg1390Gln)
|
rs764581378
|
0.00004
|
NM_201548.5(CERKL):c.*306C>T
|
rs748428407
|
0.00004
|
NM_201548.5(CERKL):c.250T>C (p.Tyr84His)
|
rs1343928865
|
0.00004
|
NM_201548.5(CERKL):c.677+610A>G
|
rs116063501
|
0.00004
|
NM_201548.5(CERKL):c.830A>G (p.Asn277Ser)
|
rs200369970
|
0.00004
|
NM_201548.5(CERKL):c.950G>A (p.Arg317His)
|
rs150587104
|
0.00004
|
NM_201548.5(CERKL):c.953T>C (p.Phe318Ser)
|
rs745341953
|
0.00004
|
NM_203288.2(RP9):c.*82A>T
|
rs943352965
|
0.00004
|
NM_205861.3(DHDDS):c.*1464C>T
|
rs766594382
|
0.00004
|
NM_205861.3(DHDDS):c.*404C>G
|
rs572009346
|
0.00004
|
NM_206933.4(USH2A):c.-305C>G
|
rs1430551833
|
0.00004
|
NM_206933.4(USH2A):c.-355C>G
|
rs868097748
|
0.00004
|
NM_206933.4(USH2A):c.10904C>A (p.Thr3635Asn)
|
rs727505166
|
0.00004
|
NM_206933.4(USH2A):c.10931C>T (p.Thr3644Met)
|
rs185823130
|
0.00004
|
NM_206933.4(USH2A):c.11134G>A (p.Val3712Ile)
|
rs201951918
|
0.00004
|
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys)
|
rs368675850
|
0.00004
|
NM_206933.4(USH2A):c.12275G>A (p.Arg4092Lys)
|
rs727505170
|
0.00004
|
NM_206933.4(USH2A):c.12344G>A (p.Arg4115His)
|
rs775075094
|
0.00004
|
NM_206933.4(USH2A):c.126C>T (p.Asn42=)
|
rs774473277
|
0.00004
|
NM_206933.4(USH2A):c.13484G>A (p.Arg4495His)
|
rs550096037
|
0.00004
|
NM_206933.4(USH2A):c.1388A>G (p.Tyr463Cys)
|
rs139997881
|
0.00004
|
NM_206933.4(USH2A):c.14369A>C (p.Gln4790Pro)
|
rs149807281
|
0.00004
|
NM_206933.4(USH2A):c.14570G>C (p.Gly4857Ala)
|
rs749889050
|
0.00004
|
NM_206933.4(USH2A):c.15281C>T (p.Pro5094Leu)
|
rs727503714
|
0.00004
|
NM_206933.4(USH2A):c.1530C>T (p.Asp510=)
|
rs200940197
|
0.00004
|
NM_206933.4(USH2A):c.15343A>G (p.Ile5115Val)
|
rs753175395
|
0.00004
|
NM_206933.4(USH2A):c.1601A>G (p.Tyr534Cys)
|
rs570446209
|
0.00004
|
NM_206933.4(USH2A):c.1704C>T (p.Tyr568=)
|
rs766038321
|
0.00004
|
NM_206933.4(USH2A):c.1877G>A (p.Arg626Gln)
|
rs192524347
|
0.00004
|
NM_206933.4(USH2A):c.2167+15A>G
|
rs779599960
|
0.00004
|
NM_206933.4(USH2A):c.2726C>A (p.Pro909His)
|
rs752748453
|
0.00004
|
NM_206933.4(USH2A):c.2777G>A (p.Arg926His)
|
rs146916397
|
0.00004
|
NM_206933.4(USH2A):c.286A>G (p.Thr96Ala)
|
rs557642490
|
0.00004
|
NM_206933.4(USH2A):c.3780T>C (p.His1260=)
|
rs759937489
|
0.00004
|
NM_206933.4(USH2A):c.3937A>G (p.Asn1313Asp)
|
rs540537272
|
0.00004
|
NM_206933.4(USH2A):c.4304A>C (p.Lys1435Thr)
|
rs752059469
|
0.00004
|
NM_206933.4(USH2A):c.4562G>A (p.Arg1521His)
|
rs770394440
|
0.00004
|
NM_206933.4(USH2A):c.5410A>G (p.Ile1804Val)
|
rs201804063
|
0.00004
|
NM_206933.4(USH2A):c.6397T>C (p.Trp2133Arg)
|
rs370643158
|
0.00004
|
NM_206933.4(USH2A):c.6602A>T (p.Gln2201Leu)
|
rs143107117
|
0.00004
|
NM_206933.4(USH2A):c.7494T>A (p.Ser2498Arg)
|
rs760977747
|
0.00004
|
NM_206933.4(USH2A):c.7951A>G (p.Asn2651Asp)
|
rs141134147
|
0.00004
|
NM_206933.4(USH2A):c.8146G>A (p.Glu2716Lys)
|
rs531822235
|
0.00004
|
NM_206933.4(USH2A):c.8935G>A (p.Val2979Ile)
|
rs769479181
|
0.00004
|
NM_206933.4(USH2A):c.9240C>A (p.Phe3080Leu)
|
rs397518044
|
0.00004
|
NM_206933.4(USH2A):c.9258G>T (p.Gln3086His)
|
rs1380261595
|
0.00004
|
NM_206933.4(USH2A):c.997T>C (p.Ser333Pro)
|
rs368986242
|
0.00004
|
NM_212552.3(BOLA3):c.317A>G (p.Lys106Arg)
|
rs376876176
|
0.00004
|
NC_000022.11:g.40345484A>C
|
rs1386684080
|
0.00003
|
NC_000022.11:g.40345635T>C
|
rs1380960379
|
0.00003
|
NC_000022.11:g.40346063C>T
|
rs927109163
|
0.00003
|
NC_000022.11:g.40346104C>G
|
rs1293829192
|
0.00003
|
NC_000022.11:g.40346323C>A
|
rs756420450
|
0.00003
|
NC_000022.11:g.40346401G>T
|
rs1001687278
|
0.00003
|
NM_000016.5(ACADM):c.-92A>G
|
rs567983446
|
0.00003
|
NM_000016.6(ACADM):c.216+5G>T
|
rs528788578
|
0.00003
|
NM_000016.6(ACADM):c.286G>C (p.Gly96Arg)
|
rs886042055
|
0.00003
|
NM_000016.6(ACADM):c.407C>T (p.Ala136Val)
|
rs750792245
|
0.00003
|
NM_000016.6(ACADM):c.558T>A (p.Asn186Lys)
|
rs754359356
|
0.00003
|
NM_000017.4(ACADS):c.1057T>C (p.Ser353Pro)
|
rs796051904
|
0.00003
|
NM_000017.4(ACADS):c.1086+5G>A
|
rs776623770
|
0.00003
|
NM_000017.4(ACADS):c.1156C>T (p.Arg386Cys)
|
rs537072819
|
0.00003
|
NM_000017.4(ACADS):c.508G>T (p.Ala170Ser)
|
rs765604622
|
0.00003
|
NM_000017.4(ACADS):c.700C>T (p.Arg234Trp)
|
rs532174593
|
0.00003
|
NM_000017.4(ACADS):c.730G>A (p.Glu244Lys)
|
rs551883820
|
0.00003
|
NM_000017.4(ACADS):c.815G>A (p.Arg272His)
|
rs374726386
|
0.00003
|
NM_000017.4(ACADS):c.991G>A (p.Ala331Thr)
|
rs1267288663
|
0.00003
|
NM_000018.4(ACADVL):c.1076C>T (p.Ala359Val)
|
rs539029862
|
0.00003
|
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys)
|
rs771874163
|
0.00003
|
NM_000018.4(ACADVL):c.1197G>C (p.Met399Ile)
|
rs767552054
|
0.00003
|
NM_000018.4(ACADVL):c.1226C>T (p.Thr409Met)
|
rs113994169
|
0.00003
|
NM_000018.4(ACADVL):c.1246G>T (p.Ala416Ser)
|
rs118204018
|
0.00003
|
NM_000018.4(ACADVL):c.1605+7G>A
|
rs572010910
|
0.00003
|
NM_000018.4(ACADVL):c.1711G>A (p.Gly571Arg)
|
rs398123085
|
0.00003
|
NM_000018.4(ACADVL):c.1748C>G (p.Ser583Trp)
|
rs1085307648
|
0.00003
|
NM_000018.4(ACADVL):c.1838G>A (p.Arg613Gln)
|
rs534647044
|
0.00003
|
NM_000018.4(ACADVL):c.1858G>A (p.Ala620Thr)
|
rs965557488
|
0.00003
|
NM_000018.4(ACADVL):c.1931G>A (p.Arg644Gln)
|
rs774762384
|
0.00003
|
NM_000018.4(ACADVL):c.277+6G>T
|
rs776422793
|
0.00003
|
NM_000018.4(ACADVL):c.278T>C (p.Val93Ala)
|
rs886053373
|
0.00003
|
NM_000018.4(ACADVL):c.298C>G (p.Gln100Glu)
|
rs750675692
|
0.00003
|
NM_000018.4(ACADVL):c.343-14T>C
|
rs200368309
|
0.00003
|
NM_000018.4(ACADVL):c.343G>C (p.Glu115Gln)
|
rs370146676
|
0.00003
|
NM_000018.4(ACADVL):c.467G>C (p.Cys156Ser)
|
rs139973845
|
0.00003
|
NM_000018.4(ACADVL):c.521T>C (p.Val174Ala)
|
rs372684079
|
0.00003
|
NM_000018.4(ACADVL):c.992A>C (p.Lys331Thr)
|
rs727503792
|
0.00003
|
NM_000019.4(ACAT1):c.1229C>T (p.Ala410Val)
|
rs767412638
|
0.00003
|
NM_000019.4(ACAT1):c.709C>A (p.Pro237Thr)
|
rs754478568
|
0.00003
|
NM_000019.4(ACAT1):c.721A>G (p.Thr241Ala)
|
rs752592672
|
0.00003
|
NM_000019.4(ACAT1):c.967A>G (p.Ile323Val)
|
rs1282394804
|
0.00003
|
NM_000026.4(ADSL):c.-11G>T
|
rs200713871
|
0.00003
|
NM_000026.4(ADSL):c.-12C>T
|
rs775388314
|
0.00003
|
NM_000026.4(ADSL):c.11G>T (p.Gly4Val)
|
rs766546584
|
0.00003
|
NM_000026.4(ADSL):c.153G>A (p.Gln51=)
|
rs1214023402
|
0.00003
|
NM_000026.4(ADSL):c.224A>G (p.Lys75Arg)
|
rs772345709
|
0.00003
|
NM_000026.4(ADSL):c.254G>A (p.Arg85Gln)
|
rs540648461
|
0.00003
|
NM_000026.4(ADSL):c.40C>T (p.Arg14Cys)
|
rs766465184
|
0.00003
|
NM_000026.4(ADSL):c.451A>G (p.Ser151Gly)
|
rs147194356
|
0.00003
|
NM_000026.4(ADSL):c.763C>T (p.Leu255=)
|
rs771049726
|
0.00003
|
NM_000026.4(ADSL):c.896T>C (p.Met299Thr)
|
rs1364564756
|
0.00003
|
NM_000045.4(ARG1):c.245G>A (p.Gly82Asp)
|
rs774273532
|
0.00003
|
NM_000045.4(ARG1):c.825A>G (p.Ile275Met)
|
rs781780752
|
0.00003
|
NM_000048.4(ASL):c.1345G>A (p.Asp449Asn)
|
rs781031440
|
0.00003
|
NM_000048.4(ASL):c.1367G>A (p.Arg456Gln)
|
rs767271619
|
0.00003
|
NM_000048.4(ASL):c.155C>T (p.Ala52Val)
|
rs886062405
|
0.00003
|
NM_000048.4(ASL):c.209T>C (p.Val70Ala)
|
rs1027739421
|
0.00003
|
NM_000048.4(ASL):c.284G>A (p.Arg95His)
|
rs150244667
|
0.00003
|
NM_000048.4(ASL):c.577C>T (p.Arg193Trp)
|
rs1428029508
|
0.00003
|
NM_000048.4(ASL):c.748A>G (p.Met250Val)
|
rs374908945
|
0.00003
|
NM_000048.4(ASL):c.924C>T (p.Ala308=)
|
rs747831550
|
0.00003
|
NM_000048.4(ASL):c.938C>A (p.Thr313Asn)
|
rs1410031530
|
0.00003
|
NM_000071.3(CBS):c.1009A>G (p.Met337Val)
|
rs372822486
|
0.00003
|
NM_000071.3(CBS):c.1106G>A (p.Arg369His)
|
rs11700812
|
0.00003
|
NM_000071.3(CBS):c.1205T>C (p.Leu402Pro)
|
rs371214833
|
0.00003
|
NM_000071.3(CBS):c.1280C>T (p.Pro427Leu)
|
rs863223434
|
0.00003
|
NM_000071.3(CBS):c.1316G>A (p.Arg439Gln)
|
rs756467921
|
0.00003
|
NM_000071.3(CBS):c.1484C>T (p.Thr495Met)
|
rs772344567
|
0.00003
|
NM_000071.3(CBS):c.152G>A (p.Arg51Lys)
|
rs370983323
|
0.00003
|
NM_000071.3(CBS):c.1594G>A (p.Gly532Arg)
|
rs748953468
|
0.00003
|
NM_000071.3(CBS):c.209C>T (p.Pro70Leu)
|
rs2229413
|
0.00003
|
NM_000071.3(CBS):c.296T>C (p.Phe99Ser)
|
rs112029370
|
0.00003
|
NM_000071.3(CBS):c.412C>T (p.Pro138Ser)
|
rs765702034
|
0.00003
|
NM_000071.3(CBS):c.538G>A (p.Val180Met)
|
rs759402521
|
0.00003
|
NM_000071.3(CBS):c.588G>C (p.Arg196Ser)
|
rs555751528
|
0.00003
|
NM_000071.3(CBS):c.616G>A (p.Val206Met)
|
rs369220569
|
0.00003
|
NM_000071.3(CBS):c.791T>C (p.Ile264Thr)
|
rs760212248
|
0.00003
|
NM_000071.3(CBS):c.924C>T (p.Tyr308=)
|
rs149809170
|
0.00003
|
NM_000108.5(DLD):c.161A>G (p.Tyr54Cys)
|
rs763303046
|
0.00003
|
NM_000108.5(DLD):c.92C>G (p.Pro31Arg)
|
rs776872575
|
0.00003
|
NM_000116.5(TAFAZZIN):c.27C>G (p.Phe9Leu)
|
rs1223065368
|
0.00003
|
NM_000116.5(TAFAZZIN):c.674C>T (p.Pro225Leu)
|
rs375151766
|
0.00003
|
NM_000116.5(TAFAZZIN):c.758G>A (p.Arg253Gln)
|
rs782653725
|
0.00003
|
NM_000116.5(TAFAZZIN):c.763G>A (p.Glu255Lys)
|
rs782498694
|
0.00003
|
NM_000126.4(ETFA):c.197A>G (p.Asp66Gly)
|
rs201888260
|
0.00003
|
NM_000126.4(ETFA):c.215G>A (p.Gly72Asp)
|
rs758004001
|
0.00003
|
NM_000126.4(ETFA):c.720A>G (p.Gln240=)
|
rs756864231
|
0.00003
|
NM_000126.4(ETFA):c.728C>G (p.Ala243Gly)
|
rs202121622
|
0.00003
|
NM_000126.4(ETFA):c.883-3C>T
|
rs772701864
|
0.00003
|
NM_000137.4(FAH):c.1022G>A (p.Arg341Gln)
|
rs903038605
|
0.00003
|
NM_000137.4(FAH):c.1029G>A (p.Gly343=)
|
rs772334351
|
0.00003
|
NM_000137.4(FAH):c.10A>C (p.Ile4Leu)
|
rs754336457
|
0.00003
|
NM_000137.4(FAH):c.1195G>C (p.Asp399His)
|
rs1449927772
|
0.00003
|
NM_000137.4(FAH):c.82-3T>C
|
rs368921640
|
0.00003
|
NM_000137.4(FAH):c.880A>C (p.Thr294Pro)
|
rs370634385
|
0.00003
|
NM_000156.6(GAMT):c.*116C>T
|
rs902990738
|
0.00003
|
NM_000156.6(GAMT):c.*292C>T
|
rs908073212
|
0.00003
|
NM_000156.6(GAMT):c.167C>T (p.Ala56Val)
|
rs575350720
|
0.00003
|
NM_000156.6(GAMT):c.20C>A (p.Thr7Asn)
|
rs761687649
|
0.00003
|
NM_000156.6(GAMT):c.211A>G (p.Met71Val)
|
rs372027428
|
0.00003
|
NM_000156.6(GAMT):c.292C>T (p.Arg98Trp)
|
rs765070826
|
0.00003
|
NM_000156.6(GAMT):c.298C>T (p.Arg100Trp)
|
rs552210450
|
0.00003
|
NM_000156.6(GAMT):c.42G>C (p.Glu14Asp)
|
rs775018136
|
0.00003
|
NM_000156.6(GAMT):c.460-7T>G
|
rs1200384623
|
0.00003
|
NM_000156.6(GAMT):c.471T>G (p.Phe157Leu)
|
rs372260609
|
0.00003
|
NM_000156.6(GAMT):c.509A>C (p.Asn170Thr)
|
rs202199674
|
0.00003
|
NM_000156.6(GAMT):c.608G>A (p.Arg203Gln)
|
rs376499506
|
0.00003
|
NM_000156.6(GAMT):c.622C>T (p.Arg208Cys)
|
rs778279369
|
0.00003
|
NM_000156.6(GAMT):c.623G>A (p.Arg208His)
|
rs767887772
|
0.00003
|
NM_000156.6(GAMT):c.650C>T (p.Pro217Leu)
|
rs139890971
|
0.00003
|
NM_000156.6(GAMT):c.68C>T (p.Ala23Val)
|
rs796052530
|
0.00003
|
NM_000159.4(GCDH):c.1144G>A (p.Ala382Thr)
|
rs567564095
|
0.00003
|
NM_000159.4(GCDH):c.1148G>A (p.Arg383His)
|
rs764608975
|
0.00003
|
NM_000159.4(GCDH):c.38G>A (p.Arg13His)
|
rs550100640
|
0.00003
|
NM_000159.4(GCDH):c.876C>T (p.Asn292=)
|
rs1438245420
|
0.00003
|
NM_000159.4(GCDH):c.893C>T (p.Ala298Val)
|
rs764993096
|
0.00003
|
NM_000161.3(GCH1):c.*507C>G
|
rs886050547
|
0.00003
|
NM_000161.3(GCH1):c.509+8T>A
|
rs753570450
|
0.00003
|
NM_000170.3(GLDC):c.*345G>T
|
rs1383579539
|
0.00003
|
NM_000170.3(GLDC):c.13G>C (p.Ala5Pro)
|
rs1358259956
|
0.00003
|
NM_000170.3(GLDC):c.1453T>C (p.Leu485=)
|
rs760562478
|
0.00003
|
NM_000170.3(GLDC):c.1751C>T (p.Pro584Leu)
|
rs779138019
|
0.00003
|
NM_000170.3(GLDC):c.183C>A (p.Asp61Glu)
|
rs375497905
|
0.00003
|
NM_000170.3(GLDC):c.1916G>A (p.Gly639Glu)
|
rs1488935367
|
0.00003
|
NM_000170.3(GLDC):c.1925C>T (p.Thr642Met)
|
rs141153261
|
0.00003
|
NM_000170.3(GLDC):c.2041C>T (p.Leu681Phe)
|
rs753457618
|
0.00003
|
NM_000170.3(GLDC):c.2137G>A (p.Val713Met)
|
rs912659426
|
0.00003
|
NM_000170.3(GLDC):c.227G>C (p.Arg76Thr)
|
rs143358660
|
0.00003
|
NM_000170.3(GLDC):c.2305C>A (p.Pro769Thr)
|
rs751114163
|
0.00003
|
NM_000170.3(GLDC):c.2369G>A (p.Arg790Gln)
|
rs187209250
|
0.00003
|
NM_000170.3(GLDC):c.2387C>T (p.Pro796Leu)
|
rs975247366
|
0.00003
|
NM_000170.3(GLDC):c.2416G>A (p.Gly806Ser)
|
rs138797822
|
0.00003
|
NM_000170.3(GLDC):c.262G>A (p.Asp88Asn)
|
rs770826242
|
0.00003
|
NM_000170.3(GLDC):c.2926G>A (p.Val976Met)
|
rs150624881
|
0.00003
|
NM_000182.5(HADHA):c.*182C>T
|
rs1013194171
|
0.00003
|
NM_000182.5(HADHA):c.1174G>A (p.Ala392Thr)
|
rs534553558
|
0.00003
|
NM_000182.5(HADHA):c.1453G>T (p.Ala485Ser)
|
rs958717402
|
0.00003
|
NM_000182.5(HADHA):c.41C>T (p.Ser14Phe)
|
rs765213828
|
0.00003
|
NM_000187.3(HGD):c.-446G>T
|
rs541656880
|
0.00003
|
NM_000187.4(HGD):c.-100G>A
|
rs547960368
|
0.00003
|
NM_000187.4(HGD):c.709C>T (p.Arg237Cys)
|
rs1171237852
|
0.00003
|
NM_000187.4(HGD):c.765T>C (p.Ala255=)
|
rs747764475
|
0.00003
|
NM_000187.4(HGD):c.920G>A (p.Arg307His)
|
rs752719362
|
0.00003
|
NM_000187.4(HGD):c.990G>T (p.Arg330Ser)
|
rs120074171
|
0.00003
|
NM_000191.3(HMGCL):c.349-3C>A
|
rs777476731
|
0.00003
|
NM_000191.3(HMGCL):c.651G>T (p.Met217Ile)
|
rs746968587
|
0.00003
|
NM_000191.3(HMGCL):c.94C>T (p.Arg32Trp)
|
rs759745527
|
0.00003
|
NM_000254.3(MTR):c.1943G>A (p.Arg648His)
|
rs751565093
|
0.00003
|
NM_000254.3(MTR):c.2321C>T (p.Thr774Ile)
|
rs201755946
|
0.00003
|
NM_000254.3(MTR):c.2684A>C (p.Gln895Pro)
|
rs146569329
|
0.00003
|
NM_000254.3(MTR):c.3172C>T (p.Pro1058Ser)
|
rs780045701
|
0.00003
|
NM_000254.3(MTR):c.899C>T (p.Thr300Met)
|
rs201871910
|
0.00003
|
NM_000255.4(MMUT):c.*1214C>A
|
rs886061551
|
0.00003
|
NM_000255.4(MMUT):c.*691T>C
|
rs886061554
|
0.00003
|
NM_000255.4(MMUT):c.1094A>G (p.Asn365Ser)
|
rs1196513317
|
0.00003
|
NM_000255.4(MMUT):c.1208G>A (p.Arg403Gln)
|
rs774457503
|
0.00003
|
NM_000255.4(MMUT):c.1614C>T (p.Thr538=)
|
rs766999822
|
0.00003
|
NM_000255.4(MMUT):c.38C>T (p.Pro13Leu)
|
rs1057518979
|
0.00003
|
NM_000255.4(MMUT):c.598A>G (p.Ile200Val)
|
rs772104231
|
0.00003
|
NM_000260.4(MYO7A):c.5929C>T (p.Arg1977Trp)
|
rs781586223
|
0.00003
|
NM_000273.3(GPR143):c.191C>T (p.Pro64Leu)
|
rs936878316
|
0.00003
|
NM_000274.4(OAT):c.1187G>A (p.Arg396Gln)
|
rs776819570
|
0.00003
|
NM_000274.4(OAT):c.314T>C (p.Val105Ala)
|
rs199957428
|
0.00003
|
NM_000274.4(OAT):c.650G>A (p.Arg217His)
|
rs774853325
|
0.00003
|
NM_000274.4(OAT):c.901-3C>T
|
rs371484835
|
0.00003
|
NM_000276.4(OCRL):c.40A>G (p.Thr14Ala)
|
rs371099243
|
0.00003
|
NM_000277.3(PAH):c.-66_-65del
|
rs997821067
|
0.00003
|
NM_000277.3(PAH):c.1066T>C (p.Tyr356His)
|
rs62507320
|
0.00003
|
NM_000277.3(PAH):c.157C>T (p.Arg53Cys)
|
rs199475619
|
0.00003
|
NM_000277.3(PAH):c.71A>G (p.Tyr24Cys)
|
rs539994406
|
0.00003
|
NM_000277.3(PAH):c.937G>A (p.Ala313Thr)
|
rs62642912
|
0.00003
|
NM_000277.3(PAH):c.965C>G (p.Ala322Gly)
|
rs62514958
|
0.00003
|
NM_000282.4(PCCA):c.130T>C (p.Cys44Arg)
|
rs905391740
|
0.00003
|
NM_000282.4(PCCA):c.1342A>G (p.Met448Val)
|
rs767060690
|
0.00003
|
NM_000282.4(PCCA):c.1457G>A (p.Arg486Gln)
|
rs183239835
|
0.00003
|
NM_000282.4(PCCA):c.1730A>G (p.Asn577Ser)
|
rs887791543
|
0.00003
|
NM_000282.4(PCCA):c.1929C>T (p.Ala643=)
|
rs772945583
|
0.00003
|
NM_000282.4(PCCA):c.1933G>A (p.Glu645Lys)
|
rs145428347
|
0.00003
|
NM_000282.4(PCCA):c.1987C>T (p.Arg663Cys)
|
rs200710812
|
0.00003
|
NM_000282.4(PCCA):c.2133_2135del (p.Cys712del)
|
rs1316778844
|
0.00003
|
NM_000282.4(PCCA):c.2T>C (p.Met1Thr)
|
rs372093520
|
0.00003
|
NM_000282.4(PCCA):c.65C>T (p.Pro22Leu)
|
rs773397570
|
0.00003
|
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys)
|
rs774738181
|
0.00003
|
NM_000282.4(PCCA):c.803G>A (p.Arg268His)
|
rs368047060
|
0.00003
|
NM_000283.4(PDE6B):c.1107+3A>G
|
rs370898371
|
0.00003
|
NM_000283.4(PDE6B):c.132C>G (p.Cys44Trp)
|
rs199974771
|
0.00003
|
NM_000283.4(PDE6B):c.1426G>A (p.Glu476Lys)
|
rs746783836
|
0.00003
|
NM_000283.4(PDE6B):c.285C>T (p.Phe95=)
|
rs746211772
|
0.00003
|
NM_000283.4(PDE6B):c.299G>A (p.Arg100His)
|
rs555600300
|
0.00003
|
NM_000283.4(PDE6B):c.387G>T (p.Glu129Asp)
|
rs752303143
|
0.00003
|
NM_000317.3(PTS):c.151C>T (p.His51Tyr)
|
rs780284884
|
0.00003
|
NM_000317.3(PTS):c.338A>G (p.Tyr113Cys)
|
rs762894736
|
0.00003
|
NM_000317.3(PTS):c.370G>T (p.Val124Leu)
|
rs150726932
|
0.00003
|
NM_000320.3(QDPR):c.118G>A (p.Val40Ile)
|
rs769586091
|
0.00003
|
NM_000320.3(QDPR):c.176C>T (p.Ser59Leu)
|
rs201345615
|
0.00003
|
NM_000320.3(QDPR):c.359A>G (p.His120Arg)
|
rs148369556
|
0.00003
|
NM_000320.3(QDPR):c.35G>A (p.Arg12Gln)
|
rs780483113
|
0.00003
|
NM_000320.3(QDPR):c.409G>A (p.Ala137Thr)
|
rs778631854
|
0.00003
|
NM_000320.3(QDPR):c.49G>C (p.Gly17Arg)
|
rs757483045
|
0.00003
|
NM_000322.5(PRPH2):c.*692C>T
|
rs949736334
|
0.00003
|
NM_000322.5(PRPH2):c.-59G>A
|
rs886061405
|
0.00003
|
NM_000322.5(PRPH2):c.380A>G (p.Glu127Gly)
|
rs543703718
|
0.00003
|
NM_000327.4(ROM1):c.180dup (p.Val61fs)
|
rs748976215
|
0.00003
|
NM_000327.4(ROM1):c.230G>A (p.Gly77Glu)
|
rs1036187889
|
0.00003
|
NM_000327.4(ROM1):c.502T>C (p.Cys168Arg)
|
rs201202592
|
0.00003
|
NM_000327.4(ROM1):c.70C>T (p.Leu24Phe)
|
rs766769824
|
0.00003
|
NM_000327.4(ROM1):c.926A>C (p.Tyr309Ser)
|
rs374968800
|
0.00003
|
NM_000329.3(RPE65):c.1198A>T (p.Thr400Ser)
|
rs1645826225
|
0.00003
|
NM_000329.3(RPE65):c.1338+8A>G
|
rs777211540
|
0.00003
|
NM_000329.3(RPE65):c.1366G>C (p.Glu456Gln)
|
rs755805126
|
0.00003
|
NM_000329.3(RPE65):c.1387C>A (p.Pro463Thr)
|
rs375358477
|
0.00003
|
NM_000329.3(RPE65):c.224G>A (p.Gly75Glu)
|
rs201062742
|
0.00003
|
NM_000329.3(RPE65):c.524A>G (p.Asn175Ser)
|
rs771863086
|
0.00003
|
NM_000329.3(RPE65):c.614A>G (p.Asn205Ser)
|
rs61752887
|
0.00003
|
NM_000329.3(RPE65):c.842C>G (p.Ser281Cys)
|
rs753656894
|
0.00003
|
NM_000341.4(SLC3A1):c.1074C>T (p.His358=)
|
rs754041697
|
0.00003
|
NM_000341.4(SLC3A1):c.1334T>C (p.Ile445Thr)
|
rs187962930
|
0.00003
|
NM_000341.4(SLC3A1):c.1510C>T (p.Arg504Cys)
|
rs201143887
|
0.00003
|
NM_000341.4(SLC3A1):c.1826A>G (p.Asn609Ser)
|
rs200592320
|
0.00003
|
NM_000341.4(SLC3A1):c.769A>G (p.Ser257Gly)
|
rs746309755
|
0.00003
|
NM_000350.3(ABCA4):c.370C>T (p.Arg124Cys)
|
rs138359497
|
0.00003
|
NM_000353.3(TAT):c.*252C>G
|
rs886052269
|
0.00003
|
NM_000353.3(TAT):c.*81G>A
|
rs886052272
|
0.00003
|
NM_000353.3(TAT):c.339C>T (p.Ile113=)
|
rs764951157
|
0.00003
|
NM_000360.4(TH):c.1102A>T (p.Thr368Ser)
|
rs537643329
|
0.00003
|
NM_000360.4(TH):c.1237G>A (p.Asp413Asn)
|
rs201996748
|
0.00003
|
NM_000360.4(TH):c.1297G>A (p.Val433Met)
|
rs772641972
|
0.00003
|
NM_000360.4(TH):c.1400A>G (p.Asp467Gly)
|
rs771351747
|
0.00003
|
NM_000360.4(TH):c.171C>T (p.Ala57=)
|
rs771152796
|
0.00003
|
NM_000360.4(TH):c.225G>A (p.Glu75=)
|
rs558597025
|
0.00003
|
NM_000360.4(TH):c.365G>A (p.Arg122Gln)
|
rs201093528
|
0.00003
|
NM_000360.4(TH):c.649G>A (p.Asp217Asn)
|
rs371488205
|
0.00003
|
NM_000360.4(TH):c.779G>T (p.Arg260Leu)
|
rs372142970
|
0.00003
|
NM_000360.4(TH):c.90+13G>A
|
rs77140743
|
0.00003
|
NM_000360.4(TH):c.91-853C>T
|
rs756331878
|
0.00003
|
NM_000372.5(TYR):c.875C>T (p.Thr292Met)
|
rs61754372
|
0.00003
|
NM_000387.6(SLC25A20):c.-66T>C
|
rs886058659
|
0.00003
|
NM_000387.6(SLC25A20):c.-9G>C
|
rs770135555
|
0.00003
|
NM_000387.6(SLC25A20):c.425C>G (p.Ala142Gly)
|
rs759262977
|
0.00003
|
NM_000387.6(SLC25A20):c.668A>G (p.Asn223Ser)
|
rs374770429
|
0.00003
|
NM_000440.3(PDE6A):c.*1335C>T
|
rs879722083
|
0.00003
|
NM_000440.3(PDE6A):c.1255C>T (p.Leu419Phe)
|
rs141370975
|
0.00003
|
NM_000440.3(PDE6A):c.397G>A (p.Val133Ile)
|
rs768596256
|
0.00003
|
NM_000440.3(PDE6A):c.758C>T (p.Thr253Met)
|
rs778857421
|
0.00003
|
NM_000481.4(AMT):c.1082C>T (p.Ala361Val)
|
rs757293245
|
0.00003
|
NM_000481.4(AMT):c.1202C>A (p.Thr401Asn)
|
rs752952950
|
0.00003
|
NM_000481.4(AMT):c.583G>A (p.Val195Met)
|
rs372496075
|
0.00003
|
NM_000481.4(AMT):c.953G>A (p.Arg318Gln)
|
rs755780814
|
0.00003
|
NM_000485.3(APRT):c.*122C>T
|
rs769271336
|
0.00003
|
NM_000485.3(APRT):c.*210A>G
|
rs1184700495
|
0.00003
|
NM_000485.3(APRT):c.250G>A (p.Val84Met)
|
rs200392753
|
0.00003
|
NM_000485.3(APRT):c.460G>A (p.Val154Met)
|
rs141669365
|
0.00003
|
NM_000531.6(OTC):c.*276A>G
|
rs1016109235
|
0.00003
|
NM_000532.5(PCCB):c.1312G>T (p.Ala438Ser)
|
rs752758930
|
0.00003
|
NM_000532.5(PCCB):c.1511A>C (p.Asp504Ala)
|
rs1027171385
|
0.00003
|
NM_000532.5(PCCB):c.167A>G (p.Asp56Gly)
|
rs1422527852
|
0.00003
|
NM_000532.5(PCCB):c.475A>G (p.Asn159Asp)
|
rs373189621
|
0.00003
|
NM_000532.5(PCCB):c.862G>C (p.Val288Leu)
|
rs201984177
|
0.00003
|
NM_000532.5(PCCB):c.865C>T (p.Arg289Cys)
|
rs771935604
|
0.00003
|
NM_000532.5(PCCB):c.890G>A (p.Arg297His)
|
rs147379583
|
0.00003
|
NM_000532.5(PCCB):c.988T>G (p.Phe330Val)
|
rs748708704
|
0.00003
|
NM_000539.3(RHO):c.*115G>A
|
rs886057969
|
0.00003
|
NM_000539.3(RHO):c.*1294A>G
|
rs1047324551
|
0.00003
|
NM_000539.3(RHO):c.*440C>G
|
rs886057971
|
0.00003
|
NM_000539.3(RHO):c.440G>A (p.Arg147His)
|
rs746468201
|
0.00003
|
NM_000541.5(SAG):c.269C>G (p.Ser90Cys)
|
rs531041701
|
0.00003
|
NM_000554.6(CRX):c.*132G>A
|
rs886054548
|
0.00003
|
NM_000554.6(CRX):c.*2573C>T
|
rs886054559
|
0.00003
|
NM_000554.6(CRX):c.*2889G>A
|
rs886054561
|
0.00003
|
NM_000554.6(CRX):c.460A>G (p.Thr154Ala)
|
rs763651232
|
0.00003
|
NM_000554.6(CRX):c.464C>T (p.Thr155Met)
|
rs753466818
|
0.00003
|
NM_000554.6(CRX):c.649G>A (p.Gly217Ser)
|
rs146869548
|
0.00003
|
NM_000666.3(ACY1):c.1058G>A (p.Arg353His)
|
rs779815701
|
0.00003
|
NM_000687.4(AHCY):c.*621T>C
|
rs886056634
|
0.00003
|
NM_000687.4(AHCY):c.257A>G (p.Asp86Gly)
|
rs773162208
|
0.00003
|
NM_000687.4(AHCY):c.29-4G>A
|
rs774846394
|
0.00003
|
NM_000687.4(AHCY):c.445+11C>T
|
rs375253690
|
0.00003
|
NM_000687.4(AHCY):c.559-13C>G
|
rs763399683
|
0.00003
|
NM_000709.4(BCKDHA):c.108+12G>A
|
rs780834493
|
0.00003
|
NM_000709.4(BCKDHA):c.288+9C>T
|
rs398123497
|
0.00003
|
NM_000709.4(BCKDHA):c.330A>T (p.Thr110=)
|
rs201366184
|
0.00003
|
NM_000709.4(BCKDHA):c.500G>A (p.Arg167Gln)
|
rs377517768
|
0.00003
|
NM_000709.4(BCKDHA):c.633G>A (p.Thr211=)
|
rs750729027
|
0.00003
|
NM_000709.4(BCKDHA):c.726T>C (p.Ser242=)
|
rs750023394
|
0.00003
|
NM_000709.4(BCKDHA):c.819G>T (p.Thr273=)
|
rs201991385
|
0.00003
|
NM_000709.4(BCKDHA):c.890G>A (p.Arg297His)
|
rs200137189
|
0.00003
|
NM_000709.4(BCKDHA):c.891C>T (p.Arg297=)
|
rs187669174
|
0.00003
|
NM_000709.4(BCKDHA):c.910T>C (p.Phe304Leu)
|
rs398123511
|
0.00003
|
NM_000709.4(BCKDHA):c.946C>T (p.Arg316Trp)
|
rs758442329
|
0.00003
|
NM_000709.4(BCKDHA):c.976A>G (p.Ile326Val)
|
rs781688443
|
0.00003
|
NM_000836.4(GRIN2D):c.2308G>A (p.Asp770Asn)
|
rs775962298
|
0.00003
|
NM_000836.4(GRIN2D):c.3253G>A (p.Ala1085Thr)
|
rs1971327716
|
0.00003
|
NM_000883.4(IMPDH1):c.*321G>T
|
rs571536404
|
0.00003
|
NM_000883.4(IMPDH1):c.-59G>A
|
rs886061985
|
0.00003
|
NM_000883.4(IMPDH1):c.737G>A (p.Arg246Gln)
|
rs201071873
|
0.00003
|
NM_001002755.4(NFU1):c.371A>G (p.Glu124Gly)
|
rs1235176737
|
0.00003
|
NM_001002755.4(NFU1):c.702G>A (p.Glu234=)
|
rs561482249
|
0.00003
|
NM_001003841.3(SLC6A19):c.292C>T (p.Arg98Trp)
|
rs777046481
|
0.00003
|
NM_001010867.4(IBA57):c.304G>C (p.Val102Leu)
|
rs753218907
|
0.00003
|
NM_001010867.4(IBA57):c.305T>G (p.Val102Gly)
|
rs759005478
|
0.00003
|
NM_001010898.4(SLC6A17):c.1957G>A (p.Val653Met)
|
rs757150136
|
0.00003
|
NM_001012720.2(RGR):c.*220C>G
|
rs886047352
|
0.00003
|
NM_001012720.2(RGR):c.460G>A (p.Asp154Asn)
|
rs750768609
|
0.00003
|
NM_001012720.2(RGR):c.612G>A (p.Gly204=)
|
rs749839913
|
0.00003
|
NM_001012720.2(RGR):c.700G>A (p.Ala234Thr)
|
rs377043137
|
0.00003
|
NM_001017989.3(OPA3):c.217G>T (p.Glu73Ter)
|
rs759861826
|
0.00003
|
NM_001024845.3(SLC6A9):c.1613C>T (p.Ala538Val)
|
rs756505420
|
0.00003
|
NM_001029883.3(PCARE):c.*395T>G
|
rs941674134
|
0.00003
|
NM_001029883.3(PCARE):c.1740G>A (p.Thr580=)
|
rs546110503
|
0.00003
|
NM_001029883.3(PCARE):c.2287A>G (p.Ile763Val)
|
rs886055921
|
0.00003
|
NM_001029883.3(PCARE):c.944G>A (p.Arg315Lys)
|
rs756484547
|
0.00003
|
NM_001031710.3(KLHL7):c.*232A>G
|
rs886062219
|
0.00003
|
NM_001077620.3(PRCD):c.*1010G>A
|
rs971307074
|
0.00003
|
NM_001077620.3(PRCD):c.*578C>G
|
rs756335948
|
0.00003
|
NM_001080.3(ALDH5A1):c.*1674C>T
|
rs184664416
|
0.00003
|
NM_001080.3(ALDH5A1):c.*2414G>A
|
rs886061278
|
0.00003
|
NM_001080.3(ALDH5A1):c.1051G>T (p.Gly351Cys)
|
rs772638789
|
0.00003
|
NM_001080.3(ALDH5A1):c.115C>G (p.Pro39Ala)
|
rs1293911941
|
0.00003
|
NM_001080.3(ALDH5A1):c.1264C>T (p.Pro422Ser)
|
rs752944770
|
0.00003
|
NM_001080.3(ALDH5A1):c.1374C>T (p.Ile458=)
|
rs775722631
|
0.00003
|
NM_001080.3(ALDH5A1):c.1480G>A (p.Glu494Lys)
|
rs374232934
|
0.00003
|
NM_001080.3(ALDH5A1):c.1535T>G (p.Leu512Arg)
|
rs752005255
|
0.00003
|
NM_001080.3(ALDH5A1):c.1541G>A (p.Arg514Gln)
|
rs1232923691
|
0.00003
|
NM_001080.3(ALDH5A1):c.1558G>A (p.Gly520Ser)
|
rs1179619995
|
0.00003
|
NM_001080.3(ALDH5A1):c.1606T>C (p.Ter536Gln)
|
rs201484501
|
0.00003
|
NM_001080.3(ALDH5A1):c.176T>C (p.Leu59Pro)
|
rs1001493071
|
0.00003
|
NM_001080.3(ALDH5A1):c.296G>C (p.Arg99Pro)
|
rs1161280166
|
0.00003
|
NM_001080.3(ALDH5A1):c.533T>C (p.Ile178Thr)
|
rs375773360
|
0.00003
|
NM_001080.3(ALDH5A1):c.563C>T (p.Ala188Val)
|
rs779139147
|
0.00003
|
NM_001080.3(ALDH5A1):c.583A>G (p.Ile195Val)
|
rs759237061
|
0.00003
|
NM_001080.3(ALDH5A1):c.584T>C (p.Ile195Thr)
|
rs923917352
|
0.00003
|
NM_001080.3(ALDH5A1):c.651C>T (p.Ala217=)
|
rs4646837
|
0.00003
|
NM_001080.3(ALDH5A1):c.663C>T (p.Ala221=)
|
rs760461822
|
0.00003
|
NM_001080.3(ALDH5A1):c.664G>A (p.Gly222Ser)
|
rs766251446
|
0.00003
|
NM_001081.4(CUBN):c.*15G>A
|
rs751434522
|
0.00003
|
NM_001081.4(CUBN):c.*297C>T
|
rs886046857
|
0.00003
|
NM_001081.4(CUBN):c.*373G>T
|
rs780298022
|
0.00003
|
NM_001081.4(CUBN):c.*669C>T
|
rs992917155
|
0.00003
|
NM_001081.4(CUBN):c.*81C>A
|
rs886046861
|
0.00003
|
NM_001081.4(CUBN):c.1653C>T (p.Ser551=)
|
rs372499101
|
0.00003
|
NM_001081.4(CUBN):c.2318C>G (p.Thr773Ser)
|
rs200658389
|
0.00003
|
NM_001081.4(CUBN):c.2452G>A (p.Gly818Arg)
|
rs141274853
|
0.00003
|
NM_001081.4(CUBN):c.3745C>T (p.Arg1249Cys)
|
rs368224687
|
0.00003
|
NM_001081.4(CUBN):c.387+13C>T
|
rs766779196
|
0.00003
|
NM_001081.4(CUBN):c.6180G>A (p.Gly2060=)
|
rs534571792
|
0.00003
|
NM_001081.4(CUBN):c.6277G>A (p.Gly2093Ser)
|
rs759351780
|
0.00003
|
NM_001081.4(CUBN):c.6962G>T (p.Ser2321Ile)
|
rs374628341
|
0.00003
|
NM_001081.4(CUBN):c.736G>A (p.Val246Ile)
|
rs760990753
|
0.00003
|
NM_001081.4(CUBN):c.7403A>G (p.Tyr2468Cys)
|
rs757744293
|
0.00003
|
NM_001081.4(CUBN):c.8016C>T (p.Asn2672=)
|
rs151303316
|
0.00003
|
NM_001081.4(CUBN):c.8502G>A (p.Thr2834=)
|
rs749545791
|
0.00003
|
NM_001081.4(CUBN):c.8971A>T (p.Met2991Leu)
|
rs147160034
|
0.00003
|
NM_001127222.2(CACNA1A):c.1534G>A (p.Glu512Lys)
|
rs375210532
|
0.00003
|
NM_001127222.2(CACNA1A):c.2263A>G (p.Asn755Asp)
|
rs762466161
|
0.00003
|
NM_001127222.2(CACNA1A):c.2879C>T (p.Ala960Val)
|
rs762396014
|
0.00003
|
NM_001127222.2(CACNA1A):c.3533T>A (p.Leu1178His)
|
rs761259850
|
0.00003
|
NM_001127222.2(CACNA1A):c.35A>G (p.Tyr12Cys)
|
rs994265107
|
0.00003
|
NM_001127222.2(CACNA1A):c.3784G>A (p.Ala1262Thr)
|
rs776503550
|
0.00003
|
NM_001127222.2(CACNA1A):c.4411G>A (p.Ala1471Thr)
|
rs1187916307
|
0.00003
|
NM_001127222.2(CACNA1A):c.4609G>A (p.Ala1537Thr)
|
rs773209223
|
0.00003
|
NM_001127222.2(CACNA1A):c.5400+3G>A
|
rs1034627495
|
0.00003
|
NM_001127222.2(CACNA1A):c.5453G>A (p.Arg1818Gln)
|
rs745900417
|
0.00003
|
NM_001127222.2(CACNA1A):c.5810C>T (p.Thr1937Met)
|
rs771104002
|
0.00003
|
NM_001127222.2(CACNA1A):c.5932G>A (p.Glu1978Lys)
|
rs1266642291
|
0.00003
|
NM_001127222.2(CACNA1A):c.6083C>G (p.Pro2028Arg)
|
rs370345937
|
0.00003
|
NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met)
|
rs563345694
|
0.00003
|
NM_001127222.2(CACNA1A):c.6193G>A (p.Val2065Met)
|
rs776203885
|
0.00003
|
NM_001127222.2(CACNA1A):c.6614G>A (p.Arg2205Gln)
|
rs756685971
|
0.00003
|
NM_001127222.2(CACNA1A):c.6644A>C (p.His2215Pro)
|
rs1233829101
|
0.00003
|
NM_001127222.2(CACNA1A):c.6669C>A (p.Pro2223=)
|
rs2304094
|
0.00003
|
NM_001127222.2(CACNA1A):c.745A>G (p.Met249Val)
|
rs1005732031
|
0.00003
|
NM_001142800.2(EYS):c.1154G>A (p.Cys385Tyr)
|
rs775400880
|
0.00003
|
NM_001142800.2(EYS):c.1483G>C (p.Gly495Arg)
|
rs771221172
|
0.00003
|
NM_001142800.2(EYS):c.1652G>A (p.Arg551Gln)
|
rs773906269
|
0.00003
|
NM_001142800.2(EYS):c.2593A>G (p.Thr865Ala)
|
rs1228765084
|
0.00003
|
NM_001142800.2(EYS):c.2857A>G (p.Asn953Asp)
|
rs1326644818
|
0.00003
|
NM_001142800.2(EYS):c.2886C>G (p.Phe962Leu)
|
rs766153322
|
0.00003
|
NM_001142800.2(EYS):c.3419G>A (p.Gly1140Glu)
|
rs995707027
|
0.00003
|
NM_001142800.2(EYS):c.3793C>T (p.Pro1265Ser)
|
rs1245332279
|
0.00003
|
NM_001142800.2(EYS):c.3809T>G (p.Val1270Gly)
|
rs368856942
|
0.00003
|
NM_001142800.2(EYS):c.4308T>G (p.Ile1436Met)
|
rs1402137490
|
0.00003
|
NM_001142800.2(EYS):c.5330T>C (p.Leu1777Ser)
|
rs947209456
|
0.00003
|
NM_001142800.2(EYS):c.5654G>T (p.Cys1885Phe)
|
rs528824271
|
0.00003
|
NM_001142800.2(EYS):c.5776G>C (p.Asp1926His)
|
rs1051421896
|
0.00003
|
NM_001142800.2(EYS):c.5995A>G (p.Ile1999Val)
|
rs893294562
|
0.00003
|
NM_001142800.2(EYS):c.6010G>A (p.Gly2004Arg)
|
rs535282640
|
0.00003
|
NM_001142800.2(EYS):c.6062T>C (p.Leu2021Pro)
|
rs1372426303
|
0.00003
|
NM_001142800.2(EYS):c.632G>T (p.Cys211Phe)
|
rs772707303
|
0.00003
|
NM_001142800.2(EYS):c.6562A>G (p.Ile2188Val)
|
rs184448644
|
0.00003
|
NM_001142800.2(EYS):c.6822C>A (p.Ser2274=)
|
rs1055095941
|
0.00003
|
NM_001142800.2(EYS):c.6912G>A (p.Gly2304=)
|
rs745961740
|
0.00003
|
NM_001142800.2(EYS):c.7394C>G (p.Thr2465Ser)
|
rs145184183
|
0.00003
|
NM_001142800.2(EYS):c.7676C>T (p.Thr2559Ile)
|
rs913910892
|
0.00003
|
NM_001142800.2(EYS):c.7810C>T (p.Arg2604Cys)
|
rs1015857165
|
0.00003
|
NM_001142800.2(EYS):c.8071+3G>A
|
rs976010036
|
0.00003
|
NM_001142800.2(EYS):c.892T>G (p.Cys298Gly)
|
rs375850148
|
0.00003
|
NM_001142800.2(EYS):c.91G>A (p.Glu31Lys)
|
rs572189652
|
0.00003
|
NM_001142800.2(EYS):c.9371T>C (p.Ile3124Thr)
|
rs770840726
|
0.00003
|
NM_001193313.2(SUGCT):c.1090-65315C>T
|
rs201987458
|
0.00003
|
NM_001201543.2(FAM161A):c.*752A>G
|
rs886056217
|
0.00003
|
NM_001201543.2(FAM161A):c.1441G>A (p.Glu481Lys)
|
rs727503924
|
0.00003
|
NM_001201543.2(FAM161A):c.159A>G (p.Lys53=)
|
rs1184952883
|
0.00003
|
NM_001201543.2(FAM161A):c.1787G>A (p.Arg596Gln)
|
rs201467049
|
0.00003
|
NM_001201543.2(FAM161A):c.1966A>G (p.Asn656Asp)
|
rs773989386
|
0.00003
|
NM_001243279.3(ACSF3):c.*10C>T
|
rs199783009
|
0.00003
|
NM_001243279.3(ACSF3):c.134C>T (p.Pro45Leu)
|
rs767348758
|
0.00003
|
NM_001243279.3(ACSF3):c.1524G>A (p.Pro508=)
|
rs375187216
|
0.00003
|
NM_001243279.3(ACSF3):c.18G>A (p.Val6=)
|
rs375071176
|
0.00003
|
NM_001243279.3(ACSF3):c.29G>A (p.Arg10Gln)
|
rs751551226
|
0.00003
|
NM_001243279.3(ACSF3):c.86G>C (p.Ser29Thr)
|
rs754161182
|
0.00003
|
NM_001243279.3(ACSF3):c.953G>A (p.Arg318His)
|
rs200352879
|
0.00003
|
NM_001258392.3(CLPB):c.1692G>T (p.Arg564Ser)
|
rs778761751
|
0.00003
|
NM_001258392.3(CLPB):c.1786-3C>T
|
rs372126133
|
0.00003
|
NM_001258392.3(CLPB):c.890G>A (p.Arg297Gln)
|
rs762784246
|
0.00003
|
NM_001271.4(CHD2):c.294+5C>T
|
rs777934535
|
0.00003
|
NM_001271.4(CHD2):c.3238G>C (p.Ala1080Pro)
|
rs760099829
|
0.00003
|
NM_001271.4(CHD2):c.4063C>A (p.Leu1355Met)
|
rs748470273
|
0.00003
|
NM_001271.4(CHD2):c.4693-3T>C
|
rs967867731
|
0.00003
|
NM_001271.4(CHD2):c.5248G>T (p.Ala1750Ser)
|
rs753595749
|
0.00003
|
NM_001271.4(CHD2):c.881G>T (p.Gly294Val)
|
rs771390521
|
0.00003
|
NM_001278064.2(GRM1):c.2909C>T (p.Pro970Leu)
|
rs1432380664
|
0.00003
|
NM_001278293.3(ARL6):c.529C>T (p.Leu177Phe)
|
rs750627875
|
0.00003
|
NM_001297.5(CNGB1):c.*111T>C
|
rs556523294
|
0.00003
|
NM_001297.5(CNGB1):c.*601G>A
|
rs574111364
|
0.00003
|
NM_001297.5(CNGB1):c.1802-14A>G
|
rs751916833
|
0.00003
|
NM_001297.5(CNGB1):c.2501G>T (p.Arg834Leu)
|
rs761295014
|
0.00003
|
NM_001297.5(CNGB1):c.3330C>T (p.Asn1110=)
|
rs566102644
|
0.00003
|
NM_001297.5(CNGB1):c.417C>A (p.Cys139Ter)
|
rs1346391067
|
0.00003
|
NM_001330260.2(SCN8A):c.3060G>C (p.Gln1020His)
|
rs528718802
|
0.00003
|
NM_001352514.2(HLCS):c.*1581T>C
|
rs886057069
|
0.00003
|
NM_001352514.2(HLCS):c.*1761_*1762del
|
rs886057067
|
0.00003
|
NM_001352514.2(HLCS):c.*334A>G
|
rs886057073
|
0.00003
|
NM_001352514.2(HLCS):c.*779A>T
|
rs886057072
|
0.00003
|
NM_001352514.2(HLCS):c.*985C>A
|
rs886057071
|
0.00003
|
NM_001352514.2(HLCS):c.1122A>C (p.Glu374Asp)
|
rs780469041
|
0.00003
|
NM_001352514.2(HLCS):c.1237A>C (p.Thr413Pro)
|
rs747122714
|
0.00003
|
NM_001352514.2(HLCS):c.1328T>G (p.Val443Gly)
|
rs778061862
|
0.00003
|
NM_001352514.2(HLCS):c.1480C>T (p.Pro494Ser)
|
rs556454789
|
0.00003
|
NM_001352514.2(HLCS):c.1821G>A (p.Leu607=)
|
rs147495853
|
0.00003
|
NM_001352514.2(HLCS):c.206A>G (p.Asp69Gly)
|
rs886057080
|
0.00003
|
NM_001352514.2(HLCS):c.2121+1G>A
|
rs1175936807
|
0.00003
|
NM_001352514.2(HLCS):c.2584G>A (p.Asp862Asn)
|
rs140014588
|
0.00003
|
NM_001352514.2(HLCS):c.569C>T (p.Pro190Leu)
|
rs534858065
|
0.00003
|
NM_001352514.2(HLCS):c.841G>A (p.Asp281Asn)
|
rs148426470
|
0.00003
|
NM_001354768.3(NRL):c.425T>C (p.Val142Ala)
|
rs576841649
|
0.00003
|
NM_001370658.1(BTD):c.1046C>T (p.Pro349Leu)
|
rs397514400
|
0.00003
|
NM_001370658.1(BTD):c.1471C>G (p.Gln491Glu)
|
rs397514427
|
0.00003
|
NM_001370658.1(BTD):c.377C>G (p.Pro126Arg)
|
rs371116229
|
0.00003
|
NM_001370658.1(BTD):c.581A>G (p.Asn194Ser)
|
rs397514377
|
0.00003
|
NM_001370658.1(BTD):c.604G>A (p.Asp202Asn)
|
rs200337373
|
0.00003
|
NM_001370658.1(BTD):c.908A>G (p.His303Arg)
|
rs397507176
|
0.00003
|
NM_001379270.1(CNGA1):c.-163G>A
|
rs1023154953
|
0.00003
|
NM_001379270.1(CNGA1):c.1237A>G (p.Ile413Val)
|
rs200148364
|
0.00003
|
NM_001379270.1(CNGA1):c.1463T>C (p.Val488Ala)
|
rs374880057
|
0.00003
|
NM_001482.3(GATM):c.1159+14A>G
|
rs368974196
|
0.00003
|
NM_001482.3(GATM):c.139C>T (p.Arg47Trp)
|
rs749075034
|
0.00003
|
NM_001482.3(GATM):c.279C>G (p.Ile93Met)
|
rs192378417
|
0.00003
|
NM_001510.4(GRID2):c.899G>A (p.Arg300His)
|
rs201635818
|
0.00003
|
NM_001605.3(AARS1):c.1969A>G (p.Asn657Asp)
|
rs749039663
|
0.00003
|
NM_001609.4(ACADSB):c.*3431C>G
|
rs886046800
|
0.00003
|
NM_001609.4(ACADSB):c.*59G>A
|
rs886046784
|
0.00003
|
NM_001609.4(ACADSB):c.*6A>G
|
rs530087761
|
0.00003
|
NM_001609.4(ACADSB):c.*973A>G
|
rs886046786
|
0.00003
|
NM_001609.4(ACADSB):c.1128+3A>T
|
rs760423996
|
0.00003
|
NM_001609.4(ACADSB):c.1151A>T (p.Lys384Ile)
|
rs760585344
|
0.00003
|
NM_001609.4(ACADSB):c.1186A>G (p.Lys396Glu)
|
rs199963793
|
0.00003
|
NM_001609.4(ACADSB):c.176A>G (p.Asp59Gly)
|
rs1375520384
|
0.00003
|
NM_001609.4(ACADSB):c.675T>C (p.Pro225=)
|
rs770933347
|
0.00003
|
NM_001698.3(AUH):c.746A>G (p.Lys249Arg)
|
rs752072326
|
0.00003
|
NM_001739.2(CA5A):c.287G>C (p.Trp96Ser)
|
rs766339583
|
0.00003
|
NM_001875.5(CPS1):c.*235A>T
|
rs6728169
|
0.00003
|
NM_001875.5(CPS1):c.*808G>T
|
rs943762320
|
0.00003
|
NM_001875.5(CPS1):c.1145C>T (p.Pro382Leu)
|
rs201407486
|
0.00003
|
NM_001875.5(CPS1):c.2458A>G (p.Ile820Val)
|
rs554763314
|
0.00003
|
NM_001875.5(CPS1):c.2815C>T (p.Pro939Ser)
|
rs1047579926
|
0.00003
|
NM_001875.5(CPS1):c.3265C>T (p.Arg1089Cys)
|
rs1392559810
|
0.00003
|
NM_001875.5(CPS1):c.3472G>A (p.Val1158Ile)
|
rs555151297
|
0.00003
|
NM_001875.5(CPS1):c.3724G>A (p.Val1242Ile)
|
rs766236739
|
0.00003
|
NM_001876.4(CPT1A):c.1112C>T (p.Ser371Leu)
|
rs376430455
|
0.00003
|
NM_001876.4(CPT1A):c.1518C>T (p.Gly506=)
|
rs573112017
|
0.00003
|
NM_001876.4(CPT1A):c.2235+4T>C
|
rs755308448
|
0.00003
|
NM_001876.4(CPT1A):c.266G>A (p.Arg89Gln)
|
rs751235722
|
0.00003
|
NM_001876.4(CPT1A):c.601C>T (p.Arg201Trp)
|
rs373344573
|
0.00003
|
NM_001876.4(CPT1A):c.946C>G (p.Arg316Gly)
|
rs80356796
|
0.00003
|
NM_001902.6(CTH):c.*513T>A
|
rs900700647
|
0.00003
|
NM_001902.6(CTH):c.*693G>T
|
rs953689275
|
0.00003
|
NM_001902.6(CTH):c.1052+1G>A
|
rs570239863
|
0.00003
|
NM_001902.6(CTH):c.541G>A (p.Asp181Asn)
|
rs748301555
|
0.00003
|
NM_001918.5(DBT):c.*2271A>C
|
rs768839953
|
0.00003
|
NM_001918.5(DBT):c.*488G>A
|
rs778739081
|
0.00003
|
NM_001958.5(EEF1A2):c.1029+6G>A
|
rs370457251
|
0.00003
|
NM_001958.5(EEF1A2):c.502G>A (p.Asp168Asn)
|
rs779246304
|
0.00003
|
NM_001958.5(EEF1A2):c.716C>T (p.Thr239Met)
|
rs993963334
|
0.00003
|
NM_001985.3(ETFB):c.142G>A (p.Glu48Lys)
|
rs750117869
|
0.00003
|
NM_001985.3(ETFB):c.232G>A (p.Ala78Thr)
|
rs548046212
|
0.00003
|
NM_001985.3(ETFB):c.274C>T (p.Pro92Ser)
|
rs758509148
|
0.00003
|
NM_001985.3(ETFB):c.598A>G (p.Lys200Glu)
|
rs920672041
|
0.00003
|
NM_001985.3(ETFB):c.687C>A (p.Asp229Glu)
|
rs200877363
|
0.00003
|
NM_002098.6(GUCA1B):c.*95T>C
|
rs886061398
|
0.00003
|
NM_002108.4(HAL):c.398G>A (p.Arg133His)
|
rs781172842
|
0.00003
|
NM_002150.3(HPD):c.1108G>A (p.Ala370Thr)
|
rs142321451
|
0.00003
|
NM_002225.3(IVD):c.-237G>C
|
rs749128466
|
0.00003
|
NM_002225.5(IVD):c.*699G>A
|
rs1039225701
|
0.00003
|
NM_002225.5(IVD):c.1001T>C (p.Met334Thr)
|
rs368041528
|
0.00003
|
NM_002225.5(IVD):c.1139-8G>C
|
rs755640305
|
0.00003
|
NM_002225.5(IVD):c.264C>T (p.Gly88=)
|
rs377199313
|
0.00003
|
NM_002225.5(IVD):c.334A>T (p.Met112Leu)
|
rs772021923
|
0.00003
|
NM_002225.5(IVD):c.851G>A (p.Arg284Gln)
|
rs373534546
|
0.00003
|
NM_002225.5(IVD):c.895C>G (p.Leu299Val)
|
rs149247895
|
0.00003
|
NM_002454.3(MTRR):c.1789C>A (p.Leu597Ile)
|
rs755408035
|
0.00003
|
NM_002454.3(MTRR):c.208C>T (p.Arg70Cys)
|
rs374239028
|
0.00003
|
NM_002454.3(MTRR):c.268C>T (p.Arg90Trp)
|
rs773984668
|
0.00003
|
NM_002602.4(PDE6G):c.117G>C (p.Lys39Asn)
|
rs181137206
|
0.00003
|
NM_002602.4(PDE6G):c.81C>T (p.Pro27=)
|
rs546019967
|
0.00003
|
NM_002860.4(ALDH18A1):c.1027A>G (p.Ile343Val)
|
rs371294018
|
0.00003
|
NM_002860.4(ALDH18A1):c.1190C>T (p.Thr397Met)
|
rs769823561
|
0.00003
|
NM_002860.4(ALDH18A1):c.122G>A (p.Arg41His)
|
rs192921117
|
0.00003
|
NM_002860.4(ALDH18A1):c.1237G>A (p.Glu413Lys)
|
rs147348068
|
0.00003
|
NM_002860.4(ALDH18A1):c.1417A>G (p.Ile473Val)
|
rs373239891
|
0.00003
|
NM_002860.4(ALDH18A1):c.1467+15C>T
|
rs374652686
|
0.00003
|
NM_002860.4(ALDH18A1):c.1540C>T (p.Arg514Trp)
|
rs770442555
|
0.00003
|
NM_002860.4(ALDH18A1):c.2176C>T (p.Arg726Cys)
|
rs202169492
|
0.00003
|
NM_002860.4(ALDH18A1):c.2383A>G (p.Asn795Asp)
|
rs747918055
|
0.00003
|
NM_002860.4(ALDH18A1):c.709G>C (p.Gly237Arg)
|
rs201841420
|
0.00003
|
NM_002860.4(ALDH18A1):c.933+14G>A
|
rs546156675
|
0.00003
|
NM_002900.3(RBP3):c.1264C>T (p.Arg422Trp)
|
rs199801954
|
0.00003
|
NM_002900.3(RBP3):c.1298C>T (p.Ser433Leu)
|
rs375761633
|
0.00003
|
NM_002900.3(RBP3):c.2407G>A (p.Ala803Thr)
|
rs782632795
|
0.00003
|
NM_002900.3(RBP3):c.2871G>T (p.Leu957=)
|
rs377374761
|
0.00003
|
NM_002900.3(RBP3):c.2949G>C (p.Glu983Asp)
|
rs886047016
|
0.00003
|
NM_002900.3(RBP3):c.463G>A (p.Val155Met)
|
rs782157576
|
0.00003
|
NM_002900.3(RBP3):c.53G>T (p.Gly18Val)
|
rs864621997
|
0.00003
|
NM_002900.3(RBP3):c.962C>T (p.Thr321Ile)
|
rs376854254
|
0.00003
|
NM_003042.4(SLC6A1):c.1302C>G (p.Ile434Met)
|
rs200670508
|
0.00003
|
NM_003042.4(SLC6A1):c.31G>A (p.Gly11Arg)
|
rs1264567694
|
0.00003
|
NM_003042.4(SLC6A1):c.582G>A (p.Glu194=)
|
rs372085480
|
0.00003
|
NM_003060.4(SLC22A5):c.*5G>A
|
rs554373076
|
0.00003
|
NM_003060.4(SLC22A5):c.1229G>A (p.Gly410Asp)
|
rs200125400
|
0.00003
|
NM_003060.4(SLC22A5):c.1255C>G (p.Leu419Val)
|
rs780591287
|
0.00003
|
NM_003060.4(SLC22A5):c.1267+5G>A
|
rs367638878
|
0.00003
|
NM_003060.4(SLC22A5):c.1271T>C (p.Leu424Ser)
|
rs184618759
|
0.00003
|
NM_003060.4(SLC22A5):c.130G>A (p.Ala44Thr)
|
rs1266620798
|
0.00003
|
NM_003060.4(SLC22A5):c.131C>T (p.Ala44Val)
|
rs199689597
|
0.00003
|
NM_003060.4(SLC22A5):c.133A>G (p.Thr45Ala)
|
rs376438682
|
0.00003
|
NM_003060.4(SLC22A5):c.1552C>G (p.Pro518Ala)
|
rs768925240
|
0.00003
|
NM_003060.4(SLC22A5):c.1587-11T>G
|
rs772775759
|
0.00003
|
NM_003060.4(SLC22A5):c.377C>A (p.Ser126Tyr)
|
rs568906114
|
0.00003
|
NM_003060.4(SLC22A5):c.451G>A (p.Val151Met)
|
rs386134193
|
0.00003
|
NM_003060.4(SLC22A5):c.453G>A (p.Val151=)
|
rs386134194
|
0.00003
|
NM_003060.4(SLC22A5):c.523G>A (p.Val175Met)
|
rs781721860
|
0.00003
|
NM_003060.4(SLC22A5):c.530T>C (p.Met177Thr)
|
rs761866020
|
0.00003
|
NM_003060.4(SLC22A5):c.592G>A (p.Val198Met)
|
rs757979350
|
0.00003
|
NM_003060.4(SLC22A5):c.696G>A (p.Thr232=)
|
rs748677211
|
0.00003
|
NM_003124.5(SPR):c.16G>C (p.Gly6Arg)
|
rs769415486
|
0.00003
|
NM_003611.3(OFD1):c.324G>A (p.Met108Ile)
|
rs763219658
|
0.00003
|
NM_003748.3(ALDH4A1):c.-65G>C
|
rs878956441
|
0.00003
|
NM_003748.4(ALDH4A1):c.1529C>G (p.Ser510Cys)
|
rs760227262
|
0.00003
|
NM_003748.4(ALDH4A1):c.1625C>T (p.Thr542Met)
|
rs771061582
|
0.00003
|
NM_003748.4(ALDH4A1):c.569C>T (p.Pro190Leu)
|
rs757819366
|
0.00003
|
NM_003982.4(SLC7A7):c.-66C>A
|
rs886050406
|
0.00003
|
NM_003982.4(SLC7A7):c.1123G>A (p.Val375Met)
|
rs769093980
|
0.00003
|
NM_003982.4(SLC7A7):c.1315G>A (p.Asp439Asn)
|
rs199986641
|
0.00003
|
NM_003982.4(SLC7A7):c.1494T>C (p.Asp498=)
|
rs765682604
|
0.00003
|
NM_003982.4(SLC7A7):c.149T>C (p.Met50Thr)
|
rs386833811
|
0.00003
|
NM_003982.4(SLC7A7):c.308G>A (p.Ser103Asn)
|
rs1253377292
|
0.00003
|
NM_003982.4(SLC7A7):c.595A>G (p.Ile199Val)
|
rs779266344
|
0.00003
|
NM_003982.4(SLC7A7):c.894+6G>A
|
rs373812507
|
0.00003
|
NM_004170.6(SLC1A1):c.*1076A>C
|
rs886063975
|
0.00003
|
NM_004170.6(SLC1A1):c.*675A>G
|
rs886063971
|
0.00003
|
NM_004170.6(SLC1A1):c.*853G>A
|
rs527285220
|
0.00003
|
NM_004170.6(SLC1A1):c.262G>A (p.Gly88Arg)
|
rs144425673
|
0.00003
|
NM_004172.5(SLC1A3):c.-205G>A
|
rs202216601
|
0.00003
|
NM_004172.5(SLC1A3):c.1269C>T (p.Phe423=)
|
rs758802146
|
0.00003
|
NM_004172.5(SLC1A3):c.510C>G (p.Phe170Leu)
|
rs774420370
|
0.00003
|
NM_004172.5(SLC1A3):c.955G>A (p.Val319Met)
|
rs753136358
|
0.00003
|
NM_004183.4(BEST1):c.991C>T (p.Arg331Trp)
|
rs757536535
|
0.00003
|
NM_004408.4(DNM1):c.812G>A (p.Arg271His)
|
rs201656136
|
0.00003
|
NM_004453.4(ETFDH):c.142A>G (p.Ile48Val)
|
rs201823591
|
0.00003
|
NM_004453.4(ETFDH):c.1503T>G (p.Asp501Glu)
|
rs752947878
|
0.00003
|
NM_004453.4(ETFDH):c.88G>A (p.Ala30Thr)
|
rs1340326448
|
0.00003
|
NM_004483.5(GCSH):c.77G>A (p.Cys26Tyr)
|
rs1443267686
|
0.00003
|
NM_004577.3(PSPH):c.-711G>A
|
rs886062397
|
0.00003
|
NM_004577.4(PSPH):c.*22A>G
|
rs374366346
|
0.00003
|
NM_004577.4(PSPH):c.*277G>A
|
rs886062389
|
0.00003
|
NM_004577.4(PSPH):c.149G>A (p.Arg50Gln)
|
rs554689284
|
0.00003
|
NM_004577.4(PSPH):c.371A>G (p.Asn124Ser)
|
rs761409780
|
0.00003
|
NM_004698.4(PRPF3):c.1526+14G>T
|
rs376006808
|
0.00003
|
NM_004744.5(LRAT):c.*2190C>T
|
rs886059169
|
0.00003
|
NM_004744.5(LRAT):c.*2453C>A
|
rs886059171
|
0.00003
|
NM_004937.3(CTNS):c.*1249C>T
|
rs886052876
|
0.00003
|
NM_004937.3(CTNS):c.*1397C>T
|
rs886052878
|
0.00003
|
NM_004937.3(CTNS):c.*1502C>G
|
rs377728246
|
0.00003
|
NM_004937.3(CTNS):c.*16T>C
|
rs201198798
|
0.00003
|
NM_004937.3(CTNS):c.*1708A>G
|
rs867189674
|
0.00003
|
NM_004937.3(CTNS):c.*2195G>A
|
rs886052883
|
0.00003
|
NM_004937.3(CTNS):c.*2492G>A
|
rs886052884
|
0.00003
|
NM_004937.3(CTNS):c.*2527G>A
|
rs886052885
|
0.00003
|
NM_004937.3(CTNS):c.*280G>A
|
rs200771636
|
0.00003
|
NM_004937.3(CTNS):c.-47A>C
|
rs886052865
|
0.00003
|
NM_005050.4(ABCD4):c.1172G>A (p.Arg391Gln)
|
rs747987460
|
0.00003
|
NM_005271.5(GLUD1):c.*1270C>T
|
rs886047370
|
0.00003
|
NM_005271.5(GLUD1):c.*1464C>T
|
rs886047368
|
0.00003
|
NM_005271.5(GLUD1):c.*1548C>T
|
rs886047366
|
0.00003
|
NM_005271.5(GLUD1):c.1100A>G (p.Tyr367Cys)
|
rs766896575
|
0.00003
|
NM_005271.5(GLUD1):c.1568G>A (p.Arg523His)
|
rs761933718
|
0.00003
|
NM_005327.7(HADH):c.325G>A (p.Val109Ile)
|
rs199810422
|
0.00003
|
NM_005327.7(HADH):c.47C>T (p.Ser16Phe)
|
rs374248298
|
0.00003
|
NM_005327.7(HADH):c.889G>A (p.Val297Ile)
|
rs376876153
|
0.00003
|
NM_005334.3(HCFC1):c.3604G>A (p.Gly1202Arg)
|
rs1439756712
|
0.00003
|
NM_005334.3(HCFC1):c.3731G>A (p.Arg1244His)
|
rs782013532
|
0.00003
|
NM_005334.3(HCFC1):c.4566G>A (p.Ser1522=)
|
rs371874117
|
0.00003
|
NM_005334.3(HCFC1):c.4733C>T (p.Thr1578Ile)
|
rs1252960661
|
0.00003
|
NM_005518.4(HMGCS2):c.105-3C>T
|
rs1035647830
|
0.00003
|
NM_005518.4(HMGCS2):c.1513C>T (p.Arg505Trp)
|
rs780044819
|
0.00003
|
NM_005518.4(HMGCS2):c.791G>A (p.Arg264Gln)
|
rs372095379
|
0.00003
|
NM_005518.4(HMGCS2):c.880G>A (p.Asp294Asn)
|
rs144103604
|
0.00003
|
NM_005589.4(ALDH6A1):c.*2861C>T
|
rs939793039
|
0.00003
|
NM_005589.4(ALDH6A1):c.799G>A (p.Glu267Lys)
|
rs763810979
|
0.00003
|
NM_005589.4(ALDH6A1):c.908A>G (p.Asn303Ser)
|
rs376852895
|
0.00003
|
NM_005629.4(SLC6A8):c.1601T>C (p.Ile534Thr)
|
rs797045971
|
0.00003
|
NM_005763.4(AASS):c.1393C>G (p.Leu465Val)
|
rs1011506361
|
0.00003
|
NM_005802.5(TOPORS):c.2048G>A (p.Arg683Gln)
|
rs149570596
|
0.00003
|
NM_005957.5(MTHFR):c.151C>T (p.Arg51Trp)
|
rs764131110
|
0.00003
|
NM_005957.5(MTHFR):c.1743G>A (p.Met581Ile)
|
rs45590836
|
0.00003
|
NM_005957.5(MTHFR):c.867C>A (p.Asp289Glu)
|
rs139786244
|
0.00003
|
NM_006017.3(PROM1):c.1301+10T>A
|
rs192338518
|
0.00003
|
NM_006017.3(PROM1):c.1301+11C>A
|
rs189953160
|
0.00003
|
NM_006017.3(PROM1):c.1450A>G (p.Met484Val)
|
rs574974703
|
0.00003
|
NM_006017.3(PROM1):c.1946C>T (p.Ser649Leu)
|
rs761911901
|
0.00003
|
NM_006017.3(PROM1):c.2446G>C (p.Ala816Pro)
|
rs368515078
|
0.00003
|
NM_006017.3(PROM1):c.276+15G>T
|
rs766012920
|
0.00003
|
NM_006269.2(RP1):c.2716G>A (p.Ala906Thr)
|
rs201538234
|
0.00003
|
NM_006269.2(RP1):c.5002A>G (p.Arg1668Gly)
|
rs375004458
|
0.00003
|
NM_006269.2(RP1):c.515T>G (p.Leu172Arg)
|
rs180729424
|
0.00003
|
NM_006269.2(RP1):c.6225A>C (p.Arg2075Ser)
|
rs756000109
|
0.00003
|
NM_006343.3(MERTK):c.*309C>A
|
rs886054762
|
0.00003
|
NM_006343.3(MERTK):c.138C>G (p.Asp46Glu)
|
rs527694612
|
0.00003
|
NM_006343.3(MERTK):c.1441C>T (p.Pro481Ser)
|
rs781442827
|
0.00003
|
NM_006343.3(MERTK):c.1885C>T (p.Arg629Trp)
|
rs749774293
|
0.00003
|
NM_006343.3(MERTK):c.2165G>A (p.Arg722Gln)
|
rs147779020
|
0.00003
|
NM_006343.3(MERTK):c.2785_2786dup (p.Ile930fs)
|
rs773105686
|
0.00003
|
NM_006343.3(MERTK):c.61+3G>C
|
rs746981720
|
0.00003
|
NM_006445.4(PRPF8):c.*167A>G
|
rs753906300
|
0.00003
|
NM_006445.4(PRPF8):c.2790C>T (p.Ala930=)
|
rs779910932
|
0.00003
|
NM_006445.4(PRPF8):c.385G>A (p.Val129Ile)
|
rs548682365
|
0.00003
|
NM_006445.4(PRPF8):c.654-5C>T
|
rs143954665
|
0.00003
|
NM_006623.4(PHGDH):c.139-17T>A
|
rs191621265
|
0.00003
|
NM_006623.4(PHGDH):c.226G>T (p.Ala76Ser)
|
rs200509653
|
0.00003
|
NM_006623.4(PHGDH):c.718G>A (p.Val240Met)
|
rs765276824
|
0.00003
|
NM_006623.4(PHGDH):c.802C>T (p.Arg268Trp)
|
rs142622658
|
0.00003
|
NM_006623.4(PHGDH):c.932C>T (p.Ser311Phe)
|
rs143340742
|
0.00003
|
NM_006623.4(PHGDH):c.980C>T (p.Pro327Leu)
|
rs778021683
|
0.00003
|
NM_006721.4(ADK):c.259A>G (p.Ile87Val)
|
rs201734294
|
0.00003
|
NM_006859.4(LIAS):c.110A>T (p.Glu37Val)
|
rs763606110
|
0.00003
|
NM_006859.4(LIAS):c.122A>G (p.Asn41Ser)
|
rs761295906
|
0.00003
|
NM_006859.4(LIAS):c.376G>A (p.Ala126Thr)
|
rs74528014
|
0.00003
|
NM_006859.4(LIAS):c.473G>C (p.Ser158Thr)
|
rs751421705
|
0.00003
|
NM_006859.4(LIAS):c.877A>G (p.Met293Val)
|
rs943564525
|
0.00003
|
NM_006915.2(RP2):c.-70A>G
|
rs1057515891
|
0.00003
|
NM_006915.3(RP2):c.*1081C>T
|
rs782529175
|
0.00003
|
NM_006915.3(RP2):c.49C>T (p.Pro17Ser)
|
rs782103396
|
0.00003
|
NM_012213.3(MLYCD):c.*213G>A
|
rs886052360
|
0.00003
|
NM_012213.3(MLYCD):c.*42C>T
|
rs768055540
|
0.00003
|
NM_012213.3(MLYCD):c.*653A>C
|
rs372689737
|
0.00003
|
NM_012213.3(MLYCD):c.1160C>G (p.Ser387Trp)
|
rs376324546
|
0.00003
|
NM_012213.3(MLYCD):c.1241A>G (p.Tyr414Cys)
|
rs368099850
|
0.00003
|
NM_012213.3(MLYCD):c.1255G>A (p.Val419Met)
|
rs773101554
|
0.00003
|
NM_012213.3(MLYCD):c.1336G>A (p.Gly446Ser)
|
rs377075332
|
0.00003
|
NM_012213.3(MLYCD):c.1344C>T (p.Cys448=)
|
rs534173407
|
0.00003
|
NM_012213.3(MLYCD):c.505C>T (p.Leu169=)
|
rs771885443
|
0.00003
|
NM_012213.3(MLYCD):c.64C>T (p.Pro22Ser)
|
rs915124487
|
0.00003
|
NM_012213.3(MLYCD):c.762C>T (p.His254=)
|
rs773274796
|
0.00003
|
NM_012463.4(ATP6V0A2):c.*2090C>T
|
rs772018611
|
0.00003
|
NM_012463.4(ATP6V0A2):c.*3269A>G
|
rs567165258
|
0.00003
|
NM_012463.4(ATP6V0A2):c.*575G>A
|
rs996318859
|
0.00003
|
NM_012463.4(ATP6V0A2):c.1018C>T (p.Arg340Trp)
|
rs781305219
|
0.00003
|
NM_012463.4(ATP6V0A2):c.1038G>A (p.Ser346=)
|
rs147411055
|
0.00003
|
NM_012463.4(ATP6V0A2):c.1096C>T (p.Pro366Ser)
|
rs372416067
|
0.00003
|
NM_012463.4(ATP6V0A2):c.1515-12T>G
|
rs201512900
|
0.00003
|
NM_012463.4(ATP6V0A2):c.440C>T (p.Pro147Leu)
|
rs747354658
|
0.00003
|
NM_012463.4(ATP6V0A2):c.793G>A (p.Gly265Arg)
|
rs774118423
|
0.00003
|
NM_012463.4(ATP6V0A2):c.993C>T (p.Pro331=)
|
rs367873118
|
0.00003
|
NM_012469.4(PRPF6):c.-83A>G
|
rs527686294
|
0.00003
|
NM_012469.4(PRPF6):c.867-6T>C
|
rs200951432
|
0.00003
|
NM_014003.4(DHX38):c.2831G>A (p.Arg944Gln)
|
rs543465915
|
0.00003
|
NM_014014.5(SNRNP200):c.*287C>G
|
rs754113881
|
0.00003
|
NM_014014.5(SNRNP200):c.2927C>T (p.Thr976Met)
|
rs368406136
|
0.00003
|
NM_014049.5(ACAD9):c.1190C>T (p.Ala397Val)
|
rs768894091
|
0.00003
|
NM_014049.5(ACAD9):c.1415G>A (p.Arg472Gln)
|
rs762081272
|
0.00003
|
NM_014049.5(ACAD9):c.1525G>A (p.Gly509Ser)
|
rs141036010
|
0.00003
|
NM_014049.5(ACAD9):c.1832A>G (p.Tyr611Cys)
|
rs1057523761
|
0.00003
|
NM_014049.5(ACAD9):c.44G>C (p.Arg15Pro)
|
rs886057955
|
0.00003
|
NM_014049.5(ACAD9):c.555T>G (p.Ser185Arg)
|
rs781738719
|
0.00003
|
NM_014049.5(ACAD9):c.634-3C>T
|
rs187282664
|
0.00003
|
NM_014049.5(ACAD9):c.662A>G (p.Asn221Ser)
|
rs761452056
|
0.00003
|
NM_014249.4(NR2E3):c.*453G>T
|
rs886051457
|
0.00003
|
NM_014249.4(NR2E3):c.1001G>A (p.Arg334Gln)
|
rs374483122
|
0.00003
|
NM_014249.4(NR2E3):c.1062C>G (p.Ser354Arg)
|
rs777512062
|
0.00003
|
NM_014249.4(NR2E3):c.142C>T (p.Arg48Cys)
|
rs763706390
|
0.00003
|
NM_014249.4(NR2E3):c.245+9G>A
|
rs538864090
|
0.00003
|
NM_014249.4(NR2E3):c.666G>C (p.Glu222Asp)
|
rs759765652
|
0.00003
|
NM_014249.4(NR2E3):c.899C>T (p.Thr300Met)
|
rs374016332
|
0.00003
|
NM_014249.4(NR2E3):c.998C>T (p.Thr333Met)
|
rs554638593
|
0.00003
|
NM_014251.3(SLC25A13):c.1063C>T (p.Arg355Ter)
|
rs758827458
|
0.00003
|
NM_014251.3(SLC25A13):c.1311C>T (p.Cys437=)
|
rs879255502
|
0.00003
|
NM_014251.3(SLC25A13):c.1505C>T (p.Pro502Leu)
|
rs139149160
|
0.00003
|
NM_014251.3(SLC25A13):c.158C>T (p.Pro53Leu)
|
rs753950441
|
0.00003
|
NM_014251.3(SLC25A13):c.1658G>A (p.Arg553Gln)
|
rs201283753
|
0.00003
|
NM_014251.3(SLC25A13):c.1711C>T (p.Arg571Cys)
|
rs753626243
|
0.00003
|
NM_014252.4(SLC25A15):c.*1345G>C
|
rs886050243
|
0.00003
|
NM_014252.4(SLC25A15):c.*2105A>T
|
rs886050248
|
0.00003
|
NM_014252.4(SLC25A15):c.*217G>A
|
rs886050241
|
0.00003
|
NM_014252.4(SLC25A15):c.*2373T>C
|
rs886050249
|
0.00003
|
NM_014252.4(SLC25A15):c.*871T>C
|
rs767132355
|
0.00003
|
NM_014252.4(SLC25A15):c.337G>A (p.Gly113Ser)
|
rs199894905
|
0.00003
|
NM_014252.4(SLC25A15):c.677C>T (p.Ala226Val)
|
rs776523157
|
0.00003
|
NM_014270.5(SLC7A9):c.-159G>A
|
rs768949145
|
0.00003
|
NM_014270.5(SLC7A9):c.-90G>A
|
rs886054330
|
0.00003
|
NM_014270.5(SLC7A9):c.26G>A (p.Arg9Gln)
|
rs200753692
|
0.00003
|
NM_014270.5(SLC7A9):c.448G>A (p.Val150Ile)
|
rs768355648
|
0.00003
|
NM_014270.5(SLC7A9):c.812A>G (p.Asn271Ser)
|
rs143285077
|
0.00003
|
NM_014270.5(SLC7A9):c.827C>T (p.Thr276Ile)
|
rs886054328
|
0.00003
|
NM_014336.5(AIPL1):c.*1017C>T
|
rs868498336
|
0.00003
|
NM_014336.5(AIPL1):c.*112A>T
|
rs953523528
|
0.00003
|
NM_014336.5(AIPL1):c.*1444G>A
|
rs886053258
|
0.00003
|
NM_014336.5(AIPL1):c.*146A>C
|
rs898046851
|
0.00003
|
NM_014336.5(AIPL1):c.1054G>A (p.Ala352Thr)
|
rs751700711
|
0.00003
|
NM_014336.5(AIPL1):c.785-11G>A
|
rs199772097
|
0.00003
|
NM_014384.3(ACAD8):c.1233C>T (p.Ser411=)
|
rs146145710
|
0.00003
|
NM_014384.3(ACAD8):c.730C>T (p.Arg244Ter)
|
rs746960051
|
0.00003
|
NM_014714.4(IFT140):c.1306G>T (p.Val436Phe)
|
rs764912104
|
0.00003
|
NM_014714.4(IFT140):c.1487C>T (p.Thr496Met)
|
rs764537319
|
0.00003
|
NM_014714.4(IFT140):c.1727G>A (p.Arg576Gln)
|
rs373111085
|
0.00003
|
NM_014714.4(IFT140):c.1972C>T (p.Pro658Ser)
|
rs778960409
|
0.00003
|
NM_014714.4(IFT140):c.2035G>A (p.Gly679Arg)
|
rs769632242
|
0.00003
|
NM_014714.4(IFT140):c.2138G>A (p.Arg713Gln)
|
rs200440483
|
0.00003
|
NM_014714.4(IFT140):c.2425C>T (p.Arg809Cys)
|
rs755748472
|
0.00003
|
NM_014714.4(IFT140):c.2611C>T (p.Arg871Cys)
|
rs767213195
|
0.00003
|
NM_014714.4(IFT140):c.2717G>A (p.Arg906His)
|
rs754338217
|
0.00003
|
NM_014714.4(IFT140):c.2725G>A (p.Gly909Arg)
|
rs201100248
|
0.00003
|
NM_014714.4(IFT140):c.2746G>A (p.Asp916Asn)
|
rs568921640
|
0.00003
|
NM_014714.4(IFT140):c.3103C>T (p.Arg1035Trp)
|
rs141818893
|
0.00003
|
NM_014714.4(IFT140):c.3560C>T (p.Ser1187Leu)
|
rs952706482
|
0.00003
|
NM_014714.4(IFT140):c.3719T>C (p.Val1240Ala)
|
rs149521576
|
0.00003
|
NM_014714.4(IFT140):c.4041-5G>A
|
rs754813435
|
0.00003
|
NM_014714.4(IFT140):c.508G>A (p.Ala170Thr)
|
rs145551546
|
0.00003
|
NM_015506.3(MMACHC):c.566G>A (p.Arg189His)
|
rs761221416
|
0.00003
|
NM_015509.4(NECAP1):c.136C>T (p.Arg46Cys)
|
rs202044480
|
0.00003
|
NM_015509.4(NECAP1):c.161A>C (p.Lys54Thr)
|
rs755337455
|
0.00003
|
NM_015509.4(NECAP1):c.436C>T (p.Arg146Cys)
|
rs1016693316
|
0.00003
|
NM_015509.4(NECAP1):c.562C>A (p.Pro188Thr)
|
rs775614356
|
0.00003
|
NM_015629.4(PRPF31):c.177+7G>A
|
rs886054618
|
0.00003
|
NM_015629.4(PRPF31):c.528G>A (p.Gly176=)
|
rs368977441
|
0.00003
|
NM_015629.4(PRPF31):c.557G>A (p.Arg186Gln)
|
rs776437225
|
0.00003
|
NM_015662.3(IFT172):c.1056C>G (p.His352Gln)
|
rs145847794
|
0.00003
|
NM_015662.3(IFT172):c.1354G>A (p.Gly452Arg)
|
rs866980509
|
0.00003
|
NM_015662.3(IFT172):c.1432A>G (p.Asn478Asp)
|
rs374979653
|
0.00003
|
NM_015662.3(IFT172):c.1585A>G (p.Met529Val)
|
rs745382278
|
0.00003
|
NM_015662.3(IFT172):c.2681G>A (p.Arg894His)
|
rs561927411
|
0.00003
|
NM_015662.3(IFT172):c.2744A>G (p.Tyr915Cys)
|
rs749474609
|
0.00003
|
NM_015662.3(IFT172):c.2819G>A (p.Arg940Gln)
|
rs761248577
|
0.00003
|
NM_015662.3(IFT172):c.2873A>C (p.His958Pro)
|
rs748358110
|
0.00003
|
NM_015662.3(IFT172):c.3030C>A (p.His1010Gln)
|
rs201607202
|
0.00003
|
NM_015662.3(IFT172):c.3160G>A (p.Glu1054Lys)
|
rs763117647
|
0.00003
|
NM_015662.3(IFT172):c.335C>T (p.Thr112Met)
|
rs191146686
|
0.00003
|
NM_015662.3(IFT172):c.336G>A (p.Thr112=)
|
rs1158316267
|
0.00003
|
NM_015662.3(IFT172):c.357A>G (p.Gln119=)
|
rs749934202
|
0.00003
|
NM_015662.3(IFT172):c.3601G>A (p.Glu1201Lys)
|
rs747872724
|
0.00003
|
NM_015662.3(IFT172):c.4130C>T (p.Ala1377Val)
|
rs376824384
|
0.00003
|
NM_015662.3(IFT172):c.4370G>A (p.Gly1457Asp)
|
rs142312837
|
0.00003
|
NM_015662.3(IFT172):c.4598C>T (p.Thr1533Met)
|
rs202181028
|
0.00003
|
NM_015662.3(IFT172):c.4914G>A (p.Pro1638=)
|
rs374531022
|
0.00003
|
NM_015662.3(IFT172):c.5005G>A (p.Ala1669Thr)
|
rs146575848
|
0.00003
|
NM_015662.3(IFT172):c.5045G>A (p.Arg1682Gln)
|
rs773691500
|
0.00003
|
NM_015662.3(IFT172):c.602A>G (p.Tyr201Cys)
|
rs768237211
|
0.00003
|
NM_015662.3(IFT172):c.631G>A (p.Val211Met)
|
rs757478657
|
0.00003
|
NM_015662.3(IFT172):c.707G>A (p.Arg236His)
|
rs768290728
|
0.00003
|
NM_015662.3(IFT172):c.953G>A (p.Arg318Gln)
|
rs779572697
|
0.00003
|
NM_015662.3(IFT172):c.986C>T (p.Thr329Met)
|
rs568736482
|
0.00003
|
NM_015702.3(MMADHC):c.*267T>C
|
rs546054980
|
0.00003
|
NM_016247.4(IMPG2):c.*3007G>A
|
rs553006996
|
0.00003
|
NM_016247.4(IMPG2):c.*345C>T
|
rs886057684
|
0.00003
|
NM_016247.4(IMPG2):c.*3619C>T
|
rs886057667
|
0.00003
|
NM_016247.4(IMPG2):c.1173C>A (p.His391Gln)
|
rs772639885
|
0.00003
|
NM_016247.4(IMPG2):c.1553A>G (p.Asn518Ser)
|
rs200892260
|
0.00003
|
NM_016247.4(IMPG2):c.2372A>G (p.Glu791Gly)
|
rs752321097
|
0.00003
|
NM_016247.4(IMPG2):c.2531G>A (p.Arg844Gln)
|
rs139105788
|
0.00003
|
NM_016335.6(PRODH):c.1652A>C (p.Tyr551Ser)
|
rs142346005
|
0.00003
|
NM_016335.6(PRODH):c.338T>A (p.Phe113Tyr)
|
rs372030860
|
0.00003
|
NM_016335.6(PRODH):c.391C>T (p.Arg131Trp)
|
rs753625227
|
0.00003
|
NM_016335.6(PRODH):c.80G>T (p.Arg27Leu)
|
rs1411529753
|
0.00003
|
NM_016373.4(WWOX):c.1039C>A (p.Pro347Thr)
|
rs200699154
|
0.00003
|
NM_016373.4(WWOX):c.746G>A (p.Arg249His)
|
rs756703833
|
0.00003
|
NM_016373.4(WWOX):c.953C>T (p.Ser318Leu)
|
rs770023814
|
0.00003
|
NM_016373.4(WWOX):c.995A>C (p.His332Pro)
|
rs775584864
|
0.00003
|
NM_016579.4(CD320):c.731C>T (p.Thr244Ile)
|
rs557939985
|
0.00003
|
NM_017739.4(POMGNT1):c.319C>A (p.Arg107Ser)
|
rs375420073
|
0.00003
|
NM_017739.4(POMGNT1):c.440G>A (p.Arg147His)
|
rs776165339
|
0.00003
|
NM_018368.4(LMBRD1):c.1144A>G (p.Met382Val)
|
rs561540830
|
0.00003
|
NM_018368.4(LMBRD1):c.277A>G (p.Ile93Val)
|
rs771282181
|
0.00003
|
NM_018368.4(LMBRD1):c.417G>A (p.Thr139=)
|
rs934259733
|
0.00003
|
NM_018368.4(LMBRD1):c.545A>G (p.Glu182Gly)
|
rs759703455
|
0.00003
|
NM_018706.7(DHTKD1):c.1093A>T (p.Asn365Tyr)
|
rs747758630
|
0.00003
|
NM_018706.7(DHTKD1):c.2008A>G (p.Asn670Asp)
|
rs149034097
|
0.00003
|
NM_018706.7(DHTKD1):c.2318C>T (p.Pro773Leu)
|
rs200355418
|
0.00003
|
NM_018706.7(DHTKD1):c.2585G>T (p.Ser862Ile)
|
rs145082960
|
0.00003
|
NM_018706.7(DHTKD1):c.305C>T (p.Thr102Met)
|
rs769632958
|
0.00003
|
NM_018706.7(DHTKD1):c.420G>C (p.Gln140His)
|
rs953186201
|
0.00003
|
NM_018706.7(DHTKD1):c.508A>C (p.Met170Leu)
|
rs369465951
|
0.00003
|
NM_018706.7(DHTKD1):c.610G>A (p.Glu204Lys)
|
rs751438050
|
0.00003
|
NM_018706.7(DHTKD1):c.626C>T (p.Ser209Leu)
|
rs780598300
|
0.00003
|
NM_020166.5(MCCC1):c.1262G>A (p.Arg421Gln)
|
rs761249521
|
0.00003
|
NM_020166.5(MCCC1):c.1565T>C (p.Met522Thr)
|
rs768011454
|
0.00003
|
NM_020166.5(MCCC1):c.1715G>C (p.Gly572Ala)
|
rs182830931
|
0.00003
|
NM_020166.5(MCCC1):c.2015A>G (p.Asp672Gly)
|
rs992786696
|
0.00003
|
NM_020166.5(MCCC1):c.2089G>A (p.Val697Met)
|
rs776138490
|
0.00003
|
NM_020166.5(MCCC1):c.559T>C (p.Ser187Pro)
|
rs757362635
|
0.00003
|
NM_020166.5(MCCC1):c.873G>A (p.Ala291=)
|
rs138794621
|
0.00003
|
NM_020208.4(SLC6A20):c.1098+2T>C
|
rs1275324148
|
0.00003
|
NM_020208.4(SLC6A20):c.615C>T (p.Cys205=)
|
rs779053318
|
0.00003
|
NM_020686.6(ABAT):c.*1826C>T
|
rs886052441
|
0.00003
|
NM_020686.6(ABAT):c.*3059C>T
|
rs886052449
|
0.00003
|
NM_020686.6(ABAT):c.1123-15C>T
|
rs376574278
|
0.00003
|
NM_020686.6(ABAT):c.1157C>T (p.Pro386Leu)
|
rs775339966
|
0.00003
|
NM_020686.6(ABAT):c.1349G>A (p.Arg450Gln)
|
rs374692453
|
0.00003
|
NM_020686.6(ABAT):c.168+13C>T
|
rs759610129
|
0.00003
|
NM_020686.6(ABAT):c.331G>A (p.Ala111Thr)
|
rs150783272
|
0.00003
|
NM_020686.6(ABAT):c.561G>C (p.Arg187Ser)
|
rs141279192
|
0.00003
|
NM_020686.6(ABAT):c.56G>A (p.Arg19His)
|
rs780368959
|
0.00003
|
NM_020686.6(ABAT):c.708C>T (p.Ile236=)
|
rs778110660
|
0.00003
|
NM_020686.6(ABAT):c.771G>C (p.Glu257Asp)
|
rs369478103
|
0.00003
|
NM_020686.6(ABAT):c.857C>T (p.Thr286Met)
|
rs778229930
|
0.00003
|
NM_022132.5(MCCC2):c.*1539G>T
|
rs1031741545
|
0.00003
|
NM_022132.5(MCCC2):c.*719del
|
rs886060742
|
0.00003
|
NM_022132.5(MCCC2):c.1206A>G (p.Gln402=)
|
rs749406136
|
0.00003
|
NM_022132.5(MCCC2):c.1344A>G (p.Gly448=)
|
rs201238842
|
0.00003
|
NM_022132.5(MCCC2):c.1504G>C (p.Glu502Gln)
|
rs767326357
|
0.00003
|
NM_022132.5(MCCC2):c.637A>G (p.Met213Val)
|
rs769875413
|
0.00003
|
NM_022132.5(MCCC2):c.700C>T (p.Arg234Cys)
|
rs549784997
|
0.00003
|
NM_022132.5(MCCC2):c.864G>A (p.Arg288=)
|
rs368236133
|
0.00003
|
NM_025136.4(OPA3):c.*1214G>A
|
rs368652706
|
0.00003
|
NM_025136.4(OPA3):c.*1693C>T
|
rs904110306
|
0.00003
|
NM_025136.4(OPA3):c.*2089T>C
|
rs886054529
|
0.00003
|
NM_025136.4(OPA3):c.*3128C>G
|
rs143702010
|
0.00003
|
NM_025136.4(OPA3):c.*3754C>T
|
rs981647131
|
0.00003
|
NM_025136.4(OPA3):c.143-5C>A
|
rs770452409
|
0.00003
|
NM_025136.4(OPA3):c.526G>A (p.Ala176Thr)
|
rs755841329
|
0.00003
|
NM_031885.5(BBS2):c.1120C>T (p.Arg374Trp)
|
rs143607562
|
0.00003
|
NM_031885.5(BBS2):c.1223A>G (p.Asn408Ser)
|
rs761864599
|
0.00003
|
NM_031885.5(BBS2):c.1615C>T (p.Arg539Trp)
|
rs1175381219
|
0.00003
|
NM_031885.5(BBS2):c.1928G>A (p.Arg643His)
|
rs532361142
|
0.00003
|
NM_031885.5(BBS2):c.380C>G (p.Thr127Arg)
|
rs1191790453
|
0.00003
|
NM_031885.5(BBS2):c.635T>C (p.Met212Thr)
|
rs764600063
|
0.00003
|
NM_032601.4(MCEE):c.10G>T (p.Val4Leu)
|
rs202194538
|
0.00003
|
NM_032601.4(MCEE):c.166C>T (p.Pro56Ser)
|
rs187576440
|
0.00003
|
NM_032861.4(SERAC1):c.1292C>T (p.Thr431Met)
|
rs779852958
|
0.00003
|
NM_032861.4(SERAC1):c.1828+3A>G
|
rs773193644
|
0.00003
|
NM_032861.4(SERAC1):c.329C>T (p.Ala110Val)
|
rs368403843
|
0.00003
|
NM_033100.4(CDHR1):c.*1082A>C
|
rs886047340
|
0.00003
|
NM_033100.4(CDHR1):c.*2428G>A
|
rs886047347
|
0.00003
|
NM_033100.4(CDHR1):c.*2560C>T
|
rs886047348
|
0.00003
|
NM_033100.4(CDHR1):c.1464C>T (p.Gly488=)
|
rs193142630
|
0.00003
|
NM_033100.4(CDHR1):c.628G>A (p.Val210Met)
|
rs774747506
|
0.00003
|
NM_033100.4(CDHR1):c.784-4C>T
|
rs768106524
|
0.00003
|
NM_033100.4(CDHR1):c.983C>T (p.Ala328Val)
|
rs749657135
|
0.00003
|
NM_052845.4(MMAB):c.*1428C>T
|
rs757325398
|
0.00003
|
NM_052845.4(MMAB):c.*2739C>T
|
rs759550993
|
0.00003
|
NM_052845.4(MMAB):c.316A>G (p.Lys106Glu)
|
rs765917146
|
0.00003
|
NM_052845.4(MMAB):c.370G>A (p.Val124Ile)
|
rs573706523
|
0.00003
|
NM_052845.4(MMAB):c.377C>T (p.Ser126Leu)
|
rs771053425
|
0.00003
|
NM_052845.4(MMAB):c.539C>T (p.Ser180Leu)
|
rs368584846
|
0.00003
|
NM_052845.4(MMAB):c.583C>T (p.Arg195Cys)
|
rs199853576
|
0.00003
|
NM_052845.4(MMAB):c.732G>A (p.Ser244=)
|
rs186864802
|
0.00003
|
NM_054012.3(ASS1):c.-101C>G
|
rs886063531
|
0.00003
|
NM_054012.3(ASS1):c.-278G>T
|
rs563156422
|
0.00003
|
NM_054012.4(ASS1):c.*110C>T
|
rs893210689
|
0.00003
|
NM_054012.4(ASS1):c.151G>A (p.Ala51Thr)
|
rs142350255
|
0.00003
|
NM_054012.4(ASS1):c.175-4G>A
|
rs370817871
|
0.00003
|
NM_054012.4(ASS1):c.190G>A (p.Val64Ile)
|
rs556297791
|
0.00003
|
NM_054012.4(ASS1):c.298C>T (p.Arg100Cys)
|
rs370695114
|
0.00003
|
NM_054012.4(ASS1):c.607C>A (p.Pro203Thr)
|
rs147858743
|
0.00003
|
NM_054012.4(ASS1):c.772G>A (p.Ala258Thr)
|
rs765748014
|
0.00003
|
NM_054012.4(ASS1):c.786C>T (p.Gly262=)
|
rs536799104
|
0.00003
|
NM_058179.4(PSAT1):c.*241C>A
|
rs1057515673
|
0.00003
|
NM_058179.4(PSAT1):c.1025G>A (p.Arg342Gln)
|
rs748711682
|
0.00003
|
NM_058179.4(PSAT1):c.1111T>C (p.Ter371Arg)
|
rs756701004
|
0.00003
|
NM_058179.4(PSAT1):c.338A>T (p.Glu113Val)
|
rs373888510
|
0.00003
|
NM_058179.4(PSAT1):c.43G>C (p.Ala15Pro)
|
rs774962204
|
0.00003
|
NM_058179.4(PSAT1):c.467C>T (p.Thr156Met)
|
rs369944396
|
0.00003
|
NM_058179.4(PSAT1):c.478G>A (p.Val160Met)
|
rs765810685
|
0.00003
|
NM_058179.4(PSAT1):c.748G>A (p.Val250Ile)
|
rs368071286
|
0.00003
|
NM_144596.4(TTC8):c.980A>G (p.Glu327Gly)
|
rs749721461
|
0.00003
|
NM_145261.4(DNAJC19):c.59G>A (p.Arg20His)
|
rs756192515
|
0.00003
|
NM_152419.3(HGSNAT):c.1093C>T (p.Leu365Phe)
|
rs995331214
|
0.00003
|
NM_152419.3(HGSNAT):c.1127C>T (p.Ser376Leu)
|
rs762498109
|
0.00003
|
NM_152419.3(HGSNAT):c.1441G>T (p.Val481Leu)
|
rs746875137
|
0.00003
|
NM_152419.3(HGSNAT):c.317A>G (p.Gln106Arg)
|
rs368082613
|
0.00003
|
NM_152419.3(HGSNAT):c.328A>G (p.Ile110Val)
|
rs138736400
|
0.00003
|
NM_152419.3(HGSNAT):c.907C>T (p.Arg303Trp)
|
rs375524490
|
0.00003
|
NM_152542.5(PPM1K):c.110C>T (p.Thr37Met)
|
rs537053098
|
0.00003
|
NM_153006.3(NAGS):c.376C>A (p.Gln126Lys)
|
rs942089643
|
0.00003
|
NM_153006.3(NAGS):c.80G>A (p.Gly27Asp)
|
rs755538430
|
0.00003
|
NM_172250.3(MMAA):c.*1273C>T
|
rs1001420347
|
0.00003
|
NM_172250.3(MMAA):c.*1779T>C
|
rs886059097
|
0.00003
|
NM_172250.3(MMAA):c.*1940T>C
|
rs1054381866
|
0.00003
|
NM_172250.3(MMAA):c.*3801A>G
|
rs886059116
|
0.00003
|
NM_172250.3(MMAA):c.*4457A>G
|
rs896375111
|
0.00003
|
NM_172250.3(MMAA):c.-71G>C
|
rs992491091
|
0.00003
|
NM_172250.3(MMAA):c.587G>A (p.Arg196Gln)
|
rs144389160
|
0.00003
|
NM_172250.3(MMAA):c.787C>T (p.Leu263=)
|
rs759947234
|
0.00003
|
NM_177550.5(SLC13A5):c.1172T>C (p.Phe391Ser)
|
rs777258503
|
0.00003
|
NM_177550.5(SLC13A5):c.1334C>T (p.Pro445Leu)
|
rs558866003
|
0.00003
|
NM_177550.5(SLC13A5):c.1450G>A (p.Gly484Ser)
|
rs779942374
|
0.00003
|
NM_177550.5(SLC13A5):c.1645C>T (p.Arg549Trp)
|
rs770090939
|
0.00003
|
NM_177550.5(SLC13A5):c.305G>A (p.Arg102His)
|
rs764688100
|
0.00003
|
NM_177550.5(SLC13A5):c.499G>A (p.Glu167Lys)
|
rs373010067
|
0.00003
|
NM_177550.5(SLC13A5):c.602G>A (p.Arg201Gln)
|
rs200275193
|
0.00003
|
NM_177550.5(SLC13A5):c.877A>G (p.Lys293Glu)
|
rs759034052
|
0.00003
|
NM_177550.5(SLC13A5):c.998G>A (p.Arg333Gln)
|
rs1379095103
|
0.00003
|
NM_177965.4(CFAP418):c.254C>T (p.Ser85Phe)
|
rs764463463
|
0.00003
|
NM_183050.4(BCKDHB):c.33_34del (p.Leu12fs)
|
rs398124572
|
0.00003
|
NM_183050.4(BCKDHB):c.5C>T (p.Ala2Val)
|
rs769876670
|
0.00003
|
NM_201253.3(CRB1):c.2305C>T (p.Arg769Cys)
|
rs746307301
|
0.00003
|
NM_201253.3(CRB1):c.263C>T (p.Thr88Ile)
|
rs201893755
|
0.00003
|
NM_201253.3(CRB1):c.2813A>C (p.Gln938Pro)
|
rs751018219
|
0.00003
|
NM_201253.3(CRB1):c.2874C>T (p.Ser958=)
|
rs372778560
|
0.00003
|
NM_201253.3(CRB1):c.3625G>A (p.Val1209Met)
|
rs201349525
|
0.00003
|
NM_201253.3(CRB1):c.3683C>A (p.Thr1228Asn)
|
rs147924782
|
0.00003
|
NM_201253.3(CRB1):c.3856C>T (p.Arg1286Trp)
|
rs754054234
|
0.00003
|
NM_201253.3(CRB1):c.580C>T (p.Pro194Ser)
|
rs772447283
|
0.00003
|
NM_201548.5(CERKL):c.*743G>A
|
rs201433997
|
0.00003
|
NM_201548.5(CERKL):c.*869C>T
|
rs886055314
|
0.00003
|
NM_201548.5(CERKL):c.1596G>A (p.Lys532=)
|
rs752334385
|
0.00003
|
NM_201548.5(CERKL):c.770G>A (p.Arg257Gln)
|
rs762961333
|
0.00003
|
NM_205861.3(DHDDS):c.*1439C>G
|
rs980945484
|
0.00003
|
NM_205861.3(DHDDS):c.271G>C (p.Asp91His)
|
rs773154382
|
0.00003
|
NM_205861.3(DHDDS):c.292C>T (p.Arg98Trp)
|
rs754564043
|
0.00003
|
NM_205861.3(DHDDS):c.308G>A (p.Arg103His)
|
rs115712846
|
0.00003
|
NM_205861.3(DHDDS):c.404T>C (p.Ile135Thr)
|
rs200277808
|
0.00003
|
NM_205861.3(DHDDS):c.688G>A (p.Val230Ile)
|
rs143075758
|
0.00003
|
NM_205861.3(DHDDS):c.74T>G (p.Met25Arg)
|
rs751817404
|
0.00003
|
NM_206933.4(USH2A):c.10358C>G (p.Thr3453Arg)
|
rs375485721
|
0.00003
|
NM_206933.4(USH2A):c.10387+5C>G
|
rs746536041
|
0.00003
|
NM_206933.4(USH2A):c.10634G>A (p.Arg3545Gln)
|
rs375978706
|
0.00003
|
NM_206933.4(USH2A):c.10922G>A (p.Arg3641Lys)
|
rs397517969
|
0.00003
|
NM_206933.4(USH2A):c.12701C>T (p.Thr4234Met)
|
rs564240175
|
0.00003
|
NM_206933.4(USH2A):c.13250A>G (p.Tyr4417Cys)
|
rs794727826
|
0.00003
|
NM_206933.4(USH2A):c.13732A>G (p.Lys4578Glu)
|
rs765354805
|
0.00003
|
NM_206933.4(USH2A):c.13832C>T (p.Ala4611Val)
|
rs376077079
|
0.00003
|
NM_206933.4(USH2A):c.15499A>G (p.Met5167Val)
|
rs755573653
|
0.00003
|
NM_206933.4(USH2A):c.1585A>C (p.Thr529Pro)
|
rs201332729
|
0.00003
|
NM_206933.4(USH2A):c.3532C>G (p.Pro1178Ala)
|
rs372081834
|
0.00003
|
NM_206933.4(USH2A):c.3584G>T (p.Cys1195Phe)
|
rs727504652
|
0.00003
|
NM_206933.4(USH2A):c.4169C>G (p.Thr1390Arg)
|
rs370430107
|
0.00003
|
NM_206933.4(USH2A):c.4627+686T>A
|
rs977631162
|
0.00003
|
NM_206933.4(USH2A):c.5051C>T (p.Pro1684Leu)
|
rs771088957
|
0.00003
|
NM_206933.4(USH2A):c.5842C>T (p.Arg1948Cys)
|
rs145647517
|
0.00003
|
NM_206933.4(USH2A):c.5941A>G (p.Arg1981Gly)
|
rs775877218
|
0.00003
|
NM_206933.4(USH2A):c.6043C>T (p.Leu2015Phe)
|
rs370597096
|
0.00003
|
NM_206933.4(USH2A):c.7027C>T (p.Arg2343Trp)
|
rs149606872
|
0.00003
|
NM_206933.4(USH2A):c.7451+3G>A
|
rs397518030
|
0.00003
|
NM_206933.4(USH2A):c.821G>A (p.Arg274Gln)
|
rs727504721
|
0.00003
|
NM_206933.4(USH2A):c.9244A>G (p.Ile3082Val)
|
rs527689947
|
0.00003
|
NM_206933.4(USH2A):c.9291A>C (p.Lys3097Asn)
|
rs143872133
|
0.00003
|
NM_206933.4(USH2A):c.9355C>T (p.Arg3119Cys)
|
rs576236830
|
0.00003
|
NM_206933.4(USH2A):c.9583G>A (p.Gly3195Arg)
|
rs149027999
|
0.00003
|
NM_206933.4(USH2A):c.9842G>T (p.Cys3281Phe)
|
rs727504654
|
0.00003
|
NM_206933.4(USH2A):c.9882C>G (p.Cys3294Trp)
|
rs749228276
|
0.00003
|
NM_206933.4(USH2A):c.9998A>G (p.Asp3333Gly)
|
rs769233119
|
0.00003
|
NC_000022.11:g.40345716C>T
|
rs978423465
|
0.00002
|
NC_000022.11:g.40346060T>C
|
rs998527385
|
0.00002
|
NC_000022.11:g.40346240T>C
|
rs752718206
|
0.00002
|
NC_000022.11:g.40346280T>A
|
rs1301796620
|
0.00002
|
NC_000022.11:g.40346408C>A
|
rs962543409
|
0.00002
|
NC_000022.11:g.40346417C>T
|
rs951357741
|
0.00002
|
NM_000016.5(ACADM):c.-304A>G
|
rs886046521
|
0.00002
|
NM_000016.6(ACADM):c.1125A>G (p.Ile375Met)
|
rs201809827
|
0.00002
|
NM_000016.6(ACADM):c.134A>G (p.Gln45Arg)
|
rs757434857
|
0.00002
|
NM_000016.6(ACADM):c.158G>A (p.Arg53His)
|
rs754938068
|
0.00002
|
NM_000016.6(ACADM):c.238A>G (p.Arg80Gly)
|
rs758476299
|
0.00002
|
NM_000016.6(ACADM):c.276A>G (p.Pro92=)
|
rs1212443202
|
0.00002
|
NM_000016.6(ACADM):c.393G>A (p.Met131Ile)
|
rs368773005
|
0.00002
|
NM_000016.6(ACADM):c.668T>C (p.Ile223Thr)
|
rs758111285
|
0.00002
|
NM_000016.6(ACADM):c.709-13A>G
|
rs746483754
|
0.00002
|
NM_000016.6(ACADM):c.927C>T (p.Phe309=)
|
rs771550655
|
0.00002
|
NM_000017.4(ACADS):c.1105G>A (p.Gly369Ser)
|
rs145466253
|
0.00002
|
NM_000017.4(ACADS):c.1231C>T (p.Arg411Trp)
|
rs369416846
|
0.00002
|
NM_000017.4(ACADS):c.161T>C (p.Phe54Ser)
|
rs749775207
|
0.00002
|
NM_000017.4(ACADS):c.226G>A (p.Gly76Arg)
|
rs774801839
|
0.00002
|
NM_000017.4(ACADS):c.497C>T (p.Ala166Val)
|
rs1022406482
|
0.00002
|
NM_000017.4(ACADS):c.778G>T (p.Gly260Cys)
|
rs759856061
|
0.00002
|
NM_000017.4(ACADS):c.826G>A (p.Ala276Thr)
|
rs199717731
|
0.00002
|
NM_000018.4(ACADVL):c.-72_-71insGAGGACGTGGGCGTG
|
rs1555527381
|
0.00002
|
NM_000018.4(ACADVL):c.1024T>C (p.Phe342Leu)
|
rs1356652354
|
0.00002
|
NM_000018.4(ACADVL):c.1077G>A (p.Ala359=)
|
rs779458466
|
0.00002
|
NM_000018.4(ACADVL):c.1154G>A (p.Arg385Gln)
|
rs772014118
|
0.00002
|
NM_000018.4(ACADVL):c.1177A>G (p.Thr393Ala)
|
rs199840831
|
0.00002
|
NM_000018.4(ACADVL):c.1236G>C (p.Gln412His)
|
rs745355288
|
0.00002
|
NM_000018.4(ACADVL):c.1366C>T (p.Arg456Cys)
|
rs794727111
|
0.00002
|
NM_000018.4(ACADVL):c.1504C>G (p.Leu502Val)
|
rs779901247
|
0.00002
|
NM_000018.4(ACADVL):c.1555C>G (p.Leu519Val)
|
rs781063725
|
0.00002
|
NM_000018.4(ACADVL):c.1915A>C (p.Lys639Gln)
|
rs771122302
|
0.00002
|
NM_000018.4(ACADVL):c.340G>A (p.Glu114Lys)
|
rs557260142
|
0.00002
|
NM_000018.4(ACADVL):c.457G>T (p.Val153Leu)
|
rs894284973
|
0.00002
|
NM_000018.4(ACADVL):c.477+8C>T
|
rs1437698813
|
0.00002
|
NM_000018.4(ACADVL):c.478-44C>T
|
rs754668930
|
0.00002
|
NM_000018.4(ACADVL):c.485G>A (p.Arg162His)
|
rs754756970
|
0.00002
|
NM_000018.4(ACADVL):c.499G>A (p.Val167Met)
|
rs199991742
|
0.00002
|
NM_000018.4(ACADVL):c.519C>T (p.Gly173=)
|
rs757830946
|
0.00002
|
NM_000018.4(ACADVL):c.709T>C (p.Cys237Arg)
|
rs1189763523
|
0.00002
|
NM_000018.4(ACADVL):c.858G>A (p.Arg286=)
|
rs531514327
|
0.00002
|
NM_000018.4(ACADVL):c.940G>A (p.Gly314Arg)
|
rs775669454
|
0.00002
|
NM_000018.4(ACADVL):c.957G>A (p.Ser319=)
|
rs143870522
|
0.00002
|
NM_000018.4(ACADVL):c.963C>T (p.Asn321=)
|
rs568118142
|
0.00002
|
NM_000019.3(ACAT1):c.*365C>T
|
rs145398051
|
0.00002
|
NM_000019.3(ACAT1):c.*393A>G
|
rs886047601
|
0.00002
|
NM_000019.4(ACAT1):c.765A>T (p.Glu255Asp)
|
rs794727893
|
0.00002
|
NM_000019.4(ACAT1):c.776T>C (p.Val259Ala)
|
rs746059964
|
0.00002
|
NM_000019.4(ACAT1):c.990A>G (p.Val330=)
|
rs764361167
|
0.00002
|
NM_000026.4(ADSL):c.1053A>G (p.Ile351Met)
|
rs151095874
|
0.00002
|
NM_000026.4(ADSL):c.1061C>T (p.Thr354Met)
|
rs752238667
|
0.00002
|
NM_000026.4(ADSL):c.1106T>C (p.Ile369Thr)
|
rs755688868
|
0.00002
|
NM_000026.4(ADSL):c.1212A>C (p.Arg404Ser)
|
rs781253590
|
0.00002
|
NM_000026.4(ADSL):c.1264G>T (p.Asp422Tyr)
|
rs119450943
|
0.00002
|
NM_000026.4(ADSL):c.129G>C (p.Trp43Cys)
|
rs770916318
|
0.00002
|
NM_000026.4(ADSL):c.20A>G (p.His7Arg)
|
rs377248090
|
0.00002
|
NM_000026.4(ADSL):c.262G>T (p.Val88Leu)
|
rs1329100297
|
0.00002
|
NM_000026.4(ADSL):c.49C>T (p.Leu17Phe)
|
rs1262658484
|
0.00002
|
NM_000026.4(ADSL):c.541A>G (p.Met181Val)
|
rs768542145
|
0.00002
|
NM_000026.4(ADSL):c.623T>A (p.Phe208Tyr)
|
rs776615568
|
0.00002
|
NM_000026.4(ADSL):c.769A>G (p.Ser257Gly)
|
rs775115015
|
0.00002
|
NM_000026.4(ADSL):c.7G>A (p.Ala3Thr)
|
rs1389806424
|
0.00002
|
NM_000026.4(ADSL):c.887G>A (p.Arg296Gln)
|
rs755059672
|
0.00002
|
NM_000026.4(ADSL):c.898C>A (p.Arg300Ser)
|
rs369617680
|
0.00002
|
NM_000026.4(ADSL):c.985C>T (p.Arg329Cys)
|
rs370221257
|
0.00002
|
NM_000045.4(ARG1):c.289C>G (p.Leu97Val)
|
rs760319794
|
0.00002
|
NM_000045.4(ARG1):c.349G>A (p.Asp117Asn)
|
rs754655577
|
0.00002
|
NM_000045.4(ARG1):c.541G>T (p.Asp181Tyr)
|
rs1472741630
|
0.00002
|
NM_000045.4(ARG1):c.923G>A (p.Arg308Gln)
|
rs377280518
|
0.00002
|
NM_000045.4(ARG1):c.959C>T (p.Pro320Leu)
|
rs1278453710
|
0.00002
|
NM_000048.4(ASL):c.1127A>G (p.Tyr376Cys)
|
rs761034915
|
0.00002
|
NM_000048.4(ASL):c.1165G>A (p.Glu389Lys)
|
rs1465800300
|
0.00002
|
NM_000048.4(ASL):c.1262C>T (p.Ser421Leu)
|
rs148669165
|
0.00002
|
NM_000048.4(ASL):c.243G>C (p.Leu81=)
|
rs774204716
|
0.00002
|
NM_000048.4(ASL):c.326C>T (p.Thr109Met)
|
rs146123574
|
0.00002
|
NM_000048.4(ASL):c.62T>C (p.Met21Thr)
|
rs774392615
|
0.00002
|
NM_000048.4(ASL):c.638G>A (p.Arg213Gln)
|
rs1449589636
|
0.00002
|
NM_000048.4(ASL):c.77C>T (p.Ala26Val)
|
rs761046404
|
0.00002
|
NM_000048.4(ASL):c.918+5G>A
|
rs781331391
|
0.00002
|
NM_000048.4(ASL):c.919-4G>A
|
rs756230523
|
0.00002
|
NM_000071.3(CBS):c.1337C>T (p.Ala446Val)
|
rs757347527
|
0.00002
|
NM_000071.3(CBS):c.1342G>A (p.Val448Met)
|
rs865989946
|
0.00002
|
NM_000071.3(CBS):c.301C>G (p.Leu101Val)
|
rs369644531
|
0.00002
|
NM_000071.3(CBS):c.545G>A (p.Arg182Gln)
|
rs138314784
|
0.00002
|
NM_000071.3(CBS):c.599C>T (p.Pro200Leu)
|
rs758712880
|
0.00002
|
NM_000071.3(CBS):c.637G>A (p.Glu213Lys)
|
rs758703098
|
0.00002
|
NM_000071.3(CBS):c.921C>G (p.Gly307=)
|
rs147875876
|
0.00002
|
NM_000071.3(CBS):c.925G>A (p.Asp309Asn)
|
rs540013184
|
0.00002
|
NM_000108.5(DLD):c.*355A>G
|
rs886061910
|
0.00002
|
NM_000108.5(DLD):c.1439T>C (p.Ile480Thr)
|
rs140260331
|
0.00002
|
NM_000108.5(DLD):c.1440A>G (p.Ile480Met)
|
rs772512477
|
0.00002
|
NM_000108.5(DLD):c.1503G>A (p.Ala501=)
|
rs766286119
|
0.00002
|
NM_000108.5(DLD):c.226C>T (p.Leu76Phe)
|
rs967089304
|
0.00002
|
NM_000108.5(DLD):c.597A>T (p.Thr199=)
|
rs768248572
|
0.00002
|
NM_000108.5(DLD):c.677T>C (p.Val226Ala)
|
rs750449027
|
0.00002
|
NM_000108.5(DLD):c.901G>A (p.Ala301Thr)
|
rs1466290130
|
0.00002
|
NM_000116.5(TAFAZZIN):c.*33G>A
|
rs782129745
|
0.00002
|
NM_000116.5(TAFAZZIN):c.13G>T (p.Val5Leu)
|
rs397515737
|
0.00002
|
NM_000116.5(TAFAZZIN):c.154G>A (p.Glu52Lys)
|
rs794729166
|
0.00002
|
NM_000116.5(TAFAZZIN):c.254G>A (p.Arg85His)
|
rs782196269
|
0.00002
|
NM_000116.5(TAFAZZIN):c.331C>T (p.His111Tyr)
|
rs200405157
|
0.00002
|
NM_000116.5(TAFAZZIN):c.351G>A (p.Lys117=)
|
rs782564325
|
0.00002
|
NM_000116.5(TAFAZZIN):c.407G>T (p.Gly136Val)
|
rs782240044
|
0.00002
|
NM_000116.5(TAFAZZIN):c.437G>T (p.Gly146Val)
|
rs782401618
|
0.00002
|
NM_000116.5(TAFAZZIN):c.469G>A (p.Val157Ile)
|
rs782173851
|
0.00002
|
NM_000116.5(TAFAZZIN):c.606G>C (p.Glu202Asp)
|
rs781893396
|
0.00002
|
NM_000116.5(TAFAZZIN):c.768C>G (p.Asn256Lys)
|
rs926124671
|
0.00002
|
NM_000116.5(TAFAZZIN):c.779T>G (p.Val260Gly)
|
rs782746355
|
0.00002
|
NM_000126.4(ETFA):c.148G>A (p.Glu50Lys)
|
rs780880209
|
0.00002
|
NM_000126.4(ETFA):c.919A>G (p.Ile307Val)
|
rs373896010
|
0.00002
|
NM_000126.4(ETFA):c.964-1G>C
|
rs757885420
|
0.00002
|
NM_000126.4(ETFA):c.967G>A (p.Val323Ile)
|
rs1225887341
|
0.00002
|
NM_000137.4(FAH):c.*129T>C
|
rs968507766
|
0.00002
|
NM_000137.4(FAH):c.1102A>C (p.Lys368Gln)
|
rs770665329
|
0.00002
|
NM_000137.4(FAH):c.341C>T (p.Thr114Met)
|
rs772014160
|
0.00002
|
NM_000137.4(FAH):c.391C>T (p.Arg131Trp)
|
rs147946196
|
0.00002
|
NM_000137.4(FAH):c.398A>T (p.His133Leu)
|
rs775152764
|
0.00002
|
NM_000137.4(FAH):c.567A>G (p.Val189=)
|
rs750785945
|
0.00002
|
NM_000137.4(FAH):c.696C>T (p.Asn232=)
|
rs533540262
|
0.00002
|
NM_000137.4(FAH):c.89C>T (p.Pro30Leu)
|
rs776178600
|
0.00002
|
NM_000156.6(GAMT):c.118C>T (p.Pro40Ser)
|
rs11551914
|
0.00002
|
NM_000156.6(GAMT):c.16G>A (p.Ala6Thr)
|
rs1176129507
|
0.00002
|
NM_000156.6(GAMT):c.187C>T (p.Arg63Trp)
|
rs777102623
|
0.00002
|
NM_000156.6(GAMT):c.189G>C (p.Arg63=)
|
rs568392459
|
0.00002
|
NM_000156.6(GAMT):c.217A>G (p.Ile73Val)
|
rs771107085
|
0.00002
|
NM_000156.6(GAMT):c.220G>A (p.Ala74Thr)
|
rs749284008
|
0.00002
|
NM_000156.6(GAMT):c.225G>A (p.Ala75=)
|
rs202151546
|
0.00002
|
NM_000156.6(GAMT):c.328G>T (p.Val110Phe)
|
rs753198836
|
0.00002
|
NM_000156.6(GAMT):c.344G>A (p.Gly115Asp)
|
rs750625814
|
0.00002
|
NM_000156.6(GAMT):c.379G>A (p.Gly127Ser)
|
rs570476209
|
0.00002
|
NM_000156.6(GAMT):c.415C>T (p.Leu139Phe)
|
rs1300612017
|
0.00002
|
NM_000156.6(GAMT):c.41A>G (p.Glu14Gly)
|
rs1223870636
|
0.00002
|
NM_000156.6(GAMT):c.472C>T (p.Arg158Cys)
|
rs758217156
|
0.00002
|
NM_000156.6(GAMT):c.493G>A (p.Val165Ile)
|
rs1050914
|
0.00002
|
NM_000156.6(GAMT):c.661C>T (p.Arg221Cys)
|
rs751894166
|
0.00002
|
NM_000159.4(GCDH):c.*96G>T
|
rs376487828
|
0.00002
|
NM_000159.4(GCDH):c.1083-10C>T
|
rs756372984
|
0.00002
|
NM_000159.4(GCDH):c.1298C>T (p.Ala433Val)
|
rs933624223
|
0.00002
|
NM_000159.4(GCDH):c.1315T>C (p.Ter439Arg)
|
rs771126053
|
0.00002
|
NM_000159.4(GCDH):c.218C>T (p.Thr73Ile)
|
rs766884691
|
0.00002
|
NM_000159.4(GCDH):c.536T>G (p.Leu179Arg)
|
rs774526353
|
0.00002
|
NM_000159.4(GCDH):c.641C>T (p.Thr214Met)
|
rs1131692030
|
0.00002
|
NM_000159.4(GCDH):c.658G>A (p.Asp220Asn)
|
rs375357230
|
0.00002
|
NM_000159.4(GCDH):c.727C>T (p.Arg243Trp)
|
rs549254182
|
0.00002
|
NM_000159.4(GCDH):c.937C>T (p.Arg313Trp)
|
rs779315456
|
0.00002
|
NM_000161.3(GCH1):c.*34C>T
|
rs757193609
|
0.00002
|
NM_000161.3(GCH1):c.193G>C (p.Glu65Gln)
|
rs1281386674
|
0.00002
|
NM_000161.3(GCH1):c.195G>A (p.Glu65=)
|
rs139350456
|
0.00002
|
NM_000161.3(GCH1):c.299C>T (p.Ser100Leu)
|
rs527416949
|
0.00002
|
NM_000161.3(GCH1):c.662T>C (p.Met221Thr)
|
rs104894434
|
0.00002
|
NM_000161.3(GCH1):c.737C>T (p.Thr246Ile)
|
rs989328098
|
0.00002
|
NM_000161.3(GCH1):c.83C>T (p.Pro28Leu)
|
rs774568081
|
0.00002
|
NM_000161.3(GCH1):c.89C>G (p.Pro30Arg)
|
rs1477733062
|
0.00002
|
NM_000170.3(GLDC):c.*546C>T
|
rs768890473
|
0.00002
|
NM_000170.3(GLDC):c.1342G>C (p.Glu448Gln)
|
rs777365335
|
0.00002
|
NM_000170.3(GLDC):c.142G>T (p.Gly48Trp)
|
rs1057515608
|
0.00002
|
NM_000170.3(GLDC):c.1430A>G (p.Asn477Ser)
|
rs372136194
|
0.00002
|
NM_000170.3(GLDC):c.1433A>C (p.Glu478Ala)
|
rs751588571
|
0.00002
|
NM_000170.3(GLDC):c.1501A>G (p.Met501Val)
|
rs748216955
|
0.00002
|
NM_000170.3(GLDC):c.1510G>C (p.Glu504Gln)
|
rs1038321056
|
0.00002
|
NM_000170.3(GLDC):c.1580+5G>C
|
rs764790596
|
0.00002
|
NM_000170.3(GLDC):c.1702C>G (p.Leu568Val)
|
rs760181670
|
0.00002
|
NM_000170.3(GLDC):c.1750C>T (p.Pro584Ser)
|
rs1001664445
|
0.00002
|
NM_000170.3(GLDC):c.1785C>G (p.Phe595Leu)
|
rs201997592
|
0.00002
|
NM_000170.3(GLDC):c.1870G>A (p.Ala624Thr)
|
rs143653301
|
0.00002
|
NM_000170.3(GLDC):c.2048C>G (p.Ala683Gly)
|
rs1324189699
|
0.00002
|
NM_000170.3(GLDC):c.2243C>T (p.Ser748Leu)
|
rs769035358
|
0.00002
|
NM_000170.3(GLDC):c.2809C>T (p.Arg937Cys)
|
rs766928717
|
0.00002
|
NM_000170.3(GLDC):c.2818C>T (p.Pro940Ser)
|
rs559923220
|
0.00002
|
NM_000170.3(GLDC):c.290C>T (p.Ala97Val)
|
rs917975796
|
0.00002
|
NM_000170.3(GLDC):c.2966T>C (p.Ile989Thr)
|
rs149336868
|
0.00002
|
NM_000170.3(GLDC):c.299G>A (p.Arg100His)
|
rs1470245998
|
0.00002
|
NM_000170.3(GLDC):c.445C>T (p.Arg149Trp)
|
rs183024300
|
0.00002
|
NM_000170.3(GLDC):c.670C>T (p.Arg224Cys)
|
rs755436133
|
0.00002
|
NM_000170.3(GLDC):c.716A>G (p.Tyr239Cys)
|
rs781364515
|
0.00002
|
NM_000170.3(GLDC):c.746C>T (p.Pro249Leu)
|
rs754710330
|
0.00002
|
NM_000170.3(GLDC):c.755T>C (p.Met252Thr)
|
rs766114667
|
0.00002
|
NM_000170.3(GLDC):c.829A>T (p.Thr277Ser)
|
rs372595899
|
0.00002
|
NM_000170.3(GLDC):c.935T>C (p.Ile312Thr)
|
rs761921284
|
0.00002
|
NM_000182.5(HADHA):c.1418C>A (p.Ala473Asp)
|
rs772166712
|
0.00002
|
NM_000182.5(HADHA):c.1507G>A (p.Val503Met)
|
rs138386385
|
0.00002
|
NM_000182.5(HADHA):c.1596G>C (p.Gln532His)
|
rs1004898768
|
0.00002
|
NM_000182.5(HADHA):c.1794T>C (p.His598=)
|
rs149021400
|
0.00002
|
NM_000182.5(HADHA):c.1823G>C (p.Gly608Ala)
|
rs1277103504
|
0.00002
|
NM_000182.5(HADHA):c.1889G>A (p.Arg630His)
|
rs150850348
|
0.00002
|
NM_000182.5(HADHA):c.1912A>G (p.Ile638Val)
|
rs545660610
|
0.00002
|
NM_000182.5(HADHA):c.1925G>T (p.Gly642Val)
|
rs766188621
|
0.00002
|
NM_000182.5(HADHA):c.199G>C (p.Glu67Gln)
|
rs781303622
|
0.00002
|
NM_000182.5(HADHA):c.2114T>A (p.Val705Asp)
|
rs1240187200
|
0.00002
|
NM_000182.5(HADHA):c.386A>G (p.Lys129Arg)
|
rs769625802
|
0.00002
|
NM_000182.5(HADHA):c.560G>C (p.Arg187Thr)
|
rs146667859
|
0.00002
|
NM_000182.5(HADHA):c.677-3T>C
|
rs376306806
|
0.00002
|
NM_000182.5(HADHA):c.677G>A (p.Gly226Glu)
|
rs143919136
|
0.00002
|
NM_000182.5(HADHA):c.955G>A (p.Gly319Ser)
|
rs752317877
|
0.00002
|
NM_000187.4(HGD):c.58C>T (p.Arg20Cys)
|
rs755454185
|
0.00002
|
NM_000188.3(HK1):c.949G>A (p.Gly317Ser)
|
rs202028638
|
0.00002
|
NM_000191.2(HMGCL):c.-41G>C
|
rs886046315
|
0.00002
|
NM_000191.3(HMGCL):c.*366G>A
|
rs1470010250
|
0.00002
|
NM_000191.3(HMGCL):c.184A>G (p.Met62Val)
|
rs373738626
|
0.00002
|
NM_000191.3(HMGCL):c.208G>C (p.Val70Leu)
|
rs121964996
|
0.00002
|
NM_000191.3(HMGCL):c.374T>G (p.Val125Gly)
|
rs905961108
|
0.00002
|
NM_000191.3(HMGCL):c.404C>T (p.Thr135Ile)
|
rs370010993
|
0.00002
|
NM_000191.3(HMGCL):c.409A>G (p.Lys137Glu)
|
rs377359510
|
0.00002
|
NM_000191.3(HMGCL):c.493C>T (p.Arg165Trp)
|
rs764039230
|
0.00002
|
NM_000191.3(HMGCL):c.583A>G (p.Met195Val)
|
rs764360500
|
0.00002
|
NM_000191.3(HMGCL):c.733A>T (p.Thr245Ser)
|
rs764926275
|
0.00002
|
NM_000191.3(HMGCL):c.734C>T (p.Thr245Ile)
|
rs761468576
|
0.00002
|
NM_000191.3(HMGCL):c.828G>A (p.Leu276=)
|
rs771024022
|
0.00002
|
NM_000240.4(MAOA):c.402G>A (p.Met134Ile)
|
rs771740634
|
0.00002
|
NM_000240.4(MAOA):c.482T>C (p.Ile161Thr)
|
rs574432879
|
0.00002
|
NM_000240.4(MAOA):c.703G>A (p.Gly235Arg)
|
rs368201051
|
0.00002
|
NM_000240.4(MAOA):c.739G>A (p.Val247Ile)
|
rs777420059
|
0.00002
|
NM_000240.4(MAOA):c.890G>A (p.Arg297Gln)
|
rs780647851
|
0.00002
|
NM_000254.3(MTR):c.1067T>C (p.Leu356Ser)
|
rs1286773616
|
0.00002
|
NM_000254.3(MTR):c.1129C>T (p.Arg377Cys)
|
rs138876566
|
0.00002
|
NM_000254.3(MTR):c.1559A>G (p.Tyr520Cys)
|
rs1242741686
|
0.00002
|
NM_000254.3(MTR):c.1752C>G (p.Phe584Leu)
|
rs1479249107
|
0.00002
|
NM_000254.3(MTR):c.179C>G (p.Ala60Gly)
|
rs775827591
|
0.00002
|
NM_000254.3(MTR):c.2813G>T (p.Ser938Ile)
|
rs774910076
|
0.00002
|
NM_000254.3(MTR):c.2852-3T>C
|
rs986257997
|
0.00002
|
NM_000254.3(MTR):c.388G>A (p.Glu130Lys)
|
rs755894287
|
0.00002
|
NM_000254.3(MTR):c.821T>C (p.Ile274Thr)
|
rs368380397
|
0.00002
|
NM_000255.4(MMUT):c.1355T>A (p.Met452Lys)
|
rs760718889
|
0.00002
|
NM_000255.4(MMUT):c.161A>G (p.Lys54Arg)
|
rs559152765
|
0.00002
|
NM_000255.4(MMUT):c.227G>A (p.Arg76Lys)
|
rs1252414363
|
0.00002
|
NM_000255.4(MMUT):c.431G>A (p.Arg144His)
|
rs776621768
|
0.00002
|
NM_000274.4(OAT):c.1068G>T (p.Leu356Phe)
|
rs768685095
|
0.00002
|
NM_000274.4(OAT):c.1245G>A (p.Ala415=)
|
rs751449034
|
0.00002
|
NM_000274.4(OAT):c.1255G>C (p.Val419Leu)
|
rs760922693
|
0.00002
|
NM_000274.4(OAT):c.202A>G (p.Ile68Val)
|
rs766674632
|
0.00002
|
NM_000274.4(OAT):c.46C>T (p.Arg16Cys)
|
rs778757920
|
0.00002
|
NM_000274.4(OAT):c.477C>T (p.Thr159=)
|
rs575839041
|
0.00002
|
NM_000274.4(OAT):c.785C>A (p.Ala262Asp)
|
rs772762366
|
0.00002
|
NM_000274.4(OAT):c.860T>C (p.Ile287Thr)
|
rs550949287
|
0.00002
|
NM_000274.4(OAT):c.899C>G (p.Pro300Arg)
|
rs759979499
|
0.00002
|
NM_000276.4(OCRL):c.2066G>A (p.Arg689His)
|
rs748186190
|
0.00002
|
NM_000276.4(OCRL):c.769G>A (p.Gly257Arg)
|
rs1388273402
|
0.00002
|
NM_000277.3(PAH):c.1065+39G>T
|
rs62510582
|
0.00002
|
NM_000277.3(PAH):c.1136T>C (p.Val379Ala)
|
rs746203167
|
0.00002
|
NM_000277.3(PAH):c.1218A>G (p.Ile406Met)
|
rs773526027
|
0.00002
|
NM_000277.3(PAH):c.442-14C>T
|
rs775806999
|
0.00002
|
NM_000277.3(PAH):c.463C>T (p.Arg155Cys)
|
rs539743701
|
0.00002
|
NM_000277.3(PAH):c.74T>C (p.Ile25Thr)
|
rs1355039694
|
0.00002
|
NM_000277.3(PAH):c.870T>C (p.His290=)
|
rs751203209
|
0.00002
|
NM_000282.4(PCCA):c.1275T>G (p.His425Gln)
|
rs548833871
|
0.00002
|
NM_000282.4(PCCA):c.1430G>A (p.Gly477Asp)
|
rs776355907
|
0.00002
|
NM_000282.4(PCCA):c.146G>A (p.Arg49His)
|
rs570674073
|
0.00002
|
NM_000282.4(PCCA):c.2150C>T (p.Thr717Ile)
|
rs548026367
|
0.00002
|
NM_000282.4(PCCA):c.50G>A (p.Arg17His)
|
rs768914819
|
0.00002
|
NM_000282.4(PCCA):c.526G>A (p.Asp176Asn)
|
rs1047690554
|
0.00002
|
NM_000282.4(PCCA):c.590G>C (p.Gly197Ala)
|
rs766245108
|
0.00002
|
NM_000282.4(PCCA):c.61C>T (p.Pro21Ser)
|
rs369743452
|
0.00002
|
NM_000282.4(PCCA):c.638-5G>A
|
rs764316702
|
0.00002
|
NM_000282.4(PCCA):c.717-4A>G
|
rs1046922650
|
0.00002
|
NM_000282.4(PCCA):c.809T>C (p.Ile270Thr)
|
rs773749632
|
0.00002
|
NM_000282.4(PCCA):c.946A>T (p.Met316Leu)
|
rs200311920
|
0.00002
|
NM_000282.4(PCCA):c.955C>G (p.Gln319Glu)
|
rs750840362
|
0.00002
|
NM_000283.4(PDE6B):c.1297G>A (p.Asp433Asn)
|
rs539768252
|
0.00002
|
NM_000283.4(PDE6B):c.1580T>C (p.Leu527Pro)
|
rs760766981
|
0.00002
|
NM_000283.4(PDE6B):c.1703C>T (p.Thr568Met)
|
rs369980987
|
0.00002
|
NM_000283.4(PDE6B):c.1779C>T (p.Ala593=)
|
rs769147926
|
0.00002
|
NM_000283.4(PDE6B):c.2332G>A (p.Val778Met)
|
rs775321796
|
0.00002
|
NM_000283.4(PDE6B):c.2352+13C>T
|
rs374527841
|
0.00002
|
NM_000283.4(PDE6B):c.258C>T (p.Leu86=)
|
rs886059520
|
0.00002
|
NM_000283.4(PDE6B):c.297G>A (p.Gln99=)
|
rs768652560
|
0.00002
|
NM_000283.4(PDE6B):c.313G>A (p.Glu105Lys)
|
rs398123299
|
0.00002
|
NM_000283.4(PDE6B):c.316C>T (p.Leu106=)
|
rs752429712
|
0.00002
|
NM_000283.4(PDE6B):c.469-5G>A
|
rs530695084
|
0.00002
|
NM_000317.3(PTS):c.186+9A>G
|
rs202139885
|
0.00002
|
NM_000317.3(PTS):c.400G>A (p.Glu134Lys)
|
rs779681799
|
0.00002
|
NM_000320.3(QDPR):c.152G>A (p.Ser51Asn)
|
rs187958701
|
0.00002
|
NM_000322.5(PRPH2):c.454A>G (p.Met152Val)
|
rs146703538
|
0.00002
|
NM_000322.5(PRPH2):c.801C>T (p.Val267=)
|
rs189358082
|
0.00002
|
NM_000322.5(PRPH2):c.937C>T (p.Pro313Ser)
|
rs746742888
|
0.00002
|
NM_000322.5(PRPH2):c.955T>C (p.Phe319Leu)
|
rs139329966
|
0.00002
|
NM_000326.5(RLBP1):c.-169T>A
|
rs903050784
|
0.00002
|
NM_000326.5(RLBP1):c.-234C>T
|
rs779779512
|
0.00002
|
NM_000326.5(RLBP1):c.-72C>T
|
rs886051501
|
0.00002
|
NM_000326.5(RLBP1):c.525+14C>T
|
rs1173705310
|
0.00002
|
NM_000327.4(ROM1):c.*14G>C
|
rs202210450
|
0.00002
|
NM_000329.3(RPE65):c.*560C>T
|
rs1045301005
|
0.00002
|
NM_000329.3(RPE65):c.1243+10T>C
|
rs548537552
|
0.00002
|
NM_000329.3(RPE65):c.1339-4A>G
|
rs746665921
|
0.00002
|
NM_000329.3(RPE65):c.1355T>G (p.Val452Gly)
|
rs62637004
|
0.00002
|
NM_000329.3(RPE65):c.1544G>A (p.Arg515Gln)
|
rs559975684
|
0.00002
|
NM_000329.3(RPE65):c.807T>C (p.Ser269=)
|
rs774896870
|
0.00002
|
NM_000341.4(SLC3A1):c.1157A>G (p.Tyr386Cys)
|
rs764849767
|
0.00002
|
NM_000341.4(SLC3A1):c.1367G>A (p.Arg456His)
|
rs373852467
|
0.00002
|
NM_000341.4(SLC3A1):c.298C>T (p.Leu100Phe)
|
rs549888282
|
0.00002
|
NM_000350.3(ABCA4):c.303-3C>T
|
rs777945195
|
0.00002
|
NM_000353.3(TAT):c.-12-1G>A
|
rs777389158
|
0.00002
|
NM_000353.3(TAT):c.224C>T (p.Ser75Phe)
|
rs773076331
|
0.00002
|
NM_000353.3(TAT):c.269A>G (p.Asp90Gly)
|
rs886052275
|
0.00002
|
NM_000353.3(TAT):c.340G>A (p.Gly114Ser)
|
rs759311161
|
0.00002
|
NM_000353.3(TAT):c.401A>G (p.Glu134Gly)
|
rs1194073307
|
0.00002
|
NM_000353.3(TAT):c.683G>C (p.Arg228Pro)
|
rs554840029
|
0.00002
|
NM_000360.4(TH):c.1084G>A (p.Glu362Lys)
|
rs776917257
|
0.00002
|
NM_000360.4(TH):c.1229G>A (p.Arg410Gln)
|
rs367874223
|
0.00002
|
NM_000360.4(TH):c.1348C>T (p.Arg450Cys)
|
rs375084700
|
0.00002
|
NM_000360.4(TH):c.1422C>T (p.Ala474=)
|
rs375735482
|
0.00002
|
NM_000360.4(TH):c.216C>T (p.Ala72=)
|
rs773288225
|
0.00002
|
NM_000360.4(TH):c.220G>C (p.Glu74Gln)
|
rs748493792
|
0.00002
|
NM_000360.4(TH):c.360G>A (p.Arg120=)
|
rs761868828
|
0.00002
|
NM_000360.4(TH):c.386A>C (p.Glu129Ala)
|
rs745829277
|
0.00002
|
NM_000360.4(TH):c.787G>C (p.Gly263Arg)
|
rs755536257
|
0.00002
|
NM_000360.4(TH):c.793C>G (p.Arg265Gly)
|
rs1203763637
|
0.00002
|
NM_000360.4(TH):c.98G>A (p.Arg33Gln)
|
rs996766545
|
0.00002
|
NM_000372.5(TYR):c.389A>T (p.Glu130Val)
|
rs966882228
|
0.00002
|
NM_000387.6(SLC25A20):c.262G>A (p.Val88Met)
|
rs145573028
|
0.00002
|
NM_000387.6(SLC25A20):c.596C>T (p.Pro199Leu)
|
rs775269347
|
0.00002
|
NM_000387.6(SLC25A20):c.719-10T>C
|
rs769684089
|
0.00002
|
NM_000387.6(SLC25A20):c.894C>A (p.Thr298=)
|
rs766966542
|
0.00002
|
NM_000440.3(PDE6A):c.2369G>A (p.Arg790His)
|
rs375516599
|
0.00002
|
NM_000440.3(PDE6A):c.2495C>T (p.Ser832Leu)
|
rs750503504
|
0.00002
|
NM_000440.3(PDE6A):c.2548_2552del (p.Gly850fs)
|
rs1240421230
|
0.00002
|
NM_000440.3(PDE6A):c.481C>G (p.His161Asp)
|
rs758150381
|
0.00002
|
NM_000481.4(AMT):c.100C>T (p.Arg34Cys)
|
rs143389339
|
0.00002
|
NM_000481.4(AMT):c.1021G>A (p.Gly341Ser)
|
rs769609020
|
0.00002
|
NM_000481.4(AMT):c.1141C>T (p.Arg381Trp)
|
rs775324601
|
0.00002
|
NM_000481.4(AMT):c.431C>T (p.Ser144Phe)
|
rs147482804
|
0.00002
|
NM_000481.4(AMT):c.434A>G (p.Asn145Ser)
|
rs386833682
|
0.00002
|
NM_000481.4(AMT):c.503G>C (p.Arg168Thr)
|
rs200058579
|
0.00002
|
NM_000481.4(AMT):c.529A>G (p.Asn177Asp)
|
rs771657567
|
0.00002
|
NM_000481.4(AMT):c.584T>C (p.Val195Ala)
|
rs752740839
|
0.00002
|
NM_000481.4(AMT):c.658G>A (p.Val220Met)
|
rs199638653
|
0.00002
|
NM_000531.6(OTC):c.216+9C>T
|
rs774764719
|
0.00002
|
NM_000531.6(OTC):c.272C>T (p.Thr91Ile)
|
rs372906667
|
0.00002
|
NM_000531.6(OTC):c.761C>T (p.Ala254Val)
|
rs781179862
|
0.00002
|
NM_000531.6(OTC):c.76C>T (p.Arg26Trp)
|
rs1057515879
|
0.00002
|
NM_000531.6(OTC):c.808C>G (p.Gln270Glu)
|
rs72558451
|
0.00002
|
NM_000531.6(OTC):c.89C>A (p.Pro30Gln)
|
rs753712951
|
0.00002
|
NM_000532.5(PCCB):c.-35G>A
|
rs886058016
|
0.00002
|
NM_000532.5(PCCB):c.1132G>A (p.Val378Ile)
|
rs761529521
|
0.00002
|
NM_000532.5(PCCB):c.131G>A (p.Arg44Gln)
|
rs375014273
|
0.00002
|
NM_000532.5(PCCB):c.1372G>A (p.Ala458Thr)
|
rs542389615
|
0.00002
|
NM_000532.5(PCCB):c.449C>T (p.Thr150Met)
|
rs372770908
|
0.00002
|
NM_000532.5(PCCB):c.45C>T (p.Ser15=)
|
rs754664563
|
0.00002
|
NM_000532.5(PCCB):c.543G>C (p.Leu181=)
|
rs777868289
|
0.00002
|
NM_000532.5(PCCB):c.595C>T (p.Pro199Ser)
|
rs371155999
|
0.00002
|
NM_000532.5(PCCB):c.836C>T (p.Pro279Leu)
|
rs780837200
|
0.00002
|
NM_000532.5(PCCB):c.889C>T (p.Arg297Cys)
|
rs549397464
|
0.00002
|
NM_000539.3(RHO):c.205C>T (p.Arg69Cys)
|
rs761101263
|
0.00002
|
NM_000541.5(SAG):c.*20C>T
|
rs756466617
|
0.00002
|
NM_000541.5(SAG):c.777C>T (p.Tyr259=)
|
rs766104513
|
0.00002
|
NM_000541.5(SAG):c.820C>T (p.Pro274Ser)
|
rs369789189
|
0.00002
|
NM_000541.5(SAG):c.875G>A (p.Arg292Gln)
|
rs554322769
|
0.00002
|
NM_000554.6(CRX):c.*2485C>T
|
rs564202140
|
0.00002
|
NM_000554.6(CRX):c.*2611G>A
|
rs1329072003
|
0.00002
|
NM_000554.6(CRX):c.485T>C (p.Ile162Thr)
|
rs745628043
|
0.00002
|
NM_000554.6(CRX):c.487T>C (p.Trp163Arg)
|
rs779912365
|
0.00002
|
NM_000554.6(CRX):c.513G>C (p.Leu171Phe)
|
rs773154643
|
0.00002
|
NM_000554.6(CRX):c.521C>T (p.Ala174Val)
|
rs771028537
|
0.00002
|
NM_000666.3(ACY1):c.1132C>T (p.Arg378Trp)
|
rs148346337
|
0.00002
|
NM_000687.4(AHCY):c.-40C>T
|
rs759516966
|
0.00002
|
NM_000687.4(AHCY):c.985C>T (p.Arg329Trp)
|
rs530155117
|
0.00002
|
NM_000709.4(BCKDHA):c.1087C>T (p.Arg363Trp)
|
rs942815730
|
0.00002
|
NM_000709.4(BCKDHA):c.1100A>C (p.Tyr367Ser)
|
rs777794357
|
0.00002
|
NM_000709.4(BCKDHA):c.1302C>T (p.Tyr434=)
|
rs398123491
|
0.00002
|
NM_000709.4(BCKDHA):c.261G>T (p.Gln87His)
|
rs751862507
|
0.00002
|
NM_000709.4(BCKDHA):c.508C>T (p.Pro170Ser)
|
rs34956071
|
0.00002
|
NM_000709.4(BCKDHA):c.798C>T (p.Asn266=)
|
rs772457864
|
0.00002
|
NM_000709.4(BCKDHA):c.889C>T (p.Arg297Cys)
|
rs145901144
|
0.00002
|
NM_000709.4(BCKDHA):c.947G>A (p.Arg316Gln)
|
rs972403437
|
0.00002
|
NM_000836.4(GRIN2D):c.3076G>A (p.Gly1026Ser)
|
rs900615101
|
0.00002
|
NM_000883.4(IMPDH1):c.1589G>A (p.Gly530Asp)
|
rs756992593
|
0.00002
|
NM_000883.4(IMPDH1):c.1800A>G (p.Ter600Trp)
|
rs747314543
|
0.00002
|
NM_001002755.2(NFU1):c.-175G>T
|
rs764708513
|
0.00002
|
NM_001002755.4(NFU1):c.636C>G (p.Ser212Arg)
|
rs1272262379
|
0.00002
|
NM_001002755.4(NFU1):c.720+4T>A
|
rs1006415808
|
0.00002
|
NM_001003841.3(SLC6A19):c.1097G>A (p.Arg366Gln)
|
rs750499474
|
0.00002
|
NM_001003841.3(SLC6A19):c.1244T>C (p.Leu415Pro)
|
rs370393309
|
0.00002
|
NM_001003841.3(SLC6A19):c.125T>C (p.Met42Thr)
|
rs144373119
|
0.00002
|
NM_001003841.3(SLC6A19):c.98C>T (p.Pro33Leu)
|
rs766566496
|
0.00002
|
NM_001010867.4(IBA57):c.766A>T (p.Thr256Ser)
|
rs539057206
|
0.00002
|
NM_001010867.4(IBA57):c.866C>T (p.Pro289Leu)
|
rs770987687
|
0.00002
|
NM_001012720.2(RGR):c.196A>C (p.Ser66Arg)
|
rs104894187
|
0.00002
|
NM_001012720.2(RGR):c.866G>A (p.Arg289Gln)
|
rs768395760
|
0.00002
|
NM_001024845.3(SLC6A9):c.1381T>G (p.Phe461Val)
|
rs1156758875
|
0.00002
|
NM_001024845.3(SLC6A9):c.1442G>A (p.Arg481Gln)
|
rs201783916
|
0.00002
|
NM_001024845.3(SLC6A9):c.1511G>A (p.Arg504His)
|
rs150135550
|
0.00002
|
NM_001024845.3(SLC6A9):c.31-6226C>T
|
rs202056254
|
0.00002
|
NM_001024845.3(SLC6A9):c.577G>A (p.Glu193Lys)
|
rs193921002
|
0.00002
|
NM_001024845.3(SLC6A9):c.754G>A (p.Val252Met)
|
rs200759556
|
0.00002
|
NM_001024845.3(SLC6A9):c.962G>A (p.Arg321Gln)
|
rs201870833
|
0.00002
|
NM_001029883.3(PCARE):c.*1259C>T
|
rs558252908
|
0.00002
|
NM_001029883.3(PCARE):c.1892C>T (p.Ala631Val)
|
rs369935946
|
0.00002
|
NM_001029883.3(PCARE):c.2197A>C (p.Lys733Gln)
|
rs746749375
|
0.00002
|
NM_001029883.3(PCARE):c.2257G>A (p.Ala753Thr)
|
rs371979312
|
0.00002
|
NM_001029883.3(PCARE):c.2991G>A (p.Thr997=)
|
rs528901190
|
0.00002
|
NM_001029883.3(PCARE):c.3404C>T (p.Pro1135Leu)
|
rs756152942
|
0.00002
|
NM_001029883.3(PCARE):c.3669-5G>A
|
rs886055920
|
0.00002
|
NM_001029883.3(PCARE):c.85C>T (p.Arg29Trp)
|
rs201706430
|
0.00002
|
NM_001077620.3(PRCD):c.*1061C>T
|
rs552803584
|
0.00002
|
NM_001077620.3(PRCD):c.*1411G>A
|
rs773610638
|
0.00002
|
NM_001080.3(ALDH5A1):c.*2720C>A
|
rs560949465
|
0.00002
|
NM_001080.3(ALDH5A1):c.1114A>G (p.Asn372Asp)
|
rs200308698
|
0.00002
|
NM_001080.3(ALDH5A1):c.1320C>T (p.Phe440=)
|
rs771829991
|
0.00002
|
NM_001080.3(ALDH5A1):c.1336G>C (p.Val446Leu)
|
rs370942126
|
0.00002
|
NM_001080.3(ALDH5A1):c.164C>T (p.Ser55Phe)
|
rs1472036270
|
0.00002
|
NM_001080.3(ALDH5A1):c.256G>C (p.Ala86Pro)
|
rs1371742454
|
0.00002
|
NM_001080.3(ALDH5A1):c.267G>C (p.Met89Ile)
|
rs964260186
|
0.00002
|
NM_001080.3(ALDH5A1):c.323C>T (p.Ala108Val)
|
rs1440288677
|
0.00002
|
NM_001080.3(ALDH5A1):c.325T>C (p.Phe109Leu)
|
rs1309356527
|
0.00002
|
NM_001080.3(ALDH5A1):c.560G>A (p.Arg187Gln)
|
rs755160772
|
0.00002
|
NM_001080.3(ALDH5A1):c.609G>A (p.Pro203=)
|
rs142373741
|
0.00002
|
NM_001081.4(CUBN):c.*564G>C
|
rs184284227
|
0.00002
|
NM_001081.4(CUBN):c.10853G>A (p.Arg3618Gln)
|
rs780837561
|
0.00002
|
NM_001081.4(CUBN):c.3517A>G (p.Ser1173Gly)
|
rs768104200
|
0.00002
|
NM_001081.4(CUBN):c.4375T>G (p.Ser1459Ala)
|
rs886046875
|
0.00002
|
NM_001081.4(CUBN):c.4598A>G (p.Asn1533Ser)
|
rs1025505410
|
0.00002
|
NM_001081.4(CUBN):c.4811G>T (p.Gly1604Val)
|
rs751110627
|
0.00002
|
NM_001081.4(CUBN):c.483G>A (p.Gln161=)
|
rs371508247
|
0.00002
|
NM_001081.4(CUBN):c.5758G>A (p.Ala1920Thr)
|
rs770772474
|
0.00002
|
NM_001081.4(CUBN):c.5917A>G (p.Ile1973Val)
|
rs556462218
|
0.00002
|
NM_001081.4(CUBN):c.6282A>T (p.Gly2094=)
|
rs576557890
|
0.00002
|
NM_001081.4(CUBN):c.8204A>C (p.Asp2735Ala)
|
rs558369938
|
0.00002
|
NM_001081.4(CUBN):c.8254G>T (p.Gly2752Cys)
|
rs747786939
|
0.00002
|
NM_001081.4(CUBN):c.8382T>C (p.Phe2794=)
|
rs200808196
|
0.00002
|
NM_001081.4(CUBN):c.8831T>C (p.Met2944Thr)
|
rs544783535
|
0.00002
|
NM_001102564.3(IFT43):c.296-5681A>G
|
rs755977535
|
0.00002
|
NM_001102564.3(IFT43):c.398G>A (p.Arg133His)
|
rs755396441
|
0.00002
|
NM_001102564.3(IFT43):c.502C>T (p.Arg168Trp)
|
rs1483926431
|
0.00002
|
NM_001127222.2(CACNA1A):c.1142G>A (p.Arg381Gln)
|
rs772354342
|
0.00002
|
NM_001127222.2(CACNA1A):c.1394C>T (p.Ser465Leu)
|
rs544363291
|
0.00002
|
NM_001127222.2(CACNA1A):c.1438C>T (p.Arg480Cys)
|
rs1189054127
|
0.00002
|
NM_001127222.2(CACNA1A):c.2890C>T (p.Pro964Ser)
|
rs1383144531
|
0.00002
|
NM_001127222.2(CACNA1A):c.29C>T (p.Ala10Val)
|
rs952757731
|
0.00002
|
NM_001127222.2(CACNA1A):c.3142C>T (p.Arg1048Trp)
|
rs753402026
|
0.00002
|
NM_001127222.2(CACNA1A):c.3403G>A (p.Gly1135Ser)
|
rs762006290
|
0.00002
|
NM_001127222.2(CACNA1A):c.3526C>T (p.Pro1176Ser)
|
rs1458640910
|
0.00002
|
NM_001127222.2(CACNA1A):c.4089+3G>A
|
rs781595676
|
0.00002
|
NM_001127222.2(CACNA1A):c.5521G>A (p.Ala1841Thr)
|
rs753229469
|
0.00002
|
NM_001127222.2(CACNA1A):c.5529-1267G>A
|
rs141565870
|
0.00002
|
NM_001127222.2(CACNA1A):c.5758G>A (p.Ala1920Thr)
|
rs766012999
|
0.00002
|
NM_001127222.2(CACNA1A):c.6220G>A (p.Gly2074Ser)
|
rs376910068
|
0.00002
|
NM_001127222.2(CACNA1A):c.6234C>T (p.Ser2078=)
|
rs758320697
|
0.00002
|
NM_001127222.2(CACNA1A):c.632G>A (p.Ser211Asn)
|
rs1085307866
|
0.00002
|
NM_001127222.2(CACNA1A):c.6331A>G (p.Asn2111Asp)
|
rs1162464868
|
0.00002
|
NM_001127222.2(CACNA1A):c.6460C>T (p.Arg2154Trp)
|
rs1374160355
|
0.00002
|
NM_001127222.2(CACNA1A):c.6506G>A (p.Arg2169His)
|
rs1417890059
|
0.00002
|
NM_001127222.2(CACNA1A):c.6550A>G (p.Thr2184Ala)
|
rs1028538547
|
0.00002
|
NM_001127222.2(CACNA1A):c.6610G>A (p.Asp2204Asn)
|
rs747673128
|
0.00002
|
NM_001127222.2(CACNA1A):c.6646C>T (p.His2216Tyr)
|
rs760470308
|
0.00002
|
NM_001127222.2(CACNA1A):c.6653A>C (p.His2218Pro)
|
rs1353109044
|
0.00002
|
NM_001127222.2(CACNA1A):c.6737C>T (p.Ser2246Phe)
|
rs768312851
|
0.00002
|
NM_001142800.2(EYS):c.-448+5G>A
|
rs1175129177
|
0.00002
|
NM_001142800.2(EYS):c.1100G>C (p.Cys367Ser)
|
rs935618633
|
0.00002
|
NM_001142800.2(EYS):c.1490T>C (p.Ile497Thr)
|
rs1417899816
|
0.00002
|
NM_001142800.2(EYS):c.1999C>T (p.Arg667Cys)
|
rs765763663
|
0.00002
|
NM_001142800.2(EYS):c.2528G>A (p.Gly843Glu)
|
rs74419361
|
0.00002
|
NM_001142800.2(EYS):c.2992G>A (p.Gly998Ser)
|
rs1010982936
|
0.00002
|
NM_001142800.2(EYS):c.3105T>G (p.Phe1035Leu)
|
rs969468917
|
0.00002
|
NM_001142800.2(EYS):c.3569-7T>G
|
rs1036723042
|
0.00002
|
NM_001142800.2(EYS):c.4003G>T (p.Ala1335Ser)
|
rs761342525
|
0.00002
|
NM_001142800.2(EYS):c.4146C>A (p.Phe1382Leu)
|
rs748931820
|
0.00002
|
NM_001142800.2(EYS):c.4160G>A (p.Arg1387Lys)
|
rs1490023696
|
0.00002
|
NM_001142800.2(EYS):c.5448T>A (p.Asp1816Glu)
|
rs529055258
|
0.00002
|
NM_001142800.2(EYS):c.5484A>C (p.Lys1828Asn)
|
rs996239133
|
0.00002
|
NM_001142800.2(EYS):c.5779T>C (p.Ser1927Pro)
|
rs921629471
|
0.00002
|
NM_001142800.2(EYS):c.5903G>A (p.Gly1968Glu)
|
rs754069174
|
0.00002
|
NM_001142800.2(EYS):c.600C>T (p.Cys200=)
|
rs145581501
|
0.00002
|
NM_001142800.2(EYS):c.6575A>G (p.Asn2192Ser)
|
rs750904267
|
0.00002
|
NM_001142800.2(EYS):c.7141G>A (p.Gly2381Arg)
|
rs577000027
|
0.00002
|
NM_001142800.2(EYS):c.7459G>A (p.Val2487Met)
|
rs1204307982
|
0.00002
|
NM_001142800.2(EYS):c.7699G>A (p.Ala2567Thr)
|
rs1208734040
|
0.00002
|
NM_001142800.2(EYS):c.7898+12G>A
|
rs557020239
|
0.00002
|
NM_001142800.2(EYS):c.8182G>A (p.Ala2728Thr)
|
rs995862502
|
0.00002
|
NM_001142800.2(EYS):c.8633C>G (p.Ala2878Gly)
|
rs1409480033
|
0.00002
|
NM_001142800.2(EYS):c.8791C>G (p.Gln2931Glu)
|
rs774179534
|
0.00002
|
NM_001142800.2(EYS):c.8861T>A (p.Phe2954Tyr)
|
rs755879622
|
0.00002
|
NM_001142800.2(EYS):c.9344T>A (p.Val3115Asp)
|
rs748838955
|
0.00002
|
NM_001201543.2(FAM161A):c.*1252A>G
|
rs1015093278
|
0.00002
|
NM_001201543.2(FAM161A):c.*1507G>C
|
rs886056213
|
0.00002
|
NM_001201543.2(FAM161A):c.1004G>A (p.Arg335Gln)
|
rs755314585
|
0.00002
|
NM_001201543.2(FAM161A):c.1213G>A (p.Gly405Arg)
|
rs544107644
|
0.00002
|
NM_001201543.2(FAM161A):c.122C>T (p.Ala41Val)
|
rs768878474
|
0.00002
|
NM_001201543.2(FAM161A):c.1583+11A>G
|
rs368458156
|
0.00002
|
NM_001201543.2(FAM161A):c.176G>A (p.Gly59Glu)
|
rs758153602
|
0.00002
|
NM_001201543.2(FAM161A):c.1946_1947del (p.Gly649fs)
|
rs773858764
|
0.00002
|
NM_001201543.2(FAM161A):c.716C>T (p.Pro239Leu)
|
rs1438804249
|
0.00002
|
NM_001201543.2(FAM161A):c.867A>G (p.Ala289=)
|
rs558087162
|
0.00002
|
NM_001201543.2(FAM161A):c.972A>T (p.Pro324=)
|
rs769306395
|
0.00002
|
NM_001242957.3(MAK):c.1144-8C>T
|
rs776541315
|
0.00002
|
NM_001243279.3(ACSF3):c.123C>G (p.Asp41Glu)
|
rs901883302
|
0.00002
|
NM_001243279.3(ACSF3):c.1543C>T (p.Arg515Trp)
|
rs563580010
|
0.00002
|
NM_001243279.3(ACSF3):c.1671G>A (p.Pro557=)
|
rs747338200
|
0.00002
|
NM_001243279.3(ACSF3):c.313G>A (p.Asp105Asn)
|
rs145969050
|
0.00002
|
NM_001243279.3(ACSF3):c.31C>T (p.Arg11Cys)
|
rs901081235
|
0.00002
|
NM_001243279.3(ACSF3):c.480C>T (p.Val160=)
|
rs375671065
|
0.00002
|
NM_001243279.3(ACSF3):c.522C>G (p.Ile174Met)
|
rs1456986518
|
0.00002
|
NM_001258392.3(CLPB):c.1018G>A (p.Asp340Asn)
|
rs893057489
|
0.00002
|
NM_001258392.3(CLPB):c.1292C>T (p.Pro431Leu)
|
rs746582120
|
0.00002
|
NM_001258392.3(CLPB):c.1462C>T (p.Arg488Cys)
|
rs369380599
|
0.00002
|
NM_001258392.3(CLPB):c.1463G>A (p.Arg488His)
|
rs760399999
|
0.00002
|
NM_001258392.3(CLPB):c.1546C>T (p.Arg516Cys)
|
rs748289105
|
0.00002
|
NM_001258392.3(CLPB):c.1718G>A (p.Arg573His)
|
rs765245566
|
0.00002
|
NM_001258392.3(CLPB):c.214G>A (p.Gly72Arg)
|
rs758376345
|
0.00002
|
NM_001258392.3(CLPB):c.266G>A (p.Gly89Glu)
|
rs374729211
|
0.00002
|
NM_001258392.3(CLPB):c.299G>C (p.Gly100Ala)
|
rs777039470
|
0.00002
|
NM_001258392.3(CLPB):c.347G>C (p.Cys116Ser)
|
rs549191970
|
0.00002
|
NM_001258392.3(CLPB):c.692G>A (p.Arg231His)
|
rs772243585
|
0.00002
|
NM_001258392.3(CLPB):c.694G>A (p.Ala232Thr)
|
rs779228307
|
0.00002
|
NM_001258392.3(CLPB):c.730G>C (p.Val244Leu)
|
rs139268876
|
0.00002
|
NM_001258392.3(CLPB):c.73A>G (p.Thr25Ala)
|
rs760759093
|
0.00002
|
NM_001258392.3(CLPB):c.819G>C (p.Leu273Phe)
|
rs368150943
|
0.00002
|
NM_001258392.3(CLPB):c.914G>A (p.Arg305His)
|
rs529206633
|
0.00002
|
NM_001271.4(CHD2):c.1681G>A (p.Val561Ile)
|
rs373363898
|
0.00002
|
NM_001271.4(CHD2):c.1769A>G (p.Asn590Ser)
|
rs373555806
|
0.00002
|
NM_001271.4(CHD2):c.184A>C (p.Ser62Arg)
|
rs199670886
|
0.00002
|
NM_001271.4(CHD2):c.4315A>G (p.Lys1439Glu)
|
rs368570245
|
0.00002
|
NM_001271.4(CHD2):c.4435G>A (p.Val1479Met)
|
rs779953123
|
0.00002
|
NM_001271.4(CHD2):c.4580A>G (p.Lys1527Arg)
|
rs771195215
|
0.00002
|
NM_001271.4(CHD2):c.5017C>T (p.His1673Tyr)
|
rs190569275
|
0.00002
|
NM_001271.4(CHD2):c.5054G>A (p.Arg1685His)
|
rs749360780
|
0.00002
|
NM_001271.4(CHD2):c.5095C>T (p.Pro1699Ser)
|
rs777481677
|
0.00002
|
NM_001271.4(CHD2):c.5128C>T (p.Arg1710Trp)
|
rs1000152328
|
0.00002
|
NM_001271.4(CHD2):c.5232G>A (p.Met1744Ile)
|
rs761319790
|
0.00002
|
NM_001271.4(CHD2):c.5245C>T (p.Pro1749Ser)
|
rs772907727
|
0.00002
|
NM_001271.4(CHD2):c.5341C>G (p.His1781Asp)
|
rs771637309
|
0.00002
|
NM_001271.4(CHD2):c.568C>T (p.Arg190Cys)
|
rs540770153
|
0.00002
|
NM_001271.4(CHD2):c.569G>A (p.Arg190His)
|
rs776934265
|
0.00002
|
NM_001271.4(CHD2):c.595C>T (p.Arg199Cys)
|
rs764705223
|
0.00002
|
NM_001271.4(CHD2):c.683A>G (p.Lys228Arg)
|
rs764468460
|
0.00002
|
NM_001278293.3(ARL6):c.17G>C (p.Arg6Thr)
|
rs751957701
|
0.00002
|
NM_001278293.3(ARL6):c.266C>G (p.Ala89Gly)
|
rs587777805
|
0.00002
|
NM_001278293.3(ARL6):c.458A>G (p.Lys153Arg)
|
rs771963434
|
0.00002
|
NM_001297.5(CNGB1):c.-25G>A
|
rs776035875
|
0.00002
|
NM_001297.5(CNGB1):c.2210G>A (p.Arg737His)
|
rs764107600
|
0.00002
|
NM_001297.5(CNGB1):c.3G>A (p.Met1Ile)
|
rs1230824209
|
0.00002
|
NM_001297.5(CNGB1):c.545A>T (p.Asp182Val)
|
rs748928062
|
0.00002
|
NM_001352514.2(HLCS):c.*1071G>A
|
rs987334114
|
0.00002
|
NM_001352514.2(HLCS):c.*14C>T
|
rs778616712
|
0.00002
|
NM_001352514.2(HLCS):c.1808A>G (p.Tyr603Cys)
|
rs781603756
|
0.00002
|
NM_001352514.2(HLCS):c.1810C>T (p.Arg604Cys)
|
rs547391411
|
0.00002
|
NM_001352514.2(HLCS):c.2036C>A (p.Ser679Tyr)
|
rs777373322
|
0.00002
|
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn)
|
rs119103228
|
0.00002
|
NM_001352514.2(HLCS):c.2340C>T (p.Ala780=)
|
rs760265551
|
0.00002
|
NM_001352514.2(HLCS):c.2476G>A (p.Ala826Thr)
|
rs376898721
|
0.00002
|
NM_001352514.2(HLCS):c.2545G>A (p.Gly849Ser)
|
rs773752745
|
0.00002
|
NM_001352514.2(HLCS):c.2548G>A (p.Glu850Lys)
|
rs145337682
|
0.00002
|
NM_001352514.2(HLCS):c.941A>G (p.Tyr314Cys)
|
rs778638155
|
0.00002
|
NM_001354768.3(NRL):c.645C>T (p.Tyr215=)
|
rs936140196
|
0.00002
|
NM_001370658.1(BTD):c.-87G>T
|
rs755119589
|
0.00002
|
NM_001370658.1(BTD):c.1042G>A (p.Asp348Asn)
|
rs769903360
|
0.00002
|
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val)
|
rs104893686
|
0.00002
|
NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr)
|
rs104893692
|
0.00002
|
NM_001370658.1(BTD):c.1425C>A (p.Ile475=)
|
rs780182371
|
0.00002
|
NM_001370658.1(BTD):c.616A>G (p.Lys206Glu)
|
rs1003975438
|
0.00002
|
NM_001370658.1(BTD):c.635T>G (p.Phe212Cys)
|
rs768097543
|
0.00002
|
NM_001370658.1(BTD):c.751G>T (p.Ala251Ser)
|
rs144575084
|
0.00002
|
NM_001378615.1(CC2D2A):c.1994A>G (p.Gln665Arg)
|
rs1718235188
|
0.00002
|
NM_001379270.1(CNGA1):c.1096G>A (p.Val366Met)
|
rs758625358
|
0.00002
|
NM_001379270.1(CNGA1):c.1121T>C (p.Val374Ala)
|
rs765792753
|
0.00002
|
NM_001379270.1(CNGA1):c.1915C>T (p.Arg639Ter)
|
rs750954043
|
0.00002
|
NM_001379270.1(CNGA1):c.287+14C>A
|
rs777903781
|
0.00002
|
NM_001394090.1(CFAP92):c.3280+2308G>A
|
rs758867335
|
0.00002
|
NM_001482.3(GATM):c.1042G>A (p.Asp348Asn)
|
rs755493537
|
0.00002
|
NM_001482.3(GATM):c.140G>A (p.Arg47Gln)
|
rs777639154
|
0.00002
|
NM_001482.3(GATM):c.494G>A (p.Ser165Asn)
|
rs780398292
|
0.00002
|
NM_001482.3(GATM):c.644A>G (p.Lys215Arg)
|
rs759012962
|
0.00002
|
NM_001482.3(GATM):c.655G>A (p.Ala219Thr)
|
rs369580400
|
0.00002
|
NM_001482.3(GATM):c.813+6C>T
|
rs771050735
|
0.00002
|
NM_001482.3(GATM):c.844C>T (p.Arg282Cys)
|
rs766583032
|
0.00002
|
NM_001482.3(GATM):c.845G>A (p.Arg282His)
|
rs371447931
|
0.00002
|
NM_001482.3(GATM):c.859C>T (p.Pro287Ser)
|
rs773358289
|
0.00002
|
NM_001609.4(ACADSB):c.*1981G>A
|
rs1267140155
|
0.00002
|
NM_001609.4(ACADSB):c.*263G>A
|
rs1009551388
|
0.00002
|
NM_001609.4(ACADSB):c.*3941C>A
|
rs886046804
|
0.00002
|
NM_001609.4(ACADSB):c.*57G>A
|
rs886046783
|
0.00002
|
NM_001609.4(ACADSB):c.1100C>T (p.Ala367Val)
|
rs745900584
|
0.00002
|
NM_001609.4(ACADSB):c.1184C>T (p.Thr395Ile)
|
rs752034695
|
0.00002
|
NM_001609.4(ACADSB):c.260C>T (p.Ser87Leu)
|
rs745481903
|
0.00002
|
NM_001698.3(AUH):c.655+7G>A
|
rs748099966
|
0.00002
|
NM_001698.3(AUH):c.676C>T (p.Arg226Cys)
|
rs148157596
|
0.00002
|
NM_001698.3(AUH):c.719C>T (p.Ala240Val)
|
rs769894315
|
0.00002
|
NM_001698.3(AUH):c.722G>A (p.Arg241Gln)
|
rs1269002301
|
0.00002
|
NM_001698.3(AUH):c.850G>A (p.Val284Ile)
|
rs748245565
|
0.00002
|
NM_001739.2(CA5A):c.445G>A (p.Ala149Thr)
|
rs553819990
|
0.00002
|
NM_001875.5(CPS1):c.1201G>C (p.Gly401Arg)
|
rs760895692
|
0.00002
|
NM_001875.5(CPS1):c.1255C>T (p.Arg419Trp)
|
rs139818667
|
0.00002
|
NM_001875.5(CPS1):c.1365A>C (p.Glu455Asp)
|
rs1248150090
|
0.00002
|
NM_001875.5(CPS1):c.2026G>A (p.Glu676Lys)
|
rs753441052
|
0.00002
|
NM_001875.5(CPS1):c.2044C>T (p.Arg682Cys)
|
rs754653479
|
0.00002
|
NM_001875.5(CPS1):c.2116A>G (p.Thr706Ala)
|
rs755035266
|
0.00002
|
NM_001875.5(CPS1):c.2257G>A (p.Val753Ile)
|
rs1272423772
|
0.00002
|
NM_001875.5(CPS1):c.2459T>C (p.Ile820Thr)
|
rs763191148
|
0.00002
|
NM_001875.5(CPS1):c.2611A>T (p.Thr871Ser)
|
rs750006303
|
0.00002
|
NM_001875.5(CPS1):c.302T>C (p.Ile101Thr)
|
rs186877621
|
0.00002
|
NM_001875.5(CPS1):c.3395A>G (p.Tyr1132Cys)
|
rs764150301
|
0.00002
|
NM_001875.5(CPS1):c.4019A>G (p.Glu1340Gly)
|
rs748968097
|
0.00002
|
NM_001875.5(CPS1):c.436A>G (p.Thr146Ala)
|
rs747085519
|
0.00002
|
NM_001876.4(CPT1A):c.1352+6G>A
|
rs541440067
|
0.00002
|
NM_001876.4(CPT1A):c.1813G>A (p.Val605Met)
|
rs747835344
|
0.00002
|
NM_001876.4(CPT1A):c.1840G>A (p.Asp614Asn)
|
rs200893871
|
0.00002
|
NM_001876.4(CPT1A):c.388C>T (p.Leu130Phe)
|
rs1212436657
|
0.00002
|
NM_001876.4(CPT1A):c.432T>C (p.Ser144=)
|
rs751979703
|
0.00002
|
NM_001876.4(CPT1A):c.524C>T (p.Pro175Leu)
|
rs561244283
|
0.00002
|
NM_001876.4(CPT1A):c.52G>A (p.Gly18Arg)
|
rs767491846
|
0.00002
|
NM_001876.4(CPT1A):c.634G>A (p.Gly212Ser)
|
rs141191480
|
0.00002
|
NM_001876.4(CPT1A):c.893G>T (p.Gly298Val)
|
rs1310052561
|
0.00002
|
NM_001902.6(CTH):c.995T>C (p.Leu332Pro)
|
rs767542599
|
0.00002
|
NM_001918.5(DBT):c.*3187C>G
|
rs886044952
|
0.00002
|
NM_001918.5(DBT):c.*642T>C
|
rs1055527758
|
0.00002
|
NM_001918.5(DBT):c.*8073C>T
|
rs886044941
|
0.00002
|
NM_001918.5(DBT):c.34A>G (p.Arg12Gly)
|
rs1215222732
|
0.00002
|
NM_001918.5(DBT):c.401C>T (p.Pro134Leu)
|
rs1131691488
|
0.00002
|
NM_001985.3(ETFB):c.134C>T (p.Ala45Val)
|
rs770414295
|
0.00002
|
NM_001985.3(ETFB):c.316C>T (p.Arg106Trp)
|
rs748730384
|
0.00002
|
NM_001985.3(ETFB):c.382G>A (p.Asp128Asn)
|
rs104894678
|
0.00002
|
NM_002098.6(GUCA1B):c.*107C>T
|
rs991862449
|
0.00002
|
NM_002098.6(GUCA1B):c.*559T>C
|
rs1387756267
|
0.00002
|
NM_002108.4(HAL):c.*1300T>G
|
rs1316771084
|
0.00002
|
NM_002108.4(HAL):c.-108C>T
|
rs886049903
|
0.00002
|
NM_002108.4(HAL):c.77G>A (p.Trp26Ter)
|
rs780094875
|
0.00002
|
NM_002150.2(HPD):c.*202T>A
|
rs1352129485
|
0.00002
|
NM_002150.3(HPD):c.157G>A (p.Gly53Ser)
|
rs758064577
|
0.00002
|
NM_002150.3(HPD):c.778G>A (p.Gly260Arg)
|
rs755816788
|
0.00002
|
NM_002150.3(HPD):c.93+9C>T
|
rs542121054
|
0.00002
|
NM_002225.5(IVD):c.*112G>T
|
rs558721558
|
0.00002
|
NM_002225.5(IVD):c.-8T>C
|
rs566691073
|
0.00002
|
NM_002225.5(IVD):c.-9A>T
|
rs373594717
|
0.00002
|
NM_002225.5(IVD):c.1138+13C>T
|
rs770658726
|
0.00002
|
NM_002225.5(IVD):c.268T>A (p.Leu90Met)
|
rs780854004
|
0.00002
|
NM_002225.5(IVD):c.357C>T (p.Ser119=)
|
rs776924775
|
0.00002
|
NM_002225.5(IVD):c.596G>T (p.Gly199Val)
|
rs121434285
|
0.00002
|
NM_002225.5(IVD):c.865G>A (p.Gly289Arg)
|
rs568885234
|
0.00002
|
NM_002454.3(MTRR):c.1216A>G (p.Ser406Gly)
|
rs1239051004
|
0.00002
|
NM_002454.3(MTRR):c.1418T>C (p.Val473Ala)
|
rs777447397
|
0.00002
|
NM_002454.3(MTRR):c.1591C>T (p.His531Tyr)
|
rs767321681
|
0.00002
|
NM_002454.3(MTRR):c.317A>G (p.Asn106Ser)
|
rs763568058
|
0.00002
|
NM_002454.3(MTRR):c.405A>C (p.Leu135Phe)
|
rs754157293
|
0.00002
|
NM_002602.4(PDE6G):c.175G>A (p.Gly59Ser)
|
rs372592115
|
0.00002
|
NM_002860.4(ALDH18A1):c.1198C>T (p.Arg400Cys)
|
rs907590719
|
0.00002
|
NM_002860.4(ALDH18A1):c.1358G>A (p.Arg453His)
|
rs765122458
|
0.00002
|
NM_002860.4(ALDH18A1):c.1366C>T (p.Arg456Cys)
|
rs763868475
|
0.00002
|
NM_002860.4(ALDH18A1):c.1367G>A (p.Arg456His)
|
rs760865106
|
0.00002
|
NM_002860.4(ALDH18A1):c.2098G>A (p.Val700Ile)
|
rs375705932
|
0.00002
|
NM_002860.4(ALDH18A1):c.2109C>T (p.Asp703=)
|
rs779516879
|
0.00002
|
NM_002860.4(ALDH18A1):c.2294G>A (p.Arg765Gln)
|
rs537043237
|
0.00002
|
NM_002860.4(ALDH18A1):c.2308G>A (p.Val770Met)
|
rs369153920
|
0.00002
|
NM_002860.4(ALDH18A1):c.599G>A (p.Arg200His)
|
rs746256246
|
0.00002
|
NM_002860.4(ALDH18A1):c.786G>C (p.Leu262Phe)
|
rs1380580792
|
0.00002
|
NM_002900.3(RBP3):c.1007T>C (p.Val336Ala)
|
rs782570418
|
0.00002
|
NM_002900.3(RBP3):c.1123G>A (p.Gly375Ser)
|
rs527458754
|
0.00002
|
NM_002900.3(RBP3):c.1351_1352insTCGTC (p.Ser451fs)
|
rs781889777
|
0.00002
|
NM_002900.3(RBP3):c.1756G>A (p.Glu586Lys)
|
rs782791110
|
0.00002
|
NM_002900.3(RBP3):c.2481C>T (p.Pro827=)
|
rs782371726
|
0.00002
|
NM_002900.3(RBP3):c.2866G>A (p.Glu956Lys)
|
rs781847641
|
0.00002
|
NM_002900.3(RBP3):c.2921G>A (p.Arg974Lys)
|
rs782423972
|
0.00002
|
NM_003042.4(SLC6A1):c.769C>T (p.Arg257Cys)
|
rs752750805
|
0.00002
|
NM_003060.4(SLC22A5):c.1199G>A (p.Arg400His)
|
rs371219688
|
0.00002
|
NM_003060.4(SLC22A5):c.1258G>C (p.Val420Leu)
|
rs535222699
|
0.00002
|
NM_003060.4(SLC22A5):c.1521G>C (p.Leu507Phe)
|
rs778716973
|
0.00002
|
NM_003060.4(SLC22A5):c.1533G>C (p.Glu511Asp)
|
rs748111365
|
0.00002
|
NM_003060.4(SLC22A5):c.183C>G (p.Ala61=)
|
rs1226557478
|
0.00002
|
NM_003060.4(SLC22A5):c.208C>T (p.Arg70Trp)
|
rs753453677
|
0.00002
|
NM_003060.4(SLC22A5):c.368T>G (p.Val123Gly)
|
rs748605096
|
0.00002
|
NM_003060.4(SLC22A5):c.522C>T (p.Phe174=)
|
rs145350949
|
0.00002
|
NM_003060.4(SLC22A5):c.706T>C (p.Cys236Arg)
|
rs747050292
|
0.00002
|
NM_003060.4(SLC22A5):c.853A>T (p.Ile285Phe)
|
rs1489260087
|
0.00002
|
NM_003060.4(SLC22A5):c.878C>T (p.Ala293Val)
|
rs893286644
|
0.00002
|
NM_003060.4(SLC22A5):c.951G>A (p.Glu317=)
|
rs1431971523
|
0.00002
|
NM_003124.5(SPR):c.380A>G (p.Asn127Ser)
|
rs755878397
|
0.00002
|
NM_003322.6(TULP1):c.1112+8T>C
|
rs1286919081
|
0.00002
|
NM_003322.6(TULP1):c.1563G>A (p.Pro521=)
|
rs1031077618
|
0.00002
|
NM_003322.6(TULP1):c.559C>T (p.Pro187Ser)
|
rs748334290
|
0.00002
|
NM_003322.6(TULP1):c.682G>A (p.Glu228Lys)
|
rs1469121973
|
0.00002
|
NM_003322.6(TULP1):c.719G>A (p.Gly240Asp)
|
rs773120841
|
0.00002
|
NM_003322.6(TULP1):c.823-8G>A
|
rs372183095
|
0.00002
|
NM_003322.6(TULP1):c.85C>T (p.Arg29Trp)
|
rs148838796
|
0.00002
|
NM_003611.3(OFD1):c.1025A>G (p.Tyr342Cys)
|
rs758712291
|
0.00002
|
NM_003611.3(OFD1):c.2022C>A (p.His674Gln)
|
rs759693810
|
0.00002
|
NM_003611.3(OFD1):c.634C>T (p.Arg212Trp)
|
rs776834508
|
0.00002
|
NM_003611.3(OFD1):c.730A>G (p.Met244Val)
|
rs770614769
|
0.00002
|
NM_003748.3(ALDH4A1):c.-37C>A
|
rs886045708
|
0.00002
|
NM_003748.4(ALDH4A1):c.1195C>T (p.Arg399Cys)
|
rs138308070
|
0.00002
|
NM_003748.4(ALDH4A1):c.1632G>A (p.Pro544=)
|
rs759926379
|
0.00002
|
NM_003748.4(ALDH4A1):c.361A>G (p.Ile121Val)
|
rs779876883
|
0.00002
|
NM_003748.4(ALDH4A1):c.415C>T (p.Arg139Cys)
|
rs942019101
|
0.00002
|
NM_003748.4(ALDH4A1):c.679-6G>A
|
rs369992538
|
0.00002
|
NM_003748.4(ALDH4A1):c.749G>A (p.Arg250Gln)
|
rs758064983
|
0.00002
|
NM_003748.4(ALDH4A1):c.759C>T (p.Gly253=)
|
rs535815477
|
0.00002
|
NM_003982.4(SLC7A7):c.106G>A (p.Glu36Lys)
|
rs763832201
|
0.00002
|
NM_003982.4(SLC7A7):c.1210C>T (p.Arg404Cys)
|
rs763715975
|
0.00002
|
NM_003982.4(SLC7A7):c.1457T>C (p.Leu486Pro)
|
rs781546826
|
0.00002
|
NM_003982.4(SLC7A7):c.1463T>C (p.Met488Thr)
|
rs751601259
|
0.00002
|
NM_003982.4(SLC7A7):c.1468G>C (p.Val490Leu)
|
rs998787372
|
0.00002
|
NM_003982.4(SLC7A7):c.269A>T (p.Tyr90Phe)
|
rs375791337
|
0.00002
|
NM_003982.4(SLC7A7):c.342C>T (p.Phe114=)
|
rs777682875
|
0.00002
|
NM_003982.4(SLC7A7):c.589G>A (p.Ala197Thr)
|
rs1005993109
|
0.00002
|
NM_003982.4(SLC7A7):c.704C>G (p.Ala235Gly)
|
rs755663586
|
0.00002
|
NM_004170.6(SLC1A1):c.*1809T>C
|
rs1008525347
|
0.00002
|
NM_004170.6(SLC1A1):c.*767A>G
|
rs1303176983
|
0.00002
|
NM_004170.6(SLC1A1):c.*852C>T
|
rs776464749
|
0.00002
|
NM_004170.6(SLC1A1):c.173T>A (p.Ile58Asn)
|
rs750142585
|
0.00002
|
NM_004170.6(SLC1A1):c.441-5A>C
|
rs774710357
|
0.00002
|
NM_004170.6(SLC1A1):c.812T>C (p.Ile271Thr)
|
rs771833630
|
0.00002
|
NM_004172.5(SLC1A3):c.1397C>T (p.Thr466Met)
|
rs763798684
|
0.00002
|
NM_004183.4(BEST1):c.1330G>A (p.Ala444Thr)
|
rs765604572
|
0.00002
|
NM_004183.4(BEST1):c.139C>T (p.Arg47Cys)
|
rs765333778
|
0.00002
|
NM_004183.4(BEST1):c.302C>T (p.Pro101Leu)
|
rs374517178
|
0.00002
|
NM_004183.4(BEST1):c.954C>G (p.Ser318=)
|
rs144231113
|
0.00002
|
NM_004279.3(PMPCB):c.-3G>T
|
rs771831705
|
0.00002
|
NM_004311.4(ARL3):c.472T>G (p.Cys158Gly)
|
rs778332463
|
0.00002
|
NM_004408.4(DNM1):c.293G>A (p.Arg98His)
|
rs748195071
|
0.00002
|
NM_004408.4(DNM1):c.774C>G (p.Phe258Leu)
|
rs146211149
|
0.00002
|
NM_004453.4(ETFDH):c.1324T>A (p.Ser442Thr)
|
rs1255214567
|
0.00002
|
NM_004453.4(ETFDH):c.1732C>T (p.Arg578Trp)
|
rs763912783
|
0.00002
|
NM_004453.4(ETFDH):c.545G>A (p.Trp182Ter)
|
rs767249944
|
0.00002
|
NM_004453.4(ETFDH):c.636A>T (p.Lys212Asn)
|
rs758859840
|
0.00002
|
NM_004453.4(ETFDH):c.808A>G (p.Thr270Ala)
|
rs398124154
|
0.00002
|
NM_004453.4(ETFDH):c.91A>G (p.Thr31Ala)
|
rs182144074
|
0.00002
|
NM_004483.5(GCSH):c.505A>C (p.Lys169Gln)
|
rs1189328619
|
0.00002
|
NM_004483.5(GCSH):c.514G>A (p.Glu172Lys)
|
rs760566469
|
0.00002
|
NM_004483.5(GCSH):c.73C>T (p.Pro25Ser)
|
rs533447730
|
0.00002
|
NM_004577.4(PSPH):c.469G>T (p.Gly157Ter)
|
rs1410416350
|
0.00002
|
NM_004577.4(PSPH):c.597T>G (p.Asn199Lys)
|
rs1324086852
|
0.00002
|
NM_004577.4(PSPH):c.635A>G (p.Tyr212Cys)
|
rs775832385
|
0.00002
|
NM_004577.4(PSPH):c.94G>A (p.Asp32Asn)
|
rs104894035
|
0.00002
|
NM_004744.5(LRAT):c.476A>G (p.Asn159Ser)
|
rs202066076
|
0.00002
|
NM_004937.3(CTNS):c.*176G>A
|
rs200021713
|
0.00002
|
NM_004937.3(CTNS):c.*1889C>T
|
rs557935819
|
0.00002
|
NM_004937.3(CTNS):c.*206C>T
|
rs367951710
|
0.00002
|
NM_004937.3(CTNS):c.*2243G>A
|
rs897077378
|
0.00002
|
NM_004937.3(CTNS):c.*259C>T
|
rs771746416
|
0.00002
|
NM_004937.3(CTNS):c.*550G>A
|
rs920508760
|
0.00002
|
NM_004937.3(CTNS):c.187C>T (p.Arg63Cys)
|
rs555311279
|
0.00002
|
NM_004937.3(CTNS):c.481G>A (p.Asp161Asn)
|
rs371533565
|
0.00002
|
NM_004974.4(KCNA2):c.1375A>G (p.Met459Val)
|
rs371146552
|
0.00002
|
NM_004974.4(KCNA2):c.218G>A (p.Arg73Gln)
|
rs373042266
|
0.00002
|
NM_004974.4(KCNA2):c.544C>A (p.Leu182Met)
|
rs367662144
|
0.00002
|
NM_004974.4(KCNA2):c.68A>G (p.Tyr23Cys)
|
rs753829876
|
0.00002
|
NM_004974.4(KCNA2):c.754A>G (p.Thr252Ala)
|
rs772053786
|
0.00002
|
NM_004974.4(KCNA2):c.841G>A (p.Ala281Thr)
|
rs753926939
|
0.00002
|
NM_004975.4(KCNB1):c.1595T>C (p.Met532Thr)
|
rs781098579
|
0.00002
|
NM_004975.4(KCNB1):c.1724G>A (p.Arg575His)
|
rs544069848
|
0.00002
|
NM_004975.4(KCNB1):c.2009G>A (p.Arg670Gln)
|
rs753575587
|
0.00002
|
NM_004975.4(KCNB1):c.2537G>T (p.Gly846Val)
|
rs1386449842
|
0.00002
|
NM_005050.4(ABCD4):c.1096G>A (p.Glu366Lys)
|
rs771010169
|
0.00002
|
NM_005050.4(ABCD4):c.20C>T (p.Ala7Val)
|
rs763842574
|
0.00002
|
NM_005050.4(ABCD4):c.859G>A (p.Val287Ile)
|
rs764251926
|
0.00002
|
NM_005148.4(UNC119):c.39G>A (p.Ala13=)
|
rs749427491
|
0.00002
|
NM_005148.4(UNC119):c.526G>A (p.Asp176Asn)
|
rs772710984
|
0.00002
|
NM_005271.5(GLUD1):c.1494G>A (p.Ser498=)
|
rs759865842
|
0.00002
|
NM_005271.5(GLUD1):c.154C>A (p.His52Asn)
|
rs750420022
|
0.00002
|
NM_005271.5(GLUD1):c.330G>A (p.Lys110=)
|
rs199752396
|
0.00002
|
NM_005271.5(GLUD1):c.55C>T (p.Leu19=)
|
rs892387294
|
0.00002
|
NM_005327.7(HADH):c.34G>A (p.Val12Met)
|
rs139920805
|
0.00002
|
NM_005327.7(HADH):c.479C>T (p.Thr160Ile)
|
rs780252799
|
0.00002
|
NM_005327.7(HADH):c.757G>A (p.Gly253Ser)
|
rs749276908
|
0.00002
|
NM_005327.7(HADH):c.817A>G (p.Ile273Val)
|
rs1404810726
|
0.00002
|
NM_005327.7(HADH):c.863A>C (p.Gln288Pro)
|
rs751120678
|
0.00002
|
NM_005334.3(HCFC1):c.1429G>A (p.Ala477Thr)
|
rs782010359
|
0.00002
|
NM_005334.3(HCFC1):c.3611G>A (p.Arg1204His)
|
rs782325660
|
0.00002
|
NM_005334.3(HCFC1):c.3754C>T (p.Pro1252Ser)
|
rs782399563
|
0.00002
|
NM_005334.3(HCFC1):c.4315A>C (p.Asn1439His)
|
rs782138046
|
0.00002
|
NM_005334.3(HCFC1):c.4520C>T (p.Ser1507Leu)
|
rs782560491
|
0.00002
|
NM_005334.3(HCFC1):c.4910C>T (p.Ala1637Val)
|
rs1002620023
|
0.00002
|
NM_005518.4(HMGCS2):c.*765G>A
|
rs587722758
|
0.00002
|
NM_005518.4(HMGCS2):c.1127C>T (p.Thr376Ile)
|
rs772359110
|
0.00002
|
NM_005518.4(HMGCS2):c.1220T>C (p.Ile407Thr)
|
rs766898190
|
0.00002
|
NM_005518.4(HMGCS2):c.1236T>C (p.Tyr412=)
|
rs773364048
|
0.00002
|
NM_005518.4(HMGCS2):c.346C>T (p.Arg116Cys)
|
rs200607527
|
0.00002
|
NM_005518.4(HMGCS2):c.695G>T (p.Gly232Val)
|
rs1002548815
|
0.00002
|
NM_005518.4(HMGCS2):c.830T>A (p.Ile277Asn)
|
rs775637086
|
0.00002
|
NM_005518.4(HMGCS2):c.940C>T (p.Arg314Cys)
|
rs781567781
|
0.00002
|
NM_005589.4(ALDH6A1):c.*1759C>T
|
rs922749897
|
0.00002
|
NM_005589.4(ALDH6A1):c.*2328C>T
|
rs750992221
|
0.00002
|
NM_005589.4(ALDH6A1):c.1400G>A (p.Gly467Glu)
|
rs747566637
|
0.00002
|
NM_005629.4(SLC6A8):c.146T>C (p.Val49Ala)
|
rs1557043838
|
0.00002
|
NM_005629.4(SLC6A8):c.1627G>A (p.Glu543Lys)
|
rs782028471
|
0.00002
|
NM_005629.4(SLC6A8):c.1767G>A (p.Glu589=)
|
rs1131691726
|
0.00002
|
NM_005629.4(SLC6A8):c.1819C>G (p.Arg607Gly)
|
rs1377233837
|
0.00002
|
NM_005629.4(SLC6A8):c.421G>A (p.Val141Ile)
|
rs1557044413
|
0.00002
|
NM_005629.4(SLC6A8):c.70G>C (p.Ala24Pro)
|
rs1557043775
|
0.00002
|
NM_005629.4(SLC6A8):c.760G>A (p.Val254Ile)
|
rs782287359
|
0.00002
|
NM_005629.4(SLC6A8):c.76G>A (p.Gly26Arg)
|
rs1233444890
|
0.00002
|
NM_005802.5(TOPORS):c.*686T>C
|
rs192538022
|
0.00002
|
NM_005802.5(TOPORS):c.1353A>C (p.Thr451=)
|
rs1382029583
|
0.00002
|
NM_005802.5(TOPORS):c.1725C>T (p.Asn575=)
|
rs757674137
|
0.00002
|
NM_005802.5(TOPORS):c.1938A>C (p.Ser646=)
|
rs376719585
|
0.00002
|
NM_005802.5(TOPORS):c.2873A>T (p.Glu958Val)
|
rs757527959
|
0.00002
|
NM_005957.5(MTHFR):c.1571C>A (p.Ala524Glu)
|
rs774934088
|
0.00002
|
NM_005957.5(MTHFR):c.1760C>G (p.Ala587Gly)
|
rs761226286
|
0.00002
|
NM_005957.5(MTHFR):c.330G>C (p.Met110Ile)
|
rs781158269
|
0.00002
|
NM_005957.5(MTHFR):c.575T>C (p.Ile192Thr)
|
rs765834557
|
0.00002
|
NM_005957.5(MTHFR):c.815C>T (p.Ser272Phe)
|
rs1160573823
|
0.00002
|
NM_006017.3(PROM1):c.1377C>T (p.Gly459=)
|
rs779072238
|
0.00002
|
NM_006017.3(PROM1):c.1468A>T (p.Ser490Cys)
|
rs536622788
|
0.00002
|
NM_006017.3(PROM1):c.1982T>C (p.Leu661Ser)
|
rs372632641
|
0.00002
|
NM_006017.3(PROM1):c.2450A>G (p.Lys817Arg)
|
rs1231060253
|
0.00002
|
NM_006017.3(PROM1):c.2578A>G (p.Thr860Ala)
|
rs747844753
|
0.00002
|
NM_006017.3(PROM1):c.792G>A (p.Lys264=)
|
rs776605111
|
0.00002
|
NM_006269.2(RP1):c.1439T>C (p.Ile480Thr)
|
rs753472746
|
0.00002
|
NM_006269.2(RP1):c.1516A>G (p.Ser506Gly)
|
rs546625124
|
0.00002
|
NM_006269.2(RP1):c.2825C>T (p.Thr942Met)
|
rs112323560
|
0.00002
|
NM_006269.2(RP1):c.6056G>A (p.Gly2019Asp)
|
rs750005747
|
0.00002
|
NM_006269.2(RP1):c.6353G>A (p.Ser2118Asn)
|
rs753732597
|
0.00002
|
NM_006269.2(RP1):c.919T>C (p.Ser307Pro)
|
rs377130833
|
0.00002
|
NM_006343.3(MERTK):c.1691T>C (p.Leu564Ser)
|
rs200794038
|
0.00002
|
NM_006343.3(MERTK):c.21G>T (p.Pro7=)
|
rs752112582
|
0.00002
|
NM_006343.3(MERTK):c.2245T>G (p.Tyr749Asp)
|
rs541892026
|
0.00002
|
NM_006343.3(MERTK):c.520A>T (p.Ile174Phe)
|
rs775179251
|
0.00002
|
NM_006445.4(PRPF8):c.*36C>G
|
rs776962939
|
0.00002
|
NM_006445.4(PRPF8):c.-24G>A
|
rs886052619
|
0.00002
|
NM_006445.4(PRPF8):c.1311C>T (p.Ala437=)
|
rs747870802
|
0.00002
|
NM_006445.4(PRPF8):c.3009C>T (p.His1003=)
|
rs149785500
|
0.00002
|
NM_006445.4(PRPF8):c.6078C>T (p.Ile2026=)
|
rs374672916
|
0.00002
|
NM_006623.3(PHGDH):c.-222G>A
|
rs60544490
|
0.00002
|
NM_006623.4(PHGDH):c.1096G>T (p.Ala366Ser)
|
rs138515760
|
0.00002
|
NM_006623.4(PHGDH):c.1285G>C (p.Gly429Arg)
|
rs145854744
|
0.00002
|
NM_006623.4(PHGDH):c.1362G>T (p.Arg454Ser)
|
rs140457132
|
0.00002
|
NM_006623.4(PHGDH):c.1365A>G (p.Pro455=)
|
rs1264262485
|
0.00002
|
NM_006623.4(PHGDH):c.1406G>A (p.Arg469Gln)
|
rs139764141
|
0.00002
|
NM_006623.4(PHGDH):c.374C>T (p.Thr125Met)
|
rs764618040
|
0.00002
|
NM_006623.4(PHGDH):c.400G>A (p.Glu134Lys)
|
rs139129607
|
0.00002
|
NM_006623.4(PHGDH):c.404G>A (p.Arg135Gln)
|
rs774423823
|
0.00002
|
NM_006623.4(PHGDH):c.772G>T (p.Ala258Ser)
|
rs1375551954
|
0.00002
|
NM_006623.4(PHGDH):c.788C>T (p.Thr263Met)
|
rs773221019
|
0.00002
|
NM_006623.4(PHGDH):c.804G>A (p.Arg268=)
|
rs587719252
|
0.00002
|
NM_006721.4(ADK):c.*337T>G
|
rs886047238
|
0.00002
|
NM_006859.4(LIAS):c.101A>G (p.Lys34Arg)
|
rs185737442
|
0.00002
|
NM_006859.4(LIAS):c.403G>C (p.Asp135His)
|
rs772011702
|
0.00002
|
NM_006859.4(LIAS):c.616A>G (p.Lys206Glu)
|
rs1328126199
|
0.00002
|
NM_006859.4(LIAS):c.788A>G (p.Lys263Arg)
|
rs1375530921
|
0.00002
|
NM_006859.4(LIAS):c.890G>A (p.Arg297His)
|
rs756021613
|
0.00002
|
NM_006899.5(IDH3B):c.1082G>A (p.Arg361Gln)
|
rs145651330
|
0.00002
|
NM_006899.5(IDH3B):c.399-12G>T
|
rs781697514
|
0.00002
|
NM_006915.3(RP2):c.-26G>T
|
rs782652659
|
0.00002
|
NM_006915.3(RP2):c.-35A>G
|
rs909119773
|
0.00002
|
NM_006915.3(RP2):c.506A>G (p.Asn169Ser)
|
rs138024658
|
0.00002
|
NM_012213.3(MLYCD):c.1004C>A (p.Thr335Asn)
|
rs76060070
|
0.00002
|
NM_012213.3(MLYCD):c.1058A>C (p.Glu353Ala)
|
rs966540879
|
0.00002
|
NM_012213.3(MLYCD):c.1081A>G (p.Lys361Glu)
|
rs1287261177
|
0.00002
|
NM_012213.3(MLYCD):c.1276A>G (p.Asn426Asp)
|
rs771229830
|
0.00002
|
NM_012213.3(MLYCD):c.208G>A (p.Asp70Asn)
|
rs1336491665
|
0.00002
|
NM_012418.4(FSCN2):c.833A>G (p.Asn278Ser)
|
rs988890666
|
0.00002
|
NM_012463.4(ATP6V0A2):c.*1680C>T
|
rs886049067
|
0.00002
|
NM_012463.4(ATP6V0A2):c.2072T>C (p.Ile691Thr)
|
rs144946016
|
0.00002
|
NM_012463.4(ATP6V0A2):c.2339G>A (p.Arg780His)
|
rs774276857
|
0.00002
|
NM_012469.4(PRPF6):c.193G>A (p.Ala65Thr)
|
rs771734100
|
0.00002
|
NM_014014.5(SNRNP200):c.*333G>A
|
rs886056455
|
0.00002
|
NM_014014.5(SNRNP200):c.*337G>A
|
rs886056454
|
0.00002
|
NM_014014.5(SNRNP200):c.5346G>A (p.Ser1782=)
|
rs756239767
|
0.00002
|
NM_014014.5(SNRNP200):c.5665G>A (p.Val1889Ile)
|
rs200367764
|
0.00002
|
NM_014014.5(SNRNP200):c.574+12C>T
|
rs761734438
|
0.00002
|
NM_014014.5(SNRNP200):c.6174+4C>T
|
rs774620973
|
0.00002
|
NM_014014.5(SNRNP200):c.93C>T (p.Thr31=)
|
rs886056468
|
0.00002
|
NM_014049.5(ACAD9):c.1013A>C (p.Glu338Ala)
|
rs760934225
|
0.00002
|
NM_014049.5(ACAD9):c.452A>G (p.Lys151Arg)
|
rs774429198
|
0.00002
|
NM_014249.4(NR2E3):c.*546A>G
|
rs376195026
|
0.00002
|
NM_014249.4(NR2E3):c.264G>T (p.Gly88=)
|
rs558123422
|
0.00002
|
NM_014249.4(NR2E3):c.364C>T (p.Arg122Cys)
|
rs527236086
|
0.00002
|
NM_014249.4(NR2E3):c.371C>T (p.Pro124Leu)
|
rs958455222
|
0.00002
|
NM_014249.4(NR2E3):c.572-13C>T
|
rs376114936
|
0.00002
|
NM_014251.3(SLC25A13):c.*750T>C
|
rs770563944
|
0.00002
|
NM_014251.3(SLC25A13):c.1157G>C (p.Gly386Ala)
|
rs776461118
|
0.00002
|
NM_014251.3(SLC25A13):c.1419C>T (p.Val473=)
|
rs201598915
|
0.00002
|
NM_014251.3(SLC25A13):c.16-4A>G
|
rs369564645
|
0.00002
|
NM_014251.3(SLC25A13):c.1631T>C (p.Ile544Thr)
|
rs754054414
|
0.00002
|
NM_014251.3(SLC25A13):c.332A>G (p.Asp111Gly)
|
rs766809778
|
0.00002
|
NM_014251.3(SLC25A13):c.571C>T (p.Arg191Cys)
|
rs199744651
|
0.00002
|
NM_014252.4(SLC25A15):c.*2272G>A
|
rs865875322
|
0.00002
|
NM_014252.4(SLC25A15):c.*738C>T
|
rs1424783770
|
0.00002
|
NM_014252.4(SLC25A15):c.*990T>C
|
rs183698412
|
0.00002
|
NM_014252.4(SLC25A15):c.133C>T (p.Arg45Trp)
|
rs540292884
|
0.00002
|
NM_014252.4(SLC25A15):c.181C>T (p.Arg61Cys)
|
rs552342390
|
0.00002
|
NM_014252.4(SLC25A15):c.217G>A (p.Ala73Thr)
|
rs531611390
|
0.00002
|
NM_014252.4(SLC25A15):c.397C>T (p.Arg133Trp)
|
rs573469049
|
0.00002
|
NM_014252.4(SLC25A15):c.581G>A (p.Ser194Asn)
|
rs746179010
|
0.00002
|
NM_014252.4(SLC25A15):c.862G>A (p.Glu288Lys)
|
rs751176510
|
0.00002
|
NM_014270.5(SLC7A9):c.1074+14C>A
|
rs367844535
|
0.00002
|
NM_014270.5(SLC7A9):c.1399A>G (p.Lys467Glu)
|
rs201241670
|
0.00002
|
NM_014270.5(SLC7A9):c.466G>A (p.Ala156Thr)
|
rs1294879564
|
0.00002
|
NM_014270.5(SLC7A9):c.813C>T (p.Asn271=)
|
rs371236313
|
0.00002
|
NM_014336.5(AIPL1):c.414C>T (p.Asp138=)
|
rs565896898
|
0.00002
|
NM_014362.4(HIBCH):c.226G>A (p.Glu76Lys)
|
rs778434126
|
0.00002
|
NM_014362.4(HIBCH):c.353T>C (p.Phe118Ser)
|
rs758938066
|
0.00002
|
NM_014384.3(ACAD8):c.1036G>A (p.Asp346Asn)
|
rs150537378
|
0.00002
|
NM_014384.3(ACAD8):c.1133A>C (p.Tyr378Ser)
|
rs779459988
|
0.00002
|
NM_014384.3(ACAD8):c.290G>A (p.Gly97Glu)
|
rs1433228446
|
0.00002
|
NM_014384.3(ACAD8):c.491-6C>T
|
rs772337149
|
0.00002
|
NM_014384.3(ACAD8):c.841+6A>C
|
rs199738913
|
0.00002
|
NM_014714.4(IFT140):c.127G>A (p.Val43Met)
|
rs150649451
|
0.00002
|
NM_014714.4(IFT140):c.1309G>A (p.Ala437Thr)
|
rs373106880
|
0.00002
|
NM_014714.4(IFT140):c.2200-20A>G
|
rs760501465
|
0.00002
|
NM_014714.4(IFT140):c.2372C>G (p.Ala791Gly)
|
rs758544371
|
0.00002
|
NM_014714.4(IFT140):c.2701C>T (p.Arg901Cys)
|
rs778004145
|
0.00002
|
NM_014714.4(IFT140):c.2702G>A (p.Arg901His)
|
rs374245105
|
0.00002
|
NM_014714.4(IFT140):c.3148G>A (p.Gly1050Ser)
|
rs763140298
|
0.00002
|
NM_014714.4(IFT140):c.3526G>A (p.Val1176Met)
|
rs764946729
|
0.00002
|
NM_014714.4(IFT140):c.35C>T (p.Pro12Leu)
|
rs542803163
|
0.00002
|
NM_014714.4(IFT140):c.3602G>A (p.Arg1201His)
|
rs147292597
|
0.00002
|
NM_014714.4(IFT140):c.3671C>T (p.Ala1224Val)
|
rs369161842
|
0.00002
|
NM_014714.4(IFT140):c.3875T>C (p.Val1292Ala)
|
rs138311751
|
0.00002
|
NM_014714.4(IFT140):c.3925G>A (p.Glu1309Lys)
|
rs756142477
|
0.00002
|
NM_014714.4(IFT140):c.4043C>T (p.Thr1348Met)
|
rs557586568
|
0.00002
|
NM_014714.4(IFT140):c.773C>T (p.Thr258Met)
|
rs140020318
|
0.00002
|
NM_015506.2(MMACHC):c.-123A>T
|
rs539415170
|
0.00002
|
NM_015506.3(MMACHC):c.53C>T (p.Pro18Leu)
|
rs371004372
|
0.00002
|
NM_015506.3(MMACHC):c.683C>T (p.Ala228Val)
|
rs201269886
|
0.00002
|
NM_015506.3(MMACHC):c.800G>A (p.Arg267Gln)
|
rs765822392
|
0.00002
|
NM_015506.3(MMACHC):c.840del (p.Gly281fs)
|
rs757384010
|
0.00002
|
NM_015509.4(NECAP1):c.137G>A (p.Arg46His)
|
rs751979807
|
0.00002
|
NM_015509.4(NECAP1):c.437G>A (p.Arg146His)
|
rs769210779
|
0.00002
|
NM_015509.4(NECAP1):c.647C>T (p.Pro216Leu)
|
rs748757462
|
0.00002
|
NM_015629.4(PRPF31):c.*9G>A
|
rs369008153
|
0.00002
|
NM_015629.4(PRPF31):c.107A>G (p.Gln36Arg)
|
rs781412138
|
0.00002
|
NM_015629.4(PRPF31):c.1268C>T (p.Thr423Met)
|
rs753277924
|
0.00002
|
NM_015629.4(PRPF31):c.149C>T (p.Thr50Ile)
|
rs373578680
|
0.00002
|
NM_015629.4(PRPF31):c.855+12G>A
|
rs763372742
|
0.00002
|
NM_015629.4(PRPF31):c.910C>T (p.Arg304Cys)
|
rs750340477
|
0.00002
|
NM_015662.3(IFT172):c.1005+10A>T
|
rs771534291
|
0.00002
|
NM_015662.3(IFT172):c.1009A>G (p.Ile337Val)
|
rs774559020
|
0.00002
|
NM_015662.3(IFT172):c.1238A>G (p.Asn413Ser)
|
rs962054597
|
0.00002
|
NM_015662.3(IFT172):c.1243G>A (p.Gly415Arg)
|
rs746834072
|
0.00002
|
NM_015662.3(IFT172):c.135A>T (p.Glu45Asp)
|
rs1350745027
|
0.00002
|
NM_015662.3(IFT172):c.1367A>T (p.Asn456Ile)
|
rs528303561
|
0.00002
|
NM_015662.3(IFT172):c.1414G>A (p.Asp472Asn)
|
rs747544155
|
0.00002
|
NM_015662.3(IFT172):c.1655T>C (p.Ile552Thr)
|
rs369863525
|
0.00002
|
NM_015662.3(IFT172):c.1768T>C (p.Tyr590His)
|
rs1667049048
|
0.00002
|
NM_015662.3(IFT172):c.1973G>A (p.Arg658Gln)
|
rs376890875
|
0.00002
|
NM_015662.3(IFT172):c.1997T>C (p.Ile666Thr)
|
rs777173046
|
0.00002
|
NM_015662.3(IFT172):c.2026G>A (p.Gly676Arg)
|
rs761290683
|
0.00002
|
NM_015662.3(IFT172):c.2176G>A (p.Ala726Thr)
|
rs188779949
|
0.00002
|
NM_015662.3(IFT172):c.2204C>A (p.Ala735Asp)
|
rs773174861
|
0.00002
|
NM_015662.3(IFT172):c.2437G>A (p.Glu813Lys)
|
rs1036729851
|
0.00002
|
NM_015662.3(IFT172):c.2578T>C (p.Trp860Arg)
|
rs748125718
|
0.00002
|
NM_015662.3(IFT172):c.2722C>T (p.Arg908Trp)
|
rs745644146
|
0.00002
|
NM_015662.3(IFT172):c.3053G>A (p.Arg1018His)
|
rs375879787
|
0.00002
|
NM_015662.3(IFT172):c.3146A>C (p.Glu1049Ala)
|
rs138139922
|
0.00002
|
NM_015662.3(IFT172):c.3197G>A (p.Arg1066Gln)
|
rs759282959
|
0.00002
|
NM_015662.3(IFT172):c.328A>T (p.Ile110Phe)
|
rs747883999
|
0.00002
|
NM_015662.3(IFT172):c.3739C>T (p.Arg1247Cys)
|
rs375755957
|
0.00002
|
NM_015662.3(IFT172):c.3989G>A (p.Arg1330His)
|
rs202236985
|
0.00002
|
NM_015662.3(IFT172):c.403-16A>G
|
rs367657817
|
0.00002
|
NM_015662.3(IFT172):c.406C>T (p.Arg136Cys)
|
rs753783467
|
0.00002
|
NM_015662.3(IFT172):c.4108G>A (p.Glu1370Lys)
|
rs779981992
|
0.00002
|
NM_015662.3(IFT172):c.412G>A (p.Ala138Thr)
|
rs1461000488
|
0.00002
|
NM_015662.3(IFT172):c.4136G>A (p.Arg1379His)
|
rs772212247
|
0.00002
|
NM_015662.3(IFT172):c.4364G>A (p.Arg1455Gln)
|
rs747215055
|
0.00002
|
NM_015662.3(IFT172):c.4484A>G (p.Asn1495Ser)
|
rs760535770
|
0.00002
|
NM_015662.3(IFT172):c.4489G>A (p.Ala1497Thr)
|
rs759653536
|
0.00002
|
NM_015662.3(IFT172):c.4612G>A (p.Ala1538Thr)
|
rs770733075
|
0.00002
|
NM_015662.3(IFT172):c.4627A>G (p.Thr1543Ala)
|
rs769170592
|
0.00002
|
NM_015662.3(IFT172):c.4793A>G (p.Asn1598Ser)
|
rs755477787
|
0.00002
|
NM_015662.3(IFT172):c.4813G>A (p.Asp1605Asn)
|
rs755717990
|
0.00002
|
NM_015662.3(IFT172):c.5024T>C (p.Val1675Ala)
|
rs774361785
|
0.00002
|
NM_015662.3(IFT172):c.5029G>T (p.Ala1677Ser)
|
rs766918099
|
0.00002
|
NM_015662.3(IFT172):c.5033G>A (p.Ser1678Asn)
|
rs972056548
|
0.00002
|
NM_015662.3(IFT172):c.5068G>C (p.Gly1690Arg)
|
rs200049734
|
0.00002
|
NM_015662.3(IFT172):c.529G>A (p.Val177Ile)
|
rs754880269
|
0.00002
|
NM_015662.3(IFT172):c.650G>A (p.Arg217Gln)
|
rs777862424
|
0.00002
|
NM_015662.3(IFT172):c.673G>C (p.Glu225Gln)
|
rs767999703
|
0.00002
|
NM_015662.3(IFT172):c.721C>T (p.Arg241Trp)
|
rs772012378
|
0.00002
|
NM_015702.3(MMADHC):c.364G>A (p.Glu122Lys)
|
rs777544556
|
0.00002
|
NM_015702.3(MMADHC):c.373G>C (p.Gly125Arg)
|
rs760971849
|
0.00002
|
NM_015702.3(MMADHC):c.697-3C>T
|
rs770272562
|
0.00002
|
NM_015702.3(MMADHC):c.743G>A (p.Arg248His)
|
rs756858861
|
0.00002
|
NM_015702.3(MMADHC):c.800A>G (p.His267Arg)
|
rs753424109
|
0.00002
|
NM_016247.4(IMPG2):c.*1600C>T
|
rs570822374
|
0.00002
|
NM_016247.4(IMPG2):c.*3773C>T
|
rs763292855
|
0.00002
|
NM_016247.4(IMPG2):c.3386C>G (p.Ala1129Gly)
|
rs781172642
|
0.00002
|
NM_016247.4(IMPG2):c.361T>C (p.Phe121Leu)
|
rs752379965
|
0.00002
|
NM_016335.6(PRODH):c.1174C>T (p.Arg392Cys)
|
rs1336190354
|
0.00002
|
NM_016335.6(PRODH):c.1763G>A (p.Arg588Lys)
|
rs1239323884
|
0.00002
|
NM_016373.4(WWOX):c.517-108243C>T
|
rs551189075
|
0.00002
|
NM_017739.4(POMGNT1):c.1463G>A (p.Arg488Gln)
|
rs766382416
|
0.00002
|
NM_018191.4(RCBTB1):c.1202C>T (p.Ser401Leu)
|
rs556664001
|
0.00002
|
NM_018368.4(LMBRD1):c.1346T>C (p.Ile449Thr)
|
rs1340799992
|
0.00002
|
NM_018368.4(LMBRD1):c.187C>G (p.Leu63Val)
|
rs775365046
|
0.00002
|
NM_018368.4(LMBRD1):c.704T>C (p.Leu235Ser)
|
rs376076271
|
0.00002
|
NM_018368.4(LMBRD1):c.796A>G (p.Lys266Glu)
|
rs771226867
|
0.00002
|
NM_018368.4(LMBRD1):c.830G>A (p.Arg277Gln)
|
rs747354714
|
0.00002
|
NM_018368.4(LMBRD1):c.897C>T (p.Gly299=)
|
rs757392138
|
0.00002
|
NM_018418.5(SPATA7):c.1476C>A (p.Phe492Leu)
|
rs750676893
|
0.00002
|
NM_018706.7(DHTKD1):c.1040C>T (p.Thr347Met)
|
rs760006425
|
0.00002
|
NM_018706.7(DHTKD1):c.115G>A (p.Glu39Lys)
|
rs757691933
|
0.00002
|
NM_018706.7(DHTKD1):c.1258C>T (p.Arg420Cys)
|
rs762746645
|
0.00002
|
NM_018706.7(DHTKD1):c.1742C>G (p.Ser581Cys)
|
rs1348311643
|
0.00002
|
NM_018706.7(DHTKD1):c.1792C>T (p.Arg598Cys)
|
rs375292909
|
0.00002
|
NM_018706.7(DHTKD1):c.1853T>A (p.Ile618Asn)
|
rs761295635
|
0.00002
|
NM_018706.7(DHTKD1):c.22G>A (p.Ala8Thr)
|
rs371803487
|
0.00002
|
NM_018706.7(DHTKD1):c.2377G>A (p.Gly793Ser)
|
rs376837792
|
0.00002
|
NM_018706.7(DHTKD1):c.2390T>C (p.Val797Ala)
|
rs545835536
|
0.00002
|
NM_018706.7(DHTKD1):c.2429G>A (p.Gly810Asp)
|
rs781524340
|
0.00002
|
NM_018706.7(DHTKD1):c.2456A>G (p.Gln819Arg)
|
rs749073861
|
0.00002
|
NM_018706.7(DHTKD1):c.2658+2del
|
rs1453191182
|
0.00002
|
NM_018706.7(DHTKD1):c.2695G>A (p.Ala899Thr)
|
rs767599280
|
0.00002
|
NM_018706.7(DHTKD1):c.432C>A (p.Asp144Glu)
|
rs555471579
|
0.00002
|
NM_018706.7(DHTKD1):c.614T>G (p.Leu205Arg)
|
rs996258907
|
0.00002
|
NM_018706.7(DHTKD1):c.64C>A (p.Arg22Ser)
|
rs764415717
|
0.00002
|
NM_018706.7(DHTKD1):c.8C>G (p.Ser3Cys)
|
rs765392621
|
0.00002
|
NM_018706.7(DHTKD1):c.976A>G (p.Ile326Val)
|
rs745602291
|
0.00002
|
NM_020166.5(MCCC1):c.1226G>T (p.Arg409Leu)
|
rs371219844
|
0.00002
|
NM_020166.5(MCCC1):c.144C>T (p.Asn48=)
|
rs77681010
|
0.00002
|
NM_020166.5(MCCC1):c.1595A>G (p.Asp532Gly)
|
rs756076414
|
0.00002
|
NM_020166.5(MCCC1):c.161T>C (p.Ile54Thr)
|
rs796051987
|
0.00002
|
NM_020166.5(MCCC1):c.1644G>A (p.Ser548=)
|
rs150835353
|
0.00002
|
NM_020166.5(MCCC1):c.1709A>G (p.His570Arg)
|
rs761480737
|
0.00002
|
NM_020166.5(MCCC1):c.262C>T (p.His88Tyr)
|
rs778145370
|
0.00002
|
NM_020166.5(MCCC1):c.295G>A (p.Gly99Ser)
|
rs375244642
|
0.00002
|
NM_020166.5(MCCC1):c.387C>T (p.Cys129=)
|
rs761110034
|
0.00002
|
NM_020166.5(MCCC1):c.388G>A (p.Gly130Ser)
|
rs202197951
|
0.00002
|
NM_020166.5(MCCC1):c.428A>T (p.Lys143Met)
|
rs375326791
|
0.00002
|
NM_020166.5(MCCC1):c.695G>A (p.Arg232Gln)
|
rs148088842
|
0.00002
|
NM_020166.5(MCCC1):c.758C>T (p.Pro253Leu)
|
rs202083272
|
0.00002
|
NM_020166.5(MCCC1):c.898A>G (p.Lys300Glu)
|
rs753650692
|
0.00002
|
NM_020686.6(ABAT):c.*2794C>G
|
rs886052447
|
0.00002
|
NM_020686.6(ABAT):c.*479C>T
|
rs886052435
|
0.00002
|
NM_020686.6(ABAT):c.1054G>A (p.Val352Met)
|
rs775462540
|
0.00002
|
NM_020686.6(ABAT):c.106G>A (p.Asp36Asn)
|
rs766849835
|
0.00002
|
NM_020686.6(ABAT):c.431G>A (p.Arg144Gln)
|
rs745491786
|
0.00002
|
NM_020686.6(ABAT):c.484G>A (p.Ala162Thr)
|
rs750911984
|
0.00002
|
NM_020686.6(ABAT):c.830T>C (p.Ile277Thr)
|
rs540071491
|
0.00002
|
NM_020686.6(ABAT):c.961T>C (p.Cys321Arg)
|
rs1458922038
|
0.00002
|
NM_021831.6(AGBL5):c.2602C>A (p.Gln868Lys)
|
rs768632393
|
0.00002
|
NM_021831.6(AGBL5):c.842G>A (p.Arg281His)
|
rs1448861312
|
0.00002
|
NM_022132.5(MCCC2):c.*659C>T
|
rs886060740
|
0.00002
|
NM_022132.5(MCCC2):c.1124T>C (p.Val375Ala)
|
rs752139859
|
0.00002
|
NM_022132.5(MCCC2):c.129+3A>G
|
rs1352606118
|
0.00002
|
NM_022132.5(MCCC2):c.1334A>G (p.Tyr445Cys)
|
rs145475202
|
0.00002
|
NM_022132.5(MCCC2):c.1488+10del
|
rs767400522
|
0.00002
|
NM_022132.5(MCCC2):c.1665G>T (p.Lys555Asn)
|
rs771011115
|
0.00002
|
NM_022132.5(MCCC2):c.568C>T (p.His190Tyr)
|
rs773774134
|
0.00002
|
NM_022367.4(SEMA4A):c.1987G>A (p.Val663Ile)
|
rs202048433
|
0.00002
|
NM_024649.5(BBS1):c.1660A>T (p.Ser554Cys)
|
rs184614863
|
0.00002
|
NM_024818.6(UBA5):c.460G>A (p.Val154Met)
|
rs761169562
|
0.00002
|
NM_025136.4(OPA3):c.*1095C>A
|
rs148228876
|
0.00002
|
NM_025136.4(OPA3):c.*420A>G
|
rs868102539
|
0.00002
|
NM_025136.4(OPA3):c.*4439C>T
|
rs538388889
|
0.00002
|
NM_025136.4(OPA3):c.*5644A>G
|
rs1393651897
|
0.00002
|
NM_025136.4(OPA3):c.*5783G>A
|
rs550679720
|
0.00002
|
NM_025136.4(OPA3):c.*6124C>T
|
rs1389766474
|
0.00002
|
NM_025136.4(OPA3):c.*964G>A
|
rs1969350328
|
0.00002
|
NM_025136.4(OPA3):c.15G>C (p.Ala5=)
|
rs763315476
|
0.00002
|
NM_025136.4(OPA3):c.241G>A (p.Ala81Thr)
|
rs186796646
|
0.00002
|
NM_030943.4(AMN):c.1324G>A (p.Val442Ile)
|
rs760175392
|
0.00002
|
NM_031885.5(BBS2):c.112G>A (p.Gly38Ser)
|
rs768699088
|
0.00002
|
NM_031885.5(BBS2):c.118G>T (p.Val40Phe)
|
rs886043059
|
0.00002
|
NM_031885.5(BBS2):c.1220C>T (p.Ser407Phe)
|
rs1428784861
|
0.00002
|
NM_031885.5(BBS2):c.1333A>G (p.Ile445Val)
|
rs145757541
|
0.00002
|
NM_031885.5(BBS2):c.1713G>A (p.Met571Ile)
|
rs755329143
|
0.00002
|
NM_031885.5(BBS2):c.1879G>A (p.Gly627Arg)
|
rs149473225
|
0.00002
|
NM_031885.5(BBS2):c.1894C>T (p.Arg632Cys)
|
rs200021475
|
0.00002
|
NM_031885.5(BBS2):c.2144G>A (p.Arg715Gln)
|
rs761068592
|
0.00002
|
NM_032316.3(NICN1):c.*2157G>A
|
rs1244431682
|
0.00002
|
NM_032601.4(MCEE):c.136G>A (p.Gly46Ser)
|
rs772033573
|
0.00002
|
NM_032601.4(MCEE):c.271C>A (p.Leu91Met)
|
rs200681141
|
0.00002
|
NM_032601.4(MCEE):c.376G>A (p.Glu126Lys)
|
rs779113206
|
0.00002
|
NM_032601.4(MCEE):c.440A>G (p.Glu147Gly)
|
rs75608389
|
0.00002
|
NM_032861.4(SERAC1):c.1270A>G (p.Met424Val)
|
rs367903368
|
0.00002
|
NM_032861.4(SERAC1):c.1309-19T>G
|
rs372001660
|
0.00002
|
NM_032861.4(SERAC1):c.1642T>C (p.Tyr548His)
|
rs1331741437
|
0.00002
|
NM_032861.4(SERAC1):c.1846C>A (p.Leu616Ile)
|
rs780572089
|
0.00002
|
NM_032861.4(SERAC1):c.487+5T>C
|
rs748641688
|
0.00002
|
NM_032861.4(SERAC1):c.932G>T (p.Cys311Phe)
|
rs1449129513
|
0.00002
|
NM_033100.4(CDHR1):c.152-9T>C
|
rs754726772
|
0.00002
|
NM_033100.4(CDHR1):c.1853A>G (p.Asn618Ser)
|
rs776826024
|
0.00002
|
NM_052845.4(MMAB):c.*1747A>G
|
rs886048917
|
0.00002
|
NM_052845.4(MMAB):c.*2619A>T
|
rs778528128
|
0.00002
|
NM_052845.4(MMAB):c.*2783G>A
|
rs1012338830
|
0.00002
|
NM_052845.4(MMAB):c.*2890C>T
|
rs1005573398
|
0.00002
|
NM_052845.4(MMAB):c.298C>T (p.Leu100=)
|
rs751553040
|
0.00002
|
NM_052845.4(MMAB):c.372C>T (p.Val124=)
|
rs371092213
|
0.00002
|
NM_052845.4(MMAB):c.373G>A (p.Gly125Ser)
|
rs193015172
|
0.00002
|
NM_052845.4(MMAB):c.548A>T (p.His183Leu)
|
rs752866643
|
0.00002
|
NM_052845.4(MMAB):c.589G>T (p.Val197Leu)
|
rs780166156
|
0.00002
|
NM_052845.4(MMAB):c.68G>A (p.Gly23Asp)
|
rs767706407
|
0.00002
|
NM_054012.4(ASS1):c.*129C>T
|
rs886063533
|
0.00002
|
NM_054012.4(ASS1):c.490G>A (p.Ala164Thr)
|
rs201445618
|
0.00002
|
NM_054012.4(ASS1):c.920G>A (p.Arg307His)
|
rs571576756
|
0.00002
|
NM_054012.4(ASS1):c.929A>G (p.Lys310Arg)
|
rs199751308
|
0.00002
|
NM_054012.4(ASS1):c.930A>G (p.Lys310=)
|
rs200219927
|
0.00002
|
NM_054012.4(ASS1):c.94A>G (p.Ile32Val)
|
rs142221856
|
0.00002
|
NM_058179.4(PSAT1):c.398-14G>A
|
rs202026355
|
0.00002
|
NM_058179.4(PSAT1):c.449A>G (p.Tyr150Cys)
|
rs371706852
|
0.00002
|
NM_058179.4(PSAT1):c.740+3A>G
|
rs1203560717
|
0.00002
|
NM_058179.4(PSAT1):c.94T>C (p.Tyr32His)
|
rs373736401
|
0.00002
|
NM_144499.3(GNAT1):c.107G>A (p.Gly36Asp)
|
rs772024349
|
0.00002
|
NM_144596.4(TTC8):c.1042T>C (p.Phe348Leu)
|
rs200086953
|
0.00002
|
NM_144596.4(TTC8):c.1382C>T (p.Ala461Val)
|
rs139195149
|
0.00002
|
NM_144596.4(TTC8):c.43T>C (p.Phe15Leu)
|
rs1379428942
|
0.00002
|
NM_144596.4(TTC8):c.5G>A (p.Ser2Asn)
|
rs199571677
|
0.00002
|
NM_144596.4(TTC8):c.607G>A (p.Glu203Lys)
|
rs1018209116
|
0.00002
|
NM_144596.4(TTC8):c.799-11C>T
|
rs768485587
|
0.00002
|
NM_144596.4(TTC8):c.855A>C (p.Leu285Phe)
|
rs774379732
|
0.00002
|
NM_144596.4(TTC8):c.988G>A (p.Ala330Thr)
|
rs568563702
|
0.00002
|
NM_145199.3(LIPT1):c.539T>C (p.Leu180Ser)
|
rs1487643005
|
0.00002
|
NM_145261.4(DNAJC19):c.129+6A>G
|
rs192629594
|
0.00002
|
NM_145261.4(DNAJC19):c.1A>G (p.Met1Val)
|
rs372756221
|
0.00002
|
NM_145261.4(DNAJC19):c.83A>G (p.His28Arg)
|
rs776130966
|
0.00002
|
NM_152419.3(HGSNAT):c.1070T>C (p.Phe357Ser)
|
rs749415090
|
0.00002
|
NM_152419.3(HGSNAT):c.1128+3G>A
|
rs1401358094
|
0.00002
|
NM_152419.3(HGSNAT):c.1209G>T (p.Trp403Cys)
|
rs764206492
|
0.00002
|
NM_152419.3(HGSNAT):c.1456G>A (p.Gly486Arg)
|
rs773361163
|
0.00002
|
NM_152419.3(HGSNAT):c.1559C>T (p.Ala520Val)
|
rs374619489
|
0.00002
|
NM_152419.3(HGSNAT):c.1634C>T (p.Thr545Met)
|
rs377050184
|
0.00002
|
NM_152419.3(HGSNAT):c.278C>T (p.Ala93Val)
|
rs372055513
|
0.00002
|
NM_152419.3(HGSNAT):c.636G>T (p.Glu212Asp)
|
rs774990357
|
0.00002
|
NM_152419.3(HGSNAT):c.748G>A (p.Ala250Thr)
|
rs773638310
|
0.00002
|
NM_152443.3(RDH12):c.*155C>T
|
rs886050643
|
0.00002
|
NM_152542.5(PPM1K):c.1057A>G (p.Lys353Glu)
|
rs199904313
|
0.00002
|
NM_153006.3(NAGS):c.*43A>G
|
rs762719000
|
0.00002
|
NM_153006.3(NAGS):c.1139T>A (p.Val380Glu)
|
rs749187900
|
0.00002
|
NM_153006.3(NAGS):c.1446T>A (p.Asn482Lys)
|
rs915618486
|
0.00002
|
NM_153006.3(NAGS):c.1593C>G (p.Asp531Glu)
|
rs748372797
|
0.00002
|
NM_153006.3(NAGS):c.350C>T (p.Pro117Leu)
|
rs767257841
|
0.00002
|
NM_153006.3(NAGS):c.572A>G (p.Glu191Gly)
|
rs778797257
|
0.00002
|
NM_172250.3(MMAA):c.*152A>G
|
rs749564150
|
0.00002
|
NM_172250.3(MMAA):c.*1918G>A
|
rs755382235
|
0.00002
|
NM_172250.3(MMAA):c.347A>G (p.Lys116Arg)
|
rs772082690
|
0.00002
|
NM_172250.3(MMAA):c.746C>T (p.Ser249Leu)
|
rs746853773
|
0.00002
|
NM_172250.3(MMAA):c.904A>T (p.Ile302Leu)
|
rs369128670
|
0.00002
|
NM_177550.5(SLC13A5):c.1127A>G (p.Lys376Arg)
|
rs370020005
|
0.00002
|
NM_177550.5(SLC13A5):c.1330C>T (p.Pro444Ser)
|
rs765709852
|
0.00002
|
NM_177550.5(SLC13A5):c.1420C>T (p.Pro474Ser)
|
rs777285678
|
0.00002
|
NM_177550.5(SLC13A5):c.1447A>G (p.Ile483Val)
|
rs143719876
|
0.00002
|
NM_177550.5(SLC13A5):c.1591A>G (p.Ile531Val)
|
rs753629596
|
0.00002
|
NM_177550.5(SLC13A5):c.1628C>A (p.Ala543Asp)
|
rs202208840
|
0.00002
|
NM_177550.5(SLC13A5):c.1673C>T (p.Pro558Leu)
|
rs769020153
|
0.00002
|
NM_177550.5(SLC13A5):c.227G>A (p.Arg76Lys)
|
rs778196660
|
0.00002
|
NM_177550.5(SLC13A5):c.368G>A (p.Arg123Gln)
|
rs530676026
|
0.00002
|
NM_177550.5(SLC13A5):c.434C>T (p.Thr145Met)
|
rs1202091819
|
0.00002
|
NM_177550.5(SLC13A5):c.446T>C (p.Val149Ala)
|
rs761377416
|
0.00002
|
NM_177550.5(SLC13A5):c.497C>A (p.Thr166Asn)
|
rs758852137
|
0.00002
|
NM_177550.5(SLC13A5):c.802G>A (p.Ala268Thr)
|
rs777184227
|
0.00002
|
NM_177965.4(CFAP418):c.*406A>T
|
rs530747662
|
0.00002
|
NM_177965.4(CFAP418):c.*408G>A
|
rs561848397
|
0.00002
|
NM_177965.4(CFAP418):c.155+12G>A
|
rs371521751
|
0.00002
|
NM_177965.4(CFAP418):c.395G>A (p.Cys132Tyr)
|
rs759733354
|
0.00002
|
NM_177965.4(CFAP418):c.530G>A (p.Arg177Gln)
|
rs748807525
|
0.00002
|
NM_177972.3(TUB):c.1159G>A (p.Val387Met)
|
rs1214536528
|
0.00002
|
NM_177972.3(TUB):c.1210C>T (p.Arg404Cys)
|
rs139170512
|
0.00002
|
NM_178857.6(RP1L1):c.5929G>A (p.Val1977Ile)
|
rs534151176
|
0.00002
|
NM_183050.4(BCKDHB):c.*2018A>G
|
rs1049658494
|
0.00002
|
NM_183050.4(BCKDHB):c.*2245C>G
|
rs537076572
|
0.00002
|
NM_183050.4(BCKDHB):c.*922A>G
|
rs371667903
|
0.00002
|
NM_183050.4(BCKDHB):c.1087T>A (p.Tyr363Asn)
|
rs398124565
|
0.00002
|
NM_183050.4(BCKDHB):c.239C>G (p.Ala80Gly)
|
rs371131253
|
0.00002
|
NM_183050.4(BCKDHB):c.268A>G (p.Thr90Ala)
|
rs894467213
|
0.00002
|
NM_183050.4(BCKDHB):c.449C>T (p.Ala150Val)
|
rs867033248
|
0.00002
|
NM_183050.4(BCKDHB):c.732C>T (p.Tyr244=)
|
rs537988425
|
0.00002
|
NM_183050.4(BCKDHB):c.79C>T (p.Pro27Ser)
|
rs955755199
|
0.00002
|
NM_183050.4(BCKDHB):c.92T>C (p.Leu31Pro)
|
rs763434607
|
0.00002
|
NM_201253.3(CRB1):c.1096A>C (p.Ile366Leu)
|
rs763122264
|
0.00002
|
NM_201253.3(CRB1):c.1171+6G>A
|
rs770160426
|
0.00002
|
NM_201253.3(CRB1):c.1465G>A (p.Glu489Lys)
|
rs1389085632
|
0.00002
|
NM_201253.3(CRB1):c.1520T>C (p.Val507Ala)
|
rs917528638
|
0.00002
|
NM_201253.3(CRB1):c.2010T>C (p.Cys670=)
|
rs201949837
|
0.00002
|
NM_201253.3(CRB1):c.2051G>A (p.Arg684Lys)
|
rs371557082
|
0.00002
|
NM_201253.3(CRB1):c.208A>G (p.Met70Val)
|
rs771462053
|
0.00002
|
NM_201253.3(CRB1):c.2274C>G (p.Ser758Arg)
|
rs1474289008
|
0.00002
|
NM_201253.3(CRB1):c.2752A>T (p.Ser918Cys)
|
rs776426313
|
0.00002
|
NM_201253.3(CRB1):c.2825T>C (p.Val942Ala)
|
rs531305918
|
0.00002
|
NM_201253.3(CRB1):c.2875G>A (p.Gly959Ser)
|
rs557111131
|
0.00002
|
NM_201253.3(CRB1):c.3284G>A (p.Gly1095Glu)
|
rs751213257
|
0.00002
|
NM_201253.3(CRB1):c.3850A>G (p.Met1284Val)
|
rs766592082
|
0.00002
|
NM_201253.3(CRB1):c.3881G>A (p.Cys1294Tyr)
|
rs754575460
|
0.00002
|
NM_201253.3(CRB1):c.404T>A (p.Ile135Asn)
|
rs1316048135
|
0.00002
|
NM_201253.3(CRB1):c.506G>A (p.Gly169Asp)
|
rs150314336
|
0.00002
|
NM_201253.3(CRB1):c.867G>A (p.Thr289=)
|
rs147244321
|
0.00002
|
NM_201548.5(CERKL):c.1204G>A (p.Val402Ile)
|
rs372755116
|
0.00002
|
NM_201548.5(CERKL):c.1315C>T (p.Arg439Trp)
|
rs139300604
|
0.00002
|
NM_201548.5(CERKL):c.1466C>G (p.Thr489Ser)
|
rs768292284
|
0.00002
|
NM_201548.5(CERKL):c.1543C>T (p.His515Tyr)
|
rs781416914
|
0.00002
|
NM_201548.5(CERKL):c.163G>C (p.Gly55Arg)
|
rs549986396
|
0.00002
|
NM_201548.5(CERKL):c.34G>A (p.Ala12Thr)
|
rs376374604
|
0.00002
|
NM_201548.5(CERKL):c.497C>T (p.Pro166Leu)
|
rs1344137236
|
0.00002
|
NM_205861.3(DHDDS):c.*733T>C
|
rs1055171536
|
0.00002
|
NM_205861.3(DHDDS):c.307C>T (p.Arg103Cys)
|
rs762393542
|
0.00002
|
NM_205861.3(DHDDS):c.590C>G (p.Ser197Cys)
|
rs772379835
|
0.00002
|
NM_205861.3(DHDDS):c.916C>T (p.Arg306Trp)
|
rs139109356
|
0.00002
|
NM_205861.3(DHDDS):c.919G>C (p.Glu307Gln)
|
rs762740714
|
0.00002
|
NM_206933.4(USH2A):c.1001G>A (p.Arg334Gln)
|
rs758303489
|
0.00002
|
NM_206933.4(USH2A):c.10517C>T (p.Thr3506Met)
|
rs397517966
|
0.00002
|
NM_206933.4(USH2A):c.10613G>A (p.Arg3538Gln)
|
rs774844491
|
0.00002
|
NM_206933.4(USH2A):c.10633C>T (p.Arg3545Trp)
|
rs145718329
|
0.00002
|
NM_206933.4(USH2A):c.10852G>A (p.Gly3618Ser)
|
rs778158900
|
0.00002
|
NM_206933.4(USH2A):c.11714G>A (p.Arg3905His)
|
rs201709470
|
0.00002
|
NM_206933.4(USH2A):c.12112A>G (p.Thr4038Ala)
|
rs754979740
|
0.00002
|
NM_206933.4(USH2A):c.12128T>G (p.Val4043Gly)
|
rs376528829
|
0.00002
|
NM_206933.4(USH2A):c.12361C>T (p.Arg4121Cys)
|
rs772357461
|
0.00002
|
NM_206933.4(USH2A):c.12451G>C (p.Asp4151His)
|
rs747947192
|
0.00002
|
NM_206933.4(USH2A):c.12724A>G (p.Thr4242Ala)
|
rs140010020
|
0.00002
|
NM_206933.4(USH2A):c.13139C>T (p.Thr4380Ile)
|
rs533179037
|
0.00002
|
NM_206933.4(USH2A):c.13364C>T (p.Thr4455Ile)
|
rs373152283
|
0.00002
|
NM_206933.4(USH2A):c.1510C>A (p.His504Asn)
|
rs533024548
|
0.00002
|
NM_206933.4(USH2A):c.15178T>C (p.Ser5060Pro)
|
rs752377040
|
0.00002
|
NM_206933.4(USH2A):c.15331_15333del (p.Thr5111del)
|
rs766970587
|
0.00002
|
NM_206933.4(USH2A):c.15520-1G>A
|
rs767265734
|
0.00002
|
NM_206933.4(USH2A):c.15547G>A (p.Ala5183Thr)
|
rs267598369
|
0.00002
|
NM_206933.4(USH2A):c.15575A>T (p.Lys5192Met)
|
rs761474352
|
0.00002
|
NM_206933.4(USH2A):c.1582G>A (p.Asp528Asn)
|
rs551424240
|
0.00002
|
NM_206933.4(USH2A):c.1859G>T (p.Cys620Phe)
|
rs758571672
|
0.00002
|
NM_206933.4(USH2A):c.2653C>T (p.His885Tyr)
|
rs746071929
|
0.00002
|
NM_206933.4(USH2A):c.274T>G (p.Ser92Ala)
|
rs192918169
|
0.00002
|
NM_206933.4(USH2A):c.3086G>T (p.Gly1029Val)
|
rs768158580
|
0.00002
|
NM_206933.4(USH2A):c.3316+5G>C
|
rs1442104013
|
0.00002
|
NM_206933.4(USH2A):c.3342C>T (p.Asp1114=)
|
rs755765979
|
0.00002
|
NM_206933.4(USH2A):c.4146G>C (p.Trp1382Cys)
|
rs753908845
|
0.00002
|
NM_206933.4(USH2A):c.4627+850C>T
|
rs906951959
|
0.00002
|
NM_206933.4(USH2A):c.4803A>T (p.Gln1601His)
|
rs761306493
|
0.00002
|
NM_206933.4(USH2A):c.5095C>A (p.Gln1699Lys)
|
rs1351926905
|
0.00002
|
NM_206933.4(USH2A):c.6133C>T (p.His2045Tyr)
|
rs749333215
|
0.00002
|
NM_206933.4(USH2A):c.6448G>T (p.Val2150Phe)
|
rs756234447
|
0.00002
|
NM_206933.4(USH2A):c.6800C>T (p.Pro2267Leu)
|
rs397518027
|
0.00002
|
NM_206933.4(USH2A):c.6815C>T (p.Thr2272Met)
|
rs776972526
|
0.00002
|
NM_206933.4(USH2A):c.6883G>A (p.Gly2295Arg)
|
rs768253909
|
0.00002
|
NM_206933.4(USH2A):c.7099G>A (p.Gly2367Arg)
|
rs375744536
|
0.00002
|
NM_206933.4(USH2A):c.7183C>T (p.Leu2395Phe)
|
rs372950392
|
0.00002
|
NM_206933.4(USH2A):c.7517A>G (p.Tyr2506Cys)
|
rs937606032
|
0.00002
|
NM_206933.4(USH2A):c.7871C>T (p.Pro2624Leu)
|
rs748455430
|
0.00002
|
NM_206933.4(USH2A):c.8222A>G (p.Gln2741Arg)
|
rs374456269
|
0.00002
|
NM_206933.4(USH2A):c.8486T>C (p.Val2829Ala)
|
rs759063087
|
0.00002
|
NM_206933.4(USH2A):c.8741G>A (p.Arg2914Gln)
|
rs760779633
|
0.00002
|
NM_206933.4(USH2A):c.8861A>T (p.Gln2954Leu)
|
rs1467856164
|
0.00002
|
NM_206933.4(USH2A):c.9089T>C (p.Ile3030Thr)
|
rs876658116
|
0.00002
|
NM_206933.4(USH2A):c.9415A>G (p.Ile3139Val)
|
rs750899958
|
0.00002
|
NM_206933.4(USH2A):c.9806G>A (p.Gly3269Asp)
|
rs762076576
|
0.00002
|
NM_206933.4(USH2A):c.9921T>G (p.Cys3307Trp)
|
rs1057519382
|
0.00002
|
NM_212552.3(BOLA3):c.-8G>A
|
rs886056327
|
0.00002
|
NC_000022.11:g.40345462C>T
|
rs925724663
|
0.00001
|
NC_000022.11:g.40345597G>A
|
rs1470349903
|
0.00001
|
NC_000022.11:g.40345624A>C
|
rs1178062153
|
0.00001
|
NC_000022.11:g.40345643T>C
|
rs1018230570
|
0.00001
|
NC_000022.11:g.40345669C>T
|
rs1386791712
|
0.00001
|
NC_000022.11:g.40345705A>T
|
rs968250682
|
0.00001
|
NC_000022.11:g.40345709C>A
|
rs1170425980
|
0.00001
|
NC_000022.11:g.40345764G>A
|
rs2044113487
|
0.00001
|
NC_000022.11:g.40345770A>G
|
rs1410879144
|
0.00001
|
NC_000022.11:g.40345855C>G
|
rs1307229331
|
0.00001
|
NC_000022.11:g.40345885C>G
|
rs868152963
|
0.00001
|
NC_000022.11:g.40345919C>T
|
rs1316024893
|
0.00001
|
NC_000022.11:g.40345927G>A
|
rs1197880670
|
0.00001
|
NC_000022.11:g.40345933T>C
|
rs1273326006
|
0.00001
|
NC_000022.11:g.40345934G>A
|
rs1428135725
|
0.00001
|
NC_000022.11:g.40345997G>A
|
rs376903282
|
0.00001
|
NC_000022.11:g.40346004G>A
|
rs1010283787
|
0.00001
|
NC_000022.11:g.40346022C>A
|
rs1465603644
|
0.00001
|
NC_000022.11:g.40346188G>C
|
rs1399154446
|
0.00001
|
NC_000022.11:g.40346269G>A
|
rs1258655937
|
0.00001
|
NC_000022.11:g.40346305G>A
|
rs1039907516
|
0.00001
|
NC_000022.11:g.40346353G>A
|
rs1273594576
|
0.00001
|
NC_000022.11:g.40346360G>A
|
rs1379918231
|
0.00001
|
NC_000022.11:g.40346377A>C
|
rs749450413
|
0.00001
|
NC_000022.11:g.40346386T>A
|
rs1469357773
|
0.00001
|
NC_000022.11:g.40346400C>A
|
rs376911964
|
0.00001
|
NC_000022.11:g.40346418G>C
|
rs986851841
|
0.00001
|
NC_000022.11:g.40346443C>G
|
rs1325872618
|
0.00001
|
NC_000022.11:g.40346456C>G
|
rs533768359
|
0.00001
|
NC_000022.11:g.40346489C>G
|
rs949660803
|
0.00001
|
NC_000022.11:g.40346493G>A
|
rs558397990
|
0.00001
|
NM_000016.6(ACADM):c.*317C>T
|
rs886046526
|
0.00001
|
NM_000016.6(ACADM):c.-50A>T
|
rs753411141
|
0.00001
|
NM_000016.6(ACADM):c.1019C>T (p.Ala340Val)
|
rs886042054
|
0.00001
|
NM_000016.6(ACADM):c.1090A>G (p.Ile364Val)
|
rs758973773
|
0.00001
|
NM_000016.6(ACADM):c.1115C>A (p.Ala372Asp)
|
rs781424858
|
0.00001
|
NM_000016.6(ACADM):c.1194+3A>G
|
rs369945009
|
0.00001
|
NM_000016.6(ACADM):c.1216A>G (p.Ile406Val)
|
rs1181589709
|
0.00001
|
NM_000016.6(ACADM):c.1257C>A (p.Tyr419Ter)
|
rs753928772
|
0.00001
|
NM_000016.6(ACADM):c.125C>T (p.Thr42Ile)
|
rs759997176
|
0.00001
|
NM_000016.6(ACADM):c.206A>T (p.Lys69Ile)
|
rs927784210
|
0.00001
|
NM_000016.6(ACADM):c.271_273del (p.Ile91del)
|
rs1463718964
|
0.00001
|
NM_000016.6(ACADM):c.277G>A (p.Glu93Lys)
|
rs752612962
|
0.00001
|
NM_000016.6(ACADM):c.296G>T (p.Gly99Val)
|
rs370608001
|
0.00001
|
NM_000016.6(ACADM):c.395C>G (p.Pro132Arg)
|
rs875989854
|
0.00001
|
NM_000016.6(ACADM):c.447G>T (p.Met149Ile)
|
rs121434277
|
0.00001
|
NM_000016.6(ACADM):c.503A>C (p.Asp168Ala)
|
rs745844469
|
0.00001
|
NM_000016.6(ACADM):c.554T>G (p.Ile185Ser)
|
rs1647480996
|
0.00001
|
NM_000016.6(ACADM):c.56A>G (p.His19Arg)
|
rs1446893994
|
0.00001
|
NM_000016.6(ACADM):c.581A>G (p.Asn194Ser)
|
rs1010454733
|
0.00001
|
NM_000016.6(ACADM):c.599+5G>A
|
rs875989861
|
0.00001
|
NM_000016.6(ACADM):c.661G>A (p.Gly221Arg)
|
rs753627680
|
0.00001
|
NM_000016.6(ACADM):c.667A>G (p.Ile223Val)
|
rs747783631
|
0.00001
|
NM_000016.6(ACADM):c.728G>A (p.Arg243Gln)
|
rs373852490
|
0.00001
|
NM_000016.6(ACADM):c.92G>A (p.Arg31His)
|
rs529894272
|
0.00001
|
NM_000017.4(ACADS):c.*178C>T
|
rs1309551400
|
0.00001
|
NM_000017.4(ACADS):c.1011C>G (p.Asn337Lys)
|
rs200346345
|
0.00001
|
NM_000017.4(ACADS):c.1078A>G (p.Ser360Gly)
|
rs528266975
|
0.00001
|
NM_000017.4(ACADS):c.107dup (p.Thr37fs)
|
rs750941135
|
0.00001
|
NM_000017.4(ACADS):c.1112G>T (p.Gly371Val)
|
rs796051905
|
0.00001
|
NM_000017.4(ACADS):c.1117G>A (p.Val373Met)
|
rs371934737
|
0.00001
|
NM_000017.4(ACADS):c.1130C>T (p.Pro377Leu)
|
rs183161718
|
0.00001
|
NM_000017.4(ACADS):c.1135G>C (p.Glu379Gln)
|
rs953436518
|
0.00001
|
NM_000017.4(ACADS):c.1148G>A (p.Arg383His)
|
rs35233375
|
0.00001
|
NM_000017.4(ACADS):c.1169T>A (p.Ile390Asn)
|
rs773646063
|
0.00001
|
NM_000017.4(ACADS):c.1207G>A (p.Ala403Thr)
|
rs556890619
|
0.00001
|
NM_000017.4(ACADS):c.1209C>T (p.Ala403=)
|
rs377069922
|
0.00001
|
NM_000017.4(ACADS):c.1A>G (p.Met1Val)
|
rs1291226969
|
0.00001
|
NM_000017.4(ACADS):c.242C>T (p.Ala81Val)
|
rs1883464095
|
0.00001
|
NM_000017.4(ACADS):c.268G>A (p.Gly90Ser)
|
rs121908005
|
0.00001
|
NM_000017.4(ACADS):c.304A>G (p.Met102Val)
|
rs766216232
|
0.00001
|
NM_000017.4(ACADS):c.322G>A (p.Gly108Ser)
|
rs117356004
|
0.00001
|
NM_000017.4(ACADS):c.326_328del (p.Cys109_Ala110delinsSer)
|
rs1346829948
|
0.00001
|
NM_000017.4(ACADS):c.332C>T (p.Ser111Phe)
|
rs747339462
|
0.00001
|
NM_000017.4(ACADS):c.336C>T (p.Thr112=)
|
rs768784437
|
0.00001
|
NM_000017.4(ACADS):c.337G>A (p.Gly113Arg)
|
rs781528570
|
0.00001
|
NM_000017.4(ACADS):c.422C>T (p.Thr141Met)
|
rs767874760
|
0.00001
|
NM_000017.4(ACADS):c.425C>G (p.Pro142Arg)
|
rs148297461
|
0.00001
|
NM_000017.4(ACADS):c.449G>T (p.Gly150Val)
|
rs1057524803
|
0.00001
|
NM_000017.4(ACADS):c.460C>T (p.Leu154Phe)
|
rs368500899
|
0.00001
|
NM_000017.4(ACADS):c.466G>A (p.Glu156Lys)
|
rs1883492972
|
0.00001
|
NM_000017.4(ACADS):c.473-9T>G
|
rs751507296
|
0.00001
|
NM_000017.4(ACADS):c.481A>G (p.Ser161Gly)
|
rs755856935
|
0.00001
|
NM_000017.4(ACADS):c.578C>T (p.Ser193Leu)
|
rs369167716
|
0.00001
|
NM_000017.4(ACADS):c.602C>T (p.Thr201Met)
|
rs151059234
|
0.00001
|
NM_000017.4(ACADS):c.65G>T (p.Trp22Leu)
|
rs774970155
|
0.00001
|
NM_000017.4(ACADS):c.673G>C (p.Gly225Arg)
|
rs1181743442
|
0.00001
|
NM_000017.4(ACADS):c.682G>A (p.Glu228Lys)
|
rs755247580
|
0.00001
|
NM_000017.4(ACADS):c.68G>A (p.Arg23Gln)
|
rs773600043
|
0.00001
|
NM_000017.4(ACADS):c.703G>C (p.Gly235Arg)
|
rs770711544
|
0.00001
|
NM_000017.4(ACADS):c.739C>T (p.Arg247Cys)
|
rs760389122
|
0.00001
|
NM_000017.4(ACADS):c.812G>T (p.Gly271Val)
|
rs796051902
|
0.00001
|
NM_000017.4(ACADS):c.820G>A (p.Gly274Ser)
|
rs746368198
|
0.00001
|
NM_000017.4(ACADS):c.821G>A (p.Gly274Asp)
|
rs772531600
|
0.00001
|
NM_000017.4(ACADS):c.842G>C (p.Gly281Ala)
|
rs762083095
|
0.00001
|
NM_000017.4(ACADS):c.889C>T (p.Arg297Cys)
|
rs747512252
|
0.00001
|
NM_000017.4(ACADS):c.906G>A (p.Ala302=)
|
rs763162492
|
0.00001
|
NM_000017.4(ACADS):c.958G>T (p.Ala320Ser)
|
rs777939247
|
0.00001
|
NM_000017.4(ACADS):c.981_983del (p.Thr328del)
|
rs1347248007
|
0.00001
|
NM_000018.4(ACADVL):c.*32T>G
|
rs886053376
|
0.00001
|
NM_000018.4(ACADVL):c.1001T>G (p.Met334Arg)
|
rs398123079
|
0.00001
|
NM_000018.4(ACADVL):c.100G>A (p.Gly34Ser)
|
rs781061205
|
0.00001
|
NM_000018.4(ACADVL):c.1013A>G (p.Asn338Ser)
|
rs956279629
|
0.00001
|
NM_000018.4(ACADVL):c.1037C>T (p.Ala346Val)
|
rs1303150138
|
0.00001
|
NM_000018.4(ACADVL):c.1040C>T (p.Ala347Val)
|
rs2071295317
|
0.00001
|
NM_000018.4(ACADVL):c.1045G>A (p.Ala349Thr)
|
rs1567565733
|
0.00001
|
NM_000018.4(ACADVL):c.1052C>A (p.Thr351Asn)
|
rs796051911
|
0.00001
|
NM_000018.4(ACADVL):c.1063A>G (p.Ile355Val)
|
rs2071297089
|
0.00001
|
NM_000018.4(ACADVL):c.1064T>C (p.Ile355Thr)
|
rs1351976589
|
0.00001
|
NM_000018.4(ACADVL):c.1067T>C (p.Ile356Thr)
|
rs2071297392
|
0.00001
|
NM_000018.4(ACADVL):c.1079T>C (p.Val360Ala)
|
rs1284063777
|
0.00001
|
NM_000018.4(ACADVL):c.1127T>C (p.Phe376Ser)
|
rs758928307
|
0.00001
|
NM_000018.4(ACADVL):c.1133T>C (p.Leu378Pro)
|
rs2071314177
|
0.00001
|
NM_000018.4(ACADVL):c.1146G>C (p.Lys382Asn)
|
rs1057523504
|
0.00001
|
NM_000018.4(ACADVL):c.1159G>A (p.Val387Ile)
|
rs1422904205
|
0.00001
|
NM_000018.4(ACADVL):c.1182+3G>T
|
rs376281637
|
0.00001
|
NM_000018.4(ACADVL):c.1183-15A>G
|
rs765390290
|
0.00001
|
NM_000018.4(ACADVL):c.1198G>A (p.Val400Met)
|
rs149116708
|
0.00001
|
NM_000018.4(ACADVL):c.1217A>C (p.Gln406Pro)
|
rs1384021857
|
0.00001
|
NM_000018.4(ACADVL):c.1269G>A (p.Ser423=)
|
rs765356942
|
0.00001
|
NM_000018.4(ACADVL):c.130G>A (p.Ala44Thr)
|
rs573810960
|
0.00001
|
NM_000018.4(ACADVL):c.1333-13G>A
|
rs774376862
|
0.00001
|
NM_000018.4(ACADVL):c.1345G>C (p.Glu449Gln)
|
rs398123081
|
0.00001
|
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His)
|
rs118204016
|
0.00001
|
NM_000018.4(ACADVL):c.134C>T (p.Ala45Val)
|
rs2071124062
|
0.00001
|
NM_000018.4(ACADVL):c.1360G>A (p.Asp454Asn)
|
rs1419606204
|
0.00001
|
NM_000018.4(ACADVL):c.1388G>A (p.Gly463Glu)
|
rs200366828
|
0.00001
|
NM_000018.4(ACADVL):c.1399A>G (p.Ile467Val)
|
rs755685700
|
0.00001
|
NM_000018.4(ACADVL):c.1524G>C (p.Gln508His)
|
rs749332311
|
0.00001
|
NM_000018.4(ACADVL):c.1533-3C>A
|
rs1486836969
|
0.00001
|
NM_000018.4(ACADVL):c.1534C>T (p.Arg512Trp)
|
rs371316167
|
0.00001
|
NM_000018.4(ACADVL):c.1535G>A (p.Arg512Gln)
|
rs1363658463
|
0.00001
|
NM_000018.4(ACADVL):c.1540G>A (p.Gly514Arg)
|
rs370282954
|
0.00001
|
NM_000018.4(ACADVL):c.1552G>A (p.Gly518Ser)
|
rs374507980
|
0.00001
|
NM_000018.4(ACADVL):c.1575C>A (p.Val525=)
|
rs745996278
|
0.00001
|
NM_000018.4(ACADVL):c.1595G>A (p.Ser532Asn)
|
rs1453818885
|
0.00001
|
NM_000018.4(ACADVL):c.1599C>T (p.Gly533=)
|
rs779770406
|
0.00001
|
NM_000018.4(ACADVL):c.1605+3A>G
|
rs759274087
|
0.00001
|
NM_000018.4(ACADVL):c.1612C>T (p.Arg538Trp)
|
rs192904909
|
0.00001
|
NM_000018.4(ACADVL):c.1621G>A (p.Glu541Lys)
|
rs1350421513
|
0.00001
|
NM_000018.4(ACADVL):c.1664A>G (p.Lys555Arg)
|
rs1231882461
|
0.00001
|
NM_000018.4(ACADVL):c.1670G>A (p.Gly557Glu)
|
rs773842959
|
0.00001
|
NM_000018.4(ACADVL):c.1678+4A>T
|
rs1057518417
|
0.00001
|
NM_000018.4(ACADVL):c.1684C>G (p.Gln562Glu)
|
rs370292684
|
0.00001
|
NM_000018.4(ACADVL):c.1748C>T (p.Ser583Leu)
|
rs1085307648
|
0.00001
|
NM_000018.4(ACADVL):c.179T>G (p.Leu60Arg)
|
rs1405660468
|
0.00001
|
NM_000018.4(ACADVL):c.1807dup (p.Cys603fs)
|
rs1555529088
|
0.00001
|
NM_000018.4(ACADVL):c.1820G>A (p.Cys607Tyr)
|
rs200117742
|
0.00001
|
NM_000018.4(ACADVL):c.1825G>A (p.Glu609Lys)
|
rs398123086
|
0.00001
|
NM_000018.4(ACADVL):c.1827+10G>A
|
rs766755156
|
0.00001
|
NM_000018.4(ACADVL):c.1829C>T (p.Ala610Val)
|
rs1179668719
|
0.00001
|
NM_000018.4(ACADVL):c.1913C>T (p.Ser638Phe)
|
rs1210477732
|
0.00001
|
NM_000018.4(ACADVL):c.1929G>C (p.Glu643Asp)
|
rs1208010882
|
0.00001
|
NM_000018.4(ACADVL):c.1964T>A (p.Phe655Tyr)
|
rs377659973
|
0.00001
|
NM_000018.4(ACADVL):c.201G>A (p.Lys67=)
|
rs753577095
|
0.00001
|
NM_000018.4(ACADVL):c.204+4G>C
|
rs764767909
|
0.00001
|
NM_000018.4(ACADVL):c.216C>T (p.Ser72=)
|
rs761492981
|
0.00001
|
NM_000018.4(ACADVL):c.227G>A (p.Gly76Glu)
|
rs750043368
|
0.00001
|
NM_000018.4(ACADVL):c.278-8C>T
|
rs1178133251
|
0.00001
|
NM_000018.4(ACADVL):c.301T>C (p.Phe101Leu)
|
rs759197049
|
0.00001
|
NM_000018.4(ACADVL):c.322C>G (p.Pro108Ala)
|
rs886043235
|
0.00001
|
NM_000018.4(ACADVL):c.331C>T (p.Arg111Cys)
|
rs370929055
|
0.00001
|
NM_000018.4(ACADVL):c.332G>A (p.Arg111His)
|
rs958166043
|
0.00001
|
NM_000018.4(ACADVL):c.342+18G>A
|
rs372594520
|
0.00001
|
NM_000018.4(ACADVL):c.34C>T (p.Arg12Trp)
|
rs769290349
|
0.00001
|
NM_000018.4(ACADVL):c.374T>C (p.Leu125Pro)
|
rs1416443472
|
0.00001
|
NM_000018.4(ACADVL):c.381G>A (p.Met127Ile)
|
rs773608087
|
0.00001
|
NM_000018.4(ACADVL):c.385G>A (p.Glu129Lys)
|
rs1402849815
|
0.00001
|
NM_000018.4(ACADVL):c.427G>T (p.Gly143Cys)
|
rs794727773
|
0.00001
|
NM_000018.4(ACADVL):c.428G>A (p.Gly143Asp)
|
rs1458941582
|
0.00001
|
NM_000018.4(ACADVL):c.476A>G (p.Gln159Arg)
|
rs746688190
|
0.00001
|
NM_000018.4(ACADVL):c.484C>T (p.Arg162Cys)
|
rs751423064
|
0.00001
|
NM_000018.4(ACADVL):c.490G>C (p.Val164Leu)
|
rs1240846419
|
0.00001
|
NM_000018.4(ACADVL):c.505A>G (p.Met169Val)
|
rs2071227343
|
0.00001
|
NM_000018.4(ACADVL):c.51C>T (p.Leu17=)
|
rs376733533
|
0.00001
|
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr)
|
rs727503791
|
0.00001
|
NM_000018.4(ACADVL):c.577G>C (p.Gly193Arg)
|
rs763630981
|
0.00001
|
NM_000018.4(ACADVL):c.613C>G (p.Leu205Val)
|
rs747347662
|
0.00001
|
NM_000018.4(ACADVL):c.62+20G>A
|
rs369163211
|
0.00001
|
NM_000018.4(ACADVL):c.62+5G>A
|
rs1299140180
|
0.00001
|
NM_000018.4(ACADVL):c.622G>A (p.Gly208Arg)
|
rs748329498
|
0.00001
|
NM_000018.4(ACADVL):c.628A>C (p.Thr210Pro)
|
rs775400380
|
0.00001
|
NM_000018.4(ACADVL):c.63-18A>G
|
rs1481782237
|
0.00001
|
NM_000018.4(ACADVL):c.661A>G (p.Ser221Gly)
|
rs767063791
|
0.00001
|
NM_000018.4(ACADVL):c.707C>T (p.Pro236Leu)
|
rs1336637427
|
0.00001
|
NM_000018.4(ACADVL):c.715A>G (p.Lys239Glu)
|
rs776331587
|
0.00001
|
NM_000018.4(ACADVL):c.725C>T (p.Thr242Ile)
|
rs769631635
|
0.00001
|
NM_000018.4(ACADVL):c.728T>A (p.Leu243His)
|
rs772999007
|
0.00001
|
NM_000018.4(ACADVL):c.751A>G (p.Ser251Gly)
|
rs749159573
|
0.00001
|
NM_000018.4(ACADVL):c.752+5C>T
|
rs768041919
|
0.00001
|
NM_000018.4(ACADVL):c.782T>C (p.Val261Ala)
|
rs756069599
|
0.00001
|
NM_000018.4(ACADVL):c.823G>A (p.Val275Met)
|
rs761199646
|
0.00001
|
NM_000018.4(ACADVL):c.829G>A (p.Glu277Lys)
|
rs1208459885
|
0.00001
|
NM_000018.4(ACADVL):c.853G>C (p.Glu285Gln)
|
rs202216257
|
0.00001
|
NM_000018.4(ACADVL):c.862T>A (p.Phe288Ile)
|
rs1209359519
|
0.00001
|
NM_000018.4(ACADVL):c.867G>T (p.Gly289=)
|
rs745557512
|
0.00001
|
NM_000018.4(ACADVL):c.878+29G>C
|
rs201502622
|
0.00001
|
NM_000018.4(ACADVL):c.879-16C>A
|
rs780626099
|
0.00001
|
NM_000018.4(ACADVL):c.881G>A (p.Gly294Glu)
|
rs200573371
|
0.00001
|
NM_000018.4(ACADVL):c.899T>G (p.Met300Arg)
|
rs142765230
|
0.00001
|
NM_000018.4(ACADVL):c.907A>G (p.Lys303Glu)
|
rs369149696
|
0.00001
|
NM_000018.4(ACADVL):c.91C>T (p.Pro31Ser)
|
rs1487946294
|
0.00001
|
NM_000018.4(ACADVL):c.950T>C (p.Val317Ala)
|
rs398123095
|
0.00001
|
NM_000018.4(ACADVL):c.95G>A (p.Arg32Gln)
|
rs754806489
|
0.00001
|
NM_000018.4(ACADVL):c.964G>A (p.Val322Met)
|
rs1257648581
|
0.00001
|
NM_000018.4(ACADVL):c.969G>A (p.Leu323=)
|
rs749734276
|
0.00001
|
NM_000018.4(ACADVL):c.994G>A (p.Val332Ile)
|
rs775761275
|
0.00001
|
NM_000019.3(ACAT1):c.*291A>C
|
rs771132416
|
0.00001
|
NM_000019.3(ACAT1):c.*591A>T
|
rs886047604
|
0.00001
|
NM_000019.4(ACAT1):c.1167G>A (p.Met389Ile)
|
rs377295639
|
0.00001
|
NM_000019.4(ACAT1):c.1191T>C (p.His397=)
|
rs1439617035
|
0.00001
|
NM_000019.4(ACAT1):c.1199A>G (p.His400Arg)
|
rs761086326
|
0.00001
|
NM_000019.4(ACAT1):c.1200T>C (p.His400=)
|
rs748749897
|
0.00001
|
NM_000019.4(ACAT1):c.138T>C (p.Ser46=)
|
rs763375578
|
0.00001
|
NM_000019.4(ACAT1):c.155T>C (p.Ile52Thr)
|
rs151080188
|
0.00001
|
NM_000019.4(ACAT1):c.171C>A (p.Gly57=)
|
rs757128075
|
0.00001
|
NM_000019.4(ACAT1):c.210T>G (p.Ile70Met)
|
rs1465674363
|
0.00001
|
NM_000019.4(ACAT1):c.229G>A (p.Glu77Lys)
|
rs772848693
|
0.00001
|
NM_000019.4(ACAT1):c.378T>C (p.Cys126=)
|
rs536301499
|
0.00001
|
NM_000019.4(ACAT1):c.421A>T (p.Met141Leu)
|
rs750876321
|
0.00001
|
NM_000019.4(ACAT1):c.422T>C (p.Met141Thr)
|
rs758930842
|
0.00001
|
NM_000019.4(ACAT1):c.433C>G (p.Gln145Glu)
|
rs120074148
|
0.00001
|
NM_000019.4(ACAT1):c.43C>T (p.Arg15Cys)
|
rs757688736
|
0.00001
|
NM_000019.4(ACAT1):c.489G>T (p.Met163Ile)
|
rs778705529
|
0.00001
|
NM_000019.4(ACAT1):c.532T>C (p.Leu178=)
|
rs370063325
|
0.00001
|
NM_000019.4(ACAT1):c.5C>T (p.Ala2Val)
|
rs915506786
|
0.00001
|
NM_000019.4(ACAT1):c.754G>A (p.Glu252Lys)
|
rs2077588609
|
0.00001
|
NM_000019.4(ACAT1):c.902C>T (p.Ala301Val)
|
rs747860630
|
0.00001
|
NM_000019.4(ACAT1):c.914A>G (p.Asn305Ser)
|
rs562043215
|
0.00001
|
NM_000019.4(ACAT1):c.959T>C (p.Val320Ala)
|
rs1184689716
|
0.00001
|
NM_000026.2(ADSL):c.-64C>A
|
rs576843830
|
0.00001
|
NM_000026.4(ADSL):c.-31C>T
|
rs747293932
|
0.00001
|
NM_000026.4(ADSL):c.-32C>T
|
rs1420977984
|
0.00001
|
NM_000026.4(ADSL):c.-56T>A
|
rs1338979561
|
0.00001
|
NM_000026.4(ADSL):c.1011-3T>C
|
rs1376448837
|
0.00001
|
NM_000026.4(ADSL):c.101A>G (p.Tyr34Cys)
|
rs780994144
|
0.00001
|
NM_000026.4(ADSL):c.1027G>A (p.Glu343Lys)
|
rs774159147
|
0.00001
|
NM_000026.4(ADSL):c.1042G>A (p.Ala348Thr)
|
rs752735865
|
0.00001
|
NM_000026.4(ADSL):c.1088T>C (p.Val363Ala)
|
rs758895348
|
0.00001
|
NM_000026.4(ADSL):c.1093T>C (p.Tyr365His)
|
rs1395622939
|
0.00001
|
NM_000026.4(ADSL):c.1114C>A (p.Arg372Ser)
|
rs778401578
|
0.00001
|
NM_000026.4(ADSL):c.1128G>C (p.Glu376Asp)
|
rs796052247
|
0.00001
|
NM_000026.4(ADSL):c.1138A>G (p.Met380Val)
|
rs368160421
|
0.00001
|
NM_000026.4(ADSL):c.1145C>T (p.Thr382Ile)
|
rs2044914041
|
0.00001
|
NM_000026.4(ADSL):c.1159A>G (p.Met387Val)
|
rs1264910912
|
0.00001
|
NM_000026.4(ADSL):c.1167G>A (p.Met389Ile)
|
rs766782678
|
0.00001
|
NM_000026.4(ADSL):c.1231G>A (p.Ala411Thr)
|
rs1196254689
|
0.00001
|
NM_000026.4(ADSL):c.1235C>T (p.Ser412Phe)
|
rs571597579
|
0.00001
|
NM_000026.4(ADSL):c.1252G>C (p.Gly418Arg)
|
rs372650859
|
0.00001
|
NM_000026.4(ADSL):c.1256G>T (p.Gly419Val)
|
rs886057505
|
0.00001
|
NM_000026.4(ADSL):c.1276C>T (p.Arg426Cys)
|
rs796052248
|
0.00001
|
NM_000026.4(ADSL):c.1288G>A (p.Asp430Asn)
|
rs554254383
|
0.00001
|
NM_000026.4(ADSL):c.1337C>A (p.Pro446His)
|
rs755964863
|
0.00001
|
NM_000026.4(ADSL):c.1339T>C (p.Ser447Pro)
|
rs777821034
|
0.00001
|
NM_000026.4(ADSL):c.1340C>T (p.Ser447Phe)
|
rs749427506
|
0.00001
|
NM_000026.4(ADSL):c.1439C>G (p.Ala480Gly)
|
rs796052250
|
0.00001
|
NM_000026.4(ADSL):c.146C>T (p.Ala49Val)
|
rs752938873
|
0.00001
|
NM_000026.4(ADSL):c.205C>G (p.Leu69Val)
|
rs200169254
|
0.00001
|
NM_000026.4(ADSL):c.258T>G (p.His86Gln)
|
rs1327764464
|
0.00001
|
NM_000026.4(ADSL):c.263T>C (p.Val88Ala)
|
rs149165656
|
0.00001
|
NM_000026.4(ADSL):c.271C>G (p.His91Asp)
|
rs755518176
|
0.00001
|
NM_000026.4(ADSL):c.274G>A (p.Val92Met)
|
rs763852823
|
0.00001
|
NM_000026.4(ADSL):c.357+4G>A
|
rs1230823834
|
0.00001
|
NM_000026.4(ADSL):c.366T>G (p.Ile122Met)
|
rs2044410316
|
0.00001
|
NM_000026.4(ADSL):c.370C>A (p.Leu124Ile)
|
rs2044410415
|
0.00001
|
NM_000026.4(ADSL):c.377A>G (p.Asn126Ser)
|
rs771267221
|
0.00001
|
NM_000026.4(ADSL):c.403-3T>C
|
rs766286760
|
0.00001
|
NM_000026.4(ADSL):c.430G>A (p.Asp144Asn)
|
rs757413931
|
0.00001
|
NM_000026.4(ADSL):c.439A>G (p.Lys147Glu)
|
rs746180694
|
0.00001
|
NM_000026.4(ADSL):c.464T>C (p.Leu155Ser)
|
rs2044467047
|
0.00001
|
NM_000026.4(ADSL):c.46C>T (p.Pro16Ser)
|
rs753065207
|
0.00001
|
NM_000026.4(ADSL):c.475C>T (p.His159Tyr)
|
rs1310213333
|
0.00001
|
NM_000026.4(ADSL):c.47C>T (p.Pro16Leu)
|
rs541051390
|
0.00001
|
NM_000026.4(ADSL):c.482A>G (p.Gln161Arg)
|
rs8192457
|
0.00001
|
NM_000026.4(ADSL):c.563G>A (p.Arg188His)
|
rs761937276
|
0.00001
|
NM_000026.4(ADSL):c.579G>C (p.Leu193=)
|
rs751928831
|
0.00001
|
NM_000026.4(ADSL):c.586C>T (p.Arg196Trp)
|
rs376533106
|
0.00001
|
NM_000026.4(ADSL):c.587G>A (p.Arg196Gln)
|
rs753245184
|
0.00001
|
NM_000026.4(ADSL):c.611C>T (p.Thr204Ile)
|
rs745524617
|
0.00001
|
NM_000026.4(ADSL):c.632T>A (p.Leu211His)
|
rs2044669605
|
0.00001
|
NM_000026.4(ADSL):c.793-5C>A
|
rs377164829
|
0.00001
|
NM_000026.4(ADSL):c.805A>G (p.Ile269Val)
|
rs759104126
|
0.00001
|
NM_000026.4(ADSL):c.808C>T (p.Arg270Cys)
|
rs181252862
|
0.00001
|
NM_000026.4(ADSL):c.809G>A (p.Arg270His)
|
rs760189192
|
0.00001
|
NM_000026.4(ADSL):c.842C>G (p.Pro281Arg)
|
rs371529148
|
0.00001
|
NM_000026.4(ADSL):c.853C>G (p.Gln285Glu)
|
rs796052246
|
0.00001
|
NM_000026.4(ADSL):c.854A>G (p.Gln285Arg)
|
rs2044779637
|
0.00001
|
NM_000026.4(ADSL):c.863G>C (p.Gly288Ala)
|
rs776328750
|
0.00001
|
NM_000026.4(ADSL):c.899G>A (p.Arg300His)
|
rs864309550
|
0.00001
|
NM_000026.4(ADSL):c.926G>A (p.Arg309His)
|
rs749817666
|
0.00001
|
NM_000026.4(ADSL):c.986G>A (p.Arg329His)
|
rs768203123
|
0.00001
|
NM_000045.4(ARG1):c.187C>G (p.Pro63Ala)
|
rs756825623
|
0.00001
|
NM_000045.4(ARG1):c.212G>C (p.Arg71Thr)
|
rs757959356
|
0.00001
|
NM_000045.4(ARG1):c.230G>A (p.Ser77Asn)
|
rs1296916689
|
0.00001
|
NM_000045.4(ARG1):c.266A>C (p.Lys89Thr)
|
rs759832639
|
0.00001
|
NM_000045.4(ARG1):c.292G>A (p.Gly98Ser)
|
rs1251633225
|
0.00001
|
NM_000045.4(ARG1):c.295G>A (p.Gly99Arg)
|
rs753829097
|
0.00001
|
NM_000045.4(ARG1):c.305+7T>C
|
rs886061060
|
0.00001
|
NM_000045.4(ARG1):c.308T>C (p.Leu103Ser)
|
rs761773853
|
0.00001
|
NM_000045.4(ARG1):c.322A>G (p.Ile108Val)
|
rs1773905930
|
0.00001
|
NM_000045.4(ARG1):c.368T>G (p.Val123Gly)
|
rs913575060
|
0.00001
|
NM_000045.4(ARG1):c.413G>T (p.Gly138Val)
|
rs104893943
|
0.00001
|
NM_000045.4(ARG1):c.425G>A (p.Gly142Glu)
|
rs767219084
|
0.00001
|
NM_000045.4(ARG1):c.560+5G>A
|
rs763312659
|
0.00001
|
NM_000045.4(ARG1):c.56A>T (p.Gln19Leu)
|
rs761148101
|
0.00001
|
NM_000045.4(ARG1):c.640G>A (p.Glu214Lys)
|
rs200496725
|
0.00001
|
NM_000045.4(ARG1):c.665+6A>G
|
rs1413302131
|
0.00001
|
NM_000045.4(ARG1):c.739C>T (p.Pro247Ser)
|
rs981570531
|
0.00001
|
NM_000045.4(ARG1):c.758C>T (p.Thr253Ile)
|
rs748924712
|
0.00001
|
NM_000045.4(ARG1):c.769G>A (p.Gly257Ser)
|
rs372489226
|
0.00001
|
NM_000045.4(ARG1):c.76G>A (p.Glu26Lys)
|
rs998513101
|
0.00001
|
NM_000045.4(ARG1):c.882C>A (p.Asn294Lys)
|
rs756944730
|
0.00001
|
NM_000045.4(ARG1):c.913G>C (p.Gly305Arg)
|
rs866970619
|
0.00001
|
NM_000045.4(ARG1):c.926A>G (p.Glu309Gly)
|
rs775225648
|
0.00001
|
NM_000045.4(ARG1):c.928G>T (p.Gly310Cys)
|
rs760628925
|
0.00001
|
NM_000048.4(ASL):c.*93C>T
|
rs1362861443
|
0.00001
|
NM_000048.4(ASL):c.1020T>G (p.Ser340Arg)
|
rs771476376
|
0.00001
|
NM_000048.4(ASL):c.1026G>C (p.Val342=)
|
rs768461888
|
0.00001
|
NM_000048.4(ASL):c.1124A>G (p.Tyr375Cys)
|
rs886062406
|
0.00001
|
NM_000048.4(ASL):c.1136G>A (p.Arg379His)
|
rs200853731
|
0.00001
|
NM_000048.4(ASL):c.1154G>A (p.Arg385His)
|
rs746120802
|
0.00001
|
NM_000048.4(ASL):c.1204G>T (p.Gly402Trp)
|
rs727503812
|
0.00001
|
NM_000048.4(ASL):c.1210G>A (p.Ala404Thr)
|
rs757216794
|
0.00001
|
NM_000048.4(ASL):c.1230G>C (p.Leu410=)
|
rs1397223617
|
0.00001
|
NM_000048.4(ASL):c.1285G>T (p.Asp429Tyr)
|
rs1415535789
|
0.00001
|
NM_000048.4(ASL):c.133T>A (p.Tyr45Asn)
|
rs771012029
|
0.00001
|
NM_000048.4(ASL):c.281G>A (p.Arg94His)
|
rs777437569
|
0.00001
|
NM_000048.4(ASL):c.332G>A (p.Arg111Gln)
|
rs561367199
|
0.00001
|
NM_000048.4(ASL):c.377G>A (p.Arg126Gln)
|
rs777235530
|
0.00001
|
NM_000048.4(ASL):c.474C>T (p.Tyr158=)
|
rs1361999742
|
0.00001
|
NM_000048.4(ASL):c.507G>C (p.Trp169Cys)
|
rs759952363
|
0.00001
|
NM_000048.4(ASL):c.584A>G (p.Asn195Ser)
|
rs1409298819
|
0.00001
|
NM_000048.4(ASL):c.613G>A (p.Ala205Thr)
|
rs771531271
|
0.00001
|
NM_000048.4(ASL):c.713T>A (p.Phe238Tyr)
|
rs754283030
|
0.00001
|
NM_000048.4(ASL):c.720C>T (p.Ala240=)
|
rs764072757
|
0.00001
|
NM_000048.4(ASL):c.722A>C (p.Glu241Ala)
|
rs924321091
|
0.00001
|
NM_000048.4(ASL):c.76G>A (p.Ala26Thr)
|
rs775839623
|
0.00001
|
NM_000048.4(ASL):c.772G>A (p.Glu258Lys)
|
rs909358635
|
0.00001
|
NM_000048.4(ASL):c.833+4A>G
|
rs375854730
|
0.00001
|
NM_000048.4(ASL):c.839G>A (p.Gly280Glu)
|
rs1085307952
|
0.00001
|
NM_000048.4(ASL):c.890G>A (p.Arg297Gln)
|
rs750431938
|
0.00001
|
NM_000048.4(ASL):c.91G>A (p.Asp31Asn)
|
rs754995756
|
0.00001
|
NM_000048.4(ASL):c.95G>A (p.Arg32Gln)
|
rs149108910
|
0.00001
|
NM_000048.4(ASL):c.976C>A (p.Gln326Lys)
|
rs398123129
|
0.00001
|
NM_000071.3(CBS):c.1019C>T (p.Ala340Val)
|
rs1282760211
|
0.00001
|
NM_000071.3(CBS):c.1065G>A (p.Ala355=)
|
rs748552493
|
0.00001
|
NM_000071.3(CBS):c.1070C>G (p.Ala357Gly)
|
rs863223437
|
0.00001
|
NM_000071.3(CBS):c.1325G>A (p.Gly442Asp)
|
rs1324151005
|
0.00001
|
NM_000071.3(CBS):c.1353G>C (p.Glu451Asp)
|
rs367962613
|
0.00001
|
NM_000071.3(CBS):c.1397C>T (p.Ser466Leu)
|
rs121964971
|
0.00001
|
NM_000071.3(CBS):c.1478C>T (p.Thr493Met)
|
rs996249907
|
0.00001
|
NM_000071.3(CBS):c.1551G>A (p.Gln517=)
|
rs750311684
|
0.00001
|
NM_000071.3(CBS):c.1600G>A (p.Val534Ile)
|
rs779569366
|
0.00001
|
NM_000071.3(CBS):c.172C>T (p.Arg58Trp)
|
rs555959266
|
0.00001
|
NM_000071.3(CBS):c.210-3C>T
|
rs562656023
|
0.00001
|
NM_000071.3(CBS):c.34C>T (p.Pro12Ser)
|
rs558259739
|
0.00001
|
NM_000071.3(CBS):c.395G>A (p.Arg132His)
|
rs779011920
|
0.00001
|
NM_000071.3(CBS):c.401G>C (p.Gly134Ala)
|
rs766958673
|
0.00001
|
NM_000071.3(CBS):c.422C>T (p.Thr141Met)
|
rs771178320
|
0.00001
|
NM_000071.3(CBS):c.463G>A (p.Ala155Thr)
|
rs1429138569
|
0.00001
|
NM_000071.3(CBS):c.505A>T (p.Met169Leu)
|
rs1371228792
|
0.00001
|
NM_000071.3(CBS):c.548C>T (p.Ala183Val)
|
rs374464810
|
0.00001
|
NM_000071.3(CBS):c.632A>G (p.Lys211Arg)
|
rs201118737
|
0.00001
|
NM_000071.3(CBS):c.676G>C (p.Ala226Pro)
|
rs763835246
|
0.00001
|
NM_000071.3(CBS):c.68C>T (p.Ser23Leu)
|
rs775785018
|
0.00001
|
NM_000071.3(CBS):c.736+4C>T
|
rs756191746
|
0.00001
|
NM_000071.3(CBS):c.736+5G>A
|
rs750518463
|
0.00001
|
NM_000071.3(CBS):c.736+6T>C
|
rs201727754
|
0.00001
|
NM_000071.3(CBS):c.79_81dup (p.Ser27dup)
|
rs754535608
|
0.00001
|
NM_000071.3(CBS):c.829-3C>T
|
rs780624117
|
0.00001
|
NM_000071.3(CBS):c.982G>A (p.Asp328Asn)
|
rs758447354
|
0.00001
|
NM_000108.5(DLD):c.*1401G>T
|
rs1266926415
|
0.00001
|
NM_000108.5(DLD):c.*1724C>G
|
rs886061913
|
0.00001
|
NM_000108.5(DLD):c.*225C>T
|
rs553824101
|
0.00001
|
NM_000108.5(DLD):c.*394A>G
|
rs1246423607
|
0.00001
|
NM_000108.5(DLD):c.116C>T (p.Pro39Leu)
|
rs766396602
|
0.00001
|
NM_000108.5(DLD):c.117G>A (p.Pro39=)
|
rs751621846
|
0.00001
|
NM_000108.5(DLD):c.1228A>C (p.Lys410Gln)
|
rs886061907
|
0.00001
|
NM_000108.5(DLD):c.1266A>G (p.Pro422=)
|
rs766756785
|
0.00001
|
NM_000108.5(DLD):c.1333A>G (p.Lys445Glu)
|
rs1406495040
|
0.00001
|
NM_000108.5(DLD):c.1372C>G (p.Pro458Ala)
|
rs779723449
|
0.00001
|
NM_000108.5(DLD):c.1500T>C (p.Ala500=)
|
rs773097788
|
0.00001
|
NM_000108.5(DLD):c.199-7G>T
|
rs1358100638
|
0.00001
|
NM_000108.5(DLD):c.209T>C (p.Ile70Thr)
|
rs373761188
|
0.00001
|
NM_000108.5(DLD):c.236C>T (p.Thr79Ile)
|
rs1064795549
|
0.00001
|
NM_000108.5(DLD):c.375G>A (p.Glu125=)
|
rs559057715
|
0.00001
|
NM_000108.5(DLD):c.419A>G (p.His140Arg)
|
rs767210810
|
0.00001
|
NM_000108.5(DLD):c.65A>G (p.His22Arg)
|
rs914629774
|
0.00001
|
NM_000116.5(TAFAZZIN):c.210G>C (p.Gln70His)
|
rs977521848
|
0.00001
|
NM_000116.5(TAFAZZIN):c.253C>T (p.Arg85Cys)
|
rs376769286
|
0.00001
|
NM_000116.5(TAFAZZIN):c.403A>G (p.Lys135Glu)
|
rs1557192022
|
0.00001
|
NM_000116.5(TAFAZZIN):c.419C>T (p.Thr140Ile)
|
rs727503454
|
0.00001
|
NM_000116.5(TAFAZZIN):c.430A>G (p.Met144Val)
|
rs2068413364
|
0.00001
|
NM_000116.5(TAFAZZIN):c.460+1G>A
|
rs878853655
|
0.00001
|
NM_000116.5(TAFAZZIN):c.460+5G>A
|
rs1325571965
|
0.00001
|
NM_000116.5(TAFAZZIN):c.535C>G (p.Pro179Ala)
|
rs397515744
|
0.00001
|
NM_000116.5(TAFAZZIN):c.576C>G (p.Phe192Leu)
|
rs1557193924
|
0.00001
|
NM_000116.5(TAFAZZIN):c.593G>A (p.Arg198His)
|
rs371236390
|
0.00001
|
NM_000116.5(TAFAZZIN):c.689G>A (p.Arg230His)
|
rs782655300
|
0.00001
|
NM_000116.5(TAFAZZIN):c.850C>T (p.Leu284Phe)
|
rs782523340
|
0.00001
|
NM_000126.4(ETFA):c.-40G>A
|
rs1057521597
|
0.00001
|
NM_000126.4(ETFA):c.1001G>T (p.Ter334Leu)
|
rs201424632
|
0.00001
|
NM_000126.4(ETFA):c.173C>G (p.Thr58Ser)
|
rs1166705959
|
0.00001
|
NM_000126.4(ETFA):c.268+3G>A
|
rs1160396237
|
0.00001
|
NM_000126.4(ETFA):c.2T>C (p.Met1Thr)
|
rs727503918
|
0.00001
|
NM_000126.4(ETFA):c.321C>T (p.His107=)
|
rs368550471
|
0.00001
|
NM_000126.4(ETFA):c.392C>T (p.Pro131Leu)
|
rs1323414196
|
0.00001
|
NM_000126.4(ETFA):c.39G>A (p.Ala13=)
|
rs776956043
|
0.00001
|
NM_000126.4(ETFA):c.457G>C (p.Ala153Pro)
|
rs1398343360
|
0.00001
|
NM_000126.4(ETFA):c.506G>A (p.Arg169His)
|
rs375660532
|
0.00001
|
NM_000126.4(ETFA):c.509G>A (p.Gly170Glu)
|
rs780998008
|
0.00001
|
NM_000126.4(ETFA):c.746G>A (p.Arg249His)
|
rs886051488
|
0.00001
|
NM_000126.4(ETFA):c.759T>C (p.Asp253=)
|
rs142970498
|
0.00001
|
NM_000126.4(ETFA):c.78T>C (p.Ala26=)
|
rs773298687
|
0.00001
|
NM_000126.4(ETFA):c.81G>C (p.Glu27Asp)
|
rs772068605
|
0.00001
|
NM_000126.4(ETFA):c.876C>A (p.Asp292Glu)
|
rs778807824
|
0.00001
|
NM_000126.4(ETFA):c.932C>T (p.Ala311Val)
|
rs1263820606
|
0.00001
|
NM_000137.3(FAH):c.*288G>A
|
rs1488863066
|
0.00001
|
NM_000137.4(FAH):c.1039G>A (p.Ala347Thr)
|
rs376563006
|
0.00001
|
NM_000137.4(FAH):c.1078G>A (p.Gly360Ser)
|
rs779705179
|
0.00001
|
NM_000137.4(FAH):c.109G>A (p.Gly37Ser)
|
rs761938144
|
0.00001
|
NM_000137.4(FAH):c.1159G>A (p.Gly387Arg)
|
rs753539920
|
0.00001
|
NM_000137.4(FAH):c.1180+10G>A
|
rs758464032
|
0.00001
|
NM_000137.4(FAH):c.1213T>C (p.Phe405Leu)
|
rs1341466471
|
0.00001
|
NM_000137.4(FAH):c.1214T>A (p.Phe405Tyr)
|
rs1595899559
|
0.00001
|
NM_000137.4(FAH):c.155G>A (p.Gly52Asp)
|
rs780944655
|
0.00001
|
NM_000137.4(FAH):c.291A>C (p.Arg97Ser)
|
rs754226189
|
0.00001
|
NM_000137.4(FAH):c.296A>G (p.Asp99Gly)
|
rs547847694
|
0.00001
|
NM_000137.4(FAH):c.407A>G (p.Asn136Ser)
|
rs768365621
|
0.00001
|
NM_000137.4(FAH):c.437A>G (p.Asn146Ser)
|
rs754012972
|
0.00001
|
NM_000137.4(FAH):c.692T>C (p.Met231Thr)
|
rs772824887
|
0.00001
|
NM_000137.4(FAH):c.787G>A (p.Val263Met)
|
rs1168279912
|
0.00001
|
NM_000137.4(FAH):c.81+2T>A
|
rs772895065
|
0.00001
|
NM_000156.6(GAMT):c.151C>G (p.His51Asp)
|
rs1131691409
|
0.00001
|
NM_000156.6(GAMT):c.152A>T (p.His51Leu)
|
rs1473896815
|
0.00001
|
NM_000156.6(GAMT):c.154G>A (p.Ala52Thr)
|
rs1010921007
|
0.00001
|
NM_000156.6(GAMT):c.179A>G (p.Lys60Arg)
|
rs1228556317
|
0.00001
|
NM_000156.6(GAMT):c.182G>A (p.Gly61Glu)
|
rs77168423
|
0.00001
|
NM_000156.6(GAMT):c.224C>T (p.Ala75Val)
|
rs1441030187
|
0.00001
|
NM_000156.6(GAMT):c.226T>C (p.Ser76Pro)
|
rs1340590108
|
0.00001
|
NM_000156.6(GAMT):c.229A>G (p.Lys77Glu)
|
rs780909879
|
0.00001
|
NM_000156.6(GAMT):c.25A>G (p.Ile9Val)
|
rs1555777381
|
0.00001
|
NM_000156.6(GAMT):c.26T>A (p.Ile9Asn)
|
rs2082633745
|
0.00001
|
NM_000156.6(GAMT):c.282C>T (p.Gly94=)
|
rs771191011
|
0.00001
|
NM_000156.6(GAMT):c.283G>A (p.Val95Ile)
|
rs140778208
|
0.00001
|
NM_000156.6(GAMT):c.293G>A (p.Arg98Gln)
|
rs200052696
|
0.00001
|
NM_000156.6(GAMT):c.317A>C (p.Gln106Pro)
|
rs145817990
|
0.00001
|
NM_000156.6(GAMT):c.324C>A (p.His108Gln)
|
rs1289804170
|
0.00001
|
NM_000156.6(GAMT):c.327+5C>T
|
rs1489553949
|
0.00001
|
NM_000156.6(GAMT):c.328-1G>A
|
rs756772965
|
0.00001
|
NM_000156.6(GAMT):c.347T>G (p.Leu116Arg)
|
rs765281181
|
0.00001
|
NM_000156.6(GAMT):c.354G>C (p.Glu118Asp)
|
rs1180941527
|
0.00001
|
NM_000156.6(GAMT):c.367A>G (p.Thr123Ala)
|
rs771827261
|
0.00001
|
NM_000156.6(GAMT):c.372G>A (p.Leu124=)
|
rs748762855
|
0.00001
|
NM_000156.6(GAMT):c.38G>C (p.Gly13Ala)
|
rs1600160699
|
0.00001
|
NM_000156.6(GAMT):c.391+15G>T
|
rs367567416
|
0.00001
|
NM_000156.6(GAMT):c.391+3G>A
|
rs1339573774
|
0.00001
|
NM_000156.6(GAMT):c.410A>C (p.Tyr137Ser)
|
rs1131691930
|
0.00001
|
NM_000156.6(GAMT):c.428C>T (p.Thr143Ile)
|
rs746251691
|
0.00001
|
NM_000156.6(GAMT):c.438A>G (p.Thr146=)
|
rs80338733
|
0.00001
|
NM_000156.6(GAMT):c.464A>T (p.His155Leu)
|
rs1308730662
|
0.00001
|
NM_000156.6(GAMT):c.470T>G (p.Phe157Cys)
|
rs751570656
|
0.00001
|
NM_000156.6(GAMT):c.473G>A (p.Arg158His)
|
rs750195151
|
0.00001
|
NM_000156.6(GAMT):c.553A>C (p.Ile185Leu)
|
rs757108273
|
0.00001
|
NM_000156.6(GAMT):c.560T>C (p.Ile187Thr)
|
rs1421013354
|
0.00001
|
NM_000156.6(GAMT):c.571-3C>G
|
rs1367661704
|
0.00001
|
NM_000156.6(GAMT):c.583C>G (p.Pro195Ala)
|
rs1285848023
|
0.00001
|
NM_000156.6(GAMT):c.586G>A (p.Ala196Thr)
|
rs1355291180
|
0.00001
|
NM_000156.6(GAMT):c.601G>A (p.Gly201Ser)
|
rs540554423
|
0.00001
|
NM_000156.6(GAMT):c.607C>T (p.Arg203Trp)
|
rs746633494
|
0.00001
|
NM_000156.6(GAMT):c.636G>A (p.Met212Ile)
|
rs769713716
|
0.00001
|
NM_000156.6(GAMT):c.638C>T (p.Ala213Val)
|
rs761535571
|
0.00001
|
NM_000156.6(GAMT):c.649C>G (p.Pro217Ala)
|
rs1192722850
|
0.00001
|
NM_000156.6(GAMT):c.64G>A (p.Ala22Thr)
|
rs886054248
|
0.00001
|
NM_000156.6(GAMT):c.668dup (p.Tyr223Ter)
|
rs781163821
|
0.00001
|
NM_000156.6(GAMT):c.689C>T (p.Thr230Met)
|
rs776537906
|
0.00001
|
NM_000156.6(GAMT):c.701C>T (p.Thr234Ile)
|
rs1401966018
|
0.00001
|
NM_000159.4(GCDH):c.*201A>C
|
rs1356787323
|
0.00001
|
NM_000159.4(GCDH):c.1015A>G (p.Met339Val)
|
rs752234195
|
0.00001
|
NM_000159.4(GCDH):c.1082+8C>T
|
rs199627852
|
0.00001
|
NM_000159.4(GCDH):c.1088C>T (p.Ala363Val)
|
rs1278213620
|
0.00001
|
NM_000159.4(GCDH):c.1189G>A (p.Glu397Lys)
|
rs1555751336
|
0.00001
|
NM_000159.4(GCDH):c.1286C>T (p.Thr429Met)
|
rs745360675
|
0.00001
|
NM_000159.4(GCDH):c.242C>G (p.Pro81Arg)
|
rs780408127
|
0.00001
|
NM_000159.4(GCDH):c.300G>A (p.Met100Ile)
|
rs759838598
|
0.00001
|
NM_000159.4(GCDH):c.325A>G (p.Thr109Ala)
|
rs1419527696
|
0.00001
|
NM_000159.4(GCDH):c.365C>T (p.Ala122Val)
|
rs766325846
|
0.00001
|
NM_000159.4(GCDH):c.366C>G (p.Ala122=)
|
rs751364711
|
0.00001
|
NM_000159.4(GCDH):c.368A>G (p.Tyr123Cys)
|
rs780976048
|
0.00001
|
NM_000159.4(GCDH):c.416C>T (p.Ser139Leu)
|
rs139851890
|
0.00001
|
NM_000159.4(GCDH):c.419C>T (p.Ala140Val)
|
rs762052524
|
0.00001
|
NM_000159.4(GCDH):c.460G>A (p.Ala154Thr)
|
rs759415410
|
0.00001
|
NM_000159.4(GCDH):c.479A>G (p.Gln160Arg)
|
rs1176799813
|
0.00001
|
NM_000159.4(GCDH):c.647C>T (p.Ser216Leu)
|
rs1449724176
|
0.00001
|
NM_000159.4(GCDH):c.722G>A (p.Gly241Glu)
|
rs769520999
|
0.00001
|
NM_000159.4(GCDH):c.826G>T (p.Val276Leu)
|
rs763300541
|
0.00001
|
NM_000159.4(GCDH):c.832C>T (p.Pro278Ser)
|
rs751742575
|
0.00001
|
NM_000159.4(GCDH):c.852+5G>A
|
rs886054243
|
0.00001
|
NM_000159.4(GCDH):c.862G>A (p.Gly288Ser)
|
rs774157793
|
0.00001
|
NM_000159.4(GCDH):c.873C>A (p.Asn291Lys)
|
rs1328059662
|
0.00001
|
NM_000159.4(GCDH):c.910G>A (p.Ala304Thr)
|
rs373203481
|
0.00001
|
NM_000161.3(GCH1):c.*1042A>G
|
rs549379993
|
0.00001
|
NM_000161.3(GCH1):c.*1855A>G
|
rs1357329918
|
0.00001
|
NM_000161.3(GCH1):c.*617A>G
|
rs886050546
|
0.00001
|
NM_000161.3(GCH1):c.*641G>A
|
rs1350159556
|
0.00001
|
NM_000161.3(GCH1):c.-5G>C
|
rs886050550
|
0.00001
|
NM_000161.3(GCH1):c.22G>A (p.Ala8Thr)
|
rs529381971
|
0.00001
|
NM_000161.3(GCH1):c.250G>C (p.Glu84Gln)
|
rs755556239
|
0.00001
|
NM_000161.3(GCH1):c.334A>G (p.Thr112Ala)
|
rs199990434
|
0.00001
|
NM_000161.3(GCH1):c.524A>T (p.Tyr175Phe)
|
rs781250171
|
0.00001
|
NM_000161.3(GCH1):c.571G>A (p.Val191Ile)
|
rs762208304
|
0.00001
|
NM_000161.3(GCH1):c.59A>G (p.Asn20Ser)
|
rs2040586742
|
0.00001
|
NM_000161.3(GCH1):c.627-12C>T
|
rs886050549
|
0.00001
|
NM_000170.3(GLDC):c.*496T>G
|
rs999698910
|
0.00001
|
NM_000170.3(GLDC):c.*5C>G
|
rs764814250
|
0.00001
|
NM_000170.3(GLDC):c.1010G>A (p.Arg337Gln)
|
rs138129131
|
0.00001
|
NM_000170.3(GLDC):c.1032G>C (p.Met344Ile)
|
rs752892944
|
0.00001
|
NM_000170.3(GLDC):c.1033C>A (p.Pro345Thr)
|
rs373263202
|
0.00001
|
NM_000170.3(GLDC):c.1078G>C (p.Val360Leu)
|
rs373482451
|
0.00001
|
NM_000170.3(GLDC):c.1114A>G (p.Ile372Val)
|
rs755156031
|
0.00001
|
NM_000170.3(GLDC):c.1117C>T (p.Arg373Trp)
|
rs150171524
|
0.00001
|
NM_000170.3(GLDC):c.11G>A (p.Cys4Tyr)
|
rs1267461962
|
0.00001
|
NM_000170.3(GLDC):c.1210C>T (p.Leu404=)
|
rs781450542
|
0.00001
|
NM_000170.3(GLDC):c.1328G>A (p.Gly443Asp)
|
rs769583276
|
0.00001
|
NM_000170.3(GLDC):c.1333T>C (p.Ser445Pro)
|
rs756770984
|
0.00001
|
NM_000170.3(GLDC):c.1366C>T (p.Arg456Trp)
|
rs773119895
|
0.00001
|
NM_000170.3(GLDC):c.1367G>A (p.Arg456Gln)
|
rs767652664
|
0.00001
|
NM_000170.3(GLDC):c.1381C>T (p.Arg461Trp)
|
rs761957837
|
0.00001
|
NM_000170.3(GLDC):c.1401A>G (p.Thr467=)
|
rs1818402760
|
0.00001
|
NM_000170.3(GLDC):c.1402-14T>G
|
rs376719104
|
0.00001
|
NM_000170.3(GLDC):c.1441C>G (p.Leu481Val)
|
rs764170083
|
0.00001
|
NM_000170.3(GLDC):c.149C>T (p.Ser50Leu)
|
rs778725420
|
0.00001
|
NM_000170.3(GLDC):c.1517G>C (p.Arg506Thr)
|
rs754119942
|
0.00001
|
NM_000170.3(GLDC):c.1525C>G (p.Pro509Ala)
|
rs557412758
|
0.00001
|
NM_000170.3(GLDC):c.1546A>G (p.Thr516Ala)
|
rs1007990230
|
0.00001
|
NM_000170.3(GLDC):c.1567C>G (p.Gln523Glu)
|
rs199711131
|
0.00001
|
NM_000170.3(GLDC):c.1570G>C (p.Val524Leu)
|
rs751362463
|
0.00001
|
NM_000170.3(GLDC):c.1580+4T>G
|
rs752642527
|
0.00001
|
NM_000170.3(GLDC):c.1606C>T (p.Arg536Trp)
|
rs1286882965
|
0.00001
|
NM_000170.3(GLDC):c.163C>G (p.Arg55Gly)
|
rs755680488
|
0.00001
|
NM_000170.3(GLDC):c.1640C>G (p.Ser547Cys)
|
rs1320151906
|
0.00001
|
NM_000170.3(GLDC):c.1659T>G (p.Ile553Met)
|
rs763489615
|
0.00001
|
NM_000170.3(GLDC):c.1664T>G (p.Leu555Arg)
|
rs765384489
|
0.00001
|
NM_000170.3(GLDC):c.1665+7A>T
|
rs759573888
|
0.00001
|
NM_000170.3(GLDC):c.1734C>T (p.Asn578=)
|
rs1034614089
|
0.00001
|
NM_000170.3(GLDC):c.1759C>G (p.Gln587Glu)
|
rs1296797567
|
0.00001
|
NM_000170.3(GLDC):c.1762G>C (p.Ala588Pro)
|
rs780654157
|
0.00001
|
NM_000170.3(GLDC):c.1817C>T (p.Thr606Ile)
|
rs772777667
|
0.00001
|
NM_000170.3(GLDC):c.1830G>A (p.Gln610=)
|
rs765268971
|
0.00001
|
NM_000170.3(GLDC):c.1871C>T (p.Ala624Val)
|
rs779980470
|
0.00001
|
NM_000170.3(GLDC):c.1887C>G (p.Ile629Met)
|
rs1400097268
|
0.00001
|
NM_000170.3(GLDC):c.2013T>A (p.Asp671Glu)
|
rs762425284
|
0.00001
|
NM_000170.3(GLDC):c.2039A>G (p.His680Arg)
|
rs754531832
|
0.00001
|
NM_000170.3(GLDC):c.2053G>T (p.Val685Leu)
|
rs367988640
|
0.00001
|
NM_000170.3(GLDC):c.205G>A (p.Gly69Ser)
|
rs955023601
|
0.00001
|
NM_000170.3(GLDC):c.2114T>A (p.Val705Glu)
|
rs753301368
|
0.00001
|
NM_000170.3(GLDC):c.2145C>T (p.Asp715=)
|
rs769158507
|
0.00001
|
NM_000170.3(GLDC):c.2166A>G (p.Gly722=)
|
rs1323178815
|
0.00001
|
NM_000170.3(GLDC):c.2192T>C (p.Met731Thr)
|
rs763854673
|
0.00001
|
NM_000170.3(GLDC):c.2196T>A (p.Asn732Lys)
|
rs386833544
|
0.00001
|
NM_000170.3(GLDC):c.2202+6A>G
|
rs368418946
|
0.00001
|
NM_000170.3(GLDC):c.230A>G (p.Glu77Gly)
|
rs569728662
|
0.00001
|
NM_000170.3(GLDC):c.2332C>G (p.Pro778Ala)
|
rs1476838990
|
0.00001
|
NM_000170.3(GLDC):c.2368C>T (p.Arg790Trp)
|
rs386833556
|
0.00001
|
NM_000170.3(GLDC):c.2437A>G (p.Ile813Val)
|
rs751624844
|
0.00001
|
NM_000170.3(GLDC):c.255+5G>T
|
rs372569318
|
0.00001
|
NM_000170.3(GLDC):c.2570G>A (p.Gly857Asp)
|
rs1455180063
|
0.00001
|
NM_000170.3(GLDC):c.2600C>T (p.Thr867Met)
|
rs749852046
|
0.00001
|
NM_000170.3(GLDC):c.2684T>C (p.Met895Thr)
|
rs769606225
|
0.00001
|
NM_000170.3(GLDC):c.2742A>T (p.Ala914=)
|
rs374022098
|
0.00001
|
NM_000170.3(GLDC):c.2749G>C (p.Asp917His)
|
rs370297328
|
0.00001
|
NM_000170.3(GLDC):c.2831C>T (p.Pro944Leu)
|
rs374969047
|
0.00001
|
NM_000170.3(GLDC):c.2869T>C (p.Ser957Pro)
|
rs386833571
|
0.00001
|
NM_000170.3(GLDC):c.2903T>C (p.Val968Ala)
|
rs554230348
|
0.00001
|
NM_000170.3(GLDC):c.2925C>T (p.Phe975=)
|
rs1052505781
|
0.00001
|
NM_000170.3(GLDC):c.2936A>C (p.Glu979Ala)
|
rs550514750
|
0.00001
|
NM_000170.3(GLDC):c.2938A>G (p.Asn980Asp)
|
rs772574530
|
0.00001
|
NM_000170.3(GLDC):c.2963G>A (p.Arg988Gln)
|
rs749512886
|
0.00001
|
NM_000170.3(GLDC):c.3048G>C (p.Lys1016Asn)
|
rs1034808665
|
0.00001
|
NM_000170.3(GLDC):c.31C>A (p.Arg11Ser)
|
rs1359478814
|
0.00001
|
NM_000170.3(GLDC):c.328C>T (p.Pro110Ser)
|
rs866641732
|
0.00001
|
NM_000170.3(GLDC):c.346A>G (p.Ile116Val)
|
rs1010145706
|
0.00001
|
NM_000170.3(GLDC):c.352G>A (p.Ala118Thr)
|
rs1333702002
|
0.00001
|
NM_000170.3(GLDC):c.374G>A (p.Ser125Asn)
|
rs1311286011
|
0.00001
|
NM_000170.3(GLDC):c.38G>A (p.Gly13Asp)
|
rs1819728208
|
0.00001
|
NM_000170.3(GLDC):c.398A>G (p.Tyr133Cys)
|
rs751373832
|
0.00001
|
NM_000170.3(GLDC):c.437C>T (p.Thr146Met)
|
rs376578742
|
0.00001
|
NM_000170.3(GLDC):c.439_441dup (p.Ile147dup)
|
rs1157234920
|
0.00001
|
NM_000170.3(GLDC):c.446G>A (p.Arg149Gln)
|
rs538431715
|
0.00001
|
NM_000170.3(GLDC):c.528A>C (p.Leu176Phe)
|
rs757566503
|
0.00001
|
NM_000170.3(GLDC):c.544A>G (p.Met182Val)
|
rs541691467
|
0.00001
|
NM_000170.3(GLDC):c.589C>G (p.Leu197Val)
|
rs1461615694
|
0.00001
|
NM_000170.3(GLDC):c.637C>A (p.His213Asn)
|
rs1210682949
|
0.00001
|
NM_000170.3(GLDC):c.646A>G (p.Arg216Gly)
|
rs140411475
|
0.00001
|
NM_000170.3(GLDC):c.662T>C (p.Val221Ala)
|
rs1313892401
|
0.00001
|
NM_000170.3(GLDC):c.668C>G (p.Pro223Arg)
|
rs201049516
|
0.00001
|
NM_000170.3(GLDC):c.67G>A (p.Ala23Thr)
|
rs978322077
|
0.00001
|
NM_000170.3(GLDC):c.701A>G (p.Gln234Arg)
|
rs776639131
|
0.00001
|
NM_000170.3(GLDC):c.799C>G (p.Pro267Ala)
|
rs1554648117
|
0.00001
|
NM_000170.3(GLDC):c.800C>T (p.Pro267Leu)
|
rs138484426
|
0.00001
|
NM_000170.3(GLDC):c.838G>A (p.Val280Met)
|
rs1258949524
|
0.00001
|
NM_000170.3(GLDC):c.868G>A (p.Ala290Thr)
|
rs1436719669
|
0.00001
|
NM_000170.3(GLDC):c.907A>T (p.Arg303Trp)
|
rs753551054
|
0.00001
|
NM_000170.3(GLDC):c.959T>G (p.Phe320Cys)
|
rs773173613
|
0.00001
|
NM_000170.3(GLDC):c.96G>T (p.Pro32=)
|
rs1430526811
|
0.00001
|
NM_000182.5(HADHA):c.*405C>T
|
rs886055859
|
0.00001
|
NM_000182.5(HADHA):c.*437T>A
|
rs779402635
|
0.00001
|
NM_000182.5(HADHA):c.1196G>A (p.Arg399Gln)
|
rs200715496
|
0.00001
|
NM_000182.5(HADHA):c.1325A>T (p.Asp442Val)
|
rs751092349
|
0.00001
|
NM_000182.5(HADHA):c.1621-7T>C
|
rs774272303
|
0.00001
|
NM_000182.5(HADHA):c.1829G>A (p.Arg610Gln)
|
rs373966336
|
0.00001
|
NM_000182.5(HADHA):c.189A>G (p.Thr63=)
|
rs748187062
|
0.00001
|
NM_000182.5(HADHA):c.1939G>C (p.Asp647His)
|
rs1669533378
|
0.00001
|
NM_000182.5(HADHA):c.1958A>G (p.Asp653Gly)
|
rs1214955457
|
0.00001
|
NM_000182.5(HADHA):c.2000T>G (p.Val667Gly)
|
rs1669530550
|
0.00001
|
NM_000182.5(HADHA):c.2037A>G (p.Thr679=)
|
rs1231960929
|
0.00001
|
NM_000182.5(HADHA):c.2107G>A (p.Gly703Arg)
|
rs200438844
|
0.00001
|
NM_000182.5(HADHA):c.2186T>C (p.Ile729Thr)
|
rs143434901
|
0.00001
|
NM_000182.5(HADHA):c.2192A>T (p.Asp731Val)
|
rs775428463
|
0.00001
|
NM_000182.5(HADHA):c.2193C>A (p.Asp731Glu)
|
rs1348209738
|
0.00001
|
NM_000182.5(HADHA):c.2241C>A (p.Cys747Ter)
|
rs768855989
|
0.00001
|
NM_000182.5(HADHA):c.241G>A (p.Ala81Thr)
|
rs1281408938
|
0.00001
|
NM_000182.5(HADHA):c.27C>T (p.Ile9=)
|
rs1453533016
|
0.00001
|
NM_000182.5(HADHA):c.341A>G (p.Gln114Arg)
|
rs145798498
|
0.00001
|
NM_000182.5(HADHA):c.425A>G (p.Asn142Ser)
|
rs200549951
|
0.00001
|
NM_000182.5(HADHA):c.489A>T (p.Lys163Asn)
|
rs1347586924
|
0.00001
|
NM_000182.5(HADHA):c.509G>A (p.Gly170Asp)
|
rs746937892
|
0.00001
|
NM_000182.5(HADHA):c.646_657dup (p.Gly216_Asp219dup)
|
rs1316714458
|
0.00001
|
NM_000182.5(HADHA):c.67+3G>A
|
rs759265828
|
0.00001
|
NM_000182.5(HADHA):c.68-414A>G
|
rs1045384430
|
0.00001
|
NM_000182.5(HADHA):c.869T>C (p.Val290Ala)
|
rs759968341
|
0.00001
|
NM_000182.5(HADHA):c.911T>C (p.Ile304Thr)
|
rs369774960
|
0.00001
|
NM_000182.5(HADHA):c.914T>C (p.Ile305Thr)
|
rs137852774
|
0.00001
|
NM_000182.5(HADHA):c.982G>A (p.Gly328Arg)
|
rs796051970
|
0.00001
|
NM_000187.3(HGD):c.-255G>T
|
rs886057820
|
0.00001
|
NM_000187.4(HGD):c.-13G>C
|
rs775087041
|
0.00001
|
NM_000187.4(HGD):c.-18A>G
|
rs755624842
|
0.00001
|
NM_000187.4(HGD):c.1266C>T (p.Asn422=)
|
rs1417213536
|
0.00001
|
NM_000187.4(HGD):c.307C>A (p.Pro103Thr)
|
rs559502955
|
0.00001
|
NM_000187.4(HGD):c.434+8G>T
|
rs745572601
|
0.00001
|
NM_000187.4(HGD):c.473C>T (p.Pro158Leu)
|
rs375396766
|
0.00001
|
NM_000187.4(HGD):c.710G>A (p.Arg237His)
|
rs866509210
|
0.00001
|
NM_000187.4(HGD):c.923C>G (p.Pro308Arg)
|
rs201529624
|
0.00001
|
NM_000187.4(HGD):c.967G>A (p.Gly323Arg)
|
rs762564483
|
0.00001
|
NM_000188.3(HK1):c.1298G>A (p.Arg433His)
|
rs780707329
|
0.00001
|
NM_000191.3(HMGCL):c.*388G>A
|
rs145874467
|
0.00001
|
NM_000191.3(HMGCL):c.347C>T (p.Ala116Val)
|
rs368145582
|
0.00001
|
NM_000191.3(HMGCL):c.392C>T (p.Ser131Leu)
|
rs1570650181
|
0.00001
|
NM_000191.3(HMGCL):c.497+4A>G
|
rs568718845
|
0.00001
|
NM_000191.3(HMGCL):c.501C>T (p.Tyr167=)
|
rs200189529
|
0.00001
|
NM_000191.3(HMGCL):c.502G>A (p.Val168Ile)
|
rs759288306
|
0.00001
|
NM_000191.3(HMGCL):c.532G>A (p.Gly178Arg)
|
rs747529727
|
0.00001
|
NM_000191.3(HMGCL):c.593A>G (p.Tyr198Cys)
|
rs1303119110
|
0.00001
|
NM_000191.3(HMGCL):c.602C>A (p.Ser201Tyr)
|
rs760106433
|
0.00001
|
NM_000191.3(HMGCL):c.624G>A (p.Val208=)
|
rs747724373
|
0.00001
|
NM_000191.3(HMGCL):c.704A>G (p.His235Arg)
|
rs990313450
|
0.00001
|
NM_000191.3(HMGCL):c.766G>A (p.Val256Met)
|
rs764238653
|
0.00001
|
NM_000191.3(HMGCL):c.787C>A (p.Leu263Ile)
|
rs1025294353
|
0.00001
|
NM_000191.3(HMGCL):c.796T>C (p.Cys266Arg)
|
rs757884073
|
0.00001
|
NM_000191.3(HMGCL):c.800C>G (p.Pro267Arg)
|
rs750347526
|
0.00001
|
NM_000191.3(HMGCL):c.820G>A (p.Gly274Arg)
|
rs1391067821
|
0.00001
|
NM_000191.3(HMGCL):c.858G>A (p.Glu286=)
|
rs376715568
|
0.00001
|
NM_000240.4(MAOA):c.1153G>A (p.Glu385Lys)
|
rs778306070
|
0.00001
|
NM_000240.4(MAOA):c.1223C>T (p.Thr408Met)
|
rs2033963856
|
0.00001
|
NM_000240.4(MAOA):c.260A>G (p.Glu87Gly)
|
rs747229681
|
0.00001
|
NM_000240.4(MAOA):c.325C>T (p.Arg109Trp)
|
rs140295792
|
0.00001
|
NM_000240.4(MAOA):c.331G>A (p.Ala111Thr)
|
rs755919316
|
0.00001
|
NM_000254.3(MTR):c.1074T>C (p.Ser358=)
|
rs1430063160
|
0.00001
|
NM_000254.3(MTR):c.127C>T (p.Arg43Trp)
|
rs757720946
|
0.00001
|
NM_000254.3(MTR):c.1483A>G (p.Met495Val)
|
rs775291294
|
0.00001
|
NM_000254.3(MTR):c.1583G>C (p.Gly528Ala)
|
rs1663831931
|
0.00001
|
NM_000254.3(MTR):c.1651A>G (p.Asn551Asp)
|
rs151031178
|
0.00001
|
NM_000254.3(MTR):c.1657T>C (p.Tyr553His)
|
rs767156705
|
0.00001
|
NM_000254.3(MTR):c.1954-6A>G
|
rs1553321372
|
0.00001
|
NM_000254.3(MTR):c.2032G>T (p.Ala678Ser)
|
rs759130222
|
0.00001
|
NM_000254.3(MTR):c.2294T>C (p.Val765Ala)
|
rs931972359
|
0.00001
|
NM_000254.3(MTR):c.2304+4A>G
|
rs778478523
|
0.00001
|
NM_000254.3(MTR):c.2329C>G (p.Leu777Val)
|
rs758778075
|
0.00001
|
NM_000254.3(MTR):c.2411T>C (p.Ile804Thr)
|
rs147387989
|
0.00001
|
NM_000254.3(MTR):c.2422G>A (p.Val808Ile)
|
rs745749921
|
0.00001
|
NM_000254.3(MTR):c.2594+3A>G
|
rs757969059
|
0.00001
|
NM_000254.3(MTR):c.2708A>G (p.Asp903Gly)
|
rs149165917
|
0.00001
|
NM_000254.3(MTR):c.2891A>G (p.Tyr964Cys)
|
rs1416094227
|
0.00001
|
NM_000254.3(MTR):c.2915A>G (p.Tyr972Cys)
|
rs773190246
|
0.00001
|
NM_000254.3(MTR):c.2966C>T (p.Pro989Leu)
|
rs772400119
|
0.00001
|
NM_000254.3(MTR):c.2999A>G (p.Lys1000Arg)
|
rs755595867
|
0.00001
|
NM_000254.3(MTR):c.3037G>A (p.Ala1013Thr)
|
rs1474412109
|
0.00001
|
NM_000254.3(MTR):c.3142G>A (p.Ala1048Thr)
|
rs756706737
|
0.00001
|
NM_000254.3(MTR):c.3205-196A>G
|
rs544410324
|
0.00001
|
NM_000254.3(MTR):c.325G>A (p.Gly109Ser)
|
rs746836137
|
0.00001
|
NM_000254.3(MTR):c.3281G>A (p.Arg1094His)
|
rs764803333
|
0.00001
|
NM_000254.3(MTR):c.3383C>T (p.Ala1128Val)
|
rs759436870
|
0.00001
|
NM_000254.3(MTR):c.340-3T>C
|
rs772591750
|
0.00001
|
NM_000254.3(MTR):c.3430A>G (p.Arg1144Gly)
|
rs781725496
|
0.00001
|
NM_000254.3(MTR):c.3460G>A (p.Gly1154Ser)
|
rs1188027807
|
0.00001
|
NM_000254.3(MTR):c.3463A>G (p.Ser1155Gly)
|
rs369154176
|
0.00001
|
NM_000254.3(MTR):c.347G>A (p.Arg116Gln)
|
rs1414249194
|
0.00001
|
NM_000254.3(MTR):c.3490C>T (p.Arg1164Cys)
|
rs761657622
|
0.00001
|
NM_000254.3(MTR):c.3704A>G (p.Lys1235Arg)
|
rs779312137
|
0.00001
|
NM_000254.3(MTR):c.443C>T (p.Pro148Leu)
|
rs757429726
|
0.00001
|
NM_000254.3(MTR):c.586A>G (p.Ile196Val)
|
rs776426879
|
0.00001
|
NM_000254.3(MTR):c.712G>A (p.Gly238Arg)
|
rs934470002
|
0.00001
|
NM_000254.3(MTR):c.755A>G (p.Glu252Gly)
|
rs758776466
|
0.00001
|
NM_000255.4(MMUT):c.*103A>G
|
rs886061558
|
0.00001
|
NM_000255.4(MMUT):c.*1319C>T
|
rs541645779
|
0.00001
|
NM_000255.4(MMUT):c.*636T>A
|
rs1262925761
|
0.00001
|
NM_000255.4(MMUT):c.1091A>C (p.Tyr364Ser)
|
rs563776413
|
0.00001
|
NM_000255.4(MMUT):c.1261G>A (p.Val421Met)
|
rs746763824
|
0.00001
|
NM_000255.4(MMUT):c.1400G>A (p.Arg467Gln)
|
rs147737629
|
0.00001
|
NM_000255.4(MMUT):c.1519A>G (p.Asn507Asp)
|
rs769270504
|
0.00001
|
NM_000255.4(MMUT):c.1669C>T (p.Arg557Trp)
|
rs886061559
|
0.00001
|
NM_000255.4(MMUT):c.1828C>T (p.Arg610Cys)
|
rs770978452
|
0.00001
|
NM_000255.4(MMUT):c.1898T>G (p.Val633Gly)
|
rs200055428
|
0.00001
|
NM_000255.4(MMUT):c.1906A>G (p.Thr636Ala)
|
rs569669261
|
0.00001
|
NM_000255.4(MMUT):c.191C>T (p.Pro64Leu)
|
rs575038087
|
0.00001
|
NM_000255.4(MMUT):c.1970T>C (p.Val657Ala)
|
rs1767102899
|
0.00001
|
NM_000255.4(MMUT):c.2206C>T (p.Leu736Phe)
|
rs753461919
|
0.00001
|
NM_000255.4(MMUT):c.235A>G (p.Met79Val)
|
rs751177187
|
0.00001
|
NM_000255.4(MMUT):c.359A>G (p.Asn120Ser)
|
rs776108716
|
0.00001
|
NM_000255.4(MMUT):c.406G>A (p.Val136Ile)
|
rs1767739165
|
0.00001
|
NM_000255.4(MMUT):c.422C>T (p.Ala141Val)
|
rs565348836
|
0.00001
|
NM_000255.4(MMUT):c.499G>A (p.Val167Met)
|
rs755709278
|
0.00001
|
NM_000255.4(MMUT):c.556A>G (p.Met186Val)
|
rs148331800
|
0.00001
|
NM_000255.4(MMUT):c.87G>A (p.Gln29=)
|
rs886061560
|
0.00001
|
NM_000255.4(MMUT):c.890C>T (p.Thr297Ile)
|
rs547709692
|
0.00001
|
NM_000274.4(OAT):c.*189A>G
|
rs886046809
|
0.00001
|
NM_000274.4(OAT):c.*378A>G
|
rs886046807
|
0.00001
|
NM_000274.4(OAT):c.*486A>G
|
rs1377283827
|
0.00001
|
NM_000274.4(OAT):c.-60C>T
|
rs886046812
|
0.00001
|
NM_000274.4(OAT):c.1090C>T (p.Pro364Ser)
|
rs1195438970
|
0.00001
|
NM_000274.4(OAT):c.1135G>A (p.Ala379Thr)
|
rs1408984206
|
0.00001
|
NM_000274.4(OAT):c.1165G>T (p.Asp389Tyr)
|
rs1281980374
|
0.00001
|
NM_000274.4(OAT):c.1166A>G (p.Asp389Gly)
|
rs1414573089
|
0.00001
|
NM_000274.4(OAT):c.1208T>C (p.Leu403Pro)
|
rs141737170
|
0.00001
|
NM_000274.4(OAT):c.1286T>C (p.Ile429Thr)
|
rs774831749
|
0.00001
|
NM_000274.4(OAT):c.149A>G (p.Tyr50Cys)
|
rs936463102
|
0.00001
|
NM_000274.4(OAT):c.162C>A (p.Asn54Lys)
|
rs121965048
|
0.00001
|
NM_000274.4(OAT):c.166C>T (p.His56Tyr)
|
rs1228173312
|
0.00001
|
NM_000274.4(OAT):c.181G>T (p.Ala61Ser)
|
rs369213619
|
0.00001
|
NM_000274.4(OAT):c.211T>C (p.Trp71Arg)
|
rs780235906
|
0.00001
|
NM_000274.4(OAT):c.416T>G (p.Met139Arg)
|
rs1043163922
|
0.00001
|
NM_000274.4(OAT):c.461G>A (p.Arg154His)
|
rs121965039
|
0.00001
|
NM_000274.4(OAT):c.49G>A (p.Gly17Arg)
|
rs760716065
|
0.00001
|
NM_000274.4(OAT):c.58T>A (p.Ser20Thr)
|
rs1046309017
|
0.00001
|
NM_000274.4(OAT):c.606G>A (p.Pro202=)
|
rs369806549
|
0.00001
|
NM_000274.4(OAT):c.633T>G (p.Asp211Glu)
|
rs755162030
|
0.00001
|
NM_000274.4(OAT):c.639C>T (p.Pro213=)
|
rs773314783
|
0.00001
|
NM_000274.4(OAT):c.698A>G (p.Gln233Arg)
|
rs386833615
|
0.00001
|
NM_000274.4(OAT):c.772-4A>G
|
rs777129550
|
0.00001
|
NM_000274.4(OAT):c.823T>A (p.Trp275Arg)
|
rs947658691
|
0.00001
|
NM_000274.4(OAT):c.845A>G (p.Asn282Ser)
|
rs956427344
|
0.00001
|
NM_000274.4(OAT):c.853C>T (p.Pro285Ser)
|
rs1295048098
|
0.00001
|
NM_000274.4(OAT):c.977A>G (p.Asn326Ser)
|
rs371878605
|
0.00001
|
NM_000274.4(OAT):c.997G>A (p.Ala333Thr)
|
rs1322699067
|
0.00001
|
NM_000276.4(OCRL):c.115T>C (p.Tyr39His)
|
rs756670728
|
0.00001
|
NM_000276.4(OCRL):c.1585G>A (p.Ala529Thr)
|
rs1219583539
|
0.00001
|
NM_000276.4(OCRL):c.164T>C (p.Ile55Thr)
|
rs1278754966
|
0.00001
|
NM_000276.4(OCRL):c.1889T>C (p.Val630Ala)
|
rs768629676
|
0.00001
|
NM_000276.4(OCRL):c.2009C>T (p.Thr670Ile)
|
rs1936370341
|
0.00001
|
NM_000276.4(OCRL):c.2115+4A>G
|
rs1326476020
|
0.00001
|
NM_000276.4(OCRL):c.92C>T (p.Thr31Ile)
|
rs762676076
|
0.00001
|
NM_000277.3(PAH):c.*42A>G
|
rs1238562736
|
0.00001
|
NM_000277.3(PAH):c.1066-9G>A
|
rs750730715
|
0.00001
|
NM_000277.3(PAH):c.1101G>A (p.Leu367=)
|
rs62508648
|
0.00001
|
NM_000277.3(PAH):c.1124A>G (p.Gln375Arg)
|
rs1874694173
|
0.00001
|
NM_000277.3(PAH):c.1330C>T (p.Leu444Phe)
|
rs1402168594
|
0.00001
|
NM_000277.3(PAH):c.161T>C (p.Leu54Ser)
|
rs199475677
|
0.00001
|
NM_000277.3(PAH):c.169G>A (p.Glu57Lys)
|
rs140945592
|
0.00001
|
NM_000277.3(PAH):c.176A>T (p.Asp59Val)
|
rs199475672
|
0.00001
|
NM_000277.3(PAH):c.198A>G (p.Glu66=)
|
rs117308669
|
0.00001
|
NM_000277.3(PAH):c.212G>A (p.Arg71His)
|
rs62508695
|
0.00001
|
NM_000277.3(PAH):c.281T>G (p.Ile94Ser)
|
rs62508677
|
0.00001
|
NM_000277.3(PAH):c.307G>T (p.Gly103Cys)
|
rs752792040
|
0.00001
|
NM_000277.3(PAH):c.310_318del (p.Ala104_Val106del)
|
rs398123291
|
0.00001
|
NM_000277.3(PAH):c.441+4A>G
|
rs62508586
|
0.00001
|
NM_000277.3(PAH):c.441T>C (p.Pro147=)
|
rs1386014129
|
0.00001
|
NM_000277.3(PAH):c.442G>A (p.Gly148Ser)
|
rs80297647
|
0.00001
|
NM_000277.3(PAH):c.499A>T (p.Asn167Tyr)
|
rs1210056131
|
0.00001
|
NM_000277.3(PAH):c.511G>A (p.Gly171Arg)
|
rs199475613
|
0.00001
|
NM_000277.3(PAH):c.559T>C (p.Trp187Arg)
|
rs62507272
|
0.00001
|
NM_000277.3(PAH):c.59A>T (p.Gln20Leu)
|
rs199475662
|
0.00001
|
NM_000277.3(PAH):c.63A>C (p.Glu21Asp)
|
rs753466976
|
0.00001
|
NM_000277.3(PAH):c.712A>C (p.Thr238Pro)
|
rs199475577
|
0.00001
|
NM_000277.3(PAH):c.737C>T (p.Ala246Val)
|
rs199475610
|
0.00001
|
NM_000277.3(PAH):c.786C>T (p.Val262=)
|
rs776860902
|
0.00001
|
NM_000277.3(PAH):c.789C>G (p.Phe263Leu)
|
rs62642944
|
0.00001
|
NM_000277.3(PAH):c.793T>C (p.Cys265Arg)
|
rs62517181
|
0.00001
|
NM_000277.3(PAH):c.811C>T (p.His271Tyr)
|
rs62517164
|
0.00001
|
NM_000277.3(PAH):c.828G>A (p.Met276Ile)
|
rs62514954
|
0.00001
|
NM_000277.3(PAH):c.969+6T>A
|
rs62517196
|
0.00001
|
NM_000277.3(PAH):c.970-10T>C
|
rs1485782102
|
0.00001
|
NM_000277.3(PAH):c.970A>G (p.Ile324Val)
|
rs1221031352
|
0.00001
|
NM_000281.4(PCBD1):c.*107C>T
|
rs1846535672
|
0.00001
|
NM_000281.4(PCBD1):c.*116C>T
|
rs544135564
|
0.00001
|
NM_000281.4(PCBD1):c.179T>C (p.Leu60Pro)
|
rs768330993
|
0.00001
|
NM_000281.4(PCBD1):c.294A>G (p.Gln98=)
|
rs773744136
|
0.00001
|
NM_000282.4(PCCA):c.1112A>G (p.Gln371Arg)
|
rs752995083
|
0.00001
|
NM_000282.4(PCCA):c.1123C>T (p.Arg375Cys)
|
rs758588772
|
0.00001
|
NM_000282.4(PCCA):c.1124G>A (p.Arg375His)
|
rs778042583
|
0.00001
|
NM_000282.4(PCCA):c.1217A>G (p.Tyr406Cys)
|
rs981962098
|
0.00001
|
NM_000282.4(PCCA):c.1291G>A (p.Val431Met)
|
rs1464775522
|
0.00001
|
NM_000282.4(PCCA):c.1430G>T (p.Gly477Val)
|
rs776355907
|
0.00001
|
NM_000282.4(PCCA):c.1445T>C (p.Ile482Thr)
|
rs1349455848
|
0.00001
|
NM_000282.4(PCCA):c.1477C>T (p.Arg493Cys)
|
rs753955254
|
0.00001
|
NM_000282.4(PCCA):c.1540+5G>C
|
rs371430625
|
0.00001
|
NM_000282.4(PCCA):c.155G>A (p.Gly52Asp)
|
rs755553674
|
0.00001
|
NM_000282.4(PCCA):c.1593_1595del (p.Leu532del)
|
rs937519016
|
0.00001
|
NM_000282.4(PCCA):c.1615A>G (p.Arg539Gly)
|
rs2071094349
|
0.00001
|
NM_000282.4(PCCA):c.1647G>A (p.Met549Ile)
|
rs759831592
|
0.00001
|
NM_000282.4(PCCA):c.1702A>G (p.Lys568Glu)
|
rs755890592
|
0.00001
|
NM_000282.4(PCCA):c.1746G>A (p.Ser582=)
|
rs192171304
|
0.00001
|
NM_000282.4(PCCA):c.1756G>T (p.Asp586Tyr)
|
rs2079091190
|
0.00001
|
NM_000282.4(PCCA):c.177T>A (p.Asn59Lys)
|
rs778065877
|
0.00001
|
NM_000282.4(PCCA):c.1801C>T (p.Pro601Ser)
|
rs752459931
|
0.00001
|
NM_000282.4(PCCA):c.1808T>C (p.Leu603Ser)
|
rs1427313509
|
0.00001
|
NM_000282.4(PCCA):c.1828A>T (p.Thr610Ser)
|
rs749767976
|
0.00001
|
NM_000282.4(PCCA):c.1879A>G (p.Ile627Val)
|
rs1163083290
|
0.00001
|
NM_000282.4(PCCA):c.1886T>G (p.Phe629Cys)
|
rs1400179119
|
0.00001
|
NM_000282.4(PCCA):c.1891G>A (p.Gly631Ser)
|
rs796052018
|
0.00001
|
NM_000282.4(PCCA):c.1894A>G (p.Thr632Ala)
|
rs376313696
|
0.00001
|
NM_000282.4(PCCA):c.1910A>G (p.Asn637Ser)
|
rs149772960
|
0.00001
|
NM_000282.4(PCCA):c.1968G>T (p.Glu656Asp)
|
rs891469566
|
0.00001
|
NM_000282.4(PCCA):c.1976G>A (p.Ser659Asn)
|
rs764651081
|
0.00001
|
NM_000282.4(PCCA):c.1997T>A (p.Met666Lys)
|
rs999241357
|
0.00001
|
NM_000282.4(PCCA):c.202G>A (p.Val68Ile)
|
rs768750176
|
0.00001
|
NM_000282.4(PCCA):c.2038G>A (p.Ala680Thr)
|
rs201570489
|
0.00001
|
NM_000282.4(PCCA):c.2173G>A (p.Val725Met)
|
rs747593363
|
0.00001
|
NM_000282.4(PCCA):c.223G>C (p.Ala75Pro)
|
rs794727479
|
0.00001
|
NM_000282.4(PCCA):c.230G>A (p.Arg77Gln)
|
rs1387778734
|
0.00001
|
NM_000282.4(PCCA):c.297T>G (p.Ser99Arg)
|
rs1203679401
|
0.00001
|
NM_000282.4(PCCA):c.2dup (p.Met1fs)
|
rs1179536678
|
0.00001
|
NM_000282.4(PCCA):c.376G>A (p.Ala126Thr)
|
rs1482878054
|
0.00001
|
NM_000282.4(PCCA):c.432A>G (p.Gly144=)
|
rs768756825
|
0.00001
|
NM_000282.4(PCCA):c.469G>T (p.Ala157Ser)
|
rs772068496
|
0.00001
|
NM_000282.4(PCCA):c.472G>T (p.Ala158Ser)
|
rs773032396
|
0.00001
|
NM_000282.4(PCCA):c.484G>A (p.Val162Ile)
|
rs1442819667
|
0.00001
|
NM_000282.4(PCCA):c.54G>A (p.Gly18=)
|
rs1373903905
|
0.00001
|
NM_000282.4(PCCA):c.62C>T (p.Pro21Leu)
|
rs1367928921
|
0.00001
|
NM_000282.4(PCCA):c.681A>C (p.Lys227Asn)
|
rs749118295
|
0.00001
|
NM_000282.4(PCCA):c.688C>T (p.Arg230Cys)
|
rs778530330
|
0.00001
|
NM_000282.4(PCCA):c.68A>C (p.Gln23Pro)
|
rs1566436392
|
0.00001
|
NM_000282.4(PCCA):c.704A>G (p.Asp235Gly)
|
rs760244758
|
0.00001
|
NM_000282.4(PCCA):c.709G>A (p.Glu237Lys)
|
rs770371734
|
0.00001
|
NM_000282.4(PCCA):c.762C>T (p.Gly254=)
|
rs758211858
|
0.00001
|
NM_000282.4(PCCA):c.778A>C (p.Ile260Leu)
|
rs769286299
|
0.00001
|
NM_000282.4(PCCA):c.893A>G (p.Lys298Arg)
|
rs1444049793
|
0.00001
|
NM_000282.4(PCCA):c.914+3A>G
|
rs749376990
|
0.00001
|
NM_000282.4(PCCA):c.970G>T (p.Ala324Ser)
|
rs749617899
|
0.00001
|
NM_000283.3(PDE6B):c.*692G>A
|
rs1444528398
|
0.00001
|
NM_000283.4(PDE6B):c.*187G>A
|
rs1014159767
|
0.00001
|
NM_000283.4(PDE6B):c.*215A>G
|
rs1040628827
|
0.00001
|
NM_000283.4(PDE6B):c.*279G>A
|
rs886059548
|
0.00001
|
NM_000283.4(PDE6B):c.*79A>G
|
rs753277194
|
0.00001
|
NM_000283.4(PDE6B):c.109G>A (p.Glu37Lys)
|
rs376908835
|
0.00001
|
NM_000283.4(PDE6B):c.1459G>A (p.Glu487Lys)
|
rs139369984
|
0.00001
|
NM_000283.4(PDE6B):c.1590C>T (p.Val530=)
|
rs202244041
|
0.00001
|
NM_000283.4(PDE6B):c.1667A>G (p.Tyr556Cys)
|
rs755577875
|
0.00001
|
NM_000283.4(PDE6B):c.1811C>T (p.Thr604Ile)
|
rs752738349
|
0.00001
|
NM_000283.4(PDE6B):c.1859A>G (p.His620Arg)
|
rs1737315492
|
0.00001
|
NM_000283.4(PDE6B):c.1895T>C (p.Phe632Ser)
|
rs773420808
|
0.00001
|
NM_000283.4(PDE6B):c.1945A>G (p.Asn649Asp)
|
rs768939011
|
0.00001
|
NM_000283.4(PDE6B):c.1996G>A (p.Ala666Thr)
|
rs779474710
|
0.00001
|
NM_000283.4(PDE6B):c.2091G>A (p.Glu697=)
|
rs886059545
|
0.00001
|
NM_000283.4(PDE6B):c.385G>A (p.Glu129Lys)
|
rs749657417
|
0.00001
|
NM_000283.4(PDE6B):c.409G>A (p.Gly137Arg)
|
rs781658083
|
0.00001
|
NM_000283.4(PDE6B):c.482G>A (p.Ser161Asn)
|
rs574098823
|
0.00001
|
NM_000283.4(PDE6B):c.739T>A (p.Phe247Ile)
|
rs780521818
|
0.00001
|
NM_000283.4(PDE6B):c.932T>C (p.Ile311Thr)
|
rs886059543
|
0.00001
|
NM_000317.3(PTS):c.*213A>G
|
rs916945270
|
0.00001
|
NM_000317.3(PTS):c.106A>G (p.Asn36Asp)
|
rs1374807422
|
0.00001
|
NM_000317.3(PTS):c.155A>G (p.Asn52Ser)
|
rs104894275
|
0.00001
|
NM_000317.3(PTS):c.187A>G (p.Ile63Val)
|
rs778053171
|
0.00001
|
NM_000317.3(PTS):c.211A>G (p.Met71Val)
|
rs1296871450
|
0.00001
|
NM_000317.3(PTS):c.216T>A (p.Asn72Lys)
|
rs200279736
|
0.00001
|
NM_000317.3(PTS):c.228C>T (p.Leu76=)
|
rs772713545
|
0.00001
|
NM_000317.3(PTS):c.22C>T (p.Arg8Cys)
|
rs1859865574
|
0.00001
|
NM_000317.3(PTS):c.289G>A (p.Val97Met)
|
rs750455879
|
0.00001
|
NM_000317.3(PTS):c.292C>T (p.Pro98Ser)
|
rs1859964687
|
0.00001
|
NM_000317.3(PTS):c.347A>G (p.Asp116Gly)
|
rs104894279
|
0.00001
|
NM_000317.3(PTS):c.360A>T (p.Lys120Asn)
|
rs1859970916
|
0.00001
|
NM_000317.3(PTS):c.46C>T (p.Arg16Cys)
|
rs104894274
|
0.00001
|
NM_000317.3(PTS):c.95G>A (p.Ser32Asn)
|
rs374871539
|
0.00001
|
NM_000320.3(QDPR):c.115A>C (p.Ser39Arg)
|
rs987746060
|
0.00001
|
NM_000320.3(QDPR):c.147C>T (p.Ser49=)
|
rs758659025
|
0.00001
|
NM_000320.3(QDPR):c.151A>G (p.Ser51Gly)
|
rs1353342221
|
0.00001
|
NM_000320.3(QDPR):c.157A>G (p.Ile53Val)
|
rs550966415
|
0.00001
|
NM_000320.3(QDPR):c.172G>A (p.Asp58Asn)
|
rs1172704301
|
0.00001
|
NM_000320.3(QDPR):c.287A>G (p.Lys96Arg)
|
rs1371078094
|
0.00001
|
NM_000320.3(QDPR):c.334A>G (p.Ile112Val)
|
rs112686538
|
0.00001
|
NM_000320.3(QDPR):c.436+5G>C
|
rs764651358
|
0.00001
|
NM_000320.3(QDPR):c.437G>C (p.Gly146Ala)
|
rs144673363
|
0.00001
|
NM_000320.3(QDPR):c.444C>T (p.Ile148=)
|
rs754982401
|
0.00001
|
NM_000320.3(QDPR):c.490C>G (p.Leu164Val)
|
rs774366700
|
0.00001
|
NM_000320.3(QDPR):c.496G>A (p.Gly166Arg)
|
rs768729528
|
0.00001
|
NM_000320.3(QDPR):c.517C>G (p.Pro173Ala)
|
rs1219263968
|
0.00001
|
NM_000320.3(QDPR):c.520G>A (p.Gly174Arg)
|
rs755535883
|
0.00001
|
NM_000320.3(QDPR):c.535G>A (p.Ala179Thr)
|
rs761644688
|
0.00001
|
NM_000320.3(QDPR):c.545C>T (p.Pro182Leu)
|
rs1364780551
|
0.00001
|
NM_000320.3(QDPR):c.55A>T (p.Arg19Trp)
|
rs1431359277
|
0.00001
|
NM_000320.3(QDPR):c.635T>A (p.Phe212Tyr)
|
rs777797545
|
0.00001
|
NM_000320.3(QDPR):c.8C>T (p.Ala3Val)
|
rs759025201
|
0.00001
|
NM_000322.5(PRPH2):c.*1000C>G
|
rs1367940496
|
0.00001
|
NM_000322.5(PRPH2):c.*1007C>A
|
rs886061400
|
0.00001
|
NM_000322.5(PRPH2):c.167A>G (p.Glu56Gly)
|
rs1351857575
|
0.00001
|
NM_000322.5(PRPH2):c.346G>T (p.Ala116Ser)
|
rs140227298
|
0.00001
|
NM_000322.5(PRPH2):c.374C>T (p.Ser125Leu)
|
rs772861671
|
0.00001
|
NM_000322.5(PRPH2):c.852C>A (p.Arg284=)
|
rs745807357
|
0.00001
|
NM_000326.5(RLBP1):c.*212G>A
|
rs1281765664
|
0.00001
|
NM_000326.5(RLBP1):c.-104T>G
|
rs886051502
|
0.00001
|
NM_000326.5(RLBP1):c.353T>G (p.Val118Gly)
|
rs762121817
|
0.00001
|
NM_000326.5(RLBP1):c.626T>C (p.Met209Thr)
|
rs775355367
|
0.00001
|
NM_000326.5(RLBP1):c.684+6G>C
|
rs755347677
|
0.00001
|
NM_000326.5(RLBP1):c.701G>A (p.Arg234Gln)
|
rs150318794
|
0.00001
|
NM_000327.4(ROM1):c.*179A>C
|
rs886048441
|
0.00001
|
NM_000327.4(ROM1):c.1035G>A (p.Lys345=)
|
rs144650228
|
0.00001
|
NM_000327.4(ROM1):c.183C>A (p.Val61=)
|
rs886048440
|
0.00001
|
NM_000327.4(ROM1):c.667C>T (p.Arg223Trp)
|
rs1204988981
|
0.00001
|
NM_000327.4(ROM1):c.974A>C (p.Gln325Pro)
|
rs753460076
|
0.00001
|
NM_000329.3(RPE65):c.*546A>C
|
rs1462746486
|
0.00001
|
NM_000329.3(RPE65):c.*554C>T
|
rs1645802843
|
0.00001
|
NM_000329.3(RPE65):c.1034A>G (p.Asn345Ser)
|
rs769440649
|
0.00001
|
NM_000329.3(RPE65):c.1189A>G (p.Ser397Gly)
|
rs749942889
|
0.00001
|
NM_000329.3(RPE65):c.1220T>C (p.Val407Ala)
|
rs62636297
|
0.00001
|
NM_000329.3(RPE65):c.1235C>T (p.Pro412Leu)
|
rs199613555
|
0.00001
|
NM_000329.3(RPE65):c.124C>T (p.Leu42Phe)
|
rs750724065
|
0.00001
|
NM_000329.3(RPE65):c.1334A>G (p.Asp445Gly)
|
rs1645824155
|
0.00001
|
NM_000329.3(RPE65):c.1486G>A (p.Gly496Arg)
|
rs1468393625
|
0.00001
|
NM_000329.3(RPE65):c.1519G>T (p.Ala507Ser)
|
rs767931252
|
0.00001
|
NM_000329.3(RPE65):c.1533T>G (p.Ser511Arg)
|
rs190761343
|
0.00001
|
NM_000329.3(RPE65):c.1597T>A (p.Ser533Thr)
|
rs577335767
|
0.00001
|
NM_000329.3(RPE65):c.267C>T (p.Tyr89=)
|
rs372620785
|
0.00001
|
NM_000329.3(RPE65):c.302C>T (p.Thr101Ile)
|
rs1444234037
|
0.00001
|
NM_000329.3(RPE65):c.314C>T (p.Thr105Ile)
|
rs1260914084
|
0.00001
|
NM_000329.3(RPE65):c.329A>G (p.Asp110Gly)
|
rs1571170561
|
0.00001
|
NM_000329.3(RPE65):c.375A>G (p.Gly125=)
|
rs992113946
|
0.00001
|
NM_000329.3(RPE65):c.417G>A (p.Val139=)
|
rs536073181
|
0.00001
|
NM_000329.3(RPE65):c.474G>C (p.Glu158Asp)
|
rs1645927491
|
0.00001
|
NM_000329.3(RPE65):c.494A>T (p.Gln165Leu)
|
rs745338004
|
0.00001
|
NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr)
|
rs61752883
|
0.00001
|
NM_000329.3(RPE65):c.547A>G (p.Ile183Val)
|
rs1010958875
|
0.00001
|
NM_000329.3(RPE65):c.563C>T (p.Thr188Ile)
|
rs1196428445
|
0.00001
|
NM_000329.3(RPE65):c.576T>A (p.Ile192=)
|
rs747122876
|
0.00001
|
NM_000329.3(RPE65):c.701G>A (p.Arg234Gln)
|
rs577193739
|
0.00001
|
NM_000329.3(RPE65):c.743A>G (p.Asn248Ser)
|
rs758264644
|
0.00001
|
NM_000329.3(RPE65):c.744C>A (p.Asn248Lys)
|
rs1343005273
|
0.00001
|
NM_000329.3(RPE65):c.783G>T (p.Leu261=)
|
rs188493184
|
0.00001
|
NM_000329.3(RPE65):c.7A>G (p.Ile3Val)
|
rs777461552
|
0.00001
|
NM_000329.3(RPE65):c.858+6T>C
|
rs764221382
|
0.00001
|
NM_000329.3(RPE65):c.874G>A (p.Ala292Thr)
|
rs377762154
|
0.00001
|
NM_000329.3(RPE65):c.909A>C (p.Lys303Asn)
|
rs756160706
|
0.00001
|
NM_000329.3(RPE65):c.920C>T (p.Ser307Phe)
|
rs1261473838
|
0.00001
|
NM_000329.3(RPE65):c.953A>G (p.Tyr318Cys)
|
rs761284021
|
0.00001
|
NM_000329.3(RPE65):c.975T>G (p.Ile325Met)
|
rs761227832
|
0.00001
|
NM_000341.4(SLC3A1):c.1063G>A (p.Val355Met)
|
rs141061483
|
0.00001
|
NM_000341.4(SLC3A1):c.1085G>A (p.Arg362His)
|
rs121912697
|
0.00001
|
NM_000341.4(SLC3A1):c.1098G>C (p.Gln366His)
|
rs745473969
|
0.00001
|
NM_000341.4(SLC3A1):c.1136+10G>A
|
rs755742518
|
0.00001
|
NM_000341.4(SLC3A1):c.1181T>C (p.Val394Ala)
|
rs1238384854
|
0.00001
|
NM_000341.4(SLC3A1):c.1199C>T (p.Pro400Leu)
|
rs759029819
|
0.00001
|
NM_000341.4(SLC3A1):c.1227C>T (p.Phe409=)
|
rs1264045792
|
0.00001
|
NM_000341.4(SLC3A1):c.1250A>T (p.Asp417Val)
|
rs1378685455
|
0.00001
|
NM_000341.4(SLC3A1):c.1259C>G (p.Ser420Cys)
|
rs1031709288
|
0.00001
|
NM_000341.4(SLC3A1):c.1269C>T (p.Ser423=)
|
rs557669708
|
0.00001
|
NM_000341.4(SLC3A1):c.1406T>G (p.Leu469Arg)
|
rs1469809535
|
0.00001
|
NM_000341.4(SLC3A1):c.1626G>T (p.Lys542Asn)
|
rs886056071
|
0.00001
|
NM_000341.4(SLC3A1):c.1657C>G (p.Gln553Glu)
|
rs754053965
|
0.00001
|
NM_000341.4(SLC3A1):c.1810C>T (p.Leu604=)
|
rs770801300
|
0.00001
|
NM_000341.4(SLC3A1):c.1840C>A (p.Leu614Ile)
|
rs199685360
|
0.00001
|
NM_000341.4(SLC3A1):c.184G>A (p.Val62Ile)
|
rs778587102
|
0.00001
|
NM_000341.4(SLC3A1):c.1881C>T (p.Ala627=)
|
rs763292534
|
0.00001
|
NM_000341.4(SLC3A1):c.1921G>T (p.Asp641Tyr)
|
rs267599386
|
0.00001
|
NM_000341.4(SLC3A1):c.1991A>G (p.Asp664Gly)
|
rs377448239
|
0.00001
|
NM_000341.4(SLC3A1):c.303C>T (p.Ile101=)
|
rs752281627
|
0.00001
|
NM_000341.4(SLC3A1):c.395A>G (p.Lys132Arg)
|
rs148787131
|
0.00001
|
NM_000341.4(SLC3A1):c.439G>C (p.Asp147His)
|
rs747368911
|
0.00001
|
NM_000341.4(SLC3A1):c.508C>G (p.Leu170Val)
|
rs757439376
|
0.00001
|
NM_000341.4(SLC3A1):c.597C>A (p.Ala199=)
|
rs1318112597
|
0.00001
|
NM_000341.4(SLC3A1):c.67G>A (p.Gly23Arg)
|
rs750919380
|
0.00001
|
NM_000350.3(ABCA4):c.1009T>C (p.Phe337Leu)
|
rs886044724
|
0.00001
|
NM_000350.3(ABCA4):c.2980A>G (p.Ile994Val)
|
rs546606452
|
0.00001
|
NM_000350.3(ABCA4):c.4765G>A (p.Val1589Met)
|
rs767980304
|
0.00001
|
NM_000350.3(ABCA4):c.4978C>T (p.Pro1660Ser)
|
rs1211325812
|
0.00001
|
NM_000350.3(ABCA4):c.5209G>A (p.Val1737Met)
|
rs761017794
|
0.00001
|
NM_000350.3(ABCA4):c.5383T>G (p.Leu1795Val)
|
rs1188515677
|
0.00001
|
NM_000350.3(ABCA4):c.6805C>T (p.Arg2269Ter)
|
rs372234578
|
0.00001
|
NM_000353.3(TAT):c.*1055A>G
|
rs886052265
|
0.00001
|
NM_000353.3(TAT):c.*1066G>A
|
rs886052264
|
0.00001
|
NM_000353.3(TAT):c.*251T>A
|
rs886052270
|
0.00001
|
NM_000353.3(TAT):c.*742G>A
|
rs527799557
|
0.00001
|
NM_000353.3(TAT):c.*983A>G
|
rs886052266
|
0.00001
|
NM_000353.3(TAT):c.1042-12C>T
|
rs748571289
|
0.00001
|
NM_000353.3(TAT):c.1146T>C (p.His382=)
|
rs141534499
|
0.00001
|
NM_000353.3(TAT):c.1223C>T (p.Thr408Met)
|
rs200815080
|
0.00001
|
NM_000353.3(TAT):c.1250G>A (p.Arg417Gln)
|
rs757879229
|
0.00001
|
NM_000353.3(TAT):c.1290G>A (p.Ala430=)
|
rs767563000
|
0.00001
|
NM_000353.3(TAT):c.1298G>A (p.Arg433Gln)
|
rs775488556
|
0.00001
|
NM_000353.3(TAT):c.235G>A (p.Gly79Arg)
|
rs1489707578
|
0.00001
|
NM_000353.3(TAT):c.355C>T (p.Arg119Trp)
|
rs758306831
|
0.00001
|
NM_000353.3(TAT):c.362A>C (p.Glu121Ala)
|
rs765073890
|
0.00001
|
NM_000353.3(TAT):c.564G>T (p.Leu188Phe)
|
rs781506099
|
0.00001
|
NM_000353.3(TAT):c.614T>C (p.Ile205Thr)
|
rs201857669
|
0.00001
|
NM_000353.3(TAT):c.61C>A (p.His21Asn)
|
rs1378439044
|
0.00001
|
NM_000353.3(TAT):c.707-3C>T
|
rs886052273
|
0.00001
|
NM_000353.3(TAT):c.710C>T (p.Ala237Val)
|
rs895881765
|
0.00001
|
NM_000353.3(TAT):c.716G>A (p.Arg239Gln)
|
rs1597053922
|
0.00001
|
NM_000353.3(TAT):c.932A>G (p.Lys311Arg)
|
rs2044193411
|
0.00001
|
NM_000360.4(TH):c.1038G>C (p.Gln346His)
|
rs770006796
|
0.00001
|
NM_000360.4(TH):c.1076C>T (p.Ser359Leu)
|
rs765379626
|
0.00001
|
NM_000360.4(TH):c.1077G>A (p.Ser359=)
|
rs759797905
|
0.00001
|
NM_000360.4(TH):c.1151A>G (p.Glu384Gly)
|
rs540601354
|
0.00001
|
NM_000360.4(TH):c.1156A>G (p.Lys386Glu)
|
rs1846071121
|
0.00001
|
NM_000360.4(TH):c.1200+5G>C
|
rs774895306
|
0.00001
|
NM_000360.4(TH):c.1233C>T (p.Ala411=)
|
rs768695630
|
0.00001
|
NM_000360.4(TH):c.1250C>T (p.Ala417Val)
|
rs756236294
|
0.00001
|
NM_000360.4(TH):c.1290C>T (p.Val430=)
|
rs367962981
|
0.00001
|
NM_000360.4(TH):c.1301C>G (p.Ser434Cys)
|
rs767211543
|
0.00001
|
NM_000360.4(TH):c.1361C>A (p.Pro454His)
|
rs776457245
|
0.00001
|
NM_000360.4(TH):c.1393G>A (p.Ala465Thr)
|
rs1846021958
|
0.00001
|
NM_000360.4(TH):c.1394C>T (p.Ala465Val)
|
rs1846021859
|
0.00001
|
NM_000360.4(TH):c.1426C>T (p.Arg476Trp)
|
rs201616746
|
0.00001
|
NM_000360.4(TH):c.1427G>A (p.Arg476Gln)
|
rs774575772
|
0.00001
|
NM_000360.4(TH):c.1429C>T (p.Arg477Cys)
|
rs78779683
|
0.00001
|
NM_000360.4(TH):c.1430G>A (p.Arg477His)
|
rs78426052
|
0.00001
|
NM_000360.4(TH):c.1490G>A (p.Gly497Asp)
|
rs753632777
|
0.00001
|
NM_000360.4(TH):c.155C>T (p.Ala52Val)
|
rs1338337952
|
0.00001
|
NM_000360.4(TH):c.185C>T (p.Ser62Leu)
|
rs574633942
|
0.00001
|
NM_000360.4(TH):c.193G>A (p.Gly65Arg)
|
rs780478399
|
0.00001
|
NM_000360.4(TH):c.195G>A (p.Gly65=)
|
rs145628270
|
0.00001
|
NM_000360.4(TH):c.244C>G (p.Leu82Val)
|
rs1221965870
|
0.00001
|
NM_000360.4(TH):c.2T>C (p.Met1Thr)
|
rs201932766
|
0.00001
|
NM_000360.4(TH):c.331C>T (p.His111Tyr)
|
rs911394543
|
0.00001
|
NM_000360.4(TH):c.340G>A (p.Glu114Lys)
|
rs759435668
|
0.00001
|
NM_000360.4(TH):c.38G>C (p.Gly13Ala)
|
rs1225376055
|
0.00001
|
NM_000360.4(TH):c.392T>C (p.Phe131Ser)
|
rs958536401
|
0.00001
|
NM_000360.4(TH):c.393C>T (p.Phe131=)
|
rs1239693053
|
0.00001
|
NM_000360.4(TH):c.427G>A (p.Ala143Thr)
|
rs201911992
|
0.00001
|
NM_000360.4(TH):c.434T>A (p.Leu145His)
|
rs758527628
|
0.00001
|
NM_000360.4(TH):c.43C>T (p.Arg15Cys)
|
rs573547573
|
0.00001
|
NM_000360.4(TH):c.445C>T (p.Arg149Cys)
|
rs779228923
|
0.00001
|
NM_000360.4(TH):c.457G>A (p.Glu153Lys)
|
rs754247629
|
0.00001
|
NM_000360.4(TH):c.458A>G (p.Glu153Gly)
|
rs766666741
|
0.00001
|
NM_000360.4(TH):c.474C>T (p.Pro158=)
|
rs531554933
|
0.00001
|
NM_000360.4(TH):c.477G>A (p.Ala159=)
|
rs1217513263
|
0.00001
|
NM_000360.4(TH):c.517C>A (p.Leu173Met)
|
rs1468608879
|
0.00001
|
NM_000360.4(TH):c.541A>T (p.Thr181Ser)
|
rs774561953
|
0.00001
|
NM_000360.4(TH):c.562G>C (p.Asp188His)
|
rs757849221
|
0.00001
|
NM_000360.4(TH):c.565T>G (p.Leu189Val)
|
rs751996815
|
0.00001
|
NM_000360.4(TH):c.574C>T (p.Pro192Ser)
|
rs753359396
|
0.00001
|
NM_000360.4(TH):c.576+10G>A
|
rs775488025
|
0.00001
|
NM_000360.4(TH):c.576+3G>A
|
rs761872336
|
0.00001
|
NM_000360.4(TH):c.584C>T (p.Ser195Leu)
|
rs372409517
|
0.00001
|
NM_000360.4(TH):c.5C>T (p.Pro2Leu)
|
rs139474171
|
0.00001
|
NM_000360.4(TH):c.604C>T (p.Arg202Cys)
|
rs1021029193
|
0.00001
|
NM_000360.4(TH):c.648C>T (p.Gly216=)
|
rs774810612
|
0.00001
|
NM_000360.4(TH):c.675C>T (p.Thr225=)
|
rs1437906953
|
0.00001
|
NM_000360.4(TH):c.676G>A (p.Ala226Thr)
|
rs549188961
|
0.00001
|
NM_000360.4(TH):c.733A>C (p.Thr245Pro)
|
rs28934581
|
0.00001
|
NM_000360.4(TH):c.739G>C (p.Ala247Pro)
|
rs373283527
|
0.00001
|
NM_000360.4(TH):c.749A>T (p.Glu250Val)
|
rs878855309
|
0.00001
|
NM_000360.4(TH):c.769T>C (p.Leu257=)
|
rs138787428
|
0.00001
|
NM_000360.4(TH):c.773T>C (p.Leu258Pro)
|
rs1846111747
|
0.00001
|
NM_000360.4(TH):c.823G>A (p.Val275Ile)
|
rs770941754
|
0.00001
|
NM_000360.4(TH):c.841+12C>T
|
rs368489295
|
0.00001
|
NM_000360.4(TH):c.848C>T (p.Thr283Met)
|
rs121917764
|
0.00001
|
NM_000360.4(TH):c.91-892C>T
|
rs775961364
|
0.00001
|
NM_000360.4(TH):c.977+9G>C
|
rs752199740
|
0.00001
|
NM_000387.6(SLC25A20):c.*115G>A
|
rs886058658
|
0.00001
|
NM_000387.6(SLC25A20):c.*211T>C
|
rs1321823892
|
0.00001
|
NM_000387.6(SLC25A20):c.*311C>T
|
rs575183195
|
0.00001
|
NM_000387.6(SLC25A20):c.179G>A (p.Arg60Gln)
|
rs761233598
|
0.00001
|
NM_000387.6(SLC25A20):c.187C>G (p.Leu63Val)
|
rs1044481006
|
0.00001
|
NM_000387.6(SLC25A20):c.536A>G (p.Asp179Gly)
|
rs1205051168
|
0.00001
|
NM_000387.6(SLC25A20):c.584A>G (p.Asn195Ser)
|
rs957471249
|
0.00001
|
NM_000387.6(SLC25A20):c.682A>G (p.Ile228Val)
|
rs752670118
|
0.00001
|
NM_000387.6(SLC25A20):c.689C>T (p.Pro230Leu)
|
rs1327726845
|
0.00001
|
NM_000387.6(SLC25A20):c.752A>G (p.Asp251Gly)
|
rs754912115
|
0.00001
|
NM_000387.6(SLC25A20):c.761G>A (p.Arg254Lys)
|
rs370168469
|
0.00001
|
NM_000387.6(SLC25A20):c.803G>T (p.Gly268Val)
|
rs764658807
|
0.00001
|
NM_000387.6(SLC25A20):c.824G>A (p.Arg275Gln)
|
rs376342597
|
0.00001
|
NM_000387.6(SLC25A20):c.843+4A>G
|
rs2083597693
|
0.00001
|
NM_000387.6(SLC25A20):c.906A>G (p.Ter302Trp)
|
rs939873864
|
0.00001
|
NM_000411.8(HLCS):c.-393+7C>T
|
rs886057081
|
0.00001
|
NM_000440.3(PDE6A):c.*814T>C
|
rs1458662327
|
0.00001
|
NM_000440.3(PDE6A):c.*938A>C
|
rs886060212
|
0.00001
|
NM_000440.3(PDE6A):c.1729-4C>T
|
rs555052906
|
0.00001
|
NM_000440.3(PDE6A):c.175G>A (p.Glu59Lys)
|
rs779392630
|
0.00001
|
NM_000440.3(PDE6A):c.2350G>A (p.Val784Ile)
|
rs746482403
|
0.00001
|
NM_000440.3(PDE6A):c.628-5T>G
|
rs757034771
|
0.00001
|
NM_000481.4(AMT):c.*616C>T
|
rs1477520548
|
0.00001
|
NM_000481.4(AMT):c.110C>T (p.Pro37Leu)
|
rs202225151
|
0.00001
|
NM_000481.4(AMT):c.1157T>C (p.Met386Thr)
|
rs757170367
|
0.00001
|
NM_000481.4(AMT):c.153G>A (p.Ala51=)
|
rs768510463
|
0.00001
|
NM_000481.4(AMT):c.158C>T (p.Ala53Val)
|
rs746916262
|
0.00001
|
NM_000481.4(AMT):c.170T>C (p.Leu57Pro)
|
rs1439129399
|
0.00001
|
NM_000481.4(AMT):c.173C>T (p.Pro58Leu)
|
rs1008341193
|
0.00001
|
NM_000481.4(AMT):c.212A>C (p.His71Pro)
|
rs1053797603
|
0.00001
|
NM_000481.4(AMT):c.218G>A (p.Arg73His)
|
rs928833763
|
0.00001
|
NM_000481.4(AMT):c.22G>A (p.Val8Met)
|
rs759853191
|
0.00001
|
NM_000481.4(AMT):c.298A>G (p.Ser100Gly)
|
rs994868932
|
0.00001
|
NM_000481.4(AMT):c.29G>A (p.Arg10His)
|
rs150649086
|
0.00001
|
NM_000481.4(AMT):c.350C>T (p.Ser117Leu)
|
rs769468125
|
0.00001
|
NM_000481.4(AMT):c.425T>G (p.Val142Gly)
|
rs753217454
|
0.00001
|
NM_000481.4(AMT):c.443G>T (p.Cys148Phe)
|
rs140697432
|
0.00001
|
NM_000481.4(AMT):c.471+9C>T
|
rs760770619
|
0.00001
|
NM_000481.4(AMT):c.476A>G (p.Lys159Arg)
|
rs1553638556
|
0.00001
|
NM_000481.4(AMT):c.52T>C (p.Phe18Leu)
|
rs778523705
|
0.00001
|
NM_000481.4(AMT):c.566A>C (p.Gln189Pro)
|
rs1371408104
|
0.00001
|
NM_000481.4(AMT):c.59C>T (p.Pro20Leu)
|
rs749087037
|
0.00001
|
NM_000481.4(AMT):c.60G>A (p.Pro20=)
|
rs374750709
|
0.00001
|
NM_000481.4(AMT):c.613A>G (p.Met205Val)
|
rs766904475
|
0.00001
|
NM_000481.4(AMT):c.638T>G (p.Phe213Cys)
|
rs963795935
|
0.00001
|
NM_000481.4(AMT):c.656G>A (p.Arg219His)
|
rs202043041
|
0.00001
|
NM_000481.4(AMT):c.750C>T (p.Asn250=)
|
rs141324034
|
0.00001
|
NM_000481.4(AMT):c.793C>T (p.Arg265Cys)
|
rs779483959
|
0.00001
|
NM_000481.4(AMT):c.830T>C (p.Ile277Thr)
|
rs1052014497
|
0.00001
|
NM_000481.4(AMT):c.84C>T (p.Cys28=)
|
rs763223038
|
0.00001
|
NM_000481.4(AMT):c.883C>T (p.Arg295Cys)
|
rs891522376
|
0.00001
|
NM_000481.4(AMT):c.890G>A (p.Arg297Gln)
|
rs770048404
|
0.00001
|
NM_000481.4(AMT):c.958C>T (p.Arg320Cys)
|
rs866625610
|
0.00001
|
NM_000481.4(AMT):c.972G>A (p.Met324Ile)
|
rs773215128
|
0.00001
|
NM_000481.4(AMT):c.982G>A (p.Ala328Thr)
|
rs765464808
|
0.00001
|
NM_000531.6(OTC):c.286T>C (p.Ser96Pro)
|
rs184053962
|
0.00001
|
NM_000531.6(OTC):c.368G>A (p.Ser123Asn)
|
rs776830576
|
0.00001
|
NM_000531.6(OTC):c.374C>T (p.Thr125Met)
|
rs72554356
|
0.00001
|
NM_000531.6(OTC):c.401T>C (p.Met134Thr)
|
rs1380616457
|
0.00001
|
NM_000531.6(OTC):c.493G>C (p.Asp165His)
|
rs72556275
|
0.00001
|
NM_000531.6(OTC):c.520G>A (p.Ala174Thr)
|
rs72556281
|
0.00001
|
NM_000531.6(OTC):c.68G>A (p.Arg23Gln)
|
rs148660170
|
0.00001
|
NM_000531.6(OTC):c.847G>C (p.Gly283Arg)
|
rs2068530349
|
0.00001
|
NM_000531.6(OTC):c.896C>T (p.Thr299Ile)
|
rs756772340
|
0.00001
|
NM_000532.5(PCCB):c.1022T>C (p.Ile341Thr)
|
rs757258397
|
0.00001
|
NM_000532.5(PCCB):c.1043A>G (p.Asn348Ser)
|
rs747309318
|
0.00001
|
NM_000532.5(PCCB):c.1140C>G (p.Phe380Leu)
|
rs1277882976
|
0.00001
|
NM_000532.5(PCCB):c.1145A>G (p.Asp382Gly)
|
rs201138170
|
0.00001
|
NM_000532.5(PCCB):c.116T>C (p.Ile39Thr)
|
rs182412270
|
0.00001
|
NM_000532.5(PCCB):c.1199-8A>G
|
rs886058019
|
0.00001
|
NM_000532.5(PCCB):c.1253C>G (p.Ala418Gly)
|
rs770279302
|
0.00001
|
NM_000532.5(PCCB):c.128G>A (p.Arg43His)
|
rs1941481863
|
0.00001
|
NM_000532.5(PCCB):c.1299G>C (p.Lys433Asn)
|
rs774942448
|
0.00001
|
NM_000532.5(PCCB):c.130C>T (p.Arg44Trp)
|
rs749210374
|
0.00001
|
NM_000532.5(PCCB):c.1370C>T (p.Thr457Ile)
|
rs1301343613
|
0.00001
|
NM_000532.5(PCCB):c.1378A>G (p.Ile460Val)
|
rs376998134
|
0.00001
|
NM_000532.5(PCCB):c.1384G>A (p.Val462Ile)
|
rs796052026
|
0.00001
|
NM_000532.5(PCCB):c.139C>G (p.Leu47Val)
|
rs199935380
|
0.00001
|
NM_000532.5(PCCB):c.143T>G (p.Leu48Arg)
|
rs1368586445
|
0.00001
|
NM_000532.5(PCCB):c.1444G>T (p.Ala482Ser)
|
rs752000929
|
0.00001
|
NM_000532.5(PCCB):c.1456T>C (p.Tyr486His)
|
rs143190442
|
0.00001
|
NM_000532.5(PCCB):c.1481T>C (p.Phe494Ser)
|
rs1935428949
|
0.00001
|
NM_000532.5(PCCB):c.1502T>C (p.Phe501Ser)
|
rs1483082276
|
0.00001
|
NM_000532.5(PCCB):c.1504G>A (p.Val502Met)
|
rs763024986
|
0.00001
|
NM_000532.5(PCCB):c.182G>A (p.Arg61Gln)
|
rs909550005
|
0.00001
|
NM_000532.5(PCCB):c.183+12_183+31dup
|
rs745694339
|
0.00001
|
NM_000532.5(PCCB):c.263A>G (p.His88Arg)
|
rs771333669
|
0.00001
|
NM_000532.5(PCCB):c.305T>G (p.Phe102Cys)
|
rs1248879007
|
0.00001
|
NM_000532.5(PCCB):c.31G>C (p.Gly11Arg)
|
rs757860152
|
0.00001
|
NM_000532.5(PCCB):c.332G>A (p.Arg111Gln)
|
rs757534748
|
0.00001
|
NM_000532.5(PCCB):c.38G>A (p.Arg13Lys)
|
rs1941477030
|
0.00001
|
NM_000532.5(PCCB):c.460C>T (p.Pro154Ser)
|
rs1468203736
|
0.00001
|
NM_000532.5(PCCB):c.46G>T (p.Val16Phe)
|
rs780842004
|
0.00001
|
NM_000532.5(PCCB):c.484G>T (p.Gly162Trp)
|
rs754752068
|
0.00001
|
NM_000532.5(PCCB):c.563G>C (p.Gly188Ala)
|
rs796052024
|
0.00001
|
NM_000532.5(PCCB):c.580T>G (p.Ser194Ala)
|
rs1237531952
|
0.00001
|
NM_000532.5(PCCB):c.583C>G (p.Leu195Val)
|
rs747267484
|
0.00001
|
NM_000532.5(PCCB):c.646A>G (p.Met216Val)
|
rs747252352
|
0.00001
|
NM_000532.5(PCCB):c.654+14G>T
|
rs1457950469
|
0.00001
|
NM_000532.5(PCCB):c.67G>A (p.Ala23Thr)
|
rs772483250
|
0.00001
|
NM_000532.5(PCCB):c.719C>T (p.Thr240Ile)
|
rs762986402
|
0.00001
|
NM_000532.5(PCCB):c.733G>A (p.Gly245Ser)
|
rs756414710
|
0.00001
|
NM_000532.5(PCCB):c.743A>G (p.Lys248Arg)
|
rs1365706286
|
0.00001
|
NM_000532.5(PCCB):c.746C>T (p.Thr249Ile)
|
rs779581071
|
0.00001
|
NM_000532.5(PCCB):c.758T>C (p.Met253Thr)
|
rs747881252
|
0.00001
|
NM_000532.5(PCCB):c.788A>G (p.Asn263Ser)
|
rs749071200
|
0.00001
|
NM_000532.5(PCCB):c.814C>T (p.Arg272Trp)
|
rs375999824
|
0.00001
|
NM_000532.5(PCCB):c.86G>T (p.Cys29Phe)
|
rs765843410
|
0.00001
|
NM_000532.5(PCCB):c.876C>G (p.His292Gln)
|
rs776893713
|
0.00001
|
NM_000532.5(PCCB):c.907G>C (p.Asp303His)
|
rs943266027
|
0.00001
|
NM_000532.5(PCCB):c.920C>T (p.Pro307Leu)
|
rs1370289032
|
0.00001
|
NM_000532.5(PCCB):c.943A>G (p.Asn315Asp)
|
rs1456890228
|
0.00001
|
NM_000532.5(PCCB):c.944A>G (p.Asn315Ser)
|
rs558836100
|
0.00001
|
NM_000532.5(PCCB):c.966T>C (p.Ser322=)
|
rs1269805994
|
0.00001
|
NM_000532.5(PCCB):c.967-3C>T
|
rs1186569803
|
0.00001
|
NM_000532.5(PCCB):c.979C>T (p.Arg327Cys)
|
rs377660729
|
0.00001
|
NM_000539.3(RHO):c.*1144C>T
|
rs886057977
|
0.00001
|
NM_000539.3(RHO):c.185C>A (p.Thr62Asn)
|
rs769464362
|
0.00001
|
NM_000539.3(RHO):c.48G>A (p.Ala16=)
|
rs766112074
|
0.00001
|
NM_000539.3(RHO):c.62G>A (p.Arg21His)
|
rs552455660
|
0.00001
|
NM_000539.3(RHO):c.732G>A (p.Gln244=)
|
rs148222991
|
0.00001
|
NM_000539.3(RHO):c.754C>T (p.Arg252Cys)
|
rs752805805
|
0.00001
|
NM_000539.3(RHO):c.87C>T (p.Tyr29=)
|
rs149084537
|
0.00001
|
NM_000539.3(RHO):c.962T>A (p.Ile321Asn)
|
rs1316267671
|
0.00001
|
NM_000541.5(SAG):c.-11G>A
|
rs754551985
|
0.00001
|
NM_000541.5(SAG):c.-28-10A>G
|
rs1462642188
|
0.00001
|
NM_000541.5(SAG):c.208C>T (p.Arg70Cys)
|
rs777934036
|
0.00001
|
NM_000541.5(SAG):c.75+7G>T
|
rs753990994
|
0.00001
|
NM_000541.5(SAG):c.778G>A (p.Val260Ile)
|
rs1443433091
|
0.00001
|
NM_000554.6(CRX):c.*252C>T
|
rs886054549
|
0.00001
|
NM_000554.6(CRX):c.*2544G>A
|
rs1281739542
|
0.00001
|
NM_000554.6(CRX):c.*2785C>T
|
rs886054560
|
0.00001
|
NM_000554.6(CRX):c.*79C>T
|
rs769100863
|
0.00001
|
NM_000554.6(CRX):c.*908G>A
|
rs886054554
|
0.00001
|
NM_000554.6(CRX):c.11A>G (p.Tyr4Cys)
|
rs1211313175
|
0.00001
|
NM_000554.6(CRX):c.140C>T (p.Thr47Ile)
|
rs1203670123
|
0.00001
|
NM_000554.6(CRX):c.142C>T (p.Arg48Trp)
|
rs761797993
|
0.00001
|
NM_000554.6(CRX):c.205C>T (p.Arg69Cys)
|
rs771551785
|
0.00001
|
NM_000554.6(CRX):c.20C>T (p.Pro7Leu)
|
rs558522333
|
0.00001
|
NM_000554.6(CRX):c.225G>T (p.Lys75Asn)
|
rs1568624864
|
0.00001
|
NM_000554.6(CRX):c.253-7C>G
|
rs754128724
|
0.00001
|
NM_000554.6(CRX):c.269G>A (p.Arg90Gln)
|
rs1209634994
|
0.00001
|
NM_000554.6(CRX):c.343C>T (p.Arg115Trp)
|
rs1056691132
|
0.00001
|
NM_000554.6(CRX):c.412A>G (p.Ile138Val)
|
rs373934471
|
0.00001
|
NM_000554.6(CRX):c.433C>T (p.Pro145Ser)
|
rs149300196
|
0.00001
|
NM_000554.6(CRX):c.439C>T (p.Pro147Ser)
|
rs1173779531
|
0.00001
|
NM_000554.6(CRX):c.43G>A (p.Ala15Thr)
|
rs559181643
|
0.00001
|
NM_000554.6(CRX):c.43G>C (p.Ala15Pro)
|
rs559181643
|
0.00001
|
NM_000554.6(CRX):c.526C>G (p.Arg176Gly)
|
rs543243551
|
0.00001
|
NM_000554.6(CRX):c.560C>T (p.Thr187Ile)
|
rs758125850
|
0.00001
|
NM_000554.6(CRX):c.632C>T (p.Pro211Leu)
|
rs559042370
|
0.00001
|
NM_000554.6(CRX):c.673A>C (p.Met225Leu)
|
rs765976845
|
0.00001
|
NM_000554.6(CRX):c.688G>C (p.Gly230Arg)
|
rs1461832129
|
0.00001
|
NM_000554.6(CRX):c.740C>T (p.Ala247Val)
|
rs1196719242
|
0.00001
|
NM_000554.6(CRX):c.78G>A (p.Met26Ile)
|
rs886054544
|
0.00001
|
NM_000554.6(CRX):c.806_809dup (p.Lys270fs)
|
rs1968173706
|
0.00001
|
NM_000554.6(CRX):c.8C>T (p.Ala3Val)
|
rs762715327
|
0.00001
|
NM_000666.3(ACY1):c.1000A>T (p.Met334Leu)
|
rs767883181
|
0.00001
|
NM_000666.3(ACY1):c.1001T>C (p.Met334Thr)
|
rs750876815
|
0.00001
|
NM_000687.4(AHCY):c.*112G>A
|
rs2035978307
|
0.00001
|
NM_000687.4(AHCY):c.*417A>T
|
rs2035968636
|
0.00001
|
NM_000687.4(AHCY):c.*427T>C
|
rs574438360
|
0.00001
|
NM_000687.4(AHCY):c.110A>T (p.Glu37Val)
|
rs746513037
|
0.00001
|
NM_000687.4(AHCY):c.1190C>T (p.Ala397Val)
|
rs202122223
|
0.00001
|
NM_000687.4(AHCY):c.219+8C>T
|
rs768480898
|
0.00001
|
NM_000687.4(AHCY):c.317C>T (p.Thr106Met)
|
rs910267027
|
0.00001
|
NM_000687.4(AHCY):c.61G>A (p.Ala21Thr)
|
rs754753419
|
0.00001
|
NM_000687.4(AHCY):c.718A>G (p.Ile240Val)
|
rs747198963
|
0.00001
|
NM_000687.4(AHCY):c.808A>G (p.Asn270Asp)
|
rs756816446
|
0.00001
|
NM_000687.4(AHCY):c.875A>G (p.Asp292Gly)
|
rs1234006772
|
0.00001
|
NM_000687.4(AHCY):c.936C>T (p.Asn312=)
|
rs528770765
|
0.00001
|
NM_000709.4(BCKDHA):c.*335G>A
|
rs886054463
|
0.00001
|
NM_000709.4(BCKDHA):c.1036C>T (p.Arg346Cys)
|
rs182923857
|
0.00001
|
NM_000709.4(BCKDHA):c.1037G>A (p.Arg346His)
|
rs398123486
|
0.00001
|
NM_000709.4(BCKDHA):c.1055A>G (p.Asn352Ser)
|
rs766755823
|
0.00001
|
NM_000709.4(BCKDHA):c.1094G>A (p.Arg365Gln)
|
rs375957868
|
0.00001
|
NM_000709.4(BCKDHA):c.1160G>A (p.Arg387His)
|
rs1052314774
|
0.00001
|
NM_000709.4(BCKDHA):c.1262G>A (p.Arg421His)
|
rs535975575
|
0.00001
|
NM_000709.4(BCKDHA):c.277G>A (p.Glu93Lys)
|
rs753452195
|
0.00001
|
NM_000709.4(BCKDHA):c.359A>G (p.Tyr120Cys)
|
rs764284154
|
0.00001
|
NM_000709.4(BCKDHA):c.424G>A (p.Val142Met)
|
rs750226738
|
0.00001
|
NM_000709.4(BCKDHA):c.435C>T (p.Ala145=)
|
rs369278165
|
0.00001
|
NM_000709.4(BCKDHA):c.449A>G (p.Asn150Ser)
|
rs2039284627
|
0.00001
|
NM_000709.4(BCKDHA):c.475C>T (p.Arg159Trp)
|
rs769688327
|
0.00001
|
NM_000709.4(BCKDHA):c.47G>A (p.Gly16Asp)
|
rs766174938
|
0.00001
|
NM_000709.4(BCKDHA):c.497A>T (p.Tyr166Phe)
|
rs2039337230
|
0.00001
|
NM_000709.4(BCKDHA):c.499C>T (p.Arg167Trp)
|
rs398123502
|
0.00001
|
NM_000709.4(BCKDHA):c.59C>T (p.Ala20Val)
|
rs1159645644
|
0.00001
|
NM_000709.4(BCKDHA):c.656C>T (p.Ala219Val)
|
rs532361185
|
0.00001
|
NM_000709.4(BCKDHA):c.787T>C (p.Phe263Leu)
|
rs771360993
|
0.00001
|
NM_000709.4(BCKDHA):c.882G>A (p.Met294Ile)
|
rs1568508232
|
0.00001
|
NM_000709.4(BCKDHA):c.919T>C (p.Tyr307His)
|
rs138261404
|
0.00001
|
NM_000709.4(BCKDHA):c.925G>A (p.Ala309Thr)
|
rs760651615
|
0.00001
|
NM_000709.4(BCKDHA):c.944G>A (p.Arg315Gln)
|
rs201109190
|
0.00001
|
NM_000717.5(CA4):c.162C>G (p.Ile54Met)
|
rs778411450
|
0.00001
|
NM_000717.5(CA4):c.288C>T (p.Asn96=)
|
rs749532892
|
0.00001
|
NM_000812.4(GABRB1):c.1142C>T (p.Ser381Leu)
|
rs539587921
|
0.00001
|
NM_000836.4(GRIN2D):c.1085+13G>A
|
rs956727278
|
0.00001
|
NM_000836.4(GRIN2D):c.1558G>A (p.Val520Ile)
|
rs761726968
|
0.00001
|
NM_000836.4(GRIN2D):c.1855G>A (p.Gly619Ser)
|
rs141530315
|
0.00001
|
NM_000836.4(GRIN2D):c.3250G>A (p.Gly1084Ser)
|
rs1340140743
|
0.00001
|
NM_000836.4(GRIN2D):c.344T>C (p.Val115Ala)
|
rs757989014
|
0.00001
|
NM_000836.4(GRIN2D):c.3523C>G (p.Pro1175Ala)
|
rs1971333907
|
0.00001
|
NM_000836.4(GRIN2D):c.838G>A (p.Ala280Thr)
|
rs759019629
|
0.00001
|
NM_000883.4(IMPDH1):c.*258C>T
|
rs886061981
|
0.00001
|
NM_000883.4(IMPDH1):c.*631C>T
|
rs760544024
|
0.00001
|
NM_000883.4(IMPDH1):c.*694C>A
|
rs1179467429
|
0.00001
|
NM_000883.4(IMPDH1):c.*722C>T
|
rs886061980
|
0.00001
|
NM_000883.4(IMPDH1):c.-13C>T
|
rs1373186956
|
0.00001
|
NM_000883.4(IMPDH1):c.1433C>T (p.Thr478Ile)
|
rs564132747
|
0.00001
|
NM_000883.4(IMPDH1):c.255-10C>T
|
rs1478038443
|
0.00001
|
NM_001001563.5(TIMM50):c.854-8G>C
|
rs1166132682
|
0.00001
|
NM_001002755.2(NFU1):c.-197T>G
|
rs886056269
|
0.00001
|
NM_001002755.4(NFU1):c.-1G>A
|
rs886056267
|
0.00001
|
NM_001002755.4(NFU1):c.12G>A (p.Thr4=)
|
rs767315359
|
0.00001
|
NM_001002755.4(NFU1):c.154T>G (p.Phe52Val)
|
rs770513953
|
0.00001
|
NM_001002755.4(NFU1):c.373A>G (p.Asn125Asp)
|
rs769275443
|
0.00001
|
NM_001003841.3(SLC6A19):c.1468G>A (p.Gly490Ser)
|
rs775323445
|
0.00001
|
NM_001003841.3(SLC6A19):c.1888G>A (p.Gly630Arg)
|
rs1298382357
|
0.00001
|
NM_001003841.3(SLC6A19):c.908C>T (p.Ser303Leu)
|
rs201212000
|
0.00001
|
NM_001003841.3(SLC6A19):c.985G>A (p.Ala329Thr)
|
rs199795977
|
0.00001
|
NM_001010867.4(IBA57):c.190C>A (p.Pro64Thr)
|
rs755628436
|
0.00001
|
NM_001010867.4(IBA57):c.206T>C (p.Phe69Ser)
|
rs778284446
|
0.00001
|
NM_001010867.4(IBA57):c.227A>G (p.Asn76Ser)
|
rs1168294957
|
0.00001
|
NM_001010867.4(IBA57):c.262G>A (p.Ala88Thr)
|
rs1186238890
|
0.00001
|
NM_001010867.4(IBA57):c.266C>T (p.Pro89Leu)
|
rs1191467500
|
0.00001
|
NM_001010867.4(IBA57):c.313C>T (p.Arg105Trp)
|
rs1298056442
|
0.00001
|
NM_001010867.4(IBA57):c.335T>G (p.Leu112Trp)
|
rs775646159
|
0.00001
|
NM_001010867.4(IBA57):c.566C>T (p.Pro189Leu)
|
rs1403342810
|
0.00001
|
NM_001010867.4(IBA57):c.577C>T (p.Arg193Cys)
|
rs1324456932
|
0.00001
|
NM_001010867.4(IBA57):c.589C>T (p.Arg197Trp)
|
rs368114681
|
0.00001
|
NM_001010867.4(IBA57):c.706C>G (p.Pro236Ala)
|
rs769063859
|
0.00001
|
NM_001010867.4(IBA57):c.826C>T (p.Arg276Cys)
|
rs143575106
|
0.00001
|
NM_001010867.4(IBA57):c.827G>A (p.Arg276His)
|
rs1245306816
|
0.00001
|
NM_001010867.4(IBA57):c.85T>G (p.Cys29Gly)
|
rs951070079
|
0.00001
|
NM_001010898.4(SLC6A17):c.29G>A (p.Arg10His)
|
rs146348475
|
0.00001
|
NM_001012720.2(RGR):c.*484T>C
|
rs886047353
|
0.00001
|
NM_001012720.2(RGR):c.*89C>T
|
rs1182311979
|
0.00001
|
NM_001012720.2(RGR):c.512+8G>A
|
rs777466420
|
0.00001
|
NM_001017979.3(RAB28):c.55G>A (p.Gly19Arg)
|
rs1312475876
|
0.00001
|
NM_001024845.3(SLC6A9):c.1144C>T (p.Pro382Ser)
|
rs1336348098
|
0.00001
|
NM_001024845.3(SLC6A9):c.1441C>T (p.Arg481Trp)
|
rs755142891
|
0.00001
|
NM_001024845.3(SLC6A9):c.1685C>T (p.Thr562Ile)
|
rs756857614
|
0.00001
|
NM_001024845.3(SLC6A9):c.1697C>A (p.Thr566Asn)
|
rs1331993313
|
0.00001
|
NM_001024845.3(SLC6A9):c.1844C>T (p.Ala615Val)
|
rs202156666
|
0.00001
|
NM_001024845.3(SLC6A9):c.31-6191C>T
|
rs200396487
|
0.00001
|
NM_001024845.3(SLC6A9):c.31-684G>T
|
rs1571886606
|
0.00001
|
NM_001024845.3(SLC6A9):c.664G>A (p.Gly222Ser)
|
rs143087050
|
0.00001
|
NM_001024845.3(SLC6A9):c.793G>A (p.Glu265Lys)
|
rs199830284
|
0.00001
|
NM_001029883.3(PCARE):c.*1278C>A
|
rs886055915
|
0.00001
|
NM_001029883.3(PCARE):c.*1296T>G
|
rs537457852
|
0.00001
|
NM_001029883.3(PCARE):c.*227T>C
|
rs536483762
|
0.00001
|
NM_001029883.3(PCARE):c.*2383G>A
|
rs553420408
|
0.00001
|
NM_001029883.3(PCARE):c.*2546G>A
|
rs1211787095
|
0.00001
|
NM_001029883.3(PCARE):c.*3008G>T
|
rs766320812
|
0.00001
|
NM_001029883.3(PCARE):c.*599G>A
|
rs886055918
|
0.00001
|
NM_001029883.3(PCARE):c.1500G>A (p.Met500Ile)
|
rs886055924
|
0.00001
|
NM_001029883.3(PCARE):c.1604T>C (p.Leu535Pro)
|
rs886055923
|
0.00001
|
NM_001029883.3(PCARE):c.2175T>A (p.Cys725Ter)
|
rs1187627005
|
0.00001
|
NM_001029883.3(PCARE):c.2539G>C (p.Glu847Gln)
|
rs541757069
|
0.00001
|
NM_001029883.3(PCARE):c.2707C>A (p.Pro903Thr)
|
rs771188017
|
0.00001
|
NM_001029883.3(PCARE):c.2874C>T (p.Ile958=)
|
rs748746281
|
0.00001
|
NM_001029883.3(PCARE):c.3269C>T (p.Ser1090Leu)
|
rs761290140
|
0.00001
|
NM_001029883.3(PCARE):c.3307A>G (p.Arg1103Gly)
|
rs375443061
|
0.00001
|
NM_001029883.3(PCARE):c.3626A>G (p.Asp1209Gly)
|
rs572724183
|
0.00001
|
NM_001029883.3(PCARE):c.3816C>A (p.Ile1272=)
|
rs749808562
|
0.00001
|
NM_001029883.3(PCARE):c.655G>A (p.Val219Ile)
|
rs1667535059
|
0.00001
|
NM_001031710.2(KLHL7):c.-271C>T
|
rs886062215
|
0.00001
|
NM_001031710.3(KLHL7):c.*392G>T
|
rs1230711606
|
0.00001
|
NM_001031710.3(KLHL7):c.*809C>G
|
rs1314740850
|
0.00001
|
NM_001031710.3(KLHL7):c.*913T>C
|
rs886062220
|
0.00001
|
NM_001031710.3(KLHL7):c.1092G>A (p.Ser364=)
|
rs770570364
|
0.00001
|
NM_001031710.3(KLHL7):c.126G>A (p.Thr42=)
|
rs150640353
|
0.00001
|
NM_001031710.3(KLHL7):c.1378A>G (p.Thr460Ala)
|
rs761755398
|
0.00001
|
NM_001031710.3(KLHL7):c.1597T>C (p.Leu533=)
|
rs144156217
|
0.00001
|
NM_001031710.3(KLHL7):c.318-7T>C
|
rs886062217
|
0.00001
|
NM_001031710.3(KLHL7):c.416A>G (p.Glu139Gly)
|
rs369829959
|
0.00001
|
NM_001031710.3(KLHL7):c.618+10T>C
|
rs1248148456
|
0.00001
|
NM_001034853.2(RPGR):c.2417A>G (p.Glu806Gly)
|
rs1364555173
|
0.00001
|
NM_001042432.2(CLN3):c.1268C>T (p.Ser423Leu)
|
rs386833706
|
0.00001
|
NM_001077620.3(PRCD):c.*1509G>A
|
rs777248455
|
0.00001
|
NM_001077620.3(PRCD):c.*413A>G
|
rs775233504
|
0.00001
|
NM_001077620.3(PRCD):c.*605G>A
|
rs886053477
|
0.00001
|
NM_001077620.3(PRCD):c.*764C>T
|
rs886053479
|
0.00001
|
NM_001080.3(ALDH5A1):c.*1267dup
|
rs886061275
|
0.00001
|
NM_001080.3(ALDH5A1):c.*1422C>A
|
rs567445773
|
0.00001
|
NM_001080.3(ALDH5A1):c.*1426T>C
|
rs574203430
|
0.00001
|
NM_001080.3(ALDH5A1):c.*3224C>G
|
rs886061281
|
0.00001
|
NM_001080.3(ALDH5A1):c.*550C>T
|
rs886061269
|
0.00001
|
NM_001080.3(ALDH5A1):c.1081G>A (p.Ala361Thr)
|
rs1759722342
|
0.00001
|
NM_001080.3(ALDH5A1):c.1082C>T (p.Ala361Val)
|
rs763860786
|
0.00001
|
NM_001080.3(ALDH5A1):c.1084G>A (p.Glu362Lys)
|
rs1222413080
|
0.00001
|
NM_001080.3(ALDH5A1):c.1105C>T (p.Arg369Cys)
|
rs772038058
|
0.00001
|
NM_001080.3(ALDH5A1):c.1108G>A (p.Val370Ile)
|
rs754091433
|
0.00001
|
NM_001080.3(ALDH5A1):c.110C>T (p.Pro37Leu)
|
rs1764663428
|
0.00001
|
NM_001080.3(ALDH5A1):c.112G>A (p.Ala38Thr)
|
rs368068626
|
0.00001
|
NM_001080.3(ALDH5A1):c.113C>T (p.Ala38Val)
|
rs772101716
|
0.00001
|
NM_001080.3(ALDH5A1):c.116C>G (p.Pro39Arg)
|
rs1251540347
|
0.00001
|
NM_001080.3(ALDH5A1):c.118G>C (p.Gly40Arg)
|
rs1326202301
|
0.00001
|
NM_001080.3(ALDH5A1):c.1191T>G (p.Asn397Lys)
|
rs923140210
|
0.00001
|
NM_001080.3(ALDH5A1):c.1192G>C (p.Asp398His)
|
rs894412564
|
0.00001
|
NM_001080.3(ALDH5A1):c.122C>T (p.Pro41Leu)
|
rs1764664671
|
0.00001
|
NM_001080.3(ALDH5A1):c.1235G>A (p.Arg412Gln)
|
rs760658291
|
0.00001
|
NM_001080.3(ALDH5A1):c.1252A>C (p.Asn418His)
|
rs759646740
|
0.00001
|
NM_001080.3(ALDH5A1):c.1255T>G (p.Phe419Val)
|
rs1219635429
|
0.00001
|
NM_001080.3(ALDH5A1):c.1310A>G (p.Glu437Gly)
|
rs201834553
|
0.00001
|
NM_001080.3(ALDH5A1):c.137G>A (p.Cys46Tyr)
|
rs1397377730
|
0.00001
|
NM_001080.3(ALDH5A1):c.1439G>A (p.Arg480Lys)
|
rs1055012664
|
0.00001
|
NM_001080.3(ALDH5A1):c.1478A>G (p.Asn493Ser)
|
rs776978579
|
0.00001
|
NM_001080.3(ALDH5A1):c.1534C>G (p.Leu512Val)
|
rs1226094055
|
0.00001
|
NM_001080.3(ALDH5A1):c.154G>A (p.Ala52Thr)
|
rs886043944
|
0.00001
|
NM_001080.3(ALDH5A1):c.1565A>G (p.Asp522Gly)
|
rs777938693
|
0.00001
|
NM_001080.3(ALDH5A1):c.189C>G (p.Ser63Arg)
|
rs1288315589
|
0.00001
|
NM_001080.3(ALDH5A1):c.199G>A (p.Gly67Ser)
|
rs904596298
|
0.00001
|
NM_001080.3(ALDH5A1):c.202C>T (p.Arg68Cys)
|
rs1336249565
|
0.00001
|
NM_001080.3(ALDH5A1):c.20T>G (p.Leu7Arg)
|
rs774379306
|
0.00001
|
NM_001080.3(ALDH5A1):c.230C>T (p.Pro77Leu)
|
rs1417067364
|
0.00001
|
NM_001080.3(ALDH5A1):c.259C>G (p.Leu87Val)
|
rs1764671047
|
0.00001
|
NM_001080.3(ALDH5A1):c.267G>A (p.Met89Ile)
|
rs964260186
|
0.00001
|
NM_001080.3(ALDH5A1):c.290A>G (p.Glu97Gly)
|
rs1479579407
|
0.00001
|
NM_001080.3(ALDH5A1):c.317A>G (p.Tyr106Cys)
|
rs1581801050
|
0.00001
|
NM_001080.3(ALDH5A1):c.319G>C (p.Glu107Gln)
|
rs867767856
|
0.00001
|
NM_001080.3(ALDH5A1):c.355G>A (p.Glu119Lys)
|
rs763173446
|
0.00001
|
NM_001080.3(ALDH5A1):c.374G>A (p.Arg125Gln)
|
rs753604213
|
0.00001
|
NM_001080.3(ALDH5A1):c.411C>A (p.Asp137Glu)
|
rs1216101332
|
0.00001
|
NM_001080.3(ALDH5A1):c.461A>G (p.His154Arg)
|
rs141686677
|
0.00001
|
NM_001080.3(ALDH5A1):c.481G>A (p.Ala161Thr)
|
rs139486423
|
0.00001
|
NM_001080.3(ALDH5A1):c.514C>T (p.Arg172Cys)
|
rs551902853
|
0.00001
|
NM_001080.3(ALDH5A1):c.515G>A (p.Arg172His)
|
rs773814880
|
0.00001
|
NM_001080.3(ALDH5A1):c.532A>G (p.Ile178Val)
|
rs751365223
|
0.00001
|
NM_001080.3(ALDH5A1):c.541A>G (p.Thr181Ala)
|
rs975269028
|
0.00001
|
NM_001080.3(ALDH5A1):c.595G>A (p.Ala199Thr)
|
rs775136518
|
0.00001
|
NM_001080.3(ALDH5A1):c.609+5G>T
|
rs376633237
|
0.00001
|
NM_001080.3(ALDH5A1):c.649G>A (p.Ala217Thr)
|
rs1064796319
|
0.00001
|
NM_001080.3(ALDH5A1):c.692A>G (p.Glu231Gly)
|
rs757605946
|
0.00001
|
NM_001080.3(ALDH5A1):c.781C>G (p.Arg261Gly)
|
rs774496720
|
0.00001
|
NM_001080.3(ALDH5A1):c.786G>C (p.Lys262Asn)
|
rs766715554
|
0.00001
|
NM_001080.3(ALDH5A1):c.793A>G (p.Lys265Glu)
|
rs760040470
|
0.00001
|
NM_001080.3(ALDH5A1):c.798A>T (p.Glu266Asp)
|
rs751098237
|
0.00001
|
NM_001080.3(ALDH5A1):c.848C>G (p.Thr283Ser)
|
rs1759548002
|
0.00001
|
NM_001080.3(ALDH5A1):c.88G>A (p.Gly30Ser)
|
rs1171926592
|
0.00001
|
NM_001080.3(ALDH5A1):c.923G>A (p.Gly308Asp)
|
rs766161222
|
0.00001
|
NM_001080.3(ALDH5A1):c.925G>A (p.Gly309Ser)
|
rs768719885
|
0.00001
|
NM_001080.3(ALDH5A1):c.958A>G (p.Asn320Asp)
|
rs912930280
|
0.00001
|
NM_001081.4(CUBN):c.*203C>T
|
rs769041830
|
0.00001
|
NM_001081.4(CUBN):c.*281A>G
|
rs886046858
|
0.00001
|
NM_001081.4(CUBN):c.*446A>G
|
rs1315458918
|
0.00001
|
NM_001081.4(CUBN):c.-42G>T
|
rs751905101
|
0.00001
|
NM_001081.4(CUBN):c.10012C>A (p.Gln3338Lys)
|
rs755210947
|
0.00001
|
NM_001081.4(CUBN):c.10181-14A>G
|
rs886046864
|
0.00001
|
NM_001081.4(CUBN):c.1022A>G (p.Gln341Arg)
|
rs149517557
|
0.00001
|
NM_001081.4(CUBN):c.10238A>G (p.Asp3413Gly)
|
rs760807440
|
0.00001
|
NM_001081.4(CUBN):c.10795T>C (p.Ser3599Pro)
|
rs1177156381
|
0.00001
|
NM_001081.4(CUBN):c.1272G>T (p.Trp424Cys)
|
rs563035840
|
0.00001
|
NM_001081.4(CUBN):c.1418-9C>A
|
rs779016475
|
0.00001
|
NM_001081.4(CUBN):c.164C>T (p.Thr55Met)
|
rs774556167
|
0.00001
|
NM_001081.4(CUBN):c.2005T>C (p.Ser669Pro)
|
rs751139014
|
0.00001
|
NM_001081.4(CUBN):c.2306G>A (p.Arg769Gln)
|
rs770625165
|
0.00001
|
NM_001081.4(CUBN):c.2311G>A (p.Gly771Ser)
|
rs866820343
|
0.00001
|
NM_001081.4(CUBN):c.2441A>G (p.Gln814Arg)
|
rs770392464
|
0.00001
|
NM_001081.4(CUBN):c.2536A>G (p.Ile846Val)
|
rs775423928
|
0.00001
|
NM_001081.4(CUBN):c.265A>C (p.Lys89Gln)
|
rs755860454
|
0.00001
|
NM_001081.4(CUBN):c.2795G>A (p.Cys932Tyr)
|
rs572470830
|
0.00001
|
NM_001081.4(CUBN):c.2822G>A (p.Gly941Glu)
|
rs757185023
|
0.00001
|
NM_001081.4(CUBN):c.3101G>C (p.Gly1034Ala)
|
rs778092585
|
0.00001
|
NM_001081.4(CUBN):c.3308A>G (p.Tyr1103Cys)
|
rs760682560
|
0.00001
|
NM_001081.4(CUBN):c.3932G>A (p.Arg1311Gln)
|
rs1037514591
|
0.00001
|
NM_001081.4(CUBN):c.3944G>A (p.Gly1315Asp)
|
rs773480436
|
0.00001
|
NM_001081.4(CUBN):c.4242C>T (p.Asn1414=)
|
rs138052938
|
0.00001
|
NM_001081.4(CUBN):c.4907G>T (p.Arg1636Leu)
|
rs538984401
|
0.00001
|
NM_001081.4(CUBN):c.5076C>T (p.Leu1692=)
|
rs886046874
|
0.00001
|
NM_001081.4(CUBN):c.5131G>A (p.Ala1711Thr)
|
rs768182223
|
0.00001
|
NM_001081.4(CUBN):c.5416C>A (p.His1806Asn)
|
rs146438022
|
0.00001
|
NM_001081.4(CUBN):c.5548A>T (p.Ile1850Leu)
|
rs200277745
|
0.00001
|
NM_001081.4(CUBN):c.5982G>A (p.Pro1994=)
|
rs560009723
|
0.00001
|
NM_001081.4(CUBN):c.6211A>G (p.Ile2071Val)
|
rs567146793
|
0.00001
|
NM_001081.4(CUBN):c.6728C>T (p.Pro2243Leu)
|
rs544059289
|
0.00001
|
NM_001081.4(CUBN):c.6729G>A (p.Pro2243=)
|
rs757609735
|
0.00001
|
NM_001081.4(CUBN):c.6821+3A>G
|
rs767078847
|
0.00001
|
NM_001081.4(CUBN):c.6847C>T (p.Arg2283Trp)
|
rs150117913
|
0.00001
|
NM_001081.4(CUBN):c.7069T>C (p.Tyr2357His)
|
rs376122892
|
0.00001
|
NM_001081.4(CUBN):c.7070A>C (p.Tyr2357Ser)
|
rs886046870
|
0.00001
|
NM_001081.4(CUBN):c.7084T>A (p.Phe2362Ile)
|
rs757192279
|
0.00001
|
NM_001081.4(CUBN):c.7331G>A (p.Arg2444Gln)
|
rs11254274
|
0.00001
|
NM_001081.4(CUBN):c.7363G>T (p.Asp2455Tyr)
|
rs761577575
|
0.00001
|
NM_001081.4(CUBN):c.7378A>G (p.Ile2460Val)
|
rs565917798
|
0.00001
|
NM_001081.4(CUBN):c.7533A>C (p.Ile2511=)
|
rs748416223
|
0.00001
|
NM_001081.4(CUBN):c.8095G>A (p.Val2699Met)
|
rs535261179
|
0.00001
|
NM_001081.4(CUBN):c.8222C>A (p.Thr2741Asn)
|
rs771697506
|
0.00001
|
NM_001081.4(CUBN):c.8479G>A (p.Glu2827Lys)
|
rs373893072
|
0.00001
|
NM_001081.4(CUBN):c.8566G>A (p.Gly2856Ser)
|
rs371139445
|
0.00001
|
NM_001081.4(CUBN):c.8656G>A (p.Val2886Met)
|
rs200235278
|
0.00001
|
NM_001081.4(CUBN):c.8908C>T (p.Arg2970Cys)
|
rs562374248
|
0.00001
|
NM_001081.4(CUBN):c.8943C>T (p.Gly2981=)
|
rs767131065
|
0.00001
|
NM_001081.4(CUBN):c.9037G>T (p.Val3013Phe)
|
rs1241849194
|
0.00001
|
NM_001081.4(CUBN):c.9228C>T (p.Ile3076=)
|
rs976401499
|
0.00001
|
NM_001081.4(CUBN):c.9527A>G (p.Asn3176Ser)
|
rs750045664
|
0.00001
|
NM_001081.4(CUBN):c.9618G>A (p.Leu3206=)
|
rs559567467
|
0.00001
|
NM_001102564.3(IFT43):c.176G>A (p.Arg59Gln)
|
rs756786140
|
0.00001
|
NM_001102564.3(IFT43):c.296-5697G>A
|
rs756700836
|
0.00001
|
NM_001102564.3(IFT43):c.31C>T (p.Leu11Phe)
|
rs756188997
|
0.00001
|
NM_001102564.3(IFT43):c.34C>T (p.Arg12Cys)
|
rs749145719
|
0.00001
|
NM_001102564.3(IFT43):c.361C>T (p.Pro121Ser)
|
rs1359937590
|
0.00001
|
NM_001102564.3(IFT43):c.469C>A (p.Leu157Ile)
|
rs1414874776
|
0.00001
|
NM_001102564.3(IFT43):c.485C>T (p.Ala162Val)
|
rs371422510
|
0.00001
|
NM_001102564.3(IFT43):c.498A>T (p.Glu166Asp)
|
rs141866033
|
0.00001
|
NM_001102564.3(IFT43):c.540C>A (p.Phe180Leu)
|
rs894168247
|
0.00001
|
NM_001102564.3(IFT43):c.605C>T (p.Ala202Val)
|
rs764790125
|
0.00001
|
NM_001127222.2(CACNA1A):c.1141C>T (p.Arg381Trp)
|
rs773593740
|
0.00001
|
NM_001127222.2(CACNA1A):c.1169A>G (p.Asn390Ser)
|
rs1064795477
|
0.00001
|
NM_001127222.2(CACNA1A):c.1171G>A (p.Gly391Arg)
|
rs749309558
|
0.00001
|
NM_001127222.2(CACNA1A):c.1189T>G (p.Ser397Ala)
|
rs745753973
|
0.00001
|
NM_001127222.2(CACNA1A):c.1213G>A (p.Ala405Thr)
|
rs121908245
|
0.00001
|
NM_001127222.2(CACNA1A):c.1231G>A (p.Gly411Arg)
|
rs1448345243
|
0.00001
|
NM_001127222.2(CACNA1A):c.1261C>T (p.Arg421Trp)
|
rs1208991974
|
0.00001
|
NM_001127222.2(CACNA1A):c.1291G>A (p.Asp431Asn)
|
rs1600346973
|
0.00001
|
NM_001127222.2(CACNA1A):c.1303C>T (p.Pro435Ser)
|
rs1426869372
|
0.00001
|
NM_001127222.2(CACNA1A):c.130G>A (p.Ala44Thr)
|
rs201398669
|
0.00001
|
NM_001127222.2(CACNA1A):c.1333A>G (p.Ile445Val)
|
rs1188726884
|
0.00001
|
NM_001127222.2(CACNA1A):c.1377T>G (p.Ser459Arg)
|
rs769335170
|
0.00001
|
NM_001127222.2(CACNA1A):c.1393T>G (p.Ser465Ala)
|
rs1195950626
|
0.00001
|
NM_001127222.2(CACNA1A):c.1427G>A (p.Arg476His)
|
rs755107633
|
0.00001
|
NM_001127222.2(CACNA1A):c.1439G>A (p.Arg480His)
|
rs761827501
|
0.00001
|
NM_001127222.2(CACNA1A):c.1441C>T (p.Arg481Cys)
|
rs377011125
|
0.00001
|
NM_001127222.2(CACNA1A):c.1559A>G (p.Tyr520Cys)
|
rs886039322
|
0.00001
|
NM_001127222.2(CACNA1A):c.1611G>T (p.Met537Ile)
|
rs752572390
|
0.00001
|
NM_001127222.2(CACNA1A):c.1676T>C (p.Ile559Thr)
|
rs767207007
|
0.00001
|
NM_001127222.2(CACNA1A):c.1782-5G>A
|
rs1085307739
|
0.00001
|
NM_001127222.2(CACNA1A):c.1782G>A (p.Lys594=)
|
rs756972061
|
0.00001
|
NM_001127222.2(CACNA1A):c.1810G>A (p.Val604Ile)
|
rs756562814
|
0.00001
|
NM_001127222.2(CACNA1A):c.1906G>A (p.Gly636Ser)
|
rs943419160
|
0.00001
|
NM_001127222.2(CACNA1A):c.2062G>T (p.Val688Leu)
|
rs762530372
|
0.00001
|
NM_001127222.2(CACNA1A):c.2072T>C (p.Ile691Thr)
|
rs775081414
|
0.00001
|
NM_001127222.2(CACNA1A):c.2155G>A (p.Ala719Thr)
|
rs1201483107
|
0.00001
|
NM_001127222.2(CACNA1A):c.2258C>T (p.Ala753Val)
|
rs200355966
|
0.00001
|
NM_001127222.2(CACNA1A):c.2281A>G (p.Lys761Glu)
|
rs1196111017
|
0.00001
|
NM_001127222.2(CACNA1A):c.2287C>A (p.Gln763Lys)
|
rs2057741441
|
0.00001
|
NM_001127222.2(CACNA1A):c.2404C>A (p.Arg802Ser)
|
rs760816963
|
0.00001
|
NM_001127222.2(CACNA1A):c.2435G>A (p.Arg812Gln)
|
rs953797733
|
0.00001
|
NM_001127222.2(CACNA1A):c.2490C>G (p.Asn830Lys)
|
rs1248783281
|
0.00001
|
NM_001127222.2(CACNA1A):c.2491C>T (p.Arg831Cys)
|
rs1464680327
|
0.00001
|
NM_001127222.2(CACNA1A):c.2521G>T (p.Ala841Ser)
|
rs1057522204
|
0.00001
|
NM_001127222.2(CACNA1A):c.2606G>A (p.Arg869Gln)
|
rs1057518589
|
0.00001
|
NM_001127222.2(CACNA1A):c.2612C>A (p.Pro871His)
|
rs1178583020
|
0.00001
|
NM_001127222.2(CACNA1A):c.2620T>G (p.Ser874Ala)
|
rs751675055
|
0.00001
|
NM_001127222.2(CACNA1A):c.2624C>T (p.Ala875Val)
|
rs1309338929
|
0.00001
|
NM_001127222.2(CACNA1A):c.2638C>T (p.Arg880Trp)
|
rs1408152396
|
0.00001
|
NM_001127222.2(CACNA1A):c.2669A>G (p.Glu890Gly)
|
rs2057731758
|
0.00001
|
NM_001127222.2(CACNA1A):c.26C>T (p.Pro9Leu)
|
rs1487101039
|
0.00001
|
NM_001127222.2(CACNA1A):c.2717G>A (p.Arg906Gln)
|
rs776495488
|
0.00001
|
NM_001127222.2(CACNA1A):c.2774C>T (p.Ala925Val)
|
rs765345767
|
0.00001
|
NM_001127222.2(CACNA1A):c.2797G>A (p.Val933Met)
|
rs767187794
|
0.00001
|
NM_001127222.2(CACNA1A):c.2818A>G (p.Arg940Gly)
|
rs778220824
|
0.00001
|
NM_001127222.2(CACNA1A):c.2827C>T (p.Arg943Cys)
|
rs754979047
|
0.00001
|
NM_001127222.2(CACNA1A):c.2833G>A (p.Gly945Arg)
|
rs527593196
|
0.00001
|
NM_001127222.2(CACNA1A):c.2842C>T (p.Arg948Cys)
|
rs16978975
|
0.00001
|
NM_001127222.2(CACNA1A):c.2852C>T (p.Ala951Val)
|
rs1442995931
|
0.00001
|
NM_001127222.2(CACNA1A):c.2882A>C (p.His961Pro)
|
rs1316264115
|
0.00001
|
NM_001127222.2(CACNA1A):c.2884C>T (p.Arg962Cys)
|
rs532842904
|
0.00001
|
NM_001127222.2(CACNA1A):c.2932C>T (p.Arg978Trp)
|
rs1361244265
|
0.00001
|
NM_001127222.2(CACNA1A):c.294-4A>G
|
rs1400044284
|
0.00001
|
NM_001127222.2(CACNA1A):c.2971G>A (p.Gly991Ser)
|
rs2057722310
|
0.00001
|
NM_001127222.2(CACNA1A):c.2972G>T (p.Gly991Val)
|
rs2057722221
|
0.00001
|
NM_001127222.2(CACNA1A):c.2992G>A (p.Gly998Arg)
|
rs781006387
|
0.00001
|
NM_001127222.2(CACNA1A):c.3002G>C (p.Arg1001Pro)
|
rs1424294725
|
0.00001
|
NM_001127222.2(CACNA1A):c.3052C>T (p.Arg1018Trp)
|
rs772611976
|
0.00001
|
NM_001127222.2(CACNA1A):c.3071G>A (p.Arg1024Gln)
|
rs1458500776
|
0.00001
|
NM_001127222.2(CACNA1A):c.3170A>C (p.Gln1057Pro)
|
rs1273138619
|
0.00001
|
NM_001127222.2(CACNA1A):c.3262G>A (p.Ala1088Thr)
|
rs371820430
|
0.00001
|
NM_001127222.2(CACNA1A):c.3331G>T (p.Ala1111Ser)
|
rs1215692574
|
0.00001
|
NM_001127222.2(CACNA1A):c.3364C>T (p.Arg1122Cys)
|
rs774407963
|
0.00001
|
NM_001127222.2(CACNA1A):c.3371C>T (p.Thr1124Met)
|
rs374720207
|
0.00001
|
NM_001127222.2(CACNA1A):c.3377A>G (p.Asn1126Ser)
|
rs755440575
|
0.00001
|
NM_001127222.2(CACNA1A):c.337A>G (p.Ile113Val)
|
rs746955115
|
0.00001
|
NM_001127222.2(CACNA1A):c.3479C>T (p.Ala1160Val)
|
rs766027931
|
0.00001
|
NM_001127222.2(CACNA1A):c.3481A>G (p.Arg1161Gly)
|
rs760265407
|
0.00001
|
NM_001127222.2(CACNA1A):c.3515C>G (p.Pro1172Arg)
|
rs16028
|
0.00001
|
NM_001127222.2(CACNA1A):c.3542C>G (p.Thr1181Ser)
|
rs1250790986
|
0.00001
|
NM_001127222.2(CACNA1A):c.3629G>A (p.Gly1210Glu)
|
rs763558455
|
0.00001
|
NM_001127222.2(CACNA1A):c.3650T>A (p.Met1217Lys)
|
rs761983146
|
0.00001
|
NM_001127222.2(CACNA1A):c.3656C>T (p.Pro1219Leu)
|
rs573365997
|
0.00001
|
NM_001127222.2(CACNA1A):c.3715A>G (p.Ile1239Val)
|
rs375903481
|
0.00001
|
NM_001127222.2(CACNA1A):c.37G>A (p.Gly13Arg)
|
rs1202097056
|
0.00001
|
NM_001127222.2(CACNA1A):c.3803C>T (p.Pro1268Leu)
|
rs1057522815
|
0.00001
|
NM_001127222.2(CACNA1A):c.3814C>T (p.Arg1272Trp)
|
rs372970430
|
0.00001
|
NM_001127222.2(CACNA1A):c.3830G>A (p.Arg1277Gln)
|
rs372344357
|
0.00001
|
NM_001127222.2(CACNA1A):c.3961A>G (p.Ser1321Gly)
|
rs2057136011
|
0.00001
|
NM_001127222.2(CACNA1A):c.399+3G>A
|
rs1275496281
|
0.00001
|
NM_001127222.2(CACNA1A):c.4462A>T (p.Ile1488Phe)
|
rs2056601798
|
0.00001
|
NM_001127222.2(CACNA1A):c.4474G>A (p.Val1492Ile)
|
rs121908234
|
0.00001
|
NM_001127222.2(CACNA1A):c.4516G>T (p.Val1506Leu)
|
rs1322080885
|
0.00001
|
NM_001127222.2(CACNA1A):c.458T>C (p.Ile153Thr)
|
rs369134549
|
0.00001
|
NM_001127222.2(CACNA1A):c.4601T>C (p.Ile1534Thr)
|
rs1004488897
|
0.00001
|
NM_001127222.2(CACNA1A):c.4618G>A (p.Ala1540Thr)
|
rs761579946
|
0.00001
|
NM_001127222.2(CACNA1A):c.4670G>A (p.Arg1557His)
|
rs755172189
|
0.00001
|
NM_001127222.2(CACNA1A):c.4693C>T (p.Pro1565Ser)
|
rs1353824164
|
0.00001
|
NM_001127222.2(CACNA1A):c.4786G>A (p.Ala1596Thr)
|
rs769043258
|
0.00001
|
NM_001127222.2(CACNA1A):c.4850T>C (p.Met1617Thr)
|
rs1469756019
|
0.00001
|
NM_001127222.2(CACNA1A):c.4866+6T>A
|
rs757178835
|
0.00001
|
NM_001127222.2(CACNA1A):c.4876C>T (p.Arg1626Cys)
|
rs747020168
|
0.00001
|
NM_001127222.2(CACNA1A):c.4877G>A (p.Arg1626His)
|
rs777769751
|
0.00001
|
NM_001127222.2(CACNA1A):c.4931T>C (p.Ile1644Thr)
|
rs2056194193
|
0.00001
|
NM_001127222.2(CACNA1A):c.5015G>A (p.Arg1672His)
|
rs1057519429
|
0.00001
|
NM_001127222.2(CACNA1A):c.5134-3C>T
|
rs576141199
|
0.00001
|
NM_001127222.2(CACNA1A):c.5174G>A (p.Ser1725Asn)
|
rs766254024
|
0.00001
|
NM_001127222.2(CACNA1A):c.5200G>A (p.Glu1734Lys)
|
rs1064795744
|
0.00001
|
NM_001127222.2(CACNA1A):c.536C>T (p.Thr179Met)
|
rs773461333
|
0.00001
|
NM_001127222.2(CACNA1A):c.5529-1268C>T
|
rs765557914
|
0.00001
|
NM_001127222.2(CACNA1A):c.5626-3T>C
|
rs2055372579
|
0.00001
|
NM_001127222.2(CACNA1A):c.5635C>T (p.Arg1879Trp)
|
rs746460335
|
0.00001
|
NM_001127222.2(CACNA1A):c.5734G>A (p.Gly1912Arg)
|
rs966699696
|
0.00001
|
NM_001127222.2(CACNA1A):c.574C>T (p.Arg192Trp)
|
rs1057518779
|
0.00001
|
NM_001127222.2(CACNA1A):c.578C>T (p.Thr193Met)
|
rs1365721398
|
0.00001
|
NM_001127222.2(CACNA1A):c.5801C>G (p.Ser1934Cys)
|
rs375365071
|
0.00001
|
NM_001127222.2(CACNA1A):c.5843C>T (p.Thr1948Met)
|
rs748279762
|
0.00001
|
NM_001127222.2(CACNA1A):c.5854G>A (p.Val1952Met)
|
rs749251058
|
0.00001
|
NM_001127222.2(CACNA1A):c.5966G>A (p.Arg1989His)
|
rs1178337230
|
0.00001
|
NM_001127222.2(CACNA1A):c.5999G>C (p.Gly2000Ala)
|
rs1303685302
|
0.00001
|
NM_001127222.2(CACNA1A):c.6005G>A (p.Gly2002Asp)
|
rs1402384624
|
0.00001
|
NM_001127222.2(CACNA1A):c.6017T>G (p.Leu2006Arg)
|
rs759624463
|
0.00001
|
NM_001127222.2(CACNA1A):c.6050T>C (p.Leu2017Pro)
|
rs774375692
|
0.00001
|
NM_001127222.2(CACNA1A):c.6055G>T (p.Ala2019Ser)
|
rs1393616835
|
0.00001
|
NM_001127222.2(CACNA1A):c.6128G>A (p.Gly2043Asp)
|
rs765421252
|
0.00001
|
NM_001127222.2(CACNA1A):c.6190-8C>G
|
rs762766173
|
0.00001
|
NM_001127222.2(CACNA1A):c.6211G>A (p.Gly2071Ser)
|
rs370514102
|
0.00001
|
NM_001127222.2(CACNA1A):c.6217G>A (p.Asp2073Asn)
|
rs1057524336
|
0.00001
|
NM_001127222.2(CACNA1A):c.6241T>C (p.Tyr2081His)
|
rs1174830824
|
0.00001
|
NM_001127222.2(CACNA1A):c.6262G>A (p.Gly2088Ser)
|
rs1259126760
|
0.00001
|
NM_001127222.2(CACNA1A):c.6281C>T (p.Pro2094Leu)
|
rs769128653
|
0.00001
|
NM_001127222.2(CACNA1A):c.6304-3C>T
|
rs1354563230
|
0.00001
|
NM_001127222.2(CACNA1A):c.6313G>A (p.Gly2105Ser)
|
rs1376625416
|
0.00001
|
NM_001127222.2(CACNA1A):c.6326G>A (p.Gly2109Glu)
|
rs868808043
|
0.00001
|
NM_001127222.2(CACNA1A):c.636A>G (p.Leu212=)
|
rs765072424
|
0.00001
|
NM_001127222.2(CACNA1A):c.6401G>A (p.Arg2134His)
|
rs749172043
|
0.00001
|
NM_001127222.2(CACNA1A):c.6431C>T (p.Pro2144Leu)
|
rs750077868
|
0.00001
|
NM_001127222.2(CACNA1A):c.6436G>A (p.Glu2146Lys)
|
rs371984902
|
0.00001
|
NM_001127222.2(CACNA1A):c.6444C>A (p.Asn2148Lys)
|
rs780779363
|
0.00001
|
NM_001127222.2(CACNA1A):c.6456C>A (p.His2152Gln)
|
rs759949928
|
0.00001
|
NM_001127222.2(CACNA1A):c.6458A>G (p.Gln2153Arg)
|
rs1242460645
|
0.00001
|
NM_001127222.2(CACNA1A):c.6493C>T (p.Arg2165Cys)
|
rs746582303
|
0.00001
|
NM_001127222.2(CACNA1A):c.6526+6C>T
|
rs1366998583
|
0.00001
|
NM_001127222.2(CACNA1A):c.6532G>A (p.Gly2178Arg)
|
rs953871050
|
0.00001
|
NM_001127222.2(CACNA1A):c.6549G>A (p.Met2183Ile)
|
rs1335828021
|
0.00001
|
NM_001127222.2(CACNA1A):c.6562G>A (p.Gly2188Arg)
|
rs965819293
|
0.00001
|
NM_001127222.2(CACNA1A):c.6595C>T (p.Arg2199Trp)
|
rs1477386827
|
0.00001
|
NM_001127222.2(CACNA1A):c.6596G>A (p.Arg2199Gln)
|
rs1326871701
|
0.00001
|
NM_001127222.2(CACNA1A):c.6608A>G (p.Lys2203Arg)
|
rs1057521770
|
0.00001
|
NM_001127222.2(CACNA1A):c.6617A>G (p.Lys2206Arg)
|
rs1444251671
|
0.00001
|
NM_001127222.2(CACNA1A):c.6629A>G (p.His2210Arg)
|
rs1002423867
|
0.00001
|
NM_001127222.2(CACNA1A):c.6679C>T (p.Arg2227Cys)
|
rs757715357
|
0.00001
|
NM_001127222.2(CACNA1A):c.6685G>A (p.Ala2229Thr)
|
rs2054683125
|
0.00001
|
NM_001127222.2(CACNA1A):c.6709C>T (p.Arg2237Trp)
|
rs1415336869
|
0.00001
|
NM_001127222.2(CACNA1A):c.6740G>A (p.Arg2247His)
|
rs1219651327
|
0.00001
|
NM_001127222.2(CACNA1A):c.6743C>T (p.Ser2248Leu)
|
rs1274796380
|
0.00001
|
NM_001127222.2(CACNA1A):c.6754G>A (p.Gly2252Ser)
|
rs1433873178
|
0.00001
|
NM_001127222.2(CACNA1A):c.6757C>T (p.Arg2253Ter)
|
rs1166102159
|
0.00001
|
NM_001127222.2(CACNA1A):c.6769G>A (p.Ala2257Thr)
|
rs1057523197
|
0.00001
|
NM_001127222.2(CACNA1A):c.6776G>A (p.Arg2259Gln)
|
rs201582095
|
0.00001
|
NM_001127222.2(CACNA1A):c.761C>A (p.Thr254Asn)
|
rs1599292361
|
0.00001
|
NM_001127222.2(CACNA1A):c.7C>T (p.Arg3Cys)
|
rs1326606155
|
0.00001
|
NM_001127222.2(CACNA1A):c.821C>T (p.Thr274Ile)
|
rs1250942113
|
0.00001
|
NM_001127222.2(CACNA1A):c.839C>T (p.Thr280Ile)
|
rs1195270312
|
0.00001
|
NM_001127222.2(CACNA1A):c.848A>G (p.Asn283Ser)
|
rs1212952550
|
0.00001
|
NM_001142800.2(EYS):c.-277C>G
|
rs1379087184
|
0.00001
|
NM_001142800.2(EYS):c.-495T>C
|
rs886061688
|
0.00001
|
NM_001142800.2(EYS):c.1005G>T (p.Glu335Asp)
|
rs80095433
|
0.00001
|
NM_001142800.2(EYS):c.1247G>A (p.Ser416Asn)
|
rs761318837
|
0.00001
|
NM_001142800.2(EYS):c.1321A>C (p.Thr441Pro)
|
rs1308471912
|
0.00001
|
NM_001142800.2(EYS):c.1381T>A (p.Cys461Ser)
|
rs1471424153
|
0.00001
|
NM_001142800.2(EYS):c.1439T>G (p.Val480Gly)
|
rs1163522025
|
0.00001
|
NM_001142800.2(EYS):c.152T>C (p.Leu51Ser)
|
rs1489559245
|
0.00001
|
NM_001142800.2(EYS):c.1568C>T (p.Ser523Leu)
|
rs556989074
|
0.00001
|
NM_001142800.2(EYS):c.1591A>C (p.Thr531Pro)
|
rs1260633321
|
0.00001
|
NM_001142800.2(EYS):c.1655A>T (p.Tyr552Phe)
|
rs369437226
|
0.00001
|
NM_001142800.2(EYS):c.1811A>G (p.Asn604Ser)
|
rs1274107268
|
0.00001
|
NM_001142800.2(EYS):c.1871C>T (p.Ser624Leu)
|
rs548565748
|
0.00001
|
NM_001142800.2(EYS):c.2023+5G>A
|
rs1287889008
|
0.00001
|
NM_001142800.2(EYS):c.2260-2dup
|
rs1554220492
|
0.00001
|
NM_001142800.2(EYS):c.2269T>C (p.Cys757Arg)
|
rs1051101987
|
0.00001
|
NM_001142800.2(EYS):c.2287T>C (p.Trp763Arg)
|
rs886061684
|
0.00001
|
NM_001142800.2(EYS):c.2378A>G (p.Tyr793Cys)
|
rs1248002900
|
0.00001
|
NM_001142800.2(EYS):c.2423A>C (p.Glu808Ala)
|
rs1329809440
|
0.00001
|
NM_001142800.2(EYS):c.2495A>G (p.Gln832Arg)
|
rs1459583624
|
0.00001
|
NM_001142800.2(EYS):c.2622G>T (p.Gln874His)
|
rs377592930
|
0.00001
|
NM_001142800.2(EYS):c.2641+8C>A
|
rs886061683
|
0.00001
|
NM_001142800.2(EYS):c.2644T>C (p.Phe882Leu)
|
rs759172997
|
0.00001
|
NM_001142800.2(EYS):c.2662G>A (p.Glu888Lys)
|
rs1345091519
|
0.00001
|
NM_001142800.2(EYS):c.2892A>C (p.Glu964Asp)
|
rs762212630
|
0.00001
|
NM_001142800.2(EYS):c.2898T>G (p.Asp966Glu)
|
rs1248778370
|
0.00001
|
NM_001142800.2(EYS):c.2936A>C (p.Glu979Ala)
|
rs372948826
|
0.00001
|
NM_001142800.2(EYS):c.2944G>T (p.Val982Phe)
|
rs1347071957
|
0.00001
|
NM_001142800.2(EYS):c.3069C>G (p.Ile1023Met)
|
rs913116063
|
0.00001
|
NM_001142800.2(EYS):c.3083G>C (p.Cys1028Ser)
|
rs1407301072
|
0.00001
|
NM_001142800.2(EYS):c.3293C>A (p.Ala1098Glu)
|
rs561156283
|
0.00001
|
NM_001142800.2(EYS):c.3542A>G (p.Asn1181Ser)
|
rs1767601964
|
0.00001
|
NM_001142800.2(EYS):c.360G>A (p.Thr120=)
|
rs745859722
|
0.00001
|
NM_001142800.2(EYS):c.3688T>A (p.Cys1230Ser)
|
rs1258171232
|
0.00001
|
NM_001142800.2(EYS):c.3731C>T (p.Thr1244Ile)
|
rs531860176
|
0.00001
|
NM_001142800.2(EYS):c.3877+6T>C
|
rs937888425
|
0.00001
|
NM_001142800.2(EYS):c.3922A>G (p.Thr1308Ala)
|
rs1223693086
|
0.00001
|
NM_001142800.2(EYS):c.3941G>A (p.Arg1314Lys)
|
rs1330067403
|
0.00001
|
NM_001142800.2(EYS):c.3972C>T (p.Leu1324=)
|
rs202130794
|
0.00001
|
NM_001142800.2(EYS):c.4052T>G (p.Leu1351Arg)
|
rs759027016
|
0.00001
|
NM_001142800.2(EYS):c.4099T>C (p.Ser1367Pro)
|
rs1285964857
|
0.00001
|
NM_001142800.2(EYS):c.4190C>A (p.Ser1397Tyr)
|
rs892657143
|
0.00001
|
NM_001142800.2(EYS):c.41T>C (p.Phe14Ser)
|
rs767517924
|
0.00001
|
NM_001142800.2(EYS):c.4216A>G (p.Thr1406Ala)
|
rs866402714
|
0.00001
|
NM_001142800.2(EYS):c.4339G>C (p.Gly1447Arg)
|
rs1459655912
|
0.00001
|
NM_001142800.2(EYS):c.4432A>G (p.Ile1478Val)
|
rs968087660
|
0.00001
|
NM_001142800.2(EYS):c.4440A>G (p.Arg1480=)
|
rs886061675
|
0.00001
|
NM_001142800.2(EYS):c.4503A>G (p.Ile1501Met)
|
rs765829827
|
0.00001
|
NM_001142800.2(EYS):c.4718A>C (p.Gln1573Pro)
|
rs1248199893
|
0.00001
|
NM_001142800.2(EYS):c.47G>T (p.Ser16Ile)
|
rs755010017
|
0.00001
|
NM_001142800.2(EYS):c.4805C>T (p.Ala1602Val)
|
rs1353073807
|
0.00001
|
NM_001142800.2(EYS):c.4841C>G (p.Ala1614Gly)
|
rs1312195779
|
0.00001
|
NM_001142800.2(EYS):c.4843A>G (p.Thr1615Ala)
|
rs566502407
|
0.00001
|
NM_001142800.2(EYS):c.487C>T (p.Leu163Phe)
|
rs144074328
|
0.00001
|
NM_001142800.2(EYS):c.4964T>C (p.Leu1655Ser)
|
rs765407986
|
0.00001
|
NM_001142800.2(EYS):c.5100A>T (p.Lys1700Asn)
|
rs1267480820
|
0.00001
|
NM_001142800.2(EYS):c.5264A>T (p.Asp1755Val)
|
rs1185867411
|
0.00001
|
NM_001142800.2(EYS):c.5279C>G (p.Thr1760Arg)
|
rs1423659317
|
0.00001
|
NM_001142800.2(EYS):c.5395A>G (p.Thr1799Ala)
|
rs144694451
|
0.00001
|
NM_001142800.2(EYS):c.5618T>G (p.Leu1873Arg)
|
rs750613634
|
0.00001
|
NM_001142800.2(EYS):c.5644+5G>A
|
rs794727412
|
0.00001
|
NM_001142800.2(EYS):c.5644+7T>G
|
rs539437238
|
0.00001
|
NM_001142800.2(EYS):c.5681T>C (p.Leu1894Pro)
|
rs780566602
|
0.00001
|
NM_001142800.2(EYS):c.5755C>T (p.Leu1919Phe)
|
rs1275377315
|
0.00001
|
NM_001142800.2(EYS):c.5836-3C>T
|
rs748977292
|
0.00001
|
NM_001142800.2(EYS):c.583A>C (p.Ser195Arg)
|
rs753945993
|
0.00001
|
NM_001142800.2(EYS):c.592T>A (p.Tyr198Asn)
|
rs886061686
|
0.00001
|
NM_001142800.2(EYS):c.5935T>C (p.Leu1979=)
|
rs962496239
|
0.00001
|
NM_001142800.2(EYS):c.5953G>A (p.Glu1985Lys)
|
rs1196390028
|
0.00001
|
NM_001142800.2(EYS):c.5959A>C (p.Thr1987Pro)
|
rs1278246029
|
0.00001
|
NM_001142800.2(EYS):c.5975A>G (p.Asn1992Ser)
|
rs762475623
|
0.00001
|
NM_001142800.2(EYS):c.6025A>G (p.Lys2009Glu)
|
rs559078881
|
0.00001
|
NM_001142800.2(EYS):c.6047G>A (p.Gly2016Asp)
|
rs886061672
|
0.00001
|
NM_001142800.2(EYS):c.6104C>A (p.Thr2035Asn)
|
rs1769478067
|
0.00001
|
NM_001142800.2(EYS):c.6316G>T (p.Asp2106Tyr)
|
rs369266984
|
0.00001
|
NM_001142800.2(EYS):c.6446C>A (p.Ser2149Tyr)
|
rs537922564
|
0.00001
|
NM_001142800.2(EYS):c.6485A>C (p.Lys2162Thr)
|
rs1039415909
|
0.00001
|
NM_001142800.2(EYS):c.6485A>T (p.Lys2162Met)
|
rs1039415909
|
0.00001
|
NM_001142800.2(EYS):c.6626G>A (p.Arg2209Lys)
|
rs761797334
|
0.00001
|
NM_001142800.2(EYS):c.6696C>A (p.Asn2232Lys)
|
rs946318214
|
0.00001
|
NM_001142800.2(EYS):c.6724C>T (p.Arg2242Cys)
|
rs990350691
|
0.00001
|
NM_001142800.2(EYS):c.6725+9T>C
|
rs886061671
|
0.00001
|
NM_001142800.2(EYS):c.6782A>G (p.Asp2261Gly)
|
rs893275648
|
0.00001
|
NM_001142800.2(EYS):c.6824A>G (p.His2275Arg)
|
rs765650947
|
0.00001
|
NM_001142800.2(EYS):c.6850A>G (p.Met2284Val)
|
rs1767268298
|
0.00001
|
NM_001142800.2(EYS):c.6911G>A (p.Gly2304Glu)
|
rs773046364
|
0.00001
|
NM_001142800.2(EYS):c.6929T>C (p.Leu2310Pro)
|
rs1253820214
|
0.00001
|
NM_001142800.2(EYS):c.6967G>A (p.Asp2323Asn)
|
rs747666847
|
0.00001
|
NM_001142800.2(EYS):c.7048T>C (p.Cys2350Arg)
|
rs935531910
|
0.00001
|
NM_001142800.2(EYS):c.7065A>C (p.Glu2355Asp)
|
rs749617474
|
0.00001
|
NM_001142800.2(EYS):c.7133A>G (p.Asn2378Ser)
|
rs1477495174
|
0.00001
|
NM_001142800.2(EYS):c.7222A>G (p.Thr2408Ala)
|
rs1418033120
|
0.00001
|
NM_001142800.2(EYS):c.7261A>C (p.Thr2421Pro)
|
rs886061669
|
0.00001
|
NM_001142800.2(EYS):c.7274G>A (p.Gly2425Glu)
|
rs1201593554
|
0.00001
|
NM_001142800.2(EYS):c.7300C>T (p.Arg2434Trp)
|
rs1234060098
|
0.00001
|
NM_001142800.2(EYS):c.7356C>A (p.Asn2452Lys)
|
rs566843175
|
0.00001
|
NM_001142800.2(EYS):c.7471T>G (p.Tyr2491Asp)
|
rs1306301546
|
0.00001
|
NM_001142800.2(EYS):c.7591A>G (p.Lys2531Glu)
|
rs1037212478
|
0.00001
|
NM_001142800.2(EYS):c.7723+6G>A
|
rs773926989
|
0.00001
|
NM_001142800.2(EYS):c.7851G>T (p.Met2617Ile)
|
rs1012336027
|
0.00001
|
NM_001142800.2(EYS):c.7861A>G (p.Asn2621Asp)
|
rs1193588140
|
0.00001
|
NM_001142800.2(EYS):c.7868G>A (p.Gly2623Glu)
|
rs559824825
|
0.00001
|
NM_001142800.2(EYS):c.7873T>C (p.Cys2625Arg)
|
rs751128329
|
0.00001
|
NM_001142800.2(EYS):c.8088T>A (p.Asp2696Glu)
|
rs780632755
|
0.00001
|
NM_001142800.2(EYS):c.812G>A (p.Ser271Asn)
|
rs1390616909
|
0.00001
|
NM_001142800.2(EYS):c.8206G>C (p.Ala2736Pro)
|
rs1250317776
|
0.00001
|
NM_001142800.2(EYS):c.8233+8T>G
|
rs886061666
|
0.00001
|
NM_001142800.2(EYS):c.832T>C (p.Phe278Leu)
|
rs773704807
|
0.00001
|
NM_001142800.2(EYS):c.8414C>A (p.Thr2805Lys)
|
rs752557263
|
0.00001
|
NM_001142800.2(EYS):c.8468T>C (p.Ile2823Thr)
|
rs149686954
|
0.00001
|
NM_001142800.2(EYS):c.8499T>A (p.Asn2833Lys)
|
rs1420315601
|
0.00001
|
NM_001142800.2(EYS):c.853C>A (p.Gln285Lys)
|
rs988163418
|
0.00001
|
NM_001142800.2(EYS):c.867A>G (p.Pro289=)
|
rs746039939
|
0.00001
|
NM_001142800.2(EYS):c.8680G>A (p.Gly2894Ser)
|
rs971882330
|
0.00001
|
NM_001142800.2(EYS):c.8723A>G (p.Asn2908Ser)
|
rs761809527
|
0.00001
|
NM_001142800.2(EYS):c.8793A>G (p.Gln2931=)
|
rs1215751447
|
0.00001
|
NM_001142800.2(EYS):c.8851A>G (p.Lys2951Glu)
|
rs1186427936
|
0.00001
|
NM_001142800.2(EYS):c.8879T>C (p.Met2960Thr)
|
rs982064061
|
0.00001
|
NM_001142800.2(EYS):c.8946A>G (p.Ile2982Met)
|
rs1197940044
|
0.00001
|
NM_001142800.2(EYS):c.9060A>G (p.Ile3020Met)
|
rs898622662
|
0.00001
|
NM_001142800.2(EYS):c.9061G>C (p.Ala3021Pro)
|
rs569561277
|
0.00001
|
NM_001142800.2(EYS):c.9088G>A (p.Val3030Met)
|
rs940065327
|
0.00001
|
NM_001142800.2(EYS):c.9420A>C (p.Gln3140His)
|
rs898765917
|
0.00001
|
NM_001164665.2(KIAA1549):c.1070C>A (p.Thr357Lys)
|
rs117227363
|
0.00001
|
NM_001171613.2(PREPL):c.*608T>C
|
rs755700908
|
0.00001
|
NM_001171613.2(PREPL):c.*617A>G
|
rs886056074
|
0.00001
|
NM_001201543.2(FAM161A):c.*68G>A
|
rs765002648
|
0.00001
|
NM_001201543.2(FAM161A):c.1012C>T (p.Arg338Trp)
|
rs1382874045
|
0.00001
|
NM_001201543.2(FAM161A):c.1018A>G (p.Lys340Glu)
|
rs569307291
|
0.00001
|
NM_001201543.2(FAM161A):c.1064T>G (p.Phe355Cys)
|
rs1236579870
|
0.00001
|
NM_001201543.2(FAM161A):c.1111G>T (p.Asp371Tyr)
|
rs752075492
|
0.00001
|
NM_001201543.2(FAM161A):c.1136A>G (p.Tyr379Cys)
|
rs775782170
|
0.00001
|
NM_001201543.2(FAM161A):c.1328C>T (p.Ser443Leu)
|
rs189711603
|
0.00001
|
NM_001201543.2(FAM161A):c.1356A>G (p.Thr452=)
|
rs760376720
|
0.00001
|
NM_001201543.2(FAM161A):c.1462T>G (p.Trp488Gly)
|
rs767214705
|
0.00001
|
NM_001201543.2(FAM161A):c.1483C>T (p.Arg495Cys)
|
rs759263986
|
0.00001
|
NM_001201543.2(FAM161A):c.1576G>A (p.Ala526Thr)
|
rs768632779
|
0.00001
|
NM_001201543.2(FAM161A):c.161T>A (p.Val54Glu)
|
rs755697413
|
0.00001
|
NM_001201543.2(FAM161A):c.1684C>T (p.Arg562Trp)
|
rs758751186
|
0.00001
|
NM_001201543.2(FAM161A):c.1804G>A (p.Glu602Lys)
|
rs769359884
|
0.00001
|
NM_001201543.2(FAM161A):c.1821G>C (p.Lys607Asn)
|
rs777678039
|
0.00001
|
NM_001201543.2(FAM161A):c.182C>T (p.Ser61Leu)
|
rs374779101
|
0.00001
|
NM_001201543.2(FAM161A):c.1907G>A (p.Gly636Glu)
|
rs188276373
|
0.00001
|
NM_001201543.2(FAM161A):c.1967A>T (p.Asn656Ile)
|
rs770123645
|
0.00001
|
NM_001201543.2(FAM161A):c.1968_1969insTGA (p.Asn657Ter)
|
rs770515598
|
0.00001
|
NM_001201543.2(FAM161A):c.2016A>C (p.Glu672Asp)
|
rs368402244
|
0.00001
|
NM_001201543.2(FAM161A):c.252C>T (p.Asn84=)
|
rs561697683
|
0.00001
|
NM_001201543.2(FAM161A):c.337T>C (p.Leu113=)
|
rs757443871
|
0.00001
|
NM_001201543.2(FAM161A):c.422+3A>T
|
rs373374401
|
0.00001
|
NM_001201543.2(FAM161A):c.590A>G (p.Glu197Gly)
|
rs763593903
|
0.00001
|
NM_001201543.2(FAM161A):c.698T>C (p.Val233Ala)
|
rs553732379
|
0.00001
|
NM_001201543.2(FAM161A):c.746A>G (p.Gln249Arg)
|
rs192864749
|
0.00001
|
NM_001201543.2(FAM161A):c.775A>G (p.Lys259Glu)
|
rs1227350190
|
0.00001
|
NM_001242957.3(MAK):c.1143+6T>C
|
rs1394158081
|
0.00001
|
NM_001242957.3(MAK):c.1317-12T>C
|
rs756170824
|
0.00001
|
NM_001242957.3(MAK):c.1698C>A (p.Tyr566Ter)
|
rs186643840
|
0.00001
|
NM_001243279.3(ACSF3):c.1004T>A (p.Leu335Gln)
|
rs1358680743
|
0.00001
|
NM_001243279.3(ACSF3):c.1013C>T (p.Pro338Leu)
|
rs779630954
|
0.00001
|
NM_001243279.3(ACSF3):c.1087G>A (p.Ala363Thr)
|
rs1184733927
|
0.00001
|
NM_001243279.3(ACSF3):c.1096G>A (p.Gly366Arg)
|
rs142288136
|
0.00001
|
NM_001243279.3(ACSF3):c.1127-7C>G
|
rs761564953
|
0.00001
|
NM_001243279.3(ACSF3):c.119C>T (p.Ser40Leu)
|
rs747598756
|
0.00001
|
NM_001243279.3(ACSF3):c.1343C>G (p.Thr448Ser)
|
rs554194567
|
0.00001
|
NM_001243279.3(ACSF3):c.1366+8C>T
|
rs773327286
|
0.00001
|
NM_001243279.3(ACSF3):c.1412G>A (p.Arg471Gln)
|
rs387907119
|
0.00001
|
NM_001243279.3(ACSF3):c.1444T>C (p.Tyr482His)
|
rs776369896
|
0.00001
|
NM_001243279.3(ACSF3):c.1495A>C (p.Ile499Leu)
|
rs1272786593
|
0.00001
|
NM_001243279.3(ACSF3):c.1621C>T (p.Leu541=)
|
rs149803422
|
0.00001
|
NM_001243279.3(ACSF3):c.179T>G (p.Val60Gly)
|
rs780402535
|
0.00001
|
NM_001243279.3(ACSF3):c.190G>A (p.Gly64Ser)
|
rs200536797
|
0.00001
|
NM_001243279.3(ACSF3):c.221G>A (p.Arg74His)
|
rs750707295
|
0.00001
|
NM_001243279.3(ACSF3):c.356G>A (p.Gly119Asp)
|
rs754782061
|
0.00001
|
NM_001243279.3(ACSF3):c.357C>T (p.Gly119=)
|
rs182147718
|
0.00001
|
NM_001243279.3(ACSF3):c.365C>T (p.Ala122Val)
|
rs1441479986
|
0.00001
|
NM_001243279.3(ACSF3):c.431C>T (p.Ser144Phe)
|
rs774006659
|
0.00001
|
NM_001243279.3(ACSF3):c.436G>A (p.Val146Ile)
|
rs1184480709
|
0.00001
|
NM_001243279.3(ACSF3):c.507G>A (p.Pro169=)
|
rs775166866
|
0.00001
|
NM_001243279.3(ACSF3):c.589G>A (p.Ala197Thr)
|
rs761573352
|
0.00001
|
NM_001243279.3(ACSF3):c.673G>A (p.Gly225Arg)
|
rs775694971
|
0.00001
|
NM_001243279.3(ACSF3):c.701A>T (p.Lys234Ile)
|
rs763367217
|
0.00001
|
NM_001243279.3(ACSF3):c.788C>G (p.Thr263Ser)
|
rs1975498120
|
0.00001
|
NM_001243279.3(ACSF3):c.877G>A (p.Val293Met)
|
rs770598442
|
0.00001
|
NM_001256789.3(CACNA1F):c.3846C>T (p.Thr1282=)
|
rs782121738
|
0.00001
|
NM_001258392.3(CLPB):c.1003G>A (p.Glu335Lys)
|
rs765777645
|
0.00001
|
NM_001258392.3(CLPB):c.1123-3C>T
|
rs764474532
|
0.00001
|
NM_001258392.3(CLPB):c.1143G>A (p.Met381Ile)
|
rs786205137
|
0.00001
|
NM_001258392.3(CLPB):c.1167+6T>C
|
rs748976093
|
0.00001
|
NM_001258392.3(CLPB):c.1197C>T (p.Gly399=)
|
rs1363666590
|
0.00001
|
NM_001258392.3(CLPB):c.1228A>G (p.Thr410Ala)
|
rs1258428897
|
0.00001
|
NM_001258392.3(CLPB):c.1308C>G (p.Ile436Met)
|
rs140355579
|
0.00001
|
NM_001258392.3(CLPB):c.130G>A (p.Glu44Lys)
|
rs536485763
|
0.00001
|
NM_001258392.3(CLPB):c.1361T>C (p.Ile454Thr)
|
rs770073084
|
0.00001
|
NM_001258392.3(CLPB):c.1375G>A (p.Ala459Thr)
|
rs372344202
|
0.00001
|
NM_001258392.3(CLPB):c.1408G>A (p.Asp470Asn)
|
rs778269139
|
0.00001
|
NM_001258392.3(CLPB):c.1411G>A (p.Glu471Lys)
|
rs748915609
|
0.00001
|
NM_001258392.3(CLPB):c.1468C>T (p.Arg490Cys)
|
rs773040549
|
0.00001
|
NM_001258392.3(CLPB):c.1469G>A (p.Arg490His)
|
rs568455218
|
0.00001
|
NM_001258392.3(CLPB):c.1477G>A (p.Glu493Lys)
|
rs376835047
|
0.00001
|
NM_001258392.3(CLPB):c.1489G>T (p.Asp497Tyr)
|
rs918777173
|
0.00001
|
NM_001258392.3(CLPB):c.1606G>A (p.Val536Ile)
|
rs776356646
|
0.00001
|
NM_001258392.3(CLPB):c.1631C>T (p.Ser544Leu)
|
rs1430716011
|
0.00001
|
NM_001258392.3(CLPB):c.1672G>A (p.Ala558Thr)
|
rs780169796
|
0.00001
|
NM_001258392.3(CLPB):c.1717C>T (p.Arg573Cys)
|
rs186989806
|
0.00001
|
NM_001258392.3(CLPB):c.1744G>A (p.Gly582Ser)
|
rs747198658
|
0.00001
|
NM_001258392.3(CLPB):c.1765G>A (p.Ala589Thr)
|
rs1949500581
|
0.00001
|
NM_001258392.3(CLPB):c.1777A>C (p.Lys593Gln)
|
rs779976853
|
0.00001
|
NM_001258392.3(CLPB):c.1780C>T (p.His594Tyr)
|
rs1442380307
|
0.00001
|
NM_001258392.3(CLPB):c.1840C>G (p.Pro614Ala)
|
rs1331493457
|
0.00001
|
NM_001258392.3(CLPB):c.1844G>T (p.Gly615Val)
|
rs1247332355
|
0.00001
|
NM_001258392.3(CLPB):c.1937C>G (p.Pro646Arg)
|
rs201668123
|
0.00001
|
NM_001258392.3(CLPB):c.1969A>T (p.Ser657Cys)
|
rs1254521420
|
0.00001
|
NM_001258392.3(CLPB):c.229C>A (p.Arg77Ser)
|
rs567785578
|
0.00001
|
NM_001258392.3(CLPB):c.247C>T (p.Leu83Phe)
|
rs1590947700
|
0.00001
|
NM_001258392.3(CLPB):c.254C>T (p.Ala85Val)
|
rs751423546
|
0.00001
|
NM_001258392.3(CLPB):c.259A>T (p.Thr87Ser)
|
rs960976552
|
0.00001
|
NM_001258392.3(CLPB):c.269G>A (p.Arg90His)
|
rs762324677
|
0.00001
|
NM_001258392.3(CLPB):c.2T>C (p.Met1Thr)
|
rs369149141
|
0.00001
|
NM_001258392.3(CLPB):c.312G>C (p.Trp104Cys)
|
rs747589481
|
0.00001
|
NM_001258392.3(CLPB):c.356C>G (p.Ala119Gly)
|
rs1191592329
|
0.00001
|
NM_001258392.3(CLPB):c.359C>G (p.Ala120Gly)
|
rs1565107812
|
0.00001
|
NM_001258392.3(CLPB):c.367G>C (p.Val123Leu)
|
rs141495575
|
0.00001
|
NM_001258392.3(CLPB):c.38C>T (p.Ala13Val)
|
rs750927442
|
0.00001
|
NM_001258392.3(CLPB):c.409G>T (p.Ala137Ser)
|
rs1323542690
|
0.00001
|
NM_001258392.3(CLPB):c.456-3T>A
|
rs751918724
|
0.00001
|
NM_001258392.3(CLPB):c.638C>G (p.Ser213Cys)
|
rs767714428
|
0.00001
|
NM_001258392.3(CLPB):c.751A>G (p.Thr251Ala)
|
rs754211386
|
0.00001
|
NM_001258392.3(CLPB):c.757A>G (p.Lys253Glu)
|
rs766759416
|
0.00001
|
NM_001258392.3(CLPB):c.758A>G (p.Lys253Arg)
|
rs761122843
|
0.00001
|
NM_001258392.3(CLPB):c.776G>A (p.Gly259Glu)
|
rs543347319
|
0.00001
|
NM_001258392.3(CLPB):c.910C>T (p.Arg304Trp)
|
rs747344641
|
0.00001
|
NM_001258392.3(CLPB):c.916C>T (p.Arg306Cys)
|
rs1199370784
|
0.00001
|
NM_001258392.3(CLPB):c.935G>A (p.Arg312Gln)
|
rs751427024
|
0.00001
|
NM_001258392.3(CLPB):c.967G>A (p.Ala323Thr)
|
rs759050719
|
0.00001
|
NM_001271.4(CHD2):c.107A>T (p.Gln36Leu)
|
rs1064794584
|
0.00001
|
NM_001271.4(CHD2):c.1133A>T (p.Gln378Leu)
|
rs1249403093
|
0.00001
|
NM_001271.4(CHD2):c.11A>G (p.Asn4Ser)
|
rs2052524504
|
0.00001
|
NM_001271.4(CHD2):c.1207C>T (p.Arg403Trp)
|
rs1438580585
|
0.00001
|
NM_001271.4(CHD2):c.1225A>G (p.Asn409Asp)
|
rs531251618
|
0.00001
|
NM_001271.4(CHD2):c.12T>G (p.Asn4Lys)
|
rs750955957
|
0.00001
|
NM_001271.4(CHD2):c.1357A>T (p.Ile453Phe)
|
rs144393676
|
0.00001
|
NM_001271.4(CHD2):c.1503-5T>C
|
rs1008040869
|
0.00001
|
NM_001271.4(CHD2):c.1582C>G (p.His528Asp)
|
rs776364124
|
0.00001
|
NM_001271.4(CHD2):c.1693A>G (p.Ile565Val)
|
rs1060503518
|
0.00001
|
NM_001271.4(CHD2):c.1718C>T (p.Thr573Met)
|
rs780171086
|
0.00001
|
NM_001271.4(CHD2):c.185G>A (p.Ser62Asn)
|
rs886041165
|
0.00001
|
NM_001271.4(CHD2):c.1901T>C (p.Ile634Thr)
|
rs757715547
|
0.00001
|
NM_001271.4(CHD2):c.1994C>T (p.Pro665Leu)
|
rs773901289
|
0.00001
|
NM_001271.4(CHD2):c.2230A>G (p.Thr744Ala)
|
rs1596418984
|
0.00001
|
NM_001271.4(CHD2):c.2352+4G>C
|
rs1173333743
|
0.00001
|
NM_001271.4(CHD2):c.2506C>T (p.Arg836Cys)
|
rs1567148426
|
0.00001
|
NM_001271.4(CHD2):c.2507G>A (p.Arg836His)
|
rs1429832116
|
0.00001
|
NM_001271.4(CHD2):c.2568T>A (p.Asp856Glu)
|
rs770126779
|
0.00001
|
NM_001271.4(CHD2):c.2846C>T (p.Thr949Met)
|
rs1064794542
|
0.00001
|
NM_001271.4(CHD2):c.3238-3C>T
|
rs1596437905
|
0.00001
|
NM_001271.4(CHD2):c.3346C>T (p.Arg1116Cys)
|
rs200013427
|
0.00001
|
NM_001271.4(CHD2):c.3355C>T (p.Arg1119Cys)
|
rs370737593
|
0.00001
|
NM_001271.4(CHD2):c.3359C>T (p.Pro1120Leu)
|
rs2054032013
|
0.00001
|
NM_001271.4(CHD2):c.3367G>T (p.Val1123Leu)
|
rs1295966448
|
0.00001
|
NM_001271.4(CHD2):c.3371G>A (p.Arg1124Gln)
|
rs746349198
|
0.00001
|
NM_001271.4(CHD2):c.3377A>G (p.Asp1126Gly)
|
rs1343182559
|
0.00001
|
NM_001271.4(CHD2):c.3386A>G (p.Glu1129Gly)
|
rs927604763
|
0.00001
|
NM_001271.4(CHD2):c.3536A>G (p.Asn1179Ser)
|
rs561920953
|
0.00001
|
NM_001271.4(CHD2):c.3538A>G (p.Ser1180Gly)
|
rs759269259
|
0.00001
|
NM_001271.4(CHD2):c.3586G>A (p.Ala1196Thr)
|
rs561941628
|
0.00001
|
NM_001271.4(CHD2):c.3592G>A (p.Glu1198Lys)
|
rs757981280
|
0.00001
|
NM_001271.4(CHD2):c.3614G>A (p.Arg1205Lys)
|
rs559187972
|
0.00001
|
NM_001271.4(CHD2):c.3649G>C (p.Val1217Leu)
|
rs1465237014
|
0.00001
|
NM_001271.4(CHD2):c.3672A>G (p.Gln1224=)
|
rs768542034
|
0.00001
|
NM_001271.4(CHD2):c.3803G>A (p.Arg1268His)
|
rs1410226460
|
0.00001
|
NM_001271.4(CHD2):c.3893C>T (p.Pro1298Leu)
|
rs1273405855
|
0.00001
|
NM_001271.4(CHD2):c.4072G>A (p.Glu1358Lys)
|
rs766747626
|
0.00001
|
NM_001271.4(CHD2):c.4137+5G>A
|
rs762703910
|
0.00001
|
NM_001271.4(CHD2):c.4193A>C (p.Lys1398Thr)
|
rs1239452633
|
0.00001
|
NM_001271.4(CHD2):c.4213A>G (p.Met1405Val)
|
rs750869247
|
0.00001
|
NM_001271.4(CHD2):c.4225A>G (p.Lys1409Glu)
|
rs1334969628
|
0.00001
|
NM_001271.4(CHD2):c.4228G>T (p.Asp1410Tyr)
|
rs775901148
|
0.00001
|
NM_001271.4(CHD2):c.4274A>G (p.Glu1425Gly)
|
rs1304514223
|
0.00001
|
NM_001271.4(CHD2):c.4279-4A>G
|
rs774362000
|
0.00001
|
NM_001271.4(CHD2):c.4319G>T (p.Arg1440Leu)
|
rs374157769
|
0.00001
|
NM_001271.4(CHD2):c.4481A>G (p.Asn1494Ser)
|
rs913833972
|
0.00001
|
NM_001271.4(CHD2):c.4541C>T (p.Ala1514Val)
|
rs779865037
|
0.00001
|
NM_001271.4(CHD2):c.4559A>T (p.Tyr1520Phe)
|
rs1443730022
|
0.00001
|
NM_001271.4(CHD2):c.4678T>A (p.Ser1560Thr)
|
rs747637652
|
0.00001
|
NM_001271.4(CHD2):c.4714G>A (p.Val1572Met)
|
rs755267457
|
0.00001
|
NM_001271.4(CHD2):c.4793C>T (p.Ser1598Leu)
|
rs1382300456
|
0.00001
|
NM_001271.4(CHD2):c.4811A>C (p.Gln1604Pro)
|
rs1355095407
|
0.00001
|
NM_001271.4(CHD2):c.4826C>T (p.Pro1609Leu)
|
rs745396398
|
0.00001
|
NM_001271.4(CHD2):c.4864G>A (p.Asp1622Asn)
|
rs1044619239
|
0.00001
|
NM_001271.4(CHD2):c.486A>C (p.Gln162His)
|
rs1018764419
|
0.00001
|
NM_001271.4(CHD2):c.4910G>A (p.Arg1637Gln)
|
rs752891322
|
0.00001
|
NM_001271.4(CHD2):c.4931G>A (p.Arg1644Lys)
|
rs997227724
|
0.00001
|
NM_001271.4(CHD2):c.4960A>C (p.Asn1654His)
|
rs1437890850
|
0.00001
|
NM_001271.4(CHD2):c.4961A>G (p.Asn1654Ser)
|
rs1064795301
|
0.00001
|
NM_001271.4(CHD2):c.5008T>C (p.Tyr1670His)
|
rs775504391
|
0.00001
|
NM_001271.4(CHD2):c.5009A>G (p.Tyr1670Cys)
|
rs897082911
|
0.00001
|
NM_001271.4(CHD2):c.5051A>T (p.His1684Leu)
|
rs770784804
|
0.00001
|
NM_001271.4(CHD2):c.5059G>A (p.Gly1687Arg)
|
rs149696735
|
0.00001
|
NM_001271.4(CHD2):c.5129G>A (p.Arg1710Gln)
|
rs762575438
|
0.00001
|
NM_001271.4(CHD2):c.5134C>T (p.His1712Tyr)
|
rs1006465697
|
0.00001
|
NM_001271.4(CHD2):c.5153G>A (p.Arg1718Lys)
|
rs2054517021
|
0.00001
|
NM_001271.4(CHD2):c.5154-3C>A
|
rs924030126
|
0.00001
|
NM_001271.4(CHD2):c.5197C>G (p.Pro1733Ala)
|
rs1461476360
|
0.00001
|
NM_001271.4(CHD2):c.5211C>G (p.His1737Gln)
|
rs1350393242
|
0.00001
|
NM_001271.4(CHD2):c.5242C>T (p.Arg1748Cys)
|
rs767099765
|
0.00001
|
NM_001271.4(CHD2):c.5258A>G (p.Tyr1753Cys)
|
rs765267794
|
0.00001
|
NM_001271.4(CHD2):c.5267A>T (p.Gln1756Leu)
|
rs1045351387
|
0.00001
|
NM_001271.4(CHD2):c.5287C>T (p.Arg1763Cys)
|
rs1486760399
|
0.00001
|
NM_001271.4(CHD2):c.5335C>G (p.Pro1779Ala)
|
rs374271060
|
0.00001
|
NM_001271.4(CHD2):c.5348C>T (p.Ala1783Val)
|
rs1485233200
|
0.00001
|
NM_001271.4(CHD2):c.5362C>T (p.Arg1788Cys)
|
rs759259416
|
0.00001
|
NM_001271.4(CHD2):c.5414A>G (p.His1805Arg)
|
rs1287619700
|
0.00001
|
NM_001271.4(CHD2):c.5476C>T (p.Arg1826Trp)
|
rs759398974
|
0.00001
|
NM_001271.4(CHD2):c.547A>G (p.Arg183Gly)
|
rs1264879568
|
0.00001
|
NM_001271.4(CHD2):c.557T>C (p.Val186Ala)
|
rs760795656
|
0.00001
|
NM_001271.4(CHD2):c.574A>G (p.Lys192Glu)
|
rs377701152
|
0.00001
|
NM_001271.4(CHD2):c.594G>C (p.Gln198His)
|
rs374064833
|
0.00001
|
NM_001271.4(CHD2):c.599G>A (p.Gly200Glu)
|
rs368498690
|
0.00001
|
NM_001271.4(CHD2):c.601A>G (p.Lys201Glu)
|
rs750067899
|
0.00001
|
NM_001271.4(CHD2):c.623C>T (p.Ser208Phe)
|
rs2053325261
|
0.00001
|
NM_001271.4(CHD2):c.630G>T (p.Glu210Asp)
|
rs749147803
|
0.00001
|
NM_001271.4(CHD2):c.633T>G (p.Asp211Glu)
|
rs768365369
|
0.00001
|
NM_001271.4(CHD2):c.663G>C (p.Gln221His)
|
rs776917899
|
0.00001
|
NM_001271.4(CHD2):c.668G>A (p.Arg223His)
|
rs1041959719
|
0.00001
|
NM_001271.4(CHD2):c.688G>T (p.Val230Phe)
|
rs762370978
|
0.00001
|
NM_001271.4(CHD2):c.758T>C (p.Val253Ala)
|
rs773621487
|
0.00001
|
NM_001271.4(CHD2):c.825A>T (p.Gly275=)
|
rs372257500
|
0.00001
|
NM_001271.4(CHD2):c.826G>A (p.Ala276Thr)
|
rs375521197
|
0.00001
|
NM_001271.4(CHD2):c.835G>A (p.Ala279Thr)
|
rs1313540517
|
0.00001
|
NM_001271.4(CHD2):c.857T>C (p.Ile286Thr)
|
rs530919126
|
0.00001
|
NM_001271.4(CHD2):c.871G>A (p.Asp291Asn)
|
rs201819533
|
0.00001
|
NM_001271.4(CHD2):c.878G>C (p.Ser293Thr)
|
rs1555439526
|
0.00001
|
NM_001271.4(CHD2):c.890A>T (p.Asp297Val)
|
rs527697910
|
0.00001
|
NM_001271.4(CHD2):c.98C>T (p.Ser33Leu)
|
rs377012056
|
0.00001
|
NM_001278293.3(ARL6):c.*309T>C
|
rs2038100273
|
0.00001
|
NM_001278293.3(ARL6):c.-146T>C
|
rs886058937
|
0.00001
|
NM_001278293.3(ARL6):c.168G>C (p.Glu56Asp)
|
rs1295586318
|
0.00001
|
NM_001278293.3(ARL6):c.197C>T (p.Thr66Ile)
|
rs150667690
|
0.00001
|
NM_001278293.3(ARL6):c.226T>C (p.Tyr76His)
|
rs749599192
|
0.00001
|
NM_001278293.3(ARL6):c.306G>A (p.Met102Ile)
|
rs763779778
|
0.00001
|
NM_001278293.3(ARL6):c.307G>T (p.Val103Phe)
|
rs774150149
|
0.00001
|
NM_001278293.3(ARL6):c.317A>G (p.Lys106Arg)
|
rs2037383699
|
0.00001
|
NM_001278293.3(ARL6):c.344A>G (p.His115Arg)
|
rs1238121913
|
0.00001
|
NM_001278293.3(ARL6):c.361C>T (p.Arg121Cys)
|
rs202044896
|
0.00001
|
NM_001278293.3(ARL6):c.362G>A (p.Arg121His)
|
rs765715798
|
0.00001
|
NM_001278293.3(ARL6):c.418T>C (p.Ser140Pro)
|
rs1463393274
|
0.00001
|
NM_001278293.3(ARL6):c.430T>C (p.Ser144Pro)
|
rs1418049586
|
0.00001
|
NM_001278293.3(ARL6):c.471G>C (p.Trp157Cys)
|
rs1559687672
|
0.00001
|
NM_001278293.3(ARL6):c.538C>T (p.Gln180Ter)
|
rs201105839
|
0.00001
|
NM_001278293.3(ARL6):c.550G>T (p.Val184Leu)
|
rs1389543975
|
0.00001
|
NM_001287444.2(DCDC2C):c.955-1G>C
|
rs1167362443
|
0.00001
|
NM_001297.5(CNGB1):c.*1741T>C
|
rs1236550821
|
0.00001
|
NM_001297.5(CNGB1):c.*1810T>G
|
rs1219818645
|
0.00001
|
NM_001297.5(CNGB1):c.*882G>A
|
rs886052188
|
0.00001
|
NM_001297.5(CNGB1):c.151G>A (p.Glu51Lys)
|
rs1489659962
|
0.00001
|
NM_001297.5(CNGB1):c.158T>C (p.Met53Thr)
|
rs764636892
|
0.00001
|
NM_001297.5(CNGB1):c.1676C>A (p.Thr559Lys)
|
rs768874859
|
0.00001
|
NM_001297.5(CNGB1):c.1685C>T (p.Ala562Val)
|
rs1213983177
|
0.00001
|
NM_001297.5(CNGB1):c.1863G>A (p.Val621=)
|
rs753172645
|
0.00001
|
NM_001297.5(CNGB1):c.1957+6T>C
|
rs1357196940
|
0.00001
|
NM_001297.5(CNGB1):c.2091A>G (p.Leu697=)
|
rs767102177
|
0.00001
|
NM_001297.5(CNGB1):c.2104T>A (p.Tyr702Asn)
|
rs778003375
|
0.00001
|
NM_001297.5(CNGB1):c.2154C>T (p.Gly718=)
|
rs541698458
|
0.00001
|
NM_001297.5(CNGB1):c.2167-12C>T
|
rs772769638
|
0.00001
|
NM_001297.5(CNGB1):c.21G>C (p.Arg7Ser)
|
rs763447996
|
0.00001
|
NM_001297.5(CNGB1):c.2285G>A (p.Arg762His)
|
rs760373259
|
0.00001
|
NM_001297.5(CNGB1):c.2293C>T (p.Arg765Cys)
|
rs771833874
|
0.00001
|
NM_001297.5(CNGB1):c.2594A>C (p.Tyr865Ser)
|
rs376025801
|
0.00001
|
NM_001297.5(CNGB1):c.2603G>A (p.Gly868Asp)
|
rs770961534
|
0.00001
|
NM_001297.5(CNGB1):c.2844C>T (p.Leu948=)
|
rs376791249
|
0.00001
|
NM_001297.5(CNGB1):c.2902C>T (p.Arg968Trp)
|
rs780651730
|
0.00001
|
NM_001297.5(CNGB1):c.2921T>G (p.Met974Arg)
|
rs752967885
|
0.00001
|
NM_001297.5(CNGB1):c.3242+9C>A
|
rs371348182
|
0.00001
|
NM_001297.5(CNGB1):c.3496G>A (p.Gly1166Ser)
|
rs769142173
|
0.00001
|
NM_001297.5(CNGB1):c.358A>C (p.Ser120Arg)
|
rs375397174
|
0.00001
|
NM_001297.5(CNGB1):c.3590C>A (p.Pro1197Gln)
|
rs749978261
|
0.00001
|
NM_001297.5(CNGB1):c.585G>A (p.Ala195=)
|
rs530319460
|
0.00001
|
NM_001297.5(CNGB1):c.713G>A (p.Gly238Asp)
|
rs201703193
|
0.00001
|
NM_001297.5(CNGB1):c.873C>A (p.Thr291=)
|
rs181481207
|
0.00001
|
NM_001297.5(CNGB1):c.952C>T (p.Gln318Ter)
|
rs372504780
|
0.00001
|
NM_001330260.2(SCN8A):c.1396G>A (p.Glu466Lys)
|
rs557559740
|
0.00001
|
NM_001330260.2(SCN8A):c.160A>C (p.Lys54Gln)
|
rs755721954
|
0.00001
|
NM_001330260.2(SCN8A):c.2139A>C (p.Glu713Asp)
|
rs1218269439
|
0.00001
|
NM_001330260.2(SCN8A):c.3136G>A (p.Ala1046Thr)
|
rs775833241
|
0.00001
|
NM_001330260.2(SCN8A):c.3164G>A (p.Arg1055Gln)
|
rs756127631
|
0.00001
|
NM_001330260.2(SCN8A):c.457A>C (p.Asn153His)
|
rs796053232
|
0.00001
|
NM_001330260.2(SCN8A):c.4634C>T (p.Thr1545Ile)
|
rs759753811
|
0.00001
|
NM_001330260.2(SCN8A):c.5479A>G (p.Ile1827Val)
|
rs764115258
|
0.00001
|
NM_001330260.2(SCN8A):c.71A>G (p.Asn24Ser)
|
rs769269501
|
0.00001
|
NM_001352514.2(HLCS):c.*1766G>A
|
rs537534748
|
0.00001
|
NM_001352514.2(HLCS):c.*2434G>T
|
rs886057062
|
0.00001
|
NM_001352514.2(HLCS):c.*2700C>T
|
rs140135359
|
0.00001
|
NM_001352514.2(HLCS):c.*2847G>A
|
rs1269300334
|
0.00001
|
NM_001352514.2(HLCS):c.*3043A>G
|
rs539444862
|
0.00001
|
NM_001352514.2(HLCS):c.*3209C>T
|
rs886057059
|
0.00001
|
NM_001352514.2(HLCS):c.*448G>C
|
rs772947158
|
0.00001
|
NM_001352514.2(HLCS):c.1192A>G (p.Thr398Ala)
|
rs1259711297
|
0.00001
|
NM_001352514.2(HLCS):c.1369G>A (p.Glu457Lys)
|
rs763927037
|
0.00001
|
NM_001352514.2(HLCS):c.1719C>T (p.Tyr573=)
|
rs148814769
|
0.00001
|
NM_001352514.2(HLCS):c.1850T>C (p.Leu617Ser)
|
rs1261821166
|
0.00001
|
NM_001352514.2(HLCS):c.1918A>G (p.Met640Val)
|
rs772156741
|
0.00001
|
NM_001352514.2(HLCS):c.1943G>A (p.Arg648Gln)
|
rs886057076
|
0.00001
|
NM_001352514.2(HLCS):c.1951G>A (p.Glu651Lys)
|
rs1035549573
|
0.00001
|
NM_001352514.2(HLCS):c.2076G>A (p.Met692Ile)
|
rs1460453809
|
0.00001
|
NM_001352514.2(HLCS):c.2135G>A (p.Arg712Gln)
|
rs769446135
|
0.00001
|
NM_001352514.2(HLCS):c.2225A>G (p.Tyr742Cys)
|
rs1464046978
|
0.00001
|
NM_001352514.2(HLCS):c.2266C>T (p.Pro756Ser)
|
rs1285498636
|
0.00001
|
NM_001352514.2(HLCS):c.2313C>G (p.His771Gln)
|
rs1376040224
|
0.00001
|
NM_001352514.2(HLCS):c.2339C>T (p.Ala780Val)
|
rs763760775
|
0.00001
|
NM_001352514.2(HLCS):c.2371C>G (p.Leu791Val)
|
rs748447457
|
0.00001
|
NM_001352514.2(HLCS):c.2443G>A (p.Val815Ile)
|
rs144116568
|
0.00001
|
NM_001352514.2(HLCS):c.2451-1G>A
|
rs1158898827
|
0.00001
|
NM_001352514.2(HLCS):c.2485C>A (p.Pro829Thr)
|
rs1417729542
|
0.00001
|
NM_001352514.2(HLCS):c.2519G>C (p.Gly840Ala)
|
rs764148793
|
0.00001
|
NM_001352514.2(HLCS):c.2567C>T (p.Pro856Leu)
|
rs1260631800
|
0.00001
|
NM_001352514.2(HLCS):c.2568G>A (p.Pro856=)
|
rs745670538
|
0.00001
|
NM_001352514.2(HLCS):c.2585A>C (p.Asp862Ala)
|
rs752737867
|
0.00001
|
NM_001352514.2(HLCS):c.442A>G (p.Met148Val)
|
rs764841449
|
0.00001
|
NM_001352514.2(HLCS):c.445G>A (p.Glu149Lys)
|
rs148981273
|
0.00001
|
NM_001352514.2(HLCS):c.494-8T>A
|
rs778287214
|
0.00001
|
NM_001352514.2(HLCS):c.500A>G (p.His167Arg)
|
rs577182758
|
0.00001
|
NM_001352514.2(HLCS):c.529A>G (p.Lys177Glu)
|
rs759396333
|
0.00001
|
NM_001352514.2(HLCS):c.609C>T (p.Asp203=)
|
rs370118884
|
0.00001
|
NM_001352514.2(HLCS):c.723C>A (p.Gly241=)
|
rs886057077
|
0.00001
|
NM_001352514.2(HLCS):c.790A>G (p.Ile264Val)
|
rs1342427477
|
0.00001
|
NM_001352514.2(HLCS):c.840C>T (p.Tyr280=)
|
rs779907293
|
0.00001
|
NM_001352514.2(HLCS):c.970G>A (p.Gly324Ser)
|
rs574778377
|
0.00001
|
NM_001354768.3(NRL):c.-27-2A>G
|
rs771932471
|
0.00001
|
NM_001354768.3(NRL):c.16del (p.Ser6fs)
|
rs759747780
|
0.00001
|
NM_001354768.3(NRL):c.713G>T (p.Ter238Leu)
|
rs754136527
|
0.00001
|
NM_001367823.1(ARHGEF18):c.2089T>G (p.Ser697Ala)
|
rs1250391682
|
0.00001
|
NM_001370658.1(BTD):c.*57T>A
|
rs886058118
|
0.00001
|
NM_001370658.1(BTD):c.-59T>A
|
rs768258310
|
0.00001
|
NM_001370658.1(BTD):c.-74G>A
|
rs200884349
|
0.00001
|
NM_001370658.1(BTD):c.1013A>G (p.His338Arg)
|
rs1379845261
|
0.00001
|
NM_001370658.1(BTD):c.1043A>C (p.Asp348Ala)
|
rs886058115
|
0.00001
|
NM_001370658.1(BTD):c.1051T>C (p.Cys351Arg)
|
rs775369290
|
0.00001
|
NM_001370658.1(BTD):c.1112C>T (p.Pro371Leu)
|
rs375239909
|
0.00001
|
NM_001370658.1(BTD):c.1144A>G (p.Asn382Asp)
|
rs147188293
|
0.00001
|
NM_001370658.1(BTD):c.1151C>T (p.Thr384Ile)
|
rs397514405
|
0.00001
|
NM_001370658.1(BTD):c.1159C>T (p.Pro387Ser)
|
rs777799585
|
0.00001
|
NM_001370658.1(BTD):c.1189G>A (p.Val397Ile)
|
rs397514409
|
0.00001
|
NM_001370658.1(BTD):c.1207T>C (p.Cys403Arg)
|
rs397514412
|
0.00001
|
NM_001370658.1(BTD):c.1246G>A (p.Glu416Lys)
|
rs749460715
|
0.00001
|
NM_001370658.1(BTD):c.1292G>A (p.Gly431Asp)
|
rs397514419
|
0.00001
|
NM_001370658.1(BTD):c.1333G>T (p.Gly445Cys)
|
rs746099217
|
0.00001
|
NM_001370658.1(BTD):c.1334G>T (p.Gly445Val)
|
rs1223614917
|
0.00001
|
NM_001370658.1(BTD):c.136C>A (p.Pro46Thr)
|
rs778785164
|
0.00001
|
NM_001370658.1(BTD):c.1379G>A (p.Gly460Glu)
|
rs558477960
|
0.00001
|
NM_001370658.1(BTD):c.140C>G (p.Ser47Cys)
|
rs747489101
|
0.00001
|
NM_001370658.1(BTD):c.1473G>C (p.Gln491His)
|
rs764375610
|
0.00001
|
NM_001370658.1(BTD):c.1543C>G (p.Leu515Val)
|
rs771537277
|
0.00001
|
NM_001370658.1(BTD):c.176G>A (p.Arg59His)
|
rs397514343
|
0.00001
|
NM_001370658.1(BTD):c.250-15del
|
rs587783008
|
0.00001
|
NM_001370658.1(BTD):c.296A>G (p.Asn99Ser)
|
rs397514353
|
0.00001
|
NM_001370658.1(BTD):c.320C>T (p.Pro107Leu)
|
rs575787457
|
0.00001
|
NM_001370658.1(BTD):c.385T>C (p.Phe129Leu)
|
rs397514359
|
0.00001
|
NM_001370658.1(BTD):c.409C>T (p.Arg137Cys)
|
rs397514363
|
0.00001
|
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser)
|
rs119103232
|
0.00001
|
NM_001370658.1(BTD):c.425C>T (p.Ala142Val)
|
rs397514364
|
0.00001
|
NM_001370658.1(BTD):c.455A>G (p.Asn152Ser)
|
rs397514366
|
0.00001
|
NM_001370658.1(BTD):c.481A>G (p.Ser161Gly)
|
rs541012569
|
0.00001
|
NM_001370658.1(BTD):c.523A>G (p.Asn175Asp)
|
rs397514370
|
0.00001
|
NM_001370658.1(BTD):c.545A>G (p.Asn182Ser)
|
rs397514376
|
0.00001
|
NM_001370658.1(BTD):c.572G>A (p.Arg191His)
|
rs112195009
|
0.00001
|
NM_001370658.1(BTD):c.591T>G (p.Phe197Leu)
|
rs767750851
|
0.00001
|
NM_001370658.1(BTD):c.649G>A (p.Ala217Thr)
|
rs397514381
|
0.00001
|
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr)
|
rs397514382
|
0.00001
|
NM_001370658.1(BTD):c.697C>T (p.Pro233Ser)
|
rs397514383
|
0.00001
|
NM_001370658.1(BTD):c.704T>C (p.Ile235Thr)
|
rs397514384
|
0.00001
|
NM_001370658.1(BTD):c.875G>A (p.Gly292Asp)
|
rs377651057
|
0.00001
|
NM_001370658.1(BTD):c.912C>G (p.Asp304Glu)
|
rs1449860088
|
0.00001
|
NM_001370658.1(BTD):c.917A>G (p.Glu306Gly)
|
rs747059644
|
0.00001
|
NM_001370658.1(BTD):c.944C>T (p.Ala315Val)
|
rs1465883743
|
0.00001
|
NM_001378615.1(CC2D2A):c.832C>T (p.Arg278Trp)
|
rs372873919
|
0.00001
|
NM_001379270.1(CNGA1):c.*35C>T
|
rs757494572
|
0.00001
|
NM_001379270.1(CNGA1):c.*53A>G
|
rs1257715115
|
0.00001
|
NM_001379270.1(CNGA1):c.-122-10A>T
|
rs886059424
|
0.00001
|
NM_001379270.1(CNGA1):c.1298G>T (p.Trp433Leu)
|
rs762935052
|
0.00001
|
NM_001379270.1(CNGA1):c.1391A>G (p.Asn464Ser)
|
rs749947364
|
0.00001
|
NM_001379270.1(CNGA1):c.1898T>G (p.Leu633Arg)
|
rs756433866
|
0.00001
|
NM_001379270.1(CNGA1):c.220C>T (p.Gln74Ter)
|
rs1490804242
|
0.00001
|
NM_001379270.1(CNGA1):c.641G>A (p.Arg214Gln)
|
rs776929323
|
0.00001
|
NM_001379270.1(CNGA1):c.642A>G (p.Arg214=)
|
rs752257711
|
0.00001
|
NM_001386393.1(PANK2):c.938G>T (p.Cys313Phe)
|
rs779815683
|
0.00001
|
NM_001387564.1(SMIM27):c.-4T>C
|
rs2040734643
|
0.00001
|
NM_001387564.1(SMIM27):c.45+21G>A
|
rs776476617
|
0.00001
|
NM_001482.3(GATM):c.*713T>A
|
rs1889360907
|
0.00001
|
NM_001482.3(GATM):c.101G>A (p.Arg34Gln)
|
rs1889644849
|
0.00001
|
NM_001482.3(GATM):c.1037C>T (p.Pro346Leu)
|
rs142814307
|
0.00001
|
NM_001482.3(GATM):c.104C>A (p.Thr35Asn)
|
rs1331986925
|
0.00001
|
NM_001482.3(GATM):c.1085T>C (p.Val362Ala)
|
rs1479969521
|
0.00001
|
NM_001482.3(GATM):c.1105C>T (p.Arg369Cys)
|
rs768118194
|
0.00001
|
NM_001482.3(GATM):c.1166C>T (p.Thr389Ile)
|
rs1450827920
|
0.00001
|
NM_001482.3(GATM):c.1186C>A (p.Arg396Ser)
|
rs1183535332
|
0.00001
|
NM_001482.3(GATM):c.1231G>A (p.Asp411Asn)
|
rs768171759
|
0.00001
|
NM_001482.3(GATM):c.334G>A (p.Gly112Arg)
|
rs1889504321
|
0.00001
|
NM_001482.3(GATM):c.565C>T (p.Arg189Cys)
|
rs377578020
|
0.00001
|
NM_001482.3(GATM):c.581G>A (p.Arg194Gln)
|
rs774017569
|
0.00001
|
NM_001482.3(GATM):c.584C>T (p.Ala195Val)
|
rs752950030
|
0.00001
|
NM_001482.3(GATM):c.598A>G (p.Ile200Val)
|
rs1171642313
|
0.00001
|
NM_001482.3(GATM):c.603A>C (p.Lys201Asn)
|
rs748600834
|
0.00001
|
NM_001482.3(GATM):c.60C>G (p.Ile20Met)
|
rs1000621646
|
0.00001
|
NM_001482.3(GATM):c.616C>T (p.Arg206Cys)
|
rs769023072
|
0.00001
|
NM_001482.3(GATM):c.617G>A (p.Arg206His)
|
rs565509522
|
0.00001
|
NM_001482.3(GATM):c.622G>A (p.Ala208Thr)
|
rs374059924
|
0.00001
|
NM_001482.3(GATM):c.625A>G (p.Lys209Glu)
|
rs1393968087
|
0.00001
|
NM_001482.3(GATM):c.638C>T (p.Ala213Val)
|
rs778893952
|
0.00001
|
NM_001482.3(GATM):c.67C>T (p.Arg23Trp)
|
rs1240389133
|
0.00001
|
NM_001482.3(GATM):c.710A>G (p.Lys237Arg)
|
rs764877849
|
0.00001
|
NM_001482.3(GATM):c.724G>C (p.Gly242Arg)
|
rs1236954285
|
0.00001
|
NM_001482.3(GATM):c.742G>A (p.Glu248Lys)
|
rs1388250183
|
0.00001
|
NM_001482.3(GATM):c.76C>G (p.Arg26Gly)
|
rs1032267288
|
0.00001
|
NM_001482.3(GATM):c.7C>G (p.Arg3Gly)
|
rs796052538
|
0.00001
|
NM_001482.3(GATM):c.814-3C>T
|
rs1262428448
|
0.00001
|
NM_001482.3(GATM):c.875A>G (p.His292Arg)
|
rs747005297
|
0.00001
|
NM_001482.3(GATM):c.88G>A (p.Gly30Arg)
|
rs1245821498
|
0.00001
|
NM_001482.3(GATM):c.911T>C (p.Ile304Thr)
|
rs1334969328
|
0.00001
|
NM_001482.3(GATM):c.967C>G (p.Pro323Ala)
|
rs777371743
|
0.00001
|
NM_001482.3(GATM):c.985C>G (p.Leu329Val)
|
rs373802463
|
0.00001
|
NM_001605.3(AARS1):c.259G>A (p.Asp87Asn)
|
rs763757370
|
0.00001
|
NM_001605.3(AARS1):c.2738G>A (p.Gly913Asp)
|
rs369774476
|
0.00001
|
NM_001609.4(ACADSB):c.*1942C>T
|
rs886046794
|
0.00001
|
NM_001609.4(ACADSB):c.*4177G>A
|
rs886046806
|
0.00001
|
NM_001609.4(ACADSB):c.1060G>A (p.Ala354Thr)
|
rs200548567
|
0.00001
|
NM_001609.4(ACADSB):c.1138C>G (p.Gln380Glu)
|
rs748042148
|
0.00001
|
NM_001609.4(ACADSB):c.1154G>A (p.Cys385Tyr)
|
rs1370215763
|
0.00001
|
NM_001609.4(ACADSB):c.1156A>G (p.Ile386Val)
|
rs770827167
|
0.00001
|
NM_001609.4(ACADSB):c.1168G>A (p.Gly390Arg)
|
rs764095189
|
0.00001
|
NM_001609.4(ACADSB):c.1229-15T>G
|
rs371377486
|
0.00001
|
NM_001609.4(ACADSB):c.1271T>C (p.Ile424Thr)
|
rs748926593
|
0.00001
|
NM_001609.4(ACADSB):c.154G>A (p.Ala52Thr)
|
rs1164586012
|
0.00001
|
NM_001609.4(ACADSB):c.219G>A (p.Gln73=)
|
rs756256851
|
0.00001
|
NM_001609.4(ACADSB):c.265A>G (p.Met89Val)
|
rs372537859
|
0.00001
|
NM_001609.4(ACADSB):c.303+3A>G
|
rs1345480688
|
0.00001
|
NM_001609.4(ACADSB):c.512T>G (p.Val171Gly)
|
rs1343737959
|
0.00001
|
NM_001609.4(ACADSB):c.680T>C (p.Ile227Thr)
|
rs755158007
|
0.00001
|
NM_001609.4(ACADSB):c.681+14C>T
|
rs748185849
|
0.00001
|
NM_001609.4(ACADSB):c.796G>A (p.Glu266Lys)
|
rs1266747835
|
0.00001
|
NM_001609.4(ACADSB):c.95T>A (p.Val32Asp)
|
rs751722805
|
0.00001
|
NM_001698.3(AUH):c.1003C>T (p.Arg335Cys)
|
rs772918339
|
0.00001
|
NM_001698.3(AUH):c.25C>G (p.Pro9Ala)
|
rs1461159226
|
0.00001
|
NM_001698.3(AUH):c.305C>T (p.Ser102Leu)
|
rs368115216
|
0.00001
|
NM_001698.3(AUH):c.323T>C (p.Ile108Thr)
|
rs531669666
|
0.00001
|
NM_001698.3(AUH):c.476C>G (p.Ser159Cys)
|
rs1282582845
|
0.00001
|
NM_001698.3(AUH):c.547G>A (p.Ala183Thr)
|
rs548411527
|
0.00001
|
NM_001698.3(AUH):c.56G>T (p.Gly19Val)
|
rs1832891431
|
0.00001
|
NM_001698.3(AUH):c.655+3A>C
|
rs755914350
|
0.00001
|
NM_001698.3(AUH):c.769G>A (p.Val257Ile)
|
rs749920943
|
0.00001
|
NM_001698.3(AUH):c.797C>T (p.Ala266Val)
|
rs570875104
|
0.00001
|
NM_001698.3(AUH):c.84G>T (p.Ala28=)
|
rs1057515676
|
0.00001
|
NM_001698.3(AUH):c.860G>C (p.Arg287Thr)
|
rs1826877739
|
0.00001
|
NM_001698.3(AUH):c.894+9C>A
|
rs1388023086
|
0.00001
|
NM_001698.3(AUH):c.898G>A (p.Asp300Asn)
|
rs746215620
|
0.00001
|
NM_001739.2(CA5A):c.110G>A (p.Arg37His)
|
rs775785856
|
0.00001
|
NM_001739.2(CA5A):c.235C>G (p.Gln79Glu)
|
rs773608071
|
0.00001
|
NM_001739.2(CA5A):c.412G>A (p.Glu138Lys)
|
rs747262976
|
0.00001
|
NM_001739.2(CA5A):c.427C>G (p.His143Asp)
|
rs1407821429
|
0.00001
|
NM_001739.2(CA5A):c.473A>C (p.His158Pro)
|
rs754607374
|
0.00001
|
NM_001739.2(CA5A):c.697T>C (p.Ser233Pro)
|
rs587777316
|
0.00001
|
NM_001875.5(CPS1):c.*1117A>G
|
rs886055564
|
0.00001
|
NM_001875.5(CPS1):c.*424A>C
|
rs1414802360
|
0.00001
|
NM_001875.5(CPS1):c.*739T>G
|
rs886055560
|
0.00001
|
NM_001875.5(CPS1):c.*913G>T
|
rs541817831
|
0.00001
|
NM_001875.5(CPS1):c.-76A>G
|
rs372753413
|
0.00001
|
NM_001875.5(CPS1):c.1063A>G (p.Asn355Asp)
|
rs1472190012
|
0.00001
|
NM_001875.5(CPS1):c.1070A>G (p.Asn357Ser)
|
rs761817028
|
0.00001
|
NM_001875.5(CPS1):c.1092T>G (p.Ile364Met)
|
rs772077620
|
0.00001
|
NM_001875.5(CPS1):c.112C>T (p.Leu38Phe)
|
rs749164722
|
0.00001
|
NM_001875.5(CPS1):c.1208C>G (p.Ala403Gly)
|
rs754023105
|
0.00001
|
NM_001875.5(CPS1):c.1359+4A>G
|
rs916389428
|
0.00001
|
NM_001875.5(CPS1):c.1400C>T (p.Ala467Val)
|
rs746395584
|
0.00001
|
NM_001875.5(CPS1):c.1456C>T (p.Pro486Ser)
|
rs1419745583
|
0.00001
|
NM_001875.5(CPS1):c.155A>G (p.Asp52Gly)
|
rs779756731
|
0.00001
|
NM_001875.5(CPS1):c.1582G>C (p.Glu528Gln)
|
rs763466112
|
0.00001
|
NM_001875.5(CPS1):c.158G>C (p.Gly53Ala)
|
rs140092912
|
0.00001
|
NM_001875.5(CPS1):c.1638C>A (p.Asp546Glu)
|
rs1326614424
|
0.00001
|
NM_001875.5(CPS1):c.1673A>G (p.Asn558Ser)
|
rs1698690768
|
0.00001
|
NM_001875.5(CPS1):c.1693T>A (p.Phe565Ile)
|
rs773713162
|
0.00001
|
NM_001875.5(CPS1):c.1708-5G>A
|
rs571670790
|
0.00001
|
NM_001875.5(CPS1):c.1837-8A>G
|
rs1290474919
|
0.00001
|
NM_001875.5(CPS1):c.2308G>A (p.Val770Ile)
|
rs1237628982
|
0.00001
|
NM_001875.5(CPS1):c.2441G>A (p.Arg814Gln)
|
rs200731808
|
0.00001
|
NM_001875.5(CPS1):c.2454A>G (p.Pro818=)
|
rs765712117
|
0.00001
|
NM_001875.5(CPS1):c.259C>T (p.Pro87Ser)
|
rs1553509297
|
0.00001
|
NM_001875.5(CPS1):c.2732G>A (p.Gly911Glu)
|
rs1388955593
|
0.00001
|
NM_001875.5(CPS1):c.2738C>T (p.Ser913Leu)
|
rs754706559
|
0.00001
|
NM_001875.5(CPS1):c.2740G>C (p.Asp914His)
|
rs765484849
|
0.00001
|
NM_001875.5(CPS1):c.2809_2810del (p.Ile937fs)
|
rs1318756445
|
0.00001
|
NM_001875.5(CPS1):c.2810T>A (p.Ile937Asn)
|
rs760714614
|
0.00001
|
NM_001875.5(CPS1):c.2860G>T (p.Val954Leu)
|
rs756163174
|
0.00001
|
NM_001875.5(CPS1):c.286A>G (p.Met96Val)
|
rs1432483864
|
0.00001
|
NM_001875.5(CPS1):c.2944G>A (p.Gly982Ser)
|
rs757059355
|
0.00001
|
NM_001875.5(CPS1):c.2945G>T (p.Gly982Val)
|
rs121912595
|
0.00001
|
NM_001875.5(CPS1):c.2957T>C (p.Ile986Thr)
|
rs1553516442
|
0.00001
|
NM_001875.5(CPS1):c.3047A>G (p.Asn1016Ser)
|
rs749238466
|
0.00001
|
NM_001875.5(CPS1):c.3127A>G (p.Ile1043Val)
|
rs200237771
|
0.00001
|
NM_001875.5(CPS1):c.3129C>G (p.Ile1043Met)
|
rs1294236456
|
0.00001
|
NM_001875.5(CPS1):c.3174C>T (p.Gly1058=)
|
rs369030433
|
0.00001
|
NM_001875.5(CPS1):c.3194C>A (p.Ala1065Glu)
|
rs770471782
|
0.00001
|
NM_001875.5(CPS1):c.3272T>G (p.Ile1091Ser)
|
rs538878532
|
0.00001
|
NM_001875.5(CPS1):c.3286T>C (p.Leu1096=)
|
rs749825961
|
0.00001
|
NM_001875.5(CPS1):c.3292G>A (p.Glu1098Lys)
|
rs768579926
|
0.00001
|
NM_001875.5(CPS1):c.3303G>A (p.Val1101=)
|
rs774531676
|
0.00001
|
NM_001875.5(CPS1):c.3336+4A>G
|
rs776401808
|
0.00001
|
NM_001875.5(CPS1):c.3368A>T (p.Asp1123Val)
|
rs1391357751
|
0.00001
|
NM_001875.5(CPS1):c.3464C>T (p.Ala1155Val)
|
rs766125631
|
0.00001
|
NM_001875.5(CPS1):c.3521G>A (p.Arg1174Gln)
|
rs553145464
|
0.00001
|
NM_001875.5(CPS1):c.3552T>G (p.Asp1184Glu)
|
rs769391518
|
0.00001
|
NM_001875.5(CPS1):c.3558+7G>A
|
rs764456030
|
0.00001
|
NM_001875.5(CPS1):c.3662A>G (p.Glu1221Gly)
|
rs1276176761
|
0.00001
|
NM_001875.5(CPS1):c.3683G>A (p.Arg1228Gln)
|
rs778117194
|
0.00001
|
NM_001875.5(CPS1):c.3740A>C (p.Lys1247Thr)
|
rs754433289
|
0.00001
|
NM_001875.5(CPS1):c.3785G>A (p.Arg1262Gln)
|
rs750670270
|
0.00001
|
NM_001875.5(CPS1):c.390T>A (p.Gly130=)
|
rs577598098
|
0.00001
|
NM_001875.5(CPS1):c.4002G>A (p.Glu1334=)
|
rs774434356
|
0.00001
|
NM_001875.5(CPS1):c.4003-3C>A
|
rs779886770
|
0.00001
|
NM_001875.5(CPS1):c.4112G>A (p.Arg1371Gln)
|
rs765106604
|
0.00001
|
NM_001875.5(CPS1):c.4172C>T (p.Thr1391Met)
|
rs1392934477
|
0.00001
|
NM_001875.5(CPS1):c.4198G>A (p.Ala1400Thr)
|
rs779382562
|
0.00001
|
NM_001875.5(CPS1):c.4274+2T>C
|
rs1374322297
|
0.00001
|
NM_001875.5(CPS1):c.4303G>A (p.Val1435Met)
|
rs778325183
|
0.00001
|
NM_001875.5(CPS1):c.49G>A (p.Gly17Ser)
|
rs868808195
|
0.00001
|
NM_001875.5(CPS1):c.586A>G (p.Asn196Asp)
|
rs770935194
|
0.00001
|
NM_001875.5(CPS1):c.655A>G (p.Lys219Glu)
|
rs769324029
|
0.00001
|
NM_001875.5(CPS1):c.697C>T (p.Arg233Cys)
|
rs767905306
|
0.00001
|
NM_001875.5(CPS1):c.856C>T (p.Arg286Cys)
|
rs202130487
|
0.00001
|
NM_001875.5(CPS1):c.8G>T (p.Arg3Met)
|
rs750705469
|
0.00001
|
NM_001875.5(CPS1):c.902G>A (p.Gly301Glu)
|
rs973321068
|
0.00001
|
NM_001875.5(CPS1):c.937A>G (p.Met313Val)
|
rs587780323
|
0.00001
|
NM_001875.5(CPS1):c.994A>T (p.Ile332Phe)
|
rs1394302181
|
0.00001
|
NM_001876.4(CPT1A):c.1027T>G (p.Phe343Val)
|
rs80356783
|
0.00001
|
NM_001876.4(CPT1A):c.1054C>T (p.Arg352Trp)
|
rs376844032
|
0.00001
|
NM_001876.4(CPT1A):c.116G>C (p.Trp39Ser)
|
rs766209790
|
0.00001
|
NM_001876.4(CPT1A):c.1199G>C (p.Gly400Ala)
|
rs889632692
|
0.00001
|
NM_001876.4(CPT1A):c.1244C>T (p.Ala415Val)
|
rs528019785
|
0.00001
|
NM_001876.4(CPT1A):c.1268C>T (p.Thr423Ile)
|
rs1198520664
|
0.00001
|
NM_001876.4(CPT1A):c.1348G>A (p.Asp450Asn)
|
rs745680805
|
0.00001
|
NM_001876.4(CPT1A):c.1393G>A (p.Gly465Arg)
|
rs80356784
|
0.00001
|
NM_001876.4(CPT1A):c.1449C>A (p.His483Gln)
|
rs1165511243
|
0.00001
|
NM_001876.4(CPT1A):c.1465A>G (p.Met489Val)
|
rs1027117038
|
0.00001
|
NM_001876.4(CPT1A):c.1500G>A (p.Glu500=)
|
rs760474415
|
0.00001
|
NM_001876.4(CPT1A):c.1654G>A (p.Val552Ile)
|
rs764692013
|
0.00001
|
NM_001876.4(CPT1A):c.1720C>T (p.Leu574Phe)
|
rs1484699196
|
0.00001
|
NM_001876.4(CPT1A):c.1865C>T (p.Pro622Leu)
|
rs776782808
|
0.00001
|
NM_001876.4(CPT1A):c.1877T>C (p.Val626Ala)
|
rs768746064
|
0.00001
|
NM_001876.4(CPT1A):c.1933C>T (p.Arg645Cys)
|
rs367840385
|
0.00001
|
NM_001876.4(CPT1A):c.1946C>T (p.Thr649Ile)
|
rs1369067061
|
0.00001
|
NM_001876.4(CPT1A):c.1948G>A (p.Gly650Ser)
|
rs760769734
|
0.00001
|
NM_001876.4(CPT1A):c.247A>G (p.Ile83Val)
|
rs748174436
|
0.00001
|
NM_001876.4(CPT1A):c.263A>G (p.Asn88Ser)
|
rs781040444
|
0.00001
|
NM_001876.4(CPT1A):c.265C>T (p.Arg89Trp)
|
rs574346392
|
0.00001
|
NM_001876.4(CPT1A):c.292T>A (p.Ser98Thr)
|
rs201446439
|
0.00001
|
NM_001876.4(CPT1A):c.317G>A (p.Ser106Asn)
|
rs766819782
|
0.00001
|
NM_001876.4(CPT1A):c.319G>A (p.Gly107Ser)
|
rs773497434
|
0.00001
|
NM_001876.4(CPT1A):c.421G>A (p.Gly141Ser)
|
rs1309112630
|
0.00001
|
NM_001876.4(CPT1A):c.440C>T (p.Thr147Ile)
|
rs760683406
|
0.00001
|
NM_001876.4(CPT1A):c.557A>G (p.Tyr186Cys)
|
rs759188040
|
0.00001
|
NM_001876.4(CPT1A):c.56T>C (p.Ile19Thr)
|
rs1306340710
|
0.00001
|
NM_001876.4(CPT1A):c.883C>T (p.Arg295Cys)
|
rs780487379
|
0.00001
|
NM_001876.4(CPT1A):c.916G>A (p.Ala306Thr)
|
rs775746905
|
0.00001
|
NM_001876.4(CPT1A):c.968-11G>A
|
rs755131342
|
0.00001
|
NM_001902.6(CTH):c.*217G>T
|
rs567991643
|
0.00001
|
NM_001902.6(CTH):c.1033G>A (p.Glu345Lys)
|
rs771762248
|
0.00001
|
NM_001902.6(CTH):c.465G>A (p.Trp155Ter)
|
rs1032541755
|
0.00001
|
NM_001918.3(DBT):c.-40T>A
|
rs1314975626
|
0.00001
|
NM_001918.5(DBT):c.*1572A>G
|
rs1424615850
|
0.00001
|
NM_001918.5(DBT):c.*2119G>A
|
rs928405900
|
0.00001
|
NM_001918.5(DBT):c.*2822T>G
|
rs747199821
|
0.00001
|
NM_001918.5(DBT):c.*3135G>A
|
rs886044953
|
0.00001
|
NM_001918.5(DBT):c.*358A>C
|
rs1553228540
|
0.00001
|
NM_001918.5(DBT):c.*4425C>A
|
rs1030557885
|
0.00001
|
NM_001918.5(DBT):c.*5591T>C
|
rs749879959
|
0.00001
|
NM_001918.5(DBT):c.*5638C>T
|
rs886044944
|
0.00001
|
NM_001918.5(DBT):c.*6270A>G
|
rs1435365769
|
0.00001
|
NM_001918.5(DBT):c.*635C>T
|
rs886044962
|
0.00001
|
NM_001918.5(DBT):c.*7187G>A
|
rs886044942
|
0.00001
|
NM_001918.5(DBT):c.*7369G>A
|
rs893354618
|
0.00001
|
NM_001918.5(DBT):c.*8385A>C
|
rs886044940
|
0.00001
|
NM_001918.5(DBT):c.*8830T>C
|
rs1660613432
|
0.00001
|
NM_001918.5(DBT):c.1017G>A (p.Lys339=)
|
rs1490661508
|
0.00001
|
NM_001918.5(DBT):c.1036A>G (p.Ile346Val)
|
rs1302449788
|
0.00001
|
NM_001918.5(DBT):c.1171C>T (p.Leu391Phe)
|
rs1339599491
|
0.00001
|
NM_001918.5(DBT):c.1202T>C (p.Ile401Thr)
|
rs1449113689
|
0.00001
|
NM_001918.5(DBT):c.1217G>T (p.Gly406Val)
|
rs767154711
|
0.00001
|
NM_001918.5(DBT):c.1261G>T (p.Gly421Trp)
|
rs796051945
|
0.00001
|
NM_001918.5(DBT):c.1385G>A (p.Arg462His)
|
rs750594890
|
0.00001
|
NM_001918.5(DBT):c.1400G>A (p.Trp467Ter)
|
rs767760099
|
0.00001
|
NM_001918.5(DBT):c.198G>A (p.Gln66=)
|
rs201714436
|
0.00001
|
NM_001918.5(DBT):c.365A>G (p.Tyr122Cys)
|
rs727503896
|
0.00001
|
NM_001918.5(DBT):c.5C>T (p.Ala2Val)
|
rs398123672
|
0.00001
|
NM_001918.5(DBT):c.61C>T (p.Arg21Cys)
|
rs398123673
|
0.00001
|
NM_001918.5(DBT):c.673A>C (p.Ile225Leu)
|
rs1472099889
|
0.00001
|
NM_001918.5(DBT):c.781A>G (p.Lys261Glu)
|
rs926492799
|
0.00001
|
NM_001918.5(DBT):c.815A>G (p.Lys272Arg)
|
rs1662393960
|
0.00001
|
NM_001918.5(DBT):c.836G>T (p.Cys279Phe)
|
rs1662392597
|
0.00001
|
NM_001918.5(DBT):c.884A>G (p.Lys295Arg)
|
rs139216072
|
0.00001
|
NM_001918.5(DBT):c.902G>A (p.Arg301His)
|
rs770981889
|
0.00001
|
NM_001958.5(EEF1A2):c.1064C>T (p.Ala355Val)
|
rs146728528
|
0.00001
|
NM_001958.5(EEF1A2):c.1102A>G (p.Ile368Val)
|
rs2082366535
|
0.00001
|
NM_001958.5(EEF1A2):c.1136T>C (p.Ile379Thr)
|
rs1490454929
|
0.00001
|
NM_001958.5(EEF1A2):c.1382C>T (p.Ala461Val)
|
rs757556226
|
0.00001
|
NM_001958.5(EEF1A2):c.465G>A (p.Met155Ile)
|
rs1555883811
|
0.00001
|
NM_001958.5(EEF1A2):c.653G>A (p.Arg218His)
|
rs1459691759
|
0.00001
|
NM_001958.5(EEF1A2):c.667G>A (p.Ala223Thr)
|
rs778585590
|
0.00001
|
NM_001958.5(EEF1A2):c.739C>T (p.Arg247Cys)
|
rs1325353717
|
0.00001
|
NM_001985.3(ETFB):c.113T>C (p.Met38Thr)
|
rs775541180
|
0.00001
|
NM_001985.3(ETFB):c.293G>A (p.Arg98His)
|
rs761063406
|
0.00001
|
NM_001985.3(ETFB):c.438+5G>T
|
rs1450691951
|
0.00001
|
NM_001985.3(ETFB):c.571C>T (p.Arg191Cys)
|
rs772976948
|
0.00001
|
NM_001985.3(ETFB):c.572G>A (p.Arg191His)
|
rs769951998
|
0.00001
|
NM_001985.3(ETFB):c.58-87A>C
|
rs1986023015
|
0.00001
|
NM_001985.3(ETFB):c.597+6C>T
|
rs539989327
|
0.00001
|
NM_001985.3(ETFB):c.645dup (p.Val216fs)
|
rs1428088327
|
0.00001
|
NM_001985.3(ETFB):c.92C>T (p.Thr31Met)
|
rs371751519
|
0.00001
|
NM_002032.3(FTH1):c.*336A>G
|
rs1158112939
|
0.00001
|
NM_002098.6(GUCA1B):c.*445G>A
|
rs1291842196
|
0.00001
|
NM_002098.6(GUCA1B):c.*461C>T
|
rs1158441932
|
0.00001
|
NM_002098.6(GUCA1B):c.*767A>T
|
rs886061393
|
0.00001
|
NM_002098.6(GUCA1B):c.111C>A (p.Leu37=)
|
rs117959899
|
0.00001
|
NM_002098.6(GUCA1B):c.387G>A (p.Arg129=)
|
rs527241870
|
0.00001
|
NM_002098.6(GUCA1B):c.516G>A (p.Arg172=)
|
rs752988497
|
0.00001
|
NM_002108.4(HAL):c.*1548G>A
|
rs886049892
|
0.00001
|
NM_002108.4(HAL):c.*509A>T
|
rs886049899
|
0.00001
|
NM_002108.4(HAL):c.-120C>T
|
rs537728013
|
0.00001
|
NM_002108.4(HAL):c.-139C>A
|
rs1565996182
|
0.00001
|
NM_002108.4(HAL):c.-7C>T
|
rs757218014
|
0.00001
|
NM_002108.4(HAL):c.1090G>A (p.Val364Ile)
|
rs1949884460
|
0.00001
|
NM_002108.4(HAL):c.1416G>A (p.Glu472=)
|
rs372729432
|
0.00001
|
NM_002108.4(HAL):c.1764-5T>C
|
rs752249746
|
0.00001
|
NM_002108.4(HAL):c.1933C>T (p.His645Tyr)
|
rs144698271
|
0.00001
|
NM_002108.4(HAL):c.368C>T (p.Thr123Met)
|
rs139831415
|
0.00001
|
NM_002108.4(HAL):c.438G>A (p.Val146=)
|
rs1230867509
|
0.00001
|
NM_002108.4(HAL):c.9A>G (p.Arg3=)
|
rs766635201
|
0.00001
|
NM_002150.3(HPD):c.1106A>G (p.Lys369Arg)
|
rs777094600
|
0.00001
|
NM_002150.3(HPD):c.1159A>G (p.Asn387Asp)
|
rs754985728
|
0.00001
|
NM_002150.3(HPD):c.247G>A (p.Gly83Ser)
|
rs766105515
|
0.00001
|
NM_002150.3(HPD):c.274G>A (p.Gly92Arg)
|
rs771382964
|
0.00001
|
NM_002150.3(HPD):c.574G>A (p.Glu192Lys)
|
rs1877675977
|
0.00001
|
NM_002150.3(HPD):c.580G>T (p.Val194Leu)
|
rs570445297
|
0.00001
|
NM_002150.3(HPD):c.765T>C (p.Tyr255=)
|
rs767720774
|
0.00001
|
NM_002150.3(HPD):c.954+5G>A
|
rs1252680307
|
0.00001
|
NM_002225.3(IVD):c.-315C>G
|
rs886051126
|
0.00001
|
NM_002225.5(IVD):c.*1090A>G
|
rs1257277262
|
0.00001
|
NM_002225.5(IVD):c.*1117G>A
|
rs886051132
|
0.00001
|
NM_002225.5(IVD):c.*1636G>A
|
rs560135738
|
0.00001
|
NM_002225.5(IVD):c.*196G>A
|
rs1417892978
|
0.00001
|
NM_002225.5(IVD):c.*2005G>A
|
rs886051135
|
0.00001
|
NM_002225.5(IVD):c.*204T>G
|
rs886051127
|
0.00001
|
NM_002225.5(IVD):c.*652C>T
|
rs761306144
|
0.00001
|
NM_002225.5(IVD):c.*798A>G
|
rs1278287842
|
0.00001
|
NM_002225.5(IVD):c.1009C>T (p.Arg337Trp)
|
rs776608445
|
0.00001
|
NM_002225.5(IVD):c.1010G>A (p.Arg337Gln)
|
rs139908696
|
0.00001
|
NM_002225.5(IVD):c.1139-3C>G
|
rs367891946
|
0.00001
|
NM_002225.5(IVD):c.1160A>G (p.Asp387Gly)
|
rs1163816425
|
0.00001
|
NM_002225.5(IVD):c.1184G>A (p.Arg395Gln)
|
rs1477527791
|
0.00001
|
NM_002225.5(IVD):c.1205T>C (p.Ile402Thr)
|
rs763422682
|
0.00001
|
NM_002225.5(IVD):c.124C>G (p.Leu42Val)
|
rs777674887
|
0.00001
|
NM_002225.5(IVD):c.150T>A (p.Arg50=)
|
rs762440985
|
0.00001
|
NM_002225.5(IVD):c.202A>G (p.Ile68Val)
|
rs758926864
|
0.00001
|
NM_002225.5(IVD):c.227A>G (p.Asn76Ser)
|
rs1398705262
|
0.00001
|
NM_002225.5(IVD):c.263G>A (p.Gly88Asp)
|
rs779579351
|
0.00001
|
NM_002225.5(IVD):c.307C>G (p.Leu103Val)
|
rs1465206137
|
0.00001
|
NM_002225.5(IVD):c.436A>G (p.Lys146Glu)
|
rs1448656950
|
0.00001
|
NM_002225.5(IVD):c.456G>A (p.Lys152=)
|
rs886044117
|
0.00001
|
NM_002225.5(IVD):c.464G>A (p.Ser155Asn)
|
rs140182461
|
0.00001
|
NM_002225.5(IVD):c.539C>T (p.Ala180Val)
|
rs559732306
|
0.00001
|
NM_002225.5(IVD):c.710C>T (p.Ser237Phe)
|
rs1891244554
|
0.00001
|
NM_002225.5(IVD):c.726G>C (p.Lys242Asn)
|
rs794727857
|
0.00001
|
NM_002225.5(IVD):c.784+9C>T
|
rs1891254953
|
0.00001
|
NM_002225.5(IVD):c.796C>G (p.Leu266Val)
|
rs766980574
|
0.00001
|
NM_002225.5(IVD):c.803A>G (p.His268Arg)
|
rs201778625
|
0.00001
|
NM_002225.5(IVD):c.833G>C (p.Ser278Thr)
|
rs746615207
|
0.00001
|
NM_002225.5(IVD):c.994C>T (p.Arg332Cys)
|
rs1891643589
|
0.00001
|
NM_002454.3(MTRR):c.1035A>G (p.Ile345Met)
|
rs140944718
|
0.00001
|
NM_002454.3(MTRR):c.1086G>A (p.Ala362=)
|
rs750381895
|
0.00001
|
NM_002454.3(MTRR):c.1135A>G (p.Ile379Val)
|
rs746404785
|
0.00001
|
NM_002454.3(MTRR):c.1136T>G (p.Ile379Ser)
|
rs1243456483
|
0.00001
|
NM_002454.3(MTRR):c.1253G>A (p.Arg418Gln)
|
rs749461781
|
0.00001
|
NM_002454.3(MTRR):c.127A>G (p.Lys43Glu)
|
rs937595017
|
0.00001
|
NM_002454.3(MTRR):c.1574G>A (p.Arg525Gln)
|
rs1343250131
|
0.00001
|
NM_002454.3(MTRR):c.1597C>T (p.Pro533Ser)
|
rs771421325
|
0.00001
|
NM_002454.3(MTRR):c.1727T>G (p.Leu576Trp)
|
rs771123203
|
0.00001
|
NM_002454.3(MTRR):c.1769+8A>G
|
rs892239997
|
0.00001
|
NM_002454.3(MTRR):c.1844T>C (p.Val615Ala)
|
rs1318949494
|
0.00001
|
NM_002454.3(MTRR):c.1883A>G (p.Asn628Ser)
|
rs144020429
|
0.00001
|
NM_002454.3(MTRR):c.1890G>A (p.Gln630=)
|
rs9282786
|
0.00001
|
NM_002454.3(MTRR):c.313T>G (p.Cys105Gly)
|
rs1484416611
|
0.00001
|
NM_002454.3(MTRR):c.399A>G (p.Val133=)
|
rs560392566
|
0.00001
|
NM_002454.3(MTRR):c.487A>G (p.Ile163Val)
|
rs886060804
|
0.00001
|
NM_002454.3(MTRR):c.527G>C (p.Arg176Thr)
|
rs1182297284
|
0.00001
|
NM_002454.3(MTRR):c.52A>G (p.Ile18Val)
|
rs753325140
|
0.00001
|
NM_002454.3(MTRR):c.589G>C (p.Asp197His)
|
rs748186027
|
0.00001
|
NM_002454.3(MTRR):c.703C>T (p.Leu235Phe)
|
rs1238722351
|
0.00001
|
NM_002454.3(MTRR):c.735A>C (p.Leu245Phe)
|
rs1343821146
|
0.00001
|
NM_002454.3(MTRR):c.832A>G (p.Ile278Val)
|
rs1377146830
|
0.00001
|
NM_002454.3(MTRR):c.863A>G (p.Asp288Gly)
|
rs766083570
|
0.00001
|
NM_002602.4(PDE6G):c.*207G>A
|
rs926665391
|
0.00001
|
NM_002602.4(PDE6G):c.-100A>G
|
rs761456753
|
0.00001
|
NM_002860.4(ALDH18A1):c.-44G>A
|
rs1443127759
|
0.00001
|
NM_002860.4(ALDH18A1):c.1083T>C (p.Pro361=)
|
rs886047512
|
0.00001
|
NM_002860.4(ALDH18A1):c.1201G>A (p.Asp401Asn)
|
rs1242600175
|
0.00001
|
NM_002860.4(ALDH18A1):c.1233G>T (p.Leu411Phe)
|
rs758828421
|
0.00001
|
NM_002860.4(ALDH18A1):c.1274G>C (p.Arg425Pro)
|
rs1413173287
|
0.00001
|
NM_002860.4(ALDH18A1):c.1315G>A (p.Gly439Ser)
|
rs141292408
|
0.00001
|
NM_002860.4(ALDH18A1):c.1448G>A (p.Arg483His)
|
rs756168752
|
0.00001
|
NM_002860.4(ALDH18A1):c.1493G>T (p.Gly498Val)
|
rs569086681
|
0.00001
|
NM_002860.4(ALDH18A1):c.1589A>C (p.Lys530Thr)
|
rs560598479
|
0.00001
|
NM_002860.4(ALDH18A1):c.1598T>G (p.Val533Gly)
|
rs796197665
|
0.00001
|
NM_002860.4(ALDH18A1):c.1636T>C (p.Cys546Arg)
|
rs753157831
|
0.00001
|
NM_002860.4(ALDH18A1):c.164G>A (p.Arg55His)
|
rs754880517
|
0.00001
|
NM_002860.4(ALDH18A1):c.1732G>C (p.Gly578Arg)
|
rs1085307606
|
0.00001
|
NM_002860.4(ALDH18A1):c.1741G>A (p.Glu581Lys)
|
rs777991529
|
0.00001
|
NM_002860.4(ALDH18A1):c.1797G>C (p.Arg599Ser)
|
rs752764884
|
0.00001
|
NM_002860.4(ALDH18A1):c.1942C>T (p.Pro648Ser)
|
rs768964431
|
0.00001
|
NM_002860.4(ALDH18A1):c.2077A>G (p.Ser693Gly)
|
rs1363547996
|
0.00001
|
NM_002860.4(ALDH18A1):c.2110G>A (p.Glu704Lys)
|
rs758219423
|
0.00001
|
NM_002860.4(ALDH18A1):c.2140G>A (p.Val714Ile)
|
rs756291410
|
0.00001
|
NM_002860.4(ALDH18A1):c.2194C>T (p.Arg732Cys)
|
rs760203992
|
0.00001
|
NM_002860.4(ALDH18A1):c.2293C>T (p.Arg765Ter)
|
rs1462559161
|
0.00001
|
NM_002860.4(ALDH18A1):c.512C>T (p.Ala171Val)
|
rs1268586078
|
0.00001
|
NM_002860.4(ALDH18A1):c.558+6A>G
|
rs751771445
|
0.00001
|
NM_002860.4(ALDH18A1):c.598C>T (p.Arg200Cys)
|
rs201801058
|
0.00001
|
NM_002860.4(ALDH18A1):c.602G>A (p.Arg201Gln)
|
rs757660360
|
0.00001
|
NM_002860.4(ALDH18A1):c.781C>A (p.Leu261Ile)
|
rs200172733
|
0.00001
|
NM_002860.4(ALDH18A1):c.809-13G>A
|
rs756690468
|
0.00001
|
NM_002860.4(ALDH18A1):c.809-3T>G
|
rs755947818
|
0.00001
|
NM_002860.4(ALDH18A1):c.842C>T (p.Ala281Val)
|
rs886047513
|
0.00001
|
NM_002860.4(ALDH18A1):c.934-7T>A
|
rs772389382
|
0.00001
|
NM_002900.3(RBP3):c.1008C>T (p.Val336=)
|
rs782299182
|
0.00001
|
NM_002900.3(RBP3):c.1044C>T (p.Pro348=)
|
rs547601457
|
0.00001
|
NM_002900.3(RBP3):c.1135G>A (p.Ala379Thr)
|
rs781840247
|
0.00001
|
NM_002900.3(RBP3):c.1146T>G (p.Asp382Glu)
|
rs782731785
|
0.00001
|
NM_002900.3(RBP3):c.1294G>C (p.Val432Leu)
|
rs1555211188
|
0.00001
|
NM_002900.3(RBP3):c.1323C>T (p.Tyr441=)
|
rs782282118
|
0.00001
|
NM_002900.3(RBP3):c.1399C>T (p.Pro467Ser)
|
rs782195686
|
0.00001
|
NM_002900.3(RBP3):c.1778T>C (p.Val593Ala)
|
rs782233167
|
0.00001
|
NM_002900.3(RBP3):c.2121G>A (p.Glu707=)
|
rs886047017
|
0.00001
|
NM_002900.3(RBP3):c.2240G>A (p.Arg747His)
|
rs199953057
|
0.00001
|
NM_002900.3(RBP3):c.2789T>C (p.Ile930Thr)
|
rs370922435
|
0.00001
|
NM_002900.3(RBP3):c.3581C>T (p.Thr1194Met)
|
rs782099994
|
0.00001
|
NM_002900.3(RBP3):c.365G>A (p.Arg122His)
|
rs41302693
|
0.00001
|
NM_002900.3(RBP3):c.722A>T (p.Asp241Val)
|
rs782211857
|
0.00001
|
NM_002900.3(RBP3):c.787G>T (p.Ala263Ser)
|
rs77257977
|
0.00001
|
NM_002900.3(RBP3):c.800G>A (p.Arg267Gln)
|
rs200239015
|
0.00001
|
NM_002900.3(RBP3):c.934G>A (p.Ala312Thr)
|
rs1020582345
|
0.00001
|
NM_003038.5(SLC1A4):c.272T>C (p.Leu91Pro)
|
rs1037527372
|
0.00001
|
NM_003042.4(SLC6A1):c.1191+3del
|
rs1486885212
|
0.00001
|
NM_003042.4(SLC6A1):c.1255C>T (p.Arg419Cys)
|
rs910130675
|
0.00001
|
NM_003042.4(SLC6A1):c.1426G>A (p.Gly476Ser)
|
rs1328806521
|
0.00001
|
NM_003042.4(SLC6A1):c.1526C>T (p.Ala509Val)
|
rs769577441
|
0.00001
|
NM_003042.4(SLC6A1):c.1530C>T (p.Gly510=)
|
rs199832552
|
0.00001
|
NM_003042.4(SLC6A1):c.1664T>C (p.Met555Thr)
|
rs755011081
|
0.00001
|
NM_003042.4(SLC6A1):c.1696-3C>T
|
rs763356899
|
0.00001
|
NM_003042.4(SLC6A1):c.1748G>T (p.Gly583Val)
|
rs1274193602
|
0.00001
|
NM_003042.4(SLC6A1):c.238+5G>T
|
rs747465142
|
0.00001
|
NM_003042.4(SLC6A1):c.28G>A (p.Asp10Asn)
|
rs751108300
|
0.00001
|
NM_003042.4(SLC6A1):c.582-3C>T
|
rs368174761
|
0.00001
|
NM_003042.4(SLC6A1):c.589A>G (p.Met197Val)
|
rs1031299891
|
0.00001
|
NM_003042.4(SLC6A1):c.593A>G (p.His198Arg)
|
rs1697439559
|
0.00001
|
NM_003042.4(SLC6A1):c.714+5G>A
|
rs770987659
|
0.00001
|
NM_003042.4(SLC6A1):c.75C>G (p.Asp25Glu)
|
rs142007193
|
0.00001
|
NM_003042.4(SLC6A1):c.797A>G (p.Glu266Gly)
|
rs1027128426
|
0.00001
|
NM_003042.4(SLC6A1):c.79C>T (p.Pro27Ser)
|
rs1395387100
|
0.00001
|
NM_003042.4(SLC6A1):c.90G>C (p.Leu30Phe)
|
rs1271404941
|
0.00001
|
NM_003042.4(SLC6A1):c.946G>A (p.Val316Ile)
|
rs1409813316
|
0.00001
|
NM_003060.4(SLC22A5):c.*322C>A
|
rs1220869401
|
0.00001
|
NM_003060.4(SLC22A5):c.*484G>A
|
rs760545883
|
0.00001
|
NM_003060.4(SLC22A5):c.1021C>T (p.Arg341Trp)
|
rs780990156
|
0.00001
|
NM_003060.4(SLC22A5):c.1055T>G (p.Met352Arg)
|
rs1275349783
|
0.00001
|
NM_003060.4(SLC22A5):c.1073A>C (p.Tyr358Ser)
|
rs1266953756
|
0.00001
|
NM_003060.4(SLC22A5):c.1116C>G (p.Ile372Met)
|
rs753461448
|
0.00001
|
NM_003060.4(SLC22A5):c.1139C>T (p.Ala380Val)
|
rs746187344
|
0.00001
|
NM_003060.4(SLC22A5):c.113C>A (p.Ser38Tyr)
|
rs369354736
|
0.00001
|
NM_003060.4(SLC22A5):c.118G>A (p.Val40Met)
|
rs148657753
|
0.00001
|
NM_003060.4(SLC22A5):c.1198C>T (p.Arg400Cys)
|
rs1249681027
|
0.00001
|
NM_003060.4(SLC22A5):c.1219C>T (p.Leu407Phe)
|
rs754913053
|
0.00001
|
NM_003060.4(SLC22A5):c.1228G>A (p.Gly410Ser)
|
rs1331373451
|
0.00001
|
NM_003060.4(SLC22A5):c.122T>G (p.Phe41Cys)
|
rs1335556134
|
0.00001
|
NM_003060.4(SLC22A5):c.1238T>G (p.Val413Gly)
|
rs1224278173
|
0.00001
|
NM_003060.4(SLC22A5):c.1251G>A (p.Met417Ile)
|
rs756473868
|
0.00001
|
NM_003060.4(SLC22A5):c.1262C>T (p.Pro421Leu)
|
rs1436718402
|
0.00001
|
NM_003060.4(SLC22A5):c.1310T>C (p.Phe437Ser)
|
rs1335183542
|
0.00001
|
NM_003060.4(SLC22A5):c.1342G>A (p.Val448Met)
|
rs386134219
|
0.00001
|
NM_003060.4(SLC22A5):c.1360T>C (p.Tyr454His)
|
rs766555353
|
0.00001
|
NM_003060.4(SLC22A5):c.1364C>G (p.Pro455Arg)
|
rs1408166345
|
0.00001
|
NM_003060.4(SLC22A5):c.1394T>G (p.Val465Gly)
|
rs917270911
|
0.00001
|
NM_003060.4(SLC22A5):c.1409C>T (p.Ser470Phe)
|
rs386134222
|
0.00001
|
NM_003060.4(SLC22A5):c.1483A>G (p.Met495Val)
|
rs1023956374
|
0.00001
|
NM_003060.4(SLC22A5):c.1510A>G (p.Ile504Val)
|
rs1417574754
|
0.00001
|
NM_003060.4(SLC22A5):c.1520T>C (p.Leu507Ser)
|
rs1157198543
|
0.00001
|
NM_003060.4(SLC22A5):c.1540G>A (p.Gly514Ser)
|
rs551153027
|
0.00001
|
NM_003060.4(SLC22A5):c.1545C>G (p.Thr515=)
|
rs1256876367
|
0.00001
|
NM_003060.4(SLC22A5):c.1621A>T (p.Met541Leu)
|
rs758158685
|
0.00001
|
NM_003060.4(SLC22A5):c.163G>A (p.Ala55Thr)
|
rs1356287812
|
0.00001
|
NM_003060.4(SLC22A5):c.1641A>C (p.Glu547Asp)
|
rs1485984674
|
0.00001
|
NM_003060.4(SLC22A5):c.1651A>G (p.Ile551Val)
|
rs745329092
|
0.00001
|
NM_003060.4(SLC22A5):c.171C>G (p.Asn57Lys)
|
rs1354240252
|
0.00001
|
NM_003060.4(SLC22A5):c.197C>T (p.Thr66Ile)
|
rs1169005119
|
0.00001
|
NM_003060.4(SLC22A5):c.217G>C (p.Asp73His)
|
rs778137386
|
0.00001
|
NM_003060.4(SLC22A5):c.221G>A (p.Gly74Asp)
|
rs1031179639
|
0.00001
|
NM_003060.4(SLC22A5):c.224G>C (p.Arg75Pro)
|
rs757711838
|
0.00001
|
NM_003060.4(SLC22A5):c.244C>A (p.Arg82Ser)
|
rs955061461
|
0.00001
|
NM_003060.4(SLC22A5):c.244C>T (p.Arg82Cys)
|
rs955061461
|
0.00001
|
NM_003060.4(SLC22A5):c.254G>A (p.Arg85Gln)
|
rs761608940
|
0.00001
|
NM_003060.4(SLC22A5):c.26C>T (p.Ala9Val)
|
rs753998904
|
0.00001
|
NM_003060.4(SLC22A5):c.28T>C (p.Phe10Leu)
|
rs759420042
|
0.00001
|
NM_003060.4(SLC22A5):c.298G>C (p.Gly100Arg)
|
rs779263168
|
0.00001
|
NM_003060.4(SLC22A5):c.338G>A (p.Cys113Tyr)
|
rs727504159
|
0.00001
|
NM_003060.4(SLC22A5):c.349T>C (p.Trp117Arg)
|
rs398123692
|
0.00001
|
NM_003060.4(SLC22A5):c.363G>T (p.Gln121His)
|
rs758991830
|
0.00001
|
NM_003060.4(SLC22A5):c.371A>G (p.Tyr124Cys)
|
rs762126547
|
0.00001
|
NM_003060.4(SLC22A5):c.382A>G (p.Ile128Val)
|
rs772405276
|
0.00001
|
NM_003060.4(SLC22A5):c.391G>A (p.Glu131Lys)
|
rs1321705165
|
0.00001
|
NM_003060.4(SLC22A5):c.394-16T>A
|
rs775097754
|
0.00001
|
NM_003060.4(SLC22A5):c.397A>C (p.Asn133His)
|
rs1268928609
|
0.00001
|
NM_003060.4(SLC22A5):c.428C>T (p.Pro143Leu)
|
rs1178584184
|
0.00001
|
NM_003060.4(SLC22A5):c.42G>C (p.Trp14Cys)
|
rs796052036
|
0.00001
|
NM_003060.4(SLC22A5):c.557T>C (p.Leu186Pro)
|
rs386134197
|
0.00001
|
NM_003060.4(SLC22A5):c.569C>T (p.Ser190Leu)
|
rs766106506
|
0.00001
|
NM_003060.4(SLC22A5):c.583A>G (p.Met195Val)
|
rs1194966941
|
0.00001
|
NM_003060.4(SLC22A5):c.613A>C (p.Met205Leu)
|
rs1322301830
|
0.00001
|
NM_003060.4(SLC22A5):c.637G>A (p.Ala213Thr)
|
rs749602236
|
0.00001
|
NM_003060.4(SLC22A5):c.652+3A>G
|
rs774833531
|
0.00001
|
NM_003060.4(SLC22A5):c.677T>A (p.Val226Asp)
|
rs373199019
|
0.00001
|
NM_003060.4(SLC22A5):c.763G>A (p.Asp255Asn)
|
rs774619135
|
0.00001
|
NM_003060.4(SLC22A5):c.77G>A (p.Ser26Asn)
|
rs772578415
|
0.00001
|
NM_003060.4(SLC22A5):c.785C>T (p.Ala262Val)
|
rs752989096
|
0.00001
|
NM_003060.4(SLC22A5):c.825G>T (p.Trp275Cys)
|
rs386134207
|
0.00001
|
NM_003060.4(SLC22A5):c.850C>T (p.Leu284Phe)
|
rs150278881
|
0.00001
|
NM_003060.4(SLC22A5):c.911A>G (p.Asn304Ser)
|
rs746559733
|
0.00001
|
NM_003060.4(SLC22A5):c.926C>T (p.Pro309Leu)
|
rs1252043783
|
0.00001
|
NM_003060.4(SLC22A5):c.932C>G (p.Thr311Ser)
|
rs770408585
|
0.00001
|
NM_003060.4(SLC22A5):c.944C>T (p.Pro315Leu)
|
rs200697217
|
0.00001
|
NM_003060.4(SLC22A5):c.949G>A (p.Glu317Lys)
|
rs774792831
|
0.00001
|
NM_003060.4(SLC22A5):c.961C>G (p.Leu321Val)
|
rs761264590
|
0.00001
|
NM_003124.5(SPR):c.*607A>C
|
rs1176601691
|
0.00001
|
NM_003124.5(SPR):c.23C>T (p.Ala8Val)
|
rs775850923
|
0.00001
|
NM_003124.5(SPR):c.610G>C (p.Asp204His)
|
rs1430511579
|
0.00001
|
NM_003322.6(TULP1):c.1345C>T (p.Arg449Cys)
|
rs1480273410
|
0.00001
|
NM_003322.6(TULP1):c.1569C>T (p.Cys523=)
|
rs768536269
|
0.00001
|
NM_003322.6(TULP1):c.1597T>C (p.Ser533Pro)
|
rs769287941
|
0.00001
|
NM_003322.6(TULP1):c.192T>C (p.Ala64=)
|
rs886061337
|
0.00001
|
NM_003322.6(TULP1):c.254A>G (p.Gln85Arg)
|
rs754040672
|
0.00001
|
NM_003322.6(TULP1):c.349G>A (p.Glu117Lys)
|
rs527236117
|
0.00001
|
NM_003322.6(TULP1):c.904G>A (p.Gly302Ser)
|
rs765321084
|
0.00001
|
NM_003611.3(OFD1):c.1468G>A (p.Glu490Lys)
|
rs1454731121
|
0.00001
|
NM_003611.3(OFD1):c.1999G>A (p.Ala667Thr)
|
rs1394450537
|
0.00001
|
NM_003611.3(OFD1):c.2297G>T (p.Cys766Phe)
|
rs774888576
|
0.00001
|
NM_003611.3(OFD1):c.3021A>T (p.Glu1007Asp)
|
rs1235702491
|
0.00001
|
NM_003611.3(OFD1):c.74A>G (p.Gln25Arg)
|
rs1158126675
|
0.00001
|
NM_003611.3(OFD1):c.892G>A (p.Gly298Arg)
|
rs778349684
|
0.00001
|
NM_003611.3(OFD1):c.935+4A>G
|
rs1243725011
|
0.00001
|
NM_003611.3(OFD1):c.967A>G (p.Ser323Gly)
|
rs764424025
|
0.00001
|
NM_003748.4(ALDH4A1):c.*1041G>A
|
rs1371841928
|
0.00001
|
NM_003748.4(ALDH4A1):c.*1152G>T
|
rs886045702
|
0.00001
|
NM_003748.4(ALDH4A1):c.*690G>A
|
rs886045704
|
0.00001
|
NM_003748.4(ALDH4A1):c.1185+4C>T
|
rs746106042
|
0.00001
|
NM_003748.4(ALDH4A1):c.1240A>G (p.Thr414Ala)
|
rs746859503
|
0.00001
|
NM_003748.4(ALDH4A1):c.1369G>A (p.Val457Ile)
|
rs199828375
|
0.00001
|
NM_003748.4(ALDH4A1):c.1439G>A (p.Gly480Glu)
|
rs762708368
|
0.00001
|
NM_003748.4(ALDH4A1):c.157-14G>A
|
rs904113931
|
0.00001
|
NM_003748.4(ALDH4A1):c.1580-5C>T
|
rs777379037
|
0.00001
|
NM_003748.4(ALDH4A1):c.16C>T (p.Pro6Ser)
|
rs1212781668
|
0.00001
|
NM_003748.4(ALDH4A1):c.208G>A (p.Asp70Asn)
|
rs1319600530
|
0.00001
|
NM_003748.4(ALDH4A1):c.337C>T (p.Arg113Trp)
|
rs142923662
|
0.00001
|
NM_003748.4(ALDH4A1):c.338G>A (p.Arg113Gln)
|
rs371321697
|
0.00001
|
NM_003748.4(ALDH4A1):c.362T>C (p.Ile121Thr)
|
rs758188756
|
0.00001
|
NM_003748.4(ALDH4A1):c.512G>A (p.Arg171Gln)
|
rs767459105
|
0.00001
|
NM_003748.4(ALDH4A1):c.593G>A (p.Arg198Gln)
|
rs752816518
|
0.00001
|
NM_003748.4(ALDH4A1):c.659C>T (p.Ala220Val)
|
rs199643601
|
0.00001
|
NM_003748.4(ALDH4A1):c.874A>C (p.Lys292Gln)
|
rs746880995
|
0.00001
|
NM_003748.4(ALDH4A1):c.876A>G (p.Lys292=)
|
rs775591571
|
0.00001
|
NM_003748.4(ALDH4A1):c.974G>A (p.Arg325His)
|
rs1272594909
|
0.00001
|
NM_003982.4(SLC7A7):c.*16C>T
|
rs375108350
|
0.00001
|
NM_003982.4(SLC7A7):c.*227G>A
|
rs754340252
|
0.00001
|
NM_003982.4(SLC7A7):c.1012G>A (p.Gly338Ser)
|
rs755387204
|
0.00001
|
NM_003982.4(SLC7A7):c.1053C>G (p.Ile351Met)
|
rs1384004540
|
0.00001
|
NM_003982.4(SLC7A7):c.1125G>C (p.Val375=)
|
rs371346432
|
0.00001
|
NM_003982.4(SLC7A7):c.1189A>G (p.Ile397Val)
|
rs756936473
|
0.00001
|
NM_003982.4(SLC7A7):c.1262C>T (p.Pro421Leu)
|
rs756903324
|
0.00001
|
NM_003982.4(SLC7A7):c.1282A>C (p.Thr428Pro)
|
rs1219626541
|
0.00001
|
NM_003982.4(SLC7A7):c.1340T>C (p.Ile447Thr)
|
rs1459950013
|
0.00001
|
NM_003982.4(SLC7A7):c.1403G>A (p.Arg468Gln)
|
rs746907619
|
0.00001
|
NM_003982.4(SLC7A7):c.1451A>G (p.Gln484Arg)
|
rs773635994
|
0.00001
|
NM_003982.4(SLC7A7):c.1460G>A (p.Cys487Tyr)
|
rs755163036
|
0.00001
|
NM_003982.4(SLC7A7):c.1497A>C (p.Gly499=)
|
rs1566438384
|
0.00001
|
NM_003982.4(SLC7A7):c.1505T>C (p.Met502Thr)
|
rs762335275
|
0.00001
|
NM_003982.4(SLC7A7):c.208G>C (p.Gly70Arg)
|
rs1195832434
|
0.00001
|
NM_003982.4(SLC7A7):c.242T>C (p.Leu81Pro)
|
rs755890052
|
0.00001
|
NM_003982.4(SLC7A7):c.313G>A (p.Ala105Thr)
|
rs775943127
|
0.00001
|
NM_003982.4(SLC7A7):c.380T>C (p.Ile127Thr)
|
rs764284986
|
0.00001
|
NM_003982.4(SLC7A7):c.548T>C (p.Val183Ala)
|
rs771965858
|
0.00001
|
NM_003982.4(SLC7A7):c.585G>A (p.Leu195=)
|
rs768649205
|
0.00001
|
NM_003982.4(SLC7A7):c.590C>T (p.Ala197Val)
|
rs780597284
|
0.00001
|
NM_003982.4(SLC7A7):c.740A>G (p.Tyr247Cys)
|
rs765105909
|
0.00001
|
NM_003982.4(SLC7A7):c.857A>G (p.Asp286Gly)
|
rs777555880
|
0.00001
|
NM_003982.4(SLC7A7):c.860T>G (p.Met287Arg)
|
rs755142027
|
0.00001
|
NM_003982.4(SLC7A7):c.998+9G>C
|
rs1350841635
|
0.00001
|
NM_004113.6(FGF12):c.125-3C>G
|
rs371917110
|
0.00001
|
NM_004170.6(SLC1A1):c.*1374T>C
|
rs886063977
|
0.00001
|
NM_004170.6(SLC1A1):c.*1504T>G
|
rs538055778
|
0.00001
|
NM_004170.6(SLC1A1):c.*161G>A
|
rs886063967
|
0.00001
|
NM_004170.6(SLC1A1):c.*175G>A
|
rs564856405
|
0.00001
|
NM_004170.6(SLC1A1):c.*1805A>G
|
rs1238842608
|
0.00001
|
NM_004170.6(SLC1A1):c.*43C>T
|
rs758475672
|
0.00001
|
NM_004170.6(SLC1A1):c.*673G>A
|
rs1586879875
|
0.00001
|
NM_004170.6(SLC1A1):c.1087G>A (p.Ala363Thr)
|
rs757336485
|
0.00001
|
NM_004170.6(SLC1A1):c.1150T>C (p.Leu384=)
|
rs751848390
|
0.00001
|
NM_004170.6(SLC1A1):c.1194-10G>A
|
rs566103854
|
0.00001
|
NM_004170.6(SLC1A1):c.120A>G (p.Glu40=)
|
rs749298509
|
0.00001
|
NM_004170.6(SLC1A1):c.1483G>A (p.Glu495Lys)
|
rs764152210
|
0.00001
|
NM_004170.6(SLC1A1):c.484-12T>A
|
rs371593428
|
0.00001
|
NM_004170.6(SLC1A1):c.497G>A (p.Arg166His)
|
rs775390587
|
0.00001
|
NM_004170.6(SLC1A1):c.767+7A>C
|
rs1293813233
|
0.00001
|
NM_004170.6(SLC1A1):c.789G>C (p.Leu263Phe)
|
rs372322897
|
0.00001
|
NM_004170.6(SLC1A1):c.893T>C (p.Ile298Thr)
|
rs376139002
|
0.00001
|
NM_004171.4(SLC1A2):c.1225G>A (p.Ala409Thr)
|
rs1022532582
|
0.00001
|
NM_004171.4(SLC1A2):c.877G>A (p.Ala293Thr)
|
rs956332291
|
0.00001
|
NM_004172.5(SLC1A3):c.*1160T>C
|
rs886060548
|
0.00001
|
NM_004172.5(SLC1A3):c.-20C>A
|
rs759949496
|
0.00001
|
NM_004172.5(SLC1A3):c.1025G>A (p.Arg342Gln)
|
rs780762087
|
0.00001
|
NM_004172.5(SLC1A3):c.1167C>T (p.Phe389=)
|
rs372548093
|
0.00001
|
NM_004172.5(SLC1A3):c.212A>G (p.Tyr71Cys)
|
rs573483474
|
0.00001
|
NM_004172.5(SLC1A3):c.28A>G (p.Lys10Glu)
|
rs754763002
|
0.00001
|
NM_004172.5(SLC1A3):c.297T>G (p.Leu99=)
|
rs754571819
|
0.00001
|
NM_004172.5(SLC1A3):c.374T>C (p.Val125Ala)
|
rs764799721
|
0.00001
|
NM_004172.5(SLC1A3):c.476G>A (p.Gly159Asp)
|
rs1167788931
|
0.00001
|
NM_004172.5(SLC1A3):c.641T>C (p.Ile214Thr)
|
rs761385978
|
0.00001
|
NM_004172.5(SLC1A3):c.770T>C (p.Ile257Thr)
|
rs145397429
|
0.00001
|
NM_004172.5(SLC1A3):c.825C>T (p.Asn275=)
|
rs201765665
|
0.00001
|
NM_004183.4(BEST1):c.1267G>A (p.Glu423Lys)
|
rs779855350
|
0.00001
|
NM_004183.4(BEST1):c.1457C>T (p.Pro486Leu)
|
rs886048428
|
0.00001
|
NM_004183.4(BEST1):c.152+6G>T
|
rs764420497
|
0.00001
|
NM_004183.4(BEST1):c.1532A>G (p.Lys511Arg)
|
rs1199787091
|
0.00001
|
NM_004183.4(BEST1):c.699A>G (p.Pro233=)
|
rs760816505
|
0.00001
|
NM_004183.4(BEST1):c.813C>T (p.Leu271=)
|
rs370397270
|
0.00001
|
NM_004183.4(BEST1):c.822C>T (p.Pro274=)
|
rs759678509
|
0.00001
|
NM_004183.4(BEST1):c.861G>C (p.Trp287Cys)
|
rs1474961573
|
0.00001
|
NM_004279.3(PMPCB):c.1087T>C (p.Trp363Arg)
|
rs752266462
|
0.00001
|
NM_004279.3(PMPCB):c.470T>G (p.Leu157Arg)
|
rs777654434
|
0.00001
|
NM_004408.4(DNM1):c.103G>T (p.Ala35Ser)
|
rs1404767209
|
0.00001
|
NM_004408.4(DNM1):c.1199C>T (p.Thr400Met)
|
rs750618124
|
0.00001
|
NM_004408.4(DNM1):c.1268C>T (p.Pro423Leu)
|
rs1373361613
|
0.00001
|
NM_004408.4(DNM1):c.1399C>T (p.Arg467Cys)
|
rs769485700
|
0.00001
|
NM_004408.4(DNM1):c.1545+6T>C
|
rs368249222
|
0.00001
|
NM_004408.4(DNM1):c.1558-3C>T
|
rs546517702
|
0.00001
|
NM_004408.4(DNM1):c.1891G>C (p.Gly631Arg)
|
rs1333859821
|
0.00001
|
NM_004408.4(DNM1):c.2076+4C>T
|
rs374379668
|
0.00001
|
NM_004408.4(DNM1):c.2173C>T (p.Arg725Cys)
|
rs1414107946
|
0.00001
|
NM_004408.4(DNM1):c.2178C>A (p.Asp726Glu)
|
rs745835138
|
0.00001
|
NM_004408.4(DNM1):c.2423C>T (p.Ala808Val)
|
rs1474835177
|
0.00001
|
NM_004408.4(DNM1):c.2435C>A (p.Ala812Glu)
|
rs1353174747
|
0.00001
|
NM_004408.4(DNM1):c.2455C>T (p.Pro819Ser)
|
rs1131692001
|
0.00001
|
NM_004408.4(DNM1):c.2527G>A (p.Val843Ile)
|
rs1006999214
|
0.00001
|
NM_004408.4(DNM1):c.267G>T (p.Lys89Asn)
|
rs1229779896
|
0.00001
|
NM_004408.4(DNM1):c.292C>G (p.Arg98Gly)
|
rs1206732749
|
0.00001
|
NM_004408.4(DNM1):c.358A>G (p.Ile120Val)
|
rs1057520197
|
0.00001
|
NM_004408.4(DNM1):c.384C>T (p.His128=)
|
rs535527521
|
0.00001
|
NM_004408.4(DNM1):c.386-8C>T
|
rs764950748
|
0.00001
|
NM_004408.4(DNM1):c.584C>T (p.Pro195Leu)
|
rs780514615
|
0.00001
|
NM_004408.4(DNM1):c.595C>T (p.Arg199Cys)
|
rs1485891906
|
0.00001
|
NM_004408.4(DNM1):c.650G>A (p.Arg217His)
|
rs753953686
|
0.00001
|
NM_004408.4(DNM1):c.695T>C (p.Ile232Thr)
|
rs766504829
|
0.00001
|
NM_004408.4(DNM1):c.775T>C (p.Phe259Leu)
|
rs1431736054
|
0.00001
|
NM_004408.4(DNM1):c.827A>G (p.Tyr276Cys)
|
rs752917058
|
0.00001
|
NM_004408.4(DNM1):c.890G>A (p.Arg297Gln)
|
rs1321080189
|
0.00001
|
NM_004408.4(DNM1):c.946A>G (p.Asn316Asp)
|
rs1214581005
|
0.00001
|
NM_004453.4(ETFDH):c.-77C>G
|
rs1296122115
|
0.00001
|
NM_004453.4(ETFDH):c.1004G>C (p.Ser335Thr)
|
rs770140708
|
0.00001
|
NM_004453.4(ETFDH):c.1005T>G (p.Ser335Arg)
|
rs1452265763
|
0.00001
|
NM_004453.4(ETFDH):c.1036C>T (p.His346Tyr)
|
rs749456492
|
0.00001
|
NM_004453.4(ETFDH):c.1079C>T (p.Ala360Val)
|
rs776428695
|
0.00001
|
NM_004453.4(ETFDH):c.1175T>C (p.Met392Thr)
|
rs1774520171
|
0.00001
|
NM_004453.4(ETFDH):c.1255A>T (p.Thr419Ser)
|
rs574791445
|
0.00001
|
NM_004453.4(ETFDH):c.12G>A (p.Pro4=)
|
rs373776053
|
0.00001
|
NM_004453.4(ETFDH):c.1331T>C (p.Val444Ala)
|
rs760234838
|
0.00001
|
NM_004453.4(ETFDH):c.1334G>T (p.Trp445Leu)
|
rs763536356
|
0.00001
|
NM_004453.4(ETFDH):c.1345T>C (p.Tyr449His)
|
rs750799644
|
0.00001
|
NM_004453.4(ETFDH):c.1369T>C (p.Ser457Pro)
|
rs1404615636
|
0.00001
|
NM_004453.4(ETFDH):c.1378G>A (p.Gly460Arg)
|
rs989125087
|
0.00001
|
NM_004453.4(ETFDH):c.1457T>C (p.Leu486Pro)
|
rs751839607
|
0.00001
|
NM_004453.4(ETFDH):c.1483C>T (p.Arg495Trp)
|
rs774810601
|
0.00001
|
NM_004453.4(ETFDH):c.148C>T (p.Pro50Ser)
|
rs937646249
|
0.00001
|
NM_004453.4(ETFDH):c.1530C>T (p.Pro510=)
|
rs754795292
|
0.00001
|
NM_004453.4(ETFDH):c.1653G>A (p.Ser551=)
|
rs1408118210
|
0.00001
|
NM_004453.4(ETFDH):c.1668C>T (p.Pro556=)
|
rs747312700
|
0.00001
|
NM_004453.4(ETFDH):c.1669G>A (p.Glu557Lys)
|
rs1279728239
|
0.00001
|
NM_004453.4(ETFDH):c.1676G>A (p.Arg559Gln)
|
rs768961719
|
0.00001
|
NM_004453.4(ETFDH):c.1678T>C (p.Phe560Leu)
|
rs374585539
|
0.00001
|
NM_004453.4(ETFDH):c.1758T>C (p.Cys586=)
|
rs755342205
|
0.00001
|
NM_004453.4(ETFDH):c.1813G>T (p.Val605Leu)
|
rs1774702955
|
0.00001
|
NM_004453.4(ETFDH):c.1823G>A (p.Gly608Asp)
|
rs1303489545
|
0.00001
|
NM_004453.4(ETFDH):c.1852T>C (p.Ter618Gln)
|
rs765742496
|
0.00001
|
NM_004453.4(ETFDH):c.256C>T (p.Arg86Cys)
|
rs1242099513
|
0.00001
|
NM_004453.4(ETFDH):c.257G>A (p.Arg86His)
|
rs777655131
|
0.00001
|
NM_004453.4(ETFDH):c.414T>G (p.Leu138=)
|
rs751256504
|
0.00001
|
NM_004453.4(ETFDH):c.472G>A (p.Val158Met)
|
rs774614480
|
0.00001
|
NM_004453.4(ETFDH):c.586C>G (p.Pro196Ala)
|
rs201067972
|
0.00001
|
NM_004453.4(ETFDH):c.679C>A (p.Pro227Thr)
|
rs141407224
|
0.00001
|
NM_004453.4(ETFDH):c.689C>T (p.Thr230Ile)
|
rs999532162
|
0.00001
|
NM_004453.4(ETFDH):c.728T>C (p.Ile243Thr)
|
rs1397900640
|
0.00001
|
NM_004453.4(ETFDH):c.731T>C (p.Phe244Ser)
|
rs1448673327
|
0.00001
|
NM_004453.4(ETFDH):c.733G>A (p.Ala245Thr)
|
rs371260517
|
0.00001
|
NM_004453.4(ETFDH):c.79C>T (p.Pro27Ser)
|
rs537038850
|
0.00001
|
NM_004453.4(ETFDH):c.814G>A (p.Gly272Arg)
|
rs763541530
|
0.00001
|
NM_004453.4(ETFDH):c.835T>C (p.Trp279Arg)
|
rs754082348
|
0.00001
|
NM_004453.4(ETFDH):c.843T>A (p.Ile281=)
|
rs765239908
|
0.00001
|
NM_004453.4(ETFDH):c.881C>G (p.Thr294Ser)
|
rs748958949
|
0.00001
|
NM_004453.4(ETFDH):c.937A>G (p.Asn313Asp)
|
rs762031780
|
0.00001
|
NM_004453.4(ETFDH):c.940G>C (p.Glu314Gln)
|
rs201579588
|
0.00001
|
NM_004453.4(ETFDH):c.950C>T (p.Pro317Leu)
|
rs1394204740
|
0.00001
|
NM_004483.5(GCSH):c.115C>T (p.Arg39Cys)
|
rs1245942364
|
0.00001
|
NM_004483.5(GCSH):c.133C>G (p.Pro45Ala)
|
rs1972502072
|
0.00001
|
NM_004483.5(GCSH):c.19C>T (p.Arg7Trp)
|
rs976425490
|
0.00001
|
NM_004483.5(GCSH):c.231A>C (p.Glu77Asp)
|
rs1236344907
|
0.00001
|
NM_004483.5(GCSH):c.329G>A (p.Ser110Asn)
|
rs779721507
|
0.00001
|
NM_004483.5(GCSH):c.364G>A (p.Glu122Lys)
|
rs753037667
|
0.00001
|
NM_004483.5(GCSH):c.400G>A (p.Val134Ile)
|
rs766903708
|
0.00001
|
NM_004483.5(GCSH):c.413G>A (p.Cys138Tyr)
|
rs540817676
|
0.00001
|
NM_004483.5(GCSH):c.44C>T (p.Thr15Ile)
|
rs1339562877
|
0.00001
|
NM_004483.5(GCSH):c.49C>T (p.Arg17Cys)
|
rs967101315
|
0.00001
|
NM_004483.5(GCSH):c.512T>C (p.Ile171Thr)
|
rs770835365
|
0.00001
|
NM_004577.3(PSPH):c.-715T>C
|
rs886062398
|
0.00001
|
NM_004577.4(PSPH):c.-461A>G
|
rs886062394
|
0.00001
|
NM_004577.4(PSPH):c.235C>T (p.Leu79Phe)
|
rs201222280
|
0.00001
|
NM_004577.4(PSPH):c.289C>T (p.Arg97Cys)
|
rs754344374
|
0.00001
|
NM_004577.4(PSPH):c.386A>G (p.Asn129Ser)
|
rs771251320
|
0.00001
|
NM_004577.4(PSPH):c.446C>T (p.Thr149Met)
|
rs374024099
|
0.00001
|
NM_004577.4(PSPH):c.467G>A (p.Gly156Asp)
|
rs750270446
|
0.00001
|
NM_004577.4(PSPH):c.481G>A (p.Val161Met)
|
rs765086289
|
0.00001
|
NM_004577.4(PSPH):c.506T>C (p.Phe169Ser)
|
rs1253579440
|
0.00001
|
NM_004577.4(PSPH):c.575C>T (p.Ala192Val)
|
rs779259191
|
0.00001
|
NM_004577.4(PSPH):c.596A>T (p.Asn199Ile)
|
rs753682900
|
0.00001
|
NM_004577.4(PSPH):c.60T>C (p.Asp20=)
|
rs201376678
|
0.00001
|
NM_004577.4(PSPH):c.647T>G (p.Phe216Cys)
|
rs935820820
|
0.00001
|
NM_004698.4(PRPF3):c.1042C>T (p.Leu348=)
|
rs1489740997
|
0.00001
|
NM_004698.4(PRPF3):c.1317T>C (p.Tyr439=)
|
rs782312050
|
0.00001
|
NM_004698.4(PRPF3):c.1334A>G (p.Gln445Arg)
|
rs373571735
|
0.00001
|
NM_004698.4(PRPF3):c.508-13C>G
|
rs373033761
|
0.00001
|
NM_004698.4(PRPF3):c.786G>A (p.Gly262=)
|
rs782088671
|
0.00001
|
NM_004744.5(LRAT):c.*3509C>A
|
rs1243976906
|
0.00001
|
NM_004744.5(LRAT):c.*624T>C
|
rs1732952951
|
0.00001
|
NM_004744.5(LRAT):c.*671A>G
|
rs886059167
|
0.00001
|
NM_004744.5(LRAT):c.*826C>T
|
rs778612442
|
0.00001
|
NM_004744.5(LRAT):c.205C>T (p.Arg69Cys)
|
rs775838916
|
0.00001
|
NM_004744.5(LRAT):c.244A>G (p.Thr82Ala)
|
rs747900628
|
0.00001
|
NM_004744.5(LRAT):c.519G>T (p.Pro173=)
|
rs375365480
|
0.00001
|
NM_004813.4(PEX16):c.710T>G (p.Leu237Arg)
|
rs753577538
|
0.00001
|
NM_004937.2(CTNS):c.-429T>C
|
rs886052860
|
0.00001
|
NM_004937.3(CTNS):c.*1250G>A
|
rs960133187
|
0.00001
|
NM_004937.3(CTNS):c.*1472G>A
|
rs563539494
|
0.00001
|
NM_004937.3(CTNS):c.*1501T>C
|
rs886052879
|
0.00001
|
NM_004937.3(CTNS):c.*2139T>C
|
rs1180495360
|
0.00001
|
NM_004937.3(CTNS):c.*599T>C
|
rs1389727221
|
0.00001
|
NM_004937.3(CTNS):c.-24C>T
|
rs886052866
|
0.00001
|
NM_004937.3(CTNS):c.-8C>T
|
rs372701935
|
0.00001
|
NM_004937.3(CTNS):c.1008T>G (p.Phe336Leu)
|
rs762561354
|
0.00001
|
NM_004937.3(CTNS):c.1071C>T (p.Tyr357=)
|
rs1210146657
|
0.00001
|
NM_004937.3(CTNS):c.140+3A>G
|
rs778641729
|
0.00001
|
NM_004937.3(CTNS):c.140G>A (p.Arg47Gln)
|
rs745744798
|
0.00001
|
NM_004937.3(CTNS):c.355C>T (p.Arg119Cys)
|
rs771990787
|
0.00001
|
NM_004937.3(CTNS):c.363C>T (p.Ser121=)
|
rs746463725
|
0.00001
|
NM_004937.3(CTNS):c.367A>G (p.Ile123Val)
|
rs776104111
|
0.00001
|
NM_004937.3(CTNS):c.386T>A (p.Val129Glu)
|
rs1009882965
|
0.00001
|
NM_004937.3(CTNS):c.442A>T (p.Met148Leu)
|
rs779895948
|
0.00001
|
NM_004937.3(CTNS):c.454C>T (p.Arg152Trp)
|
rs754433265
|
0.00001
|
NM_004937.3(CTNS):c.535G>A (p.Gly179Ser)
|
rs752632797
|
0.00001
|
NM_004937.3(CTNS):c.5T>C (p.Ile2Thr)
|
rs768188337
|
0.00001
|
NM_004937.3(CTNS):c.634G>A (p.Ala212Thr)
|
rs768600603
|
0.00001
|
NM_004937.3(CTNS):c.682C>T (p.Arg228Cys)
|
rs764538705
|
0.00001
|
NM_004937.3(CTNS):c.823G>A (p.Ala275Thr)
|
rs752869556
|
0.00001
|
NM_004937.3(CTNS):c.82G>C (p.Val28Leu)
|
rs759921102
|
0.00001
|
NM_004937.3(CTNS):c.886G>A (p.Gly296Ser)
|
rs755702977
|
0.00001
|
NM_004974.4(KCNA2):c.1108G>A (p.Val370Ile)
|
rs756214647
|
0.00001
|
NM_004974.4(KCNA2):c.1154T>C (p.Ile385Thr)
|
rs1197586006
|
0.00001
|
NM_004974.4(KCNA2):c.1256G>A (p.Arg419Gln)
|
rs1296710118
|
0.00001
|
NM_004974.4(KCNA2):c.1466A>G (p.Tyr489Cys)
|
rs149776127
|
0.00001
|
NM_004974.4(KCNA2):c.194G>A (p.Arg65Gln)
|
rs1649516324
|
0.00001
|
NM_004974.4(KCNA2):c.23C>T (p.Pro8Leu)
|
rs1487522107
|
0.00001
|
NM_004974.4(KCNA2):c.290G>A (p.Arg97Gln)
|
rs1194485302
|
0.00001
|
NM_004974.4(KCNA2):c.397A>G (p.Ile133Val)
|
rs759722211
|
0.00001
|
NM_004974.4(KCNA2):c.511A>G (p.Met171Val)
|
rs773468235
|
0.00001
|
NM_004974.4(KCNA2):c.532G>A (p.Val178Ile)
|
rs762594923
|
0.00001
|
NM_004974.4(KCNA2):c.565C>T (p.Arg189Trp)
|
rs770611476
|
0.00001
|
NM_004974.4(KCNA2):c.601A>T (p.Thr201Ser)
|
rs1016641998
|
0.00001
|
NM_004974.4(KCNA2):c.862A>G (p.Met288Val)
|
rs1486839913
|
0.00001
|
NM_004975.4(KCNB1):c.1355A>G (p.Asp452Gly)
|
rs760931963
|
0.00001
|
NM_004975.4(KCNB1):c.1529G>A (p.Gly510Glu)
|
rs767889610
|
0.00001
|
NM_004975.4(KCNB1):c.1606A>T (p.Met536Leu)
|
rs1984227856
|
0.00001
|
NM_004975.4(KCNB1):c.1693A>G (p.Ile565Val)
|
rs761452916
|
0.00001
|
NM_004975.4(KCNB1):c.1727C>A (p.Thr576Lys)
|
rs1355278265
|
0.00001
|
NM_004975.4(KCNB1):c.1778G>C (p.Ser593Thr)
|
rs1415361663
|
0.00001
|
NM_004975.4(KCNB1):c.1936G>A (p.Ala646Thr)
|
rs1447311755
|
0.00001
|
NM_004975.4(KCNB1):c.1937C>A (p.Ala646Asp)
|
rs1247080453
|
0.00001
|
NM_004975.4(KCNB1):c.1960A>T (p.Ile654Phe)
|
rs1276898684
|
0.00001
|
NM_004975.4(KCNB1):c.1963G>A (p.Glu655Lys)
|
rs769948178
|
0.00001
|
NM_004975.4(KCNB1):c.2200C>T (p.Pro734Ser)
|
rs1214997887
|
0.00001
|
NM_004975.4(KCNB1):c.2203C>G (p.Pro735Ala)
|
rs267605983
|
0.00001
|
NM_004975.4(KCNB1):c.2323C>G (p.Pro775Ala)
|
rs142461221
|
0.00001
|
NM_004975.4(KCNB1):c.2410A>G (p.Thr804Ala)
|
rs1262864745
|
0.00001
|
NM_004975.4(KCNB1):c.2411C>T (p.Thr804Ile)
|
rs1049874069
|
0.00001
|
NM_004975.4(KCNB1):c.29C>T (p.Ser10Phe)
|
rs902335211
|
0.00001
|
NM_004975.4(KCNB1):c.703G>A (p.Val235Met)
|
rs1315753296
|
0.00001
|
NM_004975.4(KCNB1):c.856G>A (p.Val286Met)
|
rs1194019938
|
0.00001
|
NM_005050.4(ABCD4):c.1019A>G (p.Tyr340Cys)
|
rs1446995315
|
0.00001
|
NM_005050.4(ABCD4):c.1093G>T (p.Gly365Cys)
|
rs201100662
|
0.00001
|
NM_005050.4(ABCD4):c.1095C>T (p.Gly365=)
|
rs546298874
|
0.00001
|
NM_005050.4(ABCD4):c.1337A>G (p.Gln446Arg)
|
rs759539743
|
0.00001
|
NM_005050.4(ABCD4):c.1402G>A (p.Gly468Arg)
|
rs1360319567
|
0.00001
|
NM_005050.4(ABCD4):c.1578G>A (p.Pro526=)
|
rs555792734
|
0.00001
|
NM_005050.4(ABCD4):c.1609C>A (p.Leu537Ile)
|
rs780846855
|
0.00001
|
NM_005050.4(ABCD4):c.166G>A (p.Val56Met)
|
rs2083804334
|
0.00001
|
NM_005050.4(ABCD4):c.1752+2T>C
|
rs151116417
|
0.00001
|
NM_005050.4(ABCD4):c.1753-18G>A
|
rs772567988
|
0.00001
|
NM_005050.4(ABCD4):c.1794G>C (p.Trp598Cys)
|
rs773609274
|
0.00001
|
NM_005050.4(ABCD4):c.352C>T (p.His118Tyr)
|
rs371774856
|
0.00001
|
NM_005050.4(ABCD4):c.388T>C (p.Tyr130His)
|
rs1349388678
|
0.00001
|
NM_005050.4(ABCD4):c.463C>T (p.Arg155Trp)
|
rs373322009
|
0.00001
|
NM_005050.4(ABCD4):c.556G>A (p.Gly186Arg)
|
rs1410990711
|
0.00001
|
NM_005050.4(ABCD4):c.644A>G (p.Gln215Arg)
|
rs1280841182
|
0.00001
|
NM_005050.4(ABCD4):c.727C>T (p.His243Tyr)
|
rs761053363
|
0.00001
|
NM_005148.4(UNC119):c.419T>G (p.Leu140Arg)
|
rs199705690
|
0.00001
|
NM_005148.4(UNC119):c.47C>T (p.Ser16Phe)
|
rs756038571
|
0.00001
|
NM_005271.5(GLUD1):c.*1181C>A
|
rs542298445
|
0.00001
|
NM_005271.5(GLUD1):c.*1436G>A
|
rs886047369
|
0.00001
|
NM_005271.5(GLUD1):c.*469C>A
|
rs566474794
|
0.00001
|
NM_005271.5(GLUD1):c.*496G>A
|
rs886047372
|
0.00001
|
NM_005271.5(GLUD1):c.1181C>T (p.Pro394Leu)
|
rs777564388
|
0.00001
|
NM_005271.5(GLUD1):c.136G>A (p.Ala46Thr)
|
rs780956934
|
0.00001
|
NM_005271.5(GLUD1):c.1515C>T (p.Ile505=)
|
rs774771496
|
0.00001
|
NM_005271.5(GLUD1):c.646+3A>G
|
rs1846331910
|
0.00001
|
NM_005327.4(HADH):c.-86G>T
|
rs528952923
|
0.00001
|
NM_005327.7(HADH):c.*279C>A
|
rs1290272212
|
0.00001
|
NM_005327.7(HADH):c.-36C>T
|
rs746854470
|
0.00001
|
NM_005327.7(HADH):c.126T>G (p.Ile42Met)
|
rs1264862903
|
0.00001
|
NM_005327.7(HADH):c.159A>G (p.Val53=)
|
rs148846625
|
0.00001
|
NM_005327.7(HADH):c.266G>A (p.Gly89Asp)
|
rs1292646768
|
0.00001
|
NM_005327.7(HADH):c.280G>C (p.Glu94Gln)
|
rs1274785101
|
0.00001
|
NM_005327.7(HADH):c.283A>G (p.Lys95Glu)
|
rs536173298
|
0.00001
|
NM_005327.7(HADH):c.449C>T (p.Ser150Phe)
|
rs1735809175
|
0.00001
|
NM_005327.7(HADH):c.494G>A (p.Arg165Gln)
|
rs768880930
|
0.00001
|
NM_005327.7(HADH):c.707G>A (p.Arg236Gln)
|
rs748945961
|
0.00001
|
NM_005327.7(HADH):c.72G>A (p.Lys24=)
|
rs781319494
|
0.00001
|
NM_005327.7(HADH):c.761A>G (p.Tyr254Cys)
|
rs771071992
|
0.00001
|
NM_005327.7(HADH):c.823G>A (p.Asp275Asn)
|
rs150766162
|
0.00001
|
NM_005334.3(HCFC1):c.1222A>G (p.Thr408Ala)
|
rs781937365
|
0.00001
|
NM_005334.3(HCFC1):c.2690C>T (p.Ala897Val)
|
rs781971515
|
0.00001
|
NM_005334.3(HCFC1):c.3385G>A (p.Ala1129Thr)
|
rs782235304
|
0.00001
|
NM_005334.3(HCFC1):c.3409C>T (p.Arg1137Trp)
|
rs1043389387
|
0.00001
|
NM_005334.3(HCFC1):c.3791G>C (p.Gly1264Ala)
|
rs1557113936
|
0.00001
|
NM_005334.3(HCFC1):c.4109C>T (p.Ser1370Leu)
|
rs1557113656
|
0.00001
|
NM_005334.3(HCFC1):c.4153A>G (p.Arg1385Gly)
|
rs781783048
|
0.00001
|
NM_005334.3(HCFC1):c.4242G>C (p.Gln1414His)
|
rs1004412459
|
0.00001
|
NM_005334.3(HCFC1):c.4334A>G (p.Asp1445Gly)
|
rs782122807
|
0.00001
|
NM_005334.3(HCFC1):c.4376C>T (p.Thr1459Ile)
|
rs935130398
|
0.00001
|
NM_005334.3(HCFC1):c.4789G>A (p.Ala1597Thr)
|
rs1557112927
|
0.00001
|
NM_005334.3(HCFC1):c.4790C>T (p.Ala1597Val)
|
rs372010656
|
0.00001
|
NM_005334.3(HCFC1):c.503+6G>A
|
rs1048267564
|
0.00001
|
NM_005334.3(HCFC1):c.5300T>G (p.Val1767Gly)
|
rs1360396448
|
0.00001
|
NM_005334.3(HCFC1):c.5420A>G (p.Lys1807Arg)
|
rs1557112412
|
0.00001
|
NM_005518.4(HMGCS2):c.-36T>G
|
rs768747562
|
0.00001
|
NM_005518.4(HMGCS2):c.1082A>G (p.Gln361Arg)
|
rs1286357569
|
0.00001
|
NM_005518.4(HMGCS2):c.111T>C (p.Ser37=)
|
rs200675569
|
0.00001
|
NM_005518.4(HMGCS2):c.1132A>C (p.Asn378His)
|
rs746227549
|
0.00001
|
NM_005518.4(HMGCS2):c.1175C>T (p.Ser392Leu)
|
rs766097440
|
0.00001
|
NM_005518.4(HMGCS2):c.1271G>A (p.Arg424Gln)
|
rs748252959
|
0.00001
|
NM_005518.4(HMGCS2):c.1405C>G (p.Gln469Glu)
|
rs754218759
|
0.00001
|
NM_005518.4(HMGCS2):c.1451G>T (p.Ser484Ile)
|
rs763005476
|
0.00001
|
NM_005518.4(HMGCS2):c.160G>A (p.Val54Met)
|
rs28937320
|
0.00001
|
NM_005518.4(HMGCS2):c.559+15G>A
|
rs888099231
|
0.00001
|
NM_005518.4(HMGCS2):c.743C>T (p.Ser248Leu)
|
rs768912442
|
0.00001
|
NM_005518.4(HMGCS2):c.88C>G (p.Pro30Ala)
|
rs202069145
|
0.00001
|
NM_005518.4(HMGCS2):c.95C>T (p.Ala32Val)
|
rs199651321
|
0.00001
|
NM_005530.3(IDH3A):c.937A>C (p.Met313Leu)
|
rs995215356
|
0.00001
|
NM_005589.4(ALDH6A1):c.*2774G>C
|
rs2060253320
|
0.00001
|
NM_005589.4(ALDH6A1):c.1221C>G (p.Val407=)
|
rs756896845
|
0.00001
|
NM_005589.4(ALDH6A1):c.1603C>T (p.Arg535Cys)
|
rs367863044
|
0.00001
|
NM_005589.4(ALDH6A1):c.235A>G (p.Met79Val)
|
rs771440193
|
0.00001
|
NM_005589.4(ALDH6A1):c.80G>A (p.Trp27Ter)
|
rs764104981
|
0.00001
|
NM_005589.4(ALDH6A1):c.827A>G (p.His276Arg)
|
rs779188591
|
0.00001
|
NM_005589.4(ALDH6A1):c.921G>A (p.Gly307=)
|
rs1402487087
|
0.00001
|
NM_005629.4(SLC6A8):c.1089G>A (p.Leu363=)
|
rs1557045154
|
0.00001
|
NM_005629.4(SLC6A8):c.1172G>A (p.Arg391Gln)
|
rs782676733
|
0.00001
|
NM_005629.4(SLC6A8):c.1196C>T (p.Ala399Val)
|
rs1557045287
|
0.00001
|
NM_005629.4(SLC6A8):c.127C>T (p.Pro43Ser)
|
rs1185738875
|
0.00001
|
NM_005629.4(SLC6A8):c.1302G>A (p.Pro434=)
|
rs1463546168
|
0.00001
|
NM_005629.4(SLC6A8):c.1310A>C (p.Tyr437Ser)
|
rs1557045400
|
0.00001
|
NM_005629.4(SLC6A8):c.1405G>A (p.Val469Ile)
|
rs1557045470
|
0.00001
|
NM_005629.4(SLC6A8):c.1511T>C (p.Met504Thr)
|
rs1557045552
|
0.00001
|
NM_005629.4(SLC6A8):c.1768C>T (p.Arg590Cys)
|
rs2314078
|
0.00001
|
NM_005629.4(SLC6A8):c.1888G>A (p.Val630Met)
|
rs373570632
|
0.00001
|
NM_005629.4(SLC6A8):c.463G>A (p.Gly155Ser)
|
rs782174461
|
0.00001
|
NM_005629.4(SLC6A8):c.54G>C (p.Lys18Asn)
|
rs1261794545
|
0.00001
|
NM_005629.4(SLC6A8):c.56A>C (p.Lys19Thr)
|
rs1238996324
|
0.00001
|
NM_005629.4(SLC6A8):c.620G>A (p.Arg207Gln)
|
rs1175883803
|
0.00001
|
NM_005629.4(SLC6A8):c.896A>C (p.Lys299Thr)
|
rs782767368
|
0.00001
|
NM_005629.4(SLC6A8):c.89C>T (p.Ala30Val)
|
rs782598816
|
0.00001
|
NM_005802.5(TOPORS):c.*24A>G
|
rs191337644
|
0.00001
|
NM_005802.5(TOPORS):c.1170A>T (p.Ser390=)
|
rs763061457
|
0.00001
|
NM_005802.5(TOPORS):c.1426G>C (p.Asp476His)
|
rs886063854
|
0.00001
|
NM_005802.5(TOPORS):c.1788A>C (p.Arg596Ser)
|
rs886063853
|
0.00001
|
NM_005802.5(TOPORS):c.1793G>C (p.Arg598Thr)
|
rs749210641
|
0.00001
|
NM_005802.5(TOPORS):c.2010A>C (p.Ser670=)
|
rs762871906
|
0.00001
|
NM_005802.5(TOPORS):c.2024G>A (p.Ser675Asn)
|
rs111359713
|
0.00001
|
NM_005802.5(TOPORS):c.2967A>G (p.Ala989=)
|
rs761500932
|
0.00001
|
NM_005802.5(TOPORS):c.568G>A (p.Ala190Thr)
|
rs1305316061
|
0.00001
|
NM_005802.5(TOPORS):c.829C>T (p.Arg277Cys)
|
rs770446904
|
0.00001
|
NM_005881.4(BCKDK):c.10G>C (p.Ala4Pro)
|
rs775430762
|
0.00001
|
NM_005881.4(BCKDK):c.1196G>A (p.Arg399Gln)
|
rs766922526
|
0.00001
|
NM_005881.4(BCKDK):c.305T>C (p.Ile102Thr)
|
rs556255123
|
0.00001
|
NM_005881.4(BCKDK):c.529C>T (p.Arg177Trp)
|
rs774302251
|
0.00001
|
NM_005881.4(BCKDK):c.563A>G (p.Tyr188Cys)
|
rs761322791
|
0.00001
|
NM_005881.4(BCKDK):c.847G>A (p.Ala283Thr)
|
rs760851100
|
0.00001
|
NM_005881.4(BCKDK):c.86C>T (p.Ala29Val)
|
rs762482788
|
0.00001
|
NM_005881.4(BCKDK):c.904A>G (p.Ile302Val)
|
rs201164597
|
0.00001
|
NM_005881.4(BCKDK):c.917A>G (p.Asp306Gly)
|
rs200253972
|
0.00001
|
NM_005957.5(MTHFR):c.1002G>A (p.Lys334=)
|
rs147727428
|
0.00001
|
NM_005957.5(MTHFR):c.1014G>A (p.Met338Ile)
|
rs766683363
|
0.00001
|
NM_005957.5(MTHFR):c.1027C>T (p.Pro343Ser)
|
rs762663885
|
0.00001
|
NM_005957.5(MTHFR):c.1034G>A (p.Arg345His)
|
rs753278299
|
0.00001
|
NM_005957.5(MTHFR):c.1088G>A (p.Arg363His)
|
rs786204023
|
0.00001
|
NM_005957.5(MTHFR):c.1263G>C (p.Trp421Cys)
|
rs200688214
|
0.00001
|
NM_005957.5(MTHFR):c.1517A>G (p.Tyr506Cys)
|
rs764650203
|
0.00001
|
NM_005957.5(MTHFR):c.1622T>C (p.Val541Ala)
|
rs779726227
|
0.00001
|
NM_005957.5(MTHFR):c.1667C>T (p.Pro556Leu)
|
rs747712448
|
0.00001
|
NM_005957.5(MTHFR):c.177G>T (p.Trp59Cys)
|
rs767789270
|
0.00001
|
NM_005957.5(MTHFR):c.1970G>C (p.Ter657Ser)
|
rs749490263
|
0.00001
|
NM_005957.5(MTHFR):c.248T>C (p.Met83Thr)
|
rs1426036757
|
0.00001
|
NM_005957.5(MTHFR):c.382A>G (p.Met128Val)
|
rs202095816
|
0.00001
|
NM_005957.5(MTHFR):c.416C>T (p.Thr139Met)
|
rs1057519360
|
0.00001
|
NM_005957.5(MTHFR):c.469C>T (p.Arg157Trp)
|
rs776195746
|
0.00001
|
NM_005957.5(MTHFR):c.680C>T (p.Thr227Met)
|
rs748571395
|
0.00001
|
NM_005957.5(MTHFR):c.767T>A (p.Ile256Asn)
|
rs373398993
|
0.00001
|
NM_005957.5(MTHFR):c.773C>G (p.Pro258Arg)
|
rs1553186124
|
0.00001
|
NM_005957.5(MTHFR):c.797G>A (p.Arg266Gln)
|
rs571238208
|
0.00001
|
NM_005957.5(MTHFR):c.973C>T (p.Arg325Cys)
|
rs371085894
|
0.00001
|
NM_006017.3(PROM1):c.*198T>C
|
rs1713762475
|
0.00001
|
NM_006017.3(PROM1):c.*681C>G
|
rs947805890
|
0.00001
|
NM_006017.3(PROM1):c.*781G>A
|
rs1713636052
|
0.00001
|
NM_006017.3(PROM1):c.*963A>G
|
rs886059196
|
0.00001
|
NM_006017.3(PROM1):c.*985C>G
|
rs937617123
|
0.00001
|
NM_006017.3(PROM1):c.-148G>A
|
rs75531222
|
0.00001
|
NM_006017.3(PROM1):c.1002+5G>A
|
rs1196489060
|
0.00001
|
NM_006017.3(PROM1):c.1387T>C (p.Tyr463His)
|
rs1297490531
|
0.00001
|
NM_006017.3(PROM1):c.1578+9G>C
|
rs747638667
|
0.00001
|
NM_006017.3(PROM1):c.1710C>T (p.Tyr570=)
|
rs201644238
|
0.00001
|
NM_006017.3(PROM1):c.1717C>T (p.Leu573Phe)
|
rs886059201
|
0.00001
|
NM_006017.3(PROM1):c.1738A>C (p.Asn580His)
|
rs199674847
|
0.00001
|
NM_006017.3(PROM1):c.2110C>T (p.Arg704Cys)
|
rs1302809734
|
0.00001
|
NM_006017.3(PROM1):c.2309C>A (p.Pro770His)
|
rs568361529
|
0.00001
|
NM_006017.3(PROM1):c.2327A>T (p.Asp776Val)
|
rs1033920857
|
0.00001
|
NM_006017.3(PROM1):c.2397A>G (p.Gly799=)
|
rs931618095
|
0.00001
|
NM_006017.3(PROM1):c.2551G>A (p.Val851Ile)
|
rs201910962
|
0.00001
|
NM_006017.3(PROM1):c.677C>T (p.Ala226Val)
|
rs376198840
|
0.00001
|
NM_006017.3(PROM1):c.706G>A (p.Val236Met)
|
rs536161084
|
0.00001
|
NM_006269.2(RP1):c.*75C>T
|
rs1439625423
|
0.00001
|
NM_006269.2(RP1):c.-101G>A
|
rs867287513
|
0.00001
|
NM_006269.2(RP1):c.1661G>A (p.Ser554Asn)
|
rs1252073669
|
0.00001
|
NM_006269.2(RP1):c.314T>C (p.Leu105Pro)
|
rs760751066
|
0.00001
|
NM_006269.2(RP1):c.3340G>C (p.Gly1114Arg)
|
rs1245809381
|
0.00001
|
NM_006269.2(RP1):c.3456G>A (p.Lys1152=)
|
rs886062992
|
0.00001
|
NM_006269.2(RP1):c.3968A>G (p.Tyr1323Cys)
|
rs754606635
|
0.00001
|
NM_006269.2(RP1):c.4393T>C (p.Leu1465=)
|
rs769786870
|
0.00001
|
NM_006269.2(RP1):c.4536G>C (p.Lys1512Asn)
|
rs752606944
|
0.00001
|
NM_006269.2(RP1):c.4742A>T (p.Lys1581Ile)
|
rs766323335
|
0.00001
|
NM_006269.2(RP1):c.74G>A (p.Arg25His)
|
rs886062989
|
0.00001
|
NM_006343.3(MERTK):c.*112G>A
|
rs750580480
|
0.00001
|
NM_006343.3(MERTK):c.1450G>A (p.Gly484Ser)
|
rs527236084
|
0.00001
|
NM_006343.3(MERTK):c.1620G>A (p.Glu540=)
|
rs1381595159
|
0.00001
|
NM_006343.3(MERTK):c.1669C>T (p.Arg557Trp)
|
rs867486301
|
0.00001
|
NM_006343.3(MERTK):c.1783dup (p.Glu595fs)
|
rs1337364058
|
0.00001
|
NM_006343.3(MERTK):c.2202C>T (p.Asp734=)
|
rs1323896467
|
0.00001
|
NM_006343.3(MERTK):c.2273G>A (p.Arg758His)
|
rs370526555
|
0.00001
|
NM_006343.3(MERTK):c.2551A>C (p.Arg851=)
|
rs769304424
|
0.00001
|
NM_006343.3(MERTK):c.518A>G (p.Tyr173Cys)
|
rs771533393
|
0.00001
|
NM_006343.3(MERTK):c.583+8C>T
|
rs762862240
|
0.00001
|
NM_006343.3(MERTK):c.996C>G (p.Val332=)
|
rs886054757
|
0.00001
|
NM_006445.4(PRPF8):c.*72C>A
|
rs758889910
|
0.00001
|
NM_006445.4(PRPF8):c.-30T>C
|
rs886052620
|
0.00001
|
NM_006445.4(PRPF8):c.-62G>T
|
rs886052622
|
0.00001
|
NM_006445.4(PRPF8):c.-74C>T
|
rs886052623
|
0.00001
|
NM_006445.4(PRPF8):c.1263C>T (p.Ala421=)
|
rs886052615
|
0.00001
|
NM_006445.4(PRPF8):c.1401A>G (p.Gln467=)
|
rs751438136
|
0.00001
|
NM_006445.4(PRPF8):c.1719+4A>G
|
rs774567975
|
0.00001
|
NM_006445.4(PRPF8):c.3305C>A (p.Thr1102Lys)
|
rs776540872
|
0.00001
|
NM_006445.4(PRPF8):c.360C>T (p.Tyr120=)
|
rs764798990
|
0.00001
|
NM_006445.4(PRPF8):c.3699C>T (p.Asp1233=)
|
rs753683243
|
0.00001
|
NM_006445.4(PRPF8):c.6120G>A (p.Thr2040=)
|
rs761118301
|
0.00001
|
NM_006445.4(PRPF8):c.6584C>G (p.Thr2195Ser)
|
rs377037603
|
0.00001
|
NM_006445.4(PRPF8):c.6801C>T (p.Phe2267=)
|
rs755962697
|
0.00001
|
NM_006445.4(PRPF8):c.6967G>T (p.Gly2323Trp)
|
rs1910997588
|
0.00001
|
NM_006623.4(PHGDH):c.1132C>T (p.Leu378Phe)
|
rs1047310984
|
0.00001
|
NM_006623.4(PHGDH):c.1143G>C (p.Glu381Asp)
|
rs774132406
|
0.00001
|
NM_006623.4(PHGDH):c.1151A>G (p.Lys384Arg)
|
rs1299589464
|
0.00001
|
NM_006623.4(PHGDH):c.1193A>G (p.Lys398Arg)
|
rs765542839
|
0.00001
|
NM_006623.4(PHGDH):c.119A>G (p.Glu40Gly)
|
rs778630047
|
0.00001
|
NM_006623.4(PHGDH):c.1209+4C>T
|
rs199611972
|
0.00001
|
NM_006623.4(PHGDH):c.1273G>A (p.Val425Met)
|
rs121907988
|
0.00001
|
NM_006623.4(PHGDH):c.129G>A (p.Ala43=)
|
rs587623477
|
0.00001
|
NM_006623.4(PHGDH):c.1415C>T (p.Thr472Ile)
|
rs966613179
|
0.00001
|
NM_006623.4(PHGDH):c.1429A>G (p.Met477Val)
|
rs1249140637
|
0.00001
|
NM_006623.4(PHGDH):c.1450C>T (p.Leu484Phe)
|
rs200693896
|
0.00001
|
NM_006623.4(PHGDH):c.1534T>G (p.Ser512Ala)
|
rs375098288
|
0.00001
|
NM_006623.4(PHGDH):c.1595A>G (p.His532Arg)
|
rs959684288
|
0.00001
|
NM_006623.4(PHGDH):c.160C>T (p.Arg54Cys)
|
rs779687118
|
0.00001
|
NM_006623.4(PHGDH):c.202G>A (p.Glu68Lys)
|
rs774538219
|
0.00001
|
NM_006623.4(PHGDH):c.25G>C (p.Val9Leu)
|
rs199784256
|
0.00001
|
NM_006623.4(PHGDH):c.353C>T (p.Ala118Val)
|
rs780272429
|
0.00001
|
NM_006623.4(PHGDH):c.487C>T (p.Arg163Trp)
|
rs772067625
|
0.00001
|
NM_006623.4(PHGDH):c.496T>C (p.Ser166Pro)
|
rs149631480
|
0.00001
|
NM_006623.4(PHGDH):c.526C>G (p.Pro176Ala)
|
rs1031257536
|
0.00001
|
NM_006623.4(PHGDH):c.548C>T (p.Ser183Leu)
|
rs376632509
|
0.00001
|
NM_006623.4(PHGDH):c.550G>A (p.Ala184Thr)
|
rs956791237
|
0.00001
|
NM_006623.4(PHGDH):c.566A>C (p.Gln189Pro)
|
rs750124525
|
0.00001
|
NM_006623.4(PHGDH):c.634T>G (p.Ser212Ala)
|
rs374083753
|
0.00001
|
NM_006623.4(PHGDH):c.707G>A (p.Arg236His)
|
rs776544484
|
0.00001
|
NM_006623.4(PHGDH):c.758A>G (p.Gln253Arg)
|
rs1026407182
|
0.00001
|
NM_006623.4(PHGDH):c.787A>G (p.Thr263Ala)
|
rs1651889178
|
0.00001
|
NM_006623.4(PHGDH):c.822C>A (p.Asp274Glu)
|
rs370045696
|
0.00001
|
NM_006623.4(PHGDH):c.827A>C (p.Glu276Ala)
|
rs1651975372
|
0.00001
|
NM_006623.4(PHGDH):c.880C>T (p.Arg294Cys)
|
rs1390624793
|
0.00001
|
NM_006623.4(PHGDH):c.925G>A (p.Gly309Arg)
|
rs1445772566
|
0.00001
|
NM_006721.4(ADK):c.*114T>C
|
rs560409958
|
0.00001
|
NM_006721.4(ADK):c.*729T>G
|
rs1307744498
|
0.00001
|
NM_006721.4(ADK):c.220A>G (p.Lys74Glu)
|
rs201786575
|
0.00001
|
NM_006721.4(ADK):c.66-24009G>T
|
rs886047234
|
0.00001
|
NM_006721.4(ADK):c.71A>T (p.Asn24Ile)
|
rs1271395440
|
0.00001
|
NM_006721.4(ADK):c.763-9T>C
|
rs780824505
|
0.00001
|
NM_006859.4(LIAS):c.1012C>T (p.Leu338Phe)
|
rs771693497
|
0.00001
|
NM_006859.4(LIAS):c.1048C>T (p.Arg350Cys)
|
rs760106768
|
0.00001
|
NM_006859.4(LIAS):c.1049G>A (p.Arg350His)
|
rs779790258
|
0.00001
|
NM_006859.4(LIAS):c.10C>T (p.Arg4Cys)
|
rs1299862454
|
0.00001
|
NM_006859.4(LIAS):c.140A>G (p.Asp47Gly)
|
rs1184621128
|
0.00001
|
NM_006859.4(LIAS):c.14G>C (p.Cys5Ser)
|
rs1250162017
|
0.00001
|
NM_006859.4(LIAS):c.19G>A (p.Asp7Asn)
|
rs761633225
|
0.00001
|
NM_006859.4(LIAS):c.218G>C (p.Arg73Thr)
|
rs1172950083
|
0.00001
|
NM_006859.4(LIAS):c.23C>T (p.Ala8Val)
|
rs1467308371
|
0.00001
|
NM_006859.4(LIAS):c.25G>T (p.Ala9Ser)
|
rs999105881
|
0.00001
|
NM_006859.4(LIAS):c.266A>T (p.Asn89Ile)
|
rs1230898917
|
0.00001
|
NM_006859.4(LIAS):c.29G>A (p.Arg10His)
|
rs1370681479
|
0.00001
|
NM_006859.4(LIAS):c.329G>A (p.Arg110Gln)
|
rs773238728
|
0.00001
|
NM_006859.4(LIAS):c.348G>C (p.Glu116Asp)
|
rs753615027
|
0.00001
|
NM_006859.4(LIAS):c.354G>C (p.Trp118Cys)
|
rs754927642
|
0.00001
|
NM_006859.4(LIAS):c.361G>A (p.Gly121Arg)
|
rs778779575
|
0.00001
|
NM_006859.4(LIAS):c.37G>A (p.Gly13Arg)
|
rs1320749254
|
0.00001
|
NM_006859.4(LIAS):c.38G>A (p.Gly13Glu)
|
rs1187910864
|
0.00001
|
NM_006859.4(LIAS):c.425G>A (p.Arg142Lys)
|
rs760870251
|
0.00001
|
NM_006859.4(LIAS):c.446C>G (p.Ala149Gly)
|
rs977337132
|
0.00001
|
NM_006859.4(LIAS):c.44G>A (p.Arg15Gln)
|
rs184218786
|
0.00001
|
NM_006859.4(LIAS):c.488C>T (p.Thr163Ile)
|
rs1485721291
|
0.00001
|
NM_006859.4(LIAS):c.542A>T (p.Asp181Val)
|
rs1553934355
|
0.00001
|
NM_006859.4(LIAS):c.563G>C (p.Gly188Ala)
|
rs1210720598
|
0.00001
|
NM_006859.4(LIAS):c.589G>A (p.Val197Ile)
|
rs143321910
|
0.00001
|
NM_006859.4(LIAS):c.620T>G (p.Ile207Ser)
|
rs1196873747
|
0.00001
|
NM_006859.4(LIAS):c.645T>A (p.Asp215Glu)
|
rs869312808
|
0.00001
|
NM_006859.4(LIAS):c.650G>A (p.Arg217Gln)
|
rs570807277
|
0.00001
|
NM_006859.4(LIAS):c.66C>G (p.Cys22Trp)
|
rs529501318
|
0.00001
|
NM_006859.4(LIAS):c.706C>T (p.His236Tyr)
|
rs1426782379
|
0.00001
|
NM_006859.4(LIAS):c.746G>A (p.Arg249His)
|
rs144133667
|
0.00001
|
NM_006859.4(LIAS):c.754C>T (p.Arg252Trp)
|
rs775053206
|
0.00001
|
NM_006859.4(LIAS):c.769C>G (p.Gln257Glu)
|
rs1427248293
|
0.00001
|
NM_006859.4(LIAS):c.850G>A (p.Glu284Lys)
|
rs796052699
|
0.00001
|
NM_006859.4(LIAS):c.872C>T (p.Ala291Val)
|
rs769256159
|
0.00001
|
NM_006859.4(LIAS):c.883G>A (p.Ala295Thr)
|
rs774997711
|
0.00001
|
NM_006859.4(LIAS):c.884C>T (p.Ala295Val)
|
rs1028624548
|
0.00001
|
NM_006859.4(LIAS):c.89C>T (p.Ser30Phe)
|
rs796052701
|
0.00001
|
NM_006859.4(LIAS):c.905A>G (p.Asp302Gly)
|
rs1206469888
|
0.00001
|
NM_006859.4(LIAS):c.930G>A (p.Met310Ile)
|
rs796052700
|
0.00001
|
NM_006859.4(LIAS):c.954+2dup
|
rs1744972353
|
0.00001
|
NM_006859.4(LIAS):c.988T>C (p.Tyr330His)
|
rs1481336454
|
0.00001
|
NM_006899.5(IDH3B):c.*212A>G
|
rs886056567
|
0.00001
|
NM_006899.5(IDH3B):c.1145C>G (p.Thr382Ser)
|
rs764873315
|
0.00001
|
NM_006899.5(IDH3B):c.160C>G (p.Leu54Val)
|
rs767152068
|
0.00001
|
NM_006899.5(IDH3B):c.161T>C (p.Leu54Pro)
|
rs886056572
|
0.00001
|
NM_006899.5(IDH3B):c.338-10G>T
|
rs754403242
|
0.00001
|
NM_006899.5(IDH3B):c.66A>G (p.Ala22=)
|
rs886056573
|
0.00001
|
NM_006907.4(PYCR1):c.790C>T (p.Arg264Cys)
|
rs770539885
|
0.00001
|
NM_006915.3(RP2):c.*141T>A
|
rs1475574241
|
0.00001
|
NM_006915.3(RP2):c.11T>G (p.Phe4Cys)
|
rs782190396
|
0.00001
|
NM_006915.3(RP2):c.420C>T (p.Ser140=)
|
rs781830738
|
0.00001
|
NM_006915.3(RP2):c.496A>G (p.Ile166Val)
|
rs782510902
|
0.00001
|
NM_006915.3(RP2):c.514A>G (p.Ser172Gly)
|
rs782217142
|
0.00001
|
NM_006915.3(RP2):c.761T>C (p.Ile254Thr)
|
rs1556318773
|
0.00001
|
NM_006915.3(RP2):c.845G>A (p.Arg282Gln)
|
rs1556319897
|
0.00001
|
NM_012213.3(MLYCD):c.*304C>G
|
rs1212069217
|
0.00001
|
NM_012213.3(MLYCD):c.-11T>C
|
rs886052355
|
0.00001
|
NM_012213.3(MLYCD):c.1013T>C (p.Leu338Pro)
|
rs374073138
|
0.00001
|
NM_012213.3(MLYCD):c.1027A>T (p.Asn343Tyr)
|
rs1306974380
|
0.00001
|
NM_012213.3(MLYCD):c.1153G>A (p.Val385Met)
|
rs747617187
|
0.00001
|
NM_012213.3(MLYCD):c.1300A>G (p.Asn434Asp)
|
rs758793233
|
0.00001
|
NM_012213.3(MLYCD):c.1472G>T (p.Ser491Ile)
|
rs751002859
|
0.00001
|
NM_012213.3(MLYCD):c.355G>T (p.Ala119Ser)
|
rs779658559
|
0.00001
|
NM_012213.3(MLYCD):c.372G>T (p.Gln124His)
|
rs748979749
|
0.00001
|
NM_012213.3(MLYCD):c.463G>T (p.Val155Leu)
|
rs764848387
|
0.00001
|
NM_012213.3(MLYCD):c.482T>C (p.Leu161Pro)
|
rs780734812
|
0.00001
|
NM_012213.3(MLYCD):c.526C>T (p.Arg176Trp)
|
rs766257090
|
0.00001
|
NM_012213.3(MLYCD):c.553A>T (p.Met185Leu)
|
rs1212880594
|
0.00001
|
NM_012213.3(MLYCD):c.596G>A (p.Arg199Gln)
|
rs780910334
|
0.00001
|
NM_012213.3(MLYCD):c.613C>T (p.Pro205Ser)
|
rs759089126
|
0.00001
|
NM_012213.3(MLYCD):c.630G>C (p.Gln210His)
|
rs761614015
|
0.00001
|
NM_012213.3(MLYCD):c.691G>A (p.Val231Ile)
|
rs774892514
|
0.00001
|
NM_012213.3(MLYCD):c.8G>A (p.Gly3Asp)
|
rs121908081
|
0.00001
|
NM_012213.3(MLYCD):c.907C>A (p.Leu303Met)
|
rs766903457
|
0.00001
|
NM_012213.3(MLYCD):c.913A>G (p.Thr305Ala)
|
rs200745228
|
0.00001
|
NM_012213.3(MLYCD):c.997G>A (p.Gly333Ser)
|
rs746782812
|
0.00001
|
NM_012463.4(ATP6V0A2):c.*2039C>G
|
rs886049069
|
0.00001
|
NM_012463.4(ATP6V0A2):c.*3262G>A
|
rs1593929112
|
0.00001
|
NM_012463.4(ATP6V0A2):c.*3684C>T
|
rs1051636200
|
0.00001
|
NM_012463.4(ATP6V0A2):c.*3707A>G
|
rs1203316393
|
0.00001
|
NM_012463.4(ATP6V0A2):c.*434T>A
|
rs886049065
|
0.00001
|
NM_012463.4(ATP6V0A2):c.*706T>G
|
rs1288578795
|
0.00001
|
NM_012463.4(ATP6V0A2):c.-114G>A
|
rs1264181324
|
0.00001
|
NM_012463.4(ATP6V0A2):c.1323A>G (p.Gln441=)
|
rs985944979
|
0.00001
|
NM_012463.4(ATP6V0A2):c.1789A>G (p.Ile597Val)
|
rs757775762
|
0.00001
|
NM_012463.4(ATP6V0A2):c.2032C>T (p.Arg678Cys)
|
rs148307049
|
0.00001
|
NM_012463.4(ATP6V0A2):c.2116G>A (p.Asp706Asn)
|
rs777130500
|
0.00001
|
NM_012463.4(ATP6V0A2):c.2176-5C>G
|
rs201910056
|
0.00001
|
NM_012463.4(ATP6V0A2):c.2338C>T (p.Arg780Cys)
|
rs768609186
|
0.00001
|
NM_012463.4(ATP6V0A2):c.2542A>G (p.Lys848Glu)
|
rs769901746
|
0.00001
|
NM_012463.4(ATP6V0A2):c.2547C>A (p.Phe849Leu)
|
rs775425809
|
0.00001
|
NM_012463.4(ATP6V0A2):c.794G>A (p.Gly265Glu)
|
rs571403150
|
0.00001
|
NM_012469.4(PRPF6):c.-86C>T
|
rs886056958
|
0.00001
|
NM_012469.4(PRPF6):c.1103A>G (p.His368Arg)
|
rs886056960
|
0.00001
|
NM_012469.4(PRPF6):c.1582G>A (p.Ala528Thr)
|
rs2059240399
|
0.00001
|
NM_012469.4(PRPF6):c.2077G>T (p.Ala693Ser)
|
rs1464814132
|
0.00001
|
NM_012469.4(PRPF6):c.2107C>T (p.Arg703Trp)
|
rs754149863
|
0.00001
|
NM_012469.4(PRPF6):c.2752G>A (p.Asp918Asn)
|
rs765346207
|
0.00001
|
NM_012469.4(PRPF6):c.2756T>C (p.Ile919Thr)
|
rs773239629
|
0.00001
|
NM_012469.4(PRPF6):c.282C>T (p.Tyr94=)
|
rs758722968
|
0.00001
|
NM_012469.4(PRPF6):c.439-4C>T
|
rs371780214
|
0.00001
|
NM_014003.4(DHX38):c.2065G>T (p.Ala689Ser)
|
rs1408544161
|
0.00001
|
NM_014014.5(SNRNP200):c.*209T>C
|
rs886056456
|
0.00001
|
NM_014014.5(SNRNP200):c.-27G>A
|
rs886056469
|
0.00001
|
NM_014014.5(SNRNP200):c.1148G>A (p.Arg383His)
|
rs536493402
|
0.00001
|
NM_014014.5(SNRNP200):c.1996C>T (p.Arg666Cys)
|
rs200546584
|
0.00001
|
NM_014014.5(SNRNP200):c.2268A>G (p.Ser756=)
|
rs370694903
|
0.00001
|
NM_014014.5(SNRNP200):c.2542G>A (p.Asp848Asn)
|
rs757811344
|
0.00001
|
NM_014014.5(SNRNP200):c.2581T>C (p.Tyr861His)
|
rs1490753612
|
0.00001
|
NM_014014.5(SNRNP200):c.3269G>A (p.Arg1090Gln)
|
rs397514574
|
0.00001
|
NM_014014.5(SNRNP200):c.3744C>T (p.Asp1248=)
|
rs750593383
|
0.00001
|
NM_014014.5(SNRNP200):c.5336G>A (p.Arg1779His)
|
rs749546665
|
0.00001
|
NM_014014.5(SNRNP200):c.557A>G (p.Lys186Arg)
|
rs767984565
|
0.00001
|
NM_014014.5(SNRNP200):c.6025C>T (p.Arg2009Cys)
|
rs745836206
|
0.00001
|
NM_014014.5(SNRNP200):c.6092+3G>A
|
rs751502439
|
0.00001
|
NM_014014.5(SNRNP200):c.6291A>G (p.Pro2097=)
|
rs886056457
|
0.00001
|
NM_014014.5(SNRNP200):c.781C>A (p.Arg261=)
|
rs746654808
|
0.00001
|
NM_014049.5(ACAD9):c.1029+10G>C
|
rs377266080
|
0.00001
|
NM_014049.5(ACAD9):c.1062C>T (p.Tyr354=)
|
rs886057957
|
0.00001
|
NM_014049.5(ACAD9):c.1063G>A (p.Val355Ile)
|
rs1266273831
|
0.00001
|
NM_014049.5(ACAD9):c.1069G>A (p.Glu357Lys)
|
rs765411526
|
0.00001
|
NM_014049.5(ACAD9):c.1150-5C>T
|
rs1389811503
|
0.00001
|
NM_014049.5(ACAD9):c.1312C>G (p.Leu438Val)
|
rs749932833
|
0.00001
|
NM_014049.5(ACAD9):c.1398C>T (p.Thr466=)
|
rs772732061
|
0.00001
|
NM_014049.5(ACAD9):c.1474C>T (p.Pro492Ser)
|
rs886057958
|
0.00001
|
NM_014049.5(ACAD9):c.1496A>G (p.Asn499Ser)
|
rs369787602
|
0.00001
|
NM_014049.5(ACAD9):c.1646G>A (p.Arg549Gln)
|
rs750899715
|
0.00001
|
NM_014049.5(ACAD9):c.1705A>C (p.Asn569His)
|
rs769529395
|
0.00001
|
NM_014049.5(ACAD9):c.220G>A (p.Val74Met)
|
rs779258809
|
0.00001
|
NM_014049.5(ACAD9):c.284A>C (p.Asp95Ala)
|
rs761565265
|
0.00001
|
NM_014049.5(ACAD9):c.346+15del
|
rs886057956
|
0.00001
|
NM_014049.5(ACAD9):c.453+2T>A
|
rs1179305061
|
0.00001
|
NM_014049.5(ACAD9):c.509C>T (p.Ala170Val)
|
rs762521317
|
0.00001
|
NM_014049.5(ACAD9):c.906C>T (p.Ser302=)
|
rs551193020
|
0.00001
|
NM_014249.4(NR2E3):c.*101T>C
|
rs886051453
|
0.00001
|
NM_014249.4(NR2E3):c.*275A>C
|
rs886051455
|
0.00001
|
NM_014249.4(NR2E3):c.*489A>G
|
rs969891330
|
0.00001
|
NM_014249.4(NR2E3):c.-10C>T
|
rs771015928
|
0.00001
|
NM_014249.4(NR2E3):c.1101-10T>C
|
rs763647845
|
0.00001
|
NM_014249.4(NR2E3):c.119-6C>T
|
rs745910334
|
0.00001
|
NM_014249.4(NR2E3):c.143G>A (p.Arg48His)
|
rs372156526
|
0.00001
|
NM_014249.4(NR2E3):c.164G>A (p.Ser55Asn)
|
rs1420894727
|
0.00001
|
NM_014249.4(NR2E3):c.332C>T (p.Ala111Val)
|
rs759381786
|
0.00001
|
NM_014249.4(NR2E3):c.349+15G>A
|
rs1157654626
|
0.00001
|
NM_014249.4(NR2E3):c.352G>C (p.Val118Leu)
|
rs776270511
|
0.00001
|
NM_014249.4(NR2E3):c.454C>T (p.Pro152Ser)
|
rs1261697277
|
0.00001
|
NM_014249.4(NR2E3):c.571G>A (p.Ala191Thr)
|
rs779518180
|
0.00001
|
NM_014249.4(NR2E3):c.67G>C (p.Ala23Pro)
|
rs771928643
|
0.00001
|
NM_014251.2(SLC25A13):c.-203C>A
|
rs547594289
|
0.00001
|
NM_014251.3(SLC25A13):c.*517A>G
|
rs886062523
|
0.00001
|
NM_014251.3(SLC25A13):c.*72G>A
|
rs755310327
|
0.00001
|
NM_014251.3(SLC25A13):c.1019-6T>C
|
rs1207471194
|
0.00001
|
NM_014251.3(SLC25A13):c.1064G>A (p.Arg355Gln)
|
rs398122839
|
0.00001
|
NM_014251.3(SLC25A13):c.1147C>T (p.Arg383Cys)
|
rs983514448
|
0.00001
|
NM_014251.3(SLC25A13):c.1438T>C (p.Phe480Leu)
|
rs759905821
|
0.00001
|
NM_014251.3(SLC25A13):c.15+5C>T
|
rs907269562
|
0.00001
|
NM_014251.3(SLC25A13):c.1547G>A (p.Gly516Glu)
|
rs763244253
|
0.00001
|
NM_014251.3(SLC25A13):c.1637C>G (p.Thr546Arg)
|
rs548769905
|
0.00001
|
NM_014251.3(SLC25A13):c.1660G>A (p.Ala554Thr)
|
rs774907889
|
0.00001
|
NM_014251.3(SLC25A13):c.173T>C (p.Val58Ala)
|
rs1397231627
|
0.00001
|
NM_014251.3(SLC25A13):c.1823A>G (p.Tyr608Cys)
|
rs754713031
|
0.00001
|
NM_014251.3(SLC25A13):c.185G>A (p.Ser62Asn)
|
rs577901657
|
0.00001
|
NM_014251.3(SLC25A13):c.1958A>G (p.Lys653Arg)
|
rs879255501
|
0.00001
|
NM_014251.3(SLC25A13):c.318A>G (p.Glu106=)
|
rs772488794
|
0.00001
|
NM_014251.3(SLC25A13):c.666A>C (p.Gly222=)
|
rs200838637
|
0.00001
|
NM_014251.3(SLC25A13):c.710A>G (p.Tyr237Cys)
|
rs748764269
|
0.00001
|
NM_014251.3(SLC25A13):c.73G>A (p.Ala25Thr)
|
rs759288496
|
0.00001
|
NM_014251.3(SLC25A13):c.809A>G (p.Asp270Gly)
|
rs751343245
|
0.00001
|
NM_014251.3(SLC25A13):c.874C>T (p.Arg292Trp)
|
rs142308242
|
0.00001
|
NM_014251.3(SLC25A13):c.90C>T (p.Asn30=)
|
rs777148254
|
0.00001
|
NM_014251.3(SLC25A13):c.916G>A (p.Ala306Thr)
|
rs1365501165
|
0.00001
|
NM_014251.3(SLC25A13):c.922G>A (p.Ala308Thr)
|
rs922613966
|
0.00001
|
NM_014252.3(SLC25A15):c.-167G>A
|
rs886050238
|
0.00001
|
NM_014252.4(SLC25A15):c.*1026G>A
|
rs1399636214
|
0.00001
|
NM_014252.4(SLC25A15):c.*1203G>A
|
rs1396590702
|
0.00001
|
NM_014252.4(SLC25A15):c.*1319G>C
|
rs886050242
|
0.00001
|
NM_014252.4(SLC25A15):c.*1682C>T
|
rs557871939
|
0.00001
|
NM_014252.4(SLC25A15):c.*1754A>G
|
rs1882445253
|
0.00001
|
NM_014252.4(SLC25A15):c.*2332T>C
|
rs551340341
|
0.00001
|
NM_014252.4(SLC25A15):c.*2494G>A
|
rs886050250
|
0.00001
|
NM_014252.4(SLC25A15):c.*2498A>G
|
rs1427156330
|
0.00001
|
NM_014252.4(SLC25A15):c.*333A>T
|
rs1282966714
|
0.00001
|
NM_014252.4(SLC25A15):c.134G>A (p.Arg45Gln)
|
rs201647638
|
0.00001
|
NM_014252.4(SLC25A15):c.175G>A (p.Gly59Ser)
|
rs1206371362
|
0.00001
|
NM_014252.4(SLC25A15):c.225C>T (p.Ile75=)
|
rs765380976
|
0.00001
|
NM_014252.4(SLC25A15):c.292T>A (p.Leu98Met)
|
rs752943501
|
0.00001
|
NM_014252.4(SLC25A15):c.346G>A (p.Ala116Thr)
|
rs770726226
|
0.00001
|
NM_014252.4(SLC25A15):c.64G>A (p.Ala22Thr)
|
rs772586133
|
0.00001
|
NM_014252.4(SLC25A15):c.688G>A (p.Val230Met)
|
rs1185937987
|
0.00001
|
NM_014252.4(SLC25A15):c.701A>T (p.Lys234Ile)
|
rs780409673
|
0.00001
|
NM_014252.4(SLC25A15):c.781+9A>G
|
rs1353571695
|
0.00001
|
NM_014252.4(SLC25A15):c.850T>C (p.Phe284Leu)
|
rs1376001064
|
0.00001
|
NM_014270.5(SLC7A9):c.*20C>T
|
rs773144504
|
0.00001
|
NM_014270.5(SLC7A9):c.-133C>A
|
rs1019636549
|
0.00001
|
NM_014270.5(SLC7A9):c.1225-8G>A
|
rs374629909
|
0.00001
|
NM_014270.5(SLC7A9):c.177G>A (p.Thr59=)
|
rs771205937
|
0.00001
|
NM_014270.5(SLC7A9):c.302T>A (p.Met101Lys)
|
rs771811712
|
0.00001
|
NM_014270.5(SLC7A9):c.30A>G (p.Arg10=)
|
rs765983557
|
0.00001
|
NM_014270.5(SLC7A9):c.605-3C>A
|
rs749913021
|
0.00001
|
NM_014270.5(SLC7A9):c.639C>T (p.Gly213=)
|
rs763216072
|
0.00001
|
NM_014270.5(SLC7A9):c.922T>C (p.Phe308Leu)
|
rs770811201
|
0.00001
|
NM_014336.5(AIPL1):c.*1455G>T
|
rs886053257
|
0.00001
|
NM_014336.5(AIPL1):c.33G>C (p.Gly11=)
|
rs369223841
|
0.00001
|
NM_014336.5(AIPL1):c.359C>T (p.Thr120Met)
|
rs144579083
|
0.00001
|
NM_014336.5(AIPL1):c.389A>G (p.His130Arg)
|
rs750182458
|
0.00001
|
NM_014336.5(AIPL1):c.639C>T (p.Thr213=)
|
rs371485219
|
0.00001
|
NM_014336.5(AIPL1):c.785G>T (p.Gly262Val)
|
rs201428885
|
0.00001
|
NM_014336.5(AIPL1):c.828G>C (p.Glu276Asp)
|
rs772357501
|
0.00001
|
NM_014336.5(AIPL1):c.939G>A (p.Ala313=)
|
rs200401166
|
0.00001
|
NM_014362.4(HIBCH):c.1103C>T (p.Thr368Ile)
|
rs142607404
|
0.00001
|
NM_014362.4(HIBCH):c.145A>G (p.Ile49Val)
|
rs1370340054
|
0.00001
|
NM_014362.4(HIBCH):c.196C>T (p.Arg66Trp)
|
rs757976755
|
0.00001
|
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys)
|
rs121918329
|
0.00001
|
NM_014362.4(HIBCH):c.790C>T (p.His264Tyr)
|
rs1280144449
|
0.00001
|
NM_014384.3(ACAD8):c.*351C>G
|
rs561907589
|
0.00001
|
NM_014384.3(ACAD8):c.1092C>T (p.Ala364=)
|
rs146813391
|
0.00001
|
NM_014384.3(ACAD8):c.233T>C (p.Met78Thr)
|
rs767613745
|
0.00001
|
NM_014384.3(ACAD8):c.250C>G (p.Leu84Val)
|
rs1330918776
|
0.00001
|
NM_014384.3(ACAD8):c.292T>C (p.Ser98Pro)
|
rs773978651
|
0.00001
|
NM_014384.3(ACAD8):c.308T>G (p.Leu103Arg)
|
rs763906092
|
0.00001
|
NM_014384.3(ACAD8):c.326T>C (p.Phe109Ser)
|
rs1939586683
|
0.00001
|
NM_014384.3(ACAD8):c.337G>A (p.Ala113Thr)
|
rs751633406
|
0.00001
|
NM_014384.3(ACAD8):c.380+7G>A
|
rs1335335796
|
0.00001
|
NM_014384.3(ACAD8):c.494G>C (p.Ser165Thr)
|
rs988461205
|
0.00001
|
NM_014384.3(ACAD8):c.525C>T (p.Ser175=)
|
rs142343253
|
0.00001
|
NM_014384.3(ACAD8):c.527C>G (p.Ala176Gly)
|
rs1288285713
|
0.00001
|
NM_014384.3(ACAD8):c.538G>C (p.Gly180Arg)
|
rs367999938
|
0.00001
|
NM_014384.3(ACAD8):c.558T>C (p.Asn186=)
|
rs886048025
|
0.00001
|
NM_014384.3(ACAD8):c.611T>C (p.Met204Thr)
|
rs1939759468
|
0.00001
|
NM_014384.3(ACAD8):c.643A>G (p.Ile215Val)
|
rs151125742
|
0.00001
|
NM_014384.3(ACAD8):c.670A>G (p.Thr224Ala)
|
rs748422726
|
0.00001
|
NM_014384.3(ACAD8):c.806C>T (p.Ala269Val)
|
rs142790411
|
0.00001
|
NM_014384.3(ACAD8):c.842-15G>A
|
rs778257880
|
0.00001
|
NM_014384.3(ACAD8):c.85C>T (p.Arg29Trp)
|
rs1278727402
|
0.00001
|
NM_014384.3(ACAD8):c.948A>G (p.Gln316=)
|
rs148005336
|
0.00001
|
NM_014384.3(ACAD8):c.964A>G (p.Met322Val)
|
rs1167657404
|
0.00001
|
NM_014384.3(ACAD8):c.988C>T (p.Arg330Trp)
|
rs121908420
|
0.00001
|
NM_014384.3(ACAD8):c.99C>T (p.Ser33=)
|
rs886048021
|
0.00001
|
NM_014714.4(IFT140):c.1219C>T (p.Arg407Trp)
|
rs754373519
|
0.00001
|
NM_014714.4(IFT140):c.1301C>T (p.Thr434Met)
|
rs762293142
|
0.00001
|
NM_014714.4(IFT140):c.1322G>A (p.Arg441His)
|
rs776567773
|
0.00001
|
NM_014714.4(IFT140):c.1440C>G (p.Phe480Leu)
|
rs770727161
|
0.00001
|
NM_014714.4(IFT140):c.1480G>A (p.Val494Ile)
|
rs767571875
|
0.00001
|
NM_014714.4(IFT140):c.1559C>T (p.Thr520Ile)
|
rs1321089981
|
0.00001
|
NM_014714.4(IFT140):c.1778A>C (p.Asn593Thr)
|
rs775630184
|
0.00001
|
NM_014714.4(IFT140):c.1807G>A (p.Asp603Asn)
|
rs138674110
|
0.00001
|
NM_014714.4(IFT140):c.1869G>C (p.Glu623Asp)
|
rs2033705618
|
0.00001
|
NM_014714.4(IFT140):c.2053C>T (p.Arg685Cys)
|
rs778368172
|
0.00001
|
NM_014714.4(IFT140):c.2054G>A (p.Arg685His)
|
rs370263158
|
0.00001
|
NM_014714.4(IFT140):c.2318G>A (p.Arg773Gln)
|
rs140458893
|
0.00001
|
NM_014714.4(IFT140):c.2447G>A (p.Arg816Gln)
|
rs536061072
|
0.00001
|
NM_014714.4(IFT140):c.2455G>A (p.Val819Met)
|
rs766515079
|
0.00001
|
NM_014714.4(IFT140):c.2509C>T (p.Arg837Cys)
|
rs754073086
|
0.00001
|
NM_014714.4(IFT140):c.2545G>A (p.Val849Met)
|
rs771662799
|
0.00001
|
NM_014714.4(IFT140):c.257C>T (p.Thr86Met)
|
rs1159315989
|
0.00001
|
NM_014714.4(IFT140):c.2690G>A (p.Arg897His)
|
rs745863942
|
0.00001
|
NM_014714.4(IFT140):c.2718C>G (p.Arg906=)
|
rs780540683
|
0.00001
|
NM_014714.4(IFT140):c.2758G>T (p.Ala920Ser)
|
rs566450108
|
0.00001
|
NM_014714.4(IFT140):c.2908G>A (p.Glu970Lys)
|
rs143720412
|
0.00001
|
NM_014714.4(IFT140):c.2921C>T (p.Ala974Val)
|
rs745576178
|
0.00001
|
NM_014714.4(IFT140):c.2945G>A (p.Arg982Gln)
|
rs766316995
|
0.00001
|
NM_014714.4(IFT140):c.298C>G (p.Leu100Val)
|
rs546498421
|
0.00001
|
NM_014714.4(IFT140):c.3218A>G (p.Tyr1073Cys)
|
rs777230794
|
0.00001
|
NM_014714.4(IFT140):c.3301G>A (p.Ala1101Thr)
|
rs760652531
|
0.00001
|
NM_014714.4(IFT140):c.3470A>T (p.Gln1157Leu)
|
rs772423904
|
0.00001
|
NM_014714.4(IFT140):c.3563G>A (p.Arg1188Gln)
|
rs780533679
|
0.00001
|
NM_014714.4(IFT140):c.3581A>G (p.Gln1194Arg)
|
rs754978656
|
0.00001
|
NM_014714.4(IFT140):c.3633G>C (p.Lys1211Asn)
|
rs771772194
|
0.00001
|
NM_014714.4(IFT140):c.386T>G (p.Leu129Trp)
|
rs773768491
|
0.00001
|
NM_014714.4(IFT140):c.3913G>A (p.Gly1305Arg)
|
rs755596826
|
0.00001
|
NM_014714.4(IFT140):c.3958A>G (p.Lys1320Glu)
|
rs776809726
|
0.00001
|
NM_014714.4(IFT140):c.3989C>T (p.Ala1330Val)
|
rs376151586
|
0.00001
|
NM_014714.4(IFT140):c.4076A>G (p.Gln1359Arg)
|
rs907401737
|
0.00001
|
NM_014714.4(IFT140):c.4267G>A (p.Val1423Met)
|
rs756711276
|
0.00001
|
NM_014714.4(IFT140):c.4378G>A (p.Asp1460Asn)
|
rs777181948
|
0.00001
|
NM_014714.4(IFT140):c.489C>T (p.Gly163=)
|
rs776597097
|
0.00001
|
NM_014714.4(IFT140):c.634+5G>A
|
rs1323647622
|
0.00001
|
NM_014714.4(IFT140):c.685G>A (p.Ala229Thr)
|
rs555382397
|
0.00001
|
NM_014714.4(IFT140):c.7C>T (p.Leu3Phe)
|
rs1442341163
|
0.00001
|
NM_014714.4(IFT140):c.850G>A (p.Ala284Thr)
|
rs778404277
|
0.00001
|
NM_014748.4(SNX17):c.*572A>T
|
rs916987949
|
0.00001
|
NM_015506.3(MMACHC):c.14T>A (p.Val5Asp)
|
rs780981680
|
0.00001
|
NM_015506.3(MMACHC):c.222G>C (p.Met74Ile)
|
rs772225967
|
0.00001
|
NM_015506.3(MMACHC):c.230A>G (p.Asp77Gly)
|
rs1217366809
|
0.00001
|
NM_015506.3(MMACHC):c.334C>T (p.Arg112Cys)
|
rs187869948
|
0.00001
|
NM_015506.3(MMACHC):c.349G>C (p.Ala117Pro)
|
rs752205161
|
0.00001
|
NM_015506.3(MMACHC):c.38A>C (p.Glu13Ala)
|
rs1010232462
|
0.00001
|
NM_015506.3(MMACHC):c.403G>T (p.Val135Leu)
|
rs886046368
|
0.00001
|
NM_015506.3(MMACHC):c.406G>A (p.Glu136Lys)
|
rs374086070
|
0.00001
|
NM_015506.3(MMACHC):c.434T>C (p.Ile145Thr)
|
rs759921519
|
0.00001
|
NM_015506.3(MMACHC):c.446G>A (p.Cys149Tyr)
|
rs1161394470
|
0.00001
|
NM_015506.3(MMACHC):c.548T>C (p.Val183Ala)
|
rs780926592
|
0.00001
|
NM_015506.3(MMACHC):c.616C>T (p.Arg206Trp)
|
rs538023671
|
0.00001
|
NM_015506.3(MMACHC):c.687A>G (p.Gln229=)
|
rs369621922
|
0.00001
|
NM_015506.3(MMACHC):c.849A>G (p.Ter283Trp)
|
rs769732556
|
0.00001
|
NM_015509.4(NECAP1):c.195A>G (p.Ser65=)
|
rs770774824
|
0.00001
|
NM_015509.4(NECAP1):c.305G>A (p.Arg102His)
|
rs766363501
|
0.00001
|
NM_015509.4(NECAP1):c.331A>G (p.Thr111Ala)
|
rs754771825
|
0.00001
|
NM_015509.4(NECAP1):c.352G>A (p.Asp118Asn)
|
rs755866954
|
0.00001
|
NM_015509.4(NECAP1):c.376C>T (p.His126Tyr)
|
rs775899740
|
0.00001
|
NM_015509.4(NECAP1):c.430G>A (p.Asp144Asn)
|
rs1219581866
|
0.00001
|
NM_015509.4(NECAP1):c.487A>G (p.Ile163Val)
|
rs1477942819
|
0.00001
|
NM_015509.4(NECAP1):c.518C>T (p.Ala173Val)
|
rs770195923
|
0.00001
|
NM_015509.4(NECAP1):c.595C>T (p.Pro199Ser)
|
rs1340615210
|
0.00001
|
NM_015509.4(NECAP1):c.640C>T (p.Pro214Ser)
|
rs3203835
|
0.00001
|
NM_015509.4(NECAP1):c.653C>A (p.Ser218Tyr)
|
rs371472296
|
0.00001
|
NM_015509.4(NECAP1):c.713C>T (p.Thr238Met)
|
rs763248083
|
0.00001
|
NM_015509.4(NECAP1):c.727A>G (p.Thr243Ala)
|
rs752197558
|
0.00001
|
NM_015509.4(NECAP1):c.746A>G (p.Asn249Ser)
|
rs776221234
|
0.00001
|
NM_015509.4(NECAP1):c.758G>A (p.Gly253Glu)
|
rs765737930
|
0.00001
|
NM_015509.4(NECAP1):c.772G>A (p.Ala258Thr)
|
rs898607958
|
0.00001
|
NM_015509.4(NECAP1):c.77C>T (p.Ala26Val)
|
rs1258379215
|
0.00001
|
NM_015509.4(NECAP1):c.812A>G (p.Asn271Ser)
|
rs763046716
|
0.00001
|
NM_015509.4(NECAP1):c.83A>T (p.Asn28Ile)
|
rs1591593478
|
0.00001
|
NM_015509.4(NECAP1):c.88G>A (p.Gly30Ser)
|
rs147832660
|
0.00001
|
NM_015629.4(PRPF31):c.1140C>T (p.Phe380=)
|
rs1411083098
|
0.00001
|
NM_015629.4(PRPF31):c.421-9C>T
|
rs201443830
|
0.00001
|
NM_015629.4(PRPF31):c.504C>T (p.Ser168=)
|
rs1281473715
|
0.00001
|
NM_015629.4(PRPF31):c.893A>G (p.Lys298Arg)
|
rs763668481
|
0.00001
|
NM_015629.4(PRPF31):c.921T>C (p.Ser307=)
|
rs368242197
|
0.00001
|
NM_015629.4(PRPF31):c.976C>T (p.Arg326Cys)
|
rs1180860515
|
0.00001
|
NM_015662.3(IFT172):c.1058A>G (p.Tyr353Cys)
|
rs749207320
|
0.00001
|
NM_015662.3(IFT172):c.1099C>T (p.Arg367Cys)
|
rs755816980
|
0.00001
|
NM_015662.3(IFT172):c.1108G>A (p.Val370Met)
|
rs1186256423
|
0.00001
|
NM_015662.3(IFT172):c.1160T>G (p.Leu387Arg)
|
rs745554539
|
0.00001
|
NM_015662.3(IFT172):c.1172C>T (p.Ala391Val)
|
rs781225823
|
0.00001
|
NM_015662.3(IFT172):c.1215T>G (p.Asn405Lys)
|
rs143661402
|
0.00001
|
NM_015662.3(IFT172):c.1221T>G (p.Asn407Lys)
|
rs1470090185
|
0.00001
|
NM_015662.3(IFT172):c.1295G>A (p.Arg432His)
|
rs1327376049
|
0.00001
|
NM_015662.3(IFT172):c.1306A>G (p.Met436Val)
|
rs753911273
|
0.00001
|
NM_015662.3(IFT172):c.1352G>A (p.Arg451Gln)
|
rs753504432
|
0.00001
|
NM_015662.3(IFT172):c.1355G>A (p.Gly452Glu)
|
rs763724145
|
0.00001
|
NM_015662.3(IFT172):c.1417C>G (p.Leu473Val)
|
rs772607856
|
0.00001
|
NM_015662.3(IFT172):c.1444G>A (p.Val482Ile)
|
rs771104054
|
0.00001
|
NM_015662.3(IFT172):c.1522C>T (p.Arg508Cys)
|
rs371011000
|
0.00001
|
NM_015662.3(IFT172):c.1537G>A (p.Asp513Asn)
|
rs959481954
|
0.00001
|
NM_015662.3(IFT172):c.1579T>C (p.Ser527Pro)
|
rs771614435
|
0.00001
|
NM_015662.3(IFT172):c.159C>A (p.Phe53Leu)
|
rs768058682
|
0.00001
|
NM_015662.3(IFT172):c.1609G>A (p.Val537Met)
|
rs868020223
|
0.00001
|
NM_015662.3(IFT172):c.1628G>A (p.Arg543Gln)
|
rs755926439
|
0.00001
|
NM_015662.3(IFT172):c.167A>C (p.Lys56Thr)
|
rs780205001
|
0.00001
|
NM_015662.3(IFT172):c.1694G>A (p.Gly565Asp)
|
rs758357901
|
0.00001
|
NM_015662.3(IFT172):c.1715G>A (p.Arg572Gln)
|
rs764302265
|
0.00001
|
NM_015662.3(IFT172):c.178A>G (p.Met60Val)
|
rs758377122
|
0.00001
|
NM_015662.3(IFT172):c.1880T>C (p.Met627Thr)
|
rs147288623
|
0.00001
|
NM_015662.3(IFT172):c.1937+10A>G
|
rs544892086
|
0.00001
|
NM_015662.3(IFT172):c.2035A>G (p.Thr679Ala)
|
rs746240262
|
0.00001
|
NM_015662.3(IFT172):c.2050G>A (p.Val684Ile)
|
rs1400020833
|
0.00001
|
NM_015662.3(IFT172):c.2059C>T (p.Arg687Cys)
|
rs145946722
|
0.00001
|
NM_015662.3(IFT172):c.2155C>T (p.His719Tyr)
|
rs144645349
|
0.00001
|
NM_015662.3(IFT172):c.2194-3C>T
|
rs906297666
|
0.00001
|
NM_015662.3(IFT172):c.2218C>T (p.Arg740Cys)
|
rs187728607
|
0.00001
|
NM_015662.3(IFT172):c.2221C>T (p.Arg741Cys)
|
rs984586780
|
0.00001
|
NM_015662.3(IFT172):c.2293G>A (p.Asp765Asn)
|
rs367874978
|
0.00001
|
NM_015662.3(IFT172):c.2308A>G (p.Ile770Val)
|
rs145926013
|
0.00001
|
NM_015662.3(IFT172):c.239A>C (p.Lys80Thr)
|
rs766853711
|
0.00001
|
NM_015662.3(IFT172):c.2413G>T (p.Ala805Ser)
|
rs1387032631
|
0.00001
|
NM_015662.3(IFT172):c.2452C>T (p.Leu818Phe)
|
rs374015331
|
0.00001
|
NM_015662.3(IFT172):c.2498G>A (p.Arg833His)
|
rs756767071
|
0.00001
|
NM_015662.3(IFT172):c.2509G>A (p.Ala837Thr)
|
rs752494593
|
0.00001
|
NM_015662.3(IFT172):c.2537G>A (p.Arg846Gln)
|
rs199784373
|
0.00001
|
NM_015662.3(IFT172):c.2548C>G (p.Pro850Ala)
|
rs1401639649
|
0.00001
|
NM_015662.3(IFT172):c.263A>G (p.Asn88Ser)
|
rs1443634104
|
0.00001
|
NM_015662.3(IFT172):c.2653A>G (p.Lys885Glu)
|
rs975731134
|
0.00001
|
NM_015662.3(IFT172):c.2680C>T (p.Arg894Cys)
|
rs370531520
|
0.00001
|
NM_015662.3(IFT172):c.2691G>T (p.Lys897Asn)
|
rs1320948238
|
0.00001
|
NM_015662.3(IFT172):c.2695G>A (p.Ala899Thr)
|
rs776148073
|
0.00001
|
NM_015662.3(IFT172):c.2846C>A (p.Thr949Asn)
|
rs1275938087
|
0.00001
|
NM_015662.3(IFT172):c.2875A>G (p.Lys959Glu)
|
rs1271431771
|
0.00001
|
NM_015662.3(IFT172):c.2897G>C (p.Arg966Thr)
|
rs1009534874
|
0.00001
|
NM_015662.3(IFT172):c.2981A>G (p.Tyr994Cys)
|
rs994624984
|
0.00001
|
NM_015662.3(IFT172):c.2998C>G (p.Pro1000Ala)
|
rs569281478
|
0.00001
|
NM_015662.3(IFT172):c.3052C>T (p.Arg1018Cys)
|
rs1358114348
|
0.00001
|
NM_015662.3(IFT172):c.3094C>T (p.His1032Tyr)
|
rs752920969
|
0.00001
|
NM_015662.3(IFT172):c.3131G>A (p.Arg1044Gln)
|
rs755990223
|
0.00001
|
NM_015662.3(IFT172):c.3178G>A (p.Ala1060Thr)
|
rs560379580
|
0.00001
|
NM_015662.3(IFT172):c.3196C>T (p.Arg1066Trp)
|
rs148997142
|
0.00001
|
NM_015662.3(IFT172):c.3226A>G (p.Arg1076Gly)
|
rs770486522
|
0.00001
|
NM_015662.3(IFT172):c.3244G>A (p.Gly1082Arg)
|
rs1008321384
|
0.00001
|
NM_015662.3(IFT172):c.3368A>G (p.Asn1123Ser)
|
rs146615936
|
0.00001
|
NM_015662.3(IFT172):c.3370T>C (p.Cys1124Arg)
|
rs931407294
|
0.00001
|
NM_015662.3(IFT172):c.338G>A (p.Ser113Asn)
|
rs778306652
|
0.00001
|
NM_015662.3(IFT172):c.347C>T (p.Thr116Ile)
|
rs751230602
|
0.00001
|
NM_015662.3(IFT172):c.3568G>A (p.Val1190Met)
|
rs1456528874
|
0.00001
|
NM_015662.3(IFT172):c.3575A>G (p.Glu1192Gly)
|
rs1356192791
|
0.00001
|
NM_015662.3(IFT172):c.3583G>A (p.Asp1195Asn)
|
rs762074176
|
0.00001
|
NM_015662.3(IFT172):c.3622C>T (p.Arg1208Trp)
|
rs779395435
|
0.00001
|
NM_015662.3(IFT172):c.3746G>A (p.Cys1249Tyr)
|
rs139455520
|
0.00001
|
NM_015662.3(IFT172):c.3752A>T (p.Asp1251Val)
|
rs1665910456
|
0.00001
|
NM_015662.3(IFT172):c.3767A>G (p.Gln1256Arg)
|
rs765703265
|
0.00001
|
NM_015662.3(IFT172):c.3778C>G (p.Leu1260Val)
|
rs1012597627
|
0.00001
|
NM_015662.3(IFT172):c.3796C>T (p.Arg1266Trp)
|
rs902724768
|
0.00001
|
NM_015662.3(IFT172):c.3836T>C (p.Phe1279Ser)
|
rs1303152998
|
0.00001
|
NM_015662.3(IFT172):c.3859G>A (p.Glu1287Lys)
|
rs1336146422
|
0.00001
|
NM_015662.3(IFT172):c.3877A>G (p.Ser1293Gly)
|
rs780413940
|
0.00001
|
NM_015662.3(IFT172):c.3881G>A (p.Arg1294His)
|
rs947637366
|
0.00001
|
NM_015662.3(IFT172):c.3886G>A (p.Val1296Met)
|
rs757728167
|
0.00001
|
NM_015662.3(IFT172):c.3908G>A (p.Arg1303Gln)
|
rs768194578
|
0.00001
|
NM_015662.3(IFT172):c.3932C>T (p.Ala1311Val)
|
rs760562906
|
0.00001
|
NM_015662.3(IFT172):c.4003G>A (p.Val1335Ile)
|
rs755670491
|
0.00001
|
NM_015662.3(IFT172):c.4034T>C (p.Ile1345Thr)
|
rs766061673
|
0.00001
|
NM_015662.3(IFT172):c.403G>A (p.Val135Ile)
|
rs201476743
|
0.00001
|
NM_015662.3(IFT172):c.407G>A (p.Arg136His)
|
rs763923637
|
0.00001
|
NM_015662.3(IFT172):c.4180C>G (p.Gln1394Glu)
|
rs963343817
|
0.00001
|
NM_015662.3(IFT172):c.4199T>C (p.Leu1400Pro)
|
rs371612970
|
0.00001
|
NM_015662.3(IFT172):c.421A>G (p.Lys141Glu)
|
rs760582917
|
0.00001
|
NM_015662.3(IFT172):c.4239T>G (p.Asp1413Glu)
|
rs748345321
|
0.00001
|
NM_015662.3(IFT172):c.4244T>G (p.Ile1415Arg)
|
rs1665446592
|
0.00001
|
NM_015662.3(IFT172):c.4351A>G (p.Thr1451Ala)
|
rs761701917
|
0.00001
|
NM_015662.3(IFT172):c.4366G>A (p.Glu1456Lys)
|
rs775476765
|
0.00001
|
NM_015662.3(IFT172):c.4417G>A (p.Ala1473Thr)
|
rs749834823
|
0.00001
|
NM_015662.3(IFT172):c.4539+6G>A
|
rs745480523
|
0.00001
|
NM_015662.3(IFT172):c.4542T>G (p.Cys1514Trp)
|
rs758565766
|
0.00001
|
NM_015662.3(IFT172):c.4588G>A (p.Glu1530Lys)
|
rs764604255
|
0.00001
|
NM_015662.3(IFT172):c.4637C>T (p.Ala1546Val)
|
rs1290255701
|
0.00001
|
NM_015662.3(IFT172):c.4644G>C (p.Gln1548His)
|
rs746827700
|
0.00001
|
NM_015662.3(IFT172):c.4677G>C (p.Arg1559Ser)
|
rs777980611
|
0.00001
|
NM_015662.3(IFT172):c.4759G>A (p.Val1587Ile)
|
rs774941853
|
0.00001
|
NM_015662.3(IFT172):c.4775T>C (p.Met1592Thr)
|
rs773569919
|
0.00001
|
NM_015662.3(IFT172):c.4847A>G (p.Asp1616Gly)
|
rs754517347
|
0.00001
|
NM_015662.3(IFT172):c.4908T>G (p.His1636Gln)
|
rs201840472
|
0.00001
|
NM_015662.3(IFT172):c.4921G>A (p.Glu1641Lys)
|
rs370504937
|
0.00001
|
NM_015662.3(IFT172):c.4937G>A (p.Arg1646Gln)
|
rs549415233
|
0.00001
|
NM_015662.3(IFT172):c.4975G>C (p.Glu1659Gln)
|
rs1488810130
|
0.00001
|
NM_015662.3(IFT172):c.4981G>A (p.Val1661Ile)
|
rs779670290
|
0.00001
|
NM_015662.3(IFT172):c.4991G>A (p.Arg1664Gln)
|
rs749884570
|
0.00001
|
NM_015662.3(IFT172):c.4997A>G (p.Glu1666Gly)
|
rs1664968356
|
0.00001
|
NM_015662.3(IFT172):c.4999C>T (p.Arg1667Cys)
|
rs757212554
|
0.00001
|
NM_015662.3(IFT172):c.5053C>T (p.Pro1685Ser)
|
rs775285304
|
0.00001
|
NM_015662.3(IFT172):c.5059C>T (p.Leu1687Phe)
|
rs917873749
|
0.00001
|
NM_015662.3(IFT172):c.5149A>C (p.Met1717Leu)
|
rs146309780
|
0.00001
|
NM_015662.3(IFT172):c.5160+5G>A
|
rs1664926036
|
0.00001
|
NM_015662.3(IFT172):c.5170A>C (p.Ser1724Arg)
|
rs148800421
|
0.00001
|
NM_015662.3(IFT172):c.5182C>A (p.Gln1728Lys)
|
rs753075654
|
0.00001
|
NM_015662.3(IFT172):c.5188G>A (p.Val1730Met)
|
rs985755052
|
0.00001
|
NM_015662.3(IFT172):c.599C>G (p.Pro200Arg)
|
rs776260844
|
0.00001
|
NM_015662.3(IFT172):c.59C>T (p.Thr20Ile)
|
rs751486617
|
0.00001
|
NM_015662.3(IFT172):c.5A>C (p.His2Pro)
|
rs781257867
|
0.00001
|
NM_015662.3(IFT172):c.610G>T (p.Ala204Ser)
|
rs1437164423
|
0.00001
|
NM_015662.3(IFT172):c.649C>T (p.Arg217Trp)
|
rs773661262
|
0.00001
|
NM_015662.3(IFT172):c.739G>C (p.Val247Leu)
|
rs144379702
|
0.00001
|
NM_015662.3(IFT172):c.785G>T (p.Arg262Met)
|
rs1235295289
|
0.00001
|
NM_015662.3(IFT172):c.790C>T (p.Arg264Trp)
|
rs750783565
|
0.00001
|
NM_015662.3(IFT172):c.812G>A (p.Arg271Gln)
|
rs375847990
|
0.00001
|
NM_015662.3(IFT172):c.860A>G (p.Tyr287Cys)
|
rs766223232
|
0.00001
|
NM_015662.3(IFT172):c.8T>G (p.Leu3Trp)
|
rs1246454433
|
0.00001
|
NM_015662.3(IFT172):c.909G>A (p.Val303=)
|
rs139685481
|
0.00001
|
NM_015662.3(IFT172):c.952C>G (p.Arg318Gly)
|
rs751177541
|
0.00001
|
NM_015702.3(MMADHC):c.127C>T (p.His43Tyr)
|
rs775175927
|
0.00001
|
NM_015702.3(MMADHC):c.152T>C (p.Ile51Thr)
|
rs755472574
|
0.00001
|
NM_015702.3(MMADHC):c.155-3C>T
|
rs773403678
|
0.00001
|
NM_015702.3(MMADHC):c.244T>G (p.Cys82Gly)
|
rs760590651
|
0.00001
|
NM_015702.3(MMADHC):c.406A>G (p.Ser136Gly)
|
rs1345924349
|
0.00001
|
NM_015702.3(MMADHC):c.41A>G (p.Tyr14Cys)
|
rs756550492
|
0.00001
|
NM_015702.3(MMADHC):c.434G>C (p.Arg145Thr)
|
rs780889876
|
0.00001
|
NM_015702.3(MMADHC):c.742C>T (p.Arg248Cys)
|
rs544727246
|
0.00001
|
NM_015702.3(MMADHC):c.80A>G (p.Asn27Ser)
|
rs766017009
|
0.00001
|
NM_016247.4(IMPG2):c.*1599G>A
|
rs534752065
|
0.00001
|
NM_016247.4(IMPG2):c.*1735C>T
|
rs1706207587
|
0.00001
|
NM_016247.4(IMPG2):c.*2329T>C
|
rs1207513458
|
0.00001
|
NM_016247.4(IMPG2):c.*3824C>T
|
rs561273259
|
0.00001
|
NM_016247.4(IMPG2):c.*868C>T
|
rs1201916028
|
0.00001
|
NM_016247.4(IMPG2):c.1219G>T (p.Ala407Ser)
|
rs199986912
|
0.00001
|
NM_016247.4(IMPG2):c.1298C>T (p.Pro433Leu)
|
rs1243396074
|
0.00001
|
NM_016247.4(IMPG2):c.2431T>G (p.Ser811Ala)
|
rs76048775
|
0.00001
|
NM_016247.4(IMPG2):c.2800T>C (p.Leu934=)
|
rs764443272
|
0.00001
|
NM_016247.4(IMPG2):c.2802+8T>C
|
rs886057687
|
0.00001
|
NM_016247.4(IMPG2):c.2847A>G (p.Leu949=)
|
rs371471872
|
0.00001
|
NM_016247.4(IMPG2):c.3179T>G (p.Phe1060Cys)
|
rs781743972
|
0.00001
|
NM_016247.4(IMPG2):c.3355A>G (p.Ile1119Val)
|
rs886057686
|
0.00001
|
NM_016247.4(IMPG2):c.3703G>C (p.Glu1235Gln)
|
rs750183083
|
0.00001
|
NM_016247.4(IMPG2):c.887+10C>T
|
rs767130055
|
0.00001
|
NM_016335.6(PRODH):c.1006G>A (p.Ala336Thr)
|
rs1160517835
|
0.00001
|
NM_016335.6(PRODH):c.1294C>T (p.Arg432Cys)
|
rs376682221
|
0.00001
|
NM_016335.6(PRODH):c.131C>G (p.Thr44Arg)
|
rs562183461
|
0.00001
|
NM_016335.6(PRODH):c.1615+1G>C
|
rs745902339
|
0.00001
|
NM_016373.4(WWOX):c.228T>C (p.Val76=)
|
rs370579498
|
0.00001
|
NM_016373.4(WWOX):c.325G>A (p.Gly109Ser)
|
rs770001837
|
0.00001
|
NM_016373.4(WWOX):c.500G>A (p.Arg167His)
|
rs377356629
|
0.00001
|
NM_016373.4(WWOX):c.59C>T (p.Pro20Leu)
|
rs761638116
|
0.00001
|
NM_016373.4(WWOX):c.605+5G>A
|
rs1039151413
|
0.00001
|
NM_016373.4(WWOX):c.989A>G (p.Asn330Ser)
|
rs746833923
|
0.00001
|
NM_016579.4(CD320):c.202G>A (p.Val68Met)
|
rs748020753
|
0.00001
|
NM_016579.4(CD320):c.212C>G (p.Thr71Ser)
|
rs560650557
|
0.00001
|
NM_016579.4(CD320):c.32C>A (p.Ala11Glu)
|
rs567898376
|
0.00001
|
NM_016579.4(CD320):c.334G>A (p.Gly112Ser)
|
rs948576208
|
0.00001
|
NM_016579.4(CD320):c.404G>T (p.Gly135Val)
|
rs751841592
|
0.00001
|
NM_016579.4(CD320):c.7G>A (p.Gly3Ser)
|
rs778033415
|
0.00001
|
NM_017739.4(POMGNT1):c.1010T>C (p.Ile337Thr)
|
rs138745073
|
0.00001
|
NM_017739.4(POMGNT1):c.107G>A (p.Arg36Gln)
|
rs768700187
|
0.00001
|
NM_017739.4(POMGNT1):c.1438C>T (p.Arg480Trp)
|
rs1011150724
|
0.00001
|
NM_017739.4(POMGNT1):c.1721C>T (p.Thr574Ile)
|
rs556069604
|
0.00001
|
NM_017739.4(POMGNT1):c.652+5C>T
|
rs771669680
|
0.00001
|
NM_017739.4(POMGNT1):c.793C>T (p.Arg265Cys)
|
rs774752168
|
0.00001
|
NM_017739.4(POMGNT1):c.799C>T (p.Arg267Cys)
|
rs148131756
|
0.00001
|
NM_017739.4(POMGNT1):c.902A>G (p.Asn301Ser)
|
rs754653320
|
0.00001
|
NM_018368.4(LMBRD1):c.1157G>A (p.Arg386Gln)
|
rs772350306
|
0.00001
|
NM_018368.4(LMBRD1):c.115C>T (p.Arg39Trp)
|
rs748879055
|
0.00001
|
NM_018368.4(LMBRD1):c.116G>A (p.Arg39Gln)
|
rs886061692
|
0.00001
|
NM_018368.4(LMBRD1):c.1214C>G (p.Thr405Ser)
|
rs561265847
|
0.00001
|
NM_018368.4(LMBRD1):c.1217G>A (p.Arg406Lys)
|
rs1364347331
|
0.00001
|
NM_018368.4(LMBRD1):c.1347A>G (p.Ile449Met)
|
rs771561971
|
0.00001
|
NM_018368.4(LMBRD1):c.1382C>G (p.Ser461Cys)
|
rs781535724
|
0.00001
|
NM_018368.4(LMBRD1):c.1613A>G (p.Tyr538Cys)
|
rs982934588
|
0.00001
|
NM_018368.4(LMBRD1):c.166A>G (p.Ile56Val)
|
rs765308443
|
0.00001
|
NM_018368.4(LMBRD1):c.41G>C (p.Gly14Ala)
|
rs201773048
|
0.00001
|
NM_018368.4(LMBRD1):c.596C>T (p.Ser199Phe)
|
rs1562105981
|
0.00001
|
NM_018368.4(LMBRD1):c.649T>C (p.Ser217Pro)
|
rs1766557026
|
0.00001
|
NM_018368.4(LMBRD1):c.7A>G (p.Thr3Ala)
|
rs1297619412
|
0.00001
|
NM_018368.4(LMBRD1):c.867T>A (p.Ile289=)
|
rs747318789
|
0.00001
|
NM_018368.4(LMBRD1):c.907C>A (p.Pro303Thr)
|
rs752377027
|
0.00001
|
NM_018418.5(SPATA7):c.1428G>A (p.Ser476=)
|
rs140192398
|
0.00001
|
NM_018418.5(SPATA7):c.1679A>C (p.Asn560Thr)
|
rs886050874
|
0.00001
|
NM_018418.5(SPATA7):c.19+7G>A
|
rs199560035
|
0.00001
|
NM_018418.5(SPATA7):c.372+11A>G
|
rs757636745
|
0.00001
|
NM_018418.5(SPATA7):c.429T>G (p.Phe143Leu)
|
rs1469531734
|
0.00001
|
NM_018418.5(SPATA7):c.716C>T (p.Pro239Leu)
|
rs760214171
|
0.00001
|
NM_018418.5(SPATA7):c.890A>T (p.Asp297Val)
|
rs769211713
|
0.00001
|
NM_018706.7(DHTKD1):c.1118C>T (p.Pro373Leu)
|
rs556384043
|
0.00001
|
NM_018706.7(DHTKD1):c.1159+4C>T
|
rs376431681
|
0.00001
|
NM_018706.7(DHTKD1):c.1229G>A (p.Arg410Gln)
|
rs748482829
|
0.00001
|
NM_018706.7(DHTKD1):c.128C>G (p.Pro43Arg)
|
rs1277649888
|
0.00001
|
NM_018706.7(DHTKD1):c.1307A>G (p.Asn436Ser)
|
rs368119003
|
0.00001
|
NM_018706.7(DHTKD1):c.1315G>C (p.Asp439His)
|
rs995123652
|
0.00001
|
NM_018706.7(DHTKD1):c.1477A>G (p.Asn493Asp)
|
rs761255122
|
0.00001
|
NM_018706.7(DHTKD1):c.155-17A>G
|
rs746248223
|
0.00001
|
NM_018706.7(DHTKD1):c.1850A>C (p.Tyr617Ser)
|
rs773859468
|
0.00001
|
NM_018706.7(DHTKD1):c.1981T>G (p.Trp661Gly)
|
rs755428426
|
0.00001
|
NM_018706.7(DHTKD1):c.2135G>A (p.Arg712Gln)
|
rs755668251
|
0.00001
|
NM_018706.7(DHTKD1):c.2176G>C (p.Gly726Arg)
|
rs763086542
|
0.00001
|
NM_018706.7(DHTKD1):c.2206G>A (p.Val736Met)
|
rs761744657
|
0.00001
|
NM_018706.7(DHTKD1):c.2284_2286del (p.Ile762del)
|
rs765370424
|
0.00001
|
NM_018706.7(DHTKD1):c.2285T>C (p.Ile762Thr)
|
rs773205356
|
0.00001
|
NM_018706.7(DHTKD1):c.229T>G (p.Phe77Val)
|
rs371209000
|
0.00001
|
NM_018706.7(DHTKD1):c.2326G>T (p.Val776Leu)
|
rs200042516
|
0.00001
|
NM_018706.7(DHTKD1):c.2402+3A>G
|
rs754298961
|
0.00001
|
NM_018706.7(DHTKD1):c.240A>C (p.Gln80His)
|
rs1407480386
|
0.00001
|
NM_018706.7(DHTKD1):c.2465C>T (p.Ser822Phe)
|
rs768650459
|
0.00001
|
NM_018706.7(DHTKD1):c.2611C>T (p.Pro871Ser)
|
rs150960212
|
0.00001
|
NM_018706.7(DHTKD1):c.2627C>T (p.Ser876Phe)
|
rs569696877
|
0.00001
|
NM_018706.7(DHTKD1):c.2740C>G (p.Leu914Val)
|
rs200646026
|
0.00001
|
NM_018706.7(DHTKD1):c.2747A>G (p.Lys916Arg)
|
rs1016086446
|
0.00001
|
NM_018706.7(DHTKD1):c.311-3C>G
|
rs761346066
|
0.00001
|
NM_018706.7(DHTKD1):c.403T>G (p.Ser135Ala)
|
rs755902715
|
0.00001
|
NM_018706.7(DHTKD1):c.522+3A>G
|
rs1204654576
|
0.00001
|
NM_018706.7(DHTKD1):c.577G>A (p.Glu193Lys)
|
rs1052367278
|
0.00001
|
NM_018706.7(DHTKD1):c.824C>T (p.Ala275Val)
|
rs374760148
|
0.00001
|
NM_018706.7(DHTKD1):c.886G>A (p.Val296Met)
|
rs763791918
|
0.00001
|
NM_018706.7(DHTKD1):c.920C>T (p.Ser307Phe)
|
rs777908204
|
0.00001
|
NM_018706.7(DHTKD1):c.931G>A (p.Gly311Ser)
|
rs372367790
|
0.00001
|
NM_018706.7(DHTKD1):c.965G>C (p.Gly322Ala)
|
rs200814440
|
0.00001
|
NM_020166.5(MCCC1):c.*90G>A
|
rs894828851
|
0.00001
|
NM_020166.5(MCCC1):c.1048A>G (p.Ile350Val)
|
rs965802215
|
0.00001
|
NM_020166.5(MCCC1):c.1127C>T (p.Thr376Ile)
|
rs1714102747
|
0.00001
|
NM_020166.5(MCCC1):c.1147G>A (p.Glu383Lys)
|
rs1333357031
|
0.00001
|
NM_020166.5(MCCC1):c.1222C>T (p.Pro408Ser)
|
rs1560224165
|
0.00001
|
NM_020166.5(MCCC1):c.1259T>C (p.Val420Ala)
|
rs946293038
|
0.00001
|
NM_020166.5(MCCC1):c.1261C>T (p.Arg421Trp)
|
rs764744442
|
0.00001
|
NM_020166.5(MCCC1):c.1268-7A>G
|
rs1417892958
|
0.00001
|
NM_020166.5(MCCC1):c.1281C>T (p.Ser427=)
|
rs763713221
|
0.00001
|
NM_020166.5(MCCC1):c.1330C>T (p.Arg444Cys)
|
rs375996272
|
0.00001
|
NM_020166.5(MCCC1):c.134C>T (p.Thr45Ile)
|
rs1410294013
|
0.00001
|
NM_020166.5(MCCC1):c.135A>T (p.Thr45=)
|
rs1286585591
|
0.00001
|
NM_020166.5(MCCC1):c.1366C>T (p.Arg456Cys)
|
rs369847846
|
0.00001
|
NM_020166.5(MCCC1):c.1399A>T (p.Ile467Phe)
|
rs727504003
|
0.00001
|
NM_020166.5(MCCC1):c.1594+6G>C
|
rs777825199
|
0.00001
|
NM_020166.5(MCCC1):c.1632A>C (p.Arg544Ser)
|
rs1553853001
|
0.00001
|
NM_020166.5(MCCC1):c.1682-3A>G
|
rs760180709
|
0.00001
|
NM_020166.5(MCCC1):c.1682A>G (p.Asn561Ser)
|
rs112307657
|
0.00001
|
NM_020166.5(MCCC1):c.1703A>G (p.Tyr568Cys)
|
rs1577245387
|
0.00001
|
NM_020166.5(MCCC1):c.1722T>C (p.Tyr574=)
|
rs747015041
|
0.00001
|
NM_020166.5(MCCC1):c.1730A>G (p.Gln577Arg)
|
rs749473644
|
0.00001
|
NM_020166.5(MCCC1):c.1839C>A (p.Ile613=)
|
rs201782543
|
0.00001
|
NM_020166.5(MCCC1):c.1842G>A (p.Leu614=)
|
rs758827154
|
0.00001
|
NM_020166.5(MCCC1):c.1928A>G (p.Gln643Arg)
|
rs755699519
|
0.00001
|
NM_020166.5(MCCC1):c.1994G>A (p.Gly665Glu)
|
rs903196916
|
0.00001
|
NM_020166.5(MCCC1):c.208A>G (p.Lys70Glu)
|
rs750133436
|
0.00001
|
NM_020166.5(MCCC1):c.239G>A (p.Ser80Asn)
|
rs774565207
|
0.00001
|
NM_020166.5(MCCC1):c.263A>G (p.His88Arg)
|
rs1352224093
|
0.00001
|
NM_020166.5(MCCC1):c.283G>A (p.Ala95Thr)
|
rs1453501166
|
0.00001
|
NM_020166.5(MCCC1):c.302C>T (p.Ala101Val)
|
rs772547872
|
0.00001
|
NM_020166.5(MCCC1):c.314A>G (p.Gln105Arg)
|
rs746430473
|
0.00001
|
NM_020166.5(MCCC1):c.350C>T (p.Ala117Val)
|
rs754963220
|
0.00001
|
NM_020166.5(MCCC1):c.373A>G (p.Ile125Val)
|
rs780072787
|
0.00001
|
NM_020166.5(MCCC1):c.491G>A (p.Ser164Asn)
|
rs1055095015
|
0.00001
|
NM_020166.5(MCCC1):c.492-4A>G
|
rs908545297
|
0.00001
|
NM_020166.5(MCCC1):c.596G>T (p.Gly199Val)
|
rs1198116993
|
0.00001
|
NM_020166.5(MCCC1):c.619G>A (p.Val207Ile)
|
rs149268368
|
0.00001
|
NM_020166.5(MCCC1):c.635G>C (p.Gly212Ala)
|
rs749287771
|
0.00001
|
NM_020166.5(MCCC1):c.641G>A (p.Gly214Glu)
|
rs1248070890
|
0.00001
|
NM_020166.5(MCCC1):c.694C>T (p.Arg232Trp)
|
rs727504004
|
0.00001
|
NM_020166.5(MCCC1):c.711G>T (p.Lys237Asn)
|
rs1716633366
|
0.00001
|
NM_020166.5(MCCC1):c.739G>A (p.Glu247Lys)
|
rs952738286
|
0.00001
|
NM_020166.5(MCCC1):c.762G>A (p.Arg254=)
|
rs149389595
|
0.00001
|
NM_020166.5(MCCC1):c.793C>T (p.His265Tyr)
|
rs767642062
|
0.00001
|
NM_020166.5(MCCC1):c.83C>T (p.Pro28Leu)
|
rs1164035251
|
0.00001
|
NM_020166.5(MCCC1):c.842G>A (p.Arg281Gln)
|
rs754437245
|
0.00001
|
NM_020166.5(MCCC1):c.863A>G (p.Glu288Gly)
|
rs746500530
|
0.00001
|
NM_020166.5(MCCC1):c.877G>A (p.Gly293Ser)
|
rs974953181
|
0.00001
|
NM_020166.5(MCCC1):c.9G>A (p.Ala3=)
|
rs1191355416
|
0.00001
|
NM_020208.4(SLC6A20):c.512C>T (p.Ala171Val)
|
rs781203780
|
0.00001
|
NM_020686.6(ABAT):c.*1393C>T
|
rs537653612
|
0.00001
|
NM_020686.6(ABAT):c.*1602G>A
|
rs1477666290
|
0.00001
|
NM_020686.6(ABAT):c.*1861C>A
|
rs549811316
|
0.00001
|
NM_020686.6(ABAT):c.*1862C>T
|
rs1406159963
|
0.00001
|
NM_020686.6(ABAT):c.*2089G>A
|
rs1166367154
|
0.00001
|
NM_020686.6(ABAT):c.*2193T>G
|
rs1045051678
|
0.00001
|
NM_020686.6(ABAT):c.*2712T>C
|
rs2060496519
|
0.00001
|
NM_020686.6(ABAT):c.*3020A>G
|
rs886052448
|
0.00001
|
NM_020686.6(ABAT):c.*942C>T
|
rs886052436
|
0.00001
|
NM_020686.6(ABAT):c.1018G>A (p.Ala340Thr)
|
rs2060223213
|
0.00001
|
NM_020686.6(ABAT):c.1057A>G (p.Met353Val)
|
rs760898650
|
0.00001
|
NM_020686.6(ABAT):c.1082C>G (p.Thr361Ser)
|
rs774473099
|
0.00001
|
NM_020686.6(ABAT):c.110T>C (p.Val37Ala)
|
rs373781844
|
0.00001
|
NM_020686.6(ABAT):c.1129C>T (p.Arg377Trp)
|
rs1330995774
|
0.00001
|
NM_020686.6(ABAT):c.1130G>A (p.Arg377Gln)
|
rs370489933
|
0.00001
|
NM_020686.6(ABAT):c.1207G>A (p.Asp403Asn)
|
rs751974207
|
0.00001
|
NM_020686.6(ABAT):c.1239G>C (p.Lys413Asn)
|
rs2060265382
|
0.00001
|
NM_020686.6(ABAT):c.1327G>A (p.Asp443Asn)
|
rs750680169
|
0.00001
|
NM_020686.6(ABAT):c.1348C>T (p.Arg450Trp)
|
rs748725086
|
0.00001
|
NM_020686.6(ABAT):c.1353T>A (p.Asn451Lys)
|
rs778319783
|
0.00001
|
NM_020686.6(ABAT):c.1381+6G>A
|
rs777241102
|
0.00001
|
NM_020686.6(ABAT):c.1412C>G (p.Ser471Cys)
|
rs768495738
|
0.00001
|
NM_020686.6(ABAT):c.1424G>A (p.Arg475His)
|
rs762137050
|
0.00001
|
NM_020686.6(ABAT):c.1429A>G (p.Thr477Ala)
|
rs1292109941
|
0.00001
|
NM_020686.6(ABAT):c.1431G>A (p.Thr477=)
|
rs573157071
|
0.00001
|
NM_020686.6(ABAT):c.158C>T (p.Pro53Leu)
|
rs903906856
|
0.00001
|
NM_020686.6(ABAT):c.168+3G>A
|
rs1294985666
|
0.00001
|
NM_020686.6(ABAT):c.170A>C (p.Glu57Ala)
|
rs539748102
|
0.00001
|
NM_020686.6(ABAT):c.205G>A (p.Glu69Lys)
|
rs752701740
|
0.00001
|
NM_020686.6(ABAT):c.232G>A (p.Glu78Lys)
|
rs565305929
|
0.00001
|
NM_020686.6(ABAT):c.279G>A (p.Met93Ile)
|
rs1555490154
|
0.00001
|
NM_020686.6(ABAT):c.285T>C (p.Asp95=)
|
rs917180192
|
0.00001
|
NM_020686.6(ABAT):c.365C>T (p.Ala122Val)
|
rs761782312
|
0.00001
|
NM_020686.6(ABAT):c.387C>T (p.Pro129=)
|
rs759203240
|
0.00001
|
NM_020686.6(ABAT):c.451G>A (p.Ala151Thr)
|
rs1210477111
|
0.00001
|
NM_020686.6(ABAT):c.482T>G (p.Met161Arg)
|
rs1323737693
|
0.00001
|
NM_020686.6(ABAT):c.511G>A (p.Ala171Thr)
|
rs903118661
|
0.00001
|
NM_020686.6(ABAT):c.531G>C (p.Met177Ile)
|
rs779411867
|
0.00001
|
NM_020686.6(ABAT):c.538C>T (p.Arg180Trp)
|
rs746589996
|
0.00001
|
NM_020686.6(ABAT):c.543C>G (p.Ser181Arg)
|
rs144238624
|
0.00001
|
NM_020686.6(ABAT):c.587C>T (p.Thr196Met)
|
rs546024063
|
0.00001
|
NM_020686.6(ABAT):c.58C>G (p.Leu20Val)
|
rs747283357
|
0.00001
|
NM_020686.6(ABAT):c.592A>G (p.Met198Val)
|
rs200207185
|
0.00001
|
NM_020686.6(ABAT):c.603+6T>G
|
rs966081353
|
0.00001
|
NM_020686.6(ABAT):c.619G>A (p.Asp207Asn)
|
rs772498753
|
0.00001
|
NM_020686.6(ABAT):c.626G>A (p.Ser209Asn)
|
rs1457964207
|
0.00001
|
NM_020686.6(ABAT):c.64G>C (p.Val22Leu)
|
rs762710511
|
0.00001
|
NM_020686.6(ABAT):c.680C>G (p.Thr227Ser)
|
rs1223056561
|
0.00001
|
NM_020686.6(ABAT):c.740C>T (p.Pro247Leu)
|
rs776487124
|
0.00001
|
NM_020686.6(ABAT):c.770A>T (p.Glu257Val)
|
rs1377874387
|
0.00001
|
NM_020686.6(ABAT):c.783G>C (p.Glu261Asp)
|
rs777951918
|
0.00001
|
NM_020686.6(ABAT):c.803G>A (p.Arg268His)
|
rs570490857
|
0.00001
|
NM_020686.6(ABAT):c.841C>T (p.Arg281Trp)
|
rs755955325
|
0.00001
|
NM_020686.6(ABAT):c.874G>A (p.Val292Met)
|
rs747354047
|
0.00001
|
NM_020686.6(ABAT):c.916G>A (p.Asp306Asn)
|
rs544512086
|
0.00001
|
NM_020686.6(ABAT):c.964G>A (p.Ala322Thr)
|
rs201221998
|
0.00001
|
NM_020686.6(ABAT):c.978C>T (p.Asp326=)
|
rs201727625
|
0.00001
|
NM_021831.6(AGBL5):c.826C>T (p.Arg276Trp)
|
rs879253769
|
0.00001
|
NM_021831.6(AGBL5):c.938G>A (p.Arg313His)
|
rs1400709852
|
0.00001
|
NM_021831.6(AGBL5):c.971C>T (p.Pro324Leu)
|
rs766193452
|
0.00001
|
NM_022124.6(CDH23):c.2767G>A (p.Gly923Ser)
|
rs560251790
|
0.00001
|
NM_022132.5(MCCC2):c.*1144A>G
|
rs886060747
|
0.00001
|
NM_022132.5(MCCC2):c.*6A>G
|
rs1249235767
|
0.00001
|
NM_022132.5(MCCC2):c.*719A>G
|
rs986206032
|
0.00001
|
NM_022132.5(MCCC2):c.*839T>C
|
rs886060743
|
0.00001
|
NM_022132.5(MCCC2):c.*878T>G
|
rs886060745
|
0.00001
|
NM_022132.5(MCCC2):c.1043A>G (p.Lys348Arg)
|
rs759809368
|
0.00001
|
NM_022132.5(MCCC2):c.1108G>A (p.Val370Ile)
|
rs760363054
|
0.00001
|
NM_022132.5(MCCC2):c.1154C>G (p.Thr385Ser)
|
rs1427630056
|
0.00001
|
NM_022132.5(MCCC2):c.1178A>C (p.Gln393Pro)
|
rs750782118
|
0.00001
|
NM_022132.5(MCCC2):c.1300G>C (p.Val434Leu)
|
rs758506791
|
0.00001
|
NM_022132.5(MCCC2):c.1313C>A (p.Thr438Asn)
|
rs779770835
|
0.00001
|
NM_022132.5(MCCC2):c.1342G>A (p.Gly448Arg)
|
rs766045910
|
0.00001
|
NM_022132.5(MCCC2):c.1381T>G (p.Phe461Val)
|
rs1747390697
|
0.00001
|
NM_022132.5(MCCC2):c.1388A>G (p.Tyr463Cys)
|
rs778734586
|
0.00001
|
NM_022132.5(MCCC2):c.1441G>A (p.Val481Met)
|
rs767575019
|
0.00001
|
NM_022132.5(MCCC2):c.1474C>T (p.Arg492Trp)
|
rs531891095
|
0.00001
|
NM_022132.5(MCCC2):c.147G>C (p.Met49Ile)
|
rs756664143
|
0.00001
|
NM_022132.5(MCCC2):c.1488G>C (p.Gln496His)
|
rs745367639
|
0.00001
|
NM_022132.5(MCCC2):c.1574+5G>A
|
rs781483923
|
0.00001
|
NM_022132.5(MCCC2):c.1619T>A (p.Val540Asp)
|
rs766384881
|
0.00001
|
NM_022132.5(MCCC2):c.1640C>T (p.Ala547Val)
|
rs778172446
|
0.00001
|
NM_022132.5(MCCC2):c.1653A>G (p.Ala551=)
|
rs749529082
|
0.00001
|
NM_022132.5(MCCC2):c.1688T>C (p.Met563Thr)
|
rs373922744
|
0.00001
|
NM_022132.5(MCCC2):c.258A>G (p.Arg86=)
|
rs550220664
|
0.00001
|
NM_022132.5(MCCC2):c.302C>T (p.Ser101Phe)
|
rs748028684
|
0.00001
|
NM_022132.5(MCCC2):c.311C>T (p.Ala104Val)
|
rs771719423
|
0.00001
|
NM_022132.5(MCCC2):c.326A>G (p.Tyr109Cys)
|
rs1450884624
|
0.00001
|
NM_022132.5(MCCC2):c.330C>T (p.Asp110=)
|
rs201872484
|
0.00001
|
NM_022132.5(MCCC2):c.385G>A (p.Val129Ile)
|
rs1214498152
|
0.00001
|
NM_022132.5(MCCC2):c.436T>G (p.Tyr146Asp)
|
rs1402663229
|
0.00001
|
NM_022132.5(MCCC2):c.478G>A (p.Ala160Thr)
|
rs727504009
|
0.00001
|
NM_022132.5(MCCC2):c.484C>A (p.Gln162Lys)
|
rs944412136
|
0.00001
|
NM_022132.5(MCCC2):c.499T>C (p.Cys167Arg)
|
rs119103222
|
0.00001
|
NM_022132.5(MCCC2):c.578G>A (p.Arg193His)
|
rs535519604
|
0.00001
|
NM_022132.5(MCCC2):c.615T>G (p.Asn205Lys)
|
rs368906147
|
0.00001
|
NM_022132.5(MCCC2):c.665A>G (p.Tyr222Cys)
|
rs753735697
|
0.00001
|
NM_022132.5(MCCC2):c.675C>A (p.Ala225=)
|
rs781610298
|
0.00001
|
NM_022132.5(MCCC2):c.815T>G (p.Val272Gly)
|
rs1199145486
|
0.00001
|
NM_022132.5(MCCC2):c.851T>C (p.Leu284Pro)
|
rs376237028
|
0.00001
|
NM_022132.5(MCCC2):c.884A>G (p.Asn295Ser)
|
rs1368817393
|
0.00001
|
NM_022132.5(MCCC2):c.904-5T>A
|
rs753258629
|
0.00001
|
NM_022367.4(SEMA4A):c.*570A>C
|
rs886045370
|
0.00001
|
NM_022367.4(SEMA4A):c.1094C>T (p.Thr365Ile)
|
rs768826705
|
0.00001
|
NM_022367.4(SEMA4A):c.1174A>C (p.Met392Leu)
|
rs1475557484
|
0.00001
|
NM_022367.4(SEMA4A):c.1287C>G (p.His429Gln)
|
rs368904425
|
0.00001
|
NM_022367.4(SEMA4A):c.1685C>T (p.Pro562Leu)
|
rs780625142
|
0.00001
|
NM_022367.4(SEMA4A):c.2106C>T (p.Leu702=)
|
rs772147085
|
0.00001
|
NM_022367.4(SEMA4A):c.2131C>T (p.Arg711Trp)
|
rs762468169
|
0.00001
|
NM_022367.4(SEMA4A):c.394G>A (p.Val132Ile)
|
rs374333337
|
0.00001
|
NM_022367.4(SEMA4A):c.427G>A (p.Gly143Ser)
|
rs773687726
|
0.00001
|
NM_024649.5(BBS1):c.592-21A>T
|
rs754794374
|
0.00001
|
NM_024649.5(BBS1):c.664G>C (p.Gly222Arg)
|
rs761760689
|
0.00001
|
NM_024818.6(UBA5):c.169A>G (p.Met57Val)
|
rs532178791
|
0.00001
|
NM_024887.3(DHDDS):c.-143C>T
|
rs1011390170
|
0.00001
|
NM_025114.4(CEP290):c.2691A>G (p.Ile897Met)
|
rs774079924
|
0.00001
|
NM_025114.4(CEP290):c.3911T>C (p.Met1304Thr)
|
rs761010723
|
0.00001
|
NM_025132.4(WDR19):c.3049T>G (p.Phe1017Val)
|
rs778689889
|
0.00001
|
NM_025132.4(WDR19):c.3464A>C (p.His1155Pro)
|
rs774806370
|
0.00001
|
NM_025136.4(OPA3):c.*1052C>T
|
rs539341907
|
0.00001
|
NM_025136.4(OPA3):c.*1063G>A
|
rs1384983234
|
0.00001
|
NM_025136.4(OPA3):c.*1193A>G
|
rs1969345485
|
0.00001
|
NM_025136.4(OPA3):c.*1496C>T
|
rs938973035
|
0.00001
|
NM_025136.4(OPA3):c.*1799A>G
|
rs886054530
|
0.00001
|
NM_025136.4(OPA3):c.*2041C>G
|
rs1200054696
|
0.00001
|
NM_025136.4(OPA3):c.*2620C>A
|
rs528208456
|
0.00001
|
NM_025136.4(OPA3):c.*322A>G
|
rs886054539
|
0.00001
|
NM_025136.4(OPA3):c.*3472G>A
|
rs1305422353
|
0.00001
|
NM_025136.4(OPA3):c.*3581C>T
|
rs576070088
|
0.00001
|
NM_025136.4(OPA3):c.*4464G>T
|
rs886054522
|
0.00001
|
NM_025136.4(OPA3):c.*4763C>A
|
rs549495140
|
0.00001
|
NM_025136.4(OPA3):c.*4919_*4921del
|
rs886054514
|
0.00001
|
NM_025136.4(OPA3):c.*5888C>T
|
rs886054508
|
0.00001
|
NM_025136.4(OPA3):c.*6046G>A
|
rs1010630541
|
0.00001
|
NM_025136.4(OPA3):c.*6461C>T
|
rs886054505
|
0.00001
|
NM_025136.4(OPA3):c.*6773G>T
|
rs886054504
|
0.00001
|
NM_025136.4(OPA3):c.*7072A>T
|
rs1247746346
|
0.00001
|
NM_025136.4(OPA3):c.*7183G>A
|
rs941194280
|
0.00001
|
NM_025136.4(OPA3):c.123C>G (p.Ile41Met)
|
rs763083098
|
0.00001
|
NM_025136.4(OPA3):c.197C>T (p.Thr66Met)
|
rs753129998
|
0.00001
|
NM_025136.4(OPA3):c.224C>T (p.Ala75Val)
|
rs769541845
|
0.00001
|
NM_025136.4(OPA3):c.305_322dup (p.Gln107_Gln108insArgArgHisGlnAlaGln)
|
rs1599964564
|
0.00001
|
NM_025136.4(OPA3):c.355T>A (p.Trp119Arg)
|
rs375471439
|
0.00001
|
NM_025136.4(OPA3):c.367C>T (p.Arg123Trp)
|
rs1022155897
|
0.00001
|
NM_025136.4(OPA3):c.373G>A (p.Glu125Lys)
|
rs1346674058
|
0.00001
|
NM_025136.4(OPA3):c.404C>G (p.Ala135Gly)
|
rs372640359
|
0.00001
|
NM_025136.4(OPA3):c.416A>G (p.Gln139Arg)
|
rs1399150102
|
0.00001
|
NM_025136.4(OPA3):c.444C>T (p.Ala148=)
|
rs759536853
|
0.00001
|
NM_025136.4(OPA3):c.487C>T (p.Leu163Phe)
|
rs780492515
|
0.00001
|
NM_025136.4(OPA3):c.499G>C (p.Gly167Arg)
|
rs1364874488
|
0.00001
|
NM_025136.4(OPA3):c.503G>A (p.Arg168Gln)
|
rs779505447
|
0.00001
|
NM_025136.4(OPA3):c.508G>A (p.Ala170Thr)
|
rs374639297
|
0.00001
|
NM_025136.4(OPA3):c.540G>C (p.Ter180Tyr)
|
rs774281852
|
0.00001
|
NM_025136.4(OPA3):c.94C>A (p.Arg32Ser)
|
rs753632531
|
0.00001
|
NM_030813.6(CLPB):c.688T>C (p.Trp230Arg)
|
rs749611577
|
0.00001
|
NM_031885.5(BBS2):c.1139A>G (p.Asn380Ser)
|
rs773720173
|
0.00001
|
NM_031885.5(BBS2):c.116A>G (p.Lys39Arg)
|
rs779677560
|
0.00001
|
NM_031885.5(BBS2):c.1190C>G (p.Thr397Ser)
|
rs368138622
|
0.00001
|
NM_031885.5(BBS2):c.1439G>A (p.Arg480Gln)
|
rs772380071
|
0.00001
|
NM_031885.5(BBS2):c.1555C>G (p.Leu519Val)
|
rs374028829
|
0.00001
|
NM_031885.5(BBS2):c.1808A>G (p.Tyr603Cys)
|
rs752749569
|
0.00001
|
NM_031885.5(BBS2):c.1891G>A (p.Ala631Thr)
|
rs771822557
|
0.00001
|
NM_031885.5(BBS2):c.2095C>T (p.Arg699Trp)
|
rs1003841433
|
0.00001
|
NM_031885.5(BBS2):c.334T>C (p.Phe112Leu)
|
rs772864503
|
0.00001
|
NM_031885.5(BBS2):c.941-20G>A
|
rs760109919
|
0.00001
|
NM_031885.5(BBS2):c.986T>C (p.Met329Thr)
|
rs201146063
|
0.00001
|
NM_032316.3(NICN1):c.*2317A>G
|
rs1553638927
|
0.00001
|
NM_032316.3(NICN1):c.*2325C>T
|
rs753743263
|
0.00001
|
NM_032861.4(SERAC1):c.1169A>G (p.Gln390Arg)
|
rs779061767
|
0.00001
|
NM_032861.4(SERAC1):c.1295C>T (p.Thr432Met)
|
rs780982964
|
0.00001
|
NM_032861.4(SERAC1):c.1403+5C>G
|
rs770722498
|
0.00001
|
NM_032861.4(SERAC1):c.1501+6T>G
|
rs760987565
|
0.00001
|
NM_032861.4(SERAC1):c.1535C>T (p.Ser512Phe)
|
rs751450632
|
0.00001
|
NM_032861.4(SERAC1):c.1537A>G (p.Thr513Ala)
|
rs201367107
|
0.00001
|
NM_032861.4(SERAC1):c.1685-3C>T
|
rs367733861
|
0.00001
|
NM_032861.4(SERAC1):c.1725_1727dup (p.Glu575_Phe576insLeu)
|
rs1478893955
|
0.00001
|
NM_032861.4(SERAC1):c.1762G>A (p.Val588Met)
|
rs756012789
|
0.00001
|
NM_032861.4(SERAC1):c.1765G>A (p.Glu589Lys)
|
rs1020569740
|
0.00001
|
NM_032861.4(SERAC1):c.1915C>T (p.Arg639Cys)
|
rs575982148
|
0.00001
|
NM_032861.4(SERAC1):c.326C>T (p.Ser109Leu)
|
rs1258024323
|
0.00001
|
NM_032861.4(SERAC1):c.677G>T (p.Cys226Phe)
|
rs1243289662
|
0.00001
|
NM_032861.4(SERAC1):c.87T>G (p.Asp29Glu)
|
rs1404505029
|
0.00001
|
NM_032861.4(SERAC1):c.935C>T (p.Pro312Leu)
|
rs1455975616
|
0.00001
|
NM_033100.4(CDHR1):c.*1008A>G
|
rs549785373
|
0.00001
|
NM_033100.4(CDHR1):c.*1260C>T
|
rs886047342
|
0.00001
|
NM_033100.4(CDHR1):c.*1426G>A
|
rs1228793503
|
0.00001
|
NM_033100.4(CDHR1):c.*2351G>A
|
rs570983583
|
0.00001
|
NM_033100.4(CDHR1):c.*3042A>G
|
rs1244408884
|
0.00001
|
NM_033100.4(CDHR1):c.*3772G>A
|
rs1167359313
|
0.00001
|
NM_033100.4(CDHR1):c.*631C>G
|
rs886047335
|
0.00001
|
NM_033100.4(CDHR1):c.*937C>T
|
rs886047339
|
0.00001
|
NM_033100.4(CDHR1):c.1058T>C (p.Phe353Ser)
|
rs771316043
|
0.00001
|
NM_033100.4(CDHR1):c.1114C>T (p.Pro372Ser)
|
rs143621397
|
0.00001
|
NM_033100.4(CDHR1):c.1320+11C>T
|
rs201940855
|
0.00001
|
NM_033100.4(CDHR1):c.2105T>A (p.Val702Glu)
|
rs778906376
|
0.00001
|
NM_033100.4(CDHR1):c.2161A>G (p.Thr721Ala)
|
rs886047328
|
0.00001
|
NM_033100.4(CDHR1):c.2462A>G (p.Gln821Arg)
|
rs375803729
|
0.00001
|
NM_033100.4(CDHR1):c.364G>A (p.Val122Met)
|
rs886047324
|
0.00001
|
NM_033100.4(CDHR1):c.542T>C (p.Phe181Ser)
|
rs184241207
|
0.00001
|
NM_033100.4(CDHR1):c.862+4A>C
|
rs1352559639
|
0.00001
|
NM_033100.4(CDHR1):c.869A>G (p.Asp290Gly)
|
rs574920135
|
0.00001
|
NM_033100.4(CDHR1):c.886A>G (p.Asn296Asp)
|
rs562607967
|
0.00001
|
NM_033100.4(CDHR1):c.964-10C>T
|
rs886047327
|
0.00001
|
NM_052845.3(MMAB):c.-69G>A
|
rs886048928
|
0.00001
|
NM_052845.4(MMAB):c.*2913C>T
|
rs901387869
|
0.00001
|
NM_052845.4(MMAB):c.*716C>T
|
rs886048921
|
0.00001
|
NM_052845.4(MMAB):c.116G>A (p.Gly39Asp)
|
rs1466525448
|
0.00001
|
NM_052845.4(MMAB):c.184A>G (p.Thr62Ala)
|
rs759809454
|
0.00001
|
NM_052845.4(MMAB):c.247T>C (p.Phe83Leu)
|
rs571555515
|
0.00001
|
NM_052845.4(MMAB):c.254C>T (p.Ala85Val)
|
rs770743560
|
0.00001
|
NM_052845.4(MMAB):c.349-10C>T
|
rs896742047
|
0.00001
|
NM_052845.4(MMAB):c.398C>T (p.Ser133Phe)
|
rs749936057
|
0.00001
|
NM_052845.4(MMAB):c.41G>A (p.Ser14Asn)
|
rs755568905
|
0.00001
|
NM_052845.4(MMAB):c.424T>C (p.Tyr142His)
|
rs886198506
|
0.00001
|
NM_052845.4(MMAB):c.516G>T (p.Leu172=)
|
rs914000089
|
0.00001
|
NM_052845.4(MMAB):c.522G>A (p.Ser174=)
|
rs545625368
|
0.00001
|
NM_052845.4(MMAB):c.577G>A (p.Glu193Lys)
|
rs749758687
|
0.00001
|
NM_052845.4(MMAB):c.584G>A (p.Arg195His)
|
rs756195708
|
0.00001
|
NM_052845.4(MMAB):c.61T>A (p.Cys21Ser)
|
rs763383858
|
0.00001
|
NM_052845.4(MMAB):c.625G>A (p.Val209Met)
|
rs200903284
|
0.00001
|
NM_052845.4(MMAB):c.644+6C>T
|
rs376868629
|
0.00001
|
NM_052845.4(MMAB):c.654C>G (p.Asp218Glu)
|
rs940651669
|
0.00001
|
NM_052845.4(MMAB):c.99G>A (p.Gln33=)
|
rs749127574
|
0.00001
|
NM_054012.4(ASS1):c.-5-10C>G
|
rs375136377
|
0.00001
|
NM_054012.4(ASS1):c.-5-12G>A
|
rs770116104
|
0.00001
|
NM_054012.4(ASS1):c.1051G>A (p.Val351Met)
|
rs773909247
|
0.00001
|
NM_054012.4(ASS1):c.1053G>A (p.Val351=)
|
rs761241799
|
0.00001
|
NM_054012.4(ASS1):c.1074G>A (p.Val358=)
|
rs1256882753
|
0.00001
|
NM_054012.4(ASS1):c.1083C>T (p.Leu361=)
|
rs78564724
|
0.00001
|
NM_054012.4(ASS1):c.1173C>A (p.Phe391Leu)
|
rs1554725724
|
0.00001
|
NM_054012.4(ASS1):c.174+11G>A
|
rs771403927
|
0.00001
|
NM_054012.4(ASS1):c.206T>C (p.Val69Ala)
|
rs771594651
|
0.00001
|
NM_054012.4(ASS1):c.247T>C (p.Tyr83His)
|
rs753659761
|
0.00001
|
NM_054012.4(ASS1):c.39C>T (p.Gly13=)
|
rs769672308
|
0.00001
|
NM_054012.4(ASS1):c.430C>T (p.Pro144Ser)
|
rs769831651
|
0.00001
|
NM_054012.4(ASS1):c.53C>T (p.Ser18Leu)
|
rs121908643
|
0.00001
|
NM_054012.4(ASS1):c.556A>G (p.Met186Val)
|
rs1845851030
|
0.00001
|
NM_054012.4(ASS1):c.577G>A (p.Gly193Arg)
|
rs1311437424
|
0.00001
|
NM_054012.4(ASS1):c.647C>A (p.Ala216Asp)
|
rs1043964127
|
0.00001
|
NM_054012.4(ASS1):c.656C>A (p.Thr219Asn)
|
rs769538241
|
0.00001
|
NM_054012.4(ASS1):c.712G>A (p.Val238Ile)
|
rs368414392
|
0.00001
|
NM_054012.4(ASS1):c.771C>T (p.Val257=)
|
rs547904731
|
0.00001
|
NM_054012.4(ASS1):c.808G>C (p.Glu270Gln)
|
rs775163147
|
0.00001
|
NM_054012.4(ASS1):c.889A>G (p.Ile297Val)
|
rs757629975
|
0.00001
|
NM_054012.4(ASS1):c.892G>A (p.Glu298Lys)
|
rs1372482894
|
0.00001
|
NM_054012.4(ASS1):c.893A>G (p.Glu298Gly)
|
rs372061654
|
0.00001
|
NM_054012.4(ASS1):c.928A>C (p.Lys310Gln)
|
rs121908648
|
0.00001
|
NM_054012.4(ASS1):c.965A>G (p.Tyr322Cys)
|
rs373473841
|
0.00001
|
NM_054012.4(ASS1):c.969C>T (p.Thr323=)
|
rs756487535
|
0.00001
|
NM_054012.4(ASS1):c.970+4C>T
|
rs1460424492
|
0.00001
|
NM_058179.4(PSAT1):c.*939C>T
|
rs1161300205
|
0.00001
|
NM_058179.4(PSAT1):c.-26T>G
|
rs1352659492
|
0.00001
|
NM_058179.4(PSAT1):c.1007+13G>A
|
rs1057515672
|
0.00001
|
NM_058179.4(PSAT1):c.1007+5G>A
|
rs747514463
|
0.00001
|
NM_058179.4(PSAT1):c.104T>A (p.Val35Asp)
|
rs761364177
|
0.00001
|
NM_058179.4(PSAT1):c.1094T>G (p.Leu365Trp)
|
rs758027795
|
0.00001
|
NM_058179.4(PSAT1):c.1103A>G (p.His368Arg)
|
rs781632079
|
0.00001
|
NM_058179.4(PSAT1):c.142G>A (p.Asp48Asn)
|
rs752037444
|
0.00001
|
NM_058179.4(PSAT1):c.151A>C (p.Lys51Gln)
|
rs759948216
|
0.00001
|
NM_058179.4(PSAT1):c.153G>T (p.Lys51Asn)
|
rs768121356
|
0.00001
|
NM_058179.4(PSAT1):c.166A>G (p.Thr56Ala)
|
rs1465646885
|
0.00001
|
NM_058179.4(PSAT1):c.170A>G (p.Glu57Gly)
|
rs754006053
|
0.00001
|
NM_058179.4(PSAT1):c.173A>G (p.Asn58Ser)
|
rs757471190
|
0.00001
|
NM_058179.4(PSAT1):c.211A>G (p.Lys71Glu)
|
rs1828155986
|
0.00001
|
NM_058179.4(PSAT1):c.241G>A (p.Gly81Ser)
|
rs745532660
|
0.00001
|
NM_058179.4(PSAT1):c.270C>T (p.Leu90=)
|
rs775726256
|
0.00001
|
NM_058179.4(PSAT1):c.328A>C (p.Lys110Gln)
|
rs753331548
|
0.00001
|
NM_058179.4(PSAT1):c.335C>T (p.Ala112Val)
|
rs778303528
|
0.00001
|
NM_058179.4(PSAT1):c.373C>T (p.His125Tyr)
|
rs997904439
|
0.00001
|
NM_058179.4(PSAT1):c.499G>A (p.Asp167Asn)
|
rs767197857
|
0.00001
|
NM_058179.4(PSAT1):c.607G>C (p.Gly203Arg)
|
rs1253727919
|
0.00001
|
NM_058179.4(PSAT1):c.649C>G (p.Leu217Val)
|
rs771502157
|
0.00001
|
NM_058179.4(PSAT1):c.677C>T (p.Ser226Leu)
|
rs1479566156
|
0.00001
|
NM_058179.4(PSAT1):c.706A>C (p.Asn236His)
|
rs138085071
|
0.00001
|
NM_058179.4(PSAT1):c.821A>C (p.Lys274Thr)
|
rs1057515671
|
0.00001
|
NM_058179.4(PSAT1):c.826C>G (p.Gln276Glu)
|
rs748962329
|
0.00001
|
NM_058179.4(PSAT1):c.851A>G (p.Asn284Ser)
|
rs760073635
|
0.00001
|
NM_058179.4(PSAT1):c.863T>G (p.Phe288Cys)
|
rs553281141
|
0.00001
|
NM_058179.4(PSAT1):c.866A>C (p.Tyr289Ser)
|
rs1828370991
|
0.00001
|
NM_058179.4(PSAT1):c.871T>C (p.Cys291Arg)
|
rs573647836
|
0.00001
|
NM_058179.4(PSAT1):c.877G>A (p.Val293Met)
|
rs1271264402
|
0.00001
|
NM_058179.4(PSAT1):c.889A>G (p.Asn297Asp)
|
rs1198065787
|
0.00001
|
NM_138393.4(REEP6):c.349-4G>T
|
rs756956302
|
0.00001
|
NM_144596.4(TTC8):c.1133T>C (p.Met378Thr)
|
rs1003053014
|
0.00001
|
NM_144596.4(TTC8):c.1215T>G (p.His405Gln)
|
rs753212470
|
0.00001
|
NM_144596.4(TTC8):c.1363C>A (p.Gln455Lys)
|
rs773278542
|
0.00001
|
NM_144596.4(TTC8):c.1402C>T (p.His468Tyr)
|
rs148602884
|
0.00001
|
NM_144596.4(TTC8):c.145-10T>C
|
rs754997963
|
0.00001
|
NM_144596.4(TTC8):c.275C>T (p.Thr92Met)
|
rs886050877
|
0.00001
|
NM_144596.4(TTC8):c.452T>A (p.Ile151Asn)
|
rs774233751
|
0.00001
|
NM_144596.4(TTC8):c.640G>A (p.Ala214Thr)
|
rs1295139564
|
0.00001
|
NM_144596.4(TTC8):c.950A>C (p.Glu317Ala)
|
rs1220094479
|
0.00001
|
NM_144631.6(ZNF513):c.-125G>T
|
rs886055909
|
0.00001
|
NM_144631.6(ZNF513):c.-188G>A
|
rs1298142054
|
0.00001
|
NM_144631.6(ZNF513):c.219T>C (p.Ser73=)
|
rs148351779
|
0.00001
|
NM_144631.6(ZNF513):c.780G>A (p.Ala260=)
|
rs554115332
|
0.00001
|
NM_144631.6(ZNF513):c.900C>T (p.Cys300=)
|
rs367962941
|
0.00001
|
NM_145199.3(LIPT1):c.131A>G (p.Asn44Ser)
|
rs1468529365
|
0.00001
|
NM_145261.4(DNAJC19):c.142G>A (p.Gly48Ser)
|
rs781284254
|
0.00001
|
NM_145261.4(DNAJC19):c.167C>A (p.Pro56His)
|
rs1714943164
|
0.00001
|
NM_145261.4(DNAJC19):c.202G>A (p.Gly68Ser)
|
rs754317673
|
0.00001
|
NM_145261.4(DNAJC19):c.295A>G (p.Ile99Val)
|
rs762783413
|
0.00001
|
NM_145261.4(DNAJC19):c.326T>C (p.Leu109Ser)
|
rs200732155
|
0.00001
|
NM_145261.4(DNAJC19):c.344A>G (p.Lys115Arg)
|
rs1253268997
|
0.00001
|
NM_152419.3(HGSNAT):c.1075G>A (p.Val359Ile)
|
rs1200184747
|
0.00001
|
NM_152419.3(HGSNAT):c.1099G>A (p.Ala367Thr)
|
rs1476919967
|
0.00001
|
NM_152419.3(HGSNAT):c.110C>T (p.Pro37Leu)
|
rs1465935790
|
0.00001
|
NM_152419.3(HGSNAT):c.1128G>A (p.Ser376=)
|
rs770462636
|
0.00001
|
NM_152419.3(HGSNAT):c.1160C>T (p.Thr387Met)
|
rs370653879
|
0.00001
|
NM_152419.3(HGSNAT):c.1218G>T (p.Leu406Phe)
|
rs1425393733
|
0.00001
|
NM_152419.3(HGSNAT):c.1220C>T (p.Thr407Ile)
|
rs1410211396
|
0.00001
|
NM_152419.3(HGSNAT):c.1231C>A (p.Pro411Thr)
|
rs1804531287
|
0.00001
|
NM_152419.3(HGSNAT):c.1264C>T (p.Pro422Ser)
|
rs538620581
|
0.00001
|
NM_152419.3(HGSNAT):c.1313C>T (p.Ala438Val)
|
rs1016164503
|
0.00001
|
NM_152419.3(HGSNAT):c.1474A>G (p.Ile492Val)
|
rs766052009
|
0.00001
|
NM_152419.3(HGSNAT):c.1492G>C (p.Ala498Pro)
|
rs1433404175
|
0.00001
|
NM_152419.3(HGSNAT):c.1535G>C (p.Cys512Ser)
|
rs762252722
|
0.00001
|
NM_152419.3(HGSNAT):c.1565C>T (p.Thr522Met)
|
rs561701894
|
0.00001
|
NM_152419.3(HGSNAT):c.1591A>C (p.Ile531Leu)
|
rs1804772048
|
0.00001
|
NM_152419.3(HGSNAT):c.1768G>A (p.Glu590Lys)
|
rs1163166400
|
0.00001
|
NM_152419.3(HGSNAT):c.1850C>T (p.Ala617Val)
|
rs776791119
|
0.00001
|
NM_152419.3(HGSNAT):c.185T>C (p.Leu62Pro)
|
rs1304780108
|
0.00001
|
NM_152419.3(HGSNAT):c.1865T>C (p.Ile622Thr)
|
rs1240119393
|
0.00001
|
NM_152419.3(HGSNAT):c.1871A>G (p.Tyr624Cys)
|
rs773631016
|
0.00001
|
NM_152419.3(HGSNAT):c.234C>T (p.His78=)
|
rs760790643
|
0.00001
|
NM_152419.3(HGSNAT):c.322G>A (p.Gly108Arg)
|
rs1427202401
|
0.00001
|
NM_152419.3(HGSNAT):c.326C>A (p.Ser109Tyr)
|
rs768887468
|
0.00001
|
NM_152419.3(HGSNAT):c.338T>C (p.Leu113Pro)
|
rs765211666
|
0.00001
|
NM_152419.3(HGSNAT):c.444A>C (p.Glu148Asp)
|
rs1399122628
|
0.00001
|
NM_152419.3(HGSNAT):c.493+4C>T
|
rs372471081
|
0.00001
|
NM_152419.3(HGSNAT):c.493+5G>A
|
rs781408761
|
0.00001
|
NM_152419.3(HGSNAT):c.533T>G (p.Ile178Ser)
|
rs752128693
|
0.00001
|
NM_152419.3(HGSNAT):c.594A>T (p.Lys198Asn)
|
rs763403091
|
0.00001
|
NM_152419.3(HGSNAT):c.619C>T (p.Arg207Cys)
|
rs199861011
|
0.00001
|
NM_152419.3(HGSNAT):c.659A>G (p.Asp220Gly)
|
rs1803591916
|
0.00001
|
NM_152419.3(HGSNAT):c.664C>T (p.Leu222Phe)
|
rs1358373785
|
0.00001
|
NM_152419.3(HGSNAT):c.688A>G (p.Thr230Ala)
|
rs758464800
|
0.00001
|
NM_152419.3(HGSNAT):c.695G>A (p.Arg232His)
|
rs371869844
|
0.00001
|
NM_152419.3(HGSNAT):c.713C>T (p.Pro238Leu)
|
rs1218261294
|
0.00001
|
NM_152419.3(HGSNAT):c.722G>A (p.Arg241His)
|
rs1231838743
|
0.00001
|
NM_152419.3(HGSNAT):c.762G>A (p.Met254Ile)
|
rs751701983
|
0.00001
|
NM_152419.3(HGSNAT):c.7G>C (p.Gly3Arg)
|
rs1387365931
|
0.00001
|
NM_152419.3(HGSNAT):c.838C>T (p.Leu280Phe)
|
rs1245295975
|
0.00001
|
NM_152419.3(HGSNAT):c.841G>A (p.Val281Met)
|
rs1287447019
|
0.00001
|
NM_152419.3(HGSNAT):c.852G>T (p.Trp284Cys)
|
rs777146364
|
0.00001
|
NM_152419.3(HGSNAT):c.887C>T (p.Ser296Leu)
|
rs372933126
|
0.00001
|
NM_152419.3(HGSNAT):c.89G>C (p.Gly30Ala)
|
rs1490698793
|
0.00001
|
NM_152419.3(HGSNAT):c.940A>G (p.Ile314Val)
|
rs1446334240
|
0.00001
|
NM_152443.3(RDH12):c.283C>T (p.Arg95Trp)
|
rs552516182
|
0.00001
|
NM_152443.3(RDH12):c.748C>T (p.Leu250Phe)
|
rs777424197
|
0.00001
|
NM_152542.5(PPM1K):c.475C>G (p.Leu159Val)
|
rs147734869
|
0.00001
|
NM_152542.5(PPM1K):c.48G>T (p.Gln16His)
|
rs775889692
|
0.00001
|
NM_152542.5(PPM1K):c.542-3T>C
|
rs534271377
|
0.00001
|
NM_152542.5(PPM1K):c.587G>A (p.Arg196Gln)
|
rs1175714323
|
0.00001
|
NM_152542.5(PPM1K):c.601C>G (p.Leu201Val)
|
rs1731442831
|
0.00001
|
NM_152542.5(PPM1K):c.730G>A (p.Val244Ile)
|
rs1014204002
|
0.00001
|
NM_152542.5(PPM1K):c.988-7C>G
|
rs1335866068
|
0.00001
|
NM_152618.3(BBS12):c.1276T>C (p.Cys426Arg)
|
rs771456483
|
0.00001
|
NM_153006.3(NAGS):c.*115G>A
|
rs1215816858
|
0.00001
|
NM_153006.3(NAGS):c.1113C>A (p.Phe371Leu)
|
rs755872617
|
0.00001
|
NM_153006.3(NAGS):c.1204A>C (p.Lys402Gln)
|
rs984226051
|
0.00001
|
NM_153006.3(NAGS):c.1231C>A (p.Leu411Met)
|
rs199923863
|
0.00001
|
NM_153006.3(NAGS):c.1270T>A (p.Tyr424Asn)
|
rs1555620800
|
0.00001
|
NM_153006.3(NAGS):c.1283C>T (p.Ala428Val)
|
rs1160426864
|
0.00001
|
NM_153006.3(NAGS):c.154G>T (p.Ala52Ser)
|
rs1473994582
|
0.00001
|
NM_153006.3(NAGS):c.1597G>A (p.Gly533Ser)
|
rs139304608
|
0.00001
|
NM_153006.3(NAGS):c.251C>T (p.Pro84Leu)
|
rs1381894842
|
0.00001
|
NM_153006.3(NAGS):c.34G>A (p.Ala12Thr)
|
rs759453873
|
0.00001
|
NM_153006.3(NAGS):c.721G>T (p.Val241Leu)
|
rs899402990
|
0.00001
|
NM_172250.3(MMAA):c.*1819C>G
|
rs983321169
|
0.00001
|
NM_172250.3(MMAA):c.*2019A>G
|
rs886059102
|
0.00001
|
NM_172250.3(MMAA):c.*229T>C
|
rs886059092
|
0.00001
|
NM_172250.3(MMAA):c.*2378A>G
|
rs886059104
|
0.00001
|
NM_172250.3(MMAA):c.*2444C>G
|
rs934446234
|
0.00001
|
NM_172250.3(MMAA):c.*2479G>A
|
rs886059107
|
0.00001
|
NM_172250.3(MMAA):c.*2627A>G
|
rs886059109
|
0.00001
|
NM_172250.3(MMAA):c.*353C>A
|
rs1302018790
|
0.00001
|
NM_172250.3(MMAA):c.*4504C>A
|
rs1009787082
|
0.00001
|
NM_172250.3(MMAA):c.*540A>T
|
rs886059094
|
0.00001
|
NM_172250.3(MMAA):c.*67G>A
|
rs886059090
|
0.00001
|
NM_172250.3(MMAA):c.1055G>A (p.Ser352Asn)
|
rs756437003
|
0.00001
|
NM_172250.3(MMAA):c.1099A>G (p.Met367Val)
|
rs754474832
|
0.00001
|
NM_172250.3(MMAA):c.1157G>A (p.Arg386Gln)
|
rs191643294
|
0.00001
|
NM_172250.3(MMAA):c.124C>G (p.Gln42Glu)
|
rs758345818
|
0.00001
|
NM_172250.3(MMAA):c.129G>A (p.Pro43=)
|
rs779779664
|
0.00001
|
NM_172250.3(MMAA):c.304G>A (p.Ala102Thr)
|
rs1328584680
|
0.00001
|
NM_172250.3(MMAA):c.313A>G (p.Ile105Val)
|
rs1284134117
|
0.00001
|
NM_172250.3(MMAA):c.367C>T (p.Leu123Phe)
|
rs965827040
|
0.00001
|
NM_172250.3(MMAA):c.400G>C (p.Glu134Gln)
|
rs369113922
|
0.00001
|
NM_172250.3(MMAA):c.488T>C (p.Phe163Ser)
|
rs753463116
|
0.00001
|
NM_172250.3(MMAA):c.676G>A (p.Glu226Lys)
|
rs1036460255
|
0.00001
|
NM_172250.3(MMAA):c.67T>C (p.Cys23Arg)
|
rs889048711
|
0.00001
|
NM_172250.3(MMAA):c.721A>G (p.Ile241Val)
|
rs756221585
|
0.00001
|
NM_172250.3(MMAA):c.722T>C (p.Ile241Thr)
|
rs371068331
|
0.00001
|
NM_172250.3(MMAA):c.734-7A>G
|
rs753938949
|
0.00001
|
NM_172250.3(MMAA):c.760G>A (p.Ala254Thr)
|
rs769722136
|
0.00001
|
NM_172250.3(MMAA):c.763G>C (p.Asp255His)
|
rs1267434098
|
0.00001
|
NM_172250.3(MMAA):c.824T>C (p.Ile275Thr)
|
rs1204400776
|
0.00001
|
NM_172250.3(MMAA):c.833G>A (p.Gly278Asp)
|
rs761964238
|
0.00001
|
NM_172250.3(MMAA):c.86A>G (p.His29Arg)
|
rs367809749
|
0.00001
|
NM_174878.3(CLRN1):c.406G>A (p.Gly136Arg)
|
rs904836940
|
0.00001
|
NM_177550.5(SLC13A5):c.1002C>A (p.Asp334Glu)
|
rs765942920
|
0.00001
|
NM_177550.5(SLC13A5):c.1033G>T (p.Ala345Ser)
|
rs776529961
|
0.00001
|
NM_177550.5(SLC13A5):c.1066G>A (p.Asp356Asn)
|
rs151050636
|
0.00001
|
NM_177550.5(SLC13A5):c.106G>A (p.Val36Ile)
|
rs1354071715
|
0.00001
|
NM_177550.5(SLC13A5):c.1106T>C (p.Ile369Thr)
|
rs773383980
|
0.00001
|
NM_177550.5(SLC13A5):c.1163A>G (p.Lys388Arg)
|
rs1423476132
|
0.00001
|
NM_177550.5(SLC13A5):c.1166C>T (p.Thr389Ile)
|
rs748877090
|
0.00001
|
NM_177550.5(SLC13A5):c.1286T>G (p.Leu429Arg)
|
rs1231356601
|
0.00001
|
NM_177550.5(SLC13A5):c.1309A>T (p.Met437Leu)
|
rs980479909
|
0.00001
|
NM_177550.5(SLC13A5):c.1336G>C (p.Ala446Pro)
|
rs1399161589
|
0.00001
|
NM_177550.5(SLC13A5):c.134T>C (p.Met45Thr)
|
rs1208101006
|
0.00001
|
NM_177550.5(SLC13A5):c.1396G>A (p.Val466Met)
|
rs750791192
|
0.00001
|
NM_177550.5(SLC13A5):c.1454T>G (p.Leu485Arg)
|
rs148049520
|
0.00001
|
NM_177550.5(SLC13A5):c.1460C>T (p.Pro487Leu)
|
rs779336736
|
0.00001
|
NM_177550.5(SLC13A5):c.1508T>C (p.Met503Thr)
|
rs765088400
|
0.00001
|
NM_177550.5(SLC13A5):c.1514C>T (p.Pro505Leu)
|
rs936922976
|
0.00001
|
NM_177550.5(SLC13A5):c.1540G>A (p.Val514Met)
|
rs201089077
|
0.00001
|
NM_177550.5(SLC13A5):c.1541T>C (p.Val514Ala)
|
rs776701159
|
0.00001
|
NM_177550.5(SLC13A5):c.1575+5C>T
|
rs778223098
|
0.00001
|
NM_177550.5(SLC13A5):c.1646G>A (p.Arg549Gln)
|
rs373799811
|
0.00001
|
NM_177550.5(SLC13A5):c.1691C>T (p.Thr564Ile)
|
rs771551520
|
0.00001
|
NM_177550.5(SLC13A5):c.186G>A (p.Met62Ile)
|
rs144640152
|
0.00001
|
NM_177550.5(SLC13A5):c.208T>C (p.Phe70Leu)
|
rs1458426377
|
0.00001
|
NM_177550.5(SLC13A5):c.264G>A (p.Met88Ile)
|
rs1414544534
|
0.00001
|
NM_177550.5(SLC13A5):c.292G>A (p.Val98Met)
|
rs529524270
|
0.00001
|
NM_177550.5(SLC13A5):c.317A>G (p.His106Arg)
|
rs762062274
|
0.00001
|
NM_177550.5(SLC13A5):c.335G>A (p.Arg112His)
|
rs772720272
|
0.00001
|
NM_177550.5(SLC13A5):c.358A>G (p.Lys120Glu)
|
rs777351597
|
0.00001
|
NM_177550.5(SLC13A5):c.361C>A (p.Pro121Thr)
|
rs368701407
|
0.00001
|
NM_177550.5(SLC13A5):c.468G>T (p.Leu156Phe)
|
rs774491349
|
0.00001
|
NM_177550.5(SLC13A5):c.490G>A (p.Ala164Thr)
|
rs769026137
|
0.00001
|
NM_177550.5(SLC13A5):c.496A>G (p.Thr166Ala)
|
rs1415995914
|
0.00001
|
NM_177550.5(SLC13A5):c.502G>A (p.Ala168Thr)
|
rs1555542943
|
0.00001
|
NM_177550.5(SLC13A5):c.52T>C (p.Phe18Leu)
|
rs1249830087
|
0.00001
|
NM_177550.5(SLC13A5):c.547+6C>T
|
rs372687638
|
0.00001
|
NM_177550.5(SLC13A5):c.569G>A (p.Gly190Asp)
|
rs766313348
|
0.00001
|
NM_177550.5(SLC13A5):c.581G>A (p.Gly194Glu)
|
rs772459786
|
0.00001
|
NM_177550.5(SLC13A5):c.618_626dup (p.Ala207_Thr209dup)
|
rs1490001751
|
0.00001
|
NM_177550.5(SLC13A5):c.650G>A (p.Ser217Asn)
|
rs1200030293
|
0.00001
|
NM_177550.5(SLC13A5):c.674C>T (p.Thr225Ile)
|
rs182042247
|
0.00001
|
NM_177550.5(SLC13A5):c.689A>G (p.Asn230Ser)
|
rs760650951
|
0.00001
|
NM_177550.5(SLC13A5):c.691G>A (p.Val231Met)
|
rs759705331
|
0.00001
|
NM_177550.5(SLC13A5):c.712A>G (p.Asn238Asp)
|
rs747576233
|
0.00001
|
NM_177550.5(SLC13A5):c.742G>A (p.Val248Met)
|
rs1295906896
|
0.00001
|
NM_177550.5(SLC13A5):c.901G>A (p.Val301Met)
|
rs1973547380
|
0.00001
|
NM_177550.5(SLC13A5):c.944C>T (p.Ala315Val)
|
rs138841868
|
0.00001
|
NM_177550.5(SLC13A5):c.955G>A (p.Val319Met)
|
rs199612064
|
0.00001
|
NM_177550.5(SLC13A5):c.970T>C (p.Phe324Leu)
|
rs146116408
|
0.00001
|
NM_177550.5(SLC13A5):c.991T>A (p.Phe331Ile)
|
rs142301014
|
0.00001
|
NM_177965.4(CFAP418):c.*1057C>T
|
rs151180356
|
0.00001
|
NM_177965.4(CFAP418):c.*2129A>G
|
rs897834152
|
0.00001
|
NM_177965.4(CFAP418):c.134C>G (p.Ala45Gly)
|
rs1197547920
|
0.00001
|
NM_177965.4(CFAP418):c.394T>C (p.Cys132Arg)
|
rs1050414071
|
0.00001
|
NM_177965.4(CFAP418):c.414G>A (p.Leu138=)
|
rs150592488
|
0.00001
|
NM_177965.4(CFAP418):c.556A>G (p.Arg186Gly)
|
rs1483148451
|
0.00001
|
NM_177965.4(CFAP418):c.65T>C (p.Leu22Pro)
|
rs767780150
|
0.00001
|
NM_178857.6(RP1L1):c.202C>T (p.Leu68Phe)
|
rs902459185
|
0.00001
|
NM_178857.6(RP1L1):c.2720C>T (p.Ala907Val)
|
rs758561870
|
0.00001
|
NM_178857.6(RP1L1):c.3203G>A (p.Cys1068Tyr)
|
rs775897747
|
0.00001
|
NM_183050.4(BCKDHB):c.*896A>G
|
rs886061811
|
0.00001
|
NM_183050.4(BCKDHB):c.1025G>C (p.Ser342Thr)
|
rs759040971
|
0.00001
|
NM_183050.4(BCKDHB):c.1031C>T (p.Thr344Ile)
|
rs761138547
|
0.00001
|
NM_183050.4(BCKDHB):c.1057C>G (p.Leu353Val)
|
rs398124563
|
0.00001
|
NM_183050.4(BCKDHB):c.1067C>T (p.Pro356Leu)
|
rs1304667430
|
0.00001
|
NM_183050.4(BCKDHB):c.1132G>A (p.Asp378Asn)
|
rs970365846
|
0.00001
|
NM_183050.4(BCKDHB):c.1159C>T (p.Arg387Ter)
|
rs751599203
|
0.00001
|
NM_183050.4(BCKDHB):c.115G>A (p.Ala39Thr)
|
rs914935376
|
0.00001
|
NM_183050.4(BCKDHB):c.119C>T (p.Ala40Val)
|
rs752892659
|
0.00001
|
NM_183050.4(BCKDHB):c.245A>G (p.Asp82Gly)
|
rs150769284
|
0.00001
|
NM_183050.4(BCKDHB):c.24C>T (p.Ala8=)
|
rs558448066
|
0.00001
|
NM_183050.4(BCKDHB):c.263A>T (p.Asp88Val)
|
rs374253889
|
0.00001
|
NM_183050.4(BCKDHB):c.26G>C (p.Gly9Ala)
|
rs780722473
|
0.00001
|
NM_183050.4(BCKDHB):c.302G>A (p.Gly101Asp)
|
rs398124571
|
0.00001
|
NM_183050.4(BCKDHB):c.365C>T (p.Thr122Ile)
|
rs398124575
|
0.00001
|
NM_183050.4(BCKDHB):c.479T>G (p.Ile160Ser)
|
rs398124576
|
0.00001
|
NM_183050.4(BCKDHB):c.506A>G (p.Tyr169Cys)
|
rs398124580
|
0.00001
|
NM_183050.4(BCKDHB):c.529T>C (p.Cys177Arg)
|
rs398124583
|
0.00001
|
NM_183050.4(BCKDHB):c.587A>T (p.His196Leu)
|
rs398124585
|
0.00001
|
NM_183050.4(BCKDHB):c.854G>A (p.Arg285Gln)
|
rs761827220
|
0.00001
|
NM_183050.4(BCKDHB):c.858G>A (p.Glu286=)
|
rs765019762
|
0.00001
|
NM_183050.4(BCKDHB):c.866C>T (p.Ser289Phe)
|
rs762438504
|
0.00001
|
NM_183050.4(BCKDHB):c.895T>A (p.Cys299Ser)
|
rs370331553
|
0.00001
|
NM_201253.3(CRB1):c.*158G>T
|
rs886045789
|
0.00001
|
NM_201253.3(CRB1):c.*171C>G
|
rs1036503792
|
0.00001
|
NM_201253.3(CRB1):c.-55C>T
|
rs965921500
|
0.00001
|
NM_201253.3(CRB1):c.1026A>C (p.Glu342Asp)
|
rs144798709
|
0.00001
|
NM_201253.3(CRB1):c.1040C>T (p.Pro347Leu)
|
rs765500601
|
0.00001
|
NM_201253.3(CRB1):c.1086A>T (p.Gln362His)
|
rs1022182632
|
0.00001
|
NM_201253.3(CRB1):c.1152C>G (p.Ile384Met)
|
rs781656059
|
0.00001
|
NM_201253.3(CRB1):c.1172-12A>G
|
rs146175509
|
0.00001
|
NM_201253.3(CRB1):c.1172-3C>G
|
rs937310739
|
0.00001
|
NM_201253.3(CRB1):c.127T>C (p.Ser43Pro)
|
rs1254919944
|
0.00001
|
NM_201253.3(CRB1):c.1463T>C (p.Phe488Ser)
|
rs777377174
|
0.00001
|
NM_201253.3(CRB1):c.1493G>C (p.Ser498Thr)
|
rs992770731
|
0.00001
|
NM_201253.3(CRB1):c.1496G>T (p.Gly499Val)
|
rs1283508348
|
0.00001
|
NM_201253.3(CRB1):c.14A>G (p.Asn5Ser)
|
rs139427846
|
0.00001
|
NM_201253.3(CRB1):c.1507A>G (p.Thr503Ala)
|
rs375590765
|
0.00001
|
NM_201253.3(CRB1):c.1636A>G (p.Ile546Val)
|
rs745464770
|
0.00001
|
NM_201253.3(CRB1):c.1660G>T (p.Val554Leu)
|
rs772386716
|
0.00001
|
NM_201253.3(CRB1):c.1732G>C (p.Val578Leu)
|
rs769859765
|
0.00001
|
NM_201253.3(CRB1):c.1752C>T (p.Asp584=)
|
rs750442312
|
0.00001
|
NM_201253.3(CRB1):c.1844G>A (p.Gly615Asp)
|
rs768905244
|
0.00001
|
NM_201253.3(CRB1):c.1862C>T (p.Thr621Ile)
|
rs1450290360
|
0.00001
|
NM_201253.3(CRB1):c.1883T>C (p.Leu628Pro)
|
rs749411741
|
0.00001
|
NM_201253.3(CRB1):c.1892A>G (p.Tyr631Cys)
|
rs1271816211
|
0.00001
|
NM_201253.3(CRB1):c.1909C>T (p.Pro637Ser)
|
rs1457623741
|
0.00001
|
NM_201253.3(CRB1):c.1933G>T (p.Asp645Tyr)
|
rs1218091828
|
0.00001
|
NM_201253.3(CRB1):c.1976C>T (p.Ser659Leu)
|
rs986645649
|
0.00001
|
NM_201253.3(CRB1):c.2195G>C (p.Ser732Thr)
|
rs757381371
|
0.00001
|
NM_201253.3(CRB1):c.2303A>G (p.Glu768Gly)
|
rs771264436
|
0.00001
|
NM_201253.3(CRB1):c.2330C>T (p.Pro777Leu)
|
rs886045784
|
0.00001
|
NM_201253.3(CRB1):c.2377G>A (p.Val793Ile)
|
rs528781963
|
0.00001
|
NM_201253.3(CRB1):c.2404C>T (p.Pro802Ser)
|
rs767723282
|
0.00001
|
NM_201253.3(CRB1):c.2636T>C (p.Val879Ala)
|
rs772386967
|
0.00001
|
NM_201253.3(CRB1):c.265C>T (p.Pro89Ser)
|
rs145525029
|
0.00001
|
NM_201253.3(CRB1):c.2677-343G>A
|
rs760861776
|
0.00001
|
NM_201253.3(CRB1):c.2713C>T (p.Arg905Trp)
|
rs749366098
|
0.00001
|
NM_201253.3(CRB1):c.276G>C (p.Arg92Ser)
|
rs751678963
|
0.00001
|
NM_201253.3(CRB1):c.2821C>A (p.Pro941Thr)
|
rs374914600
|
0.00001
|
NM_201253.3(CRB1):c.2833G>A (p.Gly945Arg)
|
rs749746650
|
0.00001
|
NM_201253.3(CRB1):c.2889C>A (p.Phe963Leu)
|
rs905306614
|
0.00001
|
NM_201253.3(CRB1):c.2983G>A (p.Glu995Lys)
|
rs62635655
|
0.00001
|
NM_201253.3(CRB1):c.3001A>G (p.Ile1001Val)
|
rs1179276987
|
0.00001
|
NM_201253.3(CRB1):c.3103C>T (p.His1035Tyr)
|
rs752329622
|
0.00001
|
NM_201253.3(CRB1):c.3149G>A (p.Arg1050Lys)
|
rs1482942636
|
0.00001
|
NM_201253.3(CRB1):c.3250G>A (p.Asp1084Asn)
|
rs769059111
|
0.00001
|
NM_201253.3(CRB1):c.3317A>G (p.Tyr1106Cys)
|
rs115649214
|
0.00001
|
NM_201253.3(CRB1):c.3375T>A (p.Phe1125Leu)
|
rs1226422852
|
0.00001
|
NM_201253.3(CRB1):c.3386C>T (p.Ser1129Phe)
|
rs763011436
|
0.00001
|
NM_201253.3(CRB1):c.3440C>T (p.Pro1147Leu)
|
rs1034421454
|
0.00001
|
NM_201253.3(CRB1):c.3620C>A (p.Thr1207Asn)
|
rs1334175594
|
0.00001
|
NM_201253.3(CRB1):c.3637G>C (p.Val1213Leu)
|
rs759022743
|
0.00001
|
NM_201253.3(CRB1):c.3727A>C (p.Asn1243His)
|
rs746774206
|
0.00001
|
NM_201253.3(CRB1):c.3739A>G (p.Lys1247Glu)
|
rs1222907981
|
0.00001
|
NM_201253.3(CRB1):c.3936C>G (p.Cys1312Trp)
|
rs1665481687
|
0.00001
|
NM_201253.3(CRB1):c.3949A>C (p.Asn1317His)
|
rs62636281
|
0.00001
|
NM_201253.3(CRB1):c.4000G>A (p.Val1334Met)
|
rs754862028
|
0.00001
|
NM_201253.3(CRB1):c.4001T>C (p.Val1334Ala)
|
rs778684885
|
0.00001
|
NM_201253.3(CRB1):c.4006-10A>G
|
rs766850702
|
0.00001
|
NM_201253.3(CRB1):c.4027G>A (p.Asp1343Asn)
|
rs771181041
|
0.00001
|
NM_201253.3(CRB1):c.4043T>C (p.Ile1348Thr)
|
rs774187022
|
0.00001
|
NM_201253.3(CRB1):c.411T>C (p.Pro137=)
|
rs1009098995
|
0.00001
|
NM_201253.3(CRB1):c.4G>A (p.Ala2Thr)
|
rs1203732030
|
0.00001
|
NM_201253.3(CRB1):c.547T>C (p.Cys183Arg)
|
rs1658691162
|
0.00001
|
NM_201253.3(CRB1):c.559G>A (p.Val187Met)
|
rs774621951
|
0.00001
|
NM_201253.3(CRB1):c.601T>C (p.Cys201Arg)
|
rs762835866
|
0.00001
|
NM_201253.3(CRB1):c.635G>T (p.Cys212Phe)
|
rs1658699227
|
0.00001
|
NM_201253.3(CRB1):c.639C>G (p.Pro213=)
|
rs1208641510
|
0.00001
|
NM_201253.3(CRB1):c.65T>A (p.Ile22Lys)
|
rs762741389
|
0.00001
|
NM_201253.3(CRB1):c.707G>A (p.Gly236Asp)
|
rs778322895
|
0.00001
|
NM_201253.3(CRB1):c.713C>A (p.Thr238Asn)
|
rs1452822430
|
0.00001
|
NM_201253.3(CRB1):c.745G>A (p.Asp249Asn)
|
rs1461964160
|
0.00001
|
NM_201253.3(CRB1):c.892T>C (p.Cys298Arg)
|
rs1412048468
|
0.00001
|
NM_201253.3(CRB1):c.914G>C (p.Cys305Ser)
|
rs911156007
|
0.00001
|
NM_201253.3(CRB1):c.976C>T (p.His326Tyr)
|
rs773386179
|
0.00001
|
NM_201548.5(CERKL):c.*1216G>A
|
rs886055313
|
0.00001
|
NM_201548.5(CERKL):c.*452G>A
|
rs201131211
|
0.00001
|
NM_201548.5(CERKL):c.*92G>C
|
rs886055317
|
0.00001
|
NM_201548.5(CERKL):c.-23C>A
|
rs755065546
|
0.00001
|
NM_201548.5(CERKL):c.1034G>A (p.Arg345Gln)
|
rs727503856
|
0.00001
|
NM_201548.5(CERKL):c.1192C>G (p.Gln398Glu)
|
rs144793035
|
0.00001
|
NM_201548.5(CERKL):c.1219A>C (p.Ile407Leu)
|
rs747024040
|
0.00001
|
NM_201548.5(CERKL):c.1268G>A (p.Arg423Lys)
|
rs755105366
|
0.00001
|
NM_201548.5(CERKL):c.1291C>G (p.Leu431Val)
|
rs34150300
|
0.00001
|
NM_201548.5(CERKL):c.1303C>T (p.Arg435Ter)
|
rs1187839124
|
0.00001
|
NM_201548.5(CERKL):c.1445C>T (p.Pro482Leu)
|
rs1459300740
|
0.00001
|
NM_201548.5(CERKL):c.1454A>G (p.Glu485Gly)
|
rs369866192
|
0.00001
|
NM_201548.5(CERKL):c.1498G>A (p.Asp500Asn)
|
rs771072583
|
0.00001
|
NM_201548.5(CERKL):c.1548A>C (p.Pro516=)
|
rs1687294615
|
0.00001
|
NM_201548.5(CERKL):c.17G>T (p.Arg6Leu)
|
rs758592149
|
0.00001
|
NM_201548.5(CERKL):c.251A>T (p.Tyr84Phe)
|
rs758960994
|
0.00001
|
NM_201548.5(CERKL):c.356G>A (p.Gly119Asp)
|
rs1003615909
|
0.00001
|
NM_201548.5(CERKL):c.365T>G (p.Leu122Arg)
|
rs558913945
|
0.00001
|
NM_201548.5(CERKL):c.553G>C (p.Val185Leu)
|
rs146698457
|
0.00001
|
NM_201548.5(CERKL):c.613+4_613+5del
|
rs766131721
|
0.00001
|
NM_201548.5(CERKL):c.677+613C>T
|
rs199691281
|
0.00001
|
NM_201548.5(CERKL):c.820+10T>C
|
rs777113677
|
0.00001
|
NM_201548.5(CERKL):c.848T>C (p.Leu283Pro)
|
rs772798578
|
0.00001
|
NM_205861.3(DHDDS):c.*1343C>T
|
rs571845250
|
0.00001
|
NM_205861.3(DHDDS):c.*210C>T
|
rs1389894701
|
0.00001
|
NM_205861.3(DHDDS):c.*312C>T
|
rs1057515469
|
0.00001
|
NM_205861.3(DHDDS):c.*986T>A
|
rs1057515472
|
0.00001
|
NM_205861.3(DHDDS):c.139C>T (p.Arg47Trp)
|
rs750366746
|
0.00001
|
NM_205861.3(DHDDS):c.22G>C (p.Glu8Gln)
|
rs1415428953
|
0.00001
|
NM_205861.3(DHDDS):c.274G>A (p.Gly92Arg)
|
rs766371067
|
0.00001
|
NM_205861.3(DHDDS):c.293G>A (p.Arg98Gln)
|
rs752459219
|
0.00001
|
NM_205861.3(DHDDS):c.323A>G (p.Lys108Arg)
|
rs2075232541
|
0.00001
|
NM_205861.3(DHDDS):c.324-4T>G
|
rs747118618
|
0.00001
|
NM_205861.3(DHDDS):c.339G>C (p.Lys113Asn)
|
rs144046776
|
0.00001
|
NM_205861.3(DHDDS):c.366C>T (p.Gly122=)
|
rs774001400
|
0.00001
|
NM_205861.3(DHDDS):c.425C>T (p.Thr142Met)
|
rs758751596
|
0.00001
|
NM_205861.3(DHDDS):c.440A>G (p.Lys147Arg)
|
rs201280820
|
0.00001
|
NM_205861.3(DHDDS):c.468C>T (p.Tyr156=)
|
rs768075911
|
0.00001
|
NM_205861.3(DHDDS):c.491A>G (p.Asn164Ser)
|
rs1429544868
|
0.00001
|
NM_205861.3(DHDDS):c.53A>G (p.Asn18Ser)
|
rs922422245
|
0.00001
|
NM_205861.3(DHDDS):c.57C>T (p.Ile19=)
|
rs981419090
|
0.00001
|
NM_205861.3(DHDDS):c.587G>A (p.Arg196His)
|
rs912516570
|
0.00001
|
NM_205861.3(DHDDS):c.681C>G (p.Phe227Leu)
|
rs773292741
|
0.00001
|
NM_205861.3(DHDDS):c.691C>G (p.Leu231Val)
|
rs372352032
|
0.00001
|
NM_205861.3(DHDDS):c.706A>T (p.Thr236Ser)
|
rs763763588
|
0.00001
|
NM_205861.3(DHDDS):c.724G>A (p.Glu242Lys)
|
rs1229969030
|
0.00001
|
NM_205861.3(DHDDS):c.733C>G (p.Leu245Val)
|
rs1305856826
|
0.00001
|
NM_205861.3(DHDDS):c.794G>A (p.Arg265Gln)
|
rs771106680
|
0.00001
|
NM_205861.3(DHDDS):c.892C>T (p.Arg298Cys)
|
rs919843886
|
0.00001
|
NM_205861.3(DHDDS):c.904C>T (p.Leu302Phe)
|
rs779438727
|
0.00001
|
NM_205861.3(DHDDS):c.917G>A (p.Arg306Gln)
|
rs543487813
|
0.00001
|
NM_205861.3(DHDDS):c.987C>T (p.Gly329=)
|
rs1381026387
|
0.00001
|
NM_206933.4(USH2A):c.-204-15G>A
|
rs1162064882
|
0.00001
|
NM_206933.4(USH2A):c.10010G>T (p.Cys3337Phe)
|
rs770756678
|
0.00001
|
NM_206933.4(USH2A):c.10058C>T (p.Pro3353Leu)
|
rs755020832
|
0.00001
|
NM_206933.4(USH2A):c.10064C>T (p.Pro3355Leu)
|
rs1253788950
|
0.00001
|
NM_206933.4(USH2A):c.10151C>A (p.Ser3384Tyr)
|
rs553202000
|
0.00001
|
NM_206933.4(USH2A):c.10182+5T>C
|
rs1049628868
|
0.00001
|
NM_206933.4(USH2A):c.10373C>T (p.Thr3458Met)
|
rs149485593
|
0.00001
|
NM_206933.4(USH2A):c.1040A>G (p.Asp347Gly)
|
rs762384558
|
0.00001
|
NM_206933.4(USH2A):c.10421A>G (p.Tyr3474Cys)
|
rs749121941
|
0.00001
|
NM_206933.4(USH2A):c.10423A>G (p.Arg3475Gly)
|
rs141098637
|
0.00001
|
NM_206933.4(USH2A):c.10559A>G (p.Asn3520Ser)
|
rs777043718
|
0.00001
|
NM_206933.4(USH2A):c.10834G>A (p.Val3612Ile)
|
rs763125604
|
0.00001
|
NM_206933.4(USH2A):c.10859T>C (p.Ile3620Thr)
|
rs779716464
|
0.00001
|
NM_206933.4(USH2A):c.10933G>A (p.Val3645Ile)
|
rs397517970
|
0.00001
|
NM_206933.4(USH2A):c.11089A>G (p.Thr3697Ala)
|
rs765454203
|
0.00001
|
NM_206933.4(USH2A):c.11206G>A (p.Asp3736Asn)
|
rs1373104511
|
0.00001
|
NM_206933.4(USH2A):c.11263G>C (p.Gly3755Arg)
|
rs397517971
|
0.00001
|
NM_206933.4(USH2A):c.11299A>T (p.Thr3767Ser)
|
rs1289393326
|
0.00001
|
NM_206933.4(USH2A):c.11350A>C (p.Ile3784Leu)
|
rs1660884865
|
0.00001
|
NM_206933.4(USH2A):c.11740G>A (p.Val3914Ile)
|
rs1401744202
|
0.00001
|
NM_206933.4(USH2A):c.11822G>A (p.Arg3941Gln)
|
rs727504582
|
0.00001
|
NM_206933.4(USH2A):c.11887G>A (p.Ala3963Thr)
|
rs541566194
|
0.00001
|
NM_206933.4(USH2A):c.11956A>G (p.Thr3986Ala)
|
rs727505322
|
0.00001
|
NM_206933.4(USH2A):c.12092A>G (p.Tyr4031Cys)
|
rs772969352
|
0.00001
|
NM_206933.4(USH2A):c.12316G>A (p.Gly4106Arg)
|
rs1174206381
|
0.00001
|
NM_206933.4(USH2A):c.12359G>A (p.Arg4120His)
|
rs188008529
|
0.00001
|
NM_206933.4(USH2A):c.12362G>A (p.Arg4121His)
|
rs397517980
|
0.00001
|
NM_206933.4(USH2A):c.12415G>C (p.Gly4139Arg)
|
rs138866017
|
0.00001
|
NM_206933.4(USH2A):c.12455A>G (p.Glu4152Gly)
|
rs768614804
|
0.00001
|
NM_206933.4(USH2A):c.12458C>T (p.Ala4153Val)
|
rs779875423
|
0.00001
|
NM_206933.4(USH2A):c.12559C>T (p.Arg4187Cys)
|
rs760177550
|
0.00001
|
NM_206933.4(USH2A):c.12560G>A (p.Arg4187His)
|
rs147304271
|
0.00001
|
NM_206933.4(USH2A):c.12580T>C (p.Cys4194Arg)
|
rs769001387
|
0.00001
|
NM_206933.4(USH2A):c.12581G>A (p.Cys4194Tyr)
|
rs955434291
|
0.00001
|
NM_206933.4(USH2A):c.12962A>G (p.Glu4321Gly)
|
rs936692193
|
0.00001
|
NM_206933.4(USH2A):c.12967C>T (p.Leu4323Phe)
|
rs750512832
|
0.00001
|
NM_206933.4(USH2A):c.12997C>G (p.Leu4333Val)
|
rs770620234
|
0.00001
|
NM_206933.4(USH2A):c.13422C>G (p.Ile4474Met)
|
rs1453273341
|
0.00001
|
NM_206933.4(USH2A):c.13441A>G (p.Arg4481Gly)
|
rs878853406
|
0.00001
|
NM_206933.4(USH2A):c.13483C>T (p.Arg4495Cys)
|
rs746221227
|
0.00001
|
NM_206933.4(USH2A):c.13514A>G (p.Tyr4505Cys)
|
rs1268140508
|
0.00001
|
NM_206933.4(USH2A):c.13664C>T (p.Pro4555Leu)
|
rs772415448
|
0.00001
|
NM_206933.4(USH2A):c.13684A>G (p.Ile4562Val)
|
rs1427845684
|
0.00001
|
NM_206933.4(USH2A):c.13778C>T (p.Ser4593Leu)
|
rs1202573136
|
0.00001
|
NM_206933.4(USH2A):c.13802C>T (p.Pro4601Leu)
|
rs1176215017
|
0.00001
|
NM_206933.4(USH2A):c.1397G>T (p.Gly466Val)
|
rs1553250627
|
0.00001
|
NM_206933.4(USH2A):c.14017T>C (p.Tyr4673His)
|
rs1040917329
|
0.00001
|
NM_206933.4(USH2A):c.14108T>C (p.Leu4703Ser)
|
rs369513607
|
0.00001
|
NM_206933.4(USH2A):c.14153C>A (p.Ala4718Glu)
|
rs201631375
|
0.00001
|
NM_206933.4(USH2A):c.14194C>T (p.Pro4732Ser)
|
rs55838724
|
0.00001
|
NM_206933.4(USH2A):c.14328T>G (p.His4776Gln)
|
rs1220949681
|
0.00001
|
NM_206933.4(USH2A):c.14384T>G (p.Leu4795Arg)
|
rs199851839
|
0.00001
|
NM_206933.4(USH2A):c.14405C>T (p.Ser4802Phe)
|
rs775307880
|
0.00001
|
NM_206933.4(USH2A):c.14542C>T (p.Arg4848Trp)
|
rs757728612
|
0.00001
|
NM_206933.4(USH2A):c.1481A>G (p.Tyr494Cys)
|
rs898430789
|
0.00001
|
NM_206933.4(USH2A):c.14832G>T (p.Leu4944Phe)
|
rs556415914
|
0.00001
|
NM_206933.4(USH2A):c.14914C>T (p.Arg4972Cys)
|
rs766759858
|
0.00001
|
NM_206933.4(USH2A):c.14986A>T (p.Ile4996Phe)
|
rs41308423
|
0.00001
|
NM_206933.4(USH2A):c.15038C>T (p.Thr5013Ile)
|
rs397517996
|
0.00001
|
NM_206933.4(USH2A):c.15095G>A (p.Ser5032Asn)
|
rs374144657
|
0.00001
|
NM_206933.4(USH2A):c.15169A>T (p.Ile5057Phe)
|
rs542341955
|
0.00001
|
NM_206933.4(USH2A):c.15188T>C (p.Leu5063Pro)
|
rs376816523
|
0.00001
|
NM_206933.4(USH2A):c.15233C>G (p.Pro5078Arg)
|
rs527236122
|
0.00001
|
NM_206933.4(USH2A):c.15346C>T (p.Arg5116Cys)
|
rs759899869
|
0.00001
|
NM_206933.4(USH2A):c.1541T>C (p.Ile514Thr)
|
rs768813865
|
0.00001
|
NM_206933.4(USH2A):c.1550G>C (p.Arg517Thr)
|
rs1393503590
|
0.00001
|
NM_206933.4(USH2A):c.15577G>T (p.Glu5193Ter)
|
rs1365989569
|
0.00001
|
NM_206933.4(USH2A):c.15580C>T (p.Arg5194Cys)
|
rs751811618
|
0.00001
|
NM_206933.4(USH2A):c.1678C>G (p.Pro560Ala)
|
rs147509797
|
0.00001
|
NM_206933.4(USH2A):c.1840+4A>G
|
rs749288291
|
0.00001
|
NM_206933.4(USH2A):c.1900G>T (p.Ala634Ser)
|
rs759589036
|
0.00001
|
NM_206933.4(USH2A):c.1954A>G (p.Ser652Gly)
|
rs397518005
|
0.00001
|
NM_206933.4(USH2A):c.1972-4C>T
|
rs772294505
|
0.00001
|
NM_206933.4(USH2A):c.2031G>T (p.Gln677His)
|
rs753305011
|
0.00001
|
NM_206933.4(USH2A):c.206G>T (p.Ser69Ile)
|
rs377254440
|
0.00001
|
NM_206933.4(USH2A):c.2139C>T (p.Gly713=)
|
rs765293412
|
0.00001
|
NM_206933.4(USH2A):c.2167+4C>T
|
rs200638562
|
0.00001
|
NM_206933.4(USH2A):c.2279A>G (p.Asn760Ser)
|
rs776095235
|
0.00001
|
NM_206933.4(USH2A):c.232T>G (p.Phe78Val)
|
rs775094277
|
0.00001
|
NM_206933.4(USH2A):c.2479A>C (p.Asn827His)
|
rs876658114
|
0.00001
|
NM_206933.4(USH2A):c.2617G>A (p.Gly873Arg)
|
rs1037325220
|
0.00001
|
NM_206933.4(USH2A):c.2642A>C (p.Gln881Pro)
|
rs769767476
|
0.00001
|
NM_206933.4(USH2A):c.2761C>A (p.Leu921Met)
|
rs772211390
|
0.00001
|
NM_206933.4(USH2A):c.2776C>T (p.Arg926Cys)
|
rs749621457
|
0.00001
|
NM_206933.4(USH2A):c.2972G>A (p.Gly991Glu)
|
rs779811357
|
0.00001
|
NM_206933.4(USH2A):c.3068G>A (p.Cys1023Tyr)
|
rs1391032458
|
0.00001
|
NM_206933.4(USH2A):c.3176C>T (p.Pro1059Leu)
|
rs547581739
|
0.00001
|
NM_206933.4(USH2A):c.3310C>A (p.Pro1104Thr)
|
rs751890894
|
0.00001
|
NM_206933.4(USH2A):c.3405G>C (p.Arg1135Ser)
|
rs372843685
|
0.00001
|
NM_206933.4(USH2A):c.3489C>T (p.Asp1163=)
|
rs139156019
|
0.00001
|
NM_206933.4(USH2A):c.3493G>C (p.Val1165Leu)
|
rs727503734
|
0.00001
|
NM_206933.4(USH2A):c.3649G>A (p.Asp1217Asn)
|
rs202247801
|
0.00001
|
NM_206933.4(USH2A):c.3664G>A (p.Ala1222Thr)
|
rs761752531
|
0.00001
|
NM_206933.4(USH2A):c.3713C>T (p.Thr1238Ile)
|
rs768461447
|
0.00001
|
NM_206933.4(USH2A):c.3899G>A (p.Ser1300Asn)
|
rs772408328
|
0.00001
|
NM_206933.4(USH2A):c.3914C>T (p.Pro1305Leu)
|
rs780574336
|
0.00001
|
NM_206933.4(USH2A):c.3938A>G (p.Asn1313Ser)
|
rs145459379
|
0.00001
|
NM_206933.4(USH2A):c.3969G>A (p.Met1323Ile)
|
rs886045953
|
0.00001
|
NM_206933.4(USH2A):c.4070C>T (p.Thr1357Met)
|
rs201190539
|
0.00001
|
NM_206933.4(USH2A):c.4124C>T (p.Ser1375Leu)
|
rs751479180
|
0.00001
|
NM_206933.4(USH2A):c.419C>A (p.Pro140His)
|
rs759474177
|
0.00001
|
NM_206933.4(USH2A):c.4280T>C (p.Leu1427Pro)
|
rs373130157
|
0.00001
|
NM_206933.4(USH2A):c.4314G>T (p.Arg1438Ser)
|
rs776039417
|
0.00001
|
NM_206933.4(USH2A):c.4366G>A (p.Ala1456Thr)
|
rs886045950
|
0.00001
|
NM_206933.4(USH2A):c.4370C>T (p.Ser1457Leu)
|
rs2034688425
|
0.00001
|
NM_206933.4(USH2A):c.4378G>A (p.Gly1460Arg)
|
rs139311927
|
0.00001
|
NM_206933.4(USH2A):c.4384A>C (p.Thr1462Pro)
|
rs757315203
|
0.00001
|
NM_206933.4(USH2A):c.4436A>T (p.Asn1479Ile)
|
rs961580455
|
0.00001
|
NM_206933.4(USH2A):c.4490C>T (p.Ser1497Phe)
|
rs755482100
|
0.00001
|
NM_206933.4(USH2A):c.4544C>T (p.Thr1515Met)
|
rs373599651
|
0.00001
|
NM_206933.4(USH2A):c.4679C>A (p.Ala1560Glu)
|
rs1388648004
|
0.00001
|
NM_206933.4(USH2A):c.4733G>A (p.Arg1578His)
|
rs552928943
|
0.00001
|
NM_206933.4(USH2A):c.4810G>A (p.Asp1604Asn)
|
rs775241651
|
0.00001
|
NM_206933.4(USH2A):c.4837A>G (p.Ile1613Val)
|
rs397518017
|
0.00001
|
NM_206933.4(USH2A):c.5003G>T (p.Gly1668Val)
|
rs1265349835
|
0.00001
|
NM_206933.4(USH2A):c.5041A>G (p.Asn1681Asp)
|
rs746010533
|
0.00001
|
NM_206933.4(USH2A):c.5059A>C (p.Ile1687Leu)
|
rs144213699
|
0.00001
|
NM_206933.4(USH2A):c.5111A>T (p.Asn1704Ile)
|
rs764080143
|
0.00001
|
NM_206933.4(USH2A):c.5189A>G (p.Tyr1730Cys)
|
rs375519871
|
0.00001
|
NM_206933.4(USH2A):c.5375G>A (p.Gly1792Glu)
|
rs527598451
|
0.00001
|
NM_206933.4(USH2A):c.538T>C (p.Ser180Pro)
|
rs1171672823
|
0.00001
|
NM_206933.4(USH2A):c.5438_5443del (p.Ser1813_Ser1815delinsCys)
|
rs752992414
|
0.00001
|
NM_206933.4(USH2A):c.5443A>G (p.Ser1815Gly)
|
rs940913250
|
0.00001
|
NM_206933.4(USH2A):c.5598T>C (p.Val1866=)
|
rs771810761
|
0.00001
|
NM_206933.4(USH2A):c.5752G>A (p.Glu1918Lys)
|
rs529355834
|
0.00001
|
NM_206933.4(USH2A):c.5858-12A>G
|
rs727503727
|
0.00001
|
NM_206933.4(USH2A):c.5953G>A (p.Glu1985Lys)
|
rs150143291
|
0.00001
|
NM_206933.4(USH2A):c.5992C>T (p.Arg1998Cys)
|
rs777886737
|
0.00001
|
NM_206933.4(USH2A):c.6050G>A (p.Gly2017Asp)
|
rs397518024
|
0.00001
|
NM_206933.4(USH2A):c.6325G>A (p.Asp2109Asn)
|
rs759545289
|
0.00001
|
NM_206933.4(USH2A):c.6431A>C (p.Glu2144Ala)
|
rs754703964
|
0.00001
|
NM_206933.4(USH2A):c.6492A>C (p.Lys2164Asn)
|
rs727503724
|
0.00001
|
NM_206933.4(USH2A):c.651G>T (p.Gln217His)
|
rs758696021
|
0.00001
|
NM_206933.4(USH2A):c.6589A>G (p.Thr2197Ala)
|
rs887441664
|
0.00001
|
NM_206933.4(USH2A):c.6667G>A (p.Gly2223Ser)
|
rs1047559421
|
0.00001
|
NM_206933.4(USH2A):c.6668G>A (p.Gly2223Asp)
|
rs755612537
|
0.00001
|
NM_206933.4(USH2A):c.6709G>T (p.Asp2237Tyr)
|
rs1177455978
|
0.00001
|
NM_206933.4(USH2A):c.6712G>A (p.Glu2238Lys)
|
rs774634733
|
0.00001
|
NM_206933.4(USH2A):c.6751T>A (p.Ser2251Thr)
|
rs750302027
|
0.00001
|
NM_206933.4(USH2A):c.6806-3C>T
|
rs775703386
|
0.00001
|
NM_206933.4(USH2A):c.6854A>G (p.Asn2285Ser)
|
rs528089082
|
0.00001
|
NM_206933.4(USH2A):c.6889G>T (p.Ala2297Ser)
|
rs150634036
|
0.00001
|
NM_206933.4(USH2A):c.6908C>T (p.Ser2303Phe)
|
rs766809837
|
0.00001
|
NM_206933.4(USH2A):c.6926G>T (p.Cys2309Phe)
|
rs748983904
|
0.00001
|
NM_206933.4(USH2A):c.6958-8A>T
|
rs769264662
|
0.00001
|
NM_206933.4(USH2A):c.6968G>A (p.Arg2323Gln)
|
rs772014718
|
0.00001
|
NM_206933.4(USH2A):c.6988G>A (p.Glu2330Lys)
|
rs926377709
|
0.00001
|
NM_206933.4(USH2A):c.7039G>A (p.Val2347Met)
|
rs727503721
|
0.00001
|
NM_206933.4(USH2A):c.7051G>A (p.Ala2351Thr)
|
rs886042178
|
0.00001
|
NM_206933.4(USH2A):c.7105T>G (p.Phe2369Val)
|
rs1475753019
|
0.00001
|
NM_206933.4(USH2A):c.7156G>T (p.Val2386Phe)
|
rs199825458
|
0.00001
|
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe)
|
rs41315579
|
0.00001
|
NM_206933.4(USH2A):c.7387G>A (p.Ala2463Thr)
|
rs374569301
|
0.00001
|
NM_206933.4(USH2A):c.7412T>A (p.Leu2471His)
|
rs1290644032
|
0.00001
|
NM_206933.4(USH2A):c.7436C>T (p.Thr2479Ile)
|
rs876658115
|
0.00001
|
NM_206933.4(USH2A):c.7844A>G (p.Gln2615Arg)
|
rs397518032
|
0.00001
|
NM_206933.4(USH2A):c.8009C>G (p.Thr2670Ser)
|
rs758382005
|
0.00001
|
NM_206933.4(USH2A):c.8021C>A (p.Thr2674Asn)
|
rs754677752
|
0.00001
|
NM_206933.4(USH2A):c.8120G>A (p.Gly2707Glu)
|
rs397518034
|
0.00001
|
NM_206933.4(USH2A):c.8168G>A (p.Arg2723Gln)
|
rs267598376
|
0.00001
|
NM_206933.4(USH2A):c.8177G>A (p.Gly2726Glu)
|
rs549796389
|
0.00001
|
NM_206933.4(USH2A):c.8200G>A (p.Val2734Met)
|
rs397518035
|
0.00001
|
NM_206933.4(USH2A):c.8212G>A (p.Asp2738Asn)
|
rs750687826
|
0.00001
|
NM_206933.4(USH2A):c.82A>G (p.Ile28Val)
|
rs753515909
|
0.00001
|
NM_206933.4(USH2A):c.8392G>A (p.Gly2798Arg)
|
rs397518037
|
0.00001
|
NM_206933.4(USH2A):c.8730T>A (p.Phe2910Leu)
|
rs373811292
|
0.00001
|
NM_206933.4(USH2A):c.8842C>T (p.Pro2948Ser)
|
rs142315587
|
0.00001
|
NM_206933.4(USH2A):c.8851C>G (p.Gln2951Glu)
|
rs201394390
|
0.00001
|
NM_206933.4(USH2A):c.8884C>A (p.Leu2962Ile)
|
rs761359720
|
0.00001
|
NM_206933.4(USH2A):c.8993C>G (p.Ser2998Cys)
|
rs559922535
|
0.00001
|
NM_206933.4(USH2A):c.9071T>A (p.Leu3024His)
|
rs111033456
|
0.00001
|
NM_206933.4(USH2A):c.9095A>G (p.Asn3032Ser)
|
rs768579751
|
0.00001
|
NM_206933.4(USH2A):c.9109C>T (p.Arg3037Cys)
|
rs770418427
|
0.00001
|
NM_206933.4(USH2A):c.9156G>C (p.Glu3052Asp)
|
rs766298464
|
0.00001
|
NM_206933.4(USH2A):c.9259G>A (p.Val3087Ile)
|
rs200382994
|
0.00001
|
NM_206933.4(USH2A):c.9346C>A (p.Pro3116Thr)
|
rs140260219
|
0.00001
|
NM_206933.4(USH2A):c.9433C>T (p.Leu3145Phe)
|
rs267598373
|
0.00001
|
NM_206933.4(USH2A):c.9565G>T (p.Ala3189Ser)
|
rs752996514
|
0.00001
|
NM_206933.4(USH2A):c.9655A>G (p.Thr3219Ala)
|
rs776395355
|
0.00001
|
NM_206933.4(USH2A):c.9815C>T (p.Pro3272Leu)
|
rs764182950
|
0.00001
|
NM_206933.4(USH2A):c.9820T>A (p.Ser3274Thr)
|
rs1236116000
|
0.00001
|
NM_206933.4(USH2A):c.9851G>A (p.Gly3284Glu)
|
rs1043013730
|
0.00001
|
NM_206933.4(USH2A):c.9862G>C (p.Asp3288His)
|
rs1334903455
|
0.00001
|
NM_206933.4(USH2A):c.9884G>T (p.Cys3295Phe)
|
rs1662221668
|
0.00001
|
NM_206933.4(USH2A):c.9906C>T (p.Asn3302=)
|
rs757439664
|
0.00001
|
NM_206933.4(USH2A):c.9967T>G (p.Cys3323Gly)
|
rs766658893
|
0.00001
|
NM_206933.4(USH2A):c.9974G>A (p.Gly3325Glu)
|
rs1378786390
|
0.00001
|
NM_206933.4(USH2A):c.9982T>A (p.Tyr3328Asn)
|
rs1558099268
|
0.00001
|
NM_212552.3(BOLA3):c.*31T>C
|
rs886056326
|
0.00001
|
NM_212552.3(BOLA3):c.19G>A (p.Ala7Thr)
|
rs565294723
|
0.00001
|
NM_212552.3(BOLA3):c.76T>C (p.Phe26Leu)
|
rs965127002
|
0.00001
|
GRCh38/hg38 16q21(chr16:57904875-57923272)x3
|
|
|
GRCh38/hg38 16q23.1(chr16:78330637-78461650)x0
|
|
|
GRCh38/hg38 19q13.32-13.33(chr19:47257435-47886413)x1
|
|
|
GRCh38/hg38 19q13.33(chr19:47794370-47886413)x1
|
|
|
GRCh38/hg38 19q13.33(chr19:47834312-47840923)x1
|
|
|
GRCh38/hg38 19q13.42(chr19:54109954-54115802)x1
|
|
|
NC_000001.10:g.(?_100316599)_(101709564_?)dup
|
|
|
NC_000001.10:g.(?_120277237)_(120278086_?)del
|
|
|
NC_000001.10:g.(?_120277237)_(120529725_?)dup
|
|
|
NC_000001.10:g.(?_19199319)_(19204126_?)dup
|
|
|
NC_000001.10:g.(?_19199339)_(22987879_?)dup
|
|
|
NC_000001.10:g.(?_19199339)_(24690861_?)dup
|
|
|
NC_000001.10:g.(?_197237543)_(197237632_?)dup
|
|
|
NC_000001.10:g.(?_197297532)_(197326163_?)dup
|
|
|
NC_000001.10:g.(?_197297532)_(197447009_?)dup
|
|
|
NC_000001.10:g.(?_197390110)_(197398764_?)dup
|
|
|
NC_000001.10:g.(?_228194830)_(228566496_?)dup
|
|
|
NC_000001.10:g.(?_236959004)_(237060944_?)dup
|
|
|
NC_000001.10:g.(?_237060286)_(237060944_?)dup
|
|
|
NC_000001.10:g.(?_25870190)_(27278871_?)dup
|
|
|
NC_000001.10:g.(?_45966005)_(45977106_?)dup
|
|
|
NC_000001.10:g.(?_68895459)_(68915588_?)dup
|
|
|
NC_000001.10:g.(?_68914307)_(68919076_?)dup
|
|
|
NC_000001.10:g.(?_76190473)_(76228448_?)dup
|
|
|
NC_000001.10:g.(?_76205645)_(76228448_?)dup
|
|
|
NC_000001.11:g.(?_45507336)_(45509235_?)dup
|
|
|
NC_000002.11:g.(?_211421458)_(211542709_?)dup
|
|
|
NC_000002.11:g.(?_211503854)_(211503959_?)del
|
|
|
NC_000002.11:g.(?_26414119)_(26418121_?)dup
|
|
|
NC_000002.11:g.(?_27667299)_(27677547_?)dup
|
|
|
NC_000002.11:g.(?_27670372)_(27670799_?)dup
|
|
|
NC_000002.11:g.(?_27688258)_(27688405_?)del
|
|
|
NC_000002.11:g.(?_27712462)_(27726506_?)dup
|
|
|
NC_000002.11:g.(?_71337100)_(71357349_?)dup
|
|
|
NC_000002.12:g.(?_210658579)_(210678005_?)del
|
|
|
NC_000002.12:g.190246209_190246214del
|
rs1686603593
|
|
NC_000003.11:g.(?_11058898)_(11078652_?)dup
|
|
|
NC_000003.11:g.(?_11075305)_(11078652_?)dup
|
|
|
NC_000003.11:g.(?_135969218)_(135969420_?)dup
|
|
|
NC_000003.11:g.(?_135969218)_(136048868_?)dup
|
|
|
NC_000003.11:g.(?_15643358)_(15643421_?)dup
|
|
|
NC_000003.11:g.(?_15643358)_(15687154_?)dup
|
|
|
NC_000003.11:g.(?_182733226)_(182817228_?)dup
|
|
|
NC_000003.11:g.(?_48936103)_(48936227_?)dup
|
|
|
NC_000003.11:g.(?_49394821)_(49459947_?)dup
|
|
|
NC_000003.11:g.(?_49456384)_(49459947_?)dup
|
|
|
NC_000003.11:g.(?_97439105)_(97510809_?)dup
|
|
|
NC_000003.11:g.(?_97486952)_(97487094_?)dup
|
|
|
NC_000003.11:g.(?_97486952)_(97510690_?)dup
|
|
|
NC_000003.11:g.(?_97486952)_(97516893_?)dup
|
|
|
NC_000003.12:g.(?_11025429)_(11036986_?)dup
|
|
|
NC_000004.11:g.(?_108816710)_(108955513_?)dup
|
|
|
NC_000004.11:g.(?_108911069)_(108955533_?)dup
|
|
|
NC_000004.11:g.(?_159593609)_(159616815_?)dup
|
|
|
NC_000004.11:g.(?_159593609)_(159629679_?)dup
|
|
|
NC_000004.11:g.(?_17488754)_(17513677_?)dup
|
|
|
NC_000004.11:g.(?_17513553)_(17513677_?)dup
|
|
|
NC_000004.11:g.(?_38765721)_(41750627_?)dup
|
|
|
NC_000004.11:g.(?_39459814)_(39528725_?)dup
|
|
|
NC_000004.11:g.(?_39460510)_(39460802_?)dup
|
|
|
NC_000004.11:g.(?_39460718)_(39478755_?)dup
|
|
|
NC_000004.11:g.(?_39460738)_(39478735_?)dup
|
|
|
NC_000004.12:g.(?_88262575)_(88278603_?)del
|
|
|
NC_000005.9:g.(?_131726362)_(131729964_?)dup
|
|
|
NC_000005.9:g.(?_70808992)_(70952687_?)dup
|
|
|
NC_000005.9:g.(?_7870908)_(7900171_?)dup
|
|
|
NC_000005.9:g.(?_7895827)_(7900171_?)dup
|
|
|
NC_000006.11:g.(?_131894423)_(131903875_?)dup
|
|
|
NC_000006.11:g.(?_131894423)_(132211651_?)dup
|
|
|
NC_000006.11:g.(?_131902339)_(131905048_?)dup
|
|
|
NC_000006.11:g.(?_24278257)_(24533940_?)dup
|
|
|
NC_000006.11:g.(?_24495225)_(24523163_?)dup
|
|
|
NC_000006.11:g.(?_24495225)_(24523173_?)dup
|
|
|
NC_000006.11:g.(?_49407899)_(49427199_?)dup
|
|
|
NC_000006.11:g.(?_70386050)_(70490466_?)dup
|
|
|
NC_000006.11:g.(?_70490366)_(70506773_?)dup
|
|
|
NC_000006.11:g.(?_80877375)_(80881127_?)dup
|
|
|
NC_000007.13:g.(?_56079455)_(56082884_?)del
|
|
|
NC_000007.13:g.(?_56079455)_(56085092_?)del
|
|
|
NC_000007.13:g.(?_56079455)_(56085092_?)dup
|
|
|
NC_000007.13:g.(?_56079455)_(56174106_?)del
|
|
|
NC_000007.13:g.(?_56079455)_(56174106_?)dup
|
|
|
NC_000007.13:g.(?_65541069)_(65557899_?)dup
|
|
|
NC_000007.13:g.(?_65546770)_(65557899_?)dup
|
|
|
NC_000007.13:g.(?_65551562)_(65557909_?)dup
|
|
|
NC_000007.13:g.(?_95906488)_(95951268_?)dup
|
|
|
NC_000007.14:g.(?_66076062)_(66092932_?)dup
|
|
|
NC_000007.14:g.(?_66086565)_(66092932_?)dup
|
|
|
NC_000007.14:g.(?_96121171)_(96321976_?)dup
|
|
|
NC_000008.10:g.(?_42958672)_(43054732_?)dup
|
|
|
NC_000008.10:g.(?_42958692)_(43016670_?)dup
|
|
|
NC_000008.10:g.(?_42958692)_(43054712_?)dup
|
|
|
NC_000008.10:g.(?_43002091)_(43159912_?)dup
|
|
|
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NC_000010.10:g.(?_12162161)_(12162887_?)del
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NC_000019.10:g.39480831G>A
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NC_000022.11:g.40345472C>T
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rs1437272102
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rs2044103206
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NC_000022.11:g.40345560T>C
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rs2044103495
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NC_000022.11:g.40345563C>T
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rs1014469698
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NC_000022.11:g.40345566G>T
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rs2146607321
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NC_000022.11:g.40345571T>G
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NC_000022.11:g.40345573T>C
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NC_000022.11:g.40345588_40345589insAAAAAAAAGG
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NC_000022.11:g.40345588_40345589insAGG
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NC_000022.11:g.40345590G>A
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rs897965743
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NC_000022.11:g.40345592G>A
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NC_000022.11:g.40345594G>C
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NC_000022.11:g.40345596G>A
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NC_000022.11:g.40345597G>T
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rs1470349903
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NC_000022.11:g.40345600A>G
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NC_000022.11:g.40345601C>G
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rs2146607753
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NC_000022.11:g.40345606G>A
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NC_000022.11:g.40345621TTTA[2]
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NC_000022.11:g.40345631T>C
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rs2146607888
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rs1206371108
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rs952409371
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rs113688962
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NC_000022.11:g.40345658T>A
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NC_000022.11:g.40345663CT[1]
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NC_000022.11:g.40345670G>T
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NC_000022.11:g.40345676G>A
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rs1018543619
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NC_000022.11:g.40345676G>C
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NC_000022.11:g.40345683T>G
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rs2146608173
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rs866097692
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NC_000022.11:g.40345694G>A
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NC_000022.11:g.40345697C>T
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rs547176744
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rs2146608197
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NC_000022.11:g.40345709C>G
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NC_000022.11:g.40345723C>A
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NC_000022.11:g.40345726G>A
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NC_000022.11:g.40345742T>A
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rs557264711
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rs1165283078
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NC_000022.11:g.40345805T>C
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rs2146608408
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rs2146608473
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NC_000022.11:g.40345822G>A
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NC_000022.11:g.40345827C>T
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NC_000022.11:g.40345830G>C
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rs927256177
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NC_000022.11:g.40345847C>G
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NC_000022.11:g.40345856C>T
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NC_000022.11:g.40345860G>A
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NC_000022.11:g.40345873G>A
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NC_000022.11:g.40345873G>C
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rs146387429
|
|
NC_000022.11:g.40345877G>A
|
|
|
NC_000022.11:g.40345887C>T
|
rs897153956
|
|
NC_000022.11:g.40345895G>A
|
|
|
NC_000022.11:g.40345898_40345911del
|
|
|
NC_000022.11:g.40345905C>T
|
rs1051195380
|
|
NC_000022.11:g.40345910G>A
|
|
|
NC_000022.11:g.40345917A>C
|
|
|
NC_000022.11:g.40345924C>T
|
|
|
NC_000022.11:g.40345926G>A
|
|
|
NC_000022.11:g.40345930C>T
|
|
|
NC_000022.11:g.40345931A>G
|
rs2146609004
|
|
NC_000022.11:g.40345952G>T
|
rs2044120214
|
|
NC_000022.11:g.40345954T>C
|
|
|
NC_000022.11:g.40345968C>G
|
rs742139
|
|
NC_000022.11:g.40345969_40345970del
|
rs2146609166
|
|
NC_000022.11:g.40345971C>T
|
rs1040260159
|
|
NC_000022.11:g.40345978C>G
|
|
|
NC_000022.11:g.40345982A>C
|
|
|
NC_000022.11:g.40345987C>A
|
|
|
NC_000022.11:g.40345993C>T
|
rs2146609240
|
|
NC_000022.11:g.40345994G>A
|
|
|
NC_000022.11:g.40345998C>A
|
|
|
NC_000022.11:g.40345999G>C
|
rs2146609261
|
|
NC_000022.11:g.40346011A>G
|
|
|
NC_000022.11:g.40346016G>A
|
rs1421868511
|
|
NC_000022.11:g.40346019G>A
|
rs1024075575
|
|
NC_000022.11:g.40346019G>T
|
|
|
NC_000022.11:g.40346027G>A
|
|
|
NC_000022.11:g.40346032_40346033del
|
rs1359178555
|
|
NC_000022.11:g.40346037dup
|
|
|
NC_000022.11:g.40346039dup
|
rs1396866470
|
|
NC_000022.11:g.40346049T>C
|
rs562792922
|
|
NC_000022.11:g.40346052A>C
|
|
|
NC_000022.11:g.40346058C>A
|
rs79742008
|
|
NC_000022.11:g.40346065_40346067del
|
rs2146609595
|
|
NC_000022.11:g.40346083C>G
|
|
|
NC_000022.11:g.40346089C>T
|
rs2146609641
|
|
NC_000022.11:g.40346116C>A
|
rs77895579
|
|
NC_000022.11:g.40346117C>T
|
|
|
NC_000022.11:g.40346117_40346119del
|
|
|
NC_000022.11:g.40346117_40346120del
|
|
|
NC_000022.11:g.40346135T>G
|
|
|
NC_000022.11:g.40346147T>C
|
|
|
NC_000022.11:g.40346158C>T
|
rs2146610168
|
|
NC_000022.11:g.40346158del
|
rs528311466
|
|
NC_000022.11:g.40346161G>C
|
|
|
NC_000022.11:g.40346165G>T
|
rs909204
|
|
NC_000022.11:g.40346180C>G
|
|
|
NC_000022.11:g.40346188G>T
|
|
|
NC_000022.11:g.40346189T>G
|
rs2146610277
|
|
NC_000022.11:g.40346200C>T
|
|
|
NC_000022.11:g.40346222C>T
|
|
|
NC_000022.11:g.40346230C>G
|
rs2044131436
|
|
NC_000022.11:g.40346236G>A
|
|
|
NC_000022.11:g.40346243G>A
|
|
|
NC_000022.11:g.40346245T>C
|
|
|
NC_000022.11:g.40346275G>A
|
|
|
NC_000022.11:g.40346276G>A
|
rs540176537
|
|
NC_000022.11:g.40346283_40346292del
|
|
|
NC_000022.11:g.40346287G>A
|
|
|
NC_000022.11:g.40346289A>G
|
rs1601541349
|
|
NC_000022.11:g.40346304G>A
|
|
|
NC_000022.11:g.40346313A>C
|
rs2146610598
|
|
NC_000022.11:g.40346324G>A
|
rs1000950960
|
|
NC_000022.11:g.40346329A>C
|
rs2146610651
|
|
NC_000022.11:g.40346339G>A
|
rs2146610710
|
|
NC_000022.11:g.40346350C>T
|
|
|
NC_000022.11:g.40346357C>A
|
rs2146610771
|
|
NC_000022.11:g.40346358T>C
|
rs2146610772
|
|
NC_000022.11:g.40346371G>T
|
rs777987980
|
|
NC_000022.11:g.40346374C>G
|
rs1024378498
|
|
NC_000022.11:g.40346377A>T
|
rs749450413
|
|
NC_000022.11:g.40346385C>A
|
|
|
NC_000022.11:g.40346389G>A
|
|
|
NC_000022.11:g.40346390G>A
|
|
|
NC_000022.11:g.40346398A>G
|
|
|
NC_000022.11:g.40346402G>A
|
rs181976442
|
|
NC_000022.11:g.40346402G>C
|
rs181976442
|
|
NC_000022.11:g.40346406T>C
|
|
|
NC_000022.11:g.40346409T>C
|
rs2146611034
|
|
NC_000022.11:g.40346418G>T
|
|
|
NC_000022.11:g.40346420C>T
|
|
|
NC_000022.11:g.40346422G>C
|
rs2146611167
|
|
NC_000022.11:g.40346424G>A
|
rs186550906
|
|
NC_000022.11:g.40346424G>T
|
|
|
NC_000022.11:g.40346427C>G
|
rs2044138563
|
|
NC_000022.11:g.40346432C>A
|
rs190560535
|
|
NC_000022.11:g.40346432C>G
|
rs190560535
|
|
NC_000022.11:g.40346433G>A
|
rs1284184707
|
|
NC_000022.11:g.40346434C>T
|
|
|
NC_000022.11:g.40346436C>T
|
|
|
NC_000022.11:g.40346438G>C
|
rs1286138763
|
|
NC_000022.11:g.40346450C>T
|
|
|
NC_000022.11:g.40346453G>C
|
|
|
NC_000022.11:g.40346456C>A
|
rs533768359
|
|
NC_000022.11:g.40346457G>A
|
|
|
NC_000022.11:g.40346465G>A
|
|
|
NC_000022.11:g.40346472C>T
|
|
|
NC_000022.11:g.40346473G>C
|
|
|
NC_000022.11:g.40346474C>A
|
rs2146611525
|
|
NC_000022.11:g.40346477_40346491dup
|
|
|
NC_000022.11:g.40346482C>T
|
|
|
NC_000022.11:g.40346482_40346491dup
|
rs2146611569
|
|
NC_000022.11:g.40346483G>A
|
rs892749175
|
|
NC_000022.11:g.40346484_40346493del
|
rs2146611602
|
|
NC_000022.11:g.40346488G>A
|
rs2146611643
|
|
NC_000022.11:g.40346489C>T
|
rs949660803
|
|
NC_000022.11:g.40346491del
|
|
|
NC_000022.11:g.40346492T>G
|
|
|
NC_000023.10:g.(?_128674417)_(128679034_?)dup
|
|
|
NC_000023.10:g.(?_128674417)_(128975921_?)dup
|
|
|
NC_000023.10:g.(?_128682520)_(128724247_?)dup
|
|
|
NC_000023.10:g.(?_152770090)_(152954311_?)dup
|
|
|
NC_000023.10:g.(?_152954010)_(153141311_?)dup
|
|
|
NC_000023.10:g.(?_152954010)_(153599633_?)dup
|
|
|
NC_000023.10:g.(?_152958897)_(152969569_?)dup
|
|
|
NC_000023.10:g.(?_153195397)_(153583460_?)dup
|
|
|
NC_000023.10:g.(?_153640161)_(153649363_?)dup
|
|
|
NC_000023.10:g.(?_153640181)_(153775961_?)dup
|
|
|
NC_000023.10:g.(?_153641545)_(153648084_?)dup
|
|
|
NC_000023.10:g.(?_153647862)_(153649343_?)dup
|
|
|
NC_000023.10:g.(?_37639262)_(38212036_?)dup
|
|
|
NC_000023.10:g.(?_38128879)_(38280335_?)dup
|
|
|
NC_000023.11:g.(?_38352331)_(38352793_?)dup
|
|
|
NM_000016.5(ACADM):c.-169C>T
|
rs886046522
|
|
NM_000016.5(ACADM):c.-342G>T
|
rs886046520
|
|
NM_000016.5(ACADM):c.-375C>T
|
rs886046519
|
|
NM_000016.6(ACADM):c.*177G>C
|
rs1311764448
|
|
NM_000016.6(ACADM):c.*284C>T
|
rs886046525
|
|
NM_000016.6(ACADM):c.*427T>A
|
rs551943304
|
|
NM_000016.6(ACADM):c.*5delA
|
|
|
NM_000016.6(ACADM):c.*63dup
|
rs1400150313
|
|
NM_000016.6(ACADM):c.*825del
|
rs199923099
|
|
NM_000016.6(ACADM):c.-78G>C
|
rs908019570
|
|
NM_000016.6(ACADM):c.1007G>A (p.Ser336Asn)
|
rs794727013
|
|
NM_000016.6(ACADM):c.1012C>G (p.Gln338Glu)
|
rs796051896
|
|
NM_000016.6(ACADM):c.101G>T (p.Gly34Val)
|
|
|
NM_000016.6(ACADM):c.1021G>A (p.Ala341Thr)
|
rs1424545377
|
|
NM_000016.6(ACADM):c.1034A>T (p.Asp345Val)
|
rs771978135
|
|
NM_000016.6(ACADM):c.1043G>A (p.Arg348His)
|
|
|
NM_000016.6(ACADM):c.1046G>T (p.Arg349Leu)
|
rs760335676
|
|
NM_000016.6(ACADM):c.1057T>G (p.Tyr353Asp)
|
rs875989856
|
|
NM_000016.6(ACADM):c.1070C>G (p.Ala357Gly)
|
|
|
NM_000016.6(ACADM):c.1073A>T (p.Lys358Met)
|
rs988752772
|
|
NM_000016.6(ACADM):c.1075G>C (p.Ala359Pro)
|
rs1224909875
|
|
NM_000016.6(ACADM):c.1087G>A (p.Asp363Asn)
|
rs875989866
|
|
NM_000016.6(ACADM):c.10G>A (p.Gly4Arg)
|
|
|
NM_000016.6(ACADM):c.1103T>C (p.Leu368Ser)
|
rs2100453501
|
|
NM_000016.6(ACADM):c.1117G>C (p.Val373Leu)
|
|
|
NM_000016.6(ACADM):c.1159G>C (p.Val387Leu)
|
rs1057518630
|
|
NM_000016.6(ACADM):c.1165A>G (p.Lys389Glu)
|
rs1648844304
|
|
NM_000016.6(ACADM):c.1184A>C (p.Lys395Thr)
|
rs776312173
|
|
NM_000016.6(ACADM):c.1184A>G (p.Lys395Arg)
|
rs776312173
|
|
NM_000016.6(ACADM):c.119-12A>G
|
|
|
NM_000016.6(ACADM):c.1194+6G>A
|
|
|
NM_000016.6(ACADM):c.1197T>G (p.Ile399Met)
|
|
|
NM_000016.6(ACADM):c.11G>T (p.Gly4Val)
|
|
|
NM_000016.6(ACADM):c.1205G>T (p.Gly402Val)
|
rs1553127382
|
|
NM_000016.6(ACADM):c.120G>C (p.Glu40Asp)
|
|
|
NM_000016.6(ACADM):c.1211C>T (p.Ser404Leu)
|
|
|
NM_000016.6(ACADM):c.1217T>G (p.Ile406Ser)
|
|
|
NM_000016.6(ACADM):c.1249_1251del (p.Asp417del)
|
rs1553127399
|
|
NM_000016.6(ACADM):c.1264T>G (p.Ter422Glu)
|
rs1553127400
|
|
NM_000016.6(ACADM):c.139G>A (p.Glu47Lys)
|
rs2100362559
|
|
NM_000016.6(ACADM):c.154_156del (p.Ala52del)
|
rs2100362599
|
|
NM_000016.6(ACADM):c.15C>A (p.Phe5Leu)
|
rs1024056446
|
|
NM_000016.6(ACADM):c.160A>C (p.Lys54Gln)
|
|
|
NM_000016.6(ACADM):c.177A>C (p.Glu59Asp)
|
rs1057520214
|
|
NM_000016.6(ACADM):c.17G>A (p.Gly6Glu)
|
|
|
NM_000016.6(ACADM):c.202G>A (p.Asp68Asn)
|
rs2100362891
|
|
NM_000016.6(ACADM):c.206A>G (p.Lys69Arg)
|
rs927784210
|
|
NM_000016.6(ACADM):c.212G>A (p.Gly71Asp)
|
rs1553122943
|
|
NM_000016.6(ACADM):c.235AGA[1] (p.Arg80del)
|
rs1553122972
|
|
NM_000016.6(ACADM):c.241G>A (p.Ala81Thr)
|
rs1448376709
|
|
NM_000016.6(ACADM):c.262A>T (p.Asn88Tyr)
|
rs1647171392
|
|
NM_000016.6(ACADM):c.265A>C (p.Thr89Pro)
|
rs371194356
|
|
NM_000016.6(ACADM):c.286+6C>T
|
|
|
NM_000016.6(ACADM):c.289G>A (p.Gly97Ser)
|
rs1553123053
|
|
NM_000016.6(ACADM):c.295G>A (p.Gly99Arg)
|
rs875989858
|
|
NM_000016.6(ACADM):c.30+5G>C
|
|
|
NM_000016.6(ACADM):c.302G>A (p.Gly101Glu)
|
rs875989862
|
|
NM_000016.6(ACADM):c.307T>C (p.Phe103Leu)
|
|
|
NM_000016.6(ACADM):c.31-12T>G
|
|
|
NM_000016.6(ACADM):c.31-13G>A
|
|
|
NM_000016.6(ACADM):c.31-5T>A
|
|
|
NM_000016.6(ACADM):c.327T>A (p.Ser109Arg)
|
rs1647188135
|
|
NM_000016.6(ACADM):c.32T>C (p.Val11Ala)
|
|
|
NM_000016.6(ACADM):c.346T>G (p.Cys116Gly)
|
rs875989863
|
|
NM_000016.6(ACADM):c.351_352delinsCA (p.Gly118Arg)
|
rs1553123069
|
|
NM_000016.6(ACADM):c.352G>T (p.Gly118Trp)
|
|
|
NM_000016.6(ACADM):c.353G>C (p.Gly118Ala)
|
rs1647188699
|
|
NM_000016.6(ACADM):c.356T>A (p.Val119Asp)
|
rs1553123077
|
|
NM_000016.6(ACADM):c.371A>G (p.Glu124Gly)
|
rs759305231
|
|
NM_000016.6(ACADM):c.379T>C (p.Ser127Pro)
|
rs1647189185
|
|
NM_000016.6(ACADM):c.380C>A (p.Ser127Tyr)
|
|
|
NM_000016.6(ACADM):c.382T>G (p.Leu128Val)
|
|
|
NM_000016.6(ACADM):c.385G>T (p.Gly129Trp)
|
rs886042076
|
|
NM_000016.6(ACADM):c.387+2dup
|
rs1553123086
|
|
NM_000016.6(ACADM):c.388-19T>A
|
rs1553123252
|
|
NM_000016.6(ACADM):c.404T>C (p.Ile135Thr)
|
|
|
NM_000016.6(ACADM):c.455A>G (p.Glu152Gly)
|
|
|
NM_000016.6(ACADM):c.461T>G (p.Leu154Trp)
|
rs1553123263
|
|
NM_000016.6(ACADM):c.468+11G>A
|
|
|
NM_000016.6(ACADM):c.468+3G>T
|
|
|
NM_000016.6(ACADM):c.468T>G (p.Cys156Trp)
|
rs1647214213
|
|
NM_000016.6(ACADM):c.473A>G (p.Tyr158Cys)
|
rs1553123858
|
|
NM_000016.6(ACADM):c.494C>T (p.Ala165Val)
|
rs1260394550
|
|
NM_000016.6(ACADM):c.509C>A (p.Ala170Asp)
|
|
|
NM_000016.6(ACADM):c.510_527del (p.Gly171_Ala176del)
|
rs1553123864
|
|
NM_000016.6(ACADM):c.526G>T (p.Ala176Ser)
|
rs200754053
|
|
NM_000016.6(ACADM):c.532A>C (p.Lys178Gln)
|
|
|
NM_000016.6(ACADM):c.536_568del (p.Lys179_Lys189del)
|
rs1553123869
|
|
NM_000016.6(ACADM):c.539_541del (p.Gly180del)
|
rs776120077
|
|
NM_000016.6(ACADM):c.542A>G (p.Asp181Gly)
|
rs1553123872
|
|
NM_000016.6(ACADM):c.564G>A (p.Gln188=)
|
rs1647481720
|
|
NM_000016.6(ACADM):c.576A>G (p.Ile192Met)
|
rs1647482271
|
|
NM_000016.6(ACADM):c.592G>A (p.Ala198Thr)
|
rs1647485086
|
|
NM_000016.6(ACADM):c.595A>G (p.Asn199Asp)
|
rs1468901075
|
|
NM_000016.6(ACADM):c.598T>C (p.Trp200Arg)
|
|
|
NM_000016.6(ACADM):c.602A>G (p.Tyr201Cys)
|
rs875989871
|
|
NM_000016.6(ACADM):c.622G>T (p.Asp208Tyr)
|
rs983879715
|
|
NM_000016.6(ACADM):c.624T>C (p.Asp208=)
|
rs886046523
|
|
NM_000016.6(ACADM):c.625C>G (p.Pro209Ala)
|
rs765741682
|
|
NM_000016.6(ACADM):c.640C>G (p.Pro214Ala)
|
rs1040699870
|
|
NM_000016.6(ACADM):c.643G>C (p.Ala215Pro)
|
|
|
NM_000016.6(ACADM):c.653C>A (p.Ala218Asp)
|
|
|
NM_000016.6(ACADM):c.656T>G (p.Phe219Cys)
|
rs2100408210
|
|
NM_000016.6(ACADM):c.694C>G (p.Gln232Glu)
|
rs2100408490
|
|
NM_000016.6(ACADM):c.708+3A>G
|
rs2100408597
|
|
NM_000016.6(ACADM):c.708+6G>A
|
rs958629659
|
|
NM_000016.6(ACADM):c.708+6G>T
|
rs958629659
|
|
NM_000016.6(ACADM):c.719T>C (p.Met240Thr)
|
|
|
NM_000016.6(ACADM):c.71A>G (p.His24Arg)
|
|
|
NM_000016.6(ACADM):c.725A>G (p.Gln242Arg)
|
|
|
NM_000016.6(ACADM):c.746G>A (p.Gly249Glu)
|
rs1648077584
|
|
NM_000016.6(ACADM):c.751G>A (p.Val251Ile)
|
|
|
NM_000016.6(ACADM):c.755T>G (p.Phe252Cys)
|
rs780510026
|
|
NM_000016.6(ACADM):c.76_78dup (p.Lys26dup)
|
rs760137614
|
|
NM_000016.6(ACADM):c.773C>T (p.Pro258Leu)
|
rs1022879056
|
|
NM_000016.6(ACADM):c.775A>G (p.Lys259Glu)
|
|
|
NM_000016.6(ACADM):c.77A>C (p.Lys26Thr)
|
rs2100347143
|
|
NM_000016.6(ACADM):c.785T>A (p.Val262Asp)
|
rs1489192992
|
|
NM_000016.6(ACADM):c.806G>A (p.Gly269Asp)
|
|
|
NM_000016.6(ACADM):c.813A>C (p.Lys271Asn)
|
|
|
NM_000016.6(ACADM):c.839C>G (p.Thr280Ser)
|
|
|
NM_000016.6(ACADM):c.83A>G (p.Asn28Ser)
|
|
|
NM_000016.6(ACADM):c.850-3_850-2insTAAAAT
|
rs1553125391
|
|
NM_000016.6(ACADM):c.850-8_850-7insTATCTTAAAATACTTAA
|
rs1553125389
|
|
NM_000016.6(ACADM):c.863_865dup (p.Ala288_Val289insAla)
|
|
|
NM_000016.6(ACADM):c.865G>T (p.Val289Phe)
|
rs1648137997
|
|
NM_000016.6(ACADM):c.866T>C (p.Val289Ala)
|
rs1057520215
|
|
NM_000016.6(ACADM):c.87A>G (p.Arg29=)
|
rs2100347177
|
|
NM_000016.6(ACADM):c.881_882delinsTT (p.Arg294Ile)
|
|
|
NM_000016.6(ACADM):c.891T>A (p.Asp297Glu)
|
|
|
NM_000016.6(ACADM):c.893_898del (p.Glu298_Thr300delinsAla)
|
|
|
NM_000016.6(ACADM):c.907G>A (p.Ala303Thr)
|
rs875989855
|
|
NM_000016.6(ACADM):c.927C>G (p.Phe309Leu)
|
rs771550655
|
|
NM_000016.6(ACADM):c.946-2dup
|
rs1648822448
|
|
NM_000016.6(ACADM):c.946-6T>G
|
rs765793260
|
|
NM_000016.6(ACADM):c.947A>T (p.His316Leu)
|
|
|
NM_000016.6(ACADM):c.955A>G (p.Ile319Val)
|
|
|
NM_000016.6(ACADM):c.98C>G (p.Pro33Arg)
|
|
|
NM_000017.2(ACADS):c.*573G>C
|
rs17848081
|
|
NM_000017.4(ACADS):c.*162C>T
|
rs1273364186
|
|
NM_000017.4(ACADS):c.*174G>C
|
rs886049032
|
|
NM_000017.4(ACADS):c.*235C>T
|
rs1883596141
|
|
NM_000017.4(ACADS):c.*305C>A
|
rs550652942
|
|
NM_000017.4(ACADS):c.*86C>T
|
rs374762327
|
|
NM_000017.4(ACADS):c.*91G>T
|
rs886049031
|
|
NM_000017.4(ACADS):c.-56C>T
|
rs567626964
|
|
NM_000017.4(ACADS):c.1025T>C (p.Ile342Thr)
|
|
|
NM_000017.4(ACADS):c.1028A>G (p.Lys343Arg)
|
rs1883556301
|
|
NM_000017.4(ACADS):c.1030-3_1044dup
|
rs1883566976
|
|
NM_000017.4(ACADS):c.1054G>A (p.Ala352Thr)
|
rs202078273
|
|
NM_000017.4(ACADS):c.1064C>T (p.Ala355Val)
|
rs770439736
|
|
NM_000017.4(ACADS):c.1066G>A (p.Ala356Thr)
|
rs768733898
|
|
NM_000017.4(ACADS):c.1067C>T (p.Ala356Val)
|
rs1378527596
|
|
NM_000017.4(ACADS):c.1072G>T (p.Ala358Ser)
|
|
|
NM_000017.4(ACADS):c.1077C>G (p.Ile359Met)
|
|
|
NM_000017.4(ACADS):c.1084C>G (p.Gln362Glu)
|
rs541587321
|
|
NM_000017.4(ACADS):c.1102G>A (p.Gly368Ser)
|
rs1433674196
|
|
NM_000017.4(ACADS):c.1112G>C (p.Gly371Ala)
|
|
|
NM_000017.4(ACADS):c.1141C>A (p.His381Asn)
|
rs1219162519
|
|
NM_000017.4(ACADS):c.1146C>A (p.Tyr382Ter)
|
rs1555244413
|
|
NM_000017.4(ACADS):c.1148G>T (p.Arg383Leu)
|
rs35233375
|
|
NM_000017.4(ACADS):c.1153G>A (p.Ala385Thr)
|
rs202124189
|
|
NM_000017.4(ACADS):c.1153G>T (p.Ala385Ser)
|
rs202124189
|
|
NM_000017.4(ACADS):c.1182del (p.Ser395fs)
|
rs1555244432
|
|
NM_000017.4(ACADS):c.1186G>A (p.Glu396Lys)
|
|
|
NM_000017.4(ACADS):c.1195C>T (p.Arg399Trp)
|
rs375931905
|
|
NM_000017.4(ACADS):c.1213del (p.His405fs)
|
rs1555244455
|
|
NM_000017.4(ACADS):c.1226G>C (p.Ser409Thr)
|
|
|
NM_000017.4(ACADS):c.151_153del (p.Lys51del)
|
|
|
NM_000017.4(ACADS):c.152A>G (p.Lys51Arg)
|
|
|
NM_000017.4(ACADS):c.157T>G (p.Leu53Val)
|
rs1883110478
|
|
NM_000017.4(ACADS):c.170C>T (p.Ala57Val)
|
|
|
NM_000017.4(ACADS):c.189A>T (p.Glu63Asp)
|
|
|
NM_000017.4(ACADS):c.193C>A (p.Leu65Ile)
|
rs377388400
|
|
NM_000017.4(ACADS):c.203C>T (p.Ala68Val)
|
rs148789330
|
|
NM_000017.4(ACADS):c.215A>G (p.Lys72Arg)
|
|
|
NM_000017.4(ACADS):c.215AGA[1] (p.Lys73del)
|
rs1883462118
|
|
NM_000017.4(ACADS):c.222G>A (p.Met74Ile)
|
|
|
NM_000017.4(ACADS):c.226G>T (p.Gly76Trp)
|
|
|
NM_000017.4(ACADS):c.244A>C (p.Met82Leu)
|
|
|
NM_000017.4(ACADS):c.259G>A (p.Glu87Lys)
|
|
|
NM_000017.4(ACADS):c.277C>A (p.Leu93Ile)
|
rs1358146160
|
|
NM_000017.4(ACADS):c.280G>A (p.Asp94Asn)
|
rs772604031
|
|
NM_000017.4(ACADS):c.295G>A (p.Ala99Thr)
|
|
|
NM_000017.4(ACADS):c.298A>G (p.Ile100Val)
|
|
|
NM_000017.4(ACADS):c.301G>A (p.Ala101Thr)
|
|
|
NM_000017.4(ACADS):c.314T>A (p.Ile105Asn)
|
rs1035363801
|
|
NM_000017.4(ACADS):c.320_321inv (p.Arg107His)
|
|
|
NM_000017.4(ACADS):c.321_322inv (p.Gly108Ser)
|
|
|
NM_000017.4(ACADS):c.323G>A (p.Gly108Asp)
|
rs387906951
|
|
NM_000017.4(ACADS):c.328G>A (p.Ala110Thr)
|
rs780571371
|
|
NM_000017.4(ACADS):c.347T>C (p.Met116Thr)
|
|
|
NM_000017.4(ACADS):c.352G>A (p.Val118Ile)
|
|
|
NM_000017.4(ACADS):c.359A>G (p.Asn120Ser)
|
|
|
NM_000017.4(ACADS):c.360+49C>T
|
|
|
NM_000017.4(ACADS):c.360+6C>G
|
|
|
NM_000017.4(ACADS):c.361-14C>A
|
|
|
NM_000017.4(ACADS):c.364C>T (p.Leu122Phe)
|
rs1555243946
|
|
NM_000017.4(ACADS):c.380T>C (p.Ile127Thr)
|
rs1555243949
|
|
NM_000017.4(ACADS):c.38C>T (p.Ala13Val)
|
|
|
NM_000017.4(ACADS):c.431C>T (p.Thr144Ile)
|
rs764413160
|
|
NM_000017.4(ACADS):c.43A>G (p.Arg15Gly)
|
rs1338857285
|
|
NM_000017.4(ACADS):c.460_461insAAC (p.Ala153_Leu154insGln)
|
rs1555243966
|
|
NM_000017.4(ACADS):c.461T>G (p.Leu154Arg)
|
rs1057523592
|
|
NM_000017.4(ACADS):c.463_465dup (p.Ser155dup)
|
rs1555243967
|
|
NM_000017.4(ACADS):c.47-6C>A
|
rs749023748
|
|
NM_000017.4(ACADS):c.473-5G>A
|
rs2136949081
|
|
NM_000017.4(ACADS):c.477C>A (p.Asn159Lys)
|
|
|
NM_000017.4(ACADS):c.478G>A (p.Gly160Ser)
|
|
|
NM_000017.4(ACADS):c.494C>T (p.Ala165Val)
|
|
|
NM_000017.4(ACADS):c.505A>C (p.Thr169Pro)
|
rs777002501
|
|
NM_000017.4(ACADS):c.508G>A (p.Ala170Thr)
|
rs765604622
|
|
NM_000017.4(ACADS):c.516C>T (p.Ala172=)
|
rs531683812
|
|
NM_000017.4(ACADS):c.542G>A (p.Gly181Glu)
|
rs2136949225
|
|
NM_000017.4(ACADS):c.552C>T (p.Ala184=)
|
rs886049030
|
|
NM_000017.4(ACADS):c.557T>A (p.Ile186Asn)
|
|
|
NM_000017.4(ACADS):c.610G>C (p.Ala204Pro)
|
|
|
NM_000017.4(ACADS):c.620A>G (p.Asn207Ser)
|
|
|
NM_000017.4(ACADS):c.624+5G>A
|
rs2136949319
|
|
NM_000017.4(ACADS):c.625-3C>T
|
|
|
NM_000017.4(ACADS):c.654_655delinsCT (p.Thr219Ser)
|
rs1883526461
|
|
NM_000017.4(ACADS):c.674G>A (p.Gly225Glu)
|
rs2136949808
|
|
NM_000017.4(ACADS):c.67C>T (p.Arg23Trp)
|
rs770222581
|
|
NM_000017.4(ACADS):c.683A>C (p.Glu228Ala)
|
|
|
NM_000017.4(ACADS):c.68G>C (p.Arg23Pro)
|
|
|
NM_000017.4(ACADS):c.691C>G (p.Leu231Val)
|
|
|
NM_000017.4(ACADS):c.712A>G (p.Thr238Ala)
|
rs2136949858
|
|
NM_000017.4(ACADS):c.740G>T (p.Arg247Leu)
|
|
|
NM_000017.4(ACADS):c.760C>G (p.Leu254Val)
|
rs979775355
|
|
NM_000017.4(ACADS):c.773G>A (p.Gly258Glu)
|
rs2136949926
|
|
NM_000017.4(ACADS):c.795+4A>G
|
|
|
NM_000017.4(ACADS):c.796-11G>A
|
|
|
NM_000017.4(ACADS):c.796C>G (p.Gln266Glu)
|
|
|
NM_000017.4(ACADS):c.79A>C (p.Thr27Pro)
|
|
|
NM_000017.4(ACADS):c.80C>T (p.Thr27Ile)
|
|
|
NM_000017.4(ACADS):c.817A>G (p.Ile273Val)
|
|
|
NM_000017.4(ACADS):c.823A>T (p.Ile275Phe)
|
rs1883539190
|
|
NM_000017.4(ACADS):c.842G>T (p.Gly281Val)
|
|
|
NM_000017.4(ACADS):c.848C>T (p.Ala283Val)
|
rs758290381
|
|
NM_000017.4(ACADS):c.856G>A (p.Ala286Thr)
|
rs781119134
|
|
NM_000017.4(ACADS):c.859C>T (p.Leu287Phe)
|
rs1373305585
|
|
NM_000017.4(ACADS):c.862G>T (p.Asp288Tyr)
|
|
|
NM_000017.4(ACADS):c.868G>C (p.Ala290Pro)
|
rs777181213
|
|
NM_000017.4(ACADS):c.86A>G (p.Tyr29Cys)
|
|
|
NM_000017.4(ACADS):c.910C>T (p.Leu304Phe)
|
|
|
NM_000017.4(ACADS):c.910dup (p.Leu304fs)
|
rs1057516606
|
|
NM_000017.4(ACADS):c.933+5T>C
|
|
|
NM_000017.4(ACADS):c.945_953del (p.Asp316_Ala318del)
|
rs1555244266
|
|
NM_000017.4(ACADS):c.949_954dup (p.Met317_Ala318dup)
|
rs1555244270
|
|
NM_000017.4(ACADS):c.94G>A (p.Val32Met)
|
|
|
NM_000017.4(ACADS):c.962_973del (p.Leu321_Ala324del)
|
rs1373044759
|
|
NM_000017.4(ACADS):c.974G>A (p.Arg325Gln)
|
rs932525260
|
|
NM_000017.4(ACADS):c.989_990delinsAT (p.Arg330His)
|
rs1555244280
|
|
NM_000017.4(ACADS):c.989_990delinsTT (p.Arg330Leu)
|
|
|
NM_000017.4(ACADS):c.995C>T (p.Ala332Val)
|
rs1555244290
|
|
NM_000018.3(ACADVL):c.-132C>T
|
rs886053371
|
|
NM_000018.3(ACADVL):c.-49_-48insGGGCACGCGGGCGTGCAGGACGC
|
rs6145976
|
|
NM_000018.3(ACADVL):c.-49_-48insGGGCGTGCAGGACGCCGGCGTGCAGGACGC
|
rs753389263
|
|
NM_000018.3(ACADVL):c.-49_-48insGGGCGTGCAGGACGT
|
rs1555527399
|
|
NM_000018.3(ACADVL):c.-50_-49insTGGGCGTGCAGGACGCGGGCGTGCAGGACG
|
rs1555527393
|
|
NM_000018.3(ACADVL):c.-52_-51insTGCGGGCGTGCAGGA
|
rs1555527401
|
|
NM_000018.3(ACADVL):c.-65_-64insCGGGCGTGCAGGACG
|
rs1555527385
|
|
NM_000018.4(ACADVL):c.*116C>G
|
rs2071420563
|
|
NM_000018.4(ACADVL):c.*8del
|
rs398123078
|
|
NM_000018.4(ACADVL):c.1004A>G (p.His335Arg)
|
rs2142980423
|
|
NM_000018.4(ACADVL):c.1007T>A (p.Ile336Asn)
|
rs1431769044
|
|
NM_000018.4(ACADVL):c.1009C>T (p.Leu337Phe)
|
rs1567565656
|
|
NM_000018.4(ACADVL):c.1009_1011del (p.Leu337del)
|
rs1315330884
|
|
NM_000018.4(ACADVL):c.1015A>T (p.Asn339Tyr)
|
rs2071293900
|
|
NM_000018.4(ACADVL):c.1019G>A (p.Gly340Glu)
|
rs934797393
|
|
NM_000018.4(ACADVL):c.1019G>T (p.Gly340Val)
|
rs934797393
|
|
NM_000018.4(ACADVL):c.1022G>C (p.Arg341Thr)
|
rs1064793382
|
|
NM_000018.4(ACADVL):c.1031T>G (p.Met344Arg)
|
rs2142980587
|
|
NM_000018.4(ACADVL):c.1037C>A (p.Ala346Glu)
|
|
|
NM_000018.4(ACADVL):c.1037C>G (p.Ala346Gly)
|
|
|
NM_000018.4(ACADVL):c.1043T>C (p.Leu348Pro)
|
|
|
NM_000018.4(ACADVL):c.1045G>C (p.Ala349Pro)
|
rs1567565733
|
|
NM_000018.4(ACADVL):c.1048G>A (p.Gly350Ser)
|
rs767138639
|
|
NM_000018.4(ACADVL):c.1049G>A (p.Gly350Asp)
|
|
|
NM_000018.4(ACADVL):c.1049G>C (p.Gly350Ala)
|
rs1343647718
|
|
NM_000018.4(ACADVL):c.1052C>T (p.Thr351Ile)
|
rs796051911
|
|
NM_000018.4(ACADVL):c.1055T>C (p.Met352Thr)
|
|
|
NM_000018.4(ACADVL):c.1055T>G (p.Met352Arg)
|
rs2071296504
|
|
NM_000018.4(ACADVL):c.1058G>A (p.Arg353Lys)
|
|
|
NM_000018.4(ACADVL):c.1062CAT[1] (p.Ile356del)
|
rs754325237
|
|
NM_000018.4(ACADVL):c.1063_1064delinsGG (p.Ile355Gly)
|
|
|
NM_000018.4(ACADVL):c.1064T>G (p.Ile355Ser)
|
rs1351976589
|
|
NM_000018.4(ACADVL):c.1072A>G (p.Lys358Glu)
|
|
|
NM_000018.4(ACADVL):c.1077+3_1077+6del
|
rs2071298305
|
|
NM_000018.4(ACADVL):c.1077+5G>A
|
|
|
NM_000018.4(ACADVL):c.1078-5T>G
|
rs1266629718
|
|
NM_000018.4(ACADVL):c.107C>T (p.Ala36Val)
|
rs1165915680
|
|
NM_000018.4(ACADVL):c.1081G>A (p.Asp361Asn)
|
rs1331739604
|
|
NM_000018.4(ACADVL):c.1082A>G (p.Asp361Gly)
|
rs1214845060
|
|
NM_000018.4(ACADVL):c.1093A>G (p.Asn365Asp)
|
rs988045058
|
|
NM_000018.4(ACADVL):c.1103A>C (p.Gln368Pro)
|
rs776063244
|
|
NM_000018.4(ACADVL):c.1103A>T (p.Gln368Leu)
|
rs776063244
|
|
NM_000018.4(ACADVL):c.1106T>C (p.Phe369Ser)
|
rs398123080
|
|
NM_000018.4(ACADVL):c.110G>A (p.Arg37Gln)
|
|
|
NM_000018.4(ACADVL):c.1111G>A (p.Glu371Lys)
|
|
|
NM_000018.4(ACADVL):c.1128T>G (p.Phe376Leu)
|
|
|
NM_000018.4(ACADVL):c.1141G>A (p.Glu381Lys)
|
rs1212266005
|
|
NM_000018.4(ACADVL):c.1147C>A (p.Leu383Met)
|
|
|
NM_000018.4(ACADVL):c.1147C>G (p.Leu383Val)
|
rs756194870
|
|
NM_000018.4(ACADVL):c.1158G>A (p.Met386Ile)
|
rs2142982416
|
|
NM_000018.4(ACADVL):c.1159G>C (p.Val387Leu)
|
rs1422904205
|
|
NM_000018.4(ACADVL):c.1162A>T (p.Met388Leu)
|
|
|
NM_000018.4(ACADVL):c.1170G>C (p.Gln390His)
|
rs775196157
|
|
NM_000018.4(ACADVL):c.1174G>A (p.Val392Ile)
|
|
|
NM_000018.4(ACADVL):c.1182+2dup
|
rs1597532215
|
|
NM_000018.4(ACADVL):c.1182+3G>A
|
rs376281637
|
|
NM_000018.4(ACADVL):c.1182+5G>A
|
|
|
NM_000018.4(ACADVL):c.1183-2dup
|
rs1555528721
|
|
NM_000018.4(ACADVL):c.1183-7A>G
|
rs750441118
|
|
NM_000018.4(ACADVL):c.1185C>G (p.Ser395=)
|
|
|
NM_000018.4(ACADVL):c.1186A>G (p.Met396Val)
|
rs2071337130
|
|
NM_000018.4(ACADVL):c.1192_1206dup (p.Tyr398_Ala402dup)
|
rs2142984192
|
|
NM_000018.4(ACADVL):c.119A>G (p.Tyr40Cys)
|
|
|
NM_000018.4(ACADVL):c.11C>A (p.Ala4Asp)
|
rs1019684161
|
|
NM_000018.4(ACADVL):c.1205C>A (p.Ala402Asp)
|
rs727503793
|
|
NM_000018.4(ACADVL):c.1205C>T (p.Ala402Val)
|
rs727503793
|
|
NM_000018.4(ACADVL):c.1215C>T (p.Asp405=)
|
rs2071338251
|
|
NM_000018.4(ACADVL):c.1222G>A (p.Ala408Thr)
|
rs2071338597
|
|
NM_000018.4(ACADVL):c.1233C>G (p.Phe411Leu)
|
|
|
NM_000018.4(ACADVL):c.1240G>A (p.Glu414Lys)
|
|
|
NM_000018.4(ACADVL):c.1250T>G (p.Ile417Ser)
|
rs2071340219
|
|
NM_000018.4(ACADVL):c.1251C>T (p.Ile417=)
|
|
|
NM_000018.4(ACADVL):c.1254C>G (p.Ser418Arg)
|
rs2071340371
|
|
NM_000018.4(ACADVL):c.1268C>T (p.Ser423Leu)
|
rs1451455641
|
|
NM_000018.4(ACADVL):c.1269+13dup
|
rs2071341157
|
|
NM_000018.4(ACADVL):c.1269+1del
|
rs2071340733
|
|
NM_000018.4(ACADVL):c.1276G>A (p.Ala426Thr)
|
rs1419478766
|
|
NM_000018.4(ACADVL):c.127G>A (p.Gly43Ser)
|
|
|
NM_000018.4(ACADVL):c.1281G>C (p.Trp427Cys)
|
rs1567567312
|
|
NM_000018.4(ACADVL):c.1291G>C (p.Asp431His)
|
rs781658827
|
|
NM_000018.4(ACADVL):c.1297T>C (p.Cys433Arg)
|
rs886053374
|
|
NM_000018.4(ACADVL):c.1309A>G (p.Met437Val)
|
rs2071345754
|
|
NM_000018.4(ACADVL):c.1321G>A (p.Gly441Ser)
|
rs2071346777
|
|
NM_000018.4(ACADVL):c.1322G>C (p.Gly441Ala)
|
rs2309689
|
|
NM_000018.4(ACADVL):c.1328T>G (p.Met443Arg)
|
rs886043236
|
|
NM_000018.4(ACADVL):c.1329G>A (p.Met443Ile)
|
rs2071347136
|
|
NM_000018.4(ACADVL):c.1332+2T>A
|
|
|
NM_000018.4(ACADVL):c.1332+5A>G
|
|
|
NM_000018.4(ACADVL):c.1333-3T>G
|
rs1057523216
|
|
NM_000018.4(ACADVL):c.1340G>A (p.Gly447Glu)
|
rs1555528779
|
|
NM_000018.4(ACADVL):c.1342G>A (p.Val448Ile)
|
rs2071353533
|
|
NM_000018.4(ACADVL):c.1342G>C (p.Val448Leu)
|
|
|
NM_000018.4(ACADVL):c.1346A>G (p.Glu449Gly)
|
rs765346654
|
|
NM_000018.4(ACADVL):c.1358G>C (p.Arg453Pro)
|
rs138058572
|
|
NM_000018.4(ACADVL):c.1360G>C (p.Asp454His)
|
rs1419606204
|
|
NM_000018.4(ACADVL):c.1367G>A (p.Arg456His)
|
rs794727112
|
|
NM_000018.4(ACADVL):c.1370T>C (p.Ile457Thr)
|
rs1392710608
|
|
NM_000018.4(ACADVL):c.1376G>C (p.Arg459Pro)
|
rs751995154
|
|
NM_000018.4(ACADVL):c.138+2dup
|
rs1555527548
|
|
NM_000018.4(ACADVL):c.138+5G>A
|
rs2071124642
|
|
NM_000018.4(ACADVL):c.1382T>C (p.Phe461Ser)
|
rs755432945
|
|
NM_000018.4(ACADVL):c.1384G>A (p.Glu462Lys)
|
rs2071355499
|
|
NM_000018.4(ACADVL):c.1387G>C (p.Gly463Arg)
|
rs2071355667
|
|
NM_000018.4(ACADVL):c.139-3C>T
|
rs1555527630
|
|
NM_000018.4(ACADVL):c.1391C>G (p.Thr464Arg)
|
rs1555528796
|
|
NM_000018.4(ACADVL):c.1391C>T (p.Thr464Ile)
|
rs1555528796
|
|
NM_000018.4(ACADVL):c.13C>G (p.Arg5Gly)
|
rs747672165
|
|
NM_000018.4(ACADVL):c.1400T>A (p.Ile467Asn)
|
rs2142986109
|
|
NM_000018.4(ACADVL):c.1411T>C (p.Phe471Leu)
|
|
|
NM_000018.4(ACADVL):c.1427G>A (p.Gly476Asp)
|
rs2071357482
|
|
NM_000018.4(ACADVL):c.1429T>C (p.Cys477Arg)
|
rs2071357577
|
|
NM_000018.4(ACADVL):c.142G>A (p.Ala48Thr)
|
|
|
NM_000018.4(ACADVL):c.1430G>A (p.Cys477Tyr)
|
rs1555528803
|
|
NM_000018.4(ACADVL):c.1434+14T>A
|
rs202217537
|
|
NM_000018.4(ACADVL):c.1434+14T>C
|
rs202217537
|
|
NM_000018.4(ACADVL):c.1435-3T>A
|
|
|
NM_000018.4(ACADVL):c.1435G>A (p.Asp479Asn)
|
rs2071362937
|
|
NM_000018.4(ACADVL):c.143C>T (p.Ala48Val)
|
rs2142963990
|
|
NM_000018.4(ACADVL):c.1445A>G (p.Lys482Arg)
|
rs2142986762
|
|
NM_000018.4(ACADVL):c.1457G>T (p.Gly486Val)
|
|
|
NM_000018.4(ACADVL):c.1467T>G (p.Ser489Arg)
|
rs771117714
|
|
NM_000018.4(ACADVL):c.1486G>A (p.Gly496Arg)
|
|
|
NM_000018.4(ACADVL):c.1496G>C (p.Gly499Ala)
|
rs764943140
|
|
NM_000018.4(ACADVL):c.1496G>T (p.Gly499Val)
|
rs764943140
|
|
NM_000018.4(ACADVL):c.1508G>C (p.Gly503Ala)
|
rs2142987050
|
|
NM_000018.4(ACADVL):c.1510G>A (p.Glu504Lys)
|
|
|
NM_000018.4(ACADVL):c.1510G>C (p.Glu504Gln)
|
rs376795010
|
|
NM_000018.4(ACADVL):c.1532+6C>T
|
rs2071368248
|
|
NM_000018.4(ACADVL):c.1532G>C (p.Arg511Pro)
|
rs200771970
|
|
NM_000018.4(ACADVL):c.1533G>A (p.Arg511=)
|
rs886038214
|
|
NM_000018.4(ACADVL):c.1538C>A (p.Ala513Glu)
|
rs766003820
|
|
NM_000018.4(ACADVL):c.1538C>G (p.Ala513Gly)
|
rs766003820
|
|
NM_000018.4(ACADVL):c.1552G>C (p.Gly518Arg)
|
|
|
NM_000018.4(ACADVL):c.1578C>T (p.His526=)
|
rs376504514
|
|
NM_000018.4(ACADVL):c.1580C>T (p.Pro527Leu)
|
|
|
NM_000018.4(ACADVL):c.1605+5_1605+6inv
|
|
|
NM_000018.4(ACADVL):c.1605+6_1605+7delinsCC
|
rs1064795676
|
|
NM_000018.4(ACADVL):c.1605+6_1605+7inv
|
|
|
NM_000018.4(ACADVL):c.1606-10A>C
|
rs2071381723
|
|
NM_000018.4(ACADVL):c.1613G>C (p.Arg538Pro)
|
rs201350598
|
|
NM_000018.4(ACADVL):c.1616C>A (p.Ala539Asp)
|
rs781613690
|
|
NM_000018.4(ACADVL):c.1616C>T (p.Ala539Val)
|
|
|
NM_000018.4(ACADVL):c.1617T>C (p.Ala539=)
|
rs1555528948
|
|
NM_000018.4(ACADVL):c.161C>T (p.Ser54Phe)
|
|
|
NM_000018.4(ACADVL):c.1630G>A (p.Ala544Thr)
|
|
|
NM_000018.4(ACADVL):c.1643A>T (p.Glu548Val)
|
rs2071384243
|
|
NM_000018.4(ACADVL):c.1657A>C (p.Lys553Gln)
|
rs1555528957
|
|
NM_000018.4(ACADVL):c.1663AAG[1] (p.Lys556del)
|
rs866424446
|
|
NM_000018.4(ACADVL):c.1673T>C (p.Ile558Thr)
|
rs1256129137
|
|
NM_000018.4(ACADVL):c.1678+3_1678+6del
|
rs759135941
|
|
NM_000018.4(ACADVL):c.1679-40T>G
|
|
|
NM_000018.4(ACADVL):c.1679-5del
|
rs1555528999
|
|
NM_000018.4(ACADVL):c.167C>A (p.Pro56His)
|
rs2142964131
|
|
NM_000018.4(ACADVL):c.1698G>A (p.Gln566=)
|
|
|
NM_000018.4(ACADVL):c.1699C>T (p.Arg567Trp)
|
rs864321651
|
|
NM_000018.4(ACADVL):c.1701_1702delinsAG (p.Leu568Val)
|
rs2142989836
|
|
NM_000018.4(ACADVL):c.1708G>T (p.Asp570Tyr)
|
rs2071394443
|
|
NM_000018.4(ACADVL):c.1710C>A (p.Asp570Glu)
|
rs759638134
|
|
NM_000018.4(ACADVL):c.1719C>G (p.Ile573Met)
|
|
|
NM_000018.4(ACADVL):c.1720G>A (p.Asp574Asn)
|
|
|
NM_000018.4(ACADVL):c.1732A>G (p.Met578Val)
|
|
|
NM_000018.4(ACADVL):c.1744C>T (p.Leu582Phe)
|
rs1466587776
|
|
NM_000018.4(ACADVL):c.1745T>C (p.Leu582Pro)
|
rs2142990030
|
|
NM_000018.4(ACADVL):c.1751+14C>T
|
|
|
NM_000018.4(ACADVL):c.1751G>A (p.Arg584Lys)
|
|
|
NM_000018.4(ACADVL):c.1751G>C (p.Arg584Thr)
|
rs754123613
|
|
NM_000018.4(ACADVL):c.1754C>A (p.Ala585Asp)
|
rs374729641
|
|
NM_000018.4(ACADVL):c.1760G>A (p.Arg587Lys)
|
|
|
NM_000018.4(ACADVL):c.1762T>C (p.Ser588Pro)
|
rs780655964
|
|
NM_000018.4(ACADVL):c.1763C>T (p.Ser588Phe)
|
rs2071402000
|
|
NM_000018.4(ACADVL):c.1766T>C (p.Leu589Pro)
|
rs1567569494
|
|
NM_000018.4(ACADVL):c.1769G>A (p.Ser590Asn)
|
|
|
NM_000018.4(ACADVL):c.1769G>T (p.Ser590Ile)
|
|
|
NM_000018.4(ACADVL):c.1777C>T (p.His593Tyr)
|
|
|
NM_000018.4(ACADVL):c.1784C>G (p.Thr595Arg)
|
|
|
NM_000018.4(ACADVL):c.1784C>T (p.Thr595Met)
|
|
|
NM_000018.4(ACADVL):c.17T>C (p.Met6Thr)
|
|
|
NM_000018.4(ACADVL):c.1800A>T (p.Lys600Asn)
|
rs2071403522
|
|
NM_000018.4(ACADVL):c.1801A>G (p.Met601Val)
|
|
|
NM_000018.4(ACADVL):c.1801del (p.Met601fs)
|
|
|
NM_000018.4(ACADVL):c.1807T>C (p.Cys603Arg)
|
rs2071403861
|
|
NM_000018.4(ACADVL):c.1808del (p.Cys603fs)
|
rs2142990894
|
|
NM_000018.4(ACADVL):c.180G>C (p.Leu60=)
|
rs886053372
|
|
NM_000018.4(ACADVL):c.1813A>C (p.Thr605Pro)
|
rs2071404097
|
|
NM_000018.4(ACADVL):c.1814C>G (p.Thr605Ser)
|
|
|
NM_000018.4(ACADVL):c.1818G>A (p.Trp606Ter)
|
rs2071404265
|
|
NM_000018.4(ACADVL):c.1825G>C (p.Glu609Gln)
|
rs398123086
|
|
NM_000018.4(ACADVL):c.1826A>C (p.Glu609Ala)
|
rs908625615
|
|
NM_000018.4(ACADVL):c.1832C>T (p.Ala611Val)
|
rs2071408325
|
|
NM_000018.4(ACADVL):c.1835C>G (p.Ala612Gly)
|
rs374898424
|
|
NM_000018.4(ACADVL):c.1835C>T (p.Ala612Val)
|
|
|
NM_000018.4(ACADVL):c.1842C>G (p.Ile614Met)
|
|
|
NM_000018.4(ACADVL):c.1848G>C (p.Glu616Asp)
|
rs372886650
|
|
NM_000018.4(ACADVL):c.1855G>A (p.Ala619Thr)
|
|
|
NM_000018.4(ACADVL):c.1864C>T (p.Gln622Ter)
|
rs1555529172
|
|
NM_000018.4(ACADVL):c.1865A>G (p.Gln622Arg)
|
|
|
NM_000018.4(ACADVL):c.1870G>C (p.Asp624His)
|
rs1597541044
|
|
NM_000018.4(ACADVL):c.1873C>A (p.Pro625Thr)
|
|
|
NM_000018.4(ACADVL):c.1873C>T (p.Pro625Ser)
|
rs377044444
|
|
NM_000018.4(ACADVL):c.1878G>A (p.Trp626Ter)
|
rs1555529186
|
|
NM_000018.4(ACADVL):c.1881G>A (p.Gln627=)
|
rs931018661
|
|
NM_000018.4(ACADVL):c.1881G>C (p.Gln627His)
|
rs931018661
|
|
NM_000018.4(ACADVL):c.1882del (p.Gln628fs)
|
rs1597541142
|
|
NM_000018.4(ACADVL):c.188A>G (p.Lys63Arg)
|
|
|
NM_000018.4(ACADVL):c.1895G>A (p.Arg632His)
|
|
|
NM_000018.4(ACADVL):c.1896dup (p.Asn633fs)
|
rs2071412513
|
|
NM_000018.4(ACADVL):c.18G>A (p.Met6Ile)
|
|
|
NM_000018.4(ACADVL):c.1901T>G (p.Phe634Cys)
|
rs2071412683
|
|
NM_000018.4(ACADVL):c.1922T>C (p.Leu641Ser)
|
rs2071413884
|
|
NM_000018.4(ACADVL):c.1923G>C (p.Leu641Phe)
|
rs1452402269
|
|
NM_000018.4(ACADVL):c.1930C>T (p.Arg644Trp)
|
|
|
NM_000018.4(ACADVL):c.1931G>C (p.Arg644Pro)
|
rs774762384
|
|
NM_000018.4(ACADVL):c.1932G>A (p.Arg644=)
|
rs886053375
|
|
NM_000018.4(ACADVL):c.1937G>T (p.Gly646Val)
|
rs768878569
|
|
NM_000018.4(ACADVL):c.193C>T (p.Pro65Ser)
|
|
|
NM_000018.4(ACADVL):c.1953C>A (p.Asn651Lys)
|
rs1417091241
|
|
NM_000018.4(ACADVL):c.1955C>T (p.Pro652Leu)
|
|
|
NM_000018.4(ACADVL):c.1958T>C (p.Leu653Pro)
|
|
|
NM_000018.4(ACADVL):c.1962C>T (p.Gly654=)
|
|
|
NM_000018.4(ACADVL):c.1964T>C (p.Phe655Ser)
|
rs377659973
|
|
NM_000018.4(ACADVL):c.1966T>A (p.Ter656Arg)
|
|
|
NM_000018.4(ACADVL):c.1967G>C (p.Ter656Ser)
|
rs2071416769
|
|
NM_000018.4(ACADVL):c.1968A>C (p.Ter656Cys)
|
|
|
NM_000018.4(ACADVL):c.196G>A (p.Ala66Thr)
|
rs142745084
|
|
NM_000018.4(ACADVL):c.197C>G (p.Ala66Gly)
|
rs2071149098
|
|
NM_000018.4(ACADVL):c.204+5G>A
|
rs958328801
|
|
NM_000018.4(ACADVL):c.204G>A (p.Ala68=)
|
rs756969179
|
|
NM_000018.4(ACADVL):c.205-34A>G
|
rs770101303
|
|
NM_000018.4(ACADVL):c.205-5C>G
|
rs768537914
|
|
NM_000018.4(ACADVL):c.20C>A (p.Ala7Asp)
|
rs2142959240
|
|
NM_000018.4(ACADVL):c.215C>T (p.Ser72Phe)
|
rs1161495077
|
|
NM_000018.4(ACADVL):c.218T>C (p.Phe73Ser)
|
rs2071156261
|
|
NM_000018.4(ACADVL):c.221C>T (p.Ala74Val)
|
rs1470149388
|
|
NM_000018.4(ACADVL):c.230T>C (p.Met77Thr)
|
rs1555527718
|
|
NM_000018.4(ACADVL):c.233T>A (p.Phe78Tyr)
|
|
|
NM_000018.4(ACADVL):c.234C>G (p.Phe78Leu)
|
rs2142965570
|
|
NM_000018.4(ACADVL):c.236A>G (p.Lys79Arg)
|
rs2071157517
|
|
NM_000018.4(ACADVL):c.244C>A (p.Leu82Ile)
|
|
|
NM_000018.4(ACADVL):c.247A>G (p.Thr83Ala)
|
rs1339560413
|
|
NM_000018.4(ACADVL):c.250A>G (p.Thr84Ala)
|
|
|
NM_000018.4(ACADVL):c.257A>G (p.Gln86Arg)
|
|
|
NM_000018.4(ACADVL):c.259G>A (p.Val87Met)
|
rs2142965839
|
|
NM_000018.4(ACADVL):c.260T>C (p.Val87Ala)
|
rs796051907
|
|
NM_000018.4(ACADVL):c.260T>G (p.Val87Gly)
|
rs796051907
|
|
NM_000018.4(ACADVL):c.26G>C (p.Ser9Thr)
|
|
|
NM_000018.4(ACADVL):c.271C>T (p.Pro91Ser)
|
rs398123087
|
|
NM_000018.4(ACADVL):c.272C>A (p.Pro91Gln)
|
rs2071160066
|
|
NM_000018.4(ACADVL):c.272C>T (p.Pro91Leu)
|
|
|
NM_000018.4(ACADVL):c.277+5G>A
|
rs2071160721
|
|
NM_000018.4(ACADVL):c.277G>A (p.Val93Met)
|
|
|
NM_000018.4(ACADVL):c.277G>C (p.Val93Leu)
|
|
|
NM_000018.4(ACADVL):c.277G>T (p.Val93Leu)
|
rs768632138
|
|
NM_000018.4(ACADVL):c.285C>A (p.Asn95Lys)
|
|
|
NM_000018.4(ACADVL):c.289G>A (p.Glu97Lys)
|
|
|
NM_000018.4(ACADVL):c.294G>C (p.Gln98His)
|
rs794727695
|
|
NM_000018.4(ACADVL):c.299A>G (p.Gln100Arg)
|
rs774141572
|
|
NM_000018.4(ACADVL):c.300G>C (p.Gln100His)
|
rs1268173973
|
|
NM_000018.4(ACADVL):c.325G>A (p.Val109Met)
|
rs754207297
|
|
NM_000018.4(ACADVL):c.329C>A (p.Ser110Tyr)
|
rs757608507
|
|
NM_000018.4(ACADVL):c.329C>T (p.Ser110Phe)
|
rs757608507
|
|
NM_000018.4(ACADVL):c.331_339del (p.Arg111_Phe113del)
|
rs1555527820
|
|
NM_000018.4(ACADVL):c.338T>C (p.Phe113Ser)
|
rs2071172343
|
|
NM_000018.4(ACADVL):c.339C>A (p.Phe113Leu)
|
rs750653177
|
|
NM_000018.4(ACADVL):c.342+4A>C
|
|
|
NM_000018.4(ACADVL):c.346G>A (p.Val116Met)
|
|
|
NM_000018.4(ACADVL):c.351C>G (p.Asn117Lys)
|
rs779745734
|
|
NM_000018.4(ACADVL):c.353_358del (p.Asp118_Pro119del)
|
rs2071181405
|
|
NM_000018.4(ACADVL):c.358_360del (p.Ala120del)
|
rs761449573
|
|
NM_000018.4(ACADVL):c.367G>A (p.Asp123Asn)
|
rs1347143307
|
|
NM_000018.4(ACADVL):c.367G>T (p.Asp123Tyr)
|
rs1347143307
|
|
NM_000018.4(ACADVL):c.368A>G (p.Asp123Gly)
|
rs1131691301
|
|
NM_000018.4(ACADVL):c.369C>A (p.Asp123Glu)
|
rs374524648
|
|
NM_000018.4(ACADVL):c.370G>A (p.Ala124Thr)
|
rs560912181
|
|
NM_000018.4(ACADVL):c.370G>T (p.Ala124Ser)
|
rs560912181
|
|
NM_000018.4(ACADVL):c.378G>T (p.Glu126Asp)
|
rs2071183181
|
|
NM_000018.4(ACADVL):c.390G>C (p.Glu130Asp)
|
|
|
NM_000018.4(ACADVL):c.398G>C (p.Trp133Ser)
|
|
|
NM_000018.4(ACADVL):c.403G>T (p.Gly135Cys)
|
|
|
NM_000018.4(ACADVL):c.404_412del (p.Gly135_Lys137del)
|
rs2071184523
|
|
NM_000018.4(ACADVL):c.406C>G (p.Leu136Val)
|
rs1460246415
|
|
NM_000018.4(ACADVL):c.40C>G (p.Leu14Val)
|
|
|
NM_000018.4(ACADVL):c.425T>C (p.Phe142Ser)
|
rs398123088
|
|
NM_000018.4(ACADVL):c.428G>C (p.Gly143Ala)
|
rs1458941582
|
|
NM_000018.4(ACADVL):c.430C>G (p.Leu144Val)
|
|
|
NM_000018.4(ACADVL):c.434A>C (p.Gln145Pro)
|
|
|
NM_000018.4(ACADVL):c.435A>G (p.Gln145=)
|
|
|
NM_000018.4(ACADVL):c.436G>A (p.Val146Met)
|
rs398123089
|
|
NM_000018.4(ACADVL):c.439C>T (p.Pro147Ser)
|
rs1032857886
|
|
NM_000018.4(ACADVL):c.442A>T (p.Ser148Cys)
|
rs892944229
|
|
NM_000018.4(ACADVL):c.443G>C (p.Ser148Thr)
|
|
|
NM_000018.4(ACADVL):c.455G>T (p.Gly152Val)
|
|
|
NM_000018.4(ACADVL):c.461G>A (p.Gly154Asp)
|
|
|
NM_000018.4(ACADVL):c.461G>C (p.Gly154Ala)
|
rs2071188406
|
|
NM_000018.4(ACADVL):c.466T>C (p.Cys156Arg)
|
rs2071188725
|
|
NM_000018.4(ACADVL):c.475C>G (p.Gln159Glu)
|
rs779650201
|
|
NM_000018.4(ACADVL):c.477+17G>A
|
rs375076326
|
|
NM_000018.4(ACADVL):c.477+50A>T
|
rs150033153
|
|
NM_000018.4(ACADVL):c.477G>C (p.Gln159His)
|
rs2071189324
|
|
NM_000018.4(ACADVL):c.481G>A (p.Ala161Thr)
|
rs375284481
|
|
NM_000018.4(ACADVL):c.482C>T (p.Ala161Val)
|
rs796051908
|
|
NM_000018.4(ACADVL):c.491T>C (p.Val164Ala)
|
rs2071225938
|
|
NM_000018.4(ACADVL):c.491T>G (p.Val164Gly)
|
rs2071225938
|
|
NM_000018.4(ACADVL):c.493G>A (p.Glu165Lys)
|
rs2071226145
|
|
NM_000018.4(ACADVL):c.494A>T (p.Glu165Val)
|
|
|
NM_000018.4(ACADVL):c.495G>T (p.Glu165Asp)
|
rs370169077
|
|
NM_000018.4(ACADVL):c.503G>A (p.Gly168Asp)
|
rs2071227236
|
|
NM_000018.4(ACADVL):c.503G>C (p.Gly168Ala)
|
|
|
NM_000018.4(ACADVL):c.506T>C (p.Met169Thr)
|
rs1382262076
|
|
NM_000018.4(ACADVL):c.506T>G (p.Met169Arg)
|
rs1382262076
|
|
NM_000018.4(ACADVL):c.507_527del (p.Met169_Gly175del)
|
rs796051920
|
|
NM_000018.4(ACADVL):c.509A>G (p.His170Arg)
|
|
|
NM_000018.4(ACADVL):c.517G>C (p.Gly173Arg)
|
rs2071227774
|
|
NM_000018.4(ACADVL):c.526A>C (p.Ile176Leu)
|
rs1300720825
|
|
NM_000018.4(ACADVL):c.533T>C (p.Leu178Pro)
|
rs1131691808
|
|
NM_000018.4(ACADVL):c.535G>A (p.Gly179Arg)
|
rs796051909
|
|
NM_000018.4(ACADVL):c.535G>T (p.Gly179Trp)
|
rs796051909
|
|
NM_000018.4(ACADVL):c.542A>G (p.His181Arg)
|
rs1425862331
|
|
NM_000018.4(ACADVL):c.545A>C (p.Gln182Pro)
|
rs2071230096
|
|
NM_000018.4(ACADVL):c.562G>A (p.Gly188Ser)
|
rs2071231356
|
|
NM_000018.4(ACADVL):c.563G>A (p.Gly188Asp)
|
rs2071231444
|
|
NM_000018.4(ACADVL):c.56G>T (p.Gly19Val)
|
|
|
NM_000018.4(ACADVL):c.575T>C (p.Phe192Ser)
|
rs1555528189
|
|
NM_000018.4(ACADVL):c.578G>A (p.Gly193Asp)
|
rs1220348903
|
|
NM_000018.4(ACADVL):c.57C>G (p.Gly19=)
|
|
|
NM_000018.4(ACADVL):c.586G>C (p.Ala196Pro)
|
|
|
NM_000018.4(ACADVL):c.591G>C (p.Gln197His)
|
rs2071233301
|
|
NM_000018.4(ACADVL):c.592A>G (p.Lys198Glu)
|
rs2071233392
|
|
NM_000018.4(ACADVL):c.59G>A (p.Gly20Glu)
|
|
|
NM_000018.4(ACADVL):c.605T>A (p.Leu202His)
|
rs398123090
|
|
NM_000018.4(ACADVL):c.608C>T (p.Pro203Leu)
|
|
|
NM_000018.4(ACADVL):c.612G>C (p.Lys204Asn)
|
|
|
NM_000018.4(ACADVL):c.614T>C (p.Leu205Pro)
|
rs1597525633
|
|
NM_000018.4(ACADVL):c.619T>C (p.Ser207Pro)
|
rs768975918
|
|
NM_000018.4(ACADVL):c.62+6T>C
|
rs1555527495
|
|
NM_000018.4(ACADVL):c.623-35C>A
|
rs1303764728
|
|
NM_000018.4(ACADVL):c.623-4A>G
|
rs977348928
|
|
NM_000018.4(ACADVL):c.623G>A (p.Gly208Glu)
|
rs2071251302
|
|
NM_000018.4(ACADVL):c.625G>C (p.Glu209Gln)
|
rs772055899
|
|
NM_000018.4(ACADVL):c.632T>C (p.Val211Ala)
|
|
|
NM_000018.4(ACADVL):c.638C>T (p.Ala213Val)
|
rs2071252145
|
|
NM_000018.4(ACADVL):c.640T>G (p.Phe214Val)
|
rs1192969297
|
|
NM_000018.4(ACADVL):c.644G>A (p.Cys215Tyr)
|
|
|
NM_000018.4(ACADVL):c.644G>C (p.Cys215Ser)
|
|
|
NM_000018.4(ACADVL):c.644G>T (p.Cys215Phe)
|
|
|
NM_000018.4(ACADVL):c.64T>C (p.Ser22Pro)
|
|
|
NM_000018.4(ACADVL):c.650C>T (p.Thr217Ile)
|
rs2071252808
|
|
NM_000018.4(ACADVL):c.651C>A (p.Thr217=)
|
|
|
NM_000018.4(ACADVL):c.65C>G (p.Ser22Trp)
|
rs727503788
|
|
NM_000018.4(ACADVL):c.65C>T (p.Ser22Leu)
|
|
|
NM_000018.4(ACADVL):c.678C>A (p.Ala226=)
|
rs372114185
|
|
NM_000018.4(ACADVL):c.682A>G (p.Ile228Val)
|
rs2071254536
|
|
NM_000018.4(ACADVL):c.682A>T (p.Ile228Phe)
|
rs2071254536
|
|
NM_000018.4(ACADVL):c.685C>G (p.Arg229Gly)
|
rs786204536
|
|
NM_000018.4(ACADVL):c.689C>T (p.Thr230Ile)
|
rs1241935771
|
|
NM_000018.4(ACADVL):c.68G>T (p.Arg23Leu)
|
rs34153370
|
|
NM_000018.4(ACADVL):c.697G>A (p.Val233Met)
|
|
|
NM_000018.4(ACADVL):c.705C>A (p.Ser235Arg)
|
rs2071256120
|
|
NM_000018.4(ACADVL):c.722A>G (p.Tyr241Cys)
|
rs575789958
|
|
NM_000018.4(ACADVL):c.734G>A (p.Gly245Glu)
|
rs762631117
|
|
NM_000018.4(ACADVL):c.736A>G (p.Ser246Gly)
|
rs1555528320
|
|
NM_000018.4(ACADVL):c.739A>C (p.Lys247Gln)
|
rs387906253
|
|
NM_000018.4(ACADVL):c.739A>G (p.Lys247Glu)
|
rs387906253
|
|
NM_000018.4(ACADVL):c.747G>C (p.Trp249Cys)
|
rs141167669
|
|
NM_000018.4(ACADVL):c.748A>G (p.Ile250Val)
|
|
|
NM_000018.4(ACADVL):c.752+6C>G
|
|
|
NM_000018.4(ACADVL):c.752+6C>T
|
|
|
NM_000018.4(ACADVL):c.753-27C>T
|
rs374911841
|
|
NM_000018.4(ACADVL):c.753-36C>T
|
|
|
NM_000018.4(ACADVL):c.753-5del
|
rs2071263119
|
|
NM_000018.4(ACADVL):c.753-6C>T
|
|
|
NM_000018.4(ACADVL):c.753-9C>T
|
rs1262931604
|
|
NM_000018.4(ACADVL):c.755A>G (p.Asn252Ser)
|
rs2071263384
|
|
NM_000018.4(ACADVL):c.757G>A (p.Gly253Arg)
|
rs1555528345
|
|
NM_000018.4(ACADVL):c.758G>A (p.Gly253Glu)
|
rs2071263753
|
|
NM_000018.4(ACADVL):c.759_761del (p.Gly254del)
|
rs1555528346
|
|
NM_000018.4(ACADVL):c.766G>C (p.Ala256Pro)
|
rs2071264273
|
|
NM_000018.4(ACADVL):c.769G>A (p.Asp257Asn)
|
|
|
NM_000018.4(ACADVL):c.770A>G (p.Asp257Gly)
|
|
|
NM_000018.4(ACADVL):c.770A>T (p.Asp257Val)
|
rs2071264623
|
|
NM_000018.4(ACADVL):c.773T>G (p.Ile258Ser)
|
rs1197133430
|
|
NM_000018.4(ACADVL):c.785T>C (p.Phe262Ser)
|
rs1597528061
|
|
NM_000018.4(ACADVL):c.786T>G (p.Phe262Leu)
|
rs777747704
|
|
NM_000018.4(ACADVL):c.79C>T (p.Leu27Phe)
|
rs1597516267
|
|
NM_000018.4(ACADVL):c.803C>T (p.Thr268Ile)
|
|
|
NM_000018.4(ACADVL):c.808C>T (p.Pro270Ser)
|
rs2071266963
|
|
NM_000018.4(ACADVL):c.809C>G (p.Pro270Arg)
|
|
|
NM_000018.4(ACADVL):c.811G>A (p.Ala271Thr)
|
rs2142977919
|
|
NM_000018.4(ACADVL):c.821C>T (p.Ala274Val)
|
|
|
NM_000018.4(ACADVL):c.826A>G (p.Lys276Glu)
|
|
|
NM_000018.4(ACADVL):c.829_831del (p.Glu277del)
|
rs796051913
|
|
NM_000018.4(ACADVL):c.833A>T (p.Lys278Met)
|
|
|
NM_000018.4(ACADVL):c.841G>C (p.Ala281Pro)
|
rs2142978096
|
|
NM_000018.4(ACADVL):c.845T>C (p.Phe282Ser)
|
rs2071268683
|
|
NM_000018.4(ACADVL):c.855G>C (p.Glu285Asp)
|
rs201509063
|
|
NM_000018.4(ACADVL):c.865G>C (p.Gly289Arg)
|
rs200788251
|
|
NM_000018.4(ACADVL):c.869G>A (p.Gly290Asp)
|
|
|
NM_000018.4(ACADVL):c.86G>A (p.Gly29Glu)
|
rs1247979958
|
|
NM_000018.4(ACADVL):c.877C>T (p.His293Tyr)
|
|
|
NM_000018.4(ACADVL):c.879-11C>G
|
rs1395957890
|
|
NM_000018.4(ACADVL):c.879-13T>A
|
|
|
NM_000018.4(ACADVL):c.879-14C>G
|
|
|
NM_000018.4(ACADVL):c.883C>T (p.Pro295Ser)
|
|
|
NM_000018.4(ACADVL):c.886C>T (p.Pro296Ser)
|
|
|
NM_000018.4(ACADVL):c.887C>T (p.Pro296Leu)
|
|
|
NM_000018.4(ACADVL):c.889G>A (p.Glu297Lys)
|
rs2071287310
|
|
NM_000018.4(ACADVL):c.889_891del (p.Glu297del)
|
rs796051914
|
|
NM_000018.4(ACADVL):c.891G>C (p.Glu297Asp)
|
rs2071287588
|
|
NM_000018.4(ACADVL):c.895A>G (p.Lys299Glu)
|
rs2142979869
|
|
NM_000018.4(ACADVL):c.896A>G (p.Lys299Arg)
|
rs771247610
|
|
NM_000018.4(ACADVL):c.897G>C (p.Lys299Asn)
|
|
|
NM_000018.4(ACADVL):c.898A>G (p.Met300Val)
|
rs1026112888
|
|
NM_000018.4(ACADVL):c.8C>T (p.Ala3Val)
|
|
|
NM_000018.4(ACADVL):c.901G>A (p.Gly301Ser)
|
rs199738655
|
|
NM_000018.4(ACADVL):c.904A>T (p.Ile302Phe)
|
rs2071288448
|
|
NM_000018.4(ACADVL):c.910G>A (p.Ala304Thr)
|
|
|
NM_000018.4(ACADVL):c.911C>T (p.Ala304Val)
|
rs1473375424
|
|
NM_000018.4(ACADVL):c.920C>G (p.Thr307Arg)
|
rs866743364
|
|
NM_000018.4(ACADVL):c.922G>A (p.Ala308Thr)
|
|
|
NM_000018.4(ACADVL):c.937G>C (p.Asp313His)
|
|
|
NM_000018.4(ACADVL):c.938_940del (p.Asp313del)
|
rs2142980046
|
|
NM_000018.4(ACADVL):c.944T>G (p.Val315Gly)
|
rs1555528469
|
|
NM_000018.4(ACADVL):c.949G>A (p.Val317Met)
|
rs1567565417
|
|
NM_000018.4(ACADVL):c.956C>T (p.Ser319Leu)
|
rs149467828
|
|
NM_000018.4(ACADVL):c.963C>A (p.Asn321Lys)
|
rs568118142
|
|
NM_000018.4(ACADVL):c.975G>C (p.Glu325Asp)
|
rs1271862153
|
|
NM_000018.4(ACADVL):c.976G>T (p.Val326Phe)
|
|
|
NM_000018.4(ACADVL):c.977T>C (p.Val326Ala)
|
rs1205407134
|
|
NM_000018.4(ACADVL):c.988T>C (p.Phe330Leu)
|
rs947624074
|
|
NM_000018.4(ACADVL):c.990C>G (p.Phe330Leu)
|
rs2071292084
|
|
NM_000018.4(ACADVL):c.997G>A (p.Ala333Thr)
|
rs2071292782
|
|
NM_000019.3(ACAT1):c.*234_*235delCT
|
rs1295289344
|
|
NM_000019.3(ACAT1):c.*467_*470dup
|
rs537463051
|
|
NM_000019.3(ACAT1):c.*668G>T
|
rs2077754843
|
|
NM_000019.3(ACAT1):c.*675A>C
|
rs886047605
|
|
NM_000019.3(ACAT1):c.*703T>C
|
rs188826374
|
|
NM_000019.4(ACAT1):c.*107dup
|
rs886047598
|
|
NM_000019.4(ACAT1):c.*123_*127dup
|
rs556749538
|
|
NM_000019.4(ACAT1):c.*55T>C
|
rs886047597
|
|
NM_000019.4(ACAT1):c.-22C>T
|
rs3741054
|
|
NM_000019.4(ACAT1):c.1006-10A>G
|
rs886047596
|
|
NM_000019.4(ACAT1):c.1018G>A (p.Val340Met)
|
|
|
NM_000019.4(ACAT1):c.1078G>A (p.Val360Ile)
|
|
|
NM_000019.4(ACAT1):c.1096A>G (p.Met366Val)
|
|
|
NM_000019.4(ACAT1):c.10C>G (p.Leu4Val)
|
rs774524997
|
|
NM_000019.4(ACAT1):c.1105A>G (p.Ile369Val)
|
rs1591374695
|
|
NM_000019.4(ACAT1):c.1183G>C (p.Val395Leu)
|
|
|
NM_000019.4(ACAT1):c.1200_1207del (p.His400fs)
|
rs1057520091
|
|
NM_000019.4(ACAT1):c.1207A>T (p.Lys403Ter)
|
|
|
NM_000019.4(ACAT1):c.121-3C>G
|
rs1591361919
|
|
NM_000019.4(ACAT1):c.1219T>C (p.Tyr407His)
|
|
|
NM_000019.4(ACAT1):c.1222G>C (p.Gly408Arg)
|
rs553101581
|
|
NM_000019.4(ACAT1):c.1240A>G (p.Asn414Asp)
|
rs2134798319
|
|
NM_000019.4(ACAT1):c.1253G>A (p.Gly418Asp)
|
rs886042080
|
|
NM_000019.4(ACAT1):c.1253_1255dup (p.Gly418dup)
|
rs2077741217
|
|
NM_000019.4(ACAT1):c.1269_1270dup (p.Ile424fs)
|
|
|
NM_000019.4(ACAT1):c.1277A>C (p.Lys426Thr)
|
rs2077742350
|
|
NM_000019.4(ACAT1):c.133G>C (p.Val45Leu)
|
|
|
NM_000019.4(ACAT1):c.140C>T (p.Ala47Val)
|
rs545826042
|
|
NM_000019.4(ACAT1):c.14C>T (p.Ala5Val)
|
|
|
NM_000019.4(ACAT1):c.15G>C (p.Ala5=)
|
rs886047594
|
|
NM_000019.4(ACAT1):c.163_167delinsAA (p.Phe55_Leu56delinsLys)
|
rs1591361995
|
|
NM_000019.4(ACAT1):c.200T>G (p.Leu67Arg)
|
|
|
NM_000019.4(ACAT1):c.209T>C (p.Ile70Thr)
|
|
|
NM_000019.4(ACAT1):c.239-7A>G
|
rs2077417069
|
|
NM_000019.4(ACAT1):c.248AAG[2] (p.Glu85del)
|
rs866364527
|
|
NM_000019.4(ACAT1):c.256G>T (p.Val86Leu)
|
rs1235436246
|
|
NM_000019.4(ACAT1):c.291A>T (p.Gly97=)
|
rs746216662
|
|
NM_000019.4(ACAT1):c.299G>A (p.Gly100Glu)
|
rs1591362472
|
|
NM_000019.4(ACAT1):c.29G>A (p.Ser10Asn)
|
rs886047595
|
|
NM_000019.4(ACAT1):c.301C>A (p.Gln101Lys)
|
rs1591362483
|
|
NM_000019.4(ACAT1):c.31G>A (p.Gly11Ser)
|
|
|
NM_000019.4(ACAT1):c.326T>G (p.Leu109Trp)
|
|
|
NM_000019.4(ACAT1):c.333A>G (p.Ala111=)
|
rs2135336477
|
|
NM_000019.4(ACAT1):c.340C>T (p.Pro114Ser)
|
|
|
NM_000019.4(ACAT1):c.355T>G (p.Cys119Gly)
|
|
|
NM_000019.4(ACAT1):c.394G>C (p.Ala132Pro)
|
|
|
NM_000019.4(ACAT1):c.405G>T (p.Met135Ile)
|
|
|
NM_000019.4(ACAT1):c.410C>T (p.Ser137Phe)
|
|
|
NM_000019.4(ACAT1):c.418C>T (p.Leu140Phe)
|
rs2077446791
|
|
NM_000019.4(ACAT1):c.435+4A>G
|
rs1424341036
|
|
NM_000019.4(ACAT1):c.436-15G>A
|
|
|
NM_000019.4(ACAT1):c.436-4G>C
|
rs3741050
|
|
NM_000019.4(ACAT1):c.436G>A (p.Asp146Asn)
|
rs2077523952
|
|
NM_000019.4(ACAT1):c.459G>A (p.Met153Ile)
|
|
|
NM_000019.4(ACAT1):c.460G>A (p.Glu154Lys)
|
rs1198149157
|
|
NM_000019.4(ACAT1):c.475G>A (p.Val159Ile)
|
|
|
NM_000019.4(ACAT1):c.483T>C (p.Tyr161=)
|
rs1591367485
|
|
NM_000019.4(ACAT1):c.49C>T (p.Pro17Ser)
|
|
|
NM_000019.4(ACAT1):c.527A>G (p.Glu176Gly)
|
|
|
NM_000019.4(ACAT1):c.534G>T (p.Leu178Phe)
|
rs1320114846
|
|
NM_000019.4(ACAT1):c.575A>G (p.His192Arg)
|
rs2077528154
|
|
NM_000019.4(ACAT1):c.592G>A (p.Glu198Lys)
|
|
|
NM_000019.4(ACAT1):c.602C>T (p.Ala201Val)
|
rs1591368724
|
|
NM_000019.4(ACAT1):c.622C>G (p.Arg208Gly)
|
rs532190594
|
|
NM_000019.4(ACAT1):c.664A>C (p.Ser222Arg)
|
rs1591368826
|
|
NM_000019.4(ACAT1):c.670G>C (p.Ala224Pro)
|
rs2134761406
|
|
NM_000019.4(ACAT1):c.707T>C (p.Ile236Thr)
|
|
|
NM_000019.4(ACAT1):c.71A>C (p.Gln24Pro)
|
rs2077152202
|
|
NM_000019.4(ACAT1):c.72+6C>A
|
|
|
NM_000019.4(ACAT1):c.730+6G>C
|
|
|
NM_000019.4(ACAT1):c.742G>A (p.Val248Ile)
|
|
|
NM_000019.4(ACAT1):c.744_746del (p.Val250del)
|
|
|
NM_000019.4(ACAT1):c.760G>A (p.Glu254Lys)
|
rs1591370241
|
|
NM_000019.4(ACAT1):c.764A>C (p.Glu255Ala)
|
rs1591370252
|
|
NM_000019.4(ACAT1):c.76A>G (p.Ile26Val)
|
|
|
NM_000019.4(ACAT1):c.826+3_826+6del
|
|
|
NM_000019.4(ACAT1):c.829A>C (p.Thr277Pro)
|
rs1591371019
|
|
NM_000019.4(ACAT1):c.838G>A (p.Ala280Thr)
|
rs1318357125
|
|
NM_000019.4(ACAT1):c.851G>A (p.Ser284Asn)
|
rs1591371045
|
|
NM_000019.4(ACAT1):c.854C>T (p.Thr285Ile)
|
rs1239221388
|
|
NM_000019.4(ACAT1):c.886A>T (p.Met296Leu)
|
|
|
NM_000019.4(ACAT1):c.921A>G (p.Thr307=)
|
rs2077610591
|
|
NM_000019.4(ACAT1):c.934A>G (p.Ile312Val)
|
|
|
NM_000019.4(ACAT1):c.941-13T>C
|
rs760991373
|
|
NM_000019.4(ACAT1):c.941-14_941-13insCT
|
rs1555034894
|
|
NM_000019.4(ACAT1):c.947_949dup (p.Ala316dup)
|
rs1591372596
|
|
NM_000019.4(ACAT1):c.976C>G (p.Pro326Ala)
|
|
|
NM_000019.4(ACAT1):c.983C>T (p.Ala328Val)
|
rs1057517702
|
|
NM_000026.4(ADSL):c.-10C>G
|
|
|
NM_000026.4(ADSL):c.-15G>A
|
|
|
NM_000026.4(ADSL):c.-18C>A
|
rs745531733
|
|
NM_000026.4(ADSL):c.-20G>T
|
rs1601542242
|
|
NM_000026.4(ADSL):c.-21T>A
|
|
|
NM_000026.4(ADSL):c.-27C>A
|
rs1294310669
|
|
NM_000026.4(ADSL):c.-29G>C
|
rs2044143205
|
|
NM_000026.4(ADSL):c.-35G>C
|
rs750649096
|
|
NM_000026.4(ADSL):c.-35G>T
|
rs750649096
|
|
NM_000026.4(ADSL):c.-37C>T
|
|
|
NM_000026.4(ADSL):c.-44C>G
|
rs763900902
|
|
NM_000026.4(ADSL):c.-51G>A
|
|
|
NM_000026.4(ADSL):c.1008C>G (p.Asn336Lys)
|
rs2146663691
|
|
NM_000026.4(ADSL):c.100T>C (p.Tyr34His)
|
rs1434292876
|
|
NM_000026.4(ADSL):c.1013G>T (p.Arg338Leu)
|
|
|
NM_000026.4(ADSL):c.1051A>G (p.Ile351Val)
|
rs2146667776
|
|
NM_000026.4(ADSL):c.1081G>A (p.Gly361Arg)
|
|
|
NM_000026.4(ADSL):c.1096C>G (p.Pro366Ala)
|
|
|
NM_000026.4(ADSL):c.10G>A (p.Gly4Arg)
|
rs2146612211
|
|
NM_000026.4(ADSL):c.1101+6_1101+8del
|
rs2146668021
|
|
NM_000026.4(ADSL):c.1102-6C>G
|
rs758666194
|
|
NM_000026.4(ADSL):c.1111C>T (p.Arg371Trp)
|
rs777359946
|
|
NM_000026.4(ADSL):c.1117A>G (p.Ile373Val)
|
|
|
NM_000026.4(ADSL):c.11G>C (p.Gly4Ala)
|
rs766546584
|
|
NM_000026.4(ADSL):c.1207A>C (p.Ile403Leu)
|
rs754714101
|
|
NM_000026.4(ADSL):c.1240G>T (p.Val414Phe)
|
rs2146673676
|
|
NM_000026.4(ADSL):c.1253G>A (p.Gly418Glu)
|
rs774693972
|
|
NM_000026.4(ADSL):c.1258G>A (p.Asp420Asn)
|
rs2044942817
|
|
NM_000026.4(ADSL):c.1261_1263del (p.Asn421del)
|
rs778107338
|
|
NM_000026.4(ADSL):c.1286T>C (p.Val429Ala)
|
|
|
NM_000026.4(ADSL):c.1295A>G (p.Tyr432Cys)
|
|
|
NM_000026.4(ADSL):c.1343C>G (p.Ser448Cys)
|
rs1265053994
|
|
NM_000026.4(ADSL):c.1349C>T (p.Thr450Ile)
|
rs372895468
|
|
NM_000026.4(ADSL):c.1354C>T (p.Arg452Cys)
|
rs572438339
|
|
NM_000026.4(ADSL):c.1358C>A (p.Ala453Asp)
|
rs2044948939
|
|
NM_000026.4(ADSL):c.1364dup (p.Gln456fs)
|
|
|
NM_000026.4(ADSL):c.1365G>T (p.Gln455His)
|
rs1011687452
|
|
NM_000026.4(ADSL):c.1368+4A>C
|
rs2146674336
|
|
NM_000026.4(ADSL):c.1368G>A (p.Gln456=)
|
|
|
NM_000026.4(ADSL):c.1369G>T (p.Val457Leu)
|
rs747385959
|
|
NM_000026.4(ADSL):c.1371dup (p.Gln458fs)
|
|
|
NM_000026.4(ADSL):c.1393G>C (p.Val465Leu)
|
rs1569104977
|
|
NM_000026.4(ADSL):c.1400C>G (p.Pro467Arg)
|
rs1057521071
|
|
NM_000026.4(ADSL):c.1405T>A (p.Leu469Ile)
|
rs768999974
|
|
NM_000026.4(ADSL):c.140C>T (p.Ala47Val)
|
rs759704594
|
|
NM_000026.4(ADSL):c.1422C>G (p.Ser474Arg)
|
rs748593655
|
|
NM_000026.4(ADSL):c.1423G>A (p.Val475Met)
|
rs1158489609
|
|
NM_000026.4(ADSL):c.1428G>A (p.Met476Ile)
|
rs773810168
|
|
NM_000026.4(ADSL):c.142G>A (p.Glu48Lys)
|
|
|
NM_000026.4(ADSL):c.1431_1436del (p.Val478_Lys479del)
|
|
|
NM_000026.4(ADSL):c.1443A>C (p.Glu481Asp)
|
rs1424823421
|
|
NM_000026.4(ADSL):c.1448G>A (p.Cys483Tyr)
|
rs371242331
|
|
NM_000026.4(ADSL):c.1454A>G (p.Ter485Trp)
|
|
|
NM_000026.4(ADSL):c.155C>A (p.Thr52Lys)
|
rs1380095056
|
|
NM_000026.4(ADSL):c.161G>A (p.Gly54Asp)
|
rs765813625
|
|
NM_000026.4(ADSL):c.173C>G (p.Thr58Arg)
|
rs544172142
|
|
NM_000026.4(ADSL):c.175G>A (p.Asp59Asn)
|
|
|
NM_000026.4(ADSL):c.17A>T (p.Asp6Val)
|
rs1314470860
|
|
NM_000026.4(ADSL):c.197A>C (p.Lys66Thr)
|
|
|
NM_000026.4(ADSL):c.197A>T (p.Lys66Ile)
|
rs796052251
|
|
NM_000026.4(ADSL):c.19C>G (p.His7Asp)
|
rs778590882
|
|
NM_000026.4(ADSL):c.216C>G (p.Ile72Met)
|
rs145786986
|
|
NM_000026.4(ADSL):c.217G>A (p.Asp73Asn)
|
rs745787396
|
|
NM_000026.4(ADSL):c.226A>C (p.Met76Leu)
|
rs145306334
|
|
NM_000026.4(ADSL):c.227T>C (p.Met76Thr)
|
|
|
NM_000026.4(ADSL):c.244A>C (p.Lys82Gln)
|
rs768958353
|
|
NM_000026.4(ADSL):c.248G>A (p.Arg83His)
|
|
|
NM_000026.4(ADSL):c.257A>G (p.His86Arg)
|
rs2044280567
|
|
NM_000026.4(ADSL):c.271C>T (p.His91Tyr)
|
rs755518176
|
|
NM_000026.4(ADSL):c.274G>T (p.Val92Leu)
|
rs763852823
|
|
NM_000026.4(ADSL):c.278A>G (p.His93Arg)
|
|
|
NM_000026.4(ADSL):c.28C>G (p.Pro10Ala)
|
rs768340455
|
|
NM_000026.4(ADSL):c.304G>T (p.Ala102Ser)
|
|
|
NM_000026.4(ADSL):c.319C>T (p.His107Tyr)
|
rs2146623366
|
|
NM_000026.4(ADSL):c.31G>C (p.Asp11His)
|
rs761759515
|
|
NM_000026.4(ADSL):c.328G>A (p.Ala110Thr)
|
|
|
NM_000026.4(ADSL):c.347G>A (p.Gly116Glu)
|
rs768596079
|
|
NM_000026.4(ADSL):c.357T>C (p.Thr119=)
|
rs2146623601
|
|
NM_000026.4(ADSL):c.36C>A (p.Ser12Arg)
|
rs773098808
|
|
NM_000026.4(ADSL):c.386A>G (p.Asp129Gly)
|
|
|
NM_000026.4(ADSL):c.402+6G>A
|
rs2146634344
|
|
NM_000026.4(ADSL):c.407C>T (p.Ala136Val)
|
rs1569091418
|
|
NM_000026.4(ADSL):c.41G>T (p.Arg14Leu)
|
rs371824098
|
|
NM_000026.4(ADSL):c.446G>A (p.Arg149Gln)
|
rs747546394
|
|
NM_000026.4(ADSL):c.449C>G (p.Ala150Gly)
|
|
|
NM_000026.4(ADSL):c.482+3A>T
|
|
|
NM_000026.4(ADSL):c.482+8A>G
|
rs886042606
|
|
NM_000026.4(ADSL):c.502G>A (p.Val168Ile)
|
rs1385675650
|
|
NM_000026.4(ADSL):c.511C>T (p.Arg171Cys)
|
|
|
NM_000026.4(ADSL):c.51T>A (p.Leu17=)
|
rs2146612540
|
|
NM_000026.4(ADSL):c.527T>C (p.Ile176Thr)
|
|
|
NM_000026.4(ADSL):c.541A>T (p.Met181Leu)
|
rs768542145
|
|
NM_000026.4(ADSL):c.543G>A (p.Met181Ile)
|
|
|
NM_000026.4(ADSL):c.568C>G (p.Arg190Gly)
|
|
|
NM_000026.4(ADSL):c.56C>T (p.Ser19Phe)
|
|
|
NM_000026.4(ADSL):c.572A>G (p.Asp191Gly)
|
|
|
NM_000026.4(ADSL):c.574G>T (p.Asp192Tyr)
|
|
|
NM_000026.4(ADSL):c.578T>C (p.Leu193Pro)
|
rs2044667301
|
|
NM_000026.4(ADSL):c.581G>A (p.Arg194His)
|
rs755359802
|
|
NM_000026.4(ADSL):c.590G>A (p.Gly197Glu)
|
rs2146653850
|
|
NM_000026.4(ADSL):c.5C>T (p.Ala2Val)
|
rs143083947
|
|
NM_000026.4(ADSL):c.608G>A (p.Gly203Asp)
|
rs2044668344
|
|
NM_000026.4(ADSL):c.611C>G (p.Thr204Ser)
|
rs745524617
|
|
NM_000026.4(ADSL):c.617C>G (p.Ala206Gly)
|
rs746848060
|
|
NM_000026.4(ADSL):c.618C>T (p.Ala206=)
|
|
|
NM_000026.4(ADSL):c.62A>G (p.Tyr21Cys)
|
|
|
NM_000026.4(ADSL):c.639G>T (p.Glu213Asp)
|
|
|
NM_000026.4(ADSL):c.644A>G (p.Asp215Gly)
|
rs1311483271
|
|
NM_000026.4(ADSL):c.649C>T (p.His217Tyr)
|
rs199761158
|
|
NM_000026.4(ADSL):c.655-42_655-8del
|
rs2146654480
|
|
NM_000026.4(ADSL):c.655G>A (p.Val219Ile)
|
rs1555907605
|
|
NM_000026.4(ADSL):c.655G>T (p.Val219Leu)
|
rs1555907605
|
|
NM_000026.4(ADSL):c.701+3A>G
|
|
|
NM_000026.4(ADSL):c.702-3T>A
|
rs1229114572
|
|
NM_000026.4(ADSL):c.712A>G (p.Ile238Val)
|
rs2146658688
|
|
NM_000026.4(ADSL):c.753_761del (p.Ser253_Leu255del)
|
rs769288234
|
|
NM_000026.4(ADSL):c.770G>A (p.Ser257Asn)
|
|
|
NM_000026.4(ADSL):c.779C>T (p.Ala260Val)
|
rs1601586537
|
|
NM_000026.4(ADSL):c.785T>C (p.Val262Ala)
|
rs2044740915
|
|
NM_000026.4(ADSL):c.792+5G>C
|
rs761153103
|
|
NM_000026.4(ADSL):c.793-3C>T
|
rs2044774129
|
|
NM_000026.4(ADSL):c.818C>T (p.Ala273Val)
|
rs962521087
|
|
NM_000026.4(ADSL):c.820A>G (p.Asn274Asp)
|
rs2146662052
|
|
NM_000026.4(ADSL):c.832A>G (p.Met278Val)
|
rs2044778052
|
|
NM_000026.4(ADSL):c.842C>T (p.Pro281Leu)
|
rs371529148
|
|
NM_000026.4(ADSL):c.845T>C (p.Phe282Ser)
|
rs2146662152
|
|
NM_000026.4(ADSL):c.859A>G (p.Ile287Val)
|
rs1209918065
|
|
NM_000026.4(ADSL):c.869G>A (p.Ser290Asn)
|
rs2044788172
|
|
NM_000026.4(ADSL):c.872C>T (p.Ala291Val)
|
rs2044788378
|
|
NM_000026.4(ADSL):c.891T>A (p.Asn297Lys)
|
rs2044789747
|
|
NM_000026.4(ADSL):c.898C>T (p.Arg300Cys)
|
rs369617680
|
|
NM_000026.4(ADSL):c.8C>G (p.Ala3Gly)
|
rs2044145822
|
|
NM_000026.4(ADSL):c.908G>A (p.Arg303His)
|
|
|
NM_000026.4(ADSL):c.913T>G (p.Cys305Gly)
|
rs2146663371
|
|
NM_000026.4(ADSL):c.916A>G (p.Ser306Gly)
|
rs1006262492
|
|
NM_000026.4(ADSL):c.919C>T (p.Leu307Phe)
|
rs2044790556
|
|
NM_000026.4(ADSL):c.946A>G (p.Met316Val)
|
rs2044791557
|
|
NM_000026.4(ADSL):c.962C>T (p.Thr321Ile)
|
rs1243449413
|
|
NM_000026.4(ADSL):c.974A>G (p.Gln325Arg)
|
rs1484677062
|
|
NM_000026.4(ADSL):c.978G>T (p.Trp326Cys)
|
rs1224557562
|
|
NM_000026.4(ADSL):c.979T>C (p.Phe327Leu)
|
|
|
NM_000026.4(ADSL):c.97A>C (p.Arg33=)
|
|
|
NM_000045.4(ARG1):c.*73A>G
|
rs886061062
|
|
NM_000045.4(ARG1):c.100G>T (p.Ala34Ser)
|
rs2114519325
|
|
NM_000045.4(ARG1):c.103G>A (p.Gly35Ser)
|
|
|
NM_000045.4(ARG1):c.104G>A (p.Gly35Asp)
|
|
|
NM_000045.4(ARG1):c.124_126del (p.Glu42del)
|
rs779949397
|
|
NM_000045.4(ARG1):c.128A>G (p.Gln43Arg)
|
|
|
NM_000045.4(ARG1):c.130+9_130+10insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGAACAAGGTAATTTTT
|
|
|
NM_000045.4(ARG1):c.130G>C (p.Glu44Gln)
|
rs1562354102
|
|
NM_000045.4(ARG1):c.131-10_131-9del
|
rs1160133142
|
|
NM_000045.4(ARG1):c.131-7_131-2del
|
rs768972828
|
|
NM_000045.4(ARG1):c.131-9dup
|
rs1160133142
|
|
NM_000045.4(ARG1):c.136G>A (p.Asp46Asn)
|
rs1773782658
|
|
NM_000045.4(ARG1):c.14C>G (p.Ser5Cys)
|
|
|
NM_000045.4(ARG1):c.16A>G (p.Arg6Gly)
|
rs1190948767
|
|
NM_000045.4(ARG1):c.19A>C (p.Thr7Pro)
|
rs989204710
|
|
NM_000045.4(ARG1):c.207T>G (p.Asn69Lys)
|
rs1554250510
|
|
NM_000045.4(ARG1):c.218T>G (p.Val73Gly)
|
rs867223787
|
|
NM_000045.4(ARG1):c.232G>A (p.Glu78Lys)
|
|
|
NM_000045.4(ARG1):c.237G>C (p.Gln79His)
|
|
|
NM_000045.4(ARG1):c.241G>A (p.Ala81Thr)
|
rs142107090
|
|
NM_000045.4(ARG1):c.241G>T (p.Ala81Ser)
|
|
|
NM_000045.4(ARG1):c.242C>T (p.Ala81Val)
|
|
|
NM_000045.4(ARG1):c.275G>T (p.Arg92Ile)
|
|
|
NM_000045.4(ARG1):c.306-1_307dup
|
|
|
NM_000045.4(ARG1):c.314T>C (p.Ile105Thr)
|
|
|
NM_000045.4(ARG1):c.314_317delinsATGC (p.Ile105_Gly106delinsAsnAla)
|
rs2114539256
|
|
NM_000045.4(ARG1):c.362T>C (p.Ile121Thr)
|
|
|
NM_000045.4(ARG1):c.364T>G (p.Trp122Gly)
|
|
|
NM_000045.4(ARG1):c.386T>C (p.Ile129Thr)
|
rs771165013
|
|
NM_000045.4(ARG1):c.422A>T (p.His141Leu)
|
rs1554250849
|
|
NM_000045.4(ARG1):c.435_437dup (p.Ser146_Phe147insSer)
|
rs1554250852
|
|
NM_000045.4(ARG1):c.440T>C (p.Phe147Ser)
|
|
|
NM_000045.4(ARG1):c.473A>G (p.Asp158Gly)
|
rs2114545404
|
|
NM_000045.4(ARG1):c.475G>C (p.Val159Leu)
|
rs1270108834
|
|
NM_000045.4(ARG1):c.4A>G (p.Ser2Gly)
|
|
|
NM_000045.4(ARG1):c.505A>G (p.Ile169Val)
|
|
|
NM_000045.4(ARG1):c.51G>C (p.Lys17Asn)
|
|
|
NM_000045.4(ARG1):c.533G>A (p.Gly178Asp)
|
|
|
NM_000045.4(ARG1):c.551C>A (p.Pro184His)
|
rs1773994839
|
|
NM_000045.4(ARG1):c.553G>C (p.Gly185Arg)
|
|
|
NM_000045.4(ARG1):c.560A>G (p.His187Arg)
|
rs2114546062
|
|
NM_000045.4(ARG1):c.562T>G (p.Tyr188Asp)
|
rs934942148
|
|
NM_000045.4(ARG1):c.566T>A (p.Ile189Asn)
|
rs886061061
|
|
NM_000045.4(ARG1):c.575_577dup (p.Thr192_Leu193insPro)
|
rs1554251136
|
|
NM_000045.4(ARG1):c.58-18T>A
|
|
|
NM_000045.4(ARG1):c.58-18T>C
|
|
|
NM_000045.4(ARG1):c.58-8T>C
|
|
|
NM_000045.4(ARG1):c.589T>C (p.Tyr197His)
|
|
|
NM_000045.4(ARG1):c.595T>G (p.Ser199Ala)
|
rs1313116151
|
|
NM_000045.4(ARG1):c.599_601del (p.Met200del)
|
rs1562360814
|
|
NM_000045.4(ARG1):c.59C>T (p.Pro20Leu)
|
rs766662245
|
|
NM_000045.4(ARG1):c.5G>T (p.Ser2Ile)
|
|
|
NM_000045.4(ARG1):c.61C>G (p.Arg21Gly)
|
rs104893944
|
|
NM_000045.4(ARG1):c.623T>C (p.Ile208Thr)
|
rs993784608
|
|
NM_000045.4(ARG1):c.646C>G (p.Leu216Val)
|
|
|
NM_000045.4(ARG1):c.646C>T (p.Leu216Phe)
|
|
|
NM_000045.4(ARG1):c.664A>G (p.Arg222Gly)
|
|
|
NM_000045.4(ARG1):c.666-18_666-14del
|
|
|
NM_000045.4(ARG1):c.668A>C (p.Lys223Thr)
|
rs1360594253
|
|
NM_000045.4(ARG1):c.673A>G (p.Arg225Gly)
|
|
|
NM_000045.4(ARG1):c.67G>T (p.Gly23Trp)
|
|
|
NM_000045.4(ARG1):c.700G>A (p.Asp234Asn)
|
rs1478297270
|
|
NM_000045.4(ARG1):c.709G>A (p.Asp237Asn)
|
rs764273304
|
|
NM_000045.4(ARG1):c.709G>C (p.Asp237His)
|
rs764273304
|
|
NM_000045.4(ARG1):c.709G>T (p.Asp237Tyr)
|
|
|
NM_000045.4(ARG1):c.70G>C (p.Val24Leu)
|
rs2114519104
|
|
NM_000045.4(ARG1):c.724C>T (p.Pro242Ser)
|
|
|
NM_000045.4(ARG1):c.742G>C (p.Val248Leu)
|
rs751567681
|
|
NM_000045.4(ARG1):c.745G>A (p.Val249Met)
|
rs182650447
|
|
NM_000045.4(ARG1):c.745G>C (p.Val249Leu)
|
rs182650447
|
|
NM_000045.4(ARG1):c.75A>G (p.Glu25=)
|
rs755973004
|
|
NM_000045.4(ARG1):c.760T>C (p.Tyr254His)
|
|
|
NM_000045.4(ARG1):c.767_769del (p.Glu256del)
|
rs1554251236
|
|
NM_000045.4(ARG1):c.769G>C (p.Gly257Arg)
|
rs372489226
|
|
NM_000045.4(ARG1):c.770G>T (p.Gly257Val)
|
|
|
NM_000045.4(ARG1):c.787G>A (p.Glu263Lys)
|
|
|
NM_000045.4(ARG1):c.789A>T (p.Glu263Asp)
|
|
|
NM_000045.4(ARG1):c.7G>A (p.Ala3Thr)
|
rs558377642
|
|
NM_000045.4(ARG1):c.7G>C (p.Ala3Pro)
|
rs558377642
|
|
NM_000045.4(ARG1):c.802+4G>C
|
|
|
NM_000045.4(ARG1):c.803-12TTG[2]
|
|
|
NM_000045.4(ARG1):c.803-14A>G
|
rs1774057954
|
|
NM_000045.4(ARG1):c.804G>C (p.Gly268=)
|
rs747275658
|
|
NM_000045.4(ARG1):c.80G>A (p.Gly27Asp)
|
rs1326930389
|
|
NM_000045.4(ARG1):c.827T>C (p.Met276Thr)
|
|
|
NM_000045.4(ARG1):c.832G>C (p.Val278Leu)
|
|
|
NM_000045.4(ARG1):c.839C>T (p.Pro280Leu)
|
|
|
NM_000045.4(ARG1):c.852G>C (p.Lys284Asn)
|
rs1774063052
|
|
NM_000045.4(ARG1):c.860AAG[1] (p.Glu288del)
|
rs1399124034
|
|
NM_000045.4(ARG1):c.862G>A (p.Glu288Lys)
|
rs932875709
|
|
NM_000045.4(ARG1):c.875C>G (p.Thr292Arg)
|
rs2114551376
|
|
NM_000045.4(ARG1):c.877G>C (p.Val293Leu)
|
|
|
NM_000045.4(ARG1):c.884C>A (p.Thr295Lys)
|
|
|
NM_000045.4(ARG1):c.892G>A (p.Ala298Thr)
|
rs755359126
|
|
NM_000045.4(ARG1):c.896T>A (p.Ile299Lys)
|
rs781676090
|
|
NM_000045.4(ARG1):c.913G>A (p.Gly305Arg)
|
rs866970619
|
|
NM_000045.4(ARG1):c.920C>T (p.Ala307Val)
|
|
|
NM_000045.4(ARG1):c.929G>T (p.Gly310Val)
|
|
|
NM_000045.4(ARG1):c.92T>G (p.Leu31Trp)
|
|
|
NM_000045.4(ARG1):c.934C>T (p.His312Tyr)
|
|
|
NM_000045.4(ARG1):c.936C>A (p.His312Gln)
|
rs776119677
|
|
NM_000045.4(ARG1):c.936C>T (p.His312=)
|
rs776119677
|
|
NM_000045.4(ARG1):c.939G>C (p.Lys313Asn)
|
rs1774069461
|
|
NM_000045.4(ARG1):c.943A>G (p.Ile315Val)
|
rs2114551786
|
|
NM_000045.4(ARG1):c.945dup (p.Asp316Ter)
|
rs1420954130
|
|
NM_000045.4(ARG1):c.956A>G (p.Asn319Ser)
|
rs147409787
|
|
NM_000045.4(ARG1):c.957C>A (p.Asn319Lys)
|
|
|
NM_000045.4(ARG1):c.959_962del (p.Pro320fs)
|
rs1554251368
|
|
NM_000048.4(ASL):c.-44+9G>A
|
rs558890925
|
|
NM_000048.4(ASL):c.1040C>T (p.Thr347Ile)
|
|
|
NM_000048.4(ASL):c.1049T>C (p.Ile350Thr)
|
|
|
NM_000048.4(ASL):c.1063-14_1063-5del
|
|
|
NM_000048.4(ASL):c.1077C>G (p.Asn359Lys)
|
rs372785881
|
|
NM_000048.4(ASL):c.1079T>C (p.Met360Thr)
|
rs875989948
|
|
NM_000048.4(ASL):c.1080G>C (p.Met360Ile)
|
rs1786857910
|
|
NM_000048.4(ASL):c.1095C>T (p.Ser365=)
|
rs749559501
|
|
NM_000048.4(ASL):c.1102A>G (p.Met368Val)
|
rs1554328202
|
|
NM_000048.4(ASL):c.1143+6T>A
|
rs2115760756
|
|
NM_000048.4(ASL):c.115G>T (p.Val39Phe)
|
|
|
NM_000048.4(ASL):c.1164C>G (p.His388Gln)
|
rs75300185
|
|
NM_000048.4(ASL):c.1174G>A (p.Gly392Arg)
|
|
|
NM_000048.4(ASL):c.1218C>G (p.Asn406Lys)
|
rs2115764896
|
|
NM_000048.4(ASL):c.1279G>A (p.Val427Met)
|
|
|
NM_000048.4(ASL):c.1297A>C (p.Ser433Arg)
|
rs1554328459
|
|
NM_000048.4(ASL):c.1300G>T (p.Val434Leu)
|
rs773071023
|
|
NM_000048.4(ASL):c.131C>G (p.Ala44Gly)
|
rs2115691157
|
|
NM_000048.4(ASL):c.1334G>A (p.Arg445His)
|
|
|
NM_000048.4(ASL):c.1354A>T (p.Ile452Phe)
|
|
|
NM_000048.4(ASL):c.1358G>T (p.Arg453Leu)
|
|
|
NM_000048.4(ASL):c.1382C>T (p.Ala461Val)
|
|
|
NM_000048.4(ASL):c.1395G>A (p.Ter465=)
|
rs1339615185
|
|
NM_000048.4(ASL):c.145C>A (p.Leu49Met)
|
|
|
NM_000048.4(ASL):c.207G>A (p.Lys69=)
|
rs886043007
|
|
NM_000048.4(ASL):c.229G>C (p.Gly77Arg)
|
|
|
NM_000048.4(ASL):c.231C>T (p.Gly77=)
|
rs2115694497
|
|
NM_000048.4(ASL):c.287T>C (p.Leu96Pro)
|
rs1483600747
|
|
NM_000048.4(ASL):c.291+3A>G
|
|
|
NM_000048.4(ASL):c.291G>A (p.Lys97=)
|
|
|
NM_000048.4(ASL):c.29G>A (p.Gly10Asp)
|
rs1786510603
|
|
NM_000048.4(ASL):c.385T>A (p.Cys129Ser)
|
|
|
NM_000048.4(ASL):c.388T>C (p.Ser130Pro)
|
|
|
NM_000048.4(ASL):c.398C>G (p.Ser133Trp)
|
|
|
NM_000048.4(ASL):c.398C>T (p.Ser133Leu)
|
|
|
NM_000048.4(ASL):c.400G>A (p.Gly134Ser)
|
rs2115700439
|
|
NM_000048.4(ASL):c.402C>A (p.Gly134=)
|
rs1308519514
|
|
NM_000048.4(ASL):c.404T>G (p.Leu135Arg)
|
rs1786559599
|
|
NM_000048.4(ASL):c.437G>A (p.Arg146Gln)
|
rs796051931
|
|
NM_000048.4(ASL):c.440C>A (p.Ala147Glu)
|
rs1786561465
|
|
NM_000048.4(ASL):c.446+3G>C
|
|
|
NM_000048.4(ASL):c.452G>A (p.Arg151His)
|
|
|
NM_000048.4(ASL):c.485A>G (p.Gln162Arg)
|
rs1554327025
|
|
NM_000048.4(ASL):c.486G>A (p.Gln162=)
|
rs1786669549
|
|
NM_000048.4(ASL):c.490G>C (p.Ala164Pro)
|
|
|
NM_000048.4(ASL):c.503G>A (p.Arg168His)
|
rs727503811
|
|
NM_000048.4(ASL):c.521T>C (p.Leu174Pro)
|
rs2115724599
|
|
NM_000048.4(ASL):c.530C>G (p.Ala177Gly)
|
rs2115725413
|
|
NM_000048.4(ASL):c.571C>G (p.Arg191Gly)
|
rs143508372
|
|
NM_000048.4(ASL):c.586G>A (p.Val196Ile)
|
|
|
NM_000048.4(ASL):c.5C>A (p.Ala2Asp)
|
|
|
NM_000048.4(ASL):c.655+5G>A
|
|
|
NM_000048.4(ASL):c.671C>T (p.Ala224Val)
|
rs2115733053
|
|
NM_000048.4(ASL):c.675C>G (p.Ile225Met)
|
rs1554327265
|
|
NM_000048.4(ASL):c.686G>C (p.Ser229Thr)
|
rs1554327272
|
|
NM_000048.4(ASL):c.697A>T (p.Thr233Ser)
|
|
|
NM_000048.4(ASL):c.698C>G (p.Thr233Ser)
|
rs1229119110
|
|
NM_000048.4(ASL):c.717G>A (p.Val239=)
|
|
|
NM_000048.4(ASL):c.718+5G>A
|
rs869312990
|
|
NM_000048.4(ASL):c.736G>A (p.Ala246Thr)
|
|
|
NM_000048.4(ASL):c.746G>T (p.Cys249Phe)
|
rs2115739143
|
|
NM_000048.4(ASL):c.785T>C (p.Leu262Pro)
|
rs1554327586
|
|
NM_000048.4(ASL):c.811G>T (p.Val271Leu)
|
|
|
NM_000048.4(ASL):c.834-5C>A
|
|
|
NM_000048.4(ASL):c.837G>A (p.Thr279=)
|
|
|
NM_000048.4(ASL):c.871G>A (p.Asp291Asn)
|
|
|
NM_000048.4(ASL):c.907G>A (p.Val303Met)
|
|
|
NM_000048.4(ASL):c.916C>T (p.Arg306Trp)
|
rs868834862
|
|
NM_000048.4(ASL):c.917G>C (p.Arg306Pro)
|
rs755245694
|
|
NM_000048.4(ASL):c.928C>T (p.Leu310Phe)
|
rs1168345442
|
|
NM_000048.4(ASL):c.944A>G (p.Lys315Arg)
|
|
|
NM_000048.4(ASL):c.94C>T (p.Arg32Trp)
|
|
|
NM_000048.4(ASL):c.966_974dup (p.Asp324_Leu325insPheLysAsp)
|
rs2115743637
|
|
NM_000048.4(ASL):c.978+5G>A
|
|
|
NM_000048.4(ASL):c.979-3C>T
|
|
|
NM_000048.4(ASL):c.99C>G (p.His33Gln)
|
rs142077823
|
|
NM_000071.2(CBS):c.-242T>C
|
rs1983687076
|
|
NM_000071.3(CBS):c.*132G>C
|
rs550053103
|
|
NM_000071.3(CBS):c.*140G>A
|
rs544806265
|
|
NM_000071.3(CBS):c.*19G>A
|
rs1555869794
|
|
NM_000071.3(CBS):c.*19G>C
|
rs1555869794
|
|
NM_000071.3(CBS):c.*20T>C
|
rs1555869789
|
|
NM_000071.3(CBS):c.*286A>G
|
rs998021241
|
|
NM_000071.3(CBS):c.*296T>C
|
rs4987122
|
|
NM_000071.3(CBS):c.*305T>C
|
rs1202078818
|
|
NM_000071.3(CBS):c.*394C>T
|
rs1175113287
|
|
NM_000071.3(CBS):c.*409G>A
|
rs571374721
|
|
NM_000071.3(CBS):c.*409G>T
|
rs571374721
|
|
NM_000071.3(CBS):c.*472C>T
|
rs886057096
|
|
NM_000071.3(CBS):c.*55_*57del
|
rs886057097
|
|
NM_000071.3(CBS):c.*592T>A
|
rs866356348
|
|
NM_000071.3(CBS):c.*80C>T
|
rs141447394
|
|
NM_000071.3(CBS):c.-50dup
|
rs886057101
|
|
NM_000071.3(CBS):c.-81C>T
|
rs1983542635
|
|
NM_000071.3(CBS):c.-85+10G>C
|
rs886057102
|
|
NM_000071.3(CBS):c.-86_-85+13delinsTGAAGGGTACCGCGA
|
rs1568943606
|
|
NM_000071.3(CBS):c.1007G>C (p.Arg336Pro)
|
rs760417941
|
|
NM_000071.3(CBS):c.1009A>C (p.Met337Leu)
|
rs372822486
|
|
NM_000071.3(CBS):c.1017C>T (p.Ile339=)
|
rs773933333
|
|
NM_000071.3(CBS):c.1039+6T>G
|
rs1601349690
|
|
NM_000071.3(CBS):c.103G>A (p.Asp35Asn)
|
|
|
NM_000071.3(CBS):c.103G>T (p.Asp35Tyr)
|
|
|
NM_000071.3(CBS):c.1040G>C (p.Gly347Ala)
|
|
|
NM_000071.3(CBS):c.1061_1069del (p.Val354_Val356del)
|
rs863223436
|
|
NM_000071.3(CBS):c.1064C>T (p.Ala355Val)
|
rs772384826
|
|
NM_000071.3(CBS):c.106A>G (p.Lys36Glu)
|
rs904453895
|
|
NM_000071.3(CBS):c.1071C>T (p.Ala357=)
|
rs368206976
|
|
NM_000071.3(CBS):c.1076A>T (p.Lys359Met)
|
rs779940364
|
|
NM_000071.3(CBS):c.1080_1081delinsTA (p.Ala361Thr)
|
rs1555873407
|
|
NM_000071.3(CBS):c.1082C>T (p.Ala361Val)
|
rs370851632
|
|
NM_000071.3(CBS):c.1090_1098dup (p.Leu364_Glu366dup)
|
rs2146352325
|
|
NM_000071.3(CBS):c.1108T>C (p.Cys370Arg)
|
|
|
NM_000071.3(CBS):c.1114G>A (p.Val372Ile)
|
rs775354680
|
|
NM_000071.3(CBS):c.1114G>T (p.Val372Phe)
|
rs775354680
|
|
NM_000071.3(CBS):c.1141T>C (p.Tyr381His)
|
rs267606145
|
|
NM_000071.3(CBS):c.1146-3C>T
|
rs2146344469
|
|
NM_000071.3(CBS):c.1146-6C>T
|
rs1981696579
|
|
NM_000071.3(CBS):c.1148C>T (p.Thr383Ile)
|
rs1568924550
|
|
NM_000071.3(CBS):c.1162G>A (p.Asp388Asn)
|
|
|
NM_000071.3(CBS):c.1179G>T (p.Gln393His)
|
rs2146344173
|
|
NM_000071.3(CBS):c.1192A>G (p.Lys398Glu)
|
|
|
NM_000071.3(CBS):c.1194GGA[2] (p.Glu400del)
|
rs745438246
|
|
NM_000071.3(CBS):c.1195G>A (p.Glu399Lys)
|
rs1485255027
|
|
NM_000071.3(CBS):c.1208C>A (p.Thr403Lys)
|
rs886042297
|
|
NM_000071.3(CBS):c.1208C>T (p.Thr403Met)
|
rs886042297
|
|
NM_000071.3(CBS):c.1210_1212del (p.Glu404del)
|
rs1555872822
|
|
NM_000071.3(CBS):c.1212G>C (p.Glu404Asp)
|
|
|
NM_000071.3(CBS):c.1213A>C (p.Lys405Gln)
|
rs570121873
|
|
NM_000071.3(CBS):c.1213AAG[1] (p.Lys406del)
|
rs780555741
|
|
NM_000071.3(CBS):c.1237C>T (p.Arg413Cys)
|
rs767595472
|
|
NM_000071.3(CBS):c.1238G>A (p.Arg413His)
|
|
|
NM_000071.3(CBS):c.1252G>A (p.Gly418Ser)
|
rs1200734227
|
|
NM_000071.3(CBS):c.1265C>T (p.Pro422Leu)
|
rs28934892
|
|
NM_000071.3(CBS):c.1273G>C (p.Val425Leu)
|
|
|
NM_000071.3(CBS):c.1301C>A (p.Thr434Asn)
|
rs1555872506
|
|
NM_000071.3(CBS):c.1304T>C (p.Ile435Thr)
|
rs1282119406
|
|
NM_000071.3(CBS):c.1355C>T (p.Ala452Val)
|
|
|
NM_000071.3(CBS):c.1357G>T (p.Gly453Trp)
|
rs886057099
|
|
NM_000071.3(CBS):c.1358G>A (p.Gly453Glu)
|
rs886039146
|
|
NM_000071.3(CBS):c.1359G>C (p.Gly453=)
|
rs1307473439
|
|
NM_000071.3(CBS):c.1373T>C (p.Met458Thr)
|
|
|
NM_000071.3(CBS):c.1381C>T (p.Leu461Phe)
|
|
|
NM_000071.3(CBS):c.1382T>G (p.Leu461Arg)
|
|
|
NM_000071.3(CBS):c.13A>G (p.Thr5Ala)
|
rs2146429088
|
|
NM_000071.3(CBS):c.1424C>T (p.Pro475Leu)
|
|
|
NM_000071.3(CBS):c.1436T>C (p.Val479Ala)
|
rs886038933
|
|
NM_000071.3(CBS):c.1448T>C (p.Ile483Thr)
|
|
|
NM_000071.3(CBS):c.1451A>G (p.Tyr484Cys)
|
rs1555871913
|
|
NM_000071.3(CBS):c.1451A>T (p.Tyr484Phe)
|
rs1555871913
|
|
NM_000071.3(CBS):c.1453A>G (p.Lys485Glu)
|
rs886057098
|
|
NM_000071.3(CBS):c.1457A>G (p.Gln486Arg)
|
rs2146337741
|
|
NM_000071.3(CBS):c.1467+4C>T
|
rs1981503515
|
|
NM_000071.3(CBS):c.1467G>A (p.Gln489=)
|
|
|
NM_000071.3(CBS):c.1471C>T (p.Arg491Cys)
|
|
|
NM_000071.3(CBS):c.14C>A (p.Thr5Asn)
|
|
|
NM_000071.3(CBS):c.1507C>G (p.Leu503Val)
|
|
|
NM_000071.3(CBS):c.1514T>G (p.Met505Arg)
|
rs1981234989
|
|
NM_000071.3(CBS):c.1538A>G (p.His513Arg)
|
|
|
NM_000071.3(CBS):c.1552+5G>A
|
|
|
NM_000071.3(CBS):c.155G>A (p.Cys52Tyr)
|
rs779777933
|
|
NM_000071.3(CBS):c.1576C>A (p.Gln526Lys)
|
rs1555869958
|
|
NM_000071.3(CBS):c.1579C>T (p.Arg527Trp)
|
rs1455031864
|
|
NM_000071.3(CBS):c.1580G>A (p.Arg527Gln)
|
rs551198487
|
|
NM_000071.3(CBS):c.1597G>T (p.Val533Leu)
|
rs1568916218
|
|
NM_000071.3(CBS):c.1616T>C (p.Leu539Ser)
|
rs121964968
|
|
NM_000071.3(CBS):c.162G>A (p.Trp54Ter)
|
rs199948079
|
|
NM_000071.3(CBS):c.1633G>A (p.Ala545Thr)
|
|
|
NM_000071.3(CBS):c.1634C>T (p.Ala545Val)
|
rs754031824
|
|
NM_000071.3(CBS):c.1645G>A (p.Asp549Asn)
|
rs1980865900
|
|
NM_000071.3(CBS):c.1648C>A (p.Gln550Lys)
|
|
|
NM_000071.3(CBS):c.1654T>G (p.Ter552Gly)
|
|
|
NM_000071.3(CBS):c.1656A>C (p.Ter552Cys)
|
rs1365095601
|
|
NM_000071.3(CBS):c.170G>A (p.Gly57Asp)
|
rs1295461215
|
|
NM_000071.3(CBS):c.179C>T (p.Ala60Val)
|
rs765352771
|
|
NM_000071.3(CBS):c.184G>A (p.Glu62Lys)
|
|
|
NM_000071.3(CBS):c.209+5G>C
|
rs1555876750
|
|
NM_000071.3(CBS):c.209C>G (p.Pro70Arg)
|
|
|
NM_000071.3(CBS):c.233C>G (p.Pro78Arg)
|
rs786204608
|
|
NM_000071.3(CBS):c.23C>G (p.Ala8Gly)
|
|
|
NM_000071.3(CBS):c.23C>T (p.Ala8Val)
|
rs919403971
|
|
NM_000071.3(CBS):c.262C>G (p.Pro88Ala)
|
|
|
NM_000071.3(CBS):c.284T>C (p.Ile95Thr)
|
rs1347662650
|
|
NM_000071.3(CBS):c.28G>T (p.Val10Leu)
|
|
|
NM_000071.3(CBS):c.297C>G (p.Phe99Leu)
|
rs749697783
|
|
NM_000071.3(CBS):c.298G>A (p.Gly100Ser)
|
|
|
NM_000071.3(CBS):c.306G>C (p.Lys102Asn)
|
rs786204609
|
|
NM_000071.3(CBS):c.313C>G (p.Leu105Val)
|
rs1601375543
|
|
NM_000071.3(CBS):c.316+5G>C
|
rs1601375508
|
|
NM_000071.3(CBS):c.323A>G (p.Lys108Arg)
|
rs2146395442
|
|
NM_000071.3(CBS):c.344G>A (p.Gly115Asp)
|
|
|
NM_000071.3(CBS):c.349A>T (p.Ser117Cys)
|
rs1982753226
|
|
NM_000071.3(CBS):c.359A>G (p.Asp120Gly)
|
rs1982750491
|
|
NM_000071.3(CBS):c.381T>G (p.Ile127Met)
|
rs199824647
|
|
NM_000071.3(CBS):c.393G>C (p.Glu131Asp)
|
rs1555875351
|
|
NM_000071.3(CBS):c.394C>A (p.Arg132Ser)
|
rs140002610
|
|
NM_000071.3(CBS):c.400G>C (p.Gly134Arg)
|
rs147474549
|
|
NM_000071.3(CBS):c.421A>G (p.Thr141Ala)
|
rs2146393956
|
|
NM_000071.3(CBS):c.426T>G (p.Ile142Met)
|
|
|
NM_000071.3(CBS):c.430G>C (p.Glu144Gln)
|
rs121964966
|
|
NM_000071.3(CBS):c.450C>A (p.Thr150=)
|
|
|
NM_000071.3(CBS):c.450C>T (p.Thr150=)
|
rs750030593
|
|
NM_000071.3(CBS):c.451+20G>T
|
rs1057520922
|
|
NM_000071.3(CBS):c.451G>T (p.Gly151Trp)
|
rs373782713
|
|
NM_000071.3(CBS):c.457G>A (p.Gly153Arg)
|
rs745704046
|
|
NM_000071.3(CBS):c.469G>A (p.Ala157Thr)
|
rs199817801
|
|
NM_000071.3(CBS):c.493T>G (p.Cys165Gly)
|
rs1234354755
|
|
NM_000071.3(CBS):c.49C>A (p.His17Asn)
|
rs2146428735
|
|
NM_000071.3(CBS):c.502G>A (p.Val168Met)
|
rs121964970
|
|
NM_000071.3(CBS):c.518T>G (p.Met173Arg)
|
rs1982605960
|
|
NM_000071.3(CBS):c.52C>A (p.Arg18Ser)
|
rs201827340
|
|
NM_000071.3(CBS):c.530A>C (p.Lys177Thr)
|
|
|
NM_000071.3(CBS):c.532G>A (p.Val178Met)
|
rs370843514
|
|
NM_000071.3(CBS):c.539T>C (p.Val180Ala)
|
rs1555875010
|
|
NM_000071.3(CBS):c.542T>C (p.Leu181Pro)
|
|
|
NM_000071.3(CBS):c.544C>T (p.Arg182Trp)
|
|
|
NM_000071.3(CBS):c.554G>A (p.Gly185Glu)
|
|
|
NM_000071.3(CBS):c.56C>T (p.Ser19Leu)
|
|
|
NM_000071.3(CBS):c.581A>G (p.Asn194Ser)
|
|
|
NM_000071.3(CBS):c.596C>G (p.Ser199Cys)
|
rs1982554358
|
|
NM_000071.3(CBS):c.59G>A (p.Gly20Glu)
|
rs1983457688
|
|
NM_000071.3(CBS):c.612G>T (p.Val204=)
|
rs539670390
|
|
NM_000071.3(CBS):c.622T>C (p.Trp208Arg)
|
rs1060500683
|
|
NM_000071.3(CBS):c.624G>T (p.Trp208Cys)
|
rs774174074
|
|
NM_000071.3(CBS):c.626G>A (p.Arg209Gln)
|
rs781759129
|
|
NM_000071.3(CBS):c.626G>C (p.Arg209Pro)
|
|
|
NM_000071.3(CBS):c.636C>G (p.Asn212Lys)
|
rs2298758
|
|
NM_000071.3(CBS):c.638A>G (p.Glu213Gly)
|
|
|
NM_000071.3(CBS):c.650C>T (p.Ser217Phe)
|
rs1555874874
|
|
NM_000071.3(CBS):c.664C>T (p.Gln222Ter)
|
rs1568932262
|
|
NM_000071.3(CBS):c.667-14C>G
|
rs1388184910
|
|
NM_000071.3(CBS):c.667-3C>A
|
|
|
NM_000071.3(CBS):c.671G>A (p.Arg224His)
|
|
|
NM_000071.3(CBS):c.671G>T (p.Arg224Leu)
|
rs761647392
|
|
NM_000071.3(CBS):c.683A>G (p.Asn228Ser)
|
rs1555874803
|
|
NM_000071.3(CBS):c.685C>A (p.Pro229Thr)
|
rs375730175
|
|
NM_000071.3(CBS):c.698_699inv (p.Tyr233Cys)
|
|
|
NM_000071.3(CBS):c.709G>A (p.Ala237Thr)
|
|
|
NM_000071.3(CBS):c.710C>T (p.Ala237Val)
|
rs1568931765
|
|
NM_000071.3(CBS):c.731G>A (p.Cys244Tyr)
|
rs1982489718
|
|
NM_000071.3(CBS):c.737-10C>A
|
|
|
NM_000071.3(CBS):c.737-10C>G
|
|
|
NM_000071.3(CBS):c.741G>C (p.Lys247Asn)
|
rs746892057
|
|
NM_000071.3(CBS):c.745G>A (p.Asp249Asn)
|
rs767397847
|
|
NM_000071.3(CBS):c.748A>G (p.Met250Val)
|
rs777884368
|
|
NM_000071.3(CBS):c.748A>T (p.Met250Leu)
|
|
|
NM_000071.3(CBS):c.749T>A (p.Met250Lys)
|
rs1555874564
|
|
NM_000071.3(CBS):c.750G>A (p.Met250Ile)
|
rs863223431
|
|
NM_000071.3(CBS):c.750G>C (p.Met250Ile)
|
|
|
NM_000071.3(CBS):c.752T>C (p.Leu251Pro)
|
rs1176770868
|
|
NM_000071.3(CBS):c.753G>T (p.Leu251=)
|
rs2146375662
|
|
NM_000071.3(CBS):c.754G>A (p.Val252Met)
|
|
|
NM_000071.3(CBS):c.75G>T (p.Lys25Asn)
|
rs1484147890
|
|
NM_000071.3(CBS):c.761C>T (p.Ser254Leu)
|
|
|
NM_000071.3(CBS):c.763G>C (p.Val255Leu)
|
rs1982371715
|
|
NM_000071.3(CBS):c.808G>A (p.Glu270Lys)
|
|
|
NM_000071.3(CBS):c.808_810del (p.Glu270del)
|
rs760710691
|
|
NM_000071.3(CBS):c.817C>T (p.Pro273Ser)
|
rs2146374921
|
|
NM_000071.3(CBS):c.825C>T (p.Cys275=)
|
rs764638041
|
|
NM_000071.3(CBS):c.829-2dup
|
|
|
NM_000071.3(CBS):c.829-8C>G
|
rs750081937
|
|
NM_000071.3(CBS):c.838G>A (p.Val280Met)
|
rs1982225866
|
|
NM_000071.3(CBS):c.857T>C (p.Ile286Thr)
|
rs1060500681
|
|
NM_000071.3(CBS):c.862G>A (p.Ala288Thr)
|
rs141502207
|
|
NM_000071.3(CBS):c.862G>T (p.Ala288Ser)
|
rs141502207
|
|
NM_000071.3(CBS):c.866A>G (p.Glu289Gly)
|
rs1601352415
|
|
NM_000071.3(CBS):c.887C>G (p.Thr296Arg)
|
rs562530775
|
|
NM_000071.3(CBS):c.887C>T (p.Thr296Met)
|
rs562530775
|
|
NM_000071.3(CBS):c.938C>T (p.Thr313Met)
|
|
|
NM_000071.3(CBS):c.946G>A (p.Asp316Asn)
|
rs2146366197
|
|
NM_000071.3(CBS):c.954+5G>T
|
rs1568928886
|
|
NM_000071.3(CBS):c.954G>A (p.Thr318=)
|
rs776122644
|
|
NM_000071.3(CBS):c.955-3C>T
|
|
|
NM_000071.3(CBS):c.987G>C (p.Glu329Asp)
|
rs765151853
|
|
NM_000108.5(DLD):c.*1027T>G
|
rs372098056
|
|
NM_000108.5(DLD):c.*1088A>G
|
rs886061912
|
|
NM_000108.5(DLD):c.*1231A>G
|
rs2032385167
|
|
NM_000108.5(DLD):c.*167T>C
|
rs886061909
|
|
NM_000108.5(DLD):c.*374G>T
|
rs576270082
|
|
NM_000108.5(DLD):c.*498T>G
|
rs886061911
|
|
NM_000108.5(DLD):c.*898C>T
|
rs2032373871
|
|
NM_000108.5(DLD):c.-10C>T
|
rs1269120569
|
|
NM_000108.5(DLD):c.1006A>G (p.Arg336Gly)
|
rs776547214
|
|
NM_000108.5(DLD):c.1052A>G (p.Tyr351Cys)
|
|
|
NM_000108.5(DLD):c.1065T>G (p.Asp355Glu)
|
|
|
NM_000108.5(DLD):c.1148A>G (p.His383Arg)
|
|
|
NM_000108.5(DLD):c.118+12A>G
|
|
|
NM_000108.5(DLD):c.1212A>C (p.Lys404Asn)
|
|
|
NM_000108.5(DLD):c.1218A>C (p.Glu406Asp)
|
|
|
NM_000108.5(DLD):c.1236+5G>A
|
|
|
NM_000108.5(DLD):c.1313T>C (p.Met438Thr)
|
rs2032312825
|
|
NM_000108.5(DLD):c.1337C>T (p.Ser446Leu)
|
|
|
NM_000108.5(DLD):c.1343A>G (p.Asp448Gly)
|
|
|
NM_000108.5(DLD):c.1357G>A (p.Ala453Thr)
|
|
|
NM_000108.5(DLD):c.1373C>T (p.Pro458Leu)
|
|
|
NM_000108.5(DLD):c.13A>G (p.Ser5Gly)
|
|
|
NM_000108.5(DLD):c.140T>G (p.Ile47Arg)
|
|
|
NM_000108.5(DLD):c.1463del (p.Pro488fs)
|
rs1554400720
|
|
NM_000108.5(DLD):c.1464G>A (p.Pro488=)
|
|
|
NM_000108.5(DLD):c.1465-7C>G
|
rs886061908
|
|
NM_000108.5(DLD):c.1471T>C (p.Ser491Pro)
|
rs2032348536
|
|
NM_000108.5(DLD):c.1502C>T (p.Ala501Val)
|
|
|
NM_000108.5(DLD):c.1517C>T (p.Ser506Leu)
|
|
|
NM_000108.5(DLD):c.1528T>C (p.Ter510Arg)
|
rs1554400769
|
|
NM_000108.5(DLD):c.161A>T (p.Tyr54Phe)
|
|
|
NM_000108.5(DLD):c.163G>A (p.Val55Ile)
|
rs2116207217
|
|
NM_000108.5(DLD):c.191G>C (p.Gly64Ala)
|
rs2031883055
|
|
NM_000108.5(DLD):c.194T>A (p.Phe65Tyr)
|
|
|
NM_000108.5(DLD):c.217A>C (p.Asn73His)
|
rs796051949
|
|
NM_000108.5(DLD):c.267+15del
|
rs886061906
|
|
NM_000108.5(DLD):c.268-3T>A
|
rs2031928500
|
|
NM_000108.5(DLD):c.29C>T (p.Ser10Phe)
|
|
|
NM_000108.5(DLD):c.305A>T (p.His102Leu)
|
rs893865374
|
|
NM_000108.5(DLD):c.30C>A (p.Ser10=)
|
rs779166996
|
|
NM_000108.5(DLD):c.340T>G (p.Ser114Ala)
|
|
|
NM_000108.5(DLD):c.361G>A (p.Asp121Asn)
|
rs780305161
|
|
NM_000108.5(DLD):c.367A>G (p.Met123Val)
|
rs111352707
|
|
NM_000108.5(DLD):c.39+3G>C
|
rs2031564629
|
|
NM_000108.5(DLD):c.40-3T>A
|
|
|
NM_000108.5(DLD):c.40-3T>C
|
rs2116162419
|
|
NM_000108.5(DLD):c.439-6G>C
|
rs369208046
|
|
NM_000108.5(DLD):c.499G>A (p.Ala167Thr)
|
rs2116221690
|
|
NM_000108.5(DLD):c.511A>C (p.Thr171Pro)
|
|
|
NM_000108.5(DLD):c.520A>G (p.Ile174Val)
|
rs2031981415
|
|
NM_000108.5(DLD):c.53A>G (p.Asn18Ser)
|
|
|
NM_000108.5(DLD):c.542T>C (p.Ile181Thr)
|
rs1291809324
|
|
NM_000108.5(DLD):c.581C>T (p.Thr194Met)
|
|
|
NM_000108.5(DLD):c.58A>G (p.Ile20Val)
|
|
|
NM_000108.5(DLD):c.596C>A (p.Thr199Lys)
|
rs1336962180
|
|
NM_000108.5(DLD):c.597A>G (p.Thr199=)
|
rs768248572
|
|
NM_000108.5(DLD):c.656T>C (p.Ile219Thr)
|
rs2032006962
|
|
NM_000108.5(DLD):c.675_676inv (p.Val226Ile)
|
|
|
NM_000108.5(DLD):c.6G>C (p.Gln2His)
|
|
|
NM_000108.5(DLD):c.765G>A (p.Met255Ile)
|
|
|
NM_000108.5(DLD):c.787C>T (p.Arg263Cys)
|
|
|
NM_000108.5(DLD):c.79C>T (p.Leu27Phe)
|
rs2116162795
|
|
NM_000108.5(DLD):c.803A>G (p.Gln268Arg)
|
|
|
NM_000108.5(DLD):c.831G>T (p.Lys277Asn)
|
|
|
NM_000108.5(DLD):c.857A>G (p.Asp286Gly)
|
rs192349677
|
|
NM_000108.5(DLD):c.866T>C (p.Ile289Thr)
|
rs2116264648
|
|
NM_000108.5(DLD):c.884C>T (p.Ala295Val)
|
|
|
NM_000108.5(DLD):c.901G>C (p.Ala301Pro)
|
|
|
NM_000108.5(DLD):c.919G>A (p.Asp307Asn)
|
rs2032282601
|
|
NM_000108.5(DLD):c.966G>C (p.Leu322Phe)
|
|
|
NM_000108.5(DLD):c.991C>G (p.Leu331Val)
|
|
|
NM_000116.5(TAFAZZIN):c.*165T>A
|
rs2068620449
|
|
NM_000116.5(TAFAZZIN):c.*387C>T
|
rs1057515819
|
|
NM_000116.5(TAFAZZIN):c.*648A>C
|
rs1413243483
|
|
NM_000116.5(TAFAZZIN):c.100T>A (p.Phe34Ile)
|
|
|
NM_000116.5(TAFAZZIN):c.110-18C>T
|
|
|
NM_000116.5(TAFAZZIN):c.113A>G (p.Tyr38Cys)
|
|
|
NM_000116.5(TAFAZZIN):c.117G>A (p.Met39Ile)
|
|
|
NM_000116.5(TAFAZZIN):c.127A>T (p.Thr43Ser)
|
|
|
NM_000116.5(TAFAZZIN):c.145G>C (p.Val49Leu)
|
|
|
NM_000116.5(TAFAZZIN):c.149T>A (p.Leu50Gln)
|
|
|
NM_000116.5(TAFAZZIN):c.149T>C (p.Leu50Pro)
|
|
|
NM_000116.5(TAFAZZIN):c.154G>C (p.Glu52Gln)
|
|
|
NM_000116.5(TAFAZZIN):c.161T>A (p.Ile54Asn)
|
|
|
NM_000116.5(TAFAZZIN):c.162C>G (p.Ile54Met)
|
|
|
NM_000116.5(TAFAZZIN):c.179C>T (p.Ala60Val)
|
|
|
NM_000116.5(TAFAZZIN):c.182C>T (p.Thr61Met)
|
|
|
NM_000116.5(TAFAZZIN):c.184C>T (p.Pro62Ser)
|
rs2068328744
|
|
NM_000116.5(TAFAZZIN):c.18G>T (p.Lys6Asn)
|
|
|
NM_000116.5(TAFAZZIN):c.190A>C (p.Ile64Leu)
|
rs1322365208
|
|
NM_000116.5(TAFAZZIN):c.1A>G (p.Met1Val)
|
|
|
NM_000116.5(TAFAZZIN):c.205C>A (p.His69Asn)
|
rs2068329796
|
|
NM_000116.5(TAFAZZIN):c.211T>C (p.Ser71Pro)
|
|
|
NM_000116.5(TAFAZZIN):c.212C>T (p.Ser71Phe)
|
rs2068330347
|
|
NM_000116.5(TAFAZZIN):c.222C>G (p.Asp74Glu)
|
|
|
NM_000116.5(TAFAZZIN):c.227C>T (p.Pro76Leu)
|
rs878853654
|
|
NM_000116.5(TAFAZZIN):c.230A>G (p.His77Arg)
|
rs794729173
|
|
NM_000116.5(TAFAZZIN):c.233T>A (p.Leu78His)
|
|
|
NM_000116.5(TAFAZZIN):c.238+6C>T
|
rs781786197
|
|
NM_000116.5(TAFAZZIN):c.245T>C (p.Leu82Pro)
|
|
|
NM_000116.5(TAFAZZIN):c.250C>T (p.Leu84Phe)
|
|
|
NM_000116.5(TAFAZZIN):c.284+3G>C
|
rs1569552708
|
|
NM_000116.5(TAFAZZIN):c.284+4A>T
|
rs1603377638
|
|
NM_000116.5(TAFAZZIN):c.284+5G>A
|
|
|
NM_000116.5(TAFAZZIN):c.28C>T (p.Pro10Ser)
|
|
|
NM_000116.5(TAFAZZIN):c.299C>T (p.Ala100Val)
|
rs1569552722
|
|
NM_000116.5(TAFAZZIN):c.29C>G (p.Pro10Arg)
|
rs781941217
|
|
NM_000116.5(TAFAZZIN):c.302A>T (p.Asp101Val)
|
|
|
NM_000116.5(TAFAZZIN):c.308G>A (p.Cys103Tyr)
|
|
|
NM_000116.5(TAFAZZIN):c.310T>G (p.Phe104Val)
|
|
|
NM_000116.5(TAFAZZIN):c.314C>T (p.Thr105Ile)
|
|
|
NM_000116.5(TAFAZZIN):c.322C>A (p.Leu108Ile)
|
|
|
NM_000116.5(TAFAZZIN):c.328T>C (p.Ser110Pro)
|
rs397515739
|
|
NM_000116.5(TAFAZZIN):c.334T>C (p.Phe112Leu)
|
rs1281729528
|
|
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp)
|
rs727504327
|
|
NM_000116.5(TAFAZZIN):c.349A>G (p.Lys117Glu)
|
|
|
NM_000116.5(TAFAZZIN):c.352T>C (p.Cys118Arg)
|
rs104894937
|
|
NM_000116.5(TAFAZZIN):c.368G>C (p.Arg123Pro)
|
|
|
NM_000116.5(TAFAZZIN):c.370+2T>A
|
|
|
NM_000116.5(TAFAZZIN):c.370G>A (p.Gly124Arg)
|
|
|
NM_000116.5(TAFAZZIN):c.371G>A (p.Gly124Glu)
|
|
|
NM_000116.5(TAFAZZIN):c.379T>G (p.Phe127Val)
|
|
|
NM_000116.5(TAFAZZIN):c.37C>T (p.Pro13Ser)
|
|
|
NM_000116.5(TAFAZZIN):c.380T>G (p.Phe127Cys)
|
rs2068411768
|
|
NM_000116.5(TAFAZZIN):c.385C>T (p.Gln129Ter)
|
|
|
NM_000116.5(TAFAZZIN):c.394A>T (p.Asn132Tyr)
|
|
|
NM_000116.5(TAFAZZIN):c.3G>A (p.Met1Ile)
|
|
|
NM_000116.5(TAFAZZIN):c.409G>A (p.Val137Ile)
|
rs2068412679
|
|
NM_000116.5(TAFAZZIN):c.412C>G (p.Leu138Val)
|
|
|
NM_000116.5(TAFAZZIN):c.416A>T (p.Asp139Val)
|
rs1603378339
|
|
NM_000116.5(TAFAZZIN):c.425_428del (p.Arg142fs)
|
rs782253789
|
|
NM_000116.5(TAFAZZIN):c.429C>G (p.His143Gln)
|
|
|
NM_000116.5(TAFAZZIN):c.460G>A (p.Gly154Arg)
|
rs2068414496
|
|
NM_000116.5(TAFAZZIN):c.461-10_461-5del
|
|
|
NM_000116.5(TAFAZZIN):c.461-3C>A
|
|
|
NM_000116.5(TAFAZZIN):c.47C>G (p.Thr16Ser)
|
rs1227132566
|
|
NM_000116.5(TAFAZZIN):c.481G>A (p.Gly161Arg)
|
|
|
NM_000116.5(TAFAZZIN):c.49T>C (p.Trp17Arg)
|
rs2068313278
|
|
NM_000116.5(TAFAZZIN):c.504G>A (p.Lys168=)
|
rs1057515818
|
|
NM_000116.5(TAFAZZIN):c.517G>A (p.Asp173Asn)
|
|
|
NM_000116.5(TAFAZZIN):c.51G>T (p.Trp17Cys)
|
rs1603376560
|
|
NM_000116.5(TAFAZZIN):c.524T>G (p.Val175Gly)
|
|
|
NM_000116.5(TAFAZZIN):c.533T>C (p.Phe178Ser)
|
|
|
NM_000116.5(TAFAZZIN):c.53C>T (p.Thr18Ile)
|
|
|
NM_000116.5(TAFAZZIN):c.541+13_541+28del
|
|
|
NM_000116.5(TAFAZZIN):c.541+5G>A
|
rs2068571041
|
|
NM_000116.5(TAFAZZIN):c.541G>A (p.Gly181Arg)
|
|
|
NM_000116.5(TAFAZZIN):c.542-3C>T
|
|
|
NM_000116.5(TAFAZZIN):c.542G>A (p.Gly181Glu)
|
rs2068574531
|
|
NM_000116.5(TAFAZZIN):c.549G>T (p.Val183=)
|
|
|
NM_000116.5(TAFAZZIN):c.553A>G (p.Met185Val)
|
|
|
NM_000116.5(TAFAZZIN):c.572G>C (p.Arg191Pro)
|
|
|
NM_000116.5(TAFAZZIN):c.578A>T (p.Lys193Met)
|
|
|
NM_000116.5(TAFAZZIN):c.583+5G>A
|
|
|
NM_000116.5(TAFAZZIN):c.583G>A (p.Gly195Arg)
|
rs878853656
|
|
NM_000116.5(TAFAZZIN):c.584G>A (p.Gly195Glu)
|
|
|
NM_000116.5(TAFAZZIN):c.590G>A (p.Gly197Glu)
|
rs397515746
|
|
NM_000116.5(TAFAZZIN):c.608G>A (p.Cys203Tyr)
|
|
|
NM_000116.5(TAFAZZIN):c.611A>G (p.His204Arg)
|
|
|
NM_000116.5(TAFAZZIN):c.613C>A (p.Leu205Ile)
|
|
|
NM_000116.5(TAFAZZIN):c.626T>A (p.Ile209Asn)
|
|
|
NM_000116.5(TAFAZZIN):c.632C>A (p.Pro211His)
|
rs2148212627
|
|
NM_000116.5(TAFAZZIN):c.635T>C (p.Leu212Pro)
|
|
|
NM_000116.5(TAFAZZIN):c.645C>T (p.Val215=)
|
|
|
NM_000116.5(TAFAZZIN):c.647-6C>T
|
rs901353067
|
|
NM_000116.5(TAFAZZIN):c.647G>A (p.Gly216Glu)
|
rs727504431
|
|
NM_000116.5(TAFAZZIN):c.657C>G (p.Asp219Glu)
|
rs140751478
|
|
NM_000116.5(TAFAZZIN):c.658G>A (p.Val220Ile)
|
|
|
NM_000116.5(TAFAZZIN):c.682T>C (p.Phe228Leu)
|
|
|
NM_000116.5(TAFAZZIN):c.688C>T (p.Arg230Cys)
|
|
|
NM_000116.5(TAFAZZIN):c.699+6T>G
|
|
|
NM_000116.5(TAFAZZIN):c.700-13G>A
|
|
|
NM_000116.5(TAFAZZIN):c.702A>G (p.Lys234=)
|
|
|
NM_000116.5(TAFAZZIN):c.705C>G (p.Ile235Met)
|
|
|
NM_000116.5(TAFAZZIN):c.707C>T (p.Thr236Ile)
|
|
|
NM_000116.5(TAFAZZIN):c.725C>T (p.Pro242Leu)
|
|
|
NM_000116.5(TAFAZZIN):c.727T>A (p.Phe243Ile)
|
|
|
NM_000116.5(TAFAZZIN):c.745C>A (p.Leu249Ile)
|
|
|
NM_000116.5(TAFAZZIN):c.751C>G (p.Arg251Gly)
|
rs372689133
|
|
NM_000116.5(TAFAZZIN):c.752G>A (p.Arg251Gln)
|
|
|
NM_000116.5(TAFAZZIN):c.754_763del (p.Leu252fs)
|
rs1557194381
|
|
NM_000116.5(TAFAZZIN):c.757C>T (p.Arg253Trp)
|
rs2068605582
|
|
NM_000116.5(TAFAZZIN):c.773C>T (p.Ser258Leu)
|
rs2068606445
|
|
NM_000116.5(TAFAZZIN):c.776C>T (p.Ala259Val)
|
|
|
NM_000116.5(TAFAZZIN):c.777+3G>A
|
rs2068606988
|
|
NM_000116.5(TAFAZZIN):c.777+6T>C
|
rs782175712
|
|
NM_000116.5(TAFAZZIN):c.788G>A (p.Arg263Gln)
|
|
|
NM_000116.5(TAFAZZIN):c.790A>G (p.Lys264Glu)
|
rs1557194488
|
|
NM_000116.5(TAFAZZIN):c.800C>T (p.Thr267Met)
|
rs1557194504
|
|
NM_000116.5(TAFAZZIN):c.811C>T (p.Gln271Ter)
|
rs1298362744
|
|
NM_000116.5(TAFAZZIN):c.812A>C (p.Gln271Pro)
|
|
|
NM_000116.5(TAFAZZIN):c.823C>T (p.Gln275Ter)
|
rs397515750
|
|
NM_000116.5(TAFAZZIN):c.836C>T (p.Thr279Ile)
|
|
|
NM_000116.5(TAFAZZIN):c.843_850del (p.Glu282fs)
|
|
|
NM_000116.5(TAFAZZIN):c.849G>C (p.Gln283His)
|
rs1025920600
|
|
NM_000116.5(TAFAZZIN):c.855C>A (p.His285Gln)
|
|
|
NM_000116.5(TAFAZZIN):c.85G>C (p.Gly29Arg)
|
|
|
NM_000116.5(TAFAZZIN):c.89C>T (p.Thr30Ile)
|
rs2068315101
|
|
NM_000116.5(TAFAZZIN):c.92A>G (p.Tyr31Cys)
|
|
|
NM_000126.4(ETFA):c.*55C>G
|
rs886051487
|
|
NM_000126.4(ETFA):c.-11_16del (p.Met1_Ala6del)
|
|
|
NM_000126.4(ETFA):c.-42C>T
|
rs546128998
|
|
NM_000126.4(ETFA):c.-71T>G
|
rs116149551
|
|
NM_000126.4(ETFA):c.100G>A (p.Ala34Thr)
|
|
|
NM_000126.4(ETFA):c.136C>T (p.Arg46Cys)
|
|
|
NM_000126.4(ETFA):c.163G>A (p.Val55Ile)
|
rs1035217923
|
|
NM_000126.4(ETFA):c.170G>T (p.Gly57Val)
|
|
|
NM_000126.4(ETFA):c.178T>G (p.Cys60Gly)
|
|
|
NM_000126.4(ETFA):c.187-3T>C
|
|
|
NM_000126.4(ETFA):c.218T>C (p.Ile73Thr)
|
rs2039778846
|
|
NM_000126.4(ETFA):c.242A>C (p.His81Pro)
|
|
|
NM_000126.4(ETFA):c.245A>T (p.Asp82Val)
|
|
|
NM_000126.4(ETFA):c.263T>C (p.Leu88Pro)
|
rs1400343293
|
|
NM_000126.4(ETFA):c.265C>T (p.Pro89Ser)
|
rs2039778041
|
|
NM_000126.4(ETFA):c.269-8A>G
|
rs1440046169
|
|
NM_000126.4(ETFA):c.295A>G (p.Thr99Ala)
|
|
|
NM_000126.4(ETFA):c.300G>T (p.Gln100His)
|
rs948361766
|
|
NM_000126.4(ETFA):c.323T>A (p.Ile108Asn)
|
rs1414148078
|
|
NM_000126.4(ETFA):c.323T>C (p.Ile108Thr)
|
|
|
NM_000126.4(ETFA):c.32G>A (p.Arg11Gln)
|
|
|
NM_000126.4(ETFA):c.334G>A (p.Ala112Thr)
|
|
|
NM_000126.4(ETFA):c.334G>T (p.Ala112Ser)
|
|
|
NM_000126.4(ETFA):c.345C>A (p.Phe115Leu)
|
|
|
NM_000126.4(ETFA):c.351+12G>A
|
rs2039773989
|
|
NM_000126.4(ETFA):c.351+9G>A
|
rs2039774067
|
|
NM_000126.4(ETFA):c.366A>G (p.Arg122=)
|
rs2039718120
|
|
NM_000126.4(ETFA):c.367G>A (p.Val123Ile)
|
rs886051489
|
|
NM_000126.4(ETFA):c.36G>A (p.Arg12=)
|
rs1299355915
|
|
NM_000126.4(ETFA):c.379C>T (p.Leu127Phe)
|
rs910012804
|
|
NM_000126.4(ETFA):c.388G>A (p.Ala130Thr)
|
|
|
NM_000126.4(ETFA):c.405C>G (p.Ile135Met)
|
|
|
NM_000126.4(ETFA):c.431T>C (p.Phe144Ser)
|
rs755055339
|
|
NM_000126.4(ETFA):c.461T>C (p.Leu154Pro)
|
rs1286837897
|
|
NM_000126.4(ETFA):c.467C>T (p.Thr156Ile)
|
rs199597352
|
|
NM_000126.4(ETFA):c.481G>A (p.Glu161Lys)
|
|
|
NM_000126.4(ETFA):c.521A>C (p.Asp174Ala)
|
rs1396125343
|
|
NM_000126.4(ETFA):c.521A>G (p.Asp174Gly)
|
|
|
NM_000126.4(ETFA):c.53G>A (p.Arg18Gln)
|
|
|
NM_000126.4(ETFA):c.560A>G (p.Lys187Arg)
|
rs2141531541
|
|
NM_000126.4(ETFA):c.592G>C (p.Glu198Gln)
|
rs2141530756
|
|
NM_000126.4(ETFA):c.625C>G (p.Arg209Gly)
|
rs199763682
|
|
NM_000126.4(ETFA):c.631G>A (p.Glu211Lys)
|
|
|
NM_000126.4(ETFA):c.63T>G (p.Ser21Arg)
|
rs1596224387
|
|
NM_000126.4(ETFA):c.668G>A (p.Arg223Gln)
|
|
|
NM_000126.4(ETFA):c.66C>T (p.Thr22=)
|
rs370375322
|
|
NM_000126.4(ETFA):c.682G>A (p.Gly228Arg)
|
rs1390694827
|
|
NM_000126.4(ETFA):c.683G>A (p.Gly228Glu)
|
|
|
NM_000126.4(ETFA):c.69_140del (p.Val24_Leu47del)
|
|
|
NM_000126.4(ETFA):c.706G>T (p.Asp236Tyr)
|
rs2141528171
|
|
NM_000126.4(ETFA):c.731C>T (p.Ala244Val)
|
|
|
NM_000126.4(ETFA):c.745C>T (p.Arg249Cys)
|
rs1353938548
|
|
NM_000126.4(ETFA):c.775A>G (p.Asn259Asp)
|
|
|
NM_000126.4(ETFA):c.77C>T (p.Ala26Val)
|
rs1389901296
|
|
NM_000126.4(ETFA):c.79G>A (p.Glu27Lys)
|
rs2141543849
|
|
NM_000126.4(ETFA):c.805A>T (p.Ile269Leu)
|
|
|
NM_000126.4(ETFA):c.806TAG[1] (p.Val270del)
|
rs779140971
|
|
NM_000126.4(ETFA):c.811G>A (p.Ala271Thr)
|
|
|
NM_000126.4(ETFA):c.838A>C (p.Ile280Leu)
|
|
|
NM_000126.4(ETFA):c.866G>C (p.Gly289Ala)
|
|
|
NM_000126.4(ETFA):c.871A>C (p.Lys291Gln)
|
rs1184566559
|
|
NM_000126.4(ETFA):c.882+10C>T
|
rs2039064081
|
|
NM_000126.4(ETFA):c.882+3A>G
|
|
|
NM_000126.4(ETFA):c.882+6T>G
|
rs746311782
|
|
NM_000126.4(ETFA):c.88A>G (p.Asn30Asp)
|
rs2039810890
|
|
NM_000126.4(ETFA):c.8G>C (p.Arg3Pro)
|
rs2141564581
|
|
NM_000126.4(ETFA):c.917C>T (p.Pro306Leu)
|
|
|
NM_000126.4(ETFA):c.934G>A (p.Asp312Asn)
|
|
|
NM_000126.4(ETFA):c.946G>C (p.Val316Leu)
|
rs1567195832
|
|
NM_000126.4(ETFA):c.946G>T (p.Val316Phe)
|
rs1567195832
|
|
NM_000126.4(ETFA):c.963+1del
|
rs746488455
|
|
NM_000126.4(ETFA):c.973G>A (p.Glu325Lys)
|
rs2038898400
|
|
NM_000126.4(ETFA):c.974A>G (p.Glu325Gly)
|
|
|
NM_000126.4(ETFA):c.980C>A (p.Thr327Asn)
|
|
|
NM_000126.4(ETFA):c.994A>G (p.Lys332Glu)
|
|
|
NM_000137.2(FAH):c.-159C>G
|
rs2041062775
|
|
NM_000137.2(FAH):c.-63C>A
|
rs532122242
|
|
NM_000137.3(FAH):c.*317G>A
|
rs886051499
|
|
NM_000137.4(FAH):c.*1G>A
|
rs2041369631
|
|
NM_000137.4(FAH):c.1001C>T (p.Ser334Phe)
|
|
|
NM_000137.4(FAH):c.1003G>A (p.Val335Ile)
|
|
|
NM_000137.4(FAH):c.1013G>A (p.Cys338Tyr)
|
|
|
NM_000137.4(FAH):c.1061C>T (p.Pro354Leu)
|
rs143326948
|
|
NM_000137.4(FAH):c.1062G>A (p.Pro354=)
|
rs767329352
|
|
NM_000137.4(FAH):c.107T>C (p.Ile36Thr)
|
rs774648934
|
|
NM_000137.4(FAH):c.1097_1099del (p.Ser366del)
|
|
|
NM_000137.4(FAH):c.1124T>C (p.Leu375Pro)
|
|
|
NM_000137.4(FAH):c.1152G>T (p.Leu384=)
|
rs886051497
|
|
NM_000137.4(FAH):c.1156G>C (p.Asp386His)
|
rs1555442402
|
|
NM_000137.4(FAH):c.1181G>A (p.Gly394Glu)
|
|
|
NM_000137.4(FAH):c.1196A>C (p.Asp399Ala)
|
rs2041368892
|
|
NM_000137.4(FAH):c.1213_1214delinsCA (p.Phe405His)
|
rs1567123622
|
|
NM_000137.4(FAH):c.128T>C (p.Leu43Pro)
|
|
|
NM_000137.4(FAH):c.147C>G (p.Leu49=)
|
rs886051496
|
|
NM_000137.4(FAH):c.167C>T (p.Ser56Phe)
|
rs770312290
|
|
NM_000137.4(FAH):c.192+9T>C
|
rs1386784352
|
|
NM_000137.4(FAH):c.221_238del (p.Gly74_Lys79del)
|
|
|
NM_000137.4(FAH):c.224A>G (p.Gln75Arg)
|
|
|
NM_000137.4(FAH):c.23A>C (p.Glu8Ala)
|
rs2041065243
|
|
NM_000137.4(FAH):c.249G>A (p.Val83=)
|
rs370095143
|
|
NM_000137.4(FAH):c.266del (p.Leu89fs)
|
|
|
NM_000137.4(FAH):c.268T>A (p.Ser90Thr)
|
|
|
NM_000137.4(FAH):c.272T>G (p.Val91Gly)
|
rs1344024365
|
|
NM_000137.4(FAH):c.295G>A (p.Asp99Asn)
|
rs1325951062
|
|
NM_000137.4(FAH):c.298_300del (p.Thr100del)
|
rs1555440545
|
|
NM_000137.4(FAH):c.307C>T (p.Arg103Trp)
|
|
|
NM_000137.4(FAH):c.314+4A>G
|
rs748750943
|
|
NM_000137.4(FAH):c.348C>A (p.His116Gln)
|
|
|
NM_000137.4(FAH):c.365-2_399dup
|
|
|
NM_000137.4(FAH):c.369C>A (p.Asp123Glu)
|
|
|
NM_000137.4(FAH):c.395A>G (p.Gln132Arg)
|
|
|
NM_000137.4(FAH):c.452A>G (p.Asn151Ser)
|
rs377283883
|
|
NM_000137.4(FAH):c.455+3A>G
|
rs779426726
|
|
NM_000137.4(FAH):c.455+3A>T
|
|
|
NM_000137.4(FAH):c.455+9T>C
|
rs531129429
|
|
NM_000137.4(FAH):c.485G>A (p.Arg162His)
|
|
|
NM_000137.4(FAH):c.494C>G (p.Ser165Cys)
|
rs2142097922
|
|
NM_000137.4(FAH):c.496G>C (p.Val166Leu)
|
|
|
NM_000137.4(FAH):c.502G>A (p.Val168Met)
|
|
|
NM_000137.4(FAH):c.529A>G (p.Met177Val)
|
|
|
NM_000137.4(FAH):c.52C>G (p.Pro18Ala)
|
|
|
NM_000137.4(FAH):c.532G>C (p.Gly178Arg)
|
rs2041210221
|
|
NM_000137.4(FAH):c.542_553+4dup
|
rs746554047
|
|
NM_000137.4(FAH):c.553+8A>G
|
rs1447400619
|
|
NM_000137.4(FAH):c.580A>G (p.Lys194Glu)
|
|
|
NM_000137.4(FAH):c.59G>A (p.Gly20Asp)
|
|
|
NM_000137.4(FAH):c.607-10C>G
|
rs2041245977
|
|
NM_000137.4(FAH):c.607-6T>G
|
rs80338896
|
|
NM_000137.4(FAH):c.607G>A (p.Ala203Thr)
|
rs2041246142
|
|
NM_000137.4(FAH):c.615T>A (p.Phe205Leu)
|
rs2041246277
|
|
NM_000137.4(FAH):c.633A>T (p.Arg211Ser)
|
|
|
NM_000137.4(FAH):c.645G>T (p.Pro215=)
|
rs151221329
|
|
NM_000137.4(FAH):c.678T>G (p.Phe226Leu)
|
rs2041247325
|
|
NM_000137.4(FAH):c.696C>A (p.Asn232Lys)
|
rs533540262
|
|
NM_000137.4(FAH):c.700T>G (p.Trp234Gly)
|
rs1555441595
|
|
NM_000137.4(FAH):c.704G>A (p.Ser235Asn)
|
|
|
NM_000137.4(FAH):c.707-7_707-5del
|
rs779284513
|
|
NM_000137.4(FAH):c.710G>A (p.Arg237Gln)
|
rs2041253905
|
|
NM_000137.4(FAH):c.740T>G (p.Leu247Arg)
|
|
|
NM_000137.4(FAH):c.775G>C (p.Val259Leu)
|
rs2041254739
|
|
NM_000137.4(FAH):c.778T>A (p.Ser260Thr)
|
|
|
NM_000137.4(FAH):c.79G>C (p.Asp27His)
|
|
|
NM_000137.4(FAH):c.820G>C (p.Val274Leu)
|
|
|
NM_000137.4(FAH):c.827A>G (p.Asn276Ser)
|
|
|
NM_000137.4(FAH):c.827A>T (p.Asn276Ile)
|
|
|
NM_000137.4(FAH):c.830C>T (p.Pro277Leu)
|
|
|
NM_000137.4(FAH):c.837+5G>A
|
|
|
NM_000137.4(FAH):c.837G>A (p.Gln279=)
|
|
|
NM_000137.4(FAH):c.845G>A (p.Arg282Lys)
|
|
|
NM_000137.4(FAH):c.847C>A (p.Pro283Thr)
|
|
|
NM_000137.4(FAH):c.866A>G (p.His289Arg)
|
|
|
NM_000137.4(FAH):c.90G>C (p.Pro30=)
|
rs202195651
|
|
NM_000137.4(FAH):c.932C>T (p.Ala311Val)
|
rs529709868
|
|
NM_000137.4(FAH):c.940A>G (p.Ile314Val)
|
rs2041295204
|
|
NM_000137.4(FAH):c.953A>G (p.Asn318Ser)
|
|
|
NM_000137.4(FAH):c.960+5G>A
|
|
|
NM_000137.4(FAH):c.974C>T (p.Thr325Met)
|
rs770713168
|
|
NM_000137.4(FAH):c.977T>C (p.Met326Thr)
|
rs2142107717
|
|
NM_000137.4(FAH):c.987G>T (p.Gln329His)
|
rs2041317218
|
|
NM_000137.4(FAH):c.991A>G (p.Thr331Ala)
|
|
|
NM_000156.6(GAMT):c.*69G>A
|
rs577136428
|
|
NM_000156.6(GAMT):c.106A>G (p.Ile36Val)
|
rs2082632903
|
|
NM_000156.6(GAMT):c.10C>T (p.Pro4Ser)
|
|
|
NM_000156.6(GAMT):c.112G>A (p.Gly38Ser)
|
|
|
NM_000156.6(GAMT):c.115A>C (p.Lys39Gln)
|
rs2144641138
|
|
NM_000156.6(GAMT):c.119C>G (p.Pro40Arg)
|
|
|
NM_000156.6(GAMT):c.119C>T (p.Pro40Leu)
|
rs1222736128
|
|
NM_000156.6(GAMT):c.11C>G (p.Pro4Arg)
|
rs587780949
|
|
NM_000156.6(GAMT):c.122T>C (p.Val41Ala)
|
rs1569008901
|
|
NM_000156.6(GAMT):c.124A>G (p.Met42Val)
|
rs536055494
|
|
NM_000156.6(GAMT):c.127G>C (p.Glu43Gln)
|
rs765081198
|
|
NM_000156.6(GAMT):c.130C>G (p.Arg44Gly)
|
|
|
NM_000156.6(GAMT):c.131G>A (p.Arg44His)
|
|
|
NM_000156.6(GAMT):c.131G>C (p.Arg44Pro)
|
rs200339910
|
|
NM_000156.6(GAMT):c.140C>T (p.Thr47Ile)
|
rs886054246
|
|
NM_000156.6(GAMT):c.148A>C (p.Met50Leu)
|
rs104894694
|
|
NM_000156.6(GAMT):c.150G>A (p.Met50Ile)
|
rs1569008795
|
|
NM_000156.6(GAMT):c.152A>C (p.His51Pro)
|
|
|
NM_000156.6(GAMT):c.154G>T (p.Ala52Ser)
|
|
|
NM_000156.6(GAMT):c.155C>G (p.Ala52Gly)
|
|
|
NM_000156.6(GAMT):c.157_158inv (p.Leu53Arg)
|
|
|
NM_000156.6(GAMT):c.165C>A (p.Ala55=)
|
rs767100879
|
|
NM_000156.6(GAMT):c.166G>A (p.Ala56Thr)
|
|
|
NM_000156.6(GAMT):c.170C>A (p.Ala57Asp)
|
|
|
NM_000156.6(GAMT):c.170C>T (p.Ala57Val)
|
rs2082632221
|
|
NM_000156.6(GAMT):c.172TCC[3] (p.Ser59dup)
|
rs768895098
|
|
NM_000156.6(GAMT):c.179A>C (p.Lys60Thr)
|
rs1228556317
|
|
NM_000156.6(GAMT):c.17C>T (p.Ala6Val)
|
rs796052529
|
|
NM_000156.6(GAMT):c.181+16C>T
|
rs776931007
|
|
NM_000156.6(GAMT):c.182-3_182dup
|
rs2082624287
|
|
NM_000156.6(GAMT):c.183G>T (p.Gly61=)
|
rs2082624249
|
|
NM_000156.6(GAMT):c.199G>A (p.Val67Met)
|
|
|
NM_000156.6(GAMT):c.1A>G (p.Met1Val)
|
rs796052527
|
|
NM_000156.6(GAMT):c.200T>A (p.Val67Glu)
|
rs2082624036
|
|
NM_000156.6(GAMT):c.218T>C (p.Ile73Thr)
|
rs2082623820
|
|
NM_000156.6(GAMT):c.219C>G (p.Ile73Met)
|
|
|
NM_000156.6(GAMT):c.221C>T (p.Ala74Val)
|
|
|
NM_000156.6(GAMT):c.230A>G (p.Lys77Arg)
|
|
|
NM_000156.6(GAMT):c.232G>A (p.Val78Met)
|
rs141358977
|
|
NM_000156.6(GAMT):c.248T>C (p.Ile83Thr)
|
rs796052523
|
|
NM_000156.6(GAMT):c.250G>C (p.Asp84His)
|
rs762438523
|
|
NM_000156.6(GAMT):c.261G>A (p.Trp87Ter)
|
rs761115975
|
|
NM_000156.6(GAMT):c.261G>C (p.Trp87Cys)
|
|
|
NM_000156.6(GAMT):c.262ATC[1] (p.Ile89del)
|
rs750232484
|
|
NM_000156.6(GAMT):c.268G>A (p.Glu90Lys)
|
rs1569006974
|
|
NM_000156.6(GAMT):c.274A>G (p.Asn92Asp)
|
|
|
NM_000156.6(GAMT):c.278A>T (p.Asp93Val)
|
|
|
NM_000156.6(GAMT):c.280G>A (p.Gly94Ser)
|
rs774689819
|
|
NM_000156.6(GAMT):c.288C>G (p.Phe96Leu)
|
rs1600159259
|
|
NM_000156.6(GAMT):c.291G>T (p.Gln97His)
|
rs796052524
|
|
NM_000156.6(GAMT):c.295C>T (p.Leu99Phe)
|
rs1085307596
|
|
NM_000156.6(GAMT):c.299G>A (p.Arg100Gln)
|
|
|
NM_000156.6(GAMT):c.304T>C (p.Trp102Arg)
|
|
|
NM_000156.6(GAMT):c.308C>T (p.Ala103Val)
|
rs1298671907
|
|
NM_000156.6(GAMT):c.30C>G (p.Phe10Leu)
|
rs2144641422
|
|
NM_000156.6(GAMT):c.315G>A (p.Arg105=)
|
rs559092619
|
|
NM_000156.6(GAMT):c.327+4C>T
|
rs767824933
|
|
NM_000156.6(GAMT):c.339G>C (p.Leu113Phe)
|
|
|
NM_000156.6(GAMT):c.346C>A (p.Leu116Met)
|
rs1467451589
|
|
NM_000156.6(GAMT):c.347T>A (p.Leu116Gln)
|
rs765281181
|
|
NM_000156.6(GAMT):c.356A>G (p.Asp119Gly)
|
rs2082620997
|
|
NM_000156.6(GAMT):c.358G>A (p.Val120Met)
|
rs2082620964
|
|
NM_000156.6(GAMT):c.37G>T (p.Gly13Cys)
|
|
|
NM_000156.6(GAMT):c.385T>G (p.Phe129Val)
|
rs2144637427
|
|
NM_000156.6(GAMT):c.389A>C (p.Asp130Ala)
|
rs2082620621
|
|
NM_000156.6(GAMT):c.392-9T>G
|
rs2082618862
|
|
NM_000156.6(GAMT):c.39C>T (p.Gly13=)
|
rs1262796024
|
|
NM_000156.6(GAMT):c.418T>A (p.Ser140Thr)
|
|
|
NM_000156.6(GAMT):c.421GAG[1] (p.Glu142del)
|
|
|
NM_000156.6(GAMT):c.435C>G (p.His145Gln)
|
rs2144636777
|
|
NM_000156.6(GAMT):c.440_441del (p.His147fs)
|
rs1487842051
|
|
NM_000156.6(GAMT):c.441C>A (p.His147Gln)
|
rs1555777047
|
|
NM_000156.6(GAMT):c.449A>G (p.Asn150Ser)
|
|
|
NM_000156.6(GAMT):c.456C>G (p.Ile152Met)
|
|
|
NM_000156.6(GAMT):c.459+3G>T
|
rs756194610
|
|
NM_000156.6(GAMT):c.459+9_459+12del
|
rs762239322
|
|
NM_000156.6(GAMT):c.460-3C>T
|
|
|
NM_000156.6(GAMT):c.462C>G (p.Asn154Lys)
|
rs748256259
|
|
NM_000156.6(GAMT):c.463C>G (p.His155Asp)
|
rs1374777721
|
|
NM_000156.6(GAMT):c.463C>T (p.His155Tyr)
|
rs1374777721
|
|
NM_000156.6(GAMT):c.466G>A (p.Ala156Thr)
|
|
|
NM_000156.6(GAMT):c.46T>G (p.Cys16Gly)
|
rs2082633520
|
|
NM_000156.6(GAMT):c.479T>G (p.Leu160Arg)
|
|
|
NM_000156.6(GAMT):c.484C>T (p.Pro162Ser)
|
rs1727242337
|
|
NM_000156.6(GAMT):c.491G>A (p.Gly164Asp)
|
rs760101382
|
|
NM_000156.6(GAMT):c.491G>T (p.Gly164Val)
|
rs760101382
|
|
NM_000156.6(GAMT):c.509A>G (p.Asn170Ser)
|
rs202199674
|
|
NM_000156.6(GAMT):c.515C>T (p.Thr172Ile)
|
|
|
NM_000156.6(GAMT):c.520T>C (p.Trp174Arg)
|
rs891042971
|
|
NM_000156.6(GAMT):c.521G>T (p.Trp174Leu)
|
rs200444143
|
|
NM_000156.6(GAMT):c.522G>C (p.Trp174Cys)
|
|
|
NM_000156.6(GAMT):c.523G>T (p.Gly175Trp)
|
rs758371494
|
|
NM_000156.6(GAMT):c.527A>G (p.Glu176Gly)
|
|
|
NM_000156.6(GAMT):c.530T>G (p.Leu177Arg)
|
rs1555777015
|
|
NM_000156.6(GAMT):c.53C>T (p.Pro18Leu)
|
rs2144641340
|
|
NM_000156.6(GAMT):c.562A>G (p.Met188Val)
|
rs1366312192
|
|
NM_000156.6(GAMT):c.563T>A (p.Met188Lys)
|
rs1163644565
|
|
NM_000156.6(GAMT):c.563T>C (p.Met188Thr)
|
|
|
NM_000156.6(GAMT):c.570+1G>A
|
rs2144636105
|
|
NM_000156.6(GAMT):c.570+5G>A
|
rs199678332
|
|
NM_000156.6(GAMT):c.570+5G>T
|
rs199678332
|
|
NM_000156.6(GAMT):c.570+6C>T
|
|
|
NM_000156.6(GAMT):c.571-3C>A
|
|
|
NM_000156.6(GAMT):c.571G>A (p.Glu191Lys)
|
|
|
NM_000156.6(GAMT):c.577C>G (p.Gln193Glu)
|
|
|
NM_000156.6(GAMT):c.578A>G (p.Gln193Arg)
|
rs2082607477
|
|
NM_000156.6(GAMT):c.584C>T (p.Pro195Leu)
|
rs1569003317
|
|
NM_000156.6(GAMT):c.593T>C (p.Leu198Pro)
|
rs1030954874
|
|
NM_000156.6(GAMT):c.593T>G (p.Leu198Arg)
|
|
|
NM_000156.6(GAMT):c.594G>A (p.Leu198=)
|
rs1569003278
|
|
NM_000156.6(GAMT):c.595G>A (p.Glu199Lys)
|
|
|
NM_000156.6(GAMT):c.59G>T (p.Trp20Leu)
|
rs80338734
|
|
NM_000156.6(GAMT):c.602G>A (p.Gly201Asp)
|
rs2082607153
|
|
NM_000156.6(GAMT):c.609dup (p.Arg204fs)
|
rs745740974
|
|
NM_000156.6(GAMT):c.610A>G (p.Arg204Gly)
|
|
|
NM_000156.6(GAMT):c.617A>G (p.Asn206Ser)
|
|
|
NM_000156.6(GAMT):c.622C>A (p.Arg208Ser)
|
rs778279369
|
|
NM_000156.6(GAMT):c.623G>T (p.Arg208Leu)
|
|
|
NM_000156.6(GAMT):c.631G>C (p.Val211Leu)
|
rs2144633525
|
|
NM_000156.6(GAMT):c.635T>A (p.Met212Lys)
|
|
|
NM_000156.6(GAMT):c.650C>A (p.Pro217Gln)
|
rs139890971
|
|
NM_000156.6(GAMT):c.657C>A (p.Asp219Glu)
|
|
|
NM_000156.6(GAMT):c.669C>G (p.Tyr223Ter)
|
rs762954251
|
|
NM_000156.6(GAMT):c.670G>C (p.Ala224Pro)
|
rs141471799
|
|
NM_000156.6(GAMT):c.677C>T (p.Pro226Leu)
|
rs796052528
|
|
NM_000156.6(GAMT):c.692C>T (p.Pro231Leu)
|
|
|
NM_000156.6(GAMT):c.697G>A (p.Val233Met)
|
rs771709696
|
|
NM_000156.6(GAMT):c.702C>T (p.Thr234=)
|
rs1375010161
|
|
NM_000156.6(GAMT):c.85G>A (p.Ala29Thr)
|
rs2082633095
|
|
NM_000156.6(GAMT):c.89C>T (p.Ala30Val)
|
|
|
NM_000156.6(GAMT):c.91_92insCACGG (p.Asp31fs)
|
rs1443859067
|
|
NM_000159.4(GCDH):c.*182AGA[1]
|
rs1555752085
|
|
NM_000159.4(GCDH):c.*331T>C
|
rs869025297
|
|
NM_000159.4(GCDH):c.*332C>A
|
rs869025298
|
|
NM_000159.4(GCDH):c.*61C>T
|
rs368816047
|
|
NM_000159.4(GCDH):c.-34-11C>A
|
rs367715601
|
|
NM_000159.4(GCDH):c.-35+9G>A
|
rs886054241
|
|
NM_000159.4(GCDH):c.-47G>A
|
rs952257144
|
|
NM_000159.4(GCDH):c.-50C>T
|
rs778329051
|
|
NM_000159.4(GCDH):c.-69T>C
|
rs950955521
|
|
NM_000159.4(GCDH):c.1002G>C (p.Lys334Asn)
|
|
|
NM_000159.4(GCDH):c.1018C>T (p.Leu340Phe)
|
rs1599617735
|
|
NM_000159.4(GCDH):c.1021A>T (p.Thr341Ser)
|
|
|
NM_000159.4(GCDH):c.1033C>G (p.Leu345Val)
|
rs1970708854
|
|
NM_000159.4(GCDH):c.1060_1065del (p.Gly354_Arg355del)
|
|
|
NM_000159.4(GCDH):c.1085C>T (p.Ala362Val)
|
|
|
NM_000159.4(GCDH):c.1097T>C (p.Met366Thr)
|
|
|
NM_000159.4(GCDH):c.1098G>A (p.Met366Ile)
|
rs1599618698
|
|
NM_000159.4(GCDH):c.1115G>A (p.Arg372Lys)
|
rs1555751240
|
|
NM_000159.4(GCDH):c.1124G>A (p.Cys375Tyr)
|
rs1568429153
|
|
NM_000159.4(GCDH):c.1131A>C (p.Lys377Asn)
|
rs139241235
|
|
NM_000159.4(GCDH):c.1134C>T (p.Ala378=)
|
rs2145954932
|
|
NM_000159.4(GCDH):c.1141A>G (p.Ile381Val)
|
|
|
NM_000159.4(GCDH):c.1167G>A (p.Leu389=)
|
rs398123191
|
|
NM_000159.4(GCDH):c.1169G>T (p.Gly390Val)
|
rs778153326
|
|
NM_000159.4(GCDH):c.116A>C (p.Gln39Pro)
|
rs1599606857
|
|
NM_000159.4(GCDH):c.1220T>C (p.Leu407Pro)
|
rs1555751379
|
|
NM_000159.4(GCDH):c.1274G>A (p.Gly425Glu)
|
rs2145959018
|
|
NM_000159.4(GCDH):c.1287G>A (p.Thr429=)
|
rs141819282
|
|
NM_000159.4(GCDH):c.1314dup (p.Ter439ValextTer?)
|
|
|
NM_000159.4(GCDH):c.133C>A (p.Arg45Ser)
|
rs1422889400
|
|
NM_000159.4(GCDH):c.193A>C (p.Ile65Leu)
|
rs1275589130
|
|
NM_000159.4(GCDH):c.196C>T (p.Leu66Phe)
|
rs762640205
|
|
NM_000159.4(GCDH):c.203G>C (p.Arg68Thr)
|
rs1417389111
|
|
NM_000159.4(GCDH):c.215G>A (p.Arg72His)
|
rs759076157
|
|
NM_000159.4(GCDH):c.227A>C (p.Gln76Pro)
|
rs748185335
|
|
NM_000159.4(GCDH):c.227A>G (p.Gln76Arg)
|
|
|
NM_000159.4(GCDH):c.232A>G (p.Arg78Gly)
|
|
|
NM_000159.4(GCDH):c.240G>C (p.Met80Ile)
|
rs1970567585
|
|
NM_000159.4(GCDH):c.271+17G>A
|
|
|
NM_000159.4(GCDH):c.271+19G>A
|
|
|
NM_000159.4(GCDH):c.278A>G (p.His93Arg)
|
rs398123192
|
|
NM_000159.4(GCDH):c.281G>A (p.Arg94Gln)
|
rs566417795
|
|
NM_000159.4(GCDH):c.283G>C (p.Glu95Gln)
|
|
|
NM_000159.4(GCDH):c.29T>C (p.Leu10Pro)
|
rs1417742838
|
|
NM_000159.4(GCDH):c.304G>C (p.Glu102Gln)
|
|
|
NM_000159.4(GCDH):c.311G>C (p.Gly104Ala)
|
|
|
NM_000159.4(GCDH):c.380_391del (p.Ala127_Leu130del)
|
rs1555749893
|
|
NM_000159.4(GCDH):c.383G>T (p.Arg128Leu)
|
rs755586631
|
|
NM_000159.4(GCDH):c.394C>G (p.Arg132Gly)
|
rs372429120
|
|
NM_000159.4(GCDH):c.395G>C (p.Arg132Pro)
|
|
|
NM_000159.4(GCDH):c.397G>A (p.Val133Met)
|
rs746388510
|
|
NM_000159.4(GCDH):c.397G>T (p.Val133Leu)
|
rs746388510
|
|
NM_000159.4(GCDH):c.401A>T (p.Asp134Val)
|
rs1970604130
|
|
NM_000159.4(GCDH):c.416C>G (p.Ser139Trp)
|
rs139851890
|
|
NM_000159.4(GCDH):c.427G>A (p.Val143Ile)
|
rs1555749918
|
|
NM_000159.4(GCDH):c.437C>A (p.Ser146Tyr)
|
rs1555749927
|
|
NM_000159.4(GCDH):c.49C>G (p.Leu17Val)
|
|
|
NM_000159.4(GCDH):c.528C>G (p.Cys176Trp)
|
rs756345321
|
|
NM_000159.4(GCDH):c.539C>T (p.Thr180Ile)
|
|
|
NM_000159.4(GCDH):c.548A>G (p.Asn183Ser)
|
|
|
NM_000159.4(GCDH):c.550A>G (p.Ser184Gly)
|
rs1555750471
|
|
NM_000159.4(GCDH):c.559G>A (p.Asp187Asn)
|
|
|
NM_000159.4(GCDH):c.566G>C (p.Ser189Thr)
|
rs764774411
|
|
NM_000159.4(GCDH):c.576_577delinsAC (p.Thr193Pro)
|
|
|
NM_000159.4(GCDH):c.596C>T (p.Ser199Leu)
|
rs1970669938
|
|
NM_000159.4(GCDH):c.614C>A (p.Thr205Asn)
|
|
|
NM_000159.4(GCDH):c.636-2dup
|
rs762345287
|
|
NM_000159.4(GCDH):c.640A>G (p.Thr214Ala)
|
rs1468636851
|
|
NM_000159.4(GCDH):c.643A>G (p.Asn215Asp)
|
rs1970674860
|
|
NM_000159.4(GCDH):c.680G>A (p.Arg227Gln)
|
rs121434373
|
|
NM_000159.4(GCDH):c.688G>A (p.Asp230Asn)
|
rs575325364
|
|
NM_000159.4(GCDH):c.691G>A (p.Gly231Ser)
|
rs1970676051
|
|
NM_000159.4(GCDH):c.700C>T (p.Arg234Trp)
|
rs964724051
|
|
NM_000159.4(GCDH):c.715G>A (p.Glu239Lys)
|
rs1970677215
|
|
NM_000159.4(GCDH):c.728G>A (p.Arg243Gln)
|
|
|
NM_000159.4(GCDH):c.730G>A (p.Gly244Ser)
|
rs1555750589
|
|
NM_000159.4(GCDH):c.73TCG[1] (p.Ser26del)
|
rs768065370
|
|
NM_000159.4(GCDH):c.748A>T (p.Ile250Phe)
|
rs1599615059
|
|
NM_000159.4(GCDH):c.759G>A (p.Lys253=)
|
rs886054242
|
|
NM_000159.4(GCDH):c.764C>G (p.Ser255Trp)
|
|
|
NM_000159.4(GCDH):c.782C>T (p.Thr261Ile)
|
rs777494547
|
|
NM_000159.4(GCDH):c.798G>A (p.Met266Ile)
|
rs1555750632
|
|
NM_000159.4(GCDH):c.80C>T (p.Ala27Val)
|
|
|
NM_000159.4(GCDH):c.851G>C (p.Gly284Ala)
|
|
|
NM_000159.4(GCDH):c.860T>C (p.Phe287Ser)
|
|
|
NM_000159.4(GCDH):c.91+5G>A
|
rs952356983
|
|
NM_000159.4(GCDH):c.926T>G (p.Leu309Trp)
|
|
|
NM_000159.4(GCDH):c.932C>G (p.Thr311Arg)
|
rs1970695857
|
|
NM_000159.4(GCDH):c.949C>T (p.Leu317Phe)
|
rs1970696752
|
|
NM_000159.4(GCDH):c.957-6A>C
|
rs748270195
|
|
NM_000159.4(GCDH):c.957G>A (p.Arg319=)
|
|
|
NM_000159.4(GCDH):c.981_982delinsTT (p.Arg328Trp)
|
|
|
NM_000159.4(GCDH):c.997C>G (p.Gln333Glu)
|
rs794726972
|
|
NM_000161.3(GCH1):c.*1283A>C
|
rs886050544
|
|
NM_000161.3(GCH1):c.*1294A>G
|
rs2039576937
|
|
NM_000161.3(GCH1):c.*1473A>G
|
rs886050543
|
|
NM_000161.3(GCH1):c.*155AATA[1]
|
rs752359690
|
|
NM_000161.3(GCH1):c.*1907A>G
|
rs886050542
|
|
NM_000161.3(GCH1):c.*243C>G
|
rs841
|
|
NM_000161.3(GCH1):c.*278C>T
|
rs756583192
|
|
NM_000161.3(GCH1):c.*727A>G
|
rs138578359
|
|
NM_000161.3(GCH1):c.*830A>T
|
rs542811477
|
|
NM_000161.3(GCH1):c.*935A>C
|
rs2039584676
|
|
NM_000161.3(GCH1):c.-72C>T
|
rs886050551
|
|
NM_000161.3(GCH1):c.-98C>T
|
rs886050552
|
|
NM_000161.3(GCH1):c.10G>A (p.Gly4Ser)
|
|
|
NM_000161.3(GCH1):c.115C>A (p.Pro39Thr)
|
rs770932357
|
|
NM_000161.3(GCH1):c.119C>G (p.Pro40Arg)
|
rs995999325
|
|
NM_000161.3(GCH1):c.11G>A (p.Gly4Asp)
|
rs2140127797
|
|
NM_000161.3(GCH1):c.137G>A (p.Ser46Asn)
|
|
|
NM_000161.3(GCH1):c.138C>A (p.Ser46Arg)
|
|
|
NM_000161.3(GCH1):c.13C>G (p.Pro5Ala)
|
rs2040587976
|
|
NM_000161.3(GCH1):c.140C>A (p.Ala47Glu)
|
rs2040584415
|
|
NM_000161.3(GCH1):c.140C>T (p.Ala47Val)
|
|
|
NM_000161.3(GCH1):c.145C>T (p.Pro49Ser)
|
|
|
NM_000161.3(GCH1):c.153C>A (p.Asp51Glu)
|
rs745516526
|
|
NM_000161.3(GCH1):c.154G>A (p.Gly52Ser)
|
|
|
NM_000161.3(GCH1):c.154G>T (p.Gly52Cys)
|
|
|
NM_000161.3(GCH1):c.163G>A (p.Gly55Ser)
|
rs2140127419
|
|
NM_000161.3(GCH1):c.164G>A (p.Gly55Asp)
|
|
|
NM_000161.3(GCH1):c.16G>T (p.Val6Leu)
|
rs1413964407
|
|
NM_000161.3(GCH1):c.170G>A (p.Arg57Gln)
|
|
|
NM_000161.3(GCH1):c.172C>T (p.Pro58Ser)
|
rs2040583643
|
|
NM_000161.3(GCH1):c.175C>G (p.Arg59Gly)
|
|
|
NM_000161.3(GCH1):c.186G>T (p.Glu62Asp)
|
rs752590798
|
|
NM_000161.3(GCH1):c.187G>A (p.Asp63Asn)
|
|
|
NM_000161.3(GCH1):c.194A>T (p.Glu65Val)
|
rs2140127337
|
|
NM_000161.3(GCH1):c.197T>C (p.Leu66Pro)
|
rs1042390728
|
|
NM_000161.3(GCH1):c.202C>T (p.Leu68Phe)
|
|
|
NM_000161.3(GCH1):c.215C>G (p.Ala72Gly)
|
|
|
NM_000161.3(GCH1):c.229_246del (p.Ser77_Leu82del)
|
rs2140127202
|
|
NM_000161.3(GCH1):c.22G>C (p.Ala8Pro)
|
rs529381971
|
|
NM_000161.3(GCH1):c.22G>T (p.Ala8Ser)
|
rs529381971
|
|
NM_000161.3(GCH1):c.230C>G (p.Ser77Cys)
|
rs748666093
|
|
NM_000161.3(GCH1):c.238A>T (p.Ser80Cys)
|
rs2140127221
|
|
NM_000161.3(GCH1):c.241T>C (p.Ser81Pro)
|
rs2140127208
|
|
NM_000161.3(GCH1):c.257C>G (p.Pro86Arg)
|
rs1555362836
|
|
NM_000161.3(GCH1):c.25C>T (p.Pro9Ser)
|
|
|
NM_000161.3(GCH1):c.260A>C (p.Gln87Pro)
|
rs1595031190
|
|
NM_000161.3(GCH1):c.261G>T (p.Gln87His)
|
|
|
NM_000161.3(GCH1):c.266A>G (p.Gln89Arg)
|
rs2140127145
|
|
NM_000161.3(GCH1):c.274C>T (p.Leu92Phe)
|
rs763294577
|
|
NM_000161.3(GCH1):c.275T>C (p.Leu92Pro)
|
|
|
NM_000161.3(GCH1):c.279G>T (p.Lys93Asn)
|
|
|
NM_000161.3(GCH1):c.280A>G (p.Thr94Ala)
|
|
|
NM_000161.3(GCH1):c.289A>T (p.Arg97Trp)
|
rs2140127094
|
|
NM_000161.3(GCH1):c.295G>C (p.Ala99Pro)
|
rs1566687219
|
|
NM_000161.3(GCH1):c.298T>C (p.Ser100Pro)
|
|
|
NM_000161.3(GCH1):c.305T>C (p.Met102Thr)
|
rs2140127042
|
|
NM_000161.3(GCH1):c.321G>C (p.Lys107Asn)
|
rs1375057499
|
|
NM_000161.3(GCH1):c.343+3C>T
|
|
|
NM_000161.3(GCH1):c.344-3C>G
|
rs2039977194
|
|
NM_000161.3(GCH1):c.355G>A (p.Asp119Asn)
|
|
|
NM_000161.3(GCH1):c.361A>G (p.Ile121Val)
|
|
|
NM_000161.3(GCH1):c.367G>A (p.Asp123Asn)
|
rs2140074143
|
|
NM_000161.3(GCH1):c.394G>A (p.Val132Met)
|
|
|
NM_000161.3(GCH1):c.395T>C (p.Val132Ala)
|
rs1555360034
|
|
NM_000161.3(GCH1):c.416C>T (p.Ser139Phe)
|
rs144542994
|
|
NM_000161.3(GCH1):c.418A>G (p.Met140Val)
|
|
|
NM_000161.3(GCH1):c.420G>A (p.Met140Ile)
|
rs1360081603
|
|
NM_000161.3(GCH1):c.423T>G (p.Cys141Trp)
|
rs2140074056
|
|
NM_000161.3(GCH1):c.435G>T (p.Leu145Phe)
|
rs763677193
|
|
NM_000161.3(GCH1):c.439C>A (p.Pro147Thr)
|
|
|
NM_000161.3(GCH1):c.43G>A (p.Gly15Ser)
|
|
|
NM_000161.3(GCH1):c.440C>T (p.Pro147Leu)
|
rs1594989087
|
|
NM_000161.3(GCH1):c.452A>G (p.Lys151Arg)
|
rs2140073994
|
|
NM_000161.3(GCH1):c.453+6G>T
|
|
|
NM_000161.3(GCH1):c.458A>G (p.His153Arg)
|
|
|
NM_000161.3(GCH1):c.460A>G (p.Ile154Val)
|
|
|
NM_000161.3(GCH1):c.462T>G (p.Ile154Met)
|
rs1566665914
|
|
NM_000161.3(GCH1):c.476A>G (p.Asn159Ser)
|
|
|
NM_000161.3(GCH1):c.491G>C (p.Gly164Ala)
|
|
|
NM_000161.3(GCH1):c.493C>T (p.Leu165Phe)
|
|
|
NM_000161.3(GCH1):c.506C>G (p.Ala169Gly)
|
|
|
NM_000161.3(GCH1):c.507G>C (p.Ala169=)
|
rs150158277
|
|
NM_000161.3(GCH1):c.508A>G (p.Arg170Gly)
|
rs2039865673
|
|
NM_000161.3(GCH1):c.509+2795T>A
|
|
|
NM_000161.3(GCH1):c.509+6T>C
|
rs2140063307
|
|
NM_000161.3(GCH1):c.514G>A (p.Val172Ile)
|
rs1566660315
|
|
NM_000161.3(GCH1):c.514G>T (p.Val172Leu)
|
rs1566660315
|
|
NM_000161.3(GCH1):c.541G>A (p.Val181Ile)
|
|
|
NM_000161.3(GCH1):c.542-12T>C
|
|
|
NM_000161.3(GCH1):c.575C>T (p.Ala192Val)
|
|
|
NM_000161.3(GCH1):c.581C>T (p.Thr194Met)
|
|
|
NM_000161.3(GCH1):c.591G>C (p.Leu197Phe)
|
|
|
NM_000161.3(GCH1):c.592C>T (p.Arg198Trp)
|
rs752447862
|
|
NM_000161.3(GCH1):c.596C>T (p.Pro199Leu)
|
rs2140041686
|
|
NM_000161.3(GCH1):c.599C>G (p.Ala200Gly)
|
|
|
NM_000161.3(GCH1):c.617T>C (p.Val206Ala)
|
rs773159175
|
|
NM_000161.3(GCH1):c.621A>T (p.Glu207Asp)
|
rs2140041594
|
|
NM_000161.3(GCH1):c.626+5G>A
|
|
|
NM_000161.3(GCH1):c.626+5G>C
|
rs1594970015
|
|
NM_000161.3(GCH1):c.626+6T>G
|
|
|
NM_000161.3(GCH1):c.626+9G>T
|
rs374007793
|
|
NM_000161.3(GCH1):c.626C>T (p.Thr209Ile)
|
rs141634133
|
|
NM_000161.3(GCH1):c.627-2A>G
|
|
|
NM_000161.3(GCH1):c.627-9_627-7del
|
|
|
NM_000161.3(GCH1):c.634T>C (p.Cys212Arg)
|
rs2039604113
|
|
NM_000161.3(GCH1):c.635G>A (p.Cys212Tyr)
|
|
|
NM_000161.3(GCH1):c.641T>C (p.Val214Ala)
|
rs2140038925
|
|
NM_000161.3(GCH1):c.647G>C (p.Arg216Pro)
|
rs2039603118
|
|
NM_000161.3(GCH1):c.649G>A (p.Gly217Ser)
|
|
|
NM_000161.3(GCH1):c.650G>T (p.Gly217Val)
|
rs2039603046
|
|
NM_000161.3(GCH1):c.661A>G (p.Met221Val)
|
|
|
NM_000161.3(GCH1):c.666C>T (p.Asn222=)
|
|
|
NM_000161.3(GCH1):c.676G>C (p.Val226Leu)
|
rs2140038840
|
|
NM_000161.3(GCH1):c.677T>A (p.Val226Glu)
|
rs776426317
|
|
NM_000161.3(GCH1):c.689T>C (p.Met230Thr)
|
rs2140038798
|
|
NM_000161.3(GCH1):c.694G>C (p.Gly232Arg)
|
|
|
NM_000161.3(GCH1):c.695G>A (p.Gly232Asp)
|
rs2140038792
|
|
NM_000161.3(GCH1):c.704G>A (p.Arg235Gln)
|
rs1555358380
|
|
NM_000161.3(GCH1):c.709G>A (p.Asp237Asn)
|
rs2140038782
|
|
NM_000161.3(GCH1):c.712C>A (p.Pro238Thr)
|
rs2140038781
|
|
NM_000161.3(GCH1):c.721C>T (p.Arg241Trp)
|
|
|
NM_000161.3(GCH1):c.724G>T (p.Glu242Ter)
|
rs1296731359
|
|
NM_000161.3(GCH1):c.73C>T (p.Arg25Trp)
|
|
|
NM_000161.3(GCH1):c.745A>G (p.Arg249Gly)
|
rs2039600745
|
|
NM_000161.3(GCH1):c.747_748delinsCT (p.Arg249_Ser250delinsSerCys)
|
|
|
NM_000161.3(GCH1):c.750C>T (p.Ser250=)
|
|
|
NM_000161.3(GCH1):c.753A>C (p.Ter251Cys)
|
rs1555358379
|
|
NM_000161.3(GCH1):c.82C>T (p.Pro28Ser)
|
|
|
NM_000161.3(GCH1):c.91G>C (p.Gly31Arg)
|
|
|
NM_000161.3(GCH1):c.97A>T (p.Ser33Cys)
|
rs1373130817
|
|
NM_000170.3(GLDC):c.*378G>T
|
rs907978914
|
|
NM_000170.3(GLDC):c.*410G>A
|
rs35834773
|
|
NM_000170.3(GLDC):c.*505_*506del
|
rs3215922
|
|
NM_000170.3(GLDC):c.-173T>G
|
rs1039584725
|
|
NM_000170.3(GLDC):c.1007T>C (p.Val336Ala)
|
rs1563856669
|
|
NM_000170.3(GLDC):c.1020G>C (p.Leu340Phe)
|
|
|
NM_000170.3(GLDC):c.1048G>C (p.Gly350Arg)
|
|
|
NM_000170.3(GLDC):c.1058G>A (p.Arg353Lys)
|
|
|
NM_000170.3(GLDC):c.1063G>A (p.Ala355Thr)
|
rs1291866387
|
|
NM_000170.3(GLDC):c.1064C>T (p.Ala355Val)
|
|
|
NM_000170.3(GLDC):c.1069G>A (p.Gly357Arg)
|
rs941998596
|
|
NM_000170.3(GLDC):c.106G>C (p.Asp36His)
|
rs573883784
|
|
NM_000170.3(GLDC):c.1075G>A (p.Glu359Lys)
|
rs1818624630
|
|
NM_000170.3(GLDC):c.107A>G (p.Asp36Gly)
|
|
|
NM_000170.3(GLDC):c.1084C>T (p.Arg362Cys)
|
rs10975674
|
|
NM_000170.3(GLDC):c.1087C>A (p.Leu363Ile)
|
rs2129885472
|
|
NM_000170.3(GLDC):c.1094T>C (p.Leu365Pro)
|
|
|
NM_000170.3(GLDC):c.109A>C (p.Ser37Arg)
|
rs1819723770
|
|
NM_000170.3(GLDC):c.10T>C (p.Cys4Arg)
|
rs2130033101
|
|
NM_000170.3(GLDC):c.1100C>A (p.Thr367Asn)
|
rs1183976692
|
|
NM_000170.3(GLDC):c.1100C>T (p.Thr367Ile)
|
rs1183976692
|
|
NM_000170.3(GLDC):c.1128G>T (p.Lys376Asn)
|
|
|
NM_000170.3(GLDC):c.1156G>A (p.Ala386Thr)
|
|
|
NM_000170.3(GLDC):c.1183T>C (p.Phe395Leu)
|
rs767200188
|
|
NM_000170.3(GLDC):c.118G>A (p.Gly40Ser)
|
|
|
NM_000170.3(GLDC):c.1196A>G (p.His399Arg)
|
|
|
NM_000170.3(GLDC):c.1202C>T (p.Ser401Phe)
|
rs1563852496
|
|
NM_000170.3(GLDC):c.1205A>G (p.His402Arg)
|
rs763451428
|
|
NM_000170.3(GLDC):c.1206T>A (p.His402Gln)
|
rs776207334
|
|
NM_000170.3(GLDC):c.1214A>G (p.Glu405Gly)
|
rs1387648444
|
|
NM_000170.3(GLDC):c.1217A>G (p.His406Arg)
|
rs1818464686
|
|
NM_000170.3(GLDC):c.1222G>T (p.Ala408Ser)
|
rs1387492186
|
|
NM_000170.3(GLDC):c.1227G>C (p.Arg409Ser)
|
|
|
NM_000170.3(GLDC):c.1230G>T (p.Arg410Ser)
|
|
|
NM_000170.3(GLDC):c.1237A>T (p.Asn413Tyr)
|
|
|
NM_000170.3(GLDC):c.1254G>C (p.Leu418Phe)
|
|
|
NM_000170.3(GLDC):c.1261+3G>A
|
rs763285478
|
|
NM_000170.3(GLDC):c.1261+5G>A
|
|
|
NM_000170.3(GLDC):c.1261+6T>A
|
rs931422809
|
|
NM_000170.3(GLDC):c.1264C>A (p.Leu422Ile)
|
rs1554647026
|
|
NM_000170.3(GLDC):c.1267A>G (p.Lys423Glu)
|
|
|
NM_000170.3(GLDC):c.1271G>A (p.Arg424Gln)
|
rs2129853745
|
|
NM_000170.3(GLDC):c.1274C>T (p.Ala425Val)
|
|
|
NM_000170.3(GLDC):c.127G>T (p.Asp43Tyr)
|
rs1819723104
|
|
NM_000170.3(GLDC):c.1284A>C (p.Gln428His)
|
|
|
NM_000170.3(GLDC):c.1285C>G (p.Leu429Val)
|
|
|
NM_000170.3(GLDC):c.1290G>C (p.Gln430His)
|
rs1408480389
|
|
NM_000170.3(GLDC):c.130A>T (p.Ser44Cys)
|
rs2130032299
|
|
NM_000170.3(GLDC):c.1314G>C (p.Leu438Phe)
|
rs1286813560
|
|
NM_000170.3(GLDC):c.1319T>C (p.Ile440Thr)
|
rs386833523
|
|
NM_000170.3(GLDC):c.1336G>A (p.Val446Met)
|
|
|
NM_000170.3(GLDC):c.1340A>T (p.Lys447Met)
|
rs1161073883
|
|
NM_000170.3(GLDC):c.1357G>T (p.Ala453Ser)
|
rs1057515607
|
|
NM_000170.3(GLDC):c.1360G>A (p.Ala454Thr)
|
|
|
NM_000170.3(GLDC):c.1363C>A (p.Gln455Lys)
|
rs1818404451
|
|
NM_000170.3(GLDC):c.1364A>G (p.Gln455Arg)
|
|
|
NM_000170.3(GLDC):c.1370A>G (p.Gln457Arg)
|
|
|
NM_000170.3(GLDC):c.1378T>G (p.Phe460Val)
|
rs2129853060
|
|
NM_000170.3(GLDC):c.1388T>C (p.Phe463Ser)
|
rs1818403390
|
|
NM_000170.3(GLDC):c.1394A>G (p.Asp465Gly)
|
rs2129852952
|
|
NM_000170.3(GLDC):c.139G>A (p.Ala47Thr)
|
|
|
NM_000170.3(GLDC):c.139G>C (p.Ala47Pro)
|
|
|
NM_000170.3(GLDC):c.13G>T (p.Ala5Ser)
|
|
|
NM_000170.3(GLDC):c.1402-3T>G
|
|
|
NM_000170.3(GLDC):c.1446C>G (p.Asp482Glu)
|
rs201147701
|
|
NM_000170.3(GLDC):c.145G>T (p.Ala49Ser)
|
|
|
NM_000170.3(GLDC):c.1466G>A (p.Gly489Asp)
|
rs767519430
|
|
NM_000170.3(GLDC):c.1470T>G (p.Cys490Trp)
|
rs1183108459
|
|
NM_000170.3(GLDC):c.1471G>A (p.Glu491Lys)
|
rs1818387020
|
|
NM_000170.3(GLDC):c.1482+6T>C
|
|
|
NM_000170.3(GLDC):c.1483-3C>G
|
|
|
NM_000170.3(GLDC):c.1483G>C (p.Glu495Gln)
|
rs1554646734
|
|
NM_000170.3(GLDC):c.1484_1489del
|
rs778109389
|
|
NM_000170.3(GLDC):c.1489G>A (p.Val497Ile)
|
|
|
NM_000170.3(GLDC):c.1489G>T (p.Val497Phe)
|
rs1389059785
|
|
NM_000170.3(GLDC):c.1493C>T (p.Ala498Val)
|
|
|
NM_000170.3(GLDC):c.1495G>A (p.Glu499Lys)
|
|
|
NM_000170.3(GLDC):c.1505G>C (p.Gly502Ala)
|
|
|
NM_000170.3(GLDC):c.1512G>C (p.Glu504Asp)
|
|
|
NM_000170.3(GLDC):c.1514G>A (p.Cys505Tyr)
|
|
|
NM_000170.3(GLDC):c.1539C>G (p.Phe513Leu)
|
|
|
NM_000170.3(GLDC):c.1545G>A (p.Arg515=)
|
rs121964976
|
|
NM_000170.3(GLDC):c.1553C>A (p.Pro518Gln)
|
rs761064507
|
|
NM_000170.3(GLDC):c.1553C>G (p.Pro518Arg)
|
rs761064507
|
|
NM_000170.3(GLDC):c.1553C>T (p.Pro518Leu)
|
rs761064507
|
|
NM_000170.3(GLDC):c.1554G>C (p.Pro518=)
|
rs377219563
|
|
NM_000170.3(GLDC):c.1566T>A (p.His522Gln)
|
|
|
NM_000170.3(GLDC):c.156_167del (p.Glu54_Leu57del)
|
rs1554652793
|
|
NM_000170.3(GLDC):c.1576A>C (p.Asn526His)
|
rs898444750
|
|
NM_000170.3(GLDC):c.1576A>T (p.Asn526Tyr)
|
|
|
NM_000170.3(GLDC):c.1579A>C (p.Ser527Arg)
|
|
|
NM_000170.3(GLDC):c.1580+5G>T
|
rs764790596
|
|
NM_000170.3(GLDC):c.1595C>G (p.Thr532Arg)
|
rs386833527
|
|
NM_000170.3(GLDC):c.1600A>G (p.Ile534Val)
|
|
|
NM_000170.3(GLDC):c.160_171del (p.Glu54_Leu57del)
|
rs1554652791
|
|
NM_000170.3(GLDC):c.1630A>G (p.Lys544Glu)
|
|
|
NM_000170.3(GLDC):c.1635C>G (p.Asp545Glu)
|
rs2129837376
|
|
NM_000170.3(GLDC):c.164G>A (p.Arg55His)
|
rs1195896229
|
|
NM_000170.3(GLDC):c.1654A>G (p.Met552Val)
|
rs386833529
|
|
NM_000170.3(GLDC):c.1658T>G (p.Ile553Ser)
|
rs2129837261
|
|
NM_000170.3(GLDC):c.1661C>T (p.Pro554Leu)
|
rs1244239144
|
|
NM_000170.3(GLDC):c.1676C>A (p.Thr559Asn)
|
rs1554646634
|
|
NM_000170.3(GLDC):c.1689C>G (p.Asn563Lys)
|
rs546431385
|
|
NM_000170.3(GLDC):c.1697C>A (p.Ser566Tyr)
|
|
|
NM_000170.3(GLDC):c.1705G>C (p.Ala569Pro)
|
rs151268759
|
|
NM_000170.3(GLDC):c.1706C>T (p.Ala569Val)
|
rs1263586630
|
|
NM_000170.3(GLDC):c.1707+5G>C
|
rs1587947174
|
|
NM_000170.3(GLDC):c.1708C>G (p.Pro570Ala)
|
rs1289915951
|
|
NM_000170.3(GLDC):c.1711A>G (p.Ile571Val)
|
|
|
NM_000170.3(GLDC):c.1714A>G (p.Thr572Ala)
|
|
|
NM_000170.3(GLDC):c.1722A>C (p.Lys574Asn)
|
rs1554646530
|
|
NM_000170.3(GLDC):c.1726T>G (p.Phe576Val)
|
rs2129832067
|
|
NM_000170.3(GLDC):c.1729G>A (p.Ala577Thr)
|
rs1818290393
|
|
NM_000170.3(GLDC):c.172C>T (p.Pro58Ser)
|
rs780963698
|
|
NM_000170.3(GLDC):c.1735A>G (p.Ile579Val)
|
rs2129832016
|
|
NM_000170.3(GLDC):c.1738C>G (p.His580Asp)
|
rs1164241828
|
|
NM_000170.3(GLDC):c.1756G>T (p.Asp586Tyr)
|
rs1042809307
|
|
NM_000170.3(GLDC):c.176G>A (p.Arg59Lys)
|
rs386833530
|
|
NM_000170.3(GLDC):c.1779G>C (p.Gln593His)
|
|
|
NM_000170.3(GLDC):c.1801G>C (p.Asp601His)
|
|
|
NM_000170.3(GLDC):c.1816A>G (p.Thr606Ala)
|
rs2129831606
|
|
NM_000170.3(GLDC):c.1819G>A (p.Gly607Ser)
|
rs1554646517
|
|
NM_000170.3(GLDC):c.181GAC[1] (p.Asp62del)
|
rs1554652789
|
|
NM_000170.3(GLDC):c.1820G>C (p.Gly607Ala)
|
rs1818288295
|
|
NM_000170.3(GLDC):c.1829A>G (p.Gln610Arg)
|
|
|
NM_000170.3(GLDC):c.1832T>G (p.Val611Gly)
|
rs386833533
|
|
NM_000170.3(GLDC):c.1833C>T (p.Val611=)
|
|
|
NM_000170.3(GLDC):c.183C>G (p.Asp61Glu)
|
rs375497905
|
|
NM_000170.3(GLDC):c.1842G>T (p.Gln614His)
|
|
|
NM_000170.3(GLDC):c.184G>T (p.Asp62Tyr)
|
rs2130032047
|
|
NM_000170.3(GLDC):c.1850+6G>A
|
|
|
NM_000170.3(GLDC):c.1850G>C (p.Ser617Thr)
|
|
|
NM_000170.3(GLDC):c.1853G>A (p.Gly618Glu)
|
rs1563839743
|
|
NM_000170.3(GLDC):c.1868A>T (p.Tyr623Phe)
|
rs2129758401
|
|
NM_000170.3(GLDC):c.1871C>G (p.Ala624Gly)
|
rs779980470
|
|
NM_000170.3(GLDC):c.1885A>G (p.Ile629Val)
|
rs761680597
|
|
NM_000170.3(GLDC):c.190G>T (p.Ala64Ser)
|
rs141601131
|
|
NM_000170.3(GLDC):c.1910G>A (p.Gly637Glu)
|
rs759852256
|
|
NM_000170.3(GLDC):c.1914G>C (p.Glu638Asp)
|
rs1200000126
|
|
NM_000170.3(GLDC):c.1926+3G>T
|
rs1563839674
|
|
NM_000170.3(GLDC):c.1926+5G>A
|
rs1554644678
|
|
NM_000170.3(GLDC):c.1927-4G>A
|
rs576723612
|
|
NM_000170.3(GLDC):c.1931G>A (p.Cys644Tyr)
|
rs386833535
|
|
NM_000170.3(GLDC):c.194G>A (p.Arg65Gln)
|
|
|
NM_000170.3(GLDC):c.194G>C (p.Arg65Pro)
|
|
|
NM_000170.3(GLDC):c.1951C>G (p.His651Asp)
|
rs2129735272
|
|
NM_000170.3(GLDC):c.1970G>A (p.Ser657Asn)
|
rs1301895668
|
|
NM_000170.3(GLDC):c.1975C>T (p.His659Tyr)
|
|
|
NM_000170.3(GLDC):c.1978A>G (p.Met660Val)
|
|
|
NM_000170.3(GLDC):c.197G>C (p.Arg66Thr)
|
|
|
NM_000170.3(GLDC):c.197_198delinsAA (p.Arg66Lys)
|
rs1554652780
|
|
NM_000170.3(GLDC):c.2000C>T (p.Pro667Leu)
|
|
|
NM_000170.3(GLDC):c.2008G>C (p.Val670Leu)
|
rs767864486
|
|
NM_000170.3(GLDC):c.2011G>C (p.Asp671His)
|
rs2129734998
|
|
NM_000170.3(GLDC):c.2013T>G (p.Asp671Glu)
|
|
|
NM_000170.3(GLDC):c.2017T>C (p.Tyr673His)
|
|
|
NM_000170.3(GLDC):c.2020G>T (p.Gly674Trp)
|
rs2129734932
|
|
NM_000170.3(GLDC):c.2029G>A (p.Asp677Asn)
|
|
|
NM_000170.3(GLDC):c.2033_2035del (p.Ala678del)
|
rs769625871
|
|
NM_000170.3(GLDC):c.2041C>A (p.Leu681Ile)
|
rs753457618
|
|
NM_000170.3(GLDC):c.2045A>G (p.Lys682Arg)
|
rs1305077560
|
|
NM_000170.3(GLDC):c.2047G>A (p.Ala683Thr)
|
rs2129734759
|
|
NM_000170.3(GLDC):c.2052+4C>T
|
|
|
NM_000170.3(GLDC):c.2052+6T>C
|
rs1421593264
|
|
NM_000170.3(GLDC):c.2060A>T (p.Lys687Met)
|
rs1010614777
|
|
NM_000170.3(GLDC):c.2063A>C (p.His688Pro)
|
rs759659824
|
|
NM_000170.3(GLDC):c.2063A>G (p.His688Arg)
|
rs759659824
|
|
NM_000170.3(GLDC):c.2074C>G (p.Leu692Val)
|
|
|
NM_000170.3(GLDC):c.2085C>G (p.Ile695Met)
|
|
|
NM_000170.3(GLDC):c.2086A>G (p.Met696Val)
|
|
|
NM_000170.3(GLDC):c.2086A>T (p.Met696Leu)
|
rs371447782
|
|
NM_000170.3(GLDC):c.2088G>A (p.Met696Ile)
|
|
|
NM_000170.3(GLDC):c.2090T>C (p.Ile697Thr)
|
|
|
NM_000170.3(GLDC):c.2091T>G (p.Ile697Met)
|
rs2129726512
|
|
NM_000170.3(GLDC):c.209C>A (p.Pro70His)
|
rs776730073
|
|
NM_000170.3(GLDC):c.20C>T (p.Ala7Val)
|
rs1420734296
|
|
NM_000170.3(GLDC):c.2124_2126dup (p.Glu708_Asn709insLys)
|
rs1554643929
|
|
NM_000170.3(GLDC):c.2125A>G (p.Asn709Asp)
|
|
|
NM_000170.3(GLDC):c.2136C>G (p.Asp712Glu)
|
rs762761551
|
|
NM_000170.3(GLDC):c.2148C>T (p.Leu716=)
|
rs367750112
|
|
NM_000170.3(GLDC):c.214G>C (p.Asp72His)
|
|
|
NM_000170.3(GLDC):c.214G>T (p.Asp72Tyr)
|
rs1819720191
|
|
NM_000170.3(GLDC):c.2159A>G (p.His720Arg)
|
|
|
NM_000170.3(GLDC):c.2161G>A (p.Gly721Arg)
|
rs1587924821
|
|
NM_000170.3(GLDC):c.2162G>C (p.Gly721Ala)
|
rs2129726062
|
|
NM_000170.3(GLDC):c.2167C>G (p.Gln723Glu)
|
|
|
NM_000170.3(GLDC):c.2179G>C (p.Asp727His)
|
rs2129725947
|
|
NM_000170.3(GLDC):c.2190T>A (p.Asn730Lys)
|
|
|
NM_000170.3(GLDC):c.2191A>G (p.Met731Val)
|
rs545419197
|
|
NM_000170.3(GLDC):c.2201A>G (p.Gln734Arg)
|
rs1817625875
|
|
NM_000170.3(GLDC):c.2203-20G>A
|
rs1290189679
|
|
NM_000170.3(GLDC):c.2218C>G (p.Pro740Ala)
|
|
|
NM_000170.3(GLDC):c.2219C>G (p.Pro740Arg)
|
|
|
NM_000170.3(GLDC):c.2234C>G (p.Ser745Cys)
|
rs1398537221
|
|
NM_000170.3(GLDC):c.2238T>A (p.Asp746Glu)
|
rs749882600
|
|
NM_000170.3(GLDC):c.2240T>A (p.Val747Asp)
|
rs1563835004
|
|
NM_000170.3(GLDC):c.224A>G (p.Gln75Arg)
|
rs1819719916
|
|
NM_000170.3(GLDC):c.2259C>G (p.His753Gln)
|
rs2129719894
|
|
NM_000170.3(GLDC):c.2293C>T (p.Pro765Ser)
|
rs386833551
|
|
NM_000170.3(GLDC):c.2297G>T (p.Gly766Val)
|
rs750384225
|
|
NM_000170.3(GLDC):c.2305C>G (p.Pro769Ala)
|
|
|
NM_000170.3(GLDC):c.2310C>A (p.Ile770=)
|
rs765661419
|
|
NM_000170.3(GLDC):c.2310C>T (p.Ile770=)
|
rs765661419
|
|
NM_000170.3(GLDC):c.2315+6T>C
|
rs1817582202
|
|
NM_000170.3(GLDC):c.231G>C (p.Glu77Asp)
|
|
|
NM_000170.3(GLDC):c.2329G>A (p.Ala777Thr)
|
|
|
NM_000170.3(GLDC):c.2329G>T (p.Ala777Ser)
|
|
|
NM_000170.3(GLDC):c.2333C>G (p.Pro778Arg)
|
rs754670348
|
|
NM_000170.3(GLDC):c.2333C>T (p.Pro778Leu)
|
rs754670348
|
|
NM_000170.3(GLDC):c.2335T>C (p.Phe779Leu)
|
rs1817557171
|
|
NM_000170.3(GLDC):c.233T>C (p.Met78Thr)
|
rs2130031822
|
|
NM_000170.3(GLDC):c.2345A>G (p.Asn782Ser)
|
|
|
NM_000170.3(GLDC):c.234G>C (p.Met78Ile)
|
rs1282813808
|
|
NM_000170.3(GLDC):c.2353G>A (p.Val785Ile)
|
rs372101832
|
|
NM_000170.3(GLDC):c.2356A>G (p.Ile786Val)
|
|
|
NM_000170.3(GLDC):c.2377G>A (p.Asp793Asn)
|
rs776288649
|
|
NM_000170.3(GLDC):c.2381C>G (p.Ala794Gly)
|
rs1817556275
|
|
NM_000170.3(GLDC):c.2383T>A (p.Cys795Ser)
|
rs567167527
|
|
NM_000170.3(GLDC):c.2384G>C (p.Cys795Ser)
|
|
|
NM_000170.3(GLDC):c.2390T>G (p.Val797Gly)
|
|
|
NM_000170.3(GLDC):c.2396C>G (p.Thr799Ser)
|
|
|
NM_000170.3(GLDC):c.2396C>T (p.Thr799Ile)
|
rs772015252
|
|
NM_000170.3(GLDC):c.2397C>A (p.Thr799=)
|
rs778396953
|
|
NM_000170.3(GLDC):c.2402G>A (p.Ser801Asn)
|
rs1817555894
|
|
NM_000170.3(GLDC):c.2407_2408delinsTT (p.Ala803Phe)
|
|
|
NM_000170.3(GLDC):c.2410C>T (p.Pro804Ser)
|
rs2129714808
|
|
NM_000170.3(GLDC):c.2431T>G (p.Leu811Val)
|
rs2129714675
|
|
NM_000170.3(GLDC):c.2447C>T (p.Ala816Val)
|
rs2129714588
|
|
NM_000170.3(GLDC):c.2458A>G (p.Met820Val)
|
rs781682244
|
|
NM_000170.3(GLDC):c.245T>C (p.Leu82Ser)
|
rs386833559
|
|
NM_000170.3(GLDC):c.2461A>T (p.Met821Leu)
|
|
|
NM_000170.3(GLDC):c.2468G>A (p.Gly823Asp)
|
|
|
NM_000170.3(GLDC):c.247G>C (p.Gly83Arg)
|
rs946962875
|
|
NM_000170.3(GLDC):c.2485G>A (p.Ala829Thr)
|
|
|
NM_000170.3(GLDC):c.2501T>C (p.Ile834Thr)
|
|
|
NM_000170.3(GLDC):c.2502A>G (p.Ile834Met)
|
|
|
NM_000170.3(GLDC):c.2509G>T (p.Ala837Ser)
|
|
|
NM_000170.3(GLDC):c.2512A>C (p.Asn838His)
|
rs1817498068
|
|
NM_000170.3(GLDC):c.2519T>A (p.Met840Lys)
|
rs386833561
|
|
NM_000170.3(GLDC):c.2521G>C (p.Ala841Pro)
|
rs386833562
|
|
NM_000170.3(GLDC):c.2526G>C (p.Lys842Asn)
|
rs548033815
|
|
NM_000170.3(GLDC):c.2528G>A (p.Arg843Gln)
|
rs1422108790
|
|
NM_000170.3(GLDC):c.2537C>A (p.Thr846Lys)
|
|
|
NM_000170.3(GLDC):c.2537C>T (p.Thr846Ile)
|
rs747336541
|
|
NM_000170.3(GLDC):c.2552T>G (p.Leu851Arg)
|
rs753948580
|
|
NM_000170.3(GLDC):c.2561G>A (p.Gly854Asp)
|
rs1271552143
|
|
NM_000170.3(GLDC):c.2563G>A (p.Ala855Thr)
|
|
|
NM_000170.3(GLDC):c.2564C>T (p.Ala855Val)
|
rs764251972
|
|
NM_000170.3(GLDC):c.2567G>C (p.Arg856Thr)
|
|
|
NM_000170.3(GLDC):c.2569+8T>G
|
rs894742250
|
|
NM_000170.3(GLDC):c.2570-14A>G
|
|
|
NM_000170.3(GLDC):c.2573A>C (p.Tyr858Ser)
|
|
|
NM_000170.3(GLDC):c.2575G>T (p.Val859Leu)
|
rs1817224485
|
|
NM_000170.3(GLDC):c.2576T>A (p.Val859Glu)
|
rs2129663404
|
|
NM_000170.3(GLDC):c.2578G>C (p.Gly860Arg)
|
rs753759723
|
|
NM_000170.3(GLDC):c.2579G>T (p.Gly860Val)
|
rs2129663355
|
|
NM_000170.3(GLDC):c.2593T>A (p.Leu865Met)
|
rs375375700
|
|
NM_000170.3(GLDC):c.2597A>G (p.Asp866Gly)
|
rs1817224032
|
|
NM_000170.3(GLDC):c.2603G>C (p.Arg868Thr)
|
rs1376198157
|
|
NM_000170.3(GLDC):c.260T>C (p.Ile87Thr)
|
rs561846684
|
|
NM_000170.3(GLDC):c.2616G>C (p.Lys872Asn)
|
rs778913771
|
|
NM_000170.3(GLDC):c.2625T>G (p.Asn875Lys)
|
|
|
NM_000170.3(GLDC):c.2631_2639del (p.Glu877_Val879del)
|
rs1554642294
|
|
NM_000170.3(GLDC):c.2633C>T (p.Ala878Val)
|
rs2129663100
|
|
NM_000170.3(GLDC):c.263A>G (p.Asp88Gly)
|
|
|
NM_000170.3(GLDC):c.2647A>C (p.Lys883Gln)
|
rs2129663030
|
|
NM_000170.3(GLDC):c.2649G>C (p.Lys883Asn)
|
|
|
NM_000170.3(GLDC):c.264T>G (p.Asp88Glu)
|
|
|
NM_000170.3(GLDC):c.2650A>G (p.Arg884Gly)
|
rs1057515606
|
|
NM_000170.3(GLDC):c.2665+4A>C
|
|
|
NM_000170.3(GLDC):c.2674G>T (p.Ala892Ser)
|
|
|
NM_000170.3(GLDC):c.2690G>T (p.Trp897Leu)
|
|
|
NM_000170.3(GLDC):c.2695G>A (p.Val899Met)
|
rs2129649975
|
|
NM_000170.3(GLDC):c.26G>A (p.Gly9Glu)
|
|
|
NM_000170.3(GLDC):c.2723C>T (p.Thr908Ile)
|
|
|
NM_000170.3(GLDC):c.2729C>T (p.Ser910Leu)
|
rs759933539
|
|
NM_000170.3(GLDC):c.2736C>G (p.Asp912Glu)
|
|
|
NM_000170.3(GLDC):c.2746C>G (p.Leu916Val)
|
|
|
NM_000170.3(GLDC):c.2768T>C (p.Met923Thr)
|
rs2129649642
|
|
NM_000170.3(GLDC):c.2776A>G (p.Ile926Val)
|
|
|
NM_000170.3(GLDC):c.2779C>T (p.Arg927Trp)
|
|
|
NM_000170.3(GLDC):c.2780G>A (p.Arg927Gln)
|
rs934940369
|
|
NM_000170.3(GLDC):c.2783A>G (p.Gln928Arg)
|
|
|
NM_000170.3(GLDC):c.2785G>A (p.Glu929Lys)
|
|
|
NM_000170.3(GLDC):c.2798T>A (p.Ile933Asn)
|
rs758029533
|
|
NM_000170.3(GLDC):c.2798T>C (p.Ile933Thr)
|
rs758029533
|
|
NM_000170.3(GLDC):c.2802G>T (p.Glu934Asp)
|
|
|
NM_000170.3(GLDC):c.2806G>A (p.Gly936Ser)
|
|
|
NM_000170.3(GLDC):c.2815G>A (p.Asp939Asn)
|
|
|
NM_000170.3(GLDC):c.2819C>A (p.Pro940His)
|
rs2129649391
|
|
NM_000170.3(GLDC):c.2838+4C>T
|
rs200680938
|
|
NM_000170.3(GLDC):c.2839-3C>T
|
rs1252272018
|
|
NM_000170.3(GLDC):c.2841G>A (p.Met947Ile)
|
rs1214310966
|
|
NM_000170.3(GLDC):c.2843C>G (p.Ser948Cys)
|
rs1817084329
|
|
NM_000170.3(GLDC):c.2859C>G (p.Thr953=)
|
rs1817083513
|
|
NM_000170.3(GLDC):c.286C>T (p.Pro96Ser)
|
|
|
NM_000170.3(GLDC):c.2876A>C (p.His959Pro)
|
|
|
NM_000170.3(GLDC):c.2876A>G (p.His959Arg)
|
rs572523552
|
|
NM_000170.3(GLDC):c.2890T>C (p.Tyr964His)
|
|
|
NM_000170.3(GLDC):c.289G>A (p.Ala97Thr)
|
rs1587989978
|
|
NM_000170.3(GLDC):c.2900A>G (p.Glu967Gly)
|
|
|
NM_000170.3(GLDC):c.2901G>C (p.Glu967Asp)
|
rs1587908683
|
|
NM_000170.3(GLDC):c.2919+2dup
|
rs2129645182
|
|
NM_000170.3(GLDC):c.2919C>G (p.Leu973=)
|
rs113736090
|
|
NM_000170.3(GLDC):c.2920-1G>C
|
rs1474611877
|
|
NM_000170.3(GLDC):c.2920C>T (p.Pro974Ser)
|
rs949553434
|
|
NM_000170.3(GLDC):c.2930A>C (p.Lys977Thr)
|
rs2129641363
|
|
NM_000170.3(GLDC):c.2937G>C (p.Glu979Asp)
|
rs1271866161
|
|
NM_000170.3(GLDC):c.2947T>C (p.Trp983Arg)
|
rs1057515605
|
|
NM_000170.3(GLDC):c.2948G>A (p.Trp983Ter)
|
rs1554641519
|
|
NM_000170.3(GLDC):c.294C>A (p.Asn98Lys)
|
rs1819702080
|
|
NM_000170.3(GLDC):c.2954C>T (p.Thr985Met)
|
|
|
NM_000170.3(GLDC):c.2956A>T (p.Ile986Phe)
|
|
|
NM_000170.3(GLDC):c.2957T>C (p.Ile986Thr)
|
rs1817036068
|
|
NM_000170.3(GLDC):c.2962C>T (p.Arg988Trp)
|
rs1288008254
|
|
NM_000170.3(GLDC):c.2965A>G (p.Ile989Val)
|
|
|
NM_000170.3(GLDC):c.2970T>G (p.Asp990Glu)
|
|
|
NM_000170.3(GLDC):c.2978A>G (p.Tyr993Cys)
|
|
|
NM_000170.3(GLDC):c.2983G>A (p.Asp995Asn)
|
rs1554641505
|
|
NM_000170.3(GLDC):c.2983G>T (p.Asp995Tyr)
|
rs1554641505
|
|
NM_000170.3(GLDC):c.2990A>G (p.His997Arg)
|
rs2129641211
|
|
NM_000170.3(GLDC):c.2991C>A (p.His997Gln)
|
rs757398632
|
|
NM_000170.3(GLDC):c.2991C>G (p.His997Gln)
|
rs757398632
|
|
NM_000170.3(GLDC):c.2993T>G (p.Leu998Arg)
|
rs1817035007
|
|
NM_000170.3(GLDC):c.2995G>A (p.Val999Ile)
|
rs2129641188
|
|
NM_000170.3(GLDC):c.3007C>T (p.Pro1003Ser)
|
|
|
NM_000170.3(GLDC):c.3019G>A (p.Val1007Ile)
|
rs112299567
|
|
NM_000170.3(GLDC):c.3019G>T (p.Val1007Phe)
|
rs112299567
|
|
NM_000170.3(GLDC):c.3040G>T (p.Glu1014Ter)
|
rs1444245039
|
|
NM_000170.3(GLDC):c.3045A>T (p.Gln1015His)
|
rs2129641086
|
|
NM_000170.3(GLDC):c.3050G>A (p.Arg1017Lys)
|
rs1294726700
|
|
NM_000170.3(GLDC):c.3050G>T (p.Arg1017Met)
|
rs1294726700
|
|
NM_000170.3(GLDC):c.3053C>T (p.Ala1018Val)
|
|
|
NM_000170.3(GLDC):c.3061del (p.Ter1021SerextTer?)
|
|
|
NM_000170.3(GLDC):c.315G>T (p.Leu105Phe)
|
|
|
NM_000170.3(GLDC):c.316A>G (p.Lys106Glu)
|
|
|
NM_000170.3(GLDC):c.335G>A (p.Cys112Tyr)
|
|
|
NM_000170.3(GLDC):c.358C>G (p.Leu120Val)
|
rs758562313
|
|
NM_000170.3(GLDC):c.35T>C (p.Leu12Pro)
|
rs1819728347
|
|
NM_000170.3(GLDC):c.362A>G (p.His121Arg)
|
|
|
NM_000170.3(GLDC):c.365C>T (p.Ala122Val)
|
rs748248885
|
|
NM_000170.3(GLDC):c.367A>G (p.Ile123Val)
|
|
|
NM_000170.3(GLDC):c.371C>T (p.Ser124Leu)
|
rs1819062238
|
|
NM_000170.3(GLDC):c.381C>G (p.Asn127Lys)
|
rs767326222
|
|
NM_000170.3(GLDC):c.383A>G (p.Gln128Arg)
|
rs1819061825
|
|
NM_000170.3(GLDC):c.384G>C (p.Gln128His)
|
rs2129949115
|
|
NM_000170.3(GLDC):c.384G>T (p.Gln128His)
|
|
|
NM_000170.3(GLDC):c.398A>C (p.Tyr133Ser)
|
|
|
NM_000170.3(GLDC):c.421T>C (p.Cys141Arg)
|
rs759792163
|
|
NM_000170.3(GLDC):c.422G>A (p.Cys141Tyr)
|
rs1563864774
|
|
NM_000170.3(GLDC):c.431C>A (p.Pro144Gln)
|
rs747464155
|
|
NM_000170.3(GLDC):c.443T>C (p.Leu148Ser)
|
rs1819059273
|
|
NM_000170.3(GLDC):c.44G>A (p.Gly15Glu)
|
rs1405876098
|
|
NM_000170.3(GLDC):c.470+4A>G
|
rs2129948774
|
|
NM_000170.3(GLDC):c.472A>G (p.Ile158Val)
|
|
|
NM_000170.3(GLDC):c.493C>G (p.Gln165Glu)
|
rs2129916804
|
|
NM_000170.3(GLDC):c.49G>C (p.Gly17Arg)
|
|
|
NM_000170.3(GLDC):c.4C>A (p.Gln2Lys)
|
rs1554652870
|
|
NM_000170.3(GLDC):c.527T>C (p.Leu176Ser)
|
|
|
NM_000170.3(GLDC):c.533A>G (p.Asn178Ser)
|
|
|
NM_000170.3(GLDC):c.550T>A (p.Cys184Ser)
|
|
|
NM_000170.3(GLDC):c.551G>A (p.Cys184Tyr)
|
rs1263123723
|
|
NM_000170.3(GLDC):c.560C>G (p.Thr187Arg)
|
rs386833582
|
|
NM_000170.3(GLDC):c.575C>G (p.Ala192Gly)
|
rs2129916367
|
|
NM_000170.3(GLDC):c.580G>T (p.Ala194Ser)
|
|
|
NM_000170.3(GLDC):c.602C>G (p.Thr201Ser)
|
|
|
NM_000170.3(GLDC):c.609C>T (p.Ala203=)
|
rs201699152
|
|
NM_000170.3(GLDC):c.610G>A (p.Ala204Thr)
|
|
|
NM_000170.3(GLDC):c.622C>A (p.Gln208Lys)
|
|
|
NM_000170.3(GLDC):c.624G>T (p.Gln208His)
|
rs1385183318
|
|
NM_000170.3(GLDC):c.629G>A (p.Cys210Tyr)
|
|
|
NM_000170.3(GLDC):c.634A>C (p.Arg212=)
|
rs1212968746
|
|
NM_000170.3(GLDC):c.635+3G>C
|
|
|
NM_000170.3(GLDC):c.635G>A (p.Arg212Lys)
|
rs386833584
|
|
NM_000170.3(GLDC):c.636A>G (p.Arg212=)
|
|
|
NM_000170.3(GLDC):c.639CAA[1] (p.Asn214del)
|
rs1222749984
|
|
NM_000170.3(GLDC):c.642C>G (p.Asn214Lys)
|
rs775546889
|
|
NM_000170.3(GLDC):c.643A>G (p.Lys215Glu)
|
rs907616957
|
|
NM_000170.3(GLDC):c.646A>T (p.Arg216Trp)
|
|
|
NM_000170.3(GLDC):c.678C>A (p.His226Gln)
|
|
|
NM_000170.3(GLDC):c.689T>C (p.Ile230Thr)
|
|
|
NM_000170.3(GLDC):c.704C>G (p.Thr235Ser)
|
|
|
NM_000170.3(GLDC):c.70G>T (p.Gly24Trp)
|
|
|
NM_000170.3(GLDC):c.712A>C (p.Lys238Gln)
|
rs2129903388
|
|
NM_000170.3(GLDC):c.719C>A (p.Thr240Asn)
|
|
|
NM_000170.3(GLDC):c.719C>T (p.Thr240Ile)
|
rs1563857096
|
|
NM_000170.3(GLDC):c.71G>A (p.Gly24Glu)
|
rs967983950
|
|
NM_000170.3(GLDC):c.721G>A (p.Gly241Arg)
|
rs2129898592
|
|
NM_000170.3(GLDC):c.771A>T (p.Lys257Asn)
|
|
|
NM_000170.3(GLDC):c.772G>T (p.Asp258Tyr)
|
rs369719863
|
|
NM_000170.3(GLDC):c.775G>C (p.Val259Leu)
|
|
|
NM_000170.3(GLDC):c.782G>C (p.Gly261Ala)
|
|
|
NM_000170.3(GLDC):c.78G>A (p.Ser26=)
|
rs915226152
|
|
NM_000170.3(GLDC):c.790T>C (p.Phe264Leu)
|
rs1038444873
|
|
NM_000170.3(GLDC):c.811G>A (p.Gly271Arg)
|
rs1554648113
|
|
NM_000170.3(GLDC):c.815A>C (p.Lys272Thr)
|
|
|
NM_000170.3(GLDC):c.815A>G (p.Lys272Arg)
|
rs566939288
|
|
NM_000170.3(GLDC):c.815A>T (p.Lys272Met)
|
|
|
NM_000170.3(GLDC):c.825C>G (p.Asp275Glu)
|
rs1818704651
|
|
NM_000170.3(GLDC):c.827T>C (p.Phe276Ser)
|
rs967825860
|
|
NM_000170.3(GLDC):c.830C>G (p.Thr277Arg)
|
|
|
NM_000170.3(GLDC):c.830C>T (p.Thr277Met)
|
|
|
NM_000170.3(GLDC):c.835C>A (p.Leu279Ile)
|
|
|
NM_000170.3(GLDC):c.83C>T (p.Pro28Leu)
|
rs1819724719
|
|
NM_000170.3(GLDC):c.843G>T (p.Glu281Asp)
|
rs1563857008
|
|
NM_000170.3(GLDC):c.847G>A (p.Ala283Thr)
|
rs386833589
|
|
NM_000170.3(GLDC):c.851A>C (p.His284Pro)
|
rs1210767970
|
|
NM_000170.3(GLDC):c.858T>G (p.Ser286Arg)
|
|
|
NM_000170.3(GLDC):c.859G>C (p.Gly287Arg)
|
rs1291181951
|
|
NM_000170.3(GLDC):c.859G>T (p.Gly287Trp)
|
rs1291181951
|
|
NM_000170.3(GLDC):c.861+11C>G
|
rs757254927
|
|
NM_000170.3(GLDC):c.861+4G>A
|
|
|
NM_000170.3(GLDC):c.861+5G>A
|
rs192663616
|
|
NM_000170.3(GLDC):c.861+5G>C
|
rs192663616
|
|
NM_000170.3(GLDC):c.861G>C (p.Gly287=)
|
rs540315265
|
|
NM_000170.3(GLDC):c.861G>T (p.Gly287=)
|
|
|
NM_000170.3(GLDC):c.880A>G (p.Thr294Ala)
|
rs1818695779
|
|
NM_000170.3(GLDC):c.885C>G (p.Asp295Glu)
|
|
|
NM_000170.3(GLDC):c.886C>T (p.Leu296Phe)
|
rs200413149
|
|
NM_000170.3(GLDC):c.88T>A (p.Trp30Arg)
|
|
|
NM_000170.3(GLDC):c.89G>T (p.Trp30Leu)
|
|
|
NM_000170.3(GLDC):c.8C>A (p.Ser3Tyr)
|
|
|
NM_000170.3(GLDC):c.913C>A (p.Pro305Thr)
|
rs370964168
|
|
NM_000170.3(GLDC):c.91G>T (p.Ala31Ser)
|
|
|
NM_000170.3(GLDC):c.925G>A (p.Gly309Arg)
|
|
|
NM_000170.3(GLDC):c.926G>T (p.Gly309Val)
|
|
|
NM_000170.3(GLDC):c.931G>A (p.Asp311Asn)
|
|
|
NM_000170.3(GLDC):c.937G>A (p.Ala313Thr)
|
|
|
NM_000170.3(GLDC):c.937G>T (p.Ala313Ser)
|
|
|
NM_000170.3(GLDC):c.941T>C (p.Leu314Pro)
|
|
|
NM_000170.3(GLDC):c.953A>G (p.Gln318Arg)
|
|
|
NM_000170.3(GLDC):c.959T>C (p.Phe320Ser)
|
rs773173613
|
|
NM_000170.3(GLDC):c.95C>T (p.Pro32Leu)
|
|
|
NM_000170.3(GLDC):c.961G>C (p.Gly321Arg)
|
rs1184125501
|
|
NM_000170.3(GLDC):c.962G>C (p.Gly321Ala)
|
rs1818693650
|
|
NM_000170.3(GLDC):c.975C>G (p.Gly325=)
|
rs748941890
|
|
NM_000170.3(GLDC):c.976T>C (p.Tyr326His)
|
|
|
NM_000170.3(GLDC):c.97C>T (p.Arg33Trp)
|
|
|
NM_000170.3(GLDC):c.983G>A (p.Gly328Glu)
|
|
|
NM_000180.4(GUCY2D):c.2705T>C (p.Val902Ala)
|
rs1975935914
|
|
NM_000182.4(HADHA):c.-37T>C
|
rs528818728
|
|
NM_000182.5(HADHA):c.*103A>T
|
rs1360388686
|
|
NM_000182.5(HADHA):c.*373GT[1]
|
rs886055861
|
|
NM_000182.5(HADHA):c.*389C>G
|
rs886055860
|
|
NM_000182.5(HADHA):c.*458TG[3]
|
rs146500488
|
|
NM_000182.5(HADHA):c.*46G>A
|
rs367911534
|
|
NM_000182.5(HADHA):c.*489G>A
|
rs886055857
|
|
NM_000182.5(HADHA):c.*494G>T
|
rs886055856
|
|
NM_000182.5(HADHA):c.*59C>T
|
rs1669485295
|
|
NM_000182.5(HADHA):c.1039G>A (p.Val347Ile)
|
|
|
NM_000182.5(HADHA):c.1049A>G (p.Lys350Arg)
|
rs757845324
|
|
NM_000182.5(HADHA):c.1129G>A (p.Ala377Thr)
|
|
|
NM_000182.5(HADHA):c.1137C>G (p.Val379=)
|
rs1669919221
|
|
NM_000182.5(HADHA):c.1162A>T (p.Ile388Leu)
|
rs370054250
|
|
NM_000182.5(HADHA):c.1184C>A (p.Thr395Asn)
|
rs778263925
|
|
NM_000182.5(HADHA):c.1199G>C (p.Gly400Ala)
|
|
|
NM_000182.5(HADHA):c.1220+2_1220+5dup
|
rs1553313192
|
|
NM_000182.5(HADHA):c.1234G>T (p.Val412Leu)
|
rs770219903
|
|
NM_000182.5(HADHA):c.130G>A (p.Gly44Arg)
|
|
|
NM_000182.5(HADHA):c.134T>G (p.Val45Gly)
|
|
|
NM_000182.5(HADHA):c.1393-3C>T
|
|
|
NM_000182.5(HADHA):c.1393G>C (p.Val465Leu)
|
rs1226499517
|
|
NM_000182.5(HADHA):c.13C>T (p.Arg5Trp)
|
|
|
NM_000182.5(HADHA):c.1432G>C (p.Ala478Pro)
|
rs1669713015
|
|
NM_000182.5(HADHA):c.1480-139C>G
|
|
|
NM_000182.5(HADHA):c.1480-3C>T
|
|
|
NM_000182.5(HADHA):c.1493A>G (p.His498Arg)
|
rs752005568
|
|
NM_000182.5(HADHA):c.1538C>T (p.Thr513Met)
|
|
|
NM_000182.5(HADHA):c.1543G>A (p.Glu515Lys)
|
rs763353852
|
|
NM_000182.5(HADHA):c.157C>A (p.Arg53=)
|
rs147103714
|
|
NM_000182.5(HADHA):c.1618A>G (p.Lys540Glu)
|
|
|
NM_000182.5(HADHA):c.161T>G (p.Ile54Ser)
|
rs2147785483
|
|
NM_000182.5(HADHA):c.1652T>G (p.Leu551Arg)
|
|
|
NM_000182.5(HADHA):c.1667C>G (p.Ser556Cys)
|
rs2147753043
|
|
NM_000182.5(HADHA):c.16G>C (p.Ala6Pro)
|
rs150565988
|
|
NM_000182.5(HADHA):c.1705AAG[1] (p.Lys570del)
|
rs1553312059
|
|
NM_000182.5(HADHA):c.1712T>C (p.Leu571Pro)
|
rs1553312058
|
|
NM_000182.5(HADHA):c.1729A>T (p.Ser577Cys)
|
|
|
NM_000182.5(HADHA):c.173A>G (p.Asn58Ser)
|
|
|
NM_000182.5(HADHA):c.1745T>C (p.Val582Ala)
|
rs1574602341
|
|
NM_000182.5(HADHA):c.1772T>G (p.Val591Gly)
|
rs1574602310
|
|
NM_000182.5(HADHA):c.1801G>A (p.Glu601Lys)
|
|
|
NM_000182.5(HADHA):c.1808T>C (p.Leu603Pro)
|
|
|
NM_000182.5(HADHA):c.1812C>T (p.Gly604=)
|
|
|
NM_000182.5(HADHA):c.1828C>G (p.Arg610Gly)
|
rs267599303
|
|
NM_000182.5(HADHA):c.1867G>A (p.Val623Met)
|
|
|
NM_000182.5(HADHA):c.1888C>G (p.Arg630Gly)
|
|
|
NM_000182.5(HADHA):c.1917_1919dup (p.Tyr639_Gln640insHis)
|
rs796051971
|
|
NM_000182.5(HADHA):c.1931A>G (p.Lys644Arg)
|
|
|
NM_000182.5(HADHA):c.1961G>A (p.Ser654Asn)
|
|
|
NM_000182.5(HADHA):c.1969G>T (p.Ala657Ser)
|
rs374174659
|
|
NM_000182.5(HADHA):c.1994C>T (p.Ser665Phe)
|
rs1669530829
|
|
NM_000182.5(HADHA):c.2000+5G>C
|
|
|
NM_000182.5(HADHA):c.2005T>G (p.Ser669Ala)
|
rs1669507749
|
|
NM_000182.5(HADHA):c.2027G>T (p.Arg676Leu)
|
rs1204190984
|
|
NM_000182.5(HADHA):c.2063G>A (p.Cys688Tyr)
|
rs1669504364
|
|
NM_000182.5(HADHA):c.2077A>G (p.Ile693Val)
|
|
|
NM_000182.5(HADHA):c.2087C>T (p.Thr696Ile)
|
rs2147749338
|
|
NM_000182.5(HADHA):c.2102A>G (p.Asp701Gly)
|
rs1553311698
|
|
NM_000182.5(HADHA):c.2146+19G>C
|
|
|
NM_000182.5(HADHA):c.2147-2A>G
|
|
|
NM_000182.5(HADHA):c.2185A>G (p.Ile729Val)
|
|
|
NM_000182.5(HADHA):c.2194C>T (p.Arg732Trp)
|
|
|
NM_000182.5(HADHA):c.2209G>C (p.Glu737Gln)
|
|
|
NM_000182.5(HADHA):c.2215G>T (p.Ala739Ser)
|
rs141164185
|
|
NM_000182.5(HADHA):c.2226_2228dup (p.Gln743dup)
|
rs1553311646
|
|
NM_000182.5(HADHA):c.2273_2276dup (p.Lys760fs)
|
rs1553311633
|
|
NM_000182.5(HADHA):c.230A>G (p.Asn77Ser)
|
|
|
NM_000182.5(HADHA):c.252A>C (p.Gln84His)
|
rs2147784410
|
|
NM_000182.5(HADHA):c.265G>A (p.Val89Ile)
|
|
|
NM_000182.5(HADHA):c.269T>G (p.Leu90Arg)
|
rs2147784395
|
|
NM_000182.5(HADHA):c.282G>C (p.Lys94Asn)
|
|
|
NM_000182.5(HADHA):c.2TGG[1] (p.Val2del)
|
rs1553316724
|
|
NM_000182.5(HADHA):c.362A>G (p.Gln121Arg)
|
|
|
NM_000182.5(HADHA):c.403A>G (p.Lys135Glu)
|
rs794727700
|
|
NM_000182.5(HADHA):c.431C>T (p.Ser144Phe)
|
rs758107197
|
|
NM_000182.5(HADHA):c.454-13C>T
|
rs367636661
|
|
NM_000182.5(HADHA):c.467G>A (p.Cys156Tyr)
|
rs1670643151
|
|
NM_000182.5(HADHA):c.496A>G (p.Lys166Glu)
|
|
|
NM_000182.5(HADHA):c.512C>T (p.Thr171Ile)
|
|
|
NM_000182.5(HADHA):c.560G>A (p.Arg187Lys)
|
|
|
NM_000182.5(HADHA):c.573G>A (p.Met191Ile)
|
rs2147781167
|
|
NM_000182.5(HADHA):c.574-4dup
|
rs763636903
|
|
NM_000182.5(HADHA):c.623G>A (p.Arg208His)
|
|
|
NM_000182.5(HADHA):c.676+6T>C
|
rs886055863
|
|
NM_000182.5(HADHA):c.704G>A (p.Arg235Gln)
|
|
|
NM_000182.5(HADHA):c.711A>G (p.Ile237Met)
|
|
|
NM_000182.5(HADHA):c.713A>C (p.Glu238Ala)
|
|
|
NM_000182.5(HADHA):c.734T>G (p.Ile245Ser)
|
|
|
NM_000182.5(HADHA):c.73A>G (p.Ile25Val)
|
|
|
NM_000182.5(HADHA):c.743C>T (p.Ala248Val)
|
rs199688741
|
|
NM_000182.5(HADHA):c.767T>A (p.Ile256Asn)
|
rs1490396477
|
|
NM_000182.5(HADHA):c.785A>C (p.Lys262Thr)
|
|
|
NM_000182.5(HADHA):c.799+5G>A
|
|
|
NM_000182.5(HADHA):c.800A>G (p.Lys267Arg)
|
|
|
NM_000182.5(HADHA):c.808G>A (p.Ala270Thr)
|
rs1574615066
|
|
NM_000182.5(HADHA):c.80G>A (p.Arg27His)
|
rs200145855
|
|
NM_000182.5(HADHA):c.80G>T (p.Arg27Leu)
|
rs200145855
|
|
NM_000182.5(HADHA):c.901C>A (p.Pro301Thr)
|
|
|
NM_000182.5(HADHA):c.932G>C (p.Gly311Ala)
|
rs886055862
|
|
NM_000182.5(HADHA):c.944G>A (p.Gly315Glu)
|
|
|
NM_000182.5(HADHA):c.975G>A (p.Gln325=)
|
rs751970693
|
|
NM_000182.5(HADHA):c.995T>C (p.Met332Thr)
|
|
|
NM_000182.5(HADHA):c.995T>G (p.Met332Arg)
|
rs752285354
|
|
NM_000187.3(HGD):c.-163C>G
|
rs556156265
|
|
NM_000187.3(HGD):c.-241A>G
|
rs886057819
|
|
NM_000187.3(HGD):c.-407C>T
|
rs886057821
|
|
NM_000187.4(HGD):c.*117G>A
|
rs1940481443
|
|
NM_000187.4(HGD):c.1040G>A (p.Arg347Gln)
|
|
|
NM_000187.4(HGD):c.1061A>C (p.Gln354Pro)
|
|
|
NM_000187.4(HGD):c.1061A>G (p.Gln354Arg)
|
|
|
NM_000187.4(HGD):c.1081G>A (p.Gly361Arg)
|
rs765219004
|
|
NM_000187.4(HGD):c.109T>G (p.Tyr37Asp)
|
|
|
NM_000187.4(HGD):c.1106C>A (p.Thr369Asn)
|
rs765912447
|
|
NM_000187.4(HGD):c.1115G>T (p.Gly372Val)
|
rs1940645751
|
|
NM_000187.4(HGD):c.1120G>C (p.Asp374His)
|
rs981454067
|
|
NM_000187.4(HGD):c.1162C>T (p.Pro388Ser)
|
|
|
NM_000187.4(HGD):c.1189-4C>T
|
rs1940489783
|
|
NM_000187.4(HGD):c.1281G>A (p.Trp427Ter)
|
|
|
NM_000187.4(HGD):c.164_166del (p.Thr55del)
|
rs1708093744
|
|
NM_000187.4(HGD):c.278A>G (p.Asn93Ser)
|
|
|
NM_000187.4(HGD):c.282+5C>A
|
|
|
NM_000187.4(HGD):c.283-18T>A
|
|
|
NM_000187.4(HGD):c.401A>G (p.His134Arg)
|
|
|
NM_000187.4(HGD):c.43T>C (p.Ser15Pro)
|
rs2107557717
|
|
NM_000187.4(HGD):c.447T>A (p.Asn149Lys)
|
rs2107513499
|
|
NM_000187.4(HGD):c.455G>C (p.Gly152Ala)
|
rs1553717936
|
|
NM_000187.4(HGD):c.474G>A (p.Pro158=)
|
rs2293734
|
|
NM_000187.4(HGD):c.48A>G (p.Ser16=)
|
rs886057818
|
|
NM_000187.4(HGD):c.499A>G (p.Thr167Ala)
|
|
|
NM_000187.4(HGD):c.518T>A (p.Leu173His)
|
|
|
NM_000187.4(HGD):c.518T>C (p.Leu173Pro)
|
|
|
NM_000187.4(HGD):c.541G>A (p.Val181Ile)
|
|
|
NM_000187.4(HGD):c.559C>G (p.Arg187Gly)
|
rs756255206
|
|
NM_000187.4(HGD):c.880-4A>G
|
rs781667761
|
|
NM_000187.4(HGD):c.931G>A (p.Ala311Thr)
|
|
|
NM_000187.4(HGD):c.95C>A (p.Pro32His)
|
|
|
NM_000188.3(HK1):c.1525G>A (p.Val509Ile)
|
rs2132886004
|
|
NM_000191.3(HMGCL):c.*290T>C
|
rs886046311
|
|
NM_000191.3(HMGCL):c.112G>T (p.Val38Phe)
|
|
|
NM_000191.3(HMGCL):c.116G>A (p.Gly39Asp)
|
|
|
NM_000191.3(HMGCL):c.12G>A (p.Met4Ile)
|
|
|
NM_000191.3(HMGCL):c.144+4A>G
|
|
|
NM_000191.3(HMGCL):c.145A>G (p.Asn49Asp)
|
|
|
NM_000191.3(HMGCL):c.160C>G (p.Pro54Ala)
|
|
|
NM_000191.3(HMGCL):c.16A>G (p.Lys6Glu)
|
|
|
NM_000191.3(HMGCL):c.173A>G (p.Lys58Arg)
|
rs1638633961
|
|
NM_000191.3(HMGCL):c.182A>G (p.Asp61Gly)
|
|
|
NM_000191.3(HMGCL):c.184A>T (p.Met62Leu)
|
rs373738626
|
|
NM_000191.3(HMGCL):c.187C>T (p.Leu63Phe)
|
|
|
NM_000191.3(HMGCL):c.20C>G (p.Ala7Gly)
|
rs754437215
|
|
NM_000191.3(HMGCL):c.20C>T (p.Ala7Val)
|
rs754437215
|
|
NM_000191.3(HMGCL):c.218C>A (p.Thr73Asn)
|
rs1570652345
|
|
NM_000191.3(HMGCL):c.233C>T (p.Ser78Phe)
|
|
|
NM_000191.3(HMGCL):c.254T>C (p.Met85Thr)
|
rs886046314
|
|
NM_000191.3(HMGCL):c.294T>A (p.Phe98Leu)
|
|
|
NM_000191.3(HMGCL):c.2T>C (p.Met1Thr)
|
rs2148428492
|
|
NM_000191.3(HMGCL):c.322C>T (p.Pro108Ser)
|
rs2148423771
|
|
NM_000191.3(HMGCL):c.331A>G (p.Lys111Glu)
|
rs1638619737
|
|
NM_000191.3(HMGCL):c.348G>A (p.Ala116=)
|
|
|
NM_000191.3(HMGCL):c.386C>G (p.Ala129Gly)
|
rs1244160232
|
|
NM_000191.3(HMGCL):c.41G>T (p.Gly14Val)
|
|
|
NM_000191.3(HMGCL):c.428T>C (p.Ile143Thr)
|
|
|
NM_000191.3(HMGCL):c.437G>A (p.Ser146Asn)
|
rs1638574066
|
|
NM_000191.3(HMGCL):c.482A>G (p.Asn161Ser)
|
|
|
NM_000191.3(HMGCL):c.497+3G>A
|
rs763178392
|
|
NM_000191.3(HMGCL):c.497G>T (p.Gly166Val)
|
rs2148422419
|
|
NM_000191.3(HMGCL):c.528T>C (p.Tyr176=)
|
rs112508527
|
|
NM_000191.3(HMGCL):c.540C>G (p.Ile180Met)
|
rs2148420690
|
|
NM_000191.3(HMGCL):c.565A>C (p.Thr189Pro)
|
|
|
NM_000191.3(HMGCL):c.595G>C (p.Glu199Gln)
|
|
|
NM_000191.3(HMGCL):c.5C>T (p.Ala2Val)
|
|
|
NM_000191.3(HMGCL):c.60+6T>A
|
|
|
NM_000191.3(HMGCL):c.608G>A (p.Gly203Glu)
|
rs1553131940
|
|
NM_000191.3(HMGCL):c.614C>G (p.Thr205Ser)
|
rs1445870588
|
|
NM_000191.3(HMGCL):c.629C>T (p.Thr210Ile)
|
rs1570645382
|
|
NM_000191.3(HMGCL):c.630C>T (p.Thr210=)
|
rs886046313
|
|
NM_000191.3(HMGCL):c.649A>G (p.Met217Val)
|
rs767993106
|
|
NM_000191.3(HMGCL):c.661G>A (p.Val221Ile)
|
rs745624801
|
|
NM_000191.3(HMGCL):c.678_686dup (p.Ala229_Ala231dup)
|
rs1553131921
|
|
NM_000191.3(HMGCL):c.685G>A (p.Ala229Thr)
|
|
|
NM_000191.3(HMGCL):c.686C>A (p.Ala229Asp)
|
rs752913892
|
|
NM_000191.3(HMGCL):c.708C>T (p.Asp236=)
|
rs886046312
|
|
NM_000191.3(HMGCL):c.713A>G (p.Tyr238Cys)
|
|
|
NM_000191.3(HMGCL):c.721G>A (p.Ala241Thr)
|
rs763416473
|
|
NM_000191.3(HMGCL):c.743C>T (p.Ala248Val)
|
|
|
NM_000191.3(HMGCL):c.750+14T>A
|
rs778868742
|
|
NM_000191.3(HMGCL):c.750+6C>T
|
|
|
NM_000191.3(HMGCL):c.751-10_751-9del
|
rs1638366878
|
|
NM_000191.3(HMGCL):c.751-3T>C
|
rs1356054021
|
|
NM_000191.3(HMGCL):c.760A>G (p.Ser254Gly)
|
|
|
NM_000191.3(HMGCL):c.765C>T (p.Val255=)
|
rs778296169
|
|
NM_000191.3(HMGCL):c.76A>T (p.Met26Leu)
|
rs756958205
|
|
NM_000191.3(HMGCL):c.793G>A (p.Gly265Ser)
|
|
|
NM_000191.3(HMGCL):c.795C>G (p.Gly265=)
|
rs1488079271
|
|
NM_000191.3(HMGCL):c.799C>T (p.Pro267Ser)
|
rs1220289416
|
|
NM_000191.3(HMGCL):c.800C>A (p.Pro267His)
|
rs750347526
|
|
NM_000191.3(HMGCL):c.806C>T (p.Ala269Val)
|
|
|
NM_000191.3(HMGCL):c.811G>A (p.Gly271Arg)
|
|
|
NM_000191.3(HMGCL):c.814G>T (p.Ala272Ser)
|
rs1638363983
|
|
NM_000191.3(HMGCL):c.824A>G (p.Asn275Ser)
|
|
|
NM_000191.3(HMGCL):c.825C>G (p.Asn275Lys)
|
rs1287973337
|
|
NM_000191.3(HMGCL):c.841C>G (p.Leu281Val)
|
rs1638363122
|
|
NM_000191.3(HMGCL):c.866G>A (p.Gly289Asp)
|
|
|
NM_000191.3(HMGCL):c.875C>T (p.Thr292Met)
|
rs1638362250
|
|
NM_000191.3(HMGCL):c.876G>T (p.Thr292=)
|
|
|
NM_000191.3(HMGCL):c.878G>C (p.Gly293Ala)
|
|
|
NM_000191.3(HMGCL):c.899T>C (p.Leu300Pro)
|
rs2148415814
|
|
NM_000191.3(HMGCL):c.89C>T (p.Pro30Leu)
|
rs1638700415
|
|
NM_000191.3(HMGCL):c.8C>T (p.Ala3Val)
|
rs1638800964
|
|
NM_000191.3(HMGCL):c.920G>A (p.Cys307Tyr)
|
|
|
NM_000191.3(HMGCL):c.933C>G (p.Asn311Lys)
|
rs1194563406
|
|
NM_000191.3(HMGCL):c.945C>G (p.Ser315Arg)
|
rs1557484629
|
|
NM_000191.3(HMGCL):c.958C>T (p.Gln320Ter)
|
rs1553131326
|
|
NM_000191.3(HMGCL):c.962C>A (p.Ala321Asp)
|
|
|
NM_000191.3(HMGCL):c.976T>C (p.Ter326Arg)
|
rs1553131320
|
|
NM_000191.3(HMGCL):c.977G>C (p.Ter326Ser)
|
rs1303767209
|
|
NM_000240.4(MAOA):c.1052+4G>C
|
|
|
NM_000240.4(MAOA):c.1081C>G (p.Leu361Val)
|
|
|
NM_000240.4(MAOA):c.1094A>G (p.His365Arg)
|
|
|
NM_000240.4(MAOA):c.1253A>G (p.Gln418Arg)
|
|
|
NM_000240.4(MAOA):c.1279G>A (p.Val427Met)
|
|
|
NM_000240.4(MAOA):c.1279G>T (p.Val427Leu)
|
|
|
NM_000240.4(MAOA):c.1361G>A (p.Arg454Gln)
|
rs2033978967
|
|
NM_000240.4(MAOA):c.1390G>A (p.Gly464Arg)
|
|
|
NM_000240.4(MAOA):c.1418T>C (p.Val473Ala)
|
|
|
NM_000240.4(MAOA):c.1437+4A>T
|
|
|
NM_000240.4(MAOA):c.1440C>A (p.Asp480Glu)
|
rs367715125
|
|
NM_000240.4(MAOA):c.1549G>C (p.Val517Leu)
|
|
|
NM_000240.4(MAOA):c.1564A>G (p.Lys522Glu)
|
|
|
NM_000240.4(MAOA):c.1567C>T (p.Leu523Phe)
|
rs2033984974
|
|
NM_000240.4(MAOA):c.163A>C (p.Ile55Leu)
|
|
|
NM_000240.4(MAOA):c.163A>G (p.Ile55Val)
|
|
|
NM_000240.4(MAOA):c.188T>C (p.Val63Ala)
|
|
|
NM_000240.4(MAOA):c.290T>C (p.Leu97Pro)
|
rs2147085459
|
|
NM_000240.4(MAOA):c.3G>A (p.Met1Ile)
|
rs1601921232
|
|
NM_000240.4(MAOA):c.411+12G>A
|
rs2033703535
|
|
NM_000240.4(MAOA):c.421G>A (p.Asp141Asn)
|
|
|
NM_000240.4(MAOA):c.56T>C (p.Ile19Thr)
|
|
|
NM_000240.4(MAOA):c.635A>G (p.Asn212Ser)
|
|
|
NM_000240.4(MAOA):c.645+13T>A
|
|
|
NM_000240.4(MAOA):c.650G>A (p.Arg217Gln)
|
|
|
NM_000240.4(MAOA):c.736C>A (p.His246Asn)
|
|
|
NM_000240.4(MAOA):c.766A>G (p.Ile256Val)
|
rs2147102887
|
|
NM_000240.4(MAOA):c.796-10T>C
|
|
|
NM_000240.4(MAOA):c.812A>G (p.Asn271Ser)
|
rs2147103024
|
|
NM_000240.4(MAOA):c.955+4G>A
|
|
|
NM_000254.3(MTR):c.1020T>G (p.Asn340Lys)
|
rs1322031909
|
|
NM_000254.3(MTR):c.1027C>G (p.Pro343Ala)
|
|
|
NM_000254.3(MTR):c.1040C>T (p.Pro347Leu)
|
|
|
NM_000254.3(MTR):c.1174G>A (p.Ala392Thr)
|
|
|
NM_000254.3(MTR):c.1247A>G (p.Asn416Ser)
|
|
|
NM_000254.3(MTR):c.1251G>T (p.Met417Ile)
|
rs2103148829
|
|
NM_000254.3(MTR):c.1271G>A (p.Gly424Asp)
|
rs2103149012
|
|
NM_000254.3(MTR):c.128G>A (p.Arg43Gln)
|
rs143088011
|
|
NM_000254.3(MTR):c.128_129delinsTT (p.Arg43Leu)
|
rs1660806761
|
|
NM_000254.3(MTR):c.1325C>A (p.Ala442Glu)
|
rs770004849
|
|
NM_000254.3(MTR):c.1348_1349inv (p.Ser450Asp)
|
|
|
NM_000254.3(MTR):c.1394G>A (p.Gly465Glu)
|
|
|
NM_000254.3(MTR):c.1409A>G (p.Asn470Ser)
|
rs2103166386
|
|
NM_000254.3(MTR):c.1522G>C (p.Glu508Gln)
|
rs1572261571
|
|
NM_000254.3(MTR):c.1544T>G (p.Val515Gly)
|
rs1663828645
|
|
NM_000254.3(MTR):c.1549A>G (p.Thr517Ala)
|
|
|
NM_000254.3(MTR):c.1549A>T (p.Thr517Ser)
|
|
|
NM_000254.3(MTR):c.1575A>T (p.Lys525Asn)
|
rs199700767
|
|
NM_000254.3(MTR):c.1615A>G (p.Asn539Asp)
|
|
|
NM_000254.3(MTR):c.1695+6T>C
|
|
|
NM_000254.3(MTR):c.1712C>G (p.Ala571Gly)
|
|
|
NM_000254.3(MTR):c.1871A>C (p.His624Pro)
|
|
|
NM_000254.3(MTR):c.1892G>C (p.Cys631Ser)
|
|
|
NM_000254.3(MTR):c.194G>A (p.Gly65Asp)
|
|
|
NM_000254.3(MTR):c.1953+3A>G
|
rs781246271
|
|
NM_000254.3(MTR):c.1969G>C (p.Gly657Arg)
|
rs1664416870
|
|
NM_000254.3(MTR):c.1986G>T (p.Gln662His)
|
rs1664418343
|
|
NM_000254.3(MTR):c.1992T>A (p.Asp664Glu)
|
|
|
NM_000254.3(MTR):c.2020C>A (p.Arg674Ser)
|
rs150058137
|
|
NM_000254.3(MTR):c.2044-1G>T
|
|
|
NM_000254.3(MTR):c.2045G>A (p.Gly682Asp)
|
|
|
NM_000254.3(MTR):c.2104C>A (p.Pro702Thr)
|
|
|
NM_000254.3(MTR):c.2108G>A (p.Arg703Gln)
|
|
|
NM_000254.3(MTR):c.2119A>G (p.Ile707Val)
|
|
|
NM_000254.3(MTR):c.2165T>C (p.Leu722Pro)
|
rs1553321807
|
|
NM_000254.3(MTR):c.2180A>G (p.Lys727Arg)
|
|
|
NM_000254.3(MTR):c.2196+5G>A
|
rs2103301889
|
|
NM_000254.3(MTR):c.2200A>G (p.Ile734Val)
|
|
|
NM_000254.3(MTR):c.2213G>A (p.Arg738Gln)
|
|
|
NM_000254.3(MTR):c.2221A>G (p.Lys741Glu)
|
|
|
NM_000254.3(MTR):c.2242A>G (p.Ile748Val)
|
|
|
NM_000254.3(MTR):c.2249T>C (p.Phe750Ser)
|
rs1664588529
|
|
NM_000254.3(MTR):c.2282T>A (p.Leu761His)
|
rs1664590593
|
|
NM_000254.3(MTR):c.2299G>C (p.Glu767Gln)
|
|
|
NM_000254.3(MTR):c.2304+3A>C
|
rs1572283994
|
|
NM_000254.3(MTR):c.2308C>G (p.Pro770Ala)
|
rs968363996
|
|
NM_000254.3(MTR):c.2333C>T (p.Ala778Val)
|
rs2103313543
|
|
NM_000254.3(MTR):c.2347G>A (p.Asp783Asn)
|
|
|
NM_000254.3(MTR):c.2356G>A (p.Asp786Asn)
|
|
|
NM_000254.3(MTR):c.2395A>G (p.Asn799Asp)
|
|
|
NM_000254.3(MTR):c.2405G>A (p.Arg802Gln)
|
rs760932771
|
|
NM_000254.3(MTR):c.2472A>T (p.Ala824=)
|
rs1665277178
|
|
NM_000254.3(MTR):c.2531C>T (p.Ala844Val)
|
|
|
NM_000254.3(MTR):c.2546G>C (p.Arg849Thr)
|
rs2147881808
|
|
NM_000254.3(MTR):c.2594+1_2594+36dup
|
|
|
NM_000254.3(MTR):c.2594+5G>A
|
|
|
NM_000254.3(MTR):c.2640_2642del (p.Ile881del)
|
rs797044443
|
|
NM_000254.3(MTR):c.2647G>A (p.Val883Ile)
|
|
|
NM_000254.3(MTR):c.2665A>C (p.Ser889Arg)
|
rs1553326540
|
|
NM_000254.3(MTR):c.2671G>A (p.Val891Met)
|
|
|
NM_000254.3(MTR):c.271G>C (p.Asp91His)
|
|
|
NM_000254.3(MTR):c.2744A>T (p.Asp915Val)
|
rs977928036
|
|
NM_000254.3(MTR):c.2775+4A>G
|
|
|
NM_000254.3(MTR):c.2822A>T (p.Gln941Leu)
|
|
|
NM_000254.3(MTR):c.2826G>A (p.Met942Ile)
|
|
|
NM_000254.3(MTR):c.2858C>T (p.Pro953Leu)
|
|
|
NM_000254.3(MTR):c.2866A>G (p.Ile956Val)
|
|
|
NM_000254.3(MTR):c.2890T>C (p.Tyr964His)
|
rs779579945
|
|
NM_000254.3(MTR):c.296G>A (p.Ser99Asn)
|
|
|
NM_000254.3(MTR):c.3008-3T>C
|
rs1286783552
|
|
NM_000254.3(MTR):c.3032A>G (p.Asp1011Gly)
|
rs1666296405
|
|
NM_000254.3(MTR):c.3046A>G (p.Met1016Val)
|
|
|
NM_000254.3(MTR):c.3077T>C (p.Leu1026Pro)
|
|
|
NM_000254.3(MTR):c.3080G>A (p.Arg1027Gln)
|
rs2147939390
|
|
NM_000254.3(MTR):c.3085C>T (p.Arg1029Trp)
|
|
|
NM_000254.3(MTR):c.3115A>C (p.Ser1039Arg)
|
|
|
NM_000254.3(MTR):c.3115A>G (p.Ser1039Gly)
|
|
|
NM_000254.3(MTR):c.3140A>T (p.Tyr1047Phe)
|
rs1572341910
|
|
NM_000254.3(MTR):c.3143_3144inv (p.Ala1048Val)
|
|
|
NM_000254.3(MTR):c.3155T>G (p.Val1052Gly)
|
rs1666303969
|
|
NM_000254.3(MTR):c.3205-9G>A
|
rs1666501324
|
|
NM_000254.3(MTR):c.3250G>T (p.Asp1084Tyr)
|
rs1666504883
|
|
NM_000254.3(MTR):c.3269A>G (p.His1090Arg)
|
|
|
NM_000254.3(MTR):c.3315T>G (p.Phe1105Leu)
|
rs1221565565
|
|
NM_000254.3(MTR):c.3322G>A (p.Glu1108Lys)
|
rs1666509852
|
|
NM_000254.3(MTR):c.3341A>G (p.Tyr1114Cys)
|
|
|
NM_000254.3(MTR):c.3375G>A (p.Met1125Ile)
|
|
|
NM_000254.3(MTR):c.3395G>A (p.Arg1132Gln)
|
rs1305962485
|
|
NM_000254.3(MTR):c.33C>T (p.Pro11=)
|
|
|
NM_000254.3(MTR):c.3424C>T (p.His1142Tyr)
|
|
|
NM_000254.3(MTR):c.3478G>A (p.Val1160Ile)
|
|
|
NM_000254.3(MTR):c.349A>C (p.Met117Leu)
|
rs143180799
|
|
NM_000254.3(MTR):c.349A>G (p.Met117Val)
|
rs143180799
|
|
NM_000254.3(MTR):c.35-20A>G
|
|
|
NM_000254.3(MTR):c.3514C>T (p.Arg1172Cys)
|
rs756440911
|
|
NM_000254.3(MTR):c.3515G>C (p.Arg1172Pro)
|
rs778432496
|
|
NM_000254.3(MTR):c.3548A>G (p.His1183Arg)
|
|
|
NM_000254.3(MTR):c.3592T>C (p.Ser1198Pro)
|
rs2147955084
|
|
NM_000254.3(MTR):c.3677A>G (p.Lys1226Arg)
|
rs777562650
|
|
NM_000254.3(MTR):c.3678A>G (p.Lys1226=)
|
rs2147961173
|
|
NM_000254.3(MTR):c.3695A>G (p.Lys1232Arg)
|
|
|
NM_000254.3(MTR):c.3717G>C (p.Glu1239Asp)
|
rs2147965312
|
|
NM_000254.3(MTR):c.3718G>T (p.Asp1240Tyr)
|
|
|
NM_000254.3(MTR):c.452A>G (p.Lys151Arg)
|
rs2103039190
|
|
NM_000254.3(MTR):c.485C>T (p.Pro162Leu)
|
|
|
NM_000254.3(MTR):c.614C>T (p.Ala205Val)
|
|
|
NM_000254.3(MTR):c.621T>G (p.Phe207Leu)
|
|
|
NM_000254.3(MTR):c.63G>C (p.Glu21Asp)
|
|
|
NM_000254.3(MTR):c.648A>T (p.Lys216Asn)
|
|
|
NM_000254.3(MTR):c.661C>G (p.Pro221Ala)
|
|
|
NM_000254.3(MTR):c.761T>A (p.Leu254His)
|
rs2103062352
|
|
NM_000254.3(MTR):c.762C>T (p.Leu254=)
|
rs1661602756
|
|
NM_000254.3(MTR):c.764G>A (p.Cys255Tyr)
|
|
|
NM_000254.3(MTR):c.80A>G (p.Gln27Arg)
|
rs1039659576
|
|
NM_000254.3(MTR):c.877A>G (p.Thr293Ala)
|
rs2103101092
|
|
NM_000254.3(MTR):c.901C>T (p.Pro301Ser)
|
rs766371534
|
|
NM_000254.3(MTR):c.907A>G (p.Met303Val)
|
|
|
NM_000255.4(MMUT):c.*1182T>C
|
rs1766948465
|
|
NM_000255.4(MMUT):c.*162A>C
|
rs886061557
|
|
NM_000255.4(MMUT):c.*43G>T
|
rs868855862
|
|
NM_000255.4(MMUT):c.*775A>G
|
rs886061553
|
|
NM_000255.4(MMUT):c.-155del
|
rs886061562
|
|
NM_000255.4(MMUT):c.-35G>T
|
rs483352795
|
|
NM_000255.4(MMUT):c.1011T>A (p.Phe337Leu)
|
rs1581831934
|
|
NM_000255.4(MMUT):c.1156C>A (p.His386Asn)
|
rs1554159937
|
|
NM_000255.4(MMUT):c.1219A>T (p.Asn407Tyr)
|
rs576536579
|
|
NM_000255.4(MMUT):c.1315T>G (p.Tyr439Asp)
|
rs1581829908
|
|
NM_000255.4(MMUT):c.1415C>T (p.Ala472Val)
|
rs747589392
|
|
NM_000255.4(MMUT):c.1421G>C (p.Arg474Pro)
|
rs368746965
|
|
NM_000255.4(MMUT):c.1435A>G (p.Ile479Val)
|
rs867154364
|
|
NM_000255.4(MMUT):c.1465G>A (p.Val489Ile)
|
rs1767446166
|
|
NM_000255.4(MMUT):c.1515T>C (p.Ile505=)
|
rs772936850
|
|
NM_000255.4(MMUT):c.1622C>T (p.Ala541Val)
|
|
|
NM_000255.4(MMUT):c.1670G>A (p.Arg557Gln)
|
rs756389945
|
|
NM_000255.4(MMUT):c.1679G>A (p.Cys560Tyr)
|
rs1238333040
|
|
NM_000255.4(MMUT):c.168A>G (p.Pro56=)
|
rs1561959894
|
|
NM_000255.4(MMUT):c.1790T>G (p.Ile597Arg)
|
rs1554158951
|
|
NM_000255.4(MMUT):c.1809G>T (p.Arg603Ser)
|
rs756743196
|
|
NM_000255.4(MMUT):c.1844C>G (p.Pro615Arg)
|
rs1554158777
|
|
NM_000255.4(MMUT):c.1850T>G (p.Leu617Arg)
|
rs1554158775
|
|
NM_000255.4(MMUT):c.188C>T (p.Thr63Ile)
|
rs1767776360
|
|
NM_000255.4(MMUT):c.1956+2T>C
|
rs750619189
|
|
NM_000255.4(MMUT):c.2125-2A>G
|
rs1561948924
|
|
NM_000255.4(MMUT):c.2180G>A (p.Arg727Gln)
|
|
|
NM_000255.4(MMUT):c.2196_2197insCGGCA (p.Val733fs)
|
rs1766985866
|
|
NM_000255.4(MMUT):c.2213A>G (p.Asp738Gly)
|
rs2127412055
|
|
NM_000255.4(MMUT):c.260G>A (p.Gly87Glu)
|
rs1554160986
|
|
NM_000255.4(MMUT):c.404C>T (p.Ser135Leu)
|
|
|
NM_000255.4(MMUT):c.41A>T (p.His14Leu)
|
rs886061561
|
|
NM_000255.4(MMUT):c.421G>A (p.Ala141Thr)
|
rs1554160730
|
|
NM_000255.4(MMUT):c.572C>T (p.Ala191Val)
|
rs760782399
|
|
NM_000255.4(MMUT):c.595T>G (p.Phe199Val)
|
rs2127419986
|
|
NM_000255.4(MMUT):c.669_674dup (p.Glu224_Phe225insLeuGlu)
|
rs1554160637
|
|
NM_000255.4(MMUT):c.733A>G (p.Ile245Val)
|
rs754464973
|
|
NM_000255.4(MMUT):c.846A>G (p.Ala282=)
|
rs1184586094
|
|
NM_000255.4(MMUT):c.876C>G (p.Leu292=)
|
rs1767679459
|
|
NM_000255.4(MMUT):c.915_920del (p.Leu305_Ser306del)
|
rs1561957516
|
|
NM_000255.4(MMUT):c.917C>T (p.Ser306Phe)
|
rs1085307929
|
|
NM_000274.4(OAT):c.*275A>G
|
rs886046808
|
|
NM_000274.4(OAT):c.-30+11G>A
|
rs886046811
|
|
NM_000274.4(OAT):c.-66A>G
|
rs1387021384
|
|
NM_000274.4(OAT):c.1003G>T (p.Ala335Ser)
|
rs751075605
|
|
NM_000274.4(OAT):c.1014+6G>A
|
|
|
NM_000274.4(OAT):c.1014G>A (p.Glu338=)
|
|
|
NM_000274.4(OAT):c.1027G>C (p.Glu343Gln)
|
rs1951391727
|
|
NM_000274.4(OAT):c.1036G>A (p.Ala346Thr)
|
|
|
NM_000274.4(OAT):c.1039G>A (p.Glu347Lys)
|
rs2134450837
|
|
NM_000274.4(OAT):c.1055T>C (p.Leu352Ser)
|
|
|
NM_000274.4(OAT):c.1056G>C (p.Leu352Phe)
|
rs766145396
|
|
NM_000274.4(OAT):c.1073A>G (p.Asn358Ser)
|
|
|
NM_000274.4(OAT):c.1076A>G (p.Glu359Gly)
|
|
|
NM_000274.4(OAT):c.1084A>G (p.Lys362Glu)
|
rs2134450586
|
|
NM_000274.4(OAT):c.109C>G (p.Pro37Ala)
|
|
|
NM_000274.4(OAT):c.110C>T (p.Pro37Leu)
|
rs747742850
|
|
NM_000274.4(OAT):c.1111G>A (p.Val371Ile)
|
|
|
NM_000274.4(OAT):c.1118G>A (p.Gly373Glu)
|
rs386833595
|
|
NM_000274.4(OAT):c.1124G>C (p.Gly375Ala)
|
rs121965045
|
|
NM_000274.4(OAT):c.112C>T (p.Pro38Ser)
|
|
|
NM_000274.4(OAT):c.1159+2_1159+3insAAAGAAACCAAAGGTGTGCTCAATGGTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCGCTACAACCACCTCCCAGCCGCCTGCCTTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA
|
|
|
NM_000274.4(OAT):c.1159G>C (p.Asp387His)
|
|
|
NM_000274.4(OAT):c.1160A>G (p.Asp387Gly)
|
|
|
NM_000274.4(OAT):c.116C>T (p.Thr39Ile)
|
rs754764229
|
|
NM_000274.4(OAT):c.1184T>G (p.Leu395Arg)
|
rs2134440552
|
|
NM_000274.4(OAT):c.1187G>T (p.Arg396Leu)
|
|
|
NM_000274.4(OAT):c.1198A>T (p.Asn400Tyr)
|
rs2134440441
|
|
NM_000274.4(OAT):c.1222C>G (p.His408Asp)
|
|
|
NM_000274.4(OAT):c.1231A>G (p.Ile411Val)
|
|
|
NM_000274.4(OAT):c.123T>C (p.Asp41=)
|
rs376051303
|
|
NM_000274.4(OAT):c.124G>A (p.Asp42Asn)
|
rs2134490858
|
|
NM_000274.4(OAT):c.1261A>G (p.Lys421Glu)
|
rs1434415037
|
|
NM_000274.4(OAT):c.1272G>T (p.Glu424Asp)
|
rs1170702129
|
|
NM_000274.4(OAT):c.1285A>G (p.Ile429Val)
|
|
|
NM_000274.4(OAT):c.1294A>T (p.Ile432Phe)
|
|
|
NM_000274.4(OAT):c.1300A>G (p.Lys434Glu)
|
|
|
NM_000274.4(OAT):c.1301A>C (p.Lys434Thr)
|
rs2134439801
|
|
NM_000274.4(OAT):c.1312T>A (p.Ser438Thr)
|
|
|
NM_000274.4(OAT):c.1320A>G (p.Ter440Trp)
|
rs2134439693
|
|
NM_000274.4(OAT):c.158A>G (p.His53Arg)
|
|
|
NM_000274.4(OAT):c.175C>T (p.Pro59Ser)
|
|
|
NM_000274.4(OAT):c.192_193del (p.Gly65fs)
|
rs386833600
|
|
NM_000274.4(OAT):c.199+4C>T
|
rs373425479
|
|
NM_000274.4(OAT):c.199+5G>A
|
rs1564739598
|
|
NM_000274.4(OAT):c.268C>G (p.Gln90Glu)
|
rs121965060
|
|
NM_000274.4(OAT):c.296A>G (p.Asn99Ser)
|
|
|
NM_000274.4(OAT):c.307A>G (p.Ser103Gly)
|
rs2134478495
|
|
NM_000274.4(OAT):c.34G>T (p.Ala12Ser)
|
|
|
NM_000274.4(OAT):c.391T>C (p.Phe131Leu)
|
rs2134478077
|
|
NM_000274.4(OAT):c.395A>G (p.Asn132Ser)
|
|
|
NM_000274.4(OAT):c.401A>G (p.His134Arg)
|
rs1217397711
|
|
NM_000274.4(OAT):c.413C>T (p.Pro138Leu)
|
rs1951673489
|
|
NM_000274.4(OAT):c.427G>T (p.Val143Leu)
|
rs2134477473
|
|
NM_000274.4(OAT):c.437G>T (p.Gly146Val)
|
rs1951668263
|
|
NM_000274.4(OAT):c.43A>T (p.Ser15Cys)
|
rs1453312313
|
|
NM_000274.4(OAT):c.442A>T (p.Thr148Ser)
|
|
|
NM_000274.4(OAT):c.44G>T (p.Ser15Ile)
|
|
|
NM_000274.4(OAT):c.460C>T (p.Arg154Cys)
|
|
|
NM_000274.4(OAT):c.461G>T (p.Arg154Leu)
|
rs121965039
|
|
NM_000274.4(OAT):c.466T>A (p.Trp156Arg)
|
|
|
NM_000274.4(OAT):c.472_486del (p.Tyr158_Gly162del)
|
rs386833611
|
|
NM_000274.4(OAT):c.478G>C (p.Val160Leu)
|
|
|
NM_000274.4(OAT):c.47G>A (p.Arg16His)
|
|
|
NM_000274.4(OAT):c.494A>C (p.Lys165Thr)
|
rs1951665737
|
|
NM_000274.4(OAT):c.49G>C (p.Gly17Arg)
|
rs760716065
|
|
NM_000274.4(OAT):c.500A>C (p.Lys167Thr)
|
|
|
NM_000274.4(OAT):c.511G>A (p.Val171Ile)
|
rs1951664964
|
|
NM_000274.4(OAT):c.515T>C (p.Phe172Ser)
|
|
|
NM_000274.4(OAT):c.519A>G (p.Ala173=)
|
rs2134476827
|
|
NM_000274.4(OAT):c.520+4T>C
|
|
|
NM_000274.4(OAT):c.521-15_521-12del
|
rs376636397
|
|
NM_000274.4(OAT):c.521-6T>G
|
rs369018496
|
|
NM_000274.4(OAT):c.533G>C (p.Trp178Ser)
|
rs267606923
|
|
NM_000274.4(OAT):c.533G>T (p.Trp178Leu)
|
rs267606923
|
|
NM_000274.4(OAT):c.548C>G (p.Ser183Cys)
|
rs2134465660
|
|
NM_000274.4(OAT):c.565A>G (p.Thr189Ala)
|
|
|
NM_000274.4(OAT):c.578G>A (p.Ser193Asn)
|
|
|
NM_000274.4(OAT):c.583G>A (p.Asp195Asn)
|
rs386833614
|
|
NM_000274.4(OAT):c.583G>T (p.Asp195Tyr)
|
rs386833614
|
|
NM_000274.4(OAT):c.603G>T (p.Met201Ile)
|
|
|
NM_000274.4(OAT):c.604C>A (p.Pro202Thr)
|
rs868567649
|
|
NM_000274.4(OAT):c.604C>T (p.Pro202Ser)
|
|
|
NM_000274.4(OAT):c.605C>T (p.Pro202Leu)
|
|
|
NM_000274.4(OAT):c.613_614delinsAC (p.Asp205Thr)
|
|
|
NM_000274.4(OAT):c.614A>G (p.Asp205Gly)
|
rs375157197
|
|
NM_000274.4(OAT):c.619A>T (p.Ile207Phe)
|
|
|
NM_000274.4(OAT):c.626A>G (p.Tyr209Cys)
|
rs2134465189
|
|
NM_000274.4(OAT):c.640G>T (p.Ala214Ser)
|
rs1464097966
|
|
NM_000274.4(OAT):c.648+13C>A
|
rs779470531
|
|
NM_000274.4(OAT):c.648+6T>G
|
rs1951545873
|
|
NM_000274.4(OAT):c.712G>A (p.Val238Ile)
|
|
|
NM_000274.4(OAT):c.718G>A (p.Val240Ile)
|
rs777488833
|
|
NM_000274.4(OAT):c.773T>A (p.Val258Asp)
|
|
|
NM_000274.4(OAT):c.775C>G (p.Leu259Val)
|
rs1252853867
|
|
NM_000274.4(OAT):c.792A>T (p.Glu264Asp)
|
rs1174503043
|
|
NM_000274.4(OAT):c.796C>A (p.Gln266Lys)
|
rs1951458291
|
|
NM_000274.4(OAT):c.799A>G (p.Thr267Ala)
|
rs2134456603
|
|
NM_000274.4(OAT):c.809C>T (p.Ala270Val)
|
rs2134456541
|
|
NM_000274.4(OAT):c.839A>G (p.Tyr280Cys)
|
|
|
NM_000274.4(OAT):c.844A>C (p.Asn282His)
|
rs144131321
|
|
NM_000274.4(OAT):c.886G>A (p.Gly296Arg)
|
rs1589700741
|
|
NM_000274.4(OAT):c.911T>A (p.Val304Glu)
|
rs886046810
|
|
NM_000274.4(OAT):c.911T>G (p.Val304Gly)
|
|
|
NM_000274.4(OAT):c.922G>A (p.Asp308Asn)
|
|
|
NM_000274.4(OAT):c.934C>A (p.Leu312Met)
|
|
|
NM_000274.4(OAT):c.956A>G (p.His319Arg)
|
|
|
NM_000274.4(OAT):c.965C>T (p.Thr322Ile)
|
rs953827835
|
|
NM_000274.4(OAT):c.966A>G (p.Thr322=)
|
rs1951417723
|
|
NM_000274.4(OAT):c.966A>T (p.Thr322=)
|
rs1951417723
|
|
NM_000274.4(OAT):c.96A>C (p.Lys32Asn)
|
rs978283946
|
|
NM_000274.4(OAT):c.986G>C (p.Gly329Ala)
|
|
|
NM_000274.4(OAT):c.992G>A (p.Arg331Gln)
|
|
|
NM_000274.4(OAT):c.992G>T (p.Arg331Leu)
|
rs201504751
|
|
NM_000276.4(OCRL):c.1031T>C (p.Val344Ala)
|
|
|
NM_000276.4(OCRL):c.109G>C (p.Gly37Arg)
|
rs767054196
|
|
NM_000276.4(OCRL):c.1139T>C (p.Val380Ala)
|
|
|
NM_000276.4(OCRL):c.1220C>G (p.Pro407Arg)
|
|
|
NM_000276.4(OCRL):c.1355A>G (p.Gln452Arg)
|
rs1936210819
|
|
NM_000276.4(OCRL):c.1367A>C (p.Gln456Pro)
|
rs1569460215
|
|
NM_000276.4(OCRL):c.1367A>G (p.Gln456Arg)
|
|
|
NM_000276.4(OCRL):c.1369C>T (p.Arg457Cys)
|
rs137853839
|
|
NM_000276.4(OCRL):c.1370G>C (p.Arg457Pro)
|
rs1602791150
|
|
NM_000276.4(OCRL):c.1393G>C (p.Asp465His)
|
|
|
NM_000276.4(OCRL):c.1454G>C (p.Arg485Pro)
|
rs993587899
|
|
NM_000276.4(OCRL):c.1467-3C>G
|
rs779822028
|
|
NM_000276.4(OCRL):c.1513G>A (p.Gly505Arg)
|
|
|
NM_000276.4(OCRL):c.1514G>A (p.Gly505Glu)
|
rs1569460717
|
|
NM_000276.4(OCRL):c.1522G>A (p.Val508Ile)
|
|
|
NM_000276.4(OCRL):c.153T>A (p.His51Gln)
|
rs1392543051
|
|
NM_000276.4(OCRL):c.1586C>A (p.Ala529Asp)
|
|
|
NM_000276.4(OCRL):c.1595A>G (p.His532Arg)
|
|
|
NM_000276.4(OCRL):c.1602+5A>G
|
|
|
NM_000276.4(OCRL):c.163A>G (p.Ile55Val)
|
|
|
NM_000276.4(OCRL):c.1655G>A (p.Arg552His)
|
rs2124417872
|
|
NM_000276.4(OCRL):c.1666A>G (p.Arg556Gly)
|
|
|
NM_000276.4(OCRL):c.1754A>G (p.Glu585Gly)
|
|
|
NM_000276.4(OCRL):c.179G>A (p.Ser60Asn)
|
|
|
NM_000276.4(OCRL):c.181C>T (p.His61Tyr)
|
rs2124388046
|
|
NM_000276.4(OCRL):c.1882G>A (p.Glu628Lys)
|
|
|
NM_000276.4(OCRL):c.1898C>T (p.Ser633Phe)
|
|
|
NM_000276.4(OCRL):c.1972G>A (p.Val658Ile)
|
|
|
NM_000276.4(OCRL):c.1988G>T (p.Arg663Leu)
|
rs745885693
|
|
NM_000276.4(OCRL):c.200-3del
|
|
|
NM_000276.4(OCRL):c.2086G>A (p.Glu696Lys)
|
rs2124419096
|
|
NM_000276.4(OCRL):c.2214C>G (p.Ile738Met)
|
|
|
NM_000276.4(OCRL):c.2256+6T>C
|
|
|
NM_000276.4(OCRL):c.2292G>T (p.Glu764Asp)
|
|
|
NM_000276.4(OCRL):c.2341C>G (p.Pro781Ala)
|
|
|
NM_000276.4(OCRL):c.2342-10G>A
|
|
|
NM_000276.4(OCRL):c.2376C>G (p.Leu792=)
|
|
|
NM_000276.4(OCRL):c.238+3G>A
|
|
|
NM_000276.4(OCRL):c.238+6T>C
|
|
|
NM_000276.4(OCRL):c.2418_2419delinsTA (p.Glu806_Leu807delinsAspMet)
|
rs2124429709
|
|
NM_000276.4(OCRL):c.2429G>A (p.Arg810Gln)
|
|
|
NM_000276.4(OCRL):c.2449G>T (p.Asp817Tyr)
|
|
|
NM_000276.4(OCRL):c.2456G>C (p.Arg819Pro)
|
|
|
NM_000276.4(OCRL):c.2469+4G>T
|
|
|
NM_000276.4(OCRL):c.2470-4A>G
|
|
|
NM_000276.4(OCRL):c.2581G>T (p.Ala861Ser)
|
|
|
NM_000276.4(OCRL):c.2582-3T>A
|
rs2124430712
|
|
NM_000276.4(OCRL):c.2587C>G (p.Leu863Val)
|
rs2124430719
|
|
NM_000276.4(OCRL):c.2593A>G (p.Thr865Ala)
|
|
|
NM_000276.4(OCRL):c.2620A>G (p.Asn874Asp)
|
|
|
NM_000276.4(OCRL):c.2621A>G (p.Asn874Ser)
|
|
|
NM_000276.4(OCRL):c.2635C>T (p.Gln879Ter)
|
rs1556359544
|
|
NM_000276.4(OCRL):c.2657G>A (p.Arg886His)
|
|
|
NM_000276.4(OCRL):c.29A>T (p.Gln10Leu)
|
|
|
NM_000276.4(OCRL):c.332T>C (p.Val111Ala)
|
rs2124401168
|
|
NM_000276.4(OCRL):c.344A>G (p.Gln115Arg)
|
|
|
NM_000276.4(OCRL):c.350-6C>G
|
|
|
NM_000276.4(OCRL):c.350-7T>A
|
|
|
NM_000276.4(OCRL):c.370C>G (p.Pro124Ala)
|
rs2124401648
|
|
NM_000276.4(OCRL):c.430G>T (p.Val144Phe)
|
rs1283513096
|
|
NM_000276.4(OCRL):c.437C>T (p.Ser146Leu)
|
|
|
NM_000276.4(OCRL):c.43G>C (p.Val15Leu)
|
rs2071724829
|
|
NM_000276.4(OCRL):c.440G>C (p.Gly147Ala)
|
rs2124402286
|
|
NM_000276.4(OCRL):c.461A>G (p.Asn154Ser)
|
|
|
NM_000276.4(OCRL):c.520C>T (p.His174Tyr)
|
|
|
NM_000276.4(OCRL):c.548C>T (p.Ser183Leu)
|
|
|
NM_000276.4(OCRL):c.561-8T>G
|
|
|
NM_000276.4(OCRL):c.561G>A (p.Met187Ile)
|
rs916507337
|
|
NM_000276.4(OCRL):c.569G>A (p.Arg190His)
|
rs776946722
|
|
NM_000276.4(OCRL):c.569G>C (p.Arg190Pro)
|
|
|
NM_000276.4(OCRL):c.571G>C (p.Glu191Gln)
|
|
|
NM_000276.4(OCRL):c.574A>G (p.Lys192Glu)
|
|
|
NM_000276.4(OCRL):c.587A>C (p.Asn196Thr)
|
|
|
NM_000276.4(OCRL):c.601A>G (p.Lys201Glu)
|
|
|
NM_000276.4(OCRL):c.625C>T (p.Leu209Phe)
|
|
|
NM_000276.4(OCRL):c.662G>T (p.Gly221Val)
|
|
|
NM_000276.4(OCRL):c.722G>A (p.Arg241Lys)
|
|
|
NM_000276.4(OCRL):c.746T>G (p.Val249Gly)
|
rs1602783417
|
|
NM_000276.4(OCRL):c.74G>C (p.Arg25Pro)
|
|
|
NM_000276.4(OCRL):c.775G>C (p.Glu259Gln)
|
|
|
NM_000276.4(OCRL):c.799A>G (p.Asn267Asp)
|
|
|
NM_000276.4(OCRL):c.809A>G (p.Asp270Gly)
|
rs1936133194
|
|
NM_000276.4(OCRL):c.932A>G (p.Tyr311Cys)
|
|
|
NM_000276.4(OCRL):c.934A>G (p.Lys312Glu)
|
rs1936141520
|
|
NM_000276.4(OCRL):c.946C>G (p.Leu316Val)
|
|
|
NM_000276.4(OCRL):c.970CTT[1] (p.Leu325del)
|
rs727504056
|
|
NM_000276.4(OCRL):c.982G>A (p.Ala328Thr)
|
|
|
NM_000276.4(OCRL):c.986G>A (p.Arg329Lys)
|
|
|
NM_000276.4(OCRL):c.998G>T (p.Cys333Phe)
|
rs2124405824
|
|
NM_000277.2(PAH):c.-232C>G
|
rs886048893
|
|
NM_000277.2(PAH):c.206_211dup (p.Ser70_Arg71insProSer)
|
rs281865431
|
|
NM_000277.3(PAH):c.*772_*775del
|
rs551502562
|
|
NM_000277.3(PAH):c.-73C>G
|
rs886048891
|
|
NM_000277.3(PAH):c.1001G>C (p.Cys334Ser)
|
rs62517174
|
|
NM_000277.3(PAH):c.1003A>G (p.Lys335Glu)
|
rs886042068
|
|
NM_000277.3(PAH):c.1004A>C (p.Lys335Thr)
|
rs281865434
|
|
NM_000277.3(PAH):c.1007A>G (p.Gln336Arg)
|
rs62508735
|
|
NM_000277.3(PAH):c.1010G>T (p.Gly337Val)
|
rs62517206
|
|
NM_000277.3(PAH):c.1019T>C (p.Ile340Thr)
|
rs62508720
|
|
NM_000277.3(PAH):c.1022A>C (p.Lys341Thr)
|
rs62516153
|
|
NM_000277.3(PAH):c.1022A>G (p.Lys341Arg)
|
rs62516153
|
|
NM_000277.3(PAH):c.1030G>C (p.Gly344Arg)
|
rs62508679
|
|
NM_000277.3(PAH):c.1031G>T (p.Gly344Val)
|
rs62508582
|
|
NM_000277.3(PAH):c.1033G>A (p.Ala345Thr)
|
rs62516062
|
|
NM_000277.3(PAH):c.1039C>T (p.Leu347Phe)
|
rs62516154
|
|
NM_000277.3(PAH):c.105A>G (p.Ile35Met)
|
rs768048739
|
|
NM_000277.3(PAH):c.1065+3A>C
|
rs62508689
|
|
NM_000277.3(PAH):c.1065+7C>A
|
rs62508639
|
|
NM_000277.3(PAH):c.1065+9T>G
|
rs1874730997
|
|
NM_000277.3(PAH):c.1066-12del
|
rs1874706297
|
|
NM_000277.3(PAH):c.1066-13T>G
|
rs1435691439
|
|
NM_000277.3(PAH):c.1066-3C>G
|
|
|
NM_000277.3(PAH):c.1066-7C>T
|
rs1242756437
|
|
NM_000277.3(PAH):c.1066T>G (p.Tyr356Asp)
|
rs62507320
|
|
NM_000277.3(PAH):c.1069T>C (p.Cys357Arg)
|
rs62508595
|
|
NM_000277.3(PAH):c.1074A>T (p.Leu358Phe)
|
rs376480977
|
|
NM_000277.3(PAH):c.1089G>C (p.Lys363Asn)
|
rs63329263
|
|
NM_000277.3(PAH):c.1089G>T (p.Lys363Asn)
|
rs63329263
|
|
NM_000277.3(PAH):c.1096C>G (p.Pro366Ala)
|
|
|
NM_000277.3(PAH):c.1099C>G (p.Leu367Val)
|
rs1565842281
|
|
NM_000277.3(PAH):c.1100T>C (p.Leu367Pro)
|
rs62508574
|
|
NM_000277.3(PAH):c.1100T>G (p.Leu367Arg)
|
rs62508574
|
|
NM_000277.3(PAH):c.1103A>G (p.Glu368Gly)
|
rs2136635784
|
|
NM_000277.3(PAH):c.1112A>G (p.Lys371Arg)
|
rs62507268
|
|
NM_000277.3(PAH):c.1120A>G (p.Ile374Val)
|
rs769076484
|
|
NM_000277.3(PAH):c.1127A>G (p.Asn376Ser)
|
|
|
NM_000277.3(PAH):c.1132A>T (p.Thr378Ser)
|
rs62642911
|
|
NM_000277.3(PAH):c.1144T>C (p.Phe382Leu)
|
rs1555203681
|
|
NM_000277.3(PAH):c.1150C>T (p.Pro384Ser)
|
rs1555203677
|
|
NM_000277.3(PAH):c.1166C>A (p.Ala389Glu)
|
rs1874688379
|
|
NM_000277.3(PAH):c.1166C>G (p.Ala389Gly)
|
rs1874688379
|
|
NM_000277.3(PAH):c.1171A>G (p.Ser391Gly)
|
rs281865453
|
|
NM_000277.3(PAH):c.1175T>C (p.Phe392Ser)
|
rs199475695
|
|
NM_000277.3(PAH):c.1194A>C (p.Lys398Asn)
|
rs199475638
|
|
NM_000277.3(PAH):c.1198A>C (p.Arg400=)
|
rs199475593
|
|
NM_000277.3(PAH):c.1199+50G>A
|
rs369574052
|
|
NM_000277.3(PAH):c.1204T>A (p.Phe402Ile)
|
rs62508725
|
|
NM_000277.3(PAH):c.1204T>C (p.Phe402Leu)
|
rs62508725
|
|
NM_000277.3(PAH):c.1204T>G (p.Phe402Val)
|
rs62508725
|
|
NM_000277.3(PAH):c.1205T>G (p.Phe402Cys)
|
rs1399587250
|
|
NM_000277.3(PAH):c.1210G>T (p.Ala404Ser)
|
|
|
NM_000277.3(PAH):c.1229T>C (p.Phe410Ser)
|
rs62644475
|
|
NM_000277.3(PAH):c.122T>C (p.Leu41Pro)
|
rs62642916
|
|
NM_000277.3(PAH):c.1235T>G (p.Val412Gly)
|
rs1874542925
|
|
NM_000277.3(PAH):c.1237C>G (p.Arg413Gly)
|
rs62644467
|
|
NM_000277.3(PAH):c.1240T>C (p.Tyr414His)
|
rs281865437
|
|
NM_000277.3(PAH):c.1246C>A (p.Pro416Thr)
|
rs1874541064
|
|
NM_000277.3(PAH):c.1247C>A (p.Pro416Gln)
|
rs1445893088
|
|
NM_000277.3(PAH):c.124_126del (p.Lys42del)
|
rs1555209578
|
|
NM_000277.3(PAH):c.125AAG[2] (p.Glu44del)
|
rs199475628
|
|
NM_000277.3(PAH):c.1262T>G (p.Ile421Ser)
|
rs199475696
|
|
NM_000277.3(PAH):c.1264G>A (p.Glu422Lys)
|
rs199475621
|
|
NM_000277.3(PAH):c.1271T>C (p.Leu424Ser)
|
rs199475670
|
|
NM_000277.3(PAH):c.1282C>G (p.Gln428Glu)
|
|
|
NM_000277.3(PAH):c.1285C>A (p.Gln429Lys)
|
rs764974157
|
|
NM_000277.3(PAH):c.1312A>G (p.Asn438Asp)
|
rs1874535103
|
|
NM_000277.3(PAH):c.1315+5G>C
|
rs1874533541
|
|
NM_000277.3(PAH):c.1334G>T (p.Cys445Phe)
|
rs1874484048
|
|
NM_000277.3(PAH):c.133G>T (p.Val45Phe)
|
rs1878255139
|
|
NM_000277.3(PAH):c.1342C>T (p.Leu448Phe)
|
|
|
NM_000277.3(PAH):c.134T>C (p.Val45Ala)
|
rs1592988883
|
|
NM_000277.3(PAH):c.146C>T (p.Ala49Val)
|
rs1878253465
|
|
NM_000277.3(PAH):c.148A>G (p.Lys50Glu)
|
|
|
NM_000277.3(PAH):c.168+5G>T
|
rs62507288
|
|
NM_000277.3(PAH):c.168+6T>G
|
rs62516144
|
|
NM_000277.3(PAH):c.168G>A (p.Glu56=)
|
rs199475567
|
|
NM_000277.3(PAH):c.169-7C>G
|
rs2136702235
|
|
NM_000277.3(PAH):c.175G>T (p.Asp59Tyr)
|
rs199475635
|
|
NM_000277.3(PAH):c.176A>G (p.Asp59Gly)
|
rs199475672
|
|
NM_000277.3(PAH):c.184C>G (p.Leu62Val)
|
rs1565866640
|
|
NM_000277.3(PAH):c.187A>C (p.Thr63Pro)
|
rs199475568
|
|
NM_000277.3(PAH):c.190C>A (p.His64Asn)
|
rs199475569
|
|
NM_000277.3(PAH):c.200C>G (p.Ser67Cys)
|
rs2136702072
|
|
NM_000277.3(PAH):c.206C>T (p.Pro69Leu)
|
|
|
NM_000277.3(PAH):c.214T>G (p.Leu72Val)
|
|
|
NM_000277.3(PAH):c.215_223del (p.Leu72_Asp75delinsTyr)
|
rs2136701938
|
|
NM_000277.3(PAH):c.229T>C (p.Tyr77His)
|
|
|
NM_000277.3(PAH):c.22A>G (p.Asn8Asp)
|
|
|
NM_000277.3(PAH):c.232G>C (p.Glu78Gln)
|
rs62507326
|
|
NM_000277.3(PAH):c.233A>T (p.Glu78Val)
|
rs1877431301
|
|
NM_000277.3(PAH):c.234A>T (p.Glu78Asp)
|
rs2136701879
|
|
NM_000277.3(PAH):c.23A>C (p.Asn8Thr)
|
rs1878414153
|
|
NM_000277.3(PAH):c.250G>A (p.Asp84Asn)
|
|
|
NM_000277.3(PAH):c.257G>A (p.Arg86His)
|
|
|
NM_000277.3(PAH):c.284_285delinsCA (p.Ile95Thr)
|
rs281865432
|
|
NM_000277.3(PAH):c.285C>T (p.Ile95=)
|
rs1877427309
|
|
NM_000277.3(PAH):c.293T>C (p.Leu98Ser)
|
rs62517167
|
|
NM_000277.3(PAH):c.295A>G (p.Arg99Gly)
|
rs2136701651
|
|
NM_000277.3(PAH):c.301G>A (p.Asp101Asn)
|
rs1555207979
|
|
NM_000277.3(PAH):c.307G>A (p.Gly103Ser)
|
rs752792040
|
|
NM_000277.3(PAH):c.339GAA[1] (p.Lys115del)
|
rs1555207969
|
|
NM_000277.3(PAH):c.353-2059_353-1160del
|
rs2136680756
|
|
NM_000277.3(PAH):c.353-7_353-5dup
|
rs1452763334
|
|
NM_000277.3(PAH):c.355C>T (p.Pro119Ser)
|
rs398123292
|
|
NM_000277.3(PAH):c.361T>G (p.Phe121Val)
|
rs1876627337
|
|
NM_000277.3(PAH):c.362T>C (p.Phe121Ser)
|
rs1565859485
|
|
NM_000277.3(PAH):c.368G>T (p.Arg123Ile)
|
rs199475681
|
|
NM_000277.3(PAH):c.371C>A (p.Thr124Asn)
|
|
|
NM_000277.3(PAH):c.379G>A (p.Glu127Lys)
|
rs1555206565
|
|
NM_000277.3(PAH):c.380A>G (p.Glu127Gly)
|
rs1876625601
|
|
NM_000277.3(PAH):c.384G>A (p.Leu128=)
|
|
|
NM_000277.3(PAH):c.386A>T (p.Asp129Val)
|
rs199475623
|
|
NM_000277.3(PAH):c.392T>C (p.Phe131Ser)
|
rs1876624286
|
|
NM_000277.3(PAH):c.411C>T (p.Ser137=)
|
rs1801146
|
|
NM_000277.3(PAH):c.419C>T (p.Ala140Val)
|
|
|
NM_000277.3(PAH):c.441+5G>A
|
rs62507321
|
|
NM_000277.3(PAH):c.441+6T>C
|
rs199475698
|
|
NM_000277.3(PAH):c.442G>C (p.Gly148Arg)
|
rs80297647
|
|
NM_000277.3(PAH):c.443G>T (p.Gly148Val)
|
rs1555205655
|
|
NM_000277.3(PAH):c.44T>A (p.Leu15His)
|
rs1319374413
|
|
NM_000277.3(PAH):c.44T>G (p.Leu15Arg)
|
|
|
NM_000277.3(PAH):c.456T>C (p.Pro152=)
|
rs377244118
|
|
NM_000277.3(PAH):c.458T>C (p.Val153Ala)
|
|
|
NM_000277.3(PAH):c.460T>A (p.Tyr154Asn)
|
rs199475587
|
|
NM_000277.3(PAH):c.46T>C (p.Ser16Pro)
|
rs62642946
|
|
NM_000277.3(PAH):c.470G>C (p.Arg157Thr)
|
rs199475611
|
|
NM_000277.3(PAH):c.473G>C (p.Arg158Pro)
|
rs5030843
|
|
NM_000277.3(PAH):c.47C>A (p.Ser16Tyr)
|
rs1592991188
|
|
NM_000277.3(PAH):c.493G>C (p.Ala165Pro)
|
rs199475626
|
|
NM_000277.3(PAH):c.500A>G (p.Asn167Ser)
|
rs77554925
|
|
NM_000277.3(PAH):c.505C>G (p.Arg169Gly)
|
rs281865440
|
|
NM_000277.3(PAH):c.506G>C (p.Arg169Pro)
|
rs199475679
|
|
NM_000277.3(PAH):c.510-5T>A
|
rs1875378128
|
|
NM_000277.3(PAH):c.510-6T>G
|
rs62507281
|
|
NM_000277.3(PAH):c.523C>G (p.Pro175Ala)
|
rs199475604
|
|
NM_000277.3(PAH):c.523C>T (p.Pro175Ser)
|
rs199475604
|
|
NM_000277.3(PAH):c.538A>G (p.Met180Val)
|
rs1875373366
|
|
NM_000277.3(PAH):c.54T>C (p.Phe18=)
|
rs1878411076
|
|
NM_000277.3(PAH):c.552_554del (p.Lys185del)
|
|
|
NM_000277.3(PAH):c.553A>G (p.Lys185Glu)
|
|
|
NM_000277.3(PAH):c.561G>C (p.Trp187Cys)
|
rs62507336
|
|
NM_000277.3(PAH):c.568G>A (p.Val190Met)
|
rs281865441
|
|
NM_000277.3(PAH):c.574A>G (p.Lys192Glu)
|
|
|
NM_000277.3(PAH):c.586T>A (p.Ser196Thr)
|
|
|
NM_000277.3(PAH):c.587C>A (p.Ser196Tyr)
|
rs865899394
|
|
NM_000277.3(PAH):c.599C>A (p.Thr200Asn)
|
rs2136649547
|
|
NM_000277.3(PAH):c.59A>C (p.Gln20Pro)
|
rs199475662
|
|
NM_000277.3(PAH):c.60+5_60+6del
|
rs1592991131
|
|
NM_000277.3(PAH):c.60G>C (p.Gln20His)
|
rs199475688
|
|
NM_000277.3(PAH):c.61-3T>C
|
rs1878260066
|
|
NM_000277.3(PAH):c.617A>G (p.Tyr206Cys)
|
rs62508728
|
|
NM_000277.3(PAH):c.620A>G (p.Asn207Ser)
|
rs62508721
|
|
NM_000277.3(PAH):c.626T>C (p.Ile209Thr)
|
|
|
NM_000277.3(PAH):c.637C>T (p.Leu213Phe)
|
rs1131691945
|
|
NM_000277.3(PAH):c.649T>C (p.Cys217Arg)
|
rs62508718
|
|
NM_000277.3(PAH):c.650G>A (p.Cys217Tyr)
|
rs62508617
|
|
NM_000277.3(PAH):c.656T>A (p.Phe219Tyr)
|
|
|
NM_000277.3(PAH):c.656T>C (p.Phe219Ser)
|
rs1164279708
|
|
NM_000277.3(PAH):c.661G>A (p.Glu221Lys)
|
rs2136649314
|
|
NM_000277.3(PAH):c.667A>T (p.Asn223Tyr)
|
rs2136649290
|
|
NM_000277.3(PAH):c.668A>T (p.Asn223Ile)
|
rs201245932
|
|
NM_000277.3(PAH):c.682G>A (p.Glu228Lys)
|
rs281865444
|
|
NM_000277.3(PAH):c.684A>C (p.Glu228Asp)
|
rs2136649225
|
|
NM_000277.3(PAH):c.689T>G (p.Val230Gly)
|
rs199475673
|
|
NM_000277.3(PAH):c.703C>A (p.Gln235Lys)
|
rs1237792711
|
|
NM_000277.3(PAH):c.704A>C (p.Gln235Pro)
|
rs199475656
|
|
NM_000277.3(PAH):c.706+5G>A
|
rs1331362460
|
|
NM_000277.3(PAH):c.718T>G (p.Phe240Val)
|
rs62507337
|
|
NM_000277.3(PAH):c.720C>T (p.Phe240=)
|
|
|
NM_000277.3(PAH):c.737C>A (p.Ala246Asp)
|
rs199475610
|
|
NM_000277.3(PAH):c.740G>A (p.Gly247Asp)
|
rs199475579
|
|
NM_000277.3(PAH):c.743T>C (p.Leu248Pro)
|
rs62507340
|
|
NM_000277.3(PAH):c.743T>G (p.Leu248Arg)
|
rs62507340
|
|
NM_000277.3(PAH):c.752C>T (p.Ser251Phe)
|
|
|
NM_000277.3(PAH):c.757G>A (p.Asp253Asn)
|
rs765533320
|
|
NM_000277.3(PAH):c.776C>G (p.Ala259Gly)
|
|
|
NM_000277.3(PAH):c.781C>G (p.Arg261Gly)
|
rs5030850
|
|
NM_000277.3(PAH):c.782G>T (p.Arg261Leu)
|
rs5030849
|
|
NM_000277.3(PAH):c.791A>G (p.His264Arg)
|
rs199475580
|
|
NM_000277.3(PAH):c.791A>T (p.His264Leu)
|
rs199475580
|
|
NM_000277.3(PAH):c.793T>G (p.Cys265Gly)
|
rs62517181
|
|
NM_000277.3(PAH):c.796A>G (p.Thr266Ala)
|
rs62508752
|
|
NM_000277.3(PAH):c.800A>G (p.Gln267Arg)
|
rs778154939
|
|
NM_000277.3(PAH):c.800A>T (p.Gln267Leu)
|
rs778154939
|
|
NM_000277.3(PAH):c.802T>C (p.Tyr268His)
|
rs62507263
|
|
NM_000277.3(PAH):c.812A>T (p.His271Leu)
|
rs199475692
|
|
NM_000277.3(PAH):c.817T>C (p.Ser273Pro)
|
rs1565846754
|
|
NM_000277.3(PAH):c.828G>T (p.Met276Ile)
|
rs62514954
|
|
NM_000277.3(PAH):c.842+4A>T
|
rs1555204434
|
|
NM_000277.3(PAH):c.842+6T>A
|
rs1592952773
|
|
NM_000277.3(PAH):c.843-13_843-10del
|
rs2136645010
|
|
NM_000277.3(PAH):c.843-6T>C
|
rs2136645004
|
|
NM_000277.3(PAH):c.843-8T>C
|
rs2136645006
|
|
NM_000277.3(PAH):c.843T>A (p.Pro281=)
|
|
|
NM_000277.3(PAH):c.853C>T (p.His285Tyr)
|
rs199475636
|
|
NM_000277.3(PAH):c.864G>C (p.Leu288Phe)
|
rs62507327
|
|
NM_000277.3(PAH):c.869A>G (p.His290Arg)
|
rs62642919
|
|
NM_000277.3(PAH):c.869A>T (p.His290Leu)
|
rs62642919
|
|
NM_000277.3(PAH):c.870T>G (p.His290Gln)
|
rs751203209
|
|
NM_000277.3(PAH):c.871G>T (p.Val291Leu)
|
rs1875160008
|
|
NM_000277.3(PAH):c.880T>A (p.Phe294Ile)
|
rs1565846198
|
|
NM_000277.3(PAH):c.886G>C (p.Asp296His)
|
rs765934604
|
|
NM_000277.3(PAH):c.887A>G (p.Asp296Gly)
|
rs281865446
|
|
NM_000277.3(PAH):c.895T>C (p.Phe299Leu)
|
rs796064504
|
|
NM_000277.3(PAH):c.895_897del (p.Phe299del)
|
rs62507267
|
|
NM_000277.3(PAH):c.896T>C (p.Phe299Ser)
|
rs62642933
|
|
NM_000277.3(PAH):c.897T>C (p.Phe299=)
|
rs886048890
|
|
NM_000277.3(PAH):c.899C>T (p.Ala300Val)
|
rs199475609
|
|
NM_000277.3(PAH):c.912+16T>A
|
rs1875152576
|
|
NM_000277.3(PAH):c.912+3A>C
|
rs281865450
|
|
NM_000277.3(PAH):c.912G>A (p.Gln304=)
|
rs199475583
|
|
NM_000277.3(PAH):c.913-3C>G
|
rs281865451
|
|
NM_000277.3(PAH):c.913-5T>C
|
|
|
NM_000277.3(PAH):c.913-8A>G
|
rs281865452
|
|
NM_000277.3(PAH):c.934G>C (p.Gly312Arg)
|
rs763115697
|
|
NM_000277.3(PAH):c.945T>A (p.Asp315Glu)
|
rs1180470263
|
|
NM_000277.3(PAH):c.947A>T (p.Glu316Val)
|
rs1874873096
|
|
NM_000277.3(PAH):c.949T>C (p.Tyr317His)
|
rs1874872863
|
|
NM_000277.3(PAH):c.950A>G (p.Tyr317Cys)
|
rs2136639547
|
|
NM_000277.3(PAH):c.952A>G (p.Ile318Val)
|
|
|
NM_000277.3(PAH):c.968C>T (p.Thr323Ile)
|
rs1874870478
|
|
NM_000277.3(PAH):c.969+4A>T
|
rs2136639453
|
|
NM_000277.3(PAH):c.969+6T>C
|
rs62517196
|
|
NM_000277.3(PAH):c.969A>G (p.Thr323=)
|
rs199475637
|
|
NM_000277.3(PAH):c.970-6T>G
|
rs62507274
|
|
NM_000277.3(PAH):c.970-7A>G
|
rs745670264
|
|
NM_000277.3(PAH):c.977G>C (p.Trp326Ser)
|
rs62514959
|
|
NM_000277.3(PAH):c.981T>G (p.Phe327Leu)
|
rs199475642
|
|
NM_000277.3(PAH):c.983C>A (p.Thr328Asn)
|
rs886042096
|
|
NM_000277.3(PAH):c.983C>T (p.Thr328Ile)
|
rs886042096
|
|
NM_000277.3(PAH):c.98G>T (p.Gly33Val)
|
|
|
NM_000281.4(PCBD1):c.-15G>C
|
rs886047114
|
|
NM_000281.4(PCBD1):c.135+16G>A
|
|
|
NM_000281.4(PCBD1):c.236C>T (p.Thr79Ile)
|
rs121913014
|
|
NM_000281.4(PCBD1):c.281G>T (p.Ser94Ile)
|
rs1846540236
|
|
NM_000281.4(PCBD1):c.286A>G (p.Ile96Val)
|
|
|
NM_000281.4(PCBD1):c.308T>A (p.Met103Lys)
|
|
|
NM_000281.4(PCBD1):c.313T>C (p.Ter105Gln)
|
rs770334825
|
|
NM_000281.4(PCBD1):c.37A>T (p.Arg13Trp)
|
|
|
NM_000281.4(PCBD1):c.45G>C (p.Gln15His)
|
|
|
NM_000281.4(PCBD1):c.5C>T (p.Ala2Val)
|
rs1846575724
|
|
NM_000282.4(PCCA):c.-4A>C
|
rs2046021682
|
|
NM_000282.4(PCCA):c.-5C>T
|
rs886049926
|
|
NM_000282.4(PCCA):c.1007A>G (p.Glu336Gly)
|
rs2063428007
|
|
NM_000282.4(PCCA):c.1016T>A (p.Val339Glu)
|
|
|
NM_000282.4(PCCA):c.1026GAA[1] (p.Lys343del)
|
|
|
NM_000282.4(PCCA):c.1030A>G (p.Asn344Asp)
|
|
|
NM_000282.4(PCCA):c.1031A>G (p.Asn344Ser)
|
rs2063430702
|
|
NM_000282.4(PCCA):c.1031A>T (p.Asn344Ile)
|
|
|
NM_000282.4(PCCA):c.1033T>G (p.Phe345Val)
|
rs1014756935
|
|
NM_000282.4(PCCA):c.1037A>G (p.Tyr346Cys)
|
rs542465356
|
|
NM_000282.4(PCCA):c.1040T>C (p.Phe347Ser)
|
rs2152589132
|
|
NM_000282.4(PCCA):c.1047A>T (p.Glu349Asp)
|
rs2063431723
|
|
NM_000282.4(PCCA):c.1055C>T (p.Thr352Ile)
|
rs2063432405
|
|
NM_000282.4(PCCA):c.1071G>T (p.Glu357Asp)
|
rs761295534
|
|
NM_000282.4(PCCA):c.1075C>G (p.Pro359Ala)
|
|
|
NM_000282.4(PCCA):c.1102G>C (p.Asp368His)
|
rs1555411121
|
|
NM_000282.4(PCCA):c.1105C>G (p.Leu369Val)
|
|
|
NM_000282.4(PCCA):c.1114G>A (p.Glu372Lys)
|
rs1566896430
|
|
NM_000282.4(PCCA):c.1127T>C (p.Val376Ala)
|
|
|
NM_000282.4(PCCA):c.1138T>C (p.Tyr380His)
|
rs1303977643
|
|
NM_000282.4(PCCA):c.1141C>T (p.Pro381Ser)
|
rs2152683965
|
|
NM_000282.4(PCCA):c.1145T>G (p.Leu382Arg)
|
|
|
NM_000282.4(PCCA):c.1152C>A (p.His384Gln)
|
|
|
NM_000282.4(PCCA):c.1160C>G (p.Ala387Gly)
|
rs1484267212
|
|
NM_000282.4(PCCA):c.1162G>A (p.Asp388Asn)
|
|
|
NM_000282.4(PCCA):c.1162G>T (p.Asp388Tyr)
|
rs2152684002
|
|
NM_000282.4(PCCA):c.1168C>T (p.Arg390Cys)
|
|
|
NM_000282.4(PCCA):c.1169G>A (p.Arg390His)
|
|
|
NM_000282.4(PCCA):c.1171A>G (p.Ile391Val)
|
|
|
NM_000282.4(PCCA):c.1175A>G (p.Asn392Ser)
|
rs202015762
|
|
NM_000282.4(PCCA):c.1177G>A (p.Gly393Ser)
|
|
|
NM_000282.4(PCCA):c.1178G>A (p.Gly393Asp)
|
|
|
NM_000282.4(PCCA):c.1178G>C (p.Gly393Ala)
|
|
|
NM_000282.4(PCCA):c.1184C>G (p.Ala395Gly)
|
|
|
NM_000282.4(PCCA):c.1184C>T (p.Ala395Val)
|
rs1354175358
|
|
NM_000282.4(PCCA):c.1209+6dup
|
rs746645726
|
|
NM_000282.4(PCCA):c.1209G>A (p.Glu403=)
|
rs775767058
|
|
NM_000282.4(PCCA):c.120T>C (p.Tyr40=)
|
rs2047399572
|
|
NM_000282.4(PCCA):c.1213C>G (p.Pro405Ala)
|
rs772750102
|
|
NM_000282.4(PCCA):c.1214C>A (p.Pro405His)
|
rs200874114
|
|
NM_000282.4(PCCA):c.1219A>G (p.Lys407Glu)
|
rs1190274343
|
|
NM_000282.4(PCCA):c.1220A>G (p.Lys407Arg)
|
|
|
NM_000282.4(PCCA):c.1240A>G (p.Ile414Val)
|
|
|
NM_000282.4(PCCA):c.1258T>C (p.Tyr420His)
|
|
|
NM_000282.4(PCCA):c.1265A>G (p.Glu422Gly)
|
|
|
NM_000282.4(PCCA):c.1271T>C (p.Leu424Ser)
|
|
|
NM_000282.4(PCCA):c.1285-1417T>C
|
rs1232004179
|
|
NM_000282.4(PCCA):c.1288C>G (p.Arg430Gly)
|
rs776821944
|
|
NM_000282.4(PCCA):c.128A>G (p.Gln43Arg)
|
|
|
NM_000282.4(PCCA):c.12C>G (p.Phe4Leu)
|
rs759257021
|
|
NM_000282.4(PCCA):c.1318G>A (p.Asp440Asn)
|
|
|
NM_000282.4(PCCA):c.1323T>G (p.Ile441Met)
|
|
|
NM_000282.4(PCCA):c.1339C>T (p.Pro447Ser)
|
|
|
NM_000282.4(PCCA):c.1353+5_1353+9del
|
rs764045674
|
|
NM_000282.4(PCCA):c.1366G>A (p.Gly456Ser)
|
rs1566911665
|
|
NM_000282.4(PCCA):c.1367G>A (p.Gly456Asp)
|
|
|
NM_000282.4(PCCA):c.136A>G (p.Met46Val)
|
rs774158004
|
|
NM_000282.4(PCCA):c.1381G>A (p.Glu461Lys)
|
|
|
NM_000282.4(PCCA):c.1383G>A (p.Glu461=)
|
rs2066768313
|
|
NM_000282.4(PCCA):c.1397T>C (p.Met466Thr)
|
rs370549437
|
|
NM_000282.4(PCCA):c.1399G>A (p.Ala467Thr)
|
|
|
NM_000282.4(PCCA):c.1404T>G (p.Asp468Glu)
|
rs769970677
|
|
NM_000282.4(PCCA):c.1418A>G (p.Tyr473Cys)
|
rs2066770739
|
|
NM_000282.4(PCCA):c.1423A>T (p.Ile475Phe)
|
rs35719359
|
|
NM_000282.4(PCCA):c.1427G>A (p.Arg476Gln)
|
|
|
NM_000282.4(PCCA):c.1428A>G (p.Arg476=)
|
|
|
NM_000282.4(PCCA):c.1429G>A (p.Gly477Ser)
|
|
|
NM_000282.4(PCCA):c.1438C>A (p.His480Asn)
|
|
|
NM_000282.4(PCCA):c.1453C>T (p.Leu485Phe)
|
rs1302157004
|
|
NM_000282.4(PCCA):c.1461G>C (p.Glu487Asp)
|
rs767997785
|
|
NM_000282.4(PCCA):c.1469T>C (p.Ile490Thr)
|
|
|
NM_000282.4(PCCA):c.1478G>A (p.Arg493His)
|
|
|
NM_000282.4(PCCA):c.1496T>C (p.Ile499Thr)
|
|
|
NM_000282.4(PCCA):c.1516G>T (p.Asp506Tyr)
|
|
|
NM_000282.4(PCCA):c.1519G>T (p.Val507Leu)
|
rs146061036
|
|
NM_000282.4(PCCA):c.1522T>C (p.Tyr508His)
|
|
|
NM_000282.4(PCCA):c.1534T>G (p.Phe512Val)
|
rs779659813
|
|
NM_000282.4(PCCA):c.1566G>T (p.Lys522Asn)
|
rs2071087775
|
|
NM_000282.4(PCCA):c.1567A>T (p.Asn523Tyr)
|
|
|
NM_000282.4(PCCA):c.1568A>C (p.Asn523Thr)
|
rs2152751879
|
|
NM_000282.4(PCCA):c.1569C>G (p.Asn523Lys)
|
|
|
NM_000282.4(PCCA):c.1589C>T (p.Ser530Leu)
|
rs2071090257
|
|
NM_000282.4(PCCA):c.1591T>C (p.Ser531Pro)
|
|
|
NM_000282.4(PCCA):c.1596G>T (p.Leu532Phe)
|
|
|
NM_000282.4(PCCA):c.15G>A (p.Trp5Ter)
|
rs11539554
|
|
NM_000282.4(PCCA):c.1612T>A (p.Leu538Ile)
|
|
|
NM_000282.4(PCCA):c.1622A>G (p.Gln541Arg)
|
rs2152751997
|
|
NM_000282.4(PCCA):c.1626T>G (p.His542Gln)
|
|
|
NM_000282.4(PCCA):c.1643+1_1643+2dup
|
rs1555425626
|
|
NM_000282.4(PCCA):c.1643+6G>A
|
|
|
NM_000282.4(PCCA):c.1651G>A (p.Val551Ile)
|
rs61749895
|
|
NM_000282.4(PCCA):c.1666A>G (p.Ile556Val)
|
rs2152811800
|
|
NM_000282.4(PCCA):c.1682T>G (p.Leu561Arg)
|
rs2152811823
|
|
NM_000282.4(PCCA):c.1687G>A (p.Val563Ile)
|
|
|
NM_000282.4(PCCA):c.1694T>C (p.Leu565Ser)
|
|
|
NM_000282.4(PCCA):c.1697A>G (p.His566Arg)
|
|
|
NM_000282.4(PCCA):c.1705G>A (p.Val569Ile)
|
|
|
NM_000282.4(PCCA):c.1714G>A (p.Val572Ile)
|
|
|
NM_000282.4(PCCA):c.1729A>G (p.Asn577Asp)
|
rs1475268855
|
|
NM_000282.4(PCCA):c.172C>T (p.Pro58Ser)
|
|
|
NM_000282.4(PCCA):c.1731T>A (p.Asn577Lys)
|
rs2152811890
|
|
NM_000282.4(PCCA):c.1760G>C (p.Gly587Ala)
|
rs2079091617
|
|
NM_000282.4(PCCA):c.1792C>G (p.Leu598Val)
|
rs2079093758
|
|
NM_000282.4(PCCA):c.1799C>T (p.Ser600Leu)
|
|
|
NM_000282.4(PCCA):c.1817G>C (p.Ser606Thr)
|
rs2079095516
|
|
NM_000282.4(PCCA):c.1819G>A (p.Val607Ile)
|
|
|
NM_000282.4(PCCA):c.1819G>C (p.Val607Leu)
|
|
|
NM_000282.4(PCCA):c.1819G>T (p.Val607Phe)
|
rs751083923
|
|
NM_000282.4(PCCA):c.1828A>G (p.Thr610Ala)
|
rs749767976
|
|
NM_000282.4(PCCA):c.183+3A>G
|
|
|
NM_000282.4(PCCA):c.183+4_183+7del
|
rs1555342581
|
|
NM_000282.4(PCCA):c.1835G>C (p.Arg612Thr)
|
rs1947530469
|
|
NM_000282.4(PCCA):c.183A>G (p.Lys61=)
|
|
|
NM_000282.4(PCCA):c.1845+10584_1845+10585delinsTC
|
|
|
NM_000282.4(PCCA):c.1856G>C (p.Arg619Pro)
|
|
|
NM_000282.4(PCCA):c.1877G>A (p.Ser626Asn)
|
|
|
NM_000282.4(PCCA):c.1883A>C (p.Gln628Pro)
|
|
|
NM_000282.4(PCCA):c.1884G>A (p.Gln628=)
|
rs552141237
|
|
NM_000282.4(PCCA):c.1898T>C (p.Val633Ala)
|
|
|
NM_000282.4(PCCA):c.1898T>G (p.Val633Gly)
|
rs375617644
|
|
NM_000282.4(PCCA):c.1903A>G (p.Lys635Glu)
|
|
|
NM_000282.4(PCCA):c.1919C>G (p.Thr640Ser)
|
rs1594099709
|
|
NM_000282.4(PCCA):c.1943A>C (p.Lys648Thr)
|
|
|
NM_000282.4(PCCA):c.1943A>G (p.Lys648Arg)
|
|
|
NM_000282.4(PCCA):c.1953G>A (p.Leu651=)
|
rs765771203
|
|
NM_000282.4(PCCA):c.1969G>A (p.Asp657Asn)
|
|
|
NM_000282.4(PCCA):c.1978A>T (p.Ser660Cys)
|
|
|
NM_000282.4(PCCA):c.1981G>A (p.Val661Ile)
|
|
|
NM_000282.4(PCCA):c.1985T>G (p.Leu662Arg)
|
|
|
NM_000282.4(PCCA):c.1994C>T (p.Pro665Leu)
|
|
|
NM_000282.4(PCCA):c.19G>C (p.Gly7Arg)
|
|
|
NM_000282.4(PCCA):c.1A>G (p.Met1Val)
|
|
|
NM_000282.4(PCCA):c.2005G>C (p.Val669Leu)
|
|
|
NM_000282.4(PCCA):c.2017G>A (p.Val673Ile)
|
rs142646074
|
|
NM_000282.4(PCCA):c.2017G>C (p.Val673Leu)
|
rs142646074
|
|
NM_000282.4(PCCA):c.2028G>T (p.Lys676Asn)
|
|
|
NM_000282.4(PCCA):c.2040+9TG[3]
|
rs751014655
|
|
NM_000282.4(PCCA):c.2040G>A (p.Ala680=)
|
rs369982920
|
|
NM_000282.4(PCCA):c.2062T>C (p.Cys688Arg)
|
rs774949844
|
|
NM_000282.4(PCCA):c.2082A>T (p.Lys694Asn)
|
rs2087964084
|
|
NM_000282.4(PCCA):c.209A>G (p.Asn70Ser)
|
|
|
NM_000282.4(PCCA):c.20G>C (p.Gly7Ala)
|
|
|
NM_000282.4(PCCA):c.2108_2111del (p.Lys703fs)
|
|
|
NM_000282.4(PCCA):c.2113G>T (p.Gly705Cys)
|
rs2087968295
|
|
NM_000282.4(PCCA):c.2115C>T (p.Gly705=)
|
|
|
NM_000282.4(PCCA):c.2117C>T (p.Thr706Met)
|
|
|
NM_000282.4(PCCA):c.2118+3G>C
|
|
|
NM_000282.4(PCCA):c.2118G>A (p.Thr706=)
|
rs758468297
|
|
NM_000282.4(PCCA):c.2125T>C (p.Ser709Pro)
|
|
|
NM_000282.4(PCCA):c.2126C>T (p.Ser709Phe)
|
|
|
NM_000282.4(PCCA):c.2134T>C (p.Cys712Arg)
|
rs2088292660
|
|
NM_000282.4(PCCA):c.2135G>A (p.Cys712Tyr)
|
|
|
NM_000282.4(PCCA):c.2155G>A (p.Gly719Arg)
|
rs141286340
|
|
NM_000282.4(PCCA):c.2161G>T (p.Gly721Trp)
|
|
|
NM_000282.4(PCCA):c.2162_2163insAG (p.Asp722fs)
|
rs749875940
|
|
NM_000282.4(PCCA):c.2165A>T (p.Asp722Val)
|
rs1283571787
|
|
NM_000282.4(PCCA):c.2171T>A (p.Leu724His)
|
|
|
NM_000282.4(PCCA):c.252G>T (p.Lys84Asn)
|
|
|
NM_000282.4(PCCA):c.257G>A (p.Gly86Asp)
|
|
|
NM_000282.4(PCCA):c.264G>C (p.Lys88Asn)
|
rs2152279056
|
|
NM_000282.4(PCCA):c.286G>A (p.Val96Ile)
|
|
|
NM_000282.4(PCCA):c.287T>C (p.Val96Ala)
|
rs2048368792
|
|
NM_000282.4(PCCA):c.289G>C (p.Asp97His)
|
|
|
NM_000282.4(PCCA):c.290A>G (p.Asp97Gly)
|
|
|
NM_000282.4(PCCA):c.293C>T (p.Ala98Val)
|
rs2152279131
|
|
NM_000282.4(PCCA):c.29C>A (p.Pro10Gln)
|
rs1251572354
|
|
NM_000282.4(PCCA):c.29C>T (p.Pro10Leu)
|
rs1251572354
|
|
NM_000282.4(PCCA):c.300+2dup
|
rs2048370100
|
|
NM_000282.4(PCCA):c.305A>C (p.His102Pro)
|
|
|
NM_000282.4(PCCA):c.315G>A (p.Met105Ile)
|
|
|
NM_000282.4(PCCA):c.32T>A (p.Leu11Gln)
|
|
|
NM_000282.4(PCCA):c.331T>A (p.Cys111Ser)
|
|
|
NM_000282.4(PCCA):c.334G>A (p.Val112Ile)
|
|
|
NM_000282.4(PCCA):c.340C>A (p.Pro114Thr)
|
|
|
NM_000282.4(PCCA):c.346C>G (p.Pro116Ala)
|
rs1566594619
|
|
NM_000282.4(PCCA):c.370A>G (p.Met124Val)
|
rs748802820
|
|
NM_000282.4(PCCA):c.380T>G (p.Ile127Ser)
|
|
|
NM_000282.4(PCCA):c.383T>C (p.Met128Thr)
|
|
|
NM_000282.4(PCCA):c.391A>G (p.Ile131Val)
|
|
|
NM_000282.4(PCCA):c.391A>T (p.Ile131Phe)
|
|
|
NM_000282.4(PCCA):c.409C>A (p.Gln137Lys)
|
|
|
NM_000282.4(PCCA):c.415G>A (p.Val139Ile)
|
rs770129876
|
|
NM_000282.4(PCCA):c.415G>T (p.Val139Leu)
|
|
|
NM_000282.4(PCCA):c.418C>T (p.His140Tyr)
|
|
|
NM_000282.4(PCCA):c.419A>G (p.His140Arg)
|
|
|
NM_000282.4(PCCA):c.42C>T (p.Ala14=)
|
rs200714802
|
|
NM_000282.4(PCCA):c.449A>G (p.Lys150Arg)
|
|
|
NM_000282.4(PCCA):c.458C>A (p.Ala153Asp)
|
|
|
NM_000282.4(PCCA):c.460A>G (p.Arg154Gly)
|
|
|
NM_000282.4(PCCA):c.479A>G (p.Asp160Gly)
|
|
|
NM_000282.4(PCCA):c.484G>T (p.Val162Phe)
|
|
|
NM_000282.4(PCCA):c.488T>A (p.Phe163Tyr)
|
rs1177671858
|
|
NM_000282.4(PCCA):c.497C>T (p.Pro166Leu)
|
|
|
NM_000282.4(PCCA):c.4G>C (p.Ala2Pro)
|
|
|
NM_000282.4(PCCA):c.505C>T (p.His169Tyr)
|
|
|
NM_000282.4(PCCA):c.518C>G (p.Ala173Gly)
|
|
|
NM_000282.4(PCCA):c.52G>C (p.Gly18Arg)
|
rs779286461
|
|
NM_000282.4(PCCA):c.531G>C (p.Lys177Asn)
|
rs2152478767
|
|
NM_000282.4(PCCA):c.551C>G (p.Ala184Gly)
|
rs2059068868
|
|
NM_000282.4(PCCA):c.574A>G (p.Ile192Val)
|
|
|
NM_000282.4(PCCA):c.578C>T (p.Pro193Leu)
|
rs1225108460
|
|
NM_000282.4(PCCA):c.587A>G (p.Asp196Gly)
|
|
|
NM_000282.4(PCCA):c.58T>A (p.Trp20Arg)
|
|
|
NM_000282.4(PCCA):c.58T>C (p.Trp20Arg)
|
rs1302125451
|
|
NM_000282.4(PCCA):c.592G>A (p.Val198Ile)
|
|
|
NM_000282.4(PCCA):c.602A>T (p.Asp201Val)
|
|
|
NM_000282.4(PCCA):c.608AAG[1] (p.Glu204del)
|
rs750672608
|
|
NM_000282.4(PCCA):c.611A>C (p.Glu204Ala)
|
|
|
NM_000282.4(PCCA):c.611A>G (p.Glu204Gly)
|
|
|
NM_000282.4(PCCA):c.615dup (p.Val206fs)
|
rs1566767338
|
|
NM_000282.4(PCCA):c.633A>T (p.Glu211Asp)
|
|
|
NM_000282.4(PCCA):c.637+3A>G
|
|
|
NM_000282.4(PCCA):c.649A>G (p.Met217Val)
|
rs372844772
|
|
NM_000282.4(PCCA):c.64C>T (p.Pro22Ser)
|
|
|
NM_000282.4(PCCA):c.650T>C (p.Met217Thr)
|
rs750593565
|
|
NM_000282.4(PCCA):c.651G>C (p.Met217Ile)
|
rs1018685292
|
|
NM_000282.4(PCCA):c.652A>C (p.Ile218Leu)
|
rs1012525921
|
|
NM_000282.4(PCCA):c.659C>A (p.Ala220Asp)
|
rs1555396108
|
|
NM_000282.4(PCCA):c.674G>A (p.Gly225Asp)
|
rs2062161647
|
|
NM_000282.4(PCCA):c.685A>G (p.Met229Val)
|
|
|
NM_000282.4(PCCA):c.701A>G (p.Asp234Gly)
|
|
|
NM_000282.4(PCCA):c.702T>A (p.Asp234Glu)
|
|
|
NM_000282.4(PCCA):c.717-13_717-11del
|
rs2152564870
|
|
NM_000282.4(PCCA):c.719A>C (p.Asp240Ala)
|
|
|
NM_000282.4(PCCA):c.729A>T (p.Arg243Ser)
|
|
|
NM_000282.4(PCCA):c.740A>C (p.Gln247Pro)
|
|
|
NM_000282.4(PCCA):c.742G>A (p.Glu248Lys)
|
rs1064793224
|
|
NM_000282.4(PCCA):c.755G>C (p.Ser252Thr)
|
|
|
NM_000282.4(PCCA):c.763G>A (p.Asp255Asn)
|
|
|
NM_000282.4(PCCA):c.764A>G (p.Asp255Gly)
|
rs746776657
|
|
NM_000282.4(PCCA):c.77T>C (p.Met26Thr)
|
|
|
NM_000282.4(PCCA):c.792T>G (p.Ile264Met)
|
rs1484956776
|
|
NM_000282.4(PCCA):c.797A>C (p.Asn266Thr)
|
rs2152564988
|
|
NM_000282.4(PCCA):c.820G>A (p.Val274Ile)
|
rs767299022
|
|
NM_000282.4(PCCA):c.832A>G (p.Lys278Glu)
|
rs1595032543
|
|
NM_000282.4(PCCA):c.841A>C (p.Asn281His)
|
rs2152572294
|
|
NM_000282.4(PCCA):c.858T>A (p.Asn286Lys)
|
rs778427348
|
|
NM_000282.4(PCCA):c.893A>C (p.Lys298Thr)
|
|
|
NM_000282.4(PCCA):c.895G>A (p.Val299Met)
|
rs1188239325
|
|
NM_000282.4(PCCA):c.904G>C (p.Glu302Gln)
|
rs775686458
|
|
NM_000282.4(PCCA):c.914+8T>A
|
rs543352333
|
|
NM_000282.4(PCCA):c.915-8A>G
|
rs2063416324
|
|
NM_000282.4(PCCA):c.915C>A (p.Ser305Arg)
|
|
|
NM_000282.4(PCCA):c.915C>G (p.Ser305Arg)
|
rs768758704
|
|
NM_000282.4(PCCA):c.915C>T (p.Ser305=)
|
|
|
NM_000282.4(PCCA):c.917T>A (p.Ile306Asn)
|
|
|
NM_000282.4(PCCA):c.926A>T (p.Asp309Val)
|
|
|
NM_000282.4(PCCA):c.929C>G (p.Ala310Gly)
|
rs146927771
|
|
NM_000282.4(PCCA):c.929C>T (p.Ala310Val)
|
rs146927771
|
|
NM_000282.4(PCCA):c.930G>A (p.Ala310=)
|
|
|
NM_000282.4(PCCA):c.933G>C (p.Glu311Asp)
|
rs369790356
|
|
NM_000282.4(PCCA):c.934A>T (p.Thr312Ser)
|
|
|
NM_000282.4(PCCA):c.937C>G (p.Arg313Gly)
|
rs138149179
|
|
NM_000282.4(PCCA):c.938G>A (p.Arg313Gln)
|
|
|
NM_000282.4(PCCA):c.944C>T (p.Ala315Val)
|
rs1302507711
|
|
NM_000282.4(PCCA):c.947T>A (p.Met316Lys)
|
rs137861347
|
|
NM_000282.4(PCCA):c.947T>C (p.Met316Thr)
|
|
|
NM_000282.4(PCCA):c.947T>G (p.Met316Arg)
|
rs137861347
|
|
NM_000282.4(PCCA):c.958G>A (p.Ala320Thr)
|
rs1434912184
|
|
NM_000282.4(PCCA):c.962T>C (p.Val321Ala)
|
|
|
NM_000282.4(PCCA):c.967C>T (p.Leu323Phe)
|
rs1394612377
|
|
NM_000282.4(PCCA):c.999G>A (p.Gly333=)
|
rs2063427075
|
|
NM_000283.4(PDE6B):c.*115T>A
|
rs1194338211
|
|
NM_000283.4(PDE6B):c.*390T>C
|
rs886059549
|
|
NM_000283.4(PDE6B):c.*561C>T
|
rs886059551
|
|
NM_000283.4(PDE6B):c.*592A>G
|
rs886059552
|
|
NM_000283.4(PDE6B):c.*626T>C
|
rs886059553
|
|
NM_000283.4(PDE6B):c.1026C>T (p.Ser342=)
|
rs754298712
|
|
NM_000283.4(PDE6B):c.1107+219G>A
|
|
|
NM_000283.4(PDE6B):c.110A>G (p.Glu37Gly)
|
rs1208473466
|
|
NM_000283.4(PDE6B):c.117G>T (p.Gly39=)
|
rs140538420
|
|
NM_000283.4(PDE6B):c.1239G>A (p.Gln413=)
|
rs1736347354
|
|
NM_000283.4(PDE6B):c.1592G>A (p.Arg531Gln)
|
rs144664551
|
|
NM_000283.4(PDE6B):c.1742A>G (p.Tyr581Cys)
|
rs1263635426
|
|
NM_000283.4(PDE6B):c.1744T>C (p.Tyr582His)
|
rs1737229618
|
|
NM_000283.4(PDE6B):c.1781G>T (p.Gly594Val)
|
rs766049601
|
|
NM_000283.4(PDE6B):c.1804C>A (p.Arg602Ser)
|
rs754298498
|
|
NM_000283.4(PDE6B):c.1811C>G (p.Thr604Ser)
|
rs752738349
|
|
NM_000283.4(PDE6B):c.1833-3C>G
|
rs1241323917
|
|
NM_000283.4(PDE6B):c.1896T>C (p.Phe632=)
|
rs1737323722
|
|
NM_000283.4(PDE6B):c.2003A>G (p.Asp668Gly)
|
rs1737442897
|
|
NM_000283.4(PDE6B):c.2073C>T (p.Asp691=)
|
rs886059544
|
|
NM_000283.4(PDE6B):c.2117A>T (p.Lys706Met)
|
|
|
NM_000283.4(PDE6B):c.2129+9G>C
|
rs753943492
|
|
NM_000283.4(PDE6B):c.2152G>A (p.Asp718Asn)
|
rs150639487
|
|
NM_000283.4(PDE6B):c.2174C>T (p.Pro725Leu)
|
rs886059546
|
|
NM_000283.4(PDE6B):c.2193G>A (p.Lys731=)
|
|
|
NM_000283.4(PDE6B):c.2269-7C>T
|
rs1268705787
|
|
NM_000283.4(PDE6B):c.2353-13C>T
|
rs369466418
|
|
NM_000283.4(PDE6B):c.2353-7_2353-3del
|
rs1737974000
|
|
NM_000283.4(PDE6B):c.2407A>G (p.Asn803Asp)
|
rs771338607
|
|
NM_000283.4(PDE6B):c.298C>T (p.Arg100Cys)
|
rs537263212
|
|
NM_000283.4(PDE6B):c.483C>T (p.Ser161=)
|
rs886059526
|
|
NM_000283.4(PDE6B):c.546T>A (p.Asn182Lys)
|
rs368094720
|
|
NM_000283.4(PDE6B):c.711+12C>T
|
rs886059527
|
|
NM_000283.4(PDE6B):c.853-9T>C
|
rs886059542
|
|
NM_000283.4(PDE6B):c.946G>A (p.Val316Met)
|
|
|
NM_000283.4(PDE6B):c.986T>C (p.Val329Ala)
|
rs1736021671
|
|
NM_000317.3(PTS):c.*148C>A
|
rs910098440
|
|
NM_000317.3(PTS):c.*58G>C
|
rs1307423080
|
|
NM_000317.3(PTS):c.105A>C (p.Glu35Asp)
|
|
|
NM_000317.3(PTS):c.108C>G (p.Asn36Lys)
|
rs1449216377
|
|
NM_000317.3(PTS):c.118T>C (p.Phe40Leu)
|
rs1555198118
|
|
NM_000317.3(PTS):c.11A>G (p.Glu4Gly)
|
|
|
NM_000317.3(PTS):c.130A>G (p.Asn44Asp)
|
|
|
NM_000317.3(PTS):c.136C>A (p.Pro46Thr)
|
rs2135408262
|
|
NM_000317.3(PTS):c.146A>G (p.His49Arg)
|
rs750229518
|
|
NM_000317.3(PTS):c.148G>A (p.Gly50Arg)
|
rs922940879
|
|
NM_000317.3(PTS):c.149G>A (p.Gly50Glu)
|
rs2135408273
|
|
NM_000317.3(PTS):c.158A>C (p.Tyr53Ser)
|
rs2135408283
|
|
NM_000317.3(PTS):c.164-37dup
|
|
|
NM_000317.3(PTS):c.164-7T>A
|
rs1555198232
|
|
NM_000317.3(PTS):c.186G>A (p.Glu62=)
|
rs189051075
|
|
NM_000317.3(PTS):c.193C>T (p.Pro65Ser)
|
|
|
NM_000317.3(PTS):c.196G>A (p.Ala66Thr)
|
|
|
NM_000317.3(PTS):c.209T>A (p.Val70Asp)
|
rs1592880489
|
|
NM_000317.3(PTS):c.243+4A>G
|
|
|
NM_000317.3(PTS):c.248C>A (p.Ala83Glu)
|
rs775426269
|
|
NM_000317.3(PTS):c.26G>A (p.Arg9His)
|
rs1213277062
|
|
NM_000317.3(PTS):c.274A>C (p.Asn92His)
|
rs1859964367
|
|
NM_000317.3(PTS):c.281A>G (p.Asp94Gly)
|
rs1057517811
|
|
NM_000317.3(PTS):c.296A>G (p.Tyr99Cys)
|
rs1555198458
|
|
NM_000317.3(PTS):c.308T>C (p.Val103Ala)
|
rs1555198459
|
|
NM_000317.3(PTS):c.326A>G (p.Asn109Ser)
|
rs1361000720
|
|
NM_000317.3(PTS):c.340A>G (p.Ile114Val)
|
rs1555198495
|
|
NM_000317.3(PTS):c.356A>G (p.Gln119Arg)
|
|
|
NM_000317.3(PTS):c.364C>A (p.Leu122Ile)
|
|
|
NM_000317.3(PTS):c.400G>T (p.Glu134Ter)
|
rs779681799
|
|
NM_000317.3(PTS):c.402A>C (p.Glu134Asp)
|
rs746993982
|
|
NM_000317.3(PTS):c.429A>C (p.Lys143Asn)
|
rs1555198513
|
|
NM_000317.3(PTS):c.438G>C (p.Ter146Tyr)
|
rs1859973316
|
|
NM_000317.3(PTS):c.47G>A (p.Arg16His)
|
|
|
NM_000317.3(PTS):c.83+1G>A
|
rs927103678
|
|
NM_000317.3(PTS):c.83+5G>A
|
|
|
NM_000317.3(PTS):c.83+5G>T
|
|
|
NM_000317.3(PTS):c.91C>A (p.Leu31Ile)
|
|
|
NM_000320.3(QDPR):c.*187A>C
|
rs1717979575
|
|
NM_000320.3(QDPR):c.*277T>C
|
rs1717973938
|
|
NM_000320.3(QDPR):c.*374G>C
|
rs1717970851
|
|
NM_000320.3(QDPR):c.*450T>A
|
rs886059237
|
|
NM_000320.3(QDPR):c.*46C>A
|
rs567249048
|
|
NM_000320.3(QDPR):c.-17G>T
|
rs560782260
|
|
NM_000320.3(QDPR):c.11C>T (p.Ala4Val)
|
|
|
NM_000320.3(QDPR):c.121G>T (p.Asp41Tyr)
|
|
|
NM_000320.3(QDPR):c.125TGG[1] (p.Val43del)
|
|
|
NM_000320.3(QDPR):c.134A>G (p.Asn45Ser)
|
|
|
NM_000320.3(QDPR):c.153C>G (p.Ser51Arg)
|
rs2108997310
|
|
NM_000320.3(QDPR):c.163A>G (p.Lys55Glu)
|
|
|
NM_000320.3(QDPR):c.173A>C (p.Asp58Ala)
|
|
|
NM_000320.3(QDPR):c.190G>T (p.Ala64Ser)
|
rs1480794443
|
|
NM_000320.3(QDPR):c.227G>A (p.Gly76Asp)
|
rs2108994422
|
|
NM_000320.3(QDPR):c.240G>A (p.Val80=)
|
|
|
NM_000320.3(QDPR):c.24C>T (p.Gly8=)
|
|
|
NM_000320.3(QDPR):c.256G>A (p.Val86Ile)
|
rs186929388
|
|
NM_000320.3(QDPR):c.271G>A (p.Ala91Thr)
|
rs147257284
|
|
NM_000320.3(QDPR):c.296-15G>T
|
rs776479029
|
|
NM_000320.3(QDPR):c.297T>C (p.Ser99=)
|
rs1309099253
|
|
NM_000320.3(QDPR):c.308A>G (p.Asn103Ser)
|
rs1248495029
|
|
NM_000320.3(QDPR):c.311G>A (p.Cys104Tyr)
|
rs2108993051
|
|
NM_000320.3(QDPR):c.331A>G (p.Ser111Gly)
|
rs1404740384
|
|
NM_000320.3(QDPR):c.332G>T (p.Ser111Ile)
|
|
|
NM_000320.3(QDPR):c.365C>A (p.Ala122Asp)
|
rs1553875105
|
|
NM_000320.3(QDPR):c.374A>G (p.His125Arg)
|
rs201283946
|
|
NM_000320.3(QDPR):c.37G>A (p.Val13Met)
|
|
|
NM_000320.3(QDPR):c.385G>A (p.Gly129Arg)
|
|
|
NM_000320.3(QDPR):c.3GGC[4] (p.Ala7del)
|
rs762480653
|
|
NM_000320.3(QDPR):c.3GGC[6] (p.Ala7dup)
|
rs762480653
|
|
NM_000320.3(QDPR):c.3GGC[7] (p.Ala7_Gly8insAlaAla)
|
|
|
NM_000320.3(QDPR):c.412A>C (p.Lys138Gln)
|
rs2108992947
|
|
NM_000320.3(QDPR):c.415G>C (p.Ala139Pro)
|
rs779606633
|
|
NM_000320.3(QDPR):c.437-6T>A
|
rs886059239
|
|
NM_000320.3(QDPR):c.482G>T (p.Cys161Phe)
|
|
|
NM_000320.3(QDPR):c.485A>G (p.Gln162Arg)
|
|
|
NM_000320.3(QDPR):c.486G>C (p.Gln162His)
|
rs761732291
|
|
NM_000320.3(QDPR):c.545+2dup
|
rs1718190006
|
|
NM_000320.3(QDPR):c.546G>A (p.Pro182=)
|
rs1176312266
|
|
NM_000320.3(QDPR):c.556G>C (p.Asp186His)
|
|
|
NM_000320.3(QDPR):c.560C>A (p.Thr187Asn)
|
rs2108986735
|
|
NM_000320.3(QDPR):c.578C>T (p.Ser193Leu)
|
rs2108986715
|
|
NM_000320.3(QDPR):c.580A>G (p.Met194Val)
|
|
|
NM_000320.3(QDPR):c.5C>T (p.Ala2Val)
|
|
|
NM_000320.3(QDPR):c.647_655dup (p.Ile216_Gly218dup)
|
rs757385912
|
|
NM_000320.3(QDPR):c.662G>A (p.Arg221Gln)
|
rs1478668973
|
|
NM_000320.3(QDPR):c.668G>A (p.Ser223Asn)
|
|
|
NM_000320.3(QDPR):c.67G>A (p.Gly23Ser)
|
|
|
NM_000320.3(QDPR):c.689T>C (p.Val230Ala)
|
rs761568067
|
|
NM_000320.3(QDPR):c.68G>C (p.Gly23Ala)
|
rs104893863
|
|
NM_000320.3(QDPR):c.70T>G (p.Ser24Ala)
|
|
|
NM_000320.3(QDPR):c.91C>T (p.Arg31Trp)
|
rs2108999046
|
|
NM_000320.3(QDPR):c.92G>C (p.Arg31Pro)
|
|
|
NM_000322.5(PRPH2):c.*152G>C
|
rs113384495
|
|
NM_000322.5(PRPH2):c.*1533A>G
|
rs1799950043
|
|
NM_000322.5(PRPH2):c.*154C>T
|
rs886061403
|
|
NM_000322.5(PRPH2):c.*1580C>G
|
rs886061399
|
|
NM_000322.5(PRPH2):c.*213A>C
|
rs886061402
|
|
NM_000322.5(PRPH2):c.-116C>G
|
rs886061406
|
|
NM_000322.5(PRPH2):c.1024G>T (p.Ala342Ser)
|
rs1799983757
|
|
NM_000322.5(PRPH2):c.484G>A (p.Glu162Lys)
|
rs769939935
|
|
NM_000322.5(PRPH2):c.494G>T (p.Cys165Phe)
|
rs61755788
|
|
NM_000322.5(PRPH2):c.517G>A (p.Asp173Asn)
|
rs1582780487
|
|
NM_000322.5(PRPH2):c.521G>C (p.Trp174Ser)
|
rs1761906296
|
|
NM_000322.5(PRPH2):c.646C>T (p.Pro216Ser)
|
rs61755805
|
|
NM_000322.5(PRPH2):c.652T>C (p.Ser218Pro)
|
rs1582764878
|
|
NM_000322.5(PRPH2):c.745G>A (p.Gly249Ser)
|
rs2152005248
|
|
NM_000322.5(PRPH2):c.809T>C (p.Leu270Pro)
|
rs2152005198
|
|
NM_000322.5(PRPH2):c.92G>T (p.Gly31Val)
|
rs886061404
|
|
NM_000322.5(PRPH2):c.937_938del (p.Pro313fs)
|
rs1799986489
|
|
NM_000322.5(PRPH2):c.995T>A (p.Val332Glu)
|
rs1582759492
|
|
NM_000326.5(RLBP1):c.*135G>A
|
rs2051524190
|
|
NM_000326.5(RLBP1):c.*301T>A
|
rs2051522830
|
|
NM_000326.5(RLBP1):c.*334T>C
|
rs886051500
|
|
NM_000326.5(RLBP1):c.-182G>C
|
rs886051503
|
|
NM_000326.5(RLBP1):c.105C>T (p.Gly35=)
|
rs373881009
|
|
NM_000326.5(RLBP1):c.228G>C (p.Ser76=)
|
rs202116993
|
|
NM_000326.5(RLBP1):c.304G>C (p.Ala102Pro)
|
rs143121722
|
|
NM_000326.5(RLBP1):c.526-4C>T
|
rs1200459832
|
|
NM_000326.5(RLBP1):c.78A>T (p.Thr26=)
|
rs780567351
|
|
NM_000326.5(RLBP1):c.839T>C (p.Ile280Thr)
|
rs2051527243
|
|
NM_000326.5(RLBP1):c.924C>A (p.Pro308=)
|
rs144615495
|
|
NM_000327.3(ROM1):c.-118G>C
|
rs886048438
|
|
NM_000327.3(ROM1):c.-27C>T
|
rs886048439
|
|
NM_000327.3(ROM1):c.-301C>T
|
rs886048437
|
|
NM_000327.3(ROM1):c.-495G>T
|
rs886048435
|
|
NM_000327.3(ROM1):c.-499G>C
|
rs539586649
|
|
NM_000327.4(ROM1):c.167C>G (p.Ser56Cys)
|
rs199847029
|
|
NM_000327.4(ROM1):c.167C>T (p.Ser56Phe)
|
rs199847029
|
|
NM_000327.4(ROM1):c.178C>A (p.Pro60Thr)
|
rs199757012
|
|
NM_000327.4(ROM1):c.339del (p.Leu114fs)
|
rs71458427
|
|
NM_000327.4(ROM1):c.577C>G (p.Arg193Gly)
|
rs754473229
|
|
NM_000327.4(ROM1):c.590+13C>A
|
rs139654544
|
|
NM_000327.4(ROM1):c.629A>G (p.Asp210Gly)
|
rs200287184
|
|
NM_000329.3(RPE65):c.*128G>A
|
rs1385513974
|
|
NM_000329.3(RPE65):c.*424C>A
|
rs1645803830
|
|
NM_000329.3(RPE65):c.*630C>T
|
rs1645802157
|
|
NM_000329.3(RPE65):c.*760A>C
|
rs886046508
|
|
NM_000329.3(RPE65):c.*946C>T
|
rs1645800007
|
|
NM_000329.3(RPE65):c.1013A>G (p.Tyr338Cys)
|
rs1645875407
|
|
NM_000329.3(RPE65):c.101T>C (p.Ile34Thr)
|
|
|
NM_000329.3(RPE65):c.1031C>T (p.Ala344Val)
|
|
|
NM_000329.3(RPE65):c.1038A>C (p.Leu346Phe)
|
rs2100817108
|
|
NM_000329.3(RPE65):c.1040G>T (p.Arg347Leu)
|
rs562037932
|
|
NM_000329.3(RPE65):c.1058T>G (p.Val353Gly)
|
rs2100817038
|
|
NM_000329.3(RPE65):c.1060A>G (p.Lys354Glu)
|
|
|
NM_000329.3(RPE65):c.1078G>A (p.Ala360Thr)
|
rs62646883
|
|
NM_000329.3(RPE65):c.1088C>A (p.Pro363His)
|
|
|
NM_000329.3(RPE65):c.1098G>C (p.Arg366Ser)
|
rs764589805
|
|
NM_000329.3(RPE65):c.11+4_11+7del
|
|
|
NM_000329.3(RPE65):c.1101A>G (p.Arg367=)
|
rs1553152989
|
|
NM_000329.3(RPE65):c.1115T>C (p.Leu372Ser)
|
|
|
NM_000329.3(RPE65):c.1118A>G (p.Asn373Ser)
|
rs1645874179
|
|
NM_000329.3(RPE65):c.1123G>A (p.Asp375Asn)
|
rs1645874113
|
|
NM_000329.3(RPE65):c.1123G>C (p.Asp375His)
|
rs1645874113
|
|
NM_000329.3(RPE65):c.1128G>A (p.Lys376=)
|
|
|
NM_000329.3(RPE65):c.1149A>T (p.Leu383Phe)
|
|
|
NM_000329.3(RPE65):c.1150G>T (p.Val384Phe)
|
rs1645826797
|
|
NM_000329.3(RPE65):c.1169C>T (p.Thr390Ile)
|
rs1645826475
|
|
NM_000329.3(RPE65):c.1183C>A (p.Leu395Met)
|
|
|
NM_000329.3(RPE65):c.1190G>A (p.Ser397Asn)
|
|
|
NM_000329.3(RPE65):c.1201_1203dup (p.Ile401dup)
|
rs2100807868
|
|
NM_000329.3(RPE65):c.1205G>C (p.Trp402Ser)
|
rs774130993
|
|
NM_000329.3(RPE65):c.1213C>G (p.Pro405Ala)
|
|
|
NM_000329.3(RPE65):c.1234C>T (p.Pro412Ser)
|
|
|
NM_000329.3(RPE65):c.1265A>G (p.Asn422Ser)
|
|
|
NM_000329.3(RPE65):c.1282G>T (p.Gly428Trp)
|
rs2100807435
|
|
NM_000329.3(RPE65):c.1291T>C (p.Tyr431His)
|
|
|
NM_000329.3(RPE65):c.1294A>C (p.Thr432Pro)
|
rs1645824500
|
|
NM_000329.3(RPE65):c.1294A>T (p.Thr432Ser)
|
rs1645824500
|
|
NM_000329.3(RPE65):c.1298A>G (p.Tyr433Cys)
|
rs147206805
|
|
NM_000329.3(RPE65):c.1307G>A (p.Gly436Glu)
|
rs62637002
|
|
NM_000329.3(RPE65):c.131G>T (p.Arg44Leu)
|
rs61751282
|
|
NM_000329.3(RPE65):c.1322A>G (p.His441Arg)
|
rs1645824226
|
|
NM_000329.3(RPE65):c.1328T>C (p.Val443Ala)
|
rs1645824187
|
|
NM_000329.3(RPE65):c.1338+3A>T
|
rs1645824066
|
|
NM_000329.3(RPE65):c.1339-3C>G
|
|
|
NM_000329.3(RPE65):c.1348C>G (p.Leu450Val)
|
rs2100807072
|
|
NM_000329.3(RPE65):c.1357A>G (p.Lys453Glu)
|
|
|
NM_000329.3(RPE65):c.1359A>T (p.Lys453Asn)
|
|
|
NM_000329.3(RPE65):c.1380G>T (p.Trp460Cys)
|
rs1645823028
|
|
NM_000329.3(RPE65):c.1386G>A (p.Glu462=)
|
rs886046509
|
|
NM_000329.3(RPE65):c.1402T>A (p.Ser468Thr)
|
rs2100806926
|
|
NM_000329.3(RPE65):c.1409C>A (p.Pro470His)
|
rs774211361
|
|
NM_000329.3(RPE65):c.1412T>C (p.Ile471Thr)
|
|
|
NM_000329.3(RPE65):c.1424A>C (p.His475Pro)
|
rs2100806867
|
|
NM_000329.3(RPE65):c.1429G>C (p.Asp477His)
|
rs2100806843
|
|
NM_000329.3(RPE65):c.1432G>A (p.Ala478Thr)
|
rs2100806829
|
|
NM_000329.3(RPE65):c.1440AGA[1] (p.Glu481del)
|
rs1557595745
|
|
NM_000329.3(RPE65):c.1444G>T (p.Asp482Tyr)
|
rs2100806802
|
|
NM_000329.3(RPE65):c.1450+3A>G
|
|
|
NM_000329.3(RPE65):c.1456G>A (p.Val486Ile)
|
|
|
NM_000329.3(RPE65):c.1456G>T (p.Val486Phe)
|
rs2100805317
|
|
NM_000329.3(RPE65):c.1496C>T (p.Pro499Leu)
|
rs1557595139
|
|
NM_000329.3(RPE65):c.1524G>C (p.Lys508Asn)
|
|
|
NM_000329.3(RPE65):c.1525G>A (p.Asp509Asn)
|
|
|
NM_000329.3(RPE65):c.1532G>A (p.Ser511Asn)
|
rs1645807408
|
|
NM_000329.3(RPE65):c.1534G>A (p.Glu512Lys)
|
|
|
NM_000329.3(RPE65):c.1555G>A (p.Glu519Lys)
|
rs373274945
|
|
NM_000329.3(RPE65):c.1580A>G (p.His527Arg)
|
rs1194458561
|
|
NM_000329.3(RPE65):c.1582G>A (p.Gly528Arg)
|
rs150832066
|
|
NM_000329.3(RPE65):c.158G>A (p.Gly53Glu)
|
|
|
NM_000329.3(RPE65):c.158G>T (p.Gly53Val)
|
rs763536294
|
|
NM_000329.3(RPE65):c.166C>T (p.Pro56Ser)
|
|
|
NM_000329.3(RPE65):c.171T>G (p.Phe57Leu)
|
rs2100831318
|
|
NM_000329.3(RPE65):c.20A>G (p.His7Arg)
|
|
|
NM_000329.3(RPE65):c.215T>C (p.Phe72Ser)
|
rs1553153597
|
|
NM_000329.3(RPE65):c.220G>A (p.Glu74Lys)
|
rs2100831197
|
|
NM_000329.3(RPE65):c.220G>C (p.Glu74Gln)
|
rs2100831197
|
|
NM_000329.3(RPE65):c.221A>G (p.Glu74Gly)
|
rs2100831191
|
|
NM_000329.3(RPE65):c.227A>G (p.His76Arg)
|
rs1571172233
|
|
NM_000329.3(RPE65):c.256A>G (p.Thr86Ala)
|
rs2100828493
|
|
NM_000329.3(RPE65):c.257C>A (p.Thr86Asn)
|
rs1645931073
|
|
NM_000329.3(RPE65):c.260A>G (p.Asp87Gly)
|
rs1645931040
|
|
NM_000329.3(RPE65):c.280A>G (p.Thr94Ala)
|
rs1645930710
|
|
NM_000329.3(RPE65):c.280A>T (p.Thr94Ser)
|
|
|
NM_000329.3(RPE65):c.284A>G (p.Glu95Gly)
|
|
|
NM_000329.3(RPE65):c.293T>C (p.Ile98Thr)
|
rs1645930635
|
|
NM_000329.3(RPE65):c.308T>C (p.Phe103Ser)
|
rs1645930469
|
|
NM_000329.3(RPE65):c.314C>A (p.Thr105Asn)
|
rs1260914084
|
|
NM_000329.3(RPE65):c.317G>A (p.Cys106Tyr)
|
|
|
NM_000329.3(RPE65):c.325C>T (p.Pro109Ser)
|
|
|
NM_000329.3(RPE65):c.350C>T (p.Ser117Phe)
|
rs2100828189
|
|
NM_000329.3(RPE65):c.353+4A>T
|
rs1299116346
|
|
NM_000329.3(RPE65):c.366C>T (p.Tyr122=)
|
rs1479443954
|
|
NM_000329.3(RPE65):c.371G>A (p.Arg124Gln)
|
|
|
NM_000329.3(RPE65):c.37A>C (p.Lys13Gln)
|
|
|
NM_000329.3(RPE65):c.37A>G (p.Lys13Glu)
|
|
|
NM_000329.3(RPE65):c.382G>A (p.Val128Ile)
|
|
|
NM_000329.3(RPE65):c.386C>T (p.Thr129Ile)
|
rs768336015
|
|
NM_000329.3(RPE65):c.395C>T (p.Ala132Val)
|
rs1276965909
|
|
NM_000329.3(RPE65):c.400G>A (p.Val134Ile)
|
|
|
NM_000329.3(RPE65):c.400_402del (p.Val134del)
|
rs1170746947
|
|
NM_000329.3(RPE65):c.406G>C (p.Val136Leu)
|
|
|
NM_000329.3(RPE65):c.415G>A (p.Val139Met)
|
|
|
NM_000329.3(RPE65):c.425A>T (p.Asp142Val)
|
|
|
NM_000329.3(RPE65):c.432C>T (p.Tyr144=)
|
rs56021047
|
|
NM_000329.3(RPE65):c.433G>C (p.Ala145Pro)
|
rs767528365
|
|
NM_000329.3(RPE65):c.434C>T (p.Ala145Val)
|
|
|
NM_000329.3(RPE65):c.455T>C (p.Ile152Thr)
|
|
|
NM_000329.3(RPE65):c.462G>C (p.Lys154Asn)
|
rs2100827532
|
|
NM_000329.3(RPE65):c.485C>T (p.Thr162Ile)
|
rs1360779220
|
|
NM_000329.3(RPE65):c.497T>C (p.Val166Ala)
|
rs2100821973
|
|
NM_000329.3(RPE65):c.535G>A (p.Ala179Thr)
|
rs1645898290
|
|
NM_000329.3(RPE65):c.536C>T (p.Ala179Val)
|
rs1645898265
|
|
NM_000329.3(RPE65):c.53C>G (p.Thr18Ser)
|
rs1645959906
|
|
NM_000329.3(RPE65):c.548T>C (p.Ile183Thr)
|
|
|
NM_000329.3(RPE65):c.557A>T (p.Asp186Val)
|
|
|
NM_000329.3(RPE65):c.55G>A (p.Val19Met)
|
|
|
NM_000329.3(RPE65):c.56T>A (p.Val19Glu)
|
rs1645959875
|
|
NM_000329.3(RPE65):c.571A>G (p.Asn191Asp)
|
rs1189903735
|
|
NM_000329.3(RPE65):c.58G>A (p.Glu20Lys)
|
rs755545288
|
|
NM_000329.3(RPE65):c.597T>A (p.Asn199Lys)
|
|
|
NM_000329.3(RPE65):c.598T>G (p.Phe200Val)
|
rs1406145019
|
|
NM_000329.3(RPE65):c.616A>G (p.Ile206Val)
|
|
|
NM_000329.3(RPE65):c.624G>T (p.Lys208Asn)
|
rs1170839612
|
|
NM_000329.3(RPE65):c.625A>T (p.Ile209Phe)
|
|
|
NM_000329.3(RPE65):c.629C>G (p.Pro210Arg)
|
rs757538512
|
|
NM_000329.3(RPE65):c.638A>C (p.Gln213Pro)
|
rs1224080719
|
|
NM_000329.3(RPE65):c.641C>T (p.Ala214Val)
|
|
|
NM_000329.3(RPE65):c.643+3G>A
|
rs1277690393
|
|
NM_000329.3(RPE65):c.644-5T>A
|
rs2100819923
|
|
NM_000329.3(RPE65):c.648G>A (p.Lys216=)
|
|
|
NM_000329.3(RPE65):c.650A>T (p.Glu217Val)
|
rs777646597
|
|
NM_000329.3(RPE65):c.652G>T (p.Asp218Tyr)
|
|
|
NM_000329.3(RPE65):c.658A>G (p.Ile220Val)
|
|
|
NM_000329.3(RPE65):c.676G>T (p.Val226Phe)
|
|
|
NM_000329.3(RPE65):c.683A>C (p.Gln228Pro)
|
rs886046510
|
|
NM_000329.3(RPE65):c.718G>A (p.Val240Ile)
|
rs192907397
|
|
NM_000329.3(RPE65):c.725+5C>T
|
rs923933222
|
|
NM_000329.3(RPE65):c.725+6T>C
|
rs2100819643
|
|
NM_000329.3(RPE65):c.726-3C>A
|
|
|
NM_000329.3(RPE65):c.72_73insAGGAACTGT (p.Ser24_Pro25insArgAsnCys)
|
rs2100834242
|
|
NM_000329.3(RPE65):c.731G>A (p.Gly244Asp)
|
rs2100819283
|
|
NM_000329.3(RPE65):c.751G>A (p.Val251Ile)
|
rs1325815513
|
|
NM_000329.3(RPE65):c.755T>C (p.Phe252Ser)
|
rs1553153135
|
|
NM_000329.3(RPE65):c.782T>C (p.Leu261Pro)
|
|
|
NM_000329.3(RPE65):c.802T>A (p.Trp268Arg)
|
|
|
NM_000329.3(RPE65):c.818C>A (p.Ala273Asp)
|
|
|
NM_000329.3(RPE65):c.826A>G (p.Met276Val)
|
|
|
NM_000329.3(RPE65):c.82G>T (p.Ala28Ser)
|
|
|
NM_000329.3(RPE65):c.83C>A (p.Ala28Asp)
|
|
|
NM_000329.3(RPE65):c.840G>C (p.Glu280Asp)
|
|
|
NM_000329.3(RPE65):c.851C>T (p.Thr284Ile)
|
|
|
NM_000329.3(RPE65):c.853A>T (p.Met285Leu)
|
|
|
NM_000329.3(RPE65):c.86A>G (p.His29Arg)
|
|
|
NM_000329.3(RPE65):c.871A>G (p.Ile291Val)
|
|
|
NM_000329.3(RPE65):c.872T>C (p.Ile291Thr)
|
|
|
NM_000329.3(RPE65):c.880A>G (p.Lys294Glu)
|
|
|
NM_000329.3(RPE65):c.902A>C (p.Asn301Thr)
|
|
|
NM_000329.3(RPE65):c.922C>T (p.Pro308Ser)
|
|
|
NM_000329.3(RPE65):c.922_924del (p.Pro308del)
|
rs756125943
|
|
NM_000329.3(RPE65):c.946A>G (p.Asn316Asp)
|
rs2100818454
|
|
NM_000329.3(RPE65):c.982C>T (p.Leu328Phe)
|
rs1169420841
|
|
NM_000329.3(RPE65):c.998G>A (p.Gly333Glu)
|
rs1173207597
|
|
NM_000329.3(RPE65):c.999-3C>G
|
rs2100817189
|
|
NM_000341.3(SLC3A1):c.-65C>T
|
rs886056066
|
|
NM_000341.3(SLC3A1):c.-82T>G
|
rs1671316353
|
|
NM_000341.4(SLC3A1):c.100A>G (p.Thr34Ala)
|
|
|
NM_000341.4(SLC3A1):c.1010C>T (p.Pro337Leu)
|
|
|
NM_000341.4(SLC3A1):c.1012-11G>A
|
|
|
NM_000341.4(SLC3A1):c.1012-3A>G
|
|
|
NM_000341.4(SLC3A1):c.1058C>T (p.Thr353Met)
|
|
|
NM_000341.4(SLC3A1):c.1082T>C (p.Val361Ala)
|
|
|
NM_000341.4(SLC3A1):c.1104G>A (p.Met368Ile)
|
|
|
NM_000341.4(SLC3A1):c.1136+5A>G
|
rs1671995727
|
|
NM_000341.4(SLC3A1):c.1157A>C (p.Tyr386Ser)
|
|
|
NM_000341.4(SLC3A1):c.1166G>A (p.Ser389Asn)
|
|
|
NM_000341.4(SLC3A1):c.1200A>G (p.Pro400=)
|
rs886056069
|
|
NM_000341.4(SLC3A1):c.1216G>T (p.Asp406Tyr)
|
|
|
NM_000341.4(SLC3A1):c.1219T>G (p.Phe407Val)
|
|
|
NM_000341.4(SLC3A1):c.1237C>G (p.Leu413Val)
|
|
|
NM_000341.4(SLC3A1):c.124G>C (p.Asp42His)
|
rs1671323312
|
|
NM_000341.4(SLC3A1):c.1253C>A (p.Thr418Asn)
|
|
|
NM_000341.4(SLC3A1):c.1254T>C (p.Thr418=)
|
rs149411180
|
|
NM_000341.4(SLC3A1):c.1258T>C (p.Ser420Pro)
|
|
|
NM_000341.4(SLC3A1):c.1258T>G (p.Ser420Ala)
|
rs370023281
|
|
NM_000341.4(SLC3A1):c.1337G>A (p.Gly446Asp)
|
|
|
NM_000341.4(SLC3A1):c.1364C>G (p.Ser455Trp)
|
|
|
NM_000341.4(SLC3A1):c.1390G>A (p.Val464Met)
|
|
|
NM_000341.4(SLC3A1):c.1394T>C (p.Met465Thr)
|
|
|
NM_000341.4(SLC3A1):c.13A>G (p.Lys5Glu)
|
|
|
NM_000341.4(SLC3A1):c.1400T>A (p.Met467Lys)
|
rs121912691
|
|
NM_000341.4(SLC3A1):c.1403T>G (p.Leu468Arg)
|
rs2104383996
|
|
NM_000341.4(SLC3A1):c.1412C>G (p.Thr471Arg)
|
|
|
NM_000341.4(SLC3A1):c.1435T>C (p.Tyr479His)
|
|
|
NM_000341.4(SLC3A1):c.1494T>C (p.Tyr498=)
|
rs141515737
|
|
NM_000341.4(SLC3A1):c.1495G>T (p.Asp499Tyr)
|
rs886056070
|
|
NM_000341.4(SLC3A1):c.1523C>A (p.Pro508Gln)
|
|
|
NM_000341.4(SLC3A1):c.1594G>C (p.Asp532His)
|
|
|
NM_000341.4(SLC3A1):c.1612G>A (p.Val538Ile)
|
|
|
NM_000341.4(SLC3A1):c.1617+1097T>A
|
rs868118842
|
|
NM_000341.4(SLC3A1):c.1640C>T (p.Ser547Leu)
|
rs368796166
|
|
NM_000341.4(SLC3A1):c.1641G>T (p.Ser547=)
|
rs371537299
|
|
NM_000341.4(SLC3A1):c.166G>A (p.Glu56Lys)
|
rs886056067
|
|
NM_000341.4(SLC3A1):c.1684G>C (p.Glu562Gln)
|
|
|
NM_000341.4(SLC3A1):c.1701G>T (p.Arg567Ser)
|
rs904926333
|
|
NM_000341.4(SLC3A1):c.1702G>A (p.Gly568Ser)
|
|
|
NM_000341.4(SLC3A1):c.1742T>G (p.Val581Gly)
|
rs886056072
|
|
NM_000341.4(SLC3A1):c.1823ATA[1] (p.Asn609del)
|
rs1672827519
|
|
NM_000341.4(SLC3A1):c.1854_1859del (p.Met618_Arg619del)
|
rs886056073
|
|
NM_000341.4(SLC3A1):c.1882G>A (p.Asp628Asn)
|
|
|
NM_000341.4(SLC3A1):c.1934G>C (p.Gly645Ala)
|
rs1672839012
|
|
NM_000341.4(SLC3A1):c.1945G>A (p.Glu649Lys)
|
|
|
NM_000341.4(SLC3A1):c.1954A>G (p.Thr652Ala)
|
|
|
NM_000341.4(SLC3A1):c.2027G>A (p.Ser676Asn)
|
|
|
NM_000341.4(SLC3A1):c.2054G>A (p.Cys685Tyr)
|
|
|
NM_000341.4(SLC3A1):c.24A>C (p.Arg8Ser)
|
rs376615998
|
|
NM_000341.4(SLC3A1):c.256C>T (p.Arg86Trp)
|
|
|
NM_000341.4(SLC3A1):c.290T>C (p.Val97Ala)
|
rs147701210
|
|
NM_000341.4(SLC3A1):c.292C>A (p.Leu98Met)
|
rs750996109
|
|
NM_000341.4(SLC3A1):c.322A>T (p.Ile108Phe)
|
|
|
NM_000341.4(SLC3A1):c.332C>T (p.Ser111Phe)
|
|
|
NM_000341.4(SLC3A1):c.368T>C (p.Met123Thr)
|
|
|
NM_000341.4(SLC3A1):c.418G>A (p.Gly140Arg)
|
|
|
NM_000341.4(SLC3A1):c.438A>T (p.Gln146His)
|
|
|
NM_000341.4(SLC3A1):c.460G>T (p.Ala154Ser)
|
rs766140035
|
|
NM_000341.4(SLC3A1):c.478G>C (p.Val160Leu)
|
rs886056068
|
|
NM_000341.4(SLC3A1):c.478G>T (p.Val160Phe)
|
|
|
NM_000341.4(SLC3A1):c.533A>C (p.Glu178Ala)
|
|
|
NM_000341.4(SLC3A1):c.554C>T (p.Pro185Leu)
|
|
|
NM_000341.4(SLC3A1):c.566C>A (p.Thr189Lys)
|
rs140317484
|
|
NM_000341.4(SLC3A1):c.612T>C (p.Gly204=)
|
|
|
NM_000341.4(SLC3A1):c.628G>A (p.Asp210Asn)
|
|
|
NM_000341.4(SLC3A1):c.673T>G (p.Leu225Val)
|
rs753086483
|
|
NM_000341.4(SLC3A1):c.685C>T (p.Arg229Trp)
|
rs758636942
|
|
NM_000341.4(SLC3A1):c.686G>A (p.Arg229Gln)
|
|
|
NM_000341.4(SLC3A1):c.724T>C (p.Cys242Arg)
|
|
|
NM_000341.4(SLC3A1):c.725G>C (p.Cys242Ser)
|
|
|
NM_000341.4(SLC3A1):c.762C>A (p.Asn254Lys)
|
|
|
NM_000341.4(SLC3A1):c.824T>C (p.Phe275Ser)
|
|
|
NM_000341.4(SLC3A1):c.851A>T (p.Asp284Val)
|
rs933907652
|
|
NM_000341.4(SLC3A1):c.894A>G (p.Glu298=)
|
rs1671960853
|
|
NM_000341.4(SLC3A1):c.8A>G (p.Glu3Gly)
|
|
|
NM_000341.4(SLC3A1):c.902G>A (p.Arg301Gln)
|
|
|
NM_000341.4(SLC3A1):c.919G>C (p.Gly307Arg)
|
|
|
NM_000341.4(SLC3A1):c.929G>A (p.Gly310Asp)
|
rs1671962088
|
|
NM_000350.3(ABCA4):c.1792G>A (p.Val598Met)
|
rs201838557
|
|
NM_000350.3(ABCA4):c.2828G>T (p.Arg943Leu)
|
rs1801581
|
|
NM_000350.3(ABCA4):c.4340A>T (p.Glu1447Val)
|
rs2101034896
|
|
NM_000350.3(ABCA4):c.4353-8T>G
|
|
|
NM_000350.3(ABCA4):c.4849-8C>G
|
rs372461600
|
|
NM_000350.3(ABCA4):c.6379T>C (p.Ser2127Pro)
|
rs2100993895
|
|
NM_000350.3(ABCA4):c.6729+5_6729+19del
|
rs749526785
|
|
NM_000353.3(TAT):c.*163A>C
|
rs2044175750
|
|
NM_000353.3(TAT):c.*170G>A
|
rs2044175692
|
|
NM_000353.3(TAT):c.*208G>A
|
rs886052271
|
|
NM_000353.3(TAT):c.*253G>C
|
rs190776539
|
|
NM_000353.3(TAT):c.*403G>T
|
rs2044173844
|
|
NM_000353.3(TAT):c.*479T>A
|
rs1001474537
|
|
NM_000353.3(TAT):c.*660G>C
|
rs2044172230
|
|
NM_000353.3(TAT):c.*774G>A
|
rs886052267
|
|
NM_000353.3(TAT):c.*991T>C
|
rs2044168812
|
|
NM_000353.3(TAT):c.1100G>A (p.Arg367His)
|
|
|
NM_000353.3(TAT):c.1115T>C (p.Met372Thr)
|
rs2044188199
|
|
NM_000353.3(TAT):c.1125+4A>G
|
|
|
NM_000353.3(TAT):c.1139T>C (p.Met380Thr)
|
|
|
NM_000353.3(TAT):c.1224G>A (p.Thr408=)
|
rs756743947
|
|
NM_000353.3(TAT):c.1363T>C (p.Ter455Gln)
|
rs1018491678
|
|
NM_000353.3(TAT):c.1364A>T (p.Ter455Leu)
|
|
|
NM_000353.3(TAT):c.193G>A (p.Val65Met)
|
|
|
NM_000353.3(TAT):c.205C>T (p.Pro69Ser)
|
|
|
NM_000353.3(TAT):c.301C>G (p.Leu101Val)
|
|
|
NM_000353.3(TAT):c.31A>G (p.Lys11Glu)
|
|
|
NM_000353.3(TAT):c.464T>C (p.Leu155Ser)
|
rs1808464727
|
|
NM_000353.3(TAT):c.558C>T (p.Tyr186=)
|
rs886052274
|
|
NM_000353.3(TAT):c.560A>G (p.Asn187Ser)
|
|
|
NM_000353.3(TAT):c.618T>G (p.Asp206Glu)
|
rs772304832
|
|
NM_000353.3(TAT):c.623A>T (p.Lys208Met)
|
rs2044208144
|
|
NM_000353.3(TAT):c.73G>A (p.Gly25Ser)
|
|
|
NM_000353.3(TAT):c.769G>A (p.Asp257Asn)
|
|
|
NM_000353.3(TAT):c.805G>A (p.Asp269Asn)
|
|
|
NM_000353.3(TAT):c.863_874del (p.Arg288_Trp291del)
|
rs1567590737
|
|
NM_000353.3(TAT):c.943C>T (p.Arg315Cys)
|
|
|
NM_000353.3(TAT):c.944G>A (p.Arg315His)
|
|
|
NM_000353.3(TAT):c.974G>T (p.Gly325Val)
|
|
|
NM_000353.3(TAT):c.997C>A (p.Arg333Ser)
|
rs528193761
|
|
NM_000353.3(TAT):c.997C>T (p.Arg333Cys)
|
|
|
NM_000360.4(TH):c.*102C>A
|
rs1846011369
|
|
NM_000360.4(TH):c.*109G>A
|
rs886048113
|
|
NM_000360.4(TH):c.*135C>A
|
rs1347143870
|
|
NM_000360.4(TH):c.*52C>T
|
rs570989291
|
|
NM_000360.4(TH):c.*9C>A
|
rs762091461
|
|
NM_000360.4(TH):c.1010C>T (p.Pro337Leu)
|
rs2133692289
|
|
NM_000360.4(TH):c.1025G>T (p.Arg342Leu)
|
rs768713710
|
|
NM_000360.4(TH):c.1032C>G (p.Phe344Leu)
|
|
|
NM_000360.4(TH):c.1047+3A>G
|
rs1564917483
|
|
NM_000360.4(TH):c.1047G>A (p.Gln349=)
|
|
|
NM_000360.4(TH):c.1052T>C (p.Ile351Thr)
|
rs1554922725
|
|
NM_000360.4(TH):c.1069G>A (p.Gly357Arg)
|
rs886048114
|
|
NM_000360.4(TH):c.1072G>A (p.Ala358Thr)
|
|
|
NM_000360.4(TH):c.1073C>G (p.Ala358Gly)
|
rs1564917127
|
|
NM_000360.4(TH):c.107G>T (p.Gly36Val)
|
|
|
NM_000360.4(TH):c.1086A>C (p.Glu362Asp)
|
rs1846080018
|
|
NM_000360.4(TH):c.109C>T (p.Arg37Cys)
|
|
|
NM_000360.4(TH):c.1104+3G>A
|
|
|
NM_000360.4(TH):c.1104+4G>A
|
|
|
NM_000360.4(TH):c.1104+4G>T
|
rs747560095
|
|
NM_000360.4(TH):c.1104+6T>C
|
|
|
NM_000360.4(TH):c.1105-5C>G
|
rs535794692
|
|
NM_000360.4(TH):c.1118C>T (p.Thr373Met)
|
rs868563700
|
|
NM_000360.4(TH):c.1119G>A (p.Thr373=)
|
rs143405115
|
|
NM_000360.4(TH):c.1121T>C (p.Val374Ala)
|
rs1846072496
|
|
NM_000360.4(TH):c.1129G>A (p.Gly377Arg)
|
rs745551241
|
|
NM_000360.4(TH):c.1143G>T (p.Gln381His)
|
|
|
NM_000360.4(TH):c.1147G>A (p.Gly383Arg)
|
|
|
NM_000360.4(TH):c.115C>G (p.Gln39Glu)
|
rs886048115
|
|
NM_000360.4(TH):c.1162T>C (p.Tyr388His)
|
rs1846070989
|
|
NM_000360.4(TH):c.1170C>G (p.Ala390=)
|
rs199839852
|
|
NM_000360.4(TH):c.1171G>A (p.Gly391Arg)
|
rs1243080287
|
|
NM_000360.4(TH):c.1171G>C (p.Gly391Arg)
|
rs1243080287
|
|
NM_000360.4(TH):c.1186T>C (p.Tyr396His)
|
|
|
NM_000360.4(TH):c.11C>T (p.Pro4Leu)
|
|
|
NM_000360.4(TH):c.1200+5G>A
|
|
|
NM_000360.4(TH):c.120C>A (p.Ser40Arg)
|
rs766048900
|
|
NM_000360.4(TH):c.120C>T (p.Ser40=)
|
rs766048900
|
|
NM_000360.4(TH):c.1215G>A (p.Glu405=)
|
rs1590165298
|
|
NM_000360.4(TH):c.1219C>G (p.Pro407Ala)
|
|
|
NM_000360.4(TH):c.1227T>C (p.Ile409=)
|
rs546226132
|
|
NM_000360.4(TH):c.1228C>T (p.Arg410Trp)
|
rs575326605
|
|
NM_000360.4(TH):c.1229G>T (p.Arg410Leu)
|
rs367874223
|
|
NM_000360.4(TH):c.1236C>A (p.Phe412Leu)
|
|
|
NM_000360.4(TH):c.1240C>T (p.Pro414Ser)
|
|
|
NM_000360.4(TH):c.1262C>T (p.Pro421Leu)
|
rs752022049
|
|
NM_000360.4(TH):c.1271A>C (p.Asp424Ala)
|
rs1590165136
|
|
NM_000360.4(TH):c.1285T>C (p.Ser429Pro)
|
|
|
NM_000360.4(TH):c.1287A>C (p.Ser429=)
|
rs1590165106
|
|
NM_000360.4(TH):c.1288G>A (p.Val430Ile)
|
rs2133688950
|
|
NM_000360.4(TH):c.1296C>A (p.Phe432Leu)
|
rs760210103
|
|
NM_000360.4(TH):c.12C>A (p.Pro4=)
|
rs147131010
|
|
NM_000360.4(TH):c.1318G>A (p.Ala440Thr)
|
|
|
NM_000360.4(TH):c.1318G>T (p.Ala440Ser)
|
rs374465917
|
|
NM_000360.4(TH):c.1324G>C (p.Asp442His)
|
rs775587609
|
|
NM_000360.4(TH):c.1330C>T (p.Leu444Phe)
|
|
|
NM_000360.4(TH):c.1333A>G (p.Arg445Gly)
|
rs1846054204
|
|
NM_000360.4(TH):c.1335-1G>A
|
rs1554922200
|
|
NM_000360.4(TH):c.133G>A (p.Ala45Thr)
|
rs1846204853
|
|
NM_000360.4(TH):c.1348C>A (p.Arg450Ser)
|
|
|
NM_000360.4(TH):c.1367C>G (p.Ser456Cys)
|
|
|
NM_000360.4(TH):c.1369G>A (p.Val457Met)
|
|
|
NM_000360.4(TH):c.1378G>A (p.Asp460Asn)
|
|
|
NM_000360.4(TH):c.1378G>T (p.Asp460Tyr)
|
|
|
NM_000360.4(TH):c.1380C>A (p.Asp460Glu)
|
rs748364426
|
|
NM_000360.4(TH):c.1382C>G (p.Pro461Arg)
|
rs767635052
|
|
NM_000360.4(TH):c.1390C>G (p.Leu464Val)
|
|
|
NM_000360.4(TH):c.1401C>A (p.Asp467Glu)
|
rs3842724
|
|
NM_000360.4(TH):c.1440G>T (p.Glu480Asp)
|
rs1405705464
|
|
NM_000360.4(TH):c.1442G>A (p.Gly481Asp)
|
rs564949885
|
|
NM_000360.4(TH):c.1442G>T (p.Gly481Val)
|
rs564949885
|
|
NM_000360.4(TH):c.1445T>C (p.Val482Ala)
|
|
|
NM_000360.4(TH):c.1450G>C (p.Asp484His)
|
|
|
NM_000360.4(TH):c.1453G>A (p.Glu485Lys)
|
|
|
NM_000360.4(TH):c.1459G>C (p.Asp487His)
|
rs2133686524
|
|
NM_000360.4(TH):c.145C>T (p.Arg49Trp)
|
rs1312843586
|
|
NM_000360.4(TH):c.1460A>G (p.Asp487Gly)
|
|
|
NM_000360.4(TH):c.1462A>G (p.Thr488Ala)
|
|
|
NM_000360.4(TH):c.146G>A (p.Arg49Gln)
|
|
|
NM_000360.4(TH):c.1490G>T (p.Gly497Val)
|
|
|
NM_000360.4(TH):c.151G>A (p.Ala51Thr)
|
|
|
NM_000360.4(TH):c.152C>T (p.Ala51Val)
|
|
|
NM_000360.4(TH):c.16G>T (p.Ala6Ser)
|
|
|
NM_000360.4(TH):c.200C>T (p.Pro67Leu)
|
rs752445432
|
|
NM_000360.4(TH):c.202C>T (p.Leu68=)
|
rs372393199
|
|
NM_000360.4(TH):c.205G>A (p.Glu69Lys)
|
|
|
NM_000360.4(TH):c.217T>C (p.Phe73Leu)
|
rs577028504
|
|
NM_000360.4(TH):c.222G>C (p.Glu74Asp)
|
|
|
NM_000360.4(TH):c.225G>T (p.Glu75Asp)
|
|
|
NM_000360.4(TH):c.245T>G (p.Leu82Arg)
|
rs990443240
|
|
NM_000360.4(TH):c.259T>C (p.Ser87Pro)
|
rs1846199834
|
|
NM_000360.4(TH):c.25C>T (p.Pro9Ser)
|
|
|
NM_000360.4(TH):c.281C>T (p.Ser94Leu)
|
|
|
NM_000360.4(TH):c.284C>A (p.Ala95Glu)
|
rs769126179
|
|
NM_000360.4(TH):c.284C>G (p.Ala95Gly)
|
rs769126179
|
|
NM_000360.4(TH):c.284C>T (p.Ala95Val)
|
rs769126179
|
|
NM_000360.4(TH):c.286_312+18dup
|
rs1388275002
|
|
NM_000360.4(TH):c.293G>A (p.Arg98Gln)
|
|
|
NM_000360.4(TH):c.293G>C (p.Arg98Pro)
|
rs375214998
|
|
NM_000360.4(TH):c.298G>A (p.Val100Met)
|
rs1353856728
|
|
NM_000360.4(TH):c.298G>C (p.Val100Leu)
|
|
|
NM_000360.4(TH):c.302A>G (p.Lys101Arg)
|
rs1284709971
|
|
NM_000360.4(TH):c.308T>C (p.Phe103Ser)
|
|
|
NM_000360.4(TH):c.312+6C>T
|
rs753670938
|
|
NM_000360.4(TH):c.314C>T (p.Thr105Met)
|
|
|
NM_000360.4(TH):c.31G>A (p.Ala11Thr)
|
|
|
NM_000360.4(TH):c.32C>A (p.Ala11Asp)
|
rs933425557
|
|
NM_000360.4(TH):c.32C>G (p.Ala11Gly)
|
rs933425557
|
|
NM_000360.4(TH):c.337C>G (p.Leu113Val)
|
rs1846169186
|
|
NM_000360.4(TH):c.344C>T (p.Thr115Ile)
|
rs756013579
|
|
NM_000360.4(TH):c.347G>A (p.Arg116Gln)
|
|
|
NM_000360.4(TH):c.347G>C (p.Arg116Pro)
|
|
|
NM_000360.4(TH):c.352G>T (p.Ala118Ser)
|
|
|
NM_000360.4(TH):c.359G>A (p.Arg120Lys)
|
|
|
NM_000360.4(TH):c.385G>A (p.Glu129Lys)
|
rs1178215140
|
|
NM_000360.4(TH):c.394G>C (p.Val132Leu)
|
rs751702426
|
|
NM_000360.4(TH):c.397C>T (p.Arg133Cys)
|
|
|
NM_000360.4(TH):c.398G>T (p.Arg133Leu)
|
rs376881948
|
|
NM_000360.4(TH):c.401_412del (p.Leu134_Arg137del)
|
rs1846165944
|
|
NM_000360.4(TH):c.403G>A (p.Glu135Lys)
|
|
|
NM_000360.4(TH):c.409C>T (p.Arg137Cys)
|
|
|
NM_000360.4(TH):c.413G>A (p.Arg138Gln)
|
|
|
NM_000360.4(TH):c.418G>A (p.Asp140Asn)
|
|
|
NM_000360.4(TH):c.424G>T (p.Ala142Ser)
|
rs770167236
|
|
NM_000360.4(TH):c.42C>G (p.Phe14Leu)
|
|
|
NM_000360.4(TH):c.443T>C (p.Val148Ala)
|
rs942789428
|
|
NM_000360.4(TH):c.446G>A (p.Arg149His)
|
|
|
NM_000360.4(TH):c.44G>A (p.Arg15His)
|
rs199648386
|
|
NM_000360.4(TH):c.44G>T (p.Arg15Leu)
|
|
|
NM_000360.4(TH):c.463G>A (p.Val155Met)
|
|
|
NM_000360.4(TH):c.467G>A (p.Arg156His)
|
|
|
NM_000360.4(TH):c.46A>G (p.Arg16Gly)
|
|
|
NM_000360.4(TH):c.473C>T (p.Pro158Leu)
|
|
|
NM_000360.4(TH):c.475G>A (p.Ala159Thr)
|
|
|
NM_000360.4(TH):c.476C>T (p.Ala159Val)
|
|
|
NM_000360.4(TH):c.479G>A (p.Gly160Glu)
|
rs777823354
|
|
NM_000360.4(TH):c.488-17C>G
|
rs918432885
|
|
NM_000360.4(TH):c.503G>A (p.Arg168Lys)
|
|
|
NM_000360.4(TH):c.50C>A (p.Ala17Asp)
|
rs2133704171
|
|
NM_000360.4(TH):c.549C>G (p.Phe183Leu)
|
|
|
NM_000360.4(TH):c.550G>C (p.Asp184His)
|
|
|
NM_000360.4(TH):c.575C>T (p.Pro192Leu)
|
rs760346235
|
|
NM_000360.4(TH):c.576+6T>C
|
|
|
NM_000360.4(TH):c.577-22_577-5del
|
|
|
NM_000360.4(TH):c.577-3C>T
|
|
|
NM_000360.4(TH):c.577G>A (p.Gly193Ser)
|
rs2133695838
|
|
NM_000360.4(TH):c.58G>A (p.Glu20Lys)
|
rs2133704152
|
|
NM_000360.4(TH):c.599G>C (p.Arg200Pro)
|
rs201224335
|
|
NM_000360.4(TH):c.617T>C (p.Ile206Thr)
|
|
|
NM_000360.4(TH):c.625_636del (p.Ile209_Gln212del)
|
rs1554923325
|
|
NM_000360.4(TH):c.628G>A (p.Ala210Thr)
|
rs1260455415
|
|
NM_000360.4(TH):c.628G>T (p.Ala210Ser)
|
rs1260455415
|
|
NM_000360.4(TH):c.633C>A (p.Phe211Leu)
|
|
|
NM_000360.4(TH):c.635A>G (p.Gln212Arg)
|
rs1002471580
|
|
NM_000360.4(TH):c.645C>A (p.His215Gln)
|
rs768037080
|
|
NM_000360.4(TH):c.647G>A (p.Gly216Asp)
|
|
|
NM_000360.4(TH):c.652C>T (p.Pro218Ser)
|
|
|
NM_000360.4(TH):c.661C>T (p.Arg221Cys)
|
|
|
NM_000360.4(TH):c.662G>T (p.Arg221Leu)
|
rs150559011
|
|
NM_000360.4(TH):c.680A>C (p.Glu227Ala)
|
rs929509309
|
|
NM_000360.4(TH):c.685A>C (p.Ile229Leu)
|
rs778613708
|
|
NM_000360.4(TH):c.702G>T (p.Glu234Asp)
|
|
|
NM_000360.4(TH):c.713C>G (p.Thr238Arg)
|
|
|
NM_000360.4(TH):c.713C>T (p.Thr238Met)
|
rs757607038
|
|
NM_000360.4(TH):c.722G>A (p.Gly241Asp)
|
|
|
NM_000360.4(TH):c.724C>T (p.Leu242Phe)
|
rs1457094087
|
|
NM_000360.4(TH):c.727T>C (p.Tyr243His)
|
rs1196330512
|
|
NM_000360.4(TH):c.730G>C (p.Ala244Pro)
|
rs759968927
|
|
NM_000360.4(TH):c.730G>T (p.Ala244Ser)
|
rs759968927
|
|
NM_000360.4(TH):c.739G>A (p.Ala247Thr)
|
|
|
NM_000360.4(TH):c.755T>C (p.Leu252Pro)
|
rs978552119
|
|
NM_000360.4(TH):c.765T>G (p.Phe255Leu)
|
|
|
NM_000360.4(TH):c.767C>T (p.Ala256Val)
|
|
|
NM_000360.4(TH):c.778C>G (p.Arg260Gly)
|
rs376462928
|
|
NM_000360.4(TH):c.787G>A (p.Gly263Ser)
|
|
|
NM_000360.4(TH):c.799G>C (p.Asp267His)
|
rs1057524283
|
|
NM_000360.4(TH):c.818A>C (p.Glu273Ala)
|
rs1846110049
|
|
NM_000360.4(TH):c.81G>T (p.Glu27Asp)
|
rs139742336
|
|
NM_000360.4(TH):c.821A>G (p.Asp274Gly)
|
|
|
NM_000360.4(TH):c.824T>G (p.Val275Gly)
|
rs2133693418
|
|
NM_000360.4(TH):c.829C>A (p.Arg277Ser)
|
rs2133693392
|
|
NM_000360.4(TH):c.82G>C (p.Ala28Pro)
|
|
|
NM_000360.4(TH):c.841+3G>A
|
rs528887823
|
|
NM_000360.4(TH):c.841+5G>A
|
rs1846109018
|
|
NM_000360.4(TH):c.842-10C>A
|
rs1397228949
|
|
NM_000360.4(TH):c.842-3C>A
|
|
|
NM_000360.4(TH):c.862C>T (p.Arg288Trp)
|
|
|
NM_000360.4(TH):c.90+10C>T
|
rs1554924321
|
|
NM_000360.4(TH):c.90+13G>T
|
rs77140743
|
|
NM_000360.4(TH):c.90+1G>T
|
rs1554924329
|
|
NM_000360.4(TH):c.90+2_90+3dup
|
rs1554924328
|
|
NM_000360.4(TH):c.90+7dup
|
rs780485650
|
|
NM_000360.4(TH):c.901G>T (p.Ala301Ser)
|
|
|
NM_000360.4(TH):c.91-20_91-10del
|
rs2133700266
|
|
NM_000360.4(TH):c.91-819G>A
|
rs1330998143
|
|
NM_000360.4(TH):c.91-819G>T
|
rs1330998143
|
|
NM_000360.4(TH):c.91-838C>T
|
rs1195830888
|
|
NM_000360.4(TH):c.91-847C>T
|
|
|
NM_000360.4(TH):c.91-851G>A
|
rs1186732715
|
|
NM_000360.4(TH):c.91-856C>A
|
|
|
NM_000360.4(TH):c.91-871C>T
|
rs1313952475
|
|
NM_000360.4(TH):c.91-875G>A
|
|
|
NM_000360.4(TH):c.91-886C>T
|
|
|
NM_000360.4(TH):c.91-893C>T
|
|
|
NM_000360.4(TH):c.91-896_91-885del
|
rs1554924102
|
|
NM_000360.4(TH):c.91-900G>A
|
rs1554924111
|
|
NM_000360.4(TH):c.91-901A>C
|
rs1554924114
|
|
NM_000360.4(TH):c.917G>A (p.Arg306His)
|
rs28934580
|
|
NM_000360.4(TH):c.920T>C (p.Val307Ala)
|
|
|
NM_000360.4(TH):c.950C>A (p.Ala317Glu)
|
|
|
NM_000360.4(TH):c.951G>A (p.Ala317=)
|
rs1590167106
|
|
NM_000360.4(TH):c.970C>T (p.Pro324Ser)
|
|
|
NM_000360.4(TH):c.977+8C>T
|
rs12419447
|
|
NM_000360.4(TH):c.978-6G>A
|
rs75487597
|
|
NM_000360.4(TH):c.97C>T (p.Arg33Trp)
|
|
|
NM_000372.5(TYR):c.1202T>C (p.Leu401Pro)
|
rs2135324201
|
|
NM_000372.5(TYR):c.1234C>G (p.Pro412Ala)
|
rs797046081
|
|
NM_000372.5(TYR):c.157G>C (p.Gly53Arg)
|
rs1591133731
|
|
NM_000372.5(TYR):c.164G>C (p.Cys55Ser)
|
rs28940879
|
|
NM_000387.5(SLC25A20):c.-116C>A
|
rs566770224
|
|
NM_000387.6(SLC25A20):c.*235T>C
|
rs1360442332
|
|
NM_000387.6(SLC25A20):c.*371T>G
|
rs2083587320
|
|
NM_000387.6(SLC25A20):c.*577del
|
rs533476473
|
|
NM_000387.6(SLC25A20):c.*577dup
|
rs533476473
|
|
NM_000387.6(SLC25A20):c.*710G>C
|
rs1243166318
|
|
NM_000387.6(SLC25A20):c.-71G>C
|
rs886058660
|
|
NM_000387.6(SLC25A20):c.105+7_105+10dup
|
rs775942451
|
|
NM_000387.6(SLC25A20):c.131G>A (p.Ser44Asn)
|
|
|
NM_000387.6(SLC25A20):c.139_147del (p.Gly47_Pro49del)
|
|
|
NM_000387.6(SLC25A20):c.167T>C (p.Phe56Ser)
|
rs1216285427
|
|
NM_000387.6(SLC25A20):c.198+4G>A
|
|
|
NM_000387.6(SLC25A20):c.198+9A>G
|
rs896736499
|
|
NM_000387.6(SLC25A20):c.198G>A (p.Glu66=)
|
|
|
NM_000387.6(SLC25A20):c.206C>T (p.Thr69Met)
|
|
|
NM_000387.6(SLC25A20):c.254T>A (p.Met85Lys)
|
|
|
NM_000387.6(SLC25A20):c.260C>T (p.Ala87Val)
|
|
|
NM_000387.6(SLC25A20):c.28C>T (p.Pro10Ser)
|
rs753219087
|
|
NM_000387.6(SLC25A20):c.29C>T (p.Pro10Leu)
|
rs376837831
|
|
NM_000387.6(SLC25A20):c.364G>A (p.Val122Ile)
|
rs150419695
|
|
NM_000387.6(SLC25A20):c.364G>C (p.Val122Leu)
|
rs150419695
|
|
NM_000387.6(SLC25A20):c.418-3C>A
|
rs200732067
|
|
NM_000387.6(SLC25A20):c.424G>A (p.Ala142Thr)
|
rs2083636632
|
|
NM_000387.6(SLC25A20):c.449C>T (p.Thr150Ile)
|
|
|
NM_000387.6(SLC25A20):c.47C>T (p.Ala16Val)
|
rs2083928547
|
|
NM_000387.6(SLC25A20):c.487T>C (p.Phe163Leu)
|
|
|
NM_000387.6(SLC25A20):c.497G>A (p.Arg166Gln)
|
|
|
NM_000387.6(SLC25A20):c.508A>C (p.Lys170Gln)
|
rs1030639285
|
|
NM_000387.6(SLC25A20):c.514A>G (p.Thr172Ala)
|
|
|
NM_000387.6(SLC25A20):c.532C>G (p.Arg178Gly)
|
rs778220325
|
|
NM_000387.6(SLC25A20):c.542C>A (p.Pro181Gln)
|
|
|
NM_000387.6(SLC25A20):c.611T>C (p.Val204Ala)
|
|
|
NM_000387.6(SLC25A20):c.619C>T (p.Leu207Phe)
|
|
|
NM_000387.6(SLC25A20):c.632G>A (p.Arg211Gln)
|
|
|
NM_000387.6(SLC25A20):c.647G>T (p.Gly216Val)
|
|
|
NM_000387.6(SLC25A20):c.70C>G (p.Leu24Val)
|
rs2106672482
|
|
NM_000387.6(SLC25A20):c.715A>C (p.Thr239Pro)
|
rs143961330
|
|
NM_000387.6(SLC25A20):c.715A>G (p.Thr239Ala)
|
|
|
NM_000387.6(SLC25A20):c.721C>A (p.Pro241Thr)
|
rs2083598994
|
|
NM_000387.6(SLC25A20):c.722C>T (p.Pro241Leu)
|
rs2083598976
|
|
NM_000387.6(SLC25A20):c.73G>A (p.Val25Met)
|
|
|
NM_000387.6(SLC25A20):c.763_764delinsAT (p.Glu255Met)
|
rs2106637527
|
|
NM_000387.6(SLC25A20):c.772C>T (p.Arg258Trp)
|
|
|
NM_000387.6(SLC25A20):c.779_781del (p.Glu260del)
|
rs754871147
|
|
NM_000387.6(SLC25A20):c.803G>C (p.Gly268Ala)
|
|
|
NM_000387.6(SLC25A20):c.812C>T (p.Ala271Val)
|
|
|
NM_000387.6(SLC25A20):c.82G>T (p.Gly28Cys)
|
rs747335514
|
|
NM_000387.6(SLC25A20):c.832C>T (p.Pro278Ser)
|
|
|
NM_000387.6(SLC25A20):c.83G>A (p.Gly28Asp)
|
rs2106672462
|
|
NM_000387.6(SLC25A20):c.854T>G (p.Leu285Arg)
|
|
|
NM_000387.6(SLC25A20):c.868G>A (p.Ala290Thr)
|
|
|
NM_000387.6(SLC25A20):c.881T>C (p.Leu294Pro)
|
|
|
NM_000387.6(SLC25A20):c.88C>T (p.Pro30Ser)
|
rs780569251
|
|
NM_000387.6(SLC25A20):c.895C>G (p.Pro299Ala)
|
|
|
NM_000387.6(SLC25A20):c.899A>G (p.Asn300Ser)
|
|
|
NM_000411.8(HLCS):c.-393+2558C>T
|
|
|
NM_000429.3(MAT1A):c.163G>A (p.Ala55Thr)
|
|
|
NM_000440.3(PDE6A):c.*1251C>A
|
rs1760060829
|
|
NM_000440.3(PDE6A):c.*126T>C
|
rs886060216
|
|
NM_000440.3(PDE6A):c.*1304G>A
|
rs886060211
|
|
NM_000440.3(PDE6A):c.*1359G>T
|
rs551130416
|
|
NM_000440.3(PDE6A):c.*2029G>A
|
rs1760029760
|
|
NM_000440.3(PDE6A):c.*2068G>A
|
rs251458
|
|
NM_000440.3(PDE6A):c.*2582T>C
|
rs1760007422
|
|
NM_000440.3(PDE6A):c.*2615C>T
|
rs965453260
|
|
NM_000440.3(PDE6A):c.*2620C>A
|
rs188603235
|
|
NM_000440.3(PDE6A):c.*2626C>G
|
rs367679417
|
|
NM_000440.3(PDE6A):c.*38T>C
|
rs1760108860
|
|
NM_000440.3(PDE6A):c.*714G>C
|
rs1398735404
|
|
NM_000440.3(PDE6A):c.*932T>C
|
rs990393994
|
|
NM_000440.3(PDE6A):c.*955C>T
|
rs1760069963
|
|
NM_000440.3(PDE6A):c.*956G>A
|
rs185298177
|
|
NM_000440.3(PDE6A):c.1130A>G (p.Glu377Gly)
|
rs1752887985
|
|
NM_000440.3(PDE6A):c.127G>A (p.Ala43Thr)
|
|
|
NM_000440.3(PDE6A):c.159C>A (p.Ser53Arg)
|
rs762456548
|
|
NM_000440.3(PDE6A):c.1689C>A (p.His563Gln)
|
rs776918069
|
|
NM_000440.3(PDE6A):c.1702G>A (p.Gly568Arg)
|
rs2113582384
|
|
NM_000440.3(PDE6A):c.1776G>A (p.Met592Ile)
|
rs1752302695
|
|
NM_000440.3(PDE6A):c.1965T>C (p.His655=)
|
rs753303277
|
|
NM_000440.3(PDE6A):c.2098T>C (p.Tyr700His)
|
rs1581164903
|
|
NM_000440.3(PDE6A):c.2135+15G>C
|
rs372808484
|
|
NM_000440.3(PDE6A):c.2135+5G>A
|
rs2113549054
|
|
NM_000440.3(PDE6A):c.2322C>T (p.Val774=)
|
rs766767235
|
|
NM_000440.3(PDE6A):c.2417G>A (p.Arg806His)
|
rs145718445
|
|
NM_000440.3(PDE6A):c.2506+7G>A
|
rs1382186195
|
|
NM_000440.3(PDE6A):c.2512G>A (p.Ala838Thr)
|
rs778365507
|
|
NM_000440.3(PDE6A):c.253C>G (p.Leu85Val)
|
rs778014812
|
|
NM_000440.3(PDE6A):c.300G>A (p.Arg100=)
|
rs886060217
|
|
NM_000440.3(PDE6A):c.367G>A (p.Asp123Asn)
|
rs147010346
|
|
NM_000440.3(PDE6A):c.578T>C (p.Met193Thr)
|
rs1195726721
|
|
NM_000440.3(PDE6A):c.672G>T (p.Val224=)
|
rs1219967457
|
|
NM_000440.3(PDE6A):c.944T>G (p.Phe315Cys)
|
rs762090796
|
|
NM_000481.4(AMT):c.*621A>G
|
rs2049007839
|
|
NM_000481.4(AMT):c.1001G>T (p.Ser334Ile)
|
rs2107929053
|
|
NM_000481.4(AMT):c.1030A>T (p.Ile344Phe)
|
rs2049024917
|
|
NM_000481.4(AMT):c.1033+1G>C
|
rs2107928969
|
|
NM_000481.4(AMT):c.1033+2dup
|
rs976598152
|
|
NM_000481.4(AMT):c.1033+5G>A
|
|
|
NM_000481.4(AMT):c.1034-1G>C
|
rs1575302765
|
|
NM_000481.4(AMT):c.1039G>C (p.Val347Leu)
|
|
|
NM_000481.4(AMT):c.1040T>C (p.Val347Ala)
|
|
|
NM_000481.4(AMT):c.1068GAA[2] (p.Lys358del)
|
rs768940499
|
|
NM_000481.4(AMT):c.1073A>C (p.Lys358Thr)
|
|
|
NM_000481.4(AMT):c.1076A>C (p.Asn359Thr)
|
rs2107928652
|
|
NM_000481.4(AMT):c.1087G>C (p.Gly363Arg)
|
rs1167886830
|
|
NM_000481.4(AMT):c.10G>C (p.Ala4Pro)
|
rs753829515
|
|
NM_000481.4(AMT):c.1108A>G (p.Ser370Gly)
|
|
|
NM_000481.4(AMT):c.1111C>T (p.Arg371Cys)
|
rs1200405341
|
|
NM_000481.4(AMT):c.1112G>A (p.Arg371His)
|
rs147006017
|
|
NM_000481.4(AMT):c.1124T>C (p.Met375Thr)
|
|
|
NM_000481.4(AMT):c.1138G>A (p.Val380Met)
|
rs1306590343
|
|
NM_000481.4(AMT):c.1141C>A (p.Arg381=)
|
rs775324601
|
|
NM_000481.4(AMT):c.1142G>A (p.Arg381Gln)
|
|
|
NM_000481.4(AMT):c.1150CAG[1] (p.Gln385del)
|
rs747544827
|
|
NM_000481.4(AMT):c.1153C>T (p.Gln385Ter)
|
rs1553638206
|
|
NM_000481.4(AMT):c.1155G>C (p.Gln385His)
|
|
|
NM_000481.4(AMT):c.1162G>A (p.Val388Ile)
|
|
|
NM_000481.4(AMT):c.116A>G (p.Tyr39Cys)
|
|
|
NM_000481.4(AMT):c.1181T>C (p.Phe394Ser)
|
|
|
NM_000481.4(AMT):c.1187C>T (p.Pro396Leu)
|
|
|
NM_000481.4(AMT):c.1190C>A (p.Thr397Lys)
|
rs886058683
|
|
NM_000481.4(AMT):c.1198T>C (p.Tyr400His)
|
|
|
NM_000481.4(AMT):c.1199A>C (p.Tyr400Ser)
|
|
|
NM_000481.4(AMT):c.1199A>G (p.Tyr400Cys)
|
rs201548428
|
|
NM_000481.4(AMT):c.1199_1202delinsTAT (p.Tyr400fs)
|
rs1553638191
|
|
NM_000481.4(AMT):c.1204C>T (p.Leu402Phe)
|
|
|
NM_000481.4(AMT):c.1204_1206del (p.Leu402del)
|
rs1559527384
|
|
NM_000481.4(AMT):c.1209del (p.Lys403fs)
|
rs1553638189
|
|
NM_000481.4(AMT):c.130G>A (p.Ala44Thr)
|
rs2049118414
|
|
NM_000481.4(AMT):c.136G>A (p.Gly46Ser)
|
|
|
NM_000481.4(AMT):c.13G>A (p.Val5Ile)
|
|
|
NM_000481.4(AMT):c.13G>C (p.Val5Leu)
|
|
|
NM_000481.4(AMT):c.148G>T (p.Val50Leu)
|
rs148917929
|
|
NM_000481.4(AMT):c.155T>C (p.Phe52Ser)
|
rs2107937639
|
|
NM_000481.4(AMT):c.155T>G (p.Phe52Cys)
|
rs2107937639
|
|
NM_000481.4(AMT):c.175G>A (p.Val59Met)
|
|
|
NM_000481.4(AMT):c.184C>T (p.Arg62Trp)
|
|
|
NM_000481.4(AMT):c.185G>A (p.Arg62Gln)
|
|
|
NM_000481.4(AMT):c.188A>G (p.Asp63Gly)
|
rs2107937495
|
|
NM_000481.4(AMT):c.189C>G (p.Asp63Glu)
|
|
|
NM_000481.4(AMT):c.196A>G (p.Thr66Ala)
|
rs2049115954
|
|
NM_000481.4(AMT):c.235T>A (p.Phe79Ile)
|
|
|
NM_000481.4(AMT):c.241G>A (p.Val81Met)
|
|
|
NM_000481.4(AMT):c.242T>C (p.Val81Ala)
|
|
|
NM_000481.4(AMT):c.258+6C>G
|
rs1451725049
|
|
NM_000481.4(AMT):c.259-13A>G
|
|
|
NM_000481.4(AMT):c.269_270delinsCC (p.Leu90Pro)
|
rs2107936070
|
|
NM_000481.4(AMT):c.271_273del (p.Gly91del)
|
rs2107936054
|
|
NM_000481.4(AMT):c.28C>G (p.Arg10Gly)
|
|
|
NM_000481.4(AMT):c.29G>C (p.Arg10Pro)
|
|
|
NM_000481.4(AMT):c.311G>A (p.Gly104Glu)
|
rs753221440
|
|
NM_000481.4(AMT):c.335A>G (p.Asn112Ser)
|
rs2107935915
|
|
NM_000481.4(AMT):c.339+3G>A
|
rs752570901
|
|
NM_000481.4(AMT):c.339+3G>T
|
rs752570901
|
|
NM_000481.4(AMT):c.341G>A (p.Gly114Glu)
|
rs1575306589
|
|
NM_000481.4(AMT):c.359C>G (p.Thr120Ser)
|
|
|
NM_000481.4(AMT):c.359C>T (p.Thr120Ile)
|
rs766350668
|
|
NM_000481.4(AMT):c.35G>A (p.Gly12Asp)
|
|
|
NM_000481.4(AMT):c.364G>A (p.Glu122Lys)
|
|
|
NM_000481.4(AMT):c.371G>A (p.Gly124Glu)
|
rs1575306496
|
|
NM_000481.4(AMT):c.40C>T (p.Arg14Cys)
|
|
|
NM_000481.4(AMT):c.415C>G (p.His139Asp)
|
|
|
NM_000481.4(AMT):c.41G>A (p.Arg14His)
|
|
|
NM_000481.4(AMT):c.448G>A (p.Glu150Lys)
|
|
|
NM_000481.4(AMT):c.467T>C (p.Met156Thr)
|
rs2107933555
|
|
NM_000481.4(AMT):c.471+12_471+13del
|
rs370772505
|
|
NM_000481.4(AMT):c.512G>A (p.Gly171Asp)
|
|
|
NM_000481.4(AMT):c.513C>T (p.Gly171=)
|
rs555045517
|
|
NM_000481.4(AMT):c.515T>C (p.Leu172Pro)
|
rs1366977126
|
|
NM_000481.4(AMT):c.526G>A (p.Asp176Asn)
|
|
|
NM_000481.4(AMT):c.533C>T (p.Ala178Val)
|
|
|
NM_000481.4(AMT):c.550+5G>A
|
|
|
NM_000481.4(AMT):c.551-18C>G
|
|
|
NM_000481.4(AMT):c.562G>A (p.Ala188Thr)
|
|
|
NM_000481.4(AMT):c.578C>G (p.Ala193Gly)
|
|
|
NM_000481.4(AMT):c.57_59dup (p.Pro20dup)
|
rs386833686
|
|
NM_000481.4(AMT):c.580G>A (p.Gly194Ser)
|
|
|
NM_000481.4(AMT):c.589G>A (p.Asp197Asn)
|
rs200550585
|
|
NM_000481.4(AMT):c.614T>G (p.Met205Arg)
|
rs2107932197
|
|
NM_000481.4(AMT):c.625G>A (p.Val209Met)
|
rs370287514
|
|
NM_000481.4(AMT):c.62C>T (p.Ala21Val)
|
|
|
NM_000481.4(AMT):c.643G>A (p.Val215Met)
|
rs1030915796
|
|
NM_000481.4(AMT):c.643G>C (p.Val215Leu)
|
rs1030915796
|
|
NM_000481.4(AMT):c.655C>T (p.Arg219Cys)
|
|
|
NM_000481.4(AMT):c.677C>T (p.Thr226Ile)
|
rs2107932030
|
|
NM_000481.4(AMT):c.67T>C (p.Cys23Arg)
|
|
|
NM_000481.4(AMT):c.697-14G>A
|
|
|
NM_000481.4(AMT):c.705_710dup (p.Pro236_Val237dup)
|
rs1553638433
|
|
NM_000481.4(AMT):c.70C>G (p.Arg24Gly)
|
|
|
NM_000481.4(AMT):c.70C>T (p.Arg24Cys)
|
rs371656220
|
|
NM_000481.4(AMT):c.719C>T (p.Ala240Val)
|
|
|
NM_000481.4(AMT):c.721G>A (p.Val241Ile)
|
rs1004875097
|
|
NM_000481.4(AMT):c.727C>A (p.Leu243Met)
|
rs1575304886
|
|
NM_000481.4(AMT):c.73C>T (p.Pro25Ser)
|
rs751869343
|
|
NM_000481.4(AMT):c.754G>A (p.Glu252Lys)
|
|
|
NM_000481.4(AMT):c.77T>A (p.Leu26His)
|
|
|
NM_000481.4(AMT):c.797T>C (p.Leu266Pro)
|
rs2049051428
|
|
NM_000481.4(AMT):c.805G>A (p.Gly269Ser)
|
rs2049051018
|
|
NM_000481.4(AMT):c.806G>A (p.Gly269Asp)
|
rs121964981
|
|
NM_000481.4(AMT):c.822_836dup (p.Glu279_His280insAsnAspIleAspGlu)
|
|
|
NM_000481.4(AMT):c.830T>A (p.Ile277Asn)
|
rs1052014497
|
|
NM_000481.4(AMT):c.841A>G (p.Thr281Ala)
|
|
|
NM_000481.4(AMT):c.850G>A (p.Val284Met)
|
rs2107931384
|
|
NM_000481.4(AMT):c.856G>A (p.Gly286Ser)
|
rs778159864
|
|
NM_000481.4(AMT):c.857G>A (p.Gly286Asp)
|
rs2049049669
|
|
NM_000481.4(AMT):c.86C>T (p.Ala29Val)
|
rs2049122995
|
|
NM_000481.4(AMT):c.877+4A>T
|
rs2049049249
|
|
NM_000481.4(AMT):c.878G>A (p.Gly293Glu)
|
|
|
NM_000481.4(AMT):c.892G>A (p.Ala298Thr)
|
rs2049028177
|
|
NM_000481.4(AMT):c.90+4G>A
|
rs2107938113
|
|
NM_000481.4(AMT):c.90+5G>C
|
|
|
NM_000481.4(AMT):c.91-17A>G
|
rs2107937879
|
|
NM_000481.4(AMT):c.911G>A (p.Gly304Glu)
|
rs2049027770
|
|
NM_000481.4(AMT):c.923T>C (p.Ile308Thr)
|
|
|
NM_000481.4(AMT):c.928C>T (p.Pro310Ser)
|
|
|
NM_000481.4(AMT):c.946G>T (p.Val316Leu)
|
|
|
NM_000481.4(AMT):c.950A>G (p.Gln317Arg)
|
rs146114174
|
|
NM_000481.4(AMT):c.959G>T (p.Arg320Leu)
|
rs121964985
|
|
NM_000481.4(AMT):c.95T>C (p.Val32Ala)
|
|
|
NM_000481.4(AMT):c.961G>C (p.Val321Leu)
|
|
|
NM_000481.4(AMT):c.970_972del (p.Met324del)
|
rs386833691
|
|
NM_000485.3(APRT):c.401-15C>T
|
rs1449537193
|
|
NM_000485.3(APRT):c.433C>A (p.Arg145Ser)
|
rs550667813
|
|
NM_000512.5(GALNS):c.*212C>A
|
rs117754023
|
|
NM_000531.5(OTC):c.-116C>T
|
rs1555971006
|
|
NM_000531.6(OTC):c.1005G>A (p.Met335Ile)
|
rs281865553
|
|
NM_000531.6(OTC):c.1009G>T (p.Val337Phe)
|
rs72558487
|
|
NM_000531.6(OTC):c.1020_1028del (p.Leu341_Thr343del)
|
rs2068592611
|
|
NM_000531.6(OTC):c.1025T>C (p.Leu342Pro)
|
rs2068592679
|
|
NM_000531.6(OTC):c.1031A>T (p.Asp344Val)
|
|
|
NM_000531.6(OTC):c.1033T>C (p.Tyr345His)
|
rs66469337
|
|
NM_000531.6(OTC):c.1040C>G (p.Pro347Arg)
|
|
|
NM_000531.6(OTC):c.116G>A (p.Gly39Asp)
|
rs1602014500
|
|
NM_000531.6(OTC):c.125T>A (p.Leu42His)
|
|
|
NM_000531.6(OTC):c.125_126delinsAC (p.Leu42His)
|
|
|
NM_000531.6(OTC):c.139A>C (p.Asn47His)
|
|
|
NM_000531.6(OTC):c.145A>C (p.Thr49Pro)
|
rs72554316
|
|
NM_000531.6(OTC):c.145A>T (p.Thr49Ser)
|
|
|
NM_000531.6(OTC):c.146C>T (p.Thr49Ile)
|
|
|
NM_000531.6(OTC):c.188T>C (p.Leu63Pro)
|
rs72554324
|
|
NM_000531.6(OTC):c.216+10A>G
|
rs1473033144
|
|
NM_000531.6(OTC):c.216+5G>A
|
|
|
NM_000531.6(OTC):c.241T>C (p.Ser81Pro)
|
rs2147324956
|
|
NM_000531.6(OTC):c.242C>T (p.Ser81Phe)
|
rs2068314927
|
|
NM_000531.6(OTC):c.264AAG[1] (p.Arg89del)
|
rs2068315148
|
|
NM_000531.6(OTC):c.292G>A (p.Glu98Lys)
|
rs72554347
|
|
NM_000531.6(OTC):c.298+2dup
|
rs1555972540
|
|
NM_000531.6(OTC):c.298+3_298+6del
|
rs2068315608
|
|
NM_000531.6(OTC):c.307C>T (p.Leu103Phe)
|
rs779154479
|
|
NM_000531.6(OTC):c.311T>A (p.Leu104Gln)
|
|
|
NM_000531.6(OTC):c.323C>G (p.Pro108Arg)
|
|
|
NM_000531.6(OTC):c.32A>G (p.Asn11Ser)
|
|
|
NM_000531.6(OTC):c.344A>G (p.Asp115Gly)
|
|
|
NM_000531.6(OTC):c.369T>A (p.Ser123Arg)
|
|
|
NM_000531.6(OTC):c.370C>T (p.Leu124Phe)
|
|
|
NM_000531.6(OTC):c.386+9A>G
|
|
|
NM_000531.6(OTC):c.387T>C (p.Arg129=)
|
|
|
NM_000531.6(OTC):c.425T>G (p.Val142Gly)
|
rs72556261
|
|
NM_000531.6(OTC):c.433C>A (p.Gln145Lys)
|
rs753584565
|
|
NM_000531.6(OTC):c.439G>C (p.Asp147His)
|
|
|
NM_000531.6(OTC):c.452T>C (p.Leu151Pro)
|
rs72556265
|
|
NM_000531.6(OTC):c.452T>G (p.Leu151Arg)
|
rs72556265
|
|
NM_000531.6(OTC):c.473C>G (p.Pro158Arg)
|
rs2068485732
|
|
NM_000531.6(OTC):c.494A>G (p.Asp165Gly)
|
rs1555975685
|
|
NM_000531.6(OTC):c.512A>G (p.Gln171Arg)
|
|
|
NM_000531.6(OTC):c.523G>A (p.Asp175Asn)
|
rs2068486828
|
|
NM_000531.6(OTC):c.529C>T (p.Leu177Phe)
|
|
|
NM_000531.6(OTC):c.52C>A (p.His18Asn)
|
|
|
NM_000531.6(OTC):c.530T>C (p.Leu177Pro)
|
rs2068487036
|
|
NM_000531.6(OTC):c.530T>G (p.Leu177Arg)
|
rs2068487036
|
|
NM_000531.6(OTC):c.540+5G>C
|
|
|
NM_000531.6(OTC):c.541-12C>A
|
rs2068500853
|
|
NM_000531.6(OTC):c.54C>A (p.His18Gln)
|
rs2147315516
|
|
NM_000531.6(OTC):c.608C>T (p.Ser203Phe)
|
rs72558410
|
|
NM_000531.6(OTC):c.614T>G (p.Met205Arg)
|
|
|
NM_000531.6(OTC):c.641A>G (p.His214Arg)
|
|
|
NM_000531.6(OTC):c.642C>A (p.His214Gln)
|
|
|
NM_000531.6(OTC):c.656C>A (p.Thr219Asn)
|
|
|
NM_000531.6(OTC):c.689C>A (p.Thr230Asn)
|
|
|
NM_000531.6(OTC):c.701A>G (p.Glu234Gly)
|
|
|
NM_000531.6(OTC):c.77+5G>A
|
rs72552302
|
|
NM_000531.6(OTC):c.774T>A (p.Asn258Lys)
|
rs777282515
|
|
NM_000531.6(OTC):c.774T>G (p.Asn258Lys)
|
|
|
NM_000531.6(OTC):c.800G>T (p.Ser267Ile)
|
|
|
NM_000531.6(OTC):c.811G>C (p.Glu271Gln)
|
|
|
NM_000531.6(OTC):c.814G>A (p.Glu272Lys)
|
rs2068530106
|
|
NM_000531.6(OTC):c.845A>G (p.Gln282Arg)
|
rs2068530314
|
|
NM_000531.6(OTC):c.862A>G (p.Met288Val)
|
|
|
NM_000531.6(OTC):c.867G>A (p.Lys289=)
|
rs72558456
|
|
NM_000531.6(OTC):c.889G>A (p.Asp297Asn)
|
rs2068544820
|
|
NM_000531.6(OTC):c.88C>T (p.Pro30Ser)
|
|
|
NM_000531.6(OTC):c.908G>T (p.Cys303Phe)
|
|
|
NM_000531.6(OTC):c.916A>G (p.Arg306Gly)
|
rs2147346548
|
|
NM_000531.6(OTC):c.919A>G (p.Lys307Glu)
|
rs796052013
|
|
NM_000531.6(OTC):c.92T>C (p.Leu31Pro)
|
|
|
NM_000531.6(OTC):c.931G>A (p.Val311Met)
|
rs72558468
|
|
NM_000531.6(OTC):c.953CTC[1] (p.Pro319del)
|
rs1555976710
|
|
NM_000531.6(OTC):c.959G>A (p.Arg320Gln)
|
rs72558474
|
|
NM_000531.6(OTC):c.974C>T (p.Pro325Leu)
|
rs1602034625
|
|
NM_000531.6(OTC):c.976G>A (p.Glu326Lys)
|
rs72558476
|
|
NM_000532.4(PCCB):c.-46A>T
|
rs751837162
|
|
NM_000532.5(PCCB):c.*128_*132del
|
rs886058021
|
|
NM_000532.5(PCCB):c.1004A>G (p.Asn335Ser)
|
|
|
NM_000532.5(PCCB):c.1006T>A (p.Tyr336Asn)
|
|
|
NM_000532.5(PCCB):c.1013A>C (p.Lys338Thr)
|
|
|
NM_000532.5(PCCB):c.1015A>G (p.Asn339Asp)
|
rs1934921365
|
|
NM_000532.5(PCCB):c.1021A>G (p.Ile341Val)
|
|
|
NM_000532.5(PCCB):c.1022TTG[1] (p.Val342del)
|
|
|
NM_000532.5(PCCB):c.1037G>A (p.Arg346Lys)
|
|
|
NM_000532.5(PCCB):c.1039A>T (p.Met347Leu)
|
|
|
NM_000532.5(PCCB):c.1068C>T (p.Gly356=)
|
rs980116020
|
|
NM_000532.5(PCCB):c.106A>C (p.Asn36His)
|
|
|
NM_000532.5(PCCB):c.1088C>T (p.Ser363Leu)
|
rs2108226720
|
|
NM_000532.5(PCCB):c.1090+3A>C
|
|
|
NM_000532.5(PCCB):c.1090+6A>C
|
|
|
NM_000532.5(PCCB):c.1091-6_1091-3del
|
rs767794302
|
|
NM_000532.5(PCCB):c.1123_1124delinsCT (p.Ala375Leu)
|
|
|
NM_000532.5(PCCB):c.1124C>T (p.Ala375Val)
|
rs1576360099
|
|
NM_000532.5(PCCB):c.1127G>T (p.Arg376Leu)
|
rs142982097
|
|
NM_000532.5(PCCB):c.1132G>C (p.Val378Leu)
|
rs761529521
|
|
NM_000532.5(PCCB):c.1132G>T (p.Val378Phe)
|
rs761529521
|
|
NM_000532.5(PCCB):c.1142G>A (p.Cys381Tyr)
|
rs1024773388
|
|
NM_000532.5(PCCB):c.115A>G (p.Ile39Val)
|
rs1208205672
|
|
NM_000532.5(PCCB):c.1165A>T (p.Ile389Phe)
|
|
|
NM_000532.5(PCCB):c.1166T>A (p.Ile389Asn)
|
rs2108237886
|
|
NM_000532.5(PCCB):c.1169C>T (p.Thr390Ile)
|
rs201880353
|
|
NM_000532.5(PCCB):c.116T>G (p.Ile39Ser)
|
|
|
NM_000532.5(PCCB):c.1195C>T (p.Pro399Ser)
|
|
|
NM_000532.5(PCCB):c.119A>G (p.Glu40Gly)
|
|
|
NM_000532.5(PCCB):c.11_28dup (p.Ala4_Ala9dup)
|
rs777359703
|
|
NM_000532.5(PCCB):c.1202C>A (p.Thr401Lys)
|
rs371610471
|
|
NM_000532.5(PCCB):c.1202C>T (p.Thr401Ile)
|
|
|
NM_000532.5(PCCB):c.1207C>G (p.Gln403Glu)
|
|
|
NM_000532.5(PCCB):c.1219G>A (p.Gly407Ser)
|
|
|
NM_000532.5(PCCB):c.1220G>A (p.Gly407Asp)
|
|
|
NM_000532.5(PCCB):c.1220G>T (p.Gly407Val)
|
|
|
NM_000532.5(PCCB):c.1221del (p.Ile408fs)
|
rs1560033769
|
|
NM_000532.5(PCCB):c.1222ATC[1] (p.Ile409del)
|
|
|
NM_000532.5(PCCB):c.1226del (p.Ile409fs)
|
rs1560033794
|
|
NM_000532.5(PCCB):c.1231C>A (p.His411Asn)
|
|
|
NM_000532.5(PCCB):c.1235G>A (p.Gly412Asp)
|
rs994386938
|
|
NM_000532.5(PCCB):c.1252G>A (p.Ala418Thr)
|
|
|
NM_000532.5(PCCB):c.1253C>T (p.Ala418Val)
|
|
|
NM_000532.5(PCCB):c.1267A>G (p.Thr423Ala)
|
|
|
NM_000532.5(PCCB):c.1274C>T (p.Pro425Leu)
|
|
|
NM_000532.5(PCCB):c.127C>T (p.Arg43Cys)
|
rs1031941989
|
|
NM_000532.5(PCCB):c.1299+5G>A
|
|
|
NM_000532.5(PCCB):c.12_26del (p.Leu5_Ala9del)
|
rs1553773148
|
|
NM_000532.5(PCCB):c.1300-4T>A
|
rs1935372420
|
|
NM_000532.5(PCCB):c.130C>G (p.Arg44Gly)
|
rs749210374
|
|
NM_000532.5(PCCB):c.1313C>A (p.Ala438Asp)
|
|
|
NM_000532.5(PCCB):c.1348G>A (p.Asp450Asn)
|
|
|
NM_000532.5(PCCB):c.134C>G (p.Thr45Ser)
|
|
|
NM_000532.5(PCCB):c.1356C>G (p.Asn452Lys)
|
rs1455298516
|
|
NM_000532.5(PCCB):c.1358A>G (p.Tyr453Cys)
|
|
|
NM_000532.5(PCCB):c.1361C>A (p.Ala454Asp)
|
|
|
NM_000532.5(PCCB):c.1393G>A (p.Ala465Thr)
|
rs774232001
|
|
NM_000532.5(PCCB):c.1398+3G>A
|
rs767511434
|
|
NM_000532.5(PCCB):c.139C>A (p.Leu47Met)
|
|
|
NM_000532.5(PCCB):c.1400G>C (p.Gly467Ala)
|
rs2108240251
|
|
NM_000532.5(PCCB):c.1402G>A (p.Ala468Thr)
|
rs775563122
|
|
NM_000532.5(PCCB):c.1402G>T (p.Ala468Ser)
|
|
|
NM_000532.5(PCCB):c.140T>G (p.Leu47Arg)
|
|
|
NM_000532.5(PCCB):c.1452A>G (p.Ala484=)
|
rs781556055
|
|
NM_000532.5(PCCB):c.1462G>C (p.Glu488Gln)
|
|
|
NM_000532.5(PCCB):c.1475A>G (p.Asn492Ser)
|
|
|
NM_000532.5(PCCB):c.1482C>G (p.Phe494Leu)
|
rs1179000221
|
|
NM_000532.5(PCCB):c.1489G>A (p.Ala497Thr)
|
|
|
NM_000532.5(PCCB):c.1490C>G (p.Ala497Gly)
|
|
|
NM_000532.5(PCCB):c.1496G>T (p.Arg499Leu)
|
|
|
NM_000532.5(PCCB):c.1503del (p.Phe501fs)
|
rs1553785139
|
|
NM_000532.5(PCCB):c.1518C>G (p.Ile506Met)
|
|
|
NM_000532.5(PCCB):c.151G>A (p.Gly51Ser)
|
|
|
NM_000532.5(PCCB):c.1520A>G (p.Gln507Arg)
|
rs886058020
|
|
NM_000532.5(PCCB):c.1524TTC[1] (p.Ser510del)
|
rs1553785152
|
|
NM_000532.5(PCCB):c.1531A>C (p.Thr511Pro)
|
|
|
NM_000532.5(PCCB):c.1555C>G (p.Leu519Val)
|
rs1935481576
|
|
NM_000532.5(PCCB):c.1555_1557dup (p.Leu519dup)
|
rs1553785169
|
|
NM_000532.5(PCCB):c.1568C>T (p.Ala523Val)
|
|
|
NM_000532.5(PCCB):c.1570A>G (p.Ser524Gly)
|
rs1560035695
|
|
NM_000532.5(PCCB):c.1572C>G (p.Ser524Arg)
|
rs2108241736
|
|
NM_000532.5(PCCB):c.1574A>G (p.Lys525Arg)
|
|
|
NM_000532.5(PCCB):c.1585C>T (p.Arg529Cys)
|
|
|
NM_000532.5(PCCB):c.1586G>A (p.Arg529His)
|
|
|
NM_000532.5(PCCB):c.158G>A (p.Arg53His)
|
|
|
NM_000532.5(PCCB):c.1591T>G (p.Trp531Gly)
|
rs1284814283
|
|
NM_000532.5(PCCB):c.1609_1610del (p.Ile537fs)
|
|
|
NM_000532.5(PCCB):c.1610T>A (p.Ile537Asn)
|
rs759733016
|
|
NM_000532.5(PCCB):c.1612C>T (p.Pro538Ser)
|
rs775930817
|
|
NM_000532.5(PCCB):c.161G>A (p.Arg54His)
|
|
|
NM_000532.5(PCCB):c.163A>T (p.Ile55Phe)
|
rs561539546
|
|
NM_000532.5(PCCB):c.164T>C (p.Ile55Thr)
|
rs765790211
|
|
NM_000532.5(PCCB):c.166G>T (p.Asp56Tyr)
|
|
|
NM_000532.5(PCCB):c.16C>G (p.Arg6Gly)
|
|
|
NM_000532.5(PCCB):c.16C>T (p.Arg6Trp)
|
rs377681768
|
|
NM_000532.5(PCCB):c.170C>T (p.Ala57Val)
|
|
|
NM_000532.5(PCCB):c.175C>T (p.His59Tyr)
|
|
|
NM_000532.5(PCCB):c.17G>T (p.Arg6Leu)
|
rs767965814
|
|
NM_000532.5(PCCB):c.183+11_183+30dup
|
rs1205510892
|
|
NM_000532.5(PCCB):c.183+14G>A
|
|
|
NM_000532.5(PCCB):c.183+21_183+46del
|
|
|
NM_000532.5(PCCB):c.183+3_183+6del
|
|
|
NM_000532.5(PCCB):c.183+5G>A
|
rs879253813
|
|
NM_000532.5(PCCB):c.183+5G>C
|
|
|
NM_000532.5(PCCB):c.185G>C (p.Gly62Ala)
|
rs886058017
|
|
NM_000532.5(PCCB):c.197C>T (p.Ala66Val)
|
rs2108137275
|
|
NM_000532.5(PCCB):c.199A>G (p.Arg67Gly)
|
|
|
NM_000532.5(PCCB):c.19G>T (p.Val7Leu)
|
|
|
NM_000532.5(PCCB):c.202G>A (p.Glu68Lys)
|
rs2108137296
|
|
NM_000532.5(PCCB):c.210C>G (p.Ile70Met)
|
|
|
NM_000532.5(PCCB):c.211A>G (p.Ser71Gly)
|
|
|
NM_000532.5(PCCB):c.221T>C (p.Leu74Pro)
|
|
|
NM_000532.5(PCCB):c.223G>T (p.Asp75Tyr)
|
rs2108137332
|
|
NM_000532.5(PCCB):c.235T>G (p.Phe79Val)
|
|
|
NM_000532.5(PCCB):c.247G>A (p.Asp83Asn)
|
|
|
NM_000532.5(PCCB):c.274G>C (p.Asp92His)
|
rs2108137411
|
|
NM_000532.5(PCCB):c.275A>G (p.Asp92Gly)
|
|
|
NM_000532.5(PCCB):c.283A>G (p.Met95Val)
|
rs1941662476
|
|
NM_000532.5(PCCB):c.292_294del (p.Asp98del)
|
rs1307067547
|
|
NM_000532.5(PCCB):c.293A>C (p.Asp98Ala)
|
rs915881293
|
|
NM_000532.5(PCCB):c.298_303del (p.Asn100_Lys101del)
|
rs763485353
|
|
NM_000532.5(PCCB):c.319G>A (p.Val107Met)
|
rs1553774114
|
|
NM_000532.5(PCCB):c.344A>G (p.Asn115Ser)
|
rs2108138282
|
|
NM_000532.5(PCCB):c.34G>A (p.Ala12Thr)
|
|
|
NM_000532.5(PCCB):c.35C>A (p.Ala12Glu)
|
rs1257439275
|
|
NM_000532.5(PCCB):c.368G>T (p.Ser123Ile)
|
rs1941677490
|
|
NM_000532.5(PCCB):c.372+4T>C
|
|
|
NM_000532.5(PCCB):c.373-1243G>A
|
rs1184391176
|
|
NM_000532.5(PCCB):c.373-1246G>A
|
rs996480567
|
|
NM_000532.5(PCCB):c.392G>A (p.Gly131Asp)
|
|
|
NM_000532.5(PCCB):c.393C>T (p.Gly131=)
|
rs2108144426
|
|
NM_000532.5(PCCB):c.394A>G (p.Ser132Gly)
|
|
|
NM_000532.5(PCCB):c.404G>T (p.Gly135Val)
|
|
|
NM_000532.5(PCCB):c.40C>A (p.Leu14Ile)
|
|
|
NM_000532.5(PCCB):c.40C>T (p.Leu14Phe)
|
rs1215705998
|
|
NM_000532.5(PCCB):c.430-13T>G
|
|
|
NM_000532.5(PCCB):c.430A>G (p.Ile144Val)
|
|
|
NM_000532.5(PCCB):c.467T>C (p.Ile156Thr)
|
rs1559998737
|
|
NM_000532.5(PCCB):c.472C>G (p.Leu158Val)
|
rs2108146685
|
|
NM_000532.5(PCCB):c.477T>A (p.Asn159Lys)
|
rs765946213
|
|
NM_000532.5(PCCB):c.513G>C (p.Glu171Asp)
|
rs1941842177
|
|
NM_000532.5(PCCB):c.526T>C (p.Tyr176His)
|
|
|
NM_000532.5(PCCB):c.527A>G (p.Tyr176Cys)
|
|
|
NM_000532.5(PCCB):c.53C>G (p.Ala18Gly)
|
rs769481450
|
|
NM_000532.5(PCCB):c.53C>T (p.Ala18Val)
|
|
|
NM_000532.5(PCCB):c.545G>C (p.Arg182Thr)
|
rs2108181825
|
|
NM_000532.5(PCCB):c.553del (p.Thr185fs)
|
rs886058018
|
|
NM_000532.5(PCCB):c.554C>G (p.Thr185Arg)
|
rs369612150
|
|
NM_000532.5(PCCB):c.555G>C (p.Thr185=)
|
rs543691110
|
|
NM_000532.5(PCCB):c.565G>A (p.Val189Ile)
|
rs2108181880
|
|
NM_000532.5(PCCB):c.571C>G (p.Pro191Ala)
|
|
|
NM_000532.5(PCCB):c.577A>C (p.Ile193Leu)
|
rs1212475120
|
|
NM_000532.5(PCCB):c.586A>G (p.Ile196Val)
|
|
|
NM_000532.5(PCCB):c.58G>A (p.Gly20Ser)
|
rs777726717
|
|
NM_000532.5(PCCB):c.58G>T (p.Gly20Cys)
|
|
|
NM_000532.5(PCCB):c.590T>C (p.Met197Thr)
|
|
|
NM_000532.5(PCCB):c.596C>G (p.Pro199Arg)
|
rs1313783374
|
|
NM_000532.5(PCCB):c.596C>T (p.Pro199Leu)
|
|
|
NM_000532.5(PCCB):c.5C>A (p.Ala2Glu)
|
|
|
NM_000532.5(PCCB):c.5C>T (p.Ala2Val)
|
|
|
NM_000532.5(PCCB):c.611C>T (p.Ala204Val)
|
rs760499581
|
|
NM_000532.5(PCCB):c.617A>G (p.Tyr206Cys)
|
rs779033674
|
|
NM_000532.5(PCCB):c.620C>T (p.Ser207Phe)
|
rs1553777582
|
|
NM_000532.5(PCCB):c.634G>A (p.Asp212Asn)
|
|
|
NM_000532.5(PCCB):c.641C>G (p.Thr214Arg)
|
rs375740942
|
|
NM_000532.5(PCCB):c.649G>A (p.Val217Ile)
|
rs2108182134
|
|
NM_000532.5(PCCB):c.64C>T (p.Arg22Cys)
|
|
|
NM_000532.5(PCCB):c.652A>C (p.Lys218Gln)
|
|
|
NM_000532.5(PCCB):c.652A>G (p.Lys218Glu)
|
|
|
NM_000532.5(PCCB):c.655-3C>G
|
|
|
NM_000532.5(PCCB):c.682C>G (p.Pro228Ala)
|
rs1052979420
|
|
NM_000532.5(PCCB):c.68C>T (p.Ala23Val)
|
|
|
NM_000532.5(PCCB):c.703A>G (p.Thr235Ala)
|
|
|
NM_000532.5(PCCB):c.714T>A (p.Asp238Glu)
|
|
|
NM_000532.5(PCCB):c.716T>A (p.Val239Asp)
|
|
|
NM_000532.5(PCCB):c.722A>T (p.Gln241Leu)
|
|
|
NM_000532.5(PCCB):c.730C>A (p.Leu244Ile)
|
|
|
NM_000532.5(PCCB):c.734GTG[1] (p.Gly246del)
|
rs1553778892
|
|
NM_000532.5(PCCB):c.73G>A (p.Val25Ile)
|
|
|
NM_000532.5(PCCB):c.742A>C (p.Lys248Gln)
|
|
|
NM_000532.5(PCCB):c.749A>G (p.His250Arg)
|
rs1933813724
|
|
NM_000532.5(PCCB):c.751A>G (p.Thr251Ala)
|
|
|
NM_000532.5(PCCB):c.756_758del (p.Met253del)
|
|
|
NM_000532.5(PCCB):c.757A>G (p.Met253Val)
|
|
|
NM_000532.5(PCCB):c.763+3GA[4]
|
rs1553778916
|
|
NM_000532.5(PCCB):c.763G>A (p.Gly255Ser)
|
rs1553778909
|
|
NM_000532.5(PCCB):c.769G>A (p.Ala257Thr)
|
rs1197317905
|
|
NM_000532.5(PCCB):c.793G>A (p.Val265Ile)
|
|
|
NM_000532.5(PCCB):c.799G>T (p.Ala267Ser)
|
|
|
NM_000532.5(PCCB):c.808A>G (p.Asn270Asp)
|
|
|
NM_000532.5(PCCB):c.809A>G (p.Asn270Ser)
|
rs1234137372
|
|
NM_000532.5(PCCB):c.811C>T (p.Leu271Phe)
|
|
|
NM_000532.5(PCCB):c.819T>G (p.Asp273Glu)
|
|
|
NM_000532.5(PCCB):c.821T>A (p.Phe274Tyr)
|
|
|
NM_000532.5(PCCB):c.821T>C (p.Phe274Ser)
|
|
|
NM_000532.5(PCCB):c.82C>T (p.Leu28Phe)
|
|
|
NM_000532.5(PCCB):c.830A>G (p.Tyr277Cys)
|
|
|
NM_000532.5(PCCB):c.830A>T (p.Tyr277Phe)
|
rs2108202806
|
|
NM_000532.5(PCCB):c.850G>A (p.Asp284Asn)
|
rs777434061
|
|
NM_000532.5(PCCB):c.854C>T (p.Pro285Leu)
|
|
|
NM_000532.5(PCCB):c.865C>A (p.Arg289Ser)
|
rs771935604
|
|
NM_000532.5(PCCB):c.866G>A (p.Arg289His)
|
rs532142254
|
|
NM_000532.5(PCCB):c.866G>C (p.Arg289Pro)
|
|
|
NM_000532.5(PCCB):c.875A>G (p.His292Arg)
|
rs2108202909
|
|
NM_000532.5(PCCB):c.877G>A (p.Asp293Asn)
|
rs183013046
|
|
NM_000532.5(PCCB):c.884G>C (p.Ser295Thr)
|
rs752029455
|
|
NM_000532.5(PCCB):c.885-3A>C
|
|
|
NM_000532.5(PCCB):c.885-6C>G
|
|
|
NM_000532.5(PCCB):c.88A>G (p.Ser30Gly)
|
|
|
NM_000532.5(PCCB):c.890G>T (p.Arg297Leu)
|
rs147379583
|
|
NM_000532.5(PCCB):c.899C>T (p.Pro300Leu)
|
|
|
NM_000532.5(PCCB):c.913A>G (p.Ile305Val)
|
|
|
NM_000532.5(PCCB):c.919C>T (p.Pro307Ser)
|
|
|
NM_000532.5(PCCB):c.927A>C (p.Glu309Asp)
|
rs1934256655
|
|
NM_000532.5(PCCB):c.93_94insTTC (p.Gln31_Ala32insPhe)
|
rs2108127897
|
|
NM_000532.5(PCCB):c.941A>C (p.Tyr314Ser)
|
rs148578333
|
|
NM_000532.5(PCCB):c.946A>G (p.Met316Val)
|
|
|
NM_000532.5(PCCB):c.94G>A (p.Ala32Thr)
|
rs751136139
|
|
NM_000532.5(PCCB):c.950T>G (p.Val317Gly)
|
|
|
NM_000532.5(PCCB):c.952G>T (p.Asp318Tyr)
|
|
|
NM_000532.5(PCCB):c.957C>G (p.Ile319Met)
|
rs868483670
|
|
NM_000532.5(PCCB):c.95C>T (p.Ala32Val)
|
rs2108127907
|
|
NM_000532.5(PCCB):c.965C>T (p.Ser322Phe)
|
rs1034824113
|
|
NM_000532.5(PCCB):c.966+5G>A
|
rs1255284441
|
|
NM_000532.5(PCCB):c.972TGA[1] (p.Asp325del)
|
rs796052023
|
|
NM_000532.5(PCCB):c.979C>G (p.Arg327Gly)
|
|
|
NM_000532.5(PCCB):c.985T>G (p.Phe329Val)
|
|
|
NM_000539.3(RHO):c.*1454G>A
|
rs2084812090
|
|
NM_000539.3(RHO):c.*224C>T
|
rs886057970
|
|
NM_000539.3(RHO):c.*26C>T
|
rs773347364
|
|
NM_000539.3(RHO):c.*276C>T
|
rs759322778
|
|
NM_000539.3(RHO):c.*406G>C
|
rs2084804479
|
|
NM_000539.3(RHO):c.*40C>T
|
rs886057968
|
|
NM_000539.3(RHO):c.*542G>A
|
rs369408405
|
|
NM_000539.3(RHO):c.*573C>T
|
rs2084806235
|
|
NM_000539.3(RHO):c.*633G>A
|
rs886057972
|
|
NM_000539.3(RHO):c.*645G>C
|
rs886057973
|
|
NM_000539.3(RHO):c.*670A>C
|
rs2084806843
|
|
NM_000539.3(RHO):c.*679A>G
|
rs1359424642
|
|
NM_000539.3(RHO):c.*815G>T
|
rs2084807511
|
|
NM_000539.3(RHO):c.*838A>T
|
rs886057974
|
|
NM_000539.3(RHO):c.*887G>C
|
rs886057975
|
|
NM_000539.3(RHO):c.*959A>G
|
rs368910470
|
|
NM_000539.3(RHO):c.*970C>T
|
rs886057976
|
|
NM_000539.3(RHO):c.-24G>T
|
rs771188148
|
|
NM_000539.3(RHO):c.1021G>A (p.Glu341Lys)
|
rs142322202
|
|
NM_000539.3(RHO):c.211C>T (p.Pro71Ser)
|
rs1305158106
|
|
NM_000539.3(RHO):c.218A>G (p.Asn73Ser)
|
rs779169631
|
|
NM_000539.3(RHO):c.568G>C (p.Asp190His)
|
rs104893779
|
|
NM_000539.3(RHO):c.571T>G (p.Tyr191Asp)
|
rs1578280614
|
|
NM_000539.3(RHO):c.586C>A (p.Pro196Thr)
|
rs765931092
|
|
NM_000539.3(RHO):c.614T>G (p.Ile205Ser)
|
rs886057967
|
|
NM_000539.3(RHO):c.66C>A (p.Ser22Arg)
|
rs749567084
|
|
NM_000539.3(RHO):c.696+12G>A
|
rs55915536
|
|
NM_000539.3(RHO):c.704C>A (p.Ala235Asp)
|
rs1390478420
|
|
NM_000539.3(RHO):c.755G>A (p.Arg252His)
|
rs765438313
|
|
NM_000539.3(RHO):c.766_777del (p.Ile256_Ile259del)
|
rs2084789093
|
|
NM_000539.3(RHO):c.778_789del (p.Ala260_Ile263del)
|
rs2084789357
|
|
NM_000539.3(RHO):c.847T>C (p.Phe283Leu)
|
rs2084790979
|
|
NM_000539.3(RHO):c.895G>A (p.Ala299Thr)
|
rs779665096
|
|
NM_000539.3(RHO):c.913A>G (p.Ile305Val)
|
rs199701338
|
|
NM_000539.3(RHO):c.948C>T (p.Cys316=)
|
rs754809715
|
|
NM_000541.5(SAG):c.*90G>A
|
rs143418950
|
|
NM_000541.5(SAG):c.733G>A (p.Val245Met)
|
|
|
NM_000541.5(SAG):c.793A>G (p.Met265Val)
|
rs781755716
|
|
NM_000554.4:c.(?_-1)_(*1_?)dup
|
|
|
NM_000554.6(CRX):c.*110C>A
|
rs1968176550
|
|
NM_000554.6(CRX):c.*1149G>A
|
rs886054555
|
|
NM_000554.6(CRX):c.*1223A>G
|
rs1968192567
|
|
NM_000554.6(CRX):c.*1309T>C
|
rs886054556
|
|
NM_000554.6(CRX):c.*1330C>T
|
rs1049141176
|
|
NM_000554.6(CRX):c.*2225A>G
|
rs1968205705
|
|
NM_000554.6(CRX):c.*234G>A
|
rs754333326
|
|
NM_000554.6(CRX):c.*2580G>A
|
rs1968211334
|
|
NM_000554.6(CRX):c.*272T>C
|
rs1286758532
|
|
NM_000554.6(CRX):c.*2850G>A
|
rs769789306
|
|
NM_000554.6(CRX):c.*2935G>T
|
rs1968215891
|
|
NM_000554.6(CRX):c.*2952G>A
|
rs886054562
|
|
NM_000554.6(CRX):c.*2979T>C
|
rs1968216535
|
|
NM_000554.6(CRX):c.*3077C>G
|
rs965939233
|
|
NM_000554.6(CRX):c.*3099C>T
|
rs1968218106
|
|
NM_000554.6(CRX):c.-55C>T
|
rs886054543
|
|
NM_000554.6(CRX):c.100+3G>C
|
rs1568624171
|
|
NM_000554.6(CRX):c.100+5G>A
|
|
|
NM_000554.6(CRX):c.105C>A (p.Ala35=)
|
rs886054545
|
|
NM_000554.6(CRX):c.106C>T (p.Pro36Ser)
|
|
|
NM_000554.6(CRX):c.108del (p.Arg37fs)
|
rs2123739840
|
|
NM_000554.6(CRX):c.119G>C (p.Arg40Pro)
|
|
|
NM_000554.6(CRX):c.125_128dup (p.Thr44fs)
|
rs2123739871
|
|
NM_000554.6(CRX):c.127C>A (p.Arg43Ser)
|
rs1437021651
|
|
NM_000554.6(CRX):c.128G>T (p.Arg43Leu)
|
rs771736389
|
|
NM_000554.6(CRX):c.133A>G (p.Thr45Ala)
|
|
|
NM_000554.6(CRX):c.139A>C (p.Thr47Pro)
|
rs1939392843
|
|
NM_000554.6(CRX):c.143G>A (p.Arg48Gln)
|
|
|
NM_000554.6(CRX):c.176_177del (p.Ala59fs)
|
rs2123739943
|
|
NM_000554.6(CRX):c.182C>T (p.Thr61Ile)
|
rs1599985527
|
|
NM_000554.6(CRX):c.196G>T (p.Val66Phe)
|
rs61748438
|
|
NM_000554.6(CRX):c.205C>G (p.Arg69Gly)
|
|
|
NM_000554.6(CRX):c.211G>A (p.Glu71Lys)
|
|
|
NM_000554.6(CRX):c.226A>T (p.Ile76Phe)
|
rs2123740000
|
|
NM_000554.6(CRX):c.253-1G>T
|
|
|
NM_000554.6(CRX):c.258G>C (p.Trp86Cys)
|
rs1968160766
|
|
NM_000554.6(CRX):c.25C>T (p.Pro9Ser)
|
rs2123738269
|
|
NM_000554.6(CRX):c.262A>G (p.Lys88Glu)
|
rs1968160874
|
|
NM_000554.6(CRX):c.263A>G (p.Lys88Arg)
|
rs1001151383
|
|
NM_000554.6(CRX):c.274G>A (p.Ala92Thr)
|
rs786205521
|
|
NM_000554.6(CRX):c.274G>C (p.Ala92Pro)
|
rs786205521
|
|
NM_000554.6(CRX):c.281G>A (p.Cys94Tyr)
|
|
|
NM_000554.6(CRX):c.319C>G (p.Pro107Ala)
|
|
|
NM_000554.6(CRX):c.323del (p.Pro108fs)
|
rs1968162287
|
|
NM_000554.6(CRX):c.324del (p.Gly110fs)
|
rs2123742895
|
|
NM_000554.6(CRX):c.349G>A (p.Ala117Thr)
|
rs1599991109
|
|
NM_000554.6(CRX):c.362C>T (p.Ala121Val)
|
|
|
NM_000554.6(CRX):c.365del (p.Gly122fs)
|
rs1968163226
|
|
NM_000554.6(CRX):c.377G>A (p.Arg126Lys)
|
rs1299569341
|
|
NM_000554.6(CRX):c.37G>C (p.Val13Leu)
|
|
|
NM_000554.6(CRX):c.380C>T (p.Pro127Leu)
|
|
|
NM_000554.6(CRX):c.381del (p.Ser128fs)
|
rs1599991268
|
|
NM_000554.6(CRX):c.400G>A (p.Asp134Asn)
|
rs1968164288
|
|
NM_000554.6(CRX):c.404C>G (p.Pro135Arg)
|
rs2123743010
|
|
NM_000554.6(CRX):c.407_416dup (p.Asp140fs)
|
rs1968164438
|
|
NM_000554.6(CRX):c.415T>G (p.Ser139Ala)
|
rs373281561
|
|
NM_000554.6(CRX):c.426C>A (p.Tyr142Ter)
|
rs1968164899
|
|
NM_000554.6(CRX):c.42C>A (p.Asn14Lys)
|
rs774344094
|
|
NM_000554.6(CRX):c.435del (p.Leu146fs)
|
rs1968165217
|
|
NM_000554.6(CRX):c.442G>C (p.Gly148Arg)
|
rs760080266
|
|
NM_000554.6(CRX):c.484A>C (p.Ile162Leu)
|
|
|
NM_000554.6(CRX):c.488G>A (p.Trp163Ter)
|
|
|
NM_000554.6(CRX):c.494del (p.Pro165fs)
|
rs2123743155
|
|
NM_000554.6(CRX):c.497C>A (p.Ala166Asp)
|
|
|
NM_000554.6(CRX):c.501del (p.Glu168fs)
|
rs2123743175
|
|
NM_000554.6(CRX):c.509del (p.Pro170fs)
|
rs2123743184
|
|
NM_000554.6(CRX):c.526C>T (p.Arg176Trp)
|
rs543243551
|
|
NM_000554.6(CRX):c.527G>A (p.Arg176Gln)
|
|
|
NM_000554.6(CRX):c.529del (p.Ala177fs)
|
rs61748449
|
|
NM_000554.6(CRX):c.532G>C (p.Gly178Arg)
|
|
|
NM_000554.6(CRX):c.533G>C (p.Gly178Ala)
|
rs926713896
|
|
NM_000554.6(CRX):c.541_542del (p.Ala181fs)
|
|
|
NM_000554.6(CRX):c.557del (p.Leu186fs)
|
|
|
NM_000554.6(CRX):c.565G>C (p.Ala189Pro)
|
rs142111462
|
|
NM_000554.6(CRX):c.566C>T (p.Ala189Val)
|
|
|
NM_000554.6(CRX):c.575C>A (p.Ala192Asp)
|
|
|
NM_000554.6(CRX):c.578T>A (p.Met193Lys)
|
rs771206912
|
|
NM_000554.6(CRX):c.581C>A (p.Thr194Asn)
|
rs774657041
|
|
NM_000554.6(CRX):c.586G>T (p.Ala196Ser)
|
|
|
NM_000554.6(CRX):c.587C>T (p.Ala196Val)
|
rs1372852556
|
|
NM_000554.6(CRX):c.591_594dup (p.Ser199fs)
|
|
|
NM_000554.6(CRX):c.592del (p.Ala198fs)
|
rs1968169272
|
|
NM_000554.6(CRX):c.593C>T (p.Ala198Val)
|
rs776232503
|
|
NM_000554.6(CRX):c.594_606del (p.Ser199fs)
|
rs1968169319
|
|
NM_000554.6(CRX):c.597del (p.Ala200fs)
|
rs2123743359
|
|
NM_000554.6(CRX):c.598G>A (p.Ala200Thr)
|
|
|
NM_000554.6(CRX):c.605del (p.Cys202fs)
|
rs878853383
|
|
NM_000554.6(CRX):c.60C>G (p.Gly20=)
|
rs769017861
|
|
NM_000554.6(CRX):c.616T>C (p.Ser206Pro)
|
rs1193377720
|
|
NM_000554.6(CRX):c.626G>A (p.Gly209Glu)
|
rs1968170166
|
|
NM_000554.6(CRX):c.628T>G (p.Ser210Ala)
|
|
|
NM_000554.6(CRX):c.651C>T (p.Gly217=)
|
rs1968170615
|
|
NM_000554.6(CRX):c.658C>A (p.Pro220Thr)
|
|
|
NM_000554.6(CRX):c.660del (p.Tyr221fs)
|
rs864309707
|
|
NM_000554.6(CRX):c.660dup (p.Tyr221fs)
|
rs864309707
|
|
NM_000554.6(CRX):c.673A>G (p.Met225Val)
|
|
|
NM_000554.6(CRX):c.675G>C (p.Met225Ile)
|
|
|
NM_000554.6(CRX):c.684G>C (p.Gln228His)
|
rs756105390
|
|
NM_000554.6(CRX):c.684_685delinsAA (p.Leu229Ile)
|
rs1968171338
|
|
NM_000554.6(CRX):c.695C>T (p.Pro232Leu)
|
|
|
NM_000554.6(CRX):c.702T>C (p.Leu234=)
|
rs992252014
|
|
NM_000554.6(CRX):c.709C>A (p.Leu237Ile)
|
|
|
NM_000554.6(CRX):c.713C>A (p.Ser238Tyr)
|
rs1968172066
|
|
NM_000554.6(CRX):c.717C>A (p.Gly239=)
|
rs886054546
|
|
NM_000554.6(CRX):c.719C>T (p.Pro240Leu)
|
|
|
NM_000554.6(CRX):c.728dup (p.Pro244fs)
|
rs1968172289
|
|
NM_000554.6(CRX):c.740C>A (p.Ala247Asp)
|
|
|
NM_000554.6(CRX):c.750del (p.Thr251fs)
|
rs2123743577
|
|
NM_000554.6(CRX):c.753del (p.Ser252fs)
|
rs61749660
|
|
NM_000554.6(CRX):c.755C>T (p.Ser252Phe)
|
|
|
NM_000554.6(CRX):c.773A>G (p.Tyr258Cys)
|
|
|
NM_000554.6(CRX):c.783C>G (p.Tyr261Ter)
|
rs2123743638
|
|
NM_000554.6(CRX):c.784A>G (p.Ser262Gly)
|
|
|
NM_000554.6(CRX):c.790G>T (p.Val264Leu)
|
rs138146799
|
|
NM_000554.6(CRX):c.793G>T (p.Asp265Tyr)
|
rs751790087
|
|
NM_000554.6(CRX):c.794A>T (p.Asp265Val)
|
rs2123743660
|
|
NM_000554.6(CRX):c.798del (p.Leu267fs)
|
rs2123743667
|
|
NM_000554.6(CRX):c.799T>G (p.Leu267Val)
|
|
|
NM_000554.6(CRX):c.806T>A (p.Phe269Tyr)
|
rs2123743672
|
|
NM_000554.6(CRX):c.834C>A (p.Phe278Leu)
|
|
|
NM_000554.6(CRX):c.841A>G (p.Asn281Asp)
|
rs2123743725
|
|
NM_000554.6(CRX):c.844C>T (p.Pro282Ser)
|
|
|
NM_000554.6(CRX):c.857T>C (p.Leu286Pro)
|
rs886054547
|
|
NM_000554.6(CRX):c.85G>A (p.Ala29Thr)
|
|
|
NM_000554.6(CRX):c.863A>G (p.Tyr288Cys)
|
|
|
NM_000554.6(CRX):c.871C>T (p.Gln291Ter)
|
rs2123743754
|
|
NM_000554.6(CRX):c.873G>T (p.Gln291His)
|
rs1968174829
|
|
NM_000554.6(CRX):c.893T>A (p.Ile298Asn)
|
rs2123743769
|
|
NM_000554.6(CRX):c.89T>A (p.Val30Glu)
|
|
|
NM_000666.3(ACY1):c.1201G>T (p.Val401Leu)
|
rs1701179354
|
|
NM_000666.3(ACY1):c.19G>C (p.Glu7Gln)
|
rs953420417
|
|
NM_000666.3(ACY1):c.921+21A>T
|
rs1701122828
|
|
NM_000666.3(ACY1):c.94+11G>A
|
rs745456534
|
|
NM_000687.3(AHCY):c.-107G>A
|
rs886056637
|
|
NM_000687.4(AHCY):c.*678C>T
|
rs371150068
|
|
NM_000687.4(AHCY):c.-50A>C
|
rs199791897
|
|
NM_000687.4(AHCY):c.1004G>A (p.Arg335His)
|
|
|
NM_000687.4(AHCY):c.1009A>G (p.Ile337Val)
|
rs771507250
|
|
NM_000687.4(AHCY):c.1019C>G (p.Ala340Gly)
|
rs1205008917
|
|
NM_000687.4(AHCY):c.104T>C (p.Met35Thr)
|
rs770343325
|
|
NM_000687.4(AHCY):c.1096G>A (p.Val366Met)
|
|
|
NM_000687.4(AHCY):c.1103C>T (p.Ala368Val)
|
|
|
NM_000687.4(AHCY):c.1133A>G (p.Lys378Arg)
|
|
|
NM_000687.4(AHCY):c.1134G>C (p.Lys378Asn)
|
|
|
NM_000687.4(AHCY):c.1142T>C (p.Val381Ala)
|
rs759021534
|
|
NM_000687.4(AHCY):c.1160C>T (p.Pro387Leu)
|
|
|
NM_000687.4(AHCY):c.1167+15C>A
|
rs1229673205
|
|
NM_000687.4(AHCY):c.1170G>A (p.Leu390=)
|
rs886056636
|
|
NM_000687.4(AHCY):c.1188A>T (p.Glu396Asp)
|
rs886056635
|
|
NM_000687.4(AHCY):c.1210G>A (p.Val404Met)
|
|
|
NM_000687.4(AHCY):c.1223A>G (p.Lys408Arg)
|
|
|
NM_000687.4(AHCY):c.1223A>T (p.Lys408Met)
|
|
|
NM_000687.4(AHCY):c.1228A>T (p.Thr410Ser)
|
rs1194152113
|
|
NM_000687.4(AHCY):c.1282G>A (p.Asp428Asn)
|
|
|
NM_000687.4(AHCY):c.1292G>A (p.Arg431His)
|
|
|
NM_000687.4(AHCY):c.1296C>G (p.Tyr432Ter)
|
|
|
NM_000687.4(AHCY):c.137A>C (p.Lys46Thr)
|
|
|
NM_000687.4(AHCY):c.151G>T (p.Ala51Ser)
|
|
|
NM_000687.4(AHCY):c.172G>T (p.Val58Leu)
|
|
|
NM_000687.4(AHCY):c.176A>T (p.Glu59Val)
|
|
|
NM_000687.4(AHCY):c.184G>A (p.Val62Ile)
|
|
|
NM_000687.4(AHCY):c.199C>T (p.Leu67Phe)
|
|
|
NM_000687.4(AHCY):c.202G>A (p.Val68Ile)
|
|
|
NM_000687.4(AHCY):c.206C>A (p.Thr69Asn)
|
|
|
NM_000687.4(AHCY):c.241A>G (p.Ile81Val)
|
rs2036496036
|
|
NM_000687.4(AHCY):c.263C>T (p.Ala88Val)
|
|
|
NM_000687.4(AHCY):c.335G>T (p.Trp112Leu)
|
|
|
NM_000687.4(AHCY):c.34A>G (p.Ile12Val)
|
|
|
NM_000687.4(AHCY):c.350C>A (p.Thr117Asn)
|
|
|
NM_000687.4(AHCY):c.366C>G (p.Asp122Glu)
|
rs141935523
|
|
NM_000687.4(AHCY):c.373C>G (p.Leu125Val)
|
|
|
NM_000687.4(AHCY):c.394G>A (p.Gly132Arg)
|
|
|
NM_000687.4(AHCY):c.43G>A (p.Ala15Thr)
|
|
|
NM_000687.4(AHCY):c.443C>T (p.Pro148Leu)
|
|
|
NM_000687.4(AHCY):c.457A>G (p.Ile153Val)
|
|
|
NM_000687.4(AHCY):c.468G>C (p.Glu156Asp)
|
rs1568799740
|
|
NM_000687.4(AHCY):c.46G>C (p.Ala16Pro)
|
|
|
NM_000687.4(AHCY):c.475A>G (p.Thr159Ala)
|
|
|
NM_000687.4(AHCY):c.526C>T (p.Pro176Ser)
|
|
|
NM_000687.4(AHCY):c.558+4_558+27del
|
|
|
NM_000687.4(AHCY):c.578A>G (p.Tyr193Cys)
|
rs772905203
|
|
NM_000687.4(AHCY):c.586C>T (p.Arg196Trp)
|
rs2122760447
|
|
NM_000687.4(AHCY):c.5C>A (p.Ser2Tyr)
|
|
|
NM_000687.4(AHCY):c.647C>T (p.Ala216Val)
|
|
|
NM_000687.4(AHCY):c.659G>T (p.Gly220Val)
|
|
|
NM_000687.4(AHCY):c.662A>G (p.Tyr221Cys)
|
|
|
NM_000687.4(AHCY):c.67G>C (p.Asp23His)
|
|
|
NM_000687.4(AHCY):c.685G>A (p.Ala229Thr)
|
rs767066341
|
|
NM_000687.4(AHCY):c.697C>T (p.Arg233Trp)
|
|
|
NM_000687.4(AHCY):c.70A>G (p.Ile24Val)
|
|
|
NM_000687.4(AHCY):c.712C>T (p.Arg238Cys)
|
|
|
NM_000687.4(AHCY):c.715G>A (p.Val239Ile)
|
|
|
NM_000687.4(AHCY):c.731T>C (p.Ile244Thr)
|
|
|
NM_000687.4(AHCY):c.766+2T>G
|
rs1348839036
|
|
NM_000687.4(AHCY):c.773A>C (p.Glu258Ala)
|
|
|
NM_000687.4(AHCY):c.781A>G (p.Thr261Ala)
|
|
|
NM_000687.4(AHCY):c.793G>A (p.Ala265Thr)
|
|
|
NM_000687.4(AHCY):c.802G>A (p.Glu268Lys)
|
rs2122758097
|
|
NM_000687.4(AHCY):c.82G>A (p.Glu28Lys)
|
|
|
NM_000687.4(AHCY):c.841A>G (p.Ile281Val)
|
|
|
NM_000687.4(AHCY):c.854G>A (p.Arg285Gln)
|
|
|
NM_000687.4(AHCY):c.883A>G (p.Ile295Val)
|
|
|
NM_000687.4(AHCY):c.910G>A (p.Val304Met)
|
|
|
NM_000687.4(AHCY):c.910G>T (p.Val304Leu)
|
|
|
NM_000687.4(AHCY):c.937G>A (p.Glu313Lys)
|
|
|
NM_000687.4(AHCY):c.943G>A (p.Ala315Thr)
|
|
|
NM_000687.4(AHCY):c.943G>T (p.Ala315Ser)
|
|
|
NM_000687.4(AHCY):c.946G>A (p.Val316Met)
|
|
|
NM_000687.4(AHCY):c.97A>G (p.Met33Val)
|
rs1555835400
|
|
NM_000687.4(AHCY):c.980G>A (p.Arg327Gln)
|
|
|
NM_000687.4(AHCY):c.986G>A (p.Arg329Gln)
|
|
|
NM_000709.3(BCKDHA):c.111_122del12
|
rs751877248
|
|
NM_000709.4(BCKDHA):c.*223T>A
|
rs373164531
|
|
NM_000709.4(BCKDHA):c.*301G>A
|
rs2039411821
|
|
NM_000709.4(BCKDHA):c.*365A>G
|
rs886054464
|
|
NM_000709.4(BCKDHA):c.1011C>G (p.Ser337Arg)
|
rs1417360930
|
|
NM_000709.4(BCKDHA):c.1031C>T (p.Ala344Val)
|
|
|
NM_000709.4(BCKDHA):c.1073A>G (p.Asp358Gly)
|
|
|
NM_000709.4(BCKDHA):c.1074C>A (p.Asp358Glu)
|
rs2122146497
|
|
NM_000709.4(BCKDHA):c.108+4A>G
|
|
|
NM_000709.4(BCKDHA):c.109-15T>A
|
|
|
NM_000709.4(BCKDHA):c.1137_1165del (p.Lys380fs)
|
|
|
NM_000709.4(BCKDHA):c.1180T>C (p.Phe394Leu)
|
|
|
NM_000709.4(BCKDHA):c.1189G>A (p.Ala397Thr)
|
|
|
NM_000709.4(BCKDHA):c.1196G>A (p.Arg399Gln)
|
|
|
NM_000709.4(BCKDHA):c.1218C>T (p.Asn406=)
|
|
|
NM_000709.4(BCKDHA):c.121CAG[5] (p.Gln44dup)
|
rs756657259
|
|
NM_000709.4(BCKDHA):c.1267CAG[1] (p.Gln424del)
|
rs1555767305
|
|
NM_000709.4(BCKDHA):c.1280_1282del (p.Leu427_Ala428delinsPro)
|
rs755691417
|
|
NM_000709.4(BCKDHA):c.1285C>T (p.Arg429Cys)
|
|
|
NM_000709.4(BCKDHA):c.135T>G (p.Phe45Leu)
|
rs1430080785
|
|
NM_000709.4(BCKDHA):c.143T>C (p.Leu48Pro)
|
rs879103338
|
|
NM_000709.4(BCKDHA):c.148G>C (p.Asp50His)
|
|
|
NM_000709.4(BCKDHA):c.173C>T (p.Ser58Leu)
|
|
|
NM_000709.4(BCKDHA):c.202A>G (p.Ile68Val)
|
|
|
NM_000709.4(BCKDHA):c.203T>A (p.Ile68Asn)
|
|
|
NM_000709.4(BCKDHA):c.208C>T (p.Pro70Ser)
|
|
|
NM_000709.4(BCKDHA):c.214G>A (p.Val72Ile)
|
|
|
NM_000709.4(BCKDHA):c.239G>A (p.Arg80His)
|
|
|
NM_000709.4(BCKDHA):c.241G>A (p.Val81Ile)
|
|
|
NM_000709.4(BCKDHA):c.246G>A (p.Met82Ile)
|
|
|
NM_000709.4(BCKDHA):c.251G>A (p.Arg84Gln)
|
|
|
NM_000709.4(BCKDHA):c.276C>T (p.Ser92=)
|
|
|
NM_000709.4(BCKDHA):c.282C>A (p.Asp94Glu)
|
|
|
NM_000709.4(BCKDHA):c.28G>T (p.Val10Phe)
|
rs1307495247
|
|
NM_000709.4(BCKDHA):c.303G>C (p.Lys101Asn)
|
|
|
NM_000709.4(BCKDHA):c.35G>A (p.Arg12Gln)
|
rs769659202
|
|
NM_000709.4(BCKDHA):c.371G>C (p.Arg124Pro)
|
rs752700457
|
|
NM_000709.4(BCKDHA):c.375+5G>A
|
|
|
NM_000709.4(BCKDHA):c.397A>G (p.Thr133Ala)
|
|
|
NM_000709.4(BCKDHA):c.428G>A (p.Gly143Glu)
|
rs2039284027
|
|
NM_000709.4(BCKDHA):c.43C>T (p.Arg15Cys)
|
rs371408960
|
|
NM_000709.4(BCKDHA):c.441C>G (p.Ala147=)
|
rs2039284438
|
|
NM_000709.4(BCKDHA):c.456C>A (p.Asp152Glu)
|
|
|
NM_000709.4(BCKDHA):c.485G>A (p.Gly162Asp)
|
|
|
NM_000709.4(BCKDHA):c.495G>A (p.Met165Ile)
|
rs754327984
|
|
NM_000709.4(BCKDHA):c.562G>T (p.Gly188Trp)
|
rs1555766625
|
|
NM_000709.4(BCKDHA):c.586G>A (p.Gly196Ser)
|
rs1191782907
|
|
NM_000709.4(BCKDHA):c.623C>T (p.Pro208Leu)
|
|
|
NM_000709.4(BCKDHA):c.648G>A (p.Ala216=)
|
|
|
NM_000709.4(BCKDHA):c.673C>T (p.Arg225Trp)
|
|
|
NM_000709.4(BCKDHA):c.677C>T (p.Ala226Val)
|
|
|
NM_000709.4(BCKDHA):c.691G>T (p.Val231Phe)
|
rs2122142932
|
|
NM_000709.4(BCKDHA):c.694G>A (p.Val232Ile)
|
|
|
NM_000709.4(BCKDHA):c.709G>A (p.Gly237Ser)
|
|
|
NM_000709.4(BCKDHA):c.731G>T (p.Gly244Val)
|
|
|
NM_000709.4(BCKDHA):c.743C>T (p.Ala248Val)
|
rs887411374
|
|
NM_000709.4(BCKDHA):c.761C>A (p.Ala254Asp)
|
rs373713279
|
|
NM_000709.4(BCKDHA):c.782TCT[2] (p.Phe263del)
|
rs398123505
|
|
NM_000709.4(BCKDHA):c.792C>G (p.Cys264Trp)
|
rs137852876
|
|
NM_000709.4(BCKDHA):c.794G>C (p.Arg265Pro)
|
rs761996996
|
|
NM_000709.4(BCKDHA):c.800A>G (p.Asn267Ser)
|
|
|
NM_000709.4(BCKDHA):c.838C>T (p.Arg280Cys)
|
|
|
NM_000709.4(BCKDHA):c.842G>T (p.Gly281Val)
|
rs886054461
|
|
NM_000709.4(BCKDHA):c.859C>G (p.Arg287Gly)
|
rs764247545
|
|
NM_000709.4(BCKDHA):c.892G>A (p.Val298Met)
|
rs1253348004
|
|
NM_000709.4(BCKDHA):c.925G>T (p.Ala309Ser)
|
|
|
NM_000709.4(BCKDHA):c.939C>T (p.Ala313=)
|
rs2039381646
|
|
NM_000709.4(BCKDHA):c.949G>T (p.Ala317Ser)
|
|
|
NM_000709.4(BCKDHA):c.968C>G (p.Pro323Arg)
|
rs779466371
|
|
NM_000709.4(BCKDHA):c.978C>A (p.Ile326=)
|
rs398123514
|
|
NM_000709.4(BCKDHA):c.978C>G (p.Ile326Met)
|
|
|
NM_000709.4(BCKDHA):c.995+8C>T
|
rs886054462
|
|
NM_000709.4(BCKDHA):c.995+9C>G
|
rs13343330
|
|
NM_000717.5(CA4):c.*78T>C
|
rs372423531
|
|
NM_000717.5(CA4):c.210C>A (p.Phe70Leu)
|
rs886053185
|
|
NM_000717.5(CA4):c.655C>A (p.Arg219Ser)
|
rs121434551
|
|
NM_000717.5(CA4):c.699C>T (p.Val233=)
|
rs764759588
|
|
NM_000744.7(CHRNA4):c.1175C>T (p.Pro392Leu)
|
rs2123471262
|
|
NM_000812.4(GABRB1):c.1243G>C (p.Gly415Arg)
|
|
|
NM_000812.4(GABRB1):c.307C>T (p.Pro103Ser)
|
rs775749394
|
|
NM_000812.4(GABRB1):c.629A>G (p.Gln210Arg)
|
rs1728466964
|
|
NM_000812.4(GABRB1):c.74C>G (p.Ala25Gly)
|
|
|
NM_000836.4(GRIN2D):c.1033G>A (p.Gly345Ser)
|
|
|
NM_000836.4(GRIN2D):c.1126T>C (p.Phe376Leu)
|
|
|
NM_000836.4(GRIN2D):c.1556G>A (p.Gly519Asp)
|
|
|
NM_000836.4(GRIN2D):c.1605G>T (p.Met535Ile)
|
rs1390364278
|
|
NM_000836.4(GRIN2D):c.181G>C (p.Ala61Pro)
|
|
|
NM_000836.4(GRIN2D):c.191C>T (p.Ala64Val)
|
|
|
NM_000836.4(GRIN2D):c.2008C>T (p.Leu670Phe)
|
rs1600982189
|
|
NM_000836.4(GRIN2D):c.2356A>G (p.Thr786Ala)
|
rs1971296612
|
|
NM_000836.4(GRIN2D):c.2393G>A (p.Arg798His)
|
|
|
NM_000836.4(GRIN2D):c.2462G>A (p.Arg821Gln)
|
|
|
NM_000836.4(GRIN2D):c.2695_2697delinsACC (p.Ala899Thr)
|
|
|
NM_000836.4(GRIN2D):c.2777C>T (p.Ala926Val)
|
|
|
NM_000836.4(GRIN2D):c.2867G>T (p.Gly956Val)
|
|
|
NM_000836.4(GRIN2D):c.3022T>C (p.Phe1008Leu)
|
rs2147476513
|
|
NM_000836.4(GRIN2D):c.3025G>T (p.Ala1009Ser)
|
|
|
NM_000836.4(GRIN2D):c.3220C>A (p.Pro1074Thr)
|
|
|
NM_000836.4(GRIN2D):c.3242G>A (p.Gly1081Asp)
|
|
|
NM_000836.4(GRIN2D):c.3340G>A (p.Asp1114Asn)
|
|
|
NM_000836.4(GRIN2D):c.3340GACTCGGAG[3] (p.1114DSE[3])
|
rs749701862
|
|
NM_000836.4(GRIN2D):c.3422A>T (p.Tyr1141Phe)
|
|
|
NM_000836.4(GRIN2D):c.3431G>C (p.Arg1144Pro)
|
|
|
NM_000836.4(GRIN2D):c.3524C>T (p.Pro1175Leu)
|
rs2147477588
|
|
NM_000836.4(GRIN2D):c.3847C>T (p.Pro1283Ser)
|
|
|
NM_000836.4(GRIN2D):c.3910G>A (p.Gly1304Arg)
|
|
|
NM_000836.4(GRIN2D):c.3929C>T (p.Ala1310Val)
|
rs753854352
|
|
NM_000836.4(GRIN2D):c.3937C>T (p.Arg1313Trp)
|
rs2147478270
|
|
NM_000836.4(GRIN2D):c.3947G>T (p.Arg1316Leu)
|
rs544435291
|
|
NM_000836.4(GRIN2D):c.49CTG[5] (p.Leu20dup)
|
rs919633142
|
|
NM_000836.4(GRIN2D):c.4C>A (p.Arg2Ser)
|
|
|
NM_000836.4(GRIN2D):c.763C>G (p.Pro255Ala)
|
|
|
NM_000883.4(IMPDH1):c.*105T>A
|
rs886061983
|
|
NM_000883.4(IMPDH1):c.*130A>G
|
rs1797626715
|
|
NM_000883.4(IMPDH1):c.*137G>C
|
rs72624973
|
|
NM_000883.4(IMPDH1):c.*168G>A
|
rs531478376
|
|
NM_000883.4(IMPDH1):c.*202C>T
|
rs886061982
|
|
NM_000883.4(IMPDH1):c.*223C>A
|
rs543042380
|
|
NM_000883.4(IMPDH1):c.*223C>T
|
rs543042380
|
|
NM_000883.4(IMPDH1):c.*256T>C
|
rs752294619
|
|
NM_000883.4(IMPDH1):c.*321G>A
|
rs571536404
|
|
NM_000883.4(IMPDH1):c.*410G>A
|
rs530960760
|
|
NM_000883.4(IMPDH1):c.-17T>C
|
rs1799034671
|
|
NM_000883.4(IMPDH1):c.1075-3C>T
|
rs1797968829
|
|
NM_000883.4(IMPDH1):c.146+6G>T
|
rs1799017366
|
|
NM_000883.4(IMPDH1):c.1573G>T (p.Ala525Ser)
|
rs367951647
|
|
NM_000883.4(IMPDH1):c.1642G>A (p.Gly548Ser)
|
rs1312955440
|
|
NM_000883.4(IMPDH1):c.1695-11C>T
|
rs1797754885
|
|
NM_000883.4(IMPDH1):c.1704G>A (p.Met568Ile)
|
rs886061984
|
|
NM_000883.4(IMPDH1):c.424C>T (p.Arg142Trp)
|
rs376769056
|
|
NM_000883.4(IMPDH1):c.662G>A (p.Arg221Gln)
|
|
|
NM_000883.4(IMPDH1):c.694A>G (p.Thr232Ala)
|
rs979315605
|
|
NM_000883.4(IMPDH1):c.795G>A (p.Thr265=)
|
rs757423102
|
|
NM_000883.4(IMPDH1):c.936GAA[2] (p.Lys314del)
|
rs1554414710
|
|
NM_000883.4(IMPDH1):c.940A>G (p.Lys314Glu)
|
rs998758838
|
|
NM_001001563.5(TIMM50):c.44T>G (p.Leu15Arg)
|
|
|
NM_001001563.5(TIMM50):c.620G>T (p.Ser207Ile)
|
rs2079507347
|
|
NM_001001563.5(TIMM50):c.671G>T (p.Arg224Ile)
|
rs2079508089
|
|
NM_001002755.2(NFU1):c.-41C>T
|
rs775615702
|
|
NM_001002755.2(NFU1):c.-48G>A
|
rs886056268
|
|
NM_001002755.4(NFU1):c.-7G>A
|
rs1208588409
|
|
NM_001002755.4(NFU1):c.107C>T (p.Pro36Leu)
|
|
|
NM_001002755.4(NFU1):c.145C>A (p.Pro49Thr)
|
rs113707482
|
|
NM_001002755.4(NFU1):c.166+3A>G
|
|
|
NM_001002755.4(NFU1):c.199C>G (p.Pro67Ala)
|
|
|
NM_001002755.4(NFU1):c.283T>C (p.Phe95Leu)
|
|
|
NM_001002755.4(NFU1):c.287G>A (p.Arg96His)
|
rs774308958
|
|
NM_001002755.4(NFU1):c.290C>G (p.Ser97Cys)
|
|
|
NM_001002755.4(NFU1):c.302+3A>G
|
|
|
NM_001002755.4(NFU1):c.303-13dup
|
rs372898848
|
|
NM_001002755.4(NFU1):c.303-18T>G
|
|
|
NM_001002755.4(NFU1):c.332G>T (p.Ser111Ile)
|
rs756434076
|
|
NM_001002755.4(NFU1):c.359C>A (p.Thr120Asn)
|
|
|
NM_001002755.4(NFU1):c.369+4A>C
|
rs775249424
|
|
NM_001002755.4(NFU1):c.430T>G (p.Phe144Val)
|
|
|
NM_001002755.4(NFU1):c.495A>T (p.Glu165Asp)
|
rs886056266
|
|
NM_001002755.4(NFU1):c.497A>G (p.Asp166Gly)
|
rs757971255
|
|
NM_001002755.4(NFU1):c.498TGA[1] (p.Asp167del)
|
|
|
NM_001002755.4(NFU1):c.499G>A (p.Asp167Asn)
|
|
|
NM_001002755.4(NFU1):c.4G>A (p.Ala2Thr)
|
|
|
NM_001002755.4(NFU1):c.545G>T (p.Arg182Leu)
|
rs1281276965
|
|
NM_001002755.4(NFU1):c.546G>A (p.Arg182=)
|
|
|
NM_001002755.4(NFU1):c.581A>G (p.Tyr194Cys)
|
|
|
NM_001002755.4(NFU1):c.68G>A (p.Cys23Tyr)
|
|
|
NM_001002755.4(NFU1):c.697C>A (p.Pro233Thr)
|
|
|
NM_001002755.4(NFU1):c.733G>A (p.Glu245Lys)
|
|
|
NM_001002755.4(NFU1):c.84T>A (p.Asn28Lys)
|
rs1673654615
|
|
NM_001002755.4(NFU1):c.86C>T (p.Pro29Leu)
|
|
|
NM_001002755.4(NFU1):c.8C>G (p.Ala3Gly)
|
rs975310478
|
|
NM_001003841.3(SLC6A19):c.1003G>A (p.Asp335Asn)
|
rs147646554
|
|
NM_001003841.3(SLC6A19):c.1019A>T (p.Asn340Ile)
|
rs1373139216
|
|
NM_001003841.3(SLC6A19):c.1325C>A (p.Pro442His)
|
rs1286047743
|
|
NM_001003841.3(SLC6A19):c.1451T>C (p.Leu484Pro)
|
rs905741990
|
|
NM_001003841.3(SLC6A19):c.1463A>G (p.Tyr488Cys)
|
rs1554035332
|
|
NM_001003841.3(SLC6A19):c.640C>G (p.Arg214Gly)
|
rs201070872
|
|
NM_001003841.3(SLC6A19):c.712C>T (p.Leu238Phe)
|
rs901169831
|
|
NM_001003841.3(SLC6A19):c.767C>T (p.Thr256Met)
|
rs375879452
|
|
NM_001003841.3(SLC6A19):c.95G>A (p.Arg32Gln)
|
rs190631924
|
|
NM_001004334.4(GPR179):c.4835GAG[2] (p.Gly1614del)
|
rs767449258
|
|
NM_001010867.4(IBA57):c.1033G>A (p.Ala345Thr)
|
rs150912462
|
|
NM_001010867.4(IBA57):c.1033G>T (p.Ala345Ser)
|
rs150912462
|
|
NM_001010867.4(IBA57):c.1042C>G (p.Pro348Ala)
|
|
|
NM_001010867.4(IBA57):c.1055C>T (p.Pro352Leu)
|
|
|
NM_001010867.4(IBA57):c.1065del (p.Lys356fs)
|
rs2124977415
|
|
NM_001010867.4(IBA57):c.116G>A (p.Gly39Asp)
|
|
|
NM_001010867.4(IBA57):c.169A>G (p.Thr57Ala)
|
|
|
NM_001010867.4(IBA57):c.172C>G (p.Leu58Val)
|
|
|
NM_001010867.4(IBA57):c.173T>C (p.Leu58Pro)
|
|
|
NM_001010867.4(IBA57):c.215G>C (p.Gly72Ala)
|
rs1420144150
|
|
NM_001010867.4(IBA57):c.245G>C (p.Ser82Thr)
|
|
|
NM_001010867.4(IBA57):c.253_276del (p.Ala85_Ala92del)
|
|
|
NM_001010867.4(IBA57):c.269C>T (p.Pro90Leu)
|
|
|
NM_001010867.4(IBA57):c.26G>T (p.Gly9Val)
|
|
|
NM_001010867.4(IBA57):c.272C>G (p.Ala91Gly)
|
rs539907686
|
|
NM_001010867.4(IBA57):c.304G>A (p.Val102Met)
|
rs753218907
|
|
NM_001010867.4(IBA57):c.305T>C (p.Val102Ala)
|
rs759005478
|
|
NM_001010867.4(IBA57):c.316A>T (p.Thr106Ser)
|
|
|
NM_001010867.4(IBA57):c.319C>T (p.Leu107Phe)
|
|
|
NM_001010867.4(IBA57):c.31A>T (p.Thr11Ser)
|
rs2034839816
|
|
NM_001010867.4(IBA57):c.326A>G (p.Asp109Gly)
|
|
|
NM_001010867.4(IBA57):c.341+4A>C
|
|
|
NM_001010867.4(IBA57):c.342G>C (p.Gly114=)
|
|
|
NM_001010867.4(IBA57):c.354C>A (p.His118Gln)
|
rs1315886237
|
|
NM_001010867.4(IBA57):c.373C>T (p.Leu125Phe)
|
|
|
NM_001010867.4(IBA57):c.390C>G (p.Ser130Arg)
|
|
|
NM_001010867.4(IBA57):c.421_422delinsAG (p.Ala141Arg)
|
rs2124976596
|
|
NM_001010867.4(IBA57):c.434T>C (p.Ile145Thr)
|
rs2034983313
|
|
NM_001010867.4(IBA57):c.439C>T (p.Arg147Trp)
|
|
|
NM_001010867.4(IBA57):c.480_481dup (p.Ala161fs)
|
|
|
NM_001010867.4(IBA57):c.488T>C (p.Leu163Ser)
|
rs2124976694
|
|
NM_001010867.4(IBA57):c.493A>G (p.Ser165Gly)
|
|
|
NM_001010867.4(IBA57):c.494G>A (p.Ser165Asn)
|
|
|
NM_001010867.4(IBA57):c.506C>T (p.Ala169Val)
|
|
|
NM_001010867.4(IBA57):c.511G>A (p.Gly171Arg)
|
|
|
NM_001010867.4(IBA57):c.535G>T (p.Ala179Ser)
|
|
|
NM_001010867.4(IBA57):c.599C>G (p.Thr200Ser)
|
rs149136930
|
|
NM_001010867.4(IBA57):c.640G>A (p.Gly214Arg)
|
|
|
NM_001010867.4(IBA57):c.664C>G (p.His222Asp)
|
rs1131691510
|
|
NM_001010867.4(IBA57):c.668G>A (p.Arg223Gln)
|
|
|
NM_001010867.4(IBA57):c.682G>C (p.Val228Leu)
|
rs777266229
|
|
NM_001010867.4(IBA57):c.724C>T (p.Pro242Ser)
|
rs923591178
|
|
NM_001010867.4(IBA57):c.737A>G (p.Asn246Ser)
|
|
|
NM_001010867.4(IBA57):c.778T>C (p.Tyr260His)
|
|
|
NM_001010867.4(IBA57):c.781A>C (p.Ile261Leu)
|
|
|
NM_001010867.4(IBA57):c.790G>A (p.Glu264Lys)
|
|
|
NM_001010867.4(IBA57):c.79C>A (p.Pro27Thr)
|
|
|
NM_001010867.4(IBA57):c.802C>T (p.Arg268Cys)
|
rs1332185635
|
|
NM_001010867.4(IBA57):c.814A>G (p.Met272Val)
|
|
|
NM_001010867.4(IBA57):c.82A>G (p.Arg28Gly)
|
|
|
NM_001010867.4(IBA57):c.851T>C (p.Phe284Ser)
|
|
|
NM_001010867.4(IBA57):c.893C>T (p.Thr298Met)
|
rs375395876
|
|
NM_001010867.4(IBA57):c.89G>A (p.Arg30His)
|
rs2034841698
|
|
NM_001010867.4(IBA57):c.913C>T (p.Gln305Ter)
|
|
|
NM_001010867.4(IBA57):c.932G>C (p.Arg311Thr)
|
rs1377813001
|
|
NM_001010867.4(IBA57):c.935del (p.Ala312fs)
|
|
|
NM_001010867.4(IBA57):c.94G>A (p.Ala32Thr)
|
|
|
NM_001010867.4(IBA57):c.970T>G (p.Ser324Ala)
|
|
|
NM_001010867.4(IBA57):c.979A>T (p.Ile327Phe)
|
|
|
NM_001010867.4(IBA57):c.989C>G (p.Pro330Arg)
|
rs918873125
|
|
NM_001010881.2(C1orf167):c.3824G>A (p.Ser1275Asn)
|
rs371188005
|
|
NM_001010898.4(SLC6A17):c.351G>T (p.Glu117Asp)
|
|
|
NM_001010898.4(SLC6A17):c.374G>A (p.Arg125His)
|
|
|
NM_001010898.4(SLC6A17):c.852G>A (p.Met284Ile)
|
rs1188854712
|
|
NM_001010898.4(SLC6A17):c.895C>T (p.Arg299Trp)
|
|
|
NM_001012720.2(RGR):c.*386C>T
|
rs1842923502
|
|
NM_001012720.2(RGR):c.*494G>C
|
rs546408776
|
|
NM_001012720.2(RGR):c.*514T>C
|
rs1589338150
|
|
NM_001012720.2(RGR):c.358+1G>A
|
rs548051515
|
|
NM_001012720.2(RGR):c.359-15C>A
|
rs373630058
|
|
NM_001012720.2(RGR):c.679del (p.Tyr227fs)
|
rs1842908009
|
|
NM_001012720.2(RGR):c.750C>A (p.Pro250=)
|
rs748553756
|
|
NM_001017989.3(OPA3):c.221del (p.Gly74fs)
|
rs779350552
|
|
NM_001017989.3(OPA3):c.232G>T (p.Glu78Ter)
|
rs763348163
|
|
NM_001017989.3(OPA3):c.256G>T (p.Glu86Ter)
|
rs780614894
|
|
NM_001017989.3(OPA3):c.268_270del (p.Phe90del)
|
rs755084544
|
|
NM_001017989.3(OPA3):c.313C>T (p.Gln105Ter)
|
rs1225701554
|
|
NM_001017989.3(OPA3):c.343C>T (p.Arg115Ter)
|
rs762247018
|
|
NM_001017989.3(OPA3):c.380del (p.Gly127fs)
|
rs1555730165
|
|
NM_001017989.3(OPA3):c.436C>T (p.Gln146Ter)
|
rs1555730159
|
|
NM_001017989.3(OPA3):c.444_448del (p.Leu149fs)
|
rs1599947088
|
|
NM_001017989.3(OPA3):c.445del (p.Leu149fs)
|
rs780299639
|
|
NM_001017989.3(OPA3):c.448G>T (p.Glu150Ter)
|
rs1555730157
|
|
NM_001017989.3(OPA3):c.464_467dup (p.Gln157fs)
|
rs1599947052
|
|
NM_001017989.3(OPA3):c.535delinsAA (p.Glu179fs)
|
rs1555730141
|
|
NM_001017989.3(OPA3):c.541T>C (p.Ter181Gln)
|
rs1555730136
|
|
NM_001017989.3(OPA3):c.542A>G (p.Ter181Trp)
|
rs375580763
|
|
NM_001017989.3(OPA3):c.542_543del (p.Lys180_Ter181insTer)
|
rs1555730133
|
|
NM_001024845.3(SLC6A9):c.1003G>A (p.Val335Ile)
|
rs149105213
|
|
NM_001024845.3(SLC6A9):c.1007A>G (p.Tyr336Cys)
|
|
|
NM_001024845.3(SLC6A9):c.1028C>T (p.Ser343Phe)
|
|
|
NM_001024845.3(SLC6A9):c.1060G>A (p.Val354Met)
|
|
|
NM_001024845.3(SLC6A9):c.1119G>A (p.Glu373=)
|
rs2154304521
|
|
NM_001024845.3(SLC6A9):c.1200+5G>A
|
|
|
NM_001024845.3(SLC6A9):c.1244T>C (p.Val415Ala)
|
|
|
NM_001024845.3(SLC6A9):c.133G>A (p.Val45Met)
|
|
|
NM_001024845.3(SLC6A9):c.1434C>T (p.Tyr478=)
|
|
|
NM_001024845.3(SLC6A9):c.1435G>A (p.Gly479Arg)
|
rs1557668170
|
|
NM_001024845.3(SLC6A9):c.1525_1526del (p.Ala509fs)
|
rs749973223
|
|
NM_001024845.3(SLC6A9):c.1602C>T (p.Gly534=)
|
rs2085936509
|
|
NM_001024845.3(SLC6A9):c.1682G>A (p.Arg561His)
|
|
|
NM_001024845.3(SLC6A9):c.1702C>T (p.Leu568Phe)
|
rs2154304007
|
|
NM_001024845.3(SLC6A9):c.1787C>T (p.Thr596Ile)
|
|
|
NM_001024845.3(SLC6A9):c.1820T>A (p.Val607Asp)
|
|
|
NM_001024845.3(SLC6A9):c.1820T>G (p.Val607Gly)
|
|
|
NM_001024845.3(SLC6A9):c.1862G>A (p.Gly621Asp)
|
|
|
NM_001024845.3(SLC6A9):c.1865G>T (p.Ser622Ile)
|
|
|
NM_001024845.3(SLC6A9):c.1871_1877del (p.Gly624fs)
|
|
|
NM_001024845.3(SLC6A9):c.188-7C>G
|
|
|
NM_001024845.3(SLC6A9):c.1891T>G (p.Ser631Ala)
|
|
|
NM_001024845.3(SLC6A9):c.1894C>T (p.Arg632Trp)
|
|
|
NM_001024845.3(SLC6A9):c.220A>G (p.Ile74Val)
|
|
|
NM_001024845.3(SLC6A9):c.229G>A (p.Gly77Arg)
|
rs200456440
|
|
NM_001024845.3(SLC6A9):c.250G>A (p.Glu84Lys)
|
|
|
NM_001024845.3(SLC6A9):c.31-6206G>A
|
|
|
NM_001024845.3(SLC6A9):c.31-6212A>G
|
|
|
NM_001024845.3(SLC6A9):c.31-6218C>T
|
|
|
NM_001024845.3(SLC6A9):c.31-6221G>A
|
|
|
NM_001024845.3(SLC6A9):c.31-6241del
|
rs1460786911
|
|
NM_001024845.3(SLC6A9):c.31-6251A>G
|
rs1450790373
|
|
NM_001024845.3(SLC6A9):c.31-674G>A
|
|
|
NM_001024845.3(SLC6A9):c.31-676C>G
|
|
|
NM_001024845.3(SLC6A9):c.31-683C>G
|
|
|
NM_001024845.3(SLC6A9):c.31-717C>G
|
rs1321050627
|
|
NM_001024845.3(SLC6A9):c.31-731A>C
|
rs746124622
|
|
NM_001024845.3(SLC6A9):c.31-765G>C
|
|
|
NM_001024845.3(SLC6A9):c.31-821A>G
|
|
|
NM_001024845.3(SLC6A9):c.31-825G>A
|
|
|
NM_001024845.3(SLC6A9):c.329A>G (p.Tyr110Cys)
|
|
|
NM_001024845.3(SLC6A9):c.361A>G (p.Ile121Val)
|
|
|
NM_001024845.3(SLC6A9):c.449C>T (p.Pro150Leu)
|
|
|
NM_001024845.3(SLC6A9):c.458C>T (p.Thr153Met)
|
|
|
NM_001024845.3(SLC6A9):c.484G>T (p.Ala162Ser)
|
rs200984575
|
|
NM_001024845.3(SLC6A9):c.492C>A (p.Asn164Lys)
|
|
|
NM_001024845.3(SLC6A9):c.49G>A (p.Glu17Lys)
|
|
|
NM_001024845.3(SLC6A9):c.508C>G (p.Arg170Gly)
|
rs774340135
|
|
NM_001024845.3(SLC6A9):c.579G>C (p.Glu193Asp)
|
|
|
NM_001024845.3(SLC6A9):c.622G>A (p.Gly208Arg)
|
|
|
NM_001024845.3(SLC6A9):c.629T>C (p.Phe210Ser)
|
|
|
NM_001024845.3(SLC6A9):c.641G>T (p.Arg214Leu)
|
rs201950352
|
|
NM_001024845.3(SLC6A9):c.64G>A (p.Asp22Asn)
|
rs2086539962
|
|
NM_001024845.3(SLC6A9):c.737C>T (p.Thr246Met)
|
|
|
NM_001024845.3(SLC6A9):c.779G>A (p.Arg260His)
|
|
|
NM_001029883.3(PCARE):c.*1703A>G
|
rs1667337424
|
|
NM_001029883.3(PCARE):c.*1933G>C
|
rs1667333583
|
|
NM_001029883.3(PCARE):c.*2066A>G
|
rs1667329985
|
|
NM_001029883.3(PCARE):c.*2441C>A
|
rs551398169
|
|
NM_001029883.3(PCARE):c.*2652T>C
|
rs539485807
|
|
NM_001029883.3(PCARE):c.*2763A>G
|
rs886055912
|
|
NM_001029883.3(PCARE):c.*412C>T
|
rs531692702
|
|
NM_001029883.3(PCARE):c.*953G>A
|
rs1667348222
|
|
NM_001029883.3(PCARE):c.1471G>A (p.Glu491Lys)
|
rs528670230
|
|
NM_001029883.3(PCARE):c.1582C>A (p.Arg528Ser)
|
rs80151896
|
|
NM_001029883.3(PCARE):c.1762C>T (p.Pro588Ser)
|
rs886055922
|
|
NM_001029883.3(PCARE):c.2185A>G (p.Thr729Ala)
|
|
|
NM_001029883.3(PCARE):c.21C>A (p.His7Gln)
|
rs746892215
|
|
NM_001029883.3(PCARE):c.2243G>C (p.Gly748Ala)
|
rs1381872170
|
|
NM_001029883.3(PCARE):c.2530G>C (p.Ala844Pro)
|
rs370203821
|
|
NM_001029883.3(PCARE):c.2709T>G (p.Pro903=)
|
rs1258874690
|
|
NM_001029883.3(PCARE):c.2938C>T (p.Pro980Ser)
|
rs2148415249
|
|
NM_001029883.3(PCARE):c.293C>T (p.Thr98Ile)
|
rs1667544030
|
|
NM_001029883.3(PCARE):c.2965C>A (p.Pro989Thr)
|
rs184281410
|
|
NM_001029883.3(PCARE):c.2965C>G (p.Pro989Ala)
|
rs184281410
|
|
NM_001029883.3(PCARE):c.3090dup (p.Ser1031fs)
|
rs1558488002
|
|
NM_001029883.3(PCARE):c.3177T>C (p.Pro1059=)
|
rs794726892
|
|
NM_001029883.3(PCARE):c.3356C>T (p.Thr1119Ile)
|
rs1667463778
|
|
NM_001029883.3(PCARE):c.3652C>T (p.Gln1218Ter)
|
rs1558487417
|
|
NM_001029883.3(PCARE):c.3658G>A (p.Gly1220Ser)
|
rs554321432
|
|
NM_001029883.3(PCARE):c.3712A>C (p.Ser1238Arg)
|
rs1667371060
|
|
NM_001029883.3(PCARE):c.3722C>T (p.Ser1241Phe)
|
rs78471512
|
|
NM_001029883.3(PCARE):c.537T>C (p.Pro179=)
|
rs201965800
|
|
NM_001029883.3(PCARE):c.8G>A (p.Cys3Tyr)
|
rs1420546201
|
|
NM_001031710.3(KLHL7):c.*201G>A
|
rs781364081
|
|
NM_001031710.3(KLHL7):c.422T>C (p.Val141Ala)
|
rs1554286384
|
|
NM_001031710.3(KLHL7):c.433A>G (p.Asn145Asp)
|
rs1182983579
|
|
NM_001031710.3(KLHL7):c.451G>T (p.Val151Leu)
|
rs1784155928
|
|
NM_001031710.3(KLHL7):c.616C>T (p.Gln206Ter)
|
rs1562571985
|
|
NM_001034853.2(RPGR):c.1481G>T (p.Gly494Val)
|
rs2147212880
|
|
NM_001034853.2(RPGR):c.1506+4del
|
rs2067276668
|
|
NM_001034853.2(RPGR):c.1754-3C>G
|
rs2147201026
|
|
NM_001034853.2(RPGR):c.200TAGGAT[1] (p.67LG[1])
|
rs2067975228
|
|
NM_001034853.2(RPGR):c.2455_2468dup (p.Lys823_Gly824insTer)
|
rs2147197604
|
|
NM_001034853.2(RPGR):c.247G>A (p.Ala83Thr)
|
rs2067974263
|
|
NM_001034853.2(RPGR):c.248-28_248-10del
|
rs1569260656
|
|
NM_001034853.2(RPGR):c.2586_2587del (p.Glu863fs)
|
rs2067170858
|
|
NM_001034853.2(RPGR):c.2587G>T (p.Glu863Ter)
|
rs2147196529
|
|
NM_001034853.2(RPGR):c.2691GGA[1] (p.Glu899del)
|
rs745428229
|
|
NM_001034853.2(RPGR):c.2697AGGAGAAGGGGAGGGAGAAGAGGA[3] (p.900GEGEGEEE[3])
|
rs757402645
|
|
NM_001034853.2(RPGR):c.2761G>C (p.Gly921Arg)
|
rs2067157510
|
|
NM_001034853.2(RPGR):c.2821G>T (p.Gly941Trp)
|
rs763102799
|
|
NM_001034853.2(RPGR):c.2930G>T (p.Gly977Val)
|
rs1234506102
|
|
NM_001034853.2(RPGR):c.310G>A (p.Glu104Lys)
|
rs1601978823
|
|
NM_001034853.2(RPGR):c.322_324del (p.Val108del)
|
rs2067878524
|
|
NM_001034853.2(RPGR):c.40G>A (p.Val14Met)
|
|
|
NM_001034853.2(RPGR):c.457G>A (p.Ala153Thr)
|
rs2067875526
|
|
NM_001034853.2(RPGR):c.492G>T (p.Trp164Cys)
|
rs62638648
|
|
NM_001034853.2(RPGR):c.619+4A>G
|
rs2067844549
|
|
NM_001034853.2(RPGR):c.778+3A>T
|
rs1218824822
|
|
NM_001034853.2(RPGR):c.920C>A (p.Thr307Lys)
|
rs2147247612
|
|
NM_001042432.2(CLN3):c.534G>C (p.Arg178Ser)
|
rs756640405
|
|
NM_001042432.2(CLN3):c.611A>C (p.Gln204Pro)
|
rs2141712276
|
|
NM_001077620.3(PRCD):c.*1002G>A
|
rs1229301103
|
|
NM_001077620.3(PRCD):c.*1247C>A
|
rs886053480
|
|
NM_001077620.3(PRCD):c.*1268C>A
|
rs572748485
|
|
NM_001077620.3(PRCD):c.*1714C>T
|
rs886053482
|
|
NM_001077620.3(PRCD):c.*241G>A
|
rs1361539486
|
|
NM_001077620.3(PRCD):c.*248A>G
|
rs886053475
|
|
NM_001077620.3(PRCD):c.*590C>A
|
rs144319284
|
|
NM_001077620.3(PRCD):c.*643C>T
|
rs745814897
|
|
NM_001077620.3(PRCD):c.114C>T (p.Ser38=)
|
rs2074979029
|
|
NM_001077620.3(PRCD):c.2T>C (p.Met1Thr)
|
rs527236092
|
|
NM_001077620.3(PRCD):c.75-10C>A
|
rs886053474
|
|
NM_001077620.3(PRCD):c.85G>C (p.Asp29His)
|
rs372084413
|
|
NM_001080.3(ALDH5A1):c.*1322C>T
|
rs886061276
|
|
NM_001080.3(ALDH5A1):c.*1531A>G
|
rs886061277
|
|
NM_001080.3(ALDH5A1):c.*1537G>C
|
rs1760023694
|
|
NM_001080.3(ALDH5A1):c.*2128A>G
|
rs1407401466
|
|
NM_001080.3(ALDH5A1):c.*2264G>T
|
rs1760039816
|
|
NM_001080.3(ALDH5A1):c.*2449A>G
|
rs886061279
|
|
NM_001080.3(ALDH5A1):c.*2788C>G
|
rs1174814411
|
|
NM_001080.3(ALDH5A1):c.*3253C>T
|
rs552086179
|
|
NM_001080.3(ALDH5A1):c.*56C>T
|
rs182998380
|
|
NM_001080.3(ALDH5A1):c.*652_*655del
|
rs779688377
|
|
NM_001080.3(ALDH5A1):c.*659T>C
|
rs886061271
|
|
NM_001080.3(ALDH5A1):c.1001G>T (p.Arg334Met)
|
|
|
NM_001080.3(ALDH5A1):c.1015-3C>G
|
rs2127387935
|
|
NM_001080.3(ALDH5A1):c.1019G>C (p.Cys340Ser)
|
rs1365441831
|
|
NM_001080.3(ALDH5A1):c.101C>T (p.Ala34Val)
|
|
|
NM_001080.3(ALDH5A1):c.1020T>G (p.Cys340Trp)
|
rs887448536
|
|
NM_001080.3(ALDH5A1):c.104C>G (p.Ser35Cys)
|
|
|
NM_001080.3(ALDH5A1):c.1064C>T (p.Ala355Val)
|
|
|
NM_001080.3(ALDH5A1):c.1080C>G (p.Phe360Leu)
|
rs571602201
|
|
NM_001080.3(ALDH5A1):c.1091T>C (p.Met364Thr)
|
rs2127387964
|
|
NM_001080.3(ALDH5A1):c.109C>T (p.Pro37Ser)
|
|
|
NM_001080.3(ALDH5A1):c.1120T>G (p.Phe374Val)
|
rs1561876817
|
|
NM_001080.3(ALDH5A1):c.1163C>A (p.Ala388Glu)
|
|
|
NM_001080.3(ALDH5A1):c.1165G>A (p.Val389Ile)
|
|
|
NM_001080.3(ALDH5A1):c.1243C>A (p.Leu415Ile)
|
rs1581824124
|
|
NM_001080.3(ALDH5A1):c.1247G>A (p.Gly416Glu)
|
|
|
NM_001080.3(ALDH5A1):c.1267A>G (p.Thr423Ala)
|
|
|
NM_001080.3(ALDH5A1):c.1289A>G (p.Gln430Arg)
|
|
|
NM_001080.3(ALDH5A1):c.1294A>G (p.Met432Val)
|
rs1561879315
|
|
NM_001080.3(ALDH5A1):c.1298T>G (p.Leu433Arg)
|
rs1759857234
|
|
NM_001080.3(ALDH5A1):c.1319T>C (p.Phe440Ser)
|
rs1759858234
|
|
NM_001080.3(ALDH5A1):c.1324C>T (p.Pro442Ser)
|
rs750638943
|
|
NM_001080.3(ALDH5A1):c.1325C>G (p.Pro442Arg)
|
rs2127389566
|
|
NM_001080.3(ALDH5A1):c.1343+1del
|
rs1561879386
|
|
NM_001080.3(ALDH5A1):c.1343+4A>G
|
rs1554137990
|
|
NM_001080.3(ALDH5A1):c.1344-3C>T
|
|
|
NM_001080.3(ALDH5A1):c.1350T>A (p.Asp450Glu)
|
rs913676708
|
|
NM_001080.3(ALDH5A1):c.1351A>G (p.Thr451Ala)
|
|
|
NM_001080.3(ALDH5A1):c.1355AGG[2] (p.Glu454del)
|
rs1759948859
|
|
NM_001080.3(ALDH5A1):c.136T>C (p.Cys46Arg)
|
rs2127378931
|
|
NM_001080.3(ALDH5A1):c.1375G>A (p.Ala459Thr)
|
rs749276622
|
|
NM_001080.3(ALDH5A1):c.1375G>T (p.Ala459Ser)
|
rs749276622
|
|
NM_001080.3(ALDH5A1):c.1390G>A (p.Val464Ile)
|
|
|
NM_001080.3(ALDH5A1):c.1391T>C (p.Val464Ala)
|
rs1243219538
|
|
NM_001080.3(ALDH5A1):c.142G>T (p.Ala48Ser)
|
|
|
NM_001080.3(ALDH5A1):c.1432A>T (p.Ile478Phe)
|
|
|
NM_001080.3(ALDH5A1):c.1456G>C (p.Glu486Gln)
|
rs1759977925
|
|
NM_001080.3(ALDH5A1):c.1462G>T (p.Gly488Cys)
|
rs1161171083
|
|
NM_001080.3(ALDH5A1):c.1465A>G (p.Met489Val)
|
|
|
NM_001080.3(ALDH5A1):c.1475T>C (p.Val492Ala)
|
rs2127391187
|
|
NM_001080.3(ALDH5A1):c.1498G>C (p.Val500Leu)
|
rs999671766
|
|
NM_001080.3(ALDH5A1):c.1501G>C (p.Glu501Gln)
|
|
|
NM_001080.3(ALDH5A1):c.1514G>A (p.Gly505Asp)
|
rs1449304427
|
|
NM_001080.3(ALDH5A1):c.1529C>T (p.Ser510Phe)
|
rs578023593
|
|
NM_001080.3(ALDH5A1):c.1550C>G (p.Ser517Cys)
|
|
|
NM_001080.3(ALDH5A1):c.1562T>C (p.Ile521Thr)
|
rs1475837931
|
|
NM_001080.3(ALDH5A1):c.1579C>T (p.Leu527Phe)
|
|
|
NM_001080.3(ALDH5A1):c.1580T>C (p.Leu527Pro)
|
rs1467346651
|
|
NM_001080.3(ALDH5A1):c.1588G>A (p.Val530Met)
|
|
|
NM_001080.3(ALDH5A1):c.1591T>C (p.Cys531Arg)
|
rs2127391249
|
|
NM_001080.3(ALDH5A1):c.1603T>A (p.Leu535Met)
|
|
|
NM_001080.3(ALDH5A1):c.1607A>T (p.Ter536Leu)
|
rs1338198433
|
|
NM_001080.3(ALDH5A1):c.161_163dup (p.Leu54_Ser55insPhe)
|
|
|
NM_001080.3(ALDH5A1):c.166G>C (p.Ala56Pro)
|
rs2127378973
|
|
NM_001080.3(ALDH5A1):c.176T>G (p.Leu59Arg)
|
rs1001493071
|
|
NM_001080.3(ALDH5A1):c.183C>A (p.Thr61=)
|
rs776791710
|
|
NM_001080.3(ALDH5A1):c.205T>C (p.Trp69Arg)
|
rs1333816263
|
|
NM_001080.3(ALDH5A1):c.208C>A (p.Leu70Ile)
|
rs886061268
|
|
NM_001080.3(ALDH5A1):c.208C>G (p.Leu70Val)
|
rs886061268
|
|
NM_001080.3(ALDH5A1):c.232G>A (p.Val78Met)
|
rs1001529759
|
|
NM_001080.3(ALDH5A1):c.244G>A (p.Ala82Thr)
|
|
|
NM_001080.3(ALDH5A1):c.250G>A (p.Gly84Ser)
|
rs1034294766
|
|
NM_001080.3(ALDH5A1):c.250G>C (p.Gly84Arg)
|
rs1034294766
|
|
NM_001080.3(ALDH5A1):c.269T>C (p.Val90Ala)
|
|
|
NM_001080.3(ALDH5A1):c.274G>A (p.Asp92Asn)
|
|
|
NM_001080.3(ALDH5A1):c.27C>G (p.Ser9Arg)
|
|
|
NM_001080.3(ALDH5A1):c.280G>T (p.Gly94Trp)
|
rs1764672993
|
|
NM_001080.3(ALDH5A1):c.28T>A (p.Cys10Ser)
|
rs1011665766
|
|
NM_001080.3(ALDH5A1):c.291G>C (p.Glu97Asp)
|
rs973569793
|
|
NM_001080.3(ALDH5A1):c.2T>C (p.Met1Thr)
|
|
|
NM_001080.3(ALDH5A1):c.300_311del (p.Val102_Ala105del)
|
rs1283990436
|
|
NM_001080.3(ALDH5A1):c.304G>A (p.Val102Met)
|
rs1444935451
|
|
NM_001080.3(ALDH5A1):c.304G>C (p.Val102Leu)
|
rs1444935451
|
|
NM_001080.3(ALDH5A1):c.307C>G (p.Arg103Gly)
|
|
|
NM_001080.3(ALDH5A1):c.320A>G (p.Glu107Gly)
|
|
|
NM_001080.3(ALDH5A1):c.331C>A (p.Arg111Ser)
|
|
|
NM_001080.3(ALDH5A1):c.338G>A (p.Arg113Lys)
|
rs1581801085
|
|
NM_001080.3(ALDH5A1):c.341A>C (p.Glu114Ala)
|
|
|
NM_001080.3(ALDH5A1):c.341A>G (p.Glu114Gly)
|
rs1370936799
|
|
NM_001080.3(ALDH5A1):c.355-3C>T
|
rs1759217851
|
|
NM_001080.3(ALDH5A1):c.373C>T (p.Arg125Trp)
|
rs201082048
|
|
NM_001080.3(ALDH5A1):c.377A>G (p.Lys126Arg)
|
rs1759219662
|
|
NM_001080.3(ALDH5A1):c.37C>T (p.Arg13Trp)
|
rs766443938
|
|
NM_001080.3(ALDH5A1):c.410A>T (p.Asp137Val)
|
rs2127382180
|
|
NM_001080.3(ALDH5A1):c.44T>G (p.Leu15Arg)
|
rs535285968
|
|
NM_001080.3(ALDH5A1):c.454G>C (p.Glu152Gln)
|
|
|
NM_001080.3(ALDH5A1):c.460C>T (p.His154Tyr)
|
rs2127382406
|
|
NM_001080.3(ALDH5A1):c.464G>A (p.Gly155Glu)
|
rs1554136421
|
|
NM_001080.3(ALDH5A1):c.46G>A (p.Gly16Arg)
|
rs1224797369
|
|
NM_001080.3(ALDH5A1):c.46G>C (p.Gly16Arg)
|
|
|
NM_001080.3(ALDH5A1):c.479C>T (p.Ser160Phe)
|
|
|
NM_001080.3(ALDH5A1):c.518G>C (p.Arg173Pro)
|
|
|
NM_001080.3(ALDH5A1):c.518G>T (p.Arg173Leu)
|
rs369366567
|
|
NM_001080.3(ALDH5A1):c.523T>C (p.Tyr175His)
|
|
|
NM_001080.3(ALDH5A1):c.535A>G (p.Ile179Val)
|
rs1759245914
|
|
NM_001080.3(ALDH5A1):c.539A>G (p.His180Arg)
|
|
|
NM_001080.3(ALDH5A1):c.544_545delinsGT (p.Pro182Val)
|
rs2127382457
|
|
NM_001080.3(ALDH5A1):c.562G>A (p.Ala188Thr)
|
rs1287321413
|
|
NM_001080.3(ALDH5A1):c.56T>C (p.Phe19Ser)
|
|
|
NM_001080.3(ALDH5A1):c.58C>G (p.Pro20Ala)
|
rs1561865558
|
|
NM_001080.3(ALDH5A1):c.5C>T (p.Ala2Val)
|
|
|
NM_001080.3(ALDH5A1):c.610-17T>A
|
|
|
NM_001080.3(ALDH5A1):c.625G>A (p.Ala209Thr)
|
|
|
NM_001080.3(ALDH5A1):c.637C>T (p.Arg213Trp)
|
|
|
NM_001080.3(ALDH5A1):c.638G>A (p.Arg213Gln)
|
|
|
NM_001080.3(ALDH5A1):c.643G>A (p.Val215Met)
|
|
|
NM_001080.3(ALDH5A1):c.671C>A (p.Thr224Asn)
|
rs2127382947
|
|
NM_001080.3(ALDH5A1):c.676G>C (p.Val226Leu)
|
|
|
NM_001080.3(ALDH5A1):c.676G>T (p.Val226Leu)
|
rs770884090
|
|
NM_001080.3(ALDH5A1):c.685C>A (p.Pro229Thr)
|
|
|
NM_001080.3(ALDH5A1):c.718C>G (p.Leu240Val)
|
rs1759310167
|
|
NM_001080.3(ALDH5A1):c.71_76dup (p.Leu24_Arg25dup)
|
rs2127378831
|
|
NM_001080.3(ALDH5A1):c.726+7_726+8delinsAA
|
|
|
NM_001080.3(ALDH5A1):c.73C>G (p.Arg25Gly)
|
|
|
NM_001080.3(ALDH5A1):c.758T>C (p.Val253Ala)
|
rs1201676111
|
|
NM_001080.3(ALDH5A1):c.760T>C (p.Tyr254His)
|
rs2127385849
|
|
NM_001080.3(ALDH5A1):c.761A>G (p.Tyr254Cys)
|
rs749228768
|
|
NM_001080.3(ALDH5A1):c.763A>C (p.Asn255His)
|
rs2127385854
|
|
NM_001080.3(ALDH5A1):c.782G>A (p.Arg261Gln)
|
rs772361710
|
|
NM_001080.3(ALDH5A1):c.799G>T (p.Val267Leu)
|
rs1759546145
|
|
NM_001080.3(ALDH5A1):c.79C>T (p.Arg27Cys)
|
rs779798309
|
|
NM_001080.3(ALDH5A1):c.80G>A (p.Arg27His)
|
rs749120771
|
|
NM_001080.3(ALDH5A1):c.820G>C (p.Asp274His)
|
|
|
NM_001080.3(ALDH5A1):c.826C>G (p.Leu276Val)
|
|
|
NM_001080.3(ALDH5A1):c.82G>A (p.Ala28Thr)
|
rs1227540131
|
|
NM_001080.3(ALDH5A1):c.844T>G (p.Phe282Val)
|
rs2127385891
|
|
NM_001080.3(ALDH5A1):c.85G>A (p.Gly29Ser)
|
|
|
NM_001080.3(ALDH5A1):c.86G>A (p.Gly29Asp)
|
rs768533338
|
|
NM_001080.3(ALDH5A1):c.86G>C (p.Gly29Ala)
|
rs768533338
|
|
NM_001080.3(ALDH5A1):c.870+4T>A
|
rs1447034711
|
|
NM_001080.3(ALDH5A1):c.881A>C (p.His294Pro)
|
rs771163119
|
|
NM_001080.3(ALDH5A1):c.88G>T (p.Gly30Cys)
|
rs1171926592
|
|
NM_001080.3(ALDH5A1):c.896C>A (p.Ser299Tyr)
|
rs2127387282
|
|
NM_001080.3(ALDH5A1):c.913A>G (p.Met305Val)
|
|
|
NM_001080.3(ALDH5A1):c.929T>G (p.Leu310Arg)
|
|
|
NM_001080.3(ALDH5A1):c.932C>G (p.Ala311Gly)
|
rs752467613
|
|
NM_001080.3(ALDH5A1):c.934C>G (p.Pro312Ala)
|
|
|
NM_001080.3(ALDH5A1):c.943G>A (p.Val315Ile)
|
|
|
NM_001080.3(ALDH5A1):c.948T>G (p.Phe316Leu)
|
rs1172837609
|
|
NM_001080.3(ALDH5A1):c.959A>G (p.Asn320Ser)
|
rs570262377
|
|
NM_001080.3(ALDH5A1):c.971C>T (p.Ala324Val)
|
rs1759659944
|
|
NM_001080.3(ALDH5A1):c.97C>T (p.Pro33Ser)
|
|
|
NM_001080.3(ALDH5A1):c.983C>T (p.Ala328Val)
|
rs1043375819
|
|
NM_001080.3(ALDH5A1):c.985A>G (p.Met329Val)
|
rs1581818516
|
|
NM_001080.3(ALDH5A1):c.98C>T (p.Pro33Leu)
|
|
|
NM_001080442.3(SLC38A8):c.1214+1G>T
|
|
|
NM_001080442.3(SLC38A8):c.589C>T (p.Leu197Phe)
|
|
|
NM_001080442.3(SLC38A8):c.682G>C (p.Gly228Arg)
|
|
|
NM_001080442.3(SLC38A8):c.794A>G (p.Tyr265Cys)
|
|
|
NM_001081.4(CUBN):c.*177C>G
|
rs886046860
|
|
NM_001081.4(CUBN):c.*267A>T
|
rs1203238498
|
|
NM_001081.4(CUBN):c.*304G>T
|
rs2131292535
|
|
NM_001081.4(CUBN):c.*329C>G
|
rs376727720
|
|
NM_001081.4(CUBN):c.*329C>T
|
rs376727720
|
|
NM_001081.4(CUBN):c.*453A>G
|
rs1838716540
|
|
NM_001081.4(CUBN):c.*460C>A
|
rs1588559715
|
|
NM_001081.4(CUBN):c.*514T>G
|
rs886046854
|
|
NM_001081.4(CUBN):c.*794A>G
|
rs886046852
|
|
NM_001081.4(CUBN):c.*883G>A
|
rs886046851
|
|
NM_001081.4(CUBN):c.10077G>C (p.Ser3359=)
|
rs147563157
|
|
NM_001081.4(CUBN):c.10143C>G (p.Asn3381Lys)
|
rs1839164438
|
|
NM_001081.4(CUBN):c.1036G>C (p.Val346Leu)
|
rs886046879
|
|
NM_001081.4(CUBN):c.10466T>G (p.Phe3489Cys)
|
rs886046863
|
|
NM_001081.4(CUBN):c.10728C>G (p.Asn3576Lys)
|
rs368511477
|
|
NM_001081.4(CUBN):c.10729G>T (p.Ala3577Ser)
|
rs139051724
|
|
NM_001081.4(CUBN):c.10742C>T (p.Ser3581Phe)
|
rs2131299558
|
|
NM_001081.4(CUBN):c.10752A>T (p.Pro3584=)
|
rs886046862
|
|
NM_001081.4(CUBN):c.10777G>A (p.Ala3593Thr)
|
rs1838734881
|
|
NM_001081.4(CUBN):c.10846G>A (p.Ala3616Thr)
|
rs564429505
|
|
NM_001081.4(CUBN):c.1405G>C (p.Val469Leu)
|
rs780440368
|
|
NM_001081.4(CUBN):c.1837G>C (p.Gly613Arg)
|
rs2131869531
|
|
NM_001081.4(CUBN):c.2110+10C>G
|
rs752409034
|
|
NM_001081.4(CUBN):c.2110T>G (p.Ser704Ala)
|
rs2131865310
|
|
NM_001081.4(CUBN):c.2151T>C (p.Gly717=)
|
rs1836053318
|
|
NM_001081.4(CUBN):c.2446G>A (p.Ala816Thr)
|
|
|
NM_001081.4(CUBN):c.2447-15T>A
|
rs886046877
|
|
NM_001081.4(CUBN):c.2673C>T (p.Cys891=)
|
rs386833778
|
|
NM_001081.4(CUBN):c.2791G>A (p.Ala931Thr)
|
rs1042319182
|
|
NM_001081.4(CUBN):c.2839G>T (p.Gly947Cys)
|
rs2131844929
|
|
NM_001081.4(CUBN):c.3551C>G (p.Pro1184Arg)
|
rs886046876
|
|
NM_001081.4(CUBN):c.3604G>A (p.Ala1202Thr)
|
rs141740096
|
|
NM_001081.4(CUBN):c.3604G>T (p.Ala1202Ser)
|
rs141740096
|
|
NM_001081.4(CUBN):c.3605C>T (p.Ala1202Val)
|
rs1835097031
|
|
NM_001081.4(CUBN):c.3823C>T (p.Arg1275Trp)
|
rs189294363
|
|
NM_001081.4(CUBN):c.3928A>G (p.Ile1310Val)
|
rs1325181765
|
|
NM_001081.4(CUBN):c.3931C>T (p.Arg1311Trp)
|
rs776683073
|
|
NM_001081.4(CUBN):c.4020C>G (p.Leu1340=)
|
rs769326338
|
|
NM_001081.4(CUBN):c.4069C>G (p.Pro1357Ala)
|
rs780012075
|
|
NM_001081.4(CUBN):c.409A>C (p.Ser137Arg)
|
rs202053511
|
|
NM_001081.4(CUBN):c.4350+5G>A
|
rs200324164
|
|
NM_001081.4(CUBN):c.4633A>C (p.Asn1545His)
|
rs1391948790
|
|
NM_001081.4(CUBN):c.4720A>G (p.Met1574Val)
|
rs1482983523
|
|
NM_001081.4(CUBN):c.489+14T>C
|
rs886046882
|
|
NM_001081.4(CUBN):c.4934A>G (p.Gln1645Arg)
|
rs1243565121
|
|
NM_001081.4(CUBN):c.5222C>A (p.Thr1741Lys)
|
rs144943516
|
|
NM_001081.4(CUBN):c.5285T>G (p.Val1762Gly)
|
rs149164899
|
|
NM_001081.4(CUBN):c.5302A>G (p.Ile1768Val)
|
rs779378713
|
|
NM_001081.4(CUBN):c.5305G>C (p.Val1769Leu)
|
rs74116778
|
|
NM_001081.4(CUBN):c.5343-11C>T
|
rs777975604
|
|
NM_001081.4(CUBN):c.5343-6A>G
|
rs776579478
|
|
NM_001081.4(CUBN):c.5569G>A (p.Val1857Met)
|
rs886046873
|
|
NM_001081.4(CUBN):c.5580T>A (p.His1860Gln)
|
rs980358703
|
|
NM_001081.4(CUBN):c.5597C>T (p.Pro1866Leu)
|
rs376970710
|
|
NM_001081.4(CUBN):c.5840C>A (p.Ser1947Tyr)
|
rs147617753
|
|
NM_001081.4(CUBN):c.5961A>G (p.Ala1987=)
|
rs886046872
|
|
NM_001081.4(CUBN):c.5965G>A (p.Val1989Met)
|
rs368951850
|
|
NM_001081.4(CUBN):c.6145C>A (p.Gln2049Lys)
|
rs141319759
|
|
NM_001081.4(CUBN):c.6254A>G (p.Asn2085Ser)
|
rs569527072
|
|
NM_001081.4(CUBN):c.6833A>G (p.Asn2278Ser)
|
rs942411004
|
|
NM_001081.4(CUBN):c.7397C>G (p.Pro2466Arg)
|
rs1184270888
|
|
NM_001081.4(CUBN):c.7406C>T (p.Pro2469Leu)
|
rs202229367
|
|
NM_001081.4(CUBN):c.7586G>A (p.Ser2529Asn)
|
rs886046868
|
|
NM_001081.4(CUBN):c.7798G>A (p.Glu2600Lys)
|
rs766806038
|
|
NM_001081.4(CUBN):c.7816C>A (p.Pro2606Thr)
|
rs886046867
|
|
NM_001081.4(CUBN):c.7916A>T (p.Asp2639Val)
|
rs2131430542
|
|
NM_001081.4(CUBN):c.8219C>A (p.Thr2740Lys)
|
rs2131420801
|
|
NM_001081.4(CUBN):c.8233G>A (p.Asp2745Asn)
|
rs886046865
|
|
NM_001081.4(CUBN):c.8273C>T (p.Pro2758Leu)
|
rs2131420669
|
|
NM_001081.4(CUBN):c.827C>T (p.Thr276Ile)
|
rs886046881
|
|
NM_001081.4(CUBN):c.8578T>G (p.Cys2860Gly)
|
rs138719573
|
|
NM_001081.4(CUBN):c.8831T>G (p.Met2944Arg)
|
rs544783535
|
|
NM_001081.4(CUBN):c.8977A>G (p.Thr2993Ala)
|
rs1408193576
|
|
NM_001081.4(CUBN):c.923A>C (p.Glu308Ala)
|
rs886046880
|
|
NM_001081.4(CUBN):c.9397A>C (p.Lys3133Gln)
|
rs1432636083
|
|
NM_001081.4(CUBN):c.9990A>C (p.Gln3330His)
|
rs1839305562
|
|
NM_001099271.2(POC5):c.304_305del (p.Thr101_Asp102insTer)
|
rs1561480377
|
|
NM_001102564.3(IFT43):c.322G>A (p.Glu108Lys)
|
rs776120367
|
|
NM_001102564.3(IFT43):c.91G>C (p.Ala31Pro)
|
rs1330242492
|
|
NM_001122633.3(CPS1):c.-17T>G
|
rs763703546
|
|
NM_001126106.4(SLC7A7):c.-175+7G>C
|
rs886050408
|
|
NM_001126106.4(SLC7A7):c.-263G>A
|
rs17122772
|
|
NM_001127221.1(CACNA1A):c.6309_6311delGAG
|
rs750511224
|
|
NM_001127221.2(CACNA1A):c.6659_6660delinsGC (p.His2220Arg)
|
rs1085307607
|
|
NM_001127222.2(CACNA1A):c.100G>C (p.Gly34Arg)
|
|
|
NM_001127222.2(CACNA1A):c.1016A>G (p.Tyr339Cys)
|
|
|
NM_001127222.2(CACNA1A):c.101G>A (p.Gly34Glu)
|
|
|
NM_001127222.2(CACNA1A):c.1035C>G (p.Ile345Met)
|
rs779827819
|
|
NM_001127222.2(CACNA1A):c.1039G>A (p.Gly347Ser)
|
rs977960069
|
|
NM_001127222.2(CACNA1A):c.1059C>A (p.Asn353Lys)
|
rs1568546593
|
|
NM_001127222.2(CACNA1A):c.1105C>T (p.Arg369Trp)
|
rs1057524457
|
|
NM_001127222.2(CACNA1A):c.1106G>A (p.Arg369Gln)
|
|
|
NM_001127222.2(CACNA1A):c.110G>A (p.Arg37Gln)
|
|
|
NM_001127222.2(CACNA1A):c.1118G>A (p.Arg373Gln)
|
rs2145132803
|
|
NM_001127222.2(CACNA1A):c.1120C>T (p.Arg374Trp)
|
|
|
NM_001127222.2(CACNA1A):c.1139G>A (p.Arg380Lys)
|
|
|
NM_001127222.2(CACNA1A):c.1151A>G (p.Gln384Arg)
|
rs2058521134
|
|
NM_001127222.2(CACNA1A):c.1154T>C (p.Ile385Thr)
|
|
|
NM_001127222.2(CACNA1A):c.1159C>T (p.Arg387Cys)
|
|
|
NM_001127222.2(CACNA1A):c.1166T>C (p.Leu389Pro)
|
rs2058520816
|
|
NM_001127222.2(CACNA1A):c.1170T>A (p.Asn390Lys)
|
rs768768744
|
|
NM_001127222.2(CACNA1A):c.1197A>T (p.Ala399=)
|
|
|
NM_001127222.2(CACNA1A):c.1198+5G>A
|
rs1568544895
|
|
NM_001127222.2(CACNA1A):c.1199-7T>A
|
rs2145126181
|
|
NM_001127222.2(CACNA1A):c.1200A>G (p.Glu400=)
|
rs2145126158
|
|
NM_001127222.2(CACNA1A):c.1216G>A (p.Glu406Lys)
|
|
|
NM_001127222.2(CACNA1A):c.1220A>C (p.Asp407Ala)
|
|
|
NM_001127222.2(CACNA1A):c.1220A>G (p.Asp407Gly)
|
rs2058491087
|
|
NM_001127222.2(CACNA1A):c.1231G>T (p.Gly411Trp)
|
rs1448345243
|
|
NM_001127222.2(CACNA1A):c.1242G>T (p.Arg414Ser)
|
rs763099796
|
|
NM_001127222.2(CACNA1A):c.1246C>T (p.Pro416Ser)
|
rs371138043
|
|
NM_001127222.2(CACNA1A):c.124C>T (p.Pro42Ser)
|
rs2145192584
|
|
NM_001127222.2(CACNA1A):c.1255+3A>G
|
|
|
NM_001127222.2(CACNA1A):c.1256-6T>C
|
|
|
NM_001127222.2(CACNA1A):c.1277A>G (p.Lys426Arg)
|
rs1225290298
|
|
NM_001127222.2(CACNA1A):c.1282A>T (p.Ser428Cys)
|
|
|
NM_001127222.2(CACNA1A):c.1322_1324del (p.Gln441del)
|
|
|
NM_001127222.2(CACNA1A):c.1337C>T (p.Ala446Val)
|
|
|
NM_001127222.2(CACNA1A):c.1345+4A>G
|
|
|
NM_001127222.2(CACNA1A):c.1345G>C (p.Gly449Arg)
|
rs1194605924
|
|
NM_001127222.2(CACNA1A):c.1370T>A (p.Ile457Asn)
|
rs768383869
|
|
NM_001127222.2(CACNA1A):c.1373A>T (p.Lys458Ile)
|
|
|
NM_001127222.2(CACNA1A):c.1379C>T (p.Ala460Val)
|
|
|
NM_001127222.2(CACNA1A):c.1387G>A (p.Glu463Lys)
|
|
|
NM_001127222.2(CACNA1A):c.1397C>T (p.Thr466Ile)
|
|
|
NM_001127222.2(CACNA1A):c.1402T>C (p.Phe468Leu)
|
|
|
NM_001127222.2(CACNA1A):c.140T>A (p.Met47Lys)
|
|
|
NM_001127222.2(CACNA1A):c.1413G>C (p.Lys471Asn)
|
rs369920914
|
|
NM_001127222.2(CACNA1A):c.1418G>A (p.Arg473Lys)
|
rs1401413921
|
|
NM_001127222.2(CACNA1A):c.1426C>T (p.Arg476Cys)
|
rs2145051308
|
|
NM_001127222.2(CACNA1A):c.1435A>G (p.Ile479Val)
|
|
|
NM_001127222.2(CACNA1A):c.1442G>T (p.Arg481Leu)
|
rs763944721
|
|
NM_001127222.2(CACNA1A):c.1444A>G (p.Met482Val)
|
rs1555762900
|
|
NM_001127222.2(CACNA1A):c.1448T>A (p.Val483Asp)
|
|
|
NM_001127222.2(CACNA1A):c.1471A>C (p.Thr491Pro)
|
|
|
NM_001127222.2(CACNA1A):c.1480A>G (p.Ser494Gly)
|
|
|
NM_001127222.2(CACNA1A):c.1534G>C (p.Glu512Gln)
|
rs375210532
|
|
NM_001127222.2(CACNA1A):c.1547A>C (p.Asp516Ala)
|
|
|
NM_001127222.2(CACNA1A):c.1555+3_1555+6del
|
rs2058143459
|
|
NM_001127222.2(CACNA1A):c.157G>A (p.Ala53Thr)
|
|
|
NM_001127222.2(CACNA1A):c.1585T>C (p.Phe529Leu)
|
rs2058058208
|
|
NM_001127222.2(CACNA1A):c.1588A>G (p.Met530Val)
|
rs374764234
|
|
NM_001127222.2(CACNA1A):c.1623G>T (p.Gly541=)
|
rs375628894
|
|
NM_001127222.2(CACNA1A):c.1624A>T (p.Thr542Ser)
|
|
|
NM_001127222.2(CACNA1A):c.1625C>T (p.Thr542Met)
|
|
|
NM_001127222.2(CACNA1A):c.1628G>A (p.Arg543Gln)
|
|
|
NM_001127222.2(CACNA1A):c.1663T>C (p.Cys555Arg)
|
rs1600303388
|
|
NM_001127222.2(CACNA1A):c.1668+3A>G
|
|
|
NM_001127222.2(CACNA1A):c.1669-3T>C
|
rs750090822
|
|
NM_001127222.2(CACNA1A):c.1669G>C (p.Val557Leu)
|
|
|
NM_001127222.2(CACNA1A):c.167C>G (p.Ala56Gly)
|
|
|
NM_001127222.2(CACNA1A):c.1690G>A (p.Glu564Lys)
|
rs1057519099
|
|
NM_001127222.2(CACNA1A):c.1697T>G (p.Ile566Ser)
|
|
|
NM_001127222.2(CACNA1A):c.169C>T (p.Arg57Trp)
|
rs1982997781
|
|
NM_001127222.2(CACNA1A):c.1706T>C (p.Val569Ala)
|
rs2145005688
|
|
NM_001127222.2(CACNA1A):c.170G>A (p.Arg57Gln)
|
|
|
NM_001127222.2(CACNA1A):c.1735A>G (p.Ser579Gly)
|
rs2145005615
|
|
NM_001127222.2(CACNA1A):c.1748C>T (p.Ala583Val)
|
rs2145005553
|
|
NM_001127222.2(CACNA1A):c.174_176del (p.Met59del)
|
|
|
NM_001127222.2(CACNA1A):c.175A>G (p.Met59Val)
|
rs1599396496
|
|
NM_001127222.2(CACNA1A):c.1781+3A>C
|
|
|
NM_001127222.2(CACNA1A):c.1781A>C (p.Lys594Thr)
|
rs2145005448
|
|
NM_001127222.2(CACNA1A):c.1805T>C (p.Leu602Pro)
|
rs2057948232
|
|
NM_001127222.2(CACNA1A):c.1819C>T (p.Leu607Phe)
|
rs2057947991
|
|
NM_001127222.2(CACNA1A):c.1830G>A (p.Met610Ile)
|
rs2145004244
|
|
NM_001127222.2(CACNA1A):c.1843A>C (p.Ser615Arg)
|
rs2057947681
|
|
NM_001127222.2(CACNA1A):c.1857_1859dup (p.Leu620_Phe621insLeu)
|
|
|
NM_001127222.2(CACNA1A):c.1876G>A (p.Val626Ile)
|
rs1346036017
|
|
NM_001127222.2(CACNA1A):c.1881C>G (p.Phe627Leu)
|
|
|
NM_001127222.2(CACNA1A):c.1883C>T (p.Ala628Val)
|
rs1600292507
|
|
NM_001127222.2(CACNA1A):c.1898A>G (p.Gln633Arg)
|
rs2057946815
|
|
NM_001127222.2(CACNA1A):c.190C>T (p.Pro64Ser)
|
rs1982996175
|
|
NM_001127222.2(CACNA1A):c.1910G>T (p.Gly637Val)
|
rs121908246
|
|
NM_001127222.2(CACNA1A):c.191C>T (p.Pro64Leu)
|
rs2145192387
|
|
NM_001127222.2(CACNA1A):c.1924G>A (p.Asp642Asn)
|
rs2057938033
|
|
NM_001127222.2(CACNA1A):c.1940C>T (p.Pro647Leu)
|
rs2057937902
|
|
NM_001127222.2(CACNA1A):c.1951G>A (p.Asp651Asn)
|
|
|
NM_001127222.2(CACNA1A):c.1969A>G (p.Ile657Val)
|
rs375173544
|
|
NM_001127222.2(CACNA1A):c.1973T>A (p.Met658Lys)
|
rs2145002206
|
|
NM_001127222.2(CACNA1A):c.1975A>G (p.Thr659Ala)
|
rs2145002197
|
|
NM_001127222.2(CACNA1A):c.1978G>A (p.Val660Met)
|
rs2145002166
|
|
NM_001127222.2(CACNA1A):c.1978_1980del (p.Val660del)
|
rs2057937382
|
|
NM_001127222.2(CACNA1A):c.1986+6G>A
|
rs1791823785
|
|
NM_001127222.2(CACNA1A):c.1991T>C (p.Leu664Pro)
|
|
|
NM_001127222.2(CACNA1A):c.199G>A (p.Val67Ile)
|
|
|
NM_001127222.2(CACNA1A):c.19G>A (p.Glu7Lys)
|
|
|
NM_001127222.2(CACNA1A):c.2003A>T (p.Asp668Val)
|
|
|
NM_001127222.2(CACNA1A):c.2011G>A (p.Glu671Lys)
|
rs1434942721
|
|
NM_001127222.2(CACNA1A):c.2023G>A (p.Asp675Asn)
|
rs906669300
|
|
NM_001127222.2(CACNA1A):c.2040G>C (p.Gln680His)
|
|
|
NM_001127222.2(CACNA1A):c.2047G>A (p.Val683Met)
|
|
|
NM_001127222.2(CACNA1A):c.2056G>A (p.Gly686Ser)
|
rs1064795643
|
|
NM_001127222.2(CACNA1A):c.2075A>G (p.Tyr692Cys)
|
rs2057841267
|
|
NM_001127222.2(CACNA1A):c.2088G>A (p.Leu696=)
|
rs908321451
|
|
NM_001127222.2(CACNA1A):c.2105-9C>G
|
rs1392079452
|
|
NM_001127222.2(CACNA1A):c.2105-9C>T
|
|
|
NM_001127222.2(CACNA1A):c.2105A>T (p.Tyr702Phe)
|
rs2057837052
|
|
NM_001127222.2(CACNA1A):c.2107A>T (p.Thr703Ser)
|
rs1600283133
|
|
NM_001127222.2(CACNA1A):c.2118T>G (p.Asn706Lys)
|
rs2057836849
|
|
NM_001127222.2(CACNA1A):c.2123T>C (p.Phe708Ser)
|
rs2057836815
|
|
NM_001127222.2(CACNA1A):c.2124C>A (p.Phe708Leu)
|
rs762654239
|
|
NM_001127222.2(CACNA1A):c.2127G>T (p.Leu709Phe)
|
rs886041654
|
|
NM_001127222.2(CACNA1A):c.2133C>A (p.Ile711=)
|
rs764839814
|
|
NM_001127222.2(CACNA1A):c.2133C>G (p.Ile711Met)
|
rs764839814
|
|
NM_001127222.2(CACNA1A):c.2141A>G (p.Asp714Gly)
|
rs2057836063
|
|
NM_001127222.2(CACNA1A):c.2149G>A (p.Ala717Thr)
|
rs2144979185
|
|
NM_001127222.2(CACNA1A):c.2172+14G>A
|
rs1195908031
|
|
NM_001127222.2(CACNA1A):c.2188G>C (p.Glu730Gln)
|
|
|
NM_001127222.2(CACNA1A):c.2210T>C (p.Leu737Pro)
|
rs2057767797
|
|
NM_001127222.2(CACNA1A):c.2237C>A (p.Ala746Glu)
|
|
|
NM_001127222.2(CACNA1A):c.2245A>G (p.Ser749Gly)
|
rs1248327304
|
|
NM_001127222.2(CACNA1A):c.2255C>A (p.Ser752Tyr)
|
rs535900273
|
|
NM_001127222.2(CACNA1A):c.225C>G (p.Asn75Lys)
|
rs1982991598
|
|
NM_001127222.2(CACNA1A):c.2291A>G (p.Gln764Arg)
|
|
|
NM_001127222.2(CACNA1A):c.2299C>A (p.Gln767Lys)
|
|
|
NM_001127222.2(CACNA1A):c.2304G>C (p.Lys768Asn)
|
rs771905201
|
|
NM_001127222.2(CACNA1A):c.2308G>A (p.Ala770Thr)
|
|
|
NM_001127222.2(CACNA1A):c.2309C>T (p.Ala770Val)
|
rs2057740662
|
|
NM_001127222.2(CACNA1A):c.2312A>G (p.Lys771Arg)
|
|
|
NM_001127222.2(CACNA1A):c.2327A>G (p.Gln776Arg)
|
|
|
NM_001127222.2(CACNA1A):c.2335A>T (p.Ser779Cys)
|
rs2144958254
|
|
NM_001127222.2(CACNA1A):c.2336G>A (p.Ser779Asn)
|
|
|
NM_001127222.2(CACNA1A):c.2336G>C (p.Ser779Thr)
|
rs372715067
|
|
NM_001127222.2(CACNA1A):c.2343G>A (p.Met781Ile)
|
|
|
NM_001127222.2(CACNA1A):c.2352G>C (p.Gln784His)
|
rs2144958118
|
|
NM_001127222.2(CACNA1A):c.2355C>G (p.Asn785Lys)
|
rs2144958094
|
|
NM_001127222.2(CACNA1A):c.235T>G (p.Phe79Val)
|
rs2145192231
|
|
NM_001127222.2(CACNA1A):c.235_237del (p.Phe79del)
|
rs1568719711
|
|
NM_001127222.2(CACNA1A):c.2371G>A (p.Glu791Lys)
|
|
|
NM_001127222.2(CACNA1A):c.2374G>T (p.Ala792Ser)
|
rs753248182
|
|
NM_001127222.2(CACNA1A):c.2381A>G (p.Tyr794Cys)
|
|
|
NM_001127222.2(CACNA1A):c.2383A>T (p.Asn795Tyr)
|
|
|
NM_001127222.2(CACNA1A):c.2386G>A (p.Glu796Lys)
|
|
|
NM_001127222.2(CACNA1A):c.2392G>A (p.Asp798Asn)
|
rs1380195853
|
|
NM_001127222.2(CACNA1A):c.2393A>G (p.Asp798Gly)
|
|
|
NM_001127222.2(CACNA1A):c.2401G>A (p.Glu801Lys)
|
|
|
NM_001127222.2(CACNA1A):c.2407T>C (p.Trp803Arg)
|
|
|
NM_001127222.2(CACNA1A):c.2420A>C (p.Tyr807Ser)
|
|
|
NM_001127222.2(CACNA1A):c.2422A>T (p.Thr808Ser)
|
rs772177961
|
|
NM_001127222.2(CACNA1A):c.2426G>A (p.Arg809Gln)
|
rs2057737782
|
|
NM_001127222.2(CACNA1A):c.2430C>A (p.His810Gln)
|
|
|
NM_001127222.2(CACNA1A):c.2435G>T (p.Arg812Leu)
|
rs953797733
|
|
NM_001127222.2(CACNA1A):c.2447A>G (p.Lys816Arg)
|
|
|
NM_001127222.2(CACNA1A):c.2456T>C (p.Leu819Ser)
|
|
|
NM_001127222.2(CACNA1A):c.2465C>T (p.Pro822Leu)
|
|
|
NM_001127222.2(CACNA1A):c.2473G>A (p.Val825Met)
|
rs2144957270
|
|
NM_001127222.2(CACNA1A):c.2487G>C (p.Glu829Asp)
|
rs755434242
|
|
NM_001127222.2(CACNA1A):c.2491C>A (p.Arg831Ser)
|
rs1464680327
|
|
NM_001127222.2(CACNA1A):c.2492G>C (p.Arg831Pro)
|
rs1242675074
|
|
NM_001127222.2(CACNA1A):c.2495A>G (p.Asn832Ser)
|
|
|
NM_001127222.2(CACNA1A):c.2495ACA[2] (p.Asn834del)
|
rs750962335
|
|
NM_001127222.2(CACNA1A):c.2510A>G (p.Lys837Arg)
|
rs1293855171
|
|
NM_001127222.2(CACNA1A):c.2512A>G (p.Ser838Gly)
|
|
|
NM_001127222.2(CACNA1A):c.2513G>T (p.Ser838Ile)
|
rs2057735935
|
|
NM_001127222.2(CACNA1A):c.2518G>C (p.Ala840Pro)
|
|
|
NM_001127222.2(CACNA1A):c.2519C>T (p.Ala840Val)
|
|
|
NM_001127222.2(CACNA1A):c.2531C>T (p.Thr844Ile)
|
|
|
NM_001127222.2(CACNA1A):c.2533G>A (p.Val845Met)
|
rs1168020406
|
|
NM_001127222.2(CACNA1A):c.2560G>C (p.Ala854Pro)
|
|
|
NM_001127222.2(CACNA1A):c.2563G>A (p.Glu855Lys)
|
|
|
NM_001127222.2(CACNA1A):c.2564A>C (p.Glu855Ala)
|
rs2057734618
|
|
NM_001127222.2(CACNA1A):c.2581C>G (p.Gln861Glu)
|
rs1407784551
|
|
NM_001127222.2(CACNA1A):c.2582_2599del (p.Gln861_Asp866del)
|
rs767951499
|
|
NM_001127222.2(CACNA1A):c.2587C>A (p.Arg863Ser)
|
rs777076641
|
|
NM_001127222.2(CACNA1A):c.2587C>G (p.Arg863Gly)
|
|
|
NM_001127222.2(CACNA1A):c.258G>C (p.Val86=)
|
|
|
NM_001127222.2(CACNA1A):c.2599C>A (p.Arg867=)
|
rs2057733890
|
|
NM_001127222.2(CACNA1A):c.25C>T (p.Pro9Ser)
|
|
|
NM_001127222.2(CACNA1A):c.2602G>A (p.Ala868Thr)
|
rs1175516920
|
|
NM_001127222.2(CACNA1A):c.2602G>T (p.Ala868Ser)
|
|
|
NM_001127222.2(CACNA1A):c.2603C>T (p.Ala868Val)
|
|
|
NM_001127222.2(CACNA1A):c.2611C>T (p.Pro871Ser)
|
rs780462531
|
|
NM_001127222.2(CACNA1A):c.2616C>A (p.Ser872Arg)
|
|
|
NM_001127222.2(CACNA1A):c.2619C>T (p.Gly873=)
|
rs761874927
|
|
NM_001127222.2(CACNA1A):c.2621C>T (p.Ser874Leu)
|
rs1057522802
|
|
NM_001127222.2(CACNA1A):c.2630T>A (p.Leu877Gln)
|
|
|
NM_001127222.2(CACNA1A):c.2636C>T (p.Ala879Val)
|
rs2057732636
|
|
NM_001127222.2(CACNA1A):c.2644C>T (p.Pro882Ser)
|
|
|
NM_001127222.2(CACNA1A):c.2654G>A (p.Gly885Glu)
|
|
|
NM_001127222.2(CACNA1A):c.2668G>A (p.Glu890Lys)
|
|
|
NM_001127222.2(CACNA1A):c.2668G>C (p.Glu890Gln)
|
|
|
NM_001127222.2(CACNA1A):c.2672T>A (p.Leu891Gln)
|
rs1171365113
|
|
NM_001127222.2(CACNA1A):c.2674A>G (p.Ser892Gly)
|
rs2057731579
|
|
NM_001127222.2(CACNA1A):c.2683G>C (p.Gly895Arg)
|
rs1358948688
|
|
NM_001127222.2(CACNA1A):c.2692G>C (p.Gly898Arg)
|
rs751726770
|
|
NM_001127222.2(CACNA1A):c.26C>G (p.Pro9Arg)
|
|
|
NM_001127222.2(CACNA1A):c.2704G>T (p.Asp902Tyr)
|
rs2057730771
|
|
NM_001127222.2(CACNA1A):c.2706C>G (p.Asp902Glu)
|
rs1446752227
|
|
NM_001127222.2(CACNA1A):c.2708A>C (p.His903Pro)
|
rs1600272904
|
|
NM_001127222.2(CACNA1A):c.2728C>G (p.Leu910Val)
|
|
|
NM_001127222.2(CACNA1A):c.2729T>A (p.Leu910Gln)
|
rs953766694
|
|
NM_001127222.2(CACNA1A):c.2755G>A (p.Glu919Lys)
|
rs1555756130
|
|
NM_001127222.2(CACNA1A):c.2755_2769dup (p.Glu919_Gly923dup)
|
rs2057728868
|
|
NM_001127222.2(CACNA1A):c.2776G>A (p.Gly926Arg)
|
rs1337217129
|
|
NM_001127222.2(CACNA1A):c.2801A>G (p.His934Arg)
|
|
|
NM_001127222.2(CACNA1A):c.2803C>T (p.Arg935Trp)
|
rs931394162
|
|
NM_001127222.2(CACNA1A):c.2806C>G (p.Gln936Glu)
|
rs1318353774
|
|
NM_001127222.2(CACNA1A):c.2808G>T (p.Gln936His)
|
rs1439845382
|
|
NM_001127222.2(CACNA1A):c.2810G>T (p.Gly937Val)
|
|
|
NM_001127222.2(CACNA1A):c.2813G>A (p.Gly938Asp)
|
rs747413278
|
|
NM_001127222.2(CACNA1A):c.2819G>A (p.Arg940Lys)
|
rs1439559578
|
|
NM_001127222.2(CACNA1A):c.2821G>C (p.Glu941Gln)
|
|
|
NM_001127222.2(CACNA1A):c.2823G>C (p.Glu941Asp)
|
|
|
NM_001127222.2(CACNA1A):c.2830A>T (p.Ser944Cys)
|
|
|
NM_001127222.2(CACNA1A):c.2840C>G (p.Pro947Arg)
|
|
|
NM_001127222.2(CACNA1A):c.2843G>T (p.Arg948Leu)
|
|
|
NM_001127222.2(CACNA1A):c.284C>G (p.Thr95Ser)
|
|
|
NM_001127222.2(CACNA1A):c.2851G>A (p.Ala951Thr)
|
|
|
NM_001127222.2(CACNA1A):c.2856C>A (p.Asp952Glu)
|
rs2057726092
|
|
NM_001127222.2(CACNA1A):c.2857G>A (p.Gly953Arg)
|
rs1057518292
|
|
NM_001127222.2(CACNA1A):c.2858G>A (p.Gly953Glu)
|
|
|
NM_001127222.2(CACNA1A):c.2863C>T (p.His955Tyr)
|
rs2057725846
|
|
NM_001127222.2(CACNA1A):c.2867G>A (p.Arg956Gln)
|
rs551380805
|
|
NM_001127222.2(CACNA1A):c.2867G>C (p.Arg956Pro)
|
|
|
NM_001127222.2(CACNA1A):c.2875C>A (p.Arg959Ser)
|
|
|
NM_001127222.2(CACNA1A):c.2893G>A (p.Gly965Arg)
|
rs1473069840
|
|
NM_001127222.2(CACNA1A):c.2896G>A (p.Glu966Lys)
|
rs747456771
|
|
NM_001127222.2(CACNA1A):c.2896G>C (p.Glu966Gln)
|
|
|
NM_001127222.2(CACNA1A):c.2899_2900delinsTT (p.Glu967Leu)
|
rs2144953620
|
|
NM_001127222.2(CACNA1A):c.2909A>G (p.Glu970Gly)
|
rs1555755916
|
|
NM_001127222.2(CACNA1A):c.2914A>G (p.Lys972Glu)
|
rs2144953504
|
|
NM_001127222.2(CACNA1A):c.2924G>A (p.Arg975Gln)
|
rs748418783
|
|
NM_001127222.2(CACNA1A):c.2924G>T (p.Arg975Leu)
|
rs748418783
|
|
NM_001127222.2(CACNA1A):c.2930C>T (p.Ala977Val)
|
rs1432898385
|
|
NM_001127222.2(CACNA1A):c.293C>T (p.Pro98Leu)
|
rs2145192098
|
|
NM_001127222.2(CACNA1A):c.294-1C>A
|
rs1568662077
|
|
NM_001127222.2(CACNA1A):c.2941G>A (p.Glu981Lys)
|
|
|
NM_001127222.2(CACNA1A):c.2944G>A (p.Gly982Ser)
|
rs1367737519
|
|
NM_001127222.2(CACNA1A):c.2956G>A (p.Ala986Thr)
|
rs376228771
|
|
NM_001127222.2(CACNA1A):c.2956G>T (p.Ala986Ser)
|
|
|
NM_001127222.2(CACNA1A):c.2957C>T (p.Ala986Val)
|
rs2144953042
|
|
NM_001127222.2(CACNA1A):c.2959C>T (p.Arg987Trp)
|
rs1489702072
|
|
NM_001127222.2(CACNA1A):c.2965G>T (p.Gly989Cys)
|
|
|
NM_001127222.2(CACNA1A):c.2966_2967delinsTT (p.Gly989Val)
|
rs2144952921
|
|
NM_001127222.2(CACNA1A):c.2966_2989del (p.Gly989_Pro996del)
|
rs2144952654
|
|
NM_001127222.2(CACNA1A):c.2968GAGGGC[1] (p.990EG[1])
|
rs764399373
|
|
NM_001127222.2(CACNA1A):c.2968GAGGGC[4] (p.990EG[4])
|
rs764399373
|
|
NM_001127222.2(CACNA1A):c.2974G>C (p.Glu992Gln)
|
rs2057722066
|
|
NM_001127222.2(CACNA1A):c.2982G>C (p.Glu994Asp)
|
rs2144952767
|
|
NM_001127222.2(CACNA1A):c.2983_3000dup (p.Gly995_Glu1000dup)
|
rs2057721057
|
|
NM_001127222.2(CACNA1A):c.2984G>T (p.Gly995Val)
|
rs1002778568
|
|
NM_001127222.2(CACNA1A):c.2987C>G (p.Pro996Arg)
|
rs750356248
|
|
NM_001127222.2(CACNA1A):c.2987C>T (p.Pro996Leu)
|
|
|
NM_001127222.2(CACNA1A):c.2989G>A (p.Asp997Asn)
|
rs2057721376
|
|
NM_001127222.2(CACNA1A):c.2993G>A (p.Gly998Glu)
|
rs2057721231
|
|
NM_001127222.2(CACNA1A):c.2995G>A (p.Gly999Ser)
|
|
|
NM_001127222.2(CACNA1A):c.3000G>T (p.Glu1000Asp)
|
|
|
NM_001127222.2(CACNA1A):c.3002G>T (p.Arg1001Leu)
|
rs1424294725
|
|
NM_001127222.2(CACNA1A):c.3004A>T (p.Arg1002Trp)
|
rs1175036875
|
|
NM_001127222.2(CACNA1A):c.3006_3008del (p.Arg1004del)
|
rs763302316
|
|
NM_001127222.2(CACNA1A):c.3017G>T (p.Arg1006Leu)
|
|
|
NM_001127222.2(CACNA1A):c.3020A>T (p.His1007Leu)
|
|
|
NM_001127222.2(CACNA1A):c.3023G>A (p.Gly1008Asp)
|
|
|
NM_001127222.2(CACNA1A):c.3042G>C (p.Glu1014Asp)
|
rs868354475
|
|
NM_001127222.2(CACNA1A):c.3046G>A (p.Asp1016Asn)
|
rs2057719269
|
|
NM_001127222.2(CACNA1A):c.3049G>A (p.Ala1017Thr)
|
|
|
NM_001127222.2(CACNA1A):c.3053G>A (p.Arg1018Gln)
|
rs762288499
|
|
NM_001127222.2(CACNA1A):c.3067G>A (p.Glu1023Lys)
|
rs1555755809
|
|
NM_001127222.2(CACNA1A):c.3077A>G (p.His1026Arg)
|
rs2057717972
|
|
NM_001127222.2(CACNA1A):c.3079C>G (p.Arg1027Gly)
|
rs1064794406
|
|
NM_001127222.2(CACNA1A):c.3079C>T (p.Arg1027Trp)
|
|
|
NM_001127222.2(CACNA1A):c.3085A>G (p.Arg1029Gly)
|
|
|
NM_001127222.2(CACNA1A):c.3089+4A>G
|
|
|
NM_001127222.2(CACNA1A):c.3090-3C>T
|
|
|
NM_001127222.2(CACNA1A):c.3090-5C>T
|
rs976595665
|
|
NM_001127222.2(CACNA1A):c.3093G>C (p.Glu1031Asp)
|
|
|
NM_001127222.2(CACNA1A):c.3100G>A (p.Gly1034Ser)
|
rs1600246766
|
|
NM_001127222.2(CACNA1A):c.3101G>A (p.Gly1034Asp)
|
rs2144889565
|
|
NM_001127222.2(CACNA1A):c.3124C>A (p.Pro1042Thr)
|
rs2057414935
|
|
NM_001127222.2(CACNA1A):c.3129C>A (p.Asn1043Lys)
|
rs1187232740
|
|
NM_001127222.2(CACNA1A):c.3145C>A (p.Pro1049Thr)
|
rs2057414205
|
|
NM_001127222.2(CACNA1A):c.3157G>C (p.Asp1053His)
|
rs2144889174
|
|
NM_001127222.2(CACNA1A):c.3164G>C (p.Gly1055Ala)
|
rs1600246526
|
|
NM_001127222.2(CACNA1A):c.3175C>A (p.Pro1059Thr)
|
|
|
NM_001127222.2(CACNA1A):c.3179C>G (p.Pro1060Arg)
|
rs763400188
|
|
NM_001127222.2(CACNA1A):c.3190G>C (p.Asp1064His)
|
|
|
NM_001127222.2(CACNA1A):c.31C>T (p.Arg11Cys)
|
|
|
NM_001127222.2(CACNA1A):c.3213C>A (p.Asn1071Lys)
|
rs1369614864
|
|
NM_001127222.2(CACNA1A):c.323T>C (p.Ile108Thr)
|
|
|
NM_001127222.2(CACNA1A):c.3241C>T (p.Pro1081Ser)
|
rs1467243087
|
|
NM_001127222.2(CACNA1A):c.324C>G (p.Ile108Met)
|
rs2144947382
|
|
NM_001127222.2(CACNA1A):c.3262G>T (p.Ala1088Ser)
|
|
|
NM_001127222.2(CACNA1A):c.3266G>T (p.Gly1089Val)
|
|
|
NM_001127222.2(CACNA1A):c.3307C>T (p.Pro1103Ser)
|
|
|
NM_001127222.2(CACNA1A):c.3310_3315dup (p.Gly1104_Pro1105dup)
|
rs776584949
|
|
NM_001127222.2(CACNA1A):c.3325A>T (p.Ile1109Phe)
|
rs1568495538
|
|
NM_001127222.2(CACNA1A):c.3329C>A (p.Pro1110His)
|
|
|
NM_001127222.2(CACNA1A):c.3334A>G (p.Met1112Val)
|
|
|
NM_001127222.2(CACNA1A):c.3349C>A (p.Gln1117Lys)
|
|
|
NM_001127222.2(CACNA1A):c.3355G>C (p.Ala1119Pro)
|
rs199745070
|
|
NM_001127222.2(CACNA1A):c.337A>T (p.Ile113Phe)
|
|
|
NM_001127222.2(CACNA1A):c.3383C>A (p.Pro1128Gln)
|
rs754208553
|
|
NM_001127222.2(CACNA1A):c.3393_3401dup (p.Ser1132_Pro1134dup)
|
rs770648017
|
|
NM_001127222.2(CACNA1A):c.3395C>T (p.Ser1132Phe)
|
rs2144887797
|
|
NM_001127222.2(CACNA1A):c.3406C>T (p.Pro1136Ser)
|
rs764131315
|
|
NM_001127222.2(CACNA1A):c.3409C>A (p.Pro1137Thr)
|
|
|
NM_001127222.2(CACNA1A):c.3410C>A (p.Pro1137His)
|
rs200333359
|
|
NM_001127222.2(CACNA1A):c.3410C>G (p.Pro1137Arg)
|
rs200333359
|
|
NM_001127222.2(CACNA1A):c.3413A>G (p.Lys1138Arg)
|
rs746555911
|
|
NM_001127222.2(CACNA1A):c.3413A>T (p.Lys1138Met)
|
|
|
NM_001127222.2(CACNA1A):c.3430C>T (p.Leu1144Phe)
|
rs2057405997
|
|
NM_001127222.2(CACNA1A):c.3461C>G (p.Thr1154Ser)
|
|
|
NM_001127222.2(CACNA1A):c.3464A>T (p.Asn1155Ile)
|
rs992828062
|
|
NM_001127222.2(CACNA1A):c.346G>A (p.Ala116Thr)
|
rs778725158
|
|
NM_001127222.2(CACNA1A):c.3473A>C (p.Lys1158Thr)
|
|
|
NM_001127222.2(CACNA1A):c.3478G>A (p.Ala1160Thr)
|
rs1256731049
|
|
NM_001127222.2(CACNA1A):c.3478G>T (p.Ala1160Ser)
|
|
|
NM_001127222.2(CACNA1A):c.3479C>G (p.Ala1160Gly)
|
rs766027931
|
|
NM_001127222.2(CACNA1A):c.3488_3489delinsAA (p.Pro1163Gln)
|
|
|
NM_001127222.2(CACNA1A):c.34T>C (p.Tyr12His)
|
|
|
NM_001127222.2(CACNA1A):c.3515C>T (p.Pro1172Leu)
|
|
|
NM_001127222.2(CACNA1A):c.3526C>A (p.Pro1176Thr)
|
rs1458640910
|
|
NM_001127222.2(CACNA1A):c.3529C>A (p.Pro1177Thr)
|
rs1057522207
|
|
NM_001127222.2(CACNA1A):c.3529C>G (p.Pro1177Ala)
|
rs1057522207
|
|
NM_001127222.2(CACNA1A):c.3529C>T (p.Pro1177Ser)
|
rs1057522207
|
|
NM_001127222.2(CACNA1A):c.3533T>C (p.Leu1178Pro)
|
|
|
NM_001127222.2(CACNA1A):c.3542C>T (p.Thr1181Ile)
|
|
|
NM_001127222.2(CACNA1A):c.3545T>C (p.Val1182Ala)
|
|
|
NM_001127222.2(CACNA1A):c.3565G>A (p.Ala1189Thr)
|
rs1034876149
|
|
NM_001127222.2(CACNA1A):c.3584C>T (p.Pro1195Leu)
|
rs1568493631
|
|
NM_001127222.2(CACNA1A):c.3597_3599del (p.Glu1200del)
|
|
|
NM_001127222.2(CACNA1A):c.3598G>A (p.Glu1200Lys)
|
|
|
NM_001127222.2(CACNA1A):c.35A>T (p.Tyr12Phe)
|
rs994265107
|
|
NM_001127222.2(CACNA1A):c.3606GGA[3] (p.Glu1206del)
|
rs750826355
|
|
NM_001127222.2(CACNA1A):c.3625C>A (p.Arg1209Ser)
|
rs781026181
|
|
NM_001127222.2(CACNA1A):c.3625C>T (p.Arg1209Cys)
|
rs781026181
|
|
NM_001127222.2(CACNA1A):c.3637G>T (p.Gly1213Cys)
|
|
|
NM_001127222.2(CACNA1A):c.3643A>G (p.Lys1215Glu)
|
rs1476884019
|
|
NM_001127222.2(CACNA1A):c.3646C>T (p.Pro1216Ser)
|
|
|
NM_001127222.2(CACNA1A):c.3686C>A (p.Thr1229Asn)
|
|
|
NM_001127222.2(CACNA1A):c.3686C>T (p.Thr1229Ile)
|
|
|
NM_001127222.2(CACNA1A):c.3691C>T (p.Pro1231Ser)
|
|
|
NM_001127222.2(CACNA1A):c.3692C>T (p.Pro1231Leu)
|
|
|
NM_001127222.2(CACNA1A):c.3693-3C>T
|
|
|
NM_001127222.2(CACNA1A):c.3693-4A>G
|
|
|
NM_001127222.2(CACNA1A):c.3693C>G (p.Pro1231=)
|
rs1555751817
|
|
NM_001127222.2(CACNA1A):c.3697C>T (p.Arg1233Cys)
|
rs2057333004
|
|
NM_001127222.2(CACNA1A):c.3701G>C (p.Arg1234Pro)
|
rs373183625
|
|
NM_001127222.2(CACNA1A):c.3742_3744del (p.Cys1248del)
|
|
|
NM_001127222.2(CACNA1A):c.3757A>T (p.Ile1253Phe)
|
rs2144871593
|
|
NM_001127222.2(CACNA1A):c.3764T>C (p.Met1255Thr)
|
rs1085307644
|
|
NM_001127222.2(CACNA1A):c.3765G>A (p.Met1255Ile)
|
rs2144871559
|
|
NM_001127222.2(CACNA1A):c.379A>G (p.Thr127Ala)
|
rs2144947148
|
|
NM_001127222.2(CACNA1A):c.3814C>A (p.Arg1272=)
|
rs372970430
|
|
NM_001127222.2(CACNA1A):c.3815G>A (p.Arg1272Gln)
|
rs2057331138
|
|
NM_001127222.2(CACNA1A):c.3817AAC[1] (p.Asn1274del)
|
rs1085307864
|
|
NM_001127222.2(CACNA1A):c.3820A>G (p.Asn1274Asp)
|
rs2144871278
|
|
NM_001127222.2(CACNA1A):c.3822+6T>C
|
|
|
NM_001127222.2(CACNA1A):c.3822+70A>G
|
rs1462524553
|
|
NM_001127222.2(CACNA1A):c.3823G>C (p.Val1275Leu)
|
rs995835535
|
|
NM_001127222.2(CACNA1A):c.383C>T (p.Pro128Leu)
|
|
|
NM_001127222.2(CACNA1A):c.3841T>A (p.Tyr1281Asn)
|
rs1184262651
|
|
NM_001127222.2(CACNA1A):c.3844G>C (p.Val1282Leu)
|
|
|
NM_001127222.2(CACNA1A):c.3851C>T (p.Thr1284Ile)
|
rs2057169185
|
|
NM_001127222.2(CACNA1A):c.3853G>A (p.Gly1285Ser)
|
|
|
NM_001127222.2(CACNA1A):c.3873G>A (p.Met1291Ile)
|
rs2144839595
|
|
NM_001127222.2(CACNA1A):c.3901G>A (p.Val1301Ile)
|
rs779292782
|
|
NM_001127222.2(CACNA1A):c.3922T>G (p.Phe1308Val)
|
rs2144833436
|
|
NM_001127222.2(CACNA1A):c.3926G>A (p.Arg1309His)
|
rs1568485102
|
|
NM_001127222.2(CACNA1A):c.3940A>G (p.Ile1314Val)
|
|
|
NM_001127222.2(CACNA1A):c.3946G>A (p.Asp1316Asn)
|
rs1568485068
|
|
NM_001127222.2(CACNA1A):c.394C>T (p.Arg132Trp)
|
|
|
NM_001127222.2(CACNA1A):c.395G>A (p.Arg132Gln)
|
|
|
NM_001127222.2(CACNA1A):c.399+4A>G
|
|
|
NM_001127222.2(CACNA1A):c.3998G>A (p.Ser1333Asn)
|
rs2056768399
|
|
NM_001127222.2(CACNA1A):c.399G>C (p.Leu133=)
|
rs2144947082
|
|
NM_001127222.2(CACNA1A):c.4027T>C (p.Ser1343Pro)
|
rs2056768058
|
|
NM_001127222.2(CACNA1A):c.4028C>A (p.Ser1343Tyr)
|
rs2056767982
|
|
NM_001127222.2(CACNA1A):c.4028C>T (p.Ser1343Phe)
|
|
|
NM_001127222.2(CACNA1A):c.4061A>C (p.Lys1354Thr)
|
|
|
NM_001127222.2(CACNA1A):c.4064C>T (p.Thr1355Ile)
|
rs2056767062
|
|
NM_001127222.2(CACNA1A):c.4078C>T (p.Pro1360Ser)
|
|
|
NM_001127222.2(CACNA1A):c.4087A>G (p.Lys1363Glu)
|
rs2144772824
|
|
NM_001127222.2(CACNA1A):c.4089+3G>T
|
|
|
NM_001127222.2(CACNA1A):c.4089+6A>T
|
|
|
NM_001127222.2(CACNA1A):c.4090-3C>T
|
|
|
NM_001127222.2(CACNA1A):c.4091C>A (p.Ala1364Asp)
|
|
|
NM_001127222.2(CACNA1A):c.4094T>A (p.Val1365Glu)
|
rs2144767656
|
|
NM_001127222.2(CACNA1A):c.4102T>C (p.Cys1368Arg)
|
rs886041909
|
|
NM_001127222.2(CACNA1A):c.4107G>A (p.Val1369=)
|
rs1568472202
|
|
NM_001127222.2(CACNA1A):c.4135A>T (p.Ile1379Phe)
|
rs1600195869
|
|
NM_001127222.2(CACNA1A):c.4144G>T (p.Val1382Phe)
|
rs2144767519
|
|
NM_001127222.2(CACNA1A):c.4154T>C (p.Leu1385Pro)
|
|
|
NM_001127222.2(CACNA1A):c.4166T>C (p.Ile1389Thr)
|
rs2144767456
|
|
NM_001127222.2(CACNA1A):c.4171G>T (p.Ala1391Ser)
|
rs1398841527
|
|
NM_001127222.2(CACNA1A):c.4173_4174insATCTTC (p.Ala1391_Val1392insIlePhe)
|
rs1600195777
|
|
NM_001127222.2(CACNA1A):c.4174G>T (p.Val1392Leu)
|
rs794727411
|
|
NM_001127222.2(CACNA1A):c.4193T>C (p.Phe1398Ser)
|
|
|
NM_001127222.2(CACNA1A):c.4194C>G (p.Phe1398Leu)
|
|
|
NM_001127222.2(CACNA1A):c.4199G>C (p.Gly1400Ala)
|
rs1555745111
|
|
NM_001127222.2(CACNA1A):c.4202A>G (p.Lys1401Arg)
|
rs2144767291
|
|
NM_001127222.2(CACNA1A):c.4210C>T (p.His1404Tyr)
|
|
|
NM_001127222.2(CACNA1A):c.4228A>G (p.Lys1410Glu)
|
rs932772664
|
|
NM_001127222.2(CACNA1A):c.4250+13T>C
|
|
|
NM_001127222.2(CACNA1A):c.4251A>T (p.Arg1417=)
|
|
|
NM_001127222.2(CACNA1A):c.4298G>A (p.Arg1433Gln)
|
rs2144758462
|
|
NM_001127222.2(CACNA1A):c.4322A>T (p.His1441Leu)
|
rs2144758379
|
|
NM_001127222.2(CACNA1A):c.4327G>A (p.Asp1443Asn)
|
rs1443877971
|
|
NM_001127222.2(CACNA1A):c.4328A>G (p.Asp1443Gly)
|
rs2056674575
|
|
NM_001127222.2(CACNA1A):c.433T>G (p.Cys145Gly)
|
rs2144936384
|
|
NM_001127222.2(CACNA1A):c.4352C>G (p.Thr1451Ser)
|
|
|
NM_001127222.2(CACNA1A):c.4370C>T (p.Thr1457Met)
|
rs2056673232
|
|
NM_001127222.2(CACNA1A):c.4388+3A>G
|
|
|
NM_001127222.2(CACNA1A):c.4388+6T>C
|
|
|
NM_001127222.2(CACNA1A):c.4390G>A (p.Val1464Ile)
|
rs2144748776
|
|
NM_001127222.2(CACNA1A):c.4447C>T (p.Arg1483Cys)
|
rs2144748587
|
|
NM_001127222.2(CACNA1A):c.4469A>G (p.Tyr1490Cys)
|
rs1064795901
|
|
NM_001127222.2(CACNA1A):c.4471G>A (p.Val1491Ile)
|
|
|
NM_001127222.2(CACNA1A):c.4471GTC[1] (p.Val1492del)
|
|
|
NM_001127222.2(CACNA1A):c.4526TCA[2] (p.Ile1511del)
|
|
|
NM_001127222.2(CACNA1A):c.4535C>A (p.Thr1512Asn)
|
rs2144748262
|
|
NM_001127222.2(CACNA1A):c.4550G>T (p.Gly1517Val)
|
rs2144748218
|
|
NM_001127222.2(CACNA1A):c.4561A>G (p.Met1521Val)
|
rs2144748158
|
|
NM_001127222.2(CACNA1A):c.4574G>A (p.Ser1525Asn)
|
rs2056600119
|
|
NM_001127222.2(CACNA1A):c.4590+5C>G
|
|
|
NM_001127222.2(CACNA1A):c.4590+6A>G
|
|
|
NM_001127222.2(CACNA1A):c.4592G>A (p.Arg1531Lys)
|
rs2144735318
|
|
NM_001127222.2(CACNA1A):c.4605T>G (p.Asp1535Glu)
|
|
|
NM_001127222.2(CACNA1A):c.4609G>T (p.Ala1537Ser)
|
|
|
NM_001127222.2(CACNA1A):c.4612A>C (p.Ile1538Leu)
|
|
|
NM_001127222.2(CACNA1A):c.4612A>G (p.Ile1538Val)
|
|
|
NM_001127222.2(CACNA1A):c.4634G>A (p.Arg1545Gln)
|
rs775048630
|
|
NM_001127222.2(CACNA1A):c.4634G>T (p.Arg1545Leu)
|
|
|
NM_001127222.2(CACNA1A):c.4636C>T (p.His1546Tyr)
|
rs2144735184
|
|
NM_001127222.2(CACNA1A):c.4639A>G (p.Met1547Val)
|
|
|
NM_001127222.2(CACNA1A):c.4639A>T (p.Met1547Leu)
|
|
|
NM_001127222.2(CACNA1A):c.4654C>G (p.Gln1552Glu)
|
|
|
NM_001127222.2(CACNA1A):c.467G>T (p.Gly156Val)
|
|
|
NM_001127222.2(CACNA1A):c.4683C>G (p.Phe1561Leu)
|
rs377082780
|
|
NM_001127222.2(CACNA1A):c.4684G>A (p.Val1562Met)
|
rs1568465560
|
|
NM_001127222.2(CACNA1A):c.4684G>C (p.Val1562Leu)
|
rs1568465560
|
|
NM_001127222.2(CACNA1A):c.4687G>T (p.Val1563Leu)
|
|
|
NM_001127222.2(CACNA1A):c.4693C>G (p.Pro1565Ala)
|
|
|
NM_001127222.2(CACNA1A):c.470T>C (p.Phe157Ser)
|
|
|
NM_001127222.2(CACNA1A):c.4714A>G (p.Met1572Val)
|
rs2056510928
|
|
NM_001127222.2(CACNA1A):c.4716G>A (p.Met1572Ile)
|
|
|
NM_001127222.2(CACNA1A):c.4720A>G (p.Met1574Val)
|
rs1555743201
|
|
NM_001127222.2(CACNA1A):c.4726G>A (p.Ala1576Thr)
|
rs2056510591
|
|
NM_001127222.2(CACNA1A):c.4738A>G (p.Ile1580Val)
|
|
|
NM_001127222.2(CACNA1A):c.4748TGA[1] (p.Met1584del)
|
|
|
NM_001127222.2(CACNA1A):c.4758C>A (p.Phe1586Leu)
|
rs2056445437
|
|
NM_001127222.2(CACNA1A):c.4792C>T (p.Arg1598Trp)
|
|
|
NM_001127222.2(CACNA1A):c.4804A>G (p.Ile1602Val)
|
rs2056444576
|
|
NM_001127222.2(CACNA1A):c.4805T>C (p.Ile1602Thr)
|
rs2056444494
|
|
NM_001127222.2(CACNA1A):c.4836T>G (p.Cys1612Trp)
|
rs781413708
|
|
NM_001127222.2(CACNA1A):c.4843A>G (p.Lys1615Glu)
|
rs2056443467
|
|
NM_001127222.2(CACNA1A):c.4847T>C (p.Val1616Ala)
|
|
|
NM_001127222.2(CACNA1A):c.4867-6T>G
|
rs2056196120
|
|
NM_001127222.2(CACNA1A):c.4874T>G (p.Phe1625Cys)
|
rs771061659
|
|
NM_001127222.2(CACNA1A):c.488C>T (p.Ser163Phe)
|
rs1555789107
|
|
NM_001127222.2(CACNA1A):c.4899C>G (p.Asp1633Glu)
|
rs2144692015
|
|
NM_001127222.2(CACNA1A):c.4942G>C (p.Glu1648Gln)
|
rs1417421667
|
|
NM_001127222.2(CACNA1A):c.4951-5C>A
|
|
|
NM_001127222.2(CACNA1A):c.4951A>G (p.Asn1651Asp)
|
|
|
NM_001127222.2(CACNA1A):c.4970G>T (p.Ser1657Ile)
|
|
|
NM_001127222.2(CACNA1A):c.4991C>G (p.Ala1664Gly)
|
|
|
NM_001127222.2(CACNA1A):c.4999C>T (p.Leu1667Phe)
|
rs2144649806
|
|
NM_001127222.2(CACNA1A):c.4G>T (p.Ala2Ser)
|
rs2145193160
|
|
NM_001127222.2(CACNA1A):c.5009T>G (p.Leu1670Arg)
|
|
|
NM_001127222.2(CACNA1A):c.5018A>G (p.Gln1673Arg)
|
rs2055850287
|
|
NM_001127222.2(CACNA1A):c.5021G>A (p.Gly1674Asp)
|
rs895744093
|
|
NM_001127222.2(CACNA1A):c.5029A>G (p.Ile1677Val)
|
rs766623973
|
|
NM_001127222.2(CACNA1A):c.502G>A (p.Gly168Ser)
|
rs2144936186
|
|
NM_001127222.2(CACNA1A):c.5051T>C (p.Phe1684Ser)
|
|
|
NM_001127222.2(CACNA1A):c.5053G>A (p.Val1685Met)
|
rs1442400930
|
|
NM_001127222.2(CACNA1A):c.5057A>G (p.Gln1686Arg)
|
rs2055848608
|
|
NM_001127222.2(CACNA1A):c.5058G>C (p.Gln1686His)
|
|
|
NM_001127222.2(CACNA1A):c.5068-3C>T
|
|
|
NM_001127222.2(CACNA1A):c.5077T>C (p.Tyr1693His)
|
|
|
NM_001127222.2(CACNA1A):c.5095G>C (p.Ala1699Pro)
|
rs371273055
|
|
NM_001127222.2(CACNA1A):c.50C>G (p.Ser17Cys)
|
rs931963287
|
|
NM_001127222.2(CACNA1A):c.5104T>C (p.Phe1702Leu)
|
rs2055834394
|
|
NM_001127222.2(CACNA1A):c.512T>A (p.Val171Asp)
|
|
|
NM_001127222.2(CACNA1A):c.5133+3G>A
|
|
|
NM_001127222.2(CACNA1A):c.5133+3G>C
|
rs1320790447
|
|
NM_001127222.2(CACNA1A):c.5133+5G>A
|
rs2144647781
|
|
NM_001127222.2(CACNA1A):c.5140G>C (p.Gly1714Arg)
|
|
|
NM_001127222.2(CACNA1A):c.5152A>T (p.Ile1718Phe)
|
|
|
NM_001127222.2(CACNA1A):c.5154C>G (p.Ile1718Met)
|
|
|
NM_001127222.2(CACNA1A):c.5159T>A (p.Val1720Glu)
|
|
|
NM_001127222.2(CACNA1A):c.5165A>G (p.Asp1722Gly)
|
|
|
NM_001127222.2(CACNA1A):c.5167G>A (p.Glu1723Lys)
|
rs931067957
|
|
NM_001127222.2(CACNA1A):c.5182G>A (p.Asp1728Asn)
|
rs1436816057
|
|
NM_001127222.2(CACNA1A):c.5198C>T (p.Thr1733Ile)
|
rs2144646721
|
|
NM_001127222.2(CACNA1A):c.5215C>T (p.Arg1739Trp)
|
rs2144646626
|
|
NM_001127222.2(CACNA1A):c.5216G>A (p.Arg1739Gln)
|
|
|
NM_001127222.2(CACNA1A):c.5233C>T (p.Leu1745Phe)
|
rs2055823924
|
|
NM_001127222.2(CACNA1A):c.5236A>G (p.Met1746Val)
|
|
|
NM_001127222.2(CACNA1A):c.5238G>C (p.Met1746Ile)
|
rs1210283621
|
|
NM_001127222.2(CACNA1A):c.523G>A (p.Val175Met)
|
|
|
NM_001127222.2(CACNA1A):c.5248C>A (p.Arg1750=)
|
|
|
NM_001127222.2(CACNA1A):c.5248C>G (p.Arg1750Gly)
|
|
|
NM_001127222.2(CACNA1A):c.5248C>T (p.Arg1750Trp)
|
rs1568446845
|
|
NM_001127222.2(CACNA1A):c.5249G>A (p.Arg1750Gln)
|
rs781588570
|
|
NM_001127222.2(CACNA1A):c.5249G>C (p.Arg1750Pro)
|
|
|
NM_001127222.2(CACNA1A):c.5251A>C (p.Ser1751Arg)
|
|
|
NM_001127222.2(CACNA1A):c.526G>C (p.Val176Leu)
|
rs1057521920
|
|
NM_001127222.2(CACNA1A):c.5328C>G (p.Ile1776Met)
|
|
|
NM_001127222.2(CACNA1A):c.5335C>A (p.Arg1779=)
|
rs2144629622
|
|
NM_001127222.2(CACNA1A):c.5348A>G (p.Asn1783Ser)
|
|
|
NM_001127222.2(CACNA1A):c.5356G>T (p.Ala1786Ser)
|
|
|
NM_001127222.2(CACNA1A):c.5401-13G>A
|
rs2144622540
|
|
NM_001127222.2(CACNA1A):c.5408A>C (p.Asn1803Thr)
|
|
|
NM_001127222.2(CACNA1A):c.5416G>A (p.Val1806Ile)
|
|
|
NM_001127222.2(CACNA1A):c.5439T>G (p.Phe1813Leu)
|
rs1600127242
|
|
NM_001127222.2(CACNA1A):c.5452C>G (p.Arg1818Gly)
|
rs267606696
|
|
NM_001127222.2(CACNA1A):c.5458T>C (p.Ser1820Pro)
|
|
|
NM_001127222.2(CACNA1A):c.5473C>T (p.Pro1825Ser)
|
|
|
NM_001127222.2(CACNA1A):c.5477A>G (p.His1826Arg)
|
rs2055610097
|
|
NM_001127222.2(CACNA1A):c.5484G>A (p.Leu1828=)
|
rs2055609637
|
|
NM_001127222.2(CACNA1A):c.548C>T (p.Ala183Val)
|
|
|
NM_001127222.2(CACNA1A):c.5498G>A (p.Arg1833His)
|
|
|
NM_001127222.2(CACNA1A):c.5498G>C (p.Arg1833Pro)
|
|
|
NM_001127222.2(CACNA1A):c.5506G>A (p.Ala1836Thr)
|
|
|
NM_001127222.2(CACNA1A):c.5509G>A (p.Glu1837Lys)
|
rs1408989522
|
|
NM_001127222.2(CACNA1A):c.5521G>C (p.Ala1841Pro)
|
rs753229469
|
|
NM_001127222.2(CACNA1A):c.5529-1180G>A
|
rs2055560379
|
|
NM_001127222.2(CACNA1A):c.5529-1185G>C
|
|
|
NM_001127222.2(CACNA1A):c.5529-1189C>T
|
rs2055560659
|
|
NM_001127222.2(CACNA1A):c.5529-1191C>T
|
|
|
NM_001127222.2(CACNA1A):c.5529-1204G>A
|
rs2144616611
|
|
NM_001127222.2(CACNA1A):c.5529-1210G>A
|
rs1001063428
|
|
NM_001127222.2(CACNA1A):c.5529-1218C>T
|
|
|
NM_001127222.2(CACNA1A):c.5529-1219C>A
|
|
|
NM_001127222.2(CACNA1A):c.5529-1225A>G
|
rs1432354078
|
|
NM_001127222.2(CACNA1A):c.5529-1230G>A
|
rs1246077018
|
|
NM_001127222.2(CACNA1A):c.5529-1231C>G
|
|
|
NM_001127222.2(CACNA1A):c.5529-1240A>G
|
|
|
NM_001127222.2(CACNA1A):c.5529-1246A>G
|
rs2144616837
|
|
NM_001127222.2(CACNA1A):c.5529-1248A>G
|
rs2055563143
|
|
NM_001127222.2(CACNA1A):c.5529-1249G>T
|
|
|
NM_001127222.2(CACNA1A):c.5529-1254A>T
|
rs1568440462
|
|
NM_001127222.2(CACNA1A):c.5529-1263G>A
|
rs770936656
|
|
NM_001127222.2(CACNA1A):c.5529-1263G>T
|
rs770936656
|
|
NM_001127222.2(CACNA1A):c.5534G>A (p.Arg1845His)
|
|
|
NM_001127222.2(CACNA1A):c.55G>A (p.Ala19Thr)
|
rs923359230
|
|
NM_001127222.2(CACNA1A):c.560C>T (p.Thr187Met)
|
rs1015798325
|
|
NM_001127222.2(CACNA1A):c.562G>C (p.Glu188Gln)
|
rs2059326934
|
|
NM_001127222.2(CACNA1A):c.5638A>C (p.Met1880Leu)
|
|
|
NM_001127222.2(CACNA1A):c.5642_5692del (p.Asp1881_Met1897del)
|
|
|
NM_001127222.2(CACNA1A):c.5653G>A (p.Ala1885Thr)
|
|
|
NM_001127222.2(CACNA1A):c.5690T>G (p.Met1897Arg)
|
rs2144595037
|
|
NM_001127222.2(CACNA1A):c.5695C>G (p.Leu1899Val)
|
rs2055369392
|
|
NM_001127222.2(CACNA1A):c.5698A>G (p.Ile1900Val)
|
|
|
NM_001127222.2(CACNA1A):c.56C>A (p.Ala19Glu)
|
|
|
NM_001127222.2(CACNA1A):c.5700C>G (p.Ile1900Met)
|
|
|
NM_001127222.2(CACNA1A):c.5720A>G (p.Lys1907Arg)
|
rs2144594984
|
|
NM_001127222.2(CACNA1A):c.5731G>A (p.Gly1911Arg)
|
rs751603485
|
|
NM_001127222.2(CACNA1A):c.5735G>A (p.Gly1912Glu)
|
rs2054931821
|
|
NM_001127222.2(CACNA1A):c.5755G>A (p.Asp1919Asn)
|
rs1064794441
|
|
NM_001127222.2(CACNA1A):c.5761G>A (p.Glu1921Lys)
|
rs2144537759
|
|
NM_001127222.2(CACNA1A):c.5771A>C (p.Lys1924Thr)
|
rs1181667215
|
|
NM_001127222.2(CACNA1A):c.5778G>A (p.Met1926Ile)
|
rs1252683687
|
|
NM_001127222.2(CACNA1A):c.5779A>T (p.Met1927Leu)
|
rs775982911
|
|
NM_001127222.2(CACNA1A):c.5794A>G (p.Asn1932Asp)
|
|
|
NM_001127222.2(CACNA1A):c.5803C>A (p.Gln1935Lys)
|
rs2144537491
|
|
NM_001127222.2(CACNA1A):c.5809A>T (p.Thr1937Ser)
|
|
|
NM_001127222.2(CACNA1A):c.581T>C (p.Leu194Pro)
|
|
|
NM_001127222.2(CACNA1A):c.5839+6A>C
|
rs2144537255
|
|
NM_001127222.2(CACNA1A):c.5840-3C>A
|
|
|
NM_001127222.2(CACNA1A):c.5857G>A (p.Gly1953Arg)
|
rs2144536064
|
|
NM_001127222.2(CACNA1A):c.5861A>G (p.Lys1954Arg)
|
|
|
NM_001127222.2(CACNA1A):c.5869G>A (p.Ala1957Thr)
|
rs1217161285
|
|
NM_001127222.2(CACNA1A):c.5876T>C (p.Met1959Thr)
|
rs763611434
|
|
NM_001127222.2(CACNA1A):c.5879T>A (p.Met1960Lys)
|
|
|
NM_001127222.2(CACNA1A):c.5880G>A (p.Met1960Ile)
|
rs1085307557
|
|
NM_001127222.2(CACNA1A):c.589G>A (p.Val197Ile)
|
rs1005884911
|
|
NM_001127222.2(CACNA1A):c.5924C>A (p.Ala1975Asp)
|
|
|
NM_001127222.2(CACNA1A):c.5930G>A (p.Arg1977His)
|
rs1057521547
|
|
NM_001127222.2(CACNA1A):c.593G>A (p.Arg198Gln)
|
rs797045424
|
|
NM_001127222.2(CACNA1A):c.5940+18C>G
|
rs1057522421
|
|
NM_001127222.2(CACNA1A):c.5940+6C>T
|
rs909499550
|
|
NM_001127222.2(CACNA1A):c.5944C>T (p.Arg1982Trp)
|
|
|
NM_001127222.2(CACNA1A):c.5948C>T (p.Thr1983Ile)
|
rs947850652
|
|
NM_001127222.2(CACNA1A):c.5953C>A (p.Leu1985Ile)
|
|
|
NM_001127222.2(CACNA1A):c.5953C>G (p.Leu1985Val)
|
|
|
NM_001127222.2(CACNA1A):c.5957T>C (p.Met1986Thr)
|
rs2144526659
|
|
NM_001127222.2(CACNA1A):c.596T>C (p.Val199Ala)
|
|
|
NM_001127222.2(CACNA1A):c.5984C>T (p.Pro1995Leu)
|
rs1568424203
|
|
NM_001127222.2(CACNA1A):c.5994A>C (p.Glu1998Asp)
|
rs16045
|
|
NM_001127222.2(CACNA1A):c.5994_5996dup (p.Gly2000dup)
|
rs2054858852
|
|
NM_001127222.2(CACNA1A):c.59C>T (p.Ala20Val)
|
|
|
NM_001127222.2(CACNA1A):c.6004G>A (p.Gly2002Ser)
|
rs1568424111
|
|
NM_001127222.2(CACNA1A):c.601C>T (p.Arg201Trp)
|
rs2144559282
|
|
NM_001127222.2(CACNA1A):c.6026C>A (p.Thr2009Asn)
|
rs776574979
|
|
NM_001127222.2(CACNA1A):c.602G>A (p.Arg201Gln)
|
rs2059326410
|
|
NM_001127222.2(CACNA1A):c.6035A>G (p.Asp2012Gly)
|
rs2144526083
|
|
NM_001127222.2(CACNA1A):c.6051-3C>A
|
rs1318280840
|
|
NM_001127222.2(CACNA1A):c.6058C>T (p.His2020Tyr)
|
rs2144525195
|
|
NM_001127222.2(CACNA1A):c.6065G>A (p.Ser2022Asn)
|
rs2144525162
|
|
NM_001127222.2(CACNA1A):c.6067G>C (p.Gly2023Arg)
|
|
|
NM_001127222.2(CACNA1A):c.6067G>T (p.Gly2023Cys)
|
rs574805525
|
|
NM_001127222.2(CACNA1A):c.6073A>C (p.Lys2025Gln)
|
rs2144525077
|
|
NM_001127222.2(CACNA1A):c.6079A>G (p.Ser2027Gly)
|
rs2054851950
|
|
NM_001127222.2(CACNA1A):c.6103G>T (p.Ala2035Ser)
|
|
|
NM_001127222.2(CACNA1A):c.6113T>C (p.Met2038Thr)
|
|
|
NM_001127222.2(CACNA1A):c.611A>G (p.Lys204Arg)
|
rs2144559219
|
|
NM_001127222.2(CACNA1A):c.6137G>T (p.Ser2046Ile)
|
|
|
NM_001127222.2(CACNA1A):c.6149G>T (p.Gly2050Val)
|
rs2054848687
|
|
NM_001127222.2(CACNA1A):c.6158C>A (p.Thr2053Asn)
|
|
|
NM_001127222.2(CACNA1A):c.616G>A (p.Val206Met)
|
rs2144559196
|
|
NM_001127222.2(CACNA1A):c.6172A>G (p.Ser2058Gly)
|
|
|
NM_001127222.2(CACNA1A):c.6173G>C (p.Ser2058Thr)
|
rs1600089299
|
|
NM_001127222.2(CACNA1A):c.6181A>C (p.Asn2061His)
|
rs974724726
|
|
NM_001127222.2(CACNA1A):c.6188A>G (p.Gln2063Arg)
|
|
|
NM_001127222.2(CACNA1A):c.6189+10_6189+65del
|
|
|
NM_001127222.2(CACNA1A):c.6189+3G>A
|
|
|
NM_001127222.2(CACNA1A):c.6189+4C>A
|
rs2054846468
|
|
NM_001127222.2(CACNA1A):c.6189+6T>C
|
|
|
NM_001127222.2(CACNA1A):c.6190-8C>T
|
|
|
NM_001127222.2(CACNA1A):c.6199A>G (p.Met2067Val)
|
|
|
NM_001127222.2(CACNA1A):c.6202C>G (p.Arg2068Gly)
|
rs779221807
|
|
NM_001127222.2(CACNA1A):c.6205G>A (p.Glu2069Lys)
|
rs543458967
|
|
NM_001127222.2(CACNA1A):c.6209T>C (p.Met2070Thr)
|
rs2144523250
|
|
NM_001127222.2(CACNA1A):c.620C>T (p.Ser207Phe)
|
|
|
NM_001127222.2(CACNA1A):c.6230A>T (p.Asp2077Val)
|
rs2144523108
|
|
NM_001127222.2(CACNA1A):c.6233G>A (p.Ser2078Asn)
|
|
|
NM_001127222.2(CACNA1A):c.623G>C (p.Gly208Ala)
|
rs2144559143
|
|
NM_001127222.2(CACNA1A):c.6240C>G (p.His2080Gln)
|
rs2054835310
|
|
NM_001127222.2(CACNA1A):c.6247C>T (p.Pro2083Ser)
|
rs1244966977
|
|
NM_001127222.2(CACNA1A):c.6250A>G (p.Met2084Val)
|
rs1451713531
|
|
NM_001127222.2(CACNA1A):c.6263G>C (p.Gly2088Ala)
|
rs759252101
|
|
NM_001127222.2(CACNA1A):c.6271G>A (p.Ala2091Thr)
|
|
|
NM_001127222.2(CACNA1A):c.6275C>A (p.Ser2092Tyr)
|
rs2144522850
|
|
NM_001127222.2(CACNA1A):c.6284G>A (p.Arg2095His)
|
|
|
NM_001127222.2(CACNA1A):c.6292G>C (p.Ala2098Pro)
|
rs2144522708
|
|
NM_001127222.2(CACNA1A):c.6303+3G>A
|
|
|
NM_001127222.2(CACNA1A):c.6303+5G>A
|
|
|
NM_001127222.2(CACNA1A):c.6304-13G>A
|
|
|
NM_001127222.2(CACNA1A):c.6305G>A (p.Arg2102Lys)
|
rs866974416
|
|
NM_001127222.2(CACNA1A):c.631+4C>T
|
rs1568581241
|
|
NM_001127222.2(CACNA1A):c.631+5G>A
|
rs786200963
|
|
NM_001127222.2(CACNA1A):c.6317G>T (p.Arg2106Leu)
|
rs373229577
|
|
NM_001127222.2(CACNA1A):c.632-3C>T
|
|
|
NM_001127222.2(CACNA1A):c.6322C>A (p.Arg2108Ser)
|
rs758498629
|
|
NM_001127222.2(CACNA1A):c.6322C>T (p.Arg2108Cys)
|
|
|
NM_001127222.2(CACNA1A):c.6323G>A (p.Arg2108His)
|
rs867865729
|
|
NM_001127222.2(CACNA1A):c.6339+4T>C
|
rs2054775532
|
|
NM_001127222.2(CACNA1A):c.6339+4T>G
|
|
|
NM_001127222.2(CACNA1A):c.6339+5G>C
|
rs2144513372
|
|
NM_001127222.2(CACNA1A):c.6340-17C>T
|
|
|
NM_001127222.2(CACNA1A):c.6340A>G (p.Thr2114Ala)
|
|
|
NM_001127222.2(CACNA1A):c.6340A>T (p.Thr2114Ser)
|
rs2054722290
|
|
NM_001127222.2(CACNA1A):c.6343_6345dup (p.Ile2115dup)
|
rs2144506658
|
|
NM_001127222.2(CACNA1A):c.6358C>T (p.Pro2120Ser)
|
rs2054721635
|
|
NM_001127222.2(CACNA1A):c.6361A>T (p.Met2121Leu)
|
rs1317004203
|
|
NM_001127222.2(CACNA1A):c.6367C>T (p.Arg2123Cys)
|
rs1255940553
|
|
NM_001127222.2(CACNA1A):c.6368G>A (p.Arg2123His)
|
rs1220294928
|
|
NM_001127222.2(CACNA1A):c.6384G>A (p.Leu2128=)
|
|
|
NM_001127222.2(CACNA1A):c.6385G>C (p.Gly2129Arg)
|
rs1369133711
|
|
NM_001127222.2(CACNA1A):c.6408C>A (p.Asp2136Glu)
|
|
|
NM_001127222.2(CACNA1A):c.6409G>A (p.Asp2137Asn)
|
rs755880731
|
|
NM_001127222.2(CACNA1A):c.6419T>G (p.Leu2140Arg)
|
|
|
NM_001127222.2(CACNA1A):c.6424C>T (p.Arg2142Trp)
|
|
|
NM_001127222.2(CACNA1A):c.6425G>A (p.Arg2142Gln)
|
rs1268148205
|
|
NM_001127222.2(CACNA1A):c.6436GAG[1] (p.Glu2147del)
|
|
|
NM_001127222.2(CACNA1A):c.643G>A (p.Val215Ile)
|
rs1555774867
|
|
NM_001127222.2(CACNA1A):c.6448C>G (p.Arg2150Gly)
|
rs756780624
|
|
NM_001127222.2(CACNA1A):c.6452_6463del (p.His2151_Arg2154del)
|
rs1469809752
|
|
NM_001127222.2(CACNA1A):c.6462_6494del (p.Arg2155_Arg2165del)
|
|
|
NM_001127222.2(CACNA1A):c.6464G>A (p.Arg2155His)
|
rs572722130
|
|
NM_001127222.2(CACNA1A):c.6466C>T (p.Arg2156Cys)
|
rs554393704
|
|
NM_001127222.2(CACNA1A):c.6473G>T (p.Arg2158Leu)
|
|
|
NM_001127222.2(CACNA1A):c.6478C>T (p.His2160Tyr)
|
|
|
NM_001127222.2(CACNA1A):c.6484G>A (p.Ala2162Thr)
|
rs17846928
|
|
NM_001127222.2(CACNA1A):c.64G>A (p.Gly22Arg)
|
|
|
NM_001127222.2(CACNA1A):c.6503G>C (p.Gly2168Ala)
|
|
|
NM_001127222.2(CACNA1A):c.6505C>G (p.Arg2169Gly)
|
rs375354077
|
|
NM_001127222.2(CACNA1A):c.6506G>T (p.Arg2169Leu)
|
rs1417890059
|
|
NM_001127222.2(CACNA1A):c.6512C>T (p.Thr2171Ile)
|
|
|
NM_001127222.2(CACNA1A):c.6514G>A (p.Asp2172Asn)
|
rs370289732
|
|
NM_001127222.2(CACNA1A):c.6514G>T (p.Asp2172Tyr)
|
rs370289732
|
|
NM_001127222.2(CACNA1A):c.6523A>C (p.Thr2175Pro)
|
|
|
NM_001127222.2(CACNA1A):c.6527-7G>A
|
rs1555730686
|
|
NM_001127222.2(CACNA1A):c.6527G>A (p.Gly2176Asp)
|
|
|
NM_001127222.2(CACNA1A):c.6542T>C (p.Leu2181Pro)
|
rs2144502972
|
|
NM_001127222.2(CACNA1A):c.6544A>T (p.Ser2182Cys)
|
|
|
NM_001127222.2(CACNA1A):c.6557A>T (p.Gln2186Leu)
|
|
|
NM_001127222.2(CACNA1A):c.655A>T (p.Ile219Phe)
|
rs2059190992
|
|
NM_001127222.2(CACNA1A):c.6561C>A (p.Ser2187=)
|
rs371116746
|
|
NM_001127222.2(CACNA1A):c.6565G>A (p.Asp2189Asn)
|
rs2144502827
|
|
NM_001127222.2(CACNA1A):c.6565del (p.Asp2189fs)
|
|
|
NM_001127222.2(CACNA1A):c.6572C>A (p.Pro2191Gln)
|
|
|
NM_001127222.2(CACNA1A):c.6584G>T (p.Arg2195Leu)
|
rs373192655
|
|
NM_001127222.2(CACNA1A):c.6587_6598dup (p.Arg2199_Gly2200insAspGlnGluArg)
|
|
|
NM_001127222.2(CACNA1A):c.658A>G (p.Met220Val)
|
|
|
NM_001127222.2(CACNA1A):c.6590_6601dup (p.Gly2200_Arg2201insGlnGluArgGly)
|
|
|
NM_001127222.2(CACNA1A):c.6591G>T (p.Gln2197His)
|
rs2054692765
|
|
NM_001127222.2(CACNA1A):c.6599G>C (p.Gly2200Ala)
|
rs1163864338
|
|
NM_001127222.2(CACNA1A):c.65G>A (p.Gly22Glu)
|
rs1983011989
|
|
NM_001127222.2(CACNA1A):c.65G>C (p.Gly22Ala)
|
rs1983011989
|
|
NM_001127222.2(CACNA1A):c.6609G>C (p.Lys2203Asn)
|
rs1276672646
|
|
NM_001127222.2(CACNA1A):c.6613C>G (p.Arg2205Gly)
|
rs780467849
|
|
NM_001127222.2(CACNA1A):c.6613C>T (p.Arg2205Trp)
|
rs780467849
|
|
NM_001127222.2(CACNA1A):c.6622C>G (p.Arg2208Gly)
|
|
|
NM_001127222.2(CACNA1A):c.6623_6628dup (p.Arg2208_Gln2209dup)
|
rs1247003992
|
|
NM_001127222.2(CACNA1A):c.6623_6631dup (p.Arg2208_His2210dup)
|
rs1305974321
|
|
NM_001127222.2(CACNA1A):c.6627G>C (p.Gln2209His)
|
|
|
NM_001127222.2(CACNA1A):c.6627dup (p.His2210fs)
|
rs1568419053
|
|
NM_001127222.2(CACNA1A):c.6630C>G (p.His2210Gln)
|
rs1006425986
|
|
NM_001127222.2(CACNA1A):c.6630CCA[7] (p.His2218_His2219del)
|
rs759331923
|
|
NM_001127222.2(CACNA1A):c.6633C>G (p.His2211Gln)
|
rs775606907
|
|
NM_001127222.2(CACNA1A):c.6634C>G (p.His2212Asp)
|
|
|
NM_001127222.2(CACNA1A):c.6640C>A (p.His2214Asn)
|
rs905447472
|
|
NM_001127222.2(CACNA1A):c.6641A>G (p.His2214Arg)
|
rs1600079735
|
|
NM_001127222.2(CACNA1A):c.6647_6658del (p.His2216_His2219del)
|
rs770368215
|
|
NM_001127222.2(CACNA1A):c.6649C>T (p.His2217Tyr)
|
rs2054687055
|
|
NM_001127222.2(CACNA1A):c.6650A>T (p.His2217Leu)
|
rs2054686938
|
|
NM_001127222.2(CACNA1A):c.6650_6658del (p.His2217_His2219del)
|
rs776181081
|
|
NM_001127222.2(CACNA1A):c.6652C>T (p.His2218Tyr)
|
|
|
NM_001127222.2(CACNA1A):c.6652_6653insCCCACC (p.His2217_His2218insProHis)
|
|
|
NM_001127222.2(CACNA1A):c.6655C>A (p.His2219Asn)
|
rs1307304917
|
|
NM_001127222.2(CACNA1A):c.6656_6657delinsCC (p.His2219Pro)
|
rs1085307607
|
|
NM_001127222.2(CACNA1A):c.6656_6658del (p.His2219del)
|
rs749638821
|
|
NM_001127222.2(CACNA1A):c.6658_6659insACCACC (p.His2219_Pro2220insHisHis)
|
|
|
NM_001127222.2(CACNA1A):c.6659ACC[3] (p.His2217_His2219dup)
|
rs768950814
|
|
NM_001127222.2(CACNA1A):c.6659ACC[6] (p.His2219_Pro2220insHisHisHisHisHisHis)
|
|
|
NM_001127222.2(CACNA1A):c.6659C>A (p.Pro2220His)
|
rs16052
|
|
NM_001127222.2(CACNA1A):c.6664C>T (p.Pro2222Ser)
|
|
|
NM_001127222.2(CACNA1A):c.6670G>A (p.Asp2224Asn)
|
|
|
NM_001127222.2(CACNA1A):c.6678C>A (p.Asp2226Glu)
|
rs1181604906
|
|
NM_001127222.2(CACNA1A):c.6679C>A (p.Arg2227Ser)
|
|
|
NM_001127222.2(CACNA1A):c.6680G>A (p.Arg2227His)
|
rs1064793075
|
|
NM_001127222.2(CACNA1A):c.6680G>T (p.Arg2227Leu)
|
rs1064793075
|
|
NM_001127222.2(CACNA1A):c.6686C>G (p.Ala2229Gly)
|
|
|
NM_001127222.2(CACNA1A):c.6689A>G (p.Gln2230Arg)
|
rs936533797
|
|
NM_001127222.2(CACNA1A):c.6691del (p.Glu2231fs)
|
rs2144501233
|
|
NM_001127222.2(CACNA1A):c.6696_6697delinsTT (p.Pro2233Ser)
|
|
|
NM_001127222.2(CACNA1A):c.6697C>T (p.Pro2233Ser)
|
|
|
NM_001127222.2(CACNA1A):c.6701A>T (p.Asp2234Val)
|
|
|
NM_001127222.2(CACNA1A):c.6701_6711dup (p.Ala2238fs)
|
|
|
NM_001127222.2(CACNA1A):c.6703C>G (p.His2235Asp)
|
|
|
NM_001127222.2(CACNA1A):c.6703C>T (p.His2235Tyr)
|
rs903913051
|
|
NM_001127222.2(CACNA1A):c.6704A>G (p.His2235Arg)
|
rs758639263
|
|
NM_001127222.2(CACNA1A):c.6706G>T (p.Gly2236Cys)
|
rs752808137
|
|
NM_001127222.2(CACNA1A):c.6710G>A (p.Arg2237Gln)
|
rs765309213
|
|
NM_001127222.2(CACNA1A):c.6710G>T (p.Arg2237Leu)
|
rs765309213
|
|
NM_001127222.2(CACNA1A):c.6710_6719del (p.Arg2237fs)
|
rs1042488847
|
|
NM_001127222.2(CACNA1A):c.6712_6735dup (p.Trp2245_Ser2246insAlaArgAlaArgAspGlnArgTrp)
|
|
|
NM_001127222.2(CACNA1A):c.6714_6719dup (p.2238AR[3])
|
rs1042488847
|
|
NM_001127222.2(CACNA1A):c.6721C>T (p.Arg2241Trp)
|
rs760428308
|
|
NM_001127222.2(CACNA1A):c.6722G>C (p.Arg2241Pro)
|
|
|
NM_001127222.2(CACNA1A):c.6724G>A (p.Asp2242Asn)
|
rs2054681171
|
|
NM_001127222.2(CACNA1A):c.6729G>C (p.Gln2243His)
|
rs774078430
|
|
NM_001127222.2(CACNA1A):c.6729G>T (p.Gln2243His)
|
rs774078430
|
|
NM_001127222.2(CACNA1A):c.6730C>T (p.Arg2244Cys)
|
rs1021438528
|
|
NM_001127222.2(CACNA1A):c.6735G>T (p.Trp2245Cys)
|
rs2054680655
|
|
NM_001127222.2(CACNA1A):c.6739C>T (p.Arg2247Cys)
|
rs1265035474
|
|
NM_001127222.2(CACNA1A):c.6752A>G (p.Glu2251Gly)
|
|
|
NM_001127222.2(CACNA1A):c.6754G>T (p.Gly2252Cys)
|
rs1433873178
|
|
NM_001127222.2(CACNA1A):c.6755G>C (p.Gly2252Ala)
|
|
|
NM_001127222.2(CACNA1A):c.6757C>G (p.Arg2253Gly)
|
|
|
NM_001127222.2(CACNA1A):c.6758G>T (p.Arg2253Leu)
|
rs752950486
|
|
NM_001127222.2(CACNA1A):c.6771G>A (p.Ala2257=)
|
rs753884600
|
|
NM_001127222.2(CACNA1A):c.6773A>G (p.His2258Arg)
|
|
|
NM_001127222.2(CACNA1A):c.6775C>T (p.Arg2259Trp)
|
rs750267834
|
|
NM_001127222.2(CACNA1A):c.6776G>C (p.Arg2259Pro)
|
rs201582095
|
|
NM_001127222.2(CACNA1A):c.6780+3G>C
|
rs1307510001
|
|
NM_001127222.2(CACNA1A):c.6780+8C>A
|
rs774169958
|
|
NM_001127222.2(CACNA1A):c.6784_6788del (p.Ser2262fs)
|
|
|
NM_001127222.2(CACNA1A):c.6785G>A (p.Ser2262Asn)
|
rs2054633316
|
|
NM_001127222.2(CACNA1A):c.685A>G (p.Ile229Val)
|
rs2059190527
|
|
NM_001127222.2(CACNA1A):c.6862del (p.Gln2288fs)
|
rs2144493067
|
|
NM_001127222.2(CACNA1A):c.688G>A (p.Gly230Ser)
|
rs1555774859
|
|
NM_001127222.2(CACNA1A):c.6901C>G (p.Pro2301Ala)
|
rs1351010453
|
|
NM_001127222.2(CACNA1A):c.698T>C (p.Leu233Pro)
|
rs2059190252
|
|
NM_001127222.2(CACNA1A):c.712_726dup (p.Leu238_Ile242dup)
|
rs1568574602
|
|
NM_001127222.2(CACNA1A):c.7136C>T (p.Ser2379Phe)
|
rs2054617641
|
|
NM_001127222.2(CACNA1A):c.7266_7271del (p.Ser2423_Gly2424del)
|
rs775428832
|
|
NM_001127222.2(CACNA1A):c.7316C>T (p.Pro2439Leu)
|
rs1235870142
|
|
NM_001127222.2(CACNA1A):c.7318G>A (p.Val2440Ile)
|
|
|
NM_001127222.2(CACNA1A):c.7348C>T (p.Arg2450Cys)
|
rs1397153104
|
|
NM_001127222.2(CACNA1A):c.7400G>C (p.Arg2467Pro)
|
rs1199275549
|
|
NM_001127222.2(CACNA1A):c.7445T>G (p.Leu2482Arg)
|
rs2144488387
|
|
NM_001127222.2(CACNA1A):c.7485C>G (p.His2495Gln)
|
|
|
NM_001127222.2(CACNA1A):c.760A>G (p.Thr254Ala)
|
rs2059189603
|
|
NM_001127222.2(CACNA1A):c.767G>T (p.Cys256Phe)
|
rs2059189489
|
|
NM_001127222.2(CACNA1A):c.76G>T (p.Gly26Cys)
|
|
|
NM_001127222.2(CACNA1A):c.773A>C (p.Glu258Ala)
|
rs2059189452
|
|
NM_001127222.2(CACNA1A):c.781del (p.Thr261fs)
|
rs2059189334
|
|
NM_001127222.2(CACNA1A):c.784+4G>A
|
|
|
NM_001127222.2(CACNA1A):c.784G>C (p.Asp262His)
|
|
|
NM_001127222.2(CACNA1A):c.785-3T>C
|
rs2145245902
|
|
NM_001127222.2(CACNA1A):c.788A>T (p.Asp263Val)
|
rs2059070159
|
|
NM_001127222.2(CACNA1A):c.79A>G (p.Ser27Gly)
|
|
|
NM_001127222.2(CACNA1A):c.7C>G (p.Arg3Gly)
|
rs1326606155
|
|
NM_001127222.2(CACNA1A):c.800A>G (p.Glu267Gly)
|
|
|
NM_001127222.2(CACNA1A):c.806C>T (p.Pro269Leu)
|
rs763911399
|
|
NM_001127222.2(CACNA1A):c.80G>T (p.Ser27Ile)
|
|
|
NM_001127222.2(CACNA1A):c.832G>A (p.Ala278Thr)
|
rs1013100046
|
|
NM_001127222.2(CACNA1A):c.835C>A (p.Arg279Ser)
|
|
|
NM_001127222.2(CACNA1A):c.851G>T (p.Gly284Val)
|
rs1555773757
|
|
NM_001127222.2(CACNA1A):c.8G>A (p.Arg3His)
|
|
|
NM_001127222.2(CACNA1A):c.938A>G (p.Gln313Arg)
|
|
|
NM_001127222.2(CACNA1A):c.967C>G (p.Leu323Val)
|
|
|
NM_001127222.2(CACNA1A):c.97G>T (p.Ala33Ser)
|
rs749474997
|
|
NM_001127222.2(CACNA1A):c.981C>G (p.Ser327Arg)
|
|
|
NM_001127222.2(CACNA1A):c.985G>A (p.Asp329Asn)
|
rs1353041373
|
|
NM_001127222.2(CACNA1A):c.985G>C (p.Asp329His)
|
rs1353041373
|
|
NM_001127222.2(CACNA1A):c.998A>G (p.Asn333Ser)
|
|
|
NM_001134707.2(SARDH):c.1442G>A (p.Arg481His)
|
|
|
NM_001134831.2(AHI1):c.2258A>T (p.Asp753Val)
|
rs1562758269
|
|
NM_001142800.2(EYS):c.-333G>T
|
rs1038300996
|
|
NM_001142800.2(EYS):c.-350G>A
|
rs886061687
|
|
NM_001142800.2(EYS):c.-407C>G
|
rs137924872
|
|
NM_001142800.2(EYS):c.-497C>T
|
rs184368442
|
|
NM_001142800.2(EYS):c.-82T>C
|
rs1766226162
|
|
NM_001142800.2(EYS):c.1018C>T (p.Pro340Ser)
|
rs1766677062
|
|
NM_001142800.2(EYS):c.1185-3C>T
|
rs1562140876
|
|
NM_001142800.2(EYS):c.1185-6T>G
|
rs565046666
|
|
NM_001142800.2(EYS):c.1232A>G (p.His411Arg)
|
rs886061685
|
|
NM_001142800.2(EYS):c.1274G>A (p.Cys425Tyr)
|
rs1064796021
|
|
NM_001142800.2(EYS):c.1299+5_1299+8del
|
rs1562140604
|
|
NM_001142800.2(EYS):c.1418G>T (p.Gly473Val)
|
rs540611114
|
|
NM_001142800.2(EYS):c.1497C>T (p.Ala499=)
|
rs1300237940
|
|
NM_001142800.2(EYS):c.1549C>T (p.Pro517Ser)
|
rs763331925
|
|
NM_001142800.2(EYS):c.1613G>T (p.Gly538Val)
|
rs530200433
|
|
NM_001142800.2(EYS):c.1675G>A (p.Ala559Thr)
|
rs1769934918
|
|
NM_001142800.2(EYS):c.1750G>A (p.Glu584Lys)
|
rs527236072
|
|
NM_001142800.2(EYS):c.1767-3C>G
|
rs1768658375
|
|
NM_001142800.2(EYS):c.1786T>C (p.Tyr596His)
|
rs1409350172
|
|
NM_001142800.2(EYS):c.1790T>C (p.Ile597Thr)
|
rs1481056736
|
|
NM_001142800.2(EYS):c.1902A>G (p.Arg634=)
|
rs1768652347
|
|
NM_001142800.2(EYS):c.2000G>A (p.Arg667His)
|
rs549456693
|
|
NM_001142800.2(EYS):c.2000G>C (p.Arg667Pro)
|
rs549456693
|
|
NM_001142800.2(EYS):c.2000G>T (p.Arg667Leu)
|
rs549456693
|
|
NM_001142800.2(EYS):c.2023+5G>T
|
rs1287889008
|
|
NM_001142800.2(EYS):c.2077G>A (p.Gly693Arg)
|
rs1258209665
|
|
NM_001142800.2(EYS):c.2287T>G (p.Trp763Gly)
|
rs886061684
|
|
NM_001142800.2(EYS):c.2465G>A (p.Gly822Asp)
|
rs1768037499
|
|
NM_001142800.2(EYS):c.2483C>G (p.Thr828Ser)
|
rs1768037062
|
|
NM_001142800.2(EYS):c.2525C>A (p.Thr842Asn)
|
rs1768034633
|
|
NM_001142800.2(EYS):c.2614G>C (p.Ala872Pro)
|
rs957725168
|
|
NM_001142800.2(EYS):c.2641+13A>G
|
rs1768029318
|
|
NM_001142800.2(EYS):c.2828G>A (p.Cys943Tyr)
|
rs986462667
|
|
NM_001142800.2(EYS):c.2837T>C (p.Leu946Pro)
|
rs1767685290
|
|
NM_001142800.2(EYS):c.2950A>G (p.Arg984Gly)
|
rs1030671986
|
|
NM_001142800.2(EYS):c.2975G>T (p.Cys992Phe)
|
rs566917467
|
|
NM_001142800.2(EYS):c.2992+9A>G
|
rs886061680
|
|
NM_001142800.2(EYS):c.3010A>G (p.Asn1004Asp)
|
rs781222768
|
|
NM_001142800.2(EYS):c.3072T>A (p.Asn1024Lys)
|
rs2150022753
|
|
NM_001142800.2(EYS):c.3089G>C (p.Cys1030Ser)
|
rs1764936871
|
|
NM_001142800.2(EYS):c.3112_3113insTCTTTGGAACAC (p.Thr1037_His1038insLeuPheGlyThr)
|
rs1554207076
|
|
NM_001142800.2(EYS):c.3265A>G (p.Met1089Val)
|
rs1764663420
|
|
NM_001142800.2(EYS):c.334G>C (p.Val112Leu)
|
rs112609906
|
|
NM_001142800.2(EYS):c.3352A>G (p.Ile1118Val)
|
rs886061679
|
|
NM_001142800.2(EYS):c.3353T>C (p.Ile1118Thr)
|
rs1412311460
|
|
NM_001142800.2(EYS):c.3444A>T (p.Arg1148Ser)
|
rs1377722024
|
|
NM_001142800.2(EYS):c.3473G>A (p.Cys1158Tyr)
|
|
|
NM_001142800.2(EYS):c.362A>G (p.Glu121Gly)
|
rs1766196909
|
|
NM_001142800.2(EYS):c.3634T>C (p.Cys1212Arg)
|
rs536260976
|
|
NM_001142800.2(EYS):c.3684+2T>A
|
rs1562094391
|
|
NM_001142800.2(EYS):c.3690C>T (p.Cys1230=)
|
rs886061678
|
|
NM_001142800.2(EYS):c.3694A>G (p.Ile1232Val)
|
rs190009374
|
|
NM_001142800.2(EYS):c.3855G>T (p.Met1285Ile)
|
rs886061677
|
|
NM_001142800.2(EYS):c.386G>C (p.Arg129Thr)
|
rs1224551754
|
|
NM_001142800.2(EYS):c.3878G>A (p.Gly1293Asp)
|
rs763158109
|
|
NM_001142800.2(EYS):c.3905A>G (p.His1302Arg)
|
rs886061676
|
|
NM_001142800.2(EYS):c.3949A>G (p.Thr1317Ala)
|
rs1766425037
|
|
NM_001142800.2(EYS):c.4261G>C (p.Ala1421Pro)
|
rs545171658
|
|
NM_001142800.2(EYS):c.4290C>G (p.Ser1430Arg)
|
rs2149832263
|
|
NM_001142800.2(EYS):c.4393G>T (p.Ala1465Ser)
|
rs747921119
|
|
NM_001142800.2(EYS):c.4409A>T (p.Glu1470Val)
|
rs555692190
|
|
NM_001142800.2(EYS):c.4530A>T (p.Ser1510=)
|
rs1582929801
|
|
NM_001142800.2(EYS):c.4606C>A (p.Gln1536Lys)
|
rs557152369
|
|
NM_001142800.2(EYS):c.4607A>G (p.Gln1536Arg)
|
rs528387472
|
|
NM_001142800.2(EYS):c.4663A>G (p.Thr1555Ala)
|
rs886061674
|
|
NM_001142800.2(EYS):c.4721T>C (p.Val1574Ala)
|
rs1766395456
|
|
NM_001142800.2(EYS):c.4943C>A (p.Ser1648Tyr)
|
|
|
NM_001142800.2(EYS):c.5087A>C (p.Glu1696Ala)
|
rs1766380689
|
|
NM_001142800.2(EYS):c.525_527del (p.Glu176del)
|
rs780433094
|
|
NM_001142800.2(EYS):c.5333C>T (p.Thr1778Ile)
|
rs566440637
|
|
NM_001142800.2(EYS):c.536G>A (p.Ser179Asn)
|
rs1766186895
|
|
NM_001142800.2(EYS):c.5401G>A (p.Ala1801Thr)
|
rs751705317
|
|
NM_001142800.2(EYS):c.5409A>G (p.Ser1803=)
|
rs886061673
|
|
NM_001142800.2(EYS):c.5436A>C (p.Val1812=)
|
rs1376017497
|
|
NM_001142800.2(EYS):c.5479C>G (p.Leu1827Val)
|
rs746509889
|
|
NM_001142800.2(EYS):c.5600C>T (p.Ser1867Phe)
|
rs542339299
|
|
NM_001142800.2(EYS):c.5728G>A (p.Glu1910Lys)
|
rs867380219
|
|
NM_001142800.2(EYS):c.5782A>G (p.Asn1928Asp)
|
rs1432152673
|
|
NM_001142800.2(EYS):c.5839C>T (p.His1947Tyr)
|
rs1774743807
|
|
NM_001142800.2(EYS):c.5866T>G (p.Phe1956Val)
|
rs1269786039
|
|
NM_001142800.2(EYS):c.5884A>G (p.Thr1962Ala)
|
rs2150463938
|
|
NM_001142800.2(EYS):c.602A>G (p.His201Arg)
|
rs1011260787
|
|
NM_001142800.2(EYS):c.6079-24TC[12]
|
rs35395170
|
|
NM_001142800.2(EYS):c.6079-24TC[8]
|
rs35395170
|
|
NM_001142800.2(EYS):c.6082C>G (p.Pro2028Ala)
|
rs1769479599
|
|
NM_001142800.2(EYS):c.6112A>G (p.Ile2038Val)
|
rs553772732
|
|
NM_001142800.2(EYS):c.6116A>T (p.Glu2039Val)
|
rs2150375987
|
|
NM_001142800.2(EYS):c.613C>T (p.Pro205Ser)
|
rs1554202833
|
|
NM_001142800.2(EYS):c.6214C>G (p.Pro2072Ala)
|
rs1766405253
|
|
NM_001142800.2(EYS):c.6296C>T (p.Ala2099Val)
|
rs2150337999
|
|
NM_001142800.2(EYS):c.6461C>G (p.Ser2154Cys)
|
rs1771988273
|
|
NM_001142800.2(EYS):c.6575A>T (p.Asn2192Ile)
|
rs750904267
|
|
NM_001142800.2(EYS):c.6602T>C (p.Leu2201Pro)
|
rs2149855751
|
|
NM_001142800.2(EYS):c.6725G>A (p.Arg2242His)
|
rs1771368413
|
|
NM_001142800.2(EYS):c.6772A>G (p.Met2258Val)
|
rs1767966521
|
|
NM_001142800.2(EYS):c.683G>T (p.Cys228Phe)
|
rs999213534
|
|
NM_001142800.2(EYS):c.6899G>T (p.Gly2300Val)
|
rs531588707
|
|
NM_001142800.2(EYS):c.6904G>C (p.Val2302Leu)
|
|
|
NM_001142800.2(EYS):c.6934C>T (p.Leu2312Phe)
|
rs564315274
|
|
NM_001142800.2(EYS):c.7047C>A (p.Thr2349=)
|
rs1767253468
|
|
NM_001142800.2(EYS):c.7073_7081dup (p.Phe2358_Glu2360dup)
|
rs1372494388
|
|
NM_001142800.2(EYS):c.7117G>C (p.Ala2373Pro)
|
rs372512515
|
|
NM_001142800.2(EYS):c.7202G>C (p.Gly2401Ala)
|
rs886061670
|
|
NM_001142800.2(EYS):c.7205G>A (p.Arg2402Lys)
|
rs766515998
|
|
NM_001142800.2(EYS):c.7228G>T (p.Ala2410Ser)
|
rs915505702
|
|
NM_001142800.2(EYS):c.7251G>T (p.Arg2417Ser)
|
rs572836860
|
|
NM_001142800.2(EYS):c.732T>A (p.Cys244Ter)
|
rs1562220891
|
|
NM_001142800.2(EYS):c.7366G>A (p.Ala2456Thr)
|
rs2149678928
|
|
NM_001142800.2(EYS):c.7423G>A (p.Asp2475Asn)
|
rs140594243
|
|
NM_001142800.2(EYS):c.7480G>A (p.Gly2494Arg)
|
rs1483377268
|
|
NM_001142800.2(EYS):c.7620A>C (p.Arg2540Ser)
|
rs886061667
|
|
NM_001142800.2(EYS):c.7684C>G (p.Leu2562Val)
|
rs1770414327
|
|
NM_001142800.2(EYS):c.7737T>G (p.Thr2579=)
|
rs191846522
|
|
NM_001142800.2(EYS):c.7748G>C (p.Arg2583Pro)
|
rs564020009
|
|
NM_001142800.2(EYS):c.7826G>C (p.Cys2609Ser)
|
rs755966517
|
|
NM_001142800.2(EYS):c.7899-8A>G
|
rs1769675220
|
|
NM_001142800.2(EYS):c.7915G>A (p.Gly2639Arg)
|
rs778077385
|
|
NM_001142800.2(EYS):c.8104A>C (p.Asn2702His)
|
rs1768627778
|
|
NM_001142800.2(EYS):c.8128G>T (p.Ala2710Ser)
|
rs750011709
|
|
NM_001142800.2(EYS):c.8151G>T (p.Lys2717Asn)
|
rs983603381
|
|
NM_001142800.2(EYS):c.8203T>C (p.Tyr2735His)
|
rs1768623493
|
|
NM_001142800.2(EYS):c.8210C>T (p.Ala2737Val)
|
rs1481779086
|
|
NM_001142800.2(EYS):c.8211A>C (p.Ala2737=)
|
rs1011193191
|
|
NM_001142800.2(EYS):c.8230T>C (p.Ser2744Pro)
|
rs1768622052
|
|
NM_001142800.2(EYS):c.8239T>G (p.Phe2747Val)
|
rs1279860809
|
|
NM_001142800.2(EYS):c.8326G>C (p.Val2776Leu)
|
rs886061664
|
|
NM_001142800.2(EYS):c.8368A>G (p.Arg2790Gly)
|
rs1554163993
|
|
NM_001142800.2(EYS):c.847G>A (p.Asp283Asn)
|
rs1766003671
|
|
NM_001142800.2(EYS):c.8519A>G (p.Glu2840Gly)
|
rs1554163965
|
|
NM_001142800.2(EYS):c.8611G>A (p.Val2871Ile)
|
rs948892214
|
|
NM_001142800.2(EYS):c.8618A>G (p.Asp2873Gly)
|
rs1554163939
|
|
NM_001142800.2(EYS):c.863-4dup
|
rs199517256
|
|
NM_001142800.2(EYS):c.8815T>C (p.Cys2939Arg)
|
rs2149624604
|
|
NM_001142800.2(EYS):c.8816G>A (p.Cys2939Tyr)
|
rs1582139965
|
|
NM_001142800.2(EYS):c.8830G>A (p.Val2944Met)
|
rs1335320588
|
|
NM_001142800.2(EYS):c.8846A>T (p.Glu2949Val)
|
rs1768370055
|
|
NM_001142800.2(EYS):c.8959A>G (p.Ser2987Gly)
|
rs2149624309
|
|
NM_001142800.2(EYS):c.9012_9020del (p.Glu3004_Asn3006del)
|
rs1768361133
|
|
NM_001142800.2(EYS):c.9101A>G (p.Tyr3034Cys)
|
rs779289332
|
|
NM_001142800.2(EYS):c.910T>C (p.Trp304Arg)
|
rs2150365572
|
|
NM_001142800.2(EYS):c.9181A>T (p.Asn3061Tyr)
|
rs1561993477
|
|
NM_001142800.2(EYS):c.9197T>C (p.Leu3066Pro)
|
|
|
NM_001142800.2(EYS):c.919G>A (p.Gly307Arg)
|
rs1766684069
|
|
NM_001142800.2(EYS):c.9202G>A (p.Glu3068Lys)
|
rs1241787129
|
|
NM_001142800.2(EYS):c.953A>C (p.Tyr318Ser)
|
rs772989862
|
|
NM_001184880.2(PCDH19):c.1810A>G (p.Thr604Ala)
|
rs1928365372
|
|
NM_001195087.2(GGACT):c.*1774G>A
|
rs41281124
|
|
NM_001195087.2(GGACT):c.*1873T>C
|
rs2088307404
|
|
NM_001201543.2(FAM161A):c.*1349A>G
|
rs886056214
|
|
NM_001201543.2(FAM161A):c.*44G>A
|
rs745524377
|
|
NM_001201543.2(FAM161A):c.*44G>C
|
rs745524377
|
|
NM_001201543.2(FAM161A):c.*519C>A
|
rs535265888
|
|
NM_001201543.2(FAM161A):c.*525G>T
|
rs1672343350
|
|
NM_001201543.2(FAM161A):c.1097G>T (p.Gly366Val)
|
rs1386308138
|
|
NM_001201543.2(FAM161A):c.1212T>G (p.Cys404Trp)
|
rs4672457
|
|
NM_001201543.2(FAM161A):c.1238A>C (p.Glu413Ala)
|
rs748095219
|
|
NM_001201543.2(FAM161A):c.1368A>G (p.Pro456=)
|
rs1558483269
|
|
NM_001201543.2(FAM161A):c.1401T>G (p.Ile467Met)
|
rs1290409340
|
|
NM_001201543.2(FAM161A):c.1408G>C (p.Glu470Gln)
|
rs554664966
|
|
NM_001201543.2(FAM161A):c.1484G>A (p.Arg495His)
|
rs201998260
|
|
NM_001201543.2(FAM161A):c.148GAG[2] (p.Glu52del)
|
rs528451151
|
|
NM_001201543.2(FAM161A):c.149A>G (p.Glu50Gly)
|
rs1673585446
|
|
NM_001201543.2(FAM161A):c.1579G>T (p.Val527Leu)
|
rs372121322
|
|
NM_001201543.2(FAM161A):c.1688C>G (p.Ala563Gly)
|
rs1672859918
|
|
NM_001201543.2(FAM161A):c.1815A>T (p.Leu605Phe)
|
rs372597586
|
|
NM_001201543.2(FAM161A):c.1841G>A (p.Arg614Lys)
|
rs886056218
|
|
NM_001201543.2(FAM161A):c.1971T>G (p.Asn657Lys)
|
rs867264184
|
|
NM_001201543.2(FAM161A):c.2032G>T (p.Glu678Ter)
|
|
|
NM_001201543.2(FAM161A):c.2080G>C (p.Asp694His)
|
rs1672373216
|
|
NM_001201543.2(FAM161A):c.2121AGA[1] (p.Glu709del)
|
rs558080743
|
|
NM_001201543.2(FAM161A):c.2T>C (p.Met1Thr)
|
rs1673593434
|
|
NM_001201543.2(FAM161A):c.302A>G (p.Glu101Gly)
|
rs756780634
|
|
NM_001201543.2(FAM161A):c.435A>C (p.Glu145Asp)
|
rs202022070
|
|
NM_001201543.2(FAM161A):c.516C>G (p.Ser172=)
|
rs767300885
|
|
NM_001201543.2(FAM161A):c.595A>G (p.Ile199Val)
|
rs1672974919
|
|
NM_001201543.2(FAM161A):c.721C>A (p.Pro241Thr)
|
rs531709417
|
|
NM_001201543.2(FAM161A):c.82G>A (p.Ala28Thr)
|
rs550422472
|
|
NM_001201543.2(FAM161A):c.934G>C (p.Glu312Gln)
|
rs1166920376
|
|
NM_001242957.3(MAK):c.1597+13T>A
|
rs1773369108
|
|
NM_001242957.3(MAK):c.1673-15A>G
|
rs1772880607
|
|
NM_001242957.3(MAK):c.1930T>C (p.Tyr644His)
|
rs1581624496
|
|
NM_001242957.3(MAK):c.358+12T>C
|
rs200703968
|
|
NM_001243279.3(ACSF3):c.-10T>G
|
rs781454948
|
|
NM_001243279.3(ACSF3):c.-8T>A
|
rs1210097201
|
|
NM_001243279.3(ACSF3):c.1016T>C (p.Val339Ala)
|
|
|
NM_001243279.3(ACSF3):c.1043G>A (p.Gly348Asp)
|
rs371034681
|
|
NM_001243279.3(ACSF3):c.1052T>C (p.Leu351Pro)
|
|
|
NM_001243279.3(ACSF3):c.1056G>C (p.Leu352=)
|
rs1904683576
|
|
NM_001243279.3(ACSF3):c.1060C>T (p.Arg354Trp)
|
rs761084443
|
|
NM_001243279.3(ACSF3):c.1073C>T (p.Thr358Ile)
|
rs387907120
|
|
NM_001243279.3(ACSF3):c.110T>A (p.Val37Glu)
|
|
|
NM_001243279.3(ACSF3):c.1117C>G (p.Arg373Gly)
|
rs144907664
|
|
NM_001243279.3(ACSF3):c.1117C>T (p.Arg373Cys)
|
|
|
NM_001243279.3(ACSF3):c.1121T>C (p.Leu374Pro)
|
rs1904713918
|
|
NM_001243279.3(ACSF3):c.1126+5G>A
|
|
|
NM_001243279.3(ACSF3):c.1126+5G>C
|
|
|
NM_001243279.3(ACSF3):c.1127-9C>T
|
rs536593488
|
|
NM_001243279.3(ACSF3):c.1145T>C (p.Leu382Pro)
|
rs781134234
|
|
NM_001243279.3(ACSF3):c.1162C>T (p.Arg388Cys)
|
|
|
NM_001243279.3(ACSF3):c.11A>G (p.His4Arg)
|
|
|
NM_001243279.3(ACSF3):c.1280T>C (p.Val427Ala)
|
|
|
NM_001243279.3(ACSF3):c.1292C>A (p.Ser431Tyr)
|
rs1057520194
|
|
NM_001243279.3(ACSF3):c.1301G>C (p.Arg434Pro)
|
rs137995833
|
|
NM_001243279.3(ACSF3):c.135G>A (p.Pro45=)
|
rs775551806
|
|
NM_001243279.3(ACSF3):c.1367-464C>T
|
rs2151560692
|
|
NM_001243279.3(ACSF3):c.1376T>C (p.Val459Ala)
|
|
|
NM_001243279.3(ACSF3):c.1385_1407delinsCGGAT (p.Lys462_Arg469delinsThrAsp)
|
|
|
NM_001243279.3(ACSF3):c.1402A>C (p.Ile468Leu)
|
|
|
NM_001243279.3(ACSF3):c.1406G>A (p.Arg469Gln)
|
rs144681140
|
|
NM_001243279.3(ACSF3):c.1465G>T (p.Val489Leu)
|
rs377596983
|
|
NM_001243279.3(ACSF3):c.1494C>G (p.Ser498Arg)
|
|
|
NM_001243279.3(ACSF3):c.149C>T (p.Ala50Val)
|
rs1187720594
|
|
NM_001243279.3(ACSF3):c.1500A>G (p.Thr500=)
|
|
|
NM_001243279.3(ACSF3):c.1501+4C>T
|
|
|
NM_001243279.3(ACSF3):c.1516G>A (p.Gly506Arg)
|
|
|
NM_001243279.3(ACSF3):c.1535G>T (p.Trp512Leu)
|
rs1450563045
|
|
NM_001243279.3(ACSF3):c.1555G>A (p.Val519Met)
|
|
|
NM_001243279.3(ACSF3):c.1571A>G (p.Glu524Gly)
|
rs755493108
|
|
NM_001243279.3(ACSF3):c.159T>G (p.Phe53Leu)
|
|
|
NM_001243279.3(ACSF3):c.1607G>C (p.Trp536Ser)
|
rs779820462
|
|
NM_001243279.3(ACSF3):c.1613+11_1613+12insGGGG
|
rs1912893103
|
|
NM_001243279.3(ACSF3):c.1613+7C>G
|
rs1179755069
|
|
NM_001243279.3(ACSF3):c.1613+7_1613+8del
|
rs1912892212
|
|
NM_001243279.3(ACSF3):c.1613+8T>A
|
rs1358602745
|
|
NM_001243279.3(ACSF3):c.1618G>C (p.Val540Leu)
|
rs570670205
|
|
NM_001243279.3(ACSF3):c.1673G>C (p.Arg558Pro)
|
rs140328142
|
|
NM_001243279.3(ACSF3):c.1711A>G (p.Arg571Gly)
|
rs1448355025
|
|
NM_001243279.3(ACSF3):c.1715A>C (p.His572Pro)
|
|
|
NM_001243279.3(ACSF3):c.1720del (p.His574fs)
|
|
|
NM_001243279.3(ACSF3):c.198C>G (p.His66Gln)
|
|
|
NM_001243279.3(ACSF3):c.200C>T (p.Thr67Met)
|
|
|
NM_001243279.3(ACSF3):c.217T>C (p.Ser73Pro)
|
|
|
NM_001243279.3(ACSF3):c.220C>T (p.Arg74Cys)
|
|
|
NM_001243279.3(ACSF3):c.243G>C (p.Glu81Asp)
|
|
|
NM_001243279.3(ACSF3):c.251G>A (p.Arg84Lys)
|
rs373476048
|
|
NM_001243279.3(ACSF3):c.278T>G (p.Leu93Arg)
|
|
|
NM_001243279.3(ACSF3):c.280C>T (p.Arg94Trp)
|
rs530503915
|
|
NM_001243279.3(ACSF3):c.283G>C (p.Glu95Gln)
|
rs751929678
|
|
NM_001243279.3(ACSF3):c.291G>C (p.Arg97Ser)
|
rs1299639090
|
|
NM_001243279.3(ACSF3):c.315_316delinsCT (p.Ala106Ser)
|
rs2151406892
|
|
NM_001243279.3(ACSF3):c.328G>A (p.Val110Met)
|
|
|
NM_001243279.3(ACSF3):c.32G>T (p.Arg11Leu)
|
rs781163359
|
|
NM_001243279.3(ACSF3):c.335A>C (p.Gln112Pro)
|
|
|
NM_001243279.3(ACSF3):c.371C>G (p.Pro124Arg)
|
rs1292276846
|
|
NM_001243279.3(ACSF3):c.399G>C (p.Gln133His)
|
rs370968781
|
|
NM_001243279.3(ACSF3):c.414C>G (p.Ile138Met)
|
|
|
NM_001243279.3(ACSF3):c.428G>T (p.Ser143Ile)
|
|
|
NM_001243279.3(ACSF3):c.44C>A (p.Ala15Asp)
|
|
|
NM_001243279.3(ACSF3):c.473C>T (p.Pro158Leu)
|
|
|
NM_001243279.3(ACSF3):c.491G>A (p.Gly164Glu)
|
rs747228733
|
|
NM_001243279.3(ACSF3):c.49G>A (p.Ala17Thr)
|
|
|
NM_001243279.3(ACSF3):c.538G>C (p.Glu180Gln)
|
|
|
NM_001243279.3(ACSF3):c.541G>A (p.Glu181Lys)
|
rs1567685421
|
|
NM_001243279.3(ACSF3):c.557C>T (p.Pro186Leu)
|
rs376098216
|
|
NM_001243279.3(ACSF3):c.58C>T (p.Arg20Trp)
|
|
|
NM_001243279.3(ACSF3):c.618G>A (p.Thr206=)
|
rs753012038
|
|
NM_001243279.3(ACSF3):c.623G>A (p.Arg208Lys)
|
|
|
NM_001243279.3(ACSF3):c.628A>C (p.Lys210Gln)
|
rs538548478
|
|
NM_001243279.3(ACSF3):c.638T>C (p.Leu213Pro)
|
|
|
NM_001243279.3(ACSF3):c.667-9C>T
|
rs369865917
|
|
NM_001243279.3(ACSF3):c.671C>T (p.Thr224Ile)
|
|
|
NM_001243279.3(ACSF3):c.682C>G (p.His228Asp)
|
rs1597898108
|
|
NM_001243279.3(ACSF3):c.691G>A (p.Ala231Thr)
|
rs765454020
|
|
NM_001243279.3(ACSF3):c.709G>A (p.Val237Met)
|
|
|
NM_001243279.3(ACSF3):c.743A>G (p.His248Arg)
|
|
|
NM_001243279.3(ACSF3):c.746G>A (p.Gly249Asp)
|
|
|
NM_001243279.3(ACSF3):c.755A>G (p.Asn252Ser)
|
|
|
NM_001243279.3(ACSF3):c.755A>T (p.Asn252Ile)
|
|
|
NM_001243279.3(ACSF3):c.757G>A (p.Ala253Thr)
|
|
|
NM_001243279.3(ACSF3):c.758C>A (p.Ala253Glu)
|
|
|
NM_001243279.3(ACSF3):c.782G>C (p.Gly261Ala)
|
rs1277612080
|
|
NM_001243279.3(ACSF3):c.799A>G (p.Met267Val)
|
|
|
NM_001243279.3(ACSF3):c.825T>C (p.Val275=)
|
rs751299343
|
|
NM_001243279.3(ACSF3):c.845C>G (p.Ser282Cys)
|
|
|
NM_001243279.3(ACSF3):c.851C>T (p.Thr284Met)
|
|
|
NM_001243279.3(ACSF3):c.856C>T (p.Arg286Trp)
|
|
|
NM_001243279.3(ACSF3):c.862A>G (p.Asn288Asp)
|
|
|
NM_001243279.3(ACSF3):c.880C>T (p.Pro294Ser)
|
|
|
NM_001243279.3(ACSF3):c.915C>G (p.Asp305Glu)
|
|
|
NM_001243279.3(ACSF3):c.91C>T (p.Leu31Phe)
|
rs1975195262
|
|
NM_001243279.3(ACSF3):c.92T>C (p.Leu31Pro)
|
|
|
NM_001243279.3(ACSF3):c.952C>A (p.Arg318Ser)
|
|
|
NM_001243279.3(ACSF3):c.952C>T (p.Arg318Cys)
|
|
|
NM_001244926.2(PRPF4):c.654+4A>T
|
rs556015541
|
|
NM_001244926.2(PRPF4):c.750-11G>A
|
|
|
NM_001258392.3(CLPB):c.1008T>G (p.Asn336Lys)
|
rs2135512797
|
|
NM_001258392.3(CLPB):c.1024G>A (p.Glu342Lys)
|
|
|
NM_001258392.3(CLPB):c.1027C>T (p.His343Tyr)
|
|
|
NM_001258392.3(CLPB):c.1067-3T>C
|
|
|
NM_001258392.3(CLPB):c.1094C>A (p.Ala365Asp)
|
|
|
NM_001258392.3(CLPB):c.109G>C (p.Val37Leu)
|
rs773901608
|
|
NM_001258392.3(CLPB):c.1102A>G (p.Met368Val)
|
|
|
NM_001258392.3(CLPB):c.1123-3C>A
|
|
|
NM_001258392.3(CLPB):c.1147G>A (p.Glu383Lys)
|
rs1949671839
|
|
NM_001258392.3(CLPB):c.1164C>G (p.His388Gln)
|
rs202009794
|
|
NM_001258392.3(CLPB):c.1167+3G>T
|
|
|
NM_001258392.3(CLPB):c.1168-3C>G
|
|
|
NM_001258392.3(CLPB):c.1181T>C (p.Ile394Thr)
|
|
|
NM_001258392.3(CLPB):c.1184G>A (p.Gly395Glu)
|
|
|
NM_001258392.3(CLPB):c.1201G>A (p.Val401Ile)
|
|
|
NM_001258392.3(CLPB):c.1202T>C (p.Val401Ala)
|
rs138691107
|
|
NM_001258392.3(CLPB):c.1205G>C (p.Gly402Ala)
|
|
|
NM_001258392.3(CLPB):c.1214A>T (p.Glu405Val)
|
rs1590764241
|
|
NM_001258392.3(CLPB):c.1252A>C (p.Asn418His)
|
|
|
NM_001258392.3(CLPB):c.1283A>G (p.Lys428Arg)
|
|
|
NM_001258392.3(CLPB):c.1291C>T (p.Pro431Ser)
|
|
|
NM_001258392.3(CLPB):c.1297G>A (p.Val433Met)
|
|
|
NM_001258392.3(CLPB):c.1300C>T (p.Leu434Phe)
|
rs758030499
|
|
NM_001258392.3(CLPB):c.131A>C (p.Glu44Ala)
|
|
|
NM_001258392.3(CLPB):c.1409A>G (p.Asp470Gly)
|
rs1365431764
|
|
NM_001258392.3(CLPB):c.1413G>C (p.Glu471Asp)
|
rs780612425
|
|
NM_001258392.3(CLPB):c.1417G>A (p.Ala473Thr)
|
|
|
NM_001258392.3(CLPB):c.1427C>A (p.Ala476Glu)
|
rs2135487981
|
|
NM_001258392.3(CLPB):c.142C>G (p.Leu48Val)
|
rs1856650498
|
|
NM_001258392.3(CLPB):c.1453G>A (p.Glu485Lys)
|
rs143522576
|
|
NM_001258392.3(CLPB):c.1482C>G (p.Asn494Lys)
|
rs779812366
|
|
NM_001258392.3(CLPB):c.1484T>C (p.Leu495Pro)
|
|
|
NM_001258392.3(CLPB):c.1485G>A (p.Leu495=)
|
rs1949534031
|
|
NM_001258392.3(CLPB):c.1489G>A (p.Asp497Asn)
|
|
|
NM_001258392.3(CLPB):c.1489G>C (p.Asp497His)
|
rs918777173
|
|
NM_001258392.3(CLPB):c.148G>T (p.Val50Leu)
|
|
|
NM_001258392.3(CLPB):c.1492G>A (p.Val498Ile)
|
rs2135486440
|
|
NM_001258392.3(CLPB):c.1495C>A (p.Gln499Lys)
|
|
|
NM_001258392.3(CLPB):c.1497G>C (p.Gln499His)
|
rs577566573
|
|
NM_001258392.3(CLPB):c.1514C>G (p.Thr505Ser)
|
rs200812003
|
|
NM_001258392.3(CLPB):c.1514C>T (p.Thr505Ile)
|
rs200812003
|
|
NM_001258392.3(CLPB):c.1530C>G (p.Phe510Leu)
|
rs778078736
|
|
NM_001258392.3(CLPB):c.1552A>C (p.Ile518Leu)
|
|
|
NM_001258392.3(CLPB):c.1552A>G (p.Ile518Val)
|
rs1949516441
|
|
NM_001258392.3(CLPB):c.1574G>A (p.Arg525Lys)
|
|
|
NM_001258392.3(CLPB):c.1579G>A (p.Glu527Lys)
|
rs1590753263
|
|
NM_001258392.3(CLPB):c.157G>A (p.Gly53Arg)
|
|
|
NM_001258392.3(CLPB):c.157G>T (p.Gly53Trp)
|
|
|
NM_001258392.3(CLPB):c.158G>C (p.Gly53Ala)
|
|
|
NM_001258392.3(CLPB):c.1591C>T (p.Arg531Trp)
|
rs1949512456
|
|
NM_001258392.3(CLPB):c.1592G>A (p.Arg531Gln)
|
rs1590753221
|
|
NM_001258392.3(CLPB):c.1598A>G (p.Asn533Ser)
|
|
|
NM_001258392.3(CLPB):c.1610A>C (p.Tyr537Ser)
|
rs150857620
|
|
NM_001258392.3(CLPB):c.1610A>G (p.Tyr537Cys)
|
rs150857620
|
|
NM_001258392.3(CLPB):c.1610A>T (p.Tyr537Phe)
|
|
|
NM_001258392.3(CLPB):c.1631C>G (p.Ser544Trp)
|
rs1430716011
|
|
NM_001258392.3(CLPB):c.1632G>A (p.Ser544=)
|
|
|
NM_001258392.3(CLPB):c.1640T>C (p.Ile547Thr)
|
|
|
NM_001258392.3(CLPB):c.1648G>A (p.Val550Ile)
|
|
|
NM_001258392.3(CLPB):c.1666T>A (p.Phe556Ile)
|
rs1949509947
|
|
NM_001258392.3(CLPB):c.1677G>T (p.Lys559Asn)
|
rs2135485638
|
|
NM_001258392.3(CLPB):c.1680+2dup
|
|
|
NM_001258392.3(CLPB):c.1680+6A>C
|
rs1949509457
|
|
NM_001258392.3(CLPB):c.1681-3C>T
|
|
|
NM_001258392.3(CLPB):c.1718G>C (p.Arg573Pro)
|
rs765245566
|
|
NM_001258392.3(CLPB):c.1720G>A (p.Glu574Lys)
|
|
|
NM_001258392.3(CLPB):c.1727C>G (p.Ala576Gly)
|
|
|
NM_001258392.3(CLPB):c.1750A>G (p.Asn584Asp)
|
|
|
NM_001258392.3(CLPB):c.1758C>G (p.His586Gln)
|
rs2135484836
|
|
NM_001258392.3(CLPB):c.1768C>T (p.Arg590Cys)
|
rs2135484821
|
|
NM_001258392.3(CLPB):c.1795C>A (p.Arg599Ser)
|
|
|
NM_001258392.3(CLPB):c.1795C>T (p.Arg599Cys)
|
rs369227883
|
|
NM_001258392.3(CLPB):c.1799T>C (p.Val600Ala)
|
|
|
NM_001258392.3(CLPB):c.17T>A (p.Val6Glu)
|
|
|
NM_001258392.3(CLPB):c.1817C>T (p.Ala606Val)
|
|
|
NM_001258392.3(CLPB):c.1823A>G (p.Tyr608Cys)
|
|
|
NM_001258392.3(CLPB):c.182C>T (p.Ala61Val)
|
rs767517671
|
|
NM_001258392.3(CLPB):c.1832A>T (p.Asp611Val)
|
rs767839493
|
|
NM_001258392.3(CLPB):c.1847G>C (p.Gly616Ala)
|
rs759500860
|
|
NM_001258392.3(CLPB):c.1858C>T (p.Arg620Cys)
|
|
|
NM_001258392.3(CLPB):c.1859G>A (p.Arg620His)
|
rs137882645
|
|
NM_001258392.3(CLPB):c.1859G>T (p.Arg620Leu)
|
rs137882645
|
|
NM_001258392.3(CLPB):c.1861A>G (p.Ile621Val)
|
rs755357754
|
|
NM_001258392.3(CLPB):c.1870G>C (p.Glu624Gln)
|
rs1949489503
|
|
NM_001258392.3(CLPB):c.1909C>T (p.Pro637Ser)
|
|
|
NM_001258392.3(CLPB):c.1910C>G (p.Pro637Arg)
|
|
|
NM_001258392.3(CLPB):c.1920G>C (p.Gln640His)
|
|
|
NM_001258392.3(CLPB):c.1930C>T (p.Arg644Cys)
|
|
|
NM_001258392.3(CLPB):c.1931G>A (p.Arg644His)
|
|
|
NM_001258392.3(CLPB):c.193G>A (p.Gly65Arg)
|
rs368496010
|
|
NM_001258392.3(CLPB):c.193G>C (p.Gly65Arg)
|
|
|
NM_001258392.3(CLPB):c.1940A>G (p.Lys647Arg)
|
|
|
NM_001258392.3(CLPB):c.1945C>T (p.Arg649Cys)
|
|
|
NM_001258392.3(CLPB):c.1959C>G (p.Ile653Met)
|
|
|
NM_001258392.3(CLPB):c.1960G>A (p.Asp654Asn)
|
|
|
NM_001258392.3(CLPB):c.1972A>G (p.Lys658Glu)
|
|
|
NM_001258392.3(CLPB):c.1976C>G (p.Thr659Ser)
|
|
|
NM_001258392.3(CLPB):c.1981A>G (p.Arg661Gly)
|
rs2135483452
|
|
NM_001258392.3(CLPB):c.2009_2010del (p.Pro670fs)
|
|
|
NM_001258392.3(CLPB):c.2021G>A (p.Cys674Tyr)
|
|
|
NM_001258392.3(CLPB):c.2021G>T (p.Cys674Phe)
|
rs372096809
|
|
NM_001258392.3(CLPB):c.2023_*4del (p.Asn675fs)
|
rs1362604874
|
|
NM_001258392.3(CLPB):c.202G>A (p.Ala68Thr)
|
|
|
NM_001258392.3(CLPB):c.2033A>G (p.Ter678Trp)
|
rs1949484806
|
|
NM_001258392.3(CLPB):c.2034del (p.Ter678TyrextTer?)
|
|
|
NM_001258392.3(CLPB):c.203C>A (p.Ala68Glu)
|
rs746191886
|
|
NM_001258392.3(CLPB):c.209C>A (p.Thr70Asn)
|
|
|
NM_001258392.3(CLPB):c.211G>T (p.Gly71Trp)
|
|
|
NM_001258392.3(CLPB):c.212G>A (p.Gly71Glu)
|
|
|
NM_001258392.3(CLPB):c.217C>A (p.Arg73Ser)
|
|
|
NM_001258392.3(CLPB):c.229C>G (p.Arg77Gly)
|
|
|
NM_001258392.3(CLPB):c.230G>C (p.Arg77Pro)
|
|
|
NM_001258392.3(CLPB):c.242A>G (p.Lys81Arg)
|
rs1293473561
|
|
NM_001258392.3(CLPB):c.253G>A (p.Ala85Thr)
|
|
|
NM_001258392.3(CLPB):c.256_261del (p.Ala86_Thr87del)
|
rs1565108155
|
|
NM_001258392.3(CLPB):c.257C>T (p.Ala86Val)
|
rs2135181668
|
|
NM_001258392.3(CLPB):c.260C>T (p.Thr87Ile)
|
rs1424542665
|
|
NM_001258392.3(CLPB):c.271C>T (p.Leu91Phe)
|
|
|
NM_001258392.3(CLPB):c.278G>A (p.Gly93Asp)
|
|
|
NM_001258392.3(CLPB):c.278G>C (p.Gly93Ala)
|
|
|
NM_001258392.3(CLPB):c.325A>G (p.Ser109Gly)
|
rs1856636073
|
|
NM_001258392.3(CLPB):c.328A>G (p.Arg110Gly)
|
|
|
NM_001258392.3(CLPB):c.343A>C (p.Met115Leu)
|
|
|
NM_001258392.3(CLPB):c.343A>G (p.Met115Val)
|
rs755190312
|
|
NM_001258392.3(CLPB):c.34C>G (p.Leu12Val)
|
|
|
NM_001258392.3(CLPB):c.350C>T (p.Ala117Val)
|
rs563749368
|
|
NM_001258392.3(CLPB):c.354_355delinsCT (p.Ala119Ser)
|
|
|
NM_001258392.3(CLPB):c.361G>A (p.Ala121Thr)
|
|
|
NM_001258392.3(CLPB):c.361G>T (p.Ala121Ser)
|
|
|
NM_001258392.3(CLPB):c.373C>G (p.His125Asp)
|
|
|
NM_001258392.3(CLPB):c.380A>G (p.Tyr127Cys)
|
|
|
NM_001258392.3(CLPB):c.384C>A (p.Ser128Arg)
|
rs745934487
|
|
NM_001258392.3(CLPB):c.391C>A (p.Pro131Thr)
|
|
|
NM_001258392.3(CLPB):c.395C>T (p.Ser132Phe)
|
|
|
NM_001258392.3(CLPB):c.403+6T>C
|
rs944669671
|
|
NM_001258392.3(CLPB):c.403G>A (p.Asp135Asn)
|
|
|
NM_001258392.3(CLPB):c.406G>A (p.Ala136Thr)
|
|
|
NM_001258392.3(CLPB):c.413T>C (p.Leu138Pro)
|
rs1384482038
|
|
NM_001258392.3(CLPB):c.419A>C (p.Glu140Ala)
|
|
|
NM_001258392.3(CLPB):c.41C>T (p.Pro14Leu)
|
rs1194145425
|
|
NM_001258392.3(CLPB):c.422C>T (p.Ala141Val)
|
rs1219520636
|
|
NM_001258392.3(CLPB):c.427C>A (p.Arg143Ser)
|
|
|
NM_001258392.3(CLPB):c.428G>A (p.Arg143His)
|
|
|
NM_001258392.3(CLPB):c.451A>G (p.Ser151Gly)
|
|
|
NM_001258392.3(CLPB):c.452G>A (p.Ser151Asn)
|
|
|
NM_001258392.3(CLPB):c.455G>A (p.Arg152Lys)
|
|
|
NM_001258392.3(CLPB):c.491A>C (p.His164Pro)
|
|
|
NM_001258392.3(CLPB):c.491A>G (p.His164Arg)
|
|
|
NM_001258392.3(CLPB):c.497T>G (p.Leu166Arg)
|
rs2135083426
|
|
NM_001258392.3(CLPB):c.506C>T (p.Thr169Ile)
|
|
|
NM_001258392.3(CLPB):c.50T>G (p.Leu17Arg)
|
|
|
NM_001258392.3(CLPB):c.517G>A (p.Val173Met)
|
|
|
NM_001258392.3(CLPB):c.533G>A (p.Arg178Gln)
|
|
|
NM_001258392.3(CLPB):c.538A>G (p.Asn180Asp)
|
|
|
NM_001258392.3(CLPB):c.539A>G (p.Asn180Ser)
|
|
|
NM_001258392.3(CLPB):c.546G>A (p.Val182=)
|
rs1854871823
|
|
NM_001258392.3(CLPB):c.547G>A (p.Val183Ile)
|
|
|
NM_001258392.3(CLPB):c.553G>C (p.Val185Leu)
|
|
|
NM_001258392.3(CLPB):c.56G>A (p.Arg19Gln)
|
rs1856655686
|
|
NM_001258392.3(CLPB):c.578C>T (p.Pro193Leu)
|
rs2135677270
|
|
NM_001258392.3(CLPB):c.599G>A (p.Ser200Asn)
|
|
|
NM_001258392.3(CLPB):c.665A>G (p.Asp222Gly)
|
|
|
NM_001258392.3(CLPB):c.680G>T (p.Arg227Met)
|
rs1284671735
|
|
NM_001258392.3(CLPB):c.689A>T (p.Asn230Ile)
|
|
|
NM_001258392.3(CLPB):c.694G>C (p.Ala232Pro)
|
|
|
NM_001258392.3(CLPB):c.709T>G (p.Cys237Gly)
|
|
|
NM_001258392.3(CLPB):c.715G>A (p.Ala239Thr)
|
rs886041117
|
|
NM_001258392.3(CLPB):c.725A>G (p.Tyr242Cys)
|
rs777313457
|
|
NM_001258392.3(CLPB):c.733C>G (p.Leu245Val)
|
|
|
NM_001258392.3(CLPB):c.748C>T (p.Arg250Cys)
|
rs146762466
|
|
NM_001258392.3(CLPB):c.749G>A (p.Arg250His)
|
|
|
NM_001258392.3(CLPB):c.760_761inv (p.Glu254Ser)
|
|
|
NM_001258392.3(CLPB):c.764T>C (p.Leu255Pro)
|
rs1555098495
|
|
NM_001258392.3(CLPB):c.782A>T (p.Asn261Ile)
|
|
|
NM_001258392.3(CLPB):c.784C>A (p.Pro262Thr)
|
|
|
NM_001258392.3(CLPB):c.79C>T (p.Arg27Trp)
|
|
|
NM_001258392.3(CLPB):c.806G>T (p.Gly269Val)
|
rs1390365704
|
|
NM_001258392.3(CLPB):c.812C>G (p.Thr271Arg)
|
rs757880862
|
|
NM_001258392.3(CLPB):c.839A>C (p.Glu280Ala)
|
|
|
NM_001258392.3(CLPB):c.850C>T (p.Leu284Phe)
|
|
|
NM_001258392.3(CLPB):c.860C>T (p.Thr287Ile)
|
rs1318523407
|
|
NM_001258392.3(CLPB):c.877C>A (p.Gln293Lys)
|
rs1949961706
|
|
NM_001258392.3(CLPB):c.886C>G (p.Gln296Glu)
|
|
|
NM_001258392.3(CLPB):c.88G>A (p.Gly30Arg)
|
|
|
NM_001258392.3(CLPB):c.896G>C (p.Arg299Pro)
|
rs547532550
|
|
NM_001258392.3(CLPB):c.896G>T (p.Arg299Leu)
|
|
|
NM_001258392.3(CLPB):c.905A>G (p.Glu302Gly)
|
rs745539947
|
|
NM_001258392.3(CLPB):c.908A>G (p.Glu303Gly)
|
rs144712077
|
|
NM_001258392.3(CLPB):c.908A>T (p.Glu303Val)
|
rs144712077
|
|
NM_001258392.3(CLPB):c.917G>A (p.Arg306His)
|
|
|
NM_001258392.3(CLPB):c.925C>G (p.Leu309Val)
|
rs941057831
|
|
NM_001258392.3(CLPB):c.937C>G (p.Leu313Val)
|
|
|
NM_001258392.3(CLPB):c.949A>G (p.Ile317Val)
|
rs1590786067
|
|
NM_001258392.3(CLPB):c.95C>T (p.Ala32Val)
|
|
|
NM_001258392.3(CLPB):c.967G>T (p.Ala323Ser)
|
|
|
NM_001258392.3(CLPB):c.971T>A (p.Ile324Asn)
|
|
|
NM_001258392.3(CLPB):c.973G>A (p.Ala325Thr)
|
|
|
NM_001258392.3(CLPB):c.983G>A (p.Gly328Asp)
|
rs1565433670
|
|
NM_001258392.3(CLPB):c.988G>A (p.Ala330Thr)
|
rs2135527446
|
|
NM_001258392.3(CLPB):c.989C>G (p.Ala330Gly)
|
rs144942416
|
|
NM_001258392.3(CLPB):c.992T>C (p.Ile331Thr)
|
rs2135512844
|
|
NM_001258392.3(CLPB):c.995G>A (p.Arg332Gln)
|
|
|
NM_001271.4(CHD2):c.1003C>A (p.Leu335Ile)
|
rs369773756
|
|
NM_001271.4(CHD2):c.1015G>A (p.Glu339Lys)
|
|
|
NM_001271.4(CHD2):c.1039G>A (p.Glu347Lys)
|
|
|
NM_001271.4(CHD2):c.103A>G (p.Ser35Gly)
|
|
|
NM_001271.4(CHD2):c.1042A>G (p.Ile348Val)
|
|
|
NM_001271.4(CHD2):c.1045A>G (p.Lys349Glu)
|
|
|
NM_001271.4(CHD2):c.1052+4T>C
|
|
|
NM_001271.4(CHD2):c.1052+5A>G
|
|
|
NM_001271.4(CHD2):c.1091A>T (p.Asn364Ile)
|
rs143043614
|
|
NM_001271.4(CHD2):c.1135A>G (p.Ile379Val)
|
|
|
NM_001271.4(CHD2):c.1139T>C (p.Val380Ala)
|
rs1596397712
|
|
NM_001271.4(CHD2):c.1168A>G (p.Lys390Glu)
|
rs1060503519
|
|
NM_001271.4(CHD2):c.1177T>A (p.Leu393Met)
|
|
|
NM_001271.4(CHD2):c.1180G>T (p.Gly394Cys)
|
rs771650465
|
|
NM_001271.4(CHD2):c.1208G>A (p.Arg403Gln)
|
|
|
NM_001271.4(CHD2):c.1219C>A (p.Pro407Thr)
|
rs2141795454
|
|
NM_001271.4(CHD2):c.1225A>T (p.Asn409Tyr)
|
|
|
NM_001271.4(CHD2):c.1234G>A (p.Glu412Lys)
|
rs541056569
|
|
NM_001271.4(CHD2):c.1234_1235delinsAC (p.Glu412Thr)
|
rs2053463440
|
|
NM_001271.4(CHD2):c.1238A>G (p.Tyr413Cys)
|
|
|
NM_001271.4(CHD2):c.1244G>A (p.Cys415Tyr)
|
|
|
NM_001271.4(CHD2):c.1254G>A (p.Met418Ile)
|
|
|
NM_001271.4(CHD2):c.1282G>C (p.Glu428Gln)
|
|
|
NM_001271.4(CHD2):c.1291G>C (p.Ala431Pro)
|
|
|
NM_001271.4(CHD2):c.1318T>C (p.Cys440Arg)
|
rs763507530
|
|
NM_001271.4(CHD2):c.1319G>T (p.Cys440Phe)
|
rs2053464128
|
|
NM_001271.4(CHD2):c.1327A>G (p.Ser443Gly)
|
rs2141795625
|
|
NM_001271.4(CHD2):c.1328G>C (p.Ser443Thr)
|
|
|
NM_001271.4(CHD2):c.1334A>G (p.His445Arg)
|
rs750053293
|
|
NM_001271.4(CHD2):c.1357A>G (p.Ile453Val)
|
rs144393676
|
|
NM_001271.4(CHD2):c.1372T>C (p.Cys458Arg)
|
rs1769067223
|
|
NM_001271.4(CHD2):c.1377+4T>C
|
rs2053464708
|
|
NM_001271.4(CHD2):c.1377+6G>A
|
rs2053464769
|
|
NM_001271.4(CHD2):c.140G>A (p.Ser47Asn)
|
|
|
NM_001271.4(CHD2):c.1436G>C (p.Gly479Ala)
|
|
|
NM_001271.4(CHD2):c.1502+4G>A
|
|
|
NM_001271.4(CHD2):c.1508A>C (p.Asn503Thr)
|
|
|
NM_001271.4(CHD2):c.151A>G (p.Ser51Gly)
|
|
|
NM_001271.4(CHD2):c.1535G>C (p.Gly512Ala)
|
rs2053579153
|
|
NM_001271.4(CHD2):c.154G>A (p.Glu52Lys)
|
|
|
NM_001271.4(CHD2):c.1558A>G (p.Ile520Val)
|
rs773793367
|
|
NM_001271.4(CHD2):c.1599T>C (p.Tyr533=)
|
|
|
NM_001271.4(CHD2):c.1603C>T (p.Pro535Ser)
|
|
|
NM_001271.4(CHD2):c.1613T>G (p.Ile538Arg)
|
rs1567139944
|
|
NM_001271.4(CHD2):c.1618G>A (p.Val540Ile)
|
rs1368222485
|
|
NM_001271.4(CHD2):c.1645C>A (p.Gln549Lys)
|
rs1392359380
|
|
NM_001271.4(CHD2):c.1666G>A (p.Ala556Thr)
|
rs2053579900
|
|
NM_001271.4(CHD2):c.1670C>T (p.Pro557Leu)
|
rs1060503520
|
|
NM_001271.4(CHD2):c.1681_1692del (p.Val561_Tyr564del)
|
rs2141811654
|
|
NM_001271.4(CHD2):c.1702C>G (p.Leu568Val)
|
|
|
NM_001271.4(CHD2):c.1720-3T>C
|
rs759231634
|
|
NM_001271.4(CHD2):c.1720A>C (p.Ile574Leu)
|
rs2141814804
|
|
NM_001271.4(CHD2):c.1729T>C (p.Tyr577His)
|
rs2141814817
|
|
NM_001271.4(CHD2):c.1729T>G (p.Tyr577Asp)
|
rs2141814817
|
|
NM_001271.4(CHD2):c.1737G>C (p.Trp579Cys)
|
rs2141814824
|
|
NM_001271.4(CHD2):c.1738A>C (p.Ile580Leu)
|
|
|
NM_001271.4(CHD2):c.1745C>G (p.Ser582Cys)
|
rs2053606798
|
|
NM_001271.4(CHD2):c.1753A>G (p.Lys585Glu)
|
rs2141814847
|
|
NM_001271.4(CHD2):c.1757G>A (p.Arg586Lys)
|
rs2141814855
|
|
NM_001271.4(CHD2):c.1774C>T (p.Leu592Phe)
|
rs2141814881
|
|
NM_001271.4(CHD2):c.1778T>G (p.Ile593Arg)
|
rs2053607137
|
|
NM_001271.4(CHD2):c.1785A>G (p.Thr595=)
|
rs1192477751
|
|
NM_001271.4(CHD2):c.1805A>G (p.Asp602Gly)
|
rs1567140845
|
|
NM_001271.4(CHD2):c.1811C>A (p.Thr604Asn)
|
|
|
NM_001271.4(CHD2):c.1838T>C (p.Phe613Ser)
|
|
|
NM_001271.4(CHD2):c.1874A>G (p.Asp625Gly)
|
rs2141816546
|
|
NM_001271.4(CHD2):c.1916A>G (p.Asn639Ser)
|
|
|
NM_001271.4(CHD2):c.1937G>A (p.Gly646Glu)
|
rs1567141162
|
|
NM_001271.4(CHD2):c.1943C>G (p.Pro648Arg)
|
|
|
NM_001271.4(CHD2):c.194A>C (p.Glu65Ala)
|
rs2053018824
|
|
NM_001271.4(CHD2):c.1955C>A (p.Ser652Tyr)
|
|
|
NM_001271.4(CHD2):c.1961A>G (p.Lys654Arg)
|
|
|
NM_001271.4(CHD2):c.1978C>A (p.Leu660Met)
|
rs2141816626
|
|
NM_001271.4(CHD2):c.1993C>T (p.Pro665Ser)
|
rs768407397
|
|
NM_001271.4(CHD2):c.2000+4A>G
|
|
|
NM_001271.4(CHD2):c.2001-4del
|
|
|
NM_001271.4(CHD2):c.2001G>A (p.Lys667=)
|
rs2053779282
|
|
NM_001271.4(CHD2):c.2005G>C (p.Glu669Gln)
|
|
|
NM_001271.4(CHD2):c.2010T>G (p.Phe670Leu)
|
rs1165969857
|
|
NM_001271.4(CHD2):c.2035G>A (p.Gly679Arg)
|
rs867188529
|
|
NM_001271.4(CHD2):c.2045G>T (p.Arg682Ile)
|
|
|
NM_001271.4(CHD2):c.204C>G (p.Ser68Arg)
|
rs150919373
|
|
NM_001271.4(CHD2):c.2062A>C (p.Ser688Arg)
|
|
|
NM_001271.4(CHD2):c.2076G>A (p.Val692=)
|
|
|
NM_001271.4(CHD2):c.207A>T (p.Glu69Asp)
|
|
|
NM_001271.4(CHD2):c.2092C>T (p.Leu698Phe)
|
rs2053779861
|
|
NM_001271.4(CHD2):c.20A>G (p.Lys7Arg)
|
rs2052524601
|
|
NM_001271.4(CHD2):c.2125C>T (p.Leu709Phe)
|
rs2141830674
|
|
NM_001271.4(CHD2):c.214G>T (p.Gly72Cys)
|
|
|
NM_001271.4(CHD2):c.2175G>C (p.Gln725His)
|
|
|
NM_001271.4(CHD2):c.2180A>G (p.Gln727Arg)
|
rs2141830697
|
|
NM_001271.4(CHD2):c.2189+8C>T
|
rs1486555733
|
|
NM_001271.4(CHD2):c.2214G>C (p.Lys738Asn)
|
|
|
NM_001271.4(CHD2):c.2257A>G (p.Asn753Asp)
|
rs2141835724
|
|
NM_001271.4(CHD2):c.2279A>C (p.Lys760Thr)
|
rs2141835731
|
|
NM_001271.4(CHD2):c.2292C>A (p.His764Gln)
|
rs2141835739
|
|
NM_001271.4(CHD2):c.229C>G (p.Pro77Ala)
|
rs1228076921
|
|
NM_001271.4(CHD2):c.230C>T (p.Pro77Leu)
|
|
|
NM_001271.4(CHD2):c.2339A>C (p.Gln780Pro)
|
rs2053846412
|
|
NM_001271.4(CHD2):c.2345T>G (p.Ile782Ser)
|
|
|
NM_001271.4(CHD2):c.2353-16T>C
|
|
|
NM_001271.4(CHD2):c.2353-3C>T
|
rs558236184
|
|
NM_001271.4(CHD2):c.235C>G (p.Leu79Val)
|
rs1555437429
|
|
NM_001271.4(CHD2):c.2363G>A (p.Arg788Lys)
|
rs2141836184
|
|
NM_001271.4(CHD2):c.236T>C (p.Leu79Pro)
|
|
|
NM_001271.4(CHD2):c.2375A>G (p.Lys792Arg)
|
|
|
NM_001271.4(CHD2):c.2377T>G (p.Leu793Val)
|
|
|
NM_001271.4(CHD2):c.239C>A (p.Pro80Gln)
|
|
|
NM_001271.4(CHD2):c.2402C>A (p.Thr801Lys)
|
rs372801085
|
|
NM_001271.4(CHD2):c.2402C>G (p.Thr801Arg)
|
rs372801085
|
|
NM_001271.4(CHD2):c.2411G>A (p.Arg804Gln)
|
|
|
NM_001271.4(CHD2):c.2426G>T (p.Arg809Leu)
|
|
|
NM_001271.4(CHD2):c.2434A>G (p.Ile812Val)
|
rs2141836222
|
|
NM_001271.4(CHD2):c.2438T>G (p.Phe813Cys)
|
rs2053851669
|
|
NM_001271.4(CHD2):c.2464A>G (p.Ile822Val)
|
|
|
NM_001271.4(CHD2):c.247A>C (p.Lys83Gln)
|
|
|
NM_001271.4(CHD2):c.2497C>T (p.Pro833Ser)
|
rs2053851835
|
|
NM_001271.4(CHD2):c.2510T>C (p.Leu837Pro)
|
rs2141839131
|
|
NM_001271.4(CHD2):c.2555A>G (p.His852Arg)
|
rs2053887900
|
|
NM_001271.4(CHD2):c.2561A>G (p.Asn854Ser)
|
|
|
NM_001271.4(CHD2):c.2567A>G (p.Asp856Gly)
|
rs864309541
|
|
NM_001271.4(CHD2):c.2583C>G (p.Phe861Leu)
|
rs2141843170
|
|
NM_001271.4(CHD2):c.2595C>T (p.Leu865=)
|
|
|
NM_001271.4(CHD2):c.2597C>T (p.Ser866Leu)
|
rs1085308000
|
|
NM_001271.4(CHD2):c.2598G>T (p.Ser866=)
|
|
|
NM_001271.4(CHD2):c.2617G>A (p.Gly873Arg)
|
|
|
NM_001271.4(CHD2):c.2667G>C (p.Trp889Cys)
|
rs2141843220
|
|
NM_001271.4(CHD2):c.2671C>T (p.Pro891Ser)
|
|
|
NM_001271.4(CHD2):c.2689G>A (p.Ala897Thr)
|
|
|
NM_001271.4(CHD2):c.2701G>A (p.Ala901Thr)
|
rs1596427988
|
|
NM_001271.4(CHD2):c.2702C>T (p.Ala901Val)
|
rs2141843246
|
|
NM_001271.4(CHD2):c.2705A>G (p.His902Arg)
|
rs2053935622
|
|
NM_001271.4(CHD2):c.2708G>T (p.Arg903Ile)
|
rs2141843253
|
|
NM_001271.4(CHD2):c.2716C>G (p.Gln906Glu)
|
|
|
NM_001271.4(CHD2):c.2727+5G>T
|
|
|
NM_001271.4(CHD2):c.2749A>G (p.Thr917Ala)
|
rs766507274
|
|
NM_001271.4(CHD2):c.274C>T (p.Arg92Trp)
|
|
|
NM_001271.4(CHD2):c.2793G>T (p.Lys931Asn)
|
|
|
NM_001271.4(CHD2):c.2810A>C (p.His937Pro)
|
rs2053946385
|
|
NM_001271.4(CHD2):c.2825G>C (p.Arg942Pro)
|
rs2141844247
|
|
NM_001271.4(CHD2):c.2827A>G (p.Met943Val)
|
|
|
NM_001271.4(CHD2):c.2856A>T (p.Glu952Asp)
|
rs1388780876
|
|
NM_001271.4(CHD2):c.2858A>G (p.Asn953Ser)
|
rs2141844278
|
|
NM_001271.4(CHD2):c.2869A>G (p.Arg957Gly)
|
|
|
NM_001271.4(CHD2):c.2871_2876+15dup
|
|
|
NM_001271.4(CHD2):c.2877C>T (p.Asn959=)
|
|
|
NM_001271.4(CHD2):c.2884C>A (p.Pro962Thr)
|
|
|
NM_001271.4(CHD2):c.2892T>G (p.Asn964Lys)
|
|
|
NM_001271.4(CHD2):c.2894A>T (p.Lys965Ile)
|
rs2141846369
|
|
NM_001271.4(CHD2):c.2906C>T (p.Thr969Ile)
|
rs2053970198
|
|
NM_001271.4(CHD2):c.2945A>G (p.Glu982Gly)
|
|
|
NM_001271.4(CHD2):c.2968C>T (p.Pro990Ser)
|
|
|
NM_001271.4(CHD2):c.2973G>A (p.Gln991=)
|
rs903186613
|
|
NM_001271.4(CHD2):c.2974-3T>C
|
rs778558788
|
|
NM_001271.4(CHD2):c.2977A>G (p.Met993Val)
|
rs2053978485
|
|
NM_001271.4(CHD2):c.3025G>T (p.Val1009Leu)
|
rs1064794528
|
|
NM_001271.4(CHD2):c.3031A>G (p.Thr1011Ala)
|
rs2053978897
|
|
NM_001271.4(CHD2):c.3096A>C (p.Glu1032Asp)
|
|
|
NM_001271.4(CHD2):c.3096AGA[1] (p.Glu1034del)
|
rs1439253837
|
|
NM_001271.4(CHD2):c.30GGA[1] (p.Glu11del)
|
|
|
NM_001271.4(CHD2):c.3112C>T (p.Arg1038Cys)
|
|
|
NM_001271.4(CHD2):c.3113G>A (p.Arg1038His)
|
|
|
NM_001271.4(CHD2):c.3150A>C (p.Glu1050Asp)
|
rs1261637857
|
|
NM_001271.4(CHD2):c.3151C>A (p.Gln1051Lys)
|
|
|
NM_001271.4(CHD2):c.3158A>T (p.Lys1053Ile)
|
|
|
NM_001271.4(CHD2):c.3237+5T>G
|
rs1015228436
|
|
NM_001271.4(CHD2):c.3238-5C>G
|
rs1555443468
|
|
NM_001271.4(CHD2):c.3247A>G (p.Asn1083Asp)
|
|
|
NM_001271.4(CHD2):c.3264C>A (p.Asp1088Glu)
|
|
|
NM_001271.4(CHD2):c.3275A>G (p.Lys1092Arg)
|
|
|
NM_001271.4(CHD2):c.3278G>A (p.Arg1093Lys)
|
rs2054031377
|
|
NM_001271.4(CHD2):c.3284C>G (p.Ala1095Gly)
|
rs2054031451
|
|
NM_001271.4(CHD2):c.3338A>G (p.Lys1113Arg)
|
|
|
NM_001271.4(CHD2):c.3366T>A (p.Ser1122Arg)
|
|
|
NM_001271.4(CHD2):c.3370C>T (p.Arg1124Trp)
|
rs1454060267
|
|
NM_001271.4(CHD2):c.3378C>A (p.Asp1126Glu)
|
|
|
NM_001271.4(CHD2):c.3382G>A (p.Val1128Met)
|
rs776091604
|
|
NM_001271.4(CHD2):c.338A>G (p.Asn113Ser)
|
|
|
NM_001271.4(CHD2):c.3392T>A (p.Phe1131Tyr)
|
rs2141852043
|
|
NM_001271.4(CHD2):c.3401C>G (p.Ala1134Gly)
|
|
|
NM_001271.4(CHD2):c.341G>T (p.Arg114Leu)
|
|
|
NM_001271.4(CHD2):c.3422A>G (p.Lys1141Arg)
|
rs1471418780
|
|
NM_001271.4(CHD2):c.3423G>A (p.Lys1141=)
|
rs2054119126
|
|
NM_001271.4(CHD2):c.3455+4_3455+5del
|
rs2054119330
|
|
NM_001271.4(CHD2):c.3456-3C>T
|
|
|
NM_001271.4(CHD2):c.3472C>T (p.Arg1158Cys)
|
|
|
NM_001271.4(CHD2):c.3473G>A (p.Arg1158His)
|
rs2054139096
|
|
NM_001271.4(CHD2):c.3476A>T (p.Asp1159Val)
|
rs2141861610
|
|
NM_001271.4(CHD2):c.3484C>G (p.Leu1162Val)
|
rs2141861616
|
|
NM_001271.4(CHD2):c.3487G>C (p.Val1163Leu)
|
rs1555444210
|
|
NM_001271.4(CHD2):c.3497C>T (p.Ser1166Leu)
|
rs1064794438
|
|
NM_001271.4(CHD2):c.3515G>A (p.Arg1172His)
|
rs2054139326
|
|
NM_001271.4(CHD2):c.3526C>A (p.Leu1176Met)
|
rs1555444216
|
|
NM_001271.4(CHD2):c.3542G>A (p.Cys1181Tyr)
|
rs2141861661
|
|
NM_001271.4(CHD2):c.3565G>A (p.Glu1189Lys)
|
|
|
NM_001271.4(CHD2):c.3584A>G (p.Asn1195Ser)
|
|
|
NM_001271.4(CHD2):c.3587C>G (p.Ala1196Gly)
|
|
|
NM_001271.4(CHD2):c.3589A>G (p.Ser1197Gly)
|
|
|
NM_001271.4(CHD2):c.3592G>C (p.Glu1198Gln)
|
rs757981280
|
|
NM_001271.4(CHD2):c.3595+6C>T
|
|
|
NM_001271.4(CHD2):c.359C>T (p.Ser120Leu)
|
|
|
NM_001271.4(CHD2):c.3602G>A (p.Gly1201Glu)
|
rs2054196855
|
|
NM_001271.4(CHD2):c.3628A>G (p.Ile1210Val)
|
|
|
NM_001271.4(CHD2):c.3629T>G (p.Ile1210Ser)
|
rs2141867277
|
|
NM_001271.4(CHD2):c.362G>T (p.Arg121Leu)
|
rs1064795319
|
|
NM_001271.4(CHD2):c.3640G>A (p.Gly1214Arg)
|
rs1596446980
|
|
NM_001271.4(CHD2):c.3646C>A (p.Gln1216Lys)
|
|
|
NM_001271.4(CHD2):c.3646C>G (p.Gln1216Glu)
|
|
|
NM_001271.4(CHD2):c.3662C>T (p.Ser1221Phe)
|
rs2054197204
|
|
NM_001271.4(CHD2):c.366T>G (p.Phe122Leu)
|
|
|
NM_001271.4(CHD2):c.3677A>C (p.Glu1226Ala)
|
|
|
NM_001271.4(CHD2):c.3679G>A (p.Glu1227Lys)
|
rs150583797
|
|
NM_001271.4(CHD2):c.3691A>G (p.Met1231Val)
|
rs1408881628
|
|
NM_001271.4(CHD2):c.3697C>T (p.His1233Tyr)
|
rs2054197453
|
|
NM_001271.4(CHD2):c.3702A>C (p.Lys1234Asn)
|
|
|
NM_001271.4(CHD2):c.370A>G (p.Ile124Val)
|
|
|
NM_001271.4(CHD2):c.371T>C (p.Ile124Thr)
|
|
|
NM_001271.4(CHD2):c.3727A>G (p.Lys1243Glu)
|
|
|
NM_001271.4(CHD2):c.3733A>C (p.Lys1245Gln)
|
rs2054197954
|
|
NM_001271.4(CHD2):c.3734+3G>T
|
|
|
NM_001271.4(CHD2):c.3735-6C>G
|
rs1235843668
|
|
NM_001271.4(CHD2):c.3746C>T (p.Thr1249Ile)
|
|
|
NM_001271.4(CHD2):c.374A>C (p.Lys125Thr)
|
|
|
NM_001271.4(CHD2):c.3751C>T (p.Arg1251Cys)
|
rs2054200484
|
|
NM_001271.4(CHD2):c.3752G>A (p.Arg1251His)
|
|
|
NM_001271.4(CHD2):c.3782G>T (p.Trp1261Leu)
|
rs1555444603
|
|
NM_001271.4(CHD2):c.3802C>T (p.Arg1268Cys)
|
rs2054200789
|
|
NM_001271.4(CHD2):c.3805C>G (p.Leu1269Val)
|
rs1308763946
|
|
NM_001271.4(CHD2):c.3817A>G (p.Ile1273Val)
|
|
|
NM_001271.4(CHD2):c.382-6C>A
|
rs756487303
|
|
NM_001271.4(CHD2):c.3821A>T (p.Tyr1274Phe)
|
|
|
NM_001271.4(CHD2):c.3829G>A (p.Gly1277Ser)
|
rs1596447174
|
|
NM_001271.4(CHD2):c.3833A>G (p.Tyr1278Cys)
|
rs1596447179
|
|
NM_001271.4(CHD2):c.3857C>T (p.Thr1286Ile)
|
|
|
NM_001271.4(CHD2):c.3862C>T (p.Pro1288Ser)
|
rs2054201108
|
|
NM_001271.4(CHD2):c.3865G>C (p.Glu1289Gln)
|
|
|
NM_001271.4(CHD2):c.3867G>C (p.Glu1289Asp)
|
rs1358081390
|
|
NM_001271.4(CHD2):c.3876A>T (p.Leu1292Phe)
|
|
|
NM_001271.4(CHD2):c.3885+4A>G
|
rs1555444612
|
|
NM_001271.4(CHD2):c.3886-18C>T
|
|
|
NM_001271.4(CHD2):c.3902C>T (p.Thr1301Ile)
|
|
|
NM_001271.4(CHD2):c.3906T>A (p.Asp1302Glu)
|
rs2141868872
|
|
NM_001271.4(CHD2):c.3913C>G (p.Pro1305Ala)
|
|
|
NM_001271.4(CHD2):c.3920G>A (p.Gly1307Glu)
|
rs2054212404
|
|
NM_001271.4(CHD2):c.3927G>T (p.Gln1309His)
|
rs938005096
|
|
NM_001271.4(CHD2):c.392G>A (p.Gly131Glu)
|
|
|
NM_001271.4(CHD2):c.3938G>T (p.Arg1313Leu)
|
|
|
NM_001271.4(CHD2):c.3941C>T (p.Ala1314Val)
|
|
|
NM_001271.4(CHD2):c.3950T>C (p.Leu1317Ser)
|
rs2141868900
|
|
NM_001271.4(CHD2):c.3957G>T (p.Lys1319Asn)
|
rs2141868905
|
|
NM_001271.4(CHD2):c.3964A>G (p.Arg1322Gly)
|
rs1555444712
|
|
NM_001271.4(CHD2):c.3979AAG[1] (p.Lys1328del)
|
rs1410645881
|
|
NM_001271.4(CHD2):c.3981G>T (p.Lys1327Asn)
|
|
|
NM_001271.4(CHD2):c.3997G>A (p.Gly1333Ser)
|
|
|
NM_001271.4(CHD2):c.4008+5G>A
|
rs2141868973
|
|
NM_001271.4(CHD2):c.4009-3C>T
|
|
|
NM_001271.4(CHD2):c.4009G>A (p.Ala1337Thr)
|
rs776072657
|
|
NM_001271.4(CHD2):c.4024C>T (p.Arg1342Trp)
|
|
|
NM_001271.4(CHD2):c.4025G>T (p.Arg1342Leu)
|
rs143503275
|
|
NM_001271.4(CHD2):c.4025_4026delinsTA (p.Arg1342Leu)
|
rs2141871683
|
|
NM_001271.4(CHD2):c.4033C>T (p.Arg1345Trp)
|
rs1273391509
|
|
NM_001271.4(CHD2):c.4051A>G (p.Lys1351Glu)
|
|
|
NM_001271.4(CHD2):c.4070A>G (p.Glu1357Gly)
|
rs2141871721
|
|
NM_001271.4(CHD2):c.4073A>C (p.Glu1358Ala)
|
rs2141871726
|
|
NM_001271.4(CHD2):c.4074G>T (p.Glu1358Asp)
|
|
|
NM_001271.4(CHD2):c.4079G>A (p.Gly1360Glu)
|
rs1567159136
|
|
NM_001271.4(CHD2):c.4084G>C (p.Glu1362Gln)
|
|
|
NM_001271.4(CHD2):c.4096C>T (p.Pro1366Ser)
|
|
|
NM_001271.4(CHD2):c.4097C>G (p.Pro1366Arg)
|
|
|
NM_001271.4(CHD2):c.40T>G (p.Ser14Ala)
|
rs2052525047
|
|
NM_001271.4(CHD2):c.4108G>A (p.Asp1370Asn)
|
rs2054242398
|
|
NM_001271.4(CHD2):c.4111A>G (p.Asn1371Asp)
|
rs745311012
|
|
NM_001271.4(CHD2):c.4120G>A (p.Glu1374Lys)
|
|
|
NM_001271.4(CHD2):c.4133T>G (p.Val1378Gly)
|
rs2054242633
|
|
NM_001271.4(CHD2):c.4137+11G>C
|
|
|
NM_001271.4(CHD2):c.4142A>G (p.Asp1381Gly)
|
rs760717598
|
|
NM_001271.4(CHD2):c.4145G>T (p.Gly1382Val)
|
|
|
NM_001271.4(CHD2):c.4162A>G (p.Met1388Val)
|
|
|
NM_001271.4(CHD2):c.4165A>G (p.Lys1389Glu)
|
|
|
NM_001271.4(CHD2):c.4173del (p.Lys1391fs)
|
rs749969667
|
|
NM_001271.4(CHD2):c.4176GAA[2] (p.Lys1395del)
|
|
|
NM_001271.4(CHD2):c.4189A>T (p.Asn1397Tyr)
|
|
|
NM_001271.4(CHD2):c.4207A>C (p.Lys1403Gln)
|
|
|
NM_001271.4(CHD2):c.4212A>T (p.Gln1404His)
|
|
|
NM_001271.4(CHD2):c.4217G>T (p.Ser1406Ile)
|
rs2054266595
|
|
NM_001271.4(CHD2):c.4219_4220delinsAT (p.Ser1407Ile)
|
rs1567159959
|
|
NM_001271.4(CHD2):c.4220C>A (p.Ser1407Tyr)
|
rs780455269
|
|
NM_001271.4(CHD2):c.4228G>A (p.Asp1410Asn)
|
rs775901148
|
|
NM_001271.4(CHD2):c.4235A>G (p.Glu1412Gly)
|
rs1064795470
|
|
NM_001271.4(CHD2):c.4236A>C (p.Glu1412Asp)
|
rs747843766
|
|
NM_001271.4(CHD2):c.4238G>A (p.Gly1413Glu)
|
|
|
NM_001271.4(CHD2):c.4258T>G (p.Ser1420Ala)
|
rs773012231
|
|
NM_001271.4(CHD2):c.4259C>T (p.Ser1420Leu)
|
|
|
NM_001271.4(CHD2):c.4261A>G (p.Lys1421Glu)
|
|
|
NM_001271.4(CHD2):c.4278+5T>A
|
rs202174434
|
|
NM_001271.4(CHD2):c.4279C>G (p.Pro1427Ala)
|
|
|
NM_001271.4(CHD2):c.4288G>C (p.Gly1430Arg)
|
rs2054297469
|
|
NM_001271.4(CHD2):c.4289G>A (p.Gly1430Asp)
|
|
|
NM_001271.4(CHD2):c.4289G>T (p.Gly1430Val)
|
|
|
NM_001271.4(CHD2):c.428G>A (p.Arg143Lys)
|
rs2053117542
|
|
NM_001271.4(CHD2):c.4297A>G (p.Lys1433Glu)
|
rs1567160905
|
|
NM_001271.4(CHD2):c.4304C>T (p.Ser1435Leu)
|
|
|
NM_001271.4(CHD2):c.4306A>G (p.Ser1436Gly)
|
rs889423529
|
|
NM_001271.4(CHD2):c.4310A>C (p.Lys1437Thr)
|
rs1308086750
|
|
NM_001271.4(CHD2):c.4319G>A (p.Arg1440Gln)
|
|
|
NM_001271.4(CHD2):c.4319G>C (p.Arg1440Pro)
|
|
|
NM_001271.4(CHD2):c.4343C>T (p.Thr1448Ile)
|
rs2141876540
|
|
NM_001271.4(CHD2):c.4413+3A>G
|
rs2054298217
|
|
NM_001271.4(CHD2):c.4443G>C (p.Lys1481Asn)
|
|
|
NM_001271.4(CHD2):c.4450A>G (p.Lys1484Glu)
|
|
|
NM_001271.4(CHD2):c.446A>G (p.Glu149Gly)
|
|
|
NM_001271.4(CHD2):c.4489G>A (p.Glu1497Lys)
|
|
|
NM_001271.4(CHD2):c.44T>C (p.Leu15Pro)
|
rs1060503522
|
|
NM_001271.4(CHD2):c.44T>G (p.Leu15Arg)
|
|
|
NM_001271.4(CHD2):c.4500A>T (p.Glu1500Asp)
|
rs776113114
|
|
NM_001271.4(CHD2):c.4507C>T (p.Arg1503Trp)
|
rs764680752
|
|
NM_001271.4(CHD2):c.4511A>G (p.Asn1504Ser)
|
rs2141881607
|
|
NM_001271.4(CHD2):c.4513T>C (p.Cys1505Arg)
|
|
|
NM_001271.4(CHD2):c.4546T>A (p.Cys1516Ser)
|
|
|
NM_001271.4(CHD2):c.4555G>A (p.Ala1519Thr)
|
rs1183987736
|
|
NM_001271.4(CHD2):c.4567C>G (p.Gln1523Glu)
|
rs372786805
|
|
NM_001271.4(CHD2):c.4573C>G (p.His1525Asp)
|
rs2141881675
|
|
NM_001271.4(CHD2):c.4574A>G (p.His1525Arg)
|
rs2141881676
|
|
NM_001271.4(CHD2):c.457C>G (p.Gln153Glu)
|
rs755510106
|
|
NM_001271.4(CHD2):c.4592+3A>G
|
|
|
NM_001271.4(CHD2):c.4592+4A>G
|
rs1450865656
|
|
NM_001271.4(CHD2):c.4592+5C>T
|
|
|
NM_001271.4(CHD2):c.4598T>G (p.Leu1533Arg)
|
rs2054404153
|
|
NM_001271.4(CHD2):c.4612T>G (p.Ser1538Ala)
|
rs2141885429
|
|
NM_001271.4(CHD2):c.4622C>G (p.Thr1541Arg)
|
rs2141885433
|
|
NM_001271.4(CHD2):c.4622C>T (p.Thr1541Ile)
|
rs2141885433
|
|
NM_001271.4(CHD2):c.4637G>A (p.Arg1546Gln)
|
rs1430565994
|
|
NM_001271.4(CHD2):c.463C>A (p.Pro155Thr)
|
|
|
NM_001271.4(CHD2):c.4646A>G (p.His1549Arg)
|
rs1428758251
|
|
NM_001271.4(CHD2):c.4663G>A (p.Ala1555Thr)
|
rs2054404552
|
|
NM_001271.4(CHD2):c.4666C>T (p.His1556Tyr)
|
|
|
NM_001271.4(CHD2):c.4667A>G (p.His1556Arg)
|
|
|
NM_001271.4(CHD2):c.4724G>T (p.Gly1575Val)
|
|
|
NM_001271.4(CHD2):c.4745A>G (p.Glu1582Gly)
|
|
|
NM_001271.4(CHD2):c.4746G>C (p.Glu1582Asp)
|
rs2141888193
|
|
NM_001271.4(CHD2):c.4748C>T (p.Ala1583Val)
|
|
|
NM_001271.4(CHD2):c.4763G>A (p.Arg1588Gln)
|
|
|
NM_001271.4(CHD2):c.4784C>T (p.Ser1595Phe)
|
|
|
NM_001271.4(CHD2):c.4787A>G (p.His1596Arg)
|
|
|
NM_001271.4(CHD2):c.4789A>G (p.Thr1597Ala)
|
rs1596458216
|
|
NM_001271.4(CHD2):c.4799A>G (p.Asn1600Ser)
|
|
|
NM_001271.4(CHD2):c.479A>G (p.Gln160Arg)
|
|
|
NM_001271.4(CHD2):c.481G>A (p.Glu161Lys)
|
rs1555438837
|
|
NM_001271.4(CHD2):c.4845G>C (p.Gln1615His)
|
rs1427359303
|
|
NM_001271.4(CHD2):c.4857C>A (p.His1619Gln)
|
|
|
NM_001271.4(CHD2):c.4859C>G (p.Pro1620Arg)
|
|
|
NM_001271.4(CHD2):c.4873A>G (p.Asn1625Asp)
|
|
|
NM_001271.4(CHD2):c.4876C>T (p.His1626Tyr)
|
|
|
NM_001271.4(CHD2):c.488G>A (p.Gly163Asp)
|
|
|
NM_001271.4(CHD2):c.4892A>C (p.His1631Pro)
|
rs2054438338
|
|
NM_001271.4(CHD2):c.4897del (p.Ser1633fs)
|
rs2054438416
|
|
NM_001271.4(CHD2):c.4898G>A (p.Ser1633Asn)
|
rs2054438446
|
|
NM_001271.4(CHD2):c.4900_4906delinsT (p.Asn1634_Asp1636delinsTyr)
|
rs1555445701
|
|
NM_001271.4(CHD2):c.4901A>T (p.Asn1634Ile)
|
rs761860129
|
|
NM_001271.4(CHD2):c.4905A>G (p.Ala1635=)
|
rs2054438546
|
|
NM_001271.4(CHD2):c.4907A>G (p.Asp1636Gly)
|
|
|
NM_001271.4(CHD2):c.4909C>G (p.Arg1637Gly)
|
|
|
NM_001271.4(CHD2):c.4917C>A (p.Asp1639Glu)
|
rs575697793
|
|
NM_001271.4(CHD2):c.4917C>G (p.Asp1639Glu)
|
|
|
NM_001271.4(CHD2):c.491C>G (p.Thr164Ser)
|
|
|
NM_001271.4(CHD2):c.4932A>T (p.Arg1644Ser)
|
rs1567166830
|
|
NM_001271.4(CHD2):c.4934A>G (p.Lys1645Arg)
|
rs751850387
|
|
NM_001271.4(CHD2):c.4940A>G (p.Asn1647Ser)
|
|
|
NM_001271.4(CHD2):c.4944TGG[2] (p.Gly1651del)
|
rs988975454
|
|
NM_001271.4(CHD2):c.4955A>G (p.Asn1652Ser)
|
|
|
NM_001271.4(CHD2):c.4956C>G (p.Asn1652Lys)
|
rs200979907
|
|
NM_001271.4(CHD2):c.4960A>T (p.Asn1654Tyr)
|
rs1437890850
|
|
NM_001271.4(CHD2):c.4963C>A (p.Pro1655Thr)
|
rs2054514484
|
|
NM_001271.4(CHD2):c.4964C>T (p.Pro1655Leu)
|
|
|
NM_001271.4(CHD2):c.4966C>T (p.Pro1656Ser)
|
|
|
NM_001271.4(CHD2):c.4973G>A (p.Gly1658Glu)
|
|
|
NM_001271.4(CHD2):c.4987C>T (p.His1663Tyr)
|
rs746965265
|
|
NM_001271.4(CHD2):c.5002C>T (p.His1668Tyr)
|
rs142534503
|
|
NM_001271.4(CHD2):c.5017C>A (p.His1673Asn)
|
rs190569275
|
|
NM_001271.4(CHD2):c.5026G>A (p.Gly1676Arg)
|
rs2141895266
|
|
NM_001271.4(CHD2):c.503G>C (p.Ser168Thr)
|
|
|
NM_001271.4(CHD2):c.5041_5042dup (p.Met1681fs)
|
|
|
NM_001271.4(CHD2):c.5048C>T (p.Ala1683Val)
|
|
|
NM_001271.4(CHD2):c.5050C>G (p.His1684Asp)
|
|
|
NM_001271.4(CHD2):c.5051A>C (p.His1684Pro)
|
rs770784804
|
|
NM_001271.4(CHD2):c.5053C>T (p.Arg1685Cys)
|
|
|
NM_001271.4(CHD2):c.5057C>G (p.Ser1686Cys)
|
|
|
NM_001271.4(CHD2):c.5066A>G (p.Tyr1689Cys)
|
rs773408940
|
|
NM_001271.4(CHD2):c.5071C>T (p.Pro1691Ser)
|
rs754463281
|
|
NM_001271.4(CHD2):c.5072C>T (p.Pro1691Leu)
|
rs1227123179
|
|
NM_001271.4(CHD2):c.5075ACA[1] (p.Asn1693del)
|
rs762235508
|
|
NM_001271.4(CHD2):c.5110A>T (p.Ser1704Cys)
|
|
|
NM_001271.4(CHD2):c.5111G>A (p.Ser1704Asn)
|
rs2054516537
|
|
NM_001271.4(CHD2):c.5119C>G (p.Arg1707Gly)
|
|
|
NM_001271.4(CHD2):c.5126A>T (p.His1709Leu)
|
rs1172858416
|
|
NM_001271.4(CHD2):c.5135A>T (p.His1712Leu)
|
|
|
NM_001271.4(CHD2):c.5136_5137del (p.His1712fs)
|
rs2054516766
|
|
NM_001271.4(CHD2):c.5148T>G (p.Tyr1716Ter)
|
rs773497328
|
|
NM_001271.4(CHD2):c.5154G>A (p.Arg1718=)
|
rs768370702
|
|
NM_001271.4(CHD2):c.5155C>T (p.His1719Tyr)
|
|
|
NM_001271.4(CHD2):c.5185G>A (p.Asp1729Asn)
|
|
|
NM_001271.4(CHD2):c.5202A>C (p.Gln1734His)
|
rs1009699195
|
|
NM_001271.4(CHD2):c.5227C>T (p.Arg1743Ter)
|
rs1596463906
|
|
NM_001271.4(CHD2):c.522A>C (p.Lys174Asn)
|
|
|
NM_001271.4(CHD2):c.522A>G (p.Lys174=)
|
rs573405690
|
|
NM_001271.4(CHD2):c.522A>T (p.Lys174Asn)
|
rs573405690
|
|
NM_001271.4(CHD2):c.5233T>C (p.Ser1745Pro)
|
|
|
NM_001271.4(CHD2):c.5233_5236del (p.Ser1745fs)
|
rs2054569319
|
|
NM_001271.4(CHD2):c.5234C>G (p.Ser1745Cys)
|
rs2141761439
|
|
NM_001271.4(CHD2):c.5240A>C (p.His1747Pro)
|
|
|
NM_001271.4(CHD2):c.5241C>G (p.His1747Gln)
|
|
|
NM_001271.4(CHD2):c.5243G>A (p.Arg1748His)
|
|
|
NM_001271.4(CHD2):c.5245C>A (p.Pro1749Thr)
|
|
|
NM_001271.4(CHD2):c.5248G>A (p.Ala1750Thr)
|
rs753595749
|
|
NM_001271.4(CHD2):c.5249C>T (p.Ala1750Val)
|
|
|
NM_001271.4(CHD2):c.5251A>G (p.Met1751Val)
|
|
|
NM_001271.4(CHD2):c.5260C>T (p.His1754Tyr)
|
rs1162600592
|
|
NM_001271.4(CHD2):c.5288G>A (p.Arg1763His)
|
|
|
NM_001271.4(CHD2):c.5288G>T (p.Arg1763Leu)
|
|
|
NM_001271.4(CHD2):c.5291C>T (p.Ser1764Phe)
|
|
|
NM_001271.4(CHD2):c.5294del (p.Phe1765fs)
|
|
|
NM_001271.4(CHD2):c.5297A>G (p.His1766Arg)
|
|
|
NM_001271.4(CHD2):c.5304T>A (p.Asp1768Glu)
|
rs1006801815
|
|
NM_001271.4(CHD2):c.5306A>T (p.Lys1769Ile)
|
|
|
NM_001271.4(CHD2):c.5324A>C (p.Gln1775Pro)
|
|
|
NM_001271.4(CHD2):c.5325G>T (p.Gln1775His)
|
|
|
NM_001271.4(CHD2):c.5326C>G (p.Pro1776Ala)
|
rs371006816
|
|
NM_001271.4(CHD2):c.5329C>G (p.Leu1777Val)
|
|
|
NM_001271.4(CHD2):c.532A>G (p.Arg178Gly)
|
rs1596390679
|
|
NM_001271.4(CHD2):c.5332C>T (p.Pro1778Ser)
|
|
|
NM_001271.4(CHD2):c.5333C>G (p.Pro1778Arg)
|
|
|
NM_001271.4(CHD2):c.5335C>T (p.Pro1779Ser)
|
rs374271060
|
|
NM_001271.4(CHD2):c.5344C>T (p.Pro1782Ser)
|
|
|
NM_001271.4(CHD2):c.5354C>T (p.Ser1785Leu)
|
rs1265214152
|
|
NM_001271.4(CHD2):c.5357A>T (p.Asp1786Val)
|
rs2054570777
|
|
NM_001271.4(CHD2):c.5359C>A (p.Pro1787Thr)
|
|
|
NM_001271.4(CHD2):c.5366C>T (p.Ser1789Leu)
|
rs2054570944
|
|
NM_001271.4(CHD2):c.5384CTC[1] (p.Pro1796del)
|
rs757944116
|
|
NM_001271.4(CHD2):c.5399A>G (p.Lys1800Arg)
|
rs2054571292
|
|
NM_001271.4(CHD2):c.5413C>T (p.His1805Tyr)
|
rs2141761768
|
|
NM_001271.4(CHD2):c.5416A>T (p.Arg1806Trp)
|
rs12906163
|
|
NM_001271.4(CHD2):c.5441A>G (p.Glu1814Gly)
|
|
|
NM_001271.4(CHD2):c.5443C>A (p.Gln1815Lys)
|
|
|
NM_001271.4(CHD2):c.5443_5447del (p.Gln1815fs)
|
|
|
NM_001271.4(CHD2):c.5444A>G (p.Gln1815Arg)
|
rs770556699
|
|
NM_001271.4(CHD2):c.5456C>G (p.Pro1819Arg)
|
|
|
NM_001271.4(CHD2):c.5471A>G (p.Asn1824Ser)
|
|
|
NM_001271.4(CHD2):c.5476C>A (p.Arg1826=)
|
rs759398974
|
|
NM_001271.4(CHD2):c.5476C>G (p.Arg1826Gly)
|
|
|
NM_001271.4(CHD2):c.551+3G>A
|
rs2141773591
|
|
NM_001271.4(CHD2):c.552-5T>C
|
rs2141778314
|
|
NM_001271.4(CHD2):c.593A>G (p.Gln198Arg)
|
rs927044414
|
|
NM_001271.4(CHD2):c.59C>G (p.Ser20Trp)
|
rs1057524801
|
|
NM_001271.4(CHD2):c.607A>G (p.Lys203Glu)
|
rs2141778395
|
|
NM_001271.4(CHD2):c.608A>T (p.Lys203Ile)
|
|
|
NM_001271.4(CHD2):c.616G>C (p.Asp206His)
|
rs2141778412
|
|
NM_001271.4(CHD2):c.617A>G (p.Asp206Gly)
|
rs2141778416
|
|
NM_001271.4(CHD2):c.62+3A>G
|
|
|
NM_001271.4(CHD2):c.63-5A>G
|
|
|
NM_001271.4(CHD2):c.631G>A (p.Asp211Asn)
|
|
|
NM_001271.4(CHD2):c.635A>G (p.Asp212Gly)
|
|
|
NM_001271.4(CHD2):c.645C>G (p.Asp215Glu)
|
|
|
NM_001271.4(CHD2):c.682A>G (p.Lys228Glu)
|
|
|
NM_001271.4(CHD2):c.688G>A (p.Val230Ile)
|
rs762370978
|
|
NM_001271.4(CHD2):c.692+10A>G
|
rs370469675
|
|
NM_001271.4(CHD2):c.692+5G>A
|
|
|
NM_001271.4(CHD2):c.692G>A (p.Ser231Asn)
|
rs1262732938
|
|
NM_001271.4(CHD2):c.698A>G (p.Lys233Arg)
|
|
|
NM_001271.4(CHD2):c.721G>C (p.Asp241His)
|
rs2141785066
|
|
NM_001271.4(CHD2):c.733C>A (p.Leu245Ile)
|
|
|
NM_001271.4(CHD2):c.757G>A (p.Val253Ile)
|
rs2053388088
|
|
NM_001271.4(CHD2):c.761A>T (p.Asp254Val)
|
|
|
NM_001271.4(CHD2):c.787A>G (p.Ile263Val)
|
|
|
NM_001271.4(CHD2):c.810A>C (p.Arg270Ser)
|
rs2053388439
|
|
NM_001271.4(CHD2):c.81A>C (p.Glu27Asp)
|
rs2053017198
|
|
NM_001271.4(CHD2):c.827C>T (p.Ala276Val)
|
|
|
NM_001271.4(CHD2):c.847G>C (p.Val283Leu)
|
|
|
NM_001271.4(CHD2):c.856A>G (p.Ile286Val)
|
rs1457822140
|
|
NM_001271.4(CHD2):c.867T>G (p.Asn289Lys)
|
|
|
NM_001271.4(CHD2):c.878G>A (p.Ser293Asn)
|
rs1555439526
|
|
NM_001271.4(CHD2):c.880G>A (p.Gly294Ser)
|
|
|
NM_001271.4(CHD2):c.887T>A (p.Phe296Tyr)
|
rs2141787468
|
|
NM_001271.4(CHD2):c.88G>A (p.Gly30Ser)
|
|
|
NM_001271.4(CHD2):c.892A>G (p.Thr298Ala)
|
|
|
NM_001271.4(CHD2):c.942G>T (p.Trp314Cys)
|
|
|
NM_001271.4(CHD2):c.943T>C (p.Ser315Pro)
|
rs138279266
|
|
NM_001271.4(CHD2):c.955A>G (p.Ser319Gly)
|
|
|
NM_001271.4(CHD2):c.998A>T (p.Lys333Met)
|
|
|
NM_001278064.2(GRM1):c.829C>A (p.Leu277Ile)
|
rs1022097029
|
|
NM_001278293.3(ARL6):c.*275G>A
|
rs886058939
|
|
NM_001278293.3(ARL6):c.-27-1461A>T
|
rs143739859
|
|
NM_001278293.3(ARL6):c.107A>G (p.Lys36Arg)
|
|
|
NM_001278293.3(ARL6):c.109C>G (p.Leu37Val)
|
rs746549147
|
|
NM_001278293.3(ARL6):c.122A>G (p.Asn41Ser)
|
rs1488740103
|
|
NM_001278293.3(ARL6):c.140T>A (p.Ile47Asn)
|
rs757995078
|
|
NM_001278293.3(ARL6):c.140T>C (p.Ile47Thr)
|
|
|
NM_001278293.3(ARL6):c.143T>A (p.Leu48His)
|
rs895572972
|
|
NM_001278293.3(ARL6):c.152T>C (p.Ile51Thr)
|
|
|
NM_001278293.3(ARL6):c.166G>C (p.Glu56Gln)
|
rs2108031980
|
|
NM_001278293.3(ARL6):c.17G>A (p.Arg6Lys)
|
rs751957701
|
|
NM_001278293.3(ARL6):c.215G>C (p.Gly72Ala)
|
|
|
NM_001278293.3(ARL6):c.221G>A (p.Gly74Glu)
|
|
|
NM_001278293.3(ARL6):c.235C>T (p.Leu79Phe)
|
|
|
NM_001278293.3(ARL6):c.254+1371G>A
|
|
|
NM_001278293.3(ARL6):c.255A>G (p.Lys85=)
|
|
|
NM_001278293.3(ARL6):c.266C>A (p.Ala89Asp)
|
rs587777805
|
|
NM_001278293.3(ARL6):c.296G>A (p.Arg99Lys)
|
|
|
NM_001278293.3(ARL6):c.308T>C (p.Val103Ala)
|
|
|
NM_001278293.3(ARL6):c.30G>C (p.Leu10Phe)
|
rs963216166
|
|
NM_001278293.3(ARL6):c.319GAA[1] (p.Glu108del)
|
|
|
NM_001278293.3(ARL6):c.320A>G (p.Glu107Gly)
|
|
|
NM_001278293.3(ARL6):c.328G>A (p.Asp110Asn)
|
rs200100002
|
|
NM_001278293.3(ARL6):c.341A>G (p.Asn114Ser)
|
rs2037385151
|
|
NM_001278293.3(ARL6):c.349+4T>C
|
rs1214919112
|
|
NM_001278293.3(ARL6):c.365G>C (p.Arg122Pro)
|
rs142258123
|
|
NM_001278293.3(ARL6):c.386C>T (p.Ala129Val)
|
|
|
NM_001278293.3(ARL6):c.409G>T (p.Ala137Ser)
|
|
|
NM_001278293.3(ARL6):c.40AAG[2] (p.Lys16del)
|
rs748472414
|
|
NM_001278293.3(ARL6):c.43A>G (p.Lys15Glu)
|
rs535835888
|
|
NM_001278293.3(ARL6):c.479+4_479+5del
|
rs1285267571
|
|
NM_001278293.3(ARL6):c.480-3C>G
|
rs2108084021
|
|
NM_001278293.3(ARL6):c.482C>T (p.Ala161Val)
|
rs1188627299
|
|
NM_001278293.3(ARL6):c.49G>A (p.Glu17Lys)
|
rs201736026
|
|
NM_001278293.3(ARL6):c.4G>C (p.Gly2Arg)
|
|
|
NM_001278293.3(ARL6):c.521T>C (p.Val174Ala)
|
|
|
NM_001278293.3(ARL6):c.524A>C (p.Asp175Ala)
|
rs570080567
|
|
NM_001278293.3(ARL6):c.526T>C (p.Trp176Arg)
|
rs886058938
|
|
NM_001278293.3(ARL6):c.52G>A (p.Val18Ile)
|
|
|
NM_001278293.3(ARL6):c.551_552del (p.Val184fs)
|
rs2038086555
|
|
NM_001278293.3(ARL6):c.71G>A (p.Gly24Glu)
|
rs1282560467
|
|
NM_001278293.3(ARL6):c.76G>T (p.Asp26Tyr)
|
|
|
NM_001297.5(CNGB1):c.*1085A>G
|
rs1959802217
|
|
NM_001297.5(CNGB1):c.*1508C>T
|
rs1346378346
|
|
NM_001297.5(CNGB1):c.*170C>G
|
rs931662996
|
|
NM_001297.5(CNGB1):c.*1800C>T
|
rs1959778647
|
|
NM_001297.5(CNGB1):c.*24C>A
|
rs371395789
|
|
NM_001297.5(CNGB1):c.*611G>A
|
rs886052189
|
|
NM_001297.5(CNGB1):c.*70C>G
|
rs1959831823
|
|
NM_001297.5(CNGB1):c.*720A>G
|
rs547306682
|
|
NM_001297.5(CNGB1):c.*837C>T
|
rs900274353
|
|
NM_001297.5(CNGB1):c.1034+14G>A
|
rs1324984264
|
|
NM_001297.5(CNGB1):c.1056G>A (p.Glu352=)
|
rs773973583
|
|
NM_001297.5(CNGB1):c.1149G>T (p.Ser383=)
|
rs775050027
|
|
NM_001297.5(CNGB1):c.1275C>G (p.Ala425=)
|
rs376016716
|
|
NM_001297.5(CNGB1):c.1373-3C>A
|
rs564200357
|
|
NM_001297.5(CNGB1):c.1418A>G (p.Asp473Gly)
|
rs769808679
|
|
NM_001297.5(CNGB1):c.1500C>G (p.Thr500=)
|
rs75406397
|
|
NM_001297.5(CNGB1):c.1667C>A (p.Thr556Lys)
|
rs199836349
|
|
NM_001297.5(CNGB1):c.1741A>G (p.Lys581Glu)
|
rs1960999459
|
|
NM_001297.5(CNGB1):c.1770C>G (p.Asp590Glu)
|
rs770735553
|
|
NM_001297.5(CNGB1):c.1957+11G>A
|
rs190910346
|
|
NM_001297.5(CNGB1):c.2030G>T (p.Arg677Leu)
|
rs375519490
|
|
NM_001297.5(CNGB1):c.2085T>A (p.Asp695Glu)
|
rs1596976489
|
|
NM_001297.5(CNGB1):c.2095G>A (p.Asp699Asn)
|
rs746268207
|
|
NM_001297.5(CNGB1):c.2304G>C (p.Lys768Asn)
|
rs1596974089
|
|
NM_001297.5(CNGB1):c.2361C>T (p.Tyr787=)
|
rs367678786
|
|
NM_001297.5(CNGB1):c.2412G>A (p.Leu804=)
|
rs374417317
|
|
NM_001297.5(CNGB1):c.2543G>T (p.Gly848Val)
|
rs758072259
|
|
NM_001297.5(CNGB1):c.2599A>G (p.Thr867Ala)
|
rs1960495727
|
|
NM_001297.5(CNGB1):c.2623A>G (p.Met875Val)
|
rs1960494720
|
|
NM_001297.5(CNGB1):c.2634+4T>C
|
rs202096769
|
|
NM_001297.5(CNGB1):c.2634+5C>T
|
rs372812881
|
|
NM_001297.5(CNGB1):c.2853C>A (p.Asp951Glu)
|
rs7190978
|
|
NM_001297.5(CNGB1):c.2853C>T (p.Asp951=)
|
rs7190978
|
|
NM_001297.5(CNGB1):c.2873G>A (p.Ser958Asn)
|
rs1414083701
|
|
NM_001297.5(CNGB1):c.2885T>G (p.Leu962Arg)
|
|
|
NM_001297.5(CNGB1):c.3185T>G (p.Leu1062Arg)
|
rs773593999
|
|
NM_001297.5(CNGB1):c.3244C>T (p.Arg1082Cys)
|
rs199780945
|
|
NM_001297.5(CNGB1):c.3462+8G>T
|
rs368962905
|
|
NM_001297.5(CNGB1):c.3609C>T (p.Ala1203=)
|
rs1319835493
|
|
NM_001297.5(CNGB1):c.3639G>C (p.Glu1213Asp)
|
rs886052191
|
|
NM_001297.5(CNGB1):c.3728C>G (p.Pro1243Arg)
|
rs372109962
|
|
NM_001297.5(CNGB1):c.469C>T (p.Arg157Trp)
|
rs775590206
|
|
NM_001297.5(CNGB1):c.629G>A (p.Arg210Gln)
|
rs759153238
|
|
NM_001297.5(CNGB1):c.746C>A (p.Thr249Asn)
|
rs556681458
|
|
NM_001297.5(CNGB1):c.802C>T (p.Pro268Ser)
|
rs886052193
|
|
NM_001297.5(CNGB1):c.832G>C (p.Glu278Gln)
|
rs1263336688
|
|
NM_001297.5(CNGB1):c.898G>A (p.Val300Met)
|
rs763142627
|
|
NM_001321075.3(DLG4):c.-27C>T
|
rs1555526472
|
|
NM_001330260.2(SCN8A):c.1045G>A (p.Gly349Ser)
|
rs2138742433
|
|
NM_001330260.2(SCN8A):c.1094G>A (p.Arg365His)
|
rs1592390511
|
|
NM_001330260.2(SCN8A):c.1162A>G (p.Met388Val)
|
rs2138748054
|
|
NM_001330260.2(SCN8A):c.1264C>A (p.Leu422Met)
|
rs2138748384
|
|
NM_001330260.2(SCN8A):c.1420C>T (p.Pro474Ser)
|
rs1160066733
|
|
NM_001330260.2(SCN8A):c.1452C>T (p.Ser484=)
|
rs1941787074
|
|
NM_001330260.2(SCN8A):c.1460G>C (p.Ser487Thr)
|
|
|
NM_001330260.2(SCN8A):c.1676A>G (p.His559Arg)
|
|
|
NM_001330260.2(SCN8A):c.1850A>G (p.Tyr617Cys)
|
rs1308021407
|
|
NM_001330260.2(SCN8A):c.197C>A (p.Pro66His)
|
rs1940955829
|
|
NM_001330260.2(SCN8A):c.2105G>C (p.Ser702Thr)
|
rs2138828935
|
|
NM_001330260.2(SCN8A):c.2248G>A (p.Val750Ile)
|
rs1942594128
|
|
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
|
|
|
NM_001330260.2(SCN8A):c.2621C>T (p.Ala874Val)
|
|
|
NM_001330260.2(SCN8A):c.2702A>G (p.Tyr901Cys)
|
rs1942829767
|
|
NM_001330260.2(SCN8A):c.2706del (p.Glu903fs)
|
rs2138862858
|
|
NM_001330260.2(SCN8A):c.2965G>T (p.Asp989Tyr)
|
rs1942878547
|
|
NM_001330260.2(SCN8A):c.297A>C (p.Arg99Ser)
|
rs1565885985
|
|
NM_001330260.2(SCN8A):c.3103G>A (p.Asp1035Asn)
|
|
|
NM_001330260.2(SCN8A):c.3130T>C (p.Cys1044Arg)
|
rs1942882733
|
|
NM_001330260.2(SCN8A):c.3149G>C (p.Gly1050Ala)
|
rs2138868637
|
|
NM_001330260.2(SCN8A):c.3154G>A (p.Asp1052Asn)
|
rs1942883632
|
|
NM_001330260.2(SCN8A):c.3245A>T (p.Asp1082Val)
|
rs2138868846
|
|
NM_001330260.2(SCN8A):c.3295G>A (p.Ala1099Thr)
|
rs1592151654
|
|
NM_001330260.2(SCN8A):c.3307T>A (p.Ser1103Thr)
|
|
|
NM_001330260.2(SCN8A):c.3327C>G (p.Asn1109Lys)
|
|
|
NM_001330260.2(SCN8A):c.3336T>A (p.Asp1112Glu)
|
rs1942887434
|
|
NM_001330260.2(SCN8A):c.3367A>C (p.Lys1123Gln)
|
rs1555226186
|
|
NM_001330260.2(SCN8A):c.3577C>T (p.Leu1193Phe)
|
rs2138871696
|
|
NM_001330260.2(SCN8A):c.3583G>A (p.Val1195Met)
|
rs1942911383
|
|
NM_001330260.2(SCN8A):c.3820-1G>T
|
rs1373881732
|
|
NM_001330260.2(SCN8A):c.3942+248C>G
|
|
|
NM_001330260.2(SCN8A):c.4033G>T (p.Gly1345Ter)
|
rs1555228329
|
|
NM_001330260.2(SCN8A):c.4078A>T (p.Thr1360Ser)
|
rs796053215
|
|
NM_001330260.2(SCN8A):c.4082C>G (p.Ser1361Cys)
|
|
|
NM_001330260.2(SCN8A):c.4146_4147dup (p.Asn1383fs)
|
rs1555228380
|
|
NM_001330260.2(SCN8A):c.4196T>C (p.Val1399Ala)
|
rs2138904540
|
|
NM_001330260.2(SCN8A):c.4235T>C (p.Phe1412Ser)
|
rs1555228665
|
|
NM_001330260.2(SCN8A):c.4282-10C>G
|
rs369145855
|
|
NM_001330260.2(SCN8A):c.4587G>T (p.Met1529Ile)
|
|
|
NM_001330260.2(SCN8A):c.4594A>T (p.Ile1532Phe)
|
rs1555229496
|
|
NM_001330260.2(SCN8A):c.4877G>A (p.Arg1626His)
|
|
|
NM_001330260.2(SCN8A):c.4900G>A (p.Ala1634Thr)
|
rs996870199
|
|
NM_001330260.2(SCN8A):c.4924T>C (p.Phe1642Leu)
|
rs1938703650
|
|
NM_001330260.2(SCN8A):c.4966C>T (p.Leu1656Phe)
|
rs1938704933
|
|
NM_001330260.2(SCN8A):c.5047G>A (p.Asp1683Asn)
|
rs1023188648
|
|
NM_001330260.2(SCN8A):c.5087T>G (p.Ile1696Ser)
|
|
|
NM_001330260.2(SCN8A):c.5181C>A (p.His1727Gln)
|
rs1057519190
|
|
NM_001330260.2(SCN8A):c.5307C>A (p.Phe1769Leu)
|
|
|
NM_001330260.2(SCN8A):c.5740G>A (p.Gly1914Ser)
|
|
|
NM_001330260.2(SCN8A):c.5793C>G (p.His1931Gln)
|
rs1938732126
|
|
NM_001330260.2(SCN8A):c.772A>G (p.Thr258Ala)
|
|
|
NM_001352514.2(HLCS):c.*1614dup
|
rs886057068
|
|
NM_001352514.2(HLCS):c.*1997G>A
|
rs886057066
|
|
NM_001352514.2(HLCS):c.*2023G>A
|
rs886057065
|
|
NM_001352514.2(HLCS):c.*2267G>T
|
rs886057064
|
|
NM_001352514.2(HLCS):c.*2285G>A
|
rs886057063
|
|
NM_001352514.2(HLCS):c.*2647T>A
|
rs2089366675
|
|
NM_001352514.2(HLCS):c.*270dup
|
rs886057074
|
|
NM_001352514.2(HLCS):c.*2952CT[1]
|
rs886057061
|
|
NM_001352514.2(HLCS):c.*3050A>G
|
rs2089352875
|
|
NM_001352514.2(HLCS):c.*305T>C
|
rs2089455426
|
|
NM_001352514.2(HLCS):c.*3161G>T
|
rs886057060
|
|
NM_001352514.2(HLCS):c.*3162T>A
|
rs552016201
|
|
NM_001352514.2(HLCS):c.*3175A>G
|
rs2089348881
|
|
NM_001352514.2(HLCS):c.*3226del
|
rs35955622
|
|
NM_001352514.2(HLCS):c.*3226dup
|
rs35955622
|
|
NM_001352514.2(HLCS):c.1003G>A (p.Asp335Asn)
|
|
|
NM_001352514.2(HLCS):c.1030C>T (p.Leu344Phe)
|
|
|
NM_001352514.2(HLCS):c.1058T>C (p.Leu353Pro)
|
|
|
NM_001352514.2(HLCS):c.1081T>C (p.Cys361Arg)
|
|
|
NM_001352514.2(HLCS):c.1093G>T (p.Val365Phe)
|
rs1569216588
|
|
NM_001352514.2(HLCS):c.1102A>C (p.Thr368Pro)
|
|
|
NM_001352514.2(HLCS):c.1123G>C (p.Asp375His)
|
|
|
NM_001352514.2(HLCS):c.1132C>G (p.Gln378Glu)
|
|
|
NM_001352514.2(HLCS):c.1148A>G (p.Tyr383Cys)
|
|
|
NM_001352514.2(HLCS):c.1150C>A (p.Leu384Ile)
|
rs538157231
|
|
NM_001352514.2(HLCS):c.1233C>A (p.His411Gln)
|
rs1601802008
|
|
NM_001352514.2(HLCS):c.1264G>A (p.Ala422Thr)
|
|
|
NM_001352514.2(HLCS):c.1276G>A (p.Glu426Lys)
|
|
|
NM_001352514.2(HLCS):c.1295T>C (p.Leu432Ser)
|
|
|
NM_001352514.2(HLCS):c.1312T>C (p.Tyr438His)
|
|
|
NM_001352514.2(HLCS):c.1324C>G (p.Pro442Ala)
|
|
|
NM_001352514.2(HLCS):c.1342G>C (p.Gly448Arg)
|
|
|
NM_001352514.2(HLCS):c.1414G>A (p.Gly472Arg)
|
rs748444836
|
|
NM_001352514.2(HLCS):c.1414G>C (p.Gly472Arg)
|
rs748444836
|
|
NM_001352514.2(HLCS):c.1414G>T (p.Gly472Trp)
|
|
|
NM_001352514.2(HLCS):c.1436A>G (p.Gln479Arg)
|
rs899013389
|
|
NM_001352514.2(HLCS):c.1438G>T (p.Val480Leu)
|
|
|
NM_001352514.2(HLCS):c.1535G>A (p.Arg512Lys)
|
rs747688148
|
|
NM_001352514.2(HLCS):c.1535G>C (p.Arg512Thr)
|
|
|
NM_001352514.2(HLCS):c.1612G>A (p.Ala538Thr)
|
|
|
NM_001352514.2(HLCS):c.1631A>T (p.Asp544Val)
|
|
|
NM_001352514.2(HLCS):c.1658A>G (p.His553Arg)
|
rs2146336242
|
|
NM_001352514.2(HLCS):c.1668C>A (p.Ser556=)
|
rs771923409
|
|
NM_001352514.2(HLCS):c.1685C>A (p.Ser562Tyr)
|
rs770873445
|
|
NM_001352514.2(HLCS):c.1697C>G (p.Ser566Cys)
|
|
|
NM_001352514.2(HLCS):c.1721T>A (p.Val574Glu)
|
|
|
NM_001352514.2(HLCS):c.1741C>T (p.Pro581Ser)
|
|
|
NM_001352514.2(HLCS):c.1774G>A (p.Ala592Thr)
|
rs987805504
|
|
NM_001352514.2(HLCS):c.1781C>T (p.Ser594Leu)
|
rs973578825
|
|
NM_001352514.2(HLCS):c.1856C>G (p.Ala619Gly)
|
rs767190021
|
|
NM_001352514.2(HLCS):c.1879C>T (p.Arg627Cys)
|
|
|
NM_001352514.2(HLCS):c.1880G>A (p.Arg627His)
|
|
|
NM_001352514.2(HLCS):c.1909C>T (p.Pro637Ser)
|
rs2145777265
|
|
NM_001352514.2(HLCS):c.1920G>A (p.Met640Ile)
|
rs2145777174
|
|
NM_001352514.2(HLCS):c.1922G>T (p.Gly641Val)
|
rs1173267062
|
|
NM_001352514.2(HLCS):c.1936G>A (p.Ala646Thr)
|
|
|
NM_001352514.2(HLCS):c.1937C>T (p.Ala646Val)
|
|
|
NM_001352514.2(HLCS):c.1942C>T (p.Arg648Trp)
|
|
|
NM_001352514.2(HLCS):c.1954G>C (p.Gly652Arg)
|
rs1555885056
|
|
NM_001352514.2(HLCS):c.1967G>A (p.Gly656Glu)
|
|
|
NM_001352514.2(HLCS):c.1970G>C (p.Gly657Ala)
|
|
|
NM_001352514.2(HLCS):c.1977G>A (p.Val659=)
|
rs886057075
|
|
NM_001352514.2(HLCS):c.2057C>T (p.Pro686Leu)
|
|
|
NM_001352514.2(HLCS):c.2080G>A (p.Val694Met)
|
|
|
NM_001352514.2(HLCS):c.2087T>C (p.Val696Ala)
|
|
|
NM_001352514.2(HLCS):c.2203A>G (p.Thr735Ala)
|
rs2089755704
|
|
NM_001352514.2(HLCS):c.2210T>C (p.Met737Thr)
|
|
|
NM_001352514.2(HLCS):c.2215G>A (p.Glu739Lys)
|
|
|
NM_001352514.2(HLCS):c.2230C>T (p.Leu744Phe)
|
|
|
NM_001352514.2(HLCS):c.2246T>G (p.Phe749Cys)
|
|
|
NM_001352514.2(HLCS):c.2251G>A (p.Val751Met)
|
rs1555882115
|
|
NM_001352514.2(HLCS):c.2267C>G (p.Pro756Arg)
|
rs1601100788
|
|
NM_001352514.2(HLCS):c.2268_2270del (p.Thr757del)
|
rs1555882090
|
|
NM_001352514.2(HLCS):c.2291T>A (p.Ile764Asn)
|
rs2145731806
|
|
NM_001352514.2(HLCS):c.2330C>T (p.Pro777Leu)
|
|
|
NM_001352514.2(HLCS):c.2347C>G (p.Leu783Val)
|
|
|
NM_001352514.2(HLCS):c.2360T>C (p.Val787Ala)
|
|
|
NM_001352514.2(HLCS):c.2368G>A (p.Val790Met)
|
|
|
NM_001352514.2(HLCS):c.2413A>G (p.Ser805Gly)
|
rs755620019
|
|
NM_001352514.2(HLCS):c.2418C>T (p.Val806=)
|
rs759416272
|
|
NM_001352514.2(HLCS):c.2450+1_2450+2del
|
rs2089602804
|
|
NM_001352514.2(HLCS):c.2450+4A>G
|
|
|
NM_001352514.2(HLCS):c.2460A>C (p.Gln820His)
|
|
|
NM_001352514.2(HLCS):c.2476G>T (p.Ala826Ser)
|
rs376898721
|
|
NM_001352514.2(HLCS):c.2495C>T (p.Ser832Phe)
|
|
|
NM_001352514.2(HLCS):c.2501T>C (p.Val834Ala)
|
rs2123556320
|
|
NM_001352514.2(HLCS):c.2501_2503dup (p.Val834dup)
|
rs773191073
|
|
NM_001352514.2(HLCS):c.2529G>A (p.Gln843=)
|
rs767700692
|
|
NM_001352514.2(HLCS):c.2551G>A (p.Val851Ile)
|
|
|
NM_001352514.2(HLCS):c.2567del (p.Pro856fs)
|
rs1555880930
|
|
NM_001352514.2(HLCS):c.2572G>A (p.Gly858Ser)
|
|
|
NM_001352514.2(HLCS):c.2581T>G (p.Phe861Val)
|
|
|
NM_001352514.2(HLCS):c.2587_2588del (p.Met863fs)
|
rs1555880894
|
|
NM_001352514.2(HLCS):c.2600del (p.Leu867fs)
|
rs761447836
|
|
NM_001352514.2(HLCS):c.2605C>T (p.Leu869Phe)
|
|
|
NM_001352514.2(HLCS):c.2611_2614del (p.Lys871fs)
|
rs774356408
|
|
NM_001352514.2(HLCS):c.2614C>T (p.Arg872Trp)
|
|
|
NM_001352514.2(HLCS):c.2618G>A (p.Arg873Gln)
|
|
|
NM_001352514.2(HLCS):c.442A>C (p.Met148Leu)
|
rs764841449
|
|
NM_001352514.2(HLCS):c.449A>G (p.Asp150Gly)
|
rs761490181
|
|
NM_001352514.2(HLCS):c.458A>G (p.His153Arg)
|
|
|
NM_001352514.2(HLCS):c.460A>G (p.Met154Val)
|
|
|
NM_001352514.2(HLCS):c.463G>A (p.Asp155Asn)
|
|
|
NM_001352514.2(HLCS):c.481C>G (p.Gln161Glu)
|
|
|
NM_001352514.2(HLCS):c.485A>C (p.Lys162Thr)
|
|
|
NM_001352514.2(HLCS):c.489T>G (p.Ile163Met)
|
rs886057079
|
|
NM_001352514.2(HLCS):c.491T>C (p.Val164Ala)
|
rs2146535803
|
|
NM_001352514.2(HLCS):c.493+9C>A
|
rs886057078
|
|
NM_001352514.2(HLCS):c.494-25TC[4]
|
rs146532042
|
|
NM_001352514.2(HLCS):c.495G>A (p.Ser165=)
|
rs1254077652
|
|
NM_001352514.2(HLCS):c.497T>C (p.Val166Ala)
|
|
|
NM_001352514.2(HLCS):c.503T>G (p.Leu168Trp)
|
|
|
NM_001352514.2(HLCS):c.504G>T (p.Leu168Phe)
|
|
|
NM_001352514.2(HLCS):c.526G>C (p.Val176Leu)
|
|
|
NM_001352514.2(HLCS):c.581C>T (p.Pro194Leu)
|
rs565756796
|
|
NM_001352514.2(HLCS):c.586C>T (p.Leu196Phe)
|
|
|
NM_001352514.2(HLCS):c.599C>T (p.Pro200Leu)
|
|
|
NM_001352514.2(HLCS):c.652G>A (p.Glu218Lys)
|
rs2066934793
|
|
NM_001352514.2(HLCS):c.737A>G (p.Tyr246Cys)
|
rs765150200
|
|
NM_001352514.2(HLCS):c.767G>T (p.Cys256Phe)
|
rs2066926744
|
|
NM_001352514.2(HLCS):c.809C>T (p.Ala270Val)
|
|
|
NM_001352514.2(HLCS):c.832C>T (p.Leu278Phe)
|
|
|
NM_001352514.2(HLCS):c.853A>G (p.Ser285Gly)
|
|
|
NM_001352514.2(HLCS):c.908A>T (p.Asn303Ile)
|
rs912685138
|
|
NM_001352514.2(HLCS):c.909C>A (p.Asn303Lys)
|
|
|
NM_001352514.2(HLCS):c.919A>G (p.Lys307Glu)
|
|
|
NM_001352514.2(HLCS):c.941A>C (p.Tyr314Ser)
|
rs778638155
|
|
NM_001352514.2(HLCS):c.946G>T (p.Gly316Cys)
|
|
|
NM_001352514.2(HLCS):c.952G>A (p.Asp318Asn)
|
|
|
NM_001352514.2(HLCS):c.989G>C (p.Arg330Pro)
|
rs368754318
|
|
NM_001354768.3(NRL):c.*1043G>A
|
rs767236932
|
|
NM_001354768.3(NRL):c.*480A>G
|
rs886050427
|
|
NM_001354768.3(NRL):c.*56G>A
|
rs886050428
|
|
NM_001354768.3(NRL):c.*673C>A
|
rs2036249329
|
|
NM_001354768.3(NRL):c.*780G>C
|
rs886050426
|
|
NM_001354768.3(NRL):c.*813G>A
|
rs560755924
|
|
NM_001354768.3(NRL):c.-27-1663C>T
|
rs2036417721
|
|
NM_001354768.3(NRL):c.227C>G (p.Ala76Gly)
|
rs149921817
|
|
NM_001354768.3(NRL):c.448_466dup (p.Glu156fs)
|
rs1555339028
|
|
NM_001354768.3(NRL):c.559C>A (p.Leu187Met)
|
rs35984106
|
|
NM_001363700.2(LIAS):c.299+1682_299+1690del
|
rs776064587
|
|
NM_001365.5(DLG4):c.159+435_159+439del
|
rs1178274476
|
|
NM_001365.5(DLG4):c.159+439_159+444dup
|
rs1258394272
|
|
NM_001365.5(DLG4):c.159+465C>T
|
rs1555526671
|
|
NM_001365.5(DLG4):c.159+472G>A
|
rs1555526667
|
|
NM_001365.5(DLG4):c.159+487G>A
|
rs1237915800
|
|
NM_001365.5(DLG4):c.159+489GCTTCT[3]
|
rs1555526655
|
|
NM_001367225.1(CA5A):c.899A>G (p.His300Arg)
|
|
|
NM_001367823.1(ARHGEF18):c.1105G>C (p.Gly369Arg)
|
rs115555106
|
|
NM_001367823.1(ARHGEF18):c.3161C>T (p.Ala1054Val)
|
|
|
NM_001367823.1(ARHGEF18):c.968-251G>A
|
|
|
NM_001370348.2(PHF3):c.*6340C>T
|
rs1768312466
|
|
NM_001370348.2(PHF3):c.*6602A>T
|
rs553600976
|
|
NM_001370348.2(PHF3):c.*6699A>G
|
rs1195516155
|
|
NM_001370348.2(PHF3):c.*8104A>T
|
rs886061665
|
|
NM_001370658.1(BTD):c.*159G>A
|
rs530872564
|
|
NM_001370658.1(BTD):c.-16-2A>G
|
|
|
NM_001370658.1(BTD):c.-17+19_-17+39del
|
rs1559571027
|
|
NM_001370658.1(BTD):c.-18A>G
|
|
|
NM_001370658.1(BTD):c.-45A>T
|
rs540641302
|
|
NM_001370658.1(BTD):c.-51G>T
|
|
|
NM_001370658.1(BTD):c.-58G>A
|
rs1553646827
|
|
NM_001370658.1(BTD):c.-59T>C
|
rs768258310
|
|
NM_001370658.1(BTD):c.-60A>G
|
rs1553646820
|
|
NM_001370658.1(BTD):c.1001C>T (p.Thr334Met)
|
|
|
NM_001370658.1(BTD):c.1068G>C (p.Gln356His)
|
|
|
NM_001370658.1(BTD):c.1076A>G (p.His359Arg)
|
rs763540316
|
|
NM_001370658.1(BTD):c.1102G>A (p.Val368Met)
|
|
|
NM_001370658.1(BTD):c.1110TCC[1] (p.Pro372del)
|
|
|
NM_001370658.1(BTD):c.1114C>T (p.Pro372Ser)
|
rs886058116
|
|
NM_001370658.1(BTD):c.1116_1118del (p.Thr373del)
|
rs2065654912
|
|
NM_001370658.1(BTD):c.1135A>T (p.Met379Leu)
|
rs1295528438
|
|
NM_001370658.1(BTD):c.113A>G (p.Tyr38Cys)
|
|
|
NM_001370658.1(BTD):c.1163T>C (p.Val388Ala)
|
rs1553654038
|
|
NM_001370658.1(BTD):c.1177G>A (p.Gly393Ser)
|
rs374141881
|
|
NM_001370658.1(BTD):c.1177G>C (p.Gly393Arg)
|
|
|
NM_001370658.1(BTD):c.1190_1191delinsAG (p.Val397Glu)
|
rs2125504798
|
|
NM_001370658.1(BTD):c.1192T>C (p.Cys398Arg)
|
rs397514408
|
|
NM_001370658.1(BTD):c.1199A>G (p.Asn400Ser)
|
|
|
NM_001370658.1(BTD):c.1205T>C (p.Leu402Pro)
|
rs2125504955
|
|
NM_001370658.1(BTD):c.1226A>C (p.Glu409Ala)
|
rs2125505114
|
|
NM_001370658.1(BTD):c.1249C>G (p.Leu417Val)
|
rs1553654107
|
|
NM_001370658.1(BTD):c.1264G>A (p.Val422Ile)
|
rs776369447
|
|
NM_001370658.1(BTD):c.1268T>A (p.Phe423Tyr)
|
|
|
NM_001370658.1(BTD):c.1274G>A (p.Gly425Glu)
|
rs397514402
|
|
NM_001370658.1(BTD):c.1286T>C (p.Val429Ala)
|
rs2065663213
|
|
NM_001370658.1(BTD):c.1289A>C (p.His430Pro)
|
rs559136372
|
|
NM_001370658.1(BTD):c.1298A>C (p.Tyr433Ser)
|
rs2125505641
|
|
NM_001370658.1(BTD):c.1309G>T (p.Val437Leu)
|
rs146600671
|
|
NM_001370658.1(BTD):c.1325G>A (p.Arg442Lys)
|
rs2125505856
|
|
NM_001370658.1(BTD):c.1328G>A (p.Cys443Tyr)
|
rs397514421
|
|
NM_001370658.1(BTD):c.1346A>G (p.Asp449Gly)
|
|
|
NM_001370658.1(BTD):c.1376C>T (p.Thr459Met)
|
|
|
NM_001370658.1(BTD):c.1421A>G (p.Tyr474Cys)
|
rs750598655
|
|
NM_001370658.1(BTD):c.1427T>C (p.Phe476Ser)
|
rs886058117
|
|
NM_001370658.1(BTD):c.1456C>A (p.Leu486Ile)
|
rs774018881
|
|
NM_001370658.1(BTD):c.1459G>A (p.Glu487Lys)
|
|
|
NM_001370658.1(BTD):c.1468G>A (p.Asp490Asn)
|
|
|
NM_001370658.1(BTD):c.1496A>G (p.Tyr499Cys)
|
rs199859507
|
|
NM_001370658.1(BTD):c.14G>T (p.Arg5Ile)
|
|
|
NM_001370658.1(BTD):c.1503del (p.Arg502fs)
|
rs1163419871
|
|
NM_001370658.1(BTD):c.1522T>C (p.Ser508Pro)
|
|
|
NM_001370658.1(BTD):c.1538C>T (p.Ala513Val)
|
|
|
NM_001370658.1(BTD):c.179A>C (p.Gln60Pro)
|
rs2065326975
|
|
NM_001370658.1(BTD):c.185C>T (p.Ala62Val)
|
rs397507171
|
|
NM_001370658.1(BTD):c.187_195del (p.Leu63_Leu65del)
|
rs397514346
|
|
NM_001370658.1(BTD):c.188T>C (p.Leu63Ser)
|
rs397514347
|
|
NM_001370658.1(BTD):c.195C>T (p.Leu65=)
|
rs2125454784
|
|
NM_001370658.1(BTD):c.239C>T (p.Ala80Val)
|
rs1553652171
|
|
NM_001370658.1(BTD):c.249+5G>T
|
rs2065329555
|
|
NM_001370658.1(BTD):c.251A>G (p.Asp84Gly)
|
|
|
NM_001370658.1(BTD):c.271C>G (p.Pro91Ala)
|
rs1553653070
|
|
NM_001370658.1(BTD):c.286C>T (p.His96Tyr)
|
rs776422082
|
|
NM_001370658.1(BTD):c.304A>G (p.Arg102Gly)
|
rs397514354
|
|
NM_001370658.1(BTD):c.33C>A (p.Phe11Leu)
|
|
|
NM_001370658.1(BTD):c.340T>C (p.Ser114Pro)
|
|
|
NM_001370658.1(BTD):c.347A>G (p.Gln116Arg)
|
|
|
NM_001370658.1(BTD):c.351_352delinsTT (p.Val118Phe)
|
|
|
NM_001370658.1(BTD):c.369C>G (p.Cys123Trp)
|
|
|
NM_001370658.1(BTD):c.373G>C (p.Glu125Gln)
|
|
|
NM_001370658.1(BTD):c.382C>G (p.Arg128Gly)
|
rs137877018
|
|
NM_001370658.1(BTD):c.416G>A (p.Ser139Asn)
|
rs144717999
|
|
NM_001370658.1(BTD):c.41_44del (p.Gly14fs)
|
rs1249246307
|
|
NM_001370658.1(BTD):c.423G>A (p.Met141Ile)
|
|
|
NM_001370658.1(BTD):c.444C>A (p.Phe148Leu)
|
rs184742694
|
|
NM_001370658.1(BTD):c.449T>C (p.Val150Ala)
|
|
|
NM_001370658.1(BTD):c.490C>T (p.Pro164Ser)
|
|
|
NM_001370658.1(BTD):c.494G>A (p.Arg165Lys)
|
|
|
NM_001370658.1(BTD):c.498C>G (p.Cys166Trp)
|
rs2125500615
|
|
NM_001370658.1(BTD):c.506A>G (p.Asp169Gly)
|
rs139829181
|
|
NM_001370658.1(BTD):c.522C>G (p.Phe174Leu)
|
rs750363004
|
|
NM_001370658.1(BTD):c.545A>T (p.Asn182Ile)
|
rs397514376
|
|
NM_001370658.1(BTD):c.550G>A (p.Gly184Arg)
|
|
|
NM_001370658.1(BTD):c.557T>G (p.Leu186Arg)
|
|
|
NM_001370658.1(BTD):c.557TTG[1] (p.Val187del)
|
rs1553653699
|
|
NM_001370658.1(BTD):c.719A>C (p.Asp240Ala)
|
|
|
NM_001370658.1(BTD):c.721_723del (p.Tyr241del)
|
rs1553653835
|
|
NM_001370658.1(BTD):c.727G>T (p.Val243Leu)
|
|
|
NM_001370658.1(BTD):c.737T>A (p.Val246Asp)
|
|
|
NM_001370658.1(BTD):c.750_752delinsCTA (p.Ala251Tyr)
|
|
|
NM_001370658.1(BTD):c.765G>C (p.Gln255His)
|
|
|
NM_001370658.1(BTD):c.773T>C (p.Leu258Pro)
|
rs397514389
|
|
NM_001370658.1(BTD):c.784A>T (p.Ile262Phe)
|
rs549204682
|
|
NM_001370658.1(BTD):c.795G>C (p.Gln265His)
|
rs1553653855
|
|
NM_001370658.1(BTD):c.806C>T (p.Ala269Val)
|
rs1057520533
|
|
NM_001370658.1(BTD):c.817G>A (p.Gly273Ser)
|
rs762757117
|
|
NM_001370658.1(BTD):c.817G>C (p.Gly273Arg)
|
rs762757117
|
|
NM_001370658.1(BTD):c.825C>A (p.Asn275Lys)
|
|
|
NM_001370658.1(BTD):c.826G>A (p.Val276Ile)
|
|
|
NM_001370658.1(BTD):c.844C>T (p.His282Tyr)
|
rs398123142
|
|
NM_001370658.1(BTD):c.846C>G (p.His282Gln)
|
rs2125502649
|
|
NM_001370658.1(BTD):c.862A>C (p.Met288Leu)
|
rs757604137
|
|
NM_001370658.1(BTD):c.874G>A (p.Gly292Ser)
|
rs397514396
|
|
NM_001370658.1(BTD):c.881A>G (p.His294Arg)
|
rs1553653888
|
|
NM_001370658.1(BTD):c.886C>A (p.Pro296Thr)
|
rs1553653894
|
|
NM_001370658.1(BTD):c.928A>C (p.Ser310Arg)
|
|
|
NM_001370658.1(BTD):c.941T>A (p.Ile314Asn)
|
rs397514433
|
|
NM_001370658.1(BTD):c.962C>T (p.Pro321Leu)
|
|
|
NM_001370658.1(BTD):c.965T>C (p.Val322Ala)
|
|
|
NM_001370658.1(BTD):c.968G>T (p.Gly323Val)
|
|
|
NM_001370658.1(BTD):c.982G>A (p.Glu328Lys)
|
|
|
NM_001371596.2(MFSD8):c.1445G>C (p.Arg482Pro)
|
|
|
NM_001378477.3(NYX):c.704A>G (p.Asn235Ser)
|
rs2147025940
|
|
NM_001378615.1(CC2D2A):c.1127A>T (p.Glu376Val)
|
rs16892095
|
|
NM_001378615.1(CC2D2A):c.1817A>T (p.Glu606Val)
|
rs747187783
|
|
NM_001378615.1(CC2D2A):c.248-4_248-3insAAGTTTT
|
rs750398145
|
|
NM_001378615.1(CC2D2A):c.2993AAG[2] (p.Glu1000del)
|
rs764874938
|
|
NM_001379270.1(CNGA1):c.*227A>T
|
rs1738627987
|
|
NM_001379270.1(CNGA1):c.-189G>A
|
rs1715125888
|
|
NM_001379270.1(CNGA1):c.-222-2004C>T
|
rs566127226
|
|
NM_001379270.1(CNGA1):c.-222-2043G>C
|
rs1315891464
|
|
NM_001379270.1(CNGA1):c.-222-2054T>G
|
rs1715232781
|
|
NM_001379270.1(CNGA1):c.-222-2062G>T
|
rs1269991697
|
|
NM_001379270.1(CNGA1):c.1061T>C (p.Leu354Pro)
|
rs748126956
|
|
NM_001379270.1(CNGA1):c.1079G>A (p.Gly360Asp)
|
|
|
NM_001379270.1(CNGA1):c.1166T>G (p.Val389Gly)
|
|
|
NM_001379270.1(CNGA1):c.1712G>A (p.Cys571Tyr)
|
rs886059422
|
|
NM_001379270.1(CNGA1):c.226G>A (p.Glu76Lys)
|
|
|
NM_001379270.1(CNGA1):c.35T>C (p.Phe12Ser)
|
rs981071919
|
|
NM_001379270.1(CNGA1):c.816dup (p.Arg273fs)
|
rs767994904
|
|
NM_001379270.1(CNGA1):c.829A>G (p.Met277Val)
|
rs886059423
|
|
NM_001379270.1(CNGA1):c.848G>A (p.Arg283Lys)
|
rs577505007
|
|
NM_001385641.1(SAMD11):c.859C>T (p.Pro287Ser)
|
rs762363509
|
|
NM_001394090.1(CFAP92):c.3281-493A>G
|
rs764208038
|
|
NM_001482.2(GATM):c.-171T>C
|
rs886051204
|
|
NM_001482.3(GATM):c.*104A>G
|
rs886051201
|
|
NM_001482.3(GATM):c.*272C>T
|
rs1889369976
|
|
NM_001482.3(GATM):c.*555A>G
|
rs1889364313
|
|
NM_001482.3(GATM):c.*759C>T
|
rs933437799
|
|
NM_001482.3(GATM):c.*792C>A
|
rs564624011
|
|
NM_001482.3(GATM):c.-72C>T
|
rs886051203
|
|
NM_001482.3(GATM):c.1000G>A (p.Gly334Arg)
|
rs749007953
|
|
NM_001482.3(GATM):c.1006A>G (p.Thr336Ala)
|
rs1889422994
|
|
NM_001482.3(GATM):c.1007C>T (p.Thr336Ile)
|
rs1481334244
|
|
NM_001482.3(GATM):c.1009A>G (p.Ile337Val)
|
rs558560751
|
|
NM_001482.3(GATM):c.1022C>T (p.Pro341Leu)
|
rs1889422661
|
|
NM_001482.3(GATM):c.1037C>A (p.Pro346Gln)
|
|
|
NM_001482.3(GATM):c.1041C>G (p.Asp347Glu)
|
|
|
NM_001482.3(GATM):c.1042+3A>G
|
rs752016309
|
|
NM_001482.3(GATM):c.1042+4T>C
|
rs1191624574
|
|
NM_001482.3(GATM):c.1042+5G>A
|
|
|
NM_001482.3(GATM):c.1043-4T>G
|
rs1889407357
|
|
NM_001482.3(GATM):c.104C>G (p.Thr35Ser)
|
rs1331986925
|
|
NM_001482.3(GATM):c.1067A>G (p.Lys356Arg)
|
rs1889406981
|
|
NM_001482.3(GATM):c.1079T>C (p.Met360Thr)
|
|
|
NM_001482.3(GATM):c.1082A>T (p.Asn361Ile)
|
rs2140638679
|
|
NM_001482.3(GATM):c.1088T>C (p.Leu363Ser)
|
rs753968876
|
|
NM_001482.3(GATM):c.10G>A (p.Val4Met)
|
|
|
NM_001482.3(GATM):c.10G>C (p.Val4Leu)
|
|
|
NM_001482.3(GATM):c.1108G>A (p.Val370Ile)
|
|
|
NM_001482.3(GATM):c.1116G>A (p.Val372=)
|
rs780523679
|
|
NM_001482.3(GATM):c.1118A>G (p.Asp373Gly)
|
|
|
NM_001482.3(GATM):c.1124A>G (p.Asn375Ser)
|
|
|
NM_001482.3(GATM):c.112A>G (p.Ser38Gly)
|
rs1889644507
|
|
NM_001482.3(GATM):c.1144A>T (p.Met382Leu)
|
|
|
NM_001482.3(GATM):c.1159G>C (p.Gly387Arg)
|
rs886051202
|
|
NM_001482.3(GATM):c.1160G>A (p.Gly387Asp)
|
|
|
NM_001482.3(GATM):c.1162A>G (p.Ile388Val)
|
rs1170650328
|
|
NM_001482.3(GATM):c.1166C>G (p.Thr389Ser)
|
|
|
NM_001482.3(GATM):c.1186C>T (p.Arg396Cys)
|
|
|
NM_001482.3(GATM):c.1187G>A (p.Arg396His)
|
|
|
NM_001482.3(GATM):c.1187del (p.Arg396fs)
|
|
|
NM_001482.3(GATM):c.1190A>G (p.Asn397Ser)
|
rs2140635964
|
|
NM_001482.3(GATM):c.1196A>G (p.Asn399Ser)
|
|
|
NM_001482.3(GATM):c.1209del (p.Gly404fs)
|
rs1566838819
|
|
NM_001482.3(GATM):c.120G>C (p.Gln40His)
|
|
|
NM_001482.3(GATM):c.122C>T (p.Ala41Val)
|
rs2140657480
|
|
NM_001482.3(GATM):c.1234G>A (p.Val412Ile)
|
|
|
NM_001482.3(GATM):c.1237C>T (p.Arg413Trp)
|
rs1244824806
|
|
NM_001482.3(GATM):c.1241G>A (p.Arg414His)
|
|
|
NM_001482.3(GATM):c.1243C>T (p.Arg415Ter)
|
rs1357374472
|
|
NM_001482.3(GATM):c.124G>A (p.Ala42Thr)
|
|
|
NM_001482.3(GATM):c.1269C>G (p.Asp423Glu)
|
rs1566838768
|
|
NM_001482.3(GATM):c.128C>G (p.Thr43Arg)
|
rs868522260
|
|
NM_001482.3(GATM):c.128C>T (p.Thr43Met)
|
rs868522260
|
|
NM_001482.3(GATM):c.133T>C (p.Ser45Pro)
|
|
|
NM_001482.3(GATM):c.133T>G (p.Ser45Ala)
|
|
|
NM_001482.3(GATM):c.137C>G (p.Ser46Cys)
|
rs199530681
|
|
NM_001482.3(GATM):c.145T>G (p.Ser49Ala)
|
rs796052537
|
|
NM_001482.3(GATM):c.14G>T (p.Arg5Leu)
|
|
|
NM_001482.3(GATM):c.167C>A (p.Ala56Asp)
|
|
|
NM_001482.3(GATM):c.175C>T (p.Pro59Ser)
|
|
|
NM_001482.3(GATM):c.181C>G (p.Pro61Ala)
|
rs765462268
|
|
NM_001482.3(GATM):c.191G>T (p.Cys64Phe)
|
|
|
NM_001482.3(GATM):c.192C>G (p.Cys64Trp)
|
|
|
NM_001482.3(GATM):c.217G>A (p.Asp73Asn)
|
rs1889642061
|
|
NM_001482.3(GATM):c.220C>A (p.Pro74Thr)
|
|
|
NM_001482.3(GATM):c.221C>T (p.Pro74Leu)
|
|
|
NM_001482.3(GATM):c.222C>T (p.Pro74=)
|
rs774485349
|
|
NM_001482.3(GATM):c.223T>A (p.Leu75Ile)
|
|
|
NM_001482.3(GATM):c.232G>C (p.Val78Leu)
|
|
|
NM_001482.3(GATM):c.23G>A (p.Arg8His)
|
rs1889681963
|
|
NM_001482.3(GATM):c.245G>A (p.Arg82Lys)
|
rs1595485790
|
|
NM_001482.3(GATM):c.269C>G (p.Pro90Arg)
|
rs1261342154
|
|
NM_001482.3(GATM):c.271T>A (p.Phe91Ile)
|
|
|
NM_001482.3(GATM):c.280G>A (p.Glu94Lys)
|
|
|
NM_001482.3(GATM):c.290C>G (p.Ala97Gly)
|
|
|
NM_001482.3(GATM):c.297A>G (p.Thr99=)
|
rs1445305823
|
|
NM_001482.3(GATM):c.306G>C (p.Lys102Asn)
|
rs376335787
|
|
NM_001482.3(GATM):c.314C>T (p.Pro105Leu)
|
rs147804855
|
|
NM_001482.3(GATM):c.322C>G (p.Gln108Glu)
|
|
|
NM_001482.3(GATM):c.323A>G (p.Gln108Arg)
|
rs1398822076
|
|
NM_001482.3(GATM):c.32G>C (p.Ser11Thr)
|
|
|
NM_001482.3(GATM):c.337C>G (p.His113Asp)
|
rs1889504232
|
|
NM_001482.3(GATM):c.347C>T (p.Pro116Leu)
|
|
|
NM_001482.3(GATM):c.350A>G (p.Lys117Arg)
|
rs1472551759
|
|
NM_001482.3(GATM):c.355C>A (p.His119Asn)
|
|
|
NM_001482.3(GATM):c.368C>T (p.Ala123Val)
|
|
|
NM_001482.3(GATM):c.370G>A (p.Val124Ile)
|
|
|
NM_001482.3(GATM):c.371T>C (p.Val124Ala)
|
rs1889503302
|
|
NM_001482.3(GATM):c.378A>T (p.Glu126Asp)
|
rs1889503051
|
|
NM_001482.3(GATM):c.37G>A (p.Gly13Ser)
|
rs1566843333
|
|
NM_001482.3(GATM):c.380T>C (p.Ile127Thr)
|
rs1896556912
|
|
NM_001482.3(GATM):c.387A>T (p.Glu129Asp)
|
rs756420233
|
|
NM_001482.3(GATM):c.394A>C (p.Asn132His)
|
rs767740292
|
|
NM_001482.3(GATM):c.395A>C (p.Asn132Thr)
|
rs759658712
|
|
NM_001482.3(GATM):c.395A>G (p.Asn132Ser)
|
rs759658712
|
|
NM_001482.3(GATM):c.396T>G (p.Asn132Lys)
|
rs1454154614
|
|
NM_001482.3(GATM):c.405A>G (p.Lys135=)
|
rs1889502312
|
|
NM_001482.3(GATM):c.420A>G (p.Thr140=)
|
rs1163045526
|
|
NM_001482.3(GATM):c.433G>A (p.Asp145Asn)
|
rs1555384309
|
|
NM_001482.3(GATM):c.434A>C (p.Asp145Ala)
|
|
|
NM_001482.3(GATM):c.436C>A (p.Pro146Thr)
|
|
|
NM_001482.3(GATM):c.440T>C (p.Ile147Thr)
|
|
|
NM_001482.3(GATM):c.444C>G (p.Asp148Glu)
|
rs1889500716
|
|
NM_001482.3(GATM):c.448T>G (p.Ser150Ala)
|
|
|
NM_001482.3(GATM):c.460A>G (p.Lys154Glu)
|
|
|
NM_001482.3(GATM):c.464C>G (p.Thr155Ser)
|
|
|
NM_001482.3(GATM):c.466C>T (p.Pro156Ser)
|
rs771614762
|
|
NM_001482.3(GATM):c.472T>C (p.Phe158Leu)
|
|
|
NM_001482.3(GATM):c.482C>T (p.Thr161Met)
|
|
|
NM_001482.3(GATM):c.483G>T (p.Thr161=)
|
rs771343478
|
|
NM_001482.3(GATM):c.484+3A>G
|
rs1595483673
|
|
NM_001482.3(GATM):c.49G>T (p.Val17Leu)
|
|
|
NM_001482.3(GATM):c.4C>G (p.Leu2Val)
|
|
|
NM_001482.3(GATM):c.506G>A (p.Arg169Gln)
|
|
|
NM_001482.3(GATM):c.511A>T (p.Ile171Phe)
|
rs747203599
|
|
NM_001482.3(GATM):c.541G>A (p.Glu181Lys)
|
rs376982466
|
|
NM_001482.3(GATM):c.547C>T (p.Pro183Ser)
|
|
|
NM_001482.3(GATM):c.553G>C (p.Ala185Pro)
|
rs2140644920
|
|
NM_001482.3(GATM):c.553G>T (p.Ala185Ser)
|
rs2140644920
|
|
NM_001482.3(GATM):c.566G>T (p.Arg189Leu)
|
|
|
NM_001482.3(GATM):c.56A>G (p.Tyr19Cys)
|
|
|
NM_001482.3(GATM):c.591G>T (p.Arg197Ser)
|
rs1167013064
|
|
NM_001482.3(GATM):c.592T>G (p.Ser198Ala)
|
rs796052535
|
|
NM_001482.3(GATM):c.595A>G (p.Ile199Val)
|
|
|
NM_001482.3(GATM):c.614A>C (p.His205Pro)
|
|
|
NM_001482.3(GATM):c.631A>G (p.Thr211Ala)
|
|
|
NM_001482.3(GATM):c.634A>G (p.Thr212Ala)
|
|
|
NM_001482.3(GATM):c.646C>T (p.Pro216Ser)
|
rs2140644628
|
|
NM_001482.3(GATM):c.652A>G (p.Met218Val)
|
|
|
NM_001482.3(GATM):c.654G>A (p.Met218Ile)
|
rs1555384217
|
|
NM_001482.3(GATM):c.675+3G>C
|
rs1049378713
|
|
NM_001482.3(GATM):c.676-5A>G
|
|
|
NM_001482.3(GATM):c.676G>T (p.Asp226Tyr)
|
|
|
NM_001482.3(GATM):c.683C>G (p.Pro228Arg)
|
|
|
NM_001482.3(GATM):c.685A>G (p.Ile229Val)
|
rs570670146
|
|
NM_001482.3(GATM):c.688C>T (p.His230Tyr)
|
|
|
NM_001482.3(GATM):c.68G>C (p.Arg23Pro)
|
rs370155767
|
|
NM_001482.3(GATM):c.69+4C>T
|
|
|
NM_001482.3(GATM):c.69+5G>A
|
|
|
NM_001482.3(GATM):c.70-5G>A
|
rs752014055
|
|
NM_001482.3(GATM):c.710A>T (p.Lys237Ile)
|
|
|
NM_001482.3(GATM):c.715G>T (p.Ala239Ser)
|
|
|
NM_001482.3(GATM):c.724G>A (p.Gly242Arg)
|
rs1236954285
|
|
NM_001482.3(GATM):c.733G>A (p.Val245Met)
|
|
|
NM_001482.3(GATM):c.74G>A (p.Gly25Glu)
|
|
|
NM_001482.3(GATM):c.752C>T (p.Pro251Leu)
|
rs1424827158
|
|
NM_001482.3(GATM):c.778C>A (p.Arg260=)
|
|
|
NM_001482.3(GATM):c.779G>A (p.Arg260Gln)
|
rs1364915703
|
|
NM_001482.3(GATM):c.77G>A (p.Arg26Gln)
|
|
|
NM_001482.3(GATM):c.77G>T (p.Arg26Leu)
|
|
|
NM_001482.3(GATM):c.789A>C (p.Arg263Ser)
|
|
|
NM_001482.3(GATM):c.792T>G (p.Asp264Glu)
|
|
|
NM_001482.3(GATM):c.798T>G (p.Phe266Leu)
|
|
|
NM_001482.3(GATM):c.827T>G (p.Leu276Arg)
|
rs1889446108
|
|
NM_001482.3(GATM):c.832A>G (p.Ile278Val)
|
|
|
NM_001482.3(GATM):c.843G>A (p.Met281Ile)
|
|
|
NM_001482.3(GATM):c.850C>T (p.His284Tyr)
|
|
|
NM_001482.3(GATM):c.85A>G (p.Thr29Ala)
|
rs763273843
|
|
NM_001482.3(GATM):c.865T>C (p.Tyr289His)
|
|
|
NM_001482.3(GATM):c.877A>T (p.Ile293Phe)
|
rs2140641528
|
|
NM_001482.3(GATM):c.878T>C (p.Ile293Thr)
|
rs1595482625
|
|
NM_001482.3(GATM):c.880A>G (p.Ile294Val)
|
|
|
NM_001482.3(GATM):c.892G>A (p.Asp298Asn)
|
|
|
NM_001482.3(GATM):c.89G>T (p.Gly30Val)
|
rs773473195
|
|
NM_001482.3(GATM):c.905T>C (p.Met302Thr)
|
|
|
NM_001482.3(GATM):c.913_918del (p.Asp305_Ala306del)
|
rs1889444227
|
|
NM_001482.3(GATM):c.917C>G (p.Ala306Gly)
|
|
|
NM_001482.3(GATM):c.924C>G (p.Phe308Leu)
|
rs2140641473
|
|
NM_001482.3(GATM):c.930C>G (p.Ile310Met)
|
|
|
NM_001482.3(GATM):c.932T>C (p.Ile311Thr)
|
rs1460902723
|
|
NM_001482.3(GATM):c.941G>C (p.Gly314Ala)
|
rs1889443912
|
|
NM_001482.3(GATM):c.946G>A (p.Val316Met)
|
rs1889443760
|
|
NM_001482.3(GATM):c.975C>G (p.His325Gln)
|
|
|
NM_001482.3(GATM):c.978+4A>G
|
rs370363696
|
|
NM_001482.3(GATM):c.985C>A (p.Leu329Ile)
|
|
|
NM_001482.3(GATM):c.989T>C (p.Phe330Ser)
|
rs2140639842
|
|
NM_001482.3(GATM):c.991A>C (p.Lys331Gln)
|
rs1566839535
|
|
NM_001482.3(GATM):c.992A>G (p.Lys331Arg)
|
|
|
NM_001482.3(GATM):c.998C>T (p.Ala333Val)
|
rs1156646457
|
|
NM_001510.4(GRID2):c.-62C>T
|
|
|
NM_001510.4(GRID2):c.101A>G (p.Asp34Gly)
|
|
|
NM_001510.4(GRID2):c.1100G>A (p.Arg367His)
|
|
|
NM_001510.4(GRID2):c.121G>T (p.Asp41Tyr)
|
rs1728640535
|
|
NM_001510.4(GRID2):c.1658A>G (p.Glu553Gly)
|
rs752073311
|
|
NM_001510.4(GRID2):c.2921T>A (p.Phe974Tyr)
|
|
|
NM_001510.4:c.1246-278_2193+35240del
|
|
|
NM_001510.4:c.790-271_1245+268del
|
|
|
NM_001563.4(IMPG1):c.742A>C (p.Lys248Gln)
|
|
|
NM_001605.3(AARS1):c.141C>A (p.Asn47Lys)
|
|
|
NM_001605.3(AARS1):c.161T>C (p.Leu54Pro)
|
rs2152167069
|
|
NM_001605.3(AARS1):c.1786C>T (p.Pro596Ser)
|
rs780249378
|
|
NM_001605.3(AARS1):c.2248C>T (p.Arg750Trp)
|
rs751300562
|
|
NM_001605.3(AARS1):c.232G>T (p.Ala78Ser)
|
|
|
NM_001605.3(AARS1):c.241A>G (p.Lys81Glu)
|
rs2152167014
|
|
NM_001605.3(AARS1):c.287C>T (p.Thr96Ile)
|
|
|
NM_001605.3(AARS1):c.74A>G (p.Tyr25Cys)
|
rs1300927114
|
|
NM_001605.3(AARS1):c.86C>T (p.Ser29Phe)
|
rs2152170413
|
|
NM_001605.3(AARS1):c.887G>A (p.Arg296Gln)
|
|
|
NM_001605.3(AARS1):c.989G>A (p.Arg330Gln)
|
|
|
NM_001608.4(ACADL):c.*621G>A
|
rs886055550
|
|
NM_001608.4(ACADL):c.24dup (p.Ser9fs)
|
rs764706552
|
|
NM_001608.4(ACADL):c.722G>C (p.Gly241Ala)
|
rs146511220
|
|
NM_001608.4(ACADL):c.928_933delinsCATGAATGTTATGTTT (p.Thr310fs)
|
rs1559636157
|
|
NM_001609.3(ACADSB):c.-102G>C
|
rs886046775
|
|
NM_001609.3(ACADSB):c.-109A>T
|
rs1283333224
|
|
NM_001609.3(ACADSB):c.-28G>T
|
rs895185970
|
|
NM_001609.4(ACADSB):c.*1195C>A
|
rs886046787
|
|
NM_001609.4(ACADSB):c.*1380G>A
|
rs1850689161
|
|
NM_001609.4(ACADSB):c.*1543G>T
|
rs886046789
|
|
NM_001609.4(ACADSB):c.*1552A>G
|
rs1850691633
|
|
NM_001609.4(ACADSB):c.*1682T>C
|
rs886046790
|
|
NM_001609.4(ACADSB):c.*1840T>G
|
rs886046792
|
|
NM_001609.4(ACADSB):c.*195G>A
|
rs552789169
|
|
NM_001609.4(ACADSB):c.*2224A>C
|
rs192771453
|
|
NM_001609.4(ACADSB):c.*2329A>G
|
rs543916865
|
|
NM_001609.4(ACADSB):c.*2339G>A
|
rs886046796
|
|
NM_001609.4(ACADSB):c.*2686G>C
|
rs886046797
|
|
NM_001609.4(ACADSB):c.*2922G>A
|
rs184574685
|
|
NM_001609.4(ACADSB):c.*2950A>G
|
rs886046798
|
|
NM_001609.4(ACADSB):c.*3178A>C
|
rs185809458
|
|
NM_001609.4(ACADSB):c.*3340G>C
|
rs886046799
|
|
NM_001609.4(ACADSB):c.*3483T>G
|
rs886046801
|
|
NM_001609.4(ACADSB):c.*3911A>G
|
rs1589748503
|
|
NM_001609.4(ACADSB):c.*3918G>A
|
rs886046803
|
|
NM_001609.4(ACADSB):c.*3993T>A
|
rs886046805
|
|
NM_001609.4(ACADSB):c.*4324G>T
|
rs868646540
|
|
NM_001609.4(ACADSB):c.*808G>A
|
rs41299169
|
|
NM_001609.4(ACADSB):c.-19G>C
|
rs750986257
|
|
NM_001609.4(ACADSB):c.1014C>G (p.His338Gln)
|
rs57339164
|
|
NM_001609.4(ACADSB):c.1033G>A (p.Ala345Thr)
|
|
|
NM_001609.4(ACADSB):c.1062T>C (p.Ala354=)
|
rs886046780
|
|
NM_001609.4(ACADSB):c.1106T>A (p.Met369Lys)
|
|
|
NM_001609.4(ACADSB):c.1128+2_1128+3insTA
|
rs1554874107
|
|
NM_001609.4(ACADSB):c.1128+2_1128+4del
|
rs1564754575
|
|
NM_001609.4(ACADSB):c.1128+3A>G
|
rs760423996
|
|
NM_001609.4(ACADSB):c.1135G>A (p.Gly379Arg)
|
|
|
NM_001609.4(ACADSB):c.1170G>T (p.Gly390=)
|
rs886046781
|
|
NM_001609.4(ACADSB):c.1178G>T (p.Gly393Val)
|
|
|
NM_001609.4(ACADSB):c.1214G>A (p.Arg405Gln)
|
|
|
NM_001609.4(ACADSB):c.1219G>A (p.Ala407Thr)
|
rs777906899
|
|
NM_001609.4(ACADSB):c.1228+21del
|
rs11307362
|
|
NM_001609.4(ACADSB):c.1229G>T (p.Gly410Val)
|
|
|
NM_001609.4(ACADSB):c.1255A>T (p.Ile419Phe)
|
|
|
NM_001609.4(ACADSB):c.1265A>C (p.Asn422Thr)
|
rs1430062937
|
|
NM_001609.4(ACADSB):c.13G>A (p.Ala5Thr)
|
rs2133445397
|
|
NM_001609.4(ACADSB):c.202+3A>C
|
|
|
NM_001609.4(ACADSB):c.20G>T (p.Arg7Leu)
|
rs1179957829
|
|
NM_001609.4(ACADSB):c.232C>A (p.Pro78Thr)
|
|
|
NM_001609.4(ACADSB):c.334G>A (p.Gly112Arg)
|
rs1564751382
|
|
NM_001609.4(ACADSB):c.370G>A (p.Val124Met)
|
|
|
NM_001609.4(ACADSB):c.370G>C (p.Val124Leu)
|
rs375217368
|
|
NM_001609.4(ACADSB):c.421A>C (p.Ile141Leu)
|
rs753508431
|
|
NM_001609.4(ACADSB):c.429C>T (p.Asn143=)
|
rs886046777
|
|
NM_001609.4(ACADSB):c.42G>A (p.Leu14=)
|
rs745863047
|
|
NM_001609.4(ACADSB):c.42G>T (p.Leu14=)
|
rs745863047
|
|
NM_001609.4(ACADSB):c.436A>T (p.Ile146Phe)
|
|
|
NM_001609.4(ACADSB):c.496C>G (p.Leu166Val)
|
rs186081101
|
|
NM_001609.4(ACADSB):c.541G>A (p.Ala181Thr)
|
|
|
NM_001609.4(ACADSB):c.542C>T (p.Ala181Val)
|
|
|
NM_001609.4(ACADSB):c.544G>T (p.Gly182Cys)
|
rs886046778
|
|
NM_001609.4(ACADSB):c.640G>A (p.Ala214Thr)
|
|
|
NM_001609.4(ACADSB):c.640G>T (p.Ala214Ser)
|
rs145529589
|
|
NM_001609.4(ACADSB):c.682-7T>C
|
rs886046779
|
|
NM_001609.4(ACADSB):c.710T>C (p.Val237Ala)
|
|
|
NM_001609.4(ACADSB):c.736A>G (p.Ile246Val)
|
|
|
NM_001609.4(ACADSB):c.785C>T (p.Pro262Leu)
|
|
|
NM_001609.4(ACADSB):c.795C>G (p.Phe265Leu)
|
|
|
NM_001609.4(ACADSB):c.79A>G (p.Lys27Glu)
|
|
|
NM_001609.4(ACADSB):c.803T>C (p.Val268Ala)
|
rs2133483475
|
|
NM_001609.4(ACADSB):c.8G>A (p.Gly3Asp)
|
|
|
NM_001609.4(ACADSB):c.8G>C (p.Gly3Ala)
|
|
|
NM_001609.4(ACADSB):c.958A>T (p.Ile320Leu)
|
rs1554873785
|
|
NM_001690.4(ATP6V1A):c.1227-6A>G
|
rs1709148623
|
|
NM_001690.4(ATP6V1A):c.1531G>C (p.Val511Leu)
|
rs1709239976
|
|
NM_001698.2(AUH):c.-30C>G
|
rs1057515677
|
|
NM_001698.3(AUH):c.*175G>A
|
rs1826691653
|
|
NM_001698.3(AUH):c.*259_*262del
|
rs377176126
|
|
NM_001698.3(AUH):c.*60G>A
|
rs1564001076
|
|
NM_001698.3(AUH):c.107T>C (p.Leu36Pro)
|
|
|
NM_001698.3(AUH):c.10G>A (p.Ala4Thr)
|
|
|
NM_001698.3(AUH):c.156G>C (p.Gln52His)
|
|
|
NM_001698.3(AUH):c.197G>C (p.Gly66Ala)
|
|
|
NM_001698.3(AUH):c.197G>T (p.Gly66Val)
|
rs1323577454
|
|
NM_001698.3(AUH):c.1A>G (p.Met1Val)
|
|
|
NM_001698.3(AUH):c.204C>G (p.Ser68Arg)
|
|
|
NM_001698.3(AUH):c.20C>A (p.Ala7Glu)
|
|
|
NM_001698.3(AUH):c.211A>C (p.Met71Leu)
|
rs756127206
|
|
NM_001698.3(AUH):c.215_217dup (p.Lys72_Thr73insLys)
|
|
|
NM_001698.3(AUH):c.232C>T (p.Arg78Trp)
|
|
|
NM_001698.3(AUH):c.23C>T (p.Ala8Val)
|
|
|
NM_001698.3(AUH):c.243C>G (p.His81Gln)
|
rs372245304
|
|
NM_001698.3(AUH):c.261A>T (p.Arg87=)
|
rs2132125368
|
|
NM_001698.3(AUH):c.262+8G>A
|
|
|
NM_001698.3(AUH):c.263-5_263-2del
|
rs752149463
|
|
NM_001698.3(AUH):c.268_282del (p.Val90_Ile94del)
|
rs2132084310
|
|
NM_001698.3(AUH):c.304T>A (p.Ser102Thr)
|
rs1554721818
|
|
NM_001698.3(AUH):c.331-20T>A
|
|
|
NM_001698.3(AUH):c.341C>G (p.Ala114Gly)
|
|
|
NM_001698.3(AUH):c.350C>T (p.Ala117Val)
|
rs1832379274
|
|
NM_001698.3(AUH):c.382A>G (p.Ile128Val)
|
|
|
NM_001698.3(AUH):c.385A>G (p.Ile129Val)
|
rs1423043030
|
|
NM_001698.3(AUH):c.385A>T (p.Ile129Phe)
|
rs1423043030
|
|
NM_001698.3(AUH):c.408A>G (p.Ile136Met)
|
|
|
NM_001698.3(AUH):c.40T>C (p.Ser14Pro)
|
rs1482564472
|
|
NM_001698.3(AUH):c.419-5T>G
|
|
|
NM_001698.3(AUH):c.419G>A (p.Gly140Asp)
|
rs1829899485
|
|
NM_001698.3(AUH):c.419G>T (p.Gly140Val)
|
|
|
NM_001698.3(AUH):c.430A>G (p.Lys144Glu)
|
rs2131861010
|
|
NM_001698.3(AUH):c.434A>C (p.Glu145Ala)
|
rs2131860995
|
|
NM_001698.3(AUH):c.445A>G (p.Met149Val)
|
|
|
NM_001698.3(AUH):c.44T>A (p.Leu15Gln)
|
rs757419657
|
|
NM_001698.3(AUH):c.466C>T (p.Pro156Ser)
|
|
|
NM_001698.3(AUH):c.467C>G (p.Pro156Arg)
|
|
|
NM_001698.3(AUH):c.47A>G (p.His16Arg)
|
|
|
NM_001698.3(AUH):c.498C>G (p.Asn166Lys)
|
|
|
NM_001698.3(AUH):c.499G>A (p.Asp167Asn)
|
rs776409546
|
|
NM_001698.3(AUH):c.526A>G (p.Ile176Val)
|
|
|
NM_001698.3(AUH):c.578C>T (p.Ala193Val)
|
rs2131662764
|
|
NM_001698.3(AUH):c.623T>C (p.Val208Ala)
|
rs1050057219
|
|
NM_001698.3(AUH):c.655+3A>T
|
|
|
NM_001698.3(AUH):c.656G>C (p.Gly219Ala)
|
rs1827104191
|
|
NM_001698.3(AUH):c.658G>C (p.Gly220Arg)
|
|
|
NM_001698.3(AUH):c.677G>A (p.Arg226His)
|
|
|
NM_001698.3(AUH):c.690G>A (p.Met230Ile)
|
rs1403383788
|
|
NM_001698.3(AUH):c.713T>C (p.Phe238Ser)
|
rs1587621572
|
|
NM_001698.3(AUH):c.736A>G (p.Lys246Glu)
|
rs2131215718
|
|
NM_001698.3(AUH):c.740A>C (p.Glu247Ala)
|
|
|
NM_001698.3(AUH):c.742G>A (p.Ala248Thr)
|
rs755299132
|
|
NM_001698.3(AUH):c.780G>C (p.Gln260His)
|
|
|
NM_001698.3(AUH):c.809A>G (p.Lys270Arg)
|
|
|
NM_001698.3(AUH):c.833T>C (p.Phe278Ser)
|
rs1398261487
|
|
NM_001698.3(AUH):c.856A>G (p.Met286Val)
|
rs776767438
|
|
NM_001698.3(AUH):c.942+4dup
|
rs1554688047
|
|
NM_001698.3(AUH):c.951A>T (p.Pro317=)
|
rs530710210
|
|
NM_001698.3(AUH):c.973C>G (p.Leu325Val)
|
|
|
NM_001698.3(AUH):c.980C>G (p.Ala327Gly)
|
|
|
NM_001698.3(AUH):c.997C>A (p.Pro333Thr)
|
|
|
NM_001739.2(CA5A):c.149C>A (p.Pro50Gln)
|
|
|
NM_001739.2(CA5A):c.185C>T (p.Thr62Ile)
|
|
|
NM_001739.2(CA5A):c.187C>T (p.Arg63Trp)
|
|
|
NM_001739.2(CA5A):c.283A>G (p.Ile95Val)
|
|
|
NM_001739.2(CA5A):c.298T>A (p.Tyr100Asn)
|
rs1295048155
|
|
NM_001739.2(CA5A):c.322G>A (p.Asp108Asn)
|
|
|
NM_001739.2(CA5A):c.376C>G (p.Leu126Val)
|
rs2143963929
|
|
NM_001739.2(CA5A):c.387T>G (p.Phe129Leu)
|
|
|
NM_001739.2(CA5A):c.404C>T (p.Ala135Val)
|
|
|
NM_001739.2(CA5A):c.497A>G (p.Asn166Ser)
|
|
|
NM_001739.2(CA5A):c.508G>T (p.Ala170Ser)
|
|
|
NM_001739.2(CA5A):c.512T>C (p.Val171Ala)
|
rs2143950598
|
|
NM_001739.2(CA5A):c.514G>A (p.Val172Met)
|
|
|
NM_001739.2(CA5A):c.514G>T (p.Val172Leu)
|
rs142182110
|
|
NM_001739.2(CA5A):c.523A>G (p.Asn175Asp)
|
|
|
NM_001739.2(CA5A):c.556C>G (p.Leu186Val)
|
rs375321548
|
|
NM_001739.2(CA5A):c.595A>T (p.Ile199Phe)
|
rs769123644
|
|
NM_001739.2(CA5A):c.601C>A (p.Pro201Thr)
|
|
|
NM_001739.2(CA5A):c.636G>A (p.Met212Ile)
|
|
|
NM_001739.2(CA5A):c.643T>A (p.Phe215Ile)
|
|
|
NM_001739.2(CA5A):c.646G>A (p.Asp216Asn)
|
rs370816330
|
|
NM_001739.2(CA5A):c.647A>C (p.Asp216Ala)
|
|
|
NM_001739.2(CA5A):c.664C>T (p.Pro222Ser)
|
|
|
NM_001739.2(CA5A):c.676G>A (p.Asp226Asn)
|
rs1280675833
|
|
NM_001739.2(CA5A):c.710C>T (p.Pro237Leu)
|
|
|
NM_001739.2(CA5A):c.734G>A (p.Trp245Ter)
|
|
|
NM_001739.2(CA5A):c.744G>T (p.Gln248His)
|
rs1240080247
|
|
NM_001739.2(CA5A):c.767_774+13del
|
rs762768981
|
|
NM_001739.2(CA5A):c.774G>C (p.Gln258His)
|
|
|
NM_001739.2(CA5A):c.77G>A (p.Arg26His)
|
|
|
NM_001739.2(CA5A):c.782C>T (p.Ala261Val)
|
|
|
NM_001739.2(CA5A):c.787C>T (p.Arg263Cys)
|
|
|
NM_001739.2(CA5A):c.83T>A (p.Met28Lys)
|
|
|
NM_001739.2(CA5A):c.847_848delinsGA (p.Pro283Glu)
|
rs2143888447
|
|
NM_001739.2(CA5A):c.868C>T (p.Arg290Trp)
|
|
|
NM_001739.2(CA5A):c.89C>G (p.Pro30Arg)
|
rs533233634
|
|
NM_001739.2(CA5A):c.917A>G (p.Ter306Trp)
|
|
|
NM_001844.5(COL2A1):c.2162T>C (p.Leu721Pro)
|
|
|
NM_001875.5(CPS1):c.*1040C>T
|
rs886055562
|
|
NM_001875.5(CPS1):c.*1068G>T
|
rs886055563
|
|
NM_001875.5(CPS1):c.*311A>G
|
rs886055558
|
|
NM_001875.5(CPS1):c.*387C>T
|
rs886055559
|
|
NM_001875.5(CPS1):c.*5G>A
|
rs886055556
|
|
NM_001875.5(CPS1):c.*747A>G
|
rs1701612032
|
|
NM_001875.5(CPS1):c.*74T>C
|
rs886055557
|
|
NM_001875.5(CPS1):c.*777A>G
|
rs886055561
|
|
NM_001875.5(CPS1):c.-3delinsTTCC
|
rs1553507151
|
|
NM_001875.5(CPS1):c.1000G>A (p.Ala334Thr)
|
rs2106111068
|
|
NM_001875.5(CPS1):c.1013G>A (p.Gly338Asp)
|
|
|
NM_001875.5(CPS1):c.1016A>G (p.Tyr339Cys)
|
|
|
NM_001875.5(CPS1):c.1018G>A (p.Ala340Thr)
|
|
|
NM_001875.5(CPS1):c.1025ACA[1] (p.Asn343del)
|
rs1553511264
|
|
NM_001875.5(CPS1):c.1031C>G (p.Thr344Ser)
|
rs113394579
|
|
NM_001875.5(CPS1):c.104G>A (p.Gly35Asp)
|
rs1574520391
|
|
NM_001875.5(CPS1):c.1100A>C (p.Glu367Ala)
|
|
|
NM_001875.5(CPS1):c.1109C>G (p.Pro370Arg)
|
rs149107897
|
|
NM_001875.5(CPS1):c.1139T>C (p.Val380Ala)
|
rs2106113219
|
|
NM_001875.5(CPS1):c.1142C>A (p.Thr381Asn)
|
|
|
NM_001875.5(CPS1):c.1150C>A (p.Pro384Thr)
|
rs2106113248
|
|
NM_001875.5(CPS1):c.1164+3A>G
|
|
|
NM_001875.5(CPS1):c.1164+5G>A
|
|
|
NM_001875.5(CPS1):c.1165-12A>G
|
rs1574566498
|
|
NM_001875.5(CPS1):c.1196A>G (p.Lys399Arg)
|
|
|
NM_001875.5(CPS1):c.1199A>C (p.Lys400Thr)
|
|
|
NM_001875.5(CPS1):c.1264-3T>C
|
|
|
NM_001875.5(CPS1):c.1294G>A (p.Gly432Ser)
|
|
|
NM_001875.5(CPS1):c.1295G>A (p.Gly432Asp)
|
|
|
NM_001875.5(CPS1):c.1299G>C (p.Leu433=)
|
rs1698454990
|
|
NM_001875.5(CPS1):c.1307G>A (p.Gly436Asp)
|
rs1553511785
|
|
NM_001875.5(CPS1):c.1312G>A (p.Ala438Thr)
|
rs772497399
|
|
NM_001875.5(CPS1):c.1315G>A (p.Gly439Arg)
|
rs2106118268
|
|
NM_001875.5(CPS1):c.1328A>C (p.Tyr443Ser)
|
|
|
NM_001875.5(CPS1):c.1355T>C (p.Met452Thr)
|
rs1553511794
|
|
NM_001875.5(CPS1):c.1378G>C (p.Val460Leu)
|
|
|
NM_001875.5(CPS1):c.1400C>A (p.Ala467Glu)
|
|
|
NM_001875.5(CPS1):c.1436C>T (p.Ala479Val)
|
|
|
NM_001875.5(CPS1):c.1520G>A (p.Gly507Asp)
|
rs1255335680
|
|
NM_001875.5(CPS1):c.1523T>C (p.Met508Thr)
|
|
|
NM_001875.5(CPS1):c.1561T>C (p.Phe521Leu)
|
rs1698684090
|
|
NM_001875.5(CPS1):c.1562T>G (p.Phe521Cys)
|
rs2105840290
|
|
NM_001875.5(CPS1):c.1584A>T (p.Glu528Asp)
|
|
|
NM_001875.5(CPS1):c.15G>C (p.Leu5Phe)
|
rs1696924953
|
|
NM_001875.5(CPS1):c.1648T>C (p.Phe550Leu)
|
rs1016767752
|
|
NM_001875.5(CPS1):c.1670T>C (p.Ile557Thr)
|
|
|
NM_001875.5(CPS1):c.1692T>A (p.Ser564Arg)
|
|
|
NM_001875.5(CPS1):c.1706C>T (p.Ser569Leu)
|
|
|
NM_001875.5(CPS1):c.1707+3A>G
|
rs754232832
|
|
NM_001875.5(CPS1):c.1707G>A (p.Ser569=)
|
|
|
NM_001875.5(CPS1):c.1708-7T>A
|
|
|
NM_001875.5(CPS1):c.1721T>G (p.Leu574Arg)
|
rs1698750285
|
|
NM_001875.5(CPS1):c.1727C>A (p.Ala576Glu)
|
rs1698750847
|
|
NM_001875.5(CPS1):c.1730C>T (p.Ala577Val)
|
rs1559099882
|
|
NM_001875.5(CPS1):c.1747C>T (p.Pro583Ser)
|
|
|
NM_001875.5(CPS1):c.1754T>C (p.Met585Thr)
|
rs1698751783
|
|
NM_001875.5(CPS1):c.1776G>C (p.Leu592=)
|
rs995238182
|
|
NM_001875.5(CPS1):c.1846A>G (p.Met616Val)
|
|
|
NM_001875.5(CPS1):c.1862T>C (p.Leu621Pro)
|
rs2105847240
|
|
NM_001875.5(CPS1):c.1864G>A (p.Val622Met)
|
rs1553512962
|
|
NM_001875.5(CPS1):c.1895T>G (p.Ile632Arg)
|
rs1553512974
|
|
NM_001875.5(CPS1):c.1905A>T (p.Glu635Asp)
|
rs1698862176
|
|
NM_001875.5(CPS1):c.1910T>C (p.Val637Ala)
|
|
|
NM_001875.5(CPS1):c.1913G>A (p.Arg638Gln)
|
|
|
NM_001875.5(CPS1):c.1937C>G (p.Thr646Ser)
|
|
|
NM_001875.5(CPS1):c.1949T>C (p.Met650Thr)
|
rs1698865403
|
|
NM_001875.5(CPS1):c.194C>T (p.Ser65Phe)
|
|
|
NM_001875.5(CPS1):c.1970G>A (p.Gly657Asp)
|
|
|
NM_001875.5(CPS1):c.1982-1G>C
|
rs1559102636
|
|
NM_001875.5(CPS1):c.1982-8A>T
|
rs563304664
|
|
NM_001875.5(CPS1):c.1982G>A (p.Gly661Asp)
|
rs2105849848
|
|
NM_001875.5(CPS1):c.2011A>G (p.Thr671Ala)
|
rs1698926726
|
|
NM_001875.5(CPS1):c.2022T>A (p.Asn674Lys)
|
|
|
NM_001875.5(CPS1):c.2033A>G (p.Gln678Arg)
|
|
|
NM_001875.5(CPS1):c.2048C>G (p.Thr683Ser)
|
rs753106342
|
|
NM_001875.5(CPS1):c.2083G>A (p.Gly695Ser)
|
|
|
NM_001875.5(CPS1):c.2131T>C (p.Cys711Arg)
|
rs1244823608
|
|
NM_001875.5(CPS1):c.2134A>G (p.Ile712Val)
|
|
|
NM_001875.5(CPS1):c.2143G>T (p.Val715Leu)
|
rs551261693
|
|
NM_001875.5(CPS1):c.2153G>A (p.Arg718Lys)
|
rs1559102901
|
|
NM_001875.5(CPS1):c.2186C>T (p.Ala729Val)
|
rs1698935242
|
|
NM_001875.5(CPS1):c.2192G>A (p.Gly731Asp)
|
|
|
NM_001875.5(CPS1):c.2200T>A (p.Leu734Met)
|
rs1297131870
|
|
NM_001875.5(CPS1):c.221A>G (p.Asn74Ser)
|
|
|
NM_001875.5(CPS1):c.2233A>C (p.Ile745Leu)
|
|
|
NM_001875.5(CPS1):c.2260G>A (p.Val754Ile)
|
|
|
NM_001875.5(CPS1):c.2266G>A (p.Gly756Arg)
|
|
|
NM_001875.5(CPS1):c.2324G>A (p.Arg775His)
|
rs766970243
|
|
NM_001875.5(CPS1):c.236+5G>A
|
rs1553509024
|
|
NM_001875.5(CPS1):c.2381G>T (p.Ser794Ile)
|
rs1247456569
|
|
NM_001875.5(CPS1):c.2391G>T (p.Glu797Asp)
|
rs1181945940
|
|
NM_001875.5(CPS1):c.2407C>T (p.Arg803Cys)
|
rs201716417
|
|
NM_001875.5(CPS1):c.2415T>G (p.Phe805Leu)
|
rs1553513861
|
|
NM_001875.5(CPS1):c.2440C>T (p.Arg814Trp)
|
rs772782772
|
|
NM_001875.5(CPS1):c.2446T>C (p.Cys816Arg)
|
rs1553513870
|
|
NM_001875.5(CPS1):c.2453C>T (p.Pro818Leu)
|
|
|
NM_001875.5(CPS1):c.2474C>T (p.Pro825Leu)
|
rs1376614988
|
|
NM_001875.5(CPS1):c.2475C>T (p.Pro825=)
|
rs751784059
|
|
NM_001875.5(CPS1):c.2485A>G (p.Met829Val)
|
|
|
NM_001875.5(CPS1):c.2515C>T (p.Leu839Phe)
|
|
|
NM_001875.5(CPS1):c.2537C>T (p.Pro846Leu)
|
rs1486364626
|
|
NM_001875.5(CPS1):c.254C>A (p.Thr85Asn)
|
rs770250368
|
|
NM_001875.5(CPS1):c.2568+10T>C
|
rs1304867658
|
|
NM_001875.5(CPS1):c.2573T>C (p.Ile858Thr)
|
|
|
NM_001875.5(CPS1):c.2579ACA[1] (p.Asn861del)
|
rs763006780
|
|
NM_001875.5(CPS1):c.2588C>T (p.Ser863Phe)
|
|
|
NM_001875.5(CPS1):c.2659A>G (p.Met887Val)
|
|
|
NM_001875.5(CPS1):c.2659A>T (p.Met887Leu)
|
rs1699312076
|
|
NM_001875.5(CPS1):c.2688-12A>G
|
rs376699772
|
|
NM_001875.5(CPS1):c.2693C>A (p.Ser898Tyr)
|
rs1700079203
|
|
NM_001875.5(CPS1):c.2720C>A (p.Ala907Glu)
|
rs1700081346
|
|
NM_001875.5(CPS1):c.2749A>G (p.Ile917Val)
|
rs886055552
|
|
NM_001875.5(CPS1):c.2764G>A (p.Gly922Arg)
|
|
|
NM_001875.5(CPS1):c.2771C>T (p.Thr924Ile)
|
rs150463750
|
|
NM_001875.5(CPS1):c.281T>G (p.Leu94Arg)
|
rs1697713175
|
|
NM_001875.5(CPS1):c.2829+6G>A
|
|
|
NM_001875.5(CPS1):c.2884T>C (p.Tyr962His)
|
rs1700131234
|
|
NM_001875.5(CPS1):c.2896-3del
|
|
|
NM_001875.5(CPS1):c.2932G>T (p.Val978Leu)
|
rs779342929
|
|
NM_001875.5(CPS1):c.2959+1del
|
rs1559121934
|
|
NM_001875.5(CPS1):c.2959+5A>G
|
rs745778375
|
|
NM_001875.5(CPS1):c.2959+8_2959+14del
|
rs765645129
|
|
NM_001875.5(CPS1):c.2959G>T (p.Gly987Cys)
|
rs1553516443
|
|
NM_001875.5(CPS1):c.2975T>C (p.Phe992Ser)
|
|
|
NM_001875.5(CPS1):c.2982G>C (p.Trp994Cys)
|
rs1700257191
|
|
NM_001875.5(CPS1):c.2993C>T (p.Ser998Phe)
|
rs1404696893
|
|
NM_001875.5(CPS1):c.3010C>T (p.Arg1004Cys)
|
|
|
NM_001875.5(CPS1):c.301A>G (p.Ile101Val)
|
|
|
NM_001875.5(CPS1):c.303T>G (p.Ile101Met)
|
rs1559084624
|
|
NM_001875.5(CPS1):c.3062G>A (p.Ser1021Asn)
|
rs2105901649
|
|
NM_001875.5(CPS1):c.3069C>G (p.Asp1023Glu)
|
rs1559123272
|
|
NM_001875.5(CPS1):c.3112G>C (p.Glu1038Gln)
|
rs1700263629
|
|
NM_001875.5(CPS1):c.3141+15del
|
rs577707531
|
|
NM_001875.5(CPS1):c.3151G>A (p.Gly1051Ser)
|
rs2105907837
|
|
NM_001875.5(CPS1):c.3173G>C (p.Gly1058Ala)
|
rs1700429133
|
|
NM_001875.5(CPS1):c.317C>T (p.Ala106Val)
|
rs765026487
|
|
NM_001875.5(CPS1):c.319C>T (p.Pro107Ser)
|
|
|
NM_001875.5(CPS1):c.3230G>A (p.Gly1077Asp)
|
|
|
NM_001875.5(CPS1):c.3237C>G (p.Ser1079Arg)
|
rs889511224
|
|
NM_001875.5(CPS1):c.3250G>A (p.Asp1084Asn)
|
rs777363145
|
|
NM_001875.5(CPS1):c.3262G>A (p.Asp1088Asn)
|
|
|
NM_001875.5(CPS1):c.3313C>T (p.Pro1105Ser)
|
rs761921978
|
|
NM_001875.5(CPS1):c.3316T>C (p.Trp1106Arg)
|
rs1653256261
|
|
NM_001875.5(CPS1):c.3335T>C (p.Leu1112Ser)
|
|
|
NM_001875.5(CPS1):c.3336+5G>A
|
|
|
NM_001875.5(CPS1):c.3336G>A (p.Leu1112=)
|
rs772400341
|
|
NM_001875.5(CPS1):c.3428T>C (p.Phe1143Ser)
|
rs1700522933
|
|
NM_001875.5(CPS1):c.3439G>A (p.Glu1147Lys)
|
rs1414071158
|
|
NM_001875.5(CPS1):c.3442A>T (p.Met1148Leu)
|
|
|
NM_001875.5(CPS1):c.3443T>A (p.Met1148Lys)
|
rs1553517387
|
|
NM_001875.5(CPS1):c.347G>A (p.Gly116Glu)
|
|
|
NM_001875.5(CPS1):c.3480+5T>C
|
rs1700524730
|
|
NM_001875.5(CPS1):c.3481-7G>C
|
rs368909569
|
|
NM_001875.5(CPS1):c.349C>T (p.Leu117Phe)
|
rs2106079743
|
|
NM_001875.5(CPS1):c.3500C>A (p.Thr1167Lys)
|
|
|
NM_001875.5(CPS1):c.3503A>T (p.Lys1168Ile)
|
|
|
NM_001875.5(CPS1):c.3523G>C (p.Glu1175Gln)
|
|
|
NM_001875.5(CPS1):c.3558+8C>T
|
rs1700638481
|
|
NM_001875.5(CPS1):c.3568C>T (p.His1190Tyr)
|
|
|
NM_001875.5(CPS1):c.3596C>A (p.Ala1199Glu)
|
rs751372173
|
|
NM_001875.5(CPS1):c.3608C>T (p.Ser1203Leu)
|
rs149518280
|
|
NM_001875.5(CPS1):c.3623T>A (p.Leu1208Gln)
|
rs2105917916
|
|
NM_001875.5(CPS1):c.3666+4A>G
|
|
|
NM_001875.5(CPS1):c.3666+6_3666+8del
|
rs1219499475
|
|
NM_001875.5(CPS1):c.3688A>G (p.Ile1230Val)
|
rs1700803697
|
|
NM_001875.5(CPS1):c.3736G>A (p.Val1246Ile)
|
rs753784617
|
|
NM_001875.5(CPS1):c.3742G>A (p.Gly1248Arg)
|
|
|
NM_001875.5(CPS1):c.3756+3A>G
|
rs777990487
|
|
NM_001875.5(CPS1):c.3812T>C (p.Leu1271Pro)
|
|
|
NM_001875.5(CPS1):c.3857A>T (p.Glu1286Val)
|
rs886055554
|
|
NM_001875.5(CPS1):c.3874C>T (p.His1292Tyr)
|
rs886055555
|
|
NM_001875.5(CPS1):c.3927+5C>A
|
|
|
NM_001875.5(CPS1):c.3934A>C (p.Met1312Leu)
|
|
|
NM_001875.5(CPS1):c.3941C>T (p.Ser1314Phe)
|
|
|
NM_001875.5(CPS1):c.3949C>T (p.Arg1317Trp)
|
|
|
NM_001875.5(CPS1):c.3952T>G (p.Leu1318Val)
|
rs769593170
|
|
NM_001875.5(CPS1):c.4018G>A (p.Glu1340Lys)
|
rs2105933010
|
|
NM_001875.5(CPS1):c.4034C>G (p.Ala1345Gly)
|
rs1701168860
|
|
NM_001875.5(CPS1):c.4046C>G (p.Ala1349Gly)
|
rs1701169191
|
|
NM_001875.5(CPS1):c.407A>G (p.Tyr136Cys)
|
|
|
NM_001875.5(CPS1):c.4090A>G (p.Ile1364Val)
|
|
|
NM_001875.5(CPS1):c.4094G>A (p.Gly1365Asp)
|
rs1701172255
|
|
NM_001875.5(CPS1):c.4101G>A (p.Gln1367=)
|
|
|
NM_001875.5(CPS1):c.4102-1G>C
|
|
|
NM_001875.5(CPS1):c.4106C>T (p.Ser1369Leu)
|
|
|
NM_001875.5(CPS1):c.4109T>C (p.Phe1370Ser)
|
|
|
NM_001875.5(CPS1):c.410G>T (p.Ser137Ile)
|
rs2106081662
|
|
NM_001875.5(CPS1):c.411T>A (p.Ser137Arg)
|
|
|
NM_001875.5(CPS1):c.412A>C (p.Lys138Gln)
|
|
|
NM_001875.5(CPS1):c.4161G>A (p.Lys1387=)
|
|
|
NM_001875.5(CPS1):c.4162-3C>T
|
|
|
NM_001875.5(CPS1):c.4220C>T (p.Pro1407Leu)
|
|
|
NM_001875.5(CPS1):c.422A>G (p.Asn141Ser)
|
|
|
NM_001875.5(CPS1):c.4231C>T (p.Pro1411Ser)
|
|
|
NM_001875.5(CPS1):c.4232C>T (p.Pro1411Leu)
|
rs1202306773
|
|
NM_001875.5(CPS1):c.4237C>G (p.Gln1413Glu)
|
|
|
NM_001875.5(CPS1):c.4252C>G (p.Pro1418Ala)
|
|
|
NM_001875.5(CPS1):c.4283G>C (p.Arg1428Thr)
|
|
|
NM_001875.5(CPS1):c.4325A>G (p.Asn1442Ser)
|
|
|
NM_001875.5(CPS1):c.4364C>T (p.Thr1455Ile)
|
|
|
NM_001875.5(CPS1):c.4373A>T (p.Asp1458Val)
|
rs1701560653
|
|
NM_001875.5(CPS1):c.4382T>A (p.Ile1461Asn)
|
rs1559142189
|
|
NM_001875.5(CPS1):c.4388T>C (p.Leu1463Pro)
|
|
|
NM_001875.5(CPS1):c.4401T>G (p.Phe1467Leu)
|
rs2105946163
|
|
NM_001875.5(CPS1):c.4412A>T (p.Lys1471Ile)
|
rs762221038
|
|
NM_001875.5(CPS1):c.442A>G (p.Ser148Gly)
|
|
|
NM_001875.5(CPS1):c.442A>T (p.Ser148Cys)
|
|
|
NM_001875.5(CPS1):c.4441C>T (p.Arg1481Cys)
|
|
|
NM_001875.5(CPS1):c.4442G>C (p.Arg1481Pro)
|
|
|
NM_001875.5(CPS1):c.4457A>G (p.Lys1486Arg)
|
|
|
NM_001875.5(CPS1):c.4463T>C (p.Leu1488Pro)
|
|
|
NM_001875.5(CPS1):c.4469A>G (p.His1490Arg)
|
rs2105947140
|
|
NM_001875.5(CPS1):c.4471T>C (p.Tyr1491His)
|
rs1553519513
|
|
NM_001875.5(CPS1):c.4478A>C (p.Gln1493Pro)
|
rs2105947164
|
|
NM_001875.5(CPS1):c.4501T>G (p.Ter1501Glu)
|
rs762494955
|
|
NM_001875.5(CPS1):c.504G>T (p.Met168Ile)
|
rs1194500413
|
|
NM_001875.5(CPS1):c.520C>T (p.Arg174Trp)
|
rs1553509661
|
|
NM_001875.5(CPS1):c.521G>A (p.Arg174Gln)
|
|
|
NM_001875.5(CPS1):c.528G>A (p.Lys176=)
|
rs1559086441
|
|
NM_001875.5(CPS1):c.549T>G (p.Ile183Met)
|
|
|
NM_001875.5(CPS1):c.563A>G (p.Gln188Arg)
|
|
|
NM_001875.5(CPS1):c.593A>C (p.Gln198Pro)
|
rs1376851408
|
|
NM_001875.5(CPS1):c.616A>T (p.Thr206Ser)
|
|
|
NM_001875.5(CPS1):c.622-3C>T
|
rs1574557868
|
|
NM_001875.5(CPS1):c.677G>T (p.Gly226Val)
|
rs2106103911
|
|
NM_001875.5(CPS1):c.737C>T (p.Pro246Leu)
|
rs2106107599
|
|
NM_001875.5(CPS1):c.74C>A (p.Ala25Glu)
|
|
|
NM_001875.5(CPS1):c.74C>T (p.Ala25Val)
|
rs149570645
|
|
NM_001875.5(CPS1):c.762G>A (p.Met254Ile)
|
|
|
NM_001875.5(CPS1):c.773G>C (p.Gly258Ala)
|
rs778299777
|
|
NM_001875.5(CPS1):c.793C>A (p.Pro265Thr)
|
rs2106107745
|
|
NM_001875.5(CPS1):c.840+6A>G
|
rs1477495553
|
|
NM_001875.5(CPS1):c.840_840+5dup
|
rs1273243029
|
|
NM_001875.5(CPS1):c.891C>A (p.Asn297Lys)
|
rs1698268978
|
|
NM_001875.5(CPS1):c.895A>G (p.Ile299Val)
|
rs2106108999
|
|
NM_001875.5(CPS1):c.914G>T (p.Gly305Val)
|
|
|
NM_001875.5(CPS1):c.945C>G (p.Asn315Lys)
|
rs761974037
|
|
NM_001875.5(CPS1):c.952C>A (p.Gln318Lys)
|
|
|
NM_001875.5(CPS1):c.972T>G (p.Asn324Lys)
|
|
|
NM_001876.4(CPT1A):c.-6C>A
|
rs561418145
|
|
NM_001876.4(CPT1A):c.100T>C (p.Ser34Pro)
|
rs398123653
|
|
NM_001876.4(CPT1A):c.1018G>A (p.Gly340Arg)
|
rs2153998408
|
|
NM_001876.4(CPT1A):c.1033G>A (p.Val345Ile)
|
|
|
NM_001876.4(CPT1A):c.1046A>G (p.His349Arg)
|
|
|
NM_001876.4(CPT1A):c.1070G>A (p.Arg357Gln)
|
|
|
NM_001876.4(CPT1A):c.1077G>A (p.Met359Ile)
|
rs1432015707
|
|
NM_001876.4(CPT1A):c.1153G>A (p.Ala385Thr)
|
|
|
NM_001876.4(CPT1A):c.1160A>T (p.Asp387Val)
|
|
|
NM_001876.4(CPT1A):c.1163+4C>T
|
|
|
NM_001876.4(CPT1A):c.1163+5G>T
|
|
|
NM_001876.4(CPT1A):c.1165G>A (p.Val389Ile)
|
|
|
NM_001876.4(CPT1A):c.1183C>T (p.Arg395Cys)
|
rs1451283997
|
|
NM_001876.4(CPT1A):c.1192T>C (p.Tyr398His)
|
rs2153997934
|
|
NM_001876.4(CPT1A):c.1201C>T (p.Arg401Cys)
|
|
|
NM_001876.4(CPT1A):c.1252G>A (p.Val418Met)
|
|
|
NM_001876.4(CPT1A):c.1271AAG[1] (p.Glu425del)
|
rs747376723
|
|
NM_001876.4(CPT1A):c.1301C>T (p.Thr434Met)
|
|
|
NM_001876.4(CPT1A):c.1325C>A (p.Ser442Tyr)
|
rs2153997915
|
|
NM_001876.4(CPT1A):c.1367C>T (p.Ser456Leu)
|
rs1478167106
|
|
NM_001876.4(CPT1A):c.1386C>A (p.Phe462Leu)
|
rs2153997779
|
|
NM_001876.4(CPT1A):c.1405C>T (p.Leu469Phe)
|
rs1315026195
|
|
NM_001876.4(CPT1A):c.141+6C>G
|
rs1856354034
|
|
NM_001876.4(CPT1A):c.1433C>T (p.Ala478Val)
|
rs2153997775
|
|
NM_001876.4(CPT1A):c.1441G>A (p.Val481Met)
|
|
|
NM_001876.4(CPT1A):c.1459T>G (p.Tyr487Asp)
|
rs985269276
|
|
NM_001876.4(CPT1A):c.1471A>G (p.Ile491Val)
|
|
|
NM_001876.4(CPT1A):c.1474G>C (p.Asp492His)
|
|
|
NM_001876.4(CPT1A):c.1485G>T (p.Gln495His)
|
|
|
NM_001876.4(CPT1A):c.1493A>G (p.Tyr498Cys)
|
rs80356791
|
|
NM_001876.4(CPT1A):c.1528C>A (p.Pro510Thr)
|
|
|
NM_001876.4(CPT1A):c.1528C>G (p.Pro510Ala)
|
|
|
NM_001876.4(CPT1A):c.1528C>T (p.Pro510Ser)
|
rs1279443212
|
|
NM_001876.4(CPT1A):c.1534A>G (p.Ile512Val)
|
|
|
NM_001876.4(CPT1A):c.1538C>T (p.Pro513Leu)
|
|
|
NM_001876.4(CPT1A):c.1567C>G (p.Pro523Ala)
|
rs1855114160
|
|
NM_001876.4(CPT1A):c.1568C>G (p.Pro523Arg)
|
|
|
NM_001876.4(CPT1A):c.1568C>T (p.Pro523Leu)
|
|
|
NM_001876.4(CPT1A):c.1575+517_1575+521dup
|
rs1169875761
|
|
NM_001876.4(CPT1A):c.1575A>G (p.Glu525=)
|
|
|
NM_001876.4(CPT1A):c.1595C>A (p.Thr532Asn)
|
|
|
NM_001876.4(CPT1A):c.1597T>C (p.Ser533Pro)
|
rs1855050882
|
|
NM_001876.4(CPT1A):c.1600C>G (p.Leu534Val)
|
|
|
NM_001876.4(CPT1A):c.160G>A (p.Val54Met)
|
rs147389938
|
|
NM_001876.4(CPT1A):c.160G>T (p.Val54Leu)
|
rs147389938
|
|
NM_001876.4(CPT1A):c.1630G>A (p.Val544Met)
|
rs2153996787
|
|
NM_001876.4(CPT1A):c.163T>C (p.Tyr55His)
|
|
|
NM_001876.4(CPT1A):c.1653C>T (p.Phe551=)
|
rs1314725177
|
|
NM_001876.4(CPT1A):c.1658C>T (p.Ala553Val)
|
rs2153996784
|
|
NM_001876.4(CPT1A):c.1664G>A (p.Gly555Asp)
|
rs1566348991
|
|
NM_001876.4(CPT1A):c.1675A>G (p.Ile559Val)
|
rs1413070376
|
|
NM_001876.4(CPT1A):c.1685G>C (p.Cys562Ser)
|
|
|
NM_001876.4(CPT1A):c.1688G>A (p.Arg563His)
|
|
|
NM_001876.4(CPT1A):c.1688G>T (p.Arg563Leu)
|
|
|
NM_001876.4(CPT1A):c.1694G>T (p.Ser565Ile)
|
rs200826577
|
|
NM_001876.4(CPT1A):c.1704C>T (p.Ala568=)
|
rs1855045353
|
|
NM_001876.4(CPT1A):c.1745T>G (p.Met582Arg)
|
rs369312504
|
|
NM_001876.4(CPT1A):c.1768G>A (p.Glu590Lys)
|
|
|
NM_001876.4(CPT1A):c.1775C>T (p.Ser592Phe)
|
|
|
NM_001876.4(CPT1A):c.1784G>A (p.Arg595Gln)
|
|
|
NM_001876.4(CPT1A):c.1793G>A (p.Arg598Gln)
|
rs878856345
|
|
NM_001876.4(CPT1A):c.1799G>C (p.Gly600Ala)
|
rs1173933704
|
|
NM_001876.4(CPT1A):c.1817G>A (p.Arg606His)
|
|
|
NM_001876.4(CPT1A):c.1875+5T>C
|
|
|
NM_001876.4(CPT1A):c.1901A>G (p.Lys634Arg)
|
rs1854622463
|
|
NM_001876.4(CPT1A):c.1907C>T (p.Ala636Val)
|
rs775438656
|
|
NM_001876.4(CPT1A):c.1909T>G (p.Ser637Ala)
|
|
|
NM_001876.4(CPT1A):c.1912G>A (p.Glu638Lys)
|
rs1854621732
|
|
NM_001876.4(CPT1A):c.1939G>A (p.Ala647Thr)
|
|
|
NM_001876.4(CPT1A):c.193G>A (p.Val65Met)
|
|
|
NM_001876.4(CPT1A):c.194TGG[2] (p.Val67del)
|
rs1555232255
|
|
NM_001876.4(CPT1A):c.1958T>C (p.Ile653Thr)
|
|
|
NM_001876.4(CPT1A):c.1960G>A (p.Asp654Asn)
|
rs1417413074
|
|
NM_001876.4(CPT1A):c.1963C>G (p.Arg655Gly)
|
|
|
NM_001876.4(CPT1A):c.1963C>T (p.Arg655Cys)
|
|
|
NM_001876.4(CPT1A):c.1967A>G (p.His656Arg)
|
rs1261847888
|
|
NM_001876.4(CPT1A):c.1970T>C (p.Leu657Pro)
|
rs1854618343
|
|
NM_001876.4(CPT1A):c.1984G>A (p.Val662Met)
|
|
|
NM_001876.4(CPT1A):c.2005G>T (p.Val669Leu)
|
rs2153994987
|
|
NM_001876.4(CPT1A):c.2013C>A (p.Ser671=)
|
rs755323437
|
|
NM_001876.4(CPT1A):c.2029-3T>C
|
|
|
NM_001876.4(CPT1A):c.2084A>G (p.Glu695Gly)
|
rs1264713147
|
|
NM_001876.4(CPT1A):c.2090T>C (p.Phe697Ser)
|
rs2153994789
|
|
NM_001876.4(CPT1A):c.2099A>G (p.Glu700Gly)
|
|
|
NM_001876.4(CPT1A):c.2107C>A (p.Pro703Thr)
|
|
|
NM_001876.4(CPT1A):c.2108C>T (p.Pro703Leu)
|
|
|
NM_001876.4(CPT1A):c.211A>G (p.Thr71Ala)
|
|
|
NM_001876.4(CPT1A):c.2122A>G (p.Ser708Gly)
|
|
|
NM_001876.4(CPT1A):c.2124C>A (p.Ser708Arg)
|
rs773748237
|
|
NM_001876.4(CPT1A):c.2125G>A (p.Gly709Arg)
|
|
|
NM_001876.4(CPT1A):c.2138G>T (p.Gly713Val)
|
|
|
NM_001876.4(CPT1A):c.2142+6T>C
|
rs777779540
|
|
NM_001876.4(CPT1A):c.2149G>A (p.Asp717Asn)
|
|
|
NM_001876.4(CPT1A):c.2197A>G (p.Asn733Asp)
|
|
|
NM_001876.4(CPT1A):c.221_241del (p.Tyr74_Ser80del)
|
rs1856241184
|
|
NM_001876.4(CPT1A):c.2235+9G>A
|
rs1946761066
|
|
NM_001876.4(CPT1A):c.2236-1G>A
|
rs1555226004
|
|
NM_001876.4(CPT1A):c.2236G>T (p.Asp746Tyr)
|
|
|
NM_001876.4(CPT1A):c.2238T>G (p.Asp746Glu)
|
rs2153994514
|
|
NM_001876.4(CPT1A):c.223G>A (p.Ala75Thr)
|
|
|
NM_001876.4(CPT1A):c.2260C>A (p.Leu754Met)
|
|
|
NM_001876.4(CPT1A):c.2284A>G (p.Ile762Val)
|
|
|
NM_001876.4(CPT1A):c.2293T>C (p.Phe765Leu)
|
rs1946717191
|
|
NM_001876.4(CPT1A):c.2309A>G (p.Asn770Ser)
|
|
|
NM_001876.4(CPT1A):c.239C>T (p.Ser80Leu)
|
|
|
NM_001876.4(CPT1A):c.244G>A (p.Gly82Arg)
|
rs2154001160
|
|
NM_001876.4(CPT1A):c.251T>C (p.Ile84Thr)
|
|
|
NM_001876.4(CPT1A):c.277A>C (p.Thr93Pro)
|
rs2154001156
|
|
NM_001876.4(CPT1A):c.278C>T (p.Thr93Met)
|
|
|
NM_001876.4(CPT1A):c.281C>T (p.Ala94Val)
|
|
|
NM_001876.4(CPT1A):c.289A>G (p.Met97Val)
|
|
|
NM_001876.4(CPT1A):c.290T>C (p.Met97Thr)
|
|
|
NM_001876.4(CPT1A):c.304A>C (p.Lys102Gln)
|
|
|
NM_001876.4(CPT1A):c.310G>A (p.Val104Met)
|
|
|
NM_001876.4(CPT1A):c.398A>C (p.His133Pro)
|
rs2154000819
|
|
NM_001876.4(CPT1A):c.400G>A (p.Gly134Arg)
|
|
|
NM_001876.4(CPT1A):c.418C>T (p.His140Tyr)
|
|
|
NM_001876.4(CPT1A):c.433C>G (p.Arg145Gly)
|
|
|
NM_001876.4(CPT1A):c.433C>T (p.Arg145Cys)
|
rs763241992
|
|
NM_001876.4(CPT1A):c.446T>C (p.Ile149Thr)
|
|
|
NM_001876.4(CPT1A):c.457A>G (p.Met153Val)
|
|
|
NM_001876.4(CPT1A):c.459G>A (p.Met153Ile)
|
|
|
NM_001876.4(CPT1A):c.479G>A (p.Arg160Gln)
|
|
|
NM_001876.4(CPT1A):c.47C>T (p.Pro16Leu)
|
rs747575697
|
|
NM_001876.4(CPT1A):c.491T>C (p.Leu164Ser)
|
rs2154000557
|
|
NM_001876.4(CPT1A):c.530C>T (p.Pro177Leu)
|
|
|
NM_001876.4(CPT1A):c.535G>A (p.Val179Ile)
|
rs542856213
|
|
NM_001876.4(CPT1A):c.555+6T>C
|
|
|
NM_001876.4(CPT1A):c.602G>A (p.Arg201Gln)
|
|
|
NM_001876.4(CPT1A):c.620A>G (p.Gln207Arg)
|
rs1855839019
|
|
NM_001876.4(CPT1A):c.647G>A (p.Arg216Lys)
|
rs955789237
|
|
NM_001876.4(CPT1A):c.683C>G (p.Ala228Gly)
|
|
|
NM_001876.4(CPT1A):c.693+1G>A
|
rs1055176086
|
|
NM_001876.4(CPT1A):c.74A>G (p.His25Arg)
|
|
|
NM_001876.4(CPT1A):c.772G>T (p.Asp258Tyr)
|
|
|
NM_001876.4(CPT1A):c.811A>G (p.Arg271Gly)
|
|
|
NM_001876.4(CPT1A):c.814G>A (p.Ala272Thr)
|
|
|
NM_001876.4(CPT1A):c.817G>A (p.Gly273Ser)
|
|
|
NM_001876.4(CPT1A):c.841C>G (p.Leu281Val)
|
|
|
NM_001876.4(CPT1A):c.851G>T (p.Arg284Leu)
|
|
|
NM_001876.4(CPT1A):c.862C>T (p.Arg288Trp)
|
|
|
NM_001876.4(CPT1A):c.879A>G (p.Pro293=)
|
|
|
NM_001876.4(CPT1A):c.884G>A (p.Arg295His)
|
|
|
NM_001876.4(CPT1A):c.892G>A (p.Gly298Arg)
|
|
|
NM_001876.4(CPT1A):c.896C>G (p.Ser299Cys)
|
|
|
NM_001876.4(CPT1A):c.899C>T (p.Thr300Met)
|
|
|
NM_001876.4(CPT1A):c.917C>T (p.Ala306Val)
|
|
|
NM_001876.4(CPT1A):c.927G>T (p.Glu309Asp)
|
|
|
NM_001876.4(CPT1A):c.928C>T (p.Arg310Trp)
|
|
|
NM_001876.4(CPT1A):c.931A>G (p.Met311Val)
|
|
|
NM_001876.4(CPT1A):c.937A>G (p.Asn313Asp)
|
rs2153999597
|
|
NM_001876.4(CPT1A):c.968-3C>G
|
rs1594337667
|
|
NM_001876.4(CPT1A):c.986G>A (p.Arg329Lys)
|
|
|
NM_001876.4(CPT1A):c.991A>G (p.Ser331Gly)
|
|
|
NM_001902.6(CTH):c.*336A>G
|
rs1357205916
|
|
NM_001902.6(CTH):c.*411G>C
|
rs1684675526
|
|
NM_001902.6(CTH):c.*522_*523insTAA
|
rs886046514
|
|
NM_001902.6(CTH):c.*527A>T
|
rs886046515
|
|
NM_001902.6(CTH):c.*587G>A
|
rs886046517
|
|
NM_001902.6(CTH):c.*588C>T
|
rs932421469
|
|
NM_001902.6(CTH):c.*98G>A
|
rs886046512
|
|
NM_001902.6(CTH):c.-3A>G
|
rs757363405
|
|
NM_001902.6(CTH):c.1052+1G>C
|
rs570239863
|
|
NM_001902.6(CTH):c.381A>G (p.Glu127=)
|
rs886046511
|
|
NM_001902.6(CTH):c.710G>T (p.Arg237Leu)
|
rs147044875
|
|
NM_001902.6(CTH):c.794G>T (p.Arg265Leu)
|
rs200263768
|
|
NM_001918.5(DBT):c.*1064del
|
rs553113077
|
|
NM_001918.5(DBT):c.*1064dup
|
rs553113077
|
|
NM_001918.5(DBT):c.*1640C>T
|
rs1660988947
|
|
NM_001918.5(DBT):c.*2021C>T
|
rs1660952850
|
|
NM_001918.5(DBT):c.*2114T>C
|
rs886044956
|
|
NM_001918.5(DBT):c.*2130G>A
|
rs1394399367
|
|
NM_001918.5(DBT):c.*2213T>C
|
rs1660939902
|
|
NM_001918.5(DBT):c.*2363G>T
|
rs886044955
|
|
NM_001918.5(DBT):c.*2542del
|
rs570425342
|
|
NM_001918.5(DBT):c.*2633AAAT[5]
|
rs773873766
|
|
NM_001918.5(DBT):c.*3022G>A
|
rs1660889107
|
|
NM_001918.5(DBT):c.*3027A>G
|
rs886044954
|
|
NM_001918.5(DBT):c.*3201G>A
|
rs886044951
|
|
NM_001918.5(DBT):c.*3240T>A
|
rs1660880039
|
|
NM_001918.5(DBT):c.*3693C>G
|
rs1660860600
|
|
NM_001918.5(DBT):c.*3859T>C
|
rs1570793211
|
|
NM_001918.5(DBT):c.*3995G>T
|
rs988697898
|
|
NM_001918.5(DBT):c.*4237A>C
|
rs1660837776
|
|
NM_001918.5(DBT):c.*4281del
|
rs886044948
|
|
NM_001918.5(DBT):c.*4321G>T
|
rs886044947
|
|
NM_001918.5(DBT):c.*4446C>G
|
rs752398323
|
|
NM_001918.5(DBT):c.*456C>G
|
rs886044963
|
|
NM_001918.5(DBT):c.*4576G>A
|
rs531886164
|
|
NM_001918.5(DBT):c.*4576G>C
|
rs531886164
|
|
NM_001918.5(DBT):c.*4688G>T
|
rs573460625
|
|
NM_001918.5(DBT):c.*5380G>C
|
rs1660776922
|
|
NM_001918.5(DBT):c.*5561A>G
|
rs886044945
|
|
NM_001918.5(DBT):c.*5959A>G
|
rs567706972
|
|
NM_001918.5(DBT):c.*6114_*6115del
|
rs3081711
|
|
NM_001918.5(DBT):c.*6413C>T
|
rs1660732127
|
|
NM_001918.5(DBT):c.*64A>G
|
rs1661077106
|
|
NM_001918.5(DBT):c.*6771A>C
|
rs986607367
|
|
NM_001918.5(DBT):c.*6771A>G
|
rs986607367
|
|
NM_001918.5(DBT):c.*678TTAA[1]
|
rs886044961
|
|
NM_001918.5(DBT):c.*6903del
|
rs71709231
|
|
NM_001918.5(DBT):c.*7223C>T
|
rs1660695055
|
|
NM_001918.5(DBT):c.*7690T>C
|
rs535852086
|
|
NM_001918.5(DBT):c.*7942G>A
|
rs1660663776
|
|
NM_001918.5(DBT):c.*8471T>C
|
rs1660634228
|
|
NM_001918.5(DBT):c.*8552_*8553insT
|
rs886044939
|
|
NM_001918.5(DBT):c.*8554dup
|
rs886044938
|
|
NM_001918.5(DBT):c.*8642C>G
|
rs886044937
|
|
NM_001918.5(DBT):c.*8900A>T
|
rs886044936
|
|
NM_001918.5(DBT):c.*9058C>T
|
rs886044935
|
|
NM_001918.5(DBT):c.1002G>T (p.Gln334His)
|
|
|
NM_001918.5(DBT):c.1061T>C (p.Leu354Ser)
|
rs1296308942
|
|
NM_001918.5(DBT):c.1126C>T (p.Arg376Cys)
|
rs768389398
|
|
NM_001918.5(DBT):c.1170T>G (p.Asp390Glu)
|
rs1661798658
|
|
NM_001918.5(DBT):c.1190C>T (p.Thr397Ile)
|
rs1570806466
|
|
NM_001918.5(DBT):c.1195T>G (p.Ser399Ala)
|
rs1553229654
|
|
NM_001918.5(DBT):c.1210-10dup
|
rs398123658
|
|
NM_001918.5(DBT):c.1210-3T>A
|
|
|
NM_001918.5(DBT):c.1212T>G (p.Ile404Met)
|
rs2100779467
|
|
NM_001918.5(DBT):c.1219A>G (p.Thr407Ala)
|
|
|
NM_001918.5(DBT):c.1230A>C (p.Lys410Asn)
|
|
|
NM_001918.5(DBT):c.1251A>G (p.Glu417=)
|
|
|
NM_001918.5(DBT):c.1264G>A (p.Ala422Thr)
|
|
|
NM_001918.5(DBT):c.1276A>G (p.Ile426Val)
|
rs1471693880
|
|
NM_001918.5(DBT):c.1282-14_1282-10del
|
rs752915898
|
|
NM_001918.5(DBT):c.1282-5_1282-1del
|
rs1557939353
|
|
NM_001918.5(DBT):c.1283C>T (p.Ala428Val)
|
rs2100761237
|
|
NM_001918.5(DBT):c.1309G>A (p.Glu437Lys)
|
rs772490888
|
|
NM_001918.5(DBT):c.1343G>A (p.Trp448Ter)
|
rs749366506
|
|
NM_001918.5(DBT):c.1348G>A (p.Ala450Thr)
|
rs398123661
|
|
NM_001918.5(DBT):c.1364T>C (p.Ile455Thr)
|
rs1570796358
|
|
NM_001918.5(DBT):c.1372G>T (p.Ala458Ser)
|
|
|
NM_001918.5(DBT):c.1375A>G (p.Thr459Ala)
|
|
|
NM_001918.5(DBT):c.1382C>A (p.Ser461Ter)
|
rs1553228626
|
|
NM_001918.5(DBT):c.1389C>T (p.Phe463=)
|
rs886044964
|
|
NM_001918.5(DBT):c.1394A>G (p.Asn465Ser)
|
|
|
NM_001918.5(DBT):c.1420C>A (p.Pro474Thr)
|
|
|
NM_001918.5(DBT):c.14G>A (p.Arg5His)
|
|
|
NM_001918.5(DBT):c.165AAC[1] (p.Thr57del)
|
rs771945254
|
|
NM_001918.5(DBT):c.16A>G (p.Met6Val)
|
|
|
NM_001918.5(DBT):c.181C>T (p.Arg61Cys)
|
|
|
NM_001918.5(DBT):c.182G>A (p.Arg61His)
|
|
|
NM_001918.5(DBT):c.215T>C (p.Ile72Thr)
|
rs565879664
|
|
NM_001918.5(DBT):c.230G>A (p.Arg77Lys)
|
|
|
NM_001918.5(DBT):c.260AAG[1] (p.Glu88del)
|
rs1217050849
|
|
NM_001918.5(DBT):c.292A>G (p.Ile98Val)
|
|
|
NM_001918.5(DBT):c.296G>A (p.Cys99Tyr)
|
rs1557956678
|
|
NM_001918.5(DBT):c.367_372del (p.Tyr123_Asn124del)
|
rs1557956585
|
|
NM_001918.5(DBT):c.36G>C (p.Arg12Ser)
|
|
|
NM_001918.5(DBT):c.391G>A (p.Val131Met)
|
rs1663510723
|
|
NM_001918.5(DBT):c.398A>T (p.Lys133Met)
|
|
|
NM_001918.5(DBT):c.433+6G>A
|
|
|
NM_001918.5(DBT):c.433+8A>G
|
|
|
NM_001918.5(DBT):c.438AGA[2] (p.Glu148del)
|
rs761922057
|
|
NM_001918.5(DBT):c.449TTG[1] (p.Val151del)
|
rs773087765
|
|
NM_001918.5(DBT):c.451G>A (p.Val151Ile)
|
rs1282153768
|
|
NM_001918.5(DBT):c.45G>T (p.Gly15=)
|
|
|
NM_001918.5(DBT):c.475G>A (p.Asp159Asn)
|
|
|
NM_001918.5(DBT):c.479A>C (p.Glu160Ala)
|
|
|
NM_001918.5(DBT):c.4G>A (p.Ala2Thr)
|
rs760664814
|
|
NM_001918.5(DBT):c.500A>C (p.Lys167Thr)
|
|
|
NM_001918.5(DBT):c.51+1G>C
|
|
|
NM_001918.5(DBT):c.512C>T (p.Thr171Ile)
|
|
|
NM_001918.5(DBT):c.533G>A (p.Arg178His)
|
|
|
NM_001918.5(DBT):c.538C>G (p.Leu180Val)
|
rs2100804291
|
|
NM_001918.5(DBT):c.577G>A (p.Gly193Ser)
|
rs398123671
|
|
NM_001918.5(DBT):c.595A>G (p.Arg199Gly)
|
rs2100799976
|
|
NM_001918.5(DBT):c.667G>A (p.Val223Ile)
|
|
|
NM_001918.5(DBT):c.668T>G (p.Val223Gly)
|
rs772801811
|
|
NM_001918.5(DBT):c.676A>G (p.Met226Val)
|
|
|
NM_001918.5(DBT):c.709G>C (p.Val237Leu)
|
rs947272551
|
|
NM_001918.5(DBT):c.715A>C (p.Ile239Leu)
|
|
|
NM_001918.5(DBT):c.787A>G (p.Met263Val)
|
rs753685282
|
|
NM_001918.5(DBT):c.788T>C (p.Met263Thr)
|
rs1553230703
|
|
NM_001918.5(DBT):c.82_84dup (p.Asn28dup)
|
rs746916491
|
|
NM_001918.5(DBT):c.853A>C (p.Thr285Pro)
|
rs1662391542
|
|
NM_001918.5(DBT):c.86T>C (p.Val29Ala)
|
rs1473273369
|
|
NM_001918.5(DBT):c.872G>T (p.Arg291Leu)
|
rs775808731
|
|
NM_001918.5(DBT):c.883A>C (p.Lys295Gln)
|
rs1158505606
|
|
NM_001918.5(DBT):c.899C>T (p.Ala300Val)
|
|
|
NM_001918.5(DBT):c.913C>T (p.Leu305Phe)
|
|
|
NM_001918.5(DBT):c.916T>C (p.Ser306Pro)
|
rs2100797134
|
|
NM_001918.5(DBT):c.932T>C (p.Phe311Ser)
|
rs1662388035
|
|
NM_001918.5(DBT):c.940G>T (p.Ala314Ser)
|
|
|
NM_001918.5(DBT):c.962A>T (p.Gln321Leu)
|
rs758048048
|
|
NM_001918.5(DBT):c.963G>C (p.Gln321His)
|
|
|
NM_001918.5(DBT):c.967_975dup (p.Pro323_Leu325dup)
|
rs1557946237
|
|
NM_001918.5(DBT):c.979G>A (p.Ala327Thr)
|
|
|
NM_001918.5(DBT):c.991G>A (p.Glu331Lys)
|
rs2100788336
|
|
NM_001918.5(DBT):c.995A>G (p.Asn332Ser)
|
|
|
NM_001958.5(EEF1A2):c.1001C>T (p.Pro334Leu)
|
rs574384755
|
|
NM_001958.5(EEF1A2):c.1029+3G>A
|
rs111392970
|
|
NM_001958.5(EEF1A2):c.1029+3G>C
|
rs111392970
|
|
NM_001958.5(EEF1A2):c.1129_1131del (p.Glu377del)
|
rs2082366421
|
|
NM_001958.5(EEF1A2):c.1141C>T (p.Arg381Trp)
|
rs1568994522
|
|
NM_001958.5(EEF1A2):c.1145G>C (p.Arg382Pro)
|
|
|
NM_001958.5(EEF1A2):c.115A>T (p.Ile39Phe)
|
|
|
NM_001958.5(EEF1A2):c.1165G>A (p.Asp389Asn)
|
rs1568994517
|
|
NM_001958.5(EEF1A2):c.1169A>G (p.Asn390Ser)
|
rs2145938775
|
|
NM_001958.5(EEF1A2):c.1180C>G (p.Leu394Val)
|
|
|
NM_001958.5(EEF1A2):c.1190G>A (p.Gly397Glu)
|
rs2145938753
|
|
NM_001958.5(EEF1A2):c.1196C>A (p.Ala399Glu)
|
rs2082366097
|
|
NM_001958.5(EEF1A2):c.1263C>A (p.Leu421=)
|
|
|
NM_001958.5(EEF1A2):c.1264+6C>T
|
rs2082365851
|
|
NM_001958.5(EEF1A2):c.1268_1269delinsAA (p.Arg423Gln)
|
|
|
NM_001958.5(EEF1A2):c.1285A>G (p.Met429Val)
|
|
|
NM_001958.5(EEF1A2):c.1286T>G (p.Met429Arg)
|
|
|
NM_001958.5(EEF1A2):c.1309G>A (p.Val437Ile)
|
rs1057521655
|
|
NM_001958.5(EEF1A2):c.1316A>G (p.Lys439Arg)
|
rs1286655873
|
|
NM_001958.5(EEF1A2):c.1328A>G (p.Lys443Arg)
|
|
|
NM_001958.5(EEF1A2):c.1335C>A (p.Ser445Arg)
|
rs372257864
|
|
NM_001958.5(EEF1A2):c.1345G>A (p.Gly449Ser)
|
rs2082362096
|
|
NM_001958.5(EEF1A2):c.1351G>A (p.Val451Ile)
|
|
|
NM_001958.5(EEF1A2):c.1366CAGAAGGCG[1] (p.456QKA[1])
|
rs879255373
|
|
NM_001958.5(EEF1A2):c.1369A>G (p.Lys457Glu)
|
|
|
NM_001958.5(EEF1A2):c.137C>T (p.Ala46Val)
|
rs1555883973
|
|
NM_001958.5(EEF1A2):c.145-19_145-7dup
|
|
|
NM_001958.5(EEF1A2):c.145-3C>T
|
|
|
NM_001958.5(EEF1A2):c.145-8C>G
|
rs554786640
|
|
NM_001958.5(EEF1A2):c.169G>A (p.Ala57Thr)
|
|
|
NM_001958.5(EEF1A2):c.194C>T (p.Ala65Val)
|
rs1238718880
|
|
NM_001958.5(EEF1A2):c.206G>A (p.Arg69His)
|
|
|
NM_001958.5(EEF1A2):c.214A>G (p.Thr72Ala)
|
|
|
NM_001958.5(EEF1A2):c.237G>T (p.Lys79Asn)
|
|
|
NM_001958.5(EEF1A2):c.271G>T (p.Asp91Tyr)
|
|
|
NM_001958.5(EEF1A2):c.289G>A (p.Asp97Asn)
|
rs2145945425
|
|
NM_001958.5(EEF1A2):c.305T>C (p.Met102Thr)
|
rs2082414008
|
|
NM_001958.5(EEF1A2):c.324+2T>G
|
|
|
NM_001958.5(EEF1A2):c.324+5G>A
|
rs762973465
|
|
NM_001958.5(EEF1A2):c.324+5dup
|
rs1555883860
|
|
NM_001958.5(EEF1A2):c.325-6G>A
|
|
|
NM_001958.5(EEF1A2):c.326C>T (p.Ala109Val)
|
|
|
NM_001958.5(EEF1A2):c.327G>A (p.Ala109=)
|
|
|
NM_001958.5(EEF1A2):c.334G>A (p.Ala112Thr)
|
rs2145944978
|
|
NM_001958.5(EEF1A2):c.344T>C (p.Ile115Thr)
|
|
|
NM_001958.5(EEF1A2):c.346G>A (p.Val116Met)
|
|
|
NM_001958.5(EEF1A2):c.346G>T (p.Val116Leu)
|
|
|
NM_001958.5(EEF1A2):c.353C>T (p.Ala118Val)
|
|
|
NM_001958.5(EEF1A2):c.356G>A (p.Gly119Asp)
|
rs2145944958
|
|
NM_001958.5(EEF1A2):c.369C>A (p.Phe123Leu)
|
|
|
NM_001958.5(EEF1A2):c.400C>T (p.Arg134Trp)
|
rs1448765509
|
|
NM_001958.5(EEF1A2):c.401G>A (p.Arg134Gln)
|
|
|
NM_001958.5(EEF1A2):c.403G>C (p.Glu135Gln)
|
rs2145944903
|
|
NM_001958.5(EEF1A2):c.40G>A (p.Gly14Ser)
|
rs750037735
|
|
NM_001958.5(EEF1A2):c.442C>A (p.Leu148Ile)
|
|
|
NM_001958.5(EEF1A2):c.448G>A (p.Val150Met)
|
|
|
NM_001958.5(EEF1A2):c.452G>A (p.Gly151Asp)
|
rs2082410204
|
|
NM_001958.5(EEF1A2):c.453C>T (p.Gly151=)
|
rs764827474
|
|
NM_001958.5(EEF1A2):c.475G>T (p.Glu159Ter)
|
|
|
NM_001958.5(EEF1A2):c.480_481delinsAA (p.Ala161Thr)
|
rs1600907762
|
|
NM_001958.5(EEF1A2):c.487A>G (p.Ser163Gly)
|
rs1000703611
|
|
NM_001958.5(EEF1A2):c.489C>G (p.Ser163Arg)
|
|
|
NM_001958.5(EEF1A2):c.490G>A (p.Glu164Lys)
|
rs2145944822
|
|
NM_001958.5(EEF1A2):c.496C>T (p.Arg166Cys)
|
|
|
NM_001958.5(EEF1A2):c.497G>A (p.Arg166His)
|
|
|
NM_001958.5(EEF1A2):c.49G>C (p.Asp17His)
|
rs2082424804
|
|
NM_001958.5(EEF1A2):c.506A>G (p.Glu169Gly)
|
rs2082409745
|
|
NM_001958.5(EEF1A2):c.511G>A (p.Val171Ile)
|
|
|
NM_001958.5(EEF1A2):c.515A>G (p.Lys172Arg)
|
|
|
NM_001958.5(EEF1A2):c.524_525delinsAG (p.Ser175Lys)
|
|
|
NM_001958.5(EEF1A2):c.532A>G (p.Ile178Val)
|
|
|
NM_001958.5(EEF1A2):c.532A>T (p.Ile178Phe)
|
rs765056369
|
|
NM_001958.5(EEF1A2):c.536A>G (p.Lys179Arg)
|
rs2082409506
|
|
NM_001958.5(EEF1A2):c.543C>G (p.Ile181Met)
|
rs1057115359
|
|
NM_001958.5(EEF1A2):c.562G>A (p.Val188Met)
|
|
|
NM_001958.5(EEF1A2):c.571G>A (p.Val191Met)
|
rs1600907642
|
|
NM_001958.5(EEF1A2):c.577A>G (p.Ile193Val)
|
|
|
NM_001958.5(EEF1A2):c.583G>A (p.Gly195Ser)
|
|
|
NM_001958.5(EEF1A2):c.620A>G (p.Asn207Ser)
|
rs1184871645
|
|
NM_001958.5(EEF1A2):c.622-3C>T
|
|
|
NM_001958.5(EEF1A2):c.62C>T (p.Ser21Phe)
|
|
|
NM_001958.5(EEF1A2):c.676G>A (p.Val226Met)
|
|
|
NM_001958.5(EEF1A2):c.712C>A (p.Pro238Thr)
|
rs2145943601
|
|
NM_001958.5(EEF1A2):c.716C>G (p.Thr239Arg)
|
rs993963334
|
|
NM_001958.5(EEF1A2):c.718C>T (p.Arg240Cys)
|
|
|
NM_001958.5(EEF1A2):c.719G>A (p.Arg240His)
|
rs2082399018
|
|
NM_001958.5(EEF1A2):c.71C>T (p.Thr24Met)
|
rs1064795618
|
|
NM_001958.5(EEF1A2):c.727G>A (p.Asp243Asn)
|
|
|
NM_001958.5(EEF1A2):c.737T>C (p.Leu246Pro)
|
|
|
NM_001958.5(EEF1A2):c.757G>A (p.Val253Met)
|
|
|
NM_001958.5(EEF1A2):c.764A>G (p.Lys255Arg)
|
rs2082398761
|
|
NM_001958.5(EEF1A2):c.772+5G>A
|
|
|
NM_001958.5(EEF1A2):c.772G>A (p.Gly258Ser)
|
rs2082398711
|
|
NM_001958.5(EEF1A2):c.779G>T (p.Gly260Val)
|
rs2082375053
|
|
NM_001958.5(EEF1A2):c.782C>T (p.Thr261Met)
|
rs1555883506
|
|
NM_001958.5(EEF1A2):c.796C>T (p.Arg266Trp)
|
rs1555883505
|
|
NM_001958.5(EEF1A2):c.824G>C (p.Gly275Ala)
|
|
|
NM_001958.5(EEF1A2):c.827T>C (p.Met276Thr)
|
rs2145940159
|
|
NM_001958.5(EEF1A2):c.832G>C (p.Val278Leu)
|
|
|
NM_001958.5(EEF1A2):c.889G>A (p.Glu297Lys)
|
rs1395381555
|
|
NM_001958.5(EEF1A2):c.925G>A (p.Gly309Ser)
|
rs921196267
|
|
NM_001958.5(EEF1A2):c.94G>A (p.Gly32Arg)
|
|
|
NM_001958.5(EEF1A2):c.958A>G (p.Ile320Val)
|
|
|
NM_001958.5(EEF1A2):c.961C>T (p.Arg321Trp)
|
rs1415254392
|
|
NM_001958.5(EEF1A2):c.971A>G (p.Asn324Ser)
|
rs1600903430
|
|
NM_001958.5(EEF1A2):c.998C>G (p.Pro333Arg)
|
|
|
NM_001985.3(ETFB):c.122T>C (p.Phe41Ser)
|
rs746082442
|
|
NM_001985.3(ETFB):c.14G>T (p.Arg5Leu)
|
|
|
NM_001985.3(ETFB):c.151C>G (p.Arg51Gly)
|
|
|
NM_001985.3(ETFB):c.152G>A (p.Arg51Gln)
|
|
|
NM_001985.3(ETFB):c.166A>C (p.Lys56Gln)
|
|
|
NM_001985.3(ETFB):c.186C>G (p.Ile62Met)
|
|
|
NM_001985.3(ETFB):c.190G>A (p.Val64Ile)
|
|
|
NM_001985.3(ETFB):c.22G>A (p.Val8Ile)
|
rs531136177
|
|
NM_001985.3(ETFB):c.22G>C (p.Val8Leu)
|
|
|
NM_001985.3(ETFB):c.247G>A (p.Ala83Thr)
|
rs1352787179
|
|
NM_001985.3(ETFB):c.254G>A (p.Arg85Gln)
|
|
|
NM_001985.3(ETFB):c.257G>T (p.Gly86Val)
|
|
|
NM_001985.3(ETFB):c.259A>G (p.Ile87Val)
|
rs2123587270
|
|
NM_001985.3(ETFB):c.2T>C (p.Met1Thr)
|
|
|
NM_001985.3(ETFB):c.326C>A (p.Ala109Asp)
|
|
|
NM_001985.3(ETFB):c.334G>T (p.Ala112Ser)
|
|
|
NM_001985.3(ETFB):c.343_345del (p.Glu115del)
|
|
|
NM_001985.3(ETFB):c.353A>G (p.Asp118Gly)
|
|
|
NM_001985.3(ETFB):c.358G>T (p.Val120Leu)
|
|
|
NM_001985.3(ETFB):c.375+6T>G
|
|
|
NM_001985.3(ETFB):c.395A>C (p.Asn132Thr)
|
|
|
NM_001985.3(ETFB):c.411G>A (p.Met137Ile)
|
|
|
NM_001985.3(ETFB):c.438+4A>G
|
|
|
NM_001985.3(ETFB):c.438+5G>A
|
|
|
NM_001985.3(ETFB):c.498C>G (p.Ile166Met)
|
|
|
NM_001985.3(ETFB):c.499G>A (p.Asp167Asn)
|
|
|
NM_001985.3(ETFB):c.499G>C (p.Asp167His)
|
rs140614695
|
|
NM_001985.3(ETFB):c.49G>T (p.Ala17Ser)
|
|
|
NM_001985.3(ETFB):c.520C>G (p.Arg174Gly)
|
rs755539437
|
|
NM_001985.3(ETFB):c.520C>T (p.Arg174Cys)
|
|
|
NM_001985.3(ETFB):c.52G>T (p.Val18Leu)
|
|
|
NM_001985.3(ETFB):c.53T>G (p.Val18Gly)
|
|
|
NM_001985.3(ETFB):c.58-196_58-194del
|
rs768440463
|
|
NM_001985.3(ETFB):c.58-27C>T
|
|
|
NM_001985.3(ETFB):c.58-57dup
|
rs74357706
|
|
NM_001985.3(ETFB):c.589A>G (p.Asn197Asp)
|
rs747411704
|
|
NM_001985.3(ETFB):c.598-3C>T
|
|
|
NM_001985.3(ETFB):c.605AGA[3] (p.Lys205del)
|
rs767519060
|
|
NM_001985.3(ETFB):c.611A>G (p.Lys204Arg)
|
|
|
NM_001985.3(ETFB):c.622G>A (p.Val208Met)
|
|
|
NM_001985.3(ETFB):c.62G>A (p.Arg21Gln)
|
rs369216610
|
|
NM_001985.3(ETFB):c.631C>T (p.Pro211Ser)
|
|
|
NM_001985.3(ETFB):c.632C>A (p.Pro211His)
|
rs760907327
|
|
NM_001985.3(ETFB):c.676A>T (p.Ser226Cys)
|
rs2123567525
|
|
NM_001985.3(ETFB):c.697C>T (p.Arg233Cys)
|
rs761714465
|
|
NM_001985.3(ETFB):c.706G>C (p.Gly236Arg)
|
|
|
NM_001985.3(ETFB):c.715G>A (p.Val239Met)
|
|
|
NM_001985.3(ETFB):c.760C>T (p.Arg254Trp)
|
rs370522844
|
|
NM_001985.3(ETFB):c.78G>T (p.Arg26Ser)
|
|
|
NM_001985.3(ETFB):c.82G>C (p.Gly28Arg)
|
|
|
NM_001985.3(ETFB):c.98G>A (p.Gly33Asp)
|
|
|
NM_002098.6(GUCA1B):c.*1263G>A
|
rs548960052
|
|
NM_002098.6(GUCA1B):c.*179A>T
|
rs886061397
|
|
NM_002098.6(GUCA1B):c.*205T>C
|
rs886061396
|
|
NM_002098.6(GUCA1B):c.*358A>G
|
rs1768159793
|
|
NM_002098.6(GUCA1B):c.*507C>G
|
rs546491968
|
|
NM_002098.6(GUCA1B):c.*589T>C
|
rs1768153938
|
|
NM_002098.6(GUCA1B):c.*940C>G
|
rs1768147032
|
|
NM_002098.6(GUCA1B):c.-114A>G
|
rs72854838
|
|
NM_002098.6(GUCA1B):c.260G>C (p.Arg87Thr)
|
rs911189359
|
|
NM_002098.6(GUCA1B):c.56C>T (p.Ala19Val)
|
|
|
NM_002098.6(GUCA1B):c.95G>C (p.Cys32Ser)
|
rs140794161
|
|
NM_002108.4(HAL):c.*1161C>T
|
rs368835467
|
|
NM_002108.4(HAL):c.*1178A>G
|
rs886049895
|
|
NM_002108.4(HAL):c.*1283T>C
|
rs886049894
|
|
NM_002108.4(HAL):c.*1359C>A
|
rs192416544
|
|
NM_002108.4(HAL):c.*1489A>C
|
rs886049893
|
|
NM_002108.4(HAL):c.*227A>C
|
rs886049900
|
|
NM_002108.4(HAL):c.*405_*408dup
|
rs71307533
|
|
NM_002108.4(HAL):c.*406_*408dup
|
rs71307533
|
|
NM_002108.4(HAL):c.*4G>A
|
rs1455905331
|
|
NM_002108.4(HAL):c.*603A>G
|
rs886049898
|
|
NM_002108.4(HAL):c.*673T>C
|
rs2080679383
|
|
NM_002108.4(HAL):c.*728T>A
|
rs886049897
|
|
NM_002108.4(HAL):c.-231del
|
rs886049904
|
|
NM_002108.4(HAL):c.1018G>A (p.Val340Met)
|
|
|
NM_002108.4(HAL):c.1163G>A (p.Cys388Tyr)
|
rs1949881722
|
|
NM_002108.4(HAL):c.1277C>G (p.Thr426Arg)
|
rs1565988698
|
|
NM_002108.4(HAL):c.1414G>A (p.Glu472Lys)
|
rs147706824
|
|
NM_002108.4(HAL):c.1453T>C (p.Phe485Leu)
|
rs886049901
|
|
NM_002108.4(HAL):c.1801G>A (p.Glu601Lys)
|
rs377498665
|
|
NM_002108.4(HAL):c.1823T>C (p.Leu608Pro)
|
rs2080719373
|
|
NM_002108.4(HAL):c.308+14C>T
|
rs886049902
|
|
NM_002108.4(HAL):c.421A>G (p.Thr141Ala)
|
rs200116994
|
|
NM_002108.4(HAL):c.475G>T (p.Glu159Ter)
|
rs1365129216
|
|
NM_002108.4(HAL):c.578C>G (p.Ser193Ter)
|
|
|
NM_002108.4(HAL):c.590G>C (p.Gly197Ala)
|
rs541743724
|
|
NM_002150.3(HPD):c.*190G>T
|
rs942325148
|
|
NM_002150.3(HPD):c.*69C>T
|
rs1592913492
|
|
NM_002150.3(HPD):c.*82T>C
|
rs879205776
|
|
NM_002150.3(HPD):c.1016C>G (p.Pro339Arg)
|
rs1877352949
|
|
NM_002150.3(HPD):c.104T>C (p.Phe35Ser)
|
rs1592923946
|
|
NM_002150.3(HPD):c.1061A>G (p.His354Arg)
|
rs1877351328
|
|
NM_002150.3(HPD):c.106T>C (p.Tyr36His)
|
|
|
NM_002150.3(HPD):c.1092C>A (p.Phe364Leu)
|
|
|
NM_002150.3(HPD):c.1097C>A (p.Ser366Ter)
|
rs369037617
|
|
NM_002150.3(HPD):c.109T>C (p.Cys37Arg)
|
rs1246785384
|
|
NM_002150.3(HPD):c.1120G>A (p.Glu374Lys)
|
rs1020099831
|
|
NM_002150.3(HPD):c.1121A>T (p.Glu374Val)
|
rs1877344435
|
|
NM_002150.3(HPD):c.1133G>C (p.Arg378Pro)
|
rs560715209
|
|
NM_002150.3(HPD):c.1151del (p.Met384fs)
|
rs1555339247
|
|
NM_002150.3(HPD):c.1165G>C (p.Val389Leu)
|
rs1404803313
|
|
NM_002150.3(HPD):c.211C>G (p.Leu71Val)
|
rs886049037
|
|
NM_002150.3(HPD):c.295G>C (p.Glu99Gln)
|
rs199638048
|
|
NM_002150.3(HPD):c.356_358del (p.Arg119_Glu120delinsGln)
|
rs1877932887
|
|
NM_002150.3(HPD):c.413C>T (p.Thr138Met)
|
|
|
NM_002150.3(HPD):c.415-5C>G
|
|
|
NM_002150.3(HPD):c.415T>A (p.Tyr139Asn)
|
rs1877705055
|
|
NM_002150.3(HPD):c.44G>C (p.Arg15Pro)
|
|
|
NM_002150.3(HPD):c.460G>C (p.Gly154Arg)
|
|
|
NM_002150.3(HPD):c.485C>T (p.Ala162Val)
|
rs1566570874
|
|
NM_002150.3(HPD):c.518+3G>A
|
rs1877698848
|
|
NM_002150.3(HPD):c.543C>T (p.Ile181=)
|
rs756242095
|
|
NM_002150.3(HPD):c.561C>G (p.Asn187Lys)
|
rs1438994844
|
|
NM_002150.3(HPD):c.688G>A (p.Ala230Thr)
|
rs2137616170
|
|
NM_002150.3(HPD):c.802G>A (p.Ala268Thr)
|
|
|
NM_002150.3(HPD):c.835C>G (p.Arg279Gly)
|
|
|
NM_002150.3(HPD):c.85G>A (p.Ala29Thr)
|
|
|
NM_002150.3(HPD):c.898C>T (p.Arg300Trp)
|
rs149281612
|
|
NM_002150.3(HPD):c.899G>A (p.Arg300Gln)
|
|
|
NM_002150.3(HPD):c.92A>G (p.Gln31Arg)
|
rs1878057534
|
|
NM_002150.3(HPD):c.93+3A>G
|
|
|
NM_002225.5(IVD):c.*1213A>T
|
rs886051133
|
|
NM_002225.5(IVD):c.*1245C>T
|
rs974616361
|
|
NM_002225.5(IVD):c.*1898G>A
|
rs886051134
|
|
NM_002225.5(IVD):c.*1944C>T
|
rs910131258
|
|
NM_002225.5(IVD):c.*1984G>C
|
rs969539454
|
|
NM_002225.5(IVD):c.*2125A>C
|
rs1048450160
|
|
NM_002225.5(IVD):c.*2302G>A
|
rs886051136
|
|
NM_002225.5(IVD):c.*2389C>T
|
rs1892216503
|
|
NM_002225.5(IVD):c.*2494C>G
|
rs781683880
|
|
NM_002225.5(IVD):c.*2494C>T
|
rs781683880
|
|
NM_002225.5(IVD):c.*2883T>A
|
rs181699798
|
|
NM_002225.5(IVD):c.*2960C>T
|
rs926243484
|
|
NM_002225.5(IVD):c.*3036A>C
|
rs913379191
|
|
NM_002225.5(IVD):c.*566A>G
|
rs549510775
|
|
NM_002225.5(IVD):c.*568A>T
|
rs1891996350
|
|
NM_002225.5(IVD):c.*787T>C
|
rs1892021365
|
|
NM_002225.5(IVD):c.*809G>A
|
rs886051131
|
|
NM_002225.5(IVD):c.*822G>T
|
rs373923824
|
|
NM_002225.5(IVD):c.-8T>G
|
rs566691073
|
|
NM_002225.5(IVD):c.1025A>G (p.Asn342Ser)
|
|
|
NM_002225.5(IVD):c.1065G>C (p.Lys355Asn)
|
rs910454086
|
|
NM_002225.5(IVD):c.1066-20A>G
|
|
|
NM_002225.5(IVD):c.1071T>G (p.Cys357Trp)
|
|
|
NM_002225.5(IVD):c.107A>G (p.Asp36Gly)
|
rs2141289941
|
|
NM_002225.5(IVD):c.1088A>T (p.Tyr363Phe)
|
|
|
NM_002225.5(IVD):c.1120G>A (p.Asp374Asn)
|
rs1566941619
|
|
NM_002225.5(IVD):c.1136T>C (p.Phe379Ser)
|
rs1469021843
|
|
NM_002225.5(IVD):c.1138G>C (p.Gly380Arg)
|
rs1891683650
|
|
NM_002225.5(IVD):c.1165C>A (p.Pro389Thr)
|
|
|
NM_002225.5(IVD):c.1206A>G (p.Ile402Met)
|
|
|
NM_002225.5(IVD):c.1222G>A (p.Glu408Lys)
|
rs755693286
|
|
NM_002225.5(IVD):c.1242C>G (p.Ile414Met)
|
|
|
NM_002225.5(IVD):c.125T>A (p.Leu42Gln)
|
rs121434284
|
|
NM_002225.5(IVD):c.125T>G (p.Leu42Arg)
|
rs121434284
|
|
NM_002225.5(IVD):c.129C>A (p.Ser43Arg)
|
rs918899977
|
|
NM_002225.5(IVD):c.133G>A (p.Glu45Lys)
|
rs1890355188
|
|
NM_002225.5(IVD):c.137A>G (p.Gln46Arg)
|
rs1890355492
|
|
NM_002225.5(IVD):c.142C>G (p.Gln48Glu)
|
rs771280106
|
|
NM_002225.5(IVD):c.148C>G (p.Arg50Gly)
|
rs34695403
|
|
NM_002225.5(IVD):c.179A>C (p.His60Pro)
|
|
|
NM_002225.5(IVD):c.17G>A (p.Arg6Gln)
|
rs748160492
|
|
NM_002225.5(IVD):c.215A>G (p.Asn72Ser)
|
|
|
NM_002225.5(IVD):c.229C>G (p.Leu77Val)
|
|
|
NM_002225.5(IVD):c.233G>C (p.Arg78Pro)
|
rs771929559
|
|
NM_002225.5(IVD):c.25G>T (p.Gly9Trp)
|
|
|
NM_002225.5(IVD):c.265G>A (p.Val89Ile)
|
|
|
NM_002225.5(IVD):c.272G>A (p.Gly91Asp)
|
rs1555403365
|
|
NM_002225.5(IVD):c.298G>A (p.Gly100Ser)
|
|
|
NM_002225.5(IVD):c.2T>C (p.Met1Thr)
|
|
|
NM_002225.5(IVD):c.320A>G (p.Glu107Gly)
|
rs2141323321
|
|
NM_002225.5(IVD):c.34G>A (p.Val12Met)
|
|
|
NM_002225.5(IVD):c.376T>C (p.Tyr126His)
|
|
|
NM_002225.5(IVD):c.379G>A (p.Gly127Ser)
|
|
|
NM_002225.5(IVD):c.415C>T (p.Arg139Cys)
|
rs376324882
|
|
NM_002225.5(IVD):c.417C>T (p.Arg139=)
|
|
|
NM_002225.5(IVD):c.419A>G (p.Asn140Ser)
|
|
|
NM_002225.5(IVD):c.438A>G (p.Lys146=)
|
rs1007239169
|
|
NM_002225.5(IVD):c.452C>G (p.Pro151Arg)
|
|
|
NM_002225.5(IVD):c.457-2A>G
|
rs771914739
|
|
NM_002225.5(IVD):c.457-3C>T
|
|
|
NM_002225.5(IVD):c.464GTG[3] (p.Gly156dup)
|
rs796051982
|
|
NM_002225.5(IVD):c.467G>C (p.Gly156Ala)
|
rs1221254988
|
|
NM_002225.5(IVD):c.48G>C (p.Arg16Ser)
|
|
|
NM_002225.5(IVD):c.492G>A (p.Met164Ile)
|
|
|
NM_002225.5(IVD):c.516TGT[1] (p.Val174del)
|
rs1566936030
|
|
NM_002225.5(IVD):c.521T>G (p.Val174Gly)
|
rs1891058364
|
|
NM_002225.5(IVD):c.550+6G>A
|
rs1891063818
|
|
NM_002225.5(IVD):c.59C>T (p.Pro20Leu)
|
|
|
NM_002225.5(IVD):c.607G>C (p.Asp203His)
|
rs2141331313
|
|
NM_002225.5(IVD):c.60G>T (p.Pro20=)
|
rs1482549847
|
|
NM_002225.5(IVD):c.618del (p.Ile206fs)
|
rs781630355
|
|
NM_002225.5(IVD):c.623A>G (p.Tyr208Cys)
|
|
|
NM_002225.5(IVD):c.634G>A (p.Asp212Asn)
|
|
|
NM_002225.5(IVD):c.634G>C (p.Asp212His)
|
|
|
NM_002225.5(IVD):c.641C>T (p.Ala214Val)
|
|
|
NM_002225.5(IVD):c.646G>A (p.Val216Met)
|
|
|
NM_002225.5(IVD):c.659G>A (p.Arg220Gln)
|
|
|
NM_002225.5(IVD):c.671C>A (p.Ala224Asp)
|
|
|
NM_002225.5(IVD):c.678T>G (p.Ile226Met)
|
rs1891104586
|
|
NM_002225.5(IVD):c.688G>T (p.Gly230Cys)
|
|
|
NM_002225.5(IVD):c.712AAG[1] (p.Lys239del)
|
rs1555404430
|
|
NM_002225.5(IVD):c.71T>C (p.Phe24Ser)
|
|
|
NM_002225.5(IVD):c.721G>A (p.Asp241Asn)
|
rs2141340100
|
|
NM_002225.5(IVD):c.772T>G (p.Cys258Gly)
|
rs2141340538
|
|
NM_002225.5(IVD):c.813G>A (p.Lys271=)
|
rs767825575
|
|
NM_002225.5(IVD):c.817G>A (p.Val273Ile)
|
|
|
NM_002225.5(IVD):c.821A>G (p.Tyr274Cys)
|
|
|
NM_002225.5(IVD):c.823G>A (p.Val275Met)
|
rs757832700
|
|
NM_002225.5(IVD):c.823G>C (p.Val275Leu)
|
rs757832700
|
|
NM_002225.5(IVD):c.841G>A (p.Asp281Asn)
|
|
|
NM_002225.5(IVD):c.848A>G (p.Glu283Gly)
|
rs1314850102
|
|
NM_002225.5(IVD):c.850C>T (p.Arg284Trp)
|
|
|
NM_002225.5(IVD):c.853C>G (p.Leu285Val)
|
|
|
NM_002225.5(IVD):c.856G>A (p.Val286Met)
|
|
|
NM_002225.5(IVD):c.865G>T (p.Gly289Trp)
|
rs568885234
|
|
NM_002225.5(IVD):c.870G>T (p.Gly290=)
|
rs1285915480
|
|
NM_002225.5(IVD):c.875T>C (p.Leu292Pro)
|
rs1555404843
|
|
NM_002225.5(IVD):c.880C>T (p.Leu294Phe)
|
|
|
NM_002225.5(IVD):c.881T>C (p.Leu294Pro)
|
rs1555404933
|
|
NM_002225.5(IVD):c.887A>T (p.Gln296Leu)
|
rs1595786862
|
|
NM_002225.5(IVD):c.919C>T (p.His307Tyr)
|
rs2141355545
|
|
NM_002225.5(IVD):c.995G>A (p.Arg332His)
|
|
|
NM_002225.5(IVD):c.995G>T (p.Arg332Leu)
|
rs745464766
|
|
NM_002454.3(MTRR):c.1015C>G (p.His339Asp)
|
|
|
NM_002454.3(MTRR):c.1016A>G (p.His339Arg)
|
|
|
NM_002454.3(MTRR):c.1047_1049del (p.Lys352del)
|
|
|
NM_002454.3(MTRR):c.1056A>C (p.Lys352Asn)
|
|
|
NM_002454.3(MTRR):c.1058G>A (p.Gly353Glu)
|
|
|
NM_002454.3(MTRR):c.1063A>G (p.Thr355Ala)
|
|
|
NM_002454.3(MTRR):c.106C>T (p.His36Tyr)
|
|
|
NM_002454.3(MTRR):c.1070C>T (p.Pro357Leu)
|
rs2126751184
|
|
NM_002454.3(MTRR):c.1073A>G (p.Gln358Arg)
|
rs776598893
|
|
NM_002454.3(MTRR):c.1075C>T (p.His359Tyr)
|
rs1405292334
|
|
NM_002454.3(MTRR):c.1144A>G (p.Lys382Glu)
|
|
|
NM_002454.3(MTRR):c.1146+3A>G
|
|
|
NM_002454.3(MTRR):c.1175C>T (p.Thr392Ile)
|
|
|
NM_002454.3(MTRR):c.120A>C (p.Glu40Asp)
|
|
|
NM_002454.3(MTRR):c.1253G>C (p.Arg418Pro)
|
|
|
NM_002454.3(MTRR):c.1364G>C (p.Cys455Ser)
|
rs764469824
|
|
NM_002454.3(MTRR):c.1401T>G (p.His467Gln)
|
rs1737824362
|
|
NM_002454.3(MTRR):c.1415T>C (p.Ile472Thr)
|
|
|
NM_002454.3(MTRR):c.1430C>G (p.Ser477Cys)
|
rs1737830740
|
|
NM_002454.3(MTRR):c.1438A>G (p.Thr480Ala)
|
|
|
NM_002454.3(MTRR):c.1446G>C (p.Glu482Asp)
|
rs2126793498
|
|
NM_002454.3(MTRR):c.1454G>A (p.Arg485Gln)
|
|
|
NM_002454.3(MTRR):c.1457A>G (p.Lys486Arg)
|
|
|
NM_002454.3(MTRR):c.1490T>C (p.Val497Ala)
|
rs1737849237
|
|
NM_002454.3(MTRR):c.1492G>A (p.Ala498Thr)
|
rs1737849963
|
|
NM_002454.3(MTRR):c.1493C>T (p.Ala498Val)
|
|
|
NM_002454.3(MTRR):c.1499T>G (p.Val500Gly)
|
|
|
NM_002454.3(MTRR):c.1502T>G (p.Leu501Arg)
|
rs2126793764
|
|
NM_002454.3(MTRR):c.1515A>G (p.Ile505Met)
|
|
|
NM_002454.3(MTRR):c.1520C>T (p.Ala507Val)
|
|
|
NM_002454.3(MTRR):c.1526A>G (p.His509Arg)
|
|
|
NM_002454.3(MTRR):c.1534A>C (p.Ser512Arg)
|
|
|
NM_002454.3(MTRR):c.1552C>T (p.Pro518Ser)
|
|
|
NM_002454.3(MTRR):c.1558-6T>C
|
|
|
NM_002454.3(MTRR):c.1564A>G (p.Ile522Val)
|
|
|
NM_002454.3(MTRR):c.1583A>G (p.Asn528Ser)
|
|
|
NM_002454.3(MTRR):c.1596A>T (p.Leu532Phe)
|
|
|
NM_002454.3(MTRR):c.1619T>G (p.Ile540Ser)
|
|
|
NM_002454.3(MTRR):c.1621A>G (p.Ile541Val)
|
rs752471011
|
|
NM_002454.3(MTRR):c.1628T>A (p.Val543Glu)
|
|
|
NM_002454.3(MTRR):c.1642G>A (p.Gly548Ser)
|
rs1738413262
|
|
NM_002454.3(MTRR):c.1670A>G (p.Gln557Arg)
|
|
|
NM_002454.3(MTRR):c.1682A>G (p.Lys561Arg)
|
|
|
NM_002454.3(MTRR):c.1717G>A (p.Ala573Thr)
|
rs1738616151
|
|
NM_002454.3(MTRR):c.1720A>T (p.Met574Leu)
|
rs781416288
|
|
NM_002454.3(MTRR):c.1768A>G (p.Arg590Gly)
|
|
|
NM_002454.3(MTRR):c.1769+6G>A
|
|
|
NM_002454.3(MTRR):c.1771A>G (p.Lys591Glu)
|
|
|
NM_002454.3(MTRR):c.1784A>G (p.His595Arg)
|
|
|
NM_002454.3(MTRR):c.1796A>G (p.His599Arg)
|
|
|
NM_002454.3(MTRR):c.1818G>T (p.Lys606Asn)
|
rs939239779
|
|
NM_002454.3(MTRR):c.1832G>C (p.Arg611Thr)
|
rs2126814266
|
|
NM_002454.3(MTRR):c.1846G>A (p.Gly616Arg)
|
|
|
NM_002454.3(MTRR):c.1910_1911delinsAA (p.Ala637Glu)
|
|
|
NM_002454.3(MTRR):c.1927G>C (p.Glu643Gln)
|
|
|
NM_002454.3(MTRR):c.1953del (p.Asp652fs)
|
|
|
NM_002454.3(MTRR):c.1958C>A (p.Ala653Glu)
|
|
|
NM_002454.3(MTRR):c.1970C>T (p.Ala657Val)
|
rs1739209079
|
|
NM_002454.3(MTRR):c.1975G>T (p.Asp659Tyr)
|
|
|
NM_002454.3(MTRR):c.1977T>G (p.Asp659Glu)
|
rs751318676
|
|
NM_002454.3(MTRR):c.1998A>G (p.Gln666=)
|
rs767507060
|
|
NM_002454.3(MTRR):c.2021T>C (p.Val674Ala)
|
rs775031794
|
|
NM_002454.3(MTRR):c.2072G>A (p.Arg691His)
|
|
|
NM_002454.3(MTRR):c.220A>G (p.Lys74Glu)
|
rs1748351304
|
|
NM_002454.3(MTRR):c.253T>G (p.Phe85Val)
|
|
|
NM_002454.3(MTRR):c.26C>G (p.Ala9Gly)
|
|
|
NM_002454.3(MTRR):c.299A>G (p.Glu100Gly)
|
|
|
NM_002454.3(MTRR):c.304A>C (p.Thr102Pro)
|
|
|
NM_002454.3(MTRR):c.320G>A (p.Gly107Glu)
|
|
|
NM_002454.3(MTRR):c.350A>G (p.Glu117Gly)
|
rs2126675683
|
|
NM_002454.3(MTRR):c.361C>T (p.Arg121Trp)
|
|
|
NM_002454.3(MTRR):c.362G>A (p.Arg121Gln)
|
|
|
NM_002454.3(MTRR):c.397G>C (p.Val133Leu)
|
rs770923981
|
|
NM_002454.3(MTRR):c.449T>G (p.Leu150Arg)
|
rs2126693065
|
|
NM_002454.3(MTRR):c.485A>G (p.Glu162Gly)
|
rs1734869328
|
|
NM_002454.3(MTRR):c.496G>A (p.Ala166Thr)
|
|
|
NM_002454.3(MTRR):c.496G>T (p.Ala166Ser)
|
|
|
NM_002454.3(MTRR):c.499C>G (p.Leu167Val)
|
|
|
NM_002454.3(MTRR):c.538G>A (p.Val180Met)
|
|
|
NM_002454.3(MTRR):c.55G>A (p.Ala19Thr)
|
|
|
NM_002454.3(MTRR):c.589G>A (p.Asp197Asn)
|
rs748186027
|
|
NM_002454.3(MTRR):c.635T>C (p.Val212Ala)
|
|
|
NM_002454.3(MTRR):c.652A>C (p.Asn218His)
|
|
|
NM_002454.3(MTRR):c.652A>G (p.Asn218Asp)
|
|
|
NM_002454.3(MTRR):c.654T>G (p.Asn218Lys)
|
|
|
NM_002454.3(MTRR):c.716C>T (p.Ser239Phe)
|
rs371860776
|
|
NM_002454.3(MTRR):c.781-5T>G
|
rs2126727387
|
|
NM_002454.3(MTRR):c.794T>G (p.Val265Gly)
|
|
|
NM_002454.3(MTRR):c.829C>A (p.Pro277Thr)
|
|
|
NM_002454.3(MTRR):c.83T>C (p.Val28Ala)
|
|
|
NM_002454.3(MTRR):c.850C>T (p.Leu284Phe)
|
|
|
NM_002454.3(MTRR):c.860A>G (p.Asn287Ser)
|
rs750009895
|
|
NM_002454.3(MTRR):c.865G>A (p.Ala289Thr)
|
rs776031136
|
|
NM_002454.3(MTRR):c.908C>T (p.Thr303Ile)
|
|
|
NM_002454.3(MTRR):c.935C>G (p.Ala312Gly)
|
|
|
NM_002454.3(MTRR):c.943G>A (p.Val315Met)
|
|
|
NM_002454.3(MTRR):c.953C>T (p.Pro318Leu)
|
rs2126745024
|
|
NM_002454.3(MTRR):c.957C>G (p.Asn319Lys)
|
|
|
NM_002454.3(MTRR):c.976A>G (p.Ser326Gly)
|
rs2126745139
|
|
NM_002454.3(MTRR):c.997C>T (p.Leu333Phe)
|
|
|
NM_002454.3(MTRR):c.99A>C (p.Ala33=)
|
rs1747850617
|
|
NM_002602.4(PDE6G):c.*342C>T
|
rs2036335909
|
|
NM_002602.4(PDE6G):c.*420G>A
|
rs575031718
|
|
NM_002602.4(PDE6G):c.*4G>C
|
rs200236628
|
|
NM_002602.4(PDE6G):c.*529C>T
|
rs1479530684
|
|
NM_002602.4(PDE6G):c.-57C>G
|
rs772348610
|
|
NM_002602.4(PDE6G):c.-92C>G
|
rs1598721991
|
|
NM_002602.4(PDE6G):c.14C>T (p.Pro5Leu)
|
rs762125725
|
|
NM_002860.4(ALDH18A1):c.*202T>C
|
rs886047509
|
|
NM_002860.4(ALDH18A1):c.*466T>G
|
rs886047508
|
|
NM_002860.4(ALDH18A1):c.*644A>G
|
rs1052895099
|
|
NM_002860.4(ALDH18A1):c.-67C>T
|
rs886047514
|
|
NM_002860.4(ALDH18A1):c.1001A>G (p.Lys334Arg)
|
|
|
NM_002860.4(ALDH18A1):c.100C>G (p.Pro34Ala)
|
|
|
NM_002860.4(ALDH18A1):c.1015G>A (p.Val339Ile)
|
rs1346763871
|
|
NM_002860.4(ALDH18A1):c.1032_1033delinsTC (p.Glu345Gln)
|
|
|
NM_002860.4(ALDH18A1):c.1042A>G (p.Lys348Glu)
|
|
|
NM_002860.4(ALDH18A1):c.1046T>G (p.Val349Gly)
|
|
|
NM_002860.4(ALDH18A1):c.1048G>T (p.Gly350Cys)
|
|
|
NM_002860.4(ALDH18A1):c.1073C>T (p.Pro358Leu)
|
rs868590536
|
|
NM_002860.4(ALDH18A1):c.1076C>T (p.Ala359Val)
|
rs933310637
|
|
NM_002860.4(ALDH18A1):c.1078+4A>G
|
rs1566018543
|
|
NM_002860.4(ALDH18A1):c.1078+5A>G
|
rs2139591190
|
|
NM_002860.4(ALDH18A1):c.1078+6T>C
|
rs919353563
|
|
NM_002860.4(ALDH18A1):c.1106T>C (p.Met369Thr)
|
|
|
NM_002860.4(ALDH18A1):c.1112G>C (p.Arg371Pro)
|
|
|
NM_002860.4(ALDH18A1):c.1112G>T (p.Arg371Leu)
|
|
|
NM_002860.4(ALDH18A1):c.111C>G (p.Ile37Met)
|
|
|
NM_002860.4(ALDH18A1):c.1126A>T (p.Met376Leu)
|
|
|
NM_002860.4(ALDH18A1):c.1144C>T (p.Pro382Ser)
|
|
|
NM_002860.4(ALDH18A1):c.1150C>G (p.Gln384Glu)
|
|
|
NM_002860.4(ALDH18A1):c.1151A>G (p.Gln384Arg)
|
|
|
NM_002860.4(ALDH18A1):c.1152+6A>C
|
|
|
NM_002860.4(ALDH18A1):c.1169A>G (p.His390Arg)
|
rs2097858992
|
|
NM_002860.4(ALDH18A1):c.1172A>T (p.His391Leu)
|
rs774081826
|
|
NM_002860.4(ALDH18A1):c.1177G>A (p.Ala393Thr)
|
|
|
NM_002860.4(ALDH18A1):c.1180G>A (p.Asp394Asn)
|
|
|
NM_002860.4(ALDH18A1):c.1199G>A (p.Arg400His)
|
rs1283928441
|
|
NM_002860.4(ALDH18A1):c.11A>G (p.Gln4Arg)
|
|
|
NM_002860.4(ALDH18A1):c.121C>G (p.Arg41Gly)
|
rs370450551
|
|
NM_002860.4(ALDH18A1):c.121C>T (p.Arg41Cys)
|
|
|
NM_002860.4(ALDH18A1):c.1236G>C (p.Glu412Asp)
|
|
|
NM_002860.4(ALDH18A1):c.1237G>C (p.Glu413Gln)
|
rs147348068
|
|
NM_002860.4(ALDH18A1):c.1253T>C (p.Leu418Pro)
|
rs201069261
|
|
NM_002860.4(ALDH18A1):c.1267C>A (p.Leu423Met)
|
|
|
NM_002860.4(ALDH18A1):c.1280G>A (p.Ser427Asn)
|
|
|
NM_002860.4(ALDH18A1):c.1292C>A (p.Ser431Tyr)
|
|
|
NM_002860.4(ALDH18A1):c.1312A>G (p.Ile438Val)
|
|
|
NM_002860.4(ALDH18A1):c.1322G>A (p.Arg441Gln)
|
|
|
NM_002860.4(ALDH18A1):c.1330G>A (p.Ala444Thr)
|
|
|
NM_002860.4(ALDH18A1):c.1357C>T (p.Arg453Cys)
|
|
|
NM_002860.4(ALDH18A1):c.135C>A (p.Asn45Lys)
|
|
|
NM_002860.4(ALDH18A1):c.1369C>T (p.Arg457Cys)
|
|
|
NM_002860.4(ALDH18A1):c.1370G>A (p.Arg457His)
|
rs570730665
|
|
NM_002860.4(ALDH18A1):c.1376G>C (p.Arg459Pro)
|
rs771386671
|
|
NM_002860.4(ALDH18A1):c.1380C>A (p.Ile460=)
|
rs770247123
|
|
NM_002860.4(ALDH18A1):c.1385A>G (p.Lys462Arg)
|
rs886047511
|
|
NM_002860.4(ALDH18A1):c.1393G>C (p.Glu465Gln)
|
rs757876226
|
|
NM_002860.4(ALDH18A1):c.140C>T (p.Pro47Leu)
|
|
|
NM_002860.4(ALDH18A1):c.1411G>A (p.Val471Ile)
|
rs778369085
|
|
NM_002860.4(ALDH18A1):c.1411G>T (p.Val471Phe)
|
rs778369085
|
|
NM_002860.4(ALDH18A1):c.1447C>T (p.Arg483Cys)
|
|
|
NM_002860.4(ALDH18A1):c.1463C>T (p.Pro488Leu)
|
|
|
NM_002860.4(ALDH18A1):c.1474G>A (p.Ala492Thr)
|
rs2139552444
|
|
NM_002860.4(ALDH18A1):c.1474G>C (p.Ala492Pro)
|
|
|
NM_002860.4(ALDH18A1):c.1492G>A (p.Gly498Ser)
|
|
|
NM_002860.4(ALDH18A1):c.1514G>A (p.Gly505Glu)
|
|
|
NM_002860.4(ALDH18A1):c.1517G>T (p.Gly506Val)
|
|
|
NM_002860.4(ALDH18A1):c.1541G>A (p.Arg514Gln)
|
|
|
NM_002860.4(ALDH18A1):c.1549C>T (p.His517Tyr)
|
|
|
NM_002860.4(ALDH18A1):c.1551C>A (p.His517Gln)
|
rs185313265
|
|
NM_002860.4(ALDH18A1):c.155C>T (p.Pro52Leu)
|
rs140745368
|
|
NM_002860.4(ALDH18A1):c.1564_1565delinsTT (p.Glu522Leu)
|
|
|
NM_002860.4(ALDH18A1):c.1567G>C (p.Ala523Pro)
|
|
|
NM_002860.4(ALDH18A1):c.1567G>T (p.Ala523Ser)
|
|
|
NM_002860.4(ALDH18A1):c.157C>G (p.Leu53Val)
|
|
|
NM_002860.4(ALDH18A1):c.1605+5G>A
|
rs886047510
|
|
NM_002860.4(ALDH18A1):c.1617A>C (p.Arg539Ser)
|
|
|
NM_002860.4(ALDH18A1):c.163C>T (p.Arg55Cys)
|
|
|
NM_002860.4(ALDH18A1):c.1640G>A (p.Arg547His)
|
|
|
NM_002860.4(ALDH18A1):c.1653G>T (p.Met551Ile)
|
|
|
NM_002860.4(ALDH18A1):c.1655T>C (p.Ile552Thr)
|
|
|
NM_002860.4(ALDH18A1):c.1664T>A (p.Ile555Asn)
|
|
|
NM_002860.4(ALDH18A1):c.1672C>G (p.Arg558Gly)
|
|
|
NM_002860.4(ALDH18A1):c.1673G>A (p.Arg558His)
|
|
|
NM_002860.4(ALDH18A1):c.1685A>G (p.Gln562Arg)
|
|
|
NM_002860.4(ALDH18A1):c.1690G>A (p.Val564Ile)
|
rs2097840471
|
|
NM_002860.4(ALDH18A1):c.1691T>C (p.Val564Ala)
|
|
|
NM_002860.4(ALDH18A1):c.1703A>G (p.Gln568Arg)
|
|
|
NM_002860.4(ALDH18A1):c.1703A>T (p.Gln568Leu)
|
|
|
NM_002860.4(ALDH18A1):c.1729A>G (p.Met577Val)
|
|
|
NM_002860.4(ALDH18A1):c.1740C>G (p.Ser580Arg)
|
rs139035272
|
|
NM_002860.4(ALDH18A1):c.1740C>T (p.Ser580=)
|
rs139035272
|
|
NM_002860.4(ALDH18A1):c.1777A>G (p.Ser593Gly)
|
rs1231068982
|
|
NM_002860.4(ALDH18A1):c.1778G>C (p.Ser593Thr)
|
|
|
NM_002860.4(ALDH18A1):c.1780G>A (p.Val594Ile)
|
|
|
NM_002860.4(ALDH18A1):c.1784A>T (p.Asp595Val)
|
|
|
NM_002860.4(ALDH18A1):c.1788G>T (p.Lys596Asn)
|
rs764910330
|
|
NM_002860.4(ALDH18A1):c.1798C>G (p.Leu600Val)
|
rs1755139847
|
|
NM_002860.4(ALDH18A1):c.1802-21_1802-17del
|
|
|
NM_002860.4(ALDH18A1):c.1864C>G (p.Arg622Gly)
|
|
|
NM_002860.4(ALDH18A1):c.1894C>A (p.Gln632Lys)
|
|
|
NM_002860.4(ALDH18A1):c.190C>T (p.Arg64Cys)
|
|
|
NM_002860.4(ALDH18A1):c.1915G>A (p.Val639Met)
|
|
|
NM_002860.4(ALDH18A1):c.1924G>C (p.Val642Leu)
|
|
|
NM_002860.4(ALDH18A1):c.1926A>G (p.Val642=)
|
rs2139530896
|
|
NM_002860.4(ALDH18A1):c.1931T>A (p.Ile644Asn)
|
|
|
NM_002860.4(ALDH18A1):c.1936G>C (p.Ala646Pro)
|
rs2097834259
|
|
NM_002860.4(ALDH18A1):c.1940G>A (p.Gly647Asp)
|
rs2139530815
|
|
NM_002860.4(ALDH18A1):c.1956C>T (p.Ser652=)
|
|
|
NM_002860.4(ALDH18A1):c.1958A>C (p.Tyr653Ser)
|
|
|
NM_002860.4(ALDH18A1):c.1985A>G (p.Lys662Arg)
|
rs1250411325
|
|
NM_002860.4(ALDH18A1):c.1990C>T (p.Leu664Phe)
|
rs2097834101
|
|
NM_002860.4(ALDH18A1):c.19C>T (p.Arg7Cys)
|
|
|
NM_002860.4(ALDH18A1):c.2024T>C (p.Ile675Thr)
|
rs989031241
|
|
NM_002860.4(ALDH18A1):c.2032G>A (p.Val678Met)
|
|
|
NM_002860.4(ALDH18A1):c.2039A>G (p.Asn680Ser)
|
rs2139530277
|
|
NM_002860.4(ALDH18A1):c.2041G>T (p.Val681Phe)
|
|
|
NM_002860.4(ALDH18A1):c.204G>C (p.Lys68Asn)
|
rs768807587
|
|
NM_002860.4(ALDH18A1):c.2051C>A (p.Ala684Asp)
|
|
|
NM_002860.4(ALDH18A1):c.2054T>C (p.Ile685Thr)
|
rs2139530175
|
|
NM_002860.4(ALDH18A1):c.2067C>G (p.His689Gln)
|
|
|
NM_002860.4(ALDH18A1):c.2078G>C (p.Ser693Thr)
|
|
|
NM_002860.4(ALDH18A1):c.2081C>T (p.Ser694Phe)
|
|
|
NM_002860.4(ALDH18A1):c.2098G>T (p.Val700Phe)
|
rs375705932
|
|
NM_002860.4(ALDH18A1):c.20G>A (p.Arg7His)
|
|
|
NM_002860.4(ALDH18A1):c.20G>C (p.Arg7Pro)
|
rs753553298
|
|
NM_002860.4(ALDH18A1):c.2114A>G (p.Asn705Ser)
|
rs1325485951
|
|
NM_002860.4(ALDH18A1):c.2135A>G (p.Gln712Arg)
|
rs2097831329
|
|
NM_002860.4(ALDH18A1):c.2149G>A (p.Ala717Thr)
|
|
|
NM_002860.4(ALDH18A1):c.2159T>C (p.Phe720Ser)
|
rs2097831271
|
|
NM_002860.4(ALDH18A1):c.2195G>A (p.Arg732His)
|
rs774916138
|
|
NM_002860.4(ALDH18A1):c.2201G>A (p.Gly734Glu)
|
|
|
NM_002860.4(ALDH18A1):c.2207-7_2207-6inv
|
|
|
NM_002860.4(ALDH18A1):c.220G>A (p.Val74Met)
|
|
|
NM_002860.4(ALDH18A1):c.220G>T (p.Val74Leu)
|
|
|
NM_002860.4(ALDH18A1):c.2225G>T (p.Ser742Ile)
|
rs765567477
|
|
NM_002860.4(ALDH18A1):c.2230T>A (p.Ser744Thr)
|
|
|
NM_002860.4(ALDH18A1):c.2231C>G (p.Ser744Trp)
|
rs762271422
|
|
NM_002860.4(ALDH18A1):c.2231C>T (p.Ser744Leu)
|
rs762271422
|
|
NM_002860.4(ALDH18A1):c.223G>T (p.Val75Leu)
|
|
|
NM_002860.4(ALDH18A1):c.2257G>A (p.Gly753Arg)
|
rs2139513759
|
|
NM_002860.4(ALDH18A1):c.2260C>T (p.Leu754Phe)
|
rs2139513721
|
|
NM_002860.4(ALDH18A1):c.2270T>G (p.Leu757Arg)
|
rs2139513699
|
|
NM_002860.4(ALDH18A1):c.2278A>G (p.Thr760Ala)
|
|
|
NM_002860.4(ALDH18A1):c.2279C>T (p.Thr760Ile)
|
|
|
NM_002860.4(ALDH18A1):c.227A>G (p.Lys76Arg)
|
|
|
NM_002860.4(ALDH18A1):c.22T>C (p.Cys8Arg)
|
rs2139670118
|
|
NM_002860.4(ALDH18A1):c.2329C>A (p.His777Asn)
|
|
|
NM_002860.4(ALDH18A1):c.2329C>T (p.His777Tyr)
|
rs553385013
|
|
NM_002860.4(ALDH18A1):c.232G>A (p.Gly78Ser)
|
|
|
NM_002860.4(ALDH18A1):c.2339T>C (p.Leu780Ser)
|
|
|
NM_002860.4(ALDH18A1):c.2345A>C (p.Tyr782Ser)
|
rs774047299
|
|
NM_002860.4(ALDH18A1):c.2353G>A (p.Glu785Lys)
|
|
|
NM_002860.4(ALDH18A1):c.251G>C (p.Arg84Pro)
|
|
|
NM_002860.4(ALDH18A1):c.255G>T (p.Gly85=)
|
|
|
NM_002860.4(ALDH18A1):c.256G>A (p.Asp86Asn)
|
|
|
NM_002860.4(ALDH18A1):c.259G>A (p.Glu87Lys)
|
|
|
NM_002860.4(ALDH18A1):c.264T>C (p.Cys88=)
|
rs537733180
|
|
NM_002860.4(ALDH18A1):c.265G>A (p.Gly89Ser)
|
rs1085307589
|
|
NM_002860.4(ALDH18A1):c.26G>T (p.Gly9Val)
|
rs2139670109
|
|
NM_002860.4(ALDH18A1):c.280C>T (p.Arg94Cys)
|
rs2139642020
|
|
NM_002860.4(ALDH18A1):c.281G>A (p.Arg94His)
|
|
|
NM_002860.4(ALDH18A1):c.293T>C (p.Ile98Thr)
|
|
|
NM_002860.4(ALDH18A1):c.295G>A (p.Val99Ile)
|
|
|
NM_002860.4(ALDH18A1):c.299A>C (p.Glu100Ala)
|
|
|
NM_002860.4(ALDH18A1):c.304-8A>G
|
rs371815111
|
|
NM_002860.4(ALDH18A1):c.33G>C (p.Gln11His)
|
rs2097913334
|
|
NM_002860.4(ALDH18A1):c.34C>G (p.Pro12Ala)
|
|
|
NM_002860.4(ALDH18A1):c.371A>G (p.Lys124Arg)
|
|
|
NM_002860.4(ALDH18A1):c.382C>T (p.Arg128Cys)
|
|
|
NM_002860.4(ALDH18A1):c.407G>A (p.Ser136Asn)
|
|
|
NM_002860.4(ALDH18A1):c.40A>G (p.Asn14Asp)
|
|
|
NM_002860.4(ALDH18A1):c.41A>G (p.Asn14Ser)
|
|
|
NM_002860.4(ALDH18A1):c.428C>T (p.Ser143Leu)
|
rs1302919102
|
|
NM_002860.4(ALDH18A1):c.469G>C (p.Glu157Gln)
|
|
|
NM_002860.4(ALDH18A1):c.49C>A (p.Leu17Ile)
|
rs2139670010
|
|
NM_002860.4(ALDH18A1):c.553_554delinsTT (p.Ala185Phe)
|
|
|
NM_002860.4(ALDH18A1):c.565G>C (p.Val189Leu)
|
|
|
NM_002860.4(ALDH18A1):c.572A>C (p.Asn191Thr)
|
rs747052164
|
|
NM_002860.4(ALDH18A1):c.601C>T (p.Arg201Trp)
|
|
|
NM_002860.4(ALDH18A1):c.695A>G (p.Asn232Ser)
|
|
|
NM_002860.4(ALDH18A1):c.709G>T (p.Gly237Trp)
|
rs201841420
|
|
NM_002860.4(ALDH18A1):c.714A>G (p.Val238=)
|
|
|
NM_002860.4(ALDH18A1):c.715A>G (p.Asn239Asp)
|
rs2139609482
|
|
NM_002860.4(ALDH18A1):c.717+9A>C
|
|
|
NM_002860.4(ALDH18A1):c.718-3T>C
|
|
|
NM_002860.4(ALDH18A1):c.718G>C (p.Val240Leu)
|
rs2139608040
|
|
NM_002860.4(ALDH18A1):c.71C>T (p.Thr24Ile)
|
|
|
NM_002860.4(ALDH18A1):c.731A>G (p.Lys244Arg)
|
rs2139607977
|
|
NM_002860.4(ALDH18A1):c.732_737del (p.Lys244_Asp245del)
|
|
|
NM_002860.4(ALDH18A1):c.73A>G (p.Thr25Ala)
|
|
|
NM_002860.4(ALDH18A1):c.743G>A (p.Ser248Asn)
|
rs2097873418
|
|
NM_002860.4(ALDH18A1):c.748G>A (p.Ala250Thr)
|
|
|
NM_002860.4(ALDH18A1):c.754C>G (p.Arg252Gly)
|
|
|
NM_002860.4(ALDH18A1):c.781C>G (p.Leu261Val)
|
|
|
NM_002860.4(ALDH18A1):c.782T>C (p.Leu261Pro)
|
|
|
NM_002860.4(ALDH18A1):c.808+3A>G
|
|
|
NM_002860.4(ALDH18A1):c.809-1G>C
|
rs1202802893
|
|
NM_002860.4(ALDH18A1):c.819C>T (p.Asp273=)
|
rs752470665
|
|
NM_002860.4(ALDH18A1):c.826C>T (p.Pro276Ser)
|
rs372092118
|
|
NM_002860.4(ALDH18A1):c.836A>G (p.Asp279Gly)
|
|
|
NM_002860.4(ALDH18A1):c.839A>G (p.Asp280Gly)
|
|
|
NM_002860.4(ALDH18A1):c.856A>G (p.Ile286Val)
|
|
|
NM_002860.4(ALDH18A1):c.87T>G (p.Ser29=)
|
rs2097913253
|
|
NM_002860.4(ALDH18A1):c.887C>A (p.Thr296Lys)
|
rs768985400
|
|
NM_002860.4(ALDH18A1):c.89-1G>C
|
rs2139642879
|
|
NM_002860.4(ALDH18A1):c.89-3C>T
|
|
|
NM_002860.4(ALDH18A1):c.89-6C>G
|
rs2097895286
|
|
NM_002860.4(ALDH18A1):c.917G>T (p.Gly306Val)
|
|
|
NM_002860.4(ALDH18A1):c.928_929delinsAT (p.Ala310Ile)
|
|
|
NM_002860.4(ALDH18A1):c.933+19_933+20insAAGAATCTGGTGCCTTACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAAGATNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA
|
|
|
NM_002860.4(ALDH18A1):c.933+6A>C
|
|
|
NM_002860.4(ALDH18A1):c.946C>G (p.Leu316Val)
|
|
|
NM_002860.4(ALDH18A1):c.95T>C (p.Ile32Thr)
|
|
|
NM_002860.4(ALDH18A1):c.965G>T (p.Gly322Val)
|
|
|
NM_002860.4(ALDH18A1):c.967A>G (p.Thr323Ala)
|
|
|
NM_002860.4(ALDH18A1):c.973G>T (p.Val325Phe)
|
rs192770256
|
|
NM_002860.4(ALDH18A1):c.973GTT[1] (p.Val326del)
|
|
|
NM_002900.3(RBP3):c.*116A>C
|
rs1837067775
|
|
NM_002900.3(RBP3):c.*226C>G
|
rs541270803
|
|
NM_002900.3(RBP3):c.*266C>G
|
rs998604639
|
|
NM_002900.3(RBP3):c.-83G>A
|
rs1836888927
|
|
NM_002900.3(RBP3):c.1327C>A (p.Arg443Ser)
|
rs864621999
|
|
NM_002900.3(RBP3):c.1412C>A (p.Thr471Lys)
|
|
|
NM_002900.3(RBP3):c.1588C>T (p.Arg530Cys)
|
rs202162675
|
|
NM_002900.3(RBP3):c.1641G>A (p.Thr547=)
|
rs534717081
|
|
NM_002900.3(RBP3):c.1674G>A (p.Ser558=)
|
rs372137106
|
|
NM_002900.3(RBP3):c.1742T>A (p.Leu581Gln)
|
rs886047021
|
|
NM_002900.3(RBP3):c.1754C>A (p.Pro585His)
|
rs781830183
|
|
NM_002900.3(RBP3):c.1776C>G (p.Thr592=)
|
rs139452142
|
|
NM_002900.3(RBP3):c.1776C>T (p.Thr592=)
|
rs139452142
|
|
NM_002900.3(RBP3):c.1813G>C (p.Ala605Pro)
|
rs886047020
|
|
NM_002900.3(RBP3):c.1844C>T (p.Ala615Val)
|
rs368920246
|
|
NM_002900.3(RBP3):c.1919T>C (p.Val640Ala)
|
rs886047019
|
|
NM_002900.3(RBP3):c.2012G>A (p.Gly671Asp)
|
rs886047018
|
|
NM_002900.3(RBP3):c.2024C>T (p.Thr675Ile)
|
rs864622000
|
|
NM_002900.3(RBP3):c.2221G>A (p.Gly741Ser)
|
rs143110000
|
|
NM_002900.3(RBP3):c.2239C>T (p.Arg747Cys)
|
rs782664364
|
|
NM_002900.3(RBP3):c.2327C>A (p.Ala776Asp)
|
rs782431515
|
|
NM_002900.3(RBP3):c.2355C>A (p.Asn785Lys)
|
rs864622001
|
|
NM_002900.3(RBP3):c.2497C>A (p.Arg833Ser)
|
rs142945423
|
|
NM_002900.3(RBP3):c.2708C>G (p.Thr903Arg)
|
rs373766942
|
|
NM_002900.3(RBP3):c.2763C>A (p.Ser921Arg)
|
rs548622709
|
|
NM_002900.3(RBP3):c.2888C>T (p.Thr963Ile)
|
rs200706310
|
|
NM_002900.3(RBP3):c.3175G>A (p.Val1059Ile)
|
rs864622002
|
|
NM_002900.3(RBP3):c.3245+1del
|
rs868975969
|
|
NM_002900.3(RBP3):c.3363A>G (p.Glu1121=)
|
rs201472530
|
|
NM_002900.3(RBP3):c.3382G>A (p.Val1128Ile)
|
rs1588865742
|
|
NM_002900.3(RBP3):c.586G>A (p.Val196Met)
|
rs782398712
|
|
NM_002900.3(RBP3):c.590A>G (p.Asp197Gly)
|
rs1555210967
|
|
NM_002900.3(RBP3):c.971G>T (p.Ser324Ile)
|
rs1836914786
|
|
NM_003038.5(SLC1A4):c.1010C>A (p.Ala337Glu)
|
|
|
NM_003038.5(SLC1A4):c.1040C>A (p.Ala347Glu)
|
|
|
NM_003038.5(SLC1A4):c.1280G>A (p.Gly427Glu)
|
|
|
NM_003038.5(SLC1A4):c.172_193del (p.Leu58fs)
|
|
|
NM_003038.5(SLC1A4):c.442C>T (p.Leu148Phe)
|
|
|
NM_003038.5(SLC1A4):c.570G>A (p.Thr190=)
|
|
|
NM_003042.4(SLC6A1):c.1013T>A (p.Ile338Asn)
|
|
|
NM_003042.4(SLC6A1):c.1033A>G (p.Met345Val)
|
|
|
NM_003042.4(SLC6A1):c.1034T>C (p.Met345Thr)
|
rs1697627975
|
|
NM_003042.4(SLC6A1):c.103C>G (p.Gln35Glu)
|
|
|
NM_003042.4(SLC6A1):c.1066G>A (p.Val356Met)
|
rs1697630365
|
|
NM_003042.4(SLC6A1):c.1077A>G (p.Ser359=)
|
|
|
NM_003042.4(SLC6A1):c.1078+4A>G
|
|
|
NM_003042.4(SLC6A1):c.1081C>T (p.Pro361Ser)
|
|
|
NM_003042.4(SLC6A1):c.1091C>T (p.Ala364Val)
|
|
|
NM_003042.4(SLC6A1):c.1096C>A (p.Leu366Met)
|
|
|
NM_003042.4(SLC6A1):c.1106C>T (p.Pro369Leu)
|
rs2124930745
|
|
NM_003042.4(SLC6A1):c.1112C>T (p.Ala371Val)
|
|
|
NM_003042.4(SLC6A1):c.1147A>G (p.Ile383Val)
|
rs1697751144
|
|
NM_003042.4(SLC6A1):c.1150C>G (p.Leu384Val)
|
|
|
NM_003042.4(SLC6A1):c.1178G>A (p.Gly393Asp)
|
rs2124930941
|
|
NM_003042.4(SLC6A1):c.1187G>A (p.Ser396Asn)
|
rs2124930953
|
|
NM_003042.4(SLC6A1):c.118G>A (p.Asp40Asn)
|
|
|
NM_003042.4(SLC6A1):c.1191+3G>A
|
|
|
NM_003042.4(SLC6A1):c.1192-5T>G
|
|
|
NM_003042.4(SLC6A1):c.1192T>C (p.Phe398Leu)
|
|
|
NM_003042.4(SLC6A1):c.1229A>T (p.Asp410Val)
|
|
|
NM_003042.4(SLC6A1):c.1230T>A (p.Asp410Glu)
|
|
|
NM_003042.4(SLC6A1):c.1252A>C (p.Asn418His)
|
|
|
NM_003042.4(SLC6A1):c.1256G>T (p.Arg419Leu)
|
rs941588071
|
|
NM_003042.4(SLC6A1):c.1304G>A (p.Gly435Asp)
|
rs2124932138
|
|
NM_003042.4(SLC6A1):c.1304G>T (p.Gly435Val)
|
|
|
NM_003042.4(SLC6A1):c.1307T>A (p.Leu436His)
|
rs2124932154
|
|
NM_003042.4(SLC6A1):c.131G>C (p.Arg44Pro)
|
rs794726859
|
|
NM_003042.4(SLC6A1):c.1324G>A (p.Gly442Arg)
|
|
|
NM_003042.4(SLC6A1):c.1325G>A (p.Gly442Glu)
|
|
|
NM_003042.4(SLC6A1):c.1345C>T (p.Leu449Phe)
|
|
|
NM_003042.4(SLC6A1):c.1352A>G (p.Asp451Gly)
|
rs869312680
|
|
NM_003042.4(SLC6A1):c.1357T>C (p.Tyr453His)
|
|
|
NM_003042.4(SLC6A1):c.1376G>C (p.Ser459Thr)
|
|
|
NM_003042.4(SLC6A1):c.13G>A (p.Gly5Ser)
|
|
|
NM_003042.4(SLC6A1):c.1402T>C (p.Cys468Arg)
|
rs1559636673
|
|
NM_003042.4(SLC6A1):c.1426+3_1426+6del
|
rs1553691139
|
|
NM_003042.4(SLC6A1):c.1427-9A>G
|
rs1698019472
|
|
NM_003042.4(SLC6A1):c.1427G>A (p.Gly476Asp)
|
rs1698020197
|
|
NM_003042.4(SLC6A1):c.1438T>C (p.Phe480Leu)
|
rs758351251
|
|
NM_003042.4(SLC6A1):c.1439T>C (p.Phe480Ser)
|
|
|
NM_003042.4(SLC6A1):c.143A>T (p.Lys48Met)
|
|
|
NM_003042.4(SLC6A1):c.144G>C (p.Lys48Asn)
|
|
|
NM_003042.4(SLC6A1):c.1453C>G (p.Gln485Glu)
|
|
|
NM_003042.4(SLC6A1):c.1454A>G (p.Gln485Arg)
|
rs1359645826
|
|
NM_003042.4(SLC6A1):c.1458G>C (p.Glu486Asp)
|
|
|
NM_003042.4(SLC6A1):c.1461G>A (p.Met487Ile)
|
rs1698021866
|
|
NM_003042.4(SLC6A1):c.1461_1462insCAG (p.Met487_Val488insGln)
|
rs1574922559
|
|
NM_003042.4(SLC6A1):c.1462G>A (p.Val488Ile)
|
|
|
NM_003042.4(SLC6A1):c.1475C>T (p.Pro492Leu)
|
|
|
NM_003042.4(SLC6A1):c.1477T>C (p.Cys493Arg)
|
rs2124942534
|
|
NM_003042.4(SLC6A1):c.148C>T (p.Arg50Cys)
|
rs754493263
|
|
NM_003042.4(SLC6A1):c.1496G>A (p.Cys499Tyr)
|
rs1574922621
|
|
NM_003042.4(SLC6A1):c.1498T>C (p.Trp500Arg)
|
|
|
NM_003042.4(SLC6A1):c.1504T>C (p.Phe502Leu)
|
rs1029475140
|
|
NM_003042.4(SLC6A1):c.1507T>C (p.Phe503Leu)
|
|
|
NM_003042.4(SLC6A1):c.1513C>G (p.Pro505Ala)
|
rs1698023649
|
|
NM_003042.4(SLC6A1):c.151T>C (p.Phe51Leu)
|
|
|
NM_003042.4(SLC6A1):c.1525G>A (p.Ala509Thr)
|
rs2124942675
|
|
NM_003042.4(SLC6A1):c.1527G>C (p.Ala509=)
|
|
|
NM_003042.4(SLC6A1):c.1528-7T>A
|
rs754449950
|
|
NM_003042.4(SLC6A1):c.1528G>C (p.Gly510Arg)
|
|
|
NM_003042.4(SLC6A1):c.152T>A (p.Phe51Tyr)
|
rs1553687887
|
|
NM_003042.4(SLC6A1):c.154G>T (p.Asp52Tyr)
|
rs1574891085
|
|
NM_003042.4(SLC6A1):c.1557G>T (p.Met519Ile)
|
|
|
NM_003042.4(SLC6A1):c.1573_1574del (p.Gly525fs)
|
|
|
NM_003042.4(SLC6A1):c.1578C>G (p.Asn526Lys)
|
|
|
NM_003042.4(SLC6A1):c.1594T>C (p.Trp532Arg)
|
rs2124944497
|
|
NM_003042.4(SLC6A1):c.1597G>C (p.Gly533Arg)
|
rs1698067665
|
|
NM_003042.4(SLC6A1):c.1598G>A (p.Gly533Asp)
|
|
|
NM_003042.4(SLC6A1):c.1604G>T (p.Gly535Val)
|
|
|
NM_003042.4(SLC6A1):c.1610G>C (p.Gly537Ala)
|
|
|
NM_003042.4(SLC6A1):c.1635G>A (p.Met545Ile)
|
rs2124944561
|
|
NM_003042.4(SLC6A1):c.1640T>G (p.Leu547Arg)
|
rs1559640513
|
|
NM_003042.4(SLC6A1):c.1640del (p.Leu547fs)
|
rs1698068785
|
|
NM_003042.4(SLC6A1):c.1648G>A (p.Gly550Arg)
|
rs886042046
|
|
NM_003042.4(SLC6A1):c.1648G>C (p.Gly550Arg)
|
rs886042046
|
|
NM_003042.4(SLC6A1):c.1655T>A (p.Met552Lys)
|
rs1368412515
|
|
NM_003042.4(SLC6A1):c.1658C>A (p.Ala553Asp)
|
rs1559640572
|
|
NM_003042.4(SLC6A1):c.165G>A (p.Met55Ile)
|
|
|
NM_003042.4(SLC6A1):c.1681G>A (p.Gly561Ser)
|
rs1574925115
|
|
NM_003042.4(SLC6A1):c.1695+3A>G
|
rs1559640624
|
|
NM_003042.4(SLC6A1):c.1696C>T (p.Arg566Cys)
|
|
|
NM_003042.4(SLC6A1):c.169T>G (p.Cys57Gly)
|
rs1697196424
|
|
NM_003042.4(SLC6A1):c.1705G>A (p.Val569Ile)
|
rs1193651446
|
|
NM_003042.4(SLC6A1):c.170G>A (p.Cys57Tyr)
|
rs2124905489
|
|
NM_003042.4(SLC6A1):c.170G>T (p.Cys57Phe)
|
|
|
NM_003042.4(SLC6A1):c.1710G>T (p.Met570Ile)
|
|
|
NM_003042.4(SLC6A1):c.1723G>A (p.Glu575Lys)
|
|
|
NM_003042.4(SLC6A1):c.1738C>G (p.Pro580Ala)
|
rs747243516
|
|
NM_003042.4(SLC6A1):c.1753G>C (p.Glu585Gln)
|
rs1698165983
|
|
NM_003042.4(SLC6A1):c.1773C>G (p.Ser591Arg)
|
rs956462752
|
|
NM_003042.4(SLC6A1):c.1777A>C (p.Thr593Pro)
|
rs1698167143
|
|
NM_003042.4(SLC6A1):c.1781G>A (p.Ser594Asn)
|
|
|
NM_003042.4(SLC6A1):c.1789G>A (p.Ala597Thr)
|
|
|
NM_003042.4(SLC6A1):c.179A>G (p.Tyr60Cys)
|
|
|
NM_003042.4(SLC6A1):c.182C>T (p.Ala61Val)
|
rs2124905520
|
|
NM_003042.4(SLC6A1):c.187G>A (p.Gly63Ser)
|
rs1057523845
|
|
NM_003042.4(SLC6A1):c.194G>T (p.Gly65Val)
|
rs1697197329
|
|
NM_003042.4(SLC6A1):c.207G>C (p.Arg69Ser)
|
|
|
NM_003042.4(SLC6A1):c.215A>G (p.Tyr72Cys)
|
|
|
NM_003042.4(SLC6A1):c.218T>C (p.Leu73Pro)
|
|
|
NM_003042.4(SLC6A1):c.237G>A (p.Gly79=)
|
rs1392190073
|
|
NM_003042.4(SLC6A1):c.242C>A (p.Ala81Asp)
|
rs2124906663
|
|
NM_003042.4(SLC6A1):c.250A>T (p.Ile84Phe)
|
|
|
NM_003042.4(SLC6A1):c.252C>G (p.Ile84Met)
|
rs1697220075
|
|
NM_003042.4(SLC6A1):c.268C>G (p.Leu90Val)
|
rs2124906730
|
|
NM_003042.4(SLC6A1):c.292T>G (p.Phe98Val)
|
rs2124906828
|
|
NM_003042.4(SLC6A1):c.299T>C (p.Leu100Pro)
|
rs2124906844
|
|
NM_003042.4(SLC6A1):c.302A>C (p.Glu101Ala)
|
|
|
NM_003042.4(SLC6A1):c.305G>T (p.Cys102Phe)
|
rs1553688027
|
|
NM_003042.4(SLC6A1):c.307T>C (p.Ser103Pro)
|
rs1574892346
|
|
NM_003042.4(SLC6A1):c.310C>G (p.Leu104Val)
|
|
|
NM_003042.4(SLC6A1):c.313G>T (p.Gly105Cys)
|
rs144322561
|
|
NM_003042.4(SLC6A1):c.314G>A (p.Gly105Asp)
|
rs1697222986
|
|
NM_003042.4(SLC6A1):c.322A>G (p.Thr108Ala)
|
rs1574892400
|
|
NM_003042.4(SLC6A1):c.332G>A (p.Gly111Glu)
|
rs1574892457
|
|
NM_003042.4(SLC6A1):c.332G>T (p.Gly111Val)
|
rs1574892457
|
|
NM_003042.4(SLC6A1):c.361A>G (p.Met121Val)
|
rs2124907057
|
|
NM_003042.4(SLC6A1):c.37A>G (p.Ile13Val)
|
rs1553687808
|
|
NM_003042.4(SLC6A1):c.37A>T (p.Ile13Phe)
|
rs1553687808
|
|
NM_003042.4(SLC6A1):c.386C>T (p.Ala129Val)
|
rs1697262028
|
|
NM_003042.4(SLC6A1):c.395T>C (p.Leu132Pro)
|
rs2124908640
|
|
NM_003042.4(SLC6A1):c.416A>G (p.Tyr139Cys)
|
rs2124908722
|
|
NM_003042.4(SLC6A1):c.438G>T (p.Trp146Cys)
|
rs2124908813
|
|
NM_003042.4(SLC6A1):c.452T>C (p.Leu151Pro)
|
|
|
NM_003042.4(SLC6A1):c.452T>G (p.Leu151Arg)
|
rs1697264679
|
|
NM_003042.4(SLC6A1):c.469A>G (p.Thr157Ala)
|
rs2124908883
|
|
NM_003042.4(SLC6A1):c.46G>A (p.Glu16Lys)
|
|
|
NM_003042.4(SLC6A1):c.470C>T (p.Thr157Met)
|
|
|
NM_003042.4(SLC6A1):c.471+5G>A
|
rs2124908923
|
|
NM_003042.4(SLC6A1):c.493G>A (p.Asp165Asn)
|
rs748779390
|
|
NM_003042.4(SLC6A1):c.502T>C (p.Trp168Arg)
|
|
|
NM_003042.4(SLC6A1):c.506A>T (p.Asn169Ile)
|
|
|
NM_003042.4(SLC6A1):c.515G>A (p.Arg172His)
|
|
|
NM_003042.4(SLC6A1):c.521T>C (p.Phe174Ser)
|
|
|
NM_003042.4(SLC6A1):c.527A>G (p.Asn176Ser)
|
|
|
NM_003042.4(SLC6A1):c.548C>T (p.Thr183Ile)
|
|
|
NM_003042.4(SLC6A1):c.54C>T (p.Ser18=)
|
rs1697188624
|
|
NM_003042.4(SLC6A1):c.553A>G (p.Met185Val)
|
rs1697341413
|
|
NM_003042.4(SLC6A1):c.576C>A (p.Phe192Leu)
|
rs1697342927
|
|
NM_003042.4(SLC6A1):c.578G>T (p.Trp193Leu)
|
rs1697343079
|
|
NM_003042.4(SLC6A1):c.581+3G>A
|
rs1442190993
|
|
NM_003042.4(SLC6A1):c.581+3G>C
|
rs1442190993
|
|
NM_003042.4(SLC6A1):c.583C>A (p.Arg195Ser)
|
rs769934894
|
|
NM_003042.4(SLC6A1):c.59C>T (p.Ala20Val)
|
|
|
NM_003042.4(SLC6A1):c.602C>T (p.Thr201Met)
|
|
|
NM_003042.4(SLC6A1):c.606C>A (p.Asp202Glu)
|
|
|
NM_003042.4(SLC6A1):c.606C>G (p.Asp202Glu)
|
rs146894194
|
|
NM_003042.4(SLC6A1):c.622G>C (p.Gly208Arg)
|
rs1697440696
|
|
NM_003042.4(SLC6A1):c.631C>T (p.Arg211Cys)
|
|
|
NM_003042.4(SLC6A1):c.650C>T (p.Thr217Met)
|
rs1396036517
|
|
NM_003042.4(SLC6A1):c.658_663del (p.Ile220_Ala221del)
|
|
|
NM_003042.4(SLC6A1):c.70A>C (p.Asn24His)
|
|
|
NM_003042.4(SLC6A1):c.715-4C>A
|
|
|
NM_003042.4(SLC6A1):c.715G>A (p.Val239Met)
|
rs2124924012
|
|
NM_003042.4(SLC6A1):c.719T>C (p.Val240Ala)
|
rs1184399068
|
|
NM_003042.4(SLC6A1):c.724T>A (p.Phe242Ile)
|
|
|
NM_003042.4(SLC6A1):c.740C>T (p.Pro247Leu)
|
rs1057524158
|
|
NM_003042.4(SLC6A1):c.743A>T (p.Tyr248Phe)
|
|
|
NM_003042.4(SLC6A1):c.767T>C (p.Phe256Ser)
|
rs1559629753
|
|
NM_003042.4(SLC6A1):c.773G>A (p.Gly258Glu)
|
|
|
NM_003042.4(SLC6A1):c.781C>G (p.Leu261Val)
|
|
|
NM_003042.4(SLC6A1):c.799G>A (p.Gly267Ser)
|
rs2124924313
|
|
NM_003042.4(SLC6A1):c.803T>C (p.Ile268Thr)
|
|
|
NM_003042.4(SLC6A1):c.805C>T (p.Leu269Phe)
|
rs2124924355
|
|
NM_003042.4(SLC6A1):c.814A>G (p.Ile272Val)
|
rs910919772
|
|
NM_003042.4(SLC6A1):c.821C>G (p.Pro274Arg)
|
rs2124924416
|
|
NM_003042.4(SLC6A1):c.830G>T (p.Arg277Leu)
|
|
|
NM_003042.4(SLC6A1):c.832A>C (p.Lys278Gln)
|
|
|
NM_003042.4(SLC6A1):c.847G>A (p.Glu283Lys)
|
rs1697587984
|
|
NM_003042.4(SLC6A1):c.849G>C (p.Glu283Asp)
|
|
|
NM_003042.4(SLC6A1):c.850G>T (p.Val284Leu)
|
rs1559630133
|
|
NM_003042.4(SLC6A1):c.853T>C (p.Trp285Arg)
|
rs1559630143
|
|
NM_003042.4(SLC6A1):c.856C>G (p.Leu286Val)
|
|
|
NM_003042.4(SLC6A1):c.866C>T (p.Ala289Val)
|
rs1697597168
|
|
NM_003042.4(SLC6A1):c.875T>C (p.Ile292Thr)
|
|
|
NM_003042.4(SLC6A1):c.884C>T (p.Ser295Leu)
|
rs1574907241
|
|
NM_003042.4(SLC6A1):c.890G>T (p.Gly297Val)
|
rs1697598818
|
|
NM_003042.4(SLC6A1):c.904T>A (p.Ser302Thr)
|
rs1574907293
|
|
NM_003042.4(SLC6A1):c.913G>A (p.Ala305Thr)
|
rs1391625316
|
|
NM_003042.4(SLC6A1):c.930C>A (p.Asn310Lys)
|
rs1697600999
|
|
NM_003042.4(SLC6A1):c.939C>A (p.His313Gln)
|
|
|
NM_003042.4(SLC6A1):c.943A>G (p.Asn315Asp)
|
rs768276892
|
|
NM_003042.4(SLC6A1):c.953G>T (p.Arg318Met)
|
|
|
NM_003042.4(SLC6A1):c.967G>T (p.Val323Phe)
|
rs1403165900
|
|
NM_003042.4(SLC6A1):c.968T>A (p.Val323Asp)
|
|
|
NM_003042.4(SLC6A1):c.97A>G (p.Lys33Glu)
|
rs1334690406
|
|
NM_003042.4(SLC6A1):c.983C>T (p.Ser328Leu)
|
rs779431997
|
|
NM_003042.4(SLC6A1):c.985T>A (p.Cys329Ser)
|
|
|
NM_003042.4(SLC6A1):c.988A>C (p.Thr330Pro)
|
|
|
NM_003042.4(SLC6A1):c.990_991delinsAG (p.Ser331Gly)
|
rs1697624889
|
|
NM_003060.4(SLC22A5):c.*1020C>G
|
rs886059915
|
|
NM_003060.4(SLC22A5):c.*17G>A
|
rs773583158
|
|
NM_003060.4(SLC22A5):c.*195G>T
|
rs886059910
|
|
NM_003060.4(SLC22A5):c.*196A>T
|
rs557809028
|
|
NM_003060.4(SLC22A5):c.*417T>A
|
rs886059911
|
|
NM_003060.4(SLC22A5):c.*424T>C
|
rs886059912
|
|
NM_003060.4(SLC22A5):c.*654G>C
|
rs886059913
|
|
NM_003060.4(SLC22A5):c.*678G>T
|
rs148673968
|
|
NM_003060.4(SLC22A5):c.*705A>G
|
rs974114194
|
|
NM_003060.4(SLC22A5):c.*956_*957insTA
|
rs746348980
|
|
NM_003060.4(SLC22A5):c.*957A>T
|
rs200950736
|
|
NM_003060.4(SLC22A5):c.*960dup
|
rs869272980
|
|
NM_003060.4(SLC22A5):c.-129_-102del
|
rs1279199437
|
|
NM_003060.4(SLC22A5):c.-131A>C
|
rs1554085854
|
|
NM_003060.4(SLC22A5):c.-206A>C
|
rs1751805896
|
|
NM_003060.4(SLC22A5):c.-231G>C
|
rs1751803560
|
|
NM_003060.4(SLC22A5):c.-25C>T
|
rs886059907
|
|
NM_003060.4(SLC22A5):c.1000C>G (p.Leu334Val)
|
|
|
NM_003060.4(SLC22A5):c.1006C>A (p.Arg336=)
|
|
|
NM_003060.4(SLC22A5):c.1016A>G (p.Asn339Ser)
|
|
|
NM_003060.4(SLC22A5):c.1018A>T (p.Ile340Phe)
|
|
|
NM_003060.4(SLC22A5):c.1035C>G (p.Ile345Met)
|
|
|
NM_003060.4(SLC22A5):c.1036A>G (p.Met346Val)
|
rs745453534
|
|
NM_003060.4(SLC22A5):c.1037T>C (p.Met346Thr)
|
|
|
NM_003060.4(SLC22A5):c.1043T>A (p.Ile348Lys)
|
rs150544263
|
|
NM_003060.4(SLC22A5):c.1044A>G (p.Ile348Met)
|
|
|
NM_003060.4(SLC22A5):c.1046T>C (p.Met349Thr)
|
rs1280789093
|
|
NM_003060.4(SLC22A5):c.104C>G (p.Thr35Ser)
|
|
|
NM_003060.4(SLC22A5):c.104C>T (p.Thr35Ile)
|
rs759704527
|
|
NM_003060.4(SLC22A5):c.1052+3A>G
|
rs2126788177
|
|
NM_003060.4(SLC22A5):c.1052+5G>A
|
rs927950152
|
|
NM_003060.4(SLC22A5):c.1053-11C>G
|
|
|
NM_003060.4(SLC22A5):c.1055T>C (p.Met352Thr)
|
|
|
NM_003060.4(SLC22A5):c.1060A>G (p.Ile354Val)
|
rs1166753949
|
|
NM_003060.4(SLC22A5):c.1062A>G (p.Ile354Met)
|
rs2126789583
|
|
NM_003060.4(SLC22A5):c.1064C>T (p.Ser355Leu)
|
|
|
NM_003060.4(SLC22A5):c.1076T>C (p.Phe359Ser)
|
|
|
NM_003060.4(SLC22A5):c.1078_1083dup (p.Gly360_Leu361dup)
|
rs896634334
|
|
NM_003060.4(SLC22A5):c.1080_1081delinsTA (p.Leu361Ile)
|
rs1580892228
|
|
NM_003060.4(SLC22A5):c.1085C>T (p.Ser362Leu)
|
rs886042092
|
|
NM_003060.4(SLC22A5):c.1088T>A (p.Leu363His)
|
rs386134214
|
|
NM_003060.4(SLC22A5):c.1096C>T (p.Pro366Ser)
|
rs767240544
|
|
NM_003060.4(SLC22A5):c.1099A>G (p.Asn367Asp)
|
|
|
NM_003060.4(SLC22A5):c.109C>G (p.Leu37Val)
|
rs796052037
|
|
NM_003060.4(SLC22A5):c.1106A>C (p.His369Pro)
|
|
|
NM_003060.4(SLC22A5):c.1109G>A (p.Gly370Glu)
|
rs2126789674
|
|
NM_003060.4(SLC22A5):c.1120G>A (p.Val374Met)
|
rs886059909
|
|
NM_003060.4(SLC22A5):c.112T>A (p.Ser38Thr)
|
|
|
NM_003060.4(SLC22A5):c.1138G>A (p.Ala380Thr)
|
|
|
NM_003060.4(SLC22A5):c.1140G>T (p.Ala380=)
|
|
|
NM_003060.4(SLC22A5):c.1150G>A (p.Val384Ile)
|
|
|
NM_003060.4(SLC22A5):c.1168G>A (p.Ala390Thr)
|
|
|
NM_003060.4(SLC22A5):c.1169C>G (p.Ala390Gly)
|
rs1752671467
|
|
NM_003060.4(SLC22A5):c.119T>A (p.Val40Glu)
|
rs1561560593
|
|
NM_003060.4(SLC22A5):c.1205C>G (p.Ser402Cys)
|
|
|
NM_003060.4(SLC22A5):c.1207A>G (p.Met403Val)
|
rs2126789830
|
|
NM_003060.4(SLC22A5):c.1225C>G (p.Leu409Val)
|
rs573330330
|
|
NM_003060.4(SLC22A5):c.1232G>T (p.Gly411Val)
|
|
|
NM_003060.4(SLC22A5):c.1234A>C (p.Ser412Arg)
|
rs1057518364
|
|
NM_003060.4(SLC22A5):c.1235G>A (p.Ser412Asn)
|
rs2126789869
|
|
NM_003060.4(SLC22A5):c.1238T>C (p.Val413Ala)
|
|
|
NM_003060.4(SLC22A5):c.123C>G (p.Phe41Leu)
|
rs2126764960
|
|
NM_003060.4(SLC22A5):c.1267+3_1267+24del
|
rs1554088199
|
|
NM_003060.4(SLC22A5):c.1286C>T (p.Thr429Ile)
|
|
|
NM_003060.4(SLC22A5):c.1294G>C (p.Val432Leu)
|
|
|
NM_003060.4(SLC22A5):c.1295T>C (p.Val432Ala)
|
rs1172191328
|
|
NM_003060.4(SLC22A5):c.1303G>A (p.Gly435Ser)
|
|
|
NM_003060.4(SLC22A5):c.131C>A (p.Ala44Glu)
|
|
|
NM_003060.4(SLC22A5):c.131C>G (p.Ala44Gly)
|
|
|
NM_003060.4(SLC22A5):c.1324G>A (p.Ala442Thr)
|
|
|
NM_003060.4(SLC22A5):c.1324_1325delinsAT (p.Ala442Ile)
|
rs267607053
|
|
NM_003060.4(SLC22A5):c.1327T>C (p.Phe443Leu)
|
rs1580894264
|
|
NM_003060.4(SLC22A5):c.1331C>G (p.Ser444Cys)
|
|
|
NM_003060.4(SLC22A5):c.1346A>G (p.Tyr449Cys)
|
rs1183338050
|
|
NM_003060.4(SLC22A5):c.134C>A (p.Thr45Asn)
|
|
|
NM_003060.4(SLC22A5):c.1361A>T (p.Tyr454Phe)
|
|
|
NM_003060.4(SLC22A5):c.1363C>A (p.Pro455Thr)
|
rs1326829327
|
|
NM_003060.4(SLC22A5):c.1380C>A (p.Asn460Lys)
|
|
|
NM_003060.4(SLC22A5):c.1387G>T (p.Val463Leu)
|
rs2126791543
|
|
NM_003060.4(SLC22A5):c.1390G>A (p.Gly464Arg)
|
|
|
NM_003060.4(SLC22A5):c.1391G>A (p.Gly464Glu)
|
rs1752740146
|
|
NM_003060.4(SLC22A5):c.1397G>C (p.Ser466Thr)
|
rs2126791559
|
|
NM_003060.4(SLC22A5):c.140A>T (p.Glu47Val)
|
|
|
NM_003060.4(SLC22A5):c.1430C>T (p.Ser477Phe)
|
|
|
NM_003060.4(SLC22A5):c.1436A>G (p.Tyr479Cys)
|
rs977041272
|
|
NM_003060.4(SLC22A5):c.1440C>G (p.Phe480Leu)
|
rs150457229
|
|
NM_003060.4(SLC22A5):c.1441G>T (p.Val481Phe)
|
rs11568513
|
|
NM_003060.4(SLC22A5):c.1450+5G>A
|
rs1752743445
|
|
NM_003060.4(SLC22A5):c.1451-3T>A
|
rs760324689
|
|
NM_003060.4(SLC22A5):c.1451G>A (p.Gly484Asp)
|
rs28383480
|
|
NM_003060.4(SLC22A5):c.1457A>G (p.Tyr486Cys)
|
|
|
NM_003060.4(SLC22A5):c.1459G>A (p.Asp487Asn)
|
rs1752782020
|
|
NM_003060.4(SLC22A5):c.1462C>G (p.Arg488Gly)
|
|
|
NM_003060.4(SLC22A5):c.1475A>G (p.Tyr492Cys)
|
rs1413377442
|
|
NM_003060.4(SLC22A5):c.1477A>C (p.Ile493Leu)
|
rs2126792661
|
|
NM_003060.4(SLC22A5):c.1492C>A (p.Leu498Met)
|
rs183379391
|
|
NM_003060.4(SLC22A5):c.1505C>T (p.Thr502Ile)
|
|
|
NM_003060.4(SLC22A5):c.150C>G (p.Cys50Trp)
|
|
|
NM_003060.4(SLC22A5):c.1516A>T (p.Thr506Ser)
|
rs1752784173
|
|
NM_003060.4(SLC22A5):c.1517C>T (p.Thr506Ile)
|
rs753704081
|
|
NM_003060.4(SLC22A5):c.1519T>G (p.Leu507Val)
|
|
|
NM_003060.4(SLC22A5):c.1522T>C (p.Phe508Leu)
|
|
|
NM_003060.4(SLC22A5):c.152G>A (p.Arg51Gln)
|
|
|
NM_003060.4(SLC22A5):c.1534A>G (p.Ser512Gly)
|
|
|
NM_003060.4(SLC22A5):c.1537T>A (p.Phe513Ile)
|
rs1752785458
|
|
NM_003060.4(SLC22A5):c.1541G>A (p.Gly514Asp)
|
|
|
NM_003060.4(SLC22A5):c.1547C>T (p.Pro516Leu)
|
rs563142575
|
|
NM_003060.4(SLC22A5):c.1549C>T (p.Leu517Phe)
|
|
|
NM_003060.4(SLC22A5):c.1552C>T (p.Pro518Ser)
|
rs768925240
|
|
NM_003060.4(SLC22A5):c.1562T>C (p.Ile521Thr)
|
rs1752787157
|
|
NM_003060.4(SLC22A5):c.1582A>C (p.Lys528Gln)
|
|
|
NM_003060.4(SLC22A5):c.1582A>T (p.Lys528Ter)
|
|
|
NM_003060.4(SLC22A5):c.1586+6A>C
|
|
|
NM_003060.4(SLC22A5):c.1586G>C (p.Gly529Ala)
|
rs201307440
|
|
NM_003060.4(SLC22A5):c.1588A>G (p.Met530Val)
|
|
|
NM_003060.4(SLC22A5):c.158C>G (p.Pro53Arg)
|
|
|
NM_003060.4(SLC22A5):c.158C>T (p.Pro53Leu)
|
|
|
NM_003060.4(SLC22A5):c.1594C>T (p.His532Tyr)
|
rs1752801992
|
|
NM_003060.4(SLC22A5):c.1595_1604dup (p.Pro536fs)
|
rs796052040
|
|
NM_003060.4(SLC22A5):c.1596C>A (p.His532Gln)
|
rs1752802142
|
|
NM_003060.4(SLC22A5):c.1596_1597del (p.His532fs)
|
|
|
NM_003060.4(SLC22A5):c.160G>A (p.Asp54Asn)
|
|
|
NM_003060.4(SLC22A5):c.1631A>G (p.Asp544Gly)
|
|
|
NM_003060.4(SLC22A5):c.1636C>T (p.Gln546Ter)
|
rs1752804300
|
|
NM_003060.4(SLC22A5):c.1642A>G (p.Arg548Gly)
|
|
|
NM_003060.4(SLC22A5):c.1660A>G (p.Ser554Gly)
|
rs1561577867
|
|
NM_003060.4(SLC22A5):c.1663A>G (p.Thr555Ala)
|
|
|
NM_003060.4(SLC22A5):c.1674A>C (p.Ter558Tyr)
|
rs1554088647
|
|
NM_003060.4(SLC22A5):c.167C>T (p.Ala56Val)
|
rs2126765106
|
|
NM_003060.4(SLC22A5):c.172C>G (p.Leu58Val)
|
|
|
NM_003060.4(SLC22A5):c.176G>A (p.Ser59Asn)
|
rs1482607262
|
|
NM_003060.4(SLC22A5):c.177C>G (p.Ser59Arg)
|
|
|
NM_003060.4(SLC22A5):c.182C>T (p.Ala61Val)
|
|
|
NM_003060.4(SLC22A5):c.187C>G (p.Arg63Gly)
|
rs1297367229
|
|
NM_003060.4(SLC22A5):c.191A>T (p.Asn64Ile)
|
|
|
NM_003060.4(SLC22A5):c.194A>C (p.His65Pro)
|
|
|
NM_003060.4(SLC22A5):c.194A>T (p.His65Leu)
|
|
|
NM_003060.4(SLC22A5):c.196A>C (p.Thr66Pro)
|
rs1476076948
|
|
NM_003060.4(SLC22A5):c.196A>G (p.Thr66Ala)
|
|
|
NM_003060.4(SLC22A5):c.202C>T (p.Pro68Ser)
|
rs1045644394
|
|
NM_003060.4(SLC22A5):c.210_211delinsAA (p.Leu71Met)
|
rs1751844120
|
|
NM_003060.4(SLC22A5):c.215G>A (p.Arg72Gln)
|
|
|
NM_003060.4(SLC22A5):c.215G>C (p.Arg72Pro)
|
rs1177265994
|
|
NM_003060.4(SLC22A5):c.217G>A (p.Asp73Asn)
|
|
|
NM_003060.4(SLC22A5):c.220G>C (p.Gly74Arg)
|
|
|
NM_003060.4(SLC22A5):c.223C>A (p.Arg75Ser)
|
|
|
NM_003060.4(SLC22A5):c.232C>T (p.Pro78Ser)
|
rs1485828747
|
|
NM_003060.4(SLC22A5):c.233C>G (p.Pro78Arg)
|
rs1751846688
|
|
NM_003060.4(SLC22A5):c.233C>T (p.Pro78Leu)
|
rs1751846688
|
|
NM_003060.4(SLC22A5):c.235C>A (p.His79Asn)
|
|
|
NM_003060.4(SLC22A5):c.237C>A (p.His79Gln)
|
|
|
NM_003060.4(SLC22A5):c.23C>T (p.Thr8Ile)
|
|
|
NM_003060.4(SLC22A5):c.242G>A (p.Cys81Tyr)
|
rs1561560884
|
|
NM_003060.4(SLC22A5):c.245G>T (p.Arg82Leu)
|
|
|
NM_003060.4(SLC22A5):c.245_246delinsTT (p.Arg82Leu)
|
|
|
NM_003060.4(SLC22A5):c.248G>T (p.Arg83Leu)
|
rs72552726
|
|
NM_003060.4(SLC22A5):c.252C>T (p.Tyr84=)
|
rs1253026669
|
|
NM_003060.4(SLC22A5):c.265A>G (p.Ile89Val)
|
rs765849408
|
|
NM_003060.4(SLC22A5):c.268G>T (p.Ala90Ser)
|
|
|
NM_003060.4(SLC22A5):c.26C>G (p.Ala9Gly)
|
|
|
NM_003060.4(SLC22A5):c.274T>G (p.Phe92Val)
|
|
|
NM_003060.4(SLC22A5):c.275T>C (p.Phe92Ser)
|
|
|
NM_003060.4(SLC22A5):c.281C>T (p.Ala94Val)
|
|
|
NM_003060.4(SLC22A5):c.283C>G (p.Leu95Val)
|
rs386134191
|
|
NM_003060.4(SLC22A5):c.286G>A (p.Gly96Arg)
|
|
|
NM_003060.4(SLC22A5):c.289C>A (p.Leu97Met)
|
|
|
NM_003060.4(SLC22A5):c.289C>G (p.Leu97Val)
|
|
|
NM_003060.4(SLC22A5):c.292G>A (p.Glu98Lys)
|
|
|
NM_003060.4(SLC22A5):c.295C>T (p.Pro99Ser)
|
rs2126765451
|
|
NM_003060.4(SLC22A5):c.296C>T (p.Pro99Leu)
|
rs2126765457
|
|
NM_003060.4(SLC22A5):c.29T>A (p.Phe10Tyr)
|
rs1751823291
|
|
NM_003060.4(SLC22A5):c.304G>A (p.Asp102Asn)
|
|
|
NM_003060.4(SLC22A5):c.306C>A (p.Asp102Glu)
|
rs1751854895
|
|
NM_003060.4(SLC22A5):c.325G>C (p.Glu109Gln)
|
rs1254200528
|
|
NM_003060.4(SLC22A5):c.327G>C (p.Glu109Asp)
|
rs760680664
|
|
NM_003060.4(SLC22A5):c.32T>C (p.Leu11Pro)
|
rs1751823540
|
|
NM_003060.4(SLC22A5):c.341T>C (p.Leu114Pro)
|
|
|
NM_003060.4(SLC22A5):c.344A>G (p.Asp115Gly)
|
rs386134192
|
|
NM_003060.4(SLC22A5):c.35G>A (p.Gly12Asp)
|
rs886043206
|
|
NM_003060.4(SLC22A5):c.35_36delinsAT (p.Gly12Asp)
|
|
|
NM_003060.4(SLC22A5):c.366C>G (p.Asp122Glu)
|
rs2126765599
|
|
NM_003060.4(SLC22A5):c.37G>A (p.Glu13Lys)
|
rs553647459
|
|
NM_003060.4(SLC22A5):c.393+5G>A
|
rs1554086029
|
|
NM_003060.4(SLC22A5):c.394-151C>G
|
|
|
NM_003060.4(SLC22A5):c.39G>C (p.Glu13Asp)
|
rs1561560357
|
|
NM_003060.4(SLC22A5):c.40T>A (p.Trp14Arg)
|
rs756863825
|
|
NM_003060.4(SLC22A5):c.412G>A (p.Asp138Asn)
|
rs534336326
|
|
NM_003060.4(SLC22A5):c.412G>T (p.Asp138Tyr)
|
rs534336326
|
|
NM_003060.4(SLC22A5):c.412GAC[1] (p.Asp139del)
|
rs1554086841
|
|
NM_003060.4(SLC22A5):c.418T>C (p.Trp140Arg)
|
rs1554086844
|
|
NM_003060.4(SLC22A5):c.43_45dup (p.Gly15dup)
|
rs1554085901
|
|
NM_003060.4(SLC22A5):c.447C>G (p.Phe149Leu)
|
rs780989844
|
|
NM_003060.4(SLC22A5):c.44G>A (p.Gly15Glu)
|
rs751129547
|
|
NM_003060.4(SLC22A5):c.451G>T (p.Val151Leu)
|
rs386134193
|
|
NM_003060.4(SLC22A5):c.461T>C (p.Leu154Pro)
|
rs1752227681
|
|
NM_003060.4(SLC22A5):c.470C>A (p.Ser157Tyr)
|
rs759925126
|
|
NM_003060.4(SLC22A5):c.470C>T (p.Ser157Phe)
|
rs759925126
|
|
NM_003060.4(SLC22A5):c.474_476dup (p.Ile159dup)
|
rs2126775790
|
|
NM_003060.4(SLC22A5):c.475A>C (p.Ile159Leu)
|
|
|
NM_003060.4(SLC22A5):c.476T>C (p.Ile159Thr)
|
|
|
NM_003060.4(SLC22A5):c.496A>G (p.Arg166Gly)
|
|
|
NM_003060.4(SLC22A5):c.497+5G>T
|
|
|
NM_003060.4(SLC22A5):c.4C>G (p.Arg2Gly)
|
rs762330138
|
|
NM_003060.4(SLC22A5):c.514G>A (p.Val172Met)
|
rs558978831
|
|
NM_003060.4(SLC22A5):c.518T>C (p.Leu173Pro)
|
rs1752441594
|
|
NM_003060.4(SLC22A5):c.52C>G (p.Gln18Glu)
|
rs2126764773
|
|
NM_003060.4(SLC22A5):c.535A>T (p.Met179Leu)
|
rs386134196
|
|
NM_003060.4(SLC22A5):c.538C>G (p.Gln180Glu)
|
rs1437174685
|
|
NM_003060.4(SLC22A5):c.53A>G (p.Gln18Arg)
|
rs2126764776
|
|
NM_003060.4(SLC22A5):c.544G>T (p.Gly182Cys)
|
|
|
NM_003060.4(SLC22A5):c.55C>A (p.Arg19Ser)
|
rs1319889867
|
|
NM_003060.4(SLC22A5):c.565T>C (p.Phe189Leu)
|
|
|
NM_003060.4(SLC22A5):c.56G>C (p.Arg19Pro)
|
rs72552723
|
|
NM_003060.4(SLC22A5):c.575A>G (p.Asn192Ser)
|
|
|
NM_003060.4(SLC22A5):c.589G>T (p.Val197Phe)
|
|
|
NM_003060.4(SLC22A5):c.592G>T (p.Val198Leu)
|
rs757979350
|
|
NM_003060.4(SLC22A5):c.596T>C (p.Leu199Pro)
|
rs1752446862
|
|
NM_003060.4(SLC22A5):c.5G>C (p.Arg2Pro)
|
|
|
NM_003060.4(SLC22A5):c.602T>C (p.Val201Ala)
|
|
|
NM_003060.4(SLC22A5):c.608T>C (p.Val203Ala)
|
|
|
NM_003060.4(SLC22A5):c.614T>A (p.Met205Lys)
|
rs796052033
|
|
NM_003060.4(SLC22A5):c.635T>C (p.Val212Ala)
|
rs1580884645
|
|
NM_003060.4(SLC22A5):c.641C>T (p.Ala214Val)
|
rs386134199
|
|
NM_003060.4(SLC22A5):c.646G>C (p.Val216Leu)
|
|
|
NM_003060.4(SLC22A5):c.646G>T (p.Val216Phe)
|
rs1752450375
|
|
NM_003060.4(SLC22A5):c.656C>T (p.Thr219Ile)
|
rs2126783561
|
|
NM_003060.4(SLC22A5):c.671A>T (p.Lys224Met)
|
|
|
NM_003060.4(SLC22A5):c.685A>C (p.Ile229Leu)
|
|
|
NM_003060.4(SLC22A5):c.686T>C (p.Ile229Thr)
|
|
|
NM_003060.4(SLC22A5):c.687_689del (p.Phe230del)
|
rs1173523095
|
|
NM_003060.4(SLC22A5):c.692C>G (p.Ser231Cys)
|
rs386134206
|
|
NM_003060.4(SLC22A5):c.693T>C (p.Ser231=)
|
rs2126783662
|
|
NM_003060.4(SLC22A5):c.700G>C (p.Gly234Arg)
|
|
|
NM_003060.4(SLC22A5):c.704T>C (p.Val235Ala)
|
rs796052034
|
|
NM_003060.4(SLC22A5):c.704T>G (p.Val235Gly)
|
rs796052034
|
|
NM_003060.4(SLC22A5):c.706T>A (p.Cys236Ser)
|
|
|
NM_003060.4(SLC22A5):c.707_708delinsTT (p.Cys236Phe)
|
rs2126783727
|
|
NM_003060.4(SLC22A5):c.725G>T (p.Gly242Val)
|
rs72552728
|
|
NM_003060.4(SLC22A5):c.730A>T (p.Met244Leu)
|
|
|
NM_003060.4(SLC22A5):c.733G>A (p.Val245Met)
|
|
|
NM_003060.4(SLC22A5):c.754T>C (p.Phe252Leu)
|
rs1317233708
|
|
NM_003060.4(SLC22A5):c.760C>A (p.Arg254=)
|
rs121908893
|
|
NM_003060.4(SLC22A5):c.76A>G (p.Ser26Gly)
|
rs1751828398
|
|
NM_003060.4(SLC22A5):c.773T>C (p.Met258Thr)
|
rs1430095203
|
|
NM_003060.4(SLC22A5):c.788T>G (p.Leu263Arg)
|
rs1400244280
|
|
NM_003060.4(SLC22A5):c.794T>G (p.Met265Arg)
|
rs1752495086
|
|
NM_003060.4(SLC22A5):c.797C>T (p.Pro266Leu)
|
rs538372785
|
|
NM_003060.4(SLC22A5):c.79G>A (p.Ala27Thr)
|
|
|
NM_003060.4(SLC22A5):c.800G>A (p.Gly267Glu)
|
rs775430253
|
|
NM_003060.4(SLC22A5):c.800G>C (p.Gly267Ala)
|
|
|
NM_003060.4(SLC22A5):c.802G>A (p.Val268Met)
|
|
|
NM_003060.4(SLC22A5):c.815C>T (p.Ala272Val)
|
|
|
NM_003060.4(SLC22A5):c.825-8_825-6dup
|
rs1752553572
|
|
NM_003060.4(SLC22A5):c.833C>T (p.Pro278Leu)
|
|
|
NM_003060.4(SLC22A5):c.836A>T (p.Glu279Val)
|
rs2126785898
|
|
NM_003060.4(SLC22A5):c.842C>T (p.Pro281Leu)
|
rs1064793269
|
|
NM_003060.4(SLC22A5):c.84C>G (p.Ser28Arg)
|
|
|
NM_003060.4(SLC22A5):c.854T>A (p.Ile285Asn)
|
rs1752556276
|
|
NM_003060.4(SLC22A5):c.856T>C (p.Ser286Pro)
|
rs1752556458
|
|
NM_003060.4(SLC22A5):c.861G>C (p.Gln287His)
|
rs1182361371
|
|
NM_003060.4(SLC22A5):c.865_867del (p.Arg289del)
|
rs1554087707
|
|
NM_003060.4(SLC22A5):c.866G>A (p.Arg289Gln)
|
rs756260416
|
|
NM_003060.4(SLC22A5):c.867A>G (p.Arg289=)
|
rs2126786031
|
|
NM_003060.4(SLC22A5):c.872A>G (p.Glu291Gly)
|
rs2126786042
|
|
NM_003060.4(SLC22A5):c.883G>A (p.Val295Met)
|
rs2126786073
|
|
NM_003060.4(SLC22A5):c.888C>G (p.Ile296Met)
|
rs2126786080
|
|
NM_003060.4(SLC22A5):c.892C>G (p.Arg298Gly)
|
|
|
NM_003060.4(SLC22A5):c.893G>A (p.Arg298His)
|
rs747835354
|
|
NM_003060.4(SLC22A5):c.893G>T (p.Arg298Leu)
|
rs747835354
|
|
NM_003060.4(SLC22A5):c.898G>A (p.Ala300Thr)
|
rs1752558842
|
|
NM_003060.4(SLC22A5):c.902C>G (p.Ala301Gly)
|
|
|
NM_003060.4(SLC22A5):c.922G>A (p.Val308Met)
|
rs1752559686
|
|
NM_003060.4(SLC22A5):c.929C>T (p.Ser310Phe)
|
rs368926084
|
|
NM_003060.4(SLC22A5):c.932C>T (p.Thr311Ile)
|
rs770408585
|
|
NM_003060.4(SLC22A5):c.939T>A (p.Phe313Leu)
|
rs1554087737
|
|
NM_003060.4(SLC22A5):c.951+3A>C
|
rs2126786209
|
|
NM_003060.4(SLC22A5):c.951+5G>C
|
rs1752561167
|
|
NM_003060.4(SLC22A5):c.962T>G (p.Leu321Arg)
|
rs1752616522
|
|
NM_003060.4(SLC22A5):c.964A>G (p.Ser322Gly)
|
rs1561574065
|
|
NM_003060.4(SLC22A5):c.967T>C (p.Ser323Pro)
|
rs1561574073
|
|
NM_003060.4(SLC22A5):c.968C>T (p.Ser323Phe)
|
rs2126788019
|
|
NM_003060.4(SLC22A5):c.971A>G (p.Lys324Arg)
|
|
|
NM_003060.4(SLC22A5):c.976C>A (p.Gln326Lys)
|
rs1047810495
|
|
NM_003060.4(SLC22A5):c.976C>G (p.Gln326Glu)
|
rs1047810495
|
|
NM_003060.4(SLC22A5):c.980A>C (p.Gln327Pro)
|
rs886059908
|
|
NM_003060.4(SLC22A5):c.990_1016del (p.Leu332_Ile340del)
|
rs1561574113
|
|
NM_003124.5(SPR):c.*233G>A
|
rs1670625602
|
|
NM_003124.5(SPR):c.*377G>A
|
rs912605707
|
|
NM_003124.5(SPR):c.*597C>A
|
rs886056291
|
|
NM_003124.5(SPR):c.106G>A (p.Val36Met)
|
rs869312688
|
|
NM_003124.5(SPR):c.10G>A (p.Gly4Arg)
|
rs2105239914
|
|
NM_003124.5(SPR):c.120C>T (p.Ser40=)
|
rs1450742178
|
|
NM_003124.5(SPR):c.28T>C (p.Cys10Arg)
|
|
|
NM_003124.5(SPR):c.291_293del (p.Ile98del)
|
rs1559048107
|
|
NM_003124.5(SPR):c.307T>C (p.Ser103Pro)
|
|
|
NM_003124.5(SPR):c.308C>G (p.Ser103Cys)
|
rs748740519
|
|
NM_003124.5(SPR):c.370T>C (p.Trp124Arg)
|
|
|
NM_003124.5(SPR):c.40G>C (p.Gly14Arg)
|
|
|
NM_003124.5(SPR):c.477T>C (p.Cys159=)
|
rs1670575187
|
|
NM_003124.5(SPR):c.497G>A (p.Gly166Asp)
|
rs1404932614
|
|
NM_003124.5(SPR):c.556C>G (p.Leu186Val)
|
rs1670577308
|
|
NM_003124.5(SPR):c.57C>G (p.Phe19Leu)
|
rs774659668
|
|
NM_003124.5(SPR):c.595+7G>A
|
rs1670578079
|
|
NM_003124.5(SPR):c.596-4C>G
|
rs775183662
|
|
NM_003124.5(SPR):c.616C>T (p.Gln206Ter)
|
|
|
NM_003124.5(SPR):c.80T>C (p.Leu27Pro)
|
rs1559047972
|
|
NM_003124.5(SPR):c.87G>C (p.Ser29=)
|
rs886056287
|
|
NM_003322.6(TULP1):c.*272C>G
|
rs1231614922
|
|
NM_003322.6(TULP1):c.*278C>T
|
rs886061335
|
|
NM_003322.6(TULP1):c.*31C>T
|
rs886061336
|
|
NM_003322.6(TULP1):c.1016G>A (p.Gly339Asp)
|
rs1761069157
|
|
NM_003322.6(TULP1):c.1087G>A (p.Gly363Arg)
|
rs1761067394
|
|
NM_003322.6(TULP1):c.1113-9_1113delinsCATC
|
rs2150924300
|
|
NM_003322.6(TULP1):c.1495+6T>C
|
rs1213236285
|
|
NM_003322.6(TULP1):c.1612A>C (p.Lys538Gln)
|
rs1768748235
|
|
NM_003322.6(TULP1):c.224C>T (p.Ser75Phe)
|
rs1244588827
|
|
NM_003322.6(TULP1):c.26G>A (p.Arg9Gln)
|
rs886061338
|
|
NM_003322.6(TULP1):c.477G>C (p.Arg159Ser)
|
rs749882966
|
|
NM_003322.6(TULP1):c.5C>A (p.Pro2His)
|
rs1174952138
|
|
NM_003322.6(TULP1):c.647C>T (p.Ala216Val)
|
rs754221623
|
|
NM_003322.6(TULP1):c.846G>A (p.Pro282=)
|
rs149980694
|
|
NM_003322.6(TULP1):c.890G>C (p.Arg297Pro)
|
rs777674253
|
|
NM_003611.3(OFD1):c.1478T>C (p.Ile493Thr)
|
rs2147032761
|
|
NM_003611.3(OFD1):c.1589C>G (p.Ala530Gly)
|
rs2047794483
|
|
NM_003611.3(OFD1):c.2336G>A (p.Arg779Lys)
|
|
|
NM_003748.3(ALDH4A1):c.-174dup
|
rs551988232
|
|
NM_003748.4(ALDH4A1):c.*12del
|
rs774289867
|
|
NM_003748.4(ALDH4A1):c.*210C>A
|
rs886045705
|
|
NM_003748.4(ALDH4A1):c.*776C>T
|
rs1034579513
|
|
NM_003748.4(ALDH4A1):c.1048G>T (p.Ala350Ser)
|
|
|
NM_003748.4(ALDH4A1):c.1060C>T (p.Leu354Phe)
|
rs766376495
|
|
NM_003748.4(ALDH4A1):c.1070C>T (p.Pro357Leu)
|
rs758300845
|
|
NM_003748.4(ALDH4A1):c.1085C>A (p.Pro362Gln)
|
|
|
NM_003748.4(ALDH4A1):c.1086G>C (p.Pro362=)
|
rs41310410
|
|
NM_003748.4(ALDH4A1):c.1093A>C (p.Lys365Gln)
|
rs770756077
|
|
NM_003748.4(ALDH4A1):c.1099C>T (p.Arg367Trp)
|
rs562344368
|
|
NM_003748.4(ALDH4A1):c.1134C>T (p.Gly378=)
|
|
|
NM_003748.4(ALDH4A1):c.1196G>A (p.Arg399His)
|
rs749555399
|
|
NM_003748.4(ALDH4A1):c.1212G>A (p.Leu404=)
|
rs1934687903
|
|
NM_003748.4(ALDH4A1):c.1219G>T (p.Ala407Ser)
|
|
|
NM_003748.4(ALDH4A1):c.1236C>A (p.Ser412Arg)
|
|
|
NM_003748.4(ALDH4A1):c.1236C>G (p.Ser412Arg)
|
rs201762741
|
|
NM_003748.4(ALDH4A1):c.1265A>G (p.Asp422Gly)
|
|
|
NM_003748.4(ALDH4A1):c.12_17del (p.4PA[1])
|
rs768891033
|
|
NM_003748.4(ALDH4A1):c.1314C>A (p.Asp438Glu)
|
rs1330438587
|
|
NM_003748.4(ALDH4A1):c.1348G>A (p.Gly450Arg)
|
rs1156594126
|
|
NM_003748.4(ALDH4A1):c.1379_1380delinsGC (p.Asp460Gly)
|
|
|
NM_003748.4(ALDH4A1):c.1435A>T (p.Thr479Ser)
|
rs2100553228
|
|
NM_003748.4(ALDH4A1):c.1460+15C>T
|
rs371777923
|
|
NM_003748.4(ALDH4A1):c.1504G>A (p.Gly502Ser)
|
rs766982473
|
|
NM_003748.4(ALDH4A1):c.1547G>A (p.Gly516Asp)
|
|
|
NM_003748.4(ALDH4A1):c.156+6G>A
|
|
|
NM_003748.4(ALDH4A1):c.1571G>A (p.Arg524Gln)
|
|
|
NM_003748.4(ALDH4A1):c.1596del (p.Gly534fs)
|
rs2100546996
|
|
NM_003748.4(ALDH4A1):c.1618C>T (p.Arg540Cys)
|
|
|
NM_003748.4(ALDH4A1):c.1624A>G (p.Thr542Ala)
|
rs1934507704
|
|
NM_003748.4(ALDH4A1):c.1678G>A (p.Ala560Thr)
|
rs776207072
|
|
NM_003748.4(ALDH4A1):c.1681T>A (p.Tyr561Asn)
|
rs528211463
|
|
NM_003748.4(ALDH4A1):c.198C>T (p.Cys66=)
|
rs1469638231
|
|
NM_003748.4(ALDH4A1):c.1A>G (p.Met1Val)
|
|
|
NM_003748.4(ALDH4A1):c.239A>G (p.Tyr80Cys)
|
|
|
NM_003748.4(ALDH4A1):c.250-6T>A
|
rs1935208824
|
|
NM_003748.4(ALDH4A1):c.341A>C (p.Lys114Thr)
|
rs1389602525
|
|
NM_003748.4(ALDH4A1):c.353T>C (p.Leu118Pro)
|
|
|
NM_003748.4(ALDH4A1):c.377A>G (p.Gln126Arg)
|
rs1935165464
|
|
NM_003748.4(ALDH4A1):c.397G>T (p.Asp133Tyr)
|
rs1935164061
|
|
NM_003748.4(ALDH4A1):c.416G>T (p.Arg139Leu)
|
rs368241243
|
|
NM_003748.4(ALDH4A1):c.43C>G (p.Arg15Gly)
|
rs2100625391
|
|
NM_003748.4(ALDH4A1):c.43C>T (p.Arg15Cys)
|
|
|
NM_003748.4(ALDH4A1):c.446T>A (p.Val149Glu)
|
rs886045706
|
|
NM_003748.4(ALDH4A1):c.479T>C (p.Ile160Thr)
|
|
|
NM_003748.4(ALDH4A1):c.514T>C (p.Phe172Leu)
|
|
|
NM_003748.4(ALDH4A1):c.596G>C (p.Gly199Ala)
|
|
|
NM_003748.4(ALDH4A1):c.59C>A (p.Ala20Asp)
|
rs1935834310
|
|
NM_003748.4(ALDH4A1):c.658G>C (p.Ala220Pro)
|
rs778113718
|
|
NM_003748.4(ALDH4A1):c.712G>A (p.Ala238Thr)
|
|
|
NM_003748.4(ALDH4A1):c.740G>A (p.Arg247His)
|
rs558761793
|
|
NM_003748.4(ALDH4A1):c.800C>A (p.Pro267His)
|
rs141843191
|
|
NM_003748.4(ALDH4A1):c.842G>T (p.Gly281Val)
|
rs1934975074
|
|
NM_003748.4(ALDH4A1):c.866+1G>A
|
rs78532707
|
|
NM_003748.4(ALDH4A1):c.994G>A (p.Val332Met)
|
rs767652523
|
|
NM_003982.4(SLC7A7):c.*114C>T
|
rs2038516120
|
|
NM_003982.4(SLC7A7):c.*205A>C
|
rs574414124
|
|
NM_003982.4(SLC7A7):c.*246G>C
|
rs886050404
|
|
NM_003982.4(SLC7A7):c.*323_*326dup
|
rs886050403
|
|
NM_003982.4(SLC7A7):c.-43+11G>A
|
rs1455158611
|
|
NM_003982.4(SLC7A7):c.1003T>G (p.Phe335Val)
|
rs2139387225
|
|
NM_003982.4(SLC7A7):c.1004T>C (p.Phe335Ser)
|
rs11568424
|
|
NM_003982.4(SLC7A7):c.1013G>A (p.Gly338Asp)
|
rs386833795
|
|
NM_003982.4(SLC7A7):c.1024G>A (p.Gly342Ser)
|
|
|
NM_003982.4(SLC7A7):c.1027C>T (p.His343Tyr)
|
|
|
NM_003982.4(SLC7A7):c.1030C>G (p.Leu344Val)
|
|
|
NM_003982.4(SLC7A7):c.1056T>C (p.His352=)
|
rs1490713694
|
|
NM_003982.4(SLC7A7):c.1063C>T (p.Arg355Trp)
|
|
|
NM_003982.4(SLC7A7):c.1094A>G (p.Asn365Ser)
|
|
|
NM_003982.4(SLC7A7):c.1095+5G>C
|
rs2038581784
|
|
NM_003982.4(SLC7A7):c.1095+6T>C
|
rs531862402
|
|
NM_003982.4(SLC7A7):c.1096G>A (p.Gly366Ser)
|
rs2038556827
|
|
NM_003982.4(SLC7A7):c.1103T>C (p.Met368Thr)
|
|
|
NM_003982.4(SLC7A7):c.1110G>C (p.Leu370Phe)
|
rs1267303478
|
|
NM_003982.4(SLC7A7):c.1112T>C (p.Ile371Thr)
|
rs1555320506
|
|
NM_003982.4(SLC7A7):c.1130A>G (p.Asp377Gly)
|
|
|
NM_003982.4(SLC7A7):c.1136T>G (p.Phe379Cys)
|
rs1160393188
|
|
NM_003982.4(SLC7A7):c.1150T>C (p.Tyr384His)
|
rs2038553835
|
|
NM_003982.4(SLC7A7):c.1156A>T (p.Ser386Cys)
|
rs2038553443
|
|
NM_003982.4(SLC7A7):c.1184T>A (p.Leu395His)
|
rs886050405
|
|
NM_003982.4(SLC7A7):c.1184T>C (p.Leu395Pro)
|
rs886050405
|
|
NM_003982.4(SLC7A7):c.118C>T (p.Leu40Phe)
|
rs2138663742
|
|
NM_003982.4(SLC7A7):c.1208T>G (p.Leu403Arg)
|
|
|
NM_003982.4(SLC7A7):c.1211G>A (p.Arg404His)
|
rs201305817
|
|
NM_003982.4(SLC7A7):c.1215G>T (p.Trp405Cys)
|
rs1479668615
|
|
NM_003982.4(SLC7A7):c.1225G>C (p.Asp409His)
|
rs2038550517
|
|
NM_003982.4(SLC7A7):c.1235G>A (p.Arg412His)
|
|
|
NM_003982.4(SLC7A7):c.1243A>G (p.Lys415Glu)
|
|
|
NM_003982.4(SLC7A7):c.1245+6G>A
|
rs2139384181
|
|
NM_003982.4(SLC7A7):c.1263G>A (p.Pro421=)
|
rs1043886041
|
|
NM_003982.4(SLC7A7):c.1263G>C (p.Pro421=)
|
|
|
NM_003982.4(SLC7A7):c.1265T>G (p.Ile422Ser)
|
rs2139383586
|
|
NM_003982.4(SLC7A7):c.1266T>G (p.Ile422Met)
|
rs1594942768
|
|
NM_003982.4(SLC7A7):c.1271T>C (p.Phe424Ser)
|
rs2139383531
|
|
NM_003982.4(SLC7A7):c.1273T>C (p.Cys425Arg)
|
rs386833802
|
|
NM_003982.4(SLC7A7):c.127G>A (p.Val43Met)
|
|
|
NM_003982.4(SLC7A7):c.1282A>G (p.Thr428Ala)
|
rs1219626541
|
|
NM_003982.4(SLC7A7):c.1288T>G (p.Phe430Val)
|
|
|
NM_003982.4(SLC7A7):c.1316A>G (p.Asp439Gly)
|
|
|
NM_003982.4(SLC7A7):c.1321A>G (p.Ile441Val)
|
|
|
NM_003982.4(SLC7A7):c.1322T>G (p.Ile441Ser)
|
|
|
NM_003982.4(SLC7A7):c.1330C>T (p.Leu444Phe)
|
|
|
NM_003982.4(SLC7A7):c.1333A>G (p.Ile445Val)
|
rs764231324
|
|
NM_003982.4(SLC7A7):c.1336G>A (p.Gly446Ser)
|
|
|
NM_003982.4(SLC7A7):c.1345A>G (p.Ile449Val)
|
|
|
NM_003982.4(SLC7A7):c.1376TCA[2] (p.Ile461del)
|
rs759301639
|
|
NM_003982.4(SLC7A7):c.1376TCA[4] (p.Ile461dup)
|
rs759301639
|
|
NM_003982.4(SLC7A7):c.1388T>A (p.Val463Glu)
|
|
|
NM_003982.4(SLC7A7):c.1406C>G (p.Pro469Arg)
|
|
|
NM_003982.4(SLC7A7):c.1414C>T (p.Leu472Phe)
|
|
|
NM_003982.4(SLC7A7):c.1424T>C (p.Ile475Thr)
|
|
|
NM_003982.4(SLC7A7):c.1430-20A>G
|
rs2139382380
|
|
NM_003982.4(SLC7A7):c.1430-4G>A
|
rs2038527445
|
|
NM_003982.4(SLC7A7):c.1430-8_1430-7del
|
|
|
NM_003982.4(SLC7A7):c.1436C>G (p.Ala479Gly)
|
rs757095799
|
|
NM_003982.4(SLC7A7):c.1443G>T (p.Arg481Ser)
|
|
|
NM_003982.4(SLC7A7):c.1453G>A (p.Val485Ile)
|
rs2139382220
|
|
NM_003982.4(SLC7A7):c.1481T>C (p.Met494Thr)
|
rs1594941942
|
|
NM_003982.4(SLC7A7):c.1489G>A (p.Glu497Lys)
|
|
|
NM_003982.4(SLC7A7):c.1507_1517del (p.Pro503fs)
|
rs777950149
|
|
NM_003982.4(SLC7A7):c.1516C>T (p.Arg506Trp)
|
|
|
NM_003982.4(SLC7A7):c.1520A>G (p.Asp507Gly)
|
rs1055499594
|
|
NM_003982.4(SLC7A7):c.154G>A (p.Gly52Ser)
|
|
|
NM_003982.4(SLC7A7):c.16G>A (p.Glu6Lys)
|
rs2039354125
|
|
NM_003982.4(SLC7A7):c.181G>A (p.Gly61Ser)
|
|
|
NM_003982.4(SLC7A7):c.187C>T (p.Leu63Phe)
|
rs2039348270
|
|
NM_003982.4(SLC7A7):c.191T>C (p.Ile64Thr)
|
rs2138663343
|
|
NM_003982.4(SLC7A7):c.196A>G (p.Ser66Gly)
|
|
|
NM_003982.4(SLC7A7):c.248C>A (p.Ser83Tyr)
|
|
|
NM_003982.4(SLC7A7):c.25G>A (p.Val9Met)
|
rs1594986371
|
|
NM_003982.4(SLC7A7):c.269A>G (p.Tyr90Cys)
|
rs375791337
|
|
NM_003982.4(SLC7A7):c.272C>A (p.Ala91Glu)
|
rs11568438
|
|
NM_003982.4(SLC7A7):c.286A>G (p.Thr96Ala)
|
rs1594985650
|
|
NM_003982.4(SLC7A7):c.297A>C (p.Lys99Asn)
|
rs761270703
|
|
NM_003982.4(SLC7A7):c.29C>T (p.Ala10Val)
|
|
|
NM_003982.4(SLC7A7):c.337G>A (p.Gly113Arg)
|
rs2039343325
|
|
NM_003982.4(SLC7A7):c.352A>T (p.Ile118Phe)
|
rs750589845
|
|
NM_003982.4(SLC7A7):c.360_361delinsAA (p.Trp121Arg)
|
rs1064797037
|
|
NM_003982.4(SLC7A7):c.406G>A (p.Ala136Thr)
|
|
|
NM_003982.4(SLC7A7):c.40G>A (p.Glu14Lys)
|
rs2138664158
|
|
NM_003982.4(SLC7A7):c.421A>T (p.Asn141Tyr)
|
|
|
NM_003982.4(SLC7A7):c.422A>G (p.Asn141Ser)
|
|
|
NM_003982.4(SLC7A7):c.428T>C (p.Met143Thr)
|
|
|
NM_003982.4(SLC7A7):c.430G>C (p.Val144Leu)
|
|
|
NM_003982.4(SLC7A7):c.437C>T (p.Pro146Leu)
|
rs2039338903
|
|
NM_003982.4(SLC7A7):c.442T>C (p.Phe148Leu)
|
rs2138661871
|
|
NM_003982.4(SLC7A7):c.446C>T (p.Pro149Leu)
|
rs796145994
|
|
NM_003982.4(SLC7A7):c.460C>G (p.Pro154Ala)
|
|
|
NM_003982.4(SLC7A7):c.469G>C (p.Ala157Pro)
|
rs2039337757
|
|
NM_003982.4(SLC7A7):c.472A>G (p.Ser158Gly)
|
|
|
NM_003982.4(SLC7A7):c.487G>T (p.Ala163Ser)
|
rs866437643
|
|
NM_003982.4(SLC7A7):c.499+9G>C
|
rs893853391
|
|
NM_003982.4(SLC7A7):c.500G>C (p.Cys167Ser)
|
|
|
NM_003982.4(SLC7A7):c.554A>G (p.Asp185Gly)
|
rs2139397401
|
|
NM_003982.4(SLC7A7):c.55C>A (p.Pro19Thr)
|
|
|
NM_003982.4(SLC7A7):c.580G>A (p.Ala194Thr)
|
|
|
NM_003982.4(SLC7A7):c.591G>A (p.Ala197=)
|
rs750720946
|
|
NM_003982.4(SLC7A7):c.598G>A (p.Val200Ile)
|
|
|
NM_003982.4(SLC7A7):c.602C>T (p.Ala201Val)
|
rs1240082554
|
|
NM_003982.4(SLC7A7):c.605G>A (p.Gly202Asp)
|
|
|
NM_003982.4(SLC7A7):c.606C>T (p.Gly202=)
|
|
|
NM_003982.4(SLC7A7):c.625+5G>T
|
rs2038685896
|
|
NM_003982.4(SLC7A7):c.632C>G (p.Ser211Cys)
|
rs1022076011
|
|
NM_003982.4(SLC7A7):c.656A>T (p.Glu219Val)
|
|
|
NM_003982.4(SLC7A7):c.658G>C (p.Gly220Arg)
|
rs1488108533
|
|
NM_003982.4(SLC7A7):c.659G>A (p.Gly220Asp)
|
rs2038666045
|
|
NM_003982.4(SLC7A7):c.683T>C (p.Ile228Thr)
|
|
|
NM_003982.4(SLC7A7):c.704C>T (p.Ala235Val)
|
rs755663586
|
|
NM_003982.4(SLC7A7):c.737A>G (p.Asn246Ser)
|
|
|
NM_003982.4(SLC7A7):c.746C>T (p.Thr249Ile)
|
rs2139394765
|
|
NM_003982.4(SLC7A7):c.748G>A (p.Glu250Lys)
|
rs1225308034
|
|
NM_003982.4(SLC7A7):c.755T>A (p.Ile252Asn)
|
rs760849909
|
|
NM_003982.4(SLC7A7):c.760A>C (p.Asn254His)
|
rs2038663013
|
|
NM_003982.4(SLC7A7):c.770+9T>G
|
rs2038662345
|
|
NM_003982.4(SLC7A7):c.778C>T (p.Pro260Ser)
|
rs773808071
|
|
NM_003982.4(SLC7A7):c.779C>T (p.Pro260Leu)
|
|
|
NM_003982.4(SLC7A7):c.781C>T (p.Leu261Phe)
|
rs2038606088
|
|
NM_003982.4(SLC7A7):c.805A>G (p.Ile269Val)
|
|
|
NM_003982.4(SLC7A7):c.833A>T (p.Asn278Ile)
|
|
|
NM_003982.4(SLC7A7):c.83C>T (p.Pro28Leu)
|
|
|
NM_003982.4(SLC7A7):c.841T>C (p.Tyr281His)
|
rs2139388993
|
|
NM_003982.4(SLC7A7):c.844T>C (p.Tyr282His)
|
|
|
NM_003982.4(SLC7A7):c.854T>C (p.Leu285Pro)
|
|
|
NM_003982.4(SLC7A7):c.861G>A (p.Met287Ile)
|
|
|
NM_003982.4(SLC7A7):c.883G>C (p.Ala295Pro)
|
rs765772581
|
|
NM_003982.4(SLC7A7):c.886G>A (p.Val296Ile)
|
|
|
NM_003982.4(SLC7A7):c.896C>G (p.Thr299Ser)
|
rs1409622896
|
|
NM_003982.4(SLC7A7):c.911T>A (p.Ile304Lys)
|
rs1277218486
|
|
NM_003982.4(SLC7A7):c.928T>A (p.Trp310Arg)
|
|
|
NM_003982.4(SLC7A7):c.931A>G (p.Ile311Val)
|
rs539843065
|
|
NM_003982.4(SLC7A7):c.956C>T (p.Ser319Phe)
|
rs1156861166
|
|
NM_003982.4(SLC7A7):c.974A>G (p.Asn325Ser)
|
|
|
NM_003982.4(SLC7A7):c.98T>A (p.Leu33Gln)
|
|
|
NM_003982.4(SLC7A7):c.98T>C (p.Leu33Pro)
|
rs1040738469
|
|
NM_003982.4(SLC7A7):c.998+5G>A
|
rs554612459
|
|
NM_004113.6(FGF12):c.118G>C (p.Asp40His)
|
|
|
NM_004113.6(FGF12):c.125-3181A>G
|
rs1577367655
|
|
NM_004113.6(FGF12):c.14-47562G>A
|
|
|
NM_004113.6(FGF12):c.14-47649A>G
|
rs2108776132
|
|
NM_004113.6(FGF12):c.142C>T (p.Pro48Ser)
|
|
|
NM_004113.6(FGF12):c.145G>C (p.Val49Leu)
|
rs199832838
|
|
NM_004113.6(FGF12):c.491G>A (p.Ser164Asn)
|
rs2108576388
|
|
NM_004113.6(FGF12):c.83A>T (p.Asp28Val)
|
|
|
NM_004160.6(PYY):c.-463+2753G>A
|
|
|
NM_004170.6(SLC1A1):c.*111G>T
|
rs886063966
|
|
NM_004170.6(SLC1A1):c.*1154A>G
|
rs757041143
|
|
NM_004170.6(SLC1A1):c.*1228C>A
|
rs769887973
|
|
NM_004170.6(SLC1A1):c.*1344T>G
|
rs761981396
|
|
NM_004170.6(SLC1A1):c.*1485A>G
|
rs886063978
|
|
NM_004170.6(SLC1A1):c.*1621T>G
|
rs886063980
|
|
NM_004170.6(SLC1A1):c.*1812T>A
|
rs1310091369
|
|
NM_004170.6(SLC1A1):c.*567T>C
|
rs1821552878
|
|
NM_004170.6(SLC1A1):c.*570G>C
|
rs1821553075
|
|
NM_004170.6(SLC1A1):c.*591G>C
|
rs928340868
|
|
NM_004170.6(SLC1A1):c.*657AT[11]
|
rs3038452
|
|
NM_004170.6(SLC1A1):c.*671A>G
|
rs1586879835
|
|
NM_004170.6(SLC1A1):c.*828G>C
|
rs1586880214
|
|
NM_004170.6(SLC1A1):c.*842G>T
|
rs1821578643
|
|
NM_004170.6(SLC1A1):c.*987T>C
|
rs886063973
|
|
NM_004170.6(SLC1A1):c.-185G>C
|
rs542813803
|
|
NM_004170.6(SLC1A1):c.1194-1G>C
|
rs1443633162
|
|
NM_004170.6(SLC1A1):c.1254C>G (p.Thr418=)
|
rs886063965
|
|
NM_004170.6(SLC1A1):c.1302C>A (p.Thr434=)
|
rs151011035
|
|
NM_004170.6(SLC1A1):c.1521C>A (p.Gly507=)
|
rs748205874
|
|
NM_004170.6(SLC1A1):c.274C>A (p.Leu92Met)
|
rs17855568
|
|
NM_004170.6(SLC1A1):c.398C>A (p.Thr133Asn)
|
rs763282092
|
|
NM_004170.6(SLC1A1):c.472T>G (p.Cys158Gly)
|
rs1397256714
|
|
NM_004170.6(SLC1A1):c.73G>C (p.Val25Leu)
|
rs745861873
|
|
NM_004170.6(SLC1A1):c.875+8A>G
|
rs12682807
|
|
NM_004170.6(SLC1A1):c.91+10G>A
|
rs753091437
|
|
NM_004170.6(SLC1A1):c.944G>A (p.Arg315Gln)
|
rs745891601
|
|
NM_004171.4(SLC1A2):c.1003A>G (p.Ile335Val)
|
|
|
NM_004171.4(SLC1A2):c.1046C>T (p.Ala349Val)
|
rs1851035772
|
|
NM_004171.4(SLC1A2):c.1079G>C (p.Gly360Ala)
|
|
|
NM_004171.4(SLC1A2):c.1154_1155del (p.Val385fs)
|
|
|
NM_004171.4(SLC1A2):c.1295C>A (p.Ala432Asp)
|
|
|
NM_004171.4(SLC1A2):c.139C>G (p.Leu47Val)
|
rs1851917611
|
|
NM_004171.4(SLC1A2):c.1601C>A (p.Ser534Tyr)
|
|
|
NM_004171.4(SLC1A2):c.1639G>A (p.Val547Ile)
|
|
|
NM_004171.4(SLC1A2):c.1715G>A (p.Arg572His)
|
|
|
NM_004171.4(SLC1A2):c.193C>T (p.Arg65Cys)
|
rs1326870463
|
|
NM_004171.4(SLC1A2):c.236C>A (p.Ala79Asp)
|
|
|
NM_004171.4(SLC1A2):c.257T>A (p.Met86Lys)
|
|
|
NM_004171.4(SLC1A2):c.260G>A (p.Arg87Lys)
|
|
|
NM_004171.4(SLC1A2):c.304A>G (p.Ile102Val)
|
rs2134887083
|
|
NM_004171.4(SLC1A2):c.389T>C (p.Ile130Thr)
|
rs1851734643
|
|
NM_004171.4(SLC1A2):c.456G>C (p.Gln152His)
|
|
|
NM_004171.4(SLC1A2):c.469A>G (p.Lys157Glu)
|
rs1851730752
|
|
NM_004171.4(SLC1A2):c.555T>A (p.Phe185Leu)
|
rs751782700
|
|
NM_004171.4(SLC1A2):c.607G>A (p.Glu203Lys)
|
rs1400780690
|
|
NM_004171.4(SLC1A2):c.609G>C (p.Glu203Asp)
|
rs1851499526
|
|
NM_004171.4(SLC1A2):c.626G>A (p.Ser209Asn)
|
|
|
NM_004171.4(SLC1A2):c.758G>T (p.Gly253Val)
|
|
|
NM_004171.4(SLC1A2):c.777G>A (p.Met259Ile)
|
|
|
NM_004172.5(SLC1A3):c.*1229A>G
|
rs886060549
|
|
NM_004172.5(SLC1A3):c.*1533G>A
|
rs1742717006
|
|
NM_004172.5(SLC1A3):c.*440A>G
|
rs1742662690
|
|
NM_004172.5(SLC1A3):c.*955C>A
|
rs1742686704
|
|
NM_004172.5(SLC1A3):c.1188C>T (p.Thr396=)
|
rs1309265652
|
|
NM_004172.5(SLC1A3):c.1436G>A (p.Arg479Gln)
|
|
|
NM_004172.5(SLC1A3):c.209C>G (p.Pro70Arg)
|
rs767138995
|
|
NM_004172.5(SLC1A3):c.299T>C (p.Ile100Thr)
|
|
|
NM_004172.5(SLC1A3):c.542A>G (p.Asn181Ser)
|
rs768557336
|
|
NM_004172.5(SLC1A3):c.601G>A (p.Val201Met)
|
rs748235513
|
|
NM_004172.5(SLC1A3):c.625C>G (p.Leu209Val)
|
rs146815724
|
|
NM_004172.5(SLC1A3):c.674C>T (p.Thr225Ile)
|
|
|
NM_004172.5(SLC1A3):c.860+9T>C
|
rs886060543
|
|
NM_004172.5(SLC1A3):c.897G>C (p.Gly299=)
|
rs768627283
|
|
NM_004183.4(BEST1):c.-66G>T
|
rs886048425
|
|
NM_004183.4(BEST1):c.1067G>T (p.Arg356Leu)
|
rs751707411
|
|
NM_004183.4(BEST1):c.1157A>C (p.His386Pro)
|
rs886048427
|
|
NM_004183.4(BEST1):c.1583A>G (p.Glu528Gly)
|
rs757181644
|
|
NM_004183.4(BEST1):c.1681A>G (p.Thr561Ala)
|
rs281865283
|
|
NM_004183.4(BEST1):c.229C>A (p.Pro77Thr)
|
rs1941154059
|
|
NM_004183.4(BEST1):c.351G>A (p.Lys117=)
|
rs886048426
|
|
NM_004208.4(AIFM1):c.1084A>C (p.Lys362Gln)
|
|
|
NM_004279.3(PMPCB):c.122G>A (p.Arg41Lys)
|
|
|
NM_004279.3(PMPCB):c.136C>A (p.Gln46Lys)
|
|
|
NM_004279.3(PMPCB):c.150A>C (p.Gln50His)
|
rs762743960
|
|
NM_004279.3(PMPCB):c.19C>G (p.Arg7Gly)
|
|
|
NM_004279.3(PMPCB):c.355C>A (p.Leu119Met)
|
|
|
NM_004311.4(ARL3):c.269A>G (p.Tyr90Cys)
|
rs1564730440
|
|
NM_004311.4(ARL3):c.86G>T (p.Gly29Val)
|
rs2136008708
|
|
NM_004408.4(DNM1):c.1012G>A (p.Val338Ile)
|
|
|
NM_004408.4(DNM1):c.1021G>A (p.Glu341Lys)
|
|
|
NM_004408.4(DNM1):c.1054G>A (p.Asp352Asn)
|
rs148695604
|
|
NM_004408.4(DNM1):c.1061A>G (p.Tyr354Cys)
|
|
|
NM_004408.4(DNM1):c.1100A>C (p.His367Pro)
|
|
|
NM_004408.4(DNM1):c.1102G>A (p.Glu368Lys)
|
rs1835087040
|
|
NM_004408.4(DNM1):c.1116C>G (p.Phe372Leu)
|
rs367584321
|
|
NM_004408.4(DNM1):c.112G>A (p.Gly38Ser)
|
rs1131692025
|
|
NM_004408.4(DNM1):c.1138G>T (p.Asp380Tyr)
|
rs1835101754
|
|
NM_004408.4(DNM1):c.1153C>T (p.Arg385Ter)
|
rs1835102166
|
|
NM_004408.4(DNM1):c.1154G>A (p.Arg385Gln)
|
rs1428107171
|
|
NM_004408.4(DNM1):c.1180A>C (p.Asn394His)
|
rs1835103161
|
|
NM_004408.4(DNM1):c.1196+5G>A
|
rs1835103921
|
|
NM_004408.4(DNM1):c.1197-10G>A
|
|
|
NM_004408.4(DNM1):c.1197-7C>A
|
rs41306488
|
|
NM_004408.4(DNM1):c.119A>C (p.Gln40Pro)
|
rs2131061484
|
|
NM_004408.4(DNM1):c.11G>A (p.Arg4His)
|
|
|
NM_004408.4(DNM1):c.1246C>G (p.Gln416Glu)
|
rs866836375
|
|
NM_004408.4(DNM1):c.1283T>G (p.Val428Gly)
|
|
|
NM_004408.4(DNM1):c.1336-7T>G
|
rs550764968
|
|
NM_004408.4(DNM1):c.1345T>C (p.Tyr449His)
|
rs1835857400
|
|
NM_004408.4(DNM1):c.1351C>T (p.Arg451Trp)
|
|
|
NM_004408.4(DNM1):c.1352G>A (p.Arg451Gln)
|
|
|
NM_004408.4(DNM1):c.1357C>T (p.Arg453Trp)
|
rs368427334
|
|
NM_004408.4(DNM1):c.1358G>T (p.Arg453Leu)
|
rs750296552
|
|
NM_004408.4(DNM1):c.1371G>T (p.Glu457Asp)
|
rs1835858946
|
|
NM_004408.4(DNM1):c.1372C>T (p.Arg458Cys)
|
|
|
NM_004408.4(DNM1):c.1373G>A (p.Arg458His)
|
|
|
NM_004408.4(DNM1):c.1384A>G (p.Thr462Ala)
|
|
|
NM_004408.4(DNM1):c.13G>A (p.Gly5Ser)
|
rs759483040
|
|
NM_004408.4(DNM1):c.1404G>C (p.Glu468Asp)
|
|
|
NM_004408.4(DNM1):c.1422+5del
|
|
|
NM_004408.4(DNM1):c.1424T>C (p.Val475Ala)
|
|
|
NM_004408.4(DNM1):c.1493+20A>G
|
|
|
NM_004408.4(DNM1):c.1493+3G>C
|
|
|
NM_004408.4(DNM1):c.1493+5G>A
|
rs752004261
|
|
NM_004408.4(DNM1):c.1493+7G>A
|
|
|
NM_004408.4(DNM1):c.1518G>T (p.Met506Ile)
|
|
|
NM_004408.4(DNM1):c.1523AGA[2] (p.Lys510del)
|
rs763633863
|
|
NM_004408.4(DNM1):c.152T>C (p.Phe51Ser)
|
rs2131061694
|
|
NM_004408.4(DNM1):c.1535C>T (p.Ser512Leu)
|
rs867314420
|
|
NM_004408.4(DNM1):c.1545G>A (p.Gln515=)
|
|
|
NM_004408.4(DNM1):c.1557G>C (p.Leu519=)
|
|
|
NM_004408.4(DNM1):c.1565G>C (p.Arg522Pro)
|
|
|
NM_004408.4(DNM1):c.1571G>T (p.Gly524Val)
|
|
|
NM_004408.4(DNM1):c.161+5_161+6delinsTT
|
|
|
NM_004408.4(DNM1):c.1631T>C (p.Val544Ala)
|
|
|
NM_004408.4(DNM1):c.1646A>G (p.Asn549Ser)
|
rs2131262599
|
|
NM_004408.4(DNM1):c.1678G>C (p.Glu560Gln)
|
|
|
NM_004408.4(DNM1):c.1687T>C (p.Tyr563His)
|
|
|
NM_004408.4(DNM1):c.1690A>T (p.Met564Leu)
|
rs2131283540
|
|
NM_004408.4(DNM1):c.1718G>A (p.Arg573Gln)
|
|
|
NM_004408.4(DNM1):c.1723G>A (p.Val575Met)
|
rs748647924
|
|
NM_004408.4(DNM1):c.176G>A (p.Arg59Gln)
|
|
|
NM_004408.4(DNM1):c.1781+4C>A
|
|
|
NM_004408.4(DNM1):c.1781+5C>T
|
rs1836821115
|
|
NM_004408.4(DNM1):c.1782-3C>T
|
|
|
NM_004408.4(DNM1):c.1786G>A (p.Val596Ile)
|
rs1588449769
|
|
NM_004408.4(DNM1):c.1810G>A (p.Glu604Lys)
|
rs1588449811
|
|
NM_004408.4(DNM1):c.1867G>T (p.Ala623Ser)
|
|
|
NM_004408.4(DNM1):c.1872C>T (p.Gly624=)
|
rs1367619284
|
|
NM_004408.4(DNM1):c.1885C>T (p.Arg629Cys)
|
|
|
NM_004408.4(DNM1):c.1888G>A (p.Val630Ile)
|
rs1836896799
|
|
NM_004408.4(DNM1):c.1905A>G (p.Lys635=)
|
|
|
NM_004408.4(DNM1):c.1906-3C>T
|
|
|
NM_004408.4(DNM1):c.1918G>C (p.Glu640Gln)
|
|
|
NM_004408.4(DNM1):c.1918GAG[1] (p.Glu641del)
|
rs748362979
|
|
NM_004408.4(DNM1):c.1928G>A (p.Gly643Asp)
|
rs763245663
|
|
NM_004408.4(DNM1):c.1939T>C (p.Phe647Leu)
|
|
|
NM_004408.4(DNM1):c.194C>T (p.Thr65Ile)
|
rs2131148741
|
|
NM_004408.4(DNM1):c.197G>C (p.Arg66Pro)
|
|
|
NM_004408.4(DNM1):c.1987C>T (p.Arg663Trp)
|
|
|
NM_004408.4(DNM1):c.2015T>C (p.Ile672Thr)
|
|
|
NM_004408.4(DNM1):c.2028C>G (p.Thr676=)
|
rs1339784958
|
|
NM_004408.4(DNM1):c.2029G>C (p.Val677Leu)
|
|
|
NM_004408.4(DNM1):c.2043G>A (p.Met681Ile)
|
|
|
NM_004408.4(DNM1):c.2057T>C (p.Met686Thr)
|
|
|
NM_004408.4(DNM1):c.208G>A (p.Val70Ile)
|
|
|
NM_004408.4(DNM1):c.2121G>T (p.Ser707=)
|
|
|
NM_004408.4(DNM1):c.2128G>C (p.Asp710His)
|
rs2131297334
|
|
NM_004408.4(DNM1):c.2155G>T (p.Ala719Ser)
|
|
|
NM_004408.4(DNM1):c.2159A>G (p.Glu720Gly)
|
rs1588457823
|
|
NM_004408.4(DNM1):c.2164G>T (p.Ala722Ser)
|
|
|
NM_004408.4(DNM1):c.2170C>T (p.Arg724Trp)
|
|
|
NM_004408.4(DNM1):c.2171G>A (p.Arg724Gln)
|
rs1829428293
|
|
NM_004408.4(DNM1):c.2198A>G (p.His733Arg)
|
|
|
NM_004408.4(DNM1):c.2240C>A (p.Thr747Lys)
|
rs1829432262
|
|
NM_004408.4(DNM1):c.2240C>T (p.Thr747Met)
|
|
|
NM_004408.4(DNM1):c.224A>T (p.Asn75Ile)
|
|
|
NM_004408.4(DNM1):c.2251A>C (p.Ser751Arg)
|
|
|
NM_004408.4(DNM1):c.2253C>G (p.Ser751Arg)
|
rs754280238
|
|
NM_004408.4(DNM1):c.2261T>C (p.Met754Thr)
|
|
|
NM_004408.4(DNM1):c.2306C>G (p.Pro769Arg)
|
|
|
NM_004408.4(DNM1):c.2327C>A (p.Thr776Lys)
|
rs1490577876
|
|
NM_004408.4(DNM1):c.233C>A (p.Thr78Lys)
|
|
|
NM_004408.4(DNM1):c.2350C>G (p.Arg784Gly)
|
|
|
NM_004408.4(DNM1):c.2354C>T (p.Ala785Val)
|
|
|
NM_004408.4(DNM1):c.2356C>A (p.Pro786Thr)
|
rs2131299453
|
|
NM_004408.4(DNM1):c.2359G>A (p.Ala787Thr)
|
rs1286706539
|
|
NM_004408.4(DNM1):c.2375_2393del (p.Arg792fs)
|
|
|
NM_004408.4(DNM1):c.2389G>A (p.Gly797Ser)
|
rs1259228242
|
|
NM_004408.4(DNM1):c.2390G>T (p.Gly797Val)
|
rs1486970211
|
|
NM_004408.4(DNM1):c.2395G>A (p.Ala799Thr)
|
|
|
NM_004408.4(DNM1):c.2401G>A (p.Gly801Arg)
|
|
|
NM_004408.4(DNM1):c.2405C>T (p.Pro802Leu)
|
rs1829472592
|
|
NM_004408.4(DNM1):c.2434G>A (p.Ala812Thr)
|
|
|
NM_004408.4(DNM1):c.2455C>A (p.Pro819Thr)
|
|
|
NM_004408.4(DNM1):c.2469T>G (p.Pro823=)
|
|
|
NM_004408.4(DNM1):c.2474C>T (p.Pro825Leu)
|
rs1295591580
|
|
NM_004408.4(DNM1):c.2483C>T (p.Pro828Leu)
|
rs901408697
|
|
NM_004408.4(DNM1):c.2486C>T (p.Pro829Leu)
|
|
|
NM_004408.4(DNM1):c.2510A>C (p.Asn837Thr)
|
|
|
NM_004408.4(DNM1):c.2510A>G (p.Asn837Ser)
|
|
|
NM_004408.4(DNM1):c.2510A>T (p.Asn837Ile)
|
|
|
NM_004408.4(DNM1):c.2534+1dup
|
|
|
NM_004408.4(DNM1):c.2534G>A (p.Ser845Asn)
|
rs1829479381
|
|
NM_004408.4(DNM1):c.2535-1G>A
|
|
|
NM_004408.4(DNM1):c.2535-613C>T
|
rs1385389663
|
|
NM_004408.4(DNM1):c.2537G>C (p.Arg846Pro)
|
rs758567328
|
|
NM_004408.4(DNM1):c.2537G>T (p.Arg846Leu)
|
|
|
NM_004408.4(DNM1):c.2540C>A (p.Ser847Ter)
|
|
|
NM_004408.4(DNM1):c.2542G>A (p.Gly848Ser)
|
|
|
NM_004408.4(DNM1):c.2542_2559dup (p.Gly848_Ser853dup)
|
rs1564358652
|
|
NM_004408.4(DNM1):c.2566G>A (p.Glu856Lys)
|
|
|
NM_004408.4(DNM1):c.2576G>A (p.Arg859Lys)
|
|
|
NM_004408.4(DNM1):c.2581C>G (p.Pro861Ala)
|
|
|
NM_004408.4(DNM1):c.2582C>T (p.Pro861Leu)
|
rs187315526
|
|
NM_004408.4(DNM1):c.2584T>G (p.Phe862Val)
|
rs2131314418
|
|
NM_004408.4(DNM1):c.265A>G (p.Lys89Glu)
|
|
|
NM_004408.4(DNM1):c.284A>G (p.Glu95Gly)
|
rs1316212573
|
|
NM_004408.4(DNM1):c.285G>C (p.Glu95Asp)
|
|
|
NM_004408.4(DNM1):c.292C>T (p.Arg98Cys)
|
|
|
NM_004408.4(DNM1):c.2T>C (p.Met1Thr)
|
|
|
NM_004408.4(DNM1):c.33_34delinsAA (p.Leu12Met)
|
|
|
NM_004408.4(DNM1):c.350C>T (p.Pro117Leu)
|
rs776104715
|
|
NM_004408.4(DNM1):c.352G>A (p.Val118Met)
|
rs1834758362
|
|
NM_004408.4(DNM1):c.359_361dup (p.Ile120_Asn121insIle)
|
|
|
NM_004408.4(DNM1):c.383A>G (p.His128Arg)
|
rs368475266
|
|
NM_004408.4(DNM1):c.38T>C (p.Val13Ala)
|
rs969698049
|
|
NM_004408.4(DNM1):c.395T>G (p.Leu132Arg)
|
|
|
NM_004408.4(DNM1):c.402G>A (p.Leu134=)
|
rs777767122
|
|
NM_004408.4(DNM1):c.406G>A (p.Asp136Asn)
|
|
|
NM_004408.4(DNM1):c.416G>C (p.Gly139Ala)
|
|
|
NM_004408.4(DNM1):c.427G>C (p.Val143Leu)
|
rs1834788549
|
|
NM_004408.4(DNM1):c.43C>G (p.Arg15Gly)
|
rs1320569379
|
|
NM_004408.4(DNM1):c.457G>A (p.Glu153Lys)
|
rs1554772974
|
|
NM_004408.4(DNM1):c.470G>A (p.Arg157Gln)
|
rs2131152872
|
|
NM_004408.4(DNM1):c.535T>A (p.Ser179Thr)
|
|
|
NM_004408.4(DNM1):c.560T>C (p.Leu187Pro)
|
|
|
NM_004408.4(DNM1):c.578T>C (p.Val193Ala)
|
|
|
NM_004408.4(DNM1):c.582C>A (p.Asp194Glu)
|
|
|
NM_004408.4(DNM1):c.583C>A (p.Pro195Thr)
|
|
|
NM_004408.4(DNM1):c.588G>A (p.Gln196=)
|
rs1834794265
|
|
NM_004408.4(DNM1):c.589+4G>A
|
|
|
NM_004408.4(DNM1):c.589+4G>T
|
rs751407306
|
|
NM_004408.4(DNM1):c.589G>C (p.Gly197Arg)
|
|
|
NM_004408.4(DNM1):c.603C>G (p.Ile201Met)
|
|
|
NM_004408.4(DNM1):c.604G>T (p.Gly202Trp)
|
|
|
NM_004408.4(DNM1):c.643_646delinsA (p.Asp215_Ala216delinsThr)
|
rs1588355906
|
|
NM_004408.4(DNM1):c.646G>A (p.Ala216Thr)
|
|
|
NM_004408.4(DNM1):c.654T>G (p.Asp218Glu)
|
|
|
NM_004408.4(DNM1):c.676C>T (p.Pro226Ser)
|
|
|
NM_004408.4(DNM1):c.680T>G (p.Leu227Arg)
|
|
|
NM_004408.4(DNM1):c.682C>T (p.Arg228Cys)
|
rs1444380018
|
|
NM_004408.4(DNM1):c.685A>G (p.Arg229Gly)
|
rs1834851998
|
|
NM_004408.4(DNM1):c.689G>A (p.Gly230Asp)
|
rs1834860828
|
|
NM_004408.4(DNM1):c.694A>G (p.Ile232Val)
|
|
|
NM_004408.4(DNM1):c.703G>A (p.Val235Met)
|
rs2131157918
|
|
NM_004408.4(DNM1):c.718_720del (p.Lys240del)
|
|
|
NM_004408.4(DNM1):c.745A>G (p.Thr249Ala)
|
|
|
NM_004408.4(DNM1):c.767G>A (p.Arg256Gln)
|
|
|
NM_004408.4(DNM1):c.786T>A (p.His262Gln)
|
rs1376656660
|
|
NM_004408.4(DNM1):c.796C>A (p.Arg266Ser)
|
rs138053929
|
|
NM_004408.4(DNM1):c.811C>T (p.Arg271Cys)
|
rs1834865373
|
|
NM_004408.4(DNM1):c.821C>T (p.Thr274Met)
|
rs1284660372
|
|
NM_004408.4(DNM1):c.845A>G (p.Asn282Ser)
|
|
|
NM_004408.4(DNM1):c.889C>T (p.Arg297Trp)
|
|
|
NM_004408.4(DNM1):c.905G>A (p.Ser302Asn)
|
rs1564332436
|
|
NM_004408.4(DNM1):c.929A>G (p.Glu310Gly)
|
rs1835069996
|
|
NM_004408.4(DNM1):c.944A>G (p.Lys315Arg)
|
rs1564332523
|
|
NM_004408.4(DNM1):c.952C>T (p.Arg318Cys)
|
rs892194903
|
|
NM_004408.4(DNM1):c.956C>T (p.Pro319Leu)
|
|
|
NM_004408.4(DNM1):c.958G>C (p.Asp320His)
|
rs1588368840
|
|
NM_004408.4(DNM1):c.95C>T (p.Pro32Leu)
|
rs1833619327
|
|
NM_004408.4(DNM1):c.963C>A (p.Asp321Glu)
|
|
|
NM_004408.4(DNM1):c.967G>T (p.Ala323Ser)
|
|
|
NM_004408.4(DNM1):c.970C>T (p.Arg324Cys)
|
|
|
NM_004408.4(DNM1):c.985C>G (p.Leu329Val)
|
rs868772525
|
|
NM_004408.4(DNM1):c.992+3G>A
|
|
|
NM_004408.4(DNM1):c.993-13_993-11del
|
|
|
NM_004408.4(DNM1):c.996G>A (p.Met332Ile)
|
|
|
NM_004453.3(ETFDH):c.-174A>G
|
rs886059193
|
|
NM_004453.4(ETFDH):c.*67T>G
|
rs1774708906
|
|
NM_004453.4(ETFDH):c.100T>A (p.Ser34Thr)
|
|
|
NM_004453.4(ETFDH):c.1037A>G (p.His346Arg)
|
|
|
NM_004453.4(ETFDH):c.1054A>G (p.Thr352Ala)
|
|
|
NM_004453.4(ETFDH):c.1055C>A (p.Thr352Asn)
|
rs2150312268
|
|
NM_004453.4(ETFDH):c.1061A>C (p.Glu354Ala)
|
rs2150312279
|
|
NM_004453.4(ETFDH):c.1093G>T (p.Ala365Ser)
|
|
|
NM_004453.4(ETFDH):c.1106G>C (p.Gly369Ala)
|
rs754418186
|
|
NM_004453.4(ETFDH):c.1108G>A (p.Gly370Ser)
|
rs1774393063
|
|
NM_004453.4(ETFDH):c.1116+2T>C
|
rs1561247874
|
|
NM_004453.4(ETFDH):c.1116+6T>C
|
rs1561247878
|
|
NM_004453.4(ETFDH):c.1116+7C>T
|
rs748640706
|
|
NM_004453.4(ETFDH):c.1116G>C (p.Gln372His)
|
|
|
NM_004453.4(ETFDH):c.1117-11T>C
|
rs917132143
|
|
NM_004453.4(ETFDH):c.1117T>C (p.Ser373Pro)
|
rs1774518301
|
|
NM_004453.4(ETFDH):c.1118C>T (p.Ser373Phe)
|
rs1774518388
|
|
NM_004453.4(ETFDH):c.1120A>G (p.Ile374Val)
|
|
|
NM_004453.4(ETFDH):c.1144G>A (p.Gly382Ser)
|
rs2126309213
|
|
NM_004453.4(ETFDH):c.1144G>T (p.Gly382Cys)
|
|
|
NM_004453.4(ETFDH):c.1178A>G (p.Asn393Ser)
|
|
|
NM_004453.4(ETFDH):c.1244T>C (p.Phe415Ser)
|
|
|
NM_004453.4(ETFDH):c.1256C>T (p.Thr419Ile)
|
|
|
NM_004453.4(ETFDH):c.125T>C (p.Ile42Thr)
|
|
|
NM_004453.4(ETFDH):c.1278G>A (p.Lys426=)
|
rs1284823413
|
|
NM_004453.4(ETFDH):c.1285G>C (p.Gly429Arg)
|
|
|
NM_004453.4(ETFDH):c.1286-13T>C
|
|
|
NM_004453.4(ETFDH):c.1286-15T>A
|
rs1248795834
|
|
NM_004453.4(ETFDH):c.1309G>A (p.Asp437Asn)
|
|
|
NM_004453.4(ETFDH):c.1336A>C (p.Lys446Gln)
|
rs1431935282
|
|
NM_004453.4(ETFDH):c.1360A>G (p.Ile454Val)
|
rs766776740
|
|
NM_004453.4(ETFDH):c.1360A>T (p.Ile454Leu)
|
rs766776740
|
|
NM_004453.4(ETFDH):c.1361T>C (p.Ile454Thr)
|
rs2126314946
|
|
NM_004453.4(ETFDH):c.1384C>G (p.Leu462Val)
|
|
|
NM_004453.4(ETFDH):c.1388G>A (p.Gly463Asp)
|
rs1561251388
|
|
NM_004453.4(ETFDH):c.1397G>A (p.Gly466Glu)
|
rs1774612717
|
|
NM_004453.4(ETFDH):c.139A>G (p.Thr47Ala)
|
rs924962456
|
|
NM_004453.4(ETFDH):c.1401G>T (p.Gly467=)
|
rs1774613217
|
|
NM_004453.4(ETFDH):c.1431A>G (p.Ile477Met)
|
rs2126315307
|
|
NM_004453.4(ETFDH):c.1436G>C (p.Arg479Thr)
|
rs1774615246
|
|
NM_004453.4(ETFDH):c.1444G>A (p.Glu482Lys)
|
rs1774615624
|
|
NM_004453.4(ETFDH):c.1449G>A (p.Pro483=)
|
rs143873407
|
|
NM_004453.4(ETFDH):c.1453A>C (p.Thr485Pro)
|
rs1774616683
|
|
NM_004453.4(ETFDH):c.1465A>G (p.Lys489Glu)
|
|
|
NM_004453.4(ETFDH):c.1469-8T>C
|
rs1774625470
|
|
NM_004453.4(ETFDH):c.1472C>T (p.Ser491Phe)
|
|
|
NM_004453.4(ETFDH):c.1484G>A (p.Arg495Gln)
|
|
|
NM_004453.4(ETFDH):c.1539G>C (p.Gln513His)
|
rs1445646586
|
|
NM_004453.4(ETFDH):c.1541T>C (p.Ile514Thr)
|
|
|
NM_004453.4(ETFDH):c.154G>A (p.Asp52Asn)
|
rs2150304401
|
|
NM_004453.4(ETFDH):c.1555T>C (p.Leu519=)
|
rs533097197
|
|
NM_004453.4(ETFDH):c.1573A>C (p.Ser525Arg)
|
|
|
NM_004453.4(ETFDH):c.1582A>G (p.Asn528Asp)
|
|
|
NM_004453.4(ETFDH):c.1597C>A (p.Gln533Lys)
|
rs2126316568
|
|
NM_004453.4(ETFDH):c.1613_1618del (p.Thr538_Leu539del)
|
|
|
NM_004453.4(ETFDH):c.1615T>G (p.Leu539Val)
|
|
|
NM_004453.4(ETFDH):c.1628G>A (p.Ser543Asn)
|
|
|
NM_004453.4(ETFDH):c.1631T>C (p.Ile544Thr)
|
|
|
NM_004453.4(ETFDH):c.164A>G (p.Lys55Arg)
|
|
|
NM_004453.4(ETFDH):c.1654A>C (p.Ile552Leu)
|
|
|
NM_004453.4(ETFDH):c.1660G>T (p.Asp554Tyr)
|
|
|
NM_004453.4(ETFDH):c.1664G>A (p.Gly555Glu)
|
rs2126316873
|
|
NM_004453.4(ETFDH):c.1680C>A (p.Phe560Leu)
|
|
|
NM_004453.4(ETFDH):c.1705G>T (p.Val569Leu)
|
|
|
NM_004453.4(ETFDH):c.1711G>C (p.Val571Leu)
|
|
|
NM_004453.4(ETFDH):c.1720G>A (p.Gly574Ser)
|
rs867281765
|
|
NM_004453.4(ETFDH):c.1726G>A (p.Gly576Arg)
|
rs760578708
|
|
NM_004453.4(ETFDH):c.1739A>G (p.Gln580Arg)
|
rs749989069
|
|
NM_004453.4(ETFDH):c.1750C>G (p.Gln584Glu)
|
|
|
NM_004453.4(ETFDH):c.1759G>A (p.Val587Ile)
|
|
|
NM_004453.4(ETFDH):c.1759G>T (p.Val587Leu)
|
|
|
NM_004453.4(ETFDH):c.1781T>C (p.Ile594Thr)
|
|
|
NM_004453.4(ETFDH):c.1781_1783dup (p.Ile594dup)
|
rs1774700761
|
|
NM_004453.4(ETFDH):c.1793G>A (p.Ser598Asn)
|
|
|
NM_004453.4(ETFDH):c.1798A>C (p.Asn600His)
|
|
|
NM_004453.4(ETFDH):c.1802T>A (p.Ile601Asn)
|
|
|
NM_004453.4(ETFDH):c.1816C>A (p.Pro606Thr)
|
rs1292587000
|
|
NM_004453.4(ETFDH):c.1834C>T (p.Pro612Ser)
|
|
|
NM_004453.4(ETFDH):c.1840T>A (p.Tyr614Asn)
|
|
|
NM_004453.4(ETFDH):c.1852T>G (p.Ter618Glu)
|
rs765742496
|
|
NM_004453.4(ETFDH):c.191G>C (p.Arg64Thr)
|
|
|
NM_004453.4(ETFDH):c.214G>A (p.Val72Ile)
|
|
|
NM_004453.4(ETFDH):c.235G>A (p.Ala79Thr)
|
|
|
NM_004453.4(ETFDH):c.25T>A (p.Ser9Thr)
|
rs1175266968
|
|
NM_004453.4(ETFDH):c.269T>C (p.Leu90Ser)
|
|
|
NM_004453.4(ETFDH):c.271G>T (p.Ala91Ser)
|
rs1208091864
|
|
NM_004453.4(ETFDH):c.272C>A (p.Ala91Asp)
|
rs1773880547
|
|
NM_004453.4(ETFDH):c.284A>G (p.Glu95Gly)
|
rs1580396806
|
|
NM_004453.4(ETFDH):c.320C>T (p.Ala107Val)
|
|
|
NM_004453.4(ETFDH):c.334C>A (p.His112Asn)
|
rs1773883564
|
|
NM_004453.4(ETFDH):c.34+5G>A
|
|
|
NM_004453.4(ETFDH):c.343T>A (p.Ser115Thr)
|
|
|
NM_004453.4(ETFDH):c.349G>C (p.Ala117Pro)
|
rs763106795
|
|
NM_004453.4(ETFDH):c.35-3C>A
|
rs1554031296
|
|
NM_004453.4(ETFDH):c.352T>G (p.Cys118Gly)
|
rs2150305281
|
|
NM_004453.4(ETFDH):c.353G>T (p.Cys118Phe)
|
rs1467428857
|
|
NM_004453.4(ETFDH):c.358G>C (p.Asp120His)
|
|
|
NM_004453.4(ETFDH):c.359A>G (p.Asp120Gly)
|
rs1773885189
|
|
NM_004453.4(ETFDH):c.373A>G (p.Lys125Glu)
|
|
|
NM_004453.4(ETFDH):c.376G>A (p.Glu126Lys)
|
rs1773885660
|
|
NM_004453.4(ETFDH):c.385C>T (p.Pro129Ser)
|
rs985343342
|
|
NM_004453.4(ETFDH):c.405+3A>G
|
rs796051965
|
|
NM_004453.4(ETFDH):c.405G>A (p.Gly135=)
|
|
|
NM_004453.4(ETFDH):c.410C>T (p.Pro137Leu)
|
|
|
NM_004453.4(ETFDH):c.42G>C (p.Gln14His)
|
|
|
NM_004453.4(ETFDH):c.43T>A (p.Cys15Ser)
|
|
|
NM_004453.4(ETFDH):c.444A>C (p.Gly148=)
|
rs1773954457
|
|
NM_004453.4(ETFDH):c.454G>C (p.Glu152Gln)
|
rs2150306318
|
|
NM_004453.4(ETFDH):c.463A>G (p.Arg155Gly)
|
rs549150456
|
|
NM_004453.4(ETFDH):c.46T>A (p.Phe16Ile)
|
|
|
NM_004453.4(ETFDH):c.485C>T (p.Pro162Leu)
|
rs1773956133
|
|
NM_004453.4(ETFDH):c.488-9T>C
|
rs1554031705
|
|
NM_004453.4(ETFDH):c.511A>G (p.Asn171Asp)
|
|
|
NM_004453.4(ETFDH):c.512A>G (p.Asn171Ser)
|
rs1773969792
|
|
NM_004453.4(ETFDH):c.529G>A (p.Gly177Arg)
|
|
|
NM_004453.4(ETFDH):c.549G>A (p.Met183Ile)
|
|
|
NM_004453.4(ETFDH):c.553G>A (p.Glu185Lys)
|
|
|
NM_004453.4(ETFDH):c.560C>T (p.Ala187Val)
|
rs369912835
|
|
NM_004453.4(ETFDH):c.569T>C (p.Leu190Pro)
|
rs1255103931
|
|
NM_004453.4(ETFDH):c.586C>A (p.Pro196Thr)
|
|
|
NM_004453.4(ETFDH):c.587_588delinsAA (p.Pro196Gln)
|
rs2150306642
|
|
NM_004453.4(ETFDH):c.606+10GTTTT[2]
|
rs745580994
|
|
NM_004453.4(ETFDH):c.608T>C (p.Val203Ala)
|
|
|
NM_004453.4(ETFDH):c.617A>C (p.His206Pro)
|
|
|
NM_004453.4(ETFDH):c.61A>T (p.Ile21Phe)
|
rs780991832
|
|
NM_004453.4(ETFDH):c.638G>C (p.Gly213Ala)
|
|
|
NM_004453.4(ETFDH):c.63T>C (p.Ile21=)
|
rs566605780
|
|
NM_004453.4(ETFDH):c.642T>G (p.Ile214Met)
|
rs201049444
|
|
NM_004453.4(ETFDH):c.655G>A (p.Val219Ile)
|
|
|
NM_004453.4(ETFDH):c.662T>A (p.Ile221Lys)
|
rs1580406086
|
|
NM_004453.4(ETFDH):c.665A>C (p.Gln222Pro)
|
rs1482632936
|
|
NM_004453.4(ETFDH):c.697A>G (p.Arg233Gly)
|
|
|
NM_004453.4(ETFDH):c.700G>A (p.Gly234Arg)
|
rs1032041993
|
|
NM_004453.4(ETFDH):c.761A>G (p.Lys254Arg)
|
rs1580411844
|
|
NM_004453.4(ETFDH):c.784T>G (p.Leu262Val)
|
|
|
NM_004453.4(ETFDH):c.786G>T (p.Leu262Phe)
|
rs1450977775
|
|
NM_004453.4(ETFDH):c.805C>G (p.Gln269Glu)
|
rs1580411897
|
|
NM_004453.4(ETFDH):c.807A>C (p.Gln269His)
|
rs1265381182
|
|
NM_004453.4(ETFDH):c.818T>C (p.Ile273Thr)
|
|
|
NM_004453.4(ETFDH):c.831+6C>T
|
|
|
NM_004453.4(ETFDH):c.865G>A (p.Gly289Arg)
|
rs1774343332
|
|
NM_004453.4(ETFDH):c.887G>A (p.Gly296Asp)
|
|
|
NM_004453.4(ETFDH):c.922T>G (p.Phe308Val)
|
rs1218671512
|
|
NM_004453.4(ETFDH):c.934T>G (p.Leu312Val)
|
|
|
NM_004453.4(ETFDH):c.940G>A (p.Glu314Lys)
|
|
|
NM_004453.4(ETFDH):c.948A>G (p.Glu316=)
|
rs1774347347
|
|
NM_004453.4(ETFDH):c.952C>A (p.Leu318Ile)
|
rs763002171
|
|
NM_004453.4(ETFDH):c.962T>C (p.Leu321Pro)
|
rs1464356117
|
|
NM_004453.4(ETFDH):c.970G>C (p.Val324Leu)
|
rs1774348680
|
|
NM_004453.4(ETFDH):c.983A>G (p.Asp328Gly)
|
|
|
NM_004453.4(ETFDH):c.995C>T (p.Pro332Leu)
|
|
|
NM_004483.5(GCSH):c.113T>G (p.Val38Gly)
|
rs888630308
|
|
NM_004483.5(GCSH):c.149-3T>C
|
rs1972381011
|
|
NM_004483.5(GCSH):c.151C>T (p.Arg51Cys)
|
rs1972380968
|
|
NM_004483.5(GCSH):c.17T>G (p.Val6Gly)
|
rs1567591606
|
|
NM_004483.5(GCSH):c.1A>T (p.Met1Leu)
|
rs886039730
|
|
NM_004483.5(GCSH):c.203C>T (p.Thr68Ile)
|
rs145768524
|
|
NM_004483.5(GCSH):c.20G>A (p.Arg7Gln)
|
rs1373562429
|
|
NM_004483.5(GCSH):c.22A>G (p.Ser8Gly)
|
rs546860042
|
|
NM_004483.5(GCSH):c.254G>T (p.Cys85Phe)
|
rs1972310010
|
|
NM_004483.5(GCSH):c.259C>A (p.Leu87Ile)
|
rs2151769189
|
|
NM_004483.5(GCSH):c.28C>T (p.Arg10Trp)
|
rs1254680841
|
|
NM_004483.5(GCSH):c.313A>G (p.Ser105Gly)
|
rs747131765
|
|
NM_004483.5(GCSH):c.31G>A (p.Ala11Thr)
|
rs766468139
|
|
NM_004483.5(GCSH):c.31G>T (p.Ala11Ser)
|
rs766468139
|
|
NM_004483.5(GCSH):c.38T>C (p.Leu13Pro)
|
rs2151776055
|
|
NM_004483.5(GCSH):c.423T>C (p.Asp141=)
|
rs749405278
|
|
NM_004483.5(GCSH):c.425G>T (p.Gly142Val)
|
|
|
NM_004483.5(GCSH):c.446T>C (p.Leu149Pro)
|
rs944048995
|
|
NM_004483.5(GCSH):c.4G>C (p.Ala2Pro)
|
rs975360553
|
|
NM_004483.5(GCSH):c.502A>G (p.Ile168Val)
|
rs1972198288
|
|
NM_004483.5(GCSH):c.511A>T (p.Ile171Phe)
|
rs1322444223
|
|
NM_004577.3(PSPH):c.-681A>C
|
rs886062396
|
|
NM_004577.3(PSPH):c.-708C>G
|
rs187219685
|
|
NM_004577.4(PSPH):c.*157C>T
|
rs1181829048
|
|
NM_004577.4(PSPH):c.*203T>C
|
rs997839370
|
|
NM_004577.4(PSPH):c.*233dup
|
rs34727399
|
|
NM_004577.4(PSPH):c.*46A>C
|
rs1787928354
|
|
NM_004577.4(PSPH):c.-228C>G
|
rs886062391
|
|
NM_004577.4(PSPH):c.-22A>G
|
rs1791057401
|
|
NM_004577.4(PSPH):c.-235_-213delinsC
|
rs886062390
|
|
NM_004577.4(PSPH):c.-333C>T
|
rs886062392
|
|
NM_004577.4(PSPH):c.-396C>G
|
rs1489692450
|
|
NM_004577.4(PSPH):c.-430T>G
|
rs886062393
|
|
NM_004577.4(PSPH):c.-519C>G
|
rs886062395
|
|
NM_004577.4(PSPH):c.-94G>A
|
rs1440086288
|
|
NM_004577.4(PSPH):c.276-2A>G
|
|
|
NM_004577.4(PSPH):c.276G>A (p.Arg92=)
|
rs2116569669
|
|
NM_004577.4(PSPH):c.302G>A (p.Arg101Gln)
|
|
|
NM_004577.4(PSPH):c.305A>G (p.Asn102Ser)
|
rs1562786740
|
|
NM_004577.4(PSPH):c.306_307insTTC (p.Asn102_Val103insPhe)
|
rs2116568545
|
|
NM_004577.4(PSPH):c.316T>C (p.Phe106Leu)
|
rs1295914487
|
|
NM_004577.4(PSPH):c.341G>T (p.Ser114Ile)
|
|
|
NM_004577.4(PSPH):c.351G>T (p.Glu117Asp)
|
rs766126853
|
|
NM_004577.4(PSPH):c.353A>G (p.His118Arg)
|
|
|
NM_004577.4(PSPH):c.358G>T (p.Ala120Ser)
|
|
|
NM_004577.4(PSPH):c.366G>C (p.Lys122Asn)
|
|
|
NM_004577.4(PSPH):c.379G>A (p.Ala127Thr)
|
|
|
NM_004577.4(PSPH):c.402G>T (p.Arg134Ser)
|
|
|
NM_004577.4(PSPH):c.421G>A (p.Gly141Ser)
|
|
|
NM_004577.4(PSPH):c.424G>A (p.Glu142Lys)
|
|
|
NM_004577.4(PSPH):c.464C>T (p.Ser155Phe)
|
|
|
NM_004577.4(PSPH):c.479A>G (p.Lys160Arg)
|
rs2116514675
|
|
NM_004577.4(PSPH):c.484A>G (p.Ile162Val)
|
|
|
NM_004577.4(PSPH):c.509A>G (p.His170Arg)
|
rs1788401716
|
|
NM_004577.4(PSPH):c.593G>A (p.Gly198Glu)
|
|
|
NM_004577.4(PSPH):c.595A>C (p.Asn199His)
|
|
|
NM_004577.4(PSPH):c.612A>C (p.Gln204His)
|
|
|
NM_004577.4(PSPH):c.641C>G (p.Thr214Ser)
|
rs2116425690
|
|
NM_004577.4(PSPH):c.673G>C (p.Glu225Gln)
|
rs536712417
|
|
NM_004698.4(PRPF3):c.*209T>C
|
rs886045265
|
|
NM_004698.4(PRPF3):c.-48-2A>T
|
rs782747350
|
|
NM_004698.4(PRPF3):c.-80C>T
|
rs1655040946
|
|
NM_004698.4(PRPF3):c.1224AGA[1] (p.Glu409del)
|
rs1657568113
|
|
NM_004698.4(PRPF3):c.1288A>G (p.Asn430Asp)
|
rs1657976600
|
|
NM_004698.4(PRPF3):c.1390G>A (p.Val464Ile)
|
rs1657984645
|
|
NM_004698.4(PRPF3):c.1455A>G (p.Leu485=)
|
rs886045261
|
|
NM_004698.4(PRPF3):c.1464A>C (p.Glu488Asp)
|
rs142253030
|
|
NM_004698.4(PRPF3):c.1481C>T (p.Thr494Met)
|
rs121434241
|
|
NM_004698.4(PRPF3):c.1847A>T (p.Asp616Val)
|
rs587704985
|
|
NM_004698.4(PRPF3):c.1906-15A>C
|
rs886045262
|
|
NM_004698.4(PRPF3):c.2014C>T (p.Leu672Phe)
|
rs1659093313
|
|
NM_004698.4(PRPF3):c.500C>T (p.Thr167Ile)
|
rs1656552502
|
|
NM_004698.4(PRPF3):c.822G>C (p.Leu274=)
|
rs886045260
|
|
NM_004744.5(LRAT):c.*138C>A
|
rs1241475769
|
|
NM_004744.5(LRAT):c.*1936G>C
|
rs1011111572
|
|
NM_004744.5(LRAT):c.*2064T>G
|
rs959693267
|
|
NM_004744.5(LRAT):c.*2222G>C
|
rs940106140
|
|
NM_004744.5(LRAT):c.*2310A>T
|
rs368622887
|
|
NM_004744.5(LRAT):c.*2396C>G
|
rs867110135
|
|
NM_004744.5(LRAT):c.*2418G>A
|
rs886059170
|
|
NM_004744.5(LRAT):c.*2463T>C
|
rs530211304
|
|
NM_004744.5(LRAT):c.*2467C>G
|
rs886059172
|
|
NM_004744.5(LRAT):c.*2629G>A
|
rs112759047
|
|
NM_004744.5(LRAT):c.*2855A>G
|
rs1733006832
|
|
NM_004744.5(LRAT):c.*2968C>G
|
rs886059175
|
|
NM_004744.5(LRAT):c.*3072G>T
|
rs944531041
|
|
NM_004744.5(LRAT):c.*3213C>T
|
rs1733014698
|
|
NM_004744.5(LRAT):c.*329T>C
|
rs886059164
|
|
NM_004744.5(LRAT):c.*336C>T
|
rs963950353
|
|
NM_004744.5(LRAT):c.*3770A>G
|
rs886059178
|
|
NM_004744.5(LRAT):c.*3917A>G
|
rs1052203357
|
|
NM_004744.5(LRAT):c.*3958G>A
|
rs886059179
|
|
NM_004744.5(LRAT):c.*495C>T
|
rs755614971
|
|
NM_004744.5(LRAT):c.*828G>C
|
rs1732961028
|
|
NM_004744.5(LRAT):c.*98C>A
|
rs529360609
|
|
NM_004744.5(LRAT):c.-115C>G
|
rs886059159
|
|
NM_004744.5(LRAT):c.258G>A (p.Gly86=)
|
rs768389044
|
|
NM_004744.5(LRAT):c.364A>G (p.Ile122Val)
|
rs907805484
|
|
NM_004744.5(LRAT):c.382G>C (p.Asp128His)
|
rs1732845050
|
|
NM_004928.3(CFAP410):c.140T>C (p.Leu47Pro)
|
|
|
NM_004937.2(CTNS):c.-581A>T
|
rs1031783359
|
|
NM_004937.3(CTNS):c.*100G>T
|
rs2076259110
|
|
NM_004937.3(CTNS):c.*1024_*1030delinsTGAAGCTGTC
|
rs886052872
|
|
NM_004937.3(CTNS):c.*1033_*1034insGGC
|
rs397831765
|
|
NM_004937.3(CTNS):c.*1046_*1047dup
|
rs772764926
|
|
NM_004937.3(CTNS):c.*1047dup
|
rs772764926
|
|
NM_004937.3(CTNS):c.*1125C>T
|
rs886052874
|
|
NM_004937.3(CTNS):c.*1176_*1179del
|
rs886052875
|
|
NM_004937.3(CTNS):c.*1956_*1957del
|
rs397856854
|
|
NM_004937.3(CTNS):c.*1957dup
|
rs397856854
|
|
NM_004937.3(CTNS):c.*2059C>G
|
rs2076290375
|
|
NM_004937.3(CTNS):c.*577T>C
|
rs886052869
|
|
NM_004937.3(CTNS):c.*654G>T
|
rs886052870
|
|
NM_004937.3(CTNS):c.*871G>C
|
rs886052871
|
|
NM_004937.3(CTNS):c.*983G>A
|
rs2076273486
|
|
NM_004937.3(CTNS):c.-136C>A
|
rs886052863
|
|
NM_004937.3(CTNS):c.-23AG[1]
|
rs550436044
|
|
NM_004937.3(CTNS):c.-272A>C
|
rs534368692
|
|
NM_004937.3(CTNS):c.-74A>T
|
rs886052864
|
|
NM_004937.3(CTNS):c.1007T>A (p.Phe336Tyr)
|
|
|
NM_004937.3(CTNS):c.1007T>C (p.Phe336Ser)
|
|
|
NM_004937.3(CTNS):c.1024_1035del (p.Ser342_Phe345del)
|
rs745806090
|
|
NM_004937.3(CTNS):c.1036G>A (p.Asp346Asn)
|
|
|
NM_004937.3(CTNS):c.1036_1047del (p.Asp346_Phe349del)
|
|
|
NM_004937.3(CTNS):c.1039GTC[1] (p.Val348del)
|
rs1555564879
|
|
NM_004937.3(CTNS):c.1042G>A (p.Val348Ile)
|
|
|
NM_004937.3(CTNS):c.1045T>G (p.Phe349Val)
|
rs748094459
|
|
NM_004937.3(CTNS):c.1045TTC[1] (p.Phe350del)
|
rs2076255711
|
|
NM_004937.3(CTNS):c.1062C>A (p.Phe354Leu)
|
rs762508287
|
|
NM_004937.3(CTNS):c.1075_1076del (p.Lys359fs)
|
rs779451531
|
|
NM_004937.3(CTNS):c.108C>G (p.Asn36Lys)
|
|
|
NM_004937.3(CTNS):c.122A>C (p.Asn41Thr)
|
|
|
NM_004937.3(CTNS):c.140+6T>C
|
|
|
NM_004937.3(CTNS):c.188G>T (p.Arg63Leu)
|
|
|
NM_004937.3(CTNS):c.191C>G (p.Ser64Cys)
|
rs1454743016
|
|
NM_004937.3(CTNS):c.221A>G (p.Asp74Gly)
|
|
|
NM_004937.3(CTNS):c.225+3A>G
|
rs2075909295
|
|
NM_004937.3(CTNS):c.225+5_225+8del
|
rs1555561048
|
|
NM_004937.3(CTNS):c.226-13dup
|
|
|
NM_004937.3(CTNS):c.22A>G (p.Ile8Val)
|
|
|
NM_004937.3(CTNS):c.248C>T (p.Thr83Ile)
|
rs1295370570
|
|
NM_004937.3(CTNS):c.278A>G (p.Asn93Ser)
|
|
|
NM_004937.3(CTNS):c.289C>T (p.Leu97Phe)
|
|
|
NM_004937.3(CTNS):c.306T>C (p.His102=)
|
rs2076094603
|
|
NM_004937.3(CTNS):c.311A>G (p.Asn104Ser)
|
|
|
NM_004937.3(CTNS):c.328G>A (p.Gly110Ser)
|
|
|
NM_004937.3(CTNS):c.329+2T>C
|
rs955833453
|
|
NM_004937.3(CTNS):c.340_348del (p.Arg114_Leu116del)
|
|
|
NM_004937.3(CTNS):c.343_354del (p.Phe115_Ile118del)
|
rs2150919478
|
|
NM_004937.3(CTNS):c.359G>A (p.Ser120Asn)
|
rs2076099606
|
|
NM_004937.3(CTNS):c.365C>T (p.Ala122Val)
|
rs2076099841
|
|
NM_004937.3(CTNS):c.376A>G (p.Ile126Val)
|
|
|
NM_004937.3(CTNS):c.399C>G (p.Ile133Met)
|
|
|
NM_004937.3(CTNS):c.410C>A (p.Ala137Asp)
|
rs1413852868
|
|
NM_004937.3(CTNS):c.425_427del (p.Phe142del)
|
rs1178364162
|
|
NM_004937.3(CTNS):c.428A>G (p.Tyr143Cys)
|
|
|
NM_004937.3(CTNS):c.455G>A (p.Arg152Gln)
|
|
|
NM_004937.3(CTNS):c.460A>C (p.Ser154Arg)
|
|
|
NM_004937.3(CTNS):c.462-27_462-3del
|
rs1555563374
|
|
NM_004937.3(CTNS):c.49G>A (p.Val17Ile)
|
|
|
NM_004937.3(CTNS):c.514G>T (p.Ala172Ser)
|
|
|
NM_004937.3(CTNS):c.518A>G (p.Tyr173Cys)
|
rs1555563446
|
|
NM_004937.3(CTNS):c.532A>G (p.Ile178Val)
|
|
|
NM_004937.3(CTNS):c.534C>A (p.Ile178=)
|
rs113967200
|
|
NM_004937.3(CTNS):c.561+3A>G
|
|
|
NM_004937.3(CTNS):c.588C>A (p.Asn196Lys)
|
|
|
NM_004937.3(CTNS):c.592G>T (p.Val198Leu)
|
|
|
NM_004937.3(CTNS):c.616G>A (p.Val206Ile)
|
|
|
NM_004937.3(CTNS):c.619TTC[1] (p.Phe208del)
|
rs1555563619
|
|
NM_004937.3(CTNS):c.64T>A (p.Ser22Thr)
|
|
|
NM_004937.3(CTNS):c.677A>G (p.Tyr226Cys)
|
|
|
NM_004937.3(CTNS):c.681+2dup
|
|
|
NM_004937.3(CTNS):c.681+5G>A
|
|
|
NM_004937.3(CTNS):c.681G>C (p.Glu227Asp)
|
|
|
NM_004937.3(CTNS):c.683G>T (p.Arg228Leu)
|
rs754201055
|
|
NM_004937.3(CTNS):c.684_686dup (p.Gly230dup)
|
rs1555563962
|
|
NM_004937.3(CTNS):c.685G>A (p.Gly229Ser)
|
rs200336280
|
|
NM_004937.3(CTNS):c.691C>A (p.Gln231Lys)
|
rs1463026342
|
|
NM_004937.3(CTNS):c.699G>A (p.Val233=)
|
rs2076195866
|
|
NM_004937.3(CTNS):c.70G>A (p.Val24Ile)
|
|
|
NM_004937.3(CTNS):c.715G>A (p.Gly239Ser)
|
|
|
NM_004937.3(CTNS):c.722T>C (p.Leu241Pro)
|
|
|
NM_004937.3(CTNS):c.73A>T (p.Ser25Cys)
|
rs777367316
|
|
NM_004937.3(CTNS):c.766_767delinsTT (p.Ala256Leu)
|
rs1567713916
|
|
NM_004937.3(CTNS):c.76C>T (p.Leu26Phe)
|
|
|
NM_004937.3(CTNS):c.782C>G (p.Thr261Arg)
|
rs370257007
|
|
NM_004937.3(CTNS):c.794T>C (p.Phe265Ser)
|
|
|
NM_004937.3(CTNS):c.814A>C (p.Ile272Leu)
|
|
|
NM_004937.3(CTNS):c.817A>G (p.Lys273Glu)
|
rs2076199463
|
|
NM_004937.3(CTNS):c.829A>G (p.Thr277Ala)
|
|
|
NM_004937.3(CTNS):c.838A>C (p.Lys280Gln)
|
rs2076200184
|
|
NM_004937.3(CTNS):c.839A>C (p.Lys280Thr)
|
rs2150925451
|
|
NM_004937.3(CTNS):c.853-3C>T
|
rs113994210
|
|
NM_004937.3(CTNS):c.860T>C (p.Met287Thr)
|
|
|
NM_004937.3(CTNS):c.869A>C (p.Tyr290Ser)
|
|
|
NM_004937.3(CTNS):c.86C>T (p.Pro29Leu)
|
|
|
NM_004937.3(CTNS):c.878G>A (p.Ser293Asn)
|
|
|
NM_004937.3(CTNS):c.88C>T (p.Pro30Ser)
|
|
|
NM_004937.3(CTNS):c.902A>G (p.Asn301Ser)
|
|
|
NM_004937.3(CTNS):c.911T>C (p.Leu304Pro)
|
|
|
NM_004937.3(CTNS):c.914A>G (p.Asp305Gly)
|
rs1263951539
|
|
NM_004937.3(CTNS):c.916T>A (p.Phe306Ile)
|
rs912184981
|
|
NM_004937.3(CTNS):c.938T>A (p.Leu313His)
|
|
|
NM_004937.3(CTNS):c.944A>G (p.Gln315Arg)
|
rs1064795587
|
|
NM_004937.3(CTNS):c.948G>A (p.Met316Ile)
|
|
|
NM_004937.3(CTNS):c.976T>A (p.Trp326Arg)
|
|
|
NM_004937.3(CTNS):c.976T>C (p.Trp326Arg)
|
|
|
NM_004937.3(CTNS):c.980C>T (p.Thr327Met)
|
|
|
NM_004937.3(CTNS):c.982C>G (p.Leu328Val)
|
|
|
NM_004937.3(CTNS):c.985A>G (p.Ile329Val)
|
|
|
NM_004974.4(KCNA2):c.*9361G>A
|
|
|
NM_004974.4(KCNA2):c.1018_1020del (p.Ile340del)
|
|
|
NM_004974.4(KCNA2):c.1022T>C (p.Leu341Pro)
|
rs2101397797
|
|
NM_004974.4(KCNA2):c.1028C>T (p.Ser343Phe)
|
rs1557732150
|
|
NM_004974.4(KCNA2):c.1028_1037dup (p.Val346_Tyr347insTer)
|
rs2101397670
|
|
NM_004974.4(KCNA2):c.1031dup (p.Ser344fs)
|
rs1553181298
|
|
NM_004974.4(KCNA2):c.1034C>T (p.Ala345Val)
|
rs2101397708
|
|
NM_004974.4(KCNA2):c.1036G>A (p.Val346Met)
|
|
|
NM_004974.4(KCNA2):c.1054G>A (p.Asp352Asn)
|
|
|
NM_004974.4(KCNA2):c.1060C>T (p.Arg354Ter)
|
|
|
NM_004974.4(KCNA2):c.1065G>T (p.Glu355Asp)
|
rs1308544471
|
|
NM_004974.4(KCNA2):c.1067C>G (p.Ser356Cys)
|
rs1317841788
|
|
NM_004974.4(KCNA2):c.1071G>T (p.Gln357His)
|
|
|
NM_004974.4(KCNA2):c.1103C>A (p.Ala368Glu)
|
rs2101397307
|
|
NM_004974.4(KCNA2):c.1118C>A (p.Thr373Lys)
|
|
|
NM_004974.4(KCNA2):c.1127G>C (p.Gly376Ala)
|
rs1557732017
|
|
NM_004974.4(KCNA2):c.1129T>C (p.Tyr377His)
|
|
|
NM_004974.4(KCNA2):c.1144C>G (p.Pro382Ala)
|
|
|
NM_004974.4(KCNA2):c.1145C>T (p.Pro382Leu)
|
rs777008812
|
|
NM_004974.4(KCNA2):c.1147A>C (p.Thr383Pro)
|
rs2101396868
|
|
NM_004974.4(KCNA2):c.1169T>A (p.Val390Glu)
|
|
|
NM_004974.4(KCNA2):c.1169T>G (p.Val390Gly)
|
rs2101396730
|
|
NM_004974.4(KCNA2):c.1171G>T (p.Gly391Cys)
|
|
|
NM_004974.4(KCNA2):c.1175C>T (p.Ser392Phe)
|
rs2101396713
|
|
NM_004974.4(KCNA2):c.1178T>A (p.Leu393Gln)
|
|
|
NM_004974.4(KCNA2):c.1184C>G (p.Ala395Gly)
|
|
|
NM_004974.4(KCNA2):c.1196T>G (p.Val399Gly)
|
rs1649457707
|
|
NM_004974.4(KCNA2):c.1204A>G (p.Ile402Val)
|
rs1366237350
|
|
NM_004974.4(KCNA2):c.1205T>C (p.Ile402Thr)
|
rs2101396495
|
|
NM_004974.4(KCNA2):c.1207G>T (p.Ala403Ser)
|
|
|
NM_004974.4(KCNA2):c.1208C>T (p.Ala403Val)
|
rs1649457143
|
|
NM_004974.4(KCNA2):c.1211T>C (p.Leu404Ser)
|
|
|
NM_004974.4(KCNA2):c.1213C>T (p.Pro405Ser)
|
|
|
NM_004974.4(KCNA2):c.1214C>G (p.Pro405Arg)
|
rs876657389
|
|
NM_004974.4(KCNA2):c.1216G>A (p.Val406Ile)
|
rs1553181257
|
|
NM_004974.4(KCNA2):c.1226T>A (p.Ile409Asn)
|
|
|
NM_004974.4(KCNA2):c.1228G>A (p.Val410Met)
|
|
|
NM_004974.4(KCNA2):c.1242C>A (p.Asn414Lys)
|
rs749520613
|
|
NM_004974.4(KCNA2):c.1242C>G (p.Asn414Lys)
|
rs749520613
|
|
NM_004974.4(KCNA2):c.1248C>A (p.Phe416Leu)
|
rs2101396138
|
|
NM_004974.4(KCNA2):c.1250A>G (p.Tyr417Cys)
|
rs1557731858
|
|
NM_004974.4(KCNA2):c.1255C>T (p.Arg419Trp)
|
rs1421981152
|
|
NM_004974.4(KCNA2):c.1263_1266del (p.Gly423fs)
|
rs1649454214
|
|
NM_004974.4(KCNA2):c.1276C>T (p.Gln426Ter)
|
|
|
NM_004974.4(KCNA2):c.127C>T (p.Arg43Trp)
|
rs2101404053
|
|
NM_004974.4(KCNA2):c.1297A>G (p.Thr433Ala)
|
|
|
NM_004974.4(KCNA2):c.1304G>A (p.Cys435Tyr)
|
rs1553181236
|
|
NM_004974.4(KCNA2):c.1304G>C (p.Cys435Ser)
|
rs1553181236
|
|
NM_004974.4(KCNA2):c.1311G>T (p.Lys437Asn)
|
|
|
NM_004974.4(KCNA2):c.1340G>T (p.Ser447Ile)
|
|
|
NM_004974.4(KCNA2):c.1354A>G (p.Thr452Ala)
|
rs765999960
|
|
NM_004974.4(KCNA2):c.1354A>T (p.Thr452Ser)
|
rs765999960
|
|
NM_004974.4(KCNA2):c.1372T>C (p.Tyr458His)
|
rs1649446402
|
|
NM_004974.4(KCNA2):c.1417A>G (p.Arg473Gly)
|
|
|
NM_004974.4(KCNA2):c.141G>T (p.Gln47His)
|
|
|
NM_004974.4(KCNA2):c.1445G>A (p.Cys482Tyr)
|
|
|
NM_004974.4(KCNA2):c.155C>T (p.Ala52Val)
|
|
|
NM_004974.4(KCNA2):c.166G>C (p.Glu56Gln)
|
|
|
NM_004974.4(KCNA2):c.16G>A (p.Gly6Arg)
|
|
|
NM_004974.4(KCNA2):c.170C>T (p.Thr57Ile)
|
rs1649517174
|
|
NM_004974.4(KCNA2):c.172C>T (p.Leu58Phe)
|
|
|
NM_004974.4(KCNA2):c.189G>T (p.Lys63Asn)
|
|
|
NM_004974.4(KCNA2):c.193C>T (p.Arg65Ter)
|
rs763353895
|
|
NM_004974.4(KCNA2):c.212C>T (p.Pro71Leu)
|
|
|
NM_004974.4(KCNA2):c.217C>T (p.Arg73Ter)
|
rs1570753974
|
|
NM_004974.4(KCNA2):c.235G>A (p.Asp79Asn)
|
rs747844549
|
|
NM_004974.4(KCNA2):c.235G>C (p.Asp79His)
|
|
|
NM_004974.4(KCNA2):c.235G>T (p.Asp79Tyr)
|
rs747844549
|
|
NM_004974.4(KCNA2):c.238C>T (p.Arg80Trp)
|
rs1448937059
|
|
NM_004974.4(KCNA2):c.23C>A (p.Pro8Gln)
|
|
|
NM_004974.4(KCNA2):c.244C>T (p.Arg82Cys)
|
rs1433727837
|
|
NM_004974.4(KCNA2):c.245G>A (p.Arg82His)
|
rs1386301058
|
|
NM_004974.4(KCNA2):c.260C>G (p.Ala87Gly)
|
|
|
NM_004974.4(KCNA2):c.277C>T (p.Gln93Ter)
|
rs1649511099
|
|
NM_004974.4(KCNA2):c.282_283del (p.Gly96fs)
|
rs1570753862
|
|
NM_004974.4(KCNA2):c.289C>T (p.Arg97Ter)
|
|
|
NM_004974.4(KCNA2):c.299G>A (p.Arg100Gln)
|
rs1649509246
|
|
NM_004974.4(KCNA2):c.308A>C (p.Asn103Thr)
|
|
|
NM_004974.4(KCNA2):c.308A>G (p.Asn103Ser)
|
rs1361080553
|
|
NM_004974.4(KCNA2):c.317T>C (p.Leu106Ser)
|
rs2101402741
|
|
NM_004974.4(KCNA2):c.329C>T (p.Ser110Phe)
|
rs1649507829
|
|
NM_004974.4(KCNA2):c.351G>T (p.Glu117Asp)
|
rs1649507257
|
|
NM_004974.4(KCNA2):c.356G>A (p.Gly119Glu)
|
|
|
NM_004974.4(KCNA2):c.356G>C (p.Gly119Ala)
|
|
|
NM_004974.4(KCNA2):c.362A>G (p.Glu121Gly)
|
|
|
NM_004974.4(KCNA2):c.364G>A (p.Ala122Thr)
|
rs1366378482
|
|
NM_004974.4(KCNA2):c.372G>C (p.Glu124Asp)
|
|
|
NM_004974.4(KCNA2):c.380G>A (p.Arg127Gln)
|
|
|
NM_004974.4(KCNA2):c.38C>T (p.Ala13Val)
|
|
|
NM_004974.4(KCNA2):c.412C>T (p.Arg138Cys)
|
|
|
NM_004974.4(KCNA2):c.422C>A (p.Pro141His)
|
rs1649502580
|
|
NM_004974.4(KCNA2):c.43C>G (p.Leu15Val)
|
rs1649522982
|
|
NM_004974.4(KCNA2):c.443_454del (p.Gln148_Leu151del)
|
rs2101401796
|
|
NM_004974.4(KCNA2):c.448T>C (p.Trp150Arg)
|
rs1649500367
|
|
NM_004974.4(KCNA2):c.450G>T (p.Trp150Cys)
|
rs2101401817
|
|
NM_004974.4(KCNA2):c.466C>T (p.Pro156Ser)
|
rs1649498927
|
|
NM_004974.4(KCNA2):c.46C>T (p.Pro16Ser)
|
rs1570754155
|
|
NM_004974.4(KCNA2):c.47C>G (p.Pro16Arg)
|
rs1649522718
|
|
NM_004974.4(KCNA2):c.485C>A (p.Ala162Asp)
|
|
|
NM_004974.4(KCNA2):c.488G>A (p.Arg163Lys)
|
|
|
NM_004974.4(KCNA2):c.490A>G (p.Ile164Val)
|
|
|
NM_004974.4(KCNA2):c.494T>A (p.Ile165Lys)
|
|
|
NM_004974.4(KCNA2):c.513G>T (p.Met171Ile)
|
|
|
NM_004974.4(KCNA2):c.520C>A (p.Leu174Met)
|
rs2101401415
|
|
NM_004974.4(KCNA2):c.53A>G (p.His18Arg)
|
|
|
NM_004974.4(KCNA2):c.547G>A (p.Glu183Lys)
|
rs1553181398
|
|
NM_004974.4(KCNA2):c.559A>G (p.Ile187Val)
|
|
|
NM_004974.4(KCNA2):c.566G>A (p.Arg189Gln)
|
|
|
NM_004974.4(KCNA2):c.569A>T (p.Asp190Val)
|
|
|
NM_004974.4(KCNA2):c.587A>G (p.His196Arg)
|
|
|
NM_004974.4(KCNA2):c.592A>G (p.Ser198Gly)
|
rs1649489553
|
|
NM_004974.4(KCNA2):c.611C>G (p.Thr204Ser)
|
|
|
NM_004974.4(KCNA2):c.614A>T (p.Tyr205Phe)
|
|
|
NM_004974.4(KCNA2):c.61G>A (p.Asp21Asn)
|
|
|
NM_004974.4(KCNA2):c.621C>A (p.Asn207Lys)
|
|
|
NM_004974.4(KCNA2):c.622A>G (p.Ser208Gly)
|
|
|
NM_004974.4(KCNA2):c.625A>G (p.Thr209Ala)
|
rs1649486218
|
|
NM_004974.4(KCNA2):c.626C>T (p.Thr209Ile)
|
|
|
NM_004974.4(KCNA2):c.627del (p.Ile210fs)
|
rs1649486083
|
|
NM_004974.4(KCNA2):c.628A>G (p.Ile210Val)
|
rs1649485938
|
|
NM_004974.4(KCNA2):c.631G>A (p.Gly211Arg)
|
rs149727427
|
|
NM_004974.4(KCNA2):c.640C>A (p.Gln214Lys)
|
|
|
NM_004974.4(KCNA2):c.647C>T (p.Thr216Ile)
|
|
|
NM_004974.4(KCNA2):c.650C>A (p.Ser217Tyr)
|
|
|
NM_004974.4(KCNA2):c.653dup (p.Thr219fs)
|
|
|
NM_004974.4(KCNA2):c.656C>A (p.Thr219Lys)
|
|
|
NM_004974.4(KCNA2):c.673G>A (p.Val225Ile)
|
|
|
NM_004974.4(KCNA2):c.680C>T (p.Thr227Ile)
|
rs2101400149
|
|
NM_004974.4(KCNA2):c.684_685del (p.Cys229fs)
|
rs1649483920
|
|
NM_004974.4(KCNA2):c.686G>A (p.Cys229Tyr)
|
rs2101400052
|
|
NM_004974.4(KCNA2):c.692T>C (p.Ile231Thr)
|
|
|
NM_004974.4(KCNA2):c.695G>C (p.Trp232Ser)
|
rs1570753354
|
|
NM_004974.4(KCNA2):c.700T>C (p.Ser234Pro)
|
rs2101399899
|
|
NM_004974.4(KCNA2):c.71A>C (p.Asp24Ala)
|
|
|
NM_004974.4(KCNA2):c.720_721del (p.Arg240fs)
|
|
|
NM_004974.4(KCNA2):c.727G>C (p.Ala243Pro)
|
|
|
NM_004974.4(KCNA2):c.731G>A (p.Cys244Tyr)
|
rs2101399724
|
|
NM_004974.4(KCNA2):c.737G>T (p.Ser246Ile)
|
rs1649481724
|
|
NM_004974.4(KCNA2):c.746G>C (p.Gly249Ala)
|
|
|
NM_004974.4(KCNA2):c.74C>T (p.Pro25Leu)
|
|
|
NM_004974.4(KCNA2):c.761T>A (p.Ile254Asn)
|
rs1649480102
|
|
NM_004974.4(KCNA2):c.764T>A (p.Met255Lys)
|
|
|
NM_004974.4(KCNA2):c.767A>T (p.Asn256Ile)
|
rs2101399466
|
|
NM_004974.4(KCNA2):c.776A>C (p.Asp259Ala)
|
rs1649479585
|
|
NM_004974.4(KCNA2):c.781G>T (p.Val261Leu)
|
|
|
NM_004974.4(KCNA2):c.782T>C (p.Val261Ala)
|
rs1649479037
|
|
NM_004974.4(KCNA2):c.787A>G (p.Ile263Val)
|
|
|
NM_004974.4(KCNA2):c.806C>T (p.Thr269Ile)
|
rs2101399201
|
|
NM_004974.4(KCNA2):c.808del (p.Leu270fs)
|
rs2101399144
|
|
NM_004974.4(KCNA2):c.815dup (p.Glu273fs)
|
|
|
NM_004974.4(KCNA2):c.841G>T (p.Ala281Ser)
|
rs753926939
|
|
NM_004974.4(KCNA2):c.844C>T (p.Gln282Ter)
|
rs1570753182
|
|
NM_004974.4(KCNA2):c.861_862del (p.Met288fs)
|
|
|
NM_004974.4(KCNA2):c.863T>C (p.Met288Thr)
|
|
|
NM_004974.4(KCNA2):c.86A>C (p.His29Pro)
|
|
|
NM_004974.4(KCNA2):c.880C>T (p.Arg294Cys)
|
|
|
NM_004974.4(KCNA2):c.894_895delinsAC (p.Val299Leu)
|
|
|
NM_004974.4(KCNA2):c.895G>C (p.Val299Leu)
|
rs1553181334
|
|
NM_004974.4(KCNA2):c.905_906del (p.Val301_Phe302insTer)
|
rs2101398557
|
|
NM_004974.4(KCNA2):c.919T>G (p.Leu307Val)
|
|
|
NM_004974.4(KCNA2):c.920T>G (p.Leu307Trp)
|
rs1649471614
|
|
NM_004974.4(KCNA2):c.928C>T (p.His310Tyr)
|
|
|
NM_004974.4(KCNA2):c.929A>C (p.His310Pro)
|
rs1649470988
|
|
NM_004974.4(KCNA2):c.937G>T (p.Gly313Cys)
|
rs2101398263
|
|
NM_004974.4(KCNA2):c.941T>C (p.Leu314Pro)
|
|
|
NM_004974.4(KCNA2):c.945G>T (p.Gln315His)
|
|
|
NM_004974.4(KCNA2):c.961C>T (p.Leu321Phe)
|
rs1557732226
|
|
NM_004974.4(KCNA2):c.974T>A (p.Met325Lys)
|
rs2101398110
|
|
NM_004974.4(KCNA2):c.980A>T (p.Glu327Val)
|
rs2101398077
|
|
NM_004974.4(KCNA2):c.997T>C (p.Phe333Leu)
|
rs1557732183
|
|
NM_004975.4(KCNB1):c.1006C>T (p.Leu336Phe)
|
rs2146813900
|
|
NM_004975.4(KCNB1):c.1015G>C (p.Ala339Pro)
|
rs1984255406
|
|
NM_004975.4(KCNB1):c.1020G>A (p.Met340Ile)
|
|
|
NM_004975.4(KCNB1):c.1051T>G (p.Phe351Val)
|
|
|
NM_004975.4(KCNB1):c.1052T>C (p.Phe351Ser)
|
rs2146813862
|
|
NM_004975.4(KCNB1):c.1065_1066delinsAT (p.Asp355_Glu356delinsGluTer)
|
rs2146813849
|
|
NM_004975.4(KCNB1):c.1079del (p.Lys360fs)
|
|
|
NM_004975.4(KCNB1):c.1080G>C (p.Lys360Asn)
|
rs2146813828
|
|
NM_004975.4(KCNB1):c.1105T>C (p.Trp369Arg)
|
rs1569017174
|
|
NM_004975.4(KCNB1):c.1112CCA[1] (p.Thr372del)
|
|
|
NM_004975.4(KCNB1):c.1130C>T (p.Thr377Ile)
|
rs1569017148
|
|
NM_004975.4(KCNB1):c.1139A>C (p.Tyr380Ser)
|
|
|
NM_004975.4(KCNB1):c.1139A>G (p.Tyr380Cys)
|
rs1569017123
|
|
NM_004975.4(KCNB1):c.1142G>A (p.Gly381Glu)
|
rs1569017114
|
|
NM_004975.4(KCNB1):c.1143A>T (p.Gly381=)
|
rs1569017109
|
|
NM_004975.4(KCNB1):c.1174A>G (p.Ile392Val)
|
|
|
NM_004975.4(KCNB1):c.117del (p.Leu40fs)
|
rs1601162716
|
|
NM_004975.4(KCNB1):c.1183G>A (p.Gly395Arg)
|
rs959316981
|
|
NM_004975.4(KCNB1):c.1205T>C (p.Val402Ala)
|
rs1984245487
|
|
NM_004975.4(KCNB1):c.1210G>A (p.Val404Met)
|
rs1984244898
|
|
NM_004975.4(KCNB1):c.1210G>T (p.Val404Leu)
|
|
|
NM_004975.4(KCNB1):c.1223C>G (p.Pro408Arg)
|
rs2146813607
|
|
NM_004975.4(KCNB1):c.122C>T (p.Ala41Val)
|
rs1980525336
|
|
NM_004975.4(KCNB1):c.1231A>G (p.Ile411Val)
|
|
|
NM_004975.4(KCNB1):c.1244del (p.Asn415fs)
|
|
|
NM_004975.4(KCNB1):c.126C>G (p.His42Gln)
|
rs1568658526
|
|
NM_004975.4(KCNB1):c.1289T>C (p.Ile430Thr)
|
|
|
NM_004975.4(KCNB1):c.1295G>A (p.Arg432Gln)
|
|
|
NM_004975.4(KCNB1):c.1343T>C (p.Met448Thr)
|
rs1984239884
|
|
NM_004975.4(KCNB1):c.1345A>G (p.Asn449Asp)
|
rs1984239652
|
|
NM_004975.4(KCNB1):c.1350G>A (p.Met450Ile)
|
|
|
NM_004975.4(KCNB1):c.1358C>T (p.Ala453Val)
|
rs2146813430
|
|
NM_004975.4(KCNB1):c.1366C>G (p.Arg456Gly)
|
rs368043123
|
|
NM_004975.4(KCNB1):c.1385A>C (p.Asp462Ala)
|
|
|
NM_004975.4(KCNB1):c.1394T>G (p.Val465Gly)
|
rs2015314520
|
|
NM_004975.4(KCNB1):c.1397A>C (p.Glu466Ala)
|
rs2146813382
|
|
NM_004975.4(KCNB1):c.1403A>G (p.Asn468Ser)
|
|
|
NM_004975.4(KCNB1):c.1408G>A (p.Glu470Lys)
|
|
|
NM_004975.4(KCNB1):c.1435C>T (p.Gln479Ter)
|
|
|
NM_004975.4(KCNB1):c.1446C>A (p.His482Gln)
|
rs750701951
|
|
NM_004975.4(KCNB1):c.1458C>G (p.Asn486Lys)
|
rs1388412501
|
|
NM_004975.4(KCNB1):c.1496G>C (p.Ser499Thr)
|
rs1984232770
|
|
NM_004975.4(KCNB1):c.1529G>T (p.Gly510Val)
|
rs767889610
|
|
NM_004975.4(KCNB1):c.152G>T (p.Arg51Leu)
|
rs2122803715
|
|
NM_004975.4(KCNB1):c.1543G>A (p.Ala515Thr)
|
|
|
NM_004975.4(KCNB1):c.1549T>C (p.Ser517Pro)
|
rs2146813186
|
|
NM_004975.4(KCNB1):c.157C>A (p.Pro53Thr)
|
|
|
NM_004975.4(KCNB1):c.1594A>G (p.Met532Val)
|
rs1984228484
|
|
NM_004975.4(KCNB1):c.1628C>A (p.Pro543His)
|
rs1251785989
|
|
NM_004975.4(KCNB1):c.1628C>T (p.Pro543Leu)
|
|
|
NM_004975.4(KCNB1):c.1651G>A (p.Ala551Thr)
|
|
|
NM_004975.4(KCNB1):c.1676A>G (p.Glu559Gly)
|
|
|
NM_004975.4(KCNB1):c.16A>G (p.Thr6Ala)
|
|
|
NM_004975.4(KCNB1):c.1700G>A (p.Ser567Asn)
|
|
|
NM_004975.4(KCNB1):c.1702C>A (p.Pro568Thr)
|
|
|
NM_004975.4(KCNB1):c.1724G>T (p.Arg575Leu)
|
rs544069848
|
|
NM_004975.4(KCNB1):c.1727C>G (p.Thr576Arg)
|
rs1355278265
|
|
NM_004975.4(KCNB1):c.1748G>C (p.Arg583Pro)
|
|
|
NM_004975.4(KCNB1):c.1787_1788del (p.Thr596fs)
|
rs1984217696
|
|
NM_004975.4(KCNB1):c.1801G>A (p.Ala601Thr)
|
|
|
NM_004975.4(KCNB1):c.1817A>G (p.His606Arg)
|
rs2146812820
|
|
NM_004975.4(KCNB1):c.182G>A (p.Arg61His)
|
|
|
NM_004975.4(KCNB1):c.1843_1862del (p.Lys615fs)
|
rs2146812741
|
|
NM_004975.4(KCNB1):c.1874G>A (p.Gly625Asp)
|
rs2146812721
|
|
NM_004975.4(KCNB1):c.1899T>G (p.Ser633Arg)
|
|
|
NM_004975.4(KCNB1):c.1907G>C (p.Arg636Thr)
|
rs2146812675
|
|
NM_004975.4(KCNB1):c.1912G>T (p.Val638Leu)
|
rs756972062
|
|
NM_004975.4(KCNB1):c.1935T>G (p.Asp645Glu)
|
rs763718208
|
|
NM_004975.4(KCNB1):c.1940G>A (p.Ser647Asn)
|
rs760648723
|
|
NM_004975.4(KCNB1):c.1941C>G (p.Ser647Arg)
|
|
|
NM_004975.4(KCNB1):c.1946A>G (p.His649Arg)
|
|
|
NM_004975.4(KCNB1):c.1982T>A (p.Met661Lys)
|
|
|
NM_004975.4(KCNB1):c.2011G>T (p.Ala671Ser)
|
|
|
NM_004975.4(KCNB1):c.2028C>G (p.Phe676Leu)
|
rs755628300
|
|
NM_004975.4(KCNB1):c.2034G>T (p.Glu678Asp)
|
|
|
NM_004975.4(KCNB1):c.2063T>C (p.Leu688Pro)
|
rs1601069788
|
|
NM_004975.4(KCNB1):c.2075A>G (p.His692Arg)
|
|
|
NM_004975.4(KCNB1):c.2079C>G (p.Asp693Glu)
|
|
|
NM_004975.4(KCNB1):c.2128T>A (p.Cys710Ser)
|
|
|
NM_004975.4(KCNB1):c.2129G>A (p.Cys710Tyr)
|
|
|
NM_004975.4(KCNB1):c.2134dup (p.Thr712fs)
|
|
|
NM_004975.4(KCNB1):c.2143G>C (p.Asp715His)
|
rs1601069538
|
|
NM_004975.4(KCNB1):c.2173A>G (p.Ile725Val)
|
|
|
NM_004975.4(KCNB1):c.2197A>T (p.Thr733Ser)
|
rs2146812165
|
|
NM_004975.4(KCNB1):c.2200C>A (p.Pro734Thr)
|
rs1214997887
|
|
NM_004975.4(KCNB1):c.2204C>T (p.Pro735Leu)
|
rs1984193843
|
|
NM_004975.4(KCNB1):c.2206C>G (p.Arg736Gly)
|
|
|
NM_004975.4(KCNB1):c.2206del (p.Arg736fs)
|
rs759902465
|
|
NM_004975.4(KCNB1):c.2206dup (p.Arg736fs)
|
|
|
NM_004975.4(KCNB1):c.2207G>C (p.Arg736Pro)
|
rs151175979
|
|
NM_004975.4(KCNB1):c.2234C>T (p.Ala745Val)
|
rs1984191107
|
|
NM_004975.4(KCNB1):c.2238_2243del (p.Asn747_Phe748del)
|
|
|
NM_004975.4(KCNB1):c.2269G>A (p.Asp757Asn)
|
|
|
NM_004975.4(KCNB1):c.2279C>A (p.Thr760Lys)
|
|
|
NM_004975.4(KCNB1):c.2306G>T (p.Ser769Ile)
|
rs1209493320
|
|
NM_004975.4(KCNB1):c.2315C>A (p.Ser772Tyr)
|
rs1445771227
|
|
NM_004975.4(KCNB1):c.2329A>G (p.Ser777Gly)
|
rs1984182896
|
|
NM_004975.4(KCNB1):c.2345C>G (p.Thr782Ser)
|
rs751639377
|
|
NM_004975.4(KCNB1):c.235G>A (p.Asp79Asn)
|
|
|
NM_004975.4(KCNB1):c.2366G>A (p.Gly789Glu)
|
|
|
NM_004975.4(KCNB1):c.2369C>T (p.Thr790Ile)
|
|
|
NM_004975.4(KCNB1):c.2392G>C (p.Glu798Gln)
|
rs1131691752
|
|
NM_004975.4(KCNB1):c.2396G>A (p.Ser799Asn)
|
rs1256695300
|
|
NM_004975.4(KCNB1):c.2416C>T (p.Pro806Ser)
|
rs1471856482
|
|
NM_004975.4(KCNB1):c.242A>T (p.Asn81Ile)
|
rs2122803550
|
|
NM_004975.4(KCNB1):c.2447C>A (p.Ser816Tyr)
|
|
|
NM_004975.4(KCNB1):c.2455G>T (p.Ala819Ser)
|
|
|
NM_004975.4(KCNB1):c.2460G>T (p.Leu820Phe)
|
rs1984174923
|
|
NM_004975.4(KCNB1):c.2461A>T (p.Thr821Ser)
|
|
|
NM_004975.4(KCNB1):c.2472_2473delinsTT (p.Pro825Ser)
|
rs2146811676
|
|
NM_004975.4(KCNB1):c.2473C>G (p.Pro825Ala)
|
|
|
NM_004975.4(KCNB1):c.2474C>T (p.Pro825Leu)
|
rs1744051695
|
|
NM_004975.4(KCNB1):c.2491T>C (p.Cys831Arg)
|
|
|
NM_004975.4(KCNB1):c.2515C>A (p.Pro839Thr)
|
rs1984172647
|
|
NM_004975.4(KCNB1):c.2540G>A (p.Gly847Glu)
|
|
|
NM_004975.4(KCNB1):c.2546C>A (p.Ala849Asp)
|
|
|
NM_004975.4(KCNB1):c.2560C>T (p.Arg854Ter)
|
rs780416138
|
|
NM_004975.4(KCNB1):c.298C>T (p.Arg100Cys)
|
|
|
NM_004975.4(KCNB1):c.307C>T (p.Arg103Ter)
|
rs1601162563
|
|
NM_004975.4(KCNB1):c.31C>A (p.Arg11Ser)
|
|
|
NM_004975.4(KCNB1):c.31C>T (p.Arg11Cys)
|
|
|
NM_004975.4(KCNB1):c.32G>T (p.Arg11Leu)
|
|
|
NM_004975.4(KCNB1):c.368del (p.Gly123fs)
|
|
|
NM_004975.4(KCNB1):c.407G>A (p.Arg136His)
|
rs1980515306
|
|
NM_004975.4(KCNB1):c.432G>A (p.Met144Ile)
|
rs1179147119
|
|
NM_004975.4(KCNB1):c.435C>G (p.Asn145Lys)
|
|
|
NM_004975.4(KCNB1):c.441G>T (p.Glu147Asp)
|
|
|
NM_004975.4(KCNB1):c.466C>G (p.Arg156Gly)
|
|
|
NM_004975.4(KCNB1):c.471G>T (p.Glu157Asp)
|
rs144926751
|
|
NM_004975.4(KCNB1):c.495C>A (p.Asn165Lys)
|
rs1239466410
|
|
NM_004975.4(KCNB1):c.525_526del (p.Trp176fs)
|
|
|
NM_004975.4(KCNB1):c.536T>C (p.Leu179Pro)
|
rs2122803080
|
|
NM_004975.4(KCNB1):c.553T>C (p.Ser185Pro)
|
|
|
NM_004975.4(KCNB1):c.567G>A (p.Lys189=)
|
rs1980508600
|
|
NM_004975.4(KCNB1):c.568-12T>G
|
rs1984280025
|
|
NM_004975.4(KCNB1):c.578T>A (p.Ile193Lys)
|
rs1555889171
|
|
NM_004975.4(KCNB1):c.587T>A (p.Ile196Asn)
|
|
|
NM_004975.4(KCNB1):c.605C>T (p.Ser202Phe)
|
rs1060499607
|
|
NM_004975.4(KCNB1):c.607A>T (p.Thr203Ser)
|
|
|
NM_004975.4(KCNB1):c.61A>T (p.Met21Leu)
|
|
|
NM_004975.4(KCNB1):c.62T>C (p.Met21Thr)
|
|
|
NM_004975.4(KCNB1):c.635C>T (p.Pro212Leu)
|
rs2146814318
|
|
NM_004975.4(KCNB1):c.654T>G (p.Asp218Glu)
|
rs2146814301
|
|
NM_004975.4(KCNB1):c.676_685del (p.Asn226fs)
|
rs2146814263
|
|
NM_004975.4(KCNB1):c.709A>T (p.Ile237Phe)
|
rs2146814233
|
|
NM_004975.4(KCNB1):c.70G>A (p.Val24Met)
|
rs778774389
|
|
NM_004975.4(KCNB1):c.70G>T (p.Val24Leu)
|
|
|
NM_004975.4(KCNB1):c.712G>T (p.Ala238Ser)
|
|
|
NM_004975.4(KCNB1):c.718T>A (p.Phe240Ile)
|
rs2146814213
|
|
NM_004975.4(KCNB1):c.725T>C (p.Met242Thr)
|
|
|
NM_004975.4(KCNB1):c.737T>G (p.Leu246Arg)
|
rs1601071839
|
|
NM_004975.4(KCNB1):c.73C>A (p.Arg25Ser)
|
|
|
NM_004975.4(KCNB1):c.740G>A (p.Arg247Lys)
|
rs1984270863
|
|
NM_004975.4(KCNB1):c.752C>T (p.Ser251Leu)
|
rs1984270019
|
|
NM_004975.4(KCNB1):c.754C>T (p.Pro252Ser)
|
rs1984269566
|
|
NM_004975.4(KCNB1):c.788A>G (p.Asn263Ser)
|
rs2146814130
|
|
NM_004975.4(KCNB1):c.799TTG[1] (p.Leu268del)
|
|
|
NM_004975.4(KCNB1):c.7G>A (p.Ala3Thr)
|
|
|
NM_004975.4(KCNB1):c.812T>C (p.Leu271Pro)
|
rs1569017375
|
|
NM_004975.4(KCNB1):c.817T>C (p.Tyr273His)
|
|
|
NM_004975.4(KCNB1):c.83C>T (p.Ala28Val)
|
rs769852170
|
|
NM_004975.4(KCNB1):c.841G>A (p.Glu281Lys)
|
rs1601071708
|
|
NM_004975.4(KCNB1):c.863_873delinsG (p.Gln288fs)
|
rs1601071660
|
|
NM_004975.4(KCNB1):c.877C>T (p.Arg293Cys)
|
rs1984264748
|
|
NM_004975.4(KCNB1):c.878G>A (p.Arg293His)
|
|
|
NM_004975.4(KCNB1):c.890A>G (p.Gln297Arg)
|
rs749981323
|
|
NM_004975.4(KCNB1):c.898C>T (p.Arg300Cys)
|
rs202170806
|
|
NM_004975.4(KCNB1):c.907C>T (p.Arg303Ter)
|
rs1391326211
|
|
NM_004975.4(KCNB1):c.917G>A (p.Arg306His)
|
rs1984262011
|
|
NM_004975.4(KCNB1):c.91C>T (p.Arg31Trp)
|
|
|
NM_004975.4(KCNB1):c.926A>G (p.Lys309Arg)
|
|
|
NM_004975.4(KCNB1):c.931G>A (p.Ala311Thr)
|
rs2146813980
|
|
NM_004975.4(KCNB1):c.947G>T (p.Gly316Val)
|
|
|
NM_004975.4(KCNB1):c.949C>T (p.Leu317Phe)
|
|
|
NM_004975.4(KCNB1):c.950T>C (p.Leu317Pro)
|
|
|
NM_004975.4(KCNB1):c.95G>C (p.Arg32Pro)
|
|
|
NM_004975.4(KCNB1):c.975GAG[3] (p.Arg326_Ser327insArg)
|
|
|
NM_004975.4(KCNB1):c.986A>G (p.Asn329Ser)
|
rs1984257387
|
|
NM_005050.4(ABCD4):c.1006G>A (p.Asp336Asn)
|
|
|
NM_005050.4(ABCD4):c.1009G>A (p.Val337Met)
|
|
|
NM_005050.4(ABCD4):c.1034G>T (p.Gly345Val)
|
|
|
NM_005050.4(ABCD4):c.1040T>C (p.Leu347Pro)
|
|
|
NM_005050.4(ABCD4):c.1049C>T (p.Thr350Met)
|
rs35073715
|
|
NM_005050.4(ABCD4):c.1060A>G (p.Met354Val)
|
|
|
NM_005050.4(ABCD4):c.1124C>T (p.Pro375Leu)
|
|
|
NM_005050.4(ABCD4):c.1190C>G (p.Pro397Arg)
|
|
|
NM_005050.4(ABCD4):c.1255A>G (p.Ile419Val)
|
rs2081160348
|
|
NM_005050.4(ABCD4):c.1265A>G (p.Asn422Ser)
|
|
|
NM_005050.4(ABCD4):c.1283C>T (p.Thr428Ile)
|
rs945270666
|
|
NM_005050.4(ABCD4):c.1306G>A (p.Gly436Ser)
|
rs2081143591
|
|
NM_005050.4(ABCD4):c.1316C>T (p.Thr439Met)
|
rs200761248
|
|
NM_005050.4(ABCD4):c.131T>A (p.Leu44Gln)
|
|
|
NM_005050.4(ABCD4):c.1324C>T (p.Arg442Trp)
|
|
|
NM_005050.4(ABCD4):c.1328-10G>A
|
|
|
NM_005050.4(ABCD4):c.1333G>A (p.Val445Met)
|
|
|
NM_005050.4(ABCD4):c.1352T>C (p.Phe451Ser)
|
rs1594861158
|
|
NM_005050.4(ABCD4):c.1357C>T (p.Pro453Ser)
|
|
|
NM_005050.4(ABCD4):c.1420-3del
|
|
|
NM_005050.4(ABCD4):c.1426T>C (p.Tyr476His)
|
rs1045211254
|
|
NM_005050.4(ABCD4):c.1450G>A (p.Asp484Asn)
|
|
|
NM_005050.4(ABCD4):c.1507-3_1507-2dup
|
rs746298456
|
|
NM_005050.4(ABCD4):c.1520C>A (p.Ala507Glu)
|
|
|
NM_005050.4(ABCD4):c.1528G>C (p.Glu510Gln)
|
|
|
NM_005050.4(ABCD4):c.1559+7_1559+11del
|
rs1381694360
|
|
NM_005050.4(ABCD4):c.157G>A (p.Glu53Lys)
|
rs2140107509
|
|
NM_005050.4(ABCD4):c.1588C>A (p.Gln530Lys)
|
|
|
NM_005050.4(ABCD4):c.1633G>A (p.Ala545Thr)
|
rs754370477
|
|
NM_005050.4(ABCD4):c.1667_1668del (p.Glu556fs)
|
|
|
NM_005050.4(ABCD4):c.1678A>G (p.Ser560Gly)
|
rs2139698542
|
|
NM_005050.4(ABCD4):c.1680C>G (p.Ser560Arg)
|
rs138753274
|
|
NM_005050.4(ABCD4):c.1691G>A (p.Arg564His)
|
rs1204078851
|
|
NM_005050.4(ABCD4):c.1696G>A (p.Gly566Ser)
|
|
|
NM_005050.4(ABCD4):c.1715C>T (p.Thr572Met)
|
|
|
NM_005050.4(ABCD4):c.1743C>G (p.Ser581Arg)
|
|
|
NM_005050.4(ABCD4):c.1774C>T (p.Leu592Phe)
|
rs2139689489
|
|
NM_005050.4(ABCD4):c.1805G>C (p.Arg602Thr)
|
|
|
NM_005050.4(ABCD4):c.1A>G (p.Met1Val)
|
rs2140174798
|
|
NM_005050.4(ABCD4):c.225C>G (p.Asp75Glu)
|
rs2140093719
|
|
NM_005050.4(ABCD4):c.227T>C (p.Leu76Ser)
|
|
|
NM_005050.4(ABCD4):c.23C>T (p.Pro8Leu)
|
|
|
NM_005050.4(ABCD4):c.286-3C>T
|
|
|
NM_005050.4(ABCD4):c.286-7T>A
|
|
|
NM_005050.4(ABCD4):c.379C>T (p.Arg127Cys)
|
|
|
NM_005050.4(ABCD4):c.384G>A (p.Ala128=)
|
|
|
NM_005050.4(ABCD4):c.398A>G (p.Asn133Ser)
|
|
|
NM_005050.4(ABCD4):c.39G>T (p.Arg13Ser)
|
|
|
NM_005050.4(ABCD4):c.400G>A (p.Val134Met)
|
|
|
NM_005050.4(ABCD4):c.40C>G (p.Pro14Ala)
|
rs972140495
|
|
NM_005050.4(ABCD4):c.419A>C (p.Asp140Ala)
|
|
|
NM_005050.4(ABCD4):c.41C>T (p.Pro14Leu)
|
|
|
NM_005050.4(ABCD4):c.434G>T (p.Arg145Leu)
|
rs150967109
|
|
NM_005050.4(ABCD4):c.448G>A (p.Val150Met)
|
rs574925291
|
|
NM_005050.4(ABCD4):c.467A>T (p.Gln156Leu)
|
|
|
NM_005050.4(ABCD4):c.469C>G (p.Leu157Val)
|
|
|
NM_005050.4(ABCD4):c.500C>A (p.Ser167Tyr)
|
rs778245157
|
|
NM_005050.4(ABCD4):c.505T>C (p.Phe169Leu)
|
|
|
NM_005050.4(ABCD4):c.511C>T (p.Leu171Phe)
|
|
|
NM_005050.4(ABCD4):c.619C>A (p.Pro207Thr)
|
|
|
NM_005050.4(ABCD4):c.637G>T (p.Val213Leu)
|
|
|
NM_005050.4(ABCD4):c.664T>C (p.Phe222Leu)
|
|
|
NM_005050.4(ABCD4):c.675G>C (p.Lys225Asn)
|
|
|
NM_005050.4(ABCD4):c.688C>T (p.Arg230Trp)
|
|
|
NM_005050.4(ABCD4):c.714C>G (p.Phe238Leu)
|
|
|
NM_005050.4(ABCD4):c.716A>G (p.Tyr239Cys)
|
|
|
NM_005050.4(ABCD4):c.739A>C (p.Met247Leu)
|
|
|
NM_005050.4(ABCD4):c.754A>G (p.Arg252Gly)
|
|
|
NM_005050.4(ABCD4):c.761A>G (p.Gln254Arg)
|
|
|
NM_005050.4(ABCD4):c.801G>C (p.Glu267Asp)
|
rs1566959741
|
|
NM_005050.4(ABCD4):c.814+6C>T
|
rs1012967402
|
|
NM_005050.4(ABCD4):c.821T>A (p.Ile274Asn)
|
rs2081908223
|
|
NM_005050.4(ABCD4):c.893A>G (p.Tyr298Cys)
|
|
|
NM_005050.4(ABCD4):c.89T>G (p.Val30Gly)
|
rs2084043062
|
|
NM_005050.4(ABCD4):c.979C>G (p.Leu327Val)
|
|
|
NM_005050.4(ABCD4):c.995C>T (p.Thr332Met)
|
|
|
NM_005148.4(UNC119):c.*115G>A
|
rs1040198223
|
|
NM_005148.4(UNC119):c.*181G>A
|
rs898936208
|
|
NM_005148.4(UNC119):c.*78C>T
|
rs558661546
|
|
NM_005148.4(UNC119):c.-38C>T
|
rs886052766
|
|
NM_005148.4(UNC119):c.262T>C (p.Phe88Leu)
|
rs886052765
|
|
NM_005148.4(UNC119):c.689A>G (p.Asn230Ser)
|
rs2070217294
|
|
NM_005271.5(GLUD1):c.*1139T>C
|
rs1845608491
|
|
NM_005271.5(GLUD1):c.*1211T>C
|
rs1845605578
|
|
NM_005271.5(GLUD1):c.*1252T>C
|
rs886047371
|
|
NM_005271.5(GLUD1):c.*1515A>G
|
rs1845594094
|
|
NM_005271.5(GLUD1):c.*1545C>T
|
rs886047367
|
|
NM_005271.5(GLUD1):c.*205A>G
|
rs886047373
|
|
NM_005271.5(GLUD1):c.*64T>C
|
rs760101776
|
|
NM_005271.5(GLUD1):c.*64T>G
|
rs760101776
|
|
NM_005271.5(GLUD1):c.*868A>C
|
rs1430742705
|
|
NM_005271.5(GLUD1):c.-44C>T
|
rs886047379
|
|
NM_005271.5(GLUD1):c.1006A>G (p.Ser336Gly)
|
|
|
NM_005271.5(GLUD1):c.1063C>T (p.His355Tyr)
|
|
|
NM_005271.5(GLUD1):c.1070C>T (p.Ser357Phe)
|
|
|
NM_005271.5(GLUD1):c.1078_1079insAGTCCATTCTGG (p.Leu359_Gly360insGluSerIleLeu)
|
rs1845910499
|
|
NM_005271.5(GLUD1):c.107A>G (p.Gln36Arg)
|
|
|
NM_005271.5(GLUD1):c.1111A>G (p.Ile371Val)
|
rs2133795523
|
|
NM_005271.5(GLUD1):c.1132A>G (p.Ile378Val)
|
rs1589358775
|
|
NM_005271.5(GLUD1):c.1175A>G (p.Asn392Ser)
|
|
|
NM_005271.5(GLUD1):c.1197+5C>A
|
|
|
NM_005271.5(GLUD1):c.1198-11CT[2]
|
rs753448342
|
|
NM_005271.5(GLUD1):c.122_148del (p.Pro41_Ala49del)
|
|
|
NM_005271.5(GLUD1):c.1249T>A (p.Phe417Ile)
|
rs2133794123
|
|
NM_005271.5(GLUD1):c.1279-3T>C
|
rs1845868081
|
|
NM_005271.5(GLUD1):c.1358G>A (p.Arg453His)
|
|
|
NM_005271.5(GLUD1):c.1379G>C (p.Arg460Thr)
|
rs2133792215
|
|
NM_005271.5(GLUD1):c.1402A>C (p.Met468Leu)
|
rs2133792192
|
|
NM_005271.5(GLUD1):c.1442A>T (p.His481Leu)
|
rs1169592069
|
|
NM_005271.5(GLUD1):c.1466C>T (p.Pro489Leu)
|
rs2133788907
|
|
NM_005271.5(GLUD1):c.1479C>A (p.Phe493Leu)
|
rs2133788865
|
|
NM_005271.5(GLUD1):c.1495G>A (p.Gly499Ser)
|
rs121909733
|
|
NM_005271.5(GLUD1):c.1557+12G>A
|
rs201872390
|
|
NM_005271.5(GLUD1):c.1558-5T>A
|
|
|
NM_005271.5(GLUD1):c.1637T>C (p.Val546Ala)
|
rs2133773089
|
|
NM_005271.5(GLUD1):c.178C>A (p.Arg60Ser)
|
|
|
NM_005271.5(GLUD1):c.203A>G (p.Lys68Arg)
|
|
|
NM_005271.5(GLUD1):c.212A>C (p.Glu71Ala)
|
|
|
NM_005271.5(GLUD1):c.226C>T (p.Arg76Cys)
|
rs1841666156
|
|
NM_005271.5(GLUD1):c.240C>G (p.Ile80Met)
|
rs2133874774
|
|
NM_005271.5(GLUD1):c.247G>A (p.Asp83Asn)
|
|
|
NM_005271.5(GLUD1):c.307C>G (p.Arg103Gly)
|
|
|
NM_005271.5(GLUD1):c.37C>T (p.Arg13Trp)
|
|
|
NM_005271.5(GLUD1):c.3G>A (p.Met1Ile)
|
rs1294286511
|
|
NM_005271.5(GLUD1):c.415C>T (p.His139Tyr)
|
rs2133873984
|
|
NM_005271.5(GLUD1):c.446-5634T>C
|
rs1841280208
|
|
NM_005271.5(GLUD1):c.446-7CCA[4]
|
rs753723749
|
|
NM_005271.5(GLUD1):c.452G>C (p.Arg151Pro)
|
rs777627931
|
|
NM_005271.5(GLUD1):c.53C>T (p.Ala18Val)
|
|
|
NM_005271.5(GLUD1):c.546T>C (p.Ala182=)
|
rs886047378
|
|
NM_005271.5(GLUD1):c.615C>G (p.Phe205Leu)
|
|
|
NM_005271.5(GLUD1):c.655A>G (p.Ile219Val)
|
|
|
NM_005271.5(GLUD1):c.677T>G (p.Met226Arg)
|
rs886047377
|
|
NM_005271.5(GLUD1):c.719A>G (p.Tyr240Cys)
|
|
|
NM_005271.5(GLUD1):c.757G>A (p.Ala253Thr)
|
|
|
NM_005271.5(GLUD1):c.803G>A (p.Arg268His)
|
|
|
NM_005271.5(GLUD1):c.839T>C (p.Ile280Thr)
|
rs1845968579
|
|
NM_005271.5(GLUD1):c.919C>T (p.Gln307Ter)
|
rs886047375
|
|
NM_005271.5(GLUD1):c.953G>A (p.Arg318Lys)
|
rs121909736
|
|
NM_005271.5(GLUD1):c.953G>C (p.Arg318Thr)
|
rs121909736
|
|
NM_005271.5(GLUD1):c.955T>A (p.Tyr319Asn)
|
|
|
NM_005271.5(GLUD1):c.962A>G (p.His321Arg)
|
|
|
NM_005327.4(HADH):c.-195A>C
|
rs886058979
|
|
NM_005327.4(HADH):c.-195A>G
|
rs886058979
|
|
NM_005327.4(HADH):c.-56C>A
|
rs770197760
|
|
NM_005327.7(HADH):c.*661dup
|
rs886058981
|
|
NM_005327.7(HADH):c.100G>A (p.Gly34Ser)
|
rs779135938
|
|
NM_005327.7(HADH):c.106G>C (p.Gly36Arg)
|
rs994692222
|
|
NM_005327.7(HADH):c.132+6C>G
|
rs772843585
|
|
NM_005327.7(HADH):c.134T>C (p.Val45Ala)
|
|
|
NM_005327.7(HADH):c.21G>A (p.Gln7=)
|
rs886058980
|
|
NM_005327.7(HADH):c.220C>T (p.Leu74Phe)
|
rs1735422340
|
|
NM_005327.7(HADH):c.235AAG[2] (p.Lys81del)
|
rs763318550
|
|
NM_005327.7(HADH):c.243G>T (p.Lys81Asn)
|
|
|
NM_005327.7(HADH):c.264C>T (p.Ala88=)
|
rs201324954
|
|
NM_005327.7(HADH):c.291G>T (p.Leu97=)
|
rs552317372
|
|
NM_005327.7(HADH):c.311C>T (p.Thr104Met)
|
|
|
NM_005327.7(HADH):c.316G>A (p.Ala106Thr)
|
|
|
NM_005327.7(HADH):c.32C>T (p.Ser11Phe)
|
|
|
NM_005327.7(HADH):c.380A>G (p.Lys127Arg)
|
rs1735626197
|
|
NM_005327.7(HADH):c.388C>T (p.Leu130Phe)
|
|
|
NM_005327.7(HADH):c.420A>T (p.Glu140Asp)
|
|
|
NM_005327.7(HADH):c.422A>G (p.His141Arg)
|
|
|
NM_005327.7(HADH):c.427A>G (p.Ile143Val)
|
|
|
NM_005327.7(HADH):c.443C>T (p.Thr148Ile)
|
|
|
NM_005327.7(HADH):c.497T>A (p.Phe166Tyr)
|
|
|
NM_005327.7(HADH):c.50C>T (p.Thr17Ile)
|
|
|
NM_005327.7(HADH):c.533T>A (p.Met178Lys)
|
|
|
NM_005327.7(HADH):c.643C>T (p.Pro215Ser)
|
rs140413151
|
|
NM_005327.7(HADH):c.688G>A (p.Ala230Thr)
|
rs780574282
|
|
NM_005327.7(HADH):c.705A>C (p.Glu235Asp)
|
|
|
NM_005327.7(HADH):c.715G>T (p.Ala239Ser)
|
rs746680125
|
|
NM_005327.7(HADH):c.725A>G (p.Glu242Gly)
|
rs1736337186
|
|
NM_005327.7(HADH):c.740C>T (p.Ala247Val)
|
rs1736337431
|
|
NM_005327.7(HADH):c.805A>G (p.Thr269Ala)
|
rs1736341112
|
|
NM_005327.7(HADH):c.806C>G (p.Thr269Ser)
|
rs754403207
|
|
NM_005327.7(HADH):c.825T>C (p.Asp275=)
|
|
|
NM_005327.7(HADH):c.825T>G (p.Asp275Glu)
|
rs1736344235
|
|
NM_005327.7(HADH):c.832C>T (p.His278Tyr)
|
|
|
NM_005327.7(HADH):c.875C>T (p.Ser292Phe)
|
|
|
NM_005327.7(HADH):c.8T>C (p.Phe3Ser)
|
rs2126215379
|
|
NM_005327.7(HADH):c.906C>G (p.Phe302Leu)
|
|
|
NM_005334.3(HCFC1):c.1030C>T (p.Arg344Cys)
|
rs2065417308
|
|
NM_005334.3(HCFC1):c.1031G>A (p.Arg344His)
|
rs2148589382
|
|
NM_005334.3(HCFC1):c.1133A>G (p.Asn378Ser)
|
|
|
NM_005334.3(HCFC1):c.1159G>A (p.Val387Met)
|
rs782132752
|
|
NM_005334.3(HCFC1):c.1228A>G (p.Thr410Ala)
|
|
|
NM_005334.3(HCFC1):c.1309G>A (p.Val437Met)
|
rs2065413556
|
|
NM_005334.3(HCFC1):c.1355C>T (p.Ala452Val)
|
rs868948937
|
|
NM_005334.3(HCFC1):c.1427C>T (p.Thr476Ile)
|
rs782364666
|
|
NM_005334.3(HCFC1):c.1697C>T (p.Thr566Met)
|
rs1557115869
|
|
NM_005334.3(HCFC1):c.1763C>A (p.Thr588Asn)
|
|
|
NM_005334.3(HCFC1):c.1790C>T (p.Ser597Phe)
|
|
|
NM_005334.3(HCFC1):c.1888C>T (p.Arg630Cys)
|
|
|
NM_005334.3(HCFC1):c.2028+6T>C
|
|
|
NM_005334.3(HCFC1):c.218C>T (p.Ala73Val)
|
rs397515486
|
|
NM_005334.3(HCFC1):c.2231C>T (p.Ala744Val)
|
rs2065388763
|
|
NM_005334.3(HCFC1):c.2287C>T (p.Pro763Ser)
|
|
|
NM_005334.3(HCFC1):c.2353+6G>A
|
|
|
NM_005334.3(HCFC1):c.2360C>A (p.Thr787Asn)
|
|
|
NM_005334.3(HCFC1):c.2376C>G (p.Ile792Met)
|
|
|
NM_005334.3(HCFC1):c.2516C>T (p.Pro839Leu)
|
|
|
NM_005334.3(HCFC1):c.2542A>G (p.Thr848Ala)
|
rs1131691855
|
|
NM_005334.3(HCFC1):c.2668G>A (p.Val890Ile)
|
rs949004802
|
|
NM_005334.3(HCFC1):c.2972C>G (p.Thr991Ser)
|
|
|
NM_005334.3(HCFC1):c.3233C>T (p.Pro1078Leu)
|
|
|
NM_005334.3(HCFC1):c.3257G>A (p.Gly1086Asp)
|
rs2065362050
|
|
NM_005334.3(HCFC1):c.3260C>G (p.Thr1087Ser)
|
|
|
NM_005334.3(HCFC1):c.3314C>T (p.Ser1105Leu)
|
rs2065360852
|
|
NM_005334.3(HCFC1):c.3317A>C (p.Asn1106Thr)
|
rs2065360777
|
|
NM_005334.3(HCFC1):c.3337G>A (p.Glu1113Lys)
|
|
|
NM_005334.3(HCFC1):c.3398G>A (p.Arg1133Gln)
|
|
|
NM_005334.3(HCFC1):c.3443G>A (p.Arg1148Gln)
|
|
|
NM_005334.3(HCFC1):c.3506G>A (p.Arg1169His)
|
|
|
NM_005334.3(HCFC1):c.3584C>T (p.Pro1195Leu)
|
|
|
NM_005334.3(HCFC1):c.3602C>G (p.Pro1201Arg)
|
|
|
NM_005334.3(HCFC1):c.3674T>C (p.Ile1225Thr)
|
rs2065355018
|
|
NM_005334.3(HCFC1):c.3689C>T (p.Ala1230Val)
|
|
|
NM_005334.3(HCFC1):c.3707C>T (p.Ala1236Val)
|
|
|
NM_005334.3(HCFC1):c.3767C>T (p.Pro1256Leu)
|
|
|
NM_005334.3(HCFC1):c.3779G>T (p.Ser1260Ile)
|
rs2065352881
|
|
NM_005334.3(HCFC1):c.3807_3812del (p.1270VT[1])
|
|
|
NM_005334.3(HCFC1):c.3811A>G (p.Thr1271Ala)
|
|
|
NM_005334.3(HCFC1):c.3839G>C (p.Cys1280Ser)
|
|
|
NM_005334.3(HCFC1):c.3880T>C (p.Cys1294Arg)
|
rs2148571129
|
|
NM_005334.3(HCFC1):c.3980C>T (p.Thr1327Met)
|
|
|
NM_005334.3(HCFC1):c.3995C>T (p.Thr1332Met)
|
|
|
NM_005334.3(HCFC1):c.4006G>A (p.Ala1336Thr)
|
|
|
NM_005334.3(HCFC1):c.4063C>T (p.Arg1355Cys)
|
|
|
NM_005334.3(HCFC1):c.4064G>A (p.Arg1355His)
|
|
|
NM_005334.3(HCFC1):c.4148C>T (p.Ser1383Phe)
|
|
|
NM_005334.3(HCFC1):c.4210G>C (p.Gly1404Arg)
|
rs2148569217
|
|
NM_005334.3(HCFC1):c.4291C>T (p.His1431Tyr)
|
rs2065343736
|
|
NM_005334.3(HCFC1):c.4410T>A (p.Ser1470Arg)
|
|
|
NM_005334.3(HCFC1):c.4423A>G (p.Thr1475Ala)
|
rs2065338418
|
|
NM_005334.3(HCFC1):c.4475C>T (p.Pro1492Leu)
|
|
|
NM_005334.3(HCFC1):c.4481C>T (p.Pro1494Leu)
|
|
|
NM_005334.3(HCFC1):c.4499C>T (p.Pro1500Leu)
|
rs1277991321
|
|
NM_005334.3(HCFC1):c.4532G>A (p.Arg1511His)
|
|
|
NM_005334.3(HCFC1):c.4576G>A (p.Ala1526Thr)
|
rs782652831
|
|
NM_005334.3(HCFC1):c.4619C>G (p.Thr1540Ser)
|
|
|
NM_005334.3(HCFC1):c.4727C>A (p.Pro1576Gln)
|
|
|
NM_005334.3(HCFC1):c.4735C>G (p.Gln1579Glu)
|
rs1603294733
|
|
NM_005334.3(HCFC1):c.4880C>T (p.Thr1627Met)
|
rs2148563099
|
|
NM_005334.3(HCFC1):c.4948G>A (p.Gly1650Ser)
|
|
|
NM_005334.3(HCFC1):c.4983_4988del (p.Val1662_Thr1663del)
|
rs1275942023
|
|
NM_005334.3(HCFC1):c.5053G>A (p.Val1685Met)
|
rs2065317868
|
|
NM_005334.3(HCFC1):c.5097_5126dup (p.Gln1699_Gln1708dup)
|
rs2148561074
|
|
NM_005334.3(HCFC1):c.5192A>G (p.Asn1731Ser)
|
rs1376359622
|
|
NM_005334.3(HCFC1):c.5244C>T (p.Pro1748=)
|
|
|
NM_005334.3(HCFC1):c.5276A>C (p.Asn1759Thr)
|
rs782384589
|
|
NM_005334.3(HCFC1):c.5302G>A (p.Val1768Met)
|
|
|
NM_005334.3(HCFC1):c.5305G>A (p.Val1769Met)
|
|
|
NM_005334.3(HCFC1):c.5468T>C (p.Val1823Ala)
|
rs2065309711
|
|
NM_005334.3(HCFC1):c.5698A>G (p.Ser1900Gly)
|
rs2065303644
|
|
NM_005334.3(HCFC1):c.5782G>A (p.Ala1928Thr)
|
|
|
NM_005334.3(HCFC1):c.6029C>G (p.Thr2010Ser)
|
|
|
NM_005334.3(HCFC1):c.6069G>T (p.Met2023Ile)
|
rs2148553327
|
|
NM_005334.3(HCFC1):c.6094G>A (p.Ala2032Thr)
|
|
|
NM_005334.3(HCFC1):c.712+6C>T
|
rs1165322624
|
|
NM_005334.3(HCFC1):c.73delinsCCAC (p.Trp25delinsProArg)
|
rs2065524568
|
|
NM_005334.3(HCFC1):c.790G>A (p.Gly264Arg)
|
|
|
NM_005334.3(HCFC1):c.80G>A (p.Gly27Asp)
|
|
|
NM_005334.3(HCFC1):c.932T>C (p.Met311Thr)
|
|
|
NM_005334.3(HCFC1):c.939A>G (p.Thr313=)
|
|
|
NM_005518.4(HMGCS2):c.*139C>A
|
rs965967252
|
|
NM_005518.4(HMGCS2):c.*155C>T
|
rs587686291
|
|
NM_005518.4(HMGCS2):c.*6-11_*6-8del
|
rs757178898
|
|
NM_005518.4(HMGCS2):c.1015G>A (p.Gly339Arg)
|
|
|
NM_005518.4(HMGCS2):c.1015G>T (p.Gly339Trp)
|
rs775277893
|
|
NM_005518.4(HMGCS2):c.103A>G (p.Arg35Gly)
|
rs1653321576
|
|
NM_005518.4(HMGCS2):c.1046A>G (p.Asn349Ser)
|
rs1025175254
|
|
NM_005518.4(HMGCS2):c.104G>T (p.Arg35Met)
|
rs751101083
|
|
NM_005518.4(HMGCS2):c.1078T>G (p.Ser360Ala)
|
rs1286992834
|
|
NM_005518.4(HMGCS2):c.1092C>G (p.Phe364Leu)
|
|
|
NM_005518.4(HMGCS2):c.1093G>A (p.Asp365Asn)
|
|
|
NM_005518.4(HMGCS2):c.1095C>G (p.Asp365Glu)
|
rs587690380
|
|
NM_005518.4(HMGCS2):c.1112C>G (p.Ser371Cys)
|
|
|
NM_005518.4(HMGCS2):c.1118A>C (p.Tyr373Ser)
|
rs1652805414
|
|
NM_005518.4(HMGCS2):c.1142T>G (p.Met381Arg)
|
rs771289268
|
|
NM_005518.4(HMGCS2):c.1156C>A (p.Leu386Met)
|
|
|
NM_005518.4(HMGCS2):c.1256G>A (p.Ser419Asn)
|
|
|
NM_005518.4(HMGCS2):c.1262T>G (p.Phe421Cys)
|
rs1652723339
|
|
NM_005518.4(HMGCS2):c.1316T>C (p.Val439Ala)
|
|
|
NM_005518.4(HMGCS2):c.1355G>A (p.Arg452Gln)
|
rs770800317
|
|
NM_005518.4(HMGCS2):c.1372G>A (p.Glu458Lys)
|
|
|
NM_005518.4(HMGCS2):c.1498C>T (p.Arg500Cys)
|
|
|
NM_005518.4(HMGCS2):c.1514G>A (p.Arg505Gln)
|
|
|
NM_005518.4(HMGCS2):c.158A>G (p.Asp53Gly)
|
|
|
NM_005518.4(HMGCS2):c.182T>G (p.Val61Gly)
|
|
|
NM_005518.4(HMGCS2):c.205G>A (p.Asp69Asn)
|
|
|
NM_005518.4(HMGCS2):c.245G>A (p.Gly82Glu)
|
rs1653149765
|
|
NM_005518.4(HMGCS2):c.279G>A (p.Met93Ile)
|
rs1557994090
|
|
NM_005518.4(HMGCS2):c.28C>A (p.Arg10Ser)
|
|
|
NM_005518.4(HMGCS2):c.334C>T (p.Arg112Trp)
|
|
|
NM_005518.4(HMGCS2):c.412T>C (p.Ser138Pro)
|
rs764209022
|
|
NM_005518.4(HMGCS2):c.428C>G (p.Thr143Arg)
|
rs760689678
|
|
NM_005518.4(HMGCS2):c.533A>G (p.Asn178Ser)
|
rs1386957244
|
|
NM_005518.4(HMGCS2):c.540G>T (p.Met180Ile)
|
rs1161245291
|
|
NM_005518.4(HMGCS2):c.559+5G>A
|
rs2101272766
|
|
NM_005518.4(HMGCS2):c.560-3C>T
|
rs1652986854
|
|
NM_005518.4(HMGCS2):c.56A>G (p.Gln19Arg)
|
rs2101283600
|
|
NM_005518.4(HMGCS2):c.589A>G (p.Ile197Val)
|
rs2101263939
|
|
NM_005518.4(HMGCS2):c.605G>A (p.Ser202Asn)
|
|
|
NM_005518.4(HMGCS2):c.621C>T (p.Pro207=)
|
rs886045207
|
|
NM_005518.4(HMGCS2):c.701A>G (p.His234Arg)
|
rs2101262615
|
|
NM_005518.4(HMGCS2):c.704T>C (p.Met235Thr)
|
rs773806829
|
|
NM_005518.4(HMGCS2):c.705G>A (p.Met235Ile)
|
rs2101262597
|
|
NM_005518.4(HMGCS2):c.73C>T (p.Pro25Ser)
|
rs144744634
|
|
NM_005518.4(HMGCS2):c.754A>G (p.Ile252Val)
|
|
|
NM_005518.4(HMGCS2):c.797T>C (p.Leu266Ser)
|
|
|
NM_005518.4(HMGCS2):c.79C>T (p.Arg27Cys)
|
|
|
NM_005518.4(HMGCS2):c.814T>C (p.Ser272Pro)
|
rs1571037413
|
|
NM_005518.4(HMGCS2):c.851C>G (p.Ala284Gly)
|
|
|
NM_005518.4(HMGCS2):c.866C>A (p.Pro289His)
|
rs146296049
|
|
NM_005518.4(HMGCS2):c.874C>A (p.Leu292Ile)
|
rs769844821
|
|
NM_005518.4(HMGCS2):c.887A>C (p.Gln296Pro)
|
|
|
NM_005518.4(HMGCS2):c.941G>A (p.Arg314His)
|
|
|
NM_005518.4(HMGCS2):c.973A>G (p.Ser325Gly)
|
|
|
NM_005530.3(IDH3A):c.805G>A (p.Gly269Ser)
|
|
|
NM_005589.4(ALDH6A1):c.*1386A>G
|
rs2060286462
|
|
NM_005589.4(ALDH6A1):c.*1427A>G
|
rs2060285999
|
|
NM_005589.4(ALDH6A1):c.*1938A>G
|
rs72725924
|
|
NM_005589.4(ALDH6A1):c.*1963C>T
|
rs185004947
|
|
NM_005589.4(ALDH6A1):c.*2261T>C
|
rs2060267487
|
|
NM_005589.4(ALDH6A1):c.*2422C>A
|
rs945573017
|
|
NM_005589.4(ALDH6A1):c.*43C>G
|
rs545399557
|
|
NM_005589.4(ALDH6A1):c.*97T>C
|
rs2060316331
|
|
NM_005589.4(ALDH6A1):c.-59A>C
|
rs886050733
|
|
NM_005589.4(ALDH6A1):c.-7G>A
|
rs749971767
|
|
NM_005589.4(ALDH6A1):c.112-14T>G
|
rs886050732
|
|
NM_005589.4(ALDH6A1):c.112-1G>A
|
rs1566834093
|
|
NM_005589.4(ALDH6A1):c.112-31GTTT[7]
|
rs370924173
|
|
NM_005589.4(ALDH6A1):c.1307A>G (p.Gln436Arg)
|
rs1037162967
|
|
NM_005589.4(ALDH6A1):c.1397T>C (p.Val466Ala)
|
rs764356053
|
|
NM_005589.4(ALDH6A1):c.1462C>T (p.Arg488Ter)
|
|
|
NM_005589.4(ALDH6A1):c.1479A>G (p.Gly493=)
|
rs886050730
|
|
NM_005589.4(ALDH6A1):c.1551AGA[2] (p.Glu519del)
|
rs771596943
|
|
NM_005589.4(ALDH6A1):c.189C>T (p.Ala63=)
|
rs886050731
|
|
NM_005589.4(ALDH6A1):c.248T>C (p.Ile83Thr)
|
|
|
NM_005589.4(ALDH6A1):c.349-3T>C
|
|
|
NM_005589.4(ALDH6A1):c.411T>C (p.Asp137=)
|
rs750775712
|
|
NM_005589.4(ALDH6A1):c.748G>T (p.Asp250Tyr)
|
rs761850051
|
|
NM_005589.4(ALDH6A1):c.759C>T (p.Asp253=)
|
rs375211888
|
|
NM_005589.4(ALDH6A1):c.856G>T (p.Ala286Ser)
|
rs1328953759
|
|
NM_005589.4(ALDH6A1):c.874_877dup (p.Met293fs)
|
rs751748364
|
|
NM_005629.4(SLC6A8):c.1009T>C (p.Cys337Arg)
|
rs2091468099
|
|
NM_005629.4(SLC6A8):c.1017-4_1023dup
|
rs2091469083
|
|
NM_005629.4(SLC6A8):c.1024ATC[1] (p.Ile343del)
|
rs2091469148
|
|
NM_005629.4(SLC6A8):c.1036C>G (p.Leu346Val)
|
|
|
NM_005629.4(SLC6A8):c.1048G>A (p.Gly350Arg)
|
rs2148363200
|
|
NM_005629.4(SLC6A8):c.1068C>T (p.Gly356=)
|
rs1603216989
|
|
NM_005629.4(SLC6A8):c.1072_1095del (p.Val358_Phe365del)
|
rs886041471
|
|
NM_005629.4(SLC6A8):c.107G>T (p.Gly36Val)
|
rs1557043804
|
|
NM_005629.4(SLC6A8):c.109C>T (p.Pro37Ser)
|
|
|
NM_005629.4(SLC6A8):c.1124C>G (p.Ser375Cys)
|
rs2148363255
|
|
NM_005629.4(SLC6A8):c.116G>A (p.Gly39Asp)
|
rs781997638
|
|
NM_005629.4(SLC6A8):c.1184T>C (p.Leu395Pro)
|
rs1557045281
|
|
NM_005629.4(SLC6A8):c.118C>A (p.Leu40Met)
|
|
|
NM_005629.4(SLC6A8):c.11A>G (p.Lys4Arg)
|
|
|
NM_005629.4(SLC6A8):c.1214T>C (p.Leu405Pro)
|
rs2091472678
|
|
NM_005629.4(SLC6A8):c.1232T>C (p.Leu411Ser)
|
rs2091472802
|
|
NM_005629.4(SLC6A8):c.1235T>C (p.Leu412Pro)
|
rs2148363751
|
|
NM_005629.4(SLC6A8):c.1246G>A (p.Asp416Asn)
|
|
|
NM_005629.4(SLC6A8):c.1247A>G (p.Asp416Gly)
|
rs2148363766
|
|
NM_005629.4(SLC6A8):c.1249A>C (p.Ser417Arg)
|
rs2091472899
|
|
NM_005629.4(SLC6A8):c.1251C>A (p.Ser417Arg)
|
|
|
NM_005629.4(SLC6A8):c.1258G>A (p.Val420Ile)
|
rs1569539415
|
|
NM_005629.4(SLC6A8):c.1262G>A (p.Gly421Asp)
|
rs1085308011
|
|
NM_005629.4(SLC6A8):c.1264G>A (p.Val422Met)
|
|
|
NM_005629.4(SLC6A8):c.1282G>A (p.Gly428Ser)
|
rs2060322395
|
|
NM_005629.4(SLC6A8):c.1285C>T (p.Leu429Phe)
|
|
|
NM_005629.4(SLC6A8):c.1294C>G (p.Leu432Val)
|
|
|
NM_005629.4(SLC6A8):c.12G>C (p.Lys4Asn)
|
|
|
NM_005629.4(SLC6A8):c.1301C>T (p.Pro434Leu)
|
rs2091474324
|
|
NM_005629.4(SLC6A8):c.130G>A (p.Gly44Ser)
|
rs2091437228
|
|
NM_005629.4(SLC6A8):c.1310A>G (p.Tyr437Cys)
|
rs1557045400
|
|
NM_005629.4(SLC6A8):c.1323C>G (p.Phe441Leu)
|
|
|
NM_005629.4(SLC6A8):c.1330G>A (p.Glu444Lys)
|
|
|
NM_005629.4(SLC6A8):c.1333A>T (p.Ile445Phe)
|
rs2091474639
|
|
NM_005629.4(SLC6A8):c.1350_1361del (p.Cys451_Cys454del)
|
rs2148364040
|
|
NM_005629.4(SLC6A8):c.1366G>A (p.Val456Ile)
|
|
|
NM_005629.4(SLC6A8):c.137G>T (p.Arg46Leu)
|
|
|
NM_005629.4(SLC6A8):c.1392+14_1392+38del
|
|
|
NM_005629.4(SLC6A8):c.1392T>C (p.Asp464=)
|
|
|
NM_005629.4(SLC6A8):c.1392_1392+2dup
|
|
|
NM_005629.4(SLC6A8):c.1393-19A>G
|
|
|
NM_005629.4(SLC6A8):c.1393-6C>G
|
rs2148364146
|
|
NM_005629.4(SLC6A8):c.1418T>C (p.Phe473Ser)
|
rs2148364186
|
|
NM_005629.4(SLC6A8):c.1438G>A (p.Gly480Ser)
|
rs2148364228
|
|
NM_005629.4(SLC6A8):c.1439G>A (p.Gly480Asp)
|
|
|
NM_005629.4(SLC6A8):c.145G>C (p.Val49Leu)
|
rs1463935788
|
|
NM_005629.4(SLC6A8):c.1476G>A (p.Val492=)
|
|
|
NM_005629.4(SLC6A8):c.1478T>C (p.Val493Ala)
|
|
|
NM_005629.4(SLC6A8):c.148C>T (p.Pro50Ser)
|
rs2148358552
|
|
NM_005629.4(SLC6A8):c.1495+4G>A
|
|
|
NM_005629.4(SLC6A8):c.1495G>A (p.Gly499Arg)
|
|
|
NM_005629.4(SLC6A8):c.1498G>A (p.Ala500Thr)
|
rs2148364400
|
|
NM_005629.4(SLC6A8):c.149C>A (p.Pro50Gln)
|
|
|
NM_005629.4(SLC6A8):c.1501G>A (p.Asp501Asn)
|
rs2091476989
|
|
NM_005629.4(SLC6A8):c.1515C>G (p.Asp505Glu)
|
rs151335200
|
|
NM_005629.4(SLC6A8):c.1526G>A (p.Cys509Tyr)
|
rs2148364452
|
|
NM_005629.4(SLC6A8):c.1527T>G (p.Cys509Trp)
|
rs2148364458
|
|
NM_005629.4(SLC6A8):c.152C>T (p.Pro51Leu)
|
rs2091437446
|
|
NM_005629.4(SLC6A8):c.1541G>C (p.Arg514Pro)
|
|
|
NM_005629.4(SLC6A8):c.1557G>A (p.Met519Ile)
|
|
|
NM_005629.4(SLC6A8):c.1574T>C (p.Phe525Ser)
|
|
|
NM_005629.4(SLC6A8):c.1596+6G>A
|
|
|
NM_005629.4(SLC6A8):c.1624T>C (p.Tyr542His)
|
rs2148364687
|
|
NM_005629.4(SLC6A8):c.1639T>C (p.Tyr547His)
|
|
|
NM_005629.4(SLC6A8):c.1640ACA[2] (p.Asn549del)
|
rs781807874
|
|
NM_005629.4(SLC6A8):c.1703C>A (p.Ser568Tyr)
|
rs1603217815
|
|
NM_005629.4(SLC6A8):c.1713C>G (p.Cys571Trp)
|
rs782244505
|
|
NM_005629.4(SLC6A8):c.1721T>C (p.Leu574Pro)
|
|
|
NM_005629.4(SLC6A8):c.1732G>A (p.Gly578Ser)
|
|
|
NM_005629.4(SLC6A8):c.1738C>G (p.Leu580Val)
|
|
|
NM_005629.4(SLC6A8):c.1760T>C (p.Met587Thr)
|
|
|
NM_005629.4(SLC6A8):c.1767+6G>C
|
|
|
NM_005629.4(SLC6A8):c.1767+9C>G
|
rs782076464
|
|
NM_005629.4(SLC6A8):c.1790C>T (p.Pro597Leu)
|
rs1060502811
|
|
NM_005629.4(SLC6A8):c.1794C>G (p.Ile598Met)
|
rs782587560
|
|
NM_005629.4(SLC6A8):c.1798G>A (p.Gly600Ser)
|
rs1557045828
|
|
NM_005629.4(SLC6A8):c.1799G>A (p.Gly600Asp)
|
rs2148365237
|
|
NM_005629.4(SLC6A8):c.1809C>G (p.His603Gln)
|
|
|
NM_005629.4(SLC6A8):c.1813G>A (p.Glu605Lys)
|
|
|
NM_005629.4(SLC6A8):c.1819C>T (p.Arg607Ter)
|
rs1377233837
|
|
NM_005629.4(SLC6A8):c.1820G>A (p.Arg607Gln)
|
rs1557045843
|
|
NM_005629.4(SLC6A8):c.1828G>C (p.Asp610His)
|
rs2148365271
|
|
NM_005629.4(SLC6A8):c.1846C>A (p.Leu616Met)
|
|
|
NM_005629.4(SLC6A8):c.1853C>T (p.Thr618Ile)
|
rs1557045853
|
|
NM_005629.4(SLC6A8):c.1864G>C (p.Val622Leu)
|
rs1160275875
|
|
NM_005629.4(SLC6A8):c.1881_1882insT (p.Val628fs)
|
|
|
NM_005629.4(SLC6A8):c.1901T>A (p.Val634Asp)
|
rs1236176576
|
|
NM_005629.4(SLC6A8):c.191_193del (p.Ser64del)
|
rs2091437670
|
|
NM_005629.4(SLC6A8):c.196G>A (p.Val66Met)
|
|
|
NM_005629.4(SLC6A8):c.230G>A (p.Arg77His)
|
|
|
NM_005629.4(SLC6A8):c.237C>G (p.Pro79=)
|
rs2148358626
|
|
NM_005629.4(SLC6A8):c.238T>G (p.Tyr80Asp)
|
|
|
NM_005629.4(SLC6A8):c.242T>G (p.Leu81Arg)
|
|
|
NM_005629.4(SLC6A8):c.259G>A (p.Gly87Arg)
|
rs122453115
|
|
NM_005629.4(SLC6A8):c.25G>T (p.Gly9Cys)
|
rs2091436097
|
|
NM_005629.4(SLC6A8):c.263-3C>T
|
rs1557044164
|
|
NM_005629.4(SLC6A8):c.263G>A (p.Gly88Asp)
|
|
|
NM_005629.4(SLC6A8):c.305G>A (p.Gly102Glu)
|
rs2148360123
|
|
NM_005629.4(SLC6A8):c.322T>A (p.Leu108Ile)
|
rs2148360140
|
|
NM_005629.4(SLC6A8):c.327G>T (p.Glu109Asp)
|
|
|
NM_005629.4(SLC6A8):c.332C>T (p.Ser111Leu)
|
rs782704042
|
|
NM_005629.4(SLC6A8):c.340C>A (p.Gln114Lys)
|
rs1569539246
|
|
NM_005629.4(SLC6A8):c.395-3C>T
|
|
|
NM_005629.4(SLC6A8):c.406G>A (p.Ala136Thr)
|
rs1557044406
|
|
NM_005629.4(SLC6A8):c.407C>G (p.Ala136Gly)
|
|
|
NM_005629.4(SLC6A8):c.407C>T (p.Ala136Val)
|
|
|
NM_005629.4(SLC6A8):c.413T>A (p.Met138Lys)
|
|
|
NM_005629.4(SLC6A8):c.420C>G (p.Ile140Met)
|
|
|
NM_005629.4(SLC6A8):c.437C>T (p.Thr146Ile)
|
|
|
NM_005629.4(SLC6A8):c.464G>T (p.Gly155Val)
|
|
|
NM_005629.4(SLC6A8):c.467_469del (p.Phe156del)
|
rs2091455264
|
|
NM_005629.4(SLC6A8):c.48C>A (p.Asp16Glu)
|
rs1057524586
|
|
NM_005629.4(SLC6A8):c.496A>G (p.Thr166Ala)
|
rs1603215030
|
|
NM_005629.4(SLC6A8):c.51G>C (p.Glu17Asp)
|
rs2091436339
|
|
NM_005629.4(SLC6A8):c.524C>T (p.Thr175Ile)
|
|
|
NM_005629.4(SLC6A8):c.527G>C (p.Trp176Ser)
|
rs2148361058
|
|
NM_005629.4(SLC6A8):c.548A>G (p.Glu183Gly)
|
|
|
NM_005629.4(SLC6A8):c.581G>A (p.Ser194Asn)
|
|
|
NM_005629.4(SLC6A8):c.592C>A (p.Leu198Ile)
|
rs1557044451
|
|
NM_005629.4(SLC6A8):c.593T>G (p.Leu198Arg)
|
|
|
NM_005629.4(SLC6A8):c.602A>G (p.Asp201Gly)
|
|
|
NM_005629.4(SLC6A8):c.611C>T (p.Ala204Val)
|
rs781871613
|
|
NM_005629.4(SLC6A8):c.617G>A (p.Arg206His)
|
|
|
NM_005629.4(SLC6A8):c.631_633delinsTGG (p.Ile211Trp)
|
|
|
NM_005629.4(SLC6A8):c.644+3_644+6del
|
rs1064795351
|
|
NM_005629.4(SLC6A8):c.644A>G (p.Glu215Gly)
|
rs2091456256
|
|
NM_005629.4(SLC6A8):c.645-16_645-15inv
|
|
|
NM_005629.4(SLC6A8):c.667G>A (p.Gly223Arg)
|
|
|
NM_005629.4(SLC6A8):c.706A>T (p.Thr236Ser)
|
rs1328810626
|
|
NM_005629.4(SLC6A8):c.742T>C (p.Phe248Leu)
|
|
|
NM_005629.4(SLC6A8):c.777+6A>G
|
rs2148361744
|
|
NM_005629.4(SLC6A8):c.778-10G>A
|
|
|
NM_005629.4(SLC6A8):c.787T>C (p.Phe263Leu)
|
|
|
NM_005629.4(SLC6A8):c.841C>A (p.Leu281Met)
|
rs2091466286
|
|
NM_005629.4(SLC6A8):c.859G>C (p.Asp287His)
|
|
|
NM_005629.4(SLC6A8):c.864C>T (p.Gly288=)
|
rs2148362802
|
|
NM_005629.4(SLC6A8):c.868A>G (p.Ile290Val)
|
|
|
NM_005629.4(SLC6A8):c.8AGA[1] (p.Lys4del)
|
rs2148358298
|
|
NM_005629.4(SLC6A8):c.901G>C (p.Gly301Arg)
|
rs2091466491
|
|
NM_005629.4(SLC6A8):c.912+6G>C
|
|
|
NM_005629.4(SLC6A8):c.912G>C (p.Gln304His)
|
rs1064794836
|
|
NM_005629.4(SLC6A8):c.91C>A (p.Pro31Thr)
|
|
|
NM_005629.4(SLC6A8):c.947C>T (p.Ser316Phe)
|
rs2148362940
|
|
NM_005629.4(SLC6A8):c.964G>C (p.Gly322Arg)
|
rs1603216830
|
|
NM_005629.4(SLC6A8):c.993C>G (p.Asn331Lys)
|
|
|
NM_005763.4(AASS):c.1733A>G (p.Tyr578Cys)
|
|
|
NM_005763.4(AASS):c.1876A>G (p.Ile626Val)
|
rs1793918338
|
|
NM_005802.5(TOPORS):c.*350A>G
|
rs979887725
|
|
NM_005802.5(TOPORS):c.*358T>C
|
rs1821048003
|
|
NM_005802.5(TOPORS):c.*430A>G
|
rs1821046786
|
|
NM_005802.5(TOPORS):c.*506A>G
|
rs886063851
|
|
NM_005802.5(TOPORS):c.1379G>C (p.Gly460Ala)
|
rs146483990
|
|
NM_005802.5(TOPORS):c.143G>T (p.Gly48Val)
|
rs1587627051
|
|
NM_005802.5(TOPORS):c.1817G>A (p.Ser606Asn)
|
rs1821086096
|
|
NM_005802.5(TOPORS):c.199-9C>T
|
rs1176852169
|
|
NM_005802.5(TOPORS):c.2006G>A (p.Arg669Lys)
|
rs1563983554
|
|
NM_005802.5(TOPORS):c.2038AGA[1] (p.Arg681del)
|
rs1467439518
|
|
NM_005802.5(TOPORS):c.2161A>G (p.Arg721Gly)
|
rs794727506
|
|
NM_005802.5(TOPORS):c.223T>C (p.Phe75Leu)
|
rs1821114318
|
|
NM_005802.5(TOPORS):c.2319_2320delinsCG (p.Ser774Gly)
|
rs1563983313
|
|
NM_005802.5(TOPORS):c.2321G>A (p.Ser774Asn)
|
rs1821074946
|
|
NM_005802.5(TOPORS):c.2666A>G (p.His889Arg)
|
rs762457246
|
|
NM_005802.5(TOPORS):c.2797G>T (p.Asp933Tyr)
|
rs761851969
|
|
NM_005802.5(TOPORS):c.2866G>C (p.Glu956Gln)
|
|
|
NM_005802.5(TOPORS):c.3038G>A (p.Ser1013Asn)
|
rs1821057345
|
|
NM_005802.5(TOPORS):c.3126_3127del (p.Cys1042_Asp1043delinsTer)
|
rs776001696
|
|
NM_005802.5(TOPORS):c.487C>T (p.Leu163=)
|
rs1319962569
|
|
NM_005802.5(TOPORS):c.74C>T (p.Ser25Leu)
|
rs61758066
|
|
NM_005802.5(TOPORS):c.842T>A (p.Ile281Asn)
|
rs1302485735
|
|
NM_005881.4(BCKDK):c.1010A>G (p.Glu337Gly)
|
rs199838222
|
|
NM_005881.4(BCKDK):c.117C>G (p.His39Gln)
|
|
|
NM_005881.4(BCKDK):c.1202G>A (p.Arg401His)
|
|
|
NM_005881.4(BCKDK):c.193A>G (p.Lys65Glu)
|
rs1596808163
|
|
NM_005881.4(BCKDK):c.196-8del
|
rs1596808347
|
|
NM_005881.4(BCKDK):c.31C>T (p.Pro11Ser)
|
rs764651763
|
|
NM_005881.4(BCKDK):c.347T>C (p.Ile116Thr)
|
rs746459006
|
|
NM_005881.4(BCKDK):c.34G>A (p.Gly12Arg)
|
rs1414828775
|
|
NM_005881.4(BCKDK):c.364A>G (p.Ile122Val)
|
|
|
NM_005881.4(BCKDK):c.486C>A (p.His162Gln)
|
|
|
NM_005881.4(BCKDK):c.500C>A (p.Thr167Asn)
|
rs2057399952
|
|
NM_005881.4(BCKDK):c.544-8C>G
|
rs1337089151
|
|
NM_005881.4(BCKDK):c.743A>G (p.Asn248Ser)
|
|
|
NM_005881.4(BCKDK):c.793A>C (p.Ile265Leu)
|
rs2057409516
|
|
NM_005881.4(BCKDK):c.846-3T>A
|
rs118042732
|
|
NM_005881.4(BCKDK):c.846-3T>C
|
rs118042732
|
|
NM_005957.5(MTHFR):c.-13-28_-13-12del
|
|
|
NM_005957.5(MTHFR):c.-13-28_-13-27del
|
rs1553188112
|
|
NM_005957.5(MTHFR):c.1004G>C (p.Arg335Pro)
|
|
|
NM_005957.5(MTHFR):c.101C>T (p.Thr34Ile)
|
|
|
NM_005957.5(MTHFR):c.1037C>G (p.Pro346Arg)
|
|
|
NM_005957.5(MTHFR):c.1060C>T (p.His354Tyr)
|
rs786204022
|
|
NM_005957.5(MTHFR):c.1064C>T (p.Pro355Leu)
|
rs794727869
|
|
NM_005957.5(MTHFR):c.1073G>A (p.Arg358Gln)
|
|
|
NM_005957.5(MTHFR):c.1078G>A (p.Glu360Lys)
|
|
|
NM_005957.5(MTHFR):c.107G>T (p.Gly36Val)
|
|
|
NM_005957.5(MTHFR):c.10G>A (p.Glu4Lys)
|
|
|
NM_005957.5(MTHFR):c.1117A>T (p.Ser373Cys)
|
rs1570474242
|
|
NM_005957.5(MTHFR):c.1129C>A (p.Arg377Ser)
|
|
|
NM_005957.5(MTHFR):c.1160G>A (p.Gly387Asp)
|
|
|
NM_005957.5(MTHFR):c.1167G>C (p.Trp389Cys)
|
rs1570473609
|
|
NM_005957.5(MTHFR):c.1175C>T (p.Ser392Phe)
|
|
|
NM_005957.5(MTHFR):c.1204_1206del (p.Asp402del)
|
|
|
NM_005957.5(MTHFR):c.1223T>G (p.Leu408Arg)
|
|
|
NM_005957.5(MTHFR):c.1228A>G (p.Ser410Gly)
|
rs2100525175
|
|
NM_005957.5(MTHFR):c.1228_1242del (p.Ser410_Lys414del)
|
rs1297161027
|
|
NM_005957.5(MTHFR):c.1252_1275dup (p.Leu418_Leu425dup)
|
rs1334349459
|
|
NM_005957.5(MTHFR):c.1305_1306delinsTA (p.Val436Ile)
|
|
|
NM_005957.5(MTHFR):c.1310T>A (p.Leu437His)
|
|
|
NM_005957.5(MTHFR):c.1320G>T (p.Ser440=)
|
rs367585605
|
|
NM_005957.5(MTHFR):c.1334G>A (p.Arg445Gln)
|
|
|
NM_005957.5(MTHFR):c.1337A>G (p.Asn446Ser)
|
|
|
NM_005957.5(MTHFR):c.1407G>C (p.Glu469Asp)
|
rs2100519489
|
|
NM_005957.5(MTHFR):c.1417C>T (p.Arg473Trp)
|
|
|
NM_005957.5(MTHFR):c.1418G>A (p.Arg473Gln)
|
|
|
NM_005957.5(MTHFR):c.145A>G (p.Met49Val)
|
rs1570498105
|
|
NM_005957.5(MTHFR):c.1475C>T (p.Pro492Leu)
|
|
|
NM_005957.5(MTHFR):c.1514G>C (p.Gly505Ala)
|
|
|
NM_005957.5(MTHFR):c.1528A>G (p.Lys510Glu)
|
rs1425929014
|
|
NM_005957.5(MTHFR):c.1529A>C (p.Lys510Thr)
|
rs753049408
|
|
NM_005957.5(MTHFR):c.1530+6G>A
|
|
|
NM_005957.5(MTHFR):c.1531-12T>A
|
|
|
NM_005957.5(MTHFR):c.1556G>A (p.Arg519His)
|
|
|
NM_005957.5(MTHFR):c.1571C>G (p.Ala524Gly)
|
rs774934088
|
|
NM_005957.5(MTHFR):c.1604G>A (p.Arg535Gln)
|
|
|
NM_005957.5(MTHFR):c.1606G>T (p.Val536Phe)
|
rs786204028
|
|
NM_005957.5(MTHFR):c.1616A>G (p.His539Arg)
|
|
|
NM_005957.5(MTHFR):c.1621G>T (p.Val541Phe)
|
rs1644131560
|
|
NM_005957.5(MTHFR):c.162A>T (p.Glu54Asp)
|
rs753692902
|
|
NM_005957.5(MTHFR):c.1646_1648del (p.Thr549del)
|
|
|
NM_005957.5(MTHFR):c.1690T>C (p.Phe564Leu)
|
|
|
NM_005957.5(MTHFR):c.1700G>A (p.Arg567Gln)
|
|
|
NM_005957.5(MTHFR):c.1753-16G>A
|
|
|
NM_005957.5(MTHFR):c.1753-22_1753-3del
|
rs752911686
|
|
NM_005957.5(MTHFR):c.1753-34_1753-19del
|
|
|
NM_005957.5(MTHFR):c.1753-3T>G
|
|
|
NM_005957.5(MTHFR):c.1780C>T (p.Arg594Trp)
|
|
|
NM_005957.5(MTHFR):c.1793T>C (p.Leu598Pro)
|
rs786204034
|
|
NM_005957.5(MTHFR):c.1796A>G (p.Tyr599Cys)
|
rs2100495013
|
|
NM_005957.5(MTHFR):c.1798GAG[2] (p.Glu602del)
|
|
|
NM_005957.5(MTHFR):c.17G>A (p.Arg6Lys)
|
|
|
NM_005957.5(MTHFR):c.1804_1805inv (p.Glu602Ser)
|
|
|
NM_005957.5(MTHFR):c.1816C>T (p.Arg606Cys)
|
|
|
NM_005957.5(MTHFR):c.1817G>A (p.Arg606His)
|
|
|
NM_005957.5(MTHFR):c.1840G>A (p.Asp614Asn)
|
rs879406669
|
|
NM_005957.5(MTHFR):c.1860C>G (p.Asn620Lys)
|
|
|
NM_005957.5(MTHFR):c.1886A>G (p.Asp629Gly)
|
|
|
NM_005957.5(MTHFR):c.1892G>A (p.Cys631Tyr)
|
|
|
NM_005957.5(MTHFR):c.1934G>A (p.Arg645Lys)
|
|
|
NM_005957.5(MTHFR):c.1945A>G (p.Asn649Asp)
|
|
|
NM_005957.5(MTHFR):c.1947T>G (p.Asn649Lys)
|
|
|
NM_005957.5(MTHFR):c.1952G>A (p.Arg651Lys)
|
|
|
NM_005957.5(MTHFR):c.199C>T (p.Pro67Ser)
|
rs1644422806
|
|
NM_005957.5(MTHFR):c.240T>G (p.Phe80Leu)
|
rs541505625
|
|
NM_005957.5(MTHFR):c.245G>A (p.Arg82Gln)
|
|
|
NM_005957.5(MTHFR):c.260G>A (p.Gly87Asp)
|
|
|
NM_005957.5(MTHFR):c.265C>G (p.Leu89Val)
|
rs1042792109
|
|
NM_005957.5(MTHFR):c.271A>G (p.Ile91Val)
|
|
|
NM_005957.5(MTHFR):c.29G>C (p.Ser10Thr)
|
|
|
NM_005957.5(MTHFR):c.334A>G (p.Ile112Val)
|
rs1421914910
|
|
NM_005957.5(MTHFR):c.346G>A (p.Ala116Thr)
|
rs1056919085
|
|
NM_005957.5(MTHFR):c.36C>A (p.Asn12Lys)
|
|
|
NM_005957.5(MTHFR):c.394C>T (p.Arg132Cys)
|
|
|
NM_005957.5(MTHFR):c.395G>A (p.Arg132His)
|
|
|
NM_005957.5(MTHFR):c.401G>A (p.Arg134His)
|
|
|
NM_005957.5(MTHFR):c.421C>G (p.His141Asp)
|
|
|
NM_005957.5(MTHFR):c.469C>A (p.Arg157=)
|
rs776195746
|
|
NM_005957.5(MTHFR):c.475+4T>C
|
|
|
NM_005957.5(MTHFR):c.476-9A>G
|
rs2100562141
|
|
NM_005957.5(MTHFR):c.4G>A (p.Val2Met)
|
|
|
NM_005957.5(MTHFR):c.524C>A (p.Ala175Glu)
|
|
|
NM_005957.5(MTHFR):c.571G>A (p.Asp191Asn)
|
|
|
NM_005957.5(MTHFR):c.587-11C>G
|
|
|
NM_005957.5(MTHFR):c.589T>G (p.Tyr197Asp)
|
rs776901659
|
|
NM_005957.5(MTHFR):c.58A>G (p.Ser20Gly)
|
|
|
NM_005957.5(MTHFR):c.62G>A (p.Ser21Asn)
|
|
|
NM_005957.5(MTHFR):c.638A>G (p.His213Arg)
|
|
|
NM_005957.5(MTHFR):c.643_645del (p.Lys215del)
|
rs746353274
|
|
NM_005957.5(MTHFR):c.652G>T (p.Val218Leu)
|
rs1644255161
|
|
NM_005957.5(MTHFR):c.659C>T (p.Ala220Val)
|
|
|
NM_005957.5(MTHFR):c.676A>G (p.Ile226Val)
|
rs773410203
|
|
NM_005957.5(MTHFR):c.707T>C (p.Phe236Ser)
|
|
|
NM_005957.5(MTHFR):c.708C>G (p.Phe236Leu)
|
|
|
NM_005957.5(MTHFR):c.712C>T (p.Arg238Cys)
|
|
|
NM_005957.5(MTHFR):c.725C>G (p.Ala242Gly)
|
|
|
NM_005957.5(MTHFR):c.733G>A (p.Asp245Asn)
|
|
|
NM_005957.5(MTHFR):c.737T>C (p.Met246Thr)
|
|
|
NM_005957.5(MTHFR):c.755T>A (p.Ile252Asn)
|
rs2100537636
|
|
NM_005957.5(MTHFR):c.755T>G (p.Ile252Ser)
|
|
|
NM_005957.5(MTHFR):c.760C>T (p.Pro254Ser)
|
rs786204017
|
|
NM_005957.5(MTHFR):c.776T>C (p.Ile259Thr)
|
rs1570478057
|
|
NM_005957.5(MTHFR):c.780+3G>A
|
|
|
NM_005957.5(MTHFR):c.782G>T (p.Gly261Val)
|
rs747665983
|
|
NM_005957.5(MTHFR):c.892G>A (p.Gly298Ser)
|
|
|
NM_005957.5(MTHFR):c.905C>G (p.Ala302Gly)
|
|
|
NM_005957.5(MTHFR):c.932C>A (p.Ala311Asp)
|
|
|
NM_005957.5(MTHFR):c.947C>T (p.Pro316Leu)
|
|
|
NM_005957.5(MTHFR):c.998T>A (p.Leu333Gln)
|
|
|
NM_006017.3(PROM1):c.*107G>T
|
rs1024479425
|
|
NM_006017.3(PROM1):c.*1143A>C
|
rs544424652
|
|
NM_006017.3(PROM1):c.*1160A>G
|
rs886059194
|
|
NM_006017.3(PROM1):c.*551A>T
|
rs886059197
|
|
NM_006017.3(PROM1):c.*640T>A
|
rs1713667197
|
|
NM_006017.3(PROM1):c.1036A>G (p.Asn346Asp)
|
rs1414948996
|
|
NM_006017.3(PROM1):c.105A>G (p.Glu35=)
|
rs886059205
|
|
NM_006017.3(PROM1):c.1218C>G (p.Leu406=)
|
rs886059203
|
|
NM_006017.3(PROM1):c.1271T>C (p.Leu424Ser)
|
rs886059202
|
|
NM_006017.3(PROM1):c.1279T>A (p.Leu427Met)
|
rs200710798
|
|
NM_006017.3(PROM1):c.158G>A (p.Gly53Asp)
|
rs755064227
|
|
NM_006017.3(PROM1):c.1871G>A (p.Cys624Tyr)
|
rs886059200
|
|
NM_006017.3(PROM1):c.1954T>G (p.Tyr652Asp)
|
rs768320190
|
|
NM_006017.3(PROM1):c.2050C>G (p.Arg684Gly)
|
rs530749007
|
|
NM_006017.3(PROM1):c.2094C>A (p.Ser698Arg)
|
rs199727800
|
|
NM_006017.3(PROM1):c.2281-5C>G
|
rs777654968
|
|
NM_006017.3(PROM1):c.2373+13C>G
|
rs886059199
|
|
NM_006017.3(PROM1):c.2480T>C (p.Val827Ala)
|
rs886059198
|
|
NM_006017.3(PROM1):c.2489+8T>C
|
rs1433533825
|
|
NM_006017.3(PROM1):c.2508G>A (p.Met836Ile)
|
rs534529507
|
|
NM_006017.3(PROM1):c.250T>A (p.Tyr84Asn)
|
rs1734560540
|
|
NM_006017.3(PROM1):c.380G>T (p.Gly127Val)
|
rs1733212554
|
|
NM_006269.2(RP1):c.-12-12T>C
|
rs886062988
|
|
NM_006269.2(RP1):c.104C>T (p.Ala35Val)
|
rs1805847793
|
|
NM_006269.2(RP1):c.1280A>C (p.Asn427Thr)
|
rs1331133343
|
|
NM_006269.2(RP1):c.1510T>C (p.Ser504Pro)
|
rs530033470
|
|
NM_006269.2(RP1):c.2017A>G (p.Lys673Glu)
|
rs766341403
|
|
NM_006269.2(RP1):c.2239A>G (p.Ser747Gly)
|
rs1806038181
|
|
NM_006269.2(RP1):c.2247C>G (p.Leu749=)
|
rs1330376739
|
|
NM_006269.2(RP1):c.2524G>A (p.Val842Met)
|
rs886062991
|
|
NM_006269.2(RP1):c.2545G>A (p.Gly849Arg)
|
rs1806051809
|
|
NM_006269.2(RP1):c.3034C>T (p.Leu1012=)
|
rs1371672240
|
|
NM_006269.2(RP1):c.3295C>G (p.His1099Asp)
|
rs1806083205
|
|
NM_006269.2(RP1):c.32T>A (p.Ile11Asn)
|
|
|
NM_006269.2(RP1):c.3357T>G (p.Ser1119=)
|
rs1806085195
|
|
NM_006269.2(RP1):c.3796A>C (p.Lys1266Gln)
|
rs1806109030
|
|
NM_006269.2(RP1):c.3870G>T (p.Gln1290His)
|
rs886062993
|
|
NM_006269.2(RP1):c.4379G>T (p.Arg1460Ile)
|
rs758211043
|
|
NM_006269.2(RP1):c.4606C>T (p.Pro1536Ser)
|
rs767248972
|
|
NM_006269.2(RP1):c.461G>A (p.Arg154Gln)
|
|
|
NM_006269.2(RP1):c.4685T>A (p.Met1562Lys)
|
rs774074476
|
|
NM_006269.2(RP1):c.4897G>T (p.Glu1633Ter)
|
rs982929068
|
|
NM_006269.2(RP1):c.5074A>C (p.Met1692Leu)
|
rs886062994
|
|
NM_006269.2(RP1):c.5585G>T (p.Arg1862Ile)
|
rs777277564
|
|
NM_006269.2(RP1):c.578G>C (p.Arg193Pro)
|
rs754949406
|
|
NM_006269.2(RP1):c.5873A>G (p.Tyr1958Cys)
|
rs776604527
|
|
NM_006269.2(RP1):c.6119C>A (p.Ser2040Ter)
|
rs1563333726
|
|
NM_006269.2(RP1):c.6255A>T (p.Gln2085His)
|
rs886062995
|
|
NM_006269.2(RP1):c.6423dup (p.Leu2142fs)
|
rs1563333973
|
|
NM_006269.2(RP1):c.871G>T (p.Asp291Tyr)
|
|
|
NM_006269.2(RP1):c.883G>A (p.Val295Ile)
|
rs1321792993
|
|
NM_006269.2(RP1):c.961_963del (p.Lys321del)
|
rs2129315881
|
|
NM_006343.3(MERTK):c.*57T>A
|
rs886054760
|
|
NM_006343.3(MERTK):c.1405G>T (p.Val469Phe)
|
rs79943145
|
|
NM_006343.3(MERTK):c.1719A>G (p.Leu573=)
|
rs886054758
|
|
NM_006343.3(MERTK):c.1960+8C>T
|
rs112541306
|
|
NM_006343.3(MERTK):c.2081A>G (p.His694Arg)
|
rs886054759
|
|
NM_006343.3(MERTK):c.2135A>G (p.Glu712Gly)
|
rs1677288107
|
|
NM_006343.3(MERTK):c.2173G>C (p.Ala725Pro)
|
|
|
NM_006343.3(MERTK):c.2189T>G (p.Met730Arg)
|
|
|
NM_006343.3(MERTK):c.2435A>C (p.Tyr812Ser)
|
rs141361084
|
|
NM_006343.3(MERTK):c.2467G>C (p.Glu823Gln)
|
rs55924349
|
|
NM_006343.3(MERTK):c.2590G>A (p.Val864Ile)
|
rs557004700
|
|
NM_006343.3(MERTK):c.2590G>T (p.Val864Phe)
|
rs557004700
|
|
NM_006343.3(MERTK):c.27G>A (p.Leu9=)
|
rs1683973924
|
|
NM_006343.3(MERTK):c.2957del (p.Leu986fs)
|
rs763144375
|
|
NM_006343.3(MERTK):c.597T>A (p.Phe199Leu)
|
rs1573591956
|
|
NM_006343.3(MERTK):c.634A>C (p.Thr212Pro)
|
rs2104704629
|
|
NM_006343.3(MERTK):c.709C>T (p.Arg237Cys)
|
rs770812369
|
|
NM_006343.3(MERTK):c.734C>A (p.Ser245Tyr)
|
rs2104704713
|
|
NM_006343.3(MERTK):c.756A>C (p.Pro252=)
|
rs3761702
|
|
NM_006343.3(MERTK):c.773C>A (p.Ala258Glu)
|
rs35252762
|
|
NM_006343.3(MERTK):c.782G>C (p.Ser261Thr)
|
rs142284609
|
|
NM_006445.4(PRPF8):c.*36C>T
|
rs776962939
|
|
NM_006445.4(PRPF8):c.*72C>G
|
rs758889910
|
|
NM_006445.4(PRPF8):c.-15T>A
|
rs886052618
|
|
NM_006445.4(PRPF8):c.-34C>T
|
rs886052621
|
|
NM_006445.4(PRPF8):c.-43G>A
|
rs575056329
|
|
NM_006445.4(PRPF8):c.-43G>C
|
rs575056329
|
|
NM_006445.4(PRPF8):c.-4G>T
|
rs886052617
|
|
NM_006445.4(PRPF8):c.-76A>G
|
rs765014520
|
|
NM_006445.4(PRPF8):c.101-8C>T
|
rs369806898
|
|
NM_006445.4(PRPF8):c.104G>T (p.Arg35Leu)
|
rs774010147
|
|
NM_006445.4(PRPF8):c.1208C>T (p.Ala403Val)
|
rs1912802818
|
|
NM_006445.4(PRPF8):c.1653G>A (p.Leu551=)
|
rs1912753368
|
|
NM_006445.4(PRPF8):c.1684G>A (p.Val562Met)
|
rs777124467
|
|
NM_006445.4(PRPF8):c.2140A>G (p.Ser714Gly)
|
|
|
NM_006445.4(PRPF8):c.239del (p.Lys80fs)
|
rs1913055670
|
|
NM_006445.4(PRPF8):c.2680-9G>A
|
rs886052614
|
|
NM_006445.4(PRPF8):c.3061-9T>C
|
rs1912518161
|
|
NM_006445.4(PRPF8):c.3081A>C (p.Ser1027=)
|
rs201573889
|
|
NM_006445.4(PRPF8):c.3081A>T (p.Ser1027=)
|
rs201573889
|
|
NM_006445.4(PRPF8):c.3154G>T (p.Val1052Leu)
|
rs886052613
|
|
NM_006445.4(PRPF8):c.3166C>T (p.His1056Tyr)
|
|
|
NM_006445.4(PRPF8):c.3252C>G (p.Pro1084=)
|
rs746764862
|
|
NM_006445.4(PRPF8):c.3368A>G (p.Glu1123Gly)
|
rs1912457869
|
|
NM_006445.4(PRPF8):c.3657+9T>C
|
rs886052612
|
|
NM_006445.4(PRPF8):c.3666G>A (p.Lys1222=)
|
rs549397527
|
|
NM_006445.4(PRPF8):c.534T>C (p.Tyr178=)
|
rs886052616
|
|
NM_006445.4(PRPF8):c.5619+2T>C
|
rs1911406583
|
|
NM_006445.4(PRPF8):c.5803C>T (p.Arg1935Cys)
|
rs1911322255
|
|
NM_006445.4(PRPF8):c.6062A>T (p.Gln2021Leu)
|
|
|
NM_006445.4(PRPF8):c.6334AAG[1] (p.Lys2113del)
|
rs1911196248
|
|
NM_006445.4(PRPF8):c.6414G>C (p.Gln2138His)
|
rs1911084608
|
|
NM_006445.4(PRPF8):c.6466A>C (p.Thr2156Pro)
|
rs2151109770
|
|
NM_006445.4(PRPF8):c.6480_6491del (p.Gly2161_Pro2164del)
|
rs1597224402
|
|
NM_006445.4(PRPF8):c.6565T>C (p.Ser2189Pro)
|
rs929492529
|
|
NM_006445.4(PRPF8):c.6783G>A (p.Met2261Ile)
|
rs886052611
|
|
NM_006445.4(PRPF8):c.6837G>T (p.Trp2279Cys)
|
rs2151109229
|
|
NM_006445.4(PRPF8):c.6838A>G (p.Asn2280Asp)
|
rs1911029601
|
|
NM_006445.4(PRPF8):c.6854-14C>A
|
rs573493017
|
|
NM_006445.4(PRPF8):c.6902C>T (p.Pro2301Leu)
|
rs2151109012
|
|
NM_006445.4(PRPF8):c.6925C>G (p.His2309Asp)
|
rs2151108985
|
|
NM_006445.4(PRPF8):c.6926A>T (p.His2309Leu)
|
rs121434236
|
|
NM_006445.4(PRPF8):c.809A>G (p.Asn270Ser)
|
rs756656471
|
|
NM_006445.4(PRPF8):c.867-14A>C
|
rs1912894972
|
|
NM_006445.4(PRPF8):c.914G>T (p.Arg305Leu)
|
|
|
NM_006445.4(PRPF8):c.926G>A (p.Arg309His)
|
rs775023296
|
|
NM_006623.4(PHGDH):c.*58G>C
|
rs1652337689
|
|
NM_006623.4(PHGDH):c.*8G>A
|
rs1652335587
|
|
NM_006623.4(PHGDH):c.-11C>T
|
rs886045203
|
|
NM_006623.4(PHGDH):c.1007C>T (p.Ala336Val)
|
rs760161275
|
|
NM_006623.4(PHGDH):c.1031G>A (p.Arg344Gln)
|
|
|
NM_006623.4(PHGDH):c.1034C>T (p.Ala345Val)
|
|
|
NM_006623.4(PHGDH):c.1051A>G (p.Lys351Glu)
|
rs1303930828
|
|
NM_006623.4(PHGDH):c.1069A>G (p.Ile357Val)
|
|
|
NM_006623.4(PHGDH):c.1078+10G>T
|
rs374994783
|
|
NM_006623.4(PHGDH):c.107T>C (p.Leu36Pro)
|
rs904243407
|
|
NM_006623.4(PHGDH):c.109A>G (p.Ser37Gly)
|
|
|
NM_006623.4(PHGDH):c.1100G>C (p.Gly367Ala)
|
rs768838647
|
|
NM_006623.4(PHGDH):c.1112G>A (p.Ser371Asn)
|
|
|
NM_006623.4(PHGDH):c.1117G>A (p.Ala373Thr)
|
rs201553627
|
|
NM_006623.4(PHGDH):c.1117G>T (p.Ala373Ser)
|
|
|
NM_006623.4(PHGDH):c.1120G>C (p.Val374Leu)
|
|
|
NM_006623.4(PHGDH):c.1157C>T (p.Ala386Val)
|
|
|
NM_006623.4(PHGDH):c.1158G>A (p.Ala386=)
|
rs144484007
|
|
NM_006623.4(PHGDH):c.1177G>A (p.Ala393Thr)
|
|
|
NM_006623.4(PHGDH):c.118_119delinsTT (p.Glu40Leu)
|
rs2101136638
|
|
NM_006623.4(PHGDH):c.1197_1198delinsTT (p.Glu399_Ala400delinsAspSer)
|
rs2101221402
|
|
NM_006623.4(PHGDH):c.1209+5G>T
|
|
|
NM_006623.4(PHGDH):c.1209+6C>A
|
rs774142037
|
|
NM_006623.4(PHGDH):c.120G>T (p.Glu40Asp)
|
rs745693493
|
|
NM_006623.4(PHGDH):c.1210-2A>G
|
rs2101224430
|
|
NM_006623.4(PHGDH):c.1213A>T (p.Thr405Ser)
|
|
|
NM_006623.4(PHGDH):c.1235C>T (p.Ala412Val)
|
|
|
NM_006623.4(PHGDH):c.1241G>A (p.Gly414Glu)
|
|
|
NM_006623.4(PHGDH):c.127G>C (p.Ala43Pro)
|
|
|
NM_006623.4(PHGDH):c.1287C>T (p.Gly429=)
|
|
|
NM_006623.4(PHGDH):c.1289C>A (p.Ala430Asp)
|
|
|
NM_006623.4(PHGDH):c.1307G>T (p.Gly436Val)
|
rs1571020741
|
|
NM_006623.4(PHGDH):c.1313T>C (p.Val438Ala)
|
rs1652277316
|
|
NM_006623.4(PHGDH):c.1327C>G (p.Pro443Ala)
|
rs1052377436
|
|
NM_006623.4(PHGDH):c.1338G>C (p.Gln446His)
|
|
|
NM_006623.4(PHGDH):c.1345A>G (p.Asn449Asp)
|
rs2101225206
|
|
NM_006623.4(PHGDH):c.1348G>A (p.Gly450Arg)
|
|
|
NM_006623.4(PHGDH):c.1351_1352insTGC (p.Ala451delinsValPro)
|
|
|
NM_006623.4(PHGDH):c.1352C>G (p.Ala451Gly)
|
|
|
NM_006623.4(PHGDH):c.1358T>G (p.Phe453Cys)
|
rs2101225315
|
|
NM_006623.4(PHGDH):c.1361G>A (p.Arg454Lys)
|
rs2101225331
|
|
NM_006623.4(PHGDH):c.1363C>T (p.Pro455Ser)
|
|
|
NM_006623.4(PHGDH):c.1378C>T (p.Arg460Cys)
|
rs749406489
|
|
NM_006623.4(PHGDH):c.1379G>A (p.Arg460His)
|
rs587696887
|
|
NM_006623.4(PHGDH):c.1379G>C (p.Arg460Pro)
|
rs587696887
|
|
NM_006623.4(PHGDH):c.1379G>T (p.Arg460Leu)
|
rs587696887
|
|
NM_006623.4(PHGDH):c.138+6G>T
|
|
|
NM_006623.4(PHGDH):c.138G>A (p.Gln46=)
|
rs143217390
|
|
NM_006623.4(PHGDH):c.138G>C (p.Gln46His)
|
rs143217390
|
|
NM_006623.4(PHGDH):c.139-3C>T
|
rs750037132
|
|
NM_006623.4(PHGDH):c.13A>G (p.Asn5Asp)
|
rs745781701
|
|
NM_006623.4(PHGDH):c.1405C>T (p.Arg469Trp)
|
|
|
NM_006623.4(PHGDH):c.1413G>T (p.Gln471His)
|
|
|
NM_006623.4(PHGDH):c.1423C>T (p.Pro475Ser)
|
rs757928289
|
|
NM_006623.4(PHGDH):c.1426G>A (p.Ala476Thr)
|
|
|
NM_006623.4(PHGDH):c.142T>C (p.Cys48Arg)
|
rs1296126379
|
|
NM_006623.4(PHGDH):c.1430T>C (p.Met477Thr)
|
|
|
NM_006623.4(PHGDH):c.1438A>G (p.Thr480Ala)
|
|
|
NM_006623.4(PHGDH):c.143G>A (p.Cys48Tyr)
|
|
|
NM_006623.4(PHGDH):c.1441A>G (p.Met481Val)
|
|
|
NM_006623.4(PHGDH):c.1442T>C (p.Met481Thr)
|
|
|
NM_006623.4(PHGDH):c.1457C>A (p.Ala486Glu)
|
|
|
NM_006623.4(PHGDH):c.1472G>A (p.Arg491Gln)
|
rs1452461315
|
|
NM_006623.4(PHGDH):c.1514C>T (p.Thr505Ile)
|
|
|
NM_006623.4(PHGDH):c.1522G>A (p.Val508Ile)
|
|
|
NM_006623.4(PHGDH):c.1526T>C (p.Met509Thr)
|
|
|
NM_006623.4(PHGDH):c.1558G>A (p.Ala520Thr)
|
|
|
NM_006623.4(PHGDH):c.1559C>T (p.Ala520Val)
|
|
|
NM_006623.4(PHGDH):c.1565_1566del (p.Lys522fs)
|
|
|
NM_006623.4(PHGDH):c.1571A>G (p.His524Arg)
|
rs2101229584
|
|
NM_006623.4(PHGDH):c.1572_1575dup (p.Thr526fs)
|
|
|
NM_006623.4(PHGDH):c.1583C>A (p.Ala528Asp)
|
|
|
NM_006623.4(PHGDH):c.1583C>G (p.Ala528Gly)
|
|
|
NM_006623.4(PHGDH):c.175G>T (p.Val59Leu)
|
rs2101154786
|
|
NM_006623.4(PHGDH):c.176T>G (p.Val59Gly)
|
rs1340275757
|
|
NM_006623.4(PHGDH):c.187G>A (p.Val63Ile)
|
rs2101154843
|
|
NM_006623.4(PHGDH):c.196G>A (p.Ala66Thr)
|
|
|
NM_006623.4(PHGDH):c.20G>C (p.Arg7Pro)
|
rs1650717022
|
|
NM_006623.4(PHGDH):c.214G>A (p.Val72Met)
|
rs958052810
|
|
NM_006623.4(PHGDH):c.242A>T (p.Asp81Val)
|
|
|
NM_006623.4(PHGDH):c.245A>G (p.Asn82Ser)
|
rs587625944
|
|
NM_006623.4(PHGDH):c.24A>T (p.Lys8Asn)
|
rs2101136375
|
|
NM_006623.4(PHGDH):c.250G>T (p.Asp84Tyr)
|
|
|
NM_006623.4(PHGDH):c.266C>A (p.Thr89Lys)
|
rs1651150753
|
|
NM_006623.4(PHGDH):c.275G>A (p.Gly92Asp)
|
|
|
NM_006623.4(PHGDH):c.281T>G (p.Leu94Trp)
|
rs1651151523
|
|
NM_006623.4(PHGDH):c.290+3A>C
|
rs2101155326
|
|
NM_006623.4(PHGDH):c.290+6T>C
|
|
|
NM_006623.4(PHGDH):c.299A>G (p.Asn100Ser)
|
|
|
NM_006623.4(PHGDH):c.310C>T (p.Leu104Phe)
|
|
|
NM_006623.4(PHGDH):c.319G>A (p.Ala107Thr)
|
|
|
NM_006623.4(PHGDH):c.322G>C (p.Glu108Gln)
|
|
|
NM_006623.4(PHGDH):c.356+3A>G
|
|
|
NM_006623.4(PHGDH):c.357-15T>C
|
|
|
NM_006623.4(PHGDH):c.357-3C>A
|
|
|
NM_006623.4(PHGDH):c.357G>T (p.Arg119Ser)
|
|
|
NM_006623.4(PHGDH):c.35G>T (p.Ser12Ile)
|
|
|
NM_006623.4(PHGDH):c.364_365delinsTT (p.Pro122Phe)
|
rs2101171167
|
|
NM_006623.4(PHGDH):c.371C>T (p.Ala124Val)
|
|
|
NM_006623.4(PHGDH):c.377C>G (p.Ala126Gly)
|
|
|
NM_006623.4(PHGDH):c.380C>T (p.Ser127Leu)
|
|
|
NM_006623.4(PHGDH):c.381G>A (p.Ser127=)
|
rs886045205
|
|
NM_006623.4(PHGDH):c.391G>A (p.Gly131Ser)
|
|
|
NM_006623.4(PHGDH):c.395A>G (p.Lys132Arg)
|
|
|
NM_006623.4(PHGDH):c.399G>C (p.Trp133Cys)
|
rs1651447610
|
|
NM_006623.4(PHGDH):c.403C>G (p.Arg135Gly)
|
|
|
NM_006623.4(PHGDH):c.403C>T (p.Arg135Trp)
|
rs267606949
|
|
NM_006623.4(PHGDH):c.40A>G (p.Ser14Gly)
|
rs1448633854
|
|
NM_006623.4(PHGDH):c.411+3G>A
|
|
|
NM_006623.4(PHGDH):c.411+5G>T
|
rs775568707
|
|
NM_006623.4(PHGDH):c.418G>A (p.Gly140Arg)
|
rs587777770
|
|
NM_006623.4(PHGDH):c.427C>A (p.Leu143Met)
|
rs143155925
|
|
NM_006623.4(PHGDH):c.458T>C (p.Leu153Pro)
|
rs1311224546
|
|
NM_006623.4(PHGDH):c.460G>A (p.Gly154Ser)
|
rs1056647813
|
|
NM_006623.4(PHGDH):c.472A>G (p.Arg158Gly)
|
|
|
NM_006623.4(PHGDH):c.476A>G (p.Glu159Gly)
|
rs756996899
|
|
NM_006623.4(PHGDH):c.488G>A (p.Arg163Gln)
|
rs587777483
|
|
NM_006623.4(PHGDH):c.500T>C (p.Phe167Ser)
|
|
|
NM_006623.4(PHGDH):c.505A>T (p.Met169Leu)
|
rs776977023
|
|
NM_006623.4(PHGDH):c.507G>A (p.Met169Ile)
|
rs1651465371
|
|
NM_006623.4(PHGDH):c.511-13T>G
|
rs1571009081
|
|
NM_006623.4(PHGDH):c.511-5A>G
|
|
|
NM_006623.4(PHGDH):c.518G>A (p.Gly173Glu)
|
rs2101195384
|
|
NM_006623.4(PHGDH):c.519G>A (p.Gly173=)
|
rs754326499
|
|
NM_006623.4(PHGDH):c.543G>A (p.Glu181=)
|
rs886045206
|
|
NM_006623.4(PHGDH):c.574C>T (p.Pro192Ser)
|
|
|
NM_006623.4(PHGDH):c.619A>T (p.Thr207Ser)
|
|
|
NM_006623.4(PHGDH):c.62A>C (p.Lys21Thr)
|
rs891735095
|
|
NM_006623.4(PHGDH):c.638C>T (p.Thr213Met)
|
|
|
NM_006623.4(PHGDH):c.658A>C (p.Asn220His)
|
rs2101198018
|
|
NM_006623.4(PHGDH):c.659A>T (p.Asn220Ile)
|
|
|
NM_006623.4(PHGDH):c.674G>A (p.Cys225Tyr)
|
rs2101198107
|
|
NM_006623.4(PHGDH):c.682G>C (p.Gly228Arg)
|
rs139063843
|
|
NM_006623.4(PHGDH):c.683G>A (p.Gly228Glu)
|
|
|
NM_006623.4(PHGDH):c.688C>A (p.Arg230Ser)
|
rs1366611140
|
|
NM_006623.4(PHGDH):c.68T>G (p.Leu23Trp)
|
rs587615037
|
|
NM_006623.4(PHGDH):c.694G>A (p.Val232Met)
|
rs1359915168
|
|
NM_006623.4(PHGDH):c.695T>A (p.Val232Glu)
|
|
|
NM_006623.4(PHGDH):c.69G>C (p.Leu23Phe)
|
rs2101136517
|
|
NM_006623.4(PHGDH):c.713G>T (p.Gly238Val)
|
rs2101198427
|
|
NM_006623.4(PHGDH):c.721G>A (p.Asp241Asn)
|
|
|
NM_006623.4(PHGDH):c.730G>A (p.Ala244Thr)
|
|
|
NM_006623.4(PHGDH):c.740G>A (p.Arg247Gln)
|
|
|
NM_006623.4(PHGDH):c.742G>A (p.Ala248Thr)
|
|
|
NM_006623.4(PHGDH):c.743C>A (p.Ala248Asp)
|
rs201782441
|
|
NM_006623.4(PHGDH):c.764C>T (p.Ala255Val)
|
rs1571010631
|
|
NM_006623.4(PHGDH):c.766G>A (p.Gly256Arg)
|
|
|
NM_006623.4(PHGDH):c.77G>A (p.Gly26Glu)
|
rs1650720374
|
|
NM_006623.4(PHGDH):c.781G>A (p.Val261Met)
|
rs267606947
|
|
NM_006623.4(PHGDH):c.792+6T>C
|
rs146953046
|
|
NM_006623.4(PHGDH):c.79G>C (p.Gly27Arg)
|
rs755568069
|
|
NM_006623.4(PHGDH):c.803G>A (p.Arg268Gln)
|
|
|
NM_006623.4(PHGDH):c.808C>T (p.Arg270Trp)
|
rs765756881
|
|
NM_006623.4(PHGDH):c.824A>G (p.His275Arg)
|
|
|
NM_006623.4(PHGDH):c.851T>C (p.Leu284Pro)
|
|
|
NM_006623.4(PHGDH):c.854G>A (p.Gly285Asp)
|
|
|
NM_006623.4(PHGDH):c.868G>A (p.Glu290Lys)
|
rs2101204959
|
|
NM_006623.4(PHGDH):c.86A>G (p.Gln29Arg)
|
rs1650720815
|
|
NM_006623.4(PHGDH):c.87G>T (p.Gln29His)
|
|
|
NM_006623.4(PHGDH):c.881G>T (p.Arg294Leu)
|
|
|
NM_006623.4(PHGDH):c.894A>C (p.Glu298Asp)
|
|
|
NM_006623.4(PHGDH):c.907T>C (p.Phe303Leu)
|
|
|
NM_006623.4(PHGDH):c.938C>T (p.Thr313Met)
|
|
|
NM_006623.4(PHGDH):c.940G>A (p.Gly314Arg)
|
|
|
NM_006623.4(PHGDH):c.946G>C (p.Val316Leu)
|
rs146398308
|
|
NM_006623.4(PHGDH):c.953C>T (p.Ala318Val)
|
rs1030988421
|
|
NM_006623.4(PHGDH):c.971C>T (p.Ala324Val)
|
|
|
NM_006623.4(PHGDH):c.991C>A (p.Pro331Thr)
|
|
|
NM_006623.4(PHGDH):c.991C>T (p.Pro331Ser)
|
rs370562656
|
|
NM_006721.4(ADK):c.*157G>A
|
rs886047237
|
|
NM_006721.4(ADK):c.374T>C (p.Val125Ala)
|
|
|
NM_006721.4(ADK):c.441C>T (p.Asp147=)
|
rs886047236
|
|
NM_006721.4(ADK):c.494A>C (p.Lys165Thr)
|
rs1219524919
|
|
NM_006721.4(ADK):c.66-23967G>T
|
rs1842356778
|
|
NM_006721.4(ADK):c.66-24083G>C
|
rs886047233
|
|
NM_006721.4(ADK):c.66-24133G>A
|
rs1036870011
|
|
NM_006721.4(ADK):c.66-24151A>T
|
rs886047232
|
|
NM_006721.4(ADK):c.741T>A (p.Phe247Leu)
|
rs786205458
|
|
NM_006859.4(LIAS):c.1037G>A (p.Gly346Asp)
|
rs1745057681
|
|
NM_006859.4(LIAS):c.1057T>C (p.Tyr353His)
|
rs1745058560
|
|
NM_006859.4(LIAS):c.1096A>C (p.Lys366Gln)
|
|
|
NM_006859.4(LIAS):c.1106_1110del (p.Thr369fs)
|
rs1560674852
|
|
NM_006859.4(LIAS):c.1112A>T (p.Asp371Val)
|
|
|
NM_006859.4(LIAS):c.1113C>A (p.Asp371Glu)
|
rs1745219682
|
|
NM_006859.4(LIAS):c.1114C>T (p.Leu372Phe)
|
rs2109893939
|
|
NM_006859.4(LIAS):c.11G>T (p.Arg4Leu)
|
rs1401099440
|
|
NM_006859.4(LIAS):c.120G>T (p.Gln40His)
|
rs1041843537
|
|
NM_006859.4(LIAS):c.152G>A (p.Gly51Asp)
|
rs1191295540
|
|
NM_006859.4(LIAS):c.158T>A (p.Leu53His)
|
rs2109868054
|
|
NM_006859.4(LIAS):c.15C>G (p.Cys5Trp)
|
rs1473782911
|
|
NM_006859.4(LIAS):c.163G>A (p.Asp55Asn)
|
rs1744463777
|
|
NM_006859.4(LIAS):c.170G>C (p.Ser57Thr)
|
|
|
NM_006859.4(LIAS):c.173C>A (p.Thr58Asn)
|
rs141723499
|
|
NM_006859.4(LIAS):c.17G>A (p.Gly6Glu)
|
rs1744293519
|
|
NM_006859.4(LIAS):c.191G>A (p.Gly64Glu)
|
|
|
NM_006859.4(LIAS):c.1A>C (p.Met1Leu)
|
rs776691180
|
|
NM_006859.4(LIAS):c.218+4A>G
|
rs1744469769
|
|
NM_006859.4(LIAS):c.222A>C (p.Leu74Phe)
|
|
|
NM_006859.4(LIAS):c.242A>G (p.Lys81Arg)
|
rs1744535027
|
|
NM_006859.4(LIAS):c.244A>G (p.Thr82Ala)
|
rs1560666276
|
|
NM_006859.4(LIAS):c.26C>T (p.Ala9Val)
|
|
|
NM_006859.4(LIAS):c.275A>C (p.Lys92Thr)
|
|
|
NM_006859.4(LIAS):c.287C>G (p.Thr96Ser)
|
|
|
NM_006859.4(LIAS):c.28C>T (p.Arg10Cys)
|
|
|
NM_006859.4(LIAS):c.292C>T (p.Arg98Trp)
|
rs796052702
|
|
NM_006859.4(LIAS):c.298T>A (p.Leu100Ile)
|
rs1744543385
|
|
NM_006859.4(LIAS):c.301A>G (p.Asn101Asp)
|
rs886043545
|
|
NM_006859.4(LIAS):c.312A>G (p.Thr104=)
|
rs749254524
|
|
NM_006859.4(LIAS):c.313G>A (p.Val105Ile)
|
rs775744955
|
|
NM_006859.4(LIAS):c.329G>T (p.Arg110Leu)
|
rs773238728
|
|
NM_006859.4(LIAS):c.32C>G (p.Thr11Ser)
|
|
|
NM_006859.4(LIAS):c.341T>C (p.Ile114Thr)
|
|
|
NM_006859.4(LIAS):c.359G>A (p.Gly120Asp)
|
rs1183607358
|
|
NM_006859.4(LIAS):c.359_364del (p.Gly120_Gly121del)
|
|
|
NM_006859.4(LIAS):c.35T>A (p.Leu12Gln)
|
rs1436660040
|
|
NM_006859.4(LIAS):c.391A>G (p.Met131Val)
|
rs1744633174
|
|
NM_006859.4(LIAS):c.393+6G>T
|
rs2109873076
|
|
NM_006859.4(LIAS):c.393+7C>G
|
rs372423537
|
|
NM_006859.4(LIAS):c.393G>A (p.Met131Ile)
|
rs2109873042
|
|
NM_006859.4(LIAS):c.394-6T>C
|
rs1744704251
|
|
NM_006859.4(LIAS):c.399G>A (p.Met133Ile)
|
rs774320280
|
|
NM_006859.4(LIAS):c.410G>A (p.Cys137Tyr)
|
|
|
NM_006859.4(LIAS):c.419G>A (p.Gly140Asp)
|
rs1578236671
|
|
NM_006859.4(LIAS):c.433T>A (p.Ser145Thr)
|
rs1196830198
|
|
NM_006859.4(LIAS):c.44G>C (p.Arg15Pro)
|
rs184218786
|
|
NM_006859.4(LIAS):c.465_466delinsTT (p.Asp156Tyr)
|
rs2109875370
|
|
NM_006859.4(LIAS):c.475G>A (p.Glu159Lys)
|
rs1744708135
|
|
NM_006859.4(LIAS):c.485A>G (p.Asn162Ser)
|
rs1744708957
|
|
NM_006859.4(LIAS):c.499A>G (p.Ile167Val)
|
|
|
NM_006859.4(LIAS):c.4T>C (p.Ser2Pro)
|
|
|
NM_006859.4(LIAS):c.50T>C (p.Phe17Ser)
|
rs751814381
|
|
NM_006859.4(LIAS):c.511G>A (p.Gly171Ser)
|
|
|
NM_006859.4(LIAS):c.512G>A (p.Gly171Asp)
|
rs2109875475
|
|
NM_006859.4(LIAS):c.515T>C (p.Leu172Pro)
|
rs2109875481
|
|
NM_006859.4(LIAS):c.548A>G (p.Asp183Gly)
|
rs906832972
|
|
NM_006859.4(LIAS):c.550+4A>G
|
rs1560668262
|
|
NM_006859.4(LIAS):c.552T>G (p.Asp184Glu)
|
rs1744715001
|
|
NM_006859.4(LIAS):c.566_567delinsTT (p.Gly189Val)
|
|
|
NM_006859.4(LIAS):c.56G>C (p.Arg19Thr)
|
rs1744443342
|
|
NM_006859.4(LIAS):c.58T>C (p.Tyr20His)
|
|
|
NM_006859.4(LIAS):c.592T>A (p.Ser198Thr)
|
rs1553934367
|
|
NM_006859.4(LIAS):c.595T>C (p.Tyr199His)
|
rs1744716622
|
|
NM_006859.4(LIAS):c.596A>G (p.Tyr199Cys)
|
|
|
NM_006859.4(LIAS):c.5C>G (p.Ser2Cys)
|
rs372288500
|
|
NM_006859.4(LIAS):c.5C>T (p.Ser2Phe)
|
|
|
NM_006859.4(LIAS):c.604G>A (p.Glu202Lys)
|
|
|
NM_006859.4(LIAS):c.619A>G (p.Ile207Val)
|
rs765961914
|
|
NM_006859.4(LIAS):c.632G>T (p.Cys211Phe)
|
|
|
NM_006859.4(LIAS):c.638C>T (p.Thr213Ile)
|
rs1268712461
|
|
NM_006859.4(LIAS):c.643G>A (p.Asp215Asn)
|
rs1560669433
|
|
NM_006859.4(LIAS):c.657T>A (p.Asp219Glu)
|
rs1021766315
|
|
NM_006859.4(LIAS):c.659T>C (p.Leu220Pro)
|
|
|
NM_006859.4(LIAS):c.673A>G (p.Lys225Glu)
|
|
|
NM_006859.4(LIAS):c.683T>C (p.Leu228Pro)
|
rs1553934545
|
|
NM_006859.4(LIAS):c.694G>C (p.Asp232His)
|
|
|
NM_006859.4(LIAS):c.701A>T (p.Tyr234Phe)
|
rs1475625272
|
|
NM_006859.4(LIAS):c.703G>C (p.Ala235Pro)
|
rs758964059
|
|
NM_006859.4(LIAS):c.708T>G (p.His236Gln)
|
rs1057524792
|
|
NM_006859.4(LIAS):c.709A>G (p.Asn237Asp)
|
rs778212967
|
|
NM_006859.4(LIAS):c.70C>G (p.Pro24Ala)
|
rs768692068
|
|
NM_006859.4(LIAS):c.725C>G (p.Pro242Arg)
|
|
|
NM_006859.4(LIAS):c.725C>T (p.Pro242Leu)
|
rs746107734
|
|
NM_006859.4(LIAS):c.73G>C (p.Val25Leu)
|
rs1744445711
|
|
NM_006859.4(LIAS):c.748G>A (p.Asp250Asn)
|
|
|
NM_006859.4(LIAS):c.76A>G (p.Arg26Gly)
|
rs773069554
|
|
NM_006859.4(LIAS):c.770A>G (p.Gln257Arg)
|
|
|
NM_006859.4(LIAS):c.790C>T (p.His264Tyr)
|
|
|
NM_006859.4(LIAS):c.797A>G (p.Lys266Arg)
|
rs1560671038
|
|
NM_006859.4(LIAS):c.802G>A (p.Val268Ile)
|
rs371831096
|
|
NM_006859.4(LIAS):c.807G>T (p.Gln269His)
|
rs140846573
|
|
NM_006859.4(LIAS):c.817A>G (p.Ile273Val)
|
rs1744927078
|
|
NM_006859.4(LIAS):c.827C>T (p.Thr276Ile)
|
|
|
NM_006859.4(LIAS):c.832A>C (p.Ile278Leu)
|
rs528498907
|
|
NM_006859.4(LIAS):c.833T>C (p.Ile278Thr)
|
rs1744928054
|
|
NM_006859.4(LIAS):c.869A>T (p.Tyr290Phe)
|
rs1744929854
|
|
NM_006859.4(LIAS):c.880A>G (p.Lys294Glu)
|
rs1744930458
|
|
NM_006859.4(LIAS):c.883+6G>T
|
rs934916861
|
|
NM_006859.4(LIAS):c.884-3C>A
|
rs1207306697
|
|
NM_006859.4(LIAS):c.889C>T (p.Arg297Cys)
|
rs1744968434
|
|
NM_006859.4(LIAS):c.894G>C (p.Glu298Asp)
|
rs1744968826
|
|
NM_006859.4(LIAS):c.917T>C (p.Leu306Ser)
|
rs1744970129
|
|
NM_006859.4(LIAS):c.925T>C (p.Tyr309His)
|
|
|
NM_006859.4(LIAS):c.941G>C (p.Arg314Thr)
|
rs2109884619
|
|
NM_006859.4(LIAS):c.943C>T (p.Arg315Cys)
|
rs1397998638
|
|
NM_006859.4(LIAS):c.947A>G (p.His316Arg)
|
rs1578243031
|
|
NM_006859.4(LIAS):c.954+3A>G
|
rs2109884668
|
|
NM_006859.4(LIAS):c.955-3T>G
|
|
|
NM_006899.5(IDH3B):c.1014T>C (p.Leu338=)
|
rs886056569
|
|
NM_006899.5(IDH3B):c.1061A>G (p.Lys354Arg)
|
rs886056568
|
|
NM_006899.5(IDH3B):c.1115TCA[1] (p.Ile373del)
|
rs781157150
|
|
NM_006899.5(IDH3B):c.16G>A (p.Gly6Arg)
|
rs760454593
|
|
NM_006899.5(IDH3B):c.34C>T (p.Arg12Ter)
|
rs745313320
|
|
NM_006899.5(IDH3B):c.522G>T (p.Leu174=)
|
rs778097475
|
|
NM_006899.5(IDH3B):c.706G>C (p.Val236Leu)
|
rs2086919311
|
|
NM_006899.5(IDH3B):c.768+1G>T
|
rs1568548317
|
|
NM_006899.5(IDH3B):c.916-8C>T
|
rs1412842843
|
|
NM_006899.5(IDH3B):c.916G>T (p.Gly306Cys)
|
rs886056571
|
|
NM_006899.5(IDH3B):c.917G>A (p.Gly306Asp)
|
rs886056570
|
|
NM_006907.4(PYCR1):c.-378G>C
|
|
|
NM_006907.4(PYCR1):c.346A>G (p.Arg116Gly)
|
rs2041142934
|
|
NM_006907.4(PYCR1):c.559G>A (p.Ala187Thr)
|
rs763349891
|
|
NM_006915.3(RP2):c.*1098G>A
|
rs181617714
|
|
NM_006915.3(RP2):c.*1447T>C
|
rs1057515894
|
|
NM_006915.3(RP2):c.*1743T>C
|
rs954710371
|
|
NM_006915.3(RP2):c.*243_*246del
|
rs782684761
|
|
NM_006915.3(RP2):c.*33C>G
|
rs201374021
|
|
NM_006915.3(RP2):c.*741C>T
|
rs1925452093
|
|
NM_006915.3(RP2):c.314G>A (p.Cys105Tyr)
|
rs1569531630
|
|
NM_006915.3(RP2):c.768G>C (p.Glu256Asp)
|
rs1227276668
|
|
NM_006915.3(RP2):c.884-14G>A
|
rs1602354996
|
|
NM_012213.3(MLYCD):c.*218C>A
|
rs556228149
|
|
NM_012213.3(MLYCD):c.*220A>G
|
rs576158206
|
|
NM_012213.3(MLYCD):c.*281G>A
|
rs886052361
|
|
NM_012213.3(MLYCD):c.*382G>A
|
rs545195059
|
|
NM_012213.3(MLYCD):c.*430C>T
|
rs530020302
|
|
NM_012213.3(MLYCD):c.*437G>C
|
rs1325108986
|
|
NM_012213.3(MLYCD):c.*671C>A
|
rs74830340
|
|
NM_012213.3(MLYCD):c.1012C>G (p.Leu338Val)
|
rs1211916115
|
|
NM_012213.3(MLYCD):c.1031C>T (p.Ser344Leu)
|
rs1294536971
|
|
NM_012213.3(MLYCD):c.1039_1041del (p.Lys347del)
|
|
|
NM_012213.3(MLYCD):c.1047T>G (p.His349Gln)
|
|
|
NM_012213.3(MLYCD):c.104C>T (p.Ala35Val)
|
|
|
NM_012213.3(MLYCD):c.1073C>G (p.Ser358Trp)
|
rs200573073
|
|
NM_012213.3(MLYCD):c.1073C>T (p.Ser358Leu)
|
|
|
NM_012213.3(MLYCD):c.1077A>C (p.Glu359Asp)
|
rs2151060004
|
|
NM_012213.3(MLYCD):c.1106G>T (p.Gly369Val)
|
rs2151060022
|
|
NM_012213.3(MLYCD):c.1109C>A (p.Pro370His)
|
rs759839871
|
|
NM_012213.3(MLYCD):c.1129CTC[2] (p.Leu379del)
|
|
|
NM_012213.3(MLYCD):c.1139G>T (p.Ser380Ile)
|
|
|
NM_012213.3(MLYCD):c.1147G>C (p.Glu383Gln)
|
|
|
NM_012213.3(MLYCD):c.1158G>T (p.Gln386His)
|
rs1907329665
|
|
NM_012213.3(MLYCD):c.1160C>T (p.Ser387Leu)
|
rs376324546
|
|
NM_012213.3(MLYCD):c.1175G>A (p.Arg392Gln)
|
rs201576638
|
|
NM_012213.3(MLYCD):c.1178C>G (p.Ala393Gly)
|
rs200750439
|
|
NM_012213.3(MLYCD):c.1207G>T (p.Ala403Ser)
|
|
|
NM_012213.3(MLYCD):c.1237G>C (p.Gly413Arg)
|
rs374608119
|
|
NM_012213.3(MLYCD):c.123C>A (p.Asp41Glu)
|
|
|
NM_012213.3(MLYCD):c.1243G>A (p.Ala415Thr)
|
rs372255821
|
|
NM_012213.3(MLYCD):c.1277A>G (p.Asn426Ser)
|
rs777032506
|
|
NM_012213.3(MLYCD):c.1289T>C (p.Leu430Pro)
|
|
|
NM_012213.3(MLYCD):c.1334C>G (p.Thr445Ser)
|
|
|
NM_012213.3(MLYCD):c.134G>T (p.Arg45Leu)
|
|
|
NM_012213.3(MLYCD):c.1351A>G (p.Met451Val)
|
rs1567637203
|
|
NM_012213.3(MLYCD):c.1363C>T (p.Arg455Cys)
|
|
|
NM_012213.3(MLYCD):c.1364G>T (p.Arg455Leu)
|
|
|
NM_012213.3(MLYCD):c.1380G>C (p.Glu460Asp)
|
rs2151060214
|
|
NM_012213.3(MLYCD):c.1382C>G (p.Thr461Arg)
|
|
|
NM_012213.3(MLYCD):c.1396A>G (p.Thr466Ala)
|
|
|
NM_012213.3(MLYCD):c.1400C>G (p.Ser467Cys)
|
|
|
NM_012213.3(MLYCD):c.1424A>G (p.Lys475Arg)
|
rs200413924
|
|
NM_012213.3(MLYCD):c.1427C>T (p.Ala476Val)
|
rs1239750288
|
|
NM_012213.3(MLYCD):c.1448T>C (p.Leu483Pro)
|
|
|
NM_012213.3(MLYCD):c.1481dup (p.Ter494TrpextTer?)
|
|
|
NM_012213.3(MLYCD):c.14G>C (p.Gly5Ala)
|
|
|
NM_012213.3(MLYCD):c.160T>A (p.Tyr54Asn)
|
|
|
NM_012213.3(MLYCD):c.164A>T (p.Glu55Val)
|
rs1906688843
|
|
NM_012213.3(MLYCD):c.178A>G (p.Thr60Ala)
|
rs886052356
|
|
NM_012213.3(MLYCD):c.190G>A (p.Ala64Thr)
|
rs2151053170
|
|
NM_012213.3(MLYCD):c.193G>A (p.Glu65Lys)
|
|
|
NM_012213.3(MLYCD):c.197G>A (p.Gly66Asp)
|
|
|
NM_012213.3(MLYCD):c.213C>G (p.Phe71Leu)
|
rs780815688
|
|
NM_012213.3(MLYCD):c.219C>G (p.Ser73Arg)
|
rs1906691947
|
|
NM_012213.3(MLYCD):c.226G>A (p.Gly76Ser)
|
rs1238223514
|
|
NM_012213.3(MLYCD):c.226G>T (p.Gly76Cys)
|
rs1238223514
|
|
NM_012213.3(MLYCD):c.253G>A (p.Ala85Thr)
|
|
|
NM_012213.3(MLYCD):c.292G>A (p.Asp98Asn)
|
rs1906695424
|
|
NM_012213.3(MLYCD):c.315G>C (p.Gln105His)
|
|
|
NM_012213.3(MLYCD):c.322G>A (p.Gly108Ser)
|
rs1906696637
|
|
NM_012213.3(MLYCD):c.323G>T (p.Gly108Val)
|
|
|
NM_012213.3(MLYCD):c.32G>A (p.Arg11Lys)
|
rs774717448
|
|
NM_012213.3(MLYCD):c.383G>T (p.Arg128Leu)
|
|
|
NM_012213.3(MLYCD):c.394G>T (p.Ala132Ser)
|
rs775855312
|
|
NM_012213.3(MLYCD):c.404C>T (p.Pro135Leu)
|
rs767436209
|
|
NM_012213.3(MLYCD):c.416_417delinsTT (p.Gly139Val)
|
rs2151053320
|
|
NM_012213.3(MLYCD):c.41T>G (p.Leu14Arg)
|
rs956352614
|
|
NM_012213.3(MLYCD):c.445G>A (p.Gly149Ser)
|
rs767254883
|
|
NM_012213.3(MLYCD):c.467A>G (p.Gln156Arg)
|
|
|
NM_012213.3(MLYCD):c.468G>C (p.Gln156His)
|
rs886052357
|
|
NM_012213.3(MLYCD):c.470T>C (p.Leu157Pro)
|
|
|
NM_012213.3(MLYCD):c.473G>C (p.Arg158Pro)
|
|
|
NM_012213.3(MLYCD):c.475del (p.Ala159fs)
|
rs796051991
|
|
NM_012213.3(MLYCD):c.476C>T (p.Ala159Val)
|
rs1440583341
|
|
NM_012213.3(MLYCD):c.491C>G (p.Ala164Gly)
|
rs1044258796
|
|
NM_012213.3(MLYCD):c.495G>A (p.Gln165=)
|
rs1183339497
|
|
NM_012213.3(MLYCD):c.58C>T (p.Pro20Ser)
|
rs1292718330
|
|
NM_012213.3(MLYCD):c.620A>T (p.Glu207Val)
|
rs2151056698
|
|
NM_012213.3(MLYCD):c.622G>A (p.Val208Met)
|
rs1419499874
|
|
NM_012213.3(MLYCD):c.638G>T (p.Ser213Ile)
|
|
|
NM_012213.3(MLYCD):c.649G>A (p.Ala217Thr)
|
|
|
NM_012213.3(MLYCD):c.658C>T (p.Pro220Ser)
|
rs1295250260
|
|
NM_012213.3(MLYCD):c.675G>A (p.Met225Ile)
|
|
|
NM_012213.3(MLYCD):c.722C>G (p.Ser241Cys)
|
|
|
NM_012213.3(MLYCD):c.726C>G (p.His242Gln)
|
|
|
NM_012213.3(MLYCD):c.734C>G (p.Thr245Ser)
|
rs886052358
|
|
NM_012213.3(MLYCD):c.73C>A (p.Pro25Thr)
|
|
|
NM_012213.3(MLYCD):c.744G>C (p.Glu248Asp)
|
rs202012613
|
|
NM_012213.3(MLYCD):c.744G>T (p.Glu248Asp)
|
|
|
NM_012213.3(MLYCD):c.748C>G (p.Leu250Val)
|
rs762362836
|
|
NM_012213.3(MLYCD):c.754G>A (p.Val252Ile)
|
rs1555538351
|
|
NM_012213.3(MLYCD):c.76C>T (p.Arg26Trp)
|
|
|
NM_012213.3(MLYCD):c.793A>G (p.Ile265Val)
|
|
|
NM_012213.3(MLYCD):c.798+17A>G
|
|
|
NM_012213.3(MLYCD):c.7G>A (p.Gly3Ser)
|
|
|
NM_012213.3(MLYCD):c.802A>T (p.Ile268Phe)
|
|
|
NM_012213.3(MLYCD):c.805G>A (p.Val269Met)
|
|
|
NM_012213.3(MLYCD):c.814C>T (p.His272Tyr)
|
rs112428248
|
|
NM_012213.3(MLYCD):c.826G>C (p.Glu276Gln)
|
|
|
NM_012213.3(MLYCD):c.830C>T (p.Thr277Ile)
|
|
|
NM_012213.3(MLYCD):c.837GAA[1] (p.Lys280del)
|
|
|
NM_012213.3(MLYCD):c.843C>G (p.Asn281Lys)
|
|
|
NM_012213.3(MLYCD):c.859A>G (p.Ile287Val)
|
|
|
NM_012213.3(MLYCD):c.85A>C (p.Ser29Arg)
|
|
|
NM_012213.3(MLYCD):c.862T>C (p.Phe288Leu)
|
|
|
NM_012213.3(MLYCD):c.869C>T (p.Ser290Phe)
|
|
|
NM_012213.3(MLYCD):c.875G>A (p.Ser292Asn)
|
rs139159660
|
|
NM_012213.3(MLYCD):c.8G>T (p.Gly3Val)
|
rs121908081
|
|
NM_012213.3(MLYCD):c.904G>A (p.Glu302Lys)
|
|
|
NM_012213.3(MLYCD):c.929G>A (p.Arg310Gln)
|
rs146465073
|
|
NM_012213.3(MLYCD):c.929G>C (p.Arg310Pro)
|
rs146465073
|
|
NM_012213.3(MLYCD):c.934G>A (p.Val312Ile)
|
|
|
NM_012213.3(MLYCD):c.942G>T (p.Glu314Asp)
|
|
|
NM_012213.3(MLYCD):c.984G>T (p.Leu328=)
|
rs765416276
|
|
NM_012213.3(MLYCD):c.998G>T (p.Gly333Val)
|
rs886052359
|
|
NM_012213.3(MLYCD):c.[*130G>T;*220A>G*286G>T*504C>A*82C>G]
|
|
|
NM_012418.4(FSCN2):c.1105G>A (p.Gly369Ser)
|
rs376938035
|
|
NM_012418.4(FSCN2):c.1106-25G>A
|
|
|
NM_012418.4(FSCN2):c.1226A>G (p.Tyr409Cys)
|
rs1598582453
|
|
NM_012418.4(FSCN2):c.829G>A (p.Val277Ile)
|
rs181420326
|
|
NM_012463.4(ATP6V0A2):c.*1620T>A
|
rs189881056
|
|
NM_012463.4(ATP6V0A2):c.*1950G>A
|
rs1956794312
|
|
NM_012463.4(ATP6V0A2):c.*2161C>G
|
rs886049071
|
|
NM_012463.4(ATP6V0A2):c.*2771A>G
|
rs1026356999
|
|
NM_012463.4(ATP6V0A2):c.*2782C>A
|
rs183280767
|
|
NM_012463.4(ATP6V0A2):c.*3368T>G
|
rs1956822109
|
|
NM_012463.4(ATP6V0A2):c.*564T>C
|
rs886049066
|
|
NM_012463.4(ATP6V0A2):c.*63C>T
|
rs576086591
|
|
NM_012463.4(ATP6V0A2):c.-170C>A
|
rs540324717
|
|
NM_012463.4(ATP6V0A2):c.1430A>G (p.Asn477Ser)
|
rs532258057
|
|
NM_012463.4(ATP6V0A2):c.1666G>A (p.Val556Met)
|
rs139454557
|
|
NM_012463.4(ATP6V0A2):c.1820A>G (p.Tyr607Cys)
|
rs886049061
|
|
NM_012463.4(ATP6V0A2):c.2176-10TC[2]
|
rs1593920665
|
|
NM_012463.4(ATP6V0A2):c.2223G>C (p.Glu741Asp)
|
rs780465961
|
|
NM_012463.4(ATP6V0A2):c.2273C>T (p.Ala758Val)
|
rs886049062
|
|
NM_012463.4(ATP6V0A2):c.2412C>T (p.Ile804=)
|
rs1414004996
|
|
NM_012463.4(ATP6V0A2):c.2441T>A (p.Phe814Tyr)
|
rs2135923855
|
|
NM_012463.4(ATP6V0A2):c.264G>A (p.Ala88=)
|
rs139785866
|
|
NM_012463.4(ATP6V0A2):c.264G>T (p.Ala88=)
|
rs139785866
|
|
NM_012463.4(ATP6V0A2):c.422G>A (p.Arg141His)
|
rs143509747
|
|
NM_012463.4(ATP6V0A2):c.422G>T (p.Arg141Leu)
|
rs143509747
|
|
NM_012463.4(ATP6V0A2):c.786C>G (p.Ile262Met)
|
rs1956545181
|
|
NM_012463.4(ATP6V0A2):c.826-5C>T
|
rs1593903077
|
|
NM_012463.4(ATP6V0A2):c.883G>A (p.Val295Ile)
|
rs371533517
|
|
NM_012463.4(ATP6V0A2):c.89G>A (p.Gly30Asp)
|
rs1956303931
|
|
NM_012469.4(PRPF6):c.*1T>C
|
rs1167495795
|
|
NM_012469.4(PRPF6):c.-107A>G
|
rs2059063858
|
|
NM_012469.4(PRPF6):c.-89C>T
|
rs886056957
|
|
NM_012469.4(PRPF6):c.1100G>A (p.Arg367His)
|
rs886056959
|
|
NM_012469.4(PRPF6):c.1186+13C>G
|
rs376567998
|
|
NM_012469.4(PRPF6):c.1246C>A (p.Pro416Thr)
|
rs952267888
|
|
NM_012469.4(PRPF6):c.1451A>C (p.Glu484Ala)
|
rs2059216772
|
|
NM_012469.4(PRPF6):c.1492G>A (p.Gly498Ser)
|
rs886056961
|
|
NM_012469.4(PRPF6):c.1769+8G>A
|
rs1021327099
|
|
NM_012469.4(PRPF6):c.2593C>T (p.His865Tyr)
|
rs1037019727
|
|
NM_012469.4(PRPF6):c.2673+12C>G
|
rs374801637
|
|
NM_012469.4(PRPF6):c.279C>T (p.Pro93=)
|
rs2059086886
|
|
NM_012469.4(PRPF6):c.351A>G (p.Lys117=)
|
rs2059087198
|
|
NM_012469.4(PRPF6):c.576G>C (p.Gln192His)
|
rs2059135246
|
|
NM_012469.4(PRPF6):c.57G>A (p.Pro19=)
|
rs779283679
|
|
NM_013247.5(HTRA2):c.146G>C (p.Arg49Pro)
|
rs1675478353
|
|
NM_013247.5(HTRA2):c.739C>T (p.Arg247Cys)
|
rs763567914
|
|
NM_013247.5(HTRA2):c.755G>A (p.Arg252Gln)
|
|
|
NM_014003.4(DHX38):c.605A>G (p.His202Arg)
|
rs2144134233
|
|
NM_014003.4(DHX38):c.716A>G (p.Tyr239Cys)
|
rs181471020
|
|
NM_014003.4(DHX38):c.995G>A (p.Gly332Asp)
|
rs587777554
|
|
NM_014014.5(SNRNP200):c.1498C>T (p.Leu500=)
|
rs886056464
|
|
NM_014014.5(SNRNP200):c.1507G>A (p.Ala503Thr)
|
rs2104357129
|
|
NM_014014.5(SNRNP200):c.1515+11C>A
|
rs780821025
|
|
NM_014014.5(SNRNP200):c.1616T>A (p.Ile539Asn)
|
rs2104356680
|
|
NM_014014.5(SNRNP200):c.162C>T (p.Asp54=)
|
rs2063976140
|
|
NM_014014.5(SNRNP200):c.1786A>G (p.Ile596Val)
|
rs1471564053
|
|
NM_014014.5(SNRNP200):c.1951C>T (p.Leu651Phe)
|
rs2104352435
|
|
NM_014014.5(SNRNP200):c.2222T>C (p.Met741Thr)
|
rs886056463
|
|
NM_014014.5(SNRNP200):c.2839C>G (p.Pro947Ala)
|
rs886056462
|
|
NM_014014.5(SNRNP200):c.3258+12G>A
|
rs886056461
|
|
NM_014014.5(SNRNP200):c.3322A>G (p.Thr1108Ala)
|
|
|
NM_014014.5(SNRNP200):c.3454C>T (p.Arg1152Cys)
|
|
|
NM_014014.5(SNRNP200):c.3632A>G (p.Asp1211Gly)
|
rs886056460
|
|
NM_014014.5(SNRNP200):c.3888C>A (p.Pro1296=)
|
rs143175658
|
|
NM_014014.5(SNRNP200):c.4036G>A (p.Val1346Met)
|
rs779054512
|
|
NM_014014.5(SNRNP200):c.4424G>A (p.Arg1475His)
|
rs886056459
|
|
NM_014014.5(SNRNP200):c.4786G>A (p.Asp1596Asn)
|
rs762326859
|
|
NM_014014.5(SNRNP200):c.5104T>C (p.Cys1702Arg)
|
rs1412783475
|
|
NM_014014.5(SNRNP200):c.5914A>C (p.Lys1972Gln)
|
|
|
NM_014014.5(SNRNP200):c.5918G>A (p.Arg1973His)
|
|
|
NM_014014.5(SNRNP200):c.6037C>T (p.Arg2013Cys)
|
rs935757494
|
|
NM_014014.5(SNRNP200):c.6203T>A (p.Ile2068Asn)
|
rs886056458
|
|
NM_014014.5(SNRNP200):c.629A>G (p.Glu210Gly)
|
rs995570532
|
|
NM_014014.5(SNRNP200):c.631-4A>T
|
rs886056467
|
|
NM_014014.5(SNRNP200):c.808C>A (p.Arg270=)
|
rs886056466
|
|
NM_014014.5(SNRNP200):c.972C>T (p.His324=)
|
rs886056465
|
|
NM_014049.5(ACAD9):c.-65GT[6]
|
rs397874507
|
|
NM_014049.5(ACAD9):c.1037T>G (p.Phe346Cys)
|
|
|
NM_014049.5(ACAD9):c.106G>C (p.Val36Leu)
|
rs780117832
|
|
NM_014049.5(ACAD9):c.1191G>A (p.Ala397=)
|
rs774763527
|
|
NM_014049.5(ACAD9):c.1330G>A (p.Ala444Thr)
|
rs753310622
|
|
NM_014049.5(ACAD9):c.1366A>G (p.Lys456Glu)
|
rs2107662601
|
|
NM_014049.5(ACAD9):c.1429C>G (p.Arg477Gly)
|
|
|
NM_014049.5(ACAD9):c.1715G>A (p.Cys572Tyr)
|
rs778558550
|
|
NM_014049.5(ACAD9):c.1798_1801del (p.Lys600fs)
|
rs917547961
|
|
NM_014049.5(ACAD9):c.217C>A (p.Pro73Thr)
|
rs557401373
|
|
NM_014049.5(ACAD9):c.244+3A>G
|
|
|
NM_014049.5(ACAD9):c.366C>T (p.Asn122=)
|
rs1935539638
|
|
NM_014049.5(ACAD9):c.383T>G (p.Leu128Arg)
|
rs1935540267
|
|
NM_014049.5(ACAD9):c.388G>A (p.Glu130Lys)
|
rs1935540558
|
|
NM_014049.5(ACAD9):c.41C>T (p.Ala14Val)
|
rs886057954
|
|
NM_014049.5(ACAD9):c.55G>T (p.Gly19Cys)
|
|
|
NM_014049.5(ACAD9):c.665T>C (p.Ile222Thr)
|
rs863223874
|
|
NM_014049.5(ACAD9):c.755G>A (p.Gly252Asp)
|
rs1935665522
|
|
NM_014049.5(ACAD9):c.793A>G (p.Ile265Val)
|
|
|
NM_014049.5(ACAD9):c.898C>G (p.Leu300Val)
|
|
|
NM_014049.5(ACAD9):c.976G>T (p.Ala326Ser)
|
rs115532916
|
|
NM_014053.4(FLVCR1):c.1026T>C (p.Gly342=)
|
rs1404200133
|
|
NM_014053.4(FLVCR1):c.806T>C (p.Leu269Pro)
|
rs2102536303
|
|
NM_014249.4(NR2E3):c.*144A>T
|
rs886051454
|
|
NM_014249.4(NR2E3):c.*197T>G
|
rs779157022
|
|
NM_014249.4(NR2E3):c.*330C>G
|
rs2054240984
|
|
NM_014249.4(NR2E3):c.*340G>C
|
rs886051456
|
|
NM_014249.4(NR2E3):c.*400G>C
|
rs2054241697
|
|
NM_014249.4(NR2E3):c.*431C>T
|
rs2054241914
|
|
NM_014249.4(NR2E3):c.*54G>A
|
rs1007200933
|
|
NM_014249.4(NR2E3):c.*554A>C
|
rs886051458
|
|
NM_014249.4(NR2E3):c.-139G>T
|
rs138513681
|
|
NM_014249.4(NR2E3):c.1127C>A (p.Pro376Gln)
|
rs527428190
|
|
NM_014249.4(NR2E3):c.1127C>T (p.Pro376Leu)
|
rs527428190
|
|
NM_014249.4(NR2E3):c.222C>G (p.Ser74Arg)
|
rs767304567
|
|
NM_014249.4(NR2E3):c.24G>A (p.Leu8=)
|
rs2054171622
|
|
NM_014249.4(NR2E3):c.321G>A (p.Lys107=)
|
rs886051450
|
|
NM_014249.4(NR2E3):c.349+7C>T
|
rs900547
|
|
NM_014249.4(NR2E3):c.402C>A (p.Ser134Arg)
|
rs886051452
|
|
NM_014249.4(NR2E3):c.653A>G (p.Asp218Gly)
|
rs2140290038
|
|
NM_014249.4(NR2E3):c.767C>T (p.Ala256Val)
|
rs377257254
|
|
NM_014249.4(NR2E3):c.838C>G (p.Pro280Ala)
|
rs769154628
|
|
NM_014249.4(NR2E3):c.925C>T (p.Arg309Trp)
|
rs774102273
|
|
NM_014251.3(SLC25A13):c.*330G>T
|
rs886062525
|
|
NM_014251.3(SLC25A13):c.*40C>T
|
rs542828845
|
|
NM_014251.3(SLC25A13):c.*507T>C
|
rs886062524
|
|
NM_014251.3(SLC25A13):c.-107G>A
|
rs886062531
|
|
NM_014251.3(SLC25A13):c.-10G>A
|
rs886062530
|
|
NM_014251.3(SLC25A13):c.-97CCG[6]
|
rs759638459
|
|
NM_014251.3(SLC25A13):c.-99C>A
|
rs972820304
|
|
NM_014251.3(SLC25A13):c.1012G>C (p.Ala338Pro)
|
rs2116631318
|
|
NM_014251.3(SLC25A13):c.107C>G (p.Ser36Cys)
|
rs1447976736
|
|
NM_014251.3(SLC25A13):c.110C>G (p.Pro37Arg)
|
|
|
NM_014251.3(SLC25A13):c.1151A>T (p.Tyr384Phe)
|
rs1197228945
|
|
NM_014251.3(SLC25A13):c.1177+5G>A
|
rs886062527
|
|
NM_014251.3(SLC25A13):c.1256T>G (p.Phe419Cys)
|
rs2116577055
|
|
NM_014251.3(SLC25A13):c.1274C>T (p.Ser425Leu)
|
|
|
NM_014251.3(SLC25A13):c.1312-12del
|
rs771217878
|
|
NM_014251.3(SLC25A13):c.1313C>T (p.Ala438Val)
|
rs886062526
|
|
NM_014251.3(SLC25A13):c.1340A>G (p.Asn447Ser)
|
|
|
NM_014251.3(SLC25A13):c.1349A>G (p.Glu450Gly)
|
|
|
NM_014251.3(SLC25A13):c.135G>C (p.Leu45Phe)
|
rs1798490375
|
|
NM_014251.3(SLC25A13):c.1400G>A (p.Arg467Gln)
|
|
|
NM_014251.3(SLC25A13):c.1411C>G (p.Leu471Val)
|
|
|
NM_014251.3(SLC25A13):c.1415C>T (p.Ser472Phe)
|
rs749990010
|
|
NM_014251.3(SLC25A13):c.1420G>A (p.Val474Met)
|
rs554809009
|
|
NM_014251.3(SLC25A13):c.1420G>C (p.Val474Leu)
|
|
|
NM_014251.3(SLC25A13):c.1424G>A (p.Arg475Gln)
|
|
|
NM_014251.3(SLC25A13):c.1433G>A (p.Gly478Glu)
|
rs1792802405
|
|
NM_014251.3(SLC25A13):c.1448A>G (p.Tyr483Cys)
|
|
|
NM_014251.3(SLC25A13):c.1452+5C>G
|
|
|
NM_014251.3(SLC25A13):c.1453-3C>T
|
|
|
NM_014251.3(SLC25A13):c.1495A>G (p.Ile499Val)
|
rs1388764303
|
|
NM_014251.3(SLC25A13):c.1591+4A>G
|
|
|
NM_014251.3(SLC25A13):c.1653_1655del (p.Ala552del)
|
rs781077173
|
|
NM_014251.3(SLC25A13):c.1666_1842-31del
|
rs2116381204
|
|
NM_014251.3(SLC25A13):c.1712G>A (p.Arg571His)
|
|
|
NM_014251.3(SLC25A13):c.1797T>A (p.Thr599=)
|
rs757177279
|
|
NM_014251.3(SLC25A13):c.1818G>T (p.Trp606Cys)
|
rs893906065
|
|
NM_014251.3(SLC25A13):c.1833del (p.Phe611fs)
|
rs1791512056
|
|
NM_014251.3(SLC25A13):c.1894C>T (p.Pro632Ser)
|
rs2116380826
|
|
NM_014251.3(SLC25A13):c.1895C>T (p.Pro632Leu)
|
|
|
NM_014251.3(SLC25A13):c.1916del (p.Gly639fs)
|
rs1562773708
|
|
NM_014251.3(SLC25A13):c.1955A>G (p.Asn652Ser)
|
|
|
NM_014251.3(SLC25A13):c.2026T>C (p.Ter676Gln)
|
|
|
NM_014251.3(SLC25A13):c.308G>A (p.Gly103Asp)
|
rs2116815391
|
|
NM_014251.3(SLC25A13):c.415G>A (p.Gly139Arg)
|
rs1269555090
|
|
NM_014251.3(SLC25A13):c.416G>A (p.Gly139Glu)
|
|
|
NM_014251.3(SLC25A13):c.508C>T (p.Arg170Trp)
|
rs111674765
|
|
NM_014251.3(SLC25A13):c.517G>T (p.Ala173Ser)
|
rs1387446179
|
|
NM_014251.3(SLC25A13):c.53G>C (p.Arg18Thr)
|
|
|
NM_014251.3(SLC25A13):c.580G>A (p.Val194Ile)
|
|
|
NM_014251.3(SLC25A13):c.595G>A (p.Val199Ile)
|
rs2116662640
|
|
NM_014251.3(SLC25A13):c.614C>T (p.Ala205Val)
|
rs1562831497
|
|
NM_014251.3(SLC25A13):c.616-11A>G
|
rs879255503
|
|
NM_014251.3(SLC25A13):c.633A>C (p.Thr211=)
|
rs1794836188
|
|
NM_014251.3(SLC25A13):c.655T>C (p.Tyr219His)
|
|
|
NM_014251.3(SLC25A13):c.688A>G (p.Met230Val)
|
rs767411822
|
|
NM_014251.3(SLC25A13):c.69+5G>C
|
|
|
NM_014251.3(SLC25A13):c.701G>C (p.Arg234Thr)
|
rs986941373
|
|
NM_014251.3(SLC25A13):c.711T>C (p.Tyr237=)
|
rs886062529
|
|
NM_014251.3(SLC25A13):c.79A>G (p.Ile27Val)
|
rs1798494534
|
|
NM_014251.3(SLC25A13):c.848+10del
|
rs886062528
|
|
NM_014251.3(SLC25A13):c.850C>T (p.Arg284Cys)
|
|
|
NM_014251.3(SLC25A13):c.91G>A (p.Gly31Ser)
|
|
|
NM_014251.3(SLC25A13):c.977C>T (p.Ala326Val)
|
|
|
NM_014252.3(SLC25A15):c.-273C>G
|
rs541415883
|
|
NM_014252.4(SLC25A15):c.*1485T>A
|
rs886050244
|
|
NM_014252.4(SLC25A15):c.*1737G>A
|
rs574269155
|
|
NM_014252.4(SLC25A15):c.*1788C>T
|
rs1882447087
|
|
NM_014252.4(SLC25A15):c.*1801G>A
|
rs536912632
|
|
NM_014252.4(SLC25A15):c.*189A>C
|
rs147308374
|
|
NM_014252.4(SLC25A15):c.*1974A>G
|
rs1882457845
|
|
NM_014252.4(SLC25A15):c.*2279G>C
|
rs962015601
|
|
NM_014252.4(SLC25A15):c.*2451T>C
|
rs1882481102
|
|
NM_014252.4(SLC25A15):c.*2563G>T
|
rs574652330
|
|
NM_014252.4(SLC25A15):c.*2631G>A
|
rs1882489563
|
|
NM_014252.4(SLC25A15):c.*2771A>G
|
rs1882495767
|
|
NM_014252.4(SLC25A15):c.*490T>G
|
rs1393402824
|
|
NM_014252.4(SLC25A15):c.*548G>A
|
rs1882388715
|
|
NM_014252.4(SLC25A15):c.*748G>A
|
rs1593297068
|
|
NM_014252.4(SLC25A15):c.-120C>G
|
rs1881409086
|
|
NM_014252.4(SLC25A15):c.11A>G (p.Asn4Ser)
|
|
|
NM_014252.4(SLC25A15):c.145G>A (p.Asp49Asn)
|
rs539373322
|
|
NM_014252.4(SLC25A15):c.158A>G (p.Lys53Arg)
|
rs746560103
|
|
NM_014252.4(SLC25A15):c.16G>C (p.Ala6Pro)
|
|
|
NM_014252.4(SLC25A15):c.172G>A (p.Val58Met)
|
|
|
NM_014252.4(SLC25A15):c.182G>C (p.Arg61Pro)
|
rs34615430
|
|
NM_014252.4(SLC25A15):c.191A>T (p.Tyr64Phe)
|
|
|
NM_014252.4(SLC25A15):c.217G>T (p.Ala73Ser)
|
|
|
NM_014252.4(SLC25A15):c.248T>C (p.Met83Thr)
|
|
|
NM_014252.4(SLC25A15):c.249G>A (p.Met83Ile)
|
rs765128094
|
|
NM_014252.4(SLC25A15):c.286G>T (p.Ala96Ser)
|
|
|
NM_014252.4(SLC25A15):c.32T>C (p.Ile11Thr)
|
rs1279446692
|
|
NM_014252.4(SLC25A15):c.343T>G (p.Phe115Val)
|
rs886050240
|
|
NM_014252.4(SLC25A15):c.364C>G (p.Leu122Val)
|
rs1438281063
|
|
NM_014252.4(SLC25A15):c.375C>T (p.Cys125=)
|
rs1882122356
|
|
NM_014252.4(SLC25A15):c.391A>C (p.Lys131Gln)
|
|
|
NM_014252.4(SLC25A15):c.411G>T (p.Met137Ile)
|
rs1882125551
|
|
NM_014252.4(SLC25A15):c.443A>T (p.Lys148Met)
|
|
|
NM_014252.4(SLC25A15):c.45G>A (p.Ala15=)
|
rs200958757
|
|
NM_014252.4(SLC25A15):c.47G>A (p.Gly16Glu)
|
rs2138039633
|
|
NM_014252.4(SLC25A15):c.506T>C (p.Phe169Ser)
|
rs796052041
|
|
NM_014252.4(SLC25A15):c.50C>G (p.Ala17Gly)
|
|
|
NM_014252.4(SLC25A15):c.512A>G (p.His171Arg)
|
|
|
NM_014252.4(SLC25A15):c.530T>C (p.Leu177Ser)
|
rs2138056755
|
|
NM_014252.4(SLC25A15):c.536G>T (p.Arg179Leu)
|
rs1172814707
|
|
NM_014252.4(SLC25A15):c.541G>C (p.Val181Leu)
|
|
|
NM_014252.4(SLC25A15):c.552T>C (p.Tyr184=)
|
rs374352017
|
|
NM_014252.4(SLC25A15):c.554T>C (p.Phe185Ser)
|
|
|
NM_014252.4(SLC25A15):c.565G>A (p.Gly189Ser)
|
rs151239794
|
|
NM_014252.4(SLC25A15):c.56G>C (p.Gly19Ala)
|
|
|
NM_014252.4(SLC25A15):c.584G>A (p.Arg195Gln)
|
|
|
NM_014252.4(SLC25A15):c.631C>T (p.Pro211Ser)
|
|
|
NM_014252.4(SLC25A15):c.646G>A (p.Gly216Ser)
|
rs1417167600
|
|
NM_014252.4(SLC25A15):c.70G>A (p.Val24Ile)
|
|
|
NM_014252.4(SLC25A15):c.715G>A (p.Val239Ile)
|
|
|
NM_014252.4(SLC25A15):c.731G>T (p.Gly244Val)
|
rs747658091
|
|
NM_014252.4(SLC25A15):c.800C>G (p.Ser267Cys)
|
|
|
NM_014252.4(SLC25A15):c.818T>A (p.Met273Lys)
|
rs202247808
|
|
NM_014252.4(SLC25A15):c.854T>C (p.Leu285Ser)
|
rs1882361798
|
|
NM_014252.4(SLC25A15):c.866A>G (p.Tyr289Cys)
|
|
|
NM_014252.4(SLC25A15):c.883A>G (p.Met295Val)
|
|
|
NM_014252.4(SLC25A15):c.95C>T (p.Thr32Ile)
|
|
|
NM_014270.5(SLC7A9):c.*77T>C
|
rs886054327
|
|
NM_014270.5(SLC7A9):c.1043G>A (p.Arg348His)
|
|
|
NM_014270.5(SLC7A9):c.1112_1113del (p.Ile371fs)
|
rs772235897
|
|
NM_014270.5(SLC7A9):c.1242C>A (p.Pro414=)
|
rs536084711
|
|
NM_014270.5(SLC7A9):c.1276C>T (p.Leu426=)
|
rs760033221
|
|
NM_014270.5(SLC7A9):c.1362T>G (p.Phe454Leu)
|
|
|
NM_014270.5(SLC7A9):c.1399+4_1399+7del
|
rs747593886
|
|
NM_014270.5(SLC7A9):c.251C>T (p.Ala84Val)
|
|
|
NM_014270.5(SLC7A9):c.348C>G (p.Ser116Arg)
|
rs1968893018
|
|
NM_014270.5(SLC7A9):c.460_471del (p.Leu154_Ala157del)
|
rs1968887418
|
|
NM_014270.5(SLC7A9):c.512G>A (p.Arg171Gln)
|
|
|
NM_014270.5(SLC7A9):c.547G>C (p.Ala183Pro)
|
|
|
NM_014270.5(SLC7A9):c.878T>C (p.Phe293Ser)
|
|
|
NM_014270.5(SLC7A9):c.968C>T (p.Thr323Ile)
|
rs1968692991
|
|
NM_014270.5(SLC7A9):c.992C>T (p.Ala331Val)
|
rs768466784
|
|
NM_014336.5(AIPL1):c.*1165C>T
|
rs528789571
|
|
NM_014336.5(AIPL1):c.*1335A>C
|
rs886053260
|
|
NM_014336.5(AIPL1):c.*1459G>T
|
rs886053256
|
|
NM_014336.5(AIPL1):c.*148A>C
|
rs79118582
|
|
NM_014336.5(AIPL1):c.*1537C>A
|
rs886053255
|
|
NM_014336.5(AIPL1):c.*164G>A
|
rs1166950496
|
|
NM_014336.5(AIPL1):c.*1679G>C
|
rs886053254
|
|
NM_014336.5(AIPL1):c.*486G>T
|
rs1230088097
|
|
NM_014336.5(AIPL1):c.*564G>A
|
rs1567633310
|
|
NM_014336.5(AIPL1):c.1090G>T (p.Ala364Ser)
|
rs201875142
|
|
NM_014336.5(AIPL1):c.73C>A (p.Pro25Thr)
|
rs886053268
|
|
NM_014336.5(AIPL1):c.970C>A (p.Arg324=)
|
rs375096209
|
|
NM_014336.5(AIPL1):c.971G>T (p.Arg324Leu)
|
rs150427474
|
|
NM_014362.4(HIBCH):c.1004C>T (p.Ala335Val)
|
|
|
NM_014362.4(HIBCH):c.1012-10T>G
|
rs1246020574
|
|
NM_014362.4(HIBCH):c.1024T>C (p.Phe342Leu)
|
|
|
NM_014362.4(HIBCH):c.1028A>T (p.His343Leu)
|
|
|
NM_014362.4(HIBCH):c.1034G>T (p.Gly345Val)
|
rs1260531370
|
|
NM_014362.4(HIBCH):c.1035C>T (p.Gly345=)
|
|
|
NM_014362.4(HIBCH):c.1045G>C (p.Val349Leu)
|
|
|
NM_014362.4(HIBCH):c.1053T>G (p.Ile351Met)
|
rs1575690635
|
|
NM_014362.4(HIBCH):c.1084G>A (p.Ala362Thr)
|
|
|
NM_014362.4(HIBCH):c.1128del (p.Phe376fs)
|
rs863225062
|
|
NM_014362.4(HIBCH):c.1139G>A (p.Gly380Glu)
|
|
|
NM_014362.4(HIBCH):c.11G>T (p.Arg4Leu)
|
rs749741622
|
|
NM_014362.4(HIBCH):c.125A>G (p.Lys42Arg)
|
|
|
NM_014362.4(HIBCH):c.175G>T (p.Ala59Ser)
|
|
|
NM_014362.4(HIBCH):c.182C>T (p.Thr61Ile)
|
rs1575757363
|
|
NM_014362.4(HIBCH):c.219G>A (p.Lys73=)
|
|
|
NM_014362.4(HIBCH):c.222G>A (p.Lys74=)
|
|
|
NM_014362.4(HIBCH):c.253A>T (p.Ile85Phe)
|
|
|
NM_014362.4(HIBCH):c.284G>C (p.Cys95Ser)
|
rs2105990079
|
|
NM_014362.4(HIBCH):c.288C>T (p.Ala96=)
|
|
|
NM_014362.4(HIBCH):c.311C>T (p.Ser104Leu)
|
|
|
NM_014362.4(HIBCH):c.324G>T (p.Lys108Asn)
|
|
|
NM_014362.4(HIBCH):c.35G>A (p.Arg12Lys)
|
|
|
NM_014362.4(HIBCH):c.410C>T (p.Ala137Val)
|
rs1114167288
|
|
NM_014362.4(HIBCH):c.438+4A>G
|
|
|
NM_014362.4(HIBCH):c.439-2A>G
|
rs1180861300
|
|
NM_014362.4(HIBCH):c.4G>A (p.Gly2Arg)
|
rs1341440380
|
|
NM_014362.4(HIBCH):c.529G>C (p.Asp177His)
|
rs1315908015
|
|
NM_014362.4(HIBCH):c.56C>G (p.Thr19Ser)
|
|
|
NM_014362.4(HIBCH):c.594A>T (p.Thr198=)
|
|
|
NM_014362.4(HIBCH):c.616G>A (p.Asp206Asn)
|
|
|
NM_014362.4(HIBCH):c.68T>A (p.Leu23Gln)
|
|
|
NM_014362.4(HIBCH):c.692C>T (p.Ala231Val)
|
|
|
NM_014362.4(HIBCH):c.712G>A (p.Glu238Lys)
|
|
|
NM_014362.4(HIBCH):c.716A>G (p.Asn239Ser)
|
|
|
NM_014362.4(HIBCH):c.751-4A>G
|
|
|
NM_014362.4(HIBCH):c.751-5_751-2del
|
|
|
NM_014362.4(HIBCH):c.763C>G (p.Arg255Gly)
|
rs1248460683
|
|
NM_014362.4(HIBCH):c.832G>A (p.Glu278Lys)
|
|
|
NM_014362.4(HIBCH):c.863G>C (p.Gly288Ala)
|
|
|
NM_014362.4(HIBCH):c.925A>G (p.Ile309Val)
|
|
|
NM_014362.4(HIBCH):c.932T>G (p.Leu311Arg)
|
|
|
NM_014362.4(HIBCH):c.945G>A (p.Met315Ile)
|
|
|
NM_014362.4(HIBCH):c.958A>G (p.Lys320Glu)
|
|
|
NM_014362.4(HIBCH):c.974T>G (p.Val325Gly)
|
rs751484433
|
|
NM_014384.3(ACAD8):c.*306C>T
|
rs886048027
|
|
NM_014384.3(ACAD8):c.*441C>G
|
rs886048028
|
|
NM_014384.3(ACAD8):c.*634T>C
|
rs1940131247
|
|
NM_014384.3(ACAD8):c.*69G>T
|
rs371730378
|
|
NM_014384.3(ACAD8):c.*874C>G
|
rs756666725
|
|
NM_014384.3(ACAD8):c.104T>G (p.Ile35Ser)
|
|
|
NM_014384.3(ACAD8):c.1057A>G (p.Met353Val)
|
rs2136083488
|
|
NM_014384.3(ACAD8):c.1084T>C (p.Cys362Arg)
|
rs995149464
|
|
NM_014384.3(ACAD8):c.109+19G>T
|
|
|
NM_014384.3(ACAD8):c.1092+3_1092+6del
|
rs780925587
|
|
NM_014384.3(ACAD8):c.1097G>A (p.Cys366Tyr)
|
|
|
NM_014384.3(ACAD8):c.109C>T (p.Pro37Ser)
|
|
|
NM_014384.3(ACAD8):c.110-6C>T
|
rs559628768
|
|
NM_014384.3(ACAD8):c.1193A>G (p.Glu398Gly)
|
rs1218106884
|
|
NM_014384.3(ACAD8):c.1195+1G>A
|
rs1555067461
|
|
NM_014384.3(ACAD8):c.1196-4_1196-2del
|
rs1940101302
|
|
NM_014384.3(ACAD8):c.121C>A (p.Leu41Ile)
|
rs2136075017
|
|
NM_014384.3(ACAD8):c.130G>A (p.Glu44Lys)
|
|
|
NM_014384.3(ACAD8):c.235C>G (p.Arg79Gly)
|
rs377629003
|
|
NM_014384.3(ACAD8):c.259G>A (p.Gly87Arg)
|
|
|
NM_014384.3(ACAD8):c.275A>G (p.Gln92Arg)
|
rs886048022
|
|
NM_014384.3(ACAD8):c.293C>T (p.Ser98Phe)
|
rs948304437
|
|
NM_014384.3(ACAD8):c.316T>C (p.Ser106Pro)
|
rs2136076309
|
|
NM_014384.3(ACAD8):c.32C>T (p.Ala11Val)
|
rs773403936
|
|
NM_014384.3(ACAD8):c.340A>G (p.Thr114Ala)
|
rs935057058
|
|
NM_014384.3(ACAD8):c.344G>A (p.Gly115Asp)
|
|
|
NM_014384.3(ACAD8):c.368T>A (p.Ile123Lys)
|
rs1353919966
|
|
NM_014384.3(ACAD8):c.372C>G (p.Ser124Arg)
|
|
|
NM_014384.3(ACAD8):c.375C>G (p.Ile125Met)
|
|
|
NM_014384.3(ACAD8):c.381-4T>A
|
rs886048023
|
|
NM_014384.3(ACAD8):c.422A>G (p.Gln141Arg)
|
rs2136078898
|
|
NM_014384.3(ACAD8):c.431A>G (p.Lys144Arg)
|
rs1301535598
|
|
NM_014384.3(ACAD8):c.432A>G (p.Lys144=)
|
rs886048024
|
|
NM_014384.3(ACAD8):c.453C>T (p.Thr151=)
|
rs1939688110
|
|
NM_014384.3(ACAD8):c.459G>A (p.Glu153=)
|
|
|
NM_014384.3(ACAD8):c.494G>T (p.Ser165Ile)
|
|
|
NM_014384.3(ACAD8):c.584C>A (p.Ala195Asp)
|
rs774591276
|
|
NM_014384.3(ACAD8):c.64G>T (p.Val22Phe)
|
rs1274417206
|
|
NM_014384.3(ACAD8):c.687T>G (p.Phe229Leu)
|
|
|
NM_014384.3(ACAD8):c.730C>G (p.Arg244Gly)
|
|
|
NM_014384.3(ACAD8):c.763G>A (p.Val255Met)
|
rs899220061
|
|
NM_014384.3(ACAD8):c.782G>A (p.Ser261Asn)
|
rs2136082301
|
|
NM_014384.3(ACAD8):c.794G>C (p.Gly265Ala)
|
rs1246888184
|
|
NM_014384.3(ACAD8):c.79G>A (p.Gly27Ser)
|
|
|
NM_014384.3(ACAD8):c.822C>A (p.Asn274Lys)
|
rs371156848
|
|
NM_014384.3(ACAD8):c.833T>C (p.Ile278Thr)
|
rs1317315596
|
|
NM_014384.3(ACAD8):c.841+15G>A
|
rs770612690
|
|
NM_014384.3(ACAD8):c.849C>G (p.Cys283Trp)
|
rs1939865617
|
|
NM_014384.3(ACAD8):c.859G>C (p.Ala287Pro)
|
|
|
NM_014384.3(ACAD8):c.867C>G (p.His289Gln)
|
rs121908421
|
|
NM_014384.3(ACAD8):c.868G>A (p.Ala290Thr)
|
|
|
NM_014384.3(ACAD8):c.868G>C (p.Ala290Pro)
|
|
|
NM_014384.3(ACAD8):c.905G>C (p.Arg302Pro)
|
rs121908422
|
|
NM_014384.3(ACAD8):c.940-13C>G
|
|
|
NM_014384.3(ACAD8):c.965T>G (p.Met322Arg)
|
rs577976129
|
|
NM_014384.3(ACAD8):c.986C>T (p.Ala329Val)
|
|
|
NM_014714.4(IFT140):c.1049T>C (p.Met350Thr)
|
rs1188370536
|
|
NM_014714.4(IFT140):c.1369G>A (p.Ala457Thr)
|
rs747510464
|
|
NM_014714.4(IFT140):c.1405C>G (p.Leu469Val)
|
rs190034269
|
|
NM_014714.4(IFT140):c.1429G>T (p.Ala477Ser)
|
rs2034677396
|
|
NM_014714.4(IFT140):c.1541_1542delinsAA (p.Leu514Gln)
|
rs886043802
|
|
NM_014714.4(IFT140):c.1649G>C (p.Arg550Pro)
|
rs762399912
|
|
NM_014714.4(IFT140):c.1717G>A (p.Ala573Thr)
|
rs528350505
|
|
NM_014714.4(IFT140):c.1945G>A (p.Val649Met)
|
rs534052238
|
|
NM_014714.4(IFT140):c.2355A>G (p.Ile785Met)
|
rs2033196611
|
|
NM_014714.4(IFT140):c.2458G>A (p.Ala820Thr)
|
rs2141185138
|
|
NM_014714.4(IFT140):c.2612G>A (p.Arg871His)
|
rs905240853
|
|
NM_014714.4(IFT140):c.2617G>C (p.Asp873His)
|
rs560840162
|
|
NM_014714.4(IFT140):c.2627A>G (p.Asn876Ser)
|
rs775517181
|
|
NM_014714.4(IFT140):c.2650C>G (p.Arg884Gly)
|
rs554196965
|
|
NM_014714.4(IFT140):c.2682C>A (p.His894Gln)
|
rs774192784
|
|
NM_014714.4(IFT140):c.2828C>T (p.Pro943Leu)
|
rs200561100
|
|
NM_014714.4(IFT140):c.2834T>C (p.Leu945Pro)
|
rs2141175065
|
|
NM_014714.4(IFT140):c.2909_2920del (p.Glu970_Ala973del)
|
rs1489901262
|
|
NM_014714.4(IFT140):c.3052C>T (p.Arg1018Cys)
|
rs767290624
|
|
NM_014714.4(IFT140):c.3142_3144del
|
rs754866110
|
|
NM_014714.4(IFT140):c.3157G>A (p.Asp1053Asn)
|
rs148194893
|
|
NM_014714.4(IFT140):c.3176C>T (p.Ala1059Val)
|
rs779603114
|
|
NM_014714.4(IFT140):c.3215G>A (p.Arg1072Gln)
|
rs201884886
|
|
NM_014714.4(IFT140):c.328C>A (p.Arg110Ser)
|
rs140159548
|
|
NM_014714.4(IFT140):c.328C>T (p.Arg110Cys)
|
rs140159548
|
|
NM_014714.4(IFT140):c.3425C>T (p.Ala1142Val)
|
rs370255916
|
|
NM_014714.4(IFT140):c.3598A>G (p.Met1200Val)
|
rs566568065
|
|
NM_014714.4(IFT140):c.3943GCCAAG[4] (p.1315AK[4])
|
rs746697405
|
|
NM_014714.4(IFT140):c.4159G>A (p.Val1387Met)
|
rs142668269
|
|
NM_014714.4(IFT140):c.4159G>T (p.Val1387Leu)
|
rs142668269
|
|
NM_014714.4(IFT140):c.4273C>T (p.Arg1425Trp)
|
rs138697817
|
|
NM_014714.4(IFT140):c.4347_4367del (p.Leu1450_Glu1456del)
|
rs760889117
|
|
NM_014714.4(IFT140):c.481C>A (p.Pro161Thr)
|
rs148462329
|
|
NM_014714.4(IFT140):c.482C>A (p.Pro161His)
|
rs191927317
|
|
NM_014714.4(IFT140):c.683C>G (p.Ser228Cys)
|
rs752659125
|
|
NM_014714.4(IFT140):c.797AAG[1] (p.Glu267del)
|
rs2035068981
|
|
NM_014714.4(IFT140):c.867C>G (p.Ser289Arg)
|
rs145858131
|
|
NM_014714.4(IFT140):c.89T>C (p.Leu30Ser)
|
rs2142099911
|
|
NM_014714.4(IFT140):c.997T>C (p.Cys333Arg)
|
rs2141851372
|
|
NM_014748.4(SNX17):c.*609C>G
|
rs536704518
|
|
NM_014748.4(SNX17):c.*662C>T
|
rs1004503387
|
|
NM_014989.7(RIMS1):c.3338G>C (p.Arg1113Thr)
|
rs2154175134
|
|
NM_015506.3(MMACHC):c.*5C>G
|
rs557994288
|
|
NM_015506.3(MMACHC):c.137C>G (p.Pro46Arg)
|
rs2149323209
|
|
NM_015506.3(MMACHC):c.140C>A (p.Thr47Asn)
|
|
|
NM_015506.3(MMACHC):c.140C>T (p.Thr47Ile)
|
|
|
NM_015506.3(MMACHC):c.145G>A (p.Ala49Thr)
|
|
|
NM_015506.3(MMACHC):c.145G>C (p.Ala49Pro)
|
rs775502093
|
|
NM_015506.3(MMACHC):c.162C>G (p.Ser54Arg)
|
rs750127773
|
|
NM_015506.3(MMACHC):c.164C>T (p.Thr55Met)
|
|
|
NM_015506.3(MMACHC):c.182G>A (p.Arg61Gln)
|
rs201777449
|
|
NM_015506.3(MMACHC):c.222G>T (p.Met74Ile)
|
rs772225967
|
|
NM_015506.3(MMACHC):c.245G>A (p.Cys82Tyr)
|
|
|
NM_015506.3(MMACHC):c.254A>C (p.Tyr85Ser)
|
|
|
NM_015506.3(MMACHC):c.265C>T (p.Arg89Cys)
|
|
|
NM_015506.3(MMACHC):c.266G>A (p.Arg89His)
|
|
|
NM_015506.3(MMACHC):c.276+5G>A
|
|
|
NM_015506.3(MMACHC):c.277-8_277-3dup
|
rs756072947
|
|
NM_015506.3(MMACHC):c.286G>A (p.Glu96Lys)
|
|
|
NM_015506.3(MMACHC):c.311A>T (p.Asp104Val)
|
rs1553162829
|
|
NM_015506.3(MMACHC):c.313_315del (p.Tyr105del)
|
rs1557607881
|
|
NM_015506.3(MMACHC):c.319G>A (p.Val107Met)
|
rs758730415
|
|
NM_015506.3(MMACHC):c.327_329delinsATTGCTGACTAC (p.Asn110delinsLeuLeuThrThr)
|
rs2149323547
|
|
NM_015506.3(MMACHC):c.343A>G (p.Ile115Val)
|
|
|
NM_015506.3(MMACHC):c.354_365del (p.Gln118_Ala121del)
|
rs1643666069
|
|
NM_015506.3(MMACHC):c.356C>G (p.Thr119Arg)
|
rs1006520706
|
|
NM_015506.3(MMACHC):c.358G>T (p.Ala120Ser)
|
|
|
NM_015506.3(MMACHC):c.373_381del (p.Gly125_Ala127del)
|
rs1553162848
|
|
NM_015506.3(MMACHC):c.385T>C (p.Tyr129His)
|
|
|
NM_015506.3(MMACHC):c.392_394del (p.Gln131del)
|
rs779234540
|
|
NM_015506.3(MMACHC):c.393A>C (p.Gln131His)
|
rs2149323606
|
|
NM_015506.3(MMACHC):c.395G>A (p.Arg132Gln)
|
rs369335868
|
|
NM_015506.3(MMACHC):c.395_397del (p.Arg132del)
|
rs1455190457
|
|
NM_015506.3(MMACHC):c.433A>G (p.Ile145Val)
|
rs74365027
|
|
NM_015506.3(MMACHC):c.436_450del (p.Ser146_Ile150del)
|
rs747550590
|
|
NM_015506.3(MMACHC):c.445_446del (p.Cys149fs)
|
rs796051999
|
|
NM_015506.3(MMACHC):c.460T>C (p.Phe154Leu)
|
|
|
NM_015506.3(MMACHC):c.467G>A (p.Gly156Asp)
|
rs1553162910
|
|
NM_015506.3(MMACHC):c.488T>C (p.Val163Ala)
|
rs1570832855
|
|
NM_015506.3(MMACHC):c.490G>A (p.Val164Met)
|
rs1417321919
|
|
NM_015506.3(MMACHC):c.491TGC[2] (p.Leu166del)
|
rs1249948465
|
|
NM_015506.3(MMACHC):c.502G>A (p.Gly168Arg)
|
|
|
NM_015506.3(MMACHC):c.503G>A (p.Gly168Glu)
|
|
|
NM_015506.3(MMACHC):c.506T>C (p.Ile169Thr)
|
rs1643678565
|
|
NM_015506.3(MMACHC):c.52C>T (p.Pro18Ser)
|
|
|
NM_015506.3(MMACHC):c.544T>C (p.Cys182Arg)
|
rs955468279
|
|
NM_015506.3(MMACHC):c.545G>A (p.Cys182Tyr)
|
rs372010149
|
|
NM_015506.3(MMACHC):c.547G>A (p.Val183Ile)
|
|
|
NM_015506.3(MMACHC):c.553A>C (p.Thr185Pro)
|
|
|
NM_015506.3(MMACHC):c.561_572del (p.Asp188_Ala191del)
|
rs1553162937
|
|
NM_015506.3(MMACHC):c.562G>A (p.Asp188Asn)
|
rs748747319
|
|
NM_015506.3(MMACHC):c.572C>T (p.Ala191Val)
|
rs375442063
|
|
NM_015506.3(MMACHC):c.590A>G (p.Asn197Ser)
|
|
|
NM_015506.3(MMACHC):c.598T>C (p.Trp200Arg)
|
|
|
NM_015506.3(MMACHC):c.602G>A (p.Arg201His)
|
|
|
NM_015506.3(MMACHC):c.617G>C (p.Arg206Pro)
|
rs371753672
|
|
NM_015506.3(MMACHC):c.626T>A (p.Val209Glu)
|
|
|
NM_015506.3(MMACHC):c.631C>A (p.Pro211Thr)
|
|
|
NM_015506.3(MMACHC):c.631C>T (p.Pro211Ser)
|
rs192924272
|
|
NM_015506.3(MMACHC):c.643T>C (p.Tyr215His)
|
rs755843695
|
|
NM_015506.3(MMACHC):c.649G>A (p.Glu217Lys)
|
rs483352740
|
|
NM_015506.3(MMACHC):c.650A>G (p.Glu217Gly)
|
rs199641732
|
|
NM_015506.3(MMACHC):c.701T>C (p.Leu234Ser)
|
|
|
NM_015506.3(MMACHC):c.701del (p.Leu234fs)
|
rs767339897
|
|
NM_015506.3(MMACHC):c.717_728del (p.Glu241_Ser244del)
|
|
|
NM_015506.3(MMACHC):c.720dup (p.Glu241fs)
|
|
|
NM_015506.3(MMACHC):c.728del (p.Pro243fs)
|
rs1409915649
|
|
NM_015506.3(MMACHC):c.743C>G (p.Pro248Arg)
|
rs564280688
|
|
NM_015506.3(MMACHC):c.743C>T (p.Pro248Leu)
|
|
|
NM_015506.3(MMACHC):c.745dup (p.Asp249fs)
|
rs1553162993
|
|
NM_015506.3(MMACHC):c.754T>C (p.Phe252Leu)
|
|
|
NM_015506.3(MMACHC):c.763C>G (p.Pro255Ala)
|
rs533256855
|
|
NM_015506.3(MMACHC):c.763C>T (p.Pro255Ser)
|
rs533256855
|
|
NM_015506.3(MMACHC):c.766_771del (p.Ala256_Pro257del)
|
rs796064513
|
|
NM_015506.3(MMACHC):c.771dup (p.Lys258fs)
|
rs763886783
|
|
NM_015506.3(MMACHC):c.792_818del (p.Ser264_Pro272del)
|
rs753855245
|
|
NM_015506.3(MMACHC):c.795_*18delinsGTATGGTA (p.Ala266fs)
|
rs1643689610
|
|
NM_015506.3(MMACHC):c.799C>G (p.Arg267Gly)
|
rs34258482
|
|
NM_015506.3(MMACHC):c.799dup (p.Arg267fs)
|
rs1553163005
|
|
NM_015506.3(MMACHC):c.82-11_82-8del
|
rs751236442
|
|
NM_015506.3(MMACHC):c.829C>T (p.Pro277Ser)
|
|
|
NM_015506.3(MMACHC):c.839del (p.Pro280fs)
|
rs1553163017
|
|
NM_015506.3(MMACHC):c.844C>A (p.Pro282Thr)
|
rs1553163019
|
|
NM_015506.3(MMACHC):c.847T>C (p.Ter283Arg)
|
|
|
NM_015506.3(MMACHC):c.848G>C (p.Ter283Ser)
|
rs201025783
|
|
NM_015506.3(MMACHC):c.848G>T (p.Ter283Leu)
|
rs201025783
|
|
NM_015506.3(MMACHC):c.848_*2del (p.Ter283PheextTer?)
|
rs1553163021
|
|
NM_015506.3(MMACHC):c.848del (p.Ter283TyrextTer?)
|
rs1553163024
|
|
NM_015506.3(MMACHC):c.849del (p.Ter283CysextTer?)
|
rs1553163027
|
|
NM_015509.4(NECAP1):c.100T>A (p.Ser34Thr)
|
rs2120475831
|
|
NM_015509.4(NECAP1):c.10G>A (p.Glu4Lys)
|
rs1555168520
|
|
NM_015509.4(NECAP1):c.11A>G (p.Glu4Gly)
|
rs1191200725
|
|
NM_015509.4(NECAP1):c.131C>A (p.Thr44Asn)
|
rs2120475973
|
|
NM_015509.4(NECAP1):c.178C>T (p.Leu60Phe)
|
rs1947528448
|
|
NM_015509.4(NECAP1):c.214G>T (p.Ala72Ser)
|
rs1947530992
|
|
NM_015509.4(NECAP1):c.217C>T (p.Pro73Ser)
|
rs2120476836
|
|
NM_015509.4(NECAP1):c.236G>A (p.Gly79Asp)
|
|
|
NM_015509.4(NECAP1):c.241G>T (p.Ala81Ser)
|
|
|
NM_015509.4(NECAP1):c.244G>A (p.Val82Met)
|
rs1947531325
|
|
NM_015509.4(NECAP1):c.268C>T (p.Arg90Cys)
|
rs374365372
|
|
NM_015509.4(NECAP1):c.26C>G (p.Ser9Cys)
|
|
|
NM_015509.4(NECAP1):c.302-12C>G
|
|
|
NM_015509.4(NECAP1):c.337C>T (p.Arg113Trp)
|
|
|
NM_015509.4(NECAP1):c.338G>A (p.Arg113Gln)
|
|
|
NM_015509.4(NECAP1):c.346G>T (p.Ala116Ser)
|
rs2120482566
|
|
NM_015509.4(NECAP1):c.383+3G>T
|
rs1555169180
|
|
NM_015509.4(NECAP1):c.398A>G (p.Glu133Gly)
|
|
|
NM_015509.4(NECAP1):c.422A>G (p.Gln141Arg)
|
rs2120485560
|
|
NM_015509.4(NECAP1):c.427A>G (p.Met143Val)
|
|
|
NM_015509.4(NECAP1):c.437G>T (p.Arg146Leu)
|
rs769210779
|
|
NM_015509.4(NECAP1):c.442A>G (p.Lys148Glu)
|
rs368565295
|
|
NM_015509.4(NECAP1):c.449A>G (p.Asp150Gly)
|
rs2120485644
|
|
NM_015509.4(NECAP1):c.479A>C (p.Lys160Thr)
|
|
|
NM_015509.4(NECAP1):c.515G>A (p.Gly172Asp)
|
|
|
NM_015509.4(NECAP1):c.515G>T (p.Gly172Val)
|
|
|
NM_015509.4(NECAP1):c.539G>A (p.Arg180Lys)
|
rs934424311
|
|
NM_015509.4(NECAP1):c.542G>C (p.Gly181Ala)
|
|
|
NM_015509.4(NECAP1):c.569C>G (p.Pro190Arg)
|
rs764080699
|
|
NM_015509.4(NECAP1):c.581A>T (p.Lys194Ile)
|
rs765855460
|
|
NM_015509.4(NECAP1):c.586A>C (p.Thr196Pro)
|
|
|
NM_015509.4(NECAP1):c.629T>C (p.Val210Ala)
|
rs1205804172
|
|
NM_015509.4(NECAP1):c.653C>T (p.Ser218Phe)
|
rs371472296
|
|
NM_015509.4(NECAP1):c.664G>A (p.Gly222Ser)
|
|
|
NM_015509.4(NECAP1):c.674C>G (p.Ala225Gly)
|
rs2120487076
|
|
NM_015509.4(NECAP1):c.68C>T (p.Pro23Leu)
|
rs1947447226
|
|
NM_015509.4(NECAP1):c.700C>T (p.Pro234Ser)
|
|
|
NM_015509.4(NECAP1):c.706C>T (p.Pro236Ser)
|
|
|
NM_015509.4(NECAP1):c.709G>A (p.Val237Ile)
|
|
|
NM_015509.4(NECAP1):c.715A>T (p.Thr239Ser)
|
rs1555169422
|
|
NM_015509.4(NECAP1):c.734T>C (p.Val245Ala)
|
rs2120495324
|
|
NM_015509.4(NECAP1):c.753G>T (p.Leu251Phe)
|
rs1947587871
|
|
NM_015509.4(NECAP1):c.765C>T (p.Phe255=)
|
|
|
NM_015509.4(NECAP1):c.779G>A (p.Ser260Asn)
|
rs2120495561
|
|
NM_015509.4(NECAP1):c.782C>G (p.Ser261Cys)
|
rs1264229871
|
|
NM_015509.4(NECAP1):c.790A>G (p.Asn264Asp)
|
rs2120496634
|
|
NM_015509.4(NECAP1):c.794A>T (p.Gln265Leu)
|
rs1427000545
|
|
NM_015509.4(NECAP1):c.797C>T (p.Ala266Val)
|
rs1020014973
|
|
NM_015509.4(NECAP1):c.818T>C (p.Val273Ala)
|
rs2120496797
|
|
NM_015509.4(NECAP1):c.822G>C (p.Gln274His)
|
|
|
NM_015509.4(NECAP1):c.88G>C (p.Gly30Arg)
|
|
|
NM_015509.4(NECAP1):c.8C>G (p.Thr3Ser)
|
|
|
NM_015509.4(NECAP1):c.95+3A>T
|
|
|
NM_015509.4(NECAP1):c.95+4C>T
|
|
|
NM_015629.4(PRPF31):c.*152G>T
|
rs62144169
|
|
NM_015629.4(PRPF31):c.*63G>T
|
rs2074046762
|
|
NM_015629.4(PRPF31):c.-32A>C
|
rs886054617
|
|
NM_015629.4(PRPF31):c.1007C>G (p.Pro336Arg)
|
rs1555794210
|
|
NM_015629.4(PRPF31):c.1146+2T>G
|
rs2073971890
|
|
NM_015629.4(PRPF31):c.1147-5C>G
|
rs587757028
|
|
NM_015629.4(PRPF31):c.1147-9C>G
|
rs655240
|
|
NM_015629.4(PRPF31):c.1222C>T (p.Arg408Trp)
|
rs367896277
|
|
NM_015629.4(PRPF31):c.207G>A (p.Glu69=)
|
rs886054619
|
|
NM_015629.4(PRPF31):c.33C>T (p.Leu11=)
|
rs760236177
|
|
NM_015629.4(PRPF31):c.509C>T (p.Thr170Ile)
|
rs2073843843
|
|
NM_015629.4(PRPF31):c.582G>A (p.Ala194=)
|
rs757374570
|
|
NM_015629.4(PRPF31):c.706G>A (p.Gly236Ser)
|
rs1480395880
|
|
NM_015629.4(PRPF31):c.855+5G>A
|
rs2146426154
|
|
NM_015629.4(PRPF31):c.89C>T (p.Pro30Leu)
|
|
|
NM_015629.4(PRPF31):c.945+4A>G
|
rs2073928552
|
|
NM_015629.4(PRPF31):c.946-344C>T
|
|
|
NM_015662.3(IFT172):c.100T>G (p.Cys34Gly)
|
|
|
NM_015662.3(IFT172):c.1039G>A (p.Val347Met)
|
rs773726175
|
|
NM_015662.3(IFT172):c.1039G>C (p.Val347Leu)
|
|
|
NM_015662.3(IFT172):c.1092A>T (p.Gly364=)
|
|
|
NM_015662.3(IFT172):c.1097A>C (p.Glu366Ala)
|
rs1668096577
|
|
NM_015662.3(IFT172):c.1099C>A (p.Arg367Ser)
|
|
|
NM_015662.3(IFT172):c.112C>G (p.Arg38Gly)
|
|
|
NM_015662.3(IFT172):c.113G>A (p.Arg38Gln)
|
rs552861632
|
|
NM_015662.3(IFT172):c.1156C>T (p.Arg386Trp)
|
rs1668091920
|
|
NM_015662.3(IFT172):c.1162A>G (p.Ser388Gly)
|
rs1668091082
|
|
NM_015662.3(IFT172):c.1167+3A>G
|
rs2148543961
|
|
NM_015662.3(IFT172):c.1167+5G>T
|
rs2148543947
|
|
NM_015662.3(IFT172):c.1171G>C (p.Ala391Pro)
|
|
|
NM_015662.3(IFT172):c.1198_1200del (p.Lys400del)
|
rs2148542998
|
|
NM_015662.3(IFT172):c.1225T>C (p.Cys409Arg)
|
|
|
NM_015662.3(IFT172):c.124C>A (p.Leu42Met)
|
|
|
NM_015662.3(IFT172):c.1273A>G (p.Asn425Asp)
|
rs145145347
|
|
NM_015662.3(IFT172):c.1310_1311insAAA (p.Met436_Asn437insLys)
|
|
|
NM_015662.3(IFT172):c.1325+6C>T
|
rs753078264
|
|
NM_015662.3(IFT172):c.1330C>T (p.Arg444Cys)
|
rs1038040281
|
|
NM_015662.3(IFT172):c.1340A>G (p.Glu447Gly)
|
|
|
NM_015662.3(IFT172):c.137A>T (p.His46Leu)
|
|
|
NM_015662.3(IFT172):c.1388T>C (p.Ile463Thr)
|
|
|
NM_015662.3(IFT172):c.1393A>G (p.Ile465Val)
|
rs1667974652
|
|
NM_015662.3(IFT172):c.1413G>A (p.Val471=)
|
rs2148531759
|
|
NM_015662.3(IFT172):c.1435A>G (p.Ile479Val)
|
rs1667635292
|
|
NM_015662.3(IFT172):c.1444G>C (p.Val482Leu)
|
rs771104054
|
|
NM_015662.3(IFT172):c.1448G>A (p.Ser483Asn)
|
rs1176061294
|
|
NM_015662.3(IFT172):c.1460G>A (p.Arg487His)
|
rs368967337
|
|
NM_015662.3(IFT172):c.1478T>G (p.Leu493Arg)
|
rs1282056614
|
|
NM_015662.3(IFT172):c.1507A>G (p.Arg503Gly)
|
|
|
NM_015662.3(IFT172):c.1514G>A (p.Arg505Gln)
|
|
|
NM_015662.3(IFT172):c.1525-20C>G
|
|
|
NM_015662.3(IFT172):c.153T>G (p.Asp51Glu)
|
rs537341371
|
|
NM_015662.3(IFT172):c.1544A>G (p.Glu515Gly)
|
|
|
NM_015662.3(IFT172):c.1559C>A (p.Thr520Lys)
|
|
|
NM_015662.3(IFT172):c.1559C>G (p.Thr520Arg)
|
|
|
NM_015662.3(IFT172):c.1561A>G (p.Met521Val)
|
|
|
NM_015662.3(IFT172):c.1564A>T (p.Ile522Phe)
|
rs1437298206
|
|
NM_015662.3(IFT172):c.1570A>G (p.Asn524Asp)
|
rs1667528581
|
|
NM_015662.3(IFT172):c.1571A>G (p.Asn524Ser)
|
|
|
NM_015662.3(IFT172):c.1575C>G (p.Phe525Leu)
|
rs2148528504
|
|
NM_015662.3(IFT172):c.1577G>T (p.Cys526Phe)
|
rs1667527908
|
|
NM_015662.3(IFT172):c.1615G>A (p.Val539Ile)
|
rs1667524518
|
|
NM_015662.3(IFT172):c.161C>T (p.Ser54Phe)
|
|
|
NM_015662.3(IFT172):c.1646G>C (p.Trp549Ser)
|
|
|
NM_015662.3(IFT172):c.1666G>A (p.Glu556Lys)
|
|
|
NM_015662.3(IFT172):c.1675A>G (p.Thr559Ala)
|
|
|
NM_015662.3(IFT172):c.1691G>C (p.Arg564Thr)
|
|
|
NM_015662.3(IFT172):c.1692+6T>A
|
rs771744568
|
|
NM_015662.3(IFT172):c.1698T>A (p.Asp566Glu)
|
rs765731241
|
|
NM_015662.3(IFT172):c.1712A>C (p.Glu571Ala)
|
|
|
NM_015662.3(IFT172):c.1714C>T (p.Arg572Trp)
|
|
|
NM_015662.3(IFT172):c.1718G>A (p.Gly573Asp)
|
|
|
NM_015662.3(IFT172):c.1720G>C (p.Gly574Arg)
|
|
|
NM_015662.3(IFT172):c.1732G>A (p.Glu578Lys)
|
|
|
NM_015662.3(IFT172):c.1794G>C (p.Glu598Asp)
|
rs147885790
|
|
NM_015662.3(IFT172):c.1807A>G (p.Ile603Val)
|
rs1442344603
|
|
NM_015662.3(IFT172):c.1816G>A (p.Gly606Ser)
|
rs745938799
|
|
NM_015662.3(IFT172):c.1823A>G (p.Tyr608Cys)
|
|
|
NM_015662.3(IFT172):c.1829+3G>A
|
rs751267637
|
|
NM_015662.3(IFT172):c.1838C>A (p.Ala613Asp)
|
|
|
NM_015662.3(IFT172):c.1849A>G (p.Thr617Ala)
|
rs1403737174
|
|
NM_015662.3(IFT172):c.1859T>G (p.Met620Arg)
|
|
|
NM_015662.3(IFT172):c.185A>G (p.Tyr62Cys)
|
rs2148559384
|
|
NM_015662.3(IFT172):c.1879A>G (p.Met627Val)
|
|
|
NM_015662.3(IFT172):c.1898A>G (p.Lys633Arg)
|
|
|
NM_015662.3(IFT172):c.1925A>C (p.His642Pro)
|
rs2148515313
|
|
NM_015662.3(IFT172):c.1931C>A (p.Ala644Glu)
|
rs371919234
|
|
NM_015662.3(IFT172):c.1931C>T (p.Ala644Val)
|
rs371919234
|
|
NM_015662.3(IFT172):c.1933G>C (p.Glu645Gln)
|
|
|
NM_015662.3(IFT172):c.1934A>T (p.Glu645Val)
|
|
|
NM_015662.3(IFT172):c.1937+5G>A
|
|
|
NM_015662.3(IFT172):c.1937+6G>A
|
rs1558388446
|
|
NM_015662.3(IFT172):c.195_196delinsTT (p.Lys65_Ser66delinsAsnCys)
|
rs2148559359
|
|
NM_015662.3(IFT172):c.1993G>A (p.Glu665Lys)
|
|
|
NM_015662.3(IFT172):c.1999G>A (p.Ala667Thr)
|
rs755632444
|
|
NM_015662.3(IFT172):c.2005C>G (p.Gln669Glu)
|
rs1666808431
|
|
NM_015662.3(IFT172):c.202A>G (p.Met68Val)
|
rs1007588478
|
|
NM_015662.3(IFT172):c.2047C>G (p.Gln683Glu)
|
|
|
NM_015662.3(IFT172):c.2049G>C (p.Gln683His)
|
rs780709991
|
|
NM_015662.3(IFT172):c.2054G>A (p.Arg685Gln)
|
rs561676433
|
|
NM_015662.3(IFT172):c.205G>A (p.Val69Met)
|
rs756299134
|
|
NM_015662.3(IFT172):c.2060G>A (p.Arg687His)
|
|
|
NM_015662.3(IFT172):c.2060G>T (p.Arg687Leu)
|
rs145601549
|
|
NM_015662.3(IFT172):c.2084A>G (p.Tyr695Cys)
|
rs1666775725
|
|
NM_015662.3(IFT172):c.2100G>T (p.Met700Ile)
|
|
|
NM_015662.3(IFT172):c.2129A>C (p.Glu710Ala)
|
|
|
NM_015662.3(IFT172):c.2148G>T (p.Gln716His)
|
|
|
NM_015662.3(IFT172):c.2159G>C (p.Arg720Pro)
|
rs202089120
|
|
NM_015662.3(IFT172):c.2193+5C>T
|
rs2148507369
|
|
NM_015662.3(IFT172):c.2193+6T>G
|
rs2148507360
|
|
NM_015662.3(IFT172):c.2197C>A (p.His733Asn)
|
rs774487712
|
|
NM_015662.3(IFT172):c.2210A>G (p.Glu737Gly)
|
|
|
NM_015662.3(IFT172):c.2234A>C (p.Gln745Pro)
|
rs765641043
|
|
NM_015662.3(IFT172):c.2236T>G (p.Trp746Gly)
|
|
|
NM_015662.3(IFT172):c.2261A>G (p.Glu754Gly)
|
|
|
NM_015662.3(IFT172):c.2264G>C (p.Arg755Pro)
|
rs78631901
|
|
NM_015662.3(IFT172):c.2294A>G (p.Asp765Gly)
|
|
|
NM_015662.3(IFT172):c.2309_2311dup (p.Ile770dup)
|
rs1239784714
|
|
NM_015662.3(IFT172):c.2310C>G (p.Ile770Met)
|
rs747166388
|
|
NM_015662.3(IFT172):c.2318A>G (p.Tyr773Cys)
|
|
|
NM_015662.3(IFT172):c.2339C>T (p.Ala780Val)
|
rs2148506384
|
|
NM_015662.3(IFT172):c.233C>T (p.Ser78Phe)
|
|
|
NM_015662.3(IFT172):c.2365C>G (p.Arg789Gly)
|
rs202024173
|
|
NM_015662.3(IFT172):c.2380G>C (p.Ala794Pro)
|
|
|
NM_015662.3(IFT172):c.2387C>G (p.Thr796Arg)
|
|
|
NM_015662.3(IFT172):c.2408C>T (p.Thr803Ile)
|
|
|
NM_015662.3(IFT172):c.2431C>A (p.Leu811Ile)
|
rs933347695
|
|
NM_015662.3(IFT172):c.2431C>G (p.Leu811Val)
|
rs933347695
|
|
NM_015662.3(IFT172):c.2435A>C (p.Tyr812Ser)
|
rs2148506110
|
|
NM_015662.3(IFT172):c.2442+5G>A
|
rs1666641444
|
|
NM_015662.3(IFT172):c.244G>T (p.Ala82Ser)
|
|
|
NM_015662.3(IFT172):c.2459A>T (p.Glu820Val)
|
rs1666622337
|
|
NM_015662.3(IFT172):c.2463G>T (p.Lys821Asn)
|
|
|
NM_015662.3(IFT172):c.2490G>C (p.Glu830Asp)
|
rs2148505488
|
|
NM_015662.3(IFT172):c.2497C>T (p.Arg833Cys)
|
|
|
NM_015662.3(IFT172):c.2503G>A (p.Gly835Ser)
|
rs1474467674
|
|
NM_015662.3(IFT172):c.2507A>T (p.Asn836Ile)
|
|
|
NM_015662.3(IFT172):c.2515A>C (p.Met839Leu)
|
|
|
NM_015662.3(IFT172):c.2523G>A (p.Ala841=)
|
|
|
NM_015662.3(IFT172):c.265A>G (p.Ile89Val)
|
|
|
NM_015662.3(IFT172):c.2660T>C (p.Ile887Thr)
|
rs761267426
|
|
NM_015662.3(IFT172):c.2665G>T (p.Ala889Ser)
|
|
|
NM_015662.3(IFT172):c.2672_2680del (p.Leu891_Ala893del)
|
rs1169567028
|
|
NM_015662.3(IFT172):c.2674G>A (p.Gly892Ser)
|
|
|
NM_015662.3(IFT172):c.2696C>T (p.Ala899Val)
|
rs1666451473
|
|
NM_015662.3(IFT172):c.2741A>G (p.Tyr914Cys)
|
rs2148501580
|
|
NM_015662.3(IFT172):c.2747C>T (p.Pro916Leu)
|
|
|
NM_015662.3(IFT172):c.274G>C (p.Val92Leu)
|
rs2148559132
|
|
NM_015662.3(IFT172):c.275T>C (p.Val92Ala)
|
rs1306568500
|
|
NM_015662.3(IFT172):c.2788-3C>G
|
rs2148500413
|
|
NM_015662.3(IFT172):c.2800_2811dup (p.Lys937_Gly938insLeuTyrThrLys)
|
|
|
NM_015662.3(IFT172):c.2806A>G (p.Thr936Ala)
|
|
|
NM_015662.3(IFT172):c.2809A>G (p.Lys937Glu)
|
rs1000172880
|
|
NM_015662.3(IFT172):c.2811G>T (p.Lys937Asn)
|
|
|
NM_015662.3(IFT172):c.281A>C (p.Lys94Thr)
|
rs1668654872
|
|
NM_015662.3(IFT172):c.2833A>G (p.Ile945Val)
|
rs1477777983
|
|
NM_015662.3(IFT172):c.2839A>G (p.Met947Val)
|
rs774401568
|
|
NM_015662.3(IFT172):c.2840T>C (p.Met947Thr)
|
|
|
NM_015662.3(IFT172):c.2845A>G (p.Thr949Ala)
|
rs1666396574
|
|
NM_015662.3(IFT172):c.2857C>G (p.Arg953Gly)
|
|
|
NM_015662.3(IFT172):c.2884A>G (p.Met962Val)
|
rs541501287
|
|
NM_015662.3(IFT172):c.2891G>A (p.Cys964Tyr)
|
|
|
NM_015662.3(IFT172):c.2905G>C (p.Asp969His)
|
rs1666329493
|
|
NM_015662.3(IFT172):c.2915T>A (p.Val972Glu)
|
rs2148498608
|
|
NM_015662.3(IFT172):c.2947A>G (p.Lys983Glu)
|
|
|
NM_015662.3(IFT172):c.2962C>T (p.Arg988Cys)
|
|
|
NM_015662.3(IFT172):c.2963G>A (p.Arg988His)
|
|
|
NM_015662.3(IFT172):c.2969C>A (p.Ala990Asp)
|
|
|
NM_015662.3(IFT172):c.297G>T (p.Trp99Cys)
|
rs2148557687
|
|
NM_015662.3(IFT172):c.2989G>A (p.Val997Ile)
|
|
|
NM_015662.3(IFT172):c.2994A>C (p.Gln998His)
|
|
|
NM_015662.3(IFT172):c.3001G>C (p.Asp1001His)
|
rs1666300541
|
|
NM_015662.3(IFT172):c.3023A>C (p.Lys1008Thr)
|
rs372047259
|
|
NM_015662.3(IFT172):c.3023A>G (p.Lys1008Arg)
|
|
|
NM_015662.3(IFT172):c.3044A>G (p.Asp1015Gly)
|
rs1666295604
|
|
NM_015662.3(IFT172):c.3071A>G (p.His1024Arg)
|
rs2148497488
|
|
NM_015662.3(IFT172):c.3112-19C>G
|
rs1666279699
|
|
NM_015662.3(IFT172):c.3112G>A (p.Glu1038Lys)
|
|
|
NM_015662.3(IFT172):c.3121G>A (p.Ala1041Thr)
|
|
|
NM_015662.3(IFT172):c.3144_3152del (p.Glu1049_His1051del)
|
rs2148496996
|
|
NM_015662.3(IFT172):c.3153C>G (p.His1051Gln)
|
rs1666273532
|
|
NM_015662.3(IFT172):c.3154T>C (p.Tyr1052His)
|
|
|
NM_015662.3(IFT172):c.3160G>C (p.Glu1054Gln)
|
rs763117647
|
|
NM_015662.3(IFT172):c.3166C>G (p.Gln1056Glu)
|
rs1666272023
|
|
NM_015662.3(IFT172):c.3181A>G (p.Thr1061Ala)
|
rs550525758
|
|
NM_015662.3(IFT172):c.3196C>G (p.Arg1066Gly)
|
rs148997142
|
|
NM_015662.3(IFT172):c.3202A>T (p.Ser1068Cys)
|
rs1666267648
|
|
NM_015662.3(IFT172):c.3205G>A (p.Gly1069Arg)
|
rs1666267219
|
|
NM_015662.3(IFT172):c.3250G>T (p.Ala1084Ser)
|
|
|
NM_015662.3(IFT172):c.3257C>T (p.Ala1086Val)
|
|
|
NM_015662.3(IFT172):c.325T>C (p.Phe109Leu)
|
rs542128061
|
|
NM_015662.3(IFT172):c.3267C>A (p.His1089Gln)
|
|
|
NM_015662.3(IFT172):c.3307G>T (p.Ala1103Ser)
|
|
|
NM_015662.3(IFT172):c.3313_3327del (p.Arg1105_Lys1109del)
|
rs2148494469
|
|
NM_015662.3(IFT172):c.332A>G (p.Gln111Arg)
|
|
|
NM_015662.3(IFT172):c.3341A>T (p.Glu1114Val)
|
|
|
NM_015662.3(IFT172):c.3379G>C (p.Glu1127Gln)
|
rs1158499870
|
|
NM_015662.3(IFT172):c.3401G>A (p.Arg1134Gln)
|
rs148624326
|
|
NM_015662.3(IFT172):c.340G>A (p.Ala114Thr)
|
rs2148556996
|
|
NM_015662.3(IFT172):c.3425C>T (p.Pro1142Leu)
|
|
|
NM_015662.3(IFT172):c.3448A>G (p.Met1150Val)
|
rs769882549
|
|
NM_015662.3(IFT172):c.3450G>A (p.Met1150Ile)
|
|
|
NM_015662.3(IFT172):c.3465G>C (p.Glu1155Asp)
|
rs935403723
|
|
NM_015662.3(IFT172):c.3466-11_3466-8del
|
rs773373497
|
|
NM_015662.3(IFT172):c.3466G>C (p.Gly1156Arg)
|
rs1665983486
|
|
NM_015662.3(IFT172):c.3475G>A (p.Glu1159Lys)
|
|
|
NM_015662.3(IFT172):c.3488C>T (p.Ala1163Val)
|
|
|
NM_015662.3(IFT172):c.3511C>G (p.Pro1171Ala)
|
rs747503760
|
|
NM_015662.3(IFT172):c.3520G>C (p.Ala1174Pro)
|
|
|
NM_015662.3(IFT172):c.3523G>A (p.Val1175Ile)
|
|
|
NM_015662.3(IFT172):c.3580C>G (p.His1194Asp)
|
rs764965204
|
|
NM_015662.3(IFT172):c.3586C>T (p.Pro1196Ser)
|
rs1665955306
|
|
NM_015662.3(IFT172):c.3590A>G (p.Asp1197Gly)
|
rs760796294
|
|
NM_015662.3(IFT172):c.3598G>A (p.Ala1200Thr)
|
rs377521375
|
|
NM_015662.3(IFT172):c.3604G>T (p.Val1202Leu)
|
|
|
NM_015662.3(IFT172):c.3607C>G (p.Leu1203Val)
|
rs2148488428
|
|
NM_015662.3(IFT172):c.3616C>G (p.Gln1206Glu)
|
rs1313893050
|
|
NM_015662.3(IFT172):c.3620C>T (p.Ala1207Val)
|
rs746530471
|
|
NM_015662.3(IFT172):c.3623G>A (p.Arg1208Gln)
|
rs758387302
|
|
NM_015662.3(IFT172):c.3623G>C (p.Arg1208Pro)
|
rs758387302
|
|
NM_015662.3(IFT172):c.362C>T (p.Pro121Leu)
|
rs765202929
|
|
NM_015662.3(IFT172):c.3632T>G (p.Leu1211Trp)
|
rs532669006
|
|
NM_015662.3(IFT172):c.3634G>A (p.Glu1212Lys)
|
rs764315033
|
|
NM_015662.3(IFT172):c.3637G>A (p.Glu1213Lys)
|
|
|
NM_015662.3(IFT172):c.3662G>C (p.Gly1221Ala)
|
rs1454157190
|
|
NM_015662.3(IFT172):c.3700A>C (p.Asn1234His)
|
rs746597294
|
|
NM_015662.3(IFT172):c.3701A>G (p.Asn1234Ser)
|
|
|
NM_015662.3(IFT172):c.3712G>A (p.Glu1238Lys)
|
|
|
NM_015662.3(IFT172):c.371A>T (p.Tyr124Phe)
|
|
|
NM_015662.3(IFT172):c.3728G>T (p.Ser1243Ile)
|
rs145507269
|
|
NM_015662.3(IFT172):c.3730G>A (p.Asp1244Asn)
|
|
|
NM_015662.3(IFT172):c.3761_3766del (p.Pro1254_Ser1255del)
|
rs763826196
|
|
NM_015662.3(IFT172):c.3791A>T (p.Tyr1264Phe)
|
|
|
NM_015662.3(IFT172):c.3793G>C (p.Glu1265Gln)
|
|
|
NM_015662.3(IFT172):c.3797G>A (p.Arg1266Gln)
|
|
|
NM_015662.3(IFT172):c.3811A>G (p.Lys1271Glu)
|
|
|
NM_015662.3(IFT172):c.3813G>T (p.Lys1271Asn)
|
|
|
NM_015662.3(IFT172):c.3821+5G>A
|
|
|
NM_015662.3(IFT172):c.3824G>A (p.Gly1275Asp)
|
|
|
NM_015662.3(IFT172):c.3824G>T (p.Gly1275Val)
|
rs543062539
|
|
NM_015662.3(IFT172):c.3844C>A (p.Gln1282Lys)
|
rs1665885295
|
|
NM_015662.3(IFT172):c.3855C>G (p.His1285Gln)
|
rs776343273
|
|
NM_015662.3(IFT172):c.3866C>A (p.Ala1289Asp)
|
rs768543764
|
|
NM_015662.3(IFT172):c.3871G>A (p.Glu1291Lys)
|
rs1665880862
|
|
NM_015662.3(IFT172):c.3902A>G (p.Lys1301Arg)
|
|
|
NM_015662.3(IFT172):c.3910G>T (p.Asp1304Tyr)
|
|
|
NM_015662.3(IFT172):c.3921C>G (p.Asn1307Lys)
|
rs377211687
|
|
NM_015662.3(IFT172):c.3925G>A (p.Gly1309Ser)
|
|
|
NM_015662.3(IFT172):c.3926G>A (p.Gly1309Asp)
|
|
|
NM_015662.3(IFT172):c.3951+2_3951+5dup
|
rs2148485951
|
|
NM_015662.3(IFT172):c.3987A>T (p.Gln1329His)
|
rs768705269
|
|
NM_015662.3(IFT172):c.3988C>A (p.Arg1330Ser)
|
rs768990688
|
|
NM_015662.3(IFT172):c.4039A>G (p.Lys1347Glu)
|
|
|
NM_015662.3(IFT172):c.4046G>C (p.Ser1349Thr)
|
rs762984875
|
|
NM_015662.3(IFT172):c.4050+2dup
|
rs2148478879
|
|
NM_015662.3(IFT172):c.4117G>A (p.Glu1373Lys)
|
|
|
NM_015662.3(IFT172):c.4135C>T (p.Arg1379Cys)
|
|
|
NM_015662.3(IFT172):c.4161-11C>T
|
|
|
NM_015662.3(IFT172):c.4163A>G (p.Tyr1388Cys)
|
|
|
NM_015662.3(IFT172):c.4177G>A (p.Asp1393Asn)
|
|
|
NM_015662.3(IFT172):c.4179C>G (p.Asp1393Glu)
|
|
|
NM_015662.3(IFT172):c.4185T>G (p.His1395Gln)
|
rs148360112
|
|
NM_015662.3(IFT172):c.4197C>A (p.Phe1399Leu)
|
|
|
NM_015662.3(IFT172):c.4208A>G (p.Gln1403Arg)
|
rs1665458761
|
|
NM_015662.3(IFT172):c.4214A>G (p.Lys1405Arg)
|
|
|
NM_015662.3(IFT172):c.4264G>C (p.Val1422Leu)
|
|
|
NM_015662.3(IFT172):c.4279T>C (p.Trp1427Arg)
|
rs1665443434
|
|
NM_015662.3(IFT172):c.4282G>A (p.Asp1428Asn)
|
rs1665443007
|
|
NM_015662.3(IFT172):c.4288T>G (p.Cys1430Gly)
|
|
|
NM_015662.3(IFT172):c.429T>G (p.Asn143Lys)
|
|
|
NM_015662.3(IFT172):c.4300G>C (p.Ala1434Pro)
|
rs1465201525
|
|
NM_015662.3(IFT172):c.4307A>G (p.Lys1436Arg)
|
rs377646246
|
|
NM_015662.3(IFT172):c.4311+4C>T
|
|
|
NM_015662.3(IFT172):c.4311+6G>T
|
rs1210994251
|
|
NM_015662.3(IFT172):c.4319A>G (p.Lys1440Arg)
|
|
|
NM_015662.3(IFT172):c.4346A>G (p.Tyr1449Cys)
|
|
|
NM_015662.3(IFT172):c.4387T>A (p.Leu1463Met)
|
|
|
NM_015662.3(IFT172):c.4412C>A (p.Ala1471Asp)
|
rs1219587063
|
|
NM_015662.3(IFT172):c.4459G>A (p.Asp1487Asn)
|
rs371807689
|
|
NM_015662.3(IFT172):c.4464G>A (p.Met1488Ile)
|
|
|
NM_015662.3(IFT172):c.4487G>A (p.Cys1496Tyr)
|
rs149435148
|
|
NM_015662.3(IFT172):c.4487G>T (p.Cys1496Phe)
|
rs149435148
|
|
NM_015662.3(IFT172):c.44G>T (p.Gly15Val)
|
rs1572838053
|
|
NM_015662.3(IFT172):c.4504A>T (p.Ser1502Cys)
|
|
|
NM_015662.3(IFT172):c.4507T>C (p.Trp1503Arg)
|
rs1665288911
|
|
NM_015662.3(IFT172):c.4576C>G (p.Pro1526Ala)
|
|
|
NM_015662.3(IFT172):c.4577C>T (p.Pro1526Leu)
|
|
|
NM_015662.3(IFT172):c.4631G>A (p.Arg1544His)
|
|
|
NM_015662.3(IFT172):c.463G>A (p.Val155Met)
|
rs149969430
|
|
NM_015662.3(IFT172):c.463G>C (p.Val155Leu)
|
rs149969430
|
|
NM_015662.3(IFT172):c.4648G>A (p.Val1550Ile)
|
rs779801761
|
|
NM_015662.3(IFT172):c.4656G>T (p.Gln1552His)
|
rs530107456
|
|
NM_015662.3(IFT172):c.466G>T (p.Val156Leu)
|
rs1401986067
|
|
NM_015662.3(IFT172):c.4676G>A (p.Arg1559Lys)
|
|
|
NM_015662.3(IFT172):c.4697G>A (p.Arg1566His)
|
|
|
NM_015662.3(IFT172):c.4703C>T (p.Thr1568Ile)
|
|
|
NM_015662.3(IFT172):c.4760T>C (p.Val1587Ala)
|
rs1483735124
|
|
NM_015662.3(IFT172):c.4773C>G (p.Asn1591Lys)
|
rs770759155
|
|
NM_015662.3(IFT172):c.4776G>A (p.Met1592Ile)
|
rs1042644207
|
|
NM_015662.3(IFT172):c.4780T>C (p.Phe1594Leu)
|
|
|
NM_015662.3(IFT172):c.4874T>G (p.Ile1625Ser)
|
|
|
NM_015662.3(IFT172):c.4876_4878dup (p.Pro1626_Phe1627insPro)
|
rs1437853998
|
|
NM_015662.3(IFT172):c.4891C>T (p.Leu1631Phe)
|
|
|
NM_015662.3(IFT172):c.4912C>T (p.Pro1638Ser)
|
|
|
NM_015662.3(IFT172):c.4932_4940del (p.Glu1644_Arg1646del)
|
rs1664979213
|
|
NM_015662.3(IFT172):c.4944G>C (p.Trp1648Cys)
|
rs1664978966
|
|
NM_015662.3(IFT172):c.495A>G (p.Lys165=)
|
rs1202101296
|
|
NM_015662.3(IFT172):c.4960A>G (p.Met1654Val)
|
rs529850410
|
|
NM_015662.3(IFT172):c.4988C>T (p.Pro1663Leu)
|
rs1357445568
|
|
NM_015662.3(IFT172):c.4998G>T (p.Glu1666Asp)
|
rs2148465651
|
|
NM_015662.3(IFT172):c.5015C>G (p.Ala1672Gly)
|
rs2148465580
|
|
NM_015662.3(IFT172):c.5018C>T (p.Ser1673Phe)
|
|
|
NM_015662.3(IFT172):c.5036C>G (p.Thr1679Ser)
|
rs2148465499
|
|
NM_015662.3(IFT172):c.5041G>A (p.Val1681Ile)
|
rs763335302
|
|
NM_015662.3(IFT172):c.5044C>G (p.Arg1682Gly)
|
|
|
NM_015662.3(IFT172):c.5068+3A>G
|
rs1664957671
|
|
NM_015662.3(IFT172):c.5080C>G (p.Leu1694Val)
|
|
|
NM_015662.3(IFT172):c.5093T>C (p.Ile1698Thr)
|
|
|
NM_015662.3(IFT172):c.509G>T (p.Gly170Val)
|
rs770113267
|
|
NM_015662.3(IFT172):c.5105G>A (p.Arg1702Gln)
|
|
|
NM_015662.3(IFT172):c.5116G>A (p.Ala1706Thr)
|
|
|
NM_015662.3(IFT172):c.5120C>T (p.Ala1707Val)
|
|
|
NM_015662.3(IFT172):c.5159A>G (p.Lys1720Arg)
|
rs755256585
|
|
NM_015662.3(IFT172):c.5160+6A>G
|
rs2148464534
|
|
NM_015662.3(IFT172):c.5170A>G (p.Ser1724Gly)
|
rs148800421
|
|
NM_015662.3(IFT172):c.518A>G (p.Asp173Gly)
|
|
|
NM_015662.3(IFT172):c.5204G>A (p.Ser1735Asn)
|
|
|
NM_015662.3(IFT172):c.5207_5209del (p.Gln1736_Trp1737delinsArg)
|
rs2148462684
|
|
NM_015662.3(IFT172):c.5212T>G (p.Cys1738Gly)
|
rs1664849569
|
|
NM_015662.3(IFT172):c.5228G>C (p.Ser1743Thr)
|
rs2148462622
|
|
NM_015662.3(IFT172):c.5245C>G (p.Gln1749Glu)
|
rs2148462534
|
|
NM_015662.3(IFT172):c.534G>C (p.Arg178Ser)
|
|
|
NM_015662.3(IFT172):c.570+3A>G
|
|
|
NM_015662.3(IFT172):c.571-3T>A
|
|
|
NM_015662.3(IFT172):c.571-3T>C
|
|
|
NM_015662.3(IFT172):c.589C>T (p.Pro197Ser)
|
rs267599319
|
|
NM_015662.3(IFT172):c.5A>G (p.His2Arg)
|
|
|
NM_015662.3(IFT172):c.616G>A (p.Ala206Thr)
|
|
|
NM_015662.3(IFT172):c.619A>G (p.Thr207Ala)
|
|
|
NM_015662.3(IFT172):c.622A>G (p.Asn208Asp)
|
rs909930223
|
|
NM_015662.3(IFT172):c.663C>G (p.Ala221=)
|
rs2148550253
|
|
NM_015662.3(IFT172):c.682A>C (p.Met228Leu)
|
|
|
NM_015662.3(IFT172):c.702T>C (p.Tyr234=)
|
|
|
NM_015662.3(IFT172):c.706C>G (p.Arg236Gly)
|
rs146290725
|
|
NM_015662.3(IFT172):c.722G>A (p.Arg241Gln)
|
|
|
NM_015662.3(IFT172):c.748C>G (p.Pro250Ala)
|
rs1013134780
|
|
NM_015662.3(IFT172):c.763G>A (p.Val255Ile)
|
rs2148549986
|
|
NM_015662.3(IFT172):c.786-2A>T
|
|
|
NM_015662.3(IFT172):c.786-6T>G
|
|
|
NM_015662.3(IFT172):c.78G>T (p.Gln26His)
|
|
|
NM_015662.3(IFT172):c.800A>G (p.Asn267Ser)
|
|
|
NM_015662.3(IFT172):c.839C>G (p.Pro280Arg)
|
rs1279126964
|
|
NM_015662.3(IFT172):c.854A>G (p.Asn285Ser)
|
rs975683128
|
|
NM_015662.3(IFT172):c.887G>A (p.Arg296Gln)
|
|
|
NM_015662.3(IFT172):c.909+11A>G
|
|
|
NM_015662.3(IFT172):c.909+3G>A
|
rs2148547848
|
|
NM_015662.3(IFT172):c.911G>A (p.Gly304Asp)
|
rs1553335843
|
|
NM_015662.3(IFT172):c.926G>A (p.Gly309Glu)
|
rs749612277
|
|
NM_015662.3(IFT172):c.956G>A (p.Arg319Lys)
|
rs1002834084
|
|
NM_015662.3(IFT172):c.963T>G (p.Ile321Met)
|
|
|
NM_015662.3(IFT172):c.972C>A (p.Asn324Lys)
|
rs370874046
|
|
NM_015662.3(IFT172):c.97G>C (p.Val33Leu)
|
rs2148559931
|
|
NM_015700.3(NFU1):c.-312_-311GC[1]
|
rs777119948
|
|
NM_015702.3(MMADHC):c.-136G>C
|
rs1682898571
|
|
NM_015702.3(MMADHC):c.-52-3C>G
|
rs886054922
|
|
NM_015702.3(MMADHC):c.-62G>A
|
rs886054924
|
|
NM_015702.3(MMADHC):c.10-3T>C
|
rs886054921
|
|
NM_015702.3(MMADHC):c.113G>T (p.Gly38Val)
|
|
|
NM_015702.3(MMADHC):c.136G>C (p.Ala46Pro)
|
rs749521854
|
|
NM_015702.3(MMADHC):c.149A>G (p.Asp50Gly)
|
|
|
NM_015702.3(MMADHC):c.166G>A (p.Val56Met)
|
rs1682767724
|
|
NM_015702.3(MMADHC):c.172C>G (p.Pro58Ala)
|
|
|
NM_015702.3(MMADHC):c.184A>G (p.Met62Val)
|
|
|
NM_015702.3(MMADHC):c.196G>A (p.Gly66Arg)
|
rs1334273037
|
|
NM_015702.3(MMADHC):c.245G>A (p.Cys82Tyr)
|
|
|
NM_015702.3(MMADHC):c.299C>T (p.Pro100Leu)
|
|
|
NM_015702.3(MMADHC):c.311C>T (p.Ala104Val)
|
rs533388008
|
|
NM_015702.3(MMADHC):c.362A>G (p.Asn121Ser)
|
|
|
NM_015702.3(MMADHC):c.373-5C>A
|
|
|
NM_015702.3(MMADHC):c.440A>T (p.Glu147Val)
|
rs768142805
|
|
NM_015702.3(MMADHC):c.461C>G (p.Pro154Arg)
|
rs1226772166
|
|
NM_015702.3(MMADHC):c.481T>A (p.Phe161Ile)
|
|
|
NM_015702.3(MMADHC):c.562G>A (p.Val188Ile)
|
|
|
NM_015702.3(MMADHC):c.572AAG[1] (p.Glu192del)
|
|
|
NM_015702.3(MMADHC):c.607A>G (p.Lys203Glu)
|
rs1553453961
|
|
NM_015702.3(MMADHC):c.609+6T>C
|
rs1682704400
|
|
NM_015702.3(MMADHC):c.699T>C (p.Phe233=)
|
rs1682618008
|
|
NM_015702.3(MMADHC):c.724C>G (p.Leu242Val)
|
|
|
NM_015702.3(MMADHC):c.735T>G (p.Thr245=)
|
rs530553915
|
|
NM_015702.3(MMADHC):c.737A>G (p.Asp246Gly)
|
rs1408840913
|
|
NM_015702.3(MMADHC):c.73G>C (p.Val25Leu)
|
rs549522925
|
|
NM_015702.3(MMADHC):c.73G>T (p.Val25Phe)
|
rs549522925
|
|
NM_015702.3(MMADHC):c.759A>T (p.Gly253=)
|
rs886054920
|
|
NM_015702.3(MMADHC):c.764C>G (p.Ser255Cys)
|
rs773493767
|
|
NM_015702.3(MMADHC):c.764_765del (p.Ser255fs)
|
rs2105041468
|
|
NM_015702.3(MMADHC):c.766G>C (p.Val256Leu)
|
|
|
NM_015702.3(MMADHC):c.787A>T (p.Lys263Ter)
|
|
|
NM_015702.3(MMADHC):c.808T>C (p.Trp270Arg)
|
rs2105041421
|
|
NM_015702.3(MMADHC):c.835A>G (p.Ile279Val)
|
|
|
NM_015702.3(MMADHC):c.857A>C (p.Asp286Ala)
|
|
|
NM_015702.3(MMADHC):c.869T>G (p.Met290Arg)
|
rs1401528755
|
|
NM_016011.4(MECR):c.-39G>C
|
rs749435497
|
|
NM_016011.5(MECR):c.161C>T (p.Pro54Leu)
|
rs1683215661
|
|
NM_016247.4(IMPG2):c.*1447C>T
|
rs886057675
|
|
NM_016247.4(IMPG2):c.*1551G>A
|
rs74871601
|
|
NM_016247.4(IMPG2):c.*1554C>T
|
rs73156011
|
|
NM_016247.4(IMPG2):c.*1719A>G
|
rs1706207757
|
|
NM_016247.4(IMPG2):c.*2174C>T
|
rs973772805
|
|
NM_016247.4(IMPG2):c.*2332T>C
|
rs144532789
|
|
NM_016247.4(IMPG2):c.*2435T>C
|
rs772636319
|
|
NM_016247.4(IMPG2):c.*2612T>A
|
rs886057671
|
|
NM_016247.4(IMPG2):c.*2790G>T
|
rs886057670
|
|
NM_016247.4(IMPG2):c.*2838G>C
|
rs1304041280
|
|
NM_016247.4(IMPG2):c.*3103G>T
|
rs566200595
|
|
NM_016247.4(IMPG2):c.*3599A>G
|
rs886057668
|
|
NM_016247.4(IMPG2):c.*3619C>A
|
rs886057667
|
|
NM_016247.4(IMPG2):c.*3624T>G
|
rs1706185575
|
|
NM_016247.4(IMPG2):c.*3658C>T
|
rs1706185172
|
|
NM_016247.4(IMPG2):c.*368G>A
|
rs568108242
|
|
NM_016247.4(IMPG2):c.*4108G>C
|
rs886057664
|
|
NM_016247.4(IMPG2):c.*4143A>G
|
rs938158679
|
|
NM_016247.4(IMPG2):c.*563G>T
|
rs1576740618
|
|
NM_016247.4(IMPG2):c.*569G>C
|
rs1381026736
|
|
NM_016247.4(IMPG2):c.*874T>C
|
rs1706218494
|
|
NM_016247.4(IMPG2):c.*898T>G
|
rs1706218125
|
|
NM_016247.4(IMPG2):c.*944A>G
|
rs1706217782
|
|
NM_016247.4(IMPG2):c.1187T>C (p.Leu396Pro)
|
rs773850021
|
|
NM_016247.4(IMPG2):c.1319G>A (p.Gly440Asp)
|
rs886057688
|
|
NM_016247.4(IMPG2):c.1578_1581del (p.Ser527fs)
|
rs1559643320
|
|
NM_016247.4(IMPG2):c.1579T>G (p.Ser527Ala)
|
rs1706457755
|
|
NM_016247.4(IMPG2):c.1763A>C (p.Asp588Ala)
|
rs746692897
|
|
NM_016247.4(IMPG2):c.2028T>G (p.Phe676Leu)
|
rs780140167
|
|
NM_016247.4(IMPG2):c.2524C>A (p.Leu842Met)
|
rs149896250
|
|
NM_016247.4(IMPG2):c.2771A>G (p.Tyr924Cys)
|
|
|
NM_016247.4(IMPG2):c.2887A>G (p.Ser963Gly)
|
rs941586075
|
|
NM_016247.4(IMPG2):c.3113G>T (p.Cys1038Phe)
|
rs1706305751
|
|
NM_016247.4(IMPG2):c.3126C>T (p.Tyr1042=)
|
rs1229588861
|
|
NM_016247.4(IMPG2):c.3400A>G (p.Ser1134Gly)
|
rs765312212
|
|
NM_016247.4(IMPG2):c.34C>G (p.Leu12Val)
|
rs886057689
|
|
NM_016247.4(IMPG2):c.3633+1G>A
|
rs886057685
|
|
NM_016247.4(IMPG2):c.452T>A (p.Met151Lys)
|
|
|
NM_016247.4(IMPG2):c.586A>G (p.Thr196Ala)
|
rs1463411745
|
|
NM_016247.4(IMPG2):c.874G>A (p.Val292Ile)
|
rs1706755411
|
|
NM_016247.4(IMPG2):c.937T>C (p.Phe313Leu)
|
rs1186127121
|
|
NM_016247.4(IMPG2):c.989C>G (p.Ser330Cys)
|
rs1706626237
|
|
NM_016335.6(PRODH):c.1003A>G (p.Asn335Asp)
|
rs1044791075
|
|
NM_016335.6(PRODH):c.1012-3C>T
|
rs371062452
|
|
NM_016335.6(PRODH):c.1036T>G (p.Ser346Ala)
|
rs2081951548
|
|
NM_016335.6(PRODH):c.1049A>G (p.Glu350Gly)
|
|
|
NM_016335.6(PRODH):c.106G>A (p.Ala36Thr)
|
|
|
NM_016335.6(PRODH):c.1085G>A (p.Arg362Gln)
|
|
|
NM_016335.6(PRODH):c.1091A>G (p.Asp364Gly)
|
rs1057524390
|
|
NM_016335.6(PRODH):c.1133T>A (p.Met378Lys)
|
rs752953633
|
|
NM_016335.6(PRODH):c.1163C>T (p.Pro388Leu)
|
rs147233639
|
|
NM_016335.6(PRODH):c.118G>C (p.Gly40Arg)
|
rs780423887
|
|
NM_016335.6(PRODH):c.1190T>G (p.Met397Arg)
|
|
|
NM_016335.6(PRODH):c.1238A>C (p.Gln413Pro)
|
|
|
NM_016335.6(PRODH):c.1251+6C>T
|
|
|
NM_016335.6(PRODH):c.1278C>A (p.Asp426Glu)
|
|
|
NM_016335.6(PRODH):c.128C>T (p.Ala43Val)
|
|
|
NM_016335.6(PRODH):c.1301G>A (p.Gly434Asp)
|
|
|
NM_016335.6(PRODH):c.130_156del (p.Thr44_Ala52del)
|
rs949036081
|
|
NM_016335.6(PRODH):c.1310T>C (p.Phe437Ser)
|
|
|
NM_016335.6(PRODH):c.1328G>A (p.Arg443Gln)
|
|
|
NM_016335.6(PRODH):c.1350G>T (p.Glu450Asp)
|
|
|
NM_016335.6(PRODH):c.1362_1363delinsAT (p.Ala455Ser)
|
rs2081943034
|
|
NM_016335.6(PRODH):c.1373G>A (p.Gly458Asp)
|
|
|
NM_016335.6(PRODH):c.1390A>C (p.Asn464His)
|
rs2146209436
|
|
NM_016335.6(PRODH):c.1397C>A (p.Thr466Lys)
|
rs2870984
|
|
NM_016335.6(PRODH):c.1402G>A (p.Glu468Lys)
|
rs372618210
|
|
NM_016335.6(PRODH):c.1418T>C (p.Met473Thr)
|
rs1555890224
|
|
NM_016335.6(PRODH):c.1427+4C>T
|
|
|
NM_016335.6(PRODH):c.1471G>T (p.Ala491Ser)
|
rs1241975657
|
|
NM_016335.6(PRODH):c.1497T>A (p.Asn499Lys)
|
|
|
NM_016335.6(PRODH):c.1515_1516inv (p.Ala506Thr)
|
|
|
NM_016335.6(PRODH):c.151C>T (p.Pro51Ser)
|
|
|
NM_016335.6(PRODH):c.1527-3C>T
|
rs2146205858
|
|
NM_016335.6(PRODH):c.152C>T (p.Pro51Leu)
|
|
|
NM_016335.6(PRODH):c.1531G>A (p.Glu511Lys)
|
|
|
NM_016335.6(PRODH):c.1544T>G (p.Leu515Arg)
|
|
|
NM_016335.6(PRODH):c.1558C>T (p.His520Tyr)
|
|
|
NM_016335.6(PRODH):c.1576C>T (p.Gln526Ter)
|
rs372187772
|
|
NM_016335.6(PRODH):c.1612C>A (p.Leu538Met)
|
|
|
NM_016335.6(PRODH):c.1633G>A (p.Val545Met)
|
|
|
NM_016335.6(PRODH):c.1660G>A (p.Val554Met)
|
|
|
NM_016335.6(PRODH):c.1748G>T (p.Trp583Leu)
|
|
|
NM_016335.6(PRODH):c.1772G>A (p.Arg591Gln)
|
rs779412444
|
|
NM_016335.6(PRODH):c.1786T>C (p.Phe596Leu)
|
|
|
NM_016335.6(PRODH):c.1791T>G (p.His597Gln)
|
|
|
NM_016335.6(PRODH):c.1792C>T (p.Arg598Cys)
|
|
|
NM_016335.6(PRODH):c.1793G>A (p.Arg598His)
|
|
|
NM_016335.6(PRODH):c.1803G>A (p.Ter601=)
|
rs1183388799
|
|
NM_016335.6(PRODH):c.187C>T (p.Arg63Cys)
|
|
|
NM_016335.6(PRODH):c.193C>T (p.Arg65Trp)
|
|
|
NM_016335.6(PRODH):c.1A>G (p.Met1Val)
|
rs1036292619
|
|
NM_016335.6(PRODH):c.223C>A (p.Leu75Met)
|
rs1391433654
|
|
NM_016335.6(PRODH):c.22C>T (p.Pro8Ser)
|
rs944412642
|
|
NM_016335.6(PRODH):c.237G>C (p.Leu79Phe)
|
rs2008733
|
|
NM_016335.6(PRODH):c.268G>A (p.Glu90Lys)
|
rs1023813331
|
|
NM_016335.6(PRODH):c.273G>A (p.Gln91=)
|
rs2146223897
|
|
NM_016335.6(PRODH):c.296T>G (p.Leu99Arg)
|
|
|
NM_016335.6(PRODH):c.298C>G (p.Leu100Val)
|
|
|
NM_016335.6(PRODH):c.305A>G (p.Gln102Arg)
|
|
|
NM_016335.6(PRODH):c.309G>T (p.Arg103Ser)
|
|
|
NM_016335.6(PRODH):c.350T>C (p.Phe117Ser)
|
|
|
NM_016335.6(PRODH):c.358G>A (p.Gly120Arg)
|
rs979499476
|
|
NM_016335.6(PRODH):c.383C>T (p.Pro128Leu)
|
rs2146219914
|
|
NM_016335.6(PRODH):c.418G>A (p.Ala140Thr)
|
|
|
NM_016335.6(PRODH):c.41T>C (p.Ile14Thr)
|
|
|
NM_016335.6(PRODH):c.427G>T (p.Asp143Tyr)
|
|
|
NM_016335.6(PRODH):c.482+6G>A
|
rs571651683
|
|
NM_016335.6(PRODH):c.485C>A (p.Ser162Tyr)
|
|
|
NM_016335.6(PRODH):c.531_532delinsTA (p.Asp178Asn)
|
|
|
NM_016335.6(PRODH):c.583A>G (p.Ile195Val)
|
|
|
NM_016335.6(PRODH):c.593G>T (p.Arg198Leu)
|
|
|
NM_016335.6(PRODH):c.610A>G (p.Asn204Asp)
|
|
|
NM_016335.6(PRODH):c.611A>G (p.Asn204Ser)
|
|
|
NM_016335.6(PRODH):c.649C>T (p.Arg217Cys)
|
|
|
NM_016335.6(PRODH):c.679G>A (p.Asp227Asn)
|
|
|
NM_016335.6(PRODH):c.697A>C (p.Ile233Leu)
|
|
|
NM_016335.6(PRODH):c.721C>T (p.Pro241Ser)
|
|
|
NM_016335.6(PRODH):c.733C>T (p.Leu245=)
|
|
|
NM_016335.6(PRODH):c.767G>T (p.Cys256Phe)
|
|
|
NM_016335.6(PRODH):c.803C>T (p.Ala268Val)
|
rs375358521
|
|
NM_016335.6(PRODH):c.829C>A (p.Leu277Met)
|
rs143408578
|
|
NM_016335.6(PRODH):c.850-10A>G
|
|
|
NM_016335.6(PRODH):c.880A>G (p.Arg294Gly)
|
rs2081960374
|
|
NM_016335.6(PRODH):c.925T>C (p.Ser309Pro)
|
|
|
NM_016335.6(PRODH):c.929+3G>A
|
|
|
NM_016335.6(PRODH):c.92C>T (p.Ala31Val)
|
|
|
NM_016335.6(PRODH):c.933_934inv (p.Met312Val)
|
|
|
NM_016335.6(PRODH):c.934A>G (p.Met312Val)
|
|
|
NM_016335.6(PRODH):c.964G>A (p.Asp322Asn)
|
|
|
NM_016373.4(WWOX):c.*15G>T
|
rs533890923
|
|
NM_016373.4(WWOX):c.1204G>T (p.Glu402Ter)
|
rs200839945
|
|
NM_016373.4(WWOX):c.1223G>A (p.Arg408Gln)
|
rs765857107
|
|
NM_016373.4(WWOX):c.1223G>T (p.Arg408Leu)
|
rs765857107
|
|
NM_016373.4(WWOX):c.16T>C (p.Tyr6His)
|
rs1239497096
|
|
NM_016373.4(WWOX):c.172+5G>A
|
|
|
NM_016373.4(WWOX):c.341T>C (p.Met114Thr)
|
rs761906386
|
|
NM_016373.4(WWOX):c.410G>T (p.Gly137Val)
|
rs761879076
|
|
NM_016373.4(WWOX):c.461C>A (p.Ala154Asp)
|
|
|
NM_016373.4(WWOX):c.517C>T (p.His173Tyr)
|
rs777272586
|
|
NM_016373.4(WWOX):c.535G>T (p.Ala179Ser)
|
rs11545029
|
|
NM_016373.4(WWOX):c.562C>A (p.Arg188Ser)
|
rs199511589
|
|
NM_016373.4(WWOX):c.562C>T (p.Arg188Cys)
|
rs199511589
|
|
NM_016373.4(WWOX):c.716T>G (p.Leu239Arg)
|
rs2083042603
|
|
NM_016373.4(WWOX):c.791+18A>T
|
rs1023123497
|
|
NM_016417.3(GLRX5):c.115G>A (p.Gly39Ser)
|
|
|
NM_016579.4(CD320):c.11G>C (p.Gly4Ala)
|
rs2232774
|
|
NM_016579.4(CD320):c.139G>C (p.Ala47Pro)
|
|
|
NM_016579.4(CD320):c.142+4A>G
|
|
|
NM_016579.4(CD320):c.166C>T (p.Pro56Ser)
|
|
|
NM_016579.4(CD320):c.167C>T (p.Pro56Leu)
|
rs1329946054
|
|
NM_016579.4(CD320):c.168_171del (p.Thr57fs)
|
|
|
NM_016579.4(CD320):c.178C>T (p.Gln60Ter)
|
rs1281977713
|
|
NM_016579.4(CD320):c.179A>T (p.Gln60Leu)
|
|
|
NM_016579.4(CD320):c.195_223del (p.Leu66fs)
|
|
|
NM_016579.4(CD320):c.229G>A (p.Asp77Asn)
|
|
|
NM_016579.4(CD320):c.242G>A (p.Ser81Asn)
|
|
|
NM_016579.4(CD320):c.245A>T (p.Asp82Val)
|
|
|
NM_016579.4(CD320):c.256GAG[2] (p.Glu88del)
|
rs150384171
|
|
NM_016579.4(CD320):c.268+4A>C
|
|
|
NM_016579.4(CD320):c.302C>G (p.Pro101Arg)
|
|
|
NM_016579.4(CD320):c.305C>T (p.Pro102Leu)
|
rs767897892
|
|
NM_016579.4(CD320):c.314G>T (p.Gly105Val)
|
|
|
NM_016579.4(CD320):c.32C>T (p.Ala11Val)
|
rs567898376
|
|
NM_016579.4(CD320):c.337G>A (p.Val113Ile)
|
|
|
NM_016579.4(CD320):c.350C>T (p.Ser117Phe)
|
|
|
NM_016579.4(CD320):c.356G>T (p.Gly119Val)
|
|
|
NM_016579.4(CD320):c.386G>T (p.Arg129Leu)
|
rs139064611
|
|
NM_016579.4(CD320):c.412C>A (p.Arg138Ser)
|
rs201166605
|
|
NM_016579.4(CD320):c.427G>A (p.Asp143Asn)
|
|
|
NM_016579.4(CD320):c.451C>T (p.Arg151Cys)
|
rs769150463
|
|
NM_016579.4(CD320):c.487G>A (p.Asp163Asn)
|
|
|
NM_016579.4(CD320):c.502+3A>G
|
|
|
NM_016579.4(CD320):c.502G>A (p.Gly168Arg)
|
|
|
NM_016579.4(CD320):c.506C>T (p.Thr169Ile)
|
|
|
NM_016579.4(CD320):c.509A>G (p.Asn170Ser)
|
|
|
NM_016579.4(CD320):c.521C>T (p.Pro174Leu)
|
|
|
NM_016579.4(CD320):c.551C>T (p.Pro184Leu)
|
|
|
NM_016579.4(CD320):c.571_624del (p.Thr191_Val208del)
|
|
|
NM_016579.4(CD320):c.571_624dup (p.Val208_Pro209insThrSerLeuArgAsnAlaThrThrMetGlyProProValThrLeuGluSerVal)
|
|
|
NM_016579.4(CD320):c.599G>T (p.Gly200Val)
|
|
|
NM_016579.4(CD320):c.60GCT[7] (p.Leu24_Leu25dup)
|
rs750768529
|
|
NM_016579.4(CD320):c.622_624del (p.Val208del)
|
|
|
NM_016579.4(CD320):c.634G>A (p.Gly212Arg)
|
|
|
NM_016579.4(CD320):c.634G>T (p.Gly212Trp)
|
rs550390075
|
|
NM_016579.4(CD320):c.679A>G (p.Thr227Ala)
|
rs766740010
|
|
NM_016579.4(CD320):c.685T>C (p.Tyr229His)
|
|
|
NM_016579.4(CD320):c.708G>A (p.Ala236=)
|
rs768870573
|
|
NM_016579.4(CD320):c.760C>A (p.Arg254=)
|
rs750760449
|
|
NM_016579.4(CD320):c.76G>A (p.Gly26Ser)
|
|
|
NM_016579.4(CD320):c.800C>T (p.Ala267Val)
|
|
|
NM_016579.4(CD320):c.839C>T (p.Ser280Leu)
|
|
|
NM_016579.4(CD320):c.96G>C (p.Glu32Asp)
|
|
|
NM_017739.4(POMGNT1):c.*457C>T
|
rs1657513729
|
|
NM_017739.4(POMGNT1):c.1017CTA[1] (p.Tyr341del)
|
rs2148194204
|
|
NM_017739.4(POMGNT1):c.1117A>C (p.Lys373Gln)
|
rs752591703
|
|
NM_017739.4(POMGNT1):c.1456C>G (p.Arg486Gly)
|
rs534543454
|
|
NM_017739.4(POMGNT1):c.1462C>G (p.Arg488Gly)
|
rs727504103
|
|
NM_017739.4(POMGNT1):c.1489C>G (p.Arg497Gly)
|
|
|
NM_017739.4(POMGNT1):c.1502T>C (p.Phe501Ser)
|
rs727502852
|
|
NM_017739.4(POMGNT1):c.1681C>T (p.Pro561Ser)
|
rs2148167563
|
|
NM_017739.4(POMGNT1):c.1838G>A (p.Arg613Lys)
|
|
|
NM_017739.4(POMGNT1):c.188G>C (p.Arg63Pro)
|
rs141421141
|
|
NM_017739.4(POMGNT1):c.226C>A (p.Gln76Lys)
|
rs972657462
|
|
NM_017739.4(POMGNT1):c.512G>A (p.Arg171Gln)
|
rs1046275062
|
|
NM_017739.4(POMGNT1):c.722A>G (p.Lys241Arg)
|
rs2148202208
|
|
NM_018233.4(OGFOD1):c.1467+11_1467+13del
|
|
|
NM_018255.4(ELP2):c.1321C>G (p.Leu441Val)
|
rs2090578313
|
|
NM_018368.4(LMBRD1):c.*220G>T
|
rs1765534415
|
|
NM_018368.4(LMBRD1):c.*77G>T
|
rs886061690
|
|
NM_018368.4(LMBRD1):c.-57T>C
|
rs886061693
|
|
NM_018368.4(LMBRD1):c.100C>G (p.Arg34Gly)
|
rs773844453
|
|
NM_018368.4(LMBRD1):c.1025T>C (p.Ile342Thr)
|
rs2149844901
|
|
NM_018368.4(LMBRD1):c.1067T>C (p.Leu356Ser)
|
rs1766127830
|
|
NM_018368.4(LMBRD1):c.1109T>C (p.Ile370Thr)
|
|
|
NM_018368.4(LMBRD1):c.1136T>A (p.Phe379Tyr)
|
rs2149844500
|
|
NM_018368.4(LMBRD1):c.1166G>A (p.Gly389Asp)
|
|
|
NM_018368.4(LMBRD1):c.11C>T (p.Ser4Phe)
|
|
|
NM_018368.4(LMBRD1):c.125G>A (p.Ser42Asn)
|
|
|
NM_018368.4(LMBRD1):c.1286A>G (p.Tyr429Cys)
|
|
|
NM_018368.4(LMBRD1):c.1331T>C (p.Leu444Ser)
|
rs2149843427
|
|
NM_018368.4(LMBRD1):c.1370A>G (p.Asn457Ser)
|
|
|
NM_018368.4(LMBRD1):c.1435C>T (p.Arg479Trp)
|
|
|
NM_018368.4(LMBRD1):c.1436G>A (p.Arg479Gln)
|
|
|
NM_018368.4(LMBRD1):c.151A>G (p.Ile51Val)
|
|
|
NM_018368.4(LMBRD1):c.151A>T (p.Ile51Phe)
|
rs758878362
|
|
NM_018368.4(LMBRD1):c.1538G>A (p.Cys513Tyr)
|
|
|
NM_018368.4(LMBRD1):c.156T>G (p.Phe52Leu)
|
|
|
NM_018368.4(LMBRD1):c.1577A>G (p.Glu526Gly)
|
rs761378514
|
|
NM_018368.4(LMBRD1):c.160C>G (p.Leu54Val)
|
rs1402538766
|
|
NM_018368.4(LMBRD1):c.1611C>G (p.Val537=)
|
rs534280770
|
|
NM_018368.4(LMBRD1):c.164C>T (p.Ala55Val)
|
rs750928457
|
|
NM_018368.4(LMBRD1):c.23C>T (p.Ser8Leu)
|
|
|
NM_018368.4(LMBRD1):c.25G>A (p.Ala9Thr)
|
|
|
NM_018368.4(LMBRD1):c.272G>C (p.Arg91Thr)
|
|
|
NM_018368.4(LMBRD1):c.284A>T (p.Asp95Val)
|
rs756284919
|
|
NM_018368.4(LMBRD1):c.323T>C (p.Ile108Thr)
|
|
|
NM_018368.4(LMBRD1):c.368A>G (p.Tyr123Cys)
|
rs1765174962
|
|
NM_018368.4(LMBRD1):c.37A>G (p.Ile13Val)
|
|
|
NM_018368.4(LMBRD1):c.400T>C (p.Cys134Arg)
|
rs1582124917
|
|
NM_018368.4(LMBRD1):c.403A>C (p.Thr135Pro)
|
|
|
NM_018368.4(LMBRD1):c.40G>A (p.Gly14Ser)
|
|
|
NM_018368.4(LMBRD1):c.500A>G (p.Asn167Ser)
|
|
|
NM_018368.4(LMBRD1):c.55G>T (p.Gly19Cys)
|
|
|
NM_018368.4(LMBRD1):c.582A>G (p.Ser194=)
|
rs1387756161
|
|
NM_018368.4(LMBRD1):c.5C>G (p.Ala2Gly)
|
|
|
NM_018368.4(LMBRD1):c.614T>C (p.Met205Thr)
|
|
|
NM_018368.4(LMBRD1):c.641A>G (p.Tyr214Cys)
|
|
|
NM_018368.4(LMBRD1):c.662T>C (p.Leu221Ser)
|
rs2149856480
|
|
NM_018368.4(LMBRD1):c.676G>T (p.Gly226Cys)
|
rs2149856461
|
|
NM_018368.4(LMBRD1):c.686G>A (p.Ser229Asn)
|
|
|
NM_018368.4(LMBRD1):c.687C>G (p.Ser229Arg)
|
|
|
NM_018368.4(LMBRD1):c.695A>G (p.Tyr232Cys)
|
|
|
NM_018368.4(LMBRD1):c.700C>T (p.Arg234Cys)
|
|
|
NM_018368.4(LMBRD1):c.727G>C (p.Glu243Gln)
|
rs1766553572
|
|
NM_018368.4(LMBRD1):c.773G>T (p.Gly258Val)
|
|
|
NM_018368.4(LMBRD1):c.776G>A (p.Arg259Gln)
|
|
|
NM_018368.4(LMBRD1):c.78G>C (p.Leu26Phe)
|
|
|
NM_018368.4(LMBRD1):c.800G>A (p.Arg267His)
|
|
|
NM_018368.4(LMBRD1):c.88T>C (p.Trp30Arg)
|
rs1582168492
|
|
NM_018368.4(LMBRD1):c.940T>G (p.Leu314Val)
|
rs1409901040
|
|
NM_018368.4(LMBRD1):c.947C>T (p.Ala316Val)
|
rs2149845543
|
|
NM_018368.4(LMBRD1):c.953T>C (p.Leu318Pro)
|
|
|
NM_018368.4(LMBRD1):c.980+3A>G
|
|
|
NM_018368.4(LMBRD1):c.981-14G>T
|
rs1324981458
|
|
NM_018368.4(LMBRD1):c.989A>C (p.Lys330Thr)
|
rs766881860
|
|
NM_018418.5(SPATA7):c.-32G>T
|
rs200780988
|
|
NM_018418.5(SPATA7):c.-62G>A
|
rs886050872
|
|
NM_018418.5(SPATA7):c.1144G>T (p.Gly382Cys)
|
rs776604824
|
|
NM_018418.5(SPATA7):c.1220A>T (p.Lys407Ile)
|
rs886050873
|
|
NM_018418.5(SPATA7):c.1236G>A (p.Leu412=)
|
rs2077132550
|
|
NM_018418.5(SPATA7):c.1283T>G (p.Val428Gly)
|
rs1203146338
|
|
NM_018418.5(SPATA7):c.1611T>C (p.Ser537=)
|
rs1399885444
|
|
NM_018418.5(SPATA7):c.1683A>G (p.Thr561=)
|
rs886050875
|
|
NM_018418.5(SPATA7):c.57G>A (p.Pro19=)
|
rs367830780
|
|
NM_018418.5(SPATA7):c.57G>T (p.Pro19=)
|
rs367830780
|
|
NM_018418.5(SPATA7):c.605G>A (p.Arg202Lys)
|
rs2076795225
|
|
NM_018418.5(SPATA7):c.654G>T (p.Ser218=)
|
rs1566779741
|
|
NM_018706.7(DHTKD1):c.100C>A (p.Arg34=)
|
rs1195184698
|
|
NM_018706.7(DHTKD1):c.1019G>T (p.Gly340Val)
|
|
|
NM_018706.7(DHTKD1):c.1037T>C (p.Phe346Ser)
|
rs2131360674
|
|
NM_018706.7(DHTKD1):c.1055C>G (p.Pro352Arg)
|
|
|
NM_018706.7(DHTKD1):c.1067T>C (p.Ile356Thr)
|
rs1250819676
|
|
NM_018706.7(DHTKD1):c.1081C>T (p.His361Tyr)
|
|
|
NM_018706.7(DHTKD1):c.1097A>G (p.Asn366Ser)
|
|
|
NM_018706.7(DHTKD1):c.1099C>G (p.Gln367Glu)
|
|
|
NM_018706.7(DHTKD1):c.113C>G (p.Pro38Arg)
|
|
|
NM_018706.7(DHTKD1):c.1150A>G (p.Ser384Gly)
|
|
|
NM_018706.7(DHTKD1):c.1150A>T (p.Ser384Cys)
|
|
|
NM_018706.7(DHTKD1):c.1159+5G>A
|
|
|
NM_018706.7(DHTKD1):c.1160-17G>A
|
|
|
NM_018706.7(DHTKD1):c.116A>G (p.Glu39Gly)
|
|
|
NM_018706.7(DHTKD1):c.1180A>G (p.Ile394Val)
|
rs776977187
|
|
NM_018706.7(DHTKD1):c.1186C>T (p.His396Tyr)
|
|
|
NM_018706.7(DHTKD1):c.1193A>G (p.Asn398Ser)
|
|
|
NM_018706.7(DHTKD1):c.1219C>T (p.Arg407Cys)
|
|
|
NM_018706.7(DHTKD1):c.1223C>T (p.Ala408Val)
|
rs1564392988
|
|
NM_018706.7(DHTKD1):c.1225A>T (p.Thr409Ser)
|
|
|
NM_018706.7(DHTKD1):c.1249C>T (p.Arg417Cys)
|
|
|
NM_018706.7(DHTKD1):c.124G>A (p.Glu42Lys)
|
|
|
NM_018706.7(DHTKD1):c.1250G>A (p.Arg417His)
|
|
|
NM_018706.7(DHTKD1):c.1259G>A (p.Arg420His)
|
rs200039178
|
|
NM_018706.7(DHTKD1):c.1264G>A (p.Asp422Asn)
|
|
|
NM_018706.7(DHTKD1):c.1266T>A (p.Asp422Glu)
|
rs1833034016
|
|
NM_018706.7(DHTKD1):c.1267G>A (p.Val423Met)
|
rs761350668
|
|
NM_018706.7(DHTKD1):c.127C>A (p.Pro43Thr)
|
rs2131342394
|
|
NM_018706.7(DHTKD1):c.1339A>G (p.Ile447Val)
|
|
|
NM_018706.7(DHTKD1):c.1382C>A (p.Thr461Lys)
|
rs201559023
|
|
NM_018706.7(DHTKD1):c.1382C>G (p.Thr461Arg)
|
rs201559023
|
|
NM_018706.7(DHTKD1):c.1384T>C (p.Tyr462His)
|
|
|
NM_018706.7(DHTKD1):c.1390G>A (p.Glu464Lys)
|
|
|
NM_018706.7(DHTKD1):c.1394A>T (p.His465Leu)
|
rs2131365248
|
|
NM_018706.7(DHTKD1):c.1399A>G (p.Ile467Val)
|
|
|
NM_018706.7(DHTKD1):c.1402G>A (p.Ala468Thr)
|
rs756190281
|
|
NM_018706.7(DHTKD1):c.1418C>T (p.Thr473Met)
|
|
|
NM_018706.7(DHTKD1):c.1432T>A (p.Ser478Thr)
|
rs2131365279
|
|
NM_018706.7(DHTKD1):c.1450T>C (p.Tyr484His)
|
rs922732733
|
|
NM_018706.7(DHTKD1):c.1454A>G (p.Tyr485Cys)
|
|
|
NM_018706.7(DHTKD1):c.1496G>A (p.Arg499Lys)
|
|
|
NM_018706.7(DHTKD1):c.1497G>T (p.Arg499Ser)
|
|
|
NM_018706.7(DHTKD1):c.1498C>G (p.Pro500Ala)
|
|
|
NM_018706.7(DHTKD1):c.1505C>T (p.Ala502Val)
|
|
|
NM_018706.7(DHTKD1):c.1508T>C (p.Leu503Pro)
|
rs1833095845
|
|
NM_018706.7(DHTKD1):c.1512C>A (p.Asn504Lys)
|
|
|
NM_018706.7(DHTKD1):c.151C>G (p.Pro51Ala)
|
|
|
NM_018706.7(DHTKD1):c.152C>A (p.Pro51Gln)
|
|
|
NM_018706.7(DHTKD1):c.1531G>C (p.Gly511Arg)
|
|
|
NM_018706.7(DHTKD1):c.1537G>C (p.Ala513Pro)
|
|
|
NM_018706.7(DHTKD1):c.153A>T (p.Pro51=)
|
|
|
NM_018706.7(DHTKD1):c.154+6G>T
|
|
|
NM_018706.7(DHTKD1):c.154+8A>G
|
|
|
NM_018706.7(DHTKD1):c.1542G>T (p.Gln514His)
|
|
|
NM_018706.7(DHTKD1):c.154G>A (p.Val52Ile)
|
|
|
NM_018706.7(DHTKD1):c.1553A>C (p.Gln518Pro)
|
|
|
NM_018706.7(DHTKD1):c.155T>C (p.Val52Ala)
|
|
|
NM_018706.7(DHTKD1):c.1562C>G (p.Thr521Ser)
|
|
|
NM_018706.7(DHTKD1):c.1573G>A (p.Gly525Ser)
|
rs1588612342
|
|
NM_018706.7(DHTKD1):c.1580C>T (p.Pro527Leu)
|
|
|
NM_018706.7(DHTKD1):c.1585G>A (p.Asp529Asn)
|
|
|
NM_018706.7(DHTKD1):c.1604G>A (p.Gly535Asp)
|
|
|
NM_018706.7(DHTKD1):c.160C>T (p.His54Tyr)
|
|
|
NM_018706.7(DHTKD1):c.1624C>T (p.Pro542Ser)
|
|
|
NM_018706.7(DHTKD1):c.1630G>C (p.Glu544Gln)
|
|
|
NM_018706.7(DHTKD1):c.1638G>C (p.Gln546His)
|
|
|
NM_018706.7(DHTKD1):c.163G>A (p.Gly55Ser)
|
|
|
NM_018706.7(DHTKD1):c.1645A>G (p.Ser549Gly)
|
|
|
NM_018706.7(DHTKD1):c.1647T>A (p.Ser549Arg)
|
|
|
NM_018706.7(DHTKD1):c.1664A>C (p.His555Pro)
|
|
|
NM_018706.7(DHTKD1):c.1664A>G (p.His555Arg)
|
|
|
NM_018706.7(DHTKD1):c.1671+3G>T
|
|
|
NM_018706.7(DHTKD1):c.1685A>G (p.Lys562Arg)
|
rs2131367049
|
|
NM_018706.7(DHTKD1):c.1696G>A (p.Gly566Arg)
|
|
|
NM_018706.7(DHTKD1):c.1705C>G (p.Leu569Val)
|
|
|
NM_018706.7(DHTKD1):c.1709A>G (p.Asp570Gly)
|
|
|
NM_018706.7(DHTKD1):c.1709A>T (p.Asp570Val)
|
|
|
NM_018706.7(DHTKD1):c.1710C>A (p.Asp570Glu)
|
|
|
NM_018706.7(DHTKD1):c.1711T>C (p.Trp571Arg)
|
|
|
NM_018706.7(DHTKD1):c.1744T>G (p.Leu582Val)
|
|
|
NM_018706.7(DHTKD1):c.1753C>G (p.Gln585Glu)
|
|
|
NM_018706.7(DHTKD1):c.1757-3A>T
|
|
|
NM_018706.7(DHTKD1):c.1769G>A (p.Arg590His)
|
|
|
NM_018706.7(DHTKD1):c.1769G>T (p.Arg590Leu)
|
rs139836411
|
|
NM_018706.7(DHTKD1):c.1790G>A (p.Gly597Asp)
|
|
|
NM_018706.7(DHTKD1):c.1793G>A (p.Arg598His)
|
|
|
NM_018706.7(DHTKD1):c.1813C>T (p.His605Tyr)
|
|
|
NM_018706.7(DHTKD1):c.1819A>G (p.Ile607Val)
|
|
|
NM_018706.7(DHTKD1):c.1826T>C (p.Val609Ala)
|
|
|
NM_018706.7(DHTKD1):c.1843G>A (p.Asp615Asn)
|
|
|
NM_018706.7(DHTKD1):c.1846A>C (p.Thr616Pro)
|
|
|
NM_018706.7(DHTKD1):c.1846A>G (p.Thr616Ala)
|
rs1186888662
|
|
NM_018706.7(DHTKD1):c.1847C>T (p.Thr616Ile)
|
|
|
NM_018706.7(DHTKD1):c.1864C>T (p.His622Tyr)
|
rs1462585733
|
|
NM_018706.7(DHTKD1):c.1886G>A (p.Gly629Glu)
|
rs933926558
|
|
NM_018706.7(DHTKD1):c.188A>T (p.Tyr63Phe)
|
rs768895085
|
|
NM_018706.7(DHTKD1):c.1906A>G (p.Ser636Gly)
|
|
|
NM_018706.7(DHTKD1):c.190T>C (p.Cys64Arg)
|
|
|
NM_018706.7(DHTKD1):c.1910_1911delinsGC (p.Pro637Arg)
|
rs2131619564
|
|
NM_018706.7(DHTKD1):c.1911_1912delinsCA (p.Leu638Met)
|
|
|
NM_018706.7(DHTKD1):c.1913T>C (p.Leu638Pro)
|
|
|
NM_018706.7(DHTKD1):c.1927G>A (p.Val643Ile)
|
|
|
NM_018706.7(DHTKD1):c.1938T>A (p.Phe646Leu)
|
|
|
NM_018706.7(DHTKD1):c.1939G>A (p.Glu647Lys)
|
|
|
NM_018706.7(DHTKD1):c.193G>C (p.Glu65Gln)
|
|
|
NM_018706.7(DHTKD1):c.1950G>A (p.Met650Ile)
|
|
|
NM_018706.7(DHTKD1):c.1952G>A (p.Ser651Asn)
|
rs1833246281
|
|
NM_018706.7(DHTKD1):c.1955T>C (p.Ile652Thr)
|
|
|
NM_018706.7(DHTKD1):c.1961G>A (p.Ser654Asn)
|
rs748103025
|
|
NM_018706.7(DHTKD1):c.1987_1988delinsAG (p.Ala663Arg)
|
|
|
NM_018706.7(DHTKD1):c.1995T>G (p.Phe665Leu)
|
|
|
NM_018706.7(DHTKD1):c.1997G>A (p.Gly666Asp)
|
|
|
NM_018706.7(DHTKD1):c.1999G>C (p.Asp667His)
|
|
|
NM_018706.7(DHTKD1):c.2009A>G (p.Asn670Ser)
|
|
|
NM_018706.7(DHTKD1):c.2012G>A (p.Gly671Asp)
|
|
|
NM_018706.7(DHTKD1):c.2014G>A (p.Ala672Thr)
|
rs2131619684
|
|
NM_018706.7(DHTKD1):c.2018A>G (p.Gln673Arg)
|
rs1833247558
|
|
NM_018706.7(DHTKD1):c.2023A>G (p.Ile675Val)
|
|
|
NM_018706.7(DHTKD1):c.2032A>G (p.Thr678Ala)
|
|
|
NM_018706.7(DHTKD1):c.2041T>A (p.Ser681Thr)
|
|
|
NM_018706.7(DHTKD1):c.2047+18G>A
|
|
|
NM_018706.7(DHTKD1):c.2048G>T (p.Gly683Val)
|
|
|
NM_018706.7(DHTKD1):c.2062C>T (p.Leu688Phe)
|
rs2131620901
|
|
NM_018706.7(DHTKD1):c.2079_2080delinsTT (p.Val694Phe)
|
|
|
NM_018706.7(DHTKD1):c.2095C>G (p.His699Asp)
|
|
|
NM_018706.7(DHTKD1):c.2096A>G (p.His699Arg)
|
|
|
NM_018706.7(DHTKD1):c.209C>A (p.Ala70Asp)
|
|
|
NM_018706.7(DHTKD1):c.2104G>A (p.Asp702Asn)
|
|
|
NM_018706.7(DHTKD1):c.2106T>G (p.Asp702Glu)
|
rs759597069
|
|
NM_018706.7(DHTKD1):c.2110G>T (p.Ala704Ser)
|
rs1354505166
|
|
NM_018706.7(DHTKD1):c.2113G>A (p.Gly705Arg)
|
|
|
NM_018706.7(DHTKD1):c.2116C>T (p.Pro706Ser)
|
|
|
NM_018706.7(DHTKD1):c.212C>T (p.Ala71Val)
|
|
|
NM_018706.7(DHTKD1):c.2140G>C (p.Glu714Gln)
|
|
|
NM_018706.7(DHTKD1):c.2154G>A (p.Gln718=)
|
|
|
NM_018706.7(DHTKD1):c.2155-3C>T
|
rs2131624128
|
|
NM_018706.7(DHTKD1):c.2156T>G (p.Met719Arg)
|
|
|
NM_018706.7(DHTKD1):c.2166T>G (p.Ser722Arg)
|
|
|
NM_018706.7(DHTKD1):c.2168C>T (p.Ala723Val)
|
|
|
NM_018706.7(DHTKD1):c.2175G>C (p.Glu725Asp)
|
|
|
NM_018706.7(DHTKD1):c.2175G>T (p.Glu725Asp)
|
rs775438065
|
|
NM_018706.7(DHTKD1):c.2194G>A (p.Val732Met)
|
|
|
NM_018706.7(DHTKD1):c.2233T>C (p.Tyr745His)
|
|
|
NM_018706.7(DHTKD1):c.2242T>G (p.Leu748Val)
|
|
|
NM_018706.7(DHTKD1):c.2252_2266del (p.Arg751_Arg755del)
|
rs1833358229
|
|
NM_018706.7(DHTKD1):c.2261T>A (p.Val754Asp)
|
|
|
NM_018706.7(DHTKD1):c.2263C>T (p.Arg755Trp)
|
|
|
NM_018706.7(DHTKD1):c.2264G>A (p.Arg755Gln)
|
|
|
NM_018706.7(DHTKD1):c.2264G>C (p.Arg755Pro)
|
|
|
NM_018706.7(DHTKD1):c.2279C>G (p.Pro760Arg)
|
|
|
NM_018706.7(DHTKD1):c.227T>C (p.Leu76Pro)
|
|
|
NM_018706.7(DHTKD1):c.2284A>G (p.Ile762Val)
|
rs2131624242
|
|
NM_018706.7(DHTKD1):c.2296C>G (p.Pro766Ala)
|
|
|
NM_018706.7(DHTKD1):c.232A>G (p.Thr78Ala)
|
|
|
NM_018706.7(DHTKD1):c.2351C>T (p.Pro784Leu)
|
|
|
NM_018706.7(DHTKD1):c.2356A>G (p.Thr786Ala)
|
|
|
NM_018706.7(DHTKD1):c.2356ACA[1] (p.Thr787del)
|
rs563856629
|
|
NM_018706.7(DHTKD1):c.235G>A (p.Gly79Arg)
|
|
|
NM_018706.7(DHTKD1):c.2362T>C (p.Phe788Leu)
|
|
|
NM_018706.7(DHTKD1):c.2369C>T (p.Pro790Leu)
|
|
|
NM_018706.7(DHTKD1):c.2374A>T (p.Ile792Phe)
|
|
|
NM_018706.7(DHTKD1):c.2378G>A (p.Gly793Asp)
|
|
|
NM_018706.7(DHTKD1):c.2392G>T (p.Asp798Tyr)
|
|
|
NM_018706.7(DHTKD1):c.239A>C (p.Gln80Pro)
|
|
|
NM_018706.7(DHTKD1):c.2403-3C>A
|
|
|
NM_018706.7(DHTKD1):c.2403G>A (p.Lys801=)
|
|
|
NM_018706.7(DHTKD1):c.2416G>A (p.Val806Met)
|
|
|
NM_018706.7(DHTKD1):c.241G>A (p.Ala81Thr)
|
|
|
NM_018706.7(DHTKD1):c.2425T>C (p.Ser809Pro)
|
|
|
NM_018706.7(DHTKD1):c.2428G>A (p.Gly810Ser)
|
|
|
NM_018706.7(DHTKD1):c.2432A>G (p.Lys811Arg)
|
|
|
NM_018706.7(DHTKD1):c.2441A>G (p.Tyr814Cys)
|
|
|
NM_018706.7(DHTKD1):c.2447T>C (p.Leu816Pro)
|
|
|
NM_018706.7(DHTKD1):c.2470G>A (p.Gly824Arg)
|
|
|
NM_018706.7(DHTKD1):c.2482C>T (p.His828Tyr)
|
|
|
NM_018706.7(DHTKD1):c.2494A>G (p.Ile832Val)
|
|
|
NM_018706.7(DHTKD1):c.2497A>G (p.Ile833Val)
|
rs972227565
|
|
NM_018706.7(DHTKD1):c.2518C>T (p.Pro840Ser)
|
|
|
NM_018706.7(DHTKD1):c.2523C>A (p.Phe841Leu)
|
|
|
NM_018706.7(DHTKD1):c.252G>C (p.Glu84Asp)
|
|
|
NM_018706.7(DHTKD1):c.2549T>C (p.Met850Thr)
|
|
|
NM_018706.7(DHTKD1):c.2566G>C (p.Val856Leu)
|
|
|
NM_018706.7(DHTKD1):c.2571A>G (p.Lys857=)
|
|
|
NM_018706.7(DHTKD1):c.2572+5G>A
|
rs1833469793
|
|
NM_018706.7(DHTKD1):c.2572G>A (p.Asp858Asn)
|
|
|
NM_018706.7(DHTKD1):c.2573A>C (p.Asp858Ala)
|
|
|
NM_018706.7(DHTKD1):c.2575C>A (p.His859Asn)
|
rs769419156
|
|
NM_018706.7(DHTKD1):c.2575C>T (p.His859Tyr)
|
|
|
NM_018706.7(DHTKD1):c.259C>T (p.Pro87Ser)
|
|
|
NM_018706.7(DHTKD1):c.2604dup (p.Met869fs)
|
|
|
NM_018706.7(DHTKD1):c.2614T>C (p.Trp872Arg)
|
rs1021701691
|
|
NM_018706.7(DHTKD1):c.2623G>A (p.Val875Ile)
|
|
|
NM_018706.7(DHTKD1):c.2632A>G (p.Arg878Gly)
|
|
|
NM_018706.7(DHTKD1):c.2650G>C (p.Ala884Pro)
|
rs749888809
|
|
NM_018706.7(DHTKD1):c.2658+1G>T
|
|
|
NM_018706.7(DHTKD1):c.2662C>A (p.Arg888Ser)
|
rs143212640
|
|
NM_018706.7(DHTKD1):c.2662C>T (p.Arg888Cys)
|
rs143212640
|
|
NM_018706.7(DHTKD1):c.2663G>A (p.Arg888His)
|
rs757827550
|
|
NM_018706.7(DHTKD1):c.2668G>T (p.Val890Leu)
|
|
|
NM_018706.7(DHTKD1):c.2675G>A (p.Arg892Gln)
|
rs574614585
|
|
NM_018706.7(DHTKD1):c.2675G>T (p.Arg892Leu)
|
rs574614585
|
|
NM_018706.7(DHTKD1):c.2684T>G (p.Leu895Trp)
|
rs2131631166
|
|
NM_018706.7(DHTKD1):c.2685G>C (p.Leu895Phe)
|
|
|
NM_018706.7(DHTKD1):c.2686C>T (p.Pro896Ser)
|
rs1833515167
|
|
NM_018706.7(DHTKD1):c.2689G>A (p.Val897Ile)
|
|
|
NM_018706.7(DHTKD1):c.2705T>C (p.Ile902Thr)
|
|
|
NM_018706.7(DHTKD1):c.2713G>C (p.Val905Leu)
|
|
|
NM_018706.7(DHTKD1):c.2717A>G (p.His906Arg)
|
|
|
NM_018706.7(DHTKD1):c.2718C>A (p.His906Gln)
|
|
|
NM_018706.7(DHTKD1):c.2727G>T (p.Gln909His)
|
|
|
NM_018706.7(DHTKD1):c.272C>T (p.Ala91Val)
|
rs1131691629
|
|
NM_018706.7(DHTKD1):c.2743G>A (p.Ala915Thr)
|
|
|
NM_018706.7(DHTKD1):c.2743G>C (p.Ala915Pro)
|
|
|
NM_018706.7(DHTKD1):c.2750C>G (p.Thr917Ser)
|
|
|
NM_018706.7(DHTKD1):c.287T>C (p.Leu96Pro)
|
|
|
NM_018706.7(DHTKD1):c.289C>A (p.Gln97Lys)
|
|
|
NM_018706.7(DHTKD1):c.2T>G (p.Met1Arg)
|
rs760903542
|
|
NM_018706.7(DHTKD1):c.326G>A (p.Gly109Glu)
|
|
|
NM_018706.7(DHTKD1):c.329A>G (p.Lys110Arg)
|
|
|
NM_018706.7(DHTKD1):c.377A>G (p.Tyr126Cys)
|
|
|
NM_018706.7(DHTKD1):c.395T>C (p.Ile132Thr)
|
|
|
NM_018706.7(DHTKD1):c.401C>T (p.Thr134Ile)
|
|
|
NM_018706.7(DHTKD1):c.40G>C (p.Gly14Arg)
|
|
|
NM_018706.7(DHTKD1):c.40G>T (p.Gly14Cys)
|
|
|
NM_018706.7(DHTKD1):c.41G>C (p.Gly14Ala)
|
|
|
NM_018706.7(DHTKD1):c.423T>A (p.Asp141Glu)
|
|
|
NM_018706.7(DHTKD1):c.443A>G (p.Lys148Arg)
|
|
|
NM_018706.7(DHTKD1):c.445C>T (p.Arg149Trp)
|
rs141125831
|
|
NM_018706.7(DHTKD1):c.451G>A (p.Glu151Lys)
|
|
|
NM_018706.7(DHTKD1):c.458T>G (p.Leu153Arg)
|
|
|
NM_018706.7(DHTKD1):c.465G>T (p.Lys155Asn)
|
|
|
NM_018706.7(DHTKD1):c.46G>A (p.Ala16Thr)
|
|
|
NM_018706.7(DHTKD1):c.497T>C (p.Leu166Pro)
|
|
|
NM_018706.7(DHTKD1):c.49C>T (p.Leu17Phe)
|
|
|
NM_018706.7(DHTKD1):c.509T>G (p.Met170Arg)
|
|
|
NM_018706.7(DHTKD1):c.523-3C>T
|
|
|
NM_018706.7(DHTKD1):c.523-8T>G
|
|
|
NM_018706.7(DHTKD1):c.523G>C (p.Glu175Gln)
|
|
|
NM_018706.7(DHTKD1):c.52C>T (p.Pro18Ser)
|
|
|
NM_018706.7(DHTKD1):c.554C>T (p.Ser185Leu)
|
|
|
NM_018706.7(DHTKD1):c.559G>C (p.Val187Leu)
|
|
|
NM_018706.7(DHTKD1):c.569A>T (p.Tyr190Phe)
|
|
|
NM_018706.7(DHTKD1):c.608A>G (p.His203Arg)
|
rs2131357346
|
|
NM_018706.7(DHTKD1):c.613C>G (p.Leu205Val)
|
|
|
NM_018706.7(DHTKD1):c.624G>A (p.Met208Ile)
|
|
|
NM_018706.7(DHTKD1):c.635G>A (p.Ser212Asn)
|
|
|
NM_018706.7(DHTKD1):c.637G>A (p.Gly213Arg)
|
|
|
NM_018706.7(DHTKD1):c.649G>A (p.Val217Ile)
|
|
|
NM_018706.7(DHTKD1):c.649G>T (p.Val217Phe)
|
|
|
NM_018706.7(DHTKD1):c.691A>G (p.Thr231Ala)
|
|
|
NM_018706.7(DHTKD1):c.698T>A (p.Leu233His)
|
|
|
NM_018706.7(DHTKD1):c.700C>A (p.Leu234Met)
|
rs140003684
|
|
NM_018706.7(DHTKD1):c.700_701delinsGG (p.Leu234Gly)
|
rs2131357438
|
|
NM_018706.7(DHTKD1):c.710C>T (p.Pro237Leu)
|
|
|
NM_018706.7(DHTKD1):c.718-4A>G
|
|
|
NM_018706.7(DHTKD1):c.721A>G (p.Met241Val)
|
|
|
NM_018706.7(DHTKD1):c.728G>A (p.Arg243His)
|
|
|
NM_018706.7(DHTKD1):c.728G>T (p.Arg243Leu)
|
rs781779430
|
|
NM_018706.7(DHTKD1):c.737G>A (p.Arg246Gln)
|
|
|
NM_018706.7(DHTKD1):c.737G>C (p.Arg246Pro)
|
|
|
NM_018706.7(DHTKD1):c.761A>G (p.Asn254Ser)
|
|
|
NM_018706.7(DHTKD1):c.773C>G (p.Thr258Ser)
|
|
|
NM_018706.7(DHTKD1):c.781G>A (p.Val261Ile)
|
|
|
NM_018706.7(DHTKD1):c.800C>A (p.Ser267Tyr)
|
rs764869852
|
|
NM_018706.7(DHTKD1):c.817T>C (p.Phe273Leu)
|
|
|
NM_018706.7(DHTKD1):c.818T>C (p.Phe273Ser)
|
|
|
NM_018706.7(DHTKD1):c.823G>T (p.Ala275Ser)
|
|
|
NM_018706.7(DHTKD1):c.831T>G (p.His277Gln)
|
|
|
NM_018706.7(DHTKD1):c.841G>A (p.Val281Met)
|
|
|
NM_018706.7(DHTKD1):c.847A>T (p.Met283Leu)
|
|
|
NM_018706.7(DHTKD1):c.851T>C (p.Leu284Ser)
|
|
|
NM_018706.7(DHTKD1):c.857A>G (p.Asn286Ser)
|
|
|
NM_018706.7(DHTKD1):c.877G>A (p.Val293Ile)
|
|
|
NM_018706.7(DHTKD1):c.890C>T (p.Ala297Val)
|
rs1832949989
|
|
NM_018706.7(DHTKD1):c.892G>A (p.Val298Met)
|
|
|
NM_018706.7(DHTKD1):c.905G>A (p.Arg302His)
|
|
|
NM_018706.7(DHTKD1):c.907G>A (p.Gly303Ser)
|
|
|
NM_018706.7(DHTKD1):c.908G>T (p.Gly303Val)
|
|
|
NM_018706.7(DHTKD1):c.915G>C (p.Gln305His)
|
|
|
NM_018706.7(DHTKD1):c.934G>A (p.Asp312Asn)
|
|
|
NM_018706.7(DHTKD1):c.941C>T (p.Ser314Phe)
|
|
|
NM_018706.7(DHTKD1):c.944C>T (p.Pro315Leu)
|
|
|
NM_018706.7(DHTKD1):c.94G>A (p.Gly32Ser)
|
|
|
NM_018706.7(DHTKD1):c.953C>T (p.Ser318Leu)
|
|
|
NM_018706.7(DHTKD1):c.962C>A (p.Pro321Gln)
|
|
|
NM_018706.7(DHTKD1):c.967G>A (p.Asp323Asn)
|
|
|
NM_018706.7(DHTKD1):c.970A>G (p.Arg324Gly)
|
|
|
NM_018706.7(DHTKD1):c.973G>A (p.Val325Ile)
|
|
|
NM_018706.7(DHTKD1):c.981C>G (p.Cys327Trp)
|
|
|
NM_018706.7(DHTKD1):c.987+4C>T
|
|
|
NM_018706.7(DHTKD1):c.987G>C (p.Gln329His)
|
|
|
NM_018706.7(DHTKD1):c.992A>G (p.His331Arg)
|
|
|
NM_020166.4(MCCC1):c.-101C>T
|
rs886058210
|
|
NM_020166.4(MCCC1):c.-102C>A
|
rs543130921
|
|
NM_020166.4(MCCC1):c.-132C>T
|
rs529095789
|
|
NM_020166.5(MCCC1):c.1016G>T (p.Arg339Met)
|
|
|
NM_020166.5(MCCC1):c.1040C>A (p.Thr347Asn)
|
rs1714478055
|
|
NM_020166.5(MCCC1):c.1067T>C (p.Val356Ala)
|
rs1714474829
|
|
NM_020166.5(MCCC1):c.1123A>G (p.Ile375Val)
|
rs2108479414
|
|
NM_020166.5(MCCC1):c.1134_1136dup (p.Gly379dup)
|
rs2108479359
|
|
NM_020166.5(MCCC1):c.1139A>T (p.His380Leu)
|
|
|
NM_020166.5(MCCC1):c.1140T>G (p.His380Gln)
|
rs1714100545
|
|
NM_020166.5(MCCC1):c.1149A>C (p.Glu383Asp)
|
|
|
NM_020166.5(MCCC1):c.117G>A (p.Met39Ile)
|
|
|
NM_020166.5(MCCC1):c.1208T>G (p.Val403Gly)
|
|
|
NM_020166.5(MCCC1):c.1216T>C (p.Ser406Pro)
|
rs1714092180
|
|
NM_020166.5(MCCC1):c.1223C>T (p.Pro408Leu)
|
rs1577276072
|
|
NM_020166.5(MCCC1):c.1225C>G (p.Arg409Gly)
|
rs1484347924
|
|
NM_020166.5(MCCC1):c.1270G>A (p.Asp424Asn)
|
rs1713861760
|
|
NM_020166.5(MCCC1):c.1273G>A (p.Glu425Lys)
|
|
|
NM_020166.5(MCCC1):c.1288T>G (p.Tyr430Asp)
|
rs2108474014
|
|
NM_020166.5(MCCC1):c.1304C>T (p.Ala435Val)
|
rs1232970567
|
|
NM_020166.5(MCCC1):c.130_131delinsTT (p.Ala44Phe)
|
rs1553868919
|
|
NM_020166.5(MCCC1):c.1315G>T (p.Val439Leu)
|
rs398124352
|
|
NM_020166.5(MCCC1):c.1324G>T (p.Ala442Ser)
|
|
|
NM_020166.5(MCCC1):c.1339G>A (p.Ala447Thr)
|
rs546480708
|
|
NM_020166.5(MCCC1):c.1339G>T (p.Ala447Ser)
|
rs546480708
|
|
NM_020166.5(MCCC1):c.137-10T>G
|
rs1560281403
|
|
NM_020166.5(MCCC1):c.1377+6T>G
|
rs1369902442
|
|
NM_020166.5(MCCC1):c.1385G>T (p.Gly462Val)
|
rs2108470950
|
|
NM_020166.5(MCCC1):c.139A>G (p.Arg47Gly)
|
|
|
NM_020166.5(MCCC1):c.1417C>G (p.Leu473Val)
|
rs565662458
|
|
NM_020166.5(MCCC1):c.1418T>C (p.Leu473Pro)
|
|
|
NM_020166.5(MCCC1):c.1422_1426delinsAA (p.Gly475_His476delinsAsn)
|
rs1560219885
|
|
NM_020166.5(MCCC1):c.1427A>T (p.His476Leu)
|
rs1560219876
|
|
NM_020166.5(MCCC1):c.1444G>A (p.Gly482Arg)
|
rs1290771044
|
|
NM_020166.5(MCCC1):c.1450G>C (p.Val484Leu)
|
|
|
NM_020166.5(MCCC1):c.1475A>G (p.His492Arg)
|
rs1713701795
|
|
NM_020166.5(MCCC1):c.1481A>T (p.Lys494Ile)
|
|
|
NM_020166.5(MCCC1):c.1495A>G (p.Ser499Gly)
|
|
|
NM_020166.5(MCCC1):c.1508C>A (p.Ala503Glu)
|
|
|
NM_020166.5(MCCC1):c.1517A>C (p.Glu506Ala)
|
|
|
NM_020166.5(MCCC1):c.1554G>A (p.Lys518=)
|
rs563586657
|
|
NM_020166.5(MCCC1):c.1570G>A (p.Asp524Asn)
|
rs200031275
|
|
NM_020166.5(MCCC1):c.1580C>T (p.Thr527Ile)
|
|
|
NM_020166.5(MCCC1):c.1582C>T (p.Leu528Phe)
|
|
|
NM_020166.5(MCCC1):c.1594+3A>G
|
|
|
NM_020166.5(MCCC1):c.1619G>A (p.Ser540Asn)
|
|
|
NM_020166.5(MCCC1):c.1630A>G (p.Arg544Gly)
|
|
|
NM_020166.5(MCCC1):c.1643C>T (p.Ser548Leu)
|
|
|
NM_020166.5(MCCC1):c.1645T>C (p.Tyr549His)
|
|
|
NM_020166.5(MCCC1):c.1657A>G (p.Met553Val)
|
|
|
NM_020166.5(MCCC1):c.1658T>A (p.Met553Lys)
|
rs774055789
|
|
NM_020166.5(MCCC1):c.1681+2dup
|
|
|
NM_020166.5(MCCC1):c.170G>A (p.Arg57Lys)
|
|
|
NM_020166.5(MCCC1):c.1721A>G (p.Tyr574Cys)
|
|
|
NM_020166.5(MCCC1):c.1724G>A (p.Ser575Asn)
|
rs886058206
|
|
NM_020166.5(MCCC1):c.1782C>G (p.Asp594Glu)
|
|
|
NM_020166.5(MCCC1):c.17C>T (p.Ala6Val)
|
|
|
NM_020166.5(MCCC1):c.1802C>T (p.Ser601Phe)
|
rs1352360605
|
|
NM_020166.5(MCCC1):c.1843G>C (p.Glu615Gln)
|
rs2108441391
|
|
NM_020166.5(MCCC1):c.188G>A (p.Arg63Lys)
|
rs2108565998
|
|
NM_020166.5(MCCC1):c.1909T>G (p.Leu637Val)
|
|
|
NM_020166.5(MCCC1):c.1970T>C (p.Ile657Thr)
|
|
|
NM_020166.5(MCCC1):c.1977+4dup
|
rs1488259395
|
|
NM_020166.5(MCCC1):c.197G>A (p.Arg66His)
|
rs569042803
|
|
NM_020166.5(MCCC1):c.1984G>T (p.Val662Phe)
|
|
|
NM_020166.5(MCCC1):c.200C>T (p.Thr67Ile)
|
rs2108565928
|
|
NM_020166.5(MCCC1):c.2024T>C (p.Met675Thr)
|
rs1354787415
|
|
NM_020166.5(MCCC1):c.2030T>G (p.Met677Arg)
|
rs1553849443
|
|
NM_020166.5(MCCC1):c.2045T>G (p.Met682Arg)
|
|
|
NM_020166.5(MCCC1):c.2046G>C (p.Met682Ile)
|
|
|
NM_020166.5(MCCC1):c.2050-2A>G
|
rs2108428908
|
|
NM_020166.5(MCCC1):c.2050-6_2050-5del
|
rs780558586
|
|
NM_020166.5(MCCC1):c.2051A>G (p.His684Arg)
|
rs1553848994
|
|
NM_020166.5(MCCC1):c.2056A>G (p.Ile686Val)
|
rs751755306
|
|
NM_020166.5(MCCC1):c.2115del (p.Asn706fs)
|
rs2108428693
|
|
NM_020166.5(MCCC1):c.2123dup (p.His708fs)
|
rs1404350628
|
|
NM_020166.5(MCCC1):c.215G>C (p.Gly72Ala)
|
rs761521333
|
|
NM_020166.5(MCCC1):c.223A>G (p.Thr75Ala)
|
|
|
NM_020166.5(MCCC1):c.231G>A (p.Ala77=)
|
rs144230304
|
|
NM_020166.5(MCCC1):c.245C>G (p.Ala82Gly)
|
rs1577363370
|
|
NM_020166.5(MCCC1):c.247G>C (p.Asp83His)
|
rs1485157465
|
|
NM_020166.5(MCCC1):c.256T>C (p.Ser86Pro)
|
rs2108565751
|
|
NM_020166.5(MCCC1):c.260T>G (p.Met87Arg)
|
|
|
NM_020166.5(MCCC1):c.272T>C (p.Met91Thr)
|
rs1333663197
|
|
NM_020166.5(MCCC1):c.273+4T>C
|
rs949646980
|
|
NM_020166.5(MCCC1):c.280G>A (p.Glu94Lys)
|
rs1717925328
|
|
NM_020166.5(MCCC1):c.295G>C (p.Gly99Arg)
|
rs375244642
|
|
NM_020166.5(MCCC1):c.300C>G (p.Pro100=)
|
rs747409426
|
|
NM_020166.5(MCCC1):c.301G>A (p.Ala101Thr)
|
|
|
NM_020166.5(MCCC1):c.310C>A (p.Gln104Lys)
|
rs1177891822
|
|
NM_020166.5(MCCC1):c.320A>G (p.Tyr107Cys)
|
rs144872258
|
|
NM_020166.5(MCCC1):c.328A>G (p.Met110Val)
|
rs1717919066
|
|
NM_020166.5(MCCC1):c.350C>A (p.Ala117Asp)
|
rs754963220
|
|
NM_020166.5(MCCC1):c.359C>T (p.Ser120Phe)
|
rs1307589698
|
|
NM_020166.5(MCCC1):c.362C>T (p.Ala121Val)
|
rs1367329678
|
|
NM_020166.5(MCCC1):c.365C>T (p.Ala122Val)
|
|
|
NM_020166.5(MCCC1):c.370-16T>G
|
rs1716772551
|
|
NM_020166.5(MCCC1):c.386G>A (p.Cys129Tyr)
|
|
|
NM_020166.5(MCCC1):c.389G>T (p.Gly130Val)
|
rs2108528600
|
|
NM_020166.5(MCCC1):c.401A>G (p.Glu134Gly)
|
rs2108528559
|
|
NM_020166.5(MCCC1):c.415G>A (p.Ala139Thr)
|
rs1436217339
|
|
NM_020166.5(MCCC1):c.437G>C (p.Gly146Ala)
|
|
|
NM_020166.5(MCCC1):c.43G>A (p.Glu15Lys)
|
|
|
NM_020166.5(MCCC1):c.452G>A (p.Gly151Asp)
|
rs2108528467
|
|
NM_020166.5(MCCC1):c.453C>T (p.Gly151=)
|
rs1716764203
|
|
NM_020166.5(MCCC1):c.454C>T (p.Pro152Ser)
|
rs1022408190
|
|
NM_020166.5(MCCC1):c.480G>A (p.Met160Ile)
|
|
|
NM_020166.5(MCCC1):c.487A>C (p.Lys163Gln)
|
rs747747680
|
|
NM_020166.5(MCCC1):c.497C>T (p.Ser166Phe)
|
rs2108526692
|
|
NM_020166.5(MCCC1):c.503C>A (p.Ser168Tyr)
|
rs2108526676
|
|
NM_020166.5(MCCC1):c.530T>C (p.Val177Ala)
|
rs1716671130
|
|
NM_020166.5(MCCC1):c.59A>G (p.His20Arg)
|
rs751663186
|
|
NM_020166.5(MCCC1):c.5C>A (p.Ala2Glu)
|
|
|
NM_020166.5(MCCC1):c.608T>C (p.Met203Thr)
|
rs1406515651
|
|
NM_020166.5(MCCC1):c.622C>T (p.Arg208Trp)
|
|
|
NM_020166.5(MCCC1):c.626G>A (p.Gly209Asp)
|
rs186209189
|
|
NM_020166.5(MCCC1):c.639+18_639+19insAAGATTGTGCATGCTTCCACCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA
|
|
|
NM_020166.5(MCCC1):c.639+6A>T
|
|
|
NM_020166.5(MCCC1):c.640_641delGG
|
rs886058209
|
|
NM_020166.5(MCCC1):c.649A>T (p.Ile217Phe)
|
|
|
NM_020166.5(MCCC1):c.68C>T (p.Pro23Leu)
|
|
|
NM_020166.5(MCCC1):c.700G>A (p.Glu234Lys)
|
rs2108525897
|
|
NM_020166.5(MCCC1):c.729T>C (p.Ala243=)
|
rs886058208
|
|
NM_020166.5(MCCC1):c.730A>G (p.Met244Val)
|
rs369227006
|
|
NM_020166.5(MCCC1):c.762G>C (p.Arg254Ser)
|
rs149389595
|
|
NM_020166.5(MCCC1):c.763C>A (p.His255Asn)
|
rs952365421
|
|
NM_020166.5(MCCC1):c.766G>A (p.Val256Ile)
|
|
|
NM_020166.5(MCCC1):c.768A>G (p.Val256=)
|
rs567236851
|
|
NM_020166.5(MCCC1):c.794A>G (p.His265Arg)
|
rs759707763
|
|
NM_020166.5(MCCC1):c.801T>A (p.Asn267Lys)
|
|
|
NM_020166.5(MCCC1):c.806T>C (p.Val269Ala)
|
rs1315920706
|
|
NM_020166.5(MCCC1):c.825C>A (p.Asp275Glu)
|
|
|
NM_020166.5(MCCC1):c.826T>G (p.Cys276Gly)
|
|
|
NM_020166.5(MCCC1):c.829A>G (p.Ser277Gly)
|
rs1715498129
|
|
NM_020166.5(MCCC1):c.830G>A (p.Ser277Asn)
|
rs2108505562
|
|
NM_020166.5(MCCC1):c.860A>G (p.Glu287Gly)
|
rs1267237320
|
|
NM_020166.5(MCCC1):c.872C>A (p.Ala291Glu)
|
rs201041864
|
|
NM_020166.5(MCCC1):c.873_873+3dup
|
rs2108505458
|
|
NM_020166.5(MCCC1):c.880A>G (p.Ile294Val)
|
|
|
NM_020166.5(MCCC1):c.916G>T (p.Ala306Ser)
|
rs1191290699
|
|
NM_020166.5(MCCC1):c.918A>C (p.Ala306=)
|
rs1715030459
|
|
NM_020166.5(MCCC1):c.925G>A (p.Ala309Thr)
|
rs1715029507
|
|
NM_020166.5(MCCC1):c.928G>C (p.Ala310Pro)
|
|
|
NM_020166.5(MCCC1):c.942T>A (p.Asn314Lys)
|
|
|
NM_020166.5(MCCC1):c.950G>C (p.Gly317Ala)
|
rs1577295874
|
|
NM_020166.5(MCCC1):c.950G>T (p.Gly317Val)
|
rs1577295874
|
|
NM_020166.5(MCCC1):c.955+6T>C
|
|
|
NM_020166.5(MCCC1):c.955G>A (p.Gly319Arg)
|
|
|
NM_020166.5(MCCC1):c.956G>A (p.Gly319Glu)
|
rs2108486818
|
|
NM_020166.5(MCCC1):c.984A>C (p.Lys328Asn)
|
|
|
NM_020166.5(MCCC1):c.994T>G (p.Cys332Gly)
|
rs886058207
|
|
NM_020184.4(CNNM4):c.731G>T (p.Cys244Phe)
|
rs1300890772
|
|
NM_020208.4(SLC6A20):c.1601T>G (p.Leu534Arg)
|
rs1553659698
|
|
NM_020208.4(SLC6A20):c.398C>T (p.Thr133Met)
|
rs145010504
|
|
NM_020208.4(SLC6A20):c.666T>A (p.Asn222Lys)
|
rs375971612
|
|
NM_020208.4(SLC6A20):c.74T>C (p.Leu25Pro)
|
rs763259500
|
|
NM_020686.5(ABAT):c.-150C>A
|
rs886052387
|
|
NM_020686.6(ABAT):c.*1051C>T
|
rs1275277312
|
|
NM_020686.6(ABAT):c.*1193G>T
|
rs755959210
|
|
NM_020686.6(ABAT):c.*1483G>T
|
rs139932869
|
|
NM_020686.6(ABAT):c.*1515_*1516dup
|
rs756127537
|
|
NM_020686.6(ABAT):c.*1516del
|
rs756127537
|
|
NM_020686.6(ABAT):c.*1593T>C
|
rs1061842
|
|
NM_020686.6(ABAT):c.*1698C>G
|
rs2060477590
|
|
NM_020686.6(ABAT):c.*1965C>T
|
rs553329538
|
|
NM_020686.6(ABAT):c.*1976C>A
|
rs886052443
|
|
NM_020686.6(ABAT):c.*1988C>T
|
rs886052444
|
|
NM_020686.6(ABAT):c.*2059C>A
|
rs2060484570
|
|
NM_020686.6(ABAT):c.*2308A>G
|
rs1039454012
|
|
NM_020686.6(ABAT):c.*259G>A
|
rs886052433
|
|
NM_020686.6(ABAT):c.*2698C>G
|
rs922229332
|
|
NM_020686.6(ABAT):c.*316A>C
|
rs1596475891
|
|
NM_020686.6(ABAT):c.*426C>T
|
rs2060446680
|
|
NM_020686.6(ABAT):c.*430C>T
|
rs886052434
|
|
NM_020686.6(ABAT):c.*578G>A
|
rs2060450686
|
|
NM_020686.6(ABAT):c.1004C>T (p.Thr335Met)
|
rs2060222738
|
|
NM_020686.6(ABAT):c.1027C>T (p.His343Tyr)
|
rs1280175936
|
|
NM_020686.6(ABAT):c.102A>C (p.Lys34Asn)
|
|
|
NM_020686.6(ABAT):c.1034G>A (p.Gly345Asp)
|
rs2142996825
|
|
NM_020686.6(ABAT):c.1036C>G (p.Leu346Val)
|
|
|
NM_020686.6(ABAT):c.1039G>A (p.Asp347Asn)
|
|
|
NM_020686.6(ABAT):c.1045C>T (p.Pro349Ser)
|
|
|
NM_020686.6(ABAT):c.1049C>A (p.Ala350Glu)
|
rs2060224233
|
|
NM_020686.6(ABAT):c.1058T>G (p.Met353Arg)
|
rs2060224524
|
|
NM_020686.6(ABAT):c.1075A>G (p.Met359Val)
|
rs2060225110
|
|
NM_020686.6(ABAT):c.1080G>A (p.Met360Ile)
|
rs2142996879
|
|
NM_020686.6(ABAT):c.108C>A (p.Asp36Glu)
|
rs751650520
|
|
NM_020686.6(ABAT):c.1092C>A (p.Phe364Leu)
|
|
|
NM_020686.6(ABAT):c.1123-14G>A
|
rs758870080
|
|
NM_020686.6(ABAT):c.1139A>G (p.Asn380Ser)
|
rs1555493454
|
|
NM_020686.6(ABAT):c.1140C>T (p.Asn380=)
|
rs770156912
|
|
NM_020686.6(ABAT):c.1148T>A (p.Leu383Gln)
|
rs2142998232
|
|
NM_020686.6(ABAT):c.1153G>T (p.Asp385Tyr)
|
rs2142998238
|
|
NM_020686.6(ABAT):c.1155C>A (p.Asp385Glu)
|
rs2142998239
|
|
NM_020686.6(ABAT):c.1163A>G (p.Lys388Arg)
|
|
|
NM_020686.6(ABAT):c.1168C>G (p.Leu390Val)
|
rs537999087
|
|
NM_020686.6(ABAT):c.1172T>C (p.Leu391Ser)
|
|
|
NM_020686.6(ABAT):c.1183G>A (p.Val395Ile)
|
rs1390975236
|
|
NM_020686.6(ABAT):c.1192A>C (p.Ile398Leu)
|
rs2060264213
|
|
NM_020686.6(ABAT):c.1208A>G (p.Asp403Gly)
|
rs1395351659
|
|
NM_020686.6(ABAT):c.1232C>A (p.Ala411Asp)
|
|
|
NM_020686.6(ABAT):c.1238A>G (p.Lys413Arg)
|
|
|
NM_020686.6(ABAT):c.1270G>A (p.Ala424Thr)
|
rs886052432
|
|
NM_020686.6(ABAT):c.1273C>T (p.Arg425Trp)
|
|
|
NM_020686.6(ABAT):c.1274G>T (p.Arg425Leu)
|
rs368127499
|
|
NM_020686.6(ABAT):c.1287C>A (p.Phe429Leu)
|
rs772526517
|
|
NM_020686.6(ABAT):c.1323del (p.Phe442fs)
|
rs2060370206
|
|
NM_020686.6(ABAT):c.1324T>G (p.Phe442Val)
|
rs2143002786
|
|
NM_020686.6(ABAT):c.1326C>A (p.Phe442Leu)
|
rs201566019
|
|
NM_020686.6(ABAT):c.1327G>C (p.Asp443His)
|
|
|
NM_020686.6(ABAT):c.1333C>T (p.Pro445Ser)
|
rs1345863425
|
|
NM_020686.6(ABAT):c.1336G>A (p.Asp446Asn)
|
|
|
NM_020686.6(ABAT):c.1354A>T (p.Lys452Ter)
|
rs1596474539
|
|
NM_020686.6(ABAT):c.1356G>T (p.Lys452Asn)
|
rs1219517329
|
|
NM_020686.6(ABAT):c.1363T>G (p.Leu455Val)
|
rs1555493999
|
|
NM_020686.6(ABAT):c.1366A>G (p.Ile456Val)
|
rs1485966037
|
|
NM_020686.6(ABAT):c.1367T>C (p.Ile456Thr)
|
|
|
NM_020686.6(ABAT):c.1369G>A (p.Ala457Thr)
|
|
|
NM_020686.6(ABAT):c.1370C>T (p.Ala457Val)
|
rs769027199
|
|
NM_020686.6(ABAT):c.1381+1G>T
|
|
|
NM_020686.6(ABAT):c.1381+6G>T
|
rs777241102
|
|
NM_020686.6(ABAT):c.1384G>A (p.Val462Met)
|
|
|
NM_020686.6(ABAT):c.1389G>A (p.Val463=)
|
rs2060432508
|
|
NM_020686.6(ABAT):c.1407C>G (p.Asp469Glu)
|
|
|
NM_020686.6(ABAT):c.1410_1411delinsGA (p.Ser471Thr)
|
rs1596475613
|
|
NM_020686.6(ABAT):c.1421T>G (p.Phe474Cys)
|
rs1280757572
|
|
NM_020686.6(ABAT):c.1423C>T (p.Arg475Cys)
|
|
|
NM_020686.6(ABAT):c.1435G>T (p.Val479Phe)
|
rs1555494309
|
|
NM_020686.6(ABAT):c.143C>T (p.Thr48Met)
|
|
|
NM_020686.6(ABAT):c.1449C>A (p.His483Gln)
|
|
|
NM_020686.6(ABAT):c.1454C>G (p.Ala485Gly)
|
|
|
NM_020686.6(ABAT):c.1459C>G (p.Leu487Val)
|
|
|
NM_020686.6(ABAT):c.1492G>A (p.Asp498Asn)
|
|
|
NM_020686.6(ABAT):c.1498A>G (p.Lys500Glu)
|
|
|
NM_020686.6(ABAT):c.14T>G (p.Leu5Trp)
|
rs1346245434
|
|
NM_020686.6(ABAT):c.1501_*2del (p.Ter501LysextTer?)
|
rs756457894
|
|
NM_020686.6(ABAT):c.163T>C (p.Ser55Pro)
|
rs2059320233
|
|
NM_020686.6(ABAT):c.168+5G>T
|
rs539641450
|
|
NM_020686.6(ABAT):c.168+6T>A
|
rs2059320859
|
|
NM_020686.6(ABAT):c.169-5T>A
|
|
|
NM_020686.6(ABAT):c.199A>T (p.Asn67Tyr)
|
|
|
NM_020686.6(ABAT):c.1A>G (p.Met1Val)
|
rs1160815812
|
|
NM_020686.6(ABAT):c.208G>T (p.Ala70Ser)
|
rs540109350
|
|
NM_020686.6(ABAT):c.214C>A (p.His72Asn)
|
|
|
NM_020686.6(ABAT):c.224G>T (p.Cys75Phe)
|
|
|
NM_020686.6(ABAT):c.226A>G (p.Asn76Asp)
|
|
|
NM_020686.6(ABAT):c.236A>T (p.Glu79Val)
|
rs1596454363
|
|
NM_020686.6(ABAT):c.307G>T (p.Val103Phe)
|
rs2142726624
|
|
NM_020686.6(ABAT):c.314T>C (p.Ile105Thr)
|
rs1596454443
|
|
NM_020686.6(ABAT):c.317-5C>G
|
rs781499078
|
|
NM_020686.6(ABAT):c.323G>A (p.Ser108Asn)
|
|
|
NM_020686.6(ABAT):c.328C>T (p.Pro110Ser)
|
rs2142848668
|
|
NM_020686.6(ABAT):c.332C>A (p.Ala111Asp)
|
rs771274821
|
|
NM_020686.6(ABAT):c.366G>A (p.Ala122=)
|
rs866554267
|
|
NM_020686.6(ABAT):c.42C>G (p.Phe14Leu)
|
rs1567293995
|
|
NM_020686.6(ABAT):c.434A>T (p.Gln145Leu)
|
|
|
NM_020686.6(ABAT):c.437C>T (p.Ser146Phe)
|
|
|
NM_020686.6(ABAT):c.441G>C (p.Leu147Phe)
|
rs747914194
|
|
NM_020686.6(ABAT):c.442C>T (p.Leu148Phe)
|
|
|
NM_020686.6(ABAT):c.446C>G (p.Ser149Trp)
|
rs374113959
|
|
NM_020686.6(ABAT):c.446C>T (p.Ser149Leu)
|
rs374113959
|
|
NM_020686.6(ABAT):c.447G>A (p.Ser149=)
|
|
|
NM_020686.6(ABAT):c.447G>C (p.Ser149=)
|
rs376531387
|
|
NM_020686.6(ABAT):c.447G>T (p.Ser149=)
|
rs376531387
|
|
NM_020686.6(ABAT):c.448-18C>T
|
rs2142927888
|
|
NM_020686.6(ABAT):c.458A>G (p.Lys153Arg)
|
rs2142928367
|
|
NM_020686.6(ABAT):c.493T>G (p.Ser165Ala)
|
|
|
NM_020686.6(ABAT):c.502A>G (p.Asn168Asp)
|
rs1596464782
|
|
NM_020686.6(ABAT):c.503A>G (p.Asn168Ser)
|
rs757056947
|
|
NM_020686.6(ABAT):c.531G>A (p.Met177Ile)
|
|
|
NM_020686.6(ABAT):c.539G>A (p.Arg180Gln)
|
rs776431473
|
|
NM_020686.6(ABAT):c.540+14CA[13]
|
rs35745596
|
|
NM_020686.6(ABAT):c.540+14CA[14]
|
rs35745596
|
|
NM_020686.6(ABAT):c.540+5G>T
|
rs2059896686
|
|
NM_020686.6(ABAT):c.55C>A (p.Arg19Ser)
|
rs77696190
|
|
NM_020686.6(ABAT):c.560G>C (p.Arg187Thr)
|
rs1156477140
|
|
NM_020686.6(ABAT):c.563G>C (p.Gly188Ala)
|
|
|
NM_020686.6(ABAT):c.56G>T (p.Arg19Leu)
|
rs780368959
|
|
NM_020686.6(ABAT):c.583G>C (p.Glu195Gln)
|
rs1596465746
|
|
NM_020686.6(ABAT):c.589T>A (p.Cys197Ser)
|
rs1567311566
|
|
NM_020686.6(ABAT):c.604G>T (p.Ala202Ser)
|
rs756890572
|
|
NM_020686.6(ABAT):c.61C>G (p.Leu21Val)
|
|
|
NM_020686.6(ABAT):c.625A>G (p.Ser209Gly)
|
rs2060001644
|
|
NM_020686.6(ABAT):c.643G>A (p.Gly215Ser)
|
rs762050203
|
|
NM_020686.6(ABAT):c.645C>A (p.Gly215=)
|
rs1139522
|
|
NM_020686.6(ABAT):c.645C>T (p.Gly215=)
|
rs1139522
|
|
NM_020686.6(ABAT):c.646G>A (p.Ala216Thr)
|
|
|
NM_020686.6(ABAT):c.64_66del (p.Val22del)
|
rs1412155029
|
|
NM_020686.6(ABAT):c.65T>A (p.Val22Glu)
|
|
|
NM_020686.6(ABAT):c.665T>C (p.Met222Thr)
|
|
|
NM_020686.6(ABAT):c.667+7_667+8dup
|
rs748783252
|
|
NM_020686.6(ABAT):c.677C>G (p.Ala226Gly)
|
|
|
NM_020686.6(ABAT):c.677C>T (p.Ala226Val)
|
rs372807667
|
|
NM_020686.6(ABAT):c.683C>T (p.Thr228Met)
|
rs1174585175
|
|
NM_020686.6(ABAT):c.689C>G (p.Ser230Cys)
|
|
|
NM_020686.6(ABAT):c.68C>A (p.Pro23His)
|
rs369376388
|
|
NM_020686.6(ABAT):c.693A>T (p.Lys231Asn)
|
|
|
NM_020686.6(ABAT):c.70+6C>A
|
rs369944447
|
|
NM_020686.6(ABAT):c.706A>G (p.Ile236Val)
|
rs2142977210
|
|
NM_020686.6(ABAT):c.70G>A (p.Gly24Arg)
|
|
|
NM_020686.6(ABAT):c.731C>T (p.Pro244Leu)
|
|
|
NM_020686.6(ABAT):c.733A>G (p.Ile245Val)
|
|
|
NM_020686.6(ABAT):c.736G>C (p.Ala246Pro)
|
rs768632370
|
|
NM_020686.6(ABAT):c.748C>G (p.Arg250Gly)
|
|
|
NM_020686.6(ABAT):c.749G>A (p.Arg250Gln)
|
rs375002262
|
|
NM_020686.6(ABAT):c.749G>T (p.Arg250Leu)
|
rs375002262
|
|
NM_020686.6(ABAT):c.74C>G (p.Ser25Cys)
|
|
|
NM_020686.6(ABAT):c.761C>T (p.Pro254Leu)
|
rs2060022335
|
|
NM_020686.6(ABAT):c.772T>C (p.Phe258Leu)
|
rs1179196079
|
|
NM_020686.6(ABAT):c.77G>C (p.Arg26Thr)
|
rs2142623083
|
|
NM_020686.6(ABAT):c.79C>A (p.His27Asn)
|
|
|
NM_020686.6(ABAT):c.806G>A (p.Cys269Tyr)
|
|
|
NM_020686.6(ABAT):c.842G>A (p.Arg281Gln)
|
|
|
NM_020686.6(ABAT):c.844A>G (p.Lys282Glu)
|
rs2142993736
|
|
NM_020686.6(ABAT):c.848AGA[2] (p.Lys285del)
|
rs748632743
|
|
NM_020686.6(ABAT):c.866_874dup (p.Gly289_Ile291dup)
|
rs2060152853
|
|
NM_020686.6(ABAT):c.871A>G (p.Ile291Val)
|
|
|
NM_020686.6(ABAT):c.892G>A (p.Glu298Lys)
|
rs1443323102
|
|
NM_020686.6(ABAT):c.938G>C (p.Arg313Thr)
|
rs2142993864
|
|
NM_020686.6(ABAT):c.957T>G (p.His319Gln)
|
rs886052431
|
|
NM_020686.6(ABAT):c.959G>T (p.Gly320Val)
|
|
|
NM_020686.6(ABAT):c.972G>T (p.Leu324Phe)
|
|
|
NM_020686.6(ABAT):c.979G>A (p.Glu327Lys)
|
|
|
NM_020686.6(ABAT):c.997G>C (p.Gly333Arg)
|
|
|
NM_020949.3(SLC7A14):c.1168G>C (p.Val390Leu)
|
rs142416793
|
|
NM_021072.4(HCN1):c.1012-3C>T
|
rs1739694635
|
|
NM_021072.4(HCN1):c.1139T>A (p.Ile380Asn)
|
|
|
NM_021072.4(HCN1):c.1183G>A (p.Ala395Thr)
|
rs1739691061
|
|
NM_021072.4(HCN1):c.1377+19834C>T
|
rs761223261
|
|
NM_021072.4(HCN1):c.1646G>A (p.Arg549His)
|
|
|
NM_021072.4(HCN1):c.1753A>T (p.Thr585Ser)
|
rs1561081327
|
|
NM_021072.4(HCN1):c.192_206dup (p.Gly70_Gly74dup)
|
rs1485709375
|
|
NM_021072.4(HCN1):c.1948A>C (p.Thr650Pro)
|
rs776850213
|
|
NM_021072.4(HCN1):c.2019G>A (p.Leu673=)
|
rs767602409
|
|
NM_021072.4(HCN1):c.203GCG[6] (p.Gly74del)
|
rs747975797
|
|
NM_021072.4(HCN1):c.2165C>T (p.Pro722Leu)
|
rs2111839334
|
|
NM_021072.4(HCN1):c.282G>A (p.Met94Ile)
|
rs748665278
|
|
NM_021072.4(HCN1):c.74C>A (p.Ala25Glu)
|
rs1469192494
|
|
NM_021072.4(HCN1):c.849+66420G>T
|
rs986310668
|
|
NM_021072.4(HCN1):c.928C>T (p.His310Tyr)
|
rs2111627182
|
|
NM_021800.3(DNAJC12):c.124C>T (p.His42Tyr)
|
rs1055578473
|
|
NM_022132.4(MCCC2):c.1367_1368inv (p.Ala456Val)
|
|
|
NM_022132.5(MCCC2):c.*1591A>C
|
rs1388895100
|
|
NM_022132.5(MCCC2):c.*1650G>A
|
rs902451036
|
|
NM_022132.5(MCCC2):c.*16T>A
|
rs1747596046
|
|
NM_022132.5(MCCC2):c.*246A>G
|
rs965261367
|
|
NM_022132.5(MCCC2):c.*700G>T
|
rs972036465
|
|
NM_022132.5(MCCC2):c.*843A>C
|
rs1747622599
|
|
NM_022132.5(MCCC2):c.*940C>G
|
rs886060746
|
|
NM_022132.5(MCCC2):c.1010G>C (p.Arg337Thr)
|
rs980603424
|
|
NM_022132.5(MCCC2):c.103C>A (p.Pro35Thr)
|
|
|
NM_022132.5(MCCC2):c.1055G>T (p.Gly352Val)
|
|
|
NM_022132.5(MCCC2):c.1073-27T>C
|
|
|
NM_022132.5(MCCC2):c.1073-9T>C
|
|
|
NM_022132.5(MCCC2):c.1082G>A (p.Arg361Gln)
|
rs991211481
|
|
NM_022132.5(MCCC2):c.1100T>C (p.Val367Ala)
|
|
|
NM_022132.5(MCCC2):c.1153A>G (p.Thr385Ala)
|
|
|
NM_022132.5(MCCC2):c.1159T>G (p.Phe387Val)
|
|
|
NM_022132.5(MCCC2):c.1171T>C (p.Cys391Arg)
|
rs781478040
|
|
NM_022132.5(MCCC2):c.1181G>T (p.Arg394Ile)
|
rs531994517
|
|
NM_022132.5(MCCC2):c.1192C>G (p.Leu398Val)
|
|
|
NM_022132.5(MCCC2):c.1196T>A (p.Leu399Gln)
|
rs2112463776
|
|
NM_022132.5(MCCC2):c.1225G>A (p.Val409Ile)
|
rs1373747202
|
|
NM_022132.5(MCCC2):c.122T>G (p.Leu41Arg)
|
|
|
NM_022132.5(MCCC2):c.1235A>C (p.Glu412Ala)
|
rs371587906
|
|
NM_022132.5(MCCC2):c.1235A>G (p.Glu412Gly)
|
rs371587906
|
|
NM_022132.5(MCCC2):c.125A>G (p.Tyr42Cys)
|
rs1580262373
|
|
NM_022132.5(MCCC2):c.1273A>G (p.Met425Val)
|
rs766591766
|
|
NM_022132.5(MCCC2):c.1275G>A (p.Met425Ile)
|
rs1747359594
|
|
NM_022132.5(MCCC2):c.1285G>C (p.Val429Leu)
|
rs2112467816
|
|
NM_022132.5(MCCC2):c.129G>A (p.Gln43=)
|
rs1580262388
|
|
NM_022132.5(MCCC2):c.1304C>G (p.Pro435Arg)
|
|
|
NM_022132.5(MCCC2):c.1331C>A (p.Ser444Tyr)
|
|
|
NM_022132.5(MCCC2):c.1407dup (p.Ile470fs)
|
rs1561848250
|
|
NM_022132.5(MCCC2):c.1438A>G (p.Asn480Asp)
|
rs201060452
|
|
NM_022132.5(MCCC2):c.1471G>A (p.Ala491Thr)
|
|
|
NM_022132.5(MCCC2):c.1489-3T>A
|
|
|
NM_022132.5(MCCC2):c.1493C>T (p.Ser498Phe)
|
|
|
NM_022132.5(MCCC2):c.1501G>A (p.Asp501Asn)
|
rs1391085331
|
|
NM_022132.5(MCCC2):c.152C>T (p.Ala51Val)
|
|
|
NM_022132.5(MCCC2):c.1553A>G (p.Asn518Ser)
|
rs1747471598
|
|
NM_022132.5(MCCC2):c.1554C>A (p.Asn518Lys)
|
rs2112472855
|
|
NM_022132.5(MCCC2):c.1559A>C (p.Tyr520Ser)
|
rs150327768
|
|
NM_022132.5(MCCC2):c.1565C>T (p.Ser522Phe)
|
rs1747472048
|
|
NM_022132.5(MCCC2):c.1567A>G (p.Ser523Gly)
|
rs1459143051
|
|
NM_022132.5(MCCC2):c.1570G>A (p.Ala524Thr)
|
|
|
NM_022132.5(MCCC2):c.1570G>C (p.Ala524Pro)
|
rs774241918
|
|
NM_022132.5(MCCC2):c.1572A>T (p.Ala524=)
|
rs886060738
|
|
NM_022132.5(MCCC2):c.1574+3G>T
|
|
|
NM_022132.5(MCCC2):c.1574+5G>T
|
rs781483923
|
|
NM_022132.5(MCCC2):c.1583A>G (p.Asp528Gly)
|
rs1747591661
|
|
NM_022132.5(MCCC2):c.1590_1591delinsTT (p.Ile531Phe)
|
rs2112478243
|
|
NM_022132.5(MCCC2):c.1601C>G (p.Pro534Arg)
|
|
|
NM_022132.5(MCCC2):c.1631G>A (p.Ser544Asn)
|
|
|
NM_022132.5(MCCC2):c.1635dup (p.Ser546Ter)
|
rs768272570
|
|
NM_022132.5(MCCC2):c.1639G>A (p.Ala547Thr)
|
rs758806872
|
|
NM_022132.5(MCCC2):c.1651G>A (p.Ala551Thr)
|
|
|
NM_022132.5(MCCC2):c.1670A>C (p.Asp557Ala)
|
|
|
NM_022132.5(MCCC2):c.1672T>C (p.Phe558Leu)
|
rs2112478390
|
|
NM_022132.5(MCCC2):c.1674del (p.Phe558fs)
|
rs1747594910
|
|
NM_022132.5(MCCC2):c.170A>G (p.His57Arg)
|
|
|
NM_022132.5(MCCC2):c.176G>A (p.Arg59Gln)
|
|
|
NM_022132.5(MCCC2):c.185A>G (p.His62Arg)
|
rs1745040815
|
|
NM_022132.5(MCCC2):c.196+3A>G
|
rs751519858
|
|
NM_022132.5(MCCC2):c.197-9C>G
|
rs2112293394
|
|
NM_022132.5(MCCC2):c.226A>T (p.Ile76Leu)
|
rs140027063
|
|
NM_022132.5(MCCC2):c.248C>G (p.Pro83Arg)
|
rs1414470105
|
|
NM_022132.5(MCCC2):c.250A>G (p.Arg84Gly)
|
rs1745187009
|
|
NM_022132.5(MCCC2):c.281+5G>T
|
|
|
NM_022132.5(MCCC2):c.284C>T (p.Ser95Phe)
|
|
|
NM_022132.5(MCCC2):c.286C>G (p.Pro96Ala)
|
rs770208071
|
|
NM_022132.5(MCCC2):c.295G>A (p.Glu99Lys)
|
rs119103219
|
|
NM_022132.5(MCCC2):c.332A>G (p.Asn111Ser)
|
|
|
NM_022132.5(MCCC2):c.335AGG[1] (p.Glu113del)
|
|
|
NM_022132.5(MCCC2):c.351_353del (p.Gly118del)
|
rs758794885
|
|
NM_022132.5(MCCC2):c.365G>A (p.Gly122Asp)
|
|
|
NM_022132.5(MCCC2):c.383+4A>G
|
rs1745349543
|
|
NM_022132.5(MCCC2):c.38C>G (p.Ala13Gly)
|
|
|
NM_022132.5(MCCC2):c.396G>A (p.Met132Ile)
|
|
|
NM_022132.5(MCCC2):c.422A>G (p.Lys141Arg)
|
|
|
NM_022132.5(MCCC2):c.430G>T (p.Ala144Ser)
|
rs1468231692
|
|
NM_022132.5(MCCC2):c.433T>C (p.Tyr145His)
|
rs1745481314
|
|
NM_022132.5(MCCC2):c.433T>G (p.Tyr145Asp)
|
rs1745481314
|
|
NM_022132.5(MCCC2):c.437A>G (p.Tyr146Cys)
|
rs2112320371
|
|
NM_022132.5(MCCC2):c.438C>T (p.Tyr146=)
|
rs1745482068
|
|
NM_022132.5(MCCC2):c.455A>C (p.Lys152Thr)
|
rs1554134065
|
|
NM_022132.5(MCCC2):c.457C>A (p.Gln153Lys)
|
|
|
NM_022132.5(MCCC2):c.479C>G (p.Ala160Gly)
|
rs2112320728
|
|
NM_022132.5(MCCC2):c.544G>A (p.Ala182Thr)
|
|
|
NM_022132.5(MCCC2):c.554T>C (p.Phe185Ser)
|
|
|
NM_022132.5(MCCC2):c.557_560delinsTTGTCGAGGTAAGTGT (p.Pro186_Asp187delinsLeuValGluValSerVal)
|
rs797044772
|
|
NM_022132.5(MCCC2):c.560A>G (p.Asp187Gly)
|
|
|
NM_022132.5(MCCC2):c.567C>A (p.Asp189Glu)
|
rs575600077
|
|
NM_022132.5(MCCC2):c.583T>C (p.Phe195Leu)
|
|
|
NM_022132.5(MCCC2):c.598A>G (p.Ile200Val)
|
rs2112329325
|
|
NM_022132.5(MCCC2):c.617T>C (p.Ile206Thr)
|
rs1745586663
|
|
NM_022132.5(MCCC2):c.619G>T (p.Ala207Ser)
|
rs2112329415
|
|
NM_022132.5(MCCC2):c.625-11T>C
|
|
|
NM_022132.5(MCCC2):c.632T>G (p.Val211Gly)
|
|
|
NM_022132.5(MCCC2):c.670C>A (p.Pro224Thr)
|
|
|
NM_022132.5(MCCC2):c.703A>G (p.Lys235Glu)
|
|
|
NM_022132.5(MCCC2):c.728G>C (p.Gly243Ala)
|
rs770351523
|
|
NM_022132.5(MCCC2):c.72C>G (p.His24Gln)
|
rs374686220
|
|
NM_022132.5(MCCC2):c.738+2dup
|
rs2112412775
|
|
NM_022132.5(MCCC2):c.738+6A>G
|
|
|
NM_022132.5(MCCC2):c.748G>A (p.Ala250Thr)
|
|
|
NM_022132.5(MCCC2):c.793C>G (p.Leu265Val)
|
|
|
NM_022132.5(MCCC2):c.794T>C (p.Leu265Pro)
|
rs1746740255
|
|
NM_022132.5(MCCC2):c.802A>G (p.Arg268Gly)
|
rs756477001
|
|
NM_022132.5(MCCC2):c.803+6A>G
|
|
|
NM_022132.5(MCCC2):c.811G>A (p.Gly271Arg)
|
rs2112437351
|
|
NM_022132.5(MCCC2):c.848C>T (p.Ala283Val)
|
|
|
NM_022132.5(MCCC2):c.903+4A>T
|
|
|
NM_022132.5(MCCC2):c.914A>G (p.Glu305Gly)
|
rs757389984
|
|
NM_022132.5(MCCC2):c.940G>A (p.Ala314Thr)
|
rs2112438294
|
|
NM_022132.5(MCCC2):c.955G>A (p.Gly319Arg)
|
rs1443551700
|
|
NM_022132.5(MCCC2):c.962T>C (p.Val321Ala)
|
|
|
NM_022132.5(MCCC2):c.973C>T (p.Leu325Phe)
|
rs2112438464
|
|
NM_022132.5(MCCC2):c.986T>C (p.Phe329Ser)
|
rs2112438533
|
|
NM_022132.5(MCCC2):c.98C>T (p.Thr33Ile)
|
rs2112251506
|
|
NM_022132.5(MCCC2):c.999G>T (p.Glu333Asp)
|
rs1487531101
|
|
NM_022367.4(SEMA4A):c.*181C>T
|
rs886045368
|
|
NM_022367.4(SEMA4A):c.*334C>T
|
rs148852472
|
|
NM_022367.4(SEMA4A):c.*371T>C
|
rs886045369
|
|
NM_022367.4(SEMA4A):c.*485G>A
|
rs542774465
|
|
NM_022367.4(SEMA4A):c.*687T>A
|
rs755447780
|
|
NM_022367.4(SEMA4A):c.*711A>C
|
rs886045371
|
|
NM_022367.4(SEMA4A):c.1064_1065del (p.Lys355fs)
|
|
|
NM_022367.4(SEMA4A):c.1196A>T (p.Asp399Val)
|
rs727504147
|
|
NM_022367.4(SEMA4A):c.1258G>A (p.Val420Met)
|
rs1654945793
|
|
NM_022367.4(SEMA4A):c.1337C>T (p.Ala446Val)
|
rs886045366
|
|
NM_022367.4(SEMA4A):c.1783C>T (p.Pro595Ser)
|
rs1286943189
|
|
NM_022367.4(SEMA4A):c.2114C>T (p.Ser705Phe)
|
rs1655387711
|
|
NM_022367.4(SEMA4A):c.2134G>A (p.Ala712Thr)
|
rs772819214
|
|
NM_022367.4(SEMA4A):c.2167C>A (p.Arg723Ser)
|
rs199933282
|
|
NM_022367.4(SEMA4A):c.2175_2176dup (p.Glu726fs)
|
rs780625314
|
|
NM_022367.4(SEMA4A):c.332G>A (p.Ser111Asn)
|
|
|
NM_022367.4(SEMA4A):c.807C>A (p.Cys269Ter)
|
|
|
NM_022367.4(SEMA4A):c.810+7G>A
|
rs568949451
|
|
NM_022367.4(SEMA4A):c.937G>T (p.Asp313Tyr)
|
rs1461418667
|
|
NM_022367.4(SEMA4A):c.94G>T (p.Gly32Trp)
|
|
|
NM_024818.6(UBA5):c.290T>C (p.Ile97Thr)
|
|
|
NM_024818.6(UBA5):c.907T>C (p.Cys303Arg)
|
rs1553770577
|
|
NM_025114.4(CEP290):c.2390del (p.Lys797fs)
|
rs781670422
|
|
NM_025114.4(CEP290):c.4705-2A>C
|
rs2137170380
|
|
NM_025136.3(OPA3):c.-48_-41delCGCCCCGC
|
rs886054542
|
|
NM_025136.4(OPA3):c.*1076A>G
|
rs886054533
|
|
NM_025136.4(OPA3):c.*1254A>C
|
rs886054532
|
|
NM_025136.4(OPA3):c.*1478A>G
|
rs886054531
|
|
NM_025136.4(OPA3):c.*1761A>T
|
rs141446737
|
|
NM_025136.4(OPA3):c.*2188G>A
|
rs1969330324
|
|
NM_025136.4(OPA3):c.*2198C>T
|
rs1969330113
|
|
NM_025136.4(OPA3):c.*2590G>T
|
rs886054527
|
|
NM_025136.4(OPA3):c.*2662G>A
|
rs1969322157
|
|
NM_025136.4(OPA3):c.*2702G>T
|
rs886054526
|
|
NM_025136.4(OPA3):c.*2726G>C
|
rs993813343
|
|
NM_025136.4(OPA3):c.*2859A>T
|
rs534780094
|
|
NM_025136.4(OPA3):c.*2896G>A
|
rs190488484
|
|
NM_025136.4(OPA3):c.*2964T>C
|
rs1969317127
|
|
NM_025136.4(OPA3):c.*302C>T
|
rs886054540
|
|
NM_025136.4(OPA3):c.*3156G>T
|
rs1969314043
|
|
NM_025136.4(OPA3):c.*3245C>T
|
rs1969312880
|
|
NM_025136.4(OPA3):c.*324GT[1]
|
rs571672143
|
|
NM_025136.4(OPA3):c.*3295C>G
|
rs1969311980
|
|
NM_025136.4(OPA3):c.*3358C>G
|
rs965480314
|
|
NM_025136.4(OPA3):c.*3496C>G
|
rs749084024
|
|
NM_025136.4(OPA3):c.*3570C>T
|
rs1969307390
|
|
NM_025136.4(OPA3):c.*3669G>T
|
rs1024454874
|
|
NM_025136.4(OPA3):c.*3804G>A
|
rs890552307
|
|
NM_025136.4(OPA3):c.*4026del
|
rs879119658
|
|
NM_025136.4(OPA3):c.*4026dup
|
rs879119658
|
|
NM_025136.4(OPA3):c.*4241C>T
|
rs375276027
|
|
NM_025136.4(OPA3):c.*4419C>T
|
rs886054523
|
|
NM_025136.4(OPA3):c.*4696ATAA[6]
|
rs58537694
|
|
NM_025136.4(OPA3):c.*4696ATAA[8]
|
rs58537694
|
|
NM_025136.4(OPA3):c.*4696ATAA[9]
|
rs58537694
|
|
NM_025136.4(OPA3):c.*4712del
|
rs886054518
|
|
NM_025136.4(OPA3):c.*4771C>G
|
rs972332094
|
|
NM_025136.4(OPA3):c.*4862_*4865del
|
rs886054515
|
|
NM_025136.4(OPA3):c.*4969C>G
|
rs886054513
|
|
NM_025136.4(OPA3):c.*4975C>T
|
rs567309052
|
|
NM_025136.4(OPA3):c.*50_*52del
|
rs886054541
|
|
NM_025136.4(OPA3):c.*545G>T
|
rs886054538
|
|
NM_025136.4(OPA3):c.*5774G>C
|
rs886054510
|
|
NM_025136.4(OPA3):c.*5774G>T
|
rs886054510
|
|
NM_025136.4(OPA3):c.*6289A>G
|
rs182293743
|
|
NM_025136.4(OPA3):c.*6766C>T
|
rs978118927
|
|
NM_025136.4(OPA3):c.*690G>T
|
rs1969355536
|
|
NM_025136.4(OPA3):c.*7096_*7100del
|
rs565521231
|
|
NM_025136.4(OPA3):c.*713C>G
|
rs143735864
|
|
NM_025136.4(OPA3):c.*986dup
|
rs377547137
|
|
NM_025136.4(OPA3):c.115A>G (p.Thr39Ala)
|
|
|
NM_025136.4(OPA3):c.121A>G (p.Ile41Val)
|
|
|
NM_025136.4(OPA3):c.127C>G (p.Leu43Val)
|
rs2122529195
|
|
NM_025136.4(OPA3):c.131C>T (p.Pro44Leu)
|
rs2122529178
|
|
NM_025136.4(OPA3):c.136G>A (p.Ala46Thr)
|
|
|
NM_025136.4(OPA3):c.142+2_142+3dup
|
rs1555736791
|
|
NM_025136.4(OPA3):c.142+3_142+6del
|
|
|
NM_025136.4(OPA3):c.142+4A>T
|
rs765495449
|
|
NM_025136.4(OPA3):c.142+5G>C
|
rs1250409781
|
|
NM_025136.4(OPA3):c.145T>C (p.Tyr49His)
|
rs1384629048
|
|
NM_025136.4(OPA3):c.170A>G (p.Lys57Arg)
|
|
|
NM_025136.4(OPA3):c.17T>C (p.Phe6Ser)
|
rs2122529643
|
|
NM_025136.4(OPA3):c.182T>C (p.Met61Thr)
|
rs1052079541
|
|
NM_025136.4(OPA3):c.201del (p.Ile68fs)
|
|
|
NM_025136.4(OPA3):c.206A>C (p.Lys69Thr)
|
rs760083523
|
|
NM_025136.4(OPA3):c.206_258del (p.Lys69fs)
|
rs2122440115
|
|
NM_025136.4(OPA3):c.212T>C (p.Leu71Pro)
|
|
|
NM_025136.4(OPA3):c.217dup (p.Glu73fs)
|
rs1555732963
|
|
NM_025136.4(OPA3):c.220G>A (p.Glu74Lys)
|
|
|
NM_025136.4(OPA3):c.220G>T (p.Glu74Ter)
|
|
|
NM_025136.4(OPA3):c.226G>T (p.Ala76Ser)
|
|
|
NM_025136.4(OPA3):c.238G>A (p.Gly80Ser)
|
|
|
NM_025136.4(OPA3):c.239G>T (p.Gly80Val)
|
rs2122440257
|
|
NM_025136.4(OPA3):c.23T>C (p.Met8Thr)
|
|
|
NM_025136.4(OPA3):c.244G>T (p.Glu82Ter)
|
|
|
NM_025136.4(OPA3):c.248_251dup (p.Gly85fs)
|
rs1555732942
|
|
NM_025136.4(OPA3):c.24G>A (p.Met8Ile)
|
|
|
NM_025136.4(OPA3):c.253G>C (p.Gly85Arg)
|
|
|
NM_025136.4(OPA3):c.254G>A (p.Gly85Asp)
|
rs1599964721
|
|
NM_025136.4(OPA3):c.256G>A (p.Glu86Lys)
|
|
|
NM_025136.4(OPA3):c.25G>A (p.Ala9Thr)
|
|
|
NM_025136.4(OPA3):c.265A>G (p.Ile89Val)
|
|
|
NM_025136.4(OPA3):c.274G>A (p.Val92Met)
|
rs752893027
|
|
NM_025136.4(OPA3):c.275T>C (p.Val92Ala)
|
|
|
NM_025136.4(OPA3):c.289C>G (p.Leu97Val)
|
|
|
NM_025136.4(OPA3):c.293T>G (p.Val98Gly)
|
rs967310075
|
|
NM_025136.4(OPA3):c.296T>G (p.Leu99Arg)
|
rs1555732924
|
|
NM_025136.4(OPA3):c.2TGG[2] (p.Val3del)
|
rs1555736840
|
|
NM_025136.4(OPA3):c.304T>G (p.Trp102Gly)
|
|
|
NM_025136.4(OPA3):c.30G>C (p.Lys10Asn)
|
|
|
NM_025136.4(OPA3):c.313C>A (p.Gln105Lys)
|
rs80356525
|
|
NM_025136.4(OPA3):c.313C>T (p.Gln105Ter)
|
|
|
NM_025136.4(OPA3):c.316G>A (p.Ala106Thr)
|
|
|
NM_025136.4(OPA3):c.317C>T (p.Ala106Val)
|
rs764633370
|
|
NM_025136.4(OPA3):c.331_333del (p.Lys111del)
|
rs1353357190
|
|
NM_025136.4(OPA3):c.334del (p.Glu112fs)
|
rs1555732911
|
|
NM_025136.4(OPA3):c.337G>A (p.Glu113Lys)
|
|
|
NM_025136.4(OPA3):c.34C>G (p.Leu12Val)
|
|
|
NM_025136.4(OPA3):c.352G>C (p.Ala118Pro)
|
|
|
NM_025136.4(OPA3):c.360C>A (p.Asn120Lys)
|
|
|
NM_025136.4(OPA3):c.362C>T (p.Ala121Val)
|
|
|
NM_025136.4(OPA3):c.368_369delinsCT (p.Arg123Pro)
|
|
|
NM_025136.4(OPA3):c.373G>C (p.Glu125Gln)
|
|
|
NM_025136.4(OPA3):c.374A>T (p.Glu125Val)
|
|
|
NM_025136.4(OPA3):c.380G>A (p.Gly127Asp)
|
|
|
NM_025136.4(OPA3):c.383_385dup (p.His128_Leu129insHis)
|
|
|
NM_025136.4(OPA3):c.392T>A (p.Leu131Gln)
|
|
|
NM_025136.4(OPA3):c.395C>A (p.Ala132Glu)
|
rs758982194
|
|
NM_025136.4(OPA3):c.395C>T (p.Ala132Val)
|
|
|
NM_025136.4(OPA3):c.40T>G (p.Leu14Val)
|
|
|
NM_025136.4(OPA3):c.410A>C (p.Gln137Pro)
|
rs372161100
|
|
NM_025136.4(OPA3):c.417G>C (p.Gln139His)
|
|
|
NM_025136.4(OPA3):c.419_424dup (p.Val140_Gln141dup)
|
rs1363616568
|
|
NM_025136.4(OPA3):c.423_424delinsCT (p.Gln141_Ala142delinsHisSer)
|
|
|
NM_025136.4(OPA3):c.424G>C (p.Ala142Pro)
|
rs535683352
|
|
NM_025136.4(OPA3):c.425C>T (p.Ala142Val)
|
rs2122438899
|
|
NM_025136.4(OPA3):c.427G>C (p.Ala143Pro)
|
|
|
NM_025136.4(OPA3):c.429_430delinsAA (p.Pro144Thr)
|
|
|
NM_025136.4(OPA3):c.431C>A (p.Pro144Gln)
|
rs775398472
|
|
NM_025136.4(OPA3):c.431C>G (p.Pro144Arg)
|
|
|
NM_025136.4(OPA3):c.431del (p.Pro144fs)
|
rs1205708262
|
|
NM_025136.4(OPA3):c.433C>T (p.Pro145Ser)
|
|
|
NM_025136.4(OPA3):c.434C>T (p.Pro145Leu)
|
|
|
NM_025136.4(OPA3):c.436C>A (p.Gln146Lys)
|
|
|
NM_025136.4(OPA3):c.437A>G (p.Gln146Arg)
|
|
|
NM_025136.4(OPA3):c.439_440del (p.Gly147fs)
|
|
|
NM_025136.4(OPA3):c.448G>C (p.Glu150Gln)
|
|
|
NM_025136.4(OPA3):c.455T>C (p.Leu152Pro)
|
|
|
NM_025136.4(OPA3):c.458G>T (p.Arg153Leu)
|
|
|
NM_025136.4(OPA3):c.469C>G (p.Gln157Glu)
|
|
|
NM_025136.4(OPA3):c.470_478del (p.Gln157_Val159del)
|
rs745544229
|
|
NM_025136.4(OPA3):c.472G>A (p.Glu158Lys)
|
|
|
NM_025136.4(OPA3):c.484C>G (p.Gln162Glu)
|
|
|
NM_025136.4(OPA3):c.484C>T (p.Gln162Ter)
|
|
|
NM_025136.4(OPA3):c.494A>G (p.Asn165Ser)
|
|
|
NM_025136.4(OPA3):c.502C>T (p.Arg168Trp)
|
rs750946088
|
|
NM_025136.4(OPA3):c.514C>T (p.His172Tyr)
|
rs1293731096
|
|
NM_025136.4(OPA3):c.517G>A (p.Ala173Thr)
|
|
|
NM_025136.4(OPA3):c.532A>G (p.Lys178Glu)
|
rs767372876
|
|
NM_025136.4(OPA3):c.55G>A (p.Val19Ile)
|
rs1343690502
|
|
NM_025136.4(OPA3):c.73A>G (p.Asn25Asp)
|
|
|
NM_025136.4(OPA3):c.77G>T (p.Arg26Leu)
|
rs1302916174
|
|
NM_025136.4(OPA3):c.7G>C (p.Val3Leu)
|
|
|
NM_025136.4(OPA3):c.81del (p.Lys28fs)
|
|
|
NM_025136.4(OPA3):c.87G>T (p.Glu29Asp)
|
rs1194417590
|
|
NM_025136.4(OPA3):c.89C>T (p.Ala30Val)
|
|
|
NM_025136.4(OPA3):c.91G>C (p.Ala31Pro)
|
|
|
NM_025136.4(OPA3):c.94C>T (p.Arg32Cys)
|
|
|
NM_030813.6(CLPB):c.675C>A (p.His225Gln)
|
rs2135658006
|
|
NM_030813.6(CLPB):c.736G>A (p.Val246Ile)
|
|
|
NM_030940.4(ISCA1):c.20G>C (p.Arg7Pro)
|
|
|
NM_030940.4(ISCA1):c.259G>A (p.Glu87Lys)
|
rs776679653
|
|
NM_031885.3(BBS2):c.-163C>T
|
rs750434595
|
|
NM_031885.5(BBS2):c.1123G>C (p.Gly375Arg)
|
rs1018314879
|
|
NM_031885.5(BBS2):c.1169G>T (p.Ser390Ile)
|
rs1169691619
|
|
NM_031885.5(BBS2):c.1190C>T (p.Thr397Ile)
|
rs368138622
|
|
NM_031885.5(BBS2):c.1208G>T (p.Arg403Leu)
|
rs192007013
|
|
NM_031885.5(BBS2):c.142C>T (p.Arg48Trp)
|
rs1030249829
|
|
NM_031885.5(BBS2):c.1543G>T (p.Gly515Cys)
|
rs181107019
|
|
NM_031885.5(BBS2):c.1624G>T (p.Gly542Cys)
|
rs556899786
|
|
NM_031885.5(BBS2):c.1895G>A (p.Arg632His)
|
rs138043021
|
|
NM_031885.5(BBS2):c.1973A>G (p.Tyr658Cys)
|
rs753656568
|
|
NM_031885.5(BBS2):c.365C>T (p.Ala122Val)
|
rs17856449
|
|
NM_031885.5(BBS2):c.485A>G (p.Asn162Ser)
|
rs749148042
|
|
NM_031885.5(BBS2):c.662T>C (p.Leu221Pro)
|
rs1597020018
|
|
NM_031885.5(BBS2):c.851A>T (p.Asn284Ile)
|
rs377749641
|
|
NM_031885.5(BBS2):c.8T>C (p.Leu3Pro)
|
rs1964870972
|
|
NM_031885.5(BBS2):c.940+3A>C
|
rs2144150079
|
|
NM_031885.5(BBS2):c.974G>A (p.Arg325Lys)
|
rs1964301074
|
|
NM_032119.4(ADGRV1):c.10558C>T (p.Leu3520Phe)
|
rs1561644399
|
|
NM_032180.2(FAM161A):c.-81A>T
|
rs1234376053
|
|
NM_032316.3(NICN1):c.*2266dup
|
rs886058684
|
|
NM_032316.3(NICN1):c.*2283C>G
|
rs192377809
|
|
NM_032316.3(NICN1):c.*2283C>T
|
rs192377809
|
|
NM_032316.3(NICN1):c.*634G>C
|
rs1416250958
|
|
NM_032601.4(MCEE):c.*64A>C
|
rs1672850658
|
|
NM_032601.4(MCEE):c.140G>A (p.Arg47Gln)
|
rs377624743
|
|
NM_032601.4(MCEE):c.140G>T (p.Arg47Leu)
|
rs377624743
|
|
NM_032601.4(MCEE):c.226_227delinsAT (p.Ala76Met)
|
rs1673171875
|
|
NM_032601.4(MCEE):c.269A>G (p.Asn90Ser)
|
|
|
NM_032601.4(MCEE):c.275G>A (p.Gly92Glu)
|
|
|
NM_032601.4(MCEE):c.311G>A (p.Arg104His)
|
rs6748672
|
|
NM_032601.4(MCEE):c.352G>C (p.Gly118Arg)
|
rs975070037
|
|
NM_032601.4(MCEE):c.368T>A (p.Ile123Asn)
|
rs886056277
|
|
NM_032601.4(MCEE):c.38T>C (p.Val13Ala)
|
|
|
NM_032601.4(MCEE):c.3G>A (p.Met1Ile)
|
rs1558750455
|
|
NM_032601.4(MCEE):c.400G>A (p.Val134Met)
|
|
|
NM_032601.4(MCEE):c.41-9A>G
|
rs1673178812
|
|
NM_032601.4(MCEE):c.425T>A (p.Ile142Asn)
|
|
|
NM_032601.4(MCEE):c.466A>G (p.Lys156Glu)
|
rs368609786
|
|
NM_032861.4(SERAC1):c.1003A>G (p.Ile335Val)
|
|
|
NM_032861.4(SERAC1):c.1009C>T (p.Arg337Cys)
|
|
|
NM_032861.4(SERAC1):c.1166G>A (p.Ser389Asn)
|
|
|
NM_032861.4(SERAC1):c.118C>T (p.Leu40Phe)
|
|
|
NM_032861.4(SERAC1):c.1195A>G (p.Ile399Val)
|
|
|
NM_032861.4(SERAC1):c.1203C>A (p.Gly401=)
|
|
|
NM_032861.4(SERAC1):c.1272G>A (p.Met424Ile)
|
|
|
NM_032861.4(SERAC1):c.1308+6G>A
|
|
|
NM_032861.4(SERAC1):c.1334C>A (p.Ala445Asp)
|
rs553879407
|
|
NM_032861.4(SERAC1):c.1364C>G (p.Thr455Ser)
|
rs767870142
|
|
NM_032861.4(SERAC1):c.1365C>T (p.Thr455=)
|
|
|
NM_032861.4(SERAC1):c.1374C>T (p.Ser458=)
|
|
|
NM_032861.4(SERAC1):c.1375G>A (p.Asp459Asn)
|
rs189064007
|
|
NM_032861.4(SERAC1):c.1396A>G (p.Met466Val)
|
|
|
NM_032861.4(SERAC1):c.1491T>A (p.His497Gln)
|
rs1064796860
|
|
NM_032861.4(SERAC1):c.1501+4A>C
|
rs755406082
|
|
NM_032861.4(SERAC1):c.1501+4A>G
|
rs755406082
|
|
NM_032861.4(SERAC1):c.1501+5G>A
|
|
|
NM_032861.4(SERAC1):c.1505T>G (p.Leu502Arg)
|
rs2128410682
|
|
NM_032861.4(SERAC1):c.1519_1521dup (p.Met507_Leu508insMet)
|
|
|
NM_032861.4(SERAC1):c.152A>G (p.Glu51Gly)
|
|
|
NM_032861.4(SERAC1):c.1577G>A (p.Gly526Glu)
|
rs1554261079
|
|
NM_032861.4(SERAC1):c.1628C>T (p.Ser543Phe)
|
|
|
NM_032861.4(SERAC1):c.1693_1694dup (p.Leu566fs)
|
|
|
NM_032861.4(SERAC1):c.1720C>G (p.Leu574Val)
|
|
|
NM_032861.4(SERAC1):c.1766A>C (p.Glu589Ala)
|
|
|
NM_032861.4(SERAC1):c.1793T>C (p.Met598Thr)
|
|
|
NM_032861.4(SERAC1):c.1825G>A (p.Ala609Thr)
|
|
|
NM_032861.4(SERAC1):c.1829-6C>G
|
|
|
NM_032861.4(SERAC1):c.1839T>A (p.Ile613=)
|
|
|
NM_032861.4(SERAC1):c.1916G>A (p.Arg639His)
|
rs768913919
|
|
NM_032861.4(SERAC1):c.1916G>C (p.Arg639Pro)
|
rs768913919
|
|
NM_032861.4(SERAC1):c.1926_1930del (p.Gln642fs)
|
|
|
NM_032861.4(SERAC1):c.1934G>A (p.Arg645His)
|
|
|
NM_032861.4(SERAC1):c.194T>C (p.Val65Ala)
|
|
|
NM_032861.4(SERAC1):c.1962C>G (p.Asn654Lys)
|
rs1784140439
|
|
NM_032861.4(SERAC1):c.1963_*1del (p.Ter655SerextTer?)
|
|
|
NM_032861.4(SERAC1):c.1965A>G (p.Ter655=)
|
|
|
NM_032861.4(SERAC1):c.203G>A (p.Arg68Gln)
|
rs1384614641
|
|
NM_032861.4(SERAC1):c.206A>G (p.Glu69Gly)
|
rs2128422343
|
|
NM_032861.4(SERAC1):c.21C>G (p.Cys7Trp)
|
rs139301835
|
|
NM_032861.4(SERAC1):c.254G>A (p.Gly85Glu)
|
rs376468988
|
|
NM_032861.4(SERAC1):c.301G>A (p.Ala101Thr)
|
|
|
NM_032861.4(SERAC1):c.340C>T (p.Arg114Trp)
|
|
|
NM_032861.4(SERAC1):c.341G>A (p.Arg114Gln)
|
|
|
NM_032861.4(SERAC1):c.412C>T (p.Arg138Trp)
|
|
|
NM_032861.4(SERAC1):c.429T>A (p.Asp143Glu)
|
|
|
NM_032861.4(SERAC1):c.44G>A (p.Gly15Glu)
|
rs1785406112
|
|
NM_032861.4(SERAC1):c.458G>A (p.Arg153Gln)
|
|
|
NM_032861.4(SERAC1):c.488-3T>G
|
rs2128420377
|
|
NM_032861.4(SERAC1):c.536T>C (p.Ile179Thr)
|
|
|
NM_032861.4(SERAC1):c.566T>C (p.Leu189Pro)
|
|
|
NM_032861.4(SERAC1):c.566T>G (p.Leu189Arg)
|
rs576602246
|
|
NM_032861.4(SERAC1):c.568C>T (p.Arg190Cys)
|
rs564717592
|
|
NM_032861.4(SERAC1):c.719A>G (p.Gln240Arg)
|
|
|
NM_032861.4(SERAC1):c.734A>G (p.Gln245Arg)
|
|
|
NM_032861.4(SERAC1):c.738+1927G>C
|
|
|
NM_032861.4(SERAC1):c.738+5G>C
|
|
|
NM_032861.4(SERAC1):c.772C>T (p.Pro258Ser)
|
rs571113650
|
|
NM_032861.4(SERAC1):c.808A>G (p.Thr270Ala)
|
|
|
NM_032861.4(SERAC1):c.819G>A (p.Met273Ile)
|
|
|
NM_032861.4(SERAC1):c.821T>C (p.Phe274Ser)
|
|
|
NM_032861.4(SERAC1):c.863A>C (p.His288Pro)
|
|
|
NM_032861.4(SERAC1):c.86A>G (p.Asp29Gly)
|
rs779737059
|
|
NM_032861.4(SERAC1):c.871A>G (p.Lys291Glu)
|
|
|
NM_032861.4(SERAC1):c.92-13_92-10del
|
rs779302645
|
|
NM_032861.4(SERAC1):c.92-14_92-10del
|
|
|
NM_032861.4(SERAC1):c.931T>C (p.Cys311Arg)
|
rs2128415147
|
|
NM_032861.4(SERAC1):c.940G>T (p.Val314Leu)
|
|
|
NM_032861.4(SERAC1):c.958C>T (p.Arg320Cys)
|
|
|
NM_032861.4(SERAC1):c.98TAA[1] (p.Ile34del)
|
rs754630732
|
|
NM_033028.5(BBS4):c.864+1G>C
|
rs2151047618
|
|
NM_033100.4(CDHR1):c.*1055C>A
|
rs117975094
|
|
NM_033100.4(CDHR1):c.*1487C>A
|
rs768873138
|
|
NM_033100.4(CDHR1):c.*1914C>G
|
rs553379136
|
|
NM_033100.4(CDHR1):c.*2296G>C
|
rs886047346
|
|
NM_033100.4(CDHR1):c.*242T>G
|
rs886047331
|
|
NM_033100.4(CDHR1):c.*305C>G
|
rs41291360
|
|
NM_033100.4(CDHR1):c.*403G>C
|
rs1842405190
|
|
NM_033100.4(CDHR1):c.*434G>A
|
rs1842405585
|
|
NM_033100.4(CDHR1):c.*785G>A
|
rs1842410930
|
|
NM_033100.4(CDHR1):c.*878C>T
|
rs758809572
|
|
NM_033100.4(CDHR1):c.*923G>C
|
rs1842412863
|
|
NM_033100.4(CDHR1):c.*927T>C
|
rs886047338
|
|
NM_033100.4(CDHR1):c.1132C>T (p.Arg378Trp)
|
rs146783539
|
|
NM_033100.4(CDHR1):c.1321-14T>A
|
rs1564663852
|
|
NM_033100.4(CDHR1):c.1344C>T (p.Thr448=)
|
rs542195636
|
|
NM_033100.4(CDHR1):c.1354T>G (p.Phe452Val)
|
rs112631930
|
|
NM_033100.4(CDHR1):c.1367C>A (p.Ala456Glu)
|
rs142742994
|
|
NM_033100.4(CDHR1):c.138G>A (p.Glu46=)
|
rs886047322
|
|
NM_033100.4(CDHR1):c.1463G>A (p.Gly488Asp)
|
rs1842323988
|
|
NM_033100.4(CDHR1):c.151+6T>C
|
rs1842015989
|
|
NM_033100.4(CDHR1):c.1730G>A (p.Gly577Glu)
|
rs761537924
|
|
NM_033100.4(CDHR1):c.1911C>T (p.Ser637=)
|
rs1842369044
|
|
NM_033100.4(CDHR1):c.1982G>C (p.Arg661Pro)
|
rs150840551
|
|
NM_033100.4(CDHR1):c.2051_2056del (p.Arg684_Ser685del)
|
rs760555697
|
|
NM_033100.4(CDHR1):c.2101del (p.Ala701fs)
|
rs2132836714
|
|
NM_033100.4(CDHR1):c.2184G>C (p.Lys728Asn)
|
rs886047329
|
|
NM_033100.4(CDHR1):c.2197G>T (p.Val733Phe)
|
rs1589309412
|
|
NM_033100.4(CDHR1):c.2292T>C (p.Ala764=)
|
rs886047330
|
|
NM_033100.4(CDHR1):c.296A>G (p.Glu99Gly)
|
|
|
NM_033100.4(CDHR1):c.348+5G>T
|
rs1412093692
|
|
NM_033100.4(CDHR1):c.439-12T>C
|
rs886047325
|
|
NM_033100.4(CDHR1):c.739G>T (p.Val247Leu)
|
rs184579670
|
|
NM_033100.4(CDHR1):c.783+11G>A
|
rs767235020
|
|
NM_033100.4(CDHR1):c.848A>G (p.Tyr283Cys)
|
rs886047326
|
|
NM_052845.3(MMAB):c.-49G>A
|
rs748326668
|
|
NM_052845.4(MMAB):c.*1076_*1079del
|
rs886048920
|
|
NM_052845.4(MMAB):c.*1121C>T
|
rs562046988
|
|
NM_052845.4(MMAB):c.*1400G>A
|
rs1883946986
|
|
NM_052845.4(MMAB):c.*1554_*1556del
|
rs886048918
|
|
NM_052845.4(MMAB):c.*1554del
|
rs886048919
|
|
NM_052845.4(MMAB):c.*1576_*1578del
|
rs34507867
|
|
NM_052845.4(MMAB):c.*1577_*1578del
|
rs34507867
|
|
NM_052845.4(MMAB):c.*1578del
|
rs34507867
|
|
NM_052845.4(MMAB):c.*1748_*1752dup
|
rs746823302
|
|
NM_052845.4(MMAB):c.*1859TA[10]
|
rs10623308
|
|
NM_052845.4(MMAB):c.*2150A>G
|
rs781473185
|
|
NM_052845.4(MMAB):c.*2326C>G
|
rs1210681751
|
|
NM_052845.4(MMAB):c.*2392C>T
|
rs1883900272
|
|
NM_052845.4(MMAB):c.*2736G>C
|
rs747163137
|
|
NM_052845.4(MMAB):c.*2950C>T
|
rs766894935
|
|
NM_052845.4(MMAB):c.*3027T>C
|
rs1883879729
|
|
NM_052845.4(MMAB):c.*3152A>T
|
rs886048915
|
|
NM_052845.4(MMAB):c.*3260G>A
|
rs1883871954
|
|
NM_052845.4(MMAB):c.*3296G>A
|
rs777939885
|
|
NM_052845.4(MMAB):c.*336TG[19]
|
rs67024670
|
|
NM_052845.4(MMAB):c.*336TG[20]
|
rs67024670
|
|
NM_052845.4(MMAB):c.*336TG[21]
|
rs67024670
|
|
NM_052845.4(MMAB):c.*336TG[23]
|
rs67024670
|
|
NM_052845.4(MMAB):c.*336TG[24]
|
rs67024670
|
|
NM_052845.4(MMAB):c.*336TG[25]
|
rs67024670
|
|
NM_052845.4(MMAB):c.*348T>G
|
rs1883987573
|
|
NM_052845.4(MMAB):c.*364_*378delinsAGA
|
rs886048926
|
|
NM_052845.4(MMAB):c.*366_*378delinsAGA
|
rs886048925
|
|
NM_052845.4(MMAB):c.*368_*378delinsA
|
rs886048924
|
|
NM_052845.4(MMAB):c.*368_*378delinsAGA
|
rs886048924
|
|
NM_052845.4(MMAB):c.*380AG[3]
|
rs370296168
|
|
NM_052845.4(MMAB):c.*380AG[5]
|
rs370296168
|
|
NM_052845.4(MMAB):c.*422T>C
|
rs1883979155
|
|
NM_052845.4(MMAB):c.*710C>T
|
rs538702791
|
|
NM_052845.4(MMAB):c.-11C>G
|
rs1228106972
|
|
NM_052845.4(MMAB):c.-9G>T
|
rs554831769
|
|
NM_052845.4(MMAB):c.161G>A (p.Arg54Lys)
|
rs2136210801
|
|
NM_052845.4(MMAB):c.19GGGAGCCGTCTTGGCCTG[1] (p.7GSRLGL[1])
|
rs770077320
|
|
NM_052845.4(MMAB):c.206G>C (p.Ser69Thr)
|
rs147297426
|
|
NM_052845.4(MMAB):c.222A>T (p.Glu74Asp)
|
rs1389815526
|
|
NM_052845.4(MMAB):c.248T>C (p.Phe83Ser)
|
rs1185132313
|
|
NM_052845.4(MMAB):c.249T>G (p.Phe83Leu)
|
rs2136208348
|
|
NM_052845.4(MMAB):c.339G>C (p.Glu113Asp)
|
rs2136203868
|
|
NM_052845.4(MMAB):c.378G>A (p.Ser126=)
|
rs749452007
|
|
NM_052845.4(MMAB):c.378G>T (p.Ser126=)
|
rs749452007
|
|
NM_052845.4(MMAB):c.388_411del (p.Thr130_Glu137del)
|
rs1555274650
|
|
NM_052845.4(MMAB):c.406C>A (p.Arg136=)
|
rs763783083
|
|
NM_052845.4(MMAB):c.425A>C (p.Tyr142Ser)
|
|
|
NM_052845.4(MMAB):c.430A>G (p.Thr144Ala)
|
|
|
NM_052845.4(MMAB):c.43C>T (p.Arg15Cys)
|
rs921232728
|
|
NM_052845.4(MMAB):c.490C>T (p.Leu164Phe)
|
rs1393437649
|
|
NM_052845.4(MMAB):c.519+13C>T
|
|
|
NM_052845.4(MMAB):c.519+17C>T
|
rs1884195985
|
|
NM_052845.4(MMAB):c.541G>A (p.Ala181Thr)
|
rs1439180009
|
|
NM_052845.4(MMAB):c.554G>A (p.Cys185Tyr)
|
rs767774574
|
|
NM_052845.4(MMAB):c.556C>G (p.Arg186Gly)
|
|
|
NM_052845.4(MMAB):c.557G>A (p.Arg186Gln)
|
rs773059864
|
|
NM_052845.4(MMAB):c.563_577del (p.Val188_Ala192del)
|
rs1555274496
|
|
NM_052845.4(MMAB):c.569G>T (p.Arg190Leu)
|
|
|
NM_052845.4(MMAB):c.576C>T (p.Ala192=)
|
rs757562796
|
|
NM_052845.4(MMAB):c.57C>T (p.Arg19=)
|
rs10774774
|
|
NM_052845.4(MMAB):c.593C>T (p.Pro198Leu)
|
rs886048927
|
|
NM_052845.4(MMAB):c.604A>G (p.Met202Val)
|
rs1884098738
|
|
NM_052845.4(MMAB):c.616G>A (p.Asp206Asn)
|
|
|
NM_052845.4(MMAB):c.652G>A (p.Asp218Asn)
|
|
|
NM_052845.4(MMAB):c.66C>G (p.Phe22Leu)
|
|
|
NM_052845.4(MMAB):c.676T>C (p.Tyr226His)
|
|
|
NM_052845.4(MMAB):c.689A>C (p.Lys230Thr)
|
|
|
NM_052845.4(MMAB):c.731C>T (p.Ser244Leu)
|
|
|
NM_052845.4(MMAB):c.7G>A (p.Val3Met)
|
rs1884748119
|
|
NM_052845.4(MMAB):c.88C>T (p.Pro30Ser)
|
|
|
NM_054012.3(ASS1):c.-146_-145dup
|
rs886063530
|
|
NM_054012.3(ASS1):c.-185A>G
|
rs886063528
|
|
NM_054012.3(ASS1):c.-203C>G
|
rs886063527
|
|
NM_054012.3(ASS1):c.-217G>T
|
rs1427339813
|
|
NM_054012.3(ASS1):c.-233G>C
|
rs886063526
|
|
NM_054012.3(ASS1):c.-233G>T
|
rs886063526
|
|
NM_054012.3(ASS1):c.-300G>C
|
rs928360571
|
|
NM_054012.4(ASS1):c.*225_*228del
|
rs886063534
|
|
NM_054012.4(ASS1):c.*244T>C
|
rs1846749628
|
|
NM_054012.4(ASS1):c.1009T>G (p.Cys337Gly)
|
rs1554725043
|
|
NM_054012.4(ASS1):c.1025A>C (p.Gln342Pro)
|
|
|
NM_054012.4(ASS1):c.1025A>G (p.Gln342Arg)
|
rs1554725061
|
|
NM_054012.4(ASS1):c.105+5G>A
|
rs1329809424
|
|
NM_054012.4(ASS1):c.1067G>T (p.Gly356Val)
|
rs1261110148
|
|
NM_054012.4(ASS1):c.1070A>G (p.Gln357Arg)
|
rs1846543789
|
|
NM_054012.4(ASS1):c.1087C>G (p.Arg363Gly)
|
rs121908640
|
|
NM_054012.4(ASS1):c.1118_1123del (p.Glu373_Leu374del)
|
rs2118880656
|
|
NM_054012.4(ASS1):c.1135G>A (p.Val379Met)
|
|
|
NM_054012.4(ASS1):c.1153C>G (p.Pro385Ala)
|
|
|
NM_054012.4(ASS1):c.115G>C (p.Gly39Arg)
|
rs2131869276
|
|
NM_054012.4(ASS1):c.1162G>T (p.Ala388Ser)
|
|
|
NM_054012.4(ASS1):c.1176C>G (p.Ile392Met)
|
|
|
NM_054012.4(ASS1):c.1194G>C (p.Arg398Ser)
|
|
|
NM_054012.4(ASS1):c.1201G>A (p.Glu401Lys)
|
rs990803455
|
|
NM_054012.4(ASS1):c.1208_1213del (p.His403_Arg404del)
|
rs1554725909
|
|
NM_054012.4(ASS1):c.133G>A (p.Glu45Lys)
|
|
|
NM_054012.4(ASS1):c.140C>T (p.Ala47Val)
|
rs1301161301
|
|
NM_054012.4(ASS1):c.14G>C (p.Gly5Ala)
|
rs201700775
|
|
NM_054012.4(ASS1):c.160C>G (p.Leu54Val)
|
rs1564902078
|
|
NM_054012.4(ASS1):c.167C>A (p.Ala56Asp)
|
rs2131869336
|
|
NM_054012.4(ASS1):c.16T>G (p.Ser6Ala)
|
|
|
NM_054012.4(ASS1):c.182T>C (p.Ile61Thr)
|
|
|
NM_054012.4(ASS1):c.199G>A (p.Glu67Lys)
|
|
|
NM_054012.4(ASS1):c.216C>G (p.Phe72Leu)
|
rs1554982824
|
|
NM_054012.4(ASS1):c.231C>G (p.Ile77Met)
|
|
|
NM_054012.4(ASS1):c.250G>A (p.Glu84Lys)
|
rs1554982834
|
|
NM_054012.4(ASS1):c.262C>A (p.Leu88Ile)
|
rs895822620
|
|
NM_054012.4(ASS1):c.285_286delinsTT (p.Arg95_Pro96delinsSerSer)
|
|
|
NM_054012.4(ASS1):c.28G>C (p.Ala10Pro)
|
rs1845345016
|
|
NM_054012.4(ASS1):c.294C>A (p.Ile98=)
|
rs183370361
|
|
NM_054012.4(ASS1):c.314T>G (p.Ile105Ser)
|
rs1845505181
|
|
NM_054012.4(ASS1):c.317C>G (p.Ala106Gly)
|
|
|
NM_054012.4(ASS1):c.323G>A (p.Arg108Gln)
|
|
|
NM_054012.4(ASS1):c.323G>T (p.Arg108Leu)
|
rs35269064
|
|
NM_054012.4(ASS1):c.363G>A (p.Lys121=)
|
rs2131874200
|
|
NM_054012.4(ASS1):c.370G>T (p.Asp124Tyr)
|
|
|
NM_054012.4(ASS1):c.379C>T (p.Arg127Trp)
|
rs771794639
|
|
NM_054012.4(ASS1):c.380G>T (p.Arg127Leu)
|
rs201623252
|
|
NM_054012.4(ASS1):c.404T>C (p.Leu135Pro)
|
|
|
NM_054012.4(ASS1):c.406_414del (p.Ala136_Gln138del)
|
rs1554983716
|
|
NM_054012.4(ASS1):c.420+3A>G
|
|
|
NM_054012.4(ASS1):c.439A>C (p.Met147Leu)
|
rs2131882521
|
|
NM_054012.4(ASS1):c.472A>G (p.Asn158Asp)
|
rs1199062770
|
|
NM_054012.4(ASS1):c.481A>T (p.Met161Leu)
|
|
|
NM_054012.4(ASS1):c.500A>G (p.His167Arg)
|
|
|
NM_054012.4(ASS1):c.502G>A (p.Gly168Arg)
|
|
|
NM_054012.4(ASS1):c.515C>G (p.Pro172Arg)
|
rs372078387
|
|
NM_054012.4(ASS1):c.515C>T (p.Pro172Leu)
|
rs372078387
|
|
NM_054012.4(ASS1):c.518T>A (p.Val173Asp)
|
rs1588486990
|
|
NM_054012.4(ASS1):c.537G>C (p.Trp179Cys)
|
rs1409764603
|
|
NM_054012.4(ASS1):c.544G>A (p.Asp182Asn)
|
|
|
NM_054012.4(ASS1):c.557T>G (p.Met186Arg)
|
rs1564151430
|
|
NM_054012.4(ASS1):c.572A>C (p.Glu191Ala)
|
rs2131887113
|
|
NM_054012.4(ASS1):c.574G>A (p.Ala192Thr)
|
rs568893606
|
|
NM_054012.4(ASS1):c.578G>C (p.Gly193Ala)
|
rs2131887129
|
|
NM_054012.4(ASS1):c.584T>C (p.Leu195Pro)
|
rs796051936
|
|
NM_054012.4(ASS1):c.586G>A (p.Glu196Lys)
|
rs1845865147
|
|
NM_054012.4(ASS1):c.590A>G (p.Asn197Ser)
|
|
|
NM_054012.4(ASS1):c.598-2_599dup
|
rs1554723138
|
|
NM_054012.4(ASS1):c.601C>G (p.Gln201Glu)
|
|
|
NM_054012.4(ASS1):c.605C>A (p.Ala202Glu)
|
rs376371866
|
|
NM_054012.4(ASS1):c.617T>A (p.Leu206His)
|
|
|
NM_054012.4(ASS1):c.619T>C (p.Tyr207His)
|
|
|
NM_054012.4(ASS1):c.623C>G (p.Thr208Arg)
|
rs776441071
|
|
NM_054012.4(ASS1):c.625A>G (p.Lys209Glu)
|
|
|
NM_054012.4(ASS1):c.638C>T (p.Pro213Leu)
|
rs1486449199
|
|
NM_054012.4(ASS1):c.63C>A (p.Leu21=)
|
rs774476997
|
|
NM_054012.4(ASS1):c.646G>A (p.Ala216Thr)
|
|
|
NM_054012.4(ASS1):c.653A>G (p.Asn218Ser)
|
|
|
NM_054012.4(ASS1):c.65T>G (p.Val22Gly)
|
|
|
NM_054012.4(ASS1):c.676G>A (p.Glu226Lys)
|
|
|
NM_054012.4(ASS1):c.710A>T (p.Asn237Ile)
|
|
|
NM_054012.4(ASS1):c.748C>T (p.Leu250Phe)
|
rs772369785
|
|
NM_054012.4(ASS1):c.773+2dup
|
|
|
NM_054012.4(ASS1):c.773+4_773+31dup
|
rs768271017
|
|
NM_054012.4(ASS1):c.790G>A (p.Gly264Ser)
|
|
|
NM_054012.4(ASS1):c.791G>T (p.Gly264Val)
|
rs1846139972
|
|
NM_054012.4(ASS1):c.794G>T (p.Arg265Leu)
|
rs398123131
|
|
NM_054012.4(ASS1):c.827T>C (p.Met276Thr)
|
rs1365759588
|
|
NM_054012.4(ASS1):c.831G>C (p.Lys277Asn)
|
rs2118841820
|
|
NM_054012.4(ASS1):c.839-6G>A
|
rs766187530
|
|
NM_054012.4(ASS1):c.839G>T (p.Gly280Val)
|
rs754062242
|
|
NM_054012.4(ASS1):c.846C>T (p.Tyr282=)
|
rs549085827
|
|
NM_054012.4(ASS1):c.853C>T (p.Pro285Ser)
|
|
|
NM_054012.4(ASS1):c.86A>G (p.Tyr29Cys)
|
rs1457270102
|
|
NM_054012.4(ASS1):c.871T>C (p.Tyr291His)
|
|
|
NM_054012.4(ASS1):c.895_896delinsTT (p.Ala299Phe)
|
|
|
NM_054012.4(ASS1):c.896C>A (p.Ala299Asp)
|
|
|
NM_054012.4(ASS1):c.8G>A (p.Ser3Asn)
|
rs1845344324
|
|
NM_054012.4(ASS1):c.914A>T (p.Glu305Val)
|
rs398123132
|
|
NM_054012.4(ASS1):c.931C>G (p.Gln311Glu)
|
|
|
NM_054012.4(ASS1):c.955G>A (p.Glu319Lys)
|
rs1588503732
|
|
NM_054012.4(ASS1):c.961G>A (p.Val321Met)
|
rs727503813
|
|
NM_054012.4(ASS1):c.970+12T>A
|
rs886063532
|
|
NM_054012.4(ASS1):c.991T>C (p.Cys331Arg)
|
rs1055308437
|
|
NM_058004.4(PI4KA):c.1852C>T (p.Arg618Ter)
|
rs201395198
|
|
NM_058004.4(PI4KA):c.4990G>A (p.Asp1664Asn)
|
|
|
NM_058179.4(PSAT1):c.*219A>G
|
rs1828547598
|
|
NM_058179.4(PSAT1):c.*252G>A
|
rs17064358
|
|
NM_058179.4(PSAT1):c.*378T>C
|
rs1828550108
|
|
NM_058179.4(PSAT1):c.1004A>T (p.His335Leu)
|
|
|
NM_058179.4(PSAT1):c.1008-20T>A
|
|
|
NM_058179.4(PSAT1):c.1008-3T>A
|
rs2118717773
|
|
NM_058179.4(PSAT1):c.1012G>A (p.Val338Met)
|
rs2118717786
|
|
NM_058179.4(PSAT1):c.1021A>G (p.Ile341Val)
|
rs781513295
|
|
NM_058179.4(PSAT1):c.1024C>T (p.Arg342Trp)
|
|
|
NM_058179.4(PSAT1):c.1033_1034del (p.Leu345fs)
|
rs2118717904
|
|
NM_058179.4(PSAT1):c.1051A>G (p.Ile351Val)
|
rs760503466
|
|
NM_058179.4(PSAT1):c.1060G>A (p.Val354Ile)
|
rs776369732
|
|
NM_058179.4(PSAT1):c.107G>A (p.Gly36Asp)
|
rs1398106119
|
|
NM_058179.4(PSAT1):c.1088A>T (p.Lys363Ile)
|
rs1417176374
|
|
NM_058179.4(PSAT1):c.1090T>A (p.Phe364Ile)
|
rs1179781327
|
|
NM_058179.4(PSAT1):c.1097A>G (p.Glu366Gly)
|
rs539796298
|
|
NM_058179.4(PSAT1):c.10C>G (p.Pro4Ala)
|
rs770574883
|
|
NM_058179.4(PSAT1):c.1100T>C (p.Met367Thr)
|
|
|
NM_058179.4(PSAT1):c.118C>G (p.Leu40Val)
|
rs2118623721
|
|
NM_058179.4(PSAT1):c.121+5G>A
|
rs372232840
|
|
NM_058179.4(PSAT1):c.155T>C (p.Ile52Thr)
|
rs2118628071
|
|
NM_058179.4(PSAT1):c.164A>T (p.Asn55Ile)
|
rs777856520
|
|
NM_058179.4(PSAT1):c.175C>G (p.Leu59Val)
|
rs1433777844
|
|
NM_058179.4(PSAT1):c.233G>T (p.Gly78Val)
|
rs1270171186
|
|
NM_058179.4(PSAT1):c.251G>T (p.Ser84Ile)
|
rs1476912688
|
|
NM_058179.4(PSAT1):c.260C>A (p.Pro87His)
|
rs772427307
|
|
NM_058179.4(PSAT1):c.293G>A (p.Cys98Tyr)
|
rs776667030
|
|
NM_058179.4(PSAT1):c.328A>G (p.Lys110Glu)
|
|
|
NM_058179.4(PSAT1):c.334G>A (p.Ala112Thr)
|
rs753859574
|
|
NM_058179.4(PSAT1):c.334G>T (p.Ala112Ser)
|
rs753859574
|
|
NM_058179.4(PSAT1):c.348G>C (p.Lys116Asn)
|
rs41277897
|
|
NM_058179.4(PSAT1):c.358A>G (p.Thr120Ala)
|
|
|
NM_058179.4(PSAT1):c.376C>T (p.Pro126Ser)
|
rs1013336793
|
|
NM_058179.4(PSAT1):c.37G>A (p.Gly13Ser)
|
|
|
NM_058179.4(PSAT1):c.382C>G (p.Leu128Val)
|
|
|
NM_058179.4(PSAT1):c.386G>A (p.Gly129Glu)
|
rs368015309
|
|
NM_058179.4(PSAT1):c.395C>G (p.Thr132Arg)
|
rs1564013551
|
|
NM_058179.4(PSAT1):c.398-7G>A
|
rs1828181852
|
|
NM_058179.4(PSAT1):c.407A>C (p.Asp136Ala)
|
rs2118643144
|
|
NM_058179.4(PSAT1):c.420G>T (p.Trp140Cys)
|
rs1008314756
|
|
NM_058179.4(PSAT1):c.425T>G (p.Leu142Arg)
|
|
|
NM_058179.4(PSAT1):c.43G>A (p.Ala15Thr)
|
rs774962204
|
|
NM_058179.4(PSAT1):c.452A>G (p.Tyr151Cys)
|
rs1329274216
|
|
NM_058179.4(PSAT1):c.452A>T (p.Tyr151Phe)
|
rs1329274216
|
|
NM_058179.4(PSAT1):c.457G>A (p.Ala153Thr)
|
rs199619145
|
|
NM_058179.4(PSAT1):c.457G>T (p.Ala153Ser)
|
rs199619145
|
|
NM_058179.4(PSAT1):c.473A>G (p.His158Arg)
|
rs2118643515
|
|
NM_058179.4(PSAT1):c.481G>A (p.Glu161Lys)
|
rs1828184085
|
|
NM_058179.4(PSAT1):c.4G>A (p.Asp2Asn)
|
rs547331710
|
|
NM_058179.4(PSAT1):c.4G>T (p.Asp2Tyr)
|
rs547331710
|
|
NM_058179.4(PSAT1):c.502G>A (p.Val168Ile)
|
|
|
NM_058179.4(PSAT1):c.54G>A (p.Pro18=)
|
rs763694865
|
|
NM_058179.4(PSAT1):c.55C>G (p.His19Asp)
|
rs1057515669
|
|
NM_058179.4(PSAT1):c.570+4G>A
|
|
|
NM_058179.4(PSAT1):c.571-4dup
|
rs536197677
|
|
NM_058179.4(PSAT1):c.589G>C (p.Gly197Arg)
|
|
|
NM_058179.4(PSAT1):c.592G>A (p.Ala198Thr)
|
|
|
NM_058179.4(PSAT1):c.60+20C>T
|
rs2118610712
|
|
NM_058179.4(PSAT1):c.61-2A>G
|
rs1564012047
|
|
NM_058179.4(PSAT1):c.614C>T (p.Ala205Val)
|
|
|
NM_058179.4(PSAT1):c.625G>A (p.Val209Met)
|
|
|
NM_058179.4(PSAT1):c.679G>T (p.Val227Phe)
|
|
|
NM_058179.4(PSAT1):c.704G>T (p.Gly235Val)
|
rs1828219128
|
|
NM_058179.4(PSAT1):c.713C>G (p.Ser238Cys)
|
|
|
NM_058179.4(PSAT1):c.731C>T (p.Pro244Leu)
|
rs1240087899
|
|
NM_058179.4(PSAT1):c.741-3T>A
|
rs1291018374
|
|
NM_058179.4(PSAT1):c.745T>C (p.Tyr249His)
|
|
|
NM_058179.4(PSAT1):c.749T>C (p.Val250Ala)
|
rs572302367
|
|
NM_058179.4(PSAT1):c.777A>T (p.Lys259Asn)
|
rs2118681412
|
|
NM_058179.4(PSAT1):c.7G>A (p.Ala3Thr)
|
rs776757559
|
|
NM_058179.4(PSAT1):c.7G>T (p.Ala3Ser)
|
rs776757559
|
|
NM_058179.4(PSAT1):c.800T>C (p.Met267Thr)
|
|
|
NM_058179.4(PSAT1):c.80A>G (p.Lys27Arg)
|
rs199858132
|
|
NM_058179.4(PSAT1):c.835T>C (p.Tyr279His)
|
rs2118681747
|
|
NM_058179.4(PSAT1):c.865T>C (p.Tyr289His)
|
rs1828370943
|
|
NM_058179.4(PSAT1):c.866A>G (p.Tyr289Cys)
|
|
|
NM_058179.4(PSAT1):c.868G>T (p.Val290Phe)
|
rs200049723
|
|
NM_058179.4(PSAT1):c.905A>G (p.Asn302Ser)
|
rs1828527111
|
|
NM_058179.4(PSAT1):c.92A>G (p.Asp31Gly)
|
|
|
NM_058179.4(PSAT1):c.955dup (p.Arg319fs)
|
rs916968001
|
|
NM_130837.3(OPA1):c.1361T>C (p.Leu454Ser)
|
|
|
NM_130837.3(OPA1):c.1976A>T (p.Glu659Val)
|
|
|
NM_144499.3(GNAT1):c.508G>T (p.Val170Leu)
|
rs149647295
|
|
NM_144596.4(TTC8):c.*17A>G
|
rs1164204068
|
|
NM_144596.4(TTC8):c.*377C>T
|
rs1395639006
|
|
NM_144596.4(TTC8):c.*418G>A
|
rs2094963356
|
|
NM_144596.4(TTC8):c.*45A>C
|
rs1273103151
|
|
NM_144596.4(TTC8):c.-38C>A
|
rs886050876
|
|
NM_144596.4(TTC8):c.-44C>T
|
rs571786285
|
|
NM_144596.4(TTC8):c.1464G>C (p.Ala488=)
|
rs142073418
|
|
NM_144596.4(TTC8):c.1491C>T (p.Asp497=)
|
rs886050878
|
|
NM_144596.4(TTC8):c.305C>T (p.Thr102Ile)
|
rs1341297017
|
|
NM_144596.4(TTC8):c.417C>G (p.Ile139Met)
|
rs2094779029
|
|
NM_144596.4(TTC8):c.488C>T (p.Thr163Met)
|
rs758942370
|
|
NM_144596.4(TTC8):c.983C>T (p.Ala328Val)
|
rs755533153
|
|
NM_144631.6(ZNF513):c.-103G>A
|
rs552236644
|
|
NM_144631.6(ZNF513):c.377C>T (p.Pro126Leu)
|
rs776689084
|
|
NM_144631.6(ZNF513):c.556G>A (p.Ala186Thr)
|
rs886055908
|
|
NM_144631.6(ZNF513):c.605G>T (p.Gly202Val)
|
rs886055907
|
|
NM_144631.6(ZNF513):c.739C>G (p.Arg247Gly)
|
rs779441909
|
|
NM_144639.3(UROC1):c.640G>A (p.Gly214Ser)
|
rs751617501
|
|
NM_144969.3(ZDHHC15):c.448A>G (p.Met150Val)
|
|
|
NM_145199.3(LIPT1):c.316G>A (p.Val106Ile)
|
|
|
NM_145199.3(LIPT1):c.578T>C (p.Leu193Pro)
|
|
|
NM_145261.4(DNAJC19):c.*190ATTA[1]
|
rs886058203
|
|
NM_145261.4(DNAJC19):c.*528GT[9]
|
rs148074891
|
|
NM_145261.4(DNAJC19):c.121_126del (p.Pro41_Lys42del)
|
|
|
NM_145261.4(DNAJC19):c.136A>G (p.Ser46Gly)
|
|
|
NM_145261.4(DNAJC19):c.145T>C (p.Tyr49His)
|
|
|
NM_145261.4(DNAJC19):c.198A>G (p.Ile66Met)
|
|
|
NM_145261.4(DNAJC19):c.203G>A (p.Gly68Asp)
|
|
|
NM_145261.4(DNAJC19):c.203G>T (p.Gly68Val)
|
rs2108508819
|
|
NM_145261.4(DNAJC19):c.210-14_210-11del
|
|
|
NM_145261.4(DNAJC19):c.217G>A (p.Ala73Thr)
|
|
|
NM_145261.4(DNAJC19):c.221A>G (p.Asn74Ser)
|
rs1218208437
|
|
NM_145261.4(DNAJC19):c.226G>A (p.Gly76Arg)
|
|
|
NM_145261.4(DNAJC19):c.229A>G (p.Lys77Glu)
|
|
|
NM_145261.4(DNAJC19):c.246T>A (p.His82Gln)
|
|
|
NM_145261.4(DNAJC19):c.251G>A (p.Arg84Gln)
|
|
|
NM_145261.4(DNAJC19):c.259C>T (p.Leu87Phe)
|
rs1714880831
|
|
NM_145261.4(DNAJC19):c.280+4_280+7del
|
|
|
NM_145261.4(DNAJC19):c.295dup (p.Ile99fs)
|
|
|
NM_145261.4(DNAJC19):c.2T>C (p.Met1Thr)
|
|
|
NM_145261.4(DNAJC19):c.316G>A (p.Ala106Thr)
|
|
|
NM_145261.4(DNAJC19):c.325T>G (p.Leu109Val)
|
rs2108506959
|
|
NM_145261.4(DNAJC19):c.32C>T (p.Thr11Ile)
|
rs1715007911
|
|
NM_145261.4(DNAJC19):c.331G>A (p.Glu111Lys)
|
|
|
NM_145261.4(DNAJC19):c.332A>C (p.Glu111Ala)
|
|
|
NM_145261.4(DNAJC19):c.348del (p.Lys116fs)
|
rs1714802157
|
|
NM_145261.4(DNAJC19):c.41C>T (p.Ala14Val)
|
|
|
NM_145261.4(DNAJC19):c.4G>A (p.Ala2Thr)
|
|
|
NM_145261.4(DNAJC19):c.55+5G>C
|
rs1454974888
|
|
NM_145261.4(DNAJC19):c.62A>T (p.Tyr21Phe)
|
rs752913622
|
|
NM_145261.4(DNAJC19):c.64G>A (p.Val22Ile)
|
|
|
NM_145261.4(DNAJC19):c.73G>A (p.Ala25Thr)
|
rs2108509645
|
|
NM_145698.5(ACBD5):c.1446del (p.Thr483fs)
|
rs1564578483
|
|
NM_152419.3(HGSNAT):c.1006G>A (p.Gly336Ser)
|
|
|
NM_152419.3(HGSNAT):c.1006G>T (p.Gly336Cys)
|
rs2130766732
|
|
NM_152419.3(HGSNAT):c.1012T>G (p.Leu338Val)
|
|
|
NM_152419.3(HGSNAT):c.1027G>A (p.Val343Met)
|
|
|
NM_152419.3(HGSNAT):c.1027G>T (p.Val343Leu)
|
rs1276314637
|
|
NM_152419.3(HGSNAT):c.1033A>G (p.Ile345Val)
|
rs2130783652
|
|
NM_152419.3(HGSNAT):c.1042G>A (p.Val348Met)
|
rs1318217031
|
|
NM_152419.3(HGSNAT):c.1052G>A (p.Arg351Gln)
|
rs1299209150
|
|
NM_152419.3(HGSNAT):c.1052G>T (p.Arg351Leu)
|
rs1299209150
|
|
NM_152419.3(HGSNAT):c.1069T>C (p.Phe357Leu)
|
rs2130783774
|
|
NM_152419.3(HGSNAT):c.1088A>G (p.Glu363Gly)
|
|
|
NM_152419.3(HGSNAT):c.1106C>G (p.Pro369Arg)
|
rs2130783868
|
|
NM_152419.3(HGSNAT):c.110C>G (p.Pro37Arg)
|
rs1465935790
|
|
NM_152419.3(HGSNAT):c.1112C>T (p.Pro371Leu)
|
rs1804152812
|
|
NM_152419.3(HGSNAT):c.1128G>T (p.Ser376=)
|
rs770462636
|
|
NM_152419.3(HGSNAT):c.1132A>T (p.Arg378Trp)
|
rs2130805062
|
|
NM_152419.3(HGSNAT):c.1133G>C (p.Arg378Thr)
|
|
|
NM_152419.3(HGSNAT):c.1134G>T (p.Arg378Ser)
|
|
|
NM_152419.3(HGSNAT):c.1151G>T (p.Arg384Leu)
|
rs377486419
|
|
NM_152419.3(HGSNAT):c.1155C>G (p.Asp385Glu)
|
|
|
NM_152419.3(HGSNAT):c.1175A>T (p.Gln392Leu)
|
rs772905027
|
|
NM_152419.3(HGSNAT):c.117A>C (p.Arg39=)
|
rs1802484828
|
|
NM_152419.3(HGSNAT):c.1180C>A (p.Leu394Met)
|
rs1335612982
|
|
NM_152419.3(HGSNAT):c.1185_1196del (p.Ile396_Leu399del)
|
|
|
NM_152419.3(HGSNAT):c.1225C>T (p.Leu409Phe)
|
|
|
NM_152419.3(HGSNAT):c.1237C>G (p.Pro413Ala)
|
rs201346206
|
|
NM_152419.3(HGSNAT):c.1255T>C (p.Tyr419His)
|
rs1220333666
|
|
NM_152419.3(HGSNAT):c.1256A>G (p.Tyr419Cys)
|
|
|
NM_152419.3(HGSNAT):c.1265C>G (p.Pro422Arg)
|
|
|
NM_152419.3(HGSNAT):c.1269G>A (p.Gly423=)
|
rs2130807297
|
|
NM_152419.3(HGSNAT):c.1271G>A (p.Gly424Asp)
|
rs2130807313
|
|
NM_152419.3(HGSNAT):c.1283T>G (p.Phe428Cys)
|
rs777276988
|
|
NM_152419.3(HGSNAT):c.1291T>C (p.Tyr431His)
|
|
|
NM_152419.3(HGSNAT):c.1312G>A (p.Ala438Thr)
|
|
|
NM_152419.3(HGSNAT):c.1316C>G (p.Ala439Gly)
|
rs1804567846
|
|
NM_152419.3(HGSNAT):c.1327G>A (p.Asp443Asn)
|
|
|
NM_152419.3(HGSNAT):c.1330C>G (p.Arg444Gly)
|
rs763301637
|
|
NM_152419.3(HGSNAT):c.1330C>T (p.Arg444Cys)
|
rs763301637
|
|
NM_152419.3(HGSNAT):c.1356_1358del (p.Tyr453del)
|
|
|
NM_152419.3(HGSNAT):c.1358A>G (p.Tyr453Cys)
|
|
|
NM_152419.3(HGSNAT):c.135A>T (p.Arg45Ser)
|
|
|
NM_152419.3(HGSNAT):c.1370C>T (p.Ser457Phe)
|
|
|
NM_152419.3(HGSNAT):c.1378G>A (p.Val460Ile)
|
|
|
NM_152419.3(HGSNAT):c.137A>T (p.His46Leu)
|
rs2130677199
|
|
NM_152419.3(HGSNAT):c.1393G>A (p.Glu465Lys)
|
|
|
NM_152419.3(HGSNAT):c.1396G>A (p.Val466Met)
|
rs1414923802
|
|
NM_152419.3(HGSNAT):c.1420C>G (p.Leu474Val)
|
rs1804620596
|
|
NM_152419.3(HGSNAT):c.142G>A (p.Glu48Lys)
|
rs1182131036
|
|
NM_152419.3(HGSNAT):c.1433A>C (p.Asn478Thr)
|
|
|
NM_152419.3(HGSNAT):c.1433A>G (p.Asn478Ser)
|
|
|
NM_152419.3(HGSNAT):c.1465-10T>C
|
rs1804745819
|
|
NM_152419.3(HGSNAT):c.1465-17T>A
|
rs764680385
|
|
NM_152419.3(HGSNAT):c.1465-4_1465-3delinsGA
|
|
|
NM_152419.3(HGSNAT):c.14G>T (p.Gly5Val)
|
|
|
NM_152419.3(HGSNAT):c.1516C>G (p.Arg506Gly)
|
|
|
NM_152419.3(HGSNAT):c.1532G>A (p.Cys511Tyr)
|
|
|
NM_152419.3(HGSNAT):c.1543-20_1543-7delinsTTTCTGAGATAATAATATAAAATG
|
rs2130821034
|
|
NM_152419.3(HGSNAT):c.154G>A (p.Asp52Asn)
|
rs1802738082
|
|
NM_152419.3(HGSNAT):c.1601A>T (p.Asn534Ile)
|
rs2130821294
|
|
NM_152419.3(HGSNAT):c.1612T>C (p.Trp538Arg)
|
|
|
NM_152419.3(HGSNAT):c.1613+5G>A
|
|
|
NM_152419.3(HGSNAT):c.1616C>G (p.Ser539Cys)
|
rs1372286994
|
|
NM_152419.3(HGSNAT):c.1634C>A (p.Thr545Lys)
|
rs377050184
|
|
NM_152419.3(HGSNAT):c.1643C>T (p.Ser548Phe)
|
rs1804778997
|
|
NM_152419.3(HGSNAT):c.1687_1688delinsAG (p.Val563Arg)
|
rs1563386838
|
|
NM_152419.3(HGSNAT):c.1692G>C (p.Lys564Asn)
|
|
|
NM_152419.3(HGSNAT):c.1703C>A (p.Thr568Lys)
|
|
|
NM_152419.3(HGSNAT):c.1716C>A (p.Phe572Leu)
|
|
|
NM_152419.3(HGSNAT):c.1721A>G (p.Tyr574Cys)
|
rs1177263214
|
|
NM_152419.3(HGSNAT):c.1723C>G (p.Pro575Ala)
|
|
|
NM_152419.3(HGSNAT):c.1723C>T (p.Pro575Ser)
|
rs754143732
|
|
NM_152419.3(HGSNAT):c.1726G>A (p.Gly576Arg)
|
rs1366558211
|
|
NM_152419.3(HGSNAT):c.1727-3A>C
|
|
|
NM_152419.3(HGSNAT):c.1732A>T (p.Asn578Tyr)
|
|
|
NM_152419.3(HGSNAT):c.1742T>C (p.Leu581Pro)
|
|
|
NM_152419.3(HGSNAT):c.1749_1750inv (p.Val584Ile)
|
|
|
NM_152419.3(HGSNAT):c.174C>G (p.Ile58Met)
|
rs749911696
|
|
NM_152419.3(HGSNAT):c.1752C>A (p.Val584=)
|
|
|
NM_152419.3(HGSNAT):c.1753G>A (p.Gly585Ser)
|
|
|
NM_152419.3(HGSNAT):c.1753G>C (p.Gly585Arg)
|
rs376476836
|
|
NM_152419.3(HGSNAT):c.1762G>A (p.Val588Met)
|
|
|
NM_152419.3(HGSNAT):c.1772A>C (p.Asn591Thr)
|
rs1804845888
|
|
NM_152419.3(HGSNAT):c.1775A>G (p.Tyr592Cys)
|
|
|
NM_152419.3(HGSNAT):c.1782_1815del (p.Phe595fs)
|
rs1298170960
|
|
NM_152419.3(HGSNAT):c.1786C>T (p.Gln596Ter)
|
rs750824770
|
|
NM_152419.3(HGSNAT):c.1789T>G (p.Trp597Gly)
|
|
|
NM_152419.3(HGSNAT):c.1796T>C (p.Leu599Pro)
|
rs928930218
|
|
NM_152419.3(HGSNAT):c.1801G>C (p.Asp601His)
|
|
|
NM_152419.3(HGSNAT):c.1837A>G (p.Ile613Val)
|
rs1266245327
|
|
NM_152419.3(HGSNAT):c.1839C>G (p.Ile613Met)
|
|
|
NM_152419.3(HGSNAT):c.1858G>A (p.Val620Met)
|
rs1413168448
|
|
NM_152419.3(HGSNAT):c.1864A>G (p.Ile622Val)
|
rs2130825945
|
|
NM_152419.3(HGSNAT):c.1870T>C (p.Tyr624His)
|
|
|
NM_152419.3(HGSNAT):c.1885A>C (p.Lys629Gln)
|
|
|
NM_152419.3(HGSNAT):c.1886A>G (p.Lys629Arg)
|
rs1804852352
|
|
NM_152419.3(HGSNAT):c.1886AGA[1] (p.Lys630del)
|
rs778163262
|
|
NM_152419.3(HGSNAT):c.1892T>C (p.Ile631Thr)
|
|
|
NM_152419.3(HGSNAT):c.1901A>C (p.Lys634Thr)
|
rs2130826037
|
|
NM_152419.3(HGSNAT):c.199_200insCAT (p.Asn66_Leu67insSer)
|
rs1409093216
|
|
NM_152419.3(HGSNAT):c.218C>T (p.Ser73Phe)
|
|
|
NM_152419.3(HGSNAT):c.232C>G (p.His78Asp)
|
rs1802741553
|
|
NM_152419.3(HGSNAT):c.234+5G>A
|
|
|
NM_152419.3(HGSNAT):c.235-9T>G
|
rs913764481
|
|
NM_152419.3(HGSNAT):c.235T>C (p.Cys79Arg)
|
rs1803164820
|
|
NM_152419.3(HGSNAT):c.239T>C (p.Leu80Ser)
|
|
|
NM_152419.3(HGSNAT):c.253G>A (p.Val85Ile)
|
|
|
NM_152419.3(HGSNAT):c.260T>G (p.Val87Gly)
|
rs2130713856
|
|
NM_152419.3(HGSNAT):c.263C>T (p.Pro88Leu)
|
|
|
NM_152419.3(HGSNAT):c.278C>G (p.Ala93Gly)
|
rs372055513
|
|
NM_152419.3(HGSNAT):c.284A>C (p.Lys95Thr)
|
rs374071098
|
|
NM_152419.3(HGSNAT):c.284A>G (p.Lys95Arg)
|
rs374071098
|
|
NM_152419.3(HGSNAT):c.28G>C (p.Ala10Pro)
|
|
|
NM_152419.3(HGSNAT):c.302C>T (p.Ala101Val)
|
|
|
NM_152419.3(HGSNAT):c.311G>A (p.Ser104Asn)
|
rs1586712145
|
|
NM_152419.3(HGSNAT):c.31_45del (p.Leu11_Ala15del)
|
rs1274083689
|
|
NM_152419.3(HGSNAT):c.349T>G (p.Leu117Val)
|
|
|
NM_152419.3(HGSNAT):c.34_54dup (p.Leu12_Leu18dup)
|
rs961025173
|
|
NM_152419.3(HGSNAT):c.371+5G>T
|
|
|
NM_152419.3(HGSNAT):c.371G>A (p.Arg124Lys)
|
rs1803172725
|
|
NM_152419.3(HGSNAT):c.375G>A (p.Leu125=)
|
rs2130715134
|
|
NM_152419.3(HGSNAT):c.386T>C (p.Phe129Ser)
|
rs1803180920
|
|
NM_152419.3(HGSNAT):c.387T>A (p.Phe129Leu)
|
rs932582298
|
|
NM_152419.3(HGSNAT):c.395T>C (p.Phe132Ser)
|
rs769984670
|
|
NM_152419.3(HGSNAT):c.402C>G (p.Asn134Lys)
|
rs2130715230
|
|
NM_152419.3(HGSNAT):c.409C>G (p.Leu137Val)
|
|
|
NM_152419.3(HGSNAT):c.409C>T (p.Leu137Phe)
|
rs773170952
|
|
NM_152419.3(HGSNAT):c.41C>T (p.Ala14Val)
|
rs2130647887
|
|
NM_152419.3(HGSNAT):c.437T>C (p.Val146Ala)
|
|
|
NM_152419.3(HGSNAT):c.43_44delinsTT (p.Ala15Leu)
|
rs2130647901
|
|
NM_152419.3(HGSNAT):c.43_72del (p.Ala15_Ala24del)
|
rs2130647831
|
|
NM_152419.3(HGSNAT):c.452G>C (p.Cys151Ser)
|
rs1803184135
|
|
NM_152419.3(HGSNAT):c.458T>C (p.Leu153Pro)
|
|
|
NM_152419.3(HGSNAT):c.467A>G (p.Asn156Ser)
|
|
|
NM_152419.3(HGSNAT):c.469G>A (p.Glu157Lys)
|
rs553837106
|
|
NM_152419.3(HGSNAT):c.475C>T (p.Pro159Ser)
|
|
|
NM_152419.3(HGSNAT):c.490C>T (p.Leu164Phe)
|
rs2130715697
|
|
NM_152419.3(HGSNAT):c.493+4C>G
|
|
|
NM_152419.3(HGSNAT):c.515T>C (p.Ile172Thr)
|
rs750046807
|
|
NM_152419.3(HGSNAT):c.52C>G (p.Leu18Val)
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|
|
NM_152419.3(HGSNAT):c.531C>G (p.Ile177Met)
|
|
|
NM_152419.3(HGSNAT):c.540A>G (p.Ile180Met)
|
rs1195940980
|
|
NM_152419.3(HGSNAT):c.542C>G (p.Ser181Cys)
|
|
|
NM_152419.3(HGSNAT):c.548T>G (p.Leu183Arg)
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|
|
NM_152419.3(HGSNAT):c.559T>G (p.Leu187Val)
|
|
|
NM_152419.3(HGSNAT):c.563G>A (p.Ser188Asn)
|
rs2130722111
|
|
NM_152419.3(HGSNAT):c.580A>C (p.Asn194His)
|
|
|
NM_152419.3(HGSNAT):c.599T>A (p.Ile200Lys)
|
|
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NM_152419.3(HGSNAT):c.604T>C (p.Ser202Pro)
|
|
|
NM_152419.3(HGSNAT):c.604_605delinsAA (p.Ser202Asn)
|
|
|
NM_152419.3(HGSNAT):c.605C>G (p.Ser202Cys)
|
rs1385208624
|
|
NM_152419.3(HGSNAT):c.614C>A (p.Thr205Asn)
|
rs1454265686
|
|
NM_152419.3(HGSNAT):c.620G>A (p.Arg207His)
|
|
|
NM_152419.3(HGSNAT):c.64C>G (p.Leu22Val)
|
|
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NM_152419.3(HGSNAT):c.653G>A (p.Arg218Lys)
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|
|
NM_152419.3(HGSNAT):c.667G>C (p.Asp223His)
|
rs1025285008
|
|
NM_152419.3(HGSNAT):c.675T>G (p.Asp225Glu)
|
|
|
NM_152419.3(HGSNAT):c.680A>G (p.Gln227Arg)
|
|
|
NM_152419.3(HGSNAT):c.685G>A (p.Ala229Thr)
|
rs1803593895
|
|
NM_152419.3(HGSNAT):c.701C>G (p.Ser234Cys)
|
rs1586725294
|
|
NM_152419.3(HGSNAT):c.710C>A (p.Pro237Gln)
|
rs727503962
|
|
NM_152419.3(HGSNAT):c.710C>T (p.Pro237Leu)
|
rs727503962
|
|
NM_152419.3(HGSNAT):c.725G>A (p.Ser242Asn)
|
rs2130746199
|
|
NM_152419.3(HGSNAT):c.727G>A (p.Val243Met)
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|
|
NM_152419.3(HGSNAT):c.743+4T>C
|
rs765682296
|
|
NM_152419.3(HGSNAT):c.743G>C (p.Gly248Ala)
|
rs1324238938
|
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NM_152419.3(HGSNAT):c.743G>T (p.Gly248Val)
|
rs1324238938
|
|
NM_152419.3(HGSNAT):c.744-16T>C
|
|
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NM_152419.3(HGSNAT):c.74C>G (p.Pro25Arg)
|
rs2130648242
|
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NM_152419.3(HGSNAT):c.756_761del (p.Ile252_Leu253del)
|
rs2130750552
|
|
NM_152419.3(HGSNAT):c.757C>G (p.Leu253Val)
|
rs2130750568
|
|
NM_152419.3(HGSNAT):c.778G>A (p.Gly260Arg)
|
rs2130750679
|
|
NM_152419.3(HGSNAT):c.820+6A>G
|
|
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NM_152419.3(HGSNAT):c.82T>C (p.Ser28Pro)
|
rs1802482509
|
|
NM_152419.3(HGSNAT):c.877A>G (p.Ile293Val)
|
|
|
NM_152419.3(HGSNAT):c.89G>A (p.Gly30Glu)
|
rs1490698793
|
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NM_152419.3(HGSNAT):c.8G>C (p.Gly3Ala)
|
|
|
NM_152419.3(HGSNAT):c.900A>G (p.Ile300Met)
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NM_152419.3(HGSNAT):c.908G>A (p.Arg303Gln)
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NM_152419.3(HGSNAT):c.936G>T (p.Gly312=)
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NM_152419.3(HGSNAT):c.945_946delinsTC (p.Trp316Arg)
|
|
|
NM_152419.3(HGSNAT):c.951G>C (p.Arg317Ser)
|
rs2130766469
|
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NM_152419.3(HGSNAT):c.952A>C (p.Ser318Arg)
|
|
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NM_152419.3(HGSNAT):c.96T>A (p.Asp32Glu)
|
|
|
NM_152419.3(HGSNAT):c.981_983del (p.Ile328del)
|
rs752374933
|
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NM_152419.3(HGSNAT):c.983T>C (p.Ile328Thr)
|
rs906833070
|
|
NM_152419.3(HGSNAT):c.986T>C (p.Val329Ala)
|
|
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NM_152419.3(HGSNAT):c.98C>T (p.Ala33Val)
|
rs1802483575
|
|
NM_152419.3(HGSNAT):c.994A>G (p.Asn332Asp)
|
|
|
NM_152443.3(RDH12):c.*201C>T
|
rs886050644
|
|
NM_152443.3(RDH12):c.*230A>C
|
rs1453421086
|
|
NM_152443.3(RDH12):c.*27G>A
|
rs886050642
|
|
NM_152443.3(RDH12):c.*387T>C
|
rs2038324671
|
|
NM_152443.3(RDH12):c.*476C>A
|
rs541626452
|
|
NM_152443.3(RDH12):c.-114G>A
|
rs1003356344
|
|
NM_152443.3(RDH12):c.-121G>A
|
rs886050641
|
|
NM_152443.3(RDH12):c.-253G>A
|
rs886050639
|
|
NM_152443.3(RDH12):c.152T>C (p.Ile51Thr)
|
rs104894473
|
|
NM_152443.3(RDH12):c.697G>T (p.Val233Phe)
|
rs140257538
|
|
NM_152443.3(RDH12):c.719A>G (p.His240Arg)
|
rs1594867476
|
|
NM_152443.3(RDH12):c.731T>C (p.Leu244Pro)
|
rs781099767
|
|
NM_152542.5(PPM1K):c.1034C>T (p.Pro345Leu)
|
|
|
NM_152542.5(PPM1K):c.1096G>T (p.Ala366Ser)
|
|
|
NM_152542.5(PPM1K):c.1100C>G (p.Ser367Cys)
|
|
|
NM_152542.5(PPM1K):c.118A>C (p.Ser40Arg)
|
rs2110171811
|
|
NM_152542.5(PPM1K):c.155C>T (p.Pro52Leu)
|
|
|
NM_152542.5(PPM1K):c.188A>G (p.Asn63Ser)
|
|
|
NM_152542.5(PPM1K):c.209G>A (p.Arg70His)
|
|
|
NM_152542.5(PPM1K):c.235C>A (p.Pro79Thr)
|
|
|
NM_152542.5(PPM1K):c.248A>T (p.Tyr83Phe)
|
|
|
NM_152542.5(PPM1K):c.259A>G (p.Ile87Val)
|
|
|
NM_152542.5(PPM1K):c.292G>A (p.Ala98Thr)
|
|
|
NM_152542.5(PPM1K):c.308A>G (p.Lys103Arg)
|
|
|
NM_152542.5(PPM1K):c.311G>A (p.Arg104Gln)
|
rs1221527325
|
|
NM_152542.5(PPM1K):c.328C>T (p.Arg110Trp)
|
|
|
NM_152542.5(PPM1K):c.352G>C (p.Asp118His)
|
|
|
NM_152542.5(PPM1K):c.417_418del (p.Thr140fs)
|
|
|
NM_152542.5(PPM1K):c.47A>C (p.Gln16Pro)
|
rs2110171996
|
|
NM_152542.5(PPM1K):c.509C>A (p.Ala170Asp)
|
rs770171465
|
|
NM_152542.5(PPM1K):c.515C>T (p.Ser172Leu)
|
|
|
NM_152542.5(PPM1K):c.526C>G (p.Arg176Gly)
|
rs150935940
|
|
NM_152542.5(PPM1K):c.542C>T (p.Ala181Val)
|
|
|
NM_152542.5(PPM1K):c.554C>A (p.Thr185Asn)
|
rs866594106
|
|
NM_152542.5(PPM1K):c.592G>T (p.Gly198Cys)
|
|
|
NM_152542.5(PPM1K):c.595A>G (p.Ile199Val)
|
rs1427854407
|
|
NM_152542.5(PPM1K):c.647A>G (p.Lys216Arg)
|
|
|
NM_152542.5(PPM1K):c.680C>T (p.Thr227Ile)
|
|
|
NM_152542.5(PPM1K):c.757C>T (p.His253Tyr)
|
|
|
NM_152542.5(PPM1K):c.760G>A (p.Val254Ile)
|
|
|
NM_152542.5(PPM1K):c.853-9T>G
|
|
|
NM_152542.5(PPM1K):c.917G>C (p.Ser306Thr)
|
|
|
NM_152542.5(PPM1K):c.925A>G (p.Ile309Val)
|
|
|
NM_152542.5(PPM1K):c.971A>G (p.His324Arg)
|
rs1731250018
|
|
NM_152542.5(PPM1K):c.973G>A (p.Ala325Thr)
|
rs2110154633
|
|
NM_152542.5(PPM1K):c.97C>T (p.Arg33Trp)
|
|
|
NM_152542.5(PPM1K):c.988-15T>A
|
|
|
NM_153006.3(NAGS):c.1018C>T (p.Leu340Phe)
|
rs2143987322
|
|
NM_153006.3(NAGS):c.1057G>T (p.Ala353Ser)
|
rs1320094253
|
|
NM_153006.3(NAGS):c.110G>A (p.Arg37Gln)
|
|
|
NM_153006.3(NAGS):c.115G>A (p.Ala39Thr)
|
|
|
NM_153006.3(NAGS):c.1165G>A (p.Gly389Ser)
|
rs2049107623
|
|
NM_153006.3(NAGS):c.116C>T (p.Ala39Val)
|
rs754480096
|
|
NM_153006.3(NAGS):c.1175T>A (p.Val392Glu)
|
rs1168032842
|
|
NM_153006.3(NAGS):c.1192A>T (p.Ser398Cys)
|
|
|
NM_153006.3(NAGS):c.1199G>C (p.Gly400Ala)
|
|
|
NM_153006.3(NAGS):c.1219T>C (p.Tyr407His)
|
rs1483447934
|
|
NM_153006.3(NAGS):c.1228T>C (p.Ser410Pro)
|
|
|
NM_153006.3(NAGS):c.125G>T (p.Gly42Val)
|
|
|
NM_153006.3(NAGS):c.1263C>G (p.Ser421=)
|
rs748046278
|
|
NM_153006.3(NAGS):c.1289T>C (p.Leu430Pro)
|
rs104894605
|
|
NM_153006.3(NAGS):c.1307T>G (p.Leu436Arg)
|
rs867444614
|
|
NM_153006.3(NAGS):c.1324C>G (p.Leu442Val)
|
|
|
NM_153006.3(NAGS):c.1369G>A (p.Gly457Ser)
|
|
|
NM_153006.3(NAGS):c.1389C>G (p.Cys463Trp)
|
|
|
NM_153006.3(NAGS):c.1524C>G (p.Ile508Met)
|
|
|
NM_153006.3(NAGS):c.1532C>G (p.Ser511Cys)
|
|
|
NM_153006.3(NAGS):c.1552G>A (p.Ala518Thr)
|
|
|
NM_153006.3(NAGS):c.1554C>G (p.Ala518=)
|
rs750912652
|
|
NM_153006.3(NAGS):c.181G>C (p.Glu61Gln)
|
|
|
NM_153006.3(NAGS):c.190G>A (p.Ala64Thr)
|
rs531005276
|
|
NM_153006.3(NAGS):c.193G>A (p.Gly65Ser)
|
|
|
NM_153006.3(NAGS):c.205G>C (p.Val69Leu)
|
|
|
NM_153006.3(NAGS):c.236C>T (p.Ser79Leu)
|
|
|
NM_153006.3(NAGS):c.25G>A (p.Val9Ile)
|
rs2049059364
|
|
NM_153006.3(NAGS):c.289T>C (p.Ser97Pro)
|
|
|
NM_153006.3(NAGS):c.2T>C (p.Met1Thr)
|
|
|
NM_153006.3(NAGS):c.32G>A (p.Arg11Gln)
|
|
|
NM_153006.3(NAGS):c.34G>C (p.Ala12Pro)
|
rs759453873
|
|
NM_153006.3(NAGS):c.353G>C (p.Gly118Ala)
|
|
|
NM_153006.3(NAGS):c.361C>A (p.Arg121Ser)
|
rs1024501740
|
|
NM_153006.3(NAGS):c.386C>G (p.Thr129Ser)
|
|
|
NM_153006.3(NAGS):c.467G>A (p.Ser156Asn)
|
|
|
NM_153006.3(NAGS):c.504_505delinsTT (p.Met169Leu)
|
rs2049077729
|
|
NM_153006.3(NAGS):c.536C>T (p.Ala179Val)
|
|
|
NM_153006.3(NAGS):c.541A>G (p.Thr181Ala)
|
|
|
NM_153006.3(NAGS):c.544G>C (p.Ala182Pro)
|
|
|
NM_153006.3(NAGS):c.548C>T (p.Pro183Leu)
|
|
|
NM_153006.3(NAGS):c.56T>C (p.Leu19Pro)
|
rs1230176529
|
|
NM_153006.3(NAGS):c.581C>A (p.Ala194Glu)
|
|
|
NM_153006.3(NAGS):c.602A>C (p.Lys201Thr)
|
|
|
NM_153006.3(NAGS):c.611T>C (p.Val204Ala)
|
|
|
NM_153006.3(NAGS):c.630C>T (p.Asn210=)
|
rs2049080644
|
|
NM_153006.3(NAGS):c.64C>T (p.Arg22Trp)
|
rs756973889
|
|
NM_153006.3(NAGS):c.65G>C (p.Arg22Pro)
|
|
|
NM_153006.3(NAGS):c.681C>G (p.Ala227=)
|
rs886052982
|
|
NM_153006.3(NAGS):c.696T>A (p.His232Gln)
|
rs1268332465
|
|
NM_153006.3(NAGS):c.706G>A (p.Gly236Ser)
|
|
|
NM_153006.3(NAGS):c.710G>A (p.Gly237Asp)
|
|
|
NM_153006.3(NAGS):c.719C>T (p.Ser240Leu)
|
rs781031762
|
|
NM_153006.3(NAGS):c.71G>A (p.Gly24Asp)
|
|
|
NM_153006.3(NAGS):c.721G>A (p.Val241Met)
|
rs899402990
|
|
NM_153006.3(NAGS):c.744G>T (p.Trp248Cys)
|
rs1011767739
|
|
NM_153006.3(NAGS):c.778C>A (p.Pro260Thr)
|
|
|
NM_153006.3(NAGS):c.781A>G (p.Ile261Val)
|
|
|
NM_153006.3(NAGS):c.784G>A (p.Gly262Arg)
|
rs769924999
|
|
NM_153006.3(NAGS):c.785G>C (p.Gly262Ala)
|
|
|
NM_153006.3(NAGS):c.796G>T (p.Ala266Ser)
|
|
|
NM_153006.3(NAGS):c.807C>T (p.Ser269=)
|
rs767368629
|
|
NM_153006.3(NAGS):c.83C>T (p.Ala28Val)
|
|
|
NM_153006.3(NAGS):c.857G>A (p.Arg286Gln)
|
rs2049088201
|
|
NM_153006.3(NAGS):c.872T>A (p.Ile291Asn)
|
|
|
NM_153006.3(NAGS):c.876C>G (p.Phe292Leu)
|
|
|
NM_153006.3(NAGS):c.881A>G (p.Asn294Ser)
|
|
|
NM_153006.3(NAGS):c.89G>A (p.Arg30Lys)
|
|
|
NM_153006.3(NAGS):c.8C>G (p.Thr3Arg)
|
rs958791517
|
|
NM_153006.3(NAGS):c.904A>G (p.Ser302Gly)
|
rs377702343
|
|
NM_153006.3(NAGS):c.949G>A (p.Asp317Asn)
|
|
|
NM_153006.3(NAGS):c.984A>C (p.Lys328Asn)
|
|
|
NM_172250.3(MMAA):c.*1149C>G
|
rs999175069
|
|
NM_172250.3(MMAA):c.*1221A>G
|
rs1728241243
|
|
NM_172250.3(MMAA):c.*1510C>T
|
rs1045440002
|
|
NM_172250.3(MMAA):c.*1558C>G
|
rs998811243
|
|
NM_172250.3(MMAA):c.*1897_*1901del
|
rs377206435
|
|
NM_172250.3(MMAA):c.*190C>T
|
rs1728208709
|
|
NM_172250.3(MMAA):c.*1924T>C
|
rs886059100
|
|
NM_172250.3(MMAA):c.*2343A>G
|
rs886059103
|
|
NM_172250.3(MMAA):c.*2445A>C
|
rs886059105
|
|
NM_172250.3(MMAA):c.*2448T>C
|
rs914268952
|
|
NM_172250.3(MMAA):c.*2479G>T
|
rs886059107
|
|
NM_172250.3(MMAA):c.*2617C>A
|
rs886059108
|
|
NM_172250.3(MMAA):c.*2646G>A
|
rs999780084
|
|
NM_172250.3(MMAA):c.*3125C>T
|
rs886059111
|
|
NM_172250.3(MMAA):c.*3213C>T
|
rs1317371212
|
|
NM_172250.3(MMAA):c.*3257del
|
rs886059113
|
|
NM_172250.3(MMAA):c.*3356del
|
rs577478683
|
|
NM_172250.3(MMAA):c.*3385C>T
|
rs1296968983
|
|
NM_172250.3(MMAA):c.*3797A>G
|
rs1578891934
|
|
NM_172250.3(MMAA):c.*3880G>A
|
rs1728325081
|
|
NM_172250.3(MMAA):c.*3934C>G
|
rs753155141
|
|
NM_172250.3(MMAA):c.*4044T>C
|
rs556788892
|
|
NM_172250.3(MMAA):c.*4200G>T
|
rs1346413343
|
|
NM_172250.3(MMAA):c.*581G>T
|
rs936007824
|
|
NM_172250.3(MMAA):c.*589C>G
|
rs886059095
|
|
NM_172250.3(MMAA):c.*611A>C
|
rs1728220748
|
|
NM_172250.3(MMAA):c.*661C>T
|
rs1728222063
|
|
NM_172250.3(MMAA):c.*703C>T
|
rs548243828
|
|
NM_172250.3(MMAA):c.-68C>A
|
rs886059087
|
|
NM_172250.3(MMAA):c.-68C>T
|
rs886059087
|
|
NM_172250.3(MMAA):c.1000G>A (p.Gly334Arg)
|
rs758394680
|
|
NM_172250.3(MMAA):c.1037A>G (p.Gln346Arg)
|
|
|
NM_172250.3(MMAA):c.1044A>C (p.Leu348=)
|
rs754630744
|
|
NM_172250.3(MMAA):c.1048C>T (p.Leu350Phe)
|
rs866580843
|
|
NM_172250.3(MMAA):c.1060_1065del (p.Glu354_Leu355del)
|
rs1553959122
|
|
NM_172250.3(MMAA):c.1075C>G (p.Arg359Gly)
|
rs999844958
|
|
NM_172250.3(MMAA):c.1114del (p.Gln372fs)
|
rs765726949
|
|
NM_172250.3(MMAA):c.1120del (p.Ser374fs)
|
|
|
NM_172250.3(MMAA):c.1135T>C (p.Phe379Leu)
|
rs1728200540
|
|
NM_172250.3(MMAA):c.1142C>T (p.Thr381Ile)
|
rs1057520160
|
|
NM_172250.3(MMAA):c.1156C>T (p.Arg386Trp)
|
|
|
NM_172250.3(MMAA):c.1162C>T (p.Gln388Ter)
|
|
|
NM_172250.3(MMAA):c.1198G>T (p.Ala400Ser)
|
rs895867414
|
|
NM_172250.3(MMAA):c.128C>T (p.Pro43Leu)
|
rs886059088
|
|
NM_172250.3(MMAA):c.185A>G (p.Lys62Arg)
|
|
|
NM_172250.3(MMAA):c.208A>C (p.Thr70Pro)
|
rs1328208245
|
|
NM_172250.3(MMAA):c.269A>T (p.Tyr90Phe)
|
rs148404005
|
|
NM_172250.3(MMAA):c.282_287del (p.Ile94_Gly96delinsMet)
|
|
|
NM_172250.3(MMAA):c.284A>G (p.Gln95Arg)
|
|
|
NM_172250.3(MMAA):c.295G>A (p.Ala99Thr)
|
rs1553957915
|
|
NM_172250.3(MMAA):c.314T>C (p.Ile105Thr)
|
|
|
NM_172250.3(MMAA):c.335A>G (p.His112Arg)
|
rs2126617469
|
|
NM_172250.3(MMAA):c.346A>C (p.Lys116Gln)
|
|
|
NM_172250.3(MMAA):c.362T>C (p.Val121Ala)
|
|
|
NM_172250.3(MMAA):c.373A>G (p.Lys125Glu)
|
rs1727722684
|
|
NM_172250.3(MMAA):c.383T>C (p.Leu128Pro)
|
rs560188002
|
|
NM_172250.3(MMAA):c.439+4_439+7del
|
rs1553957939
|
|
NM_172250.3(MMAA):c.457G>A (p.Gly153Ser)
|
|
|
NM_172250.3(MMAA):c.46C>A (p.Leu16Ile)
|
|
|
NM_172250.3(MMAA):c.508_509insAGG (p.Arg170delinsLysGly)
|
rs1553958153
|
|
NM_172250.3(MMAA):c.509G>C (p.Arg170Thr)
|
|
|
NM_172250.3(MMAA):c.541C>G (p.Pro181Ala)
|
|
|
NM_172250.3(MMAA):c.542CTT[2] (p.Ser183del)
|
|
|
NM_172250.3(MMAA):c.562+4A>C
|
rs1336573288
|
|
NM_172250.3(MMAA):c.599T>C (p.Leu200Ser)
|
|
|
NM_172250.3(MMAA):c.65G>T (p.Arg22Leu)
|
rs375682603
|
|
NM_172250.3(MMAA):c.664A>G (p.Arg222Gly)
|
rs920825350
|
|
NM_172250.3(MMAA):c.691T>C (p.Cys231Arg)
|
rs2126622891
|
|
NM_172250.3(MMAA):c.718C>G (p.Leu240Val)
|
rs752844506
|
|
NM_172250.3(MMAA):c.730G>T (p.Val244Phe)
|
rs771044996
|
|
NM_172250.3(MMAA):c.761C>T (p.Ala254Val)
|
|
|
NM_172250.3(MMAA):c.776T>C (p.Met259Thr)
|
rs1328403056
|
|
NM_172250.3(MMAA):c.800C>T (p.Ala267Val)
|
rs138854691
|
|
NM_172250.3(MMAA):c.862G>A (p.Val288Ile)
|
rs886059089
|
|
NM_172250.3(MMAA):c.889G>A (p.Val297Met)
|
|
|
NM_172250.3(MMAA):c.928C>G (p.Leu310Val)
|
rs1728166357
|
|
NM_172250.3(MMAA):c.970G>A (p.Val324Ile)
|
rs1010220185
|
|
NM_177550.5(SLC13A5):c.-5G>A
|
rs201070767
|
|
NM_177550.5(SLC13A5):c.1000G>T (p.Asp334Tyr)
|
rs1183731879
|
|
NM_177550.5(SLC13A5):c.1015C>A (p.Pro339Thr)
|
|
|
NM_177550.5(SLC13A5):c.102G>A (p.Lys34=)
|
rs2151505650
|
|
NM_177550.5(SLC13A5):c.103-10G>A
|
rs2151498872
|
|
NM_177550.5(SLC13A5):c.1052C>A (p.Thr351Lys)
|
|
|
NM_177550.5(SLC13A5):c.1087G>A (p.Val363Met)
|
rs2151485566
|
|
NM_177550.5(SLC13A5):c.1093A>C (p.Thr365Pro)
|
|
|
NM_177550.5(SLC13A5):c.1094C>T (p.Thr365Ile)
|
rs760586654
|
|
NM_177550.5(SLC13A5):c.1097T>C (p.Leu366Pro)
|
|
|
NM_177550.5(SLC13A5):c.10G>C (p.Ala4Pro)
|
rs2151505878
|
|
NM_177550.5(SLC13A5):c.111G>C (p.Arg37Ser)
|
rs2151498848
|
|
NM_177550.5(SLC13A5):c.1126A>G (p.Lys376Glu)
|
|
|
NM_177550.5(SLC13A5):c.1139G>A (p.Arg380His)
|
rs747458897
|
|
NM_177550.5(SLC13A5):c.1139G>T (p.Arg380Leu)
|
rs747458897
|
|
NM_177550.5(SLC13A5):c.1150G>A (p.Glu384Lys)
|
rs1461948332
|
|
NM_177550.5(SLC13A5):c.1156+3A>G
|
|
|
NM_177550.5(SLC13A5):c.1156+5G>A
|
|
|
NM_177550.5(SLC13A5):c.1159A>G (p.Arg387Gly)
|
|
|
NM_177550.5(SLC13A5):c.1162A>G (p.Lys388Glu)
|
rs756710649
|
|
NM_177550.5(SLC13A5):c.1178C>T (p.Pro393Leu)
|
rs1973458109
|
|
NM_177550.5(SLC13A5):c.1181C>T (p.Pro394Leu)
|
|
|
NM_177550.5(SLC13A5):c.1198A>C (p.Lys400Gln)
|
rs1597659809
|
|
NM_177550.5(SLC13A5):c.1199A>T (p.Lys400Met)
|
rs1973457144
|
|
NM_177550.5(SLC13A5):c.11C>T (p.Ala4Val)
|
rs1356594210
|
|
NM_177550.5(SLC13A5):c.1219C>T (p.Pro407Ser)
|
rs974605915
|
|
NM_177550.5(SLC13A5):c.1231G>A (p.Val411Met)
|
rs1207618696
|
|
NM_177550.5(SLC13A5):c.1240C>G (p.Leu414Val)
|
rs1206208725
|
|
NM_177550.5(SLC13A5):c.1241T>C (p.Leu414Pro)
|
|
|
NM_177550.5(SLC13A5):c.124A>C (p.Ile42Leu)
|
rs2151498818
|
|
NM_177550.5(SLC13A5):c.1252T>A (p.Phe418Ile)
|
|
|
NM_177550.5(SLC13A5):c.1258C>G (p.Leu420Val)
|
|
|
NM_177550.5(SLC13A5):c.1259T>C (p.Leu420Pro)
|
rs150738356
|
|
NM_177550.5(SLC13A5):c.1273G>A (p.Glu425Lys)
|
rs754804579
|
|
NM_177550.5(SLC13A5):c.1291G>T (p.Val431Leu)
|
rs201036096
|
|
NM_177550.5(SLC13A5):c.1298T>C (p.Met433Thr)
|
rs1064796654
|
|
NM_177550.5(SLC13A5):c.1300G>A (p.Gly434Arg)
|
rs759705304
|
|
NM_177550.5(SLC13A5):c.1300G>C (p.Gly434Arg)
|
rs759705304
|
|
NM_177550.5(SLC13A5):c.1308_1322del (p.Gln436_Leu440del)
|
rs1197782289
|
|
NM_177550.5(SLC13A5):c.1333C>A (p.Pro445Thr)
|
rs373587508
|
|
NM_177550.5(SLC13A5):c.1349T>C (p.Leu450Ser)
|
|
|
NM_177550.5(SLC13A5):c.1357T>A (p.Ser453Thr)
|
rs2150964801
|
|
NM_177550.5(SLC13A5):c.135G>A (p.Met45Ile)
|
rs1311732049
|
|
NM_177550.5(SLC13A5):c.1362G>C (p.Leu454Phe)
|
rs778880558
|
|
NM_177550.5(SLC13A5):c.1363C>T (p.Leu455Phe)
|
rs1386156410
|
|
NM_177550.5(SLC13A5):c.137C>T (p.Ala46Val)
|
rs762903735
|
|
NM_177550.5(SLC13A5):c.1403C>A (p.Thr468Asn)
|
|
|
NM_177550.5(SLC13A5):c.1405A>G (p.Thr469Ala)
|
rs1475919318
|
|
NM_177550.5(SLC13A5):c.1411T>G (p.Leu471Val)
|
rs1209800037
|
|
NM_177550.5(SLC13A5):c.1414T>C (p.Phe472Leu)
|
|
|
NM_177550.5(SLC13A5):c.1423A>G (p.Ile475Val)
|
|
|
NM_177550.5(SLC13A5):c.1437G>A (p.Met479Ile)
|
|
|
NM_177550.5(SLC13A5):c.1438-3C>A
|
|
|
NM_177550.5(SLC13A5):c.1438-4G>T
|
|
|
NM_177550.5(SLC13A5):c.1438T>C (p.Ser480Pro)
|
rs2150961873
|
|
NM_177550.5(SLC13A5):c.1445C>T (p.Ser482Phe)
|
rs1236635295
|
|
NM_177550.5(SLC13A5):c.1454T>C (p.Leu485Pro)
|
rs148049520
|
|
NM_177550.5(SLC13A5):c.1457A>G (p.Asn486Ser)
|
|
|
NM_177550.5(SLC13A5):c.1462C>A (p.Leu488Met)
|
rs754295995
|
|
NM_177550.5(SLC13A5):c.1471A>C (p.Met491Leu)
|
|
|
NM_177550.5(SLC13A5):c.1483_1491del (p.Thr495_Ser497del)
|
rs1255190713
|
|
NM_177550.5(SLC13A5):c.1484C>T (p.Thr495Ile)
|
|
|
NM_177550.5(SLC13A5):c.1511del (p.Leu504fs)
|
rs1211773372
|
|
NM_177550.5(SLC13A5):c.1519G>T (p.Ala507Ser)
|
|
|
NM_177550.5(SLC13A5):c.1558C>T (p.Leu520Phe)
|
rs779246920
|
|
NM_177550.5(SLC13A5):c.1564G>A (p.Val522Ile)
|
rs1221511903
|
|
NM_177550.5(SLC13A5):c.1573A>C (p.Met525Leu)
|
|
|
NM_177550.5(SLC13A5):c.1575+4A>T
|
|
|
NM_177550.5(SLC13A5):c.1585G>A (p.Gly529Arg)
|
|
|
NM_177550.5(SLC13A5):c.1599C>A (p.Asn533Lys)
|
rs1973250595
|
|
NM_177550.5(SLC13A5):c.1600A>G (p.Ile534Val)
|
rs1973250507
|
|
NM_177550.5(SLC13A5):c.1602A>G (p.Ile534Met)
|
|
|
NM_177550.5(SLC13A5):c.1606G>A (p.Gly536Arg)
|
|
|
NM_177550.5(SLC13A5):c.1615T>C (p.Cys539Arg)
|
rs1597651569
|
|
NM_177550.5(SLC13A5):c.1622T>C (p.Phe541Ser)
|
|
|
NM_177550.5(SLC13A5):c.1622T>G (p.Phe541Cys)
|
|
|
NM_177550.5(SLC13A5):c.1643G>A (p.Gly548Glu)
|
|
|
NM_177550.5(SLC13A5):c.1654T>A (p.Phe552Ile)
|
rs1453393447
|
|
NM_177550.5(SLC13A5):c.1687G>A (p.Val563Met)
|
rs1973247421
|
|
NM_177550.5(SLC13A5):c.1696_1697del (p.His565_Ile566insTer)
|
rs1311685227
|
|
NM_177550.5(SLC13A5):c.169G>T (p.Ala57Ser)
|
rs1223073326
|
|
NM_177550.5(SLC13A5):c.1705T>C (p.Ter569Gln)
|
rs2150960732
|
|
NM_177550.5(SLC13A5):c.175_192del (p.Thr59_Val64del)
|
rs1973889353
|
|
NM_177550.5(SLC13A5):c.178T>C (p.Ser60Pro)
|
rs1973889704
|
|
NM_177550.5(SLC13A5):c.190G>A (p.Val64Ile)
|
rs376024540
|
|
NM_177550.5(SLC13A5):c.20A>G (p.Tyr7Cys)
|
rs568118247
|
|
NM_177550.5(SLC13A5):c.215T>C (p.Ile72Thr)
|
|
|
NM_177550.5(SLC13A5):c.221A>G (p.Asp74Gly)
|
|
|
NM_177550.5(SLC13A5):c.239T>C (p.Val80Ala)
|
rs930818882
|
|
NM_177550.5(SLC13A5):c.245A>G (p.Tyr82Cys)
|
rs747526311
|
|
NM_177550.5(SLC13A5):c.248T>G (p.Met83Arg)
|
rs1973877779
|
|
NM_177550.5(SLC13A5):c.253G>A (p.Asp85Asn)
|
rs2151498276
|
|
NM_177550.5(SLC13A5):c.25T>G (p.Ser9Ala)
|
rs2151505845
|
|
NM_177550.5(SLC13A5):c.262A>C (p.Met88Leu)
|
rs919457838
|
|
NM_177550.5(SLC13A5):c.272T>C (p.Leu91Pro)
|
rs1555543400
|
|
NM_177550.5(SLC13A5):c.285CGTGGC[3] (p.97AV[3])
|
rs1555543390
|
|
NM_177550.5(SLC13A5):c.289G>A (p.Ala97Thr)
|
rs1597676768
|
|
NM_177550.5(SLC13A5):c.304C>T (p.Arg102Cys)
|
rs1435998726
|
|
NM_177550.5(SLC13A5):c.312C>A (p.Asn104Lys)
|
rs750520927
|
|
NM_177550.5(SLC13A5):c.313C>A (p.Leu105Met)
|
rs765334582
|
|
NM_177550.5(SLC13A5):c.325A>G (p.Ile109Val)
|
rs1973874074
|
|
NM_177550.5(SLC13A5):c.327C>G (p.Ile109Met)
|
rs761010502
|
|
NM_177550.5(SLC13A5):c.334C>T (p.Arg112Cys)
|
rs372771266
|
|
NM_177550.5(SLC13A5):c.356C>A (p.Ala119Asp)
|
|
|
NM_177550.5(SLC13A5):c.362C>T (p.Pro121Leu)
|
rs1973871631
|
|
NM_177550.5(SLC13A5):c.367C>T (p.Arg123Trp)
|
rs754937425
|
|
NM_177550.5(SLC13A5):c.369-2A>G
|
rs1973796030
|
|
NM_177550.5(SLC13A5):c.382T>C (p.Phe128Leu)
|
rs771925824
|
|
NM_177550.5(SLC13A5):c.393C>T (p.Val131=)
|
|
|
NM_177550.5(SLC13A5):c.3G>A (p.Met1Ile)
|
rs1597686195
|
|
NM_177550.5(SLC13A5):c.40T>C (p.Phe14Leu)
|
rs1974091514
|
|
NM_177550.5(SLC13A5):c.429_437del (p.Thr144_Ala146del)
|
rs769931974
|
|
NM_177550.5(SLC13A5):c.434C>A (p.Thr145Lys)
|
rs1202091819
|
|
NM_177550.5(SLC13A5):c.436G>C (p.Ala146Pro)
|
|
|
NM_177550.5(SLC13A5):c.43G>A (p.Val15Met)
|
rs1223974189
|
|
NM_177550.5(SLC13A5):c.451A>G (p.Ile151Val)
|
|
|
NM_177550.5(SLC13A5):c.454G>A (p.Val152Met)
|
|
|
NM_177550.5(SLC13A5):c.454G>C (p.Val152Leu)
|
|
|
NM_177550.5(SLC13A5):c.485_487dup (p.Thr162dup)
|
rs748215544
|
|
NM_177550.5(SLC13A5):c.487A>G (p.Ser163Gly)
|
rs1973790070
|
|
NM_177550.5(SLC13A5):c.499G>C (p.Glu167Gln)
|
rs373010067
|
|
NM_177550.5(SLC13A5):c.503C>T (p.Ala168Val)
|
|
|
NM_177550.5(SLC13A5):c.512A>G (p.Glu171Gly)
|
rs1412352155
|
|
NM_177550.5(SLC13A5):c.517G>A (p.Val173Met)
|
rs2151494980
|
|
NM_177550.5(SLC13A5):c.51G>C (p.Leu17Phe)
|
rs941552722
|
|
NM_177550.5(SLC13A5):c.522C>G (p.Asp174Glu)
|
rs1160099071
|
|
NM_177550.5(SLC13A5):c.526G>T (p.Gly176Cys)
|
rs1973787933
|
|
NM_177550.5(SLC13A5):c.547+6C>A
|
|
|
NM_177550.5(SLC13A5):c.568G>A (p.Gly190Ser)
|
rs1973761446
|
|
NM_177550.5(SLC13A5):c.601C>T (p.Arg201Trp)
|
rs142320179
|
|
NM_177550.5(SLC13A5):c.608G>A (p.Arg203Lys)
|
|
|
NM_177550.5(SLC13A5):c.61C>G (p.Pro21Ala)
|
rs1567628652
|
|
NM_177550.5(SLC13A5):c.623T>C (p.Met208Thr)
|
rs1973759255
|
|
NM_177550.5(SLC13A5):c.629T>C (p.Leu210Pro)
|
|
|
NM_177550.5(SLC13A5):c.643G>A (p.Ala215Thr)
|
rs1271011718
|
|
NM_177550.5(SLC13A5):c.644C>T (p.Ala215Val)
|
rs777563695
|
|
NM_177550.5(SLC13A5):c.659G>A (p.Gly220Asp)
|
rs2151493922
|
|
NM_177550.5(SLC13A5):c.664G>A (p.Ala222Thr)
|
rs201674669
|
|
NM_177550.5(SLC13A5):c.714C>A (p.Asn238Lys)
|
rs754553205
|
|
NM_177550.5(SLC13A5):c.715G>A (p.Glu239Lys)
|
|
|
NM_177550.5(SLC13A5):c.716+5G>A
|
rs1057518298
|
|
NM_177550.5(SLC13A5):c.716A>G (p.Glu239Gly)
|
rs1973754222
|
|
NM_177550.5(SLC13A5):c.723T>G (p.Phe241Leu)
|
|
|
NM_177550.5(SLC13A5):c.737A>G (p.Asp246Gly)
|
rs778721131
|
|
NM_177550.5(SLC13A5):c.748T>C (p.Phe250Leu)
|
rs2151492071
|
|
NM_177550.5(SLC13A5):c.761T>G (p.Phe254Cys)
|
rs763190407
|
|
NM_177550.5(SLC13A5):c.781A>G (p.Met261Val)
|
|
|
NM_177550.5(SLC13A5):c.785T>C (p.Leu262Pro)
|
rs1973699059
|
|
NM_177550.5(SLC13A5):c.807G>T (p.Trp269Cys)
|
|
|
NM_177550.5(SLC13A5):c.831G>A (p.Met277Ile)
|
rs1973697429
|
|
NM_177550.5(SLC13A5):c.839+4A>C
|
rs1973697168
|
|
NM_177550.5(SLC13A5):c.872G>A (p.Ser291Asn)
|
|
|
NM_177550.5(SLC13A5):c.882C>A (p.Asn294Lys)
|
|
|
NM_177550.5(SLC13A5):c.883G>A (p.Glu295Lys)
|
rs749077002
|
|
NM_177550.5(SLC13A5):c.889G>A (p.Ala297Thr)
|
rs1057524830
|
|
NM_177550.5(SLC13A5):c.89T>C (p.Leu30Pro)
|
|
|
NM_177550.5(SLC13A5):c.8C>G (p.Ser3Trp)
|
|
|
NM_177550.5(SLC13A5):c.919C>G (p.Arg307Gly)
|
rs769595777
|
|
NM_177550.5(SLC13A5):c.919C>T (p.Arg307Trp)
|
rs769595777
|
|
NM_177550.5(SLC13A5):c.944C>A (p.Ala315Glu)
|
rs138841868
|
|
NM_177550.5(SLC13A5):c.949A>T (p.Ile317Phe)
|
|
|
NM_177550.5(SLC13A5):c.98C>A (p.Ala33Asp)
|
|
|
NM_177550.5(SLC13A5):c.9G>A (p.Ser3=)
|
rs1318559097
|
|
NM_177965.4(CFAP418):c.*1151A>G
|
rs374730084
|
|
NM_177965.4(CFAP418):c.*155G>T
|
rs1811639972
|
|
NM_177965.4(CFAP418):c.*1607T>C
|
rs1811615650
|
|
NM_177965.4(CFAP418):c.*1628A>T
|
rs937969592
|
|
NM_177965.4(CFAP418):c.*1687T>A
|
rs886063191
|
|
NM_177965.4(CFAP418):c.*1904G>A
|
rs929327663
|
|
NM_177965.4(CFAP418):c.*2017C>G
|
rs550269782
|
|
NM_177965.4(CFAP418):c.*2212C>G
|
rs79305170
|
|
NM_177965.4(CFAP418):c.*2212C>T
|
rs79305170
|
|
NM_177965.4(CFAP418):c.*249T>C
|
rs949281785
|
|
NM_177965.4(CFAP418):c.*863C>T
|
rs997427905
|
|
NM_177965.4(CFAP418):c.*944A>C
|
rs886063194
|
|
NM_177965.4(CFAP418):c.*965C>G
|
rs886063193
|
|
NM_177965.4(CFAP418):c.-5T>C
|
rs886063195
|
|
NM_177965.4(CFAP418):c.15G>A (p.Leu5=)
|
rs1308193454
|
|
NM_177965.4(CFAP418):c.317C>T (p.Pro106Leu)
|
rs376587956
|
|
NM_177965.4(CFAP418):c.331G>A (p.Gly111Arg)
|
rs757837788
|
|
NM_177965.4(CFAP418):c.3G>A (p.Met1Ile)
|
rs1249678588
|
|
NM_177965.4(CFAP418):c.422G>A (p.Ser141Asn)
|
rs2132155183
|
|
NM_177965.4(CFAP418):c.43A>G (p.Lys15Glu)
|
rs1023654494
|
|
NM_177965.4(CFAP418):c.449C>G (p.Ser150Trp)
|
rs149558233
|
|
NM_177965.4(CFAP418):c.498A>G (p.Leu166=)
|
rs1811644695
|
|
NM_177965.4(CFAP418):c.598C>A (p.Leu200Ile)
|
rs1332256474
|
|
NM_177965.4(CFAP418):c.602G>C (p.Arg201Pro)
|
rs115660509
|
|
NM_177965.4(CFAP418):c.94G>A (p.Gly32Ser)
|
rs779716988
|
|
NM_177972.3(TUB):c.115AAG[2] (p.Lys41del)
|
rs749961508
|
|
NM_177972.3(TUB):c.1425G>C (p.Glu475Asp)
|
|
|
NM_177972.3(TUB):c.293C>T (p.Ala98Val)
|
rs909748733
|
|
NM_177972.3(TUB):c.722A>G (p.Glu241Gly)
|
|
|
NM_177972.3(TUB):c.728C>T (p.Pro243Leu)
|
rs1944038804
|
|
NM_177972.3(TUB):c.885+7T>C
|
rs776753352
|
|
NM_177976.3(ARL6):c.-371A>G
|
rs754624462
|
|
NM_178857.6(RP1L1):c.5821C>T (p.Gln1941Ter)
|
rs201017122
|
|
NM_178857.6(RP1L1):c.5929G>C (p.Val1977Leu)
|
rs534151176
|
|
NM_182894.3(VSX2):c.455G>A (p.Arg152Lys)
|
rs1566883262
|
|
NM_183050.3(BCKDHB):c.-41C>T
|
rs763746493
|
|
NM_183050.4(BCKDHB):c.*1008T>C
|
rs1283478954
|
|
NM_183050.4(BCKDHB):c.*1143A>G
|
rs1770126804
|
|
NM_183050.4(BCKDHB):c.*1162T>C
|
rs886061812
|
|
NM_183050.4(BCKDHB):c.*1239dup
|
rs772846294
|
|
NM_183050.4(BCKDHB):c.*1279A>G
|
rs1770137265
|
|
NM_183050.4(BCKDHB):c.*13G>A
|
rs398124559
|
|
NM_183050.4(BCKDHB):c.*1909T>C
|
rs529166544
|
|
NM_183050.4(BCKDHB):c.*2224dup
|
rs757446051
|
|
NM_183050.4(BCKDHB):c.*501A>G
|
rs1770079109
|
|
NM_183050.4(BCKDHB):c.*540T>C
|
rs201154827
|
|
NM_183050.4(BCKDHB):c.*559_*560dup
|
rs10579475
|
|
NM_183050.4(BCKDHB):c.*560dup
|
rs10579475
|
|
NM_183050.4(BCKDHB):c.*777G>C
|
rs954822411
|
|
NM_183050.4(BCKDHB):c.-15C>T
|
rs747088249
|
|
NM_183050.4(BCKDHB):c.100G>A (p.Gly34Ser)
|
|
|
NM_183050.4(BCKDHB):c.1038+5A>T
|
|
|
NM_183050.4(BCKDHB):c.1039-10C>G
|
rs760262704
|
|
NM_183050.4(BCKDHB):c.1039-10_1039-9del
|
|
|
NM_183050.4(BCKDHB):c.1039-9dup
|
rs2128020517
|
|
NM_183050.4(BCKDHB):c.1042G>A (p.Glu348Lys)
|
rs989873156
|
|
NM_183050.4(BCKDHB):c.1046G>A (p.Cys349Tyr)
|
rs398124562
|
|
NM_183050.4(BCKDHB):c.1070T>C (p.Ile357Thr)
|
rs2128020569
|
|
NM_183050.4(BCKDHB):c.1097C>T (p.Pro366Leu)
|
rs1770038350
|
|
NM_183050.4(BCKDHB):c.10G>A (p.Val4Ile)
|
rs774255890
|
|
NM_183050.4(BCKDHB):c.1112T>C (p.Phe371Ser)
|
rs750930993
|
|
NM_183050.4(BCKDHB):c.1115A>T (p.Glu372Val)
|
rs1554216344
|
|
NM_183050.4(BCKDHB):c.1130C>T (p.Pro377Leu)
|
rs1554216354
|
|
NM_183050.4(BCKDHB):c.1133A>G (p.Asp378Gly)
|
rs1185514016
|
|
NM_183050.4(BCKDHB):c.1162A>G (p.Lys388Glu)
|
|
|
NM_183050.4(BCKDHB):c.1175A>G (p.Tyr392Cys)
|
|
|
NM_183050.4(BCKDHB):c.131A>G (p.Asp44Gly)
|
rs2127699100
|
|
NM_183050.4(BCKDHB):c.171G>C (p.Gln57His)
|
rs773031829
|
|
NM_183050.4(BCKDHB):c.173C>G (p.Pro58Arg)
|
|
|
NM_183050.4(BCKDHB):c.193T>G (p.Tyr65Asp)
|
rs1209549339
|
|
NM_183050.4(BCKDHB):c.196+5G>A
|
rs398124568
|
|
NM_183050.4(BCKDHB):c.19G>A (p.Ala7Thr)
|
|
|
NM_183050.4(BCKDHB):c.200A>G (p.Gln67Arg)
|
rs2127726102
|
|
NM_183050.4(BCKDHB):c.203C>T (p.Thr68Ile)
|
|
|
NM_183050.4(BCKDHB):c.238G>A (p.Ala80Thr)
|
|
|
NM_183050.4(BCKDHB):c.23C>G (p.Ala8Gly)
|
|
|
NM_183050.4(BCKDHB):c.274+5C>T
|
rs1770414545
|
|
NM_183050.4(BCKDHB):c.293T>G (p.Val98Gly)
|
rs869312126
|
|
NM_183050.4(BCKDHB):c.301G>A (p.Gly101Ser)
|
rs1770499193
|
|
NM_183050.4(BCKDHB):c.315A>G (p.Arg105=)
|
rs1770499965
|
|
NM_183050.4(BCKDHB):c.320C>G (p.Thr107Ser)
|
|
|
NM_183050.4(BCKDHB):c.338A>G (p.Lys113Arg)
|
rs770263755
|
|
NM_183050.4(BCKDHB):c.33A>T (p.Leu11=)
|
rs755140913
|
|
NM_183050.4(BCKDHB):c.343+2dup
|
|
|
NM_183050.4(BCKDHB):c.349G>A (p.Asp117Asn)
|
|
|
NM_183050.4(BCKDHB):c.365C>A (p.Thr122Asn)
|
rs398124575
|
|
NM_183050.4(BCKDHB):c.367C>T (p.Pro123Ser)
|
|
|
NM_183050.4(BCKDHB):c.36C>G (p.Leu12=)
|
rs1464497822
|
|
NM_183050.4(BCKDHB):c.37A>G (p.Arg13Gly)
|
|
|
NM_183050.4(BCKDHB):c.389T>C (p.Val130Ala)
|
|
|
NM_183050.4(BCKDHB):c.398G>A (p.Gly133Glu)
|
rs1772648897
|
|
NM_183050.4(BCKDHB):c.410C>A (p.Ala137Glu)
|
rs776631396
|
|
NM_183050.4(BCKDHB):c.444G>C (p.Gln148His)
|
rs2127773506
|
|
NM_183050.4(BCKDHB):c.454T>G (p.Tyr152Asp)
|
rs2127773518
|
|
NM_183050.4(BCKDHB):c.464_465delinsGG (p.Pro155Arg)
|
rs2127773530
|
|
NM_183050.4(BCKDHB):c.47C>A (p.Ala16Glu)
|
rs537680296
|
|
NM_183050.4(BCKDHB):c.497A>T (p.Lys166Met)
|
|
|
NM_183050.4(BCKDHB):c.509G>C (p.Arg170Pro)
|
rs371518124
|
|
NM_183050.4(BCKDHB):c.517G>T (p.Asp173Tyr)
|
rs1554189815
|
|
NM_183050.4(BCKDHB):c.51A>C (p.Ala17=)
|
rs376293687
|
|
NM_183050.4(BCKDHB):c.51A>G (p.Ala17=)
|
rs376293687
|
|
NM_183050.4(BCKDHB):c.569G>C (p.Gly190Ala)
|
|
|
NM_183050.4(BCKDHB):c.56C>T (p.Ala19Val)
|
|
|
NM_183050.4(BCKDHB):c.593A>T (p.Gln198Leu)
|
|
|
NM_183050.4(BCKDHB):c.599C>T (p.Pro200Leu)
|
rs1554189861
|
|
NM_183050.4(BCKDHB):c.604G>A (p.Ala202Thr)
|
|
|
NM_183050.4(BCKDHB):c.617A>C (p.His206Pro)
|
rs1562104694
|
|
NM_183050.4(BCKDHB):c.637G>T (p.Val213Phe)
|
rs994415333
|
|
NM_183050.4(BCKDHB):c.673C>G (p.Leu225Val)
|
|
|
NM_183050.4(BCKDHB):c.674T>C (p.Leu225Pro)
|
rs398124590
|
|
NM_183050.4(BCKDHB):c.686T>C (p.Ile229Thr)
|
|
|
NM_183050.4(BCKDHB):c.726A>G (p.Ile242Met)
|
|
|
NM_183050.4(BCKDHB):c.757A>C (p.Ile253Leu)
|
|
|
NM_183050.4(BCKDHB):c.772A>T (p.Ile258Phe)
|
|
|
NM_183050.4(BCKDHB):c.77T>C (p.Leu26Pro)
|
rs1769081318
|
|
NM_183050.4(BCKDHB):c.790G>A (p.Glu264Lys)
|
|
|
NM_183050.4(BCKDHB):c.794T>C (p.Val265Ala)
|
|
|
NM_183050.4(BCKDHB):c.796A>G (p.Ile266Val)
|
|
|
NM_183050.4(BCKDHB):c.812A>C (p.Asp271Ala)
|
rs2127823416
|
|
NM_183050.4(BCKDHB):c.821T>C (p.Leu274Pro)
|
rs1582342243
|
|
NM_183050.4(BCKDHB):c.827C>G (p.Ala276Gly)
|
rs1774369297
|
|
NM_183050.4(BCKDHB):c.835A>G (p.Thr279Ala)
|
rs775427993
|
|
NM_183050.4(BCKDHB):c.845A>C (p.His282Pro)
|
|
|
NM_183050.4(BCKDHB):c.862G>C (p.Ala288Pro)
|
rs1210713694
|
|
NM_183050.4(BCKDHB):c.885del (p.Gly296fs)
|
rs398124599
|
|
NM_183050.4(BCKDHB):c.8_19dup (p.Val3_Ala6dup)
|
rs1554180793
|
|
NM_183050.4(BCKDHB):c.931G>C (p.Asp311His)
|
rs1246984003
|
|
NM_183050.4(BCKDHB):c.943A>G (p.Ile315Val)
|
|
|
NM_183050.4(BCKDHB):c.951+4T>C
|
rs778135997
|
|
NM_183050.4(BCKDHB):c.953C>T (p.Ser318Phe)
|
rs1562193767
|
|
NM_183050.4(BCKDHB):c.968G>C (p.Gly323Ala)
|
|
|
NM_183050.4(BCKDHB):c.971G>A (p.Arg324Gln)
|
|
|
NM_183050.4(BCKDHB):c.974T>G (p.Leu325Arg)
|
rs398124604
|
|
NM_183050.4(BCKDHB):c.989A>G (p.Glu330Gly)
|
rs769446376
|
|
NM_183050.4(BCKDHB):c.98G>A (p.Arg33Gln)
|
|
|
NM_183050.4(BCKDHB):c.995C>T (p.Pro332Leu)
|
rs1554205541
|
|
NM_194279.4(ISCA2):c.314G>T (p.Arg105Ile)
|
|
|
NM_194279.4(ISCA2):c.355G>A (p.Ala119Thr)
|
rs1595231072
|
|
NM_194279.4(ISCA2):c.422A>T (p.Gln141Leu)
|
|
|
NM_199292.2(TH):c.-69T>A
|
rs1554924394
|
|
NM_201253.2(CRB1):c.-204C>T
|
rs544047392
|
|
NM_201253.3(CRB1):c.*81C>A
|
rs192819758
|
|
NM_201253.3(CRB1):c.*99G>T
|
rs1429931885
|
|
NM_201253.3(CRB1):c.-56C>G
|
rs1654712316
|
|
NM_201253.3(CRB1):c.1000G>A (p.Ala334Thr)
|
rs2125354252
|
|
NM_201253.3(CRB1):c.1005G>T (p.Gln335His)
|
|
|
NM_201253.3(CRB1):c.1010A>G (p.Glu337Gly)
|
rs2125354280
|
|
NM_201253.3(CRB1):c.1023T>A (p.Asn341Lys)
|
rs1064797127
|
|
NM_201253.3(CRB1):c.1027T>C (p.Cys343Arg)
|
rs2125354340
|
|
NM_201253.3(CRB1):c.1030A>C (p.Asn344His)
|
|
|
NM_201253.3(CRB1):c.1042T>C (p.Cys348Arg)
|
rs2125354412
|
|
NM_201253.3(CRB1):c.1048T>C (p.Ser350Pro)
|
|
|
NM_201253.3(CRB1):c.1061G>A (p.Cys354Tyr)
|
|
|
NM_201253.3(CRB1):c.1093C>T (p.Arg365Cys)
|
rs116347915
|
|
NM_201253.3(CRB1):c.1094G>A (p.Arg365His)
|
rs777528044
|
|
NM_201253.3(CRB1):c.1094_1095delinsCT (p.Arg365Pro)
|
rs1660512789
|
|
NM_201253.3(CRB1):c.1100C>T (p.Thr367Ile)
|
rs764225776
|
|
NM_201253.3(CRB1):c.1109CTT[2] (p.Ser372del)
|
|
|
NM_201253.3(CRB1):c.1110_1111delinsGC (p.Ser371Pro)
|
rs1660514556
|
|
NM_201253.3(CRB1):c.1123T>C (p.Tyr375His)
|
|
|
NM_201253.3(CRB1):c.1145T>C (p.Val382Ala)
|
|
|
NM_201253.3(CRB1):c.1183G>A (p.Glu395Lys)
|
|
|
NM_201253.3(CRB1):c.1186G>A (p.Glu396Lys)
|
|
|
NM_201253.3(CRB1):c.1196A>G (p.Asn399Ser)
|
|
|
NM_201253.3(CRB1):c.1204T>C (p.Ser402Pro)
|
|
|
NM_201253.3(CRB1):c.1204T>G (p.Ser402Ala)
|
rs781359016
|
|
NM_201253.3(CRB1):c.1235G>T (p.Cys412Phe)
|
rs2125468972
|
|
NM_201253.3(CRB1):c.1253A>C (p.Asn418Thr)
|
rs539152735
|
|
NM_201253.3(CRB1):c.1258A>G (p.Thr420Ala)
|
|
|
NM_201253.3(CRB1):c.1268G>A (p.Cys423Tyr)
|
rs2125469069
|
|
NM_201253.3(CRB1):c.1278T>G (p.Asp426Glu)
|
|
|
NM_201253.3(CRB1):c.1313G>A (p.Cys438Tyr)
|
rs1571522690
|
|
NM_201253.3(CRB1):c.1331G>A (p.Gly444Asp)
|
|
|
NM_201253.3(CRB1):c.1337C>A (p.Thr446Asn)
|
rs1215864611
|
|
NM_201253.3(CRB1):c.1360G>A (p.Gly454Arg)
|
|
|
NM_201253.3(CRB1):c.137A>C (p.Lys46Thr)
|
|
|
NM_201253.3(CRB1):c.140A>G (p.Asp47Gly)
|
rs1240979285
|
|
NM_201253.3(CRB1):c.1426A>G (p.Thr476Ala)
|
rs1553260314
|
|
NM_201253.3(CRB1):c.142T>A (p.Phe48Ile)
|
rs765448599
|
|
NM_201253.3(CRB1):c.1447G>C (p.Ala483Pro)
|
|
|
NM_201253.3(CRB1):c.1468G>C (p.Gly490Arg)
|
rs1450685360
|
|
NM_201253.3(CRB1):c.1472A>T (p.Asp491Val)
|
rs1664299898
|
|
NM_201253.3(CRB1):c.1474G>A (p.Gly492Ser)
|
|
|
NM_201253.3(CRB1):c.1534C>G (p.Leu512Val)
|
rs1664304309
|
|
NM_201253.3(CRB1):c.1538G>T (p.Arg513Met)
|
rs1571523673
|
|
NM_201253.3(CRB1):c.1544A>T (p.Gln515Leu)
|
rs2125469961
|
|
NM_201253.3(CRB1):c.1580G>A (p.Ser527Asn)
|
|
|
NM_201253.3(CRB1):c.1613T>A (p.Leu538Gln)
|
rs1664310357
|
|
NM_201253.3(CRB1):c.1622A>G (p.Tyr541Cys)
|
|
|
NM_201253.3(CRB1):c.1625T>C (p.Ile542Thr)
|
rs2125470239
|
|
NM_201253.3(CRB1):c.1637T>C (p.Ile546Thr)
|
rs1427090221
|
|
NM_201253.3(CRB1):c.1661T>G (p.Val554Gly)
|
|
|
NM_201253.3(CRB1):c.1664T>C (p.Leu555Pro)
|
|
|
NM_201253.3(CRB1):c.1685C>T (p.Thr562Ile)
|
|
|
NM_201253.3(CRB1):c.1687A>G (p.Ser563Gly)
|
rs1193275021
|
|
NM_201253.3(CRB1):c.1699T>C (p.Trp567Arg)
|
rs886043472
|
|
NM_201253.3(CRB1):c.1704T>A (p.His568Gln)
|
|
|
NM_201253.3(CRB1):c.1708G>A (p.Val570Met)
|
rs754482666
|
|
NM_201253.3(CRB1):c.1712A>C (p.Glu571Ala)
|
rs773233587
|
|
NM_201253.3(CRB1):c.1733T>A (p.Val578Glu)
|
rs1266363944
|
|
NM_201253.3(CRB1):c.1738C>T (p.Leu580Phe)
|
rs761775378
|
|
NM_201253.3(CRB1):c.1755C>A (p.Asp585Glu)
|
rs1034422363
|
|
NM_201253.3(CRB1):c.176C>T (p.Thr59Ile)
|
rs1284729199
|
|
NM_201253.3(CRB1):c.1775T>C (p.Ile592Thr)
|
|
|
NM_201253.3(CRB1):c.1778C>G (p.Ala593Gly)
|
rs1447630642
|
|
NM_201253.3(CRB1):c.1783G>A (p.Ala595Thr)
|
rs752212470
|
|
NM_201253.3(CRB1):c.1783G>C (p.Ala595Pro)
|
rs752212470
|
|
NM_201253.3(CRB1):c.1783G>T (p.Ala595Ser)
|
rs752212470
|
|
NM_201253.3(CRB1):c.1786C>A (p.Pro596Thr)
|
|
|
NM_201253.3(CRB1):c.1810T>G (p.Ser604Ala)
|
rs1664329175
|
|
NM_201253.3(CRB1):c.1817G>A (p.Cys606Tyr)
|
|
|
NM_201253.3(CRB1):c.1838_1840dup (p.Leu613_Gly614insVal)
|
rs2125471114
|
|
NM_201253.3(CRB1):c.1852G>A (p.Val618Met)
|
rs1169856523
|
|
NM_201253.3(CRB1):c.1873G>A (p.Val625Ile)
|
|
|
NM_201253.3(CRB1):c.1878T>C (p.Ala626=)
|
rs1413323140
|
|
NM_201253.3(CRB1):c.1879C>G (p.Leu627Val)
|
|
|
NM_201253.3(CRB1):c.1903T>A (p.Ser635Thr)
|
|
|
NM_201253.3(CRB1):c.1903T>C (p.Ser635Pro)
|
|
|
NM_201253.3(CRB1):c.1910C>T (p.Pro637Leu)
|
rs1238001290
|
|
NM_201253.3(CRB1):c.1922G>C (p.Gly641Ala)
|
rs2125471502
|
|
NM_201253.3(CRB1):c.1922G>T (p.Gly641Val)
|
|
|
NM_201253.3(CRB1):c.1936A>C (p.Ile646Leu)
|
rs757884719
|
|
NM_201253.3(CRB1):c.1958T>G (p.Ile653Ser)
|
rs1336674793
|
|
NM_201253.3(CRB1):c.1996G>A (p.Val666Ile)
|
|
|
NM_201253.3(CRB1):c.2003C>T (p.Ala668Val)
|
|
|
NM_201253.3(CRB1):c.200G>C (p.Cys67Ser)
|
rs749112809
|
|
NM_201253.3(CRB1):c.2036A>C (p.Gln679Pro)
|
|
|
NM_201253.3(CRB1):c.2043T>G (p.Cys681Trp)
|
rs2125471930
|
|
NM_201253.3(CRB1):c.2056C>T (p.Arg686Cys)
|
rs1204363918
|
|
NM_201253.3(CRB1):c.2057G>A (p.Arg686His)
|
rs1281817527
|
|
NM_201253.3(CRB1):c.2066A>G (p.Asn689Ser)
|
rs1664351600
|
|
NM_201253.3(CRB1):c.2129A>G (p.Glu710Gly)
|
rs145282040
|
|
NM_201253.3(CRB1):c.2137G>A (p.Ala713Thr)
|
rs2125483533
|
|
NM_201253.3(CRB1):c.2141G>A (p.Gly714Asp)
|
rs2125483555
|
|
NM_201253.3(CRB1):c.2158G>A (p.Asp720Asn)
|
|
|
NM_201253.3(CRB1):c.2159A>G (p.Asp720Gly)
|
|
|
NM_201253.3(CRB1):c.2168G>T (p.Gly723Val)
|
rs759961722
|
|
NM_201253.3(CRB1):c.2174T>A (p.Val725Asp)
|
|
|
NM_201253.3(CRB1):c.2174T>C (p.Val725Ala)
|
|
|
NM_201253.3(CRB1):c.218C>T (p.Pro73Leu)
|
|
|
NM_201253.3(CRB1):c.2196C>G (p.Ser732Arg)
|
|
|
NM_201253.3(CRB1):c.2198A>G (p.Tyr733Cys)
|
|
|
NM_201253.3(CRB1):c.222C>G (p.Cys74Trp)
|
rs772819260
|
|
NM_201253.3(CRB1):c.2243C>T (p.Pro748Leu)
|
rs1664651920
|
|
NM_201253.3(CRB1):c.2254C>T (p.Leu752Phe)
|
rs2125483936
|
|
NM_201253.3(CRB1):c.2272A>G (p.Ser758Gly)
|
|
|
NM_201253.3(CRB1):c.2275A>G (p.Thr759Ala)
|
rs1485086776
|
|
NM_201253.3(CRB1):c.2278T>A (p.Tyr760Asn)
|
rs2125484022
|
|
NM_201253.3(CRB1):c.2288T>A (p.Ile763Asn)
|
rs2125484063
|
|
NM_201253.3(CRB1):c.2306G>C (p.Arg769Pro)
|
rs62636287
|
|
NM_201253.3(CRB1):c.2311A>G (p.Arg771Gly)
|
|
|
NM_201253.3(CRB1):c.2327C>T (p.Thr776Ile)
|
rs1293863321
|
|
NM_201253.3(CRB1):c.2329C>G (p.Pro777Ala)
|
|
|
NM_201253.3(CRB1):c.2334C>G (p.Asn778Lys)
|
|
|
NM_201253.3(CRB1):c.2339C>T (p.Pro780Leu)
|
|
|
NM_201253.3(CRB1):c.2340C>T (p.Pro780=)
|
rs2125484301
|
|
NM_201253.3(CRB1):c.2344T>G (p.Leu782Val)
|
|
|
NM_201253.3(CRB1):c.2363T>G (p.Leu788Arg)
|
rs1664662355
|
|
NM_201253.3(CRB1):c.2365_2367del (p.Asn789del)
|
rs1433518605
|
|
NM_201253.3(CRB1):c.2380C>A (p.His794Asn)
|
rs1294237377
|
|
NM_201253.3(CRB1):c.2382C>G (p.His794Gln)
|
|
|
NM_201253.3(CRB1):c.2387T>C (p.Ile796Thr)
|
|
|
NM_201253.3(CRB1):c.238C>G (p.Gln80Glu)
|
rs1658660736
|
|
NM_201253.3(CRB1):c.239A>T (p.Gln80Leu)
|
rs1658660906
|
|
NM_201253.3(CRB1):c.2405C>T (p.Pro802Leu)
|
rs1558132026
|
|
NM_201253.3(CRB1):c.2420T>C (p.Leu807Pro)
|
rs1664667136
|
|
NM_201253.3(CRB1):c.2423A>G (p.Tyr808Cys)
|
rs1009552469
|
|
NM_201253.3(CRB1):c.2459C>T (p.Ser820Phe)
|
|
|
NM_201253.3(CRB1):c.245G>A (p.Ser82Asn)
|
rs1658661237
|
|
NM_201253.3(CRB1):c.2462C>G (p.Thr821Arg)
|
rs142857810
|
|
NM_201253.3(CRB1):c.2479G>A (p.Gly827Arg)
|
rs62636269
|
|
NM_201253.3(CRB1):c.2480G>T (p.Gly827Val)
|
|
|
NM_201253.3(CRB1):c.2489T>A (p.Ile830Asn)
|
rs2125484835
|
|
NM_201253.3(CRB1):c.250A>G (p.Thr84Ala)
|
rs1658661930
|
|
NM_201253.3(CRB1):c.2522C>T (p.Thr841Ile)
|
rs2125484956
|
|
NM_201253.3(CRB1):c.254G>T (p.Cys85Phe)
|
|
|
NM_201253.3(CRB1):c.2552G>C (p.Cys851Ser)
|
|
|
NM_201253.3(CRB1):c.2557C>A (p.Gln853Lys)
|
|
|
NM_201253.3(CRB1):c.2560G>T (p.Asp854Tyr)
|
rs1553261618
|
|
NM_201253.3(CRB1):c.2567G>A (p.Arg856Lys)
|
|
|
NM_201253.3(CRB1):c.2568A>C (p.Arg856Ser)
|
|
|
NM_201253.3(CRB1):c.2570T>G (p.Leu857Arg)
|
rs1664678030
|
|
NM_201253.3(CRB1):c.2573A>G (p.Asn858Ser)
|
rs2125485150
|
|
NM_201253.3(CRB1):c.2582A>C (p.Asn861Thr)
|
rs1664679702
|
|
NM_201253.3(CRB1):c.2603C>T (p.Pro868Leu)
|
rs1664680830
|
|
NM_201253.3(CRB1):c.2612A>G (p.Asn871Ser)
|
|
|
NM_201253.3(CRB1):c.2635G>A (p.Val879Ile)
|
|
|
NM_201253.3(CRB1):c.2639A>G (p.Asn880Ser)
|
rs910489135
|
|
NM_201253.3(CRB1):c.2645C>T (p.Thr882Ile)
|
|
|
NM_201253.3(CRB1):c.2647C>A (p.Gln883Lys)
|
rs2125485481
|
|
NM_201253.3(CRB1):c.2651_2652delinsAT (p.Gly884Asp)
|
rs2125485510
|
|
NM_201253.3(CRB1):c.2668A>G (p.Ser890Gly)
|
|
|
NM_201253.3(CRB1):c.2676+4A>G
|
|
|
NM_201253.3(CRB1):c.2676+5T>C
|
|
|
NM_201253.3(CRB1):c.2677-13C>A
|
|
|
NM_201253.3(CRB1):c.2683C>A (p.Pro895Thr)
|
rs781635398
|
|
NM_201253.3(CRB1):c.2696G>T (p.Gly899Val)
|
rs1254393801
|
|
NM_201253.3(CRB1):c.2698G>A (p.Gly900Ser)
|
rs2125488768
|
|
NM_201253.3(CRB1):c.2727C>A (p.Phe909Leu)
|
|
|
NM_201253.3(CRB1):c.2779T>C (p.Trp927Arg)
|
|
|
NM_201253.3(CRB1):c.2784T>G (p.Cys928Trp)
|
|
|
NM_201253.3(CRB1):c.2805C>A (p.His935Gln)
|
rs767706271
|
|
NM_201253.3(CRB1):c.2806G>A (p.Gly936Arg)
|
|
|
NM_201253.3(CRB1):c.2822C>T (p.Pro941Leu)
|
|
|
NM_201253.3(CRB1):c.2824G>A (p.Val942Met)
|
|
|
NM_201253.3(CRB1):c.2839G>A (p.Glu947Lys)
|
rs574162883
|
|
NM_201253.3(CRB1):c.2839G>C (p.Glu947Gln)
|
|
|
NM_201253.3(CRB1):c.2843-4_2843-2del
|
|
|
NM_201253.3(CRB1):c.2849C>T (p.Ala950Val)
|
rs1665039717
|
|
NM_201253.3(CRB1):c.2863A>C (p.Asn955His)
|
rs886045785
|
|
NM_201253.3(CRB1):c.2867G>T (p.Gly956Val)
|
rs267598279
|
|
NM_201253.3(CRB1):c.2874C>A (p.Ser958Arg)
|
rs372778560
|
|
NM_201253.3(CRB1):c.2883ATT[1] (p.Leu962del)
|
rs62645745
|
|
NM_201253.3(CRB1):c.2889C>G (p.Phe963Leu)
|
rs905306614
|
|
NM_201253.3(CRB1):c.2909C>T (p.Thr970Ile)
|
rs766793013
|
|
NM_201253.3(CRB1):c.2914G>C (p.Glu972Gln)
|
rs1665045248
|
|
NM_201253.3(CRB1):c.2917C>G (p.Leu973Val)
|
rs886045786
|
|
NM_201253.3(CRB1):c.2930C>A (p.Thr977Lys)
|
rs1665046846
|
|
NM_201253.3(CRB1):c.2939T>A (p.Phe980Tyr)
|
rs1665047363
|
|
NM_201253.3(CRB1):c.2939T>G (p.Phe980Cys)
|
rs1665047363
|
|
NM_201253.3(CRB1):c.2951A>C (p.Asp984Ala)
|
rs1227467460
|
|
NM_201253.3(CRB1):c.2963T>C (p.Ile988Thr)
|
rs1571555801
|
|
NM_201253.3(CRB1):c.2980A>G (p.Lys994Glu)
|
rs2125499116
|
|
NM_201253.3(CRB1):c.2985G>T (p.Glu995Asp)
|
|
|
NM_201253.3(CRB1):c.298C>T (p.Pro100Ser)
|
rs1404279052
|
|
NM_201253.3(CRB1):c.299C>T (p.Pro100Leu)
|
rs2125304021
|
|
NM_201253.3(CRB1):c.3007A>G (p.Ile1003Val)
|
|
|
NM_201253.3(CRB1):c.3007A>T (p.Ile1003Phe)
|
rs910299744
|
|
NM_201253.3(CRB1):c.3014A>G (p.Asp1005Gly)
|
rs369184026
|
|
NM_201253.3(CRB1):c.3041G>A (p.Ser1014Asn)
|
|
|
NM_201253.3(CRB1):c.3049A>G (p.Ser1017Gly)
|
rs2125499301
|
|
NM_201253.3(CRB1):c.3085G>A (p.Val1029Met)
|
rs757383417
|
|
NM_201253.3(CRB1):c.308G>T (p.Ser103Ile)
|
rs116254396
|
|
NM_201253.3(CRB1):c.3098C>T (p.Thr1033Ile)
|
|
|
NM_201253.3(CRB1):c.3100T>C (p.Trp1034Arg)
|
rs1665062132
|
|
NM_201253.3(CRB1):c.3106G>A (p.Glu1036Lys)
|
|
|
NM_201253.3(CRB1):c.3137C>T (p.Ser1046Phe)
|
rs1665065652
|
|
NM_201253.3(CRB1):c.316A>C (p.Ile106Leu)
|
|
|
NM_201253.3(CRB1):c.3173A>G (p.Glu1058Gly)
|
|
|
NM_201253.3(CRB1):c.3179C>T (p.Pro1060Leu)
|
|
|
NM_201253.3(CRB1):c.3183T>A (p.Phe1061Leu)
|
|
|
NM_201253.3(CRB1):c.3203C>A (p.Thr1068Asn)
|
rs1452661857
|
|
NM_201253.3(CRB1):c.3209G>T (p.Ser1070Ile)
|
rs1665074618
|
|
NM_201253.3(CRB1):c.320G>T (p.Cys107Phe)
|
|
|
NM_201253.3(CRB1):c.3211C>T (p.Leu1071Phe)
|
rs398124614
|
|
NM_201253.3(CRB1):c.3224A>C (p.Lys1075Thr)
|
rs2125499800
|
|
NM_201253.3(CRB1):c.3232A>G (p.Thr1078Ala)
|
|
|
NM_201253.3(CRB1):c.3256G>T (p.Ala1086Ser)
|
rs2125499915
|
|
NM_201253.3(CRB1):c.3274G>A (p.Gly1092Ser)
|
rs1402562231
|
|
NM_201253.3(CRB1):c.3282A>C (p.Gln1094His)
|
|
|
NM_201253.3(CRB1):c.3282A>T (p.Gln1094His)
|
rs752719776
|
|
NM_201253.3(CRB1):c.328A>G (p.Thr110Ala)
|
|
|
NM_201253.3(CRB1):c.3304A>G (p.Ile1102Val)
|
|
|
NM_201253.3(CRB1):c.3343G>C (p.Gly1115Arg)
|
rs779253997
|
|
NM_201253.3(CRB1):c.3373T>C (p.Phe1125Leu)
|
|
|
NM_201253.3(CRB1):c.338C>T (p.Ser113Phe)
|
|
|
NM_201253.3(CRB1):c.3398T>C (p.Val1133Ala)
|
|
|
NM_201253.3(CRB1):c.3406G>A (p.Gly1136Ser)
|
|
|
NM_201253.3(CRB1):c.3427T>C (p.Cys1143Arg)
|
|
|
NM_201253.3(CRB1):c.3466G>A (p.Asp1156Asn)
|
|
|
NM_201253.3(CRB1):c.3473A>G (p.Tyr1158Cys)
|
rs2125500588
|
|
NM_201253.3(CRB1):c.3482A>G (p.Tyr1161Cys)
|
rs1414707912
|
|
NM_201253.3(CRB1):c.3485A>G (p.His1162Arg)
|
rs2125500617
|
|
NM_201253.3(CRB1):c.3491C>T (p.Ser1164Phe)
|
rs761492989
|
|
NM_201253.3(CRB1):c.351C>G (p.Asn117Lys)
|
rs794727317
|
|
NM_201253.3(CRB1):c.3521G>A (p.Cys1174Tyr)
|
rs1665102302
|
|
NM_201253.3(CRB1):c.3526C>T (p.Leu1176Phe)
|
|
|
NM_201253.3(CRB1):c.3535G>A (p.Asp1179Asn)
|
|
|
NM_201253.3(CRB1):c.3538G>A (p.Glu1180Lys)
|
|
|
NM_201253.3(CRB1):c.353C>T (p.Ser118Phe)
|
|
|
NM_201253.3(CRB1):c.3559A>T (p.Ile1187Phe)
|
rs371586216
|
|
NM_201253.3(CRB1):c.355T>G (p.Cys119Gly)
|
rs1658671611
|
|
NM_201253.3(CRB1):c.3563A>G (p.His1188Arg)
|
rs1665105838
|
|
NM_201253.3(CRB1):c.3564T>G (p.His1188Gln)
|
rs376271122
|
|
NM_201253.3(CRB1):c.3583G>T (p.Val1195Phe)
|
rs1558138977
|
|
NM_201253.3(CRB1):c.3596A>G (p.His1199Arg)
|
|
|
NM_201253.3(CRB1):c.3617A>T (p.Tyr1206Phe)
|
|
|
NM_201253.3(CRB1):c.3623G>T (p.Gly1208Val)
|
|
|
NM_201253.3(CRB1):c.3631T>A (p.Cys1211Ser)
|
|
|
NM_201253.3(CRB1):c.3643A>G (p.Ile1215Val)
|
rs753102573
|
|
NM_201253.3(CRB1):c.3647A>G (p.Asp1216Gly)
|
rs2125501023
|
|
NM_201253.3(CRB1):c.3679G>A (p.Ala1227Thr)
|
|
|
NM_201253.3(CRB1):c.3698C>T (p.Thr1233Ile)
|
rs1665116355
|
|
NM_201253.3(CRB1):c.370A>T (p.Ile124Phe)
|
|
|
NM_201253.3(CRB1):c.371T>A (p.Ile124Asn)
|
rs886045783
|
|
NM_201253.3(CRB1):c.3729T>G (p.Asn1243Lys)
|
|
|
NM_201253.3(CRB1):c.3749+5G>A
|
|
|
NM_201253.3(CRB1):c.3773T>G (p.Val1258Gly)
|
rs2125506192
|
|
NM_201253.3(CRB1):c.377A>G (p.His126Arg)
|
rs1300735825
|
|
NM_201253.3(CRB1):c.3784G>A (p.Glu1262Lys)
|
rs1007094417
|
|
NM_201253.3(CRB1):c.3785A>G (p.Glu1262Gly)
|
|
|
NM_201253.3(CRB1):c.3824C>G (p.Thr1275Arg)
|
|
|
NM_201253.3(CRB1):c.3840A>T (p.Glu1280Asp)
|
|
|
NM_201253.3(CRB1):c.3848G>A (p.Cys1283Tyr)
|
rs1665279435
|
|
NM_201253.3(CRB1):c.3857G>A (p.Arg1286Gln)
|
|
|
NM_201253.3(CRB1):c.3881G>T (p.Cys1294Phe)
|
rs754575460
|
|
NM_201253.3(CRB1):c.3917G>A (p.Cys1306Tyr)
|
rs2125513658
|
|
NM_201253.3(CRB1):c.3923A>G (p.Asn1308Ser)
|
rs747631811
|
|
NM_201253.3(CRB1):c.3928G>A (p.Gly1310Ser)
|
rs1411240510
|
|
NM_201253.3(CRB1):c.3929G>C (p.Gly1310Ala)
|
rs778373995
|
|
NM_201253.3(CRB1):c.3935G>T (p.Cys1312Phe)
|
|
|
NM_201253.3(CRB1):c.3947T>G (p.Leu1316Arg)
|
|
|
NM_201253.3(CRB1):c.3974_3976dup (p.Val1325dup)
|
rs750573216
|
|
NM_201253.3(CRB1):c.3987C>T (p.Gly1329=)
|
|
|
NM_201253.3(CRB1):c.4005C>T (p.Asp1335=)
|
|
|
NM_201253.3(CRB1):c.4006-18T>G
|
rs2125573687
|
|
NM_201253.3(CRB1):c.4009G>A (p.Ala1337Thr)
|
|
|
NM_201253.3(CRB1):c.4014T>A (p.Asp1338Glu)
|
|
|
NM_201253.3(CRB1):c.4046G>A (p.Gly1349Asp)
|
rs761584516
|
|
NM_201253.3(CRB1):c.405C>G (p.Ile135Met)
|
|
|
NM_201253.3(CRB1):c.407G>T (p.Cys136Phe)
|
rs752559648
|
|
NM_201253.3(CRB1):c.40C>T (p.Leu14Phe)
|
|
|
NM_201253.3(CRB1):c.4106C>A (p.Thr1369Asn)
|
rs1667262233
|
|
NM_201253.3(CRB1):c.4136A>C (p.Tyr1379Ser)
|
rs1571645532
|
|
NM_201253.3(CRB1):c.413C>A (p.Ala138Asp)
|
|
|
NM_201253.3(CRB1):c.4140C>A (p.Ser1380Arg)
|
|
|
NM_201253.3(CRB1):c.4147C>G (p.Arg1383Gly)
|
|
|
NM_201253.3(CRB1):c.4148G>T (p.Arg1383Leu)
|
|
|
NM_201253.3(CRB1):c.4151A>G (p.Gln1384Arg)
|
|
|
NM_201253.3(CRB1):c.4160A>C (p.Glu1387Ala)
|
|
|
NM_201253.3(CRB1):c.4163G>A (p.Gly1388Asp)
|
rs765740058
|
|
NM_201253.3(CRB1):c.4163G>T (p.Gly1388Val)
|
rs765740058
|
|
NM_201253.3(CRB1):c.4166C>T (p.Ser1389Phe)
|
rs775906215
|
|
NM_201253.3(CRB1):c.4169G>C (p.Arg1390Pro)
|
rs764581378
|
|
NM_201253.3(CRB1):c.4172T>G (p.Val1391Gly)
|
|
|
NM_201253.3(CRB1):c.4196C>T (p.Pro1399Leu)
|
rs1261177913
|
|
NM_201253.3(CRB1):c.4202C>A (p.Ala1401Glu)
|
|
|
NM_201253.3(CRB1):c.4205T>C (p.Met1402Thr)
|
rs767920858
|
|
NM_201253.3(CRB1):c.4219T>A (p.Ter1407Lys)
|
rs1667270315
|
|
NM_201253.3(CRB1):c.4219T>C (p.Ter1407Gln)
|
rs1667270315
|
|
NM_201253.3(CRB1):c.439A>G (p.Ile147Val)
|
rs2125304346
|
|
NM_201253.3(CRB1):c.467C>T (p.Pro156Leu)
|
rs1420941782
|
|
NM_201253.3(CRB1):c.470G>A (p.Cys157Tyr)
|
rs2125304430
|
|
NM_201253.3(CRB1):c.478G>T (p.Gly160Trp)
|
|
|
NM_201253.3(CRB1):c.481G>A (p.Ala161Thr)
|
rs1064797126
|
|
NM_201253.3(CRB1):c.487T>G (p.Cys163Gly)
|
rs2125304485
|
|
NM_201253.3(CRB1):c.491A>G (p.Gln164Arg)
|
rs952354514
|
|
NM_201253.3(CRB1):c.502G>T (p.Asp168Tyr)
|
rs773457531
|
|
NM_201253.3(CRB1):c.508T>C (p.Tyr170His)
|
rs1571848981
|
|
NM_201253.3(CRB1):c.512C>G (p.Ser171Cys)
|
rs763841981
|
|
NM_201253.3(CRB1):c.515G>T (p.Cys172Phe)
|
rs756931963
|
|
NM_201253.3(CRB1):c.521G>C (p.Cys174Ser)
|
|
|
NM_201253.3(CRB1):c.526C>T (p.Pro176Ser)
|
|
|
NM_201253.3(CRB1):c.532T>C (p.Tyr178His)
|
|
|
NM_201253.3(CRB1):c.550G>A (p.Asp184Asn)
|
|
|
NM_201253.3(CRB1):c.551A>G (p.Asp184Gly)
|
|
|
NM_201253.3(CRB1):c.578A>G (p.Asp193Gly)
|
|
|
NM_201253.3(CRB1):c.579T>A (p.Asp193Glu)
|
|
|
NM_201253.3(CRB1):c.592G>A (p.Glu198Lys)
|
rs1658694943
|
|
NM_201253.3(CRB1):c.604C>T (p.Leu202Phe)
|
|
|
NM_201253.3(CRB1):c.616G>A (p.Gly206Arg)
|
|
|
NM_201253.3(CRB1):c.629G>A (p.Cys210Tyr)
|
|
|
NM_201253.3(CRB1):c.62A>G (p.Tyr21Cys)
|
|
|
NM_201253.3(CRB1):c.635G>A (p.Cys212Tyr)
|
rs1658699227
|
|
NM_201253.3(CRB1):c.635G>C (p.Cys212Ser)
|
|
|
NM_201253.3(CRB1):c.666A>T (p.Glu222Asp)
|
rs1659641198
|
|
NM_201253.3(CRB1):c.677A>C (p.Asp226Ala)
|
|
|
NM_201253.3(CRB1):c.683G>A (p.Cys228Tyr)
|
rs1163013240
|
|
NM_201253.3(CRB1):c.697T>C (p.Cys233Arg)
|
rs978649523
|
|
NM_201253.3(CRB1):c.698G>A (p.Cys233Tyr)
|
|
|
NM_201253.3(CRB1):c.757G>A (p.Gly253Arg)
|
|
|
NM_201253.3(CRB1):c.769G>T (p.Asp257Tyr)
|
rs2125328452
|
|
NM_201253.3(CRB1):c.774C>A (p.His258Gln)
|
rs2125328459
|
|
NM_201253.3(CRB1):c.775T>C (p.Cys259Arg)
|
|
|
NM_201253.3(CRB1):c.796T>A (p.Cys266Ser)
|
rs1659650891
|
|
NM_201253.3(CRB1):c.805C>A (p.Gln269Lys)
|
|
|
NM_201253.3(CRB1):c.809C>G (p.Pro270Arg)
|
rs1659652337
|
|
NM_201253.3(CRB1):c.817C>T (p.His273Tyr)
|
|
|
NM_201253.3(CRB1):c.823G>A (p.Gly275Arg)
|
|
|
NM_201253.3(CRB1):c.830G>A (p.Cys277Tyr)
|
|
|
NM_201253.3(CRB1):c.833T>C (p.Val278Ala)
|
|
|
NM_201253.3(CRB1):c.839G>A (p.Gly280Glu)
|
rs930465675
|
|
NM_201253.3(CRB1):c.848+4C>G
|
rs1659656136
|
|
NM_201253.3(CRB1):c.862T>C (p.Cys288Arg)
|
rs1571877872
|
|
NM_201253.3(CRB1):c.866C>A (p.Thr289Lys)
|
|
|
NM_201253.3(CRB1):c.872G>T (p.Ser291Ile)
|
rs1374962600
|
|
NM_201253.3(CRB1):c.875G>T (p.Gly292Val)
|
|
|
NM_201253.3(CRB1):c.889C>T (p.His297Tyr)
|
|
|
NM_201253.3(CRB1):c.89ACA[1] (p.Asn31del)
|
|
|
NM_201253.3(CRB1):c.926C>G (p.Pro309Arg)
|
|
|
NM_201253.3(CRB1):c.955A>C (p.Ser319Arg)
|
|
|
NM_201253.3(CRB1):c.964A>G (p.Asn322Asp)
|
rs942572644
|
|
NM_201253.3(CRB1):c.97A>G (p.Arg33Gly)
|
rs1452416023
|
|
NM_201253.3(CRB1):c.982T>C (p.Trp328Arg)
|
|
|
NM_201253.3(CRB1):c.987T>C (p.Pro329=)
|
rs754038973
|
|
NM_201253.3(CRB1):c.98G>A (p.Arg33Lys)
|
rs1658648856
|
|
NM_201548.5(CERKL):c.*1058T>G
|
rs200646302
|
|
NM_201548.5(CERKL):c.*237G>A
|
rs758328553
|
|
NM_201548.5(CERKL):c.*25G>T
|
rs368851275
|
|
NM_201548.5(CERKL):c.*77G>T
|
rs1574424314
|
|
NM_201548.5(CERKL):c.*780T>C
|
rs886055315
|
|
NM_201548.5(CERKL):c.1043T>C (p.Phe348Ser)
|
rs1687844821
|
|
NM_201548.5(CERKL):c.1064C>A (p.Ala355Glu)
|
rs144917662
|
|
NM_201548.5(CERKL):c.1086_1087del (p.Cys362_Glu363delinsTer)
|
rs776727320
|
|
NM_201548.5(CERKL):c.1166A>G (p.Asn389Ser)
|
rs1687791244
|
|
NM_201548.5(CERKL):c.1174T>C (p.Trp392Arg)
|
rs773416880
|
|
NM_201548.5(CERKL):c.1255G>A (p.Ala419Thr)
|
|
|
NM_201548.5(CERKL):c.129C>T (p.Ala43=)
|
rs746107676
|
|
NM_201548.5(CERKL):c.132G>C (p.Glu44Asp)
|
rs727503857
|
|
NM_201548.5(CERKL):c.1368C>T (p.Phe456=)
|
rs1687372607
|
|
NM_201548.5(CERKL):c.1449GGA[5] (p.Glu486dup)
|
rs750109553
|
|
NM_201548.5(CERKL):c.1539-5T>A
|
rs371788033
|
|
NM_201548.5(CERKL):c.180C>T (p.Asp60=)
|
rs1688188231
|
|
NM_201548.5(CERKL):c.184G>T (p.Val62Leu)
|
rs1574077394
|
|
NM_201548.5(CERKL):c.238+6T>C
|
rs749540242
|
|
NM_201548.5(CERKL):c.238G>A (p.Gly80Ser)
|
|
|
NM_201548.5(CERKL):c.316C>T (p.Arg106Cys)
|
rs569826109
|
|
NM_201548.5(CERKL):c.356del (p.Gly119fs)
|
rs1559100189
|
|
NM_201548.5(CERKL):c.364C>G (p.Leu122Val)
|
rs754571046
|
|
NM_201548.5(CERKL):c.41A>G (p.Glu14Gly)
|
rs372089851
|
|
NM_201548.5(CERKL):c.44_55del (p.Gly15_Glu18del)
|
rs780332524
|
|
NM_201548.5(CERKL):c.454T>C (p.Phe152Leu)
|
rs886055318
|
|
NM_201548.5(CERKL):c.548C>T (p.Thr183Ile)
|
rs762281053
|
|
NM_201548.5(CERKL):c.560_568del (p.Tyr187_Val190delinsPhe)
|
rs2105846538
|
|
NM_201548.5(CERKL):c.57A>C (p.Glu19Asp)
|
rs1688202555
|
|
NM_201548.5(CERKL):c.608T>G (p.Val203Gly)
|
rs1689008063
|
|
NM_201548.5(CERKL):c.677+590G>C
|
rs1688623229
|
|
NM_201548.5(CERKL):c.734T>C (p.Leu245Pro)
|
rs1688309475
|
|
NM_201548.5(CERKL):c.808T>G (p.Leu270Val)
|
|
|
NM_201548.5(CERKL):c.824C>A (p.Ser275Tyr)
|
rs765183381
|
|
NM_201548.5(CERKL):c.872C>T (p.Thr291Ile)
|
rs1264403798
|
|
NM_201548.5(CERKL):c.901G>A (p.Val301Ile)
|
rs1453612133
|
|
NM_203288.2(RP9):c.32G>A (p.Gly11Glu)
|
rs575755283
|
|
NM_203288.2(RP9):c.410A>T (p.His137Leu)
|
rs104894037
|
|
NM_203288.2(RP9):c.584A>T (p.Lys195Met)
|
rs1788315155
|
|
NM_205861.3(DHDDS):c.*1261C>T
|
rs993797663
|
|
NM_205861.3(DHDDS):c.*1431C>T
|
rs867968139
|
|
NM_205861.3(DHDDS):c.*1574C>T
|
rs2075546722
|
|
NM_205861.3(DHDDS):c.*2069A>G
|
rs573602803
|
|
NM_205861.3(DHDDS):c.*226C>G
|
rs2075529207
|
|
NM_205861.3(DHDDS):c.*55C>T
|
rs1057515504
|
|
NM_205861.3(DHDDS):c.*573C>T
|
rs539236177
|
|
NM_205861.3(DHDDS):c.*634G>A
|
rs911133080
|
|
NM_205861.3(DHDDS):c.*769G>T
|
rs80313266
|
|
NM_205861.3(DHDDS):c.-37G>A
|
rs2075117953
|
|
NM_205861.3(DHDDS):c.103G>C (p.Gly35Arg)
|
|
|
NM_205861.3(DHDDS):c.110G>T (p.Arg37Leu)
|
|
|
NM_205861.3(DHDDS):c.112C>T (p.Arg38Cys)
|
rs2124374558
|
|
NM_205861.3(DHDDS):c.125A>G (p.Lys42Arg)
|
|
|
NM_205861.3(DHDDS):c.143A>G (p.Gln48Arg)
|
rs938589146
|
|
NM_205861.3(DHDDS):c.144G>C (p.Gln48His)
|
|
|
NM_205861.3(DHDDS):c.148G>A (p.Gly50Ser)
|
|
|
NM_205861.3(DHDDS):c.155C>T (p.Ser52Leu)
|
|
|
NM_205861.3(DHDDS):c.157C>G (p.Gln53Glu)
|
rs1057515434
|
|
NM_205861.3(DHDDS):c.161G>T (p.Gly54Val)
|
|
|
NM_205861.3(DHDDS):c.167A>G (p.Asn56Ser)
|
|
|
NM_205861.3(DHDDS):c.180+8T>C
|
|
|
NM_205861.3(DHDDS):c.187C>T (p.Arg63Trp)
|
|
|
NM_205861.3(DHDDS):c.188G>A (p.Arg63Gln)
|
|
|
NM_205861.3(DHDDS):c.19G>A (p.Gly7Arg)
|
|
|
NM_205861.3(DHDDS):c.1_2del (p.Met1fs)
|
|
|
NM_205861.3(DHDDS):c.208A>C (p.Ile70Leu)
|
rs1253678123
|
|
NM_205861.3(DHDDS):c.208A>G (p.Ile70Val)
|
|
|
NM_205861.3(DHDDS):c.20G>A (p.Gly7Glu)
|
rs2075118494
|
|
NM_205861.3(DHDDS):c.229G>A (p.Ala77Thr)
|
|
|
NM_205861.3(DHDDS):c.230C>T (p.Ala77Val)
|
|
|
NM_205861.3(DHDDS):c.251A>G (p.Lys84Arg)
|
|
|
NM_205861.3(DHDDS):c.254G>A (p.Arg85His)
|
rs2124404009
|
|
NM_205861.3(DHDDS):c.257C>G (p.Ser86Cys)
|
|
|
NM_205861.3(DHDDS):c.259A>G (p.Lys87Glu)
|
rs760975808
|
|
NM_205861.3(DHDDS):c.299A>C (p.Lys100Thr)
|
rs755746499
|
|
NM_205861.3(DHDDS):c.299A>G (p.Lys100Arg)
|
rs755746499
|
|
NM_205861.3(DHDDS):c.305G>A (p.Ser102Asn)
|
|
|
NM_205861.3(DHDDS):c.314T>C (p.Met105Thr)
|
|
|
NM_205861.3(DHDDS):c.328A>G (p.Lys110Glu)
|
|
|
NM_205861.3(DHDDS):c.350G>C (p.Cys117Ser)
|
rs2124425567
|
|
NM_205861.3(DHDDS):c.356G>A (p.Arg119Gln)
|
|
|
NM_205861.3(DHDDS):c.364G>A (p.Gly122Ser)
|
|
|
NM_205861.3(DHDDS):c.367G>A (p.Asp123Asn)
|
|
|
NM_205861.3(DHDDS):c.373C>T (p.His125Tyr)
|
|
|
NM_205861.3(DHDDS):c.377T>C (p.Leu126Ser)
|
|
|
NM_205861.3(DHDDS):c.390T>G (p.Asp130Glu)
|
rs2124426006
|
|
NM_205861.3(DHDDS):c.399G>C (p.Glu133Asp)
|
rs2075268700
|
|
NM_205861.3(DHDDS):c.411A>C (p.Gln137His)
|
rs1356542583
|
|
NM_205861.3(DHDDS):c.419A>G (p.Gln140Arg)
|
rs2075269440
|
|
NM_205861.3(DHDDS):c.425C>G (p.Thr142Arg)
|
rs758751596
|
|
NM_205861.3(DHDDS):c.440+6T>C
|
|
|
NM_205861.3(DHDDS):c.443G>A (p.Cys148Tyr)
|
|
|
NM_205861.3(DHDDS):c.445T>C (p.Phe149Leu)
|
|
|
NM_205861.3(DHDDS):c.447C>A (p.Phe149Leu)
|
rs752178339
|
|
NM_205861.3(DHDDS):c.44T>A (p.Phe15Tyr)
|
|
|
NM_205861.3(DHDDS):c.475C>T (p.Arg159Cys)
|
rs752722280
|
|
NM_205861.3(DHDDS):c.496G>A (p.Val166Met)
|
|
|
NM_205861.3(DHDDS):c.496G>C (p.Val166Leu)
|
|
|
NM_205861.3(DHDDS):c.502G>C (p.Glu168Gln)
|
|
|
NM_205861.3(DHDDS):c.512G>T (p.Trp171Leu)
|
rs367557625
|
|
NM_205861.3(DHDDS):c.513G>C (p.Trp171Cys)
|
|
|
NM_205861.3(DHDDS):c.514G>C (p.Gly172Arg)
|
|
|
NM_205861.3(DHDDS):c.517G>A (p.Val173Met)
|
rs2075282159
|
|
NM_205861.3(DHDDS):c.542+11T>C
|
|
|
NM_205861.3(DHDDS):c.542+6C>A
|
|
|
NM_205861.3(DHDDS):c.542+6C>G
|
rs1286935101
|
|
NM_205861.3(DHDDS):c.543-3T>C
|
|
|
NM_205861.3(DHDDS):c.547A>C (p.Ile183Leu)
|
rs1294679503
|
|
NM_205861.3(DHDDS):c.550T>G (p.Ser184Ala)
|
|
|
NM_205861.3(DHDDS):c.559C>G (p.Leu187Val)
|
|
|
NM_205861.3(DHDDS):c.565G>C (p.Asp189His)
|
|
|
NM_205861.3(DHDDS):c.566A>G (p.Asp189Gly)
|
|
|
NM_205861.3(DHDDS):c.56T>G (p.Ile19Ser)
|
|
|
NM_205861.3(DHDDS):c.571T>C (p.Cys191Arg)
|
|
|
NM_205861.3(DHDDS):c.580A>G (p.Thr194Ala)
|
|
|
NM_205861.3(DHDDS):c.584A>C (p.Asn195Thr)
|
rs778754350
|
|
NM_205861.3(DHDDS):c.586C>T (p.Arg196Cys)
|
|
|
NM_205861.3(DHDDS):c.58A>G (p.Ile20Val)
|
rs955247503
|
|
NM_205861.3(DHDDS):c.592C>T (p.Pro198Ser)
|
rs1288778858
|
|
NM_205861.3(DHDDS):c.604A>G (p.Ile202Val)
|
rs1196016348
|
|
NM_205861.3(DHDDS):c.613C>T (p.Arg205Trp)
|
|
|
NM_205861.3(DHDDS):c.620C>G (p.Ser207Cys)
|
|
|
NM_205861.3(DHDDS):c.621T>A (p.Ser207=)
|
rs1280728029
|
|
NM_205861.3(DHDDS):c.623G>A (p.Gly208Glu)
|
|
|
NM_205861.3(DHDDS):c.628G>A (p.Val210Met)
|
|
|
NM_205861.3(DHDDS):c.63+6C>T
|
|
|
NM_205861.3(DHDDS):c.64-3C>T
|
|
|
NM_205861.3(DHDDS):c.668C>G (p.Ser223Cys)
|
rs2124501296
|
|
NM_205861.3(DHDDS):c.709T>C (p.Phe237Leu)
|
rs2124501513
|
|
NM_205861.3(DHDDS):c.710T>G (p.Phe237Cys)
|
rs1057515468
|
|
NM_205861.3(DHDDS):c.717C>G (p.Asn239Lys)
|
|
|
NM_205861.3(DHDDS):c.722T>G (p.Phe241Cys)
|
rs1038914770
|
|
NM_205861.3(DHDDS):c.744G>C (p.Gln248His)
|
rs2075407784
|
|
NM_205861.3(DHDDS):c.750C>A (p.Asn250Lys)
|
|
|
NM_205861.3(DHDDS):c.756C>A (p.Ser252Arg)
|
|
|
NM_205861.3(DHDDS):c.764A>G (p.Gln255Arg)
|
|
|
NM_205861.3(DHDDS):c.765+5G>T
|
rs1335999297
|
|
NM_205861.3(DHDDS):c.766-4del
|
rs2075521285
|
|
NM_205861.3(DHDDS):c.772del (p.Arg258fs)
|
|
|
NM_205861.3(DHDDS):c.773G>A (p.Arg258Gln)
|
|
|
NM_205861.3(DHDDS):c.775G>A (p.Asp259Asn)
|
rs1057515435
|
|
NM_205861.3(DHDDS):c.776A>G (p.Asp259Gly)
|
|
|
NM_205861.3(DHDDS):c.77C>T (p.Pro26Leu)
|
|
|
NM_205861.3(DHDDS):c.792G>C (p.Glu264Asp)
|
|
|
NM_205861.3(DHDDS):c.793C>T (p.Arg265Trp)
|
rs749723641
|
|
NM_205861.3(DHDDS):c.79A>C (p.Lys27Gln)
|
|
|
NM_205861.3(DHDDS):c.817G>A (p.Asp273Asn)
|
rs182263884
|
|
NM_205861.3(DHDDS):c.817G>T (p.Asp273Tyr)
|
rs182263884
|
|
NM_205861.3(DHDDS):c.822G>C (p.Gln274His)
|
rs2124552427
|
|
NM_205861.3(DHDDS):c.839A>C (p.Gln280Pro)
|
|
|
NM_205861.3(DHDDS):c.842T>C (p.Leu281Pro)
|
|
|
NM_205861.3(DHDDS):c.845T>C (p.Leu282Pro)
|
rs775810457
|
|
NM_205861.3(DHDDS):c.848G>A (p.Arg283Gln)
|
rs761750566
|
|
NM_205861.3(DHDDS):c.851A>G (p.Glu284Gly)
|
|
|
NM_205861.3(DHDDS):c.853G>A (p.Gly285Arg)
|
|
|
NM_205861.3(DHDDS):c.855G>T (p.Gly285=)
|
rs928446379
|
|
NM_205861.3(DHDDS):c.856C>A (p.Leu286Ile)
|
|
|
NM_205861.3(DHDDS):c.857T>C (p.Leu286Pro)
|
|
|
NM_205861.3(DHDDS):c.85A>G (p.Ile29Val)
|
rs2075180906
|
|
NM_205861.3(DHDDS):c.866G>T (p.Ser289Ile)
|
rs1193686226
|
|
NM_205861.3(DHDDS):c.869G>C (p.Gly290Ala)
|
|
|
NM_205861.3(DHDDS):c.86T>C (p.Ile29Thr)
|
rs2124374344
|
|
NM_205861.3(DHDDS):c.873C>A (p.Asp291Glu)
|
|
|
NM_205861.3(DHDDS):c.883C>T (p.Arg295Ter)
|
|
|
NM_205861.3(DHDDS):c.884G>A (p.Arg295Gln)
|
|
|
NM_205861.3(DHDDS):c.893G>A (p.Arg298His)
|
|
|
NM_205861.3(DHDDS):c.893G>C (p.Arg298Pro)
|
rs778103040
|
|
NM_205861.3(DHDDS):c.898C>A (p.His300Asn)
|
|
|
NM_205861.3(DHDDS):c.898C>T (p.His300Tyr)
|
|
|
NM_205861.3(DHDDS):c.91T>C (p.Phe31Leu)
|
|
|
NM_205861.3(DHDDS):c.922G>A (p.Glu308Lys)
|
rs2075524191
|
|
NM_205861.3(DHDDS):c.945G>C (p.Gln315His)
|
|
|
NM_205861.3(DHDDS):c.946G>A (p.Ala316Thr)
|
|
|
NM_205861.3(DHDDS):c.946G>T (p.Ala316Ser)
|
|
|
NM_205861.3(DHDDS):c.94A>G (p.Ile32Val)
|
|
|
NM_205861.3(DHDDS):c.961C>T (p.Arg321Ter)
|
|
|
NM_205861.3(DHDDS):c.962G>A (p.Arg321Gln)
|
rs562974074
|
|
NM_205861.3(DHDDS):c.962G>C (p.Arg321Pro)
|
|
|
NM_205861.3(DHDDS):c.979C>G (p.Arg327Gly)
|
|
|
NM_205861.3(DHDDS):c.979C>T (p.Arg327Cys)
|
rs758618507
|
|
NM_205861.3(DHDDS):c.980G>A (p.Arg327His)
|
rs780269059
|
|
NM_205861.3(DHDDS):c.989C>A (p.Thr330Asn)
|
|
|
NM_205861.3(DHDDS):c.995C>G (p.Ser332Ter)
|
|
|
NM_206933.2(USH2A):c.[15319C>T;3902G>T]
|
|
|
NM_206933.4(USH2A):c.-159G>C
|
rs886045955
|
|
NM_206933.4(USH2A):c.-181C>T
|
rs866904288
|
|
NM_206933.4(USH2A):c.-289C>A
|
rs886045956
|
|
NM_206933.4(USH2A):c.-289C>T
|
rs886045956
|
|
NM_206933.4(USH2A):c.1000C>G (p.Arg334Gly)
|
rs397517963
|
|
NM_206933.4(USH2A):c.10013C>T (p.Ser3338Leu)
|
rs746870063
|
|
NM_206933.4(USH2A):c.10109G>T (p.Cys3370Phe)
|
rs1558099166
|
|
NM_206933.4(USH2A):c.10175T>A (p.Met3392Lys)
|
rs757682417
|
|
NM_206933.4(USH2A):c.10256_10262delinsCATTTGCACTGTGCAGTGA (p.Asn3419_Thr3421delinsThrPheAlaLeuCysSerAsp)
|
rs1558097546
|
|
NM_206933.4(USH2A):c.10265G>A (p.Ser3422Asn)
|
rs773660267
|
|
NM_206933.4(USH2A):c.1039_1041del (p.Asp347del)
|
rs1553250786
|
|
NM_206933.4(USH2A):c.10415A>G (p.Tyr3472Cys)
|
rs1553261469
|
|
NM_206933.4(USH2A):c.1041T>C (p.Asp347=)
|
rs2102655884
|
|
NM_206933.4(USH2A):c.10465G>A (p.Ala3489Thr)
|
rs1553261464
|
|
NM_206933.4(USH2A):c.10474G>T (p.Ala3492Ser)
|
rs771610821
|
|
NM_206933.4(USH2A):c.10481C>G (p.Thr3494Arg)
|
rs1661681799
|
|
NM_206933.4(USH2A):c.10485AGA[1] (p.Glu3496del)
|
rs1241034250
|
|
NM_206933.4(USH2A):c.10526A>G (p.Lys3509Arg)
|
rs2102763446
|
|
NM_206933.4(USH2A):c.10585G>A (p.Gly3529Ser)
|
rs111033439
|
|
NM_206933.4(USH2A):c.10595T>C (p.Ile3532Thr)
|
|
|
NM_206933.4(USH2A):c.10628G>A (p.Arg3543His)
|
|
|
NM_206933.4(USH2A):c.10631T>C (p.Phe3544Ser)
|
rs2102762754
|
|
NM_206933.4(USH2A):c.10657G>A (p.Asp3553Asn)
|
rs910086490
|
|
NM_206933.4(USH2A):c.10667G>A (p.Gly3556Glu)
|
rs397517968
|
|
NM_206933.4(USH2A):c.1069A>G (p.Asn357Asp)
|
rs144560419
|
|
NM_206933.4(USH2A):c.10740G>C (p.Lys3580Asn)
|
rs369507534
|
|
NM_206933.4(USH2A):c.10855G>A (p.Val3619Ile)
|
|
|
NM_206933.4(USH2A):c.10878G>T (p.Arg3626Ser)
|
|
|
NM_206933.4(USH2A):c.10993G>A (p.Gly3665Arg)
|
|
|
NM_206933.4(USH2A):c.11072T>A (p.Ile3691Asn)
|
rs2102742330
|
|
NM_206933.4(USH2A):c.11096_11098del (p.Glu3699_Leu3700delinsVal)
|
rs1553259182
|
|
NM_206933.4(USH2A):c.11156G>T (p.Arg3719Leu)
|
rs527236139
|
|
NM_206933.4(USH2A):c.11168T>G (p.Leu3723Trp)
|
rs928040621
|
|
NM_206933.4(USH2A):c.11203A>T (p.Thr3735Ser)
|
|
|
NM_206933.4(USH2A):c.11215C>G (p.Leu3739Val)
|
rs2102742157
|
|
NM_206933.4(USH2A):c.11390-2del
|
rs760100733
|
|
NM_206933.4(USH2A):c.1142A>G (p.Gln381Arg)
|
rs1553250774
|
|
NM_206933.4(USH2A):c.11434_11436del (p.Asn3812del)
|
rs1553257704
|
|
NM_206933.4(USH2A):c.11534A>C (p.Gln3845Pro)
|
rs1553257674
|
|
NM_206933.4(USH2A):c.11537C>T (p.Ala3846Val)
|
rs1553257673
|
|
NM_206933.4(USH2A):c.11594C>A (p.Ala3865Glu)
|
rs1064797132
|
|
NM_206933.4(USH2A):c.11649A>G (p.Ile3883Met)
|
rs397517975
|
|
NM_206933.4(USH2A):c.11687TCA[2] (p.Ile3898del)
|
rs727504714
|
|
NM_206933.4(USH2A):c.11700C>A (p.Tyr3900Ter)
|
rs1553257498
|
|
NM_206933.4(USH2A):c.11711G>A (p.Arg3904Lys)
|
|
|
NM_206933.4(USH2A):c.11728G>C (p.Glu3910Gln)
|
rs1436435041
|
|
NM_206933.4(USH2A):c.11815_11817dup (p.Glu3939dup)
|
rs2102713686
|
|
NM_206933.4(USH2A):c.11824G>A (p.Val3942Ile)
|
rs1659890930
|
|
NM_206933.4(USH2A):c.12022G>A (p.Asp4008Asn)
|
rs866937010
|
|
NM_206933.4(USH2A):c.12088C>G (p.Leu4030Val)
|
rs141528682
|
|
NM_206933.4(USH2A):c.12118C>T (p.Arg4040Cys)
|
|
|
NM_206933.4(USH2A):c.12126TGT[1] (p.Val4044del)
|
rs1553252937
|
|
NM_206933.4(USH2A):c.12139_12147del (p.Asn4047_Ala4049del)
|
rs1553252931
|
|
NM_206933.4(USH2A):c.12194C>T (p.Ser4065Phe)
|
|
|
NM_206933.4(USH2A):c.12199A>C (p.Ser4067Arg)
|
|
|
NM_206933.4(USH2A):c.12299ACA[1] (p.Asn4101del)
|
rs1657997491
|
|
NM_206933.4(USH2A):c.12419G>T (p.Cys4140Phe)
|
rs1064797131
|
|
NM_206933.4(USH2A):c.1246G>A (p.Ala416Thr)
|
rs187897763
|
|
NM_206933.4(USH2A):c.1246G>T (p.Ala416Ser)
|
rs187897763
|
|
NM_206933.4(USH2A):c.12484A>G (p.Thr4162Ala)
|
rs1363933493
|
|
NM_206933.4(USH2A):c.12560G>T (p.Arg4187Leu)
|
rs147304271
|
|
NM_206933.4(USH2A):c.12586G>A (p.Glu4196Lys)
|
rs770065010
|
|
NM_206933.4(USH2A):c.1259G>A (p.Gly420Asp)
|
|
|
NM_206933.4(USH2A):c.12611_12612inv (p.Thr4204Met)
|
|
|
NM_206933.4(USH2A):c.12695C>A (p.Pro4232Gln)
|
rs745371873
|
|
NM_206933.4(USH2A):c.12700A>C (p.Thr4234Pro)
|
rs577938494
|
|
NM_206933.4(USH2A):c.12737_12738delinsGG (p.Ala4246Gly)
|
rs1553252489
|
|
NM_206933.4(USH2A):c.12806C>G (p.Pro4269Arg)
|
rs1553252475
|
|
NM_206933.4(USH2A):c.12877G>A (p.Gly4293Ser)
|
rs727505117
|
|
NM_206933.4(USH2A):c.12889T>C (p.Ser4297Pro)
|
rs1553252463
|
|
NM_206933.4(USH2A):c.12940G>A (p.Val4314Met)
|
|
|
NM_206933.4(USH2A):c.12973C>G (p.Pro4325Ala)
|
rs1657955894
|
|
NM_206933.4(USH2A):c.13123T>G (p.Cys4375Gly)
|
rs1558048384
|
|
NM_206933.4(USH2A):c.13126T>G (p.Trp4376Gly)
|
rs775490668
|
|
NM_206933.4(USH2A):c.13165T>C (p.Tyr4389His)
|
rs2102665721
|
|
NM_206933.4(USH2A):c.131G>A (p.Gly44Glu)
|
rs2039690182
|
|
NM_206933.4(USH2A):c.13259C>T (p.Ser4420Phe)
|
rs146240320
|
|
NM_206933.4(USH2A):c.1327A>G (p.Asn443Asp)
|
rs775075026
|
|
NM_206933.4(USH2A):c.13312T>C (p.Trp4438Arg)
|
rs372802465
|
|
NM_206933.4(USH2A):c.13339A>G (p.Met4447Val)
|
rs139474806
|
|
NM_206933.4(USH2A):c.1340A>G (p.Tyr447Cys)
|
rs1553250638
|
|
NM_206933.4(USH2A):c.13414G>A (p.Gly4472Ser)
|
rs1657932443
|
|
NM_206933.4(USH2A):c.13567G>T (p.Val4523Phe)
|
rs746442849
|
|
NM_206933.4(USH2A):c.13625C>G (p.Ala4542Gly)
|
rs775560370
|
|
NM_206933.4(USH2A):c.13633C>T (p.Pro4545Ser)
|
rs2102664812
|
|
NM_206933.4(USH2A):c.1363A>G (p.Ser455Gly)
|
rs866877329
|
|
NM_206933.4(USH2A):c.13665_13667dup (p.Val4556dup)
|
rs1553252347
|
|
NM_206933.4(USH2A):c.13776G>C (p.Gln4592His)
|
rs1350039852
|
|
NM_206933.4(USH2A):c.1379G>A (p.Gly460Glu)
|
rs2037663922
|
|
NM_206933.4(USH2A):c.13808A>C (p.His4603Pro)
|
rs727504551
|
|
NM_206933.4(USH2A):c.13811+3A>G
|
rs760716728
|
|
NM_206933.4(USH2A):c.13894C>T (p.Pro4632Ser)
|
|
|
NM_206933.4(USH2A):c.1390C>T (p.Arg464Cys)
|
rs1423536179
|
|
NM_206933.4(USH2A):c.14146A>G (p.Asn4716Asp)
|
rs2102645078
|
|
NM_206933.4(USH2A):c.14204C>G (p.Pro4735Arg)
|
rs1333608275
|
|
NM_206933.4(USH2A):c.14243C>T (p.Ser4748Phe)
|
rs527236126
|
|
NM_206933.4(USH2A):c.14475T>A (p.His4825Gln)
|
|
|
NM_206933.4(USH2A):c.14632T>G (p.Cys4878Gly)
|
rs779400517
|
|
NM_206933.4(USH2A):c.14635A>G (p.Thr4879Ala)
|
rs745580452
|
|
NM_206933.4(USH2A):c.14917G>A (p.Val4973Met)
|
|
|
NM_206933.4(USH2A):c.14970CTT[1] (p.Phe4993del)
|
rs1553249310
|
|
NM_206933.4(USH2A):c.14995A>G (p.Thr4999Ala)
|
rs1553249303
|
|
NM_206933.4(USH2A):c.15001G>A (p.Glu5001Lys)
|
|
|
NM_206933.4(USH2A):c.15044C>T (p.Thr5015Ile)
|
rs1029854359
|
|
NM_206933.4(USH2A):c.15115_15117del (p.Ser5039del)
|
rs1553248836
|
|
NM_206933.4(USH2A):c.15147_15160del (p.Met5049fs)
|
rs1553248832
|
|
NM_206933.4(USH2A):c.1516TAT[1] (p.Tyr507del)
|
rs1553250595
|
|
NM_206933.4(USH2A):c.15172T>C (p.Phe5058Leu)
|
|
|
NM_206933.4(USH2A):c.1522G>A (p.Ala508Thr)
|
rs397517999
|
|
NM_206933.4(USH2A):c.15298-18_15301dup
|
rs1553248238
|
|
NM_206933.4(USH2A):c.15307G>A (p.Asp5103Asn)
|
|
|
NM_206933.4(USH2A):c.15322C>T (p.Arg5108Trp)
|
rs746098518
|
|
NM_206933.4(USH2A):c.15373C>T (p.Arg5125Cys)
|
|
|
NM_206933.4(USH2A):c.15380C>T (p.Pro5127Leu)
|
rs201513512
|
|
NM_206933.4(USH2A):c.15479A>G (p.Asn5160Ser)
|
|
|
NM_206933.4(USH2A):c.1551-9T>A
|
rs995537756
|
|
NM_206933.4(USH2A):c.15526G>A (p.Asp5176Asn)
|
rs774383785
|
|
NM_206933.4(USH2A):c.15574A>G (p.Lys5192Glu)
|
|
|
NM_206933.4(USH2A):c.15577del (p.Glu5193fs)
|
rs1553313073
|
|
NM_206933.4(USH2A):c.15581G>A (p.Arg5194His)
|
rs727505155
|
|
NM_206933.4(USH2A):c.1571C>T (p.Ala524Val)
|
rs772624410
|
|
NM_206933.4(USH2A):c.1580G>T (p.Cys527Phe)
|
rs755735339
|
|
NM_206933.4(USH2A):c.1586CAA[1] (p.Thr530del)
|
rs1553250409
|
|
NM_206933.4(USH2A):c.1606T>A (p.Cys536Ser)
|
rs111033273
|
|
NM_206933.4(USH2A):c.1625G>T (p.Ser542Ile)
|
|
|
NM_206933.4(USH2A):c.1644+5G>C
|
rs1558036810
|
|
NM_206933.4(USH2A):c.1645T>A (p.Cys549Ser)
|
rs1064797139
|
|
NM_206933.4(USH2A):c.1648G>C (p.Asp550His)
|
rs727504805
|
|
NM_206933.4(USH2A):c.1729T>C (p.Cys577Arg)
|
rs1553327470
|
|
NM_206933.4(USH2A):c.1813T>C (p.Cys605Arg)
|
rs886043096
|
|
NM_206933.4(USH2A):c.1832A>C (p.Asn611Thr)
|
rs2102610653
|
|
NM_206933.4(USH2A):c.188G>C (p.Arg63Pro)
|
rs369806765
|
|
NM_206933.4(USH2A):c.1891G>C (p.Asp631His)
|
rs552400144
|
|
NM_206933.4(USH2A):c.2081G>C (p.Cys694Ser)
|
rs137954284
|
|
NM_206933.4(USH2A):c.2087G>T (p.Cys696Phe)
|
rs1352007983
|
|
NM_206933.4(USH2A):c.2185T>C (p.Cys729Arg)
|
rs2102546492
|
|
NM_206933.4(USH2A):c.2309AAG[1] (p.Glu771del)
|
rs1553320519
|
|
NM_206933.4(USH2A):c.2390_2410dup (p.Leu803_Pro804insArgAspThrAlaGlySerLeu)
|
rs1553320498
|
|
NM_206933.4(USH2A):c.2410C>T (p.Pro804Ser)
|
rs2036063280
|
|
NM_206933.4(USH2A):c.2435_2446del (p.Thr812_Cys815del)
|
rs757082108
|
|
NM_206933.4(USH2A):c.253A>G (p.Ile85Val)
|
rs770983063
|
|
NM_206933.4(USH2A):c.264C>G (p.Cys88Trp)
|
rs368798834
|
|
NM_206933.4(USH2A):c.2750G>A (p.Ser917Asn)
|
rs776323626
|
|
NM_206933.4(USH2A):c.2836A>G (p.Thr946Ala)
|
rs754932972
|
|
NM_206933.4(USH2A):c.2942G>A (p.Arg981His)
|
|
|
NM_206933.4(USH2A):c.2994A>T (p.Arg998Ser)
|
rs1553316429
|
|
NM_206933.4(USH2A):c.3008A>G (p.Asn1003Ser)
|
rs2035366945
|
|
NM_206933.4(USH2A):c.3026C>A (p.Ala1009Asp)
|
rs150729680
|
|
NM_206933.4(USH2A):c.3026C>G (p.Ala1009Gly)
|
|
|
NM_206933.4(USH2A):c.3109C>T (p.Pro1037Ser)
|
rs1396798963
|
|
NM_206933.4(USH2A):c.313_321del (p.Leu105_Ser107del)
|
rs1396847135
|
|
NM_206933.4(USH2A):c.3170A>G (p.Gln1057Arg)
|
rs111033377
|
|
NM_206933.4(USH2A):c.3199TCT[1] (p.Ser1068del)
|
rs1461275915
|
|
NM_206933.4(USH2A):c.3250_3251insTACTTACAGTTTACT (p.His1083_Trp1084insLeuLeuThrValTyr)
|
rs1553314999
|
|
NM_206933.4(USH2A):c.3316+6T>C
|
rs373631038
|
|
NM_206933.4(USH2A):c.349C>T (p.His117Tyr)
|
|
|
NM_206933.4(USH2A):c.3596_3598del (p.Glu1199del)
|
rs1294733964
|
|
NM_206933.4(USH2A):c.3660A>G (p.Val1220=)
|
rs2034940102
|
|
NM_206933.4(USH2A):c.3680G>C (p.Gly1227Ala)
|
|
|
NM_206933.4(USH2A):c.3724C>T (p.Pro1242Ser)
|
rs755849364
|
|
NM_206933.4(USH2A):c.3725C>T (p.Pro1242Leu)
|
rs886045954
|
|
NM_206933.4(USH2A):c.3809A>G (p.Asn1270Ser)
|
|
|
NM_206933.4(USH2A):c.3820A>G (p.Ile1274Val)
|
|
|
NM_206933.4(USH2A):c.3884G>A (p.Arg1295Gln)
|
rs372993160
|
|
NM_206933.4(USH2A):c.3884G>T (p.Arg1295Leu)
|
rs372993160
|
|
NM_206933.4(USH2A):c.4024G>C (p.Val1342Leu)
|
rs778505422
|
|
NM_206933.4(USH2A):c.4027A>C (p.Asn1343His)
|
rs754634823
|
|
NM_206933.4(USH2A):c.4036G>A (p.Gly1346Arg)
|
rs1558311789
|
|
NM_206933.4(USH2A):c.4085C>T (p.Pro1362Leu)
|
rs2102460775
|
|
NM_206933.4(USH2A):c.410C>T (p.Ser137Phe)
|
|
|
NM_206933.4(USH2A):c.4129T>A (p.Ser1377Thr)
|
rs2102460604
|
|
NM_206933.4(USH2A):c.4136A>G (p.Asn1379Ser)
|
rs752569816
|
|
NM_206933.4(USH2A):c.415CCT[1] (p.Pro140del)
|
rs773595155
|
|
NM_206933.4(USH2A):c.4251+3A>G
|
rs1181655123
|
|
NM_206933.4(USH2A):c.4251G>T (p.Gln1417His)
|
rs2102460239
|
|
NM_206933.4(USH2A):c.4276G>A (p.Glu1426Lys)
|
rs886045952
|
|
NM_206933.4(USH2A):c.4282T>C (p.Ser1428Pro)
|
rs369185265
|
|
NM_206933.4(USH2A):c.4307C>T (p.Pro1436Leu)
|
rs1230923403
|
|
NM_206933.4(USH2A):c.4342A>C (p.Asn1448His)
|
|
|
NM_206933.4(USH2A):c.4349T>C (p.Val1450Ala)
|
rs886045951
|
|
NM_206933.4(USH2A):c.4385C>G (p.Thr1462Ser)
|
rs2034687815
|
|
NM_206933.4(USH2A):c.4412G>C (p.Arg1471Thr)
|
rs369357349
|
|
NM_206933.4(USH2A):c.442_443inv (p.Phe148Asn)
|
|
|
NM_206933.4(USH2A):c.4521_4522insCAGTCA (p.Ser1507_Ser1508insGlnSer)
|
rs1553310736
|
|
NM_206933.4(USH2A):c.4558A>T (p.Ile1520Phe)
|
rs770790346
|
|
NM_206933.4(USH2A):c.4627+1091T>C
|
rs886045945
|
|
NM_206933.4(USH2A):c.4627+28A>G
|
rs773190850
|
|
NM_206933.4(USH2A):c.4627+330A>G
|
rs886045949
|
|
NM_206933.4(USH2A):c.4627+343A>G
|
rs2034344204
|
|
NM_206933.4(USH2A):c.4627+36C>T
|
rs577393945
|
|
NM_206933.4(USH2A):c.4627+442C>G
|
rs1037400670
|
|
NM_206933.4(USH2A):c.4627+48A>T
|
rs74874838
|
|
NM_206933.4(USH2A):c.4627+512G>A
|
rs2034341678
|
|
NM_206933.4(USH2A):c.4627+589C>A
|
rs886045948
|
|
NM_206933.4(USH2A):c.4627+813C>T
|
rs192047831
|
|
NM_206933.4(USH2A):c.4627+974T>C
|
rs2034329165
|
|
NM_206933.4(USH2A):c.4744C>T (p.Leu1582Phe)
|
rs866592573
|
|
NM_206933.4(USH2A):c.4771G>A (p.Glu1591Lys)
|
rs2102565367
|
|
NM_206933.4(USH2A):c.486-1G>C
|
rs876657730
|
|
NM_206933.4(USH2A):c.5047A>G (p.Asn1683Asp)
|
rs2102561202
|
|
NM_206933.4(USH2A):c.5074G>T (p.Asp1692Tyr)
|
rs1571948108
|
|
NM_206933.4(USH2A):c.5167+4A>G
|
rs397518019
|
|
NM_206933.4(USH2A):c.5255T>G (p.Leu1752Trp)
|
rs1469348824
|
|
NM_206933.4(USH2A):c.5273A>G (p.Asn1758Ser)
|
|
|
NM_206933.4(USH2A):c.5282G>A (p.Gly1761Glu)
|
rs2102559662
|
|
NM_206933.4(USH2A):c.5298+3A>G
|
rs775992706
|
|
NM_206933.4(USH2A):c.5454_5455insAGAAATGGA (p.Gly1818_Leu1819insArgAsnGly)
|
rs1553299065
|
|
NM_206933.4(USH2A):c.5471C>T (p.Ser1824Leu)
|
rs748792761
|
|
NM_206933.4(USH2A):c.5479G>A (p.Gly1827Arg)
|
|
|
NM_206933.4(USH2A):c.5504C>T (p.Ser1835Leu)
|
rs199645514
|
|
NM_206933.4(USH2A):c.5561_5572+7dup
|
rs1553299014
|
|
NM_206933.4(USH2A):c.5603T>G (p.Phe1868Cys)
|
rs1553298240
|
|
NM_206933.4(USH2A):c.5653A>G (p.Arg1885Gly)
|
|
|
NM_206933.4(USH2A):c.5666A>G (p.Asp1889Gly)
|
rs775803174
|
|
NM_206933.4(USH2A):c.5708A>G (p.Asn1903Ser)
|
rs1162070622
|
|
NM_206933.4(USH2A):c.5726A>T (p.Tyr1909Phe)
|
rs761586978
|
|
NM_206933.4(USH2A):c.5775A>G (p.Thr1925=)
|
rs747419030
|
|
NM_206933.4(USH2A):c.5813G>T (p.Gly1938Val)
|
rs2031607385
|
|
NM_206933.4(USH2A):c.5819T>C (p.Val1940Ala)
|
rs2031607129
|
|
NM_206933.4(USH2A):c.5959T>A (p.Tyr1987Asn)
|
rs747652397
|
|
NM_206933.4(USH2A):c.598G>C (p.Val200Leu)
|
rs781022362
|
|
NM_206933.4(USH2A):c.6047C>A (p.Thr2016Lys)
|
|
|
NM_206933.4(USH2A):c.6083A>G (p.Tyr2028Cys)
|
|
|
NM_206933.4(USH2A):c.6118T>G (p.Cys2040Gly)
|
rs878853412
|
|
NM_206933.4(USH2A):c.6134A>T (p.His2045Leu)
|
rs111033514
|
|
NM_206933.4(USH2A):c.6163G>A (p.Ala2055Thr)
|
rs768233523
|
|
NM_206933.4(USH2A):c.6167_6169del (p.Pro2056del)
|
rs776262139
|
|
NM_206933.4(USH2A):c.6253A>G (p.Ile2085Val)
|
|
|
NM_206933.4(USH2A):c.637C>T (p.His213Tyr)
|
rs2039613657
|
|
NM_206933.4(USH2A):c.651+15A>G
|
rs765252898
|
|
NM_206933.4(USH2A):c.6511G>A (p.Gly2171Arg)
|
rs1668203744
|
|
NM_206933.4(USH2A):c.6565A>G (p.Ile2189Val)
|
rs542406401
|
|
NM_206933.4(USH2A):c.6687T>G (p.Ser2229Arg)
|
rs926930916
|
|
NM_206933.4(USH2A):c.6728G>T (p.Gly2243Val)
|
rs201526850
|
|
NM_206933.4(USH2A):c.672C>A (p.Ser224Arg)
|
rs1571744237
|
|
NM_206933.4(USH2A):c.6730G>A (p.Val2244Met)
|
rs550772689
|
|
NM_206933.4(USH2A):c.6874C>T (p.Arg2292Cys)
|
rs727503722
|
|
NM_206933.4(USH2A):c.6902T>C (p.Leu2301Ser)
|
rs759494205
|
|
NM_206933.4(USH2A):c.6971C>T (p.Thr2324Ile)
|
rs1667318951
|
|
NM_206933.4(USH2A):c.7028G>A (p.Arg2343Gln)
|
|
|
NM_206933.4(USH2A):c.706C>A (p.Pro236Thr)
|
rs762558966
|
|
NM_206933.4(USH2A):c.7100G>A (p.Gly2367Glu)
|
rs1017425051
|
|
NM_206933.4(USH2A):c.7225A>C (p.Thr2409Pro)
|
rs2102499658
|
|
NM_206933.4(USH2A):c.7238A>C (p.Asn2413Thr)
|
rs780840434
|
|
NM_206933.4(USH2A):c.7340_7348del (p.Thr2447_Thr2449del)
|
rs1665478442
|
|
NM_206933.4(USH2A):c.7342C>G (p.Pro2448Ala)
|
rs1553274535
|
|
NM_206933.4(USH2A):c.7348A>C (p.Ser2450Arg)
|
|
|
NM_206933.4(USH2A):c.736A>G (p.Ile246Val)
|
rs746975879
|
|
NM_206933.4(USH2A):c.7397C>T (p.Ser2466Phe)
|
rs1665475399
|
|
NM_206933.4(USH2A):c.7415A>C (p.Gln2472Pro)
|
rs2102470142
|
|
NM_206933.4(USH2A):c.7452G>T (p.Glu2484Asp)
|
rs397518031
|
|
NM_206933.4(USH2A):c.7492A>T (p.Ser2498Cys)
|
rs754310768
|
|
NM_206933.4(USH2A):c.7526G>A (p.Arg2509Gln)
|
|
|
NM_206933.4(USH2A):c.7633A>G (p.Lys2545Glu)
|
rs774559456
|
|
NM_206933.4(USH2A):c.7684G>T (p.Val2562Phe)
|
rs397518033
|
|
NM_206933.4(USH2A):c.7765C>G (p.His2589Asp)
|
rs747492773
|
|
NM_206933.4(USH2A):c.7915T>C (p.Ser2639Pro)
|
rs398124620
|
|
NM_206933.4(USH2A):c.7939C>T (p.Pro2647Ser)
|
rs1414367127
|
|
NM_206933.4(USH2A):c.8063C>T (p.Ser2688Phe)
|
rs1205473124
|
|
NM_206933.4(USH2A):c.8188C>T (p.Pro2730Ser)
|
rs768532694
|
|
NM_206933.4(USH2A):c.8262_8264del (p.Leu2755del)
|
rs1553272199
|
|
NM_206933.4(USH2A):c.8275A>G (p.Ile2759Val)
|
|
|
NM_206933.4(USH2A):c.8284C>G (p.Pro2762Ala)
|
rs1188281491
|
|
NM_206933.4(USH2A):c.8318C>T (p.Ser2773Phe)
|
rs1413784848
|
|
NM_206933.4(USH2A):c.836C>A (p.Ala279Glu)
|
rs2102658782
|
|
NM_206933.4(USH2A):c.8393G>C (p.Gly2798Ala)
|
rs886044303
|
|
NM_206933.4(USH2A):c.8395G>T (p.Gly2799Cys)
|
rs1026326311
|
|
NM_206933.4(USH2A):c.841A>C (p.Thr281Pro)
|
rs2037760472
|
|
NM_206933.4(USH2A):c.849-4A>G
|
rs765189933
|
|
NM_206933.4(USH2A):c.854T>C (p.Ile285Thr)
|
rs397518038
|
|
NM_206933.4(USH2A):c.85T>A (p.Ser29Thr)
|
|
|
NM_206933.4(USH2A):c.8682-17A>G
|
rs1553271011
|
|
NM_206933.4(USH2A):c.8693A>C (p.Tyr2898Ser)
|
rs1553270997
|
|
NM_206933.4(USH2A):c.8783G>A (p.Gly2928Glu)
|
|
|
NM_206933.4(USH2A):c.8845+6_8845+9del
|
rs541344995
|
|
NM_206933.4(USH2A):c.8992T>C (p.Ser2998Pro)
|
rs886043586
|
|
NM_206933.4(USH2A):c.9014G>C (p.Ser3005Thr)
|
rs1553268568
|
|
NM_206933.4(USH2A):c.907C>T (p.Arg303Cys)
|
|
|
NM_206933.4(USH2A):c.9086TCA[2] (p.Ile3031del)
|
rs764038940
|
|
NM_206933.4(USH2A):c.9127_9129del (p.Pro3043del)
|
rs760448755
|
|
NM_206933.4(USH2A):c.920G>T (p.Ser307Ile)
|
rs1553250805
|
|
NM_206933.4(USH2A):c.9275T>G (p.Ile3092Arg)
|
rs373286445
|
|
NM_206933.4(USH2A):c.9335_9358del (p.Asp3112_Arg3119del)
|
rs773379163
|
|
NM_206933.4(USH2A):c.9413G>A (p.Gly3138Asp)
|
rs756163056
|
|
NM_206933.4(USH2A):c.9413G>C (p.Gly3138Ala)
|
rs756163056
|
|
NM_206933.4(USH2A):c.9503G>T (p.Cys3168Phe)
|
rs746007103
|
|
NM_206933.4(USH2A):c.950G>A (p.Arg317Gln)
|
rs760741238
|
|
NM_206933.4(USH2A):c.9527_9529del (p.Pro3176_Glu3177delinsGln)
|
rs1553265812
|
|
NM_206933.4(USH2A):c.9773G>A (p.Arg3258Gln)
|
|
|
NM_206933.4(USH2A):c.9803G>A (p.Cys3268Tyr)
|
rs1662225145
|
|
NM_206933.4(USH2A):c.9813G>T (p.Met3271Ile)
|
rs137876918
|
|
NM_206933.4(USH2A):c.9860_9873del (p.His3287fs)
|
rs1388040238
|
|
NM_206933.4(USH2A):c.9921TGG[1] (p.Gly3309del)
|
rs773436260
|
|
NM_206933.4(USH2A):c.9958G>T (p.Gly3320Cys)
|
rs1285853856
|
|
NM_206933.4(USH2A):c.9962T>C (p.Met3321Thr)
|
rs2102770144
|
|
NM_206933.4(USH2A):c.9976C>T (p.Gln3326Ter)
|
rs1288381992
|
|
NM_212552.3(BOLA3):c.*134T>C
|
rs1692305544
|
|
NM_212552.3(BOLA3):c.131T>G (p.Phe44Cys)
|
rs1692522564
|
|
NM_212552.3(BOLA3):c.170G>A (p.Gly57Glu)
|
|
|
NM_212552.3(BOLA3):c.181G>A (p.Ala61Thr)
|
rs747762311
|
|
NM_212552.3(BOLA3):c.21C>T (p.Ala7=)
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rs1008159965
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NM_212552.3(BOLA3):c.253A>G (p.Asn85Asp)
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rs2103649867
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NM_212552.3(BOLA3):c.295C>T (p.Arg99Trp)
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NM_212552.3(BOLA3):c.308_309del (p.Ser103fs)
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NM_212552.3(BOLA3):c.82A>C (p.Thr28Pro)
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Single allele
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