NM_002150.3(HPD):c.97A>G (p.Thr33Ala)
|
rs1154510
|
0.88222
|
NM_001918.5(DBT):c.1150A>G (p.Ser384Gly)
|
rs12021720
|
0.87100
|
NM_001127222.2(CACNA1A):c.6657T>C (p.His2219=)
|
rs16051
|
0.67380
|
NM_000017.4(ACADS):c.990C>T (p.Arg330=)
|
rs3915
|
0.59445
|
NM_014336.5(AIPL1):c.277-10A>C
|
rs12453262
|
0.52383
|
NM_000017.4(ACADS):c.321T>C (p.Arg107=)
|
rs3914
|
0.51709
|
NM_000277.3(PAH):c.441+47C>T
|
rs1718301
|
0.37849
|
NM_000274.4(OAT):c.1134C>T (p.Asn378=)
|
rs11461
|
0.33660
|
NM_000277.3(PAH):c.353-22C>T
|
rs2037639
|
0.23047
|
NM_000170.3(GLDC):c.501G>A (p.Glu167=)
|
rs35374927
|
0.22564
|
NM_000320.2(QDPR):c.-81delC
|
rs67496406
|
0.22322
|
NM_000277.3(PAH):c.168+19T>C
|
rs17842947
|
0.21168
|
NM_016335.6(PRODH):c.1278C>T (p.Asp426=)
|
rs16983466
|
0.20443
|
NM_000277.3(PAH):c.735G>A (p.Val245=)
|
rs1042503
|
0.19782
|
NM_014336.5(AIPL1):c.268G>C (p.Asp90His)
|
rs12449580
|
0.19586
|
NM_206933.4(USH2A):c.11504C>T (p.Thr3835Ile)
|
rs11120616
|
0.19146
|
NM_000350.3(ABCA4):c.6764G>T (p.Ser2255Ile)
|
rs6666652
|
0.17582
|
NM_000019.4(ACAT1):c.471C>A (p.Ser157=)
|
rs35188041
|
0.16806
|
NM_000350.3(ABCA4):c.6730-3T>C
|
rs1800717
|
0.15096
|
NM_000350.3(ABCA4):c.6249C>T (p.Ile2083=)
|
rs1801359
|
0.13311
|
NM_000350.3(ABCA4):c.6282+7G>A
|
rs17110761
|
0.13306
|
NM_004183.4(BEST1):c.219C>A (p.Ile73=)
|
rs1109748
|
0.10271
|
NM_001127222.2(CACNA1A):c.3310G>A (p.Gly1104Ser)
|
rs16027
|
0.07737
|
NM_206933.4(USH2A):c.1931A>T (p.Asp644Val)
|
rs1805048
|
0.04940
|
NM_206933.4(USH2A):c.8656C>T (p.Leu2886Phe)
|
rs41277200
|
0.04760
|
NM_206933.4(USH2A):c.15522T>C (p.Tyr5174=)
|
rs77792891
|
0.04524
|
NM_002454.3(MTRR):c.1155G>A (p.Leu385=)
|
rs2287779
|
0.04224
|
NM_001034853.2(RPGR):c.223A>G (p.Ile75Val)
|
rs111631988
|
0.03363
|
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)
|
rs13078881
|
0.03225
|
NM_000277.3(PAH):c.707-7A>T
|
rs62508624
|
0.02868
|
NM_000531.6(OTC):c.809A>G (p.Gln270Arg)
|
rs1800328
|
0.02868
|
NM_012213.3(MLYCD):c.850A>G (p.Thr284Ala)
|
rs62640903
|
0.02854
|
NM_000554.6(CRX):c.472G>A (p.Ala158Thr)
|
rs61748445
|
0.02598
|
NM_000329.3(RPE65):c.1301C>T (p.Ala434Val)
|
rs34627040
|
0.02403
|
NM_206933.4(USH2A):c.15377T>C (p.Ile5126Thr)
|
rs111033266
|
0.02380
|
NM_015662.3(IFT172):c.337-12C>T
|
rs79529534
|
0.02365
|
NM_025136.4(OPA3):c.-38A>G
|
rs45527139
|
0.02241
|
NM_004698.4(PRPF3):c.1760-12C>T
|
rs116427288
|
0.02182
|
NM_001034853.2(RPGR):c.552G>T (p.Gln184His)
|
rs5963403
|
0.02128
|
NM_178857.6(RP1L1):c.844A>C (p.Asn282His)
|
rs75814156
|
0.02124
|
NM_001127222.2(CACNA1A):c.6378C>T (p.Ser2126=)
|
rs16050
|
0.02098
|
NM_000018.4(ACADVL):c.49C>T (p.Leu17Phe)
|
rs2230179
|
0.02069
|
NM_000071.3(CBS):c.316+130G>A
|
rs73372393
|
0.02025
|
NM_178857.6(RP1L1):c.1478G>A (p.Arg493Gln)
|
rs79401306
|
0.02007
|
NM_206933.4(USH2A):c.6713A>C (p.Glu2238Ala)
|
rs41277212
|
0.01991
|
NM_001394090.1(CFAP92):c.3281-2342G>A
|
rs116106966
|
0.01973
|
NM_006445.4(PRPF8):c.1290-10A>G
|
rs73291009
|
0.01904
|
NM_006445.4(PRPF8):c.2873-13T>C
|
rs57276551
|
0.01890
|
NM_006017.3(PROM1):c.631-14T>C
|
rs16892824
|
0.01810
|
NM_000182.5(HADHA):c.1620+11G>C
|
rs112236946
|
0.01807
|
NM_021831.6(AGBL5):c.2046T>A (p.Ser682=)
|
rs34931609
|
0.01806
|
NM_001127222.2(CACNA1A):c.3989+16A>G
|
rs149764550
|
0.01798
|
NM_014336.5(AIPL1):c.341C>T (p.Thr114Ile)
|
rs8069375
|
0.01781
|
NM_013247.5(HTRA2):c.480C>G (p.Ala160=)
|
rs2231248
|
0.01771
|
NM_018368.4(LMBRD1):c.980+11T>C
|
rs114726590
|
0.01756
|
NM_012418.4(FSCN2):c.381G>A (p.Pro127=)
|
rs34454351
|
0.01717
|
NM_031885.5(BBS2):c.612+12C>A
|
rs77019529
|
0.01713
|
NM_013247.5(HTRA2):c.421G>T (p.Ala141Ser)
|
rs72470544
|
0.01709
|
NM_000188.3(HK1):c.1031+6T>C
|
rs57012387
|
0.01704
|
NM_004183.4(BEST1):c.618G>A (p.Leu206=)
|
rs62641693
|
0.01704
|
NM_004183.4(BEST1):c.619C>A (p.Leu207Ile)
|
rs74653691
|
0.01704
|
NM_005589.4(ALDH6A1):c.349-13G>A
|
rs45510700
|
0.01704
|
NM_003124.5(SPR):c.-7C>G
|
rs184034436
|
0.01663
|
NM_000360.4(TH):c.1035G>T (p.Ala345=)
|
rs11826260
|
0.01611
|
NM_015629.4(PRPF31):c.1230A>G (p.Thr410=)
|
rs34154455
|
0.01460
|
NM_002225.5(IVD):c.*2285C>G
|
rs114657778
|
0.01453
|
NM_001330260.2(SCN8A):c.1833G>T (p.Arg611=)
|
rs35242963
|
0.01438
|
NM_002860.4(ALDH18A1):c.1115C>A (p.Ser372Tyr)
|
rs3765571
|
0.01418
|
NM_012469.4(PRPF6):c.120A>G (p.Ala40=)
|
rs34062309
|
0.01415
|
NM_031885.5(BBS2):c.1413A>C (p.Val471=)
|
rs35294865
|
0.01415
|
NM_001278064.2(GRM1):c.2651G>A (p.Gly884Glu)
|
rs362936
|
0.01411
|
NM_001003841.3(SLC6A19):c.966C>T (p.Tyr322=)
|
rs115133359
|
0.01389
|
NM_016247.4(IMPG2):c.828+17_828+18insC
|
rs199824990
|
0.01356
|
NM_014003.4(DHX38):c.1386+17C>T
|
rs117948289
|
0.01329
|
NM_014336.5(AIPL1):c.286G>A (p.Val96Ile)
|
rs62619924
|
0.01285
|
NM_014714.4(IFT140):c.2330T>G (p.Leu777Arg)
|
rs34535263
|
0.01269
|
NM_021831.6(AGBL5):c.2375G>A (p.Arg792Gln)
|
rs61354909
|
0.01267
|
NM_000360.4(TH):c.1278G>A (p.Thr426=)
|
rs36097848
|
0.01234
|
NM_000170.3(GLDC):c.2203-19G>A
|
rs13440229
|
0.01223
|
NM_181776.3(SLC36A2):c.1044C>T (p.Ala348=)
|
rs34910192
|
0.01216
|
NM_000687.4(AHCY):c.112C>T (p.Arg38Trp)
|
rs13043752
|
0.01213
|
NM_206933.4(USH2A):c.5572+15G>A
|
rs17026052
|
0.01200
|
NM_001001563.5(TIMM50):c.26C>G (p.Ser9Trp)
|
rs35135520
|
0.01198
|
NM_014714.4(IFT140):c.3990G>A (p.Ala1330=)
|
rs61745103
|
0.01137
|
NM_005589.4(ALDH6A1):c.*2517T>C
|
rs145794069
|
0.01119
|
NM_018368.4(LMBRD1):c.801C>T (p.Arg267=)
|
rs34327883
|
0.01106
|
NM_001164665.2(KIAA1549):c.958G>A (p.Asp320Asn)
|
rs61978615
|
0.01092
|
NM_001297.5(CNGB1):c.3527C>T (p.Pro1176Leu)
|
rs73562944
|
0.01041
|
NM_001134707.2(SARDH):c.473A>G (p.Asn158Ser)
|
rs146886270
|
0.01035
|
NM_000283.4(PDE6B):c.2331C>T (p.Phe777=)
|
rs35792756
|
0.01026
|
NM_003042.4(SLC6A1):c.1002A>G (p.Ala334=)
|
rs35513423
|
0.01020
|
NM_015662.3(IFT172):c.571-15C>G
|
rs75809198
|
0.01015
|
NM_014384.3(ACAD8):c.210+6C>T
|
rs148089913
|
0.01003
|
NM_004974.4(KCNA2):c.1392T>G (p.Gly464=)
|
rs115456625
|
0.00993
|
NM_006269.2(RP1):c.1118C>T (p.Thr373Ile)
|
rs77775126
|
0.00985
|
NM_001605.3(AARS1):c.2900A>T (p.Lys967Met)
|
rs35744709
|
0.00971
|
NM_206933.4(USH2A):c.13763C>A (p.Ser4588Tyr)
|
rs78253373
|
0.00962
|
NM_018474.6(KIZ):c.1809C>T (p.Phe603=)
|
rs34011504
|
0.00950
|
NM_005050.4(ABCD4):c.195T>C (p.Ser65=)
|
rs35417609
|
0.00937
|
NM_000018.4(ACADVL):c.623-8C>T
|
rs144996066
|
0.00919
|
NM_014270.5(SLC7A9):c.1119G>A (p.Ser373=)
|
rs111630604
|
0.00913
|
NM_005589.4(ALDH6A1):c.731-12T>C
|
rs10146187
|
0.00912
|
NM_014252.4(SLC25A15):c.623-17A>G
|
rs191780003
|
0.00905
|
NM_000709.4(BCKDHA):c.34C>A (p.Arg12=)
|
rs34541442
|
0.00893
|
NM_000187.4(HGD):c.1179T>C (p.Asp393=)
|
rs146482816
|
0.00886
|
NM_003060.4(SLC22A5):c.-319C>A
|
rs60978556
|
0.00870
|
NM_001918.5(DBT):c.724T>C (p.Ser242Pro)
|
rs146249007
|
0.00864
|
NM_178857.6(RP1L1):c.1691C>G (p.Ser564Cys)
|
rs77585543
|
0.00860
|
NM_000320.3(QDPR):c.436+19A>G
|
rs112111831
|
0.00851
|
NM_001034853.2(RPGR):c.2057T>A (p.Met686Lys)
|
rs151247357
|
0.00794
|
NM_015629.4(PRPF31):c.420+7G>A
|
rs143717956
|
0.00780
|
NM_015662.3(IFT172):c.1338T>C (p.Asn446=)
|
rs61743327
|
0.00780
|
NM_030928.4(CDT1):c.1521G>A (p.Pro507=)
|
rs139633564
|
0.00773
|
NM_015702.3(MMADHC):c.87A>C (p.Lys29Asn)
|
rs61750442
|
0.00751
|
NM_002900.3(RBP3):c.1503C>T (p.Ala501=)
|
rs34700898
|
0.00743
|
NM_206933.4(USH2A):c.11048-15C>T
|
rs74141403
|
0.00740
|
NM_005327.7(HADH):c.881A>G (p.Asn294Ser)
|
rs36030668
|
0.00738
|
NM_000170.3(GLDC):c.2380G>A (p.Ala794Thr)
|
rs141933811
|
0.00728
|
NM_001080442.3(SLC38A8):c.190-8C>T
|
rs1876961
|
0.00719
|
NM_032861.4(SERAC1):c.1684+168T>C
|
rs141960153
|
0.00719
|
NM_032861.4(SERAC1):c.1684+209T>C
|
rs148162521
|
0.00718
|
NM_144639.3(UROC1):c.132G>A (p.Ala44=)
|
rs146351941
|
0.00710
|
NM_003042.4(SLC6A1):c.960C>T (p.Ser320=)
|
rs35972647
|
0.00702
|
NM_177965.4(CFAP418):c.243+20T>C
|
rs10107484
|
0.00690
|
NM_001164665.2(KIAA1549):c.4716C>T (p.Ile1572=)
|
rs28523576
|
0.00683
|
NM_000341.4(SLC3A1):c.892-6C>G
|
rs114640930
|
0.00651
|
NM_001278064.2(GRM1):c.3214C>G (p.Pro1072Ala)
|
rs146753539
|
0.00646
|
NM_001605.3(AARS1):c.1404C>T (p.Tyr468=)
|
rs117598688
|
0.00646
|
NM_206933.4(USH2A):c.848+5G>C
|
rs74329863
|
0.00641
|
NM_003611.3(OFD1):c.714T>C (p.Tyr238=)
|
rs139848884
|
0.00637
|
NM_016373.4(WWOX):c.107+252C>T
|
rs58108921
|
0.00633
|
NM_152419.3(HGSNAT):c.1693G>C (p.Gly565Arg)
|
rs148632988
|
0.00633
|
NM_003060.4(SLC22A5):c.*959A>C
|
rs14701
|
0.00632
|
NM_000282.4(PCCA):c.1846-9G>T
|
rs141118743
|
0.00627
|
NM_020949.3(SLC7A14):c.2164G>A (p.Gly722Arg)
|
rs144541220
|
0.00614
|
NM_000255.4(MMUT):c.1333-18T>G
|
rs111667453
|
0.00608
|
NM_206933.4(USH2A):c.9262G>A (p.Glu3088Lys)
|
rs56056328
|
0.00606
|
NM_003611.3(OFD1):c.2929-18C>T
|
rs180940027
|
0.00601
|
NM_006445.4(PRPF8):c.5469C>T (p.His1823=)
|
rs115404141
|
0.00600
|
NM_001698.3(AUH):c.77G>A (p.Cys26Tyr)
|
rs74484860
|
0.00593
|
NM_001352514.2(HLCS):c.726C>T (p.Pro242=)
|
rs2230182
|
0.00587
|
NM_000170.3(GLDC):c.871T>G (p.Cys291Gly)
|
rs141014950
|
0.00580
|
NM_004483.5(GCSH):c.292+9T>G
|
rs8177909
|
0.00574
|
NM_005802.5(TOPORS):c.2160C>T (p.Tyr720=)
|
rs74328058
|
0.00561
|
NM_144639.3(UROC1):c.562C>T (p.Arg188Trp)
|
rs34488036
|
0.00558
|
NM_004453.4(ETFDH):c.1533T>C (p.Asp511=)
|
rs77484245
|
0.00552
|
NM_020686.6(ABAT):c.954+16C>T
|
rs41311266
|
0.00550
|
NM_181776.3(SLC36A2):c.273G>A (p.Leu91=)
|
rs35403441
|
0.00541
|
NM_001164665.2(KIAA1549):c.3052A>T (p.Ile1018Leu)
|
rs185695096
|
0.00534
|
NM_001330260.2(SCN8A):c.4122T>A (p.Thr1374=)
|
rs115623439
|
0.00531
|
NM_014714.4(IFT140):c.4040+11G>A
|
rs144624901
|
0.00530
|
NM_015662.3(IFT172):c.4272G>A (p.Gln1424=)
|
rs147850047
|
0.00526
|
NM_000137.4(FAH):c.315-14G>A
|
rs139830755
|
0.00521
|
NM_000554.6(CRX):c.724G>A (p.Val242Met)
|
rs61748459
|
0.00521
|
NM_178857.6(RP1L1):c.3955G>A (p.Ala1319Thr)
|
rs73201156
|
0.00515
|
NM_001164665.2(KIAA1549):c.4930-14A>G
|
rs80130913
|
0.00514
|
NM_015662.3(IFT172):c.4659+16T>C
|
rs143060452
|
0.00514
|
NM_004408.4(DNM1):c.46C>A (p.Leu16Met)
|
rs61757224
|
0.00511
|
NM_000254.3(MTR):c.3474G>A (p.Leu1158=)
|
rs142113735
|
0.00510
|
NM_001081.4(CUBN):c.4696-16G>T
|
rs140260072
|
0.00504
|
NM_001876.4(CPT1A):c.863G>A (p.Arg288Gln)
|
rs140958507
|
0.00501
|
NM_004172.5(SLC1A3):c.342G>A (p.Lys114=)
|
rs34809305
|
0.00501
|
NM_001193313.2(SUGCT):c.985C>T (p.Arg329Trp)
|
rs137852860
|
0.00490
|
NM_006445.4(PRPF8):c.4467C>T (p.Leu1489=)
|
rs113849788
|
0.00488
|
NM_206933.4(USH2A):c.10851C>T (p.Asn3617=)
|
rs12073994
|
0.00488
|
NM_001001563.5(TIMM50):c.598-15C>T
|
rs45611439
|
0.00486
|
NM_000329.3(RPE65):c.1155G>A (p.Thr385=)
|
rs62653014
|
0.00481
|
NM_002150.3(HPD):c.414G>A (p.Thr138=)
|
rs140788110
|
0.00479
|
NM_014336.5(AIPL1):c.1126C>T (p.Pro376Ser)
|
rs61757484
|
0.00475
|
NM_152419.3(HGSNAT):c.1250+7G>A
|
rs74795999
|
0.00475
|
NM_014249.4(NR2E3):c.361G>A (p.Glu121Lys)
|
rs146403122
|
0.00472
|
NM_030813.6(CLPB):c.668G>A (p.Ser223Asn)
|
rs143097446
|
0.00471
|
NM_018706.7(DHTKD1):c.2121C>A (p.Asp707Glu)
|
rs35046964
|
0.00470
|
NM_005763.4(AASS):c.1678C>T (p.Pro560Ser)
|
rs74882337
|
0.00469
|
NM_000126.4(ETFA):c.351+17T>C
|
rs138629105
|
0.00467
|
NM_001127222.2(CACNA1A):c.6342C>G (p.Thr2114=)
|
rs16049
|
0.00467
|
NM_006269.2(RP1):c.616-6T>C
|
rs186571865
|
0.00458
|
NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr)
|
rs41276886
|
0.00451
|
NM_000283.4(PDE6B):c.101C>T (p.Ala34Val)
|
rs148829093
|
0.00434
|
NM_001081.4(CUBN):c.2791+9_2791+16del
|
rs375796983
|
0.00423
|
NM_206933.4(USH2A):c.9459C>T (p.Cys3153=)
|
rs73090721
|
0.00422
|
NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg)
|
rs45549044
|
0.00419
|
NM_032861.4(SERAC1):c.1134C>T (p.Gly378=)
|
rs116763934
|
0.00417
|
NM_018474.6(KIZ):c.1024C>G (p.Pro342Ala)
|
rs151319642
|
0.00412
|
NM_032861.4(SERAC1):c.440C>T (p.Thr147Met)
|
rs114443105
|
0.00411
|
NM_032861.4(SERAC1):c.1155A>G (p.Gln385=)
|
rs116173262
|
0.00410
|
NM_001698.3(AUH):c.927A>G (p.Glu309=)
|
rs78739693
|
0.00399
|
NM_206933.4(USH2A):c.8458G>A (p.Val2820Ile)
|
rs59174500
|
0.00394
|
NM_001875.5(CPS1):c.1214C>A (p.Thr405Asn)
|
rs138254425
|
0.00392
|
NM_001127222.2(CACNA1A):c.5067+20G>A
|
rs184517632
|
0.00390
|
NM_001201543.2(FAM161A):c.1133T>G (p.Leu378Arg)
|
rs187695569
|
0.00389
|
NM_006269.2(RP1):c.5701C>T (p.Leu1901Phe)
|
rs113793810
|
0.00389
|
NM_031885.5(BBS2):c.1110T>C (p.Ala370=)
|
rs148990271
|
0.00389
|
NM_003611.3(OFD1):c.2663A>C (p.Lys888Thr)
|
rs149647255
|
0.00381
|
NM_206933.4(USH2A):c.15433G>A (p.Val5145Ile)
|
rs111033269
|
0.00379
|
NM_001985.3(ETFB):c.58-96G>A
|
rs140608276
|
0.00376
|
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)
|
rs104894313
|
0.00375
|
NM_000071.3(CBS):c.1039+19C>T
|
rs182908734
|
0.00373
|
NM_001134707.2(SARDH):c.1299G>A (p.Pro433=)
|
rs147188337
|
0.00372
|
NM_001029883.3(PCARE):c.3447G>A (p.Pro1149=)
|
rs200278694
|
0.00371
|
NM_001271.4(CHD2):c.2577+7T>C
|
rs146944583
|
0.00371
|
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)
|
rs77931234
|
0.00363
|
NM_005327.7(HADH):c.662G>A (p.Arg221His)
|
rs76476980
|
0.00358
|
NM_000341.4(SLC3A1):c.1035G>A (p.Glu345=)
|
rs78795495
|
0.00357
|
NM_000255.4(MMUT):c.1083+20T>C
|
rs200148994
|
0.00356
|
NM_004279.3(PMPCB):c.935G>A (p.Cys312Tyr)
|
rs1057797
|
0.00356
|
NM_004453.4(ETFDH):c.381C>T (p.Leu127=)
|
rs149278633
|
0.00355
|
NM_000531.6(OTC):c.-366A>G
|
rs191615506
|
0.00354
|
NM_005589.4(ALDH6A1):c.414A>G (p.Val138=)
|
rs4899491
|
0.00354
|
NM_206933.4(USH2A):c.14543G>A (p.Arg4848Gln)
|
rs77211159
|
0.00354
|
NM_014014.5(SNRNP200):c.3654C>T (p.Ser1218=)
|
rs3214060
|
0.00353
|
NM_000182.5(HADHA):c.1843A>G (p.Asn615Asp)
|
rs61731155
|
0.00349
|
NM_206933.4(USH2A):c.15562A>G (p.Ser5188Gly)
|
rs58257972
|
0.00343
|
NM_003060.4(SLC22A5):c.1368A>G (p.Thr456=)
|
rs142355575
|
0.00335
|
NM_004483.5(GCSH):c.53C>T (p.Ala18Val)
|
rs540997326
|
0.00326
|
NM_000350.3(ABCA4):c.1878G>A (p.Ala626=)
|
rs61754023
|
0.00324
|
NM_002900.3(RBP3):c.1296G>A (p.Val432=)
|
rs147336433
|
0.00318
|
NM_014270.5(SLC7A9):c.978-17G>A
|
rs45628833
|
0.00315
|
NM_000019.4(ACAT1):c.1068T>C (p.Phe356=)
|
rs139657823
|
0.00308
|
NM_181776.3(SLC36A2):c.1191C>T (p.Ala397=)
|
rs149847490
|
0.00308
|
NM_000187.4(HGD):c.711C>A (p.Arg237=)
|
rs147204182
|
0.00302
|
NM_001985.3(ETFB):c.58-212A>C
|
rs143144671
|
0.00299
|
NM_006445.4(PRPF8):c.2493C>G (p.Ser831=)
|
rs146749363
|
0.00299
|
NM_003611.3(OFD1):c.1923G>A (p.Glu641=)
|
rs145300245
|
0.00298
|
NM_001029883.3(PCARE):c.3522C>T (p.Asp1174=)
|
rs188815175
|
0.00296
|
NM_001081.4(CUBN):c.2103A>G (p.Thr701=)
|
rs143693723
|
0.00290
|
NM_004975.4(KCNB1):c.2334C>T (p.Leu778=)
|
rs142111310
|
0.00290
|
NM_014714.4(IFT140):c.2988T>C (p.Asn996=)
|
rs78178397
|
0.00290
|
NM_001278064.2(GRM1):c.2043T>C (p.Arg681=)
|
rs143682838
|
0.00289
|
NM_001278064.2(GRM1):c.2496T>C (p.Thr832=)
|
rs142675468
|
0.00288
|
NM_016335.6(PRODH):c.1562G>A (p.Arg521Gln)
|
rs450046
|
0.00287
|
NM_181776.3(SLC36A2):c.915C>T (p.Ile305=)
|
rs138947074
|
0.00283
|
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp)
|
rs141090143
|
0.00278
|
NM_000254.3(MTR):c.250-7G>A
|
rs184332230
|
0.00277
|
NM_001958.5(EEF1A2):c.1266C>A (p.Gly422=)
|
rs202102758
|
0.00277
|
NM_002454.3(MTRR):c.1326C>T (p.Leu442=)
|
rs144781389
|
0.00274
|
NM_016373.4(WWOX):c.1134C>T (p.Asn378=)
|
rs201088847
|
0.00274
|
NM_014714.4(IFT140):c.492-20C>T
|
rs149012740
|
0.00273
|
NM_004172.5(SLC1A3):c.1489T>C (p.Leu497=)
|
rs150357327
|
0.00272
|
NM_002900.3(RBP3):c.2650G>A (p.Val884Met)
|
rs11204213
|
0.00269
|
NM_001003841.3(SLC6A19):c.555G>A (p.Thr185=)
|
rs115871703
|
0.00268
|
NM_001358263.1(HK1):c.53T>C (p.Leu18Pro)
|
rs79002951
|
0.00265
|
NM_001271.4(CHD2):c.608A>G (p.Lys203Arg)
|
rs117844037
|
0.00256
|
NM_001081.4(CUBN):c.5011A>C (p.Arg1671=)
|
rs144472791
|
0.00255
|
NM_005629.4(SLC6A8):c.1494C>T (p.Tyr498=)
|
rs143916832
|
0.00249
|
NM_000276.4(OCRL):c.439+3A>G
|
rs61752971
|
0.00248
|
NM_005629.4(SLC6A8):c.813C>T (p.Val271=)
|
rs138064933
|
0.00248
|
NM_014714.4(IFT140):c.1524+14C>G
|
rs369481491
|
0.00241
|
NM_012418.4(FSCN2):c.49G>A (p.Val17Ile)
|
rs137853900
|
0.00240
|
NM_004975.4(KCNB1):c.1389T>A (p.Ile463=)
|
rs115929614
|
0.00239
|
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr)
|
rs79389353
|
0.00238
|
NM_001605.3(AARS1):c.1672-4T>A
|
rs187509039
|
0.00236
|
NM_003982.4(SLC7A7):c.1380C>G (p.Ile460Met)
|
rs139415285
|
0.00235
|
NM_000329.3(RPE65):c.881A>C (p.Lys294Thr)
|
rs61752901
|
0.00232
|
NM_005518.4(HMGCS2):c.1419G>A (p.Lys473=)
|
rs142776952
|
0.00228
|
NM_018474.6(KIZ):c.1331C>G (p.Ser444Cys)
|
rs80251208
|
0.00225
|
NM_000350.3(ABCA4):c.466A>G (p.Ile156Val)
|
rs62646863
|
0.00222
|
NM_144631.6(ZNF513):c.781G>A (p.Val261Met)
|
rs61742428
|
0.00214
|
NM_002150.3(HPD):c.813C>T (p.Thr271=)
|
rs144416002
|
0.00209
|
NM_178857.6(RP1L1):c.444T>G (p.Leu148=)
|
rs112609335
|
0.00208
|
NM_001034853.2(RPGR):c.2793G>A (p.Glu931=)
|
rs1446705794
|
0.00203
|
NM_000017.4(ACADS):c.529T>C (p.Trp177Arg)
|
rs57443665
|
0.00202
|
NM_005327.7(HADH):c.643C>A (p.Pro215Thr)
|
rs140413151
|
0.00198
|
NM_001003841.3(SLC6A19):c.117G>A (p.Ala39=)
|
rs149830504
|
0.00197
|
NM_001330260.2(SCN8A):c.141C>T (p.Asp47=)
|
rs149013279
|
0.00196
|
NM_005327.7(HADH):c.456G>T (p.Gln152His)
|
rs1051519
|
0.00195
|
NM_012418.4(FSCN2):c.1092C>T (p.Ile364=)
|
rs188142101
|
0.00195
|
NM_021072.4(HCN1):c.2172C>T (p.Ala724=)
|
rs56217199
|
0.00191
|
NM_002454.3(MTRR):c.739C>T (p.Pro247Ser)
|
rs114053717
|
0.00190
|
NM_000532.5(PCCB):c.373-1292C>T
|
rs117604575
|
0.00188
|
NM_001278064.2(GRM1):c.3161G>A (p.Gly1054Asp)
|
rs145764886
|
0.00188
|
NM_005957.5(MTHFR):c.1959G>A (p.Thr653=)
|
rs45572531
|
0.00187
|
NM_000350.3(ABCA4):c.838A>T (p.Met280Leu)
|
rs138682163
|
0.00183
|
NM_001330260.2(SCN8A):c.4278G>A (p.Arg1426=)
|
rs143867796
|
0.00183
|
NM_005957.5(MTHFR):c.1409A>T (p.Glu470Val)
|
rs142617551
|
0.00183
|
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln)
|
rs137852769
|
0.00182
|
NM_000883.4(IMPDH1):c.1108G>A (p.Ala370Thr)
|
rs72624961
|
0.00179
|
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)
|
rs61751374
|
0.00178
|
NM_005957.5(MTHFR):c.1555C>T (p.Arg519Cys)
|
rs45496998
|
0.00176
|
NM_000108.5(DLD):c.826A>T (p.Thr276Ser)
|
rs148873419
|
0.00175
|
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr)
|
rs121912691
|
0.00175
|
NM_000372.5(TYR):c.1366+4A>G
|
rs61754398
|
0.00175
|
NM_000282.4(PCCA):c.1284+16G>A
|
rs113610934
|
0.00169
|
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr)
|
rs114925667
|
0.00169
|
NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn)
|
rs121434346
|
0.00168
|
NM_031885.5(BBS2):c.1081-18G>T
|
rs142558653
|
0.00166
|
NM_005050.4(ABCD4):c.1411C>T (p.Arg471Trp)
|
rs45568335
|
0.00163
|
NM_000532.5(PCCB):c.1490C>T (p.Ala497Val)
|
rs142403318
|
0.00162
|
NM_014714.4(IFT140):c.4040+15C>G
|
rs373703197
|
0.00160
|
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln)
|
rs150555106
|
0.00158
|
NM_001003841.3(SLC6A19):c.775-4G>A
|
rs144753758
|
0.00158
|
NM_001297.5(CNGB1):c.1204G>A (p.Asp402Asn)
|
rs140907154
|
0.00157
|
NM_206933.4(USH2A):c.3364T>G (p.Ser1122Ala)
|
rs148135241
|
0.00152
|
NM_016335.6(PRODH):c.1217C>T (p.Pro406Leu)
|
rs3970555
|
0.00149
|
NM_181776.3(SLC36A2):c.882C>T (p.His294=)
|
rs74403861
|
0.00146
|
NM_004937.3(CTNS):c.327C>T (p.Thr109=)
|
rs150554216
|
0.00141
|
NM_001003841.3(SLC6A19):c.156C>T (p.Leu52=)
|
rs146382764
|
0.00139
|
NM_001330260.2(SCN8A):c.2098A>T (p.Ile700Leu)
|
rs187153231
|
0.00138
|
NM_006445.4(PRPF8):c.3447-12C>T
|
rs148435449
|
0.00138
|
NM_001605.3(AARS1):c.700C>T (p.Pro234Ser)
|
rs141840552
|
0.00137
|
NM_022132.5(MCCC2):c.1322T>C (p.Ile441Thr)
|
rs139852818
|
0.00137
|
NM_015662.3(IFT172):c.4755+9G>C
|
rs375261962
|
0.00135
|
NM_002860.4(ALDH18A1):c.1329C>T (p.Ile443=)
|
rs117709404
|
0.00134
|
NM_014014.5(SNRNP200):c.5766C>T (p.Leu1922=)
|
rs147427344
|
0.00133
|
NM_001875.5(CPS1):c.4252C>T (p.Pro1418Ser)
|
rs150966847
|
0.00131
|
NM_003611.3(OFD1):c.1654+14T>A
|
rs192720874
|
0.00131
|
NM_001127222.2(CACNA1A):c.7262C>T (p.Pro2421Leu)
|
rs573961089
|
0.00130
|
NM_001081.4(CUBN):c.349-8A>G
|
rs188559699
|
0.00129
|
NM_014714.4(IFT140):c.2067+12C>T
|
rs201954701
|
0.00129
|
NM_000836.4(GRIN2D):c.3879C>T (p.His1293=)
|
rs370934587
|
0.00128
|
NM_014714.4(IFT140):c.1359+12G>C
|
rs150859038
|
0.00125
|
NM_001378615.1(CC2D2A):c.2181+7A>C
|
rs143681243
|
0.00124
|
NM_201253.3(CRB1):c.2977G>A (p.Glu993Lys)
|
rs151092557
|
0.00122
|
NM_000048.4(ASL):c.35G>A (p.Arg12Gln)
|
rs145138923
|
0.00120
|
NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val)
|
rs141373204
|
0.00119
|
NM_017739.4(POMGNT1):c.839G>A (p.Ser280Asn)
|
rs142485035
|
0.00119
|
NM_005957.5(MTHFR):c.1556G>T (p.Arg519Leu)
|
rs45449298
|
0.00118
|
NM_206933.4(USH2A):c.4698G>A (p.Gln1566=)
|
rs143218330
|
0.00118
|
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala)
|
rs113994167
|
0.00116
|
NM_001127222.2(CACNA1A):c.1518T>C (p.Val506=)
|
rs16009
|
0.00114
|
NM_000687.4(AHCY):c.-63A>G
|
rs58942263
|
0.00108
|
NM_014049.5(ACAD9):c.988A>C (p.Lys330Gln)
|
rs79530903
|
0.00107
|
NM_000161.3(GCH1):c.*1628A>C
|
rs185031007
|
0.00106
|
NM_000071.3(CBS):c.1643G>A (p.Arg548Gln)
|
rs150828989
|
0.00105
|
NM_001102564.3(IFT43):c.54+15G>T
|
rs372505367
|
0.00105
|
NM_005802.5(TOPORS):c.2349G>A (p.Gly783=)
|
rs147559581
|
0.00105
|
NM_177965.4(CFAP418):c.155+20T>G
|
rs202045168
|
0.00104
|
NM_000709.4(BCKDHA):c.15C>T (p.Ile5=)
|
rs17173144
|
0.00103
|
NM_206933.4(USH2A):c.2256T>C (p.His752=)
|
rs111033281
|
0.00103
|
NM_015662.3(IFT172):c.2443-19A>G
|
rs199907803
|
0.00101
|
NM_015662.3(IFT172):c.2787+20C>T
|
rs200344602
|
0.00100
|
NM_032861.4(SERAC1):c.1137A>G (p.Val379=)
|
rs115846131
|
0.00100
|
NM_144639.3(UROC1):c.40C>T (p.Arg14Trp)
|
rs147828466
|
0.00100
|
NM_006907.4(PYCR1):c.334C>T (p.Arg112Trp)
|
rs147653673
|
0.00097
|
NM_181776.3(SLC36A2):c.426C>T (p.His142=)
|
rs79265984
|
0.00096
|
NM_000183.2(HADHB):c.-124C>G
|
rs575302805
|
0.00095
|
NM_014270.5(SLC7A9):c.1182C>T (p.Ile394=)
|
rs557019592
|
0.00095
|
NM_005334.3(HCFC1):c.5418G>A (p.Met1806Ile)
|
rs199511876
|
0.00094
|
NM_014003.4(DHX38):c.55G>A (p.Asp19Asn)
|
rs145829337
|
0.00094
|
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)
|
rs398124292
|
0.00093
|
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp)
|
rs5030858
|
0.00092
|
NM_014251.3(SLC25A13):c.-115G>T
|
rs543933601
|
0.00089
|
NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter)
|
rs121908140
|
0.00089
|
NM_206933.4(USH2A):c.6670G>T (p.Gly2224Cys)
|
rs149553844
|
0.00089
|
NM_016335.6(PRODH):c.517+19C>T
|
rs370155847
|
0.00088
|
NM_015662.3(IFT172):c.2787+6G>A
|
rs75805075
|
0.00086
|
NM_183050.4(BCKDHB):c.633G>C (p.Lys211Asn)
|
rs143427811
|
0.00086
|
NM_206933.4(USH2A):c.6628C>G (p.Pro2210Ala)
|
rs192115090
|
0.00086
|
NM_201548.5(CERKL):c.375C>G (p.Cys125Trp)
|
rs200711686
|
0.00084
|
NM_000071.3(CBS):c.833T>C (p.Ile278Thr)
|
rs5742905
|
0.00083
|
NM_001081.4(CUBN):c.6821+2T>C
|
rs150901286
|
0.00083
|
NM_001142800.2(EYS):c.4891C>T (p.Pro1631Ser)
|
rs200935518
|
0.00083
|
NM_005802.5(TOPORS):c.2988C>T (p.Leu996=)
|
rs3814518
|
0.00083
|
NM_144639.3(UROC1):c.59G>A (p.Arg20Gln)
|
rs184621973
|
0.00083
|
NM_022132.5(MCCC2):c.1433C>G (p.Ala478Gly)
|
rs35068278
|
0.00082
|
NM_000254.3(MTR):c.1862A>G (p.Asp621Gly)
|
rs61736440
|
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_001081.4(CUBN):c.5733+16C>T
|
rs139579256
|
0.00080
|
NM_015662.3(IFT172):c.3186G>A (p.Val1062=)
|
rs143922405
|
0.00078
|
NM_002225.5(IVD):c.932C>T (p.Ala311Val)
|
rs28940889
|
0.00077
|
NM_003042.4(SLC6A1):c.953+19G>A
|
rs113968319
|
0.00077
|
NM_014714.4(IFT140):c.1083C>T (p.Pro361=)
|
rs143014223
|
0.00077
|
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_015662.3(IFT172):c.5161-20G>A
|
rs372154058
|
0.00076
|
NM_001081.4(CUBN):c.2110+18T>C
|
rs117028815
|
0.00075
|
NM_001142800.2(EYS):c.3694A>T (p.Ile1232Phe)
|
rs190009374
|
0.00075
|
NM_014251.3(SLC25A13):c.1910T>C (p.Val637Ala)
|
rs148962110
|
0.00075
|
NM_014714.4(IFT140):c.3900C>T (p.Tyr1300=)
|
rs148387007
|
0.00075
|
NM_020166.5(MCCC1):c.1792C>A (p.Leu598Met)
|
rs138480247
|
0.00075
|
NM_000016.6(ACADM):c.199T>C (p.Tyr67His)
|
rs121434280
|
0.00073
|
NM_001003841.3(SLC6A19):c.1044C>T (p.Phe348=)
|
rs139103369
|
0.00073
|
NM_001003841.3(SLC6A19):c.558C>T (p.Ser186=)
|
rs140343487
|
0.00073
|
NM_016335.6(PRODH):c.1252-14C>T
|
rs189009057
|
0.00073
|
NM_004937.3(CTNS):c.970G>A (p.Asp324Asn)
|
rs140326392
|
0.00072
|
NM_005881.4(BCKDK):c.717-15C>T
|
rs201213741
|
0.00072
|
NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp)
|
rs200483477
|
0.00072
|
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn)
|
rs146824138
|
0.00071
|
NM_001081.4(CUBN):c.10105A>G (p.Ser3369Gly)
|
rs145023719
|
0.00070
|
NM_000440.3(PDE6A):c.784G>A (p.Ala262Thr)
|
rs148938083
|
0.00069
|
NM_015662.3(IFT172):c.899G>A (p.Arg300Gln)
|
rs146332658
|
0.00068
|
NM_001605.3(AARS1):c.1044G>C (p.Thr348=)
|
rs181264712
|
0.00067
|
NM_015702.3(MMADHC):c.455C>G (p.Thr152Arg)
|
rs146795035
|
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_004408.4(DNM1):c.332C>G (p.Thr111Ser)
|
rs192913494
|
0.00066
|
NM_144596.4(TTC8):c.1327C>T (p.Arg443Trp)
|
rs140698625
|
0.00064
|
NM_001142800.2(EYS):c.3444-15del
|
rs546966286
|
0.00062
|
NM_018368.4(LMBRD1):c.1056del (p.Asn353fs)
|
rs749272546
|
0.00062
|
NM_000255.4(MMUT):c.1444+13G>A
|
rs374285380
|
0.00061
|
NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser)
|
rs386834233
|
0.00061
|
NM_206933.4(USH2A):c.6924A>G (p.Ala2308=)
|
rs148504065
|
0.00061
|
NM_000187.4(HGD):c.1128C>G (p.Asp376Glu)
|
rs150145204
|
0.00060
|
NM_001081.4(CUBN):c.8410+18T>C
|
rs186604664
|
0.00059
|
NM_016335.6(PRODH):c.822C>T (p.Asp274=)
|
rs146178333
|
0.00059
|
NM_020949.3(SLC7A14):c.988G>A (p.Gly330Arg)
|
rs2276717
|
0.00058
|
NM_000277.3(PAH):c.1208C>T (p.Ala403Val)
|
rs5030857
|
0.00057
|
NM_020166.5(MCCC1):c.1942G>A (p.Gly648Ser)
|
rs149017703
|
0.00056
|
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)
|
rs148660051
|
0.00056
|
NM_206933.4(USH2A):c.1961T>C (p.Leu654Pro)
|
rs1321779316
|
0.00056
|
NM_206933.4(USH2A):c.4758+3A>G
|
rs117798425
|
0.00056
|
NM_000017.4(ACADS):c.319C>T (p.Arg107Cys)
|
rs61732144
|
0.00055
|
NM_001164665.2(KIAA1549):c.4214T>C (p.Val1405Ala)
|
rs555092681
|
0.00055
|
NM_206933.4(USH2A):c.2299del (p.Glu767fs)
|
rs80338903
|
0.00055
|
NM_001297.5(CNGB1):c.595C>T (p.Arg199Cys)
|
rs199583058
|
0.00054
|
NM_206933.4(USH2A):c.8320G>A (p.Ala2774Thr)
|
rs111033533
|
0.00054
|
NM_001003841.3(SLC6A19):c.343+11C>T
|
rs146085736
|
0.00053
|
NM_005327.4(HADH):c.-115delG
|
rs537335460
|
0.00053
|
NM_144596.4(TTC8):c.910-16T>G
|
rs199763558
|
0.00053
|
NM_000372.5(TYR):c.1509G>C (p.Lys503Asn)
|
rs138750983
|
0.00052
|
NM_001003841.3(SLC6A19):c.45C>G (p.Ile15Met)
|
rs138390777
|
0.00052
|
NM_001081.4(CUBN):c.2016G>A (p.Pro672=)
|
rs148107237
|
0.00052
|
NM_001102564.3(IFT43):c.136C>T (p.Leu46=)
|
rs151137087
|
0.00052
|
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser)
|
rs202088921
|
0.00052
|
NM_000016.6(ACADM):c.600-18G>A
|
rs370523609
|
0.00051
|
NM_000372.5(TYR):c.1037-7T>A
|
rs61754381
|
0.00051
|
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys)
|
rs61754388
|
0.00051
|
NM_014003.4(DHX38):c.923C>T (p.Thr308Met)
|
rs61749038
|
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_014714.4(IFT140):c.3988G>A (p.Ala1330Thr)
|
rs200699325
|
0.00050
|
NM_206933.4(USH2A):c.15427C>T (p.Arg5143Cys)
|
rs145771342
|
0.00050
|
NM_000277.3(PAH):c.734T>C (p.Val245Ala)
|
rs76212747
|
0.00049
|
NM_001102564.3(IFT43):c.486G>A (p.Ala162=)
|
rs143729954
|
0.00049
|
NM_001875.5(CPS1):c.1021T>G (p.Leu341Val)
|
rs138424013
|
0.00049
|
NM_003982.4(SLC7A7):c.500-20C>G
|
rs375933584
|
0.00049
|
NM_015662.3(IFT172):c.2597A>G (p.Gln866Arg)
|
rs139229844
|
0.00049
|
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln)
|
rs61750641
|
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_181776.3(SLC36A2):c.1392C>T (p.Asp464=)
|
rs144651323
|
0.00048
|
NM_145199.3(LIPT1):c.875C>G (p.Ser292Ter)
|
rs137891647
|
0.00047
|
NM_000017.4(ACADS):c.988C>T (p.Arg330Cys)
|
rs140853839
|
0.00046
|
NM_001034853.2(RPGR):c.1240G>C (p.Glu414Gln)
|
rs150549982
|
0.00046
|
NM_001370658.1(BTD):c.1308A>C (p.Gln436His)
|
rs80338685
|
0.00046
|
NM_005763.4(AASS):c.2762A>G (p.Gln921Arg)
|
rs140285200
|
0.00046
|
NM_000440.3(PDE6A):c.367G>T (p.Asp123Tyr)
|
rs147010346
|
0.00045
|
NM_001080.3(ALDH5A1):c.355-9C>G
|
rs375453445
|
0.00045
|
NM_001102564.3(IFT43):c.383G>A (p.Arg128Gln)
|
rs138684775
|
0.00045
|
NM_000282.4(PCCA):c.1002C>T (p.Thr334=)
|
rs150106872
|
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_000156.5(GAMT):c.-78C>T
|
rs886054249
|
0.00043
|
NM_000156.5(GAMT):c.-79G>A
|
rs966975299
|
0.00043
|
NM_014714.4(IFT140):c.4208G>A (p.Arg1403Gln)
|
rs113216558
|
0.00043
|
NM_015662.3(IFT172):c.2023-15C>A
|
rs377630264
|
0.00043
|
NM_024741.3(ZNF408):c.457C>T (p.Leu153Phe)
|
rs140201502
|
0.00043
|
NM_206933.4(USH2A):c.11815G>A (p.Glu3939Lys)
|
rs146264950
|
0.00043
|
NM_001609.4(ACADSB):c.1102T>C (p.Ser368Pro)
|
rs774205809
|
0.00042
|
NM_004937.3(CTNS):c.562-20T>C
|
rs764063960
|
0.00042
|
NM_014049.5(ACAD9):c.1405C>T (p.Arg469Trp)
|
rs139145143
|
0.00042
|
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_014049.5(ACAD9):c.152A>T (p.Lys51Ile)
|
rs149931573
|
0.00041
|
NM_015662.3(IFT172):c.3674G>A (p.Arg1225Gln)
|
rs141440865
|
0.00041
|
NM_000277.3(PAH):c.1315+1G>A
|
rs5030861
|
0.00040
|
NM_001081.4(CUBN):c.9826+15G>A
|
rs369467797
|
0.00040
|
NM_001102564.3(IFT43):c.369-18G>A
|
rs199590828
|
0.00040
|
NM_014014.5(SNRNP200):c.982+10T>C
|
rs371450437
|
0.00040
|
NM_206933.4(USH2A):c.9340C>T (p.Pro3114Ser)
|
rs201071654
|
0.00040
|
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_014714.4(IFT140):c.3661-18C>T
|
rs575501010
|
0.00039
|
NM_016335.6(PRODH):c.1170C>T (p.Ile390=)
|
rs552700874
|
0.00039
|
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter)
|
rs121909398
|
0.00039
|
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_005629.4(SLC6A8):c.1496-8C>T
|
rs376038235
|
0.00038
|
NM_014249.4(NR2E3):c.119-2A>C
|
rs2723341
|
0.00038
|
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter)
|
rs62637014
|
0.00038
|
NM_016373.4(WWOX):c.935C>A (p.Ser312Tyr)
|
rs79399971
|
0.00038
|
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_016335.6(PRODH):c.1104+16C>T
|
rs182795102
|
0.00037
|
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_000254.3(MTR):c.3712-7T>G
|
rs151081130
|
0.00036
|
NM_000277.3(PAH):c.1139C>T (p.Thr380Met)
|
rs62642937
|
0.00036
|
NM_000350.3(ABCA4):c.5714+5G>A
|
rs61751407
|
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_003982.4(SLC7A7):c.895-2A>T
|
rs146582474
|
0.00036
|
NM_016335.6(PRODH):c.1465G>A (p.Ala489Thr)
|
rs370003523
|
0.00036
|
NM_000277.3(PAH):c.299A>G (p.His100Arg)
|
rs148393887
|
0.00035
|
NM_001081.4(CUBN):c.7533+17G>A
|
rs374394291
|
0.00035
|
NM_003060.4(SLC22A5):c.605T>C (p.Leu202Pro)
|
rs142447950
|
0.00035
|
NM_003982.4(SLC7A7):c.543C>G (p.Thr181=)
|
rs145777568
|
0.00035
|
NM_014714.4(IFT140):c.1359+20G>A
|
rs374488263
|
0.00035
|
NM_000018.4(ACADVL):c.68G>A (p.Arg23Gln)
|
rs34153370
|
0.00034
|
NM_000048.4(ASL):c.532G>A (p.Val178Met)
|
rs28941473
|
0.00034
|
NM_000277.3(PAH):c.898G>T (p.Ala300Ser)
|
rs5030853
|
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_001003841.3(SLC6A19):c.481+12C>G
|
rs370624507
|
0.00034
|
NM_001003841.3(SLC6A19):c.48G>A (p.Pro16=)
|
rs141911612
|
0.00034
|
NM_001003841.3(SLC6A19):c.887+8C>T
|
rs375506845
|
0.00034
|
NM_001010867.4(IBA57):c.574G>A (p.Ala192Thr)
|
rs140163897
|
0.00034
|
NM_001127222.2(CACNA1A):c.1199-17G>C
|
rs190836274
|
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_015506.3(MMACHC):c.440G>C (p.Gly147Ala)
|
rs140522266
|
0.00034
|
NM_017739.4(POMGNT1):c.1539+1G>A
|
rs138642840
|
0.00034
|
NM_000255.4(MMUT):c.1417G>T (p.Ala473Ser)
|
rs188766510
|
0.00033
|
NM_000350.3(ABCA4):c.1964T>G (p.Phe655Cys)
|
rs200692438
|
0.00033
|
NM_001102564.3(IFT43):c.516C>T (p.Val172=)
|
rs372647793
|
0.00033
|
NM_001609.4(ACADSB):c.1187A>C (p.Lys396Thr)
|
rs148640214
|
0.00033
|
NM_004453.4(ETFDH):c.-61C>T
|
rs377679439
|
0.00033
|
NM_012463.4(ATP6V0A2):c.1327-16G>A
|
rs149092701
|
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_000277.3(PAH):c.194T>C (p.Ile65Thr)
|
rs75193786
|
0.00032
|
NM_000666.3(ACY1):c.625C>T (p.Arg209Cys)
|
rs140738368
|
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_001081.4(CUBN):c.5424G>T (p.Val1808=)
|
rs148649437
|
0.00032
|
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln)
|
rs28937873
|
0.00032
|
NM_018474.6(KIZ):c.226C>T (p.Arg76Ter)
|
rs202210819
|
0.00032
|
NM_022367.4(SEMA4A):c.2167C>T (p.Arg723Cys)
|
rs199933282
|
0.00032
|
NM_000170.3(GLDC):c.1000T>C (p.Phe334Leu)
|
rs149133229
|
0.00031
|
NM_000187.4(HGD):c.1102A>G (p.Met368Val)
|
rs120074173
|
0.00031
|
NM_000350.3(ABCA4):c.5461-10T>C
|
rs1800728
|
0.00031
|
NM_000481.4(AMT):c.825T>A (p.Asn275Lys)
|
rs144241950
|
0.00031
|
NM_001003841.3(SLC6A19):c.532C>T (p.Arg178Ter)
|
rs147837686
|
0.00031
|
NM_001081.4(CUBN):c.3116A>G (p.Tyr1039Cys)
|
rs150014503
|
0.00031
|
NM_001081.4(CUBN):c.9705G>A (p.Thr3235=)
|
rs370784621
|
0.00031
|
NM_001243279.3(ACSF3):c.43G>A (p.Ala15Thr)
|
rs375374971
|
0.00031
|
NM_005957.5(MTHFR):c.203G>A (p.Arg68Gln)
|
rs2066472
|
0.00031
|
NM_032601.4(MCEE):c.139C>T (p.Arg47Ter)
|
rs111033538
|
0.00031
|
NM_178857.6(RP1L1):c.954C>T (p.Asp318=)
|
rs200317816
|
0.00031
|
NM_206933.4(USH2A):c.14519T>C (p.Leu4840Pro)
|
rs143275144
|
0.00031
|
NM_206933.4(USH2A):c.9915G>C (p.Glu3305Asp)
|
rs145278250
|
0.00031
|
NM_001081.4(CUBN):c.4701C>T (p.Tyr1567=)
|
rs113941731
|
0.00030
|
NM_001081.4(CUBN):c.7971A>G (p.Pro2657=)
|
rs140160866
|
0.00030
|
NM_001164665.2(KIAA1549):c.116G>A (p.Arg39His)
|
rs867020397
|
0.00030
|
NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter)
|
rs200691042
|
0.00030
|
NM_015506.3(MMACHC):c.19G>A (p.Glu7Lys)
|
rs377405910
|
0.00030
|
NM_015662.3(IFT172):c.886C>T (p.Arg296Trp)
|
rs145541911
|
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_000255.4(MMUT):c.878A>G (p.Gln293Arg)
|
rs138374956
|
0.00029
|
NM_000277.3(PAH):c.688G>A (p.Val230Ile)
|
rs62516152
|
0.00029
|
NM_000360.4(TH):c.406G>A (p.Val136Met)
|
rs142046543
|
0.00029
|
NM_000372.5(TYR):c.140G>A (p.Gly47Asp)
|
rs61753180
|
0.00029
|
NM_000372.5(TYR):c.649C>T (p.Arg217Trp)
|
rs63159160
|
0.00029
|
NM_004937.3(CTNS):c.661G>A (p.Val221Met)
|
rs138270433
|
0.00029
|
NM_014714.4(IFT140):c.3426G>A (p.Ala1142=)
|
rs202224171
|
0.00029
|
NM_016335.6(PRODH):c.578G>A (p.Gly193Asp)
|
rs199907923
|
0.00029
|
NM_031885.5(BBS2):c.-2T>G
|
rs111296910
|
0.00029
|
NM_181776.3(SLC36A2):c.323G>A (p.Cys108Tyr)
|
rs200123093
|
0.00029
|
NM_206933.4(USH2A):c.15364T>C (p.Cys5122Arg)
|
rs111033402
|
0.00029
|
NM_000016.6(ACADM):c.214G>A (p.Glu72Lys)
|
rs374358376
|
0.00028
|
NM_000137.4(FAH):c.1062+5G>A
|
rs80338901
|
0.00028
|
NM_000277.3(PAH):c.1066-11G>A
|
rs5030855
|
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_005957.5(MTHFR):c.673A>G (p.Ile225Val)
|
rs200100285
|
0.00028
|
NM_014362.4(HIBCH):c.957A>G (p.Ser319=)
|
rs3213841
|
0.00028
|
NM_016335.6(PRODH):c.1401C>T (p.Tyr467=)
|
rs200018716
|
0.00028
|
NM_000159.4(GCDH):c.1262C>T (p.Ala421Val)
|
rs121434367
|
0.00027
|
NM_000187.4(HGD):c.221A>T (p.Glu74Val)
|
rs141965690
|
0.00027
|
NM_001081.4(CUBN):c.3646C>G (p.Pro1216Ala)
|
rs145881708
|
0.00027
|
NM_031885.5(BBS2):c.534+20T>C
|
rs369579609
|
0.00027
|
NM_000071.3(CBS):c.1330G>A (p.Asp444Asn)
|
rs28934891
|
0.00026
|
NM_000159.4(GCDH):c.680G>C (p.Arg227Pro)
|
rs121434373
|
0.00026
|
NM_000281.4(PCBD1):c.57C>T (p.Asn19=)
|
rs114265283
|
0.00026
|
NM_001081.4(CUBN):c.2932C>A (p.His978Asn)
|
rs369981313
|
0.00026
|
NM_001081.4(CUBN):c.6560C>T (p.Ser2187Leu)
|
rs143899993
|
0.00026
|
NM_001102564.3(IFT43):c.201C>T (p.Ser67=)
|
rs140127543
|
0.00026
|
NM_001378615.1(CC2D2A):c.1691C>T (p.Thr564Met)
|
rs201954181
|
0.00026
|
NM_001378615.1(CC2D2A):c.4675-15G>A
|
rs377573053
|
0.00026
|
NM_001482.3(GATM):c.484+19C>T
|
rs374556262
|
0.00026
|
NM_002497.4(NEK2):c.863G>A (p.Arg288Gln)
|
rs181112920
|
0.00026
|
NM_003042.4(SLC6A1):c.1250G>A (p.Arg417His)
|
rs191293931
|
0.00026
|
NM_004172.5(SLC1A3):c.68G>A (p.Arg23His)
|
rs199774340
|
0.00026
|
NM_004974.4(KCNA2):c.372G>A (p.Glu124=)
|
rs200499541
|
0.00026
|
NM_006017.3(PROM1):c.604C>G (p.Arg202Gly)
|
rs140872693
|
0.00026
|
NM_012463.4(ATP6V0A2):c.309G>T (p.Lys103Asn)
|
rs144499089
|
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_015662.3(IFT172):c.2949G>A (p.Lys983=)
|
rs141970363
|
0.00026
|
NM_015662.3(IFT172):c.3951+14G>T
|
rs376690357
|
0.00026
|
NM_015662.3(IFT172):c.987G>A (p.Thr329=)
|
rs376714689
|
0.00026
|
NM_020208.4(SLC6A20):c.1744C>T (p.Arg582Cys)
|
rs146474113
|
0.00026
|
NM_031885.5(BBS2):c.1623C>T (p.Gly541=)
|
rs143951580
|
0.00026
|
NM_206933.4(USH2A):c.6001C>T (p.Arg2001Cys)
|
rs141539554
|
0.00026
|
NM_000071.3(CBS):c.919G>A (p.Gly307Ser)
|
rs121964962
|
0.00025
|
NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys)
|
rs5030860
|
0.00025
|
NM_000341.4(SLC3A1):c.680G>A (p.Arg227Gln)
|
rs142469446
|
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_001258392.3(CLPB):c.1132A>G (p.Arg378Gly)
|
rs144078282
|
0.00025
|
NM_001918.5(DBT):c.901C>T (p.Arg301Cys)
|
rs185492864
|
0.00025
|
NM_012463.4(ATP6V0A2):c.614C>T (p.Ala205Val)
|
rs143802431
|
0.00025
|
NM_015506.3(MMACHC):c.126G>A (p.Pro42=)
|
rs201112314
|
0.00025
|
NM_015662.3(IFT172):c.4290C>T (p.Cys1430=)
|
rs551376007
|
0.00025
|
NM_015662.3(IFT172):c.831G>C (p.Glu277Asp)
|
rs150938554
|
0.00025
|
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg)
|
rs121908641
|
0.00025
|
NM_000026.4(ADSL):c.1277G>A (p.Arg426His)
|
rs119450941
|
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_000387.6(SLC25A20):c.358T>C (p.Ser120Pro)
|
rs149174359
|
0.00024
|
NM_000481.4(AMT):c.635T>C (p.Val212Ala)
|
rs201141125
|
0.00024
|
NM_001142800.2(EYS):c.2813A>G (p.Lys938Arg)
|
rs367857088
|
0.00024
|
NM_001698.3(AUH):c.791G>A (p.Gly264Glu)
|
rs376821113
|
0.00024
|
NM_003060.4(SLC22A5):c.1010C>T (p.Thr337Ile)
|
rs142479732
|
0.00024
|
NM_003611.3(OFD1):c.1294A>G (p.Lys432Glu)
|
rs142352920
|
0.00024
|
NM_006907.4(PYCR1):c.508G>A (p.Val170Ile)
|
rs199585131
|
0.00024
|
NM_014714.4(IFT140):c.3173T>C (p.Leu1058Ser)
|
rs141471091
|
0.00024
|
NM_015662.3(IFT172):c.2193+10T>A
|
rs368782783
|
0.00024
|
NM_015662.3(IFT172):c.3952-19C>T
|
rs367962098
|
0.00024
|
NM_031885.5(BBS2):c.1080+14C>T
|
rs375468475
|
0.00024
|
NM_144596.4(TTC8):c.909+18T>C
|
rs111707320
|
0.00024
|
NM_000277.3(PAH):c.165T>G (p.Phe55Leu)
|
rs199475598
|
0.00023
|
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu)
|
rs61750130
|
0.00023
|
NM_003060.4(SLC22A5):c.1643G>A (p.Arg548Lys)
|
rs150775371
|
0.00023
|
NM_003611.3(OFD1):c.2260+12G>A
|
rs375507459
|
0.00023
|
NM_014270.5(SLC7A9):c.368C>T (p.Thr123Met)
|
rs79987078
|
0.00023
|
NM_014714.4(IFT140):c.2768+17C>T
|
rs373280850
|
0.00023
|
NM_016335.6(PRODH):c.606C>T (p.Tyr202=)
|
rs149344100
|
0.00023
|
NM_178857.6(RP1L1):c.3201C>T (p.Gly1067=)
|
rs200462441
|
0.00023
|
NM_000045.4(ARG1):c.474T>C (p.Asp158=)
|
rs144403253
|
0.00022
|
NM_000048.4(ASL):c.299T>C (p.Ile100Thr)
|
rs202142867
|
0.00022
|
NM_000187.4(HGD):c.8A>C (p.Glu3Ala)
|
rs200412910
|
0.00022
|
NM_000276.4(OCRL):c.912T>G (p.Gly304=)
|
rs190659938
|
0.00022
|
NM_000277.3(PAH):c.782G>A (p.Arg261Gln)
|
rs5030849
|
0.00022
|
NM_000350.3(ABCA4):c.3386G>T (p.Arg1129Leu)
|
rs1801269
|
0.00022
|
NM_000360.4(TH):c.1200+11C>T
|
rs372851419
|
0.00022
|
NM_000387.6(SLC25A20):c.198+2T>C
|
rs147540030
|
0.00022
|
NM_000485.3(APRT):c.376G>A (p.Val126Met)
|
rs75205792
|
0.00022
|
NM_001081.4(CUBN):c.7491G>A (p.Leu2497=)
|
rs189314395
|
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_001370658.1(BTD):c.1145A>G (p.Asn382Ser)
|
rs201023772
|
0.00022
|
NM_001918.5(DBT):c.670G>T (p.Glu224Ter)
|
rs74103423
|
0.00022
|
NM_003982.4(SLC7A7):c.882T>C (p.Asp294=)
|
rs750881343
|
0.00022
|
NM_004975.4(KCNB1):c.51G>A (p.Pro17=)
|
rs772184358
|
0.00022
|
NM_014714.4(IFT140):c.179G>A (p.Arg60Lys)
|
rs148093208
|
0.00022
|
NM_016335.6(PRODH):c.780A>G (p.Gln260=)
|
rs202042437
|
0.00022
|
NM_206933.4(USH2A):c.10564A>G (p.Arg3522Gly)
|
rs147374057
|
0.00022
|
NM_206933.4(USH2A):c.8609C>T (p.Pro2870Leu)
|
rs200802261
|
0.00022
|
NM_212552.3(BOLA3):c.45G>T (p.Gly15=)
|
rs531409597
|
0.00022
|
NM_000255.4(MMUT):c.2150G>T (p.Gly717Val)
|
rs121918252
|
0.00021
|
NM_001003841.3(SLC6A19):c.162C>T (p.Asn54=)
|
rs139760936
|
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.813C>T (p.Pro271=)
|
rs139348777
|
0.00021
|
NM_001081.4(CUBN):c.9455-13T>C
|
rs374390875
|
0.00021
|
NM_001142800.2(EYS):c.6876T>C (p.Asn2292=)
|
rs774188028
|
0.00021
|
NM_001142800.2(EYS):c.7723+9T>C
|
rs766087392
|
0.00021
|
NM_001378615.1(CC2D2A):c.2560T>G (p.Trp854Gly)
|
rs747204358
|
0.00021
|
NM_002454.3(MTRR):c.505G>A (p.Val169Met)
|
rs147742177
|
0.00021
|
NM_006915.3(RP2):c.1001C>A (p.Ser334Tyr)
|
rs139796627
|
0.00021
|
NM_014270.5(SLC7A9):c.814G>A (p.Val272Met)
|
rs774871326
|
0.00021
|
NM_014270.5(SLC7A9):c.874-14G>A
|
rs369923725
|
0.00021
|
NM_014714.4(IFT140):c.3033G>A (p.Ala1011=)
|
rs148625428
|
0.00021
|
NM_014714.4(IFT140):c.4144C>T (p.Leu1382=)
|
rs139458566
|
0.00021
|
NM_014714.4(IFT140):c.561G>T (p.Lys187Asn)
|
rs139286030
|
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_144596.4(TTC8):c.1262G>C (p.Arg421Thr)
|
rs374742528
|
0.00021
|
NM_000071.3(CBS):c.856A>G (p.Ile286Val)
|
rs147040567
|
0.00020
|
NM_000182.5(HADHA):c.2131C>A (p.Pro711Thr)
|
rs138966725
|
0.00020
|
NM_000276.4(OCRL):c.105G>A (p.Arg35=)
|
rs142321728
|
0.00020
|
NM_000276.4(OCRL):c.152A>G (p.His51Arg)
|
rs764804719
|
0.00020
|
NM_000277.3(PAH):c.143T>C (p.Leu48Ser)
|
rs5030841
|
0.00020
|
NM_000277.3(PAH):c.506G>A (p.Arg169His)
|
rs199475679
|
0.00020
|
NM_000541.5(SAG):c.577C>T (p.Arg193Ter)
|
rs201153410
|
0.00020
|
NM_001876.4(CPT1A):c.1364A>C (p.Lys455Thr)
|
rs189174414
|
0.00020
|
NM_015662.3(IFT172):c.2521+11C>T
|
rs373403495
|
0.00020
|
NM_016335.6(PRODH):c.1729C>T (p.Arg577Trp)
|
rs184218784
|
0.00020
|
NM_000045.4(ARG1):c.-21A>C
|
rs370747314
|
0.00019
|
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp)
|
rs121434369
|
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_000341.4(SLC3A1):c.808C>T (p.Arg270Ter)
|
rs200483989
|
0.00019
|
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys)
|
rs61750120
|
0.00019
|
NM_000350.3(ABCA4):c.3608G>A (p.Gly1203Glu)
|
rs146786552
|
0.00019
|
NM_000360.4(TH):c.1423G>A (p.Val475Met)
|
rs147585774
|
0.00019
|
NM_000372.5(TYR):c.823G>T (p.Val275Phe)
|
rs104894314
|
0.00019
|
NM_001081.4(CUBN):c.10038C>T (p.His3346=)
|
rs113079734
|
0.00019
|
NM_001081.4(CUBN):c.5428C>T (p.Arg1810Ter)
|
rs143944436
|
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_001102564.3(IFT43):c.16G>C (p.Asp6His)
|
rs201966792
|
0.00019
|
NM_001142800.2(EYS):c.7751C>G (p.Thr2584Ser)
|
rs557892188
|
0.00019
|
NM_001242957.3(MAK):c.356A>G (p.His119Arg)
|
rs200506656
|
0.00019
|
NM_001243279.3(ACSF3):c.721G>A (p.Val241Met)
|
rs145141190
|
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_015662.3(IFT172):c.235A>G (p.Thr79Ala)
|
rs752069515
|
0.00019
|
NM_015662.3(IFT172):c.4815+9G>A
|
rs199667794
|
0.00019
|
NM_020208.4(SLC6A20):c.1646A>G (p.Lys549Arg)
|
rs141811843
|
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_054012.4(ASS1):c.299G>A (p.Arg100His)
|
rs138279074
|
0.00019
|
NM_178857.6(RP1L1):c.5132G>C (p.Gly1711Ala)
|
rs200635063
|
0.00019
|
NM_000159.4(GCDH):c.572T>C (p.Met191Thr)
|
rs149120354
|
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_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe)
|
rs61751408
|
0.00018
|
NM_000372.5(TYR):c.242C>T (p.Pro81Leu)
|
rs28940876
|
0.00018
|
NM_000541.5(SAG):c.1132G>A (p.Val378Ile)
|
rs200602069
|
0.00018
|
NM_001081.4(CUBN):c.8084G>A (p.Gly2695Asp)
|
rs142667203
|
0.00018
|
NM_003060.4(SLC22A5):c.*1244C>T
|
rs184494469
|
0.00018
|
NM_003060.4(SLC22A5):c.695C>T (p.Thr232Met)
|
rs114269482
|
0.00018
|
NM_004937.3(CTNS):c.697G>A (p.Val233Met)
|
rs201058200
|
0.00018
|
NM_014270.5(SLC7A9):c.978-18C>T
|
rs200323617
|
0.00018
|
NM_014714.4(IFT140):c.3543G>A (p.Ser1181=)
|
rs377427370
|
0.00018
|
NM_031885.5(BBS2):c.471+17A>G
|
rs200587401
|
0.00018
|
NM_201548.5(CERKL):c.314G>A (p.Arg105Gln)
|
rs529313774
|
0.00018
|
NM_000016.6(ACADM):c.797A>G (p.Asp266Gly)
|
rs201375579
|
0.00017
|
NM_000156.6(GAMT):c.327G>A (p.Lys109=)
|
rs80338735
|
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_001003841.3(SLC6A19):c.1539-20G>C
|
rs113981520
|
0.00017
|
NM_001003841.3(SLC6A19):c.1545T>A (p.Asn515Lys)
|
rs372599057
|
0.00017
|
NM_001003841.3(SLC6A19):c.684G>A (p.Thr228=)
|
rs148328575
|
0.00017
|
NM_001081.4(CUBN):c.7000+15A>T
|
rs556690868
|
0.00017
|
NM_001102564.3(IFT43):c.444+5G>A
|
rs377078385
|
0.00017
|
NM_001482.3(GATM):c.160G>A (p.Asp54Asn)
|
rs780777061
|
0.00017
|
NM_001876.4(CPT1A):c.851G>A (p.Arg284His)
|
rs144866081
|
0.00017
|
NM_003982.4(SLC7A7):c.954A>T (p.Leu318Phe)
|
rs201534081
|
0.00017
|
NM_014270.5(SLC7A9):c.313G>A (p.Gly105Arg)
|
rs121908480
|
0.00017
|
NM_014336.5(AIPL1):c.1108C>T (p.Pro370Ser)
|
rs139079107
|
0.00017
|
NM_014714.4(IFT140):c.1524+8G>A
|
rs369331038
|
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_016335.6(PRODH):c.1143C>T (p.Ala381=)
|
rs560442727
|
0.00017
|
NM_016335.6(PRODH):c.930-1G>C
|
rs751149776
|
0.00017
|
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter)
|
rs104893851
|
0.00017
|
NM_181776.3(SLC36A2):c.1181-5T>C
|
rs190486100
|
0.00017
|
NM_000108.5(DLD):c.685G>T (p.Gly229Cys)
|
rs121964990
|
0.00016
|
NM_000187.4(HGD):c.481G>A (p.Gly161Arg)
|
rs28941783
|
0.00016
|
NM_000255.4(MMUT):c.1084-12C>T
|
rs373027036
|
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.2125G>A (p.Glu709Lys)
|
rs148637474
|
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.6039C>T (p.Pro2013=)
|
rs149569558
|
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_001127222.2(CACNA1A):c.1983T>C (p.Phe661=)
|
rs368033271
|
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_001164665.2(KIAA1549):c.5577C>T (p.Asp1859=)
|
rs762072316
|
0.00016
|
NM_001297.5(CNGB1):c.1654C>T (p.Arg552Cys)
|
rs370932519
|
0.00016
|
NM_003060.4(SLC22A5):c.1043T>C (p.Ile348Thr)
|
rs150544263
|
0.00016
|
NM_003060.4(SLC22A5):c.791C>T (p.Thr264Met)
|
rs201262157
|
0.00016
|
NM_003982.4(SLC7A7):c.916G>C (p.Gly306Arg)
|
rs144264145
|
0.00016
|
NM_004172.5(SLC1A3):c.1425-8G>C
|
rs202233020
|
0.00016
|
NM_004183.4(BEST1):c.584C>T (p.Ala195Val)
|
rs200277476
|
0.00016
|
NM_006859.4(LIAS):c.173C>T (p.Thr58Ile)
|
rs141723499
|
0.00016
|
NM_014714.4(IFT140):c.2742C>T (p.Ser914=)
|
rs374793763
|
0.00016
|
NM_014714.4(IFT140):c.3562C>T (p.Arg1188Trp)
|
rs575196272
|
0.00016
|
NM_014714.4(IFT140):c.3874-17G>A
|
rs376776316
|
0.00016
|
NM_016373.4(WWOX):c.990C>G (p.Asn330Lys)
|
rs117209694
|
0.00016
|
NM_152419.3(HGSNAT):c.145C>A (p.Leu49Met)
|
rs372961495
|
0.00016
|
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys)
|
rs111033258
|
0.00016
|
NM_174878.3(CLRN1):c.218A>G (p.Gln73Arg)
|
rs201008540
|
0.00016
|
NM_000048.4(ASL):c.857A>G (p.Gln286Arg)
|
rs28941472
|
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_000539.3(RHO):c.310G>A (p.Val104Ile)
|
rs144317206
|
0.00015
|
NM_001081.4(CUBN):c.427A>C (p.Asn143His)
|
rs151018922
|
0.00015
|
NM_001081.4(CUBN):c.5130C>T (p.Ser1710=)
|
rs750798030
|
0.00015
|
NM_003611.3(OFD1):c.2235C>T (p.Ser745=)
|
rs372503752
|
0.00015
|
NM_004937.3(CTNS):c.833T>C (p.Leu278Pro)
|
rs1314998853
|
0.00015
|
NM_005957.5(MTHFR):c.1720G>A (p.Val574Ile)
|
rs202153689
|
0.00015
|
NM_013247.5(HTRA2):c.77G>A (p.Gly26Glu)
|
rs145946172
|
0.00015
|
NM_014714.4(IFT140):c.4205T>C (p.Met1402Thr)
|
rs202129528
|
0.00015
|
NM_015662.3(IFT172):c.5187C>T (p.Asp1729=)
|
rs143671920
|
0.00015
|
NM_015662.3(IFT172):c.706C>T (p.Arg236Cys)
|
rs146290725
|
0.00015
|
NM_016247.4(IMPG2):c.745C>T (p.Leu249Phe)
|
rs376443291
|
0.00015
|
NM_020166.5(MCCC1):c.1894C>T (p.Pro632Ser)
|
rs142867987
|
0.00015
|
NM_022132.5(MCCC2):c.746C>T (p.Ala249Val)
|
rs141676987
|
0.00015
|
NM_205861.3(DHDDS):c.124A>G (p.Lys42Glu)
|
rs147394623
|
0.00015
|
NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg)
|
rs200788251
|
0.00014
|
NM_000159.4(GCDH):c.1198G>A (p.Val400Met)
|
rs121434372
|
0.00014
|
NM_000255.4(MMUT):c.2124+16A>G
|
rs376257828
|
0.00014
|
NM_000276.4(OCRL):c.2415C>T (p.Tyr805=)
|
rs377180274
|
0.00014
|
NM_000276.4(OCRL):c.428C>T (p.Ser143Phe)
|
rs760751280
|
0.00014
|
NM_000277.3(PAH):c.1042C>G (p.Leu348Val)
|
rs62516092
|
0.00014
|
NM_000281.4(PCBD1):c.292C>T (p.Gln98Ter)
|
rs121913015
|
0.00014
|
NM_000329.3(RPE65):c.11+5G>A
|
rs61751276
|
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_000360.4(TH):c.605G>A (p.Arg202His)
|
rs80338892
|
0.00014
|
NM_000372.5(TYR):c.1467dup (p.Ala490fs)
|
rs61754399
|
0.00014
|
NM_000666.3(ACY1):c.575dup (p.Ser192fs)
|
rs770702363
|
0.00014
|
NM_001003841.3(SLC6A19):c.774+10C>T
|
rs372657226
|
0.00014
|
NM_001081.4(CUBN):c.1112-12A>G
|
rs762175932
|
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.2922C>T (p.Phe974=)
|
rs201802902
|
0.00014
|
NM_001081.4(CUBN):c.8913C>T (p.Ser2971=)
|
rs370685424
|
0.00014
|
NM_001081.4(CUBN):c.9035C>T (p.Pro3012Leu)
|
rs143741363
|
0.00014
|
NM_001081.4(CUBN):c.9922T>C (p.Trp3308Arg)
|
rs752843169
|
0.00014
|
NM_001164665.2(KIAA1549):c.3146T>A (p.Val1049Glu)
|
rs200468254
|
0.00014
|
NM_001378615.1(CC2D2A):c.3751G>A (p.Gly1251Arg)
|
rs368180778
|
0.00014
|
NM_004937.3(CTNS):c.332C>T (p.Pro111Leu)
|
rs149689304
|
0.00014
|
NM_014270.5(SLC7A9):c.988G>A (p.Val330Met)
|
rs201618022
|
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_015662.3(IFT172):c.590C>T (p.Pro197Leu)
|
rs368373262
|
0.00014
|
NM_016335.6(PRODH):c.319A>G (p.Lys107Glu)
|
rs140129512
|
0.00014
|
NM_016335.6(PRODH):c.873C>T (p.Ile291=)
|
rs146652616
|
0.00014
|
NM_020208.4(SLC6A20):c.79A>G (p.Asn27Asp)
|
rs371272274
|
0.00014
|
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp)
|
rs28941784
|
0.00014
|
NM_174878.3(CLRN1):c.148_149insTGTC (p.Ser50fs)
|
rs762606406
|
0.00014
|
NM_206933.4(USH2A):c.13477C>T (p.Arg4493Cys)
|
rs144543286
|
0.00014
|
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg)
|
rs121434274
|
0.00013
|
NM_000071.3(CBS):c.146C>T (p.Pro49Leu)
|
rs148865119
|
0.00013
|
NM_000161.3(GCH1):c.-56G>A
|
rs866010535
|
0.00013
|
NM_000187.4(HGD):c.567C>G (p.Ser189Arg)
|
rs750428921
|
0.00013
|
NM_000255.4(MMUT):c.1777G>C (p.Glu593Gln)
|
rs148285323
|
0.00013
|
NM_000276.4(OCRL):c.1587C>G (p.Ala529=)
|
rs375634816
|
0.00013
|
NM_000277.3(PAH):c.65C>A (p.Thr22Lys)
|
rs199565868
|
0.00013
|
NM_000329.3(RPE65):c.370C>T (p.Arg124Ter)
|
rs61752877
|
0.00013
|
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn)
|
rs137852870
|
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_001127222.2(CACNA1A):c.7328C>T (p.Ala2443Val)
|
rs763414737
|
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_002225.5(IVD):c.358G>A (p.Gly120Arg)
|
rs142761835
|
0.00013
|
NM_002497.4(NEK2):c.725A>C (p.Asp242Ala)
|
rs148642058
|
0.00013
|
NM_003124.5(SPR):c.654G>A (p.Met218Ile)
|
rs150078285
|
0.00013
|
NM_003982.4(SLC7A7):c.249C>T (p.Ser83=)
|
rs146077876
|
0.00013
|
NM_014049.5(ACAD9):c.1233G>A (p.Pro411=)
|
rs754767509
|
0.00013
|
NM_014270.5(SLC7A9):c.1369T>C (p.Tyr457His)
|
rs138086959
|
0.00013
|
NM_014714.4(IFT140):c.2886G>A (p.Ala962=)
|
rs201150342
|
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_015506.3(MMACHC):c.584G>C (p.Gly195Ala)
|
rs754862915
|
0.00013
|
NM_152419.3(HGSNAT):c.493+1G>A
|
rs193066451
|
0.00013
|
NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter)
|
rs137853137
|
0.00013
|
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr)
|
rs62645748
|
0.00013
|
NM_001034853.2(RPGR):c.1708A>G (p.Thr570Ala)
|
rs768169831
|
0.00012
|
NM_001081.4(CUBN):c.2738G>C (p.Ser913Thr)
|
rs201589187
|
0.00012
|
NM_001482.3(GATM):c.801A>C (p.Ala267=)
|
rs371507418
|
0.00012
|
NM_002454.3(MTRR):c.973C>A (p.Gln325Lys)
|
rs138098668
|
0.00012
|
NM_004975.4(KCNB1):c.2364G>A (p.Thr788=)
|
rs112132596
|
0.00012
|
NM_012463.4(ATP6V0A2):c.539T>C (p.Ile180Thr)
|
rs754727464
|
0.00012
|
NM_014249.4(NR2E3):c.1195C>A (p.Pro399Thr)
|
rs199564404
|
0.00012
|
NM_014714.4(IFT140):c.2551G>A (p.Val851Met)
|
rs754753583
|
0.00012
|
NM_015662.3(IFT172):c.184-10A>T
|
rs546122503
|
0.00012
|
NM_015662.3(IFT172):c.2442+16T>A
|
rs189737111
|
0.00012
|
NM_015662.3(IFT172):c.39+13G>A
|
rs747789616
|
0.00012
|
NM_020166.5(MCCC1):c.1561G>A (p.Ala521Thr)
|
rs149957640
|
0.00012
|
NM_031885.5(BBS2):c.1157C>T (p.Thr386Met)
|
rs138314289
|
0.00012
|
NM_201253.3(CRB1):c.2681A>G (p.Asn894Ser)
|
rs62636290
|
0.00012
|
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)
|
rs111033364
|
0.00012
|
NM_000159.4(GCDH):c.877G>A (p.Ala293Thr)
|
rs121434371
|
0.00011
|
NM_000170.3(GLDC):c.2518A>G (p.Met840Val)
|
rs781693346
|
0.00011
|
NM_000255.4(MMUT):c.2026G>A (p.Ala676Thr)
|
rs147715336
|
0.00011
|
NM_000277.3(PAH):c.1243G>A (p.Asp415Asn)
|
rs62644499
|
0.00011
|
NM_000281.4(PCBD1):c.205G>A (p.Val69Met)
|
rs200188190
|
0.00011
|
NM_000341.4(SLC3A1):c.1973G>A (p.Arg658His)
|
rs370262167
|
0.00011
|
NM_000372.5(TYR):c.1336G>A (p.Gly446Ser)
|
rs104894317
|
0.00011
|
NM_001003841.3(SLC6A19):c.849C>T (p.Phe283=)
|
rs201416473
|
0.00011
|
NM_001029883.3(PCARE):c.3029G>A (p.Arg1010Gln)
|
rs201772623
|
0.00011
|
NM_001081.4(CUBN):c.5148C>T (p.Phe1716=)
|
rs370581324
|
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_001297.5(CNGB1):c.109G>A (p.Val37Met)
|
rs552372867
|
0.00011
|
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys)
|
rs80338686
|
0.00011
|
NM_001876.4(CPT1A):c.2235G>A (p.Thr745=)
|
rs202208941
|
0.00011
|
NM_001918.5(DBT):c.827T>G (p.Phe276Cys)
|
rs121964999
|
0.00011
|
NM_003322.6(TULP1):c.1496-6C>A
|
rs281865171
|
0.00011
|
NM_003611.3(OFD1):c.795G>A (p.Lys265=)
|
rs745443262
|
0.00011
|
NM_003748.4(ALDH4A1):c.557T>C (p.Ile186Thr)
|
rs375023861
|
0.00011
|
NM_004937.3(CTNS):c.694C>T (p.Arg232Cys)
|
rs138823792
|
0.00011
|
NM_005957.5(MTHFR):c.459C>G (p.Ile153Met)
|
rs767890671
|
0.00011
|
NM_014249.4(NR2E3):c.223G>A (p.Val75Ile)
|
rs750284532
|
0.00011
|
NM_014270.5(SLC7A9):c.176C>T (p.Thr59Met)
|
rs146154087
|
0.00011
|
NM_014270.5(SLC7A9):c.45G>A (p.Ser15=)
|
rs146359100
|
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_015506.3(MMACHC):c.331C>T (p.Arg111Ter)
|
rs121918242
|
0.00011
|
NM_015506.3(MMACHC):c.783G>A (p.Gly261=)
|
rs776623221
|
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.4996G>A (p.Glu1666Lys)
|
rs373098915
|
0.00011
|
NM_016373.4(WWOX):c.591C>G (p.Phe197Leu)
|
rs200847456
|
0.00011
|
NM_031885.5(BBS2):c.1516C>T (p.Arg506Trp)
|
rs560253338
|
0.00011
|
NM_178857.6(RP1L1):c.4482A>G (p.Gln1494=)
|
rs201357374
|
0.00011
|
NM_201253.3(CRB1):c.2488A>T (p.Ile830Phe)
|
rs779451259
|
0.00011
|
NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu)
|
rs143344549
|
0.00011
|
NM_000071.3(CBS):c.1632C>T (p.Ala544=)
|
rs566810122
|
0.00010
|
NM_000137.4(FAH):c.1193G>A (p.Gly398Glu)
|
rs141946827
|
0.00010
|
NM_000137.4(FAH):c.554-1G>T
|
rs80338895
|
0.00010
|
NM_000159.4(GCDH):c.510G>C (p.Lys170Asn)
|
rs200785120
|
0.00010
|
NM_000277.3(PAH):c.280A>G (p.Ile94Val)
|
rs528078207
|
0.00010
|
NM_000277.3(PAH):c.533A>G (p.Glu178Gly)
|
rs77958223
|
0.00010
|
NM_000277.3(PAH):c.842C>T (p.Pro281Leu)
|
rs5030851
|
0.00010
|
NM_000317.3(PTS):c.317C>T (p.Thr106Met)
|
rs200712908
|
0.00010
|
NM_000341.4(SLC3A1):c.572A>G (p.Glu191Gly)
|
rs534054965
|
0.00010
|
NM_000360.4(TH):c.452T>C (p.Val151Ala)
|
rs147569564
|
0.00010
|
NM_000481.4(AMT):c.194A>G (p.His65Arg)
|
rs376248724
|
0.00010
|
NM_001003841.3(SLC6A19):c.195C>T (p.His65=)
|
rs143165913
|
0.00010
|
NM_001029883.3(PCARE):c.1968G>T (p.Arg656Ser)
|
rs201980758
|
0.00010
|
NM_001081.4(CUBN):c.516C>T (p.Asn172=)
|
rs576450214
|
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_001127222.2(CACNA1A):c.6061G>A (p.Glu2021Lys)
|
rs202002033
|
0.00010
|
NM_001258392.3(CLPB):c.748C>G (p.Arg250Gly)
|
rs146762466
|
0.00010
|
NM_001297.5(CNGB1):c.413-1G>A
|
rs189234741
|
0.00010
|
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met)
|
rs104893688
|
0.00010
|
NM_001482.3(GATM):c.-1G>A
|
rs778453861
|
0.00010
|
NM_001698.3(AUH):c.679G>A (p.Ala227Thr)
|
rs141700491
|
0.00010
|
NM_001876.4(CPT1A):c.1340G>A (p.Arg447Gln)
|
rs757593086
|
0.00010
|
NM_003060.4(SLC22A5):c.*1214G>A
|
rs529124788
|
0.00010
|
NM_003060.4(SLC22A5):c.43G>T (p.Gly15Trp)
|
rs267607052
|
0.00010
|
NM_003611.3(OFD1):c.2928+18A>G
|
rs756838502
|
0.00010
|
NM_003748.4(ALDH4A1):c.739C>T (p.Arg247Cys)
|
rs748025331
|
0.00010
|
NM_003982.4(SLC7A7):c.625+10A>G
|
rs200420079
|
0.00010
|
NM_004453.4(ETFDH):c.1603G>T (p.Ala535Ser)
|
rs748346465
|
0.00010
|
NM_004937.3(CTNS):c.414G>A (p.Trp138Ter)
|
rs113994205
|
0.00010
|
NM_006017.3(PROM1):c.-127A>G
|
rs886059206
|
0.00010
|
NM_014251.3(SLC25A13):c.1814G>A (p.Arg605Gln)
|
rs548194276
|
0.00010
|
NM_014714.4(IFT140):c.1146G>A (p.Thr382=)
|
rs200975046
|
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.768G>A (p.Leu256=)
|
rs775181670
|
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_017739.4(POMGNT1):c.355G>A (p.Val119Met)
|
rs148498470
|
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_031885.5(BBS2):c.1895G>C (p.Arg632Pro)
|
rs138043021
|
0.00010
|
NM_031885.5(BBS2):c.823C>T (p.Arg275Ter)
|
rs121908177
|
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.1688T>G (p.Val563Gly)
|
rs773104757
|
0.00010
|
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro)
|
rs79761867
|
0.00010
|
NM_206933.4(USH2A):c.7379G>A (p.Arg2460His)
|
rs368681648
|
0.00010
|
NM_000026.4(ADSL):c.340T>C (p.Tyr114His)
|
rs374259530
|
0.00009
|
NM_000161.3(GCH1):c.328C>G (p.Gln110Glu)
|
rs748944982
|
0.00009
|
NM_000255.4(MMUT):c.1676+10T>C
|
rs199886805
|
0.00009
|
NM_000255.4(MMUT):c.2087A>C (p.Asp696Ala)
|
rs759407117
|
0.00009
|
NM_000277.3(PAH):c.117C>G (p.Phe39Leu)
|
rs62642926
|
0.00009
|
NM_000277.3(PAH):c.721C>T (p.Arg241Cys)
|
rs76687508
|
0.00009
|
NM_000277.3(PAH):c.838G>A (p.Glu280Lys)
|
rs62508698
|
0.00009
|
NM_000282.4(PCCA):c.232-20A>G
|
rs376850891
|
0.00009
|
NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu)
|
rs61750145
|
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_000687.4(AHCY):c.428A>G (p.Tyr143Cys)
|
rs121918608
|
0.00009
|
NM_000709.4(BCKDHA):c.1233C>T (p.Asp411=)
|
rs200363605
|
0.00009
|
NM_000709.4(BCKDHA):c.853G>C (p.Ala285Pro)
|
rs398123508
|
0.00009
|
NM_001080.3(ALDH5A1):c.32G>A (p.Gly11Glu)
|
rs373315916
|
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.2961C>T (p.Asn987=)
|
rs148712017
|
0.00009
|
NM_001081.4(CUBN):c.536G>T (p.Gly179Val)
|
rs370373276
|
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.2105-15C>T
|
rs190471428
|
0.00009
|
NM_001378615.1(CC2D2A):c.786C>T (p.Asp262=)
|
rs200434902
|
0.00009
|
NM_001698.3(AUH):c.998C>T (p.Pro333Leu)
|
rs541546111
|
0.00009
|
NM_001875.5(CPS1):c.1154T>C (p.Ile385Thr)
|
rs201955205
|
0.00009
|
NM_003060.4(SLC22A5):c.1400C>G (p.Ser467Cys)
|
rs60376624
|
0.00009
|
NM_003611.3(OFD1):c.1271A>G (p.Asn424Ser)
|
rs532274932
|
0.00009
|
NM_003982.4(SLC7A7):c.273G>A (p.Ala91=)
|
rs754387668
|
0.00009
|
NM_004937.3(CTNS):c.684C>T (p.Arg228=)
|
rs762346133
|
0.00009
|
NM_006915.3(RP2):c.751A>G (p.Arg251Gly)
|
rs190443020
|
0.00009
|
NM_012463.4(ATP6V0A2):c.28A>G (p.Met10Val)
|
rs758214692
|
0.00009
|
NM_014714.4(IFT140):c.1504G>A (p.Val502Ile)
|
rs183261797
|
0.00009
|
NM_014714.4(IFT140):c.1995C>T (p.Ala665=)
|
rs200653061
|
0.00009
|
NM_014714.4(IFT140):c.2199+19C>T
|
rs773530788
|
0.00009
|
NM_014714.4(IFT140):c.2844C>T (p.Tyr948=)
|
rs777036003
|
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.462T>C (p.Phe154=)
|
rs199747998
|
0.00009
|
NM_015506.3(MMACHC):c.650A>T (p.Glu217Val)
|
rs199641732
|
0.00009
|
NM_015506.3(MMACHC):c.699A>G (p.Leu233=)
|
rs377439596
|
0.00009
|
NM_015662.3(IFT172):c.145C>T (p.Arg49Trp)
|
rs141043554
|
0.00009
|
NM_015662.3(IFT172):c.1608C>T (p.Asp536=)
|
rs749114212
|
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.4210G>A (p.Gly1404Ser)
|
rs763238244
|
0.00009
|
NM_016335.6(PRODH):c.174G>T (p.Ala58=)
|
rs931875471
|
0.00009
|
NM_018474.6(KIZ):c.284C>T (p.Thr95Ile)
|
rs367970443
|
0.00009
|
NM_020208.4(SLC6A20):c.1A>G (p.Met1Val)
|
rs149885788
|
0.00009
|
NM_031885.5(BBS2):c.612+18G>A
|
rs200364314
|
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_054012.4(ASS1):c.1003C>T (p.Arg335Cys)
|
rs373514077
|
0.00009
|
NM_054012.4(ASS1):c.919C>T (p.Arg307Cys)
|
rs183276875
|
0.00009
|
NM_144596.4(TTC8):c.1294G>A (p.Glu432Lys)
|
rs114401181
|
0.00009
|
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg)
|
rs144332569
|
0.00009
|
NM_177965.4(CFAP418):c.194G>T (p.Ser65Ile)
|
rs969339085
|
0.00009
|
NM_177965.4(CFAP418):c.375-16T>A
|
rs756845953
|
0.00009
|
NM_201548.5(CERKL):c.949C>T (p.Arg317Cys)
|
rs142530341
|
0.00009
|
NM_206933.4(USH2A):c.12332C>T (p.Ser4111Phe)
|
rs142095945
|
0.00009
|
NM_206933.4(USH2A):c.2035G>A (p.Gly679Arg)
|
rs367693972
|
0.00009
|
NM_206933.4(USH2A):c.2167+5G>A
|
rs771583281
|
0.00009
|
NM_206933.4(USH2A):c.2414G>C (p.Gly805Ala)
|
rs587783023
|
0.00009
|
NM_212552.3(BOLA3):c.296G>A (p.Arg99Gln)
|
rs202046520
|
0.00009
|
NM_000017.4(ACADS):c.1147C>T (p.Arg383Cys)
|
rs28940872
|
0.00008
|
NM_000017.4(ACADS):c.136C>T (p.Arg46Trp)
|
rs121908003
|
0.00008
|
NM_000071.3(CBS):c.1224-2A>C
|
rs375846341
|
0.00008
|
NM_000071.3(CBS):c.847G>A (p.Glu283Lys)
|
rs765811825
|
0.00008
|
NM_000126.4(ETFA):c.797C>T (p.Thr266Met)
|
rs119458970
|
0.00008
|
NM_000159.4(GCDH):c.946G>A (p.Ala316Thr)
|
rs370059118
|
0.00008
|
NM_000276.4(OCRL):c.11C>T (p.Pro4Leu)
|
rs770815981
|
0.00008
|
NM_000277.3(PAH):c.1045T>C (p.Ser349Pro)
|
rs62508646
|
0.00008
|
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly)
|
rs5030856
|
0.00008
|
NM_000329.3(RPE65):c.253C>T (p.Arg85Cys)
|
rs763317722
|
0.00008
|
NM_000341.4(SLC3A1):c.1011+12T>C
|
rs370288046
|
0.00008
|
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys)
|
rs61750200
|
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.4216G>A (p.Gly1406Arg)
|
rs771763775
|
0.00008
|
NM_001081.4(CUBN):c.6613G>A (p.Gly2205Arg)
|
rs140883483
|
0.00008
|
NM_001102564.3(IFT43):c.445-15T>C
|
rs745766333
|
0.00008
|
NM_001127222.2(CACNA1A):c.3634G>T (p.Asp1212Tyr)
|
rs201269793
|
0.00008
|
NM_001127222.2(CACNA1A):c.979-10C>A
|
rs374647321
|
0.00008
|
NM_001142800.2(EYS):c.2259C>T (p.Leu753=)
|
rs781359405
|
0.00008
|
NM_001142800.2(EYS):c.5928-2A>G
|
rs181169439
|
0.00008
|
NM_001142800.2(EYS):c.8999T>C (p.Ile3000Thr)
|
rs778823043
|
0.00008
|
NM_001278293.3(ARL6):c.350-7C>T
|
rs375454860
|
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_002150.3(HPD):c.356G>A (p.Arg119Gln)
|
rs149180825
|
0.00008
|
NM_003060.4(SLC22A5):c.1568A>G (p.Gln523Arg)
|
rs28383482
|
0.00008
|
NM_003611.3(OFD1):c.2584T>G (p.Ser862Ala)
|
rs797045846
|
0.00008
|
NM_003982.4(SLC7A7):c.250G>A (p.Val84Ile)
|
rs368317123
|
0.00008
|
NM_012213.3(MLYCD):c.446G>A (p.Gly149Asp)
|
rs773196234
|
0.00008
|
NM_014270.5(SLC7A9):c.977+17G>A
|
rs376464833
|
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_014714.4(IFT140):c.3639G>A (p.Thr1213=)
|
rs747655543
|
0.00008
|
NM_014714.4(IFT140):c.4183-20T>C
|
rs371461352
|
0.00008
|
NM_014714.4(IFT140):c.634G>A (p.Gly212Arg)
|
rs201188361
|
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_015662.3(IFT172):c.3933G>A (p.Ala1311=)
|
rs143011753
|
0.00008
|
NM_015662.3(IFT172):c.732C>T (p.Thr244=)
|
rs778790509
|
0.00008
|
NM_020208.4(SLC6A20):c.354+2T>A
|
rs531515127
|
0.00008
|
NM_031885.5(BBS2):c.1381G>A (p.Val461Met)
|
rs377000980
|
0.00008
|
NM_031885.5(BBS2):c.1528-15G>T
|
rs368282063
|
0.00008
|
NM_032601.4(MCEE):c.345C>A (p.Asn115Lys)
|
rs548542949
|
0.00008
|
NM_144596.4(TTC8):c.1347+18G>A
|
rs368504643
|
0.00008
|
NM_144596.4(TTC8):c.905A>G (p.Tyr302Cys)
|
rs370111364
|
0.00008
|
NM_181776.3(SLC36A2):c.766T>C (p.Leu256=)
|
rs780286885
|
0.00008
|
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val)
|
rs111033524
|
0.00008
|
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe)
|
rs121912600
|
0.00008
|
NM_000016.6(ACADM):c.250C>T (p.Leu84Phe)
|
rs762114560
|
0.00007
|
NM_000016.6(ACADM):c.583G>A (p.Gly195Arg)
|
rs121434278
|
0.00007
|
NM_000048.4(ASL):c.1153C>T (p.Arg385Cys)
|
rs28940286
|
0.00007
|
NM_000187.4(HGD):c.125A>C (p.Glu42Ala)
|
rs373921680
|
0.00007
|
NM_000255.4(MMUT):c.1963C>T (p.Arg655Cys)
|
rs541001298
|
0.00007
|
NM_000274.4(OAT):c.1110C>T (p.Ala370=)
|
rs148325838
|
0.00007
|
NM_000277.3(PAH):c.1174T>A (p.Phe392Ile)
|
rs180819807
|
0.00007
|
NM_000277.3(PAH):c.473G>A (p.Arg158Gln)
|
rs5030843
|
0.00007
|
NM_000277.3(PAH):c.896T>G (p.Phe299Cys)
|
rs62642933
|
0.00007
|
NM_000281.4(PCBD1):c.27C>T (p.Ser9=)
|
rs547375927
|
0.00007
|
NM_000282.4(PCCA):c.1284+1G>A
|
rs752761437
|
0.00007
|
NM_000341.4(SLC3A1):c.1354C>T (p.Arg452Trp)
|
rs201502095
|
0.00007
|
NM_000341.4(SLC3A1):c.247C>T (p.Arg83Cys)
|
rs148946634
|
0.00007
|
NM_000360.4(TH):c.1024C>T (p.Arg342Cys)
|
rs555810288
|
0.00007
|
NM_000541.5(SAG):c.682G>A (p.Val228Met)
|
rs377019945
|
0.00007
|
NM_000666.3(ACY1):c.325A>G (p.Arg109Gly)
|
rs139537461
|
0.00007
|
NM_001080.3(ALDH5A1):c.612G>A (p.Trp204Ter)
|
rs118203982
|
0.00007
|
NM_001081.4(CUBN):c.10028C>T (p.Pro3343Leu)
|
rs150358307
|
0.00007
|
NM_001081.4(CUBN):c.1010C>T (p.Pro337Leu)
|
rs202153130
|
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.7095G>A (p.Trp2365Ter)
|
rs374538208
|
0.00007
|
NM_001081.4(CUBN):c.7990C>G (p.Gln2664Glu)
|
rs575118918
|
0.00007
|
NM_001081.4(CUBN):c.8891C>G (p.Ser2964Cys)
|
rs148348845
|
0.00007
|
NM_001127222.2(CACNA1A):c.6527-16C>T
|
rs752985059
|
0.00007
|
NM_001142800.2(EYS):c.1218G>T (p.Glu406Asp)
|
rs201331309
|
0.00007
|
NM_001142800.2(EYS):c.7171G>A (p.Gly2391Arg)
|
rs751746614
|
0.00007
|
NM_001243279.3(ACSF3):c.392C>T (p.Ala131Val)
|
rs148768970
|
0.00007
|
NM_001379270.1(CNGA1):c.1873C>T (p.Arg625Ter)
|
rs376959147
|
0.00007
|
NM_001876.4(CPT1A):c.525G>A (p.Pro175=)
|
rs371805329
|
0.00007
|
NM_002454.3(MTRR):c.1573C>T (p.Arg525Ter)
|
rs147277149
|
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_004453.4(ETFDH):c.51dup (p.Ala18fs)
|
rs796051964
|
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_015662.3(IFT172):c.2668G>A (p.Ala890Thr)
|
rs202216329
|
0.00007
|
NM_015662.3(IFT172):c.3711+17A>G
|
rs376488082
|
0.00007
|
NM_015662.3(IFT172):c.623A>G (p.Asn208Ser)
|
rs771817287
|
0.00007
|
NM_016335.6(PRODH):c.392G>A (p.Arg131Gln)
|
rs145456430
|
0.00007
|
NM_018368.4(LMBRD1):c.636+14G>T
|
rs376670737
|
0.00007
|
NM_052845.4(MMAB):c.14G>A (p.Gly5Asp)
|
rs769048646
|
0.00007
|
NM_052845.4(MMAB):c.521C>T (p.Ser174Leu)
|
rs140881518
|
0.00007
|
NM_054012.4(ASS1):c.535T>C (p.Trp179Arg)
|
rs121908646
|
0.00007
|
NM_144596.4(TTC8):c.308G>T (p.Gly103Val)
|
rs140710339
|
0.00007
|
NM_206933.4(USH2A):c.9922G>A (p.Gly3308Ser)
|
rs752811693
|
0.00007
|
NM_000019.4(ACAT1):c.455G>C (p.Gly152Ala)
|
rs762991875
|
0.00006
|
NM_000026.4(ADSL):c.925C>T (p.Arg309Cys)
|
rs376357524
|
0.00006
|
NM_000071.3(CBS):c.1315C>T (p.Arg439Trp)
|
rs780508029
|
0.00006
|
NM_000071.3(CBS):c.1411G>A (p.Gly471Arg)
|
rs201098477
|
0.00006
|
NM_000071.3(CBS):c.1472G>A (p.Arg491His)
|
rs747419767
|
0.00006
|
NM_000071.3(CBS):c.572C>T (p.Thr191Met)
|
rs121964973
|
0.00006
|
NM_000071.3(CBS):c.610G>A (p.Val204Met)
|
rs372679328
|
0.00006
|
NM_000108.5(DLD):c.1123G>A (p.Glu375Lys)
|
rs121964992
|
0.00006
|
NM_000137.4(FAH):c.1009G>A (p.Gly337Ser)
|
rs80338900
|
0.00006
|
NM_000137.4(FAH):c.1027G>T (p.Gly343Trp)
|
rs970505762
|
0.00006
|
NM_000137.4(FAH):c.782C>T (p.Pro261Leu)
|
rs80338898
|
0.00006
|
NM_000156.6(GAMT):c.133T>A (p.Trp45Arg)
|
rs886054247
|
0.00006
|
NM_000170.3(GLDC):c.1121G>A (p.Arg374Lys)
|
rs141065026
|
0.00006
|
NM_000187.4(HGD):c.365C>T (p.Ala122Val)
|
rs544956641
|
0.00006
|
NM_000187.4(HGD):c.786G>A (p.Pro262=)
|
rs747648606
|
0.00006
|
NM_000187.4(HGD):c.808G>A (p.Gly270Arg)
|
rs120074174
|
0.00006
|
NM_000191.3(HMGCL):c.109G>T (p.Glu37Ter)
|
rs763494292
|
0.00006
|
NM_000255.4(MMUT):c.1106G>A (p.Arg369His)
|
rs564069299
|
0.00006
|
NM_000255.4(MMUT):c.1956+17G>C
|
rs199735681
|
0.00006
|
NM_000255.4(MMUT):c.912-13G>A
|
rs542038574
|
0.00006
|
NM_000255.4(MMUT):c.912G>A (p.Arg304=)
|
rs201311681
|
0.00006
|
NM_000255.4(MMUT):c.947A>G (p.Tyr316Cys)
|
rs781474200
|
0.00006
|
NM_000276.4(OCRL):c.2138A>G (p.Lys713Arg)
|
rs148646884
|
0.00006
|
NM_000276.4(OCRL):c.284G>A (p.Arg95His)
|
rs770375201
|
0.00006
|
NM_000282.4(PCCA):c.229C>T (p.Arg77Trp)
|
rs141371306
|
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_000350.3(ABCA4):c.768G>T (p.Val256=)
|
rs62645944
|
0.00006
|
NM_000360.4(TH):c.104T>C (p.Ile35Thr)
|
rs747420332
|
0.00006
|
NM_000360.4(TH):c.13G>A (p.Asp5Asn)
|
rs777016570
|
0.00006
|
NM_000360.4(TH):c.550G>A (p.Asp184Asn)
|
rs139807727
|
0.00006
|
NM_000372.5(TYR):c.1A>G (p.Met1Val)
|
rs28940881
|
0.00006
|
NM_000372.5(TYR):c.230G>A (p.Arg77Gln)
|
rs61753185
|
0.00006
|
NM_000372.5(TYR):c.48C>T (p.Ser16=)
|
rs148710429
|
0.00006
|
NM_000372.5(TYR):c.892C>T (p.Arg298Trp)
|
rs200854796
|
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_000666.3(ACY1):c.1133G>A (p.Arg378Gln)
|
rs150480963
|
0.00006
|
NM_001003841.3(SLC6A19):c.1302G>A (p.Gly434=)
|
rs544896068
|
0.00006
|
NM_001003841.3(SLC6A19):c.1522G>A (p.Val508Met)
|
rs771770693
|
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_001081.4(CUBN):c.2120G>A (p.Arg707His)
|
rs763524933
|
0.00006
|
NM_001081.4(CUBN):c.5210-7C>G
|
rs760324864
|
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.8056T>C (p.Phe2686Leu)
|
rs755819982
|
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_001102564.3(IFT43):c.55-17T>C
|
rs200685248
|
0.00006
|
NM_001142800.2(EYS):c.3454G>A (p.Gly1152Arg)
|
rs371491059
|
0.00006
|
NM_001142800.2(EYS):c.7117G>A (p.Ala2373Thr)
|
rs372512515
|
0.00006
|
NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter)
|
rs137853190
|
0.00006
|
NM_001258392.3(CLPB):c.844A>G (p.Met282Val)
|
rs773028492
|
0.00006
|
NM_001370658.1(BTD):c.695A>G (p.Asp232Gly)
|
rs28934601
|
0.00006
|
NM_001378615.1(CC2D2A):c.932A>G (p.Asp311Gly)
|
rs375247004
|
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_001876.4(CPT1A):c.598A>G (p.Lys200Glu)
|
rs201425412
|
0.00006
|
NM_001958.5(EEF1A2):c.1182G>T (p.Leu394=)
|
rs199643016
|
0.00006
|
NM_002454.3(MTRR):c.1537G>A (p.Gly513Arg)
|
rs150411351
|
0.00006
|
NM_002860.4(ALDH18A1):c.1867G>A (p.Asp623Asn)
|
rs770815414
|
0.00006
|
NM_003042.4(SLC6A1):c.1436G>A (p.Arg479Gln)
|
rs771439149
|
0.00006
|
NM_003124.5(SPR):c.448A>G (p.Arg150Gly)
|
rs104893665
|
0.00006
|
NM_003611.3(OFD1):c.282C>T (p.Phe94=)
|
rs762169661
|
0.00006
|
NM_003611.3(OFD1):c.2992G>A (p.Glu998Lys)
|
rs772233258
|
0.00006
|
NM_003748.4(ALDH4A1):c.1082G>C (p.Trp361Ser)
|
rs763793413
|
0.00006
|
NM_003982.4(SLC7A7):c.1170G>C (p.Trp390Cys)
|
rs370847983
|
0.00006
|
NM_004453.4(ETFDH):c.1744A>C (p.Asn582His)
|
rs757842479
|
0.00006
|
NM_004937.3(CTNS):c.368T>G (p.Ile123Ser)
|
rs200313254
|
0.00006
|
NM_006269.2(RP1):c.4665A>G (p.Gly1555=)
|
rs929619376
|
0.00006
|
NM_006343.3(MERTK):c.472G>A (p.Ala158Thr)
|
rs780214104
|
0.00006
|
NM_006445.4(PRPF8):c.5794-3C>G
|
rs776617795
|
0.00006
|
NM_006623.4(PHGDH):c.1468G>A (p.Val490Met)
|
rs121907987
|
0.00006
|
NM_006721.4(ADK):c.66-23885T>A
|
rs370191448
|
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_014249.4(NR2E3):c.953C>T (p.Thr318Met)
|
rs755224888
|
0.00006
|
NM_014251.3(SLC25A13):c.1813C>T (p.Arg605Ter)
|
rs80338729
|
0.00006
|
NM_014252.4(SLC25A15):c.380C>T (p.Thr127Met)
|
rs201902280
|
0.00006
|
NM_014252.4(SLC25A15):c.823C>T (p.Arg275Ter)
|
rs202247807
|
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.658G>A (p.Val220Met)
|
rs751994982
|
0.00006
|
NM_014714.4(IFT140):c.1010-1G>A
|
rs770185023
|
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.1377G>A (p.Trp459Ter)
|
rs140039128
|
0.00006
|
NM_014714.4(IFT140):c.1401C>T (p.Phe467=)
|
rs368477699
|
0.00006
|
NM_014714.4(IFT140):c.2399+1G>T
|
rs376586707
|
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.3939C>A (p.Cys1313Ter)
|
rs1002670900
|
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_014714.4(IFT140):c.903-17G>T
|
rs377542255
|
0.00006
|
NM_015506.3(MMACHC):c.481C>T (p.Arg161Ter)
|
rs370596113
|
0.00006
|
NM_015662.3(IFT172):c.1006-10C>T
|
rs545781319
|
0.00006
|
NM_015662.3(IFT172):c.2522C>T (p.Ala841Val)
|
rs762431558
|
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_015662.3(IFT172):c.915A>G (p.Thr305=)
|
rs180855666
|
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_017739.4(POMGNT1):c.1826G>A (p.Arg609Gln)
|
rs371741722
|
0.00006
|
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg)
|
rs119103212
|
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.816+19G>A
|
rs147226856
|
0.00006
|
NM_022367.4(SEMA4A):c.2251G>A (p.Ala751Thr)
|
rs747089050
|
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.1797+13G>A
|
rs769739310
|
0.00006
|
NM_031885.5(BBS2):c.722A>C (p.Lys241Thr)
|
rs199918247
|
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_152419.3(HGSNAT):c.1687G>A (p.Val563Met)
|
rs761054871
|
0.00006
|
NM_172250.3(MMAA):c.92G>A (p.Ser31Asn)
|
rs142126209
|
0.00006
|
NM_177550.5(SLC13A5):c.1138C>T (p.Arg380Cys)
|
rs377270604
|
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_201253.3(CRB1):c.1471G>A (p.Asp491Asn)
|
rs937362854
|
0.00006
|
NM_201253.3(CRB1):c.584G>T (p.Cys195Phe)
|
rs764256655
|
0.00006
|
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg)
|
rs111033264
|
0.00006
|
NM_206933.4(USH2A):c.10999A>C (p.Thr3667Pro)
|
rs150822759
|
0.00006
|
NM_206933.4(USH2A):c.14191G>A (p.Gly4731Arg)
|
rs148674752
|
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.586C>T (p.Pro196Ser)
|
rs756041909
|
0.00006
|
NM_206933.4(USH2A):c.6724G>A (p.Glu2242Lys)
|
rs375278546
|
0.00006
|
NM_206933.4(USH2A):c.7679A>G (p.Asn2560Ser)
|
rs370155266
|
0.00006
|
NM_000017.4(ACADS):c.1157G>A (p.Arg386His)
|
rs766183395
|
0.00005
|
NM_000018.4(ACADVL):c.1754C>T (p.Ala585Val)
|
rs374729641
|
0.00005
|
NM_000018.4(ACADVL):c.779C>T (p.Thr260Met)
|
rs113994168
|
0.00005
|
NM_000071.3(CBS):c.1564G>A (p.Gly522Arg)
|
rs201916339
|
0.00005
|
NM_000156.6(GAMT):c.511C>G (p.Leu171Val)
|
rs770110177
|
0.00005
|
NM_000159.4(GCDH):c.1210G>A (p.Ala404Thr)
|
rs201509112
|
0.00005
|
NM_000182.5(HADHA):c.180+3A>G
|
rs781222705
|
0.00005
|
NM_000255.4(MMUT):c.1207C>T (p.Arg403Ter)
|
rs727504020
|
0.00005
|
NM_000255.4(MMUT):c.1630G>A (p.Gly544Arg)
|
rs78150750
|
0.00005
|
NM_000276.4(OCRL):c.2563G>A (p.Val855Ile)
|
rs376280495
|
0.00005
|
NM_000277.3(PAH):c.1162G>A (p.Val388Met)
|
rs62516101
|
0.00005
|
NM_000281.4(PCBD1):c.259G>T (p.Glu87Ter)
|
rs104894172
|
0.00005
|
NM_000281.4(PCBD1):c.91C>T (p.Arg31Cys)
|
rs11554325
|
0.00005
|
NM_000341.4(SLC3A1):c.1093C>T (p.Arg365Trp)
|
rs765828196
|
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.398G>A (p.Arg133His)
|
rs376881948
|
0.00005
|
NM_000387.6(SLC25A20):c.532C>T (p.Arg178Ter)
|
rs778220325
|
0.00005
|
NM_000440.3(PDE6A):c.2131G>A (p.Val711Ile)
|
rs764962408
|
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.118C>T (p.Arg40Cys)
|
rs72554307
|
0.00005
|
NM_000532.5(PCCB):c.683C>T (p.Pro228Leu)
|
rs374722096
|
0.00005
|
NM_000709.4(BCKDHA):c.1277C>T (p.Ser426Phe)
|
rs557058340
|
0.00005
|
NM_001001563.5(TIMM50):c.1033C>T (p.Arg345Cys)
|
rs137968278
|
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.2476G>A (p.Val826Ile)
|
rs141874896
|
0.00005
|
NM_001081.4(CUBN):c.4420C>T (p.Pro1474Ser)
|
rs201251467
|
0.00005
|
NM_001081.4(CUBN):c.4470C>T (p.Thr1490=)
|
rs768720429
|
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.1253A>G (p.Asn418Ser)
|
rs200542517
|
0.00005
|
NM_001142800.2(EYS):c.6473T>C (p.Leu2158Pro)
|
rs777735735
|
0.00005
|
NM_001142800.2(EYS):c.8107G>T (p.Glu2703Ter)
|
rs184722374
|
0.00005
|
NM_001243279.3(ACSF3):c.246del (p.Cys83fs)
|
rs772073893
|
0.00005
|
NM_001297.5(CNGB1):c.1699C>T (p.Arg567Trp)
|
rs556362158
|
0.00005
|
NM_001370658.1(BTD):c.383G>A (p.Arg128His)
|
rs367902696
|
0.00005
|
NM_001379270.1(CNGA1):c.1528C>T (p.Arg510Ter)
|
rs199584830
|
0.00005
|
NM_001605.3(AARS1):c.2186G>A (p.Arg729Gln)
|
rs142850278
|
0.00005
|
NM_003060.4(SLC22A5):c.1462C>T (p.Arg488Cys)
|
rs377216516
|
0.00005
|
NM_003060.4(SLC22A5):c.844C>T (p.Arg282Ter)
|
rs121908886
|
0.00005
|
NM_003060.4(SLC22A5):c.892C>T (p.Arg298Cys)
|
rs755114089
|
0.00005
|
NM_003611.3(OFD1):c.1347A>G (p.Ala449=)
|
rs151287373
|
0.00005
|
NM_003982.4(SLC7A7):c.1406C>T (p.Pro469Leu)
|
rs142739200
|
0.00005
|
NM_004453.4(ETFDH):c.295C>T (p.Arg99Cys)
|
rs371493232
|
0.00005
|
NM_004937.3(CTNS):c.225+19C>T
|
rs550960394
|
0.00005
|
NM_004937.3(CTNS):c.364G>A (p.Ala122Thr)
|
rs187396540
|
0.00005
|
NM_005050.4(ABCD4):c.364C>T (p.Leu122Phe)
|
rs141808601
|
0.00005
|
NM_006623.4(PHGDH):c.946G>A (p.Val316Met)
|
rs146398308
|
0.00005
|
NM_014249.4(NR2E3):c.664G>A (p.Glu222Lys)
|
rs371945959
|
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.3660+14G>A
|
rs571494292
|
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_014714.4(IFT140):c.594G>A (p.Gly198=)
|
rs754896534
|
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.3643G>A (p.Asp1215Asn)
|
rs777398021
|
0.00005
|
NM_015662.3(IFT172):c.4622A>G (p.Tyr1541Cys)
|
rs138003766
|
0.00005
|
NM_016335.6(PRODH):c.1181C>T (p.Thr394Met)
|
rs777930066
|
0.00005
|
NM_020166.5(MCCC1):c.1114C>T (p.Gln372Ter)
|
rs544349961
|
0.00005
|
NM_024741.3(ZNF408):c.1928C>T (p.Ala643Val)
|
rs757827254
|
0.00005
|
NM_031885.5(BBS2):c.1909A>T (p.Met637Leu)
|
rs967941621
|
0.00005
|
NM_054012.4(ASS1):c.787G>A (p.Val263Met)
|
rs192838388
|
0.00005
|
NM_144596.4(TTC8):c.1078G>A (p.Gly360Ser)
|
rs771231605
|
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_178857.6(RP1L1):c.1189C>T (p.Arg397Ter)
|
rs371886218
|
0.00005
|
NM_206933.4(USH2A):c.14489C>G (p.Ser4830Ter)
|
rs184351619
|
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_000016.6(ACADM):c.50G>A (p.Arg17His)
|
rs17848070
|
0.00004
|
NM_000017.4(ACADS):c.1138C>T (p.Arg380Trp)
|
rs28940875
|
0.00004
|
NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser)
|
rs199524907
|
0.00004
|
NM_000019.4(ACAT1):c.637G>A (p.Ala213Thr)
|
rs772087249
|
0.00004
|
NM_000026.4(ADSL):c.734G>A (p.Arg245Gln)
|
rs374047157
|
0.00004
|
NM_000048.4(ASL):c.649C>T (p.Arg217Ter)
|
rs369879957
|
0.00004
|
NM_000071.3(CBS):c.1499C>T (p.Ser500Leu)
|
rs755106884
|
0.00004
|
NM_000071.3(CBS):c.341C>T (p.Ala114Val)
|
rs121964964
|
0.00004
|
NM_000126.4(ETFA):c.170G>C (p.Gly57Ala)
|
rs146299082
|
0.00004
|
NM_000159.4(GCDH):c.1093G>A (p.Glu365Lys)
|
rs121434370
|
0.00004
|
NM_000170.3(GLDC):c.869C>T (p.Ala290Val)
|
rs534936420
|
0.00004
|
NM_000182.5(HADHA):c.1753G>A (p.Ala585Thr)
|
rs753722938
|
0.00004
|
NM_000182.5(HADHA):c.919-2A>G
|
rs200017313
|
0.00004
|
NM_000187.4(HGD):c.1027A>C (p.Met343Leu)
|
rs755078457
|
0.00004
|
NM_000187.4(HGD):c.16-1G>A
|
rs397515347
|
0.00004
|
NM_000187.4(HGD):c.359G>T (p.Cys120Phe)
|
rs752153829
|
0.00004
|
NM_000187.4(HGD):c.6T>A (p.Ala2=)
|
rs1308413187
|
0.00004
|
NM_000187.4(HGD):c.807C>T (p.His269=)
|
rs758567130
|
0.00004
|
NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln)
|
rs121964997
|
0.00004
|
NM_000191.3(HMGCL):c.698A>G (p.His233Arg)
|
rs727503963
|
0.00004
|
NM_000191.3(HMGCL):c.950A>G (p.Lys317Arg)
|
rs777758512
|
0.00004
|
NM_000254.3(MTR):c.1542A>T (p.Arg514Ser)
|
rs200479834
|
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_000255.4(MMUT):c.278G>A (p.Arg93His)
|
rs121918251
|
0.00004
|
NM_000255.4(MMUT):c.280G>A (p.Gly94Arg)
|
rs727504022
|
0.00004
|
NM_000255.4(MMUT):c.572C>A (p.Ala191Glu)
|
rs760782399
|
0.00004
|
NM_000255.4(MMUT):c.756C>T (p.His252=)
|
rs376716145
|
0.00004
|
NM_000255.4(MMUT):c.850G>T (p.Gly284Ter)
|
rs761477436
|
0.00004
|
NM_000276.4(OCRL):c.375G>T (p.Glu125Asp)
|
rs773022942
|
0.00004
|
NM_000277.3(PAH):c.1223G>A (p.Arg408Gln)
|
rs5030859
|
0.00004
|
NM_000277.3(PAH):c.261C>A (p.Ser87Arg)
|
rs62516151
|
0.00004
|
NM_000277.3(PAH):c.331C>T (p.Arg111Ter)
|
rs76296470
|
0.00004
|
NM_000277.3(PAH):c.964G>A (p.Ala322Thr)
|
rs62514957
|
0.00004
|
NM_000281.4(PCBD1):c.262C>T (p.Arg88Trp)
|
rs564505637
|
0.00004
|
NM_000283.4(PDE6B):c.2150G>A (p.Cys717Tyr)
|
rs142936195
|
0.00004
|
NM_000329.3(RPE65):c.845A>G (p.Asn282Ser)
|
rs144612129
|
0.00004
|
NM_000341.4(SLC3A1):c.1870A>G (p.Thr624Ala)
|
rs781253461
|
0.00004
|
NM_000350.3(ABCA4):c.320G>A (p.Arg107Gln)
|
rs759799179
|
0.00004
|
NM_000350.3(ABCA4):c.766G>T (p.Val256Leu)
|
rs374851665
|
0.00004
|
NM_000360.4(TH):c.653C>T (p.Pro218Leu)
|
rs377729019
|
0.00004
|
NM_000360.4(TH):c.794G>A (p.Arg265Gln)
|
rs199961079
|
0.00004
|
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn)
|
rs121908011
|
0.00004
|
NM_000372.5(TYR):c.1199G>T (p.Trp400Leu)
|
rs62645916
|
0.00004
|
NM_000372.5(TYR):c.832C>T (p.Arg278Ter)
|
rs62645904
|
0.00004
|
NM_000387.6(SLC25A20):c.-80G>C
|
rs551279923
|
0.00004
|
NM_000481.4(AMT):c.283G>A (p.Val95Met)
|
rs183396486
|
0.00004
|
NM_000481.4(AMT):c.959G>A (p.Arg320His)
|
rs121964985
|
0.00004
|
NM_000485.3(APRT):c.175G>A (p.Asp59Asn)
|
rs768268700
|
0.00004
|
NM_000485.3(APRT):c.459C>T (p.Cys153=)
|
rs375131814
|
0.00004
|
NM_001003841.3(SLC6A19):c.1284G>C (p.Gly428=)
|
rs750242948
|
0.00004
|
NM_001003841.3(SLC6A19):c.1596C>T (p.Val532=)
|
rs748088574
|
0.00004
|
NM_001003841.3(SLC6A19):c.1701+18C>T
|
rs112626901
|
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.718C>T (p.Arg240Ter)
|
rs121434347
|
0.00004
|
NM_001003841.3(SLC6A19):c.887+9G>A
|
rs762018842
|
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.2203G>A (p.Val735Ile)
|
rs370770104
|
0.00004
|
NM_001081.4(CUBN):c.3672+20C>T
|
rs762191994
|
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.5964C>T (p.Pro1988=)
|
rs539618523
|
0.00004
|
NM_001081.4(CUBN):c.6462+19C>G
|
rs372356491
|
0.00004
|
NM_001081.4(CUBN):c.6822-6C>T
|
rs762758607
|
0.00004
|
NM_001081.4(CUBN):c.7976T>C (p.Val2659Ala)
|
rs1007248288
|
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_001102564.3(IFT43):c.570G>A (p.Glu190=)
|
rs201394224
|
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.7441G>A (p.Gly2481Arg)
|
rs765523382
|
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.2545C>T (p.Arg849Cys)
|
rs369347845
|
0.00004
|
NM_001142800.2(EYS):c.3878-2A>G
|
rs752930400
|
0.00004
|
NM_001142800.2(EYS):c.7095T>G (p.Tyr2365Ter)
|
rs398123575
|
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.8207C>T (p.Ala2736Val)
|
rs374200609
|
0.00004
|
NM_001164665.2(KIAA1549):c.1925C>T (p.Ser642Leu)
|
rs563536889
|
0.00004
|
NM_001164665.2(KIAA1549):c.4125G>A (p.Ala1375=)
|
rs377023001
|
0.00004
|
NM_001201543.2(FAM161A):c.1003C>T (p.Arg335Ter)
|
rs777678022
|
0.00004
|
NM_001201543.2(FAM161A):c.1759G>A (p.Glu587Lys)
|
rs868226745
|
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.1703C>T (p.Ala568Val)
|
rs142633119
|
0.00004
|
NM_001243279.3(ACSF3):c.546G>A (p.Pro182=)
|
rs755163107
|
0.00004
|
NM_001243279.3(ACSF3):c.781G>T (p.Gly261Ter)
|
rs746877433
|
0.00004
|
NM_001271.4(CHD2):c.4061G>A (p.Arg1354Lys)
|
rs370160870
|
0.00004
|
NM_001271.4(CHD2):c.5069G>A (p.Arg1690Gln)
|
rs564787975
|
0.00004
|
NM_001352514.2(HLCS):c.2434C>T (p.Arg812Ter)
|
rs146448211
|
0.00004
|
NM_001367823.1(ARHGEF18):c.1537C>T (p.Arg513Cys)
|
rs140149608
|
0.00004
|
NM_001370658.1(BTD):c.49G>A (p.Val17Met)
|
rs772369148
|
0.00004
|
NM_001370658.1(BTD):c.873del (p.Ser291fs)
|
rs397514395
|
0.00004
|
NM_001378615.1(CC2D2A):c.2803C>T (p.Arg935Ter)
|
rs563610095
|
0.00004
|
NM_001378615.1(CC2D2A):c.298A>C (p.Met100Leu)
|
rs370014549
|
0.00004
|
NM_001379270.1(CNGA1):c.1499A>G (p.Asp500Gly)
|
rs372770176
|
0.00004
|
NM_001379270.1(CNGA1):c.253del (p.Leu85fs)
|
rs749012133
|
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.979-19G>T
|
rs575171738
|
0.00004
|
NM_001605.3(AARS1):c.959G>A (p.Arg320His)
|
rs557600847
|
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_001918.5(DBT):c.75_76del (p.Cys26fs)
|
rs768832921
|
0.00004
|
NM_002225.5(IVD):c.1174C>T (p.Arg392Cys)
|
rs371427844
|
0.00004
|
NM_003060.4(SLC22A5):c.1319C>T (p.Thr440Met)
|
rs72552732
|
0.00004
|
NM_003060.4(SLC22A5):c.1587-15T>A
|
rs762259659
|
0.00004
|
NM_003060.4(SLC22A5):c.680G>A (p.Arg227His)
|
rs185551386
|
0.00004
|
NM_003060.4(SLC22A5):c.769C>T (p.Arg257Trp)
|
rs386134203
|
0.00004
|
NM_003611.3(OFD1):c.1490A>C (p.His497Pro)
|
rs772474080
|
0.00004
|
NM_003611.3(OFD1):c.494C>T (p.Ser165Leu)
|
rs756793358
|
0.00004
|
NM_003982.4(SLC7A7):c.1229G>A (p.Arg410Gln)
|
rs368317701
|
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.1362G>C (p.Leu454=)
|
rs143853134
|
0.00004
|
NM_003982.4(SLC7A7):c.241C>T (p.Leu81Phe)
|
rs371860097
|
0.00004
|
NM_003982.4(SLC7A7):c.377del (p.Ile126fs)
|
rs774080549
|
0.00004
|
NM_003982.4(SLC7A7):c.591G>T (p.Ala197=)
|
rs750720946
|
0.00004
|
NM_003982.4(SLC7A7):c.625+1G>A
|
rs386833822
|
0.00004
|
NM_004183.4(BEST1):c.598C>T (p.Arg200Ter)
|
rs121918286
|
0.00004
|
NM_004453.4(ETFDH):c.1234G>T (p.Glu412Ter)
|
rs398124151
|
0.00004
|
NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr)
|
rs121964954
|
0.00004
|
NM_004453.4(ETFDH):c.770A>G (p.Tyr257Cys)
|
rs780015493
|
0.00004
|
NM_004937.3(CTNS):c.1035C>T (p.Phe345=)
|
rs149007536
|
0.00004
|
NM_004937.3(CTNS):c.1038C>T (p.Asp346=)
|
rs771450572
|
0.00004
|
NM_004937.3(CTNS):c.407T>G (p.Val136Gly)
|
rs764372178
|
0.00004
|
NM_004937.3(CTNS):c.473T>C (p.Leu158Pro)
|
rs113994206
|
0.00004
|
NM_004937.3(CTNS):c.562-16C>T
|
rs776712980
|
0.00004
|
NM_004937.3(CTNS):c.589G>A (p.Gly197Arg)
|
rs113994207
|
0.00004
|
NM_005050.4(ABCD4):c.362G>A (p.Arg121His)
|
rs201744101
|
0.00004
|
NM_005334.3(HCFC1):c.4574C>T (p.Thr1525Ile)
|
rs782370174
|
0.00004
|
NM_005957.5(MTHFR):c.1320G>A (p.Ser440=)
|
rs367585605
|
0.00004
|
NM_005957.5(MTHFR):c.155G>A (p.Arg52Gln)
|
rs754980119
|
0.00004
|
NM_006017.3(PROM1):c.1632G>T (p.Gly544=)
|
rs753308387
|
0.00004
|
NM_006915.3(RP2):c.286G>A (p.Val96Met)
|
rs782229330
|
0.00004
|
NM_012463.4(ATP6V0A2):c.1565C>T (p.Pro522Leu)
|
rs371908109
|
0.00004
|
NM_014014.5(SNRNP200):c.4377C>T (p.Ile1459=)
|
rs191438128
|
0.00004
|
NM_014270.5(SLC7A9):c.997C>T (p.Arg333Trp)
|
rs121908484
|
0.00004
|
NM_014336.5(AIPL1):c.1112C>G (p.Ala371Gly)
|
rs745586461
|
0.00004
|
NM_014714.4(IFT140):c.1030G>A (p.Asp344Asn)
|
rs201871050
|
0.00004
|
NM_014714.4(IFT140):c.1653-4G>A
|
rs750603473
|
0.00004
|
NM_014714.4(IFT140):c.1726C>T (p.Arg576Trp)
|
rs757678246
|
0.00004
|
NM_014714.4(IFT140):c.189G>A (p.Arg63=)
|
rs759832443
|
0.00004
|
NM_014714.4(IFT140):c.2119C>T (p.Leu707Phe)
|
rs141172132
|
0.00004
|
NM_014714.4(IFT140):c.2400-13C>T
|
rs558510749
|
0.00004
|
NM_014714.4(IFT140):c.2433C>T (p.Cys811=)
|
rs756784917
|
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.291G>A (p.Thr97=)
|
rs774795976
|
0.00004
|
NM_014714.4(IFT140):c.3156C>T (p.Asp1052=)
|
rs528573485
|
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.811-10C>T
|
rs781747985
|
0.00004
|
NM_014714.4(IFT140):c.811-19C>T
|
rs568239635
|
0.00004
|
NM_014714.4(IFT140):c.903-5T>G
|
rs900599017
|
0.00004
|
NM_015506.3(MMACHC):c.296T>C (p.Ile99Thr)
|
rs370229341
|
0.00004
|
NM_015506.3(MMACHC):c.402T>C (p.Asp134=)
|
rs774024065
|
0.00004
|
NM_015506.3(MMACHC):c.700T>C (p.Leu234=)
|
rs199964843
|
0.00004
|
NM_015506.3(MMACHC):c.88T>C (p.Trp30Arg)
|
rs745419717
|
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.2818C>T (p.Arg940Trp)
|
rs760316903
|
0.00004
|
NM_015662.3(IFT172):c.2857C>T (p.Arg953Cys)
|
rs762645007
|
0.00004
|
NM_015662.3(IFT172):c.3268G>A (p.Val1090Met)
|
rs76076247
|
0.00004
|
NM_015662.3(IFT172):c.3549T>C (p.Asp1183=)
|
rs566100277
|
0.00004
|
NM_015662.3(IFT172):c.3713A>C (p.Glu1238Ala)
|
rs553301895
|
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.5104C>T (p.Arg1702Trp)
|
rs560831644
|
0.00004
|
NM_015662.3(IFT172):c.5179T>C (p.Cys1727Arg)
|
rs149614625
|
0.00004
|
NM_015662.3(IFT172):c.926G>C (p.Gly309Ala)
|
rs749612277
|
0.00004
|
NM_016335.6(PRODH):c.518-11C>T
|
rs112526442
|
0.00004
|
NM_016373.4(WWOX):c.926G>A (p.Arg309His)
|
rs370792938
|
0.00004
|
NM_017739.4(POMGNT1):c.1469G>A (p.Cys490Tyr)
|
rs267606960
|
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_022132.5(MCCC2):c.1674C>T (p.Phe558=)
|
rs768354167
|
0.00004
|
NM_022132.5(MCCC2):c.518C>T (p.Ser173Leu)
|
rs752866557
|
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.534+1G>T
|
rs773862084
|
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_054012.4(ASS1):c.1087C>T (p.Arg363Trp)
|
rs121908640
|
0.00004
|
NM_054012.4(ASS1):c.533C>T (p.Pro178Leu)
|
rs768846877
|
0.00004
|
NM_144596.4(TTC8):c.800T>A (p.Val267Asp)
|
rs770333148
|
0.00004
|
NM_152419.3(HGSNAT):c.995A>G (p.Asn332Ser)
|
rs374892647
|
0.00004
|
NM_153006.3(NAGS):c.1292C>T (p.Thr431Ile)
|
rs761558985
|
0.00004
|
NM_177550.5(SLC13A5):c.997C>T (p.Arg333Ter)
|
rs773770609
|
0.00004
|
NM_201253.3(CRB1):c.2231G>A (p.Arg744Gln)
|
rs530046423
|
0.00004
|
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys)
|
rs62635654
|
0.00004
|
NM_201253.3(CRB1):c.3202A>G (p.Thr1068Ala)
|
rs886045787
|
0.00004
|
NM_206933.4(USH2A):c.10904C>A (p.Thr3635Asn)
|
rs727505166
|
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.12344G>A (p.Arg4115His)
|
rs775075094
|
0.00004
|
NM_206933.4(USH2A):c.15281C>T (p.Pro5094Leu)
|
rs727503714
|
0.00004
|
NM_206933.4(USH2A):c.2167+15A>G
|
rs779599960
|
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.5410A>G (p.Ile1804Val)
|
rs201804063
|
0.00004
|
NM_206933.4(USH2A):c.7951A>G (p.Asn2651Asp)
|
rs141134147
|
0.00004
|
NM_000016.6(ACADM):c.157C>T (p.Arg53Cys)
|
rs398123072
|
0.00003
|
NM_000018.4(ACADVL):c.1182+1G>A
|
rs113690956
|
0.00003
|
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln)
|
rs751995154
|
0.00003
|
NM_000018.4(ACADVL):c.1837C>T (p.Arg613Trp)
|
rs118204014
|
0.00003
|
NM_000019.4(ACAT1):c.951C>T (p.Asp317=)
|
rs747714452
|
0.00003
|
NM_000026.4(ADSL):c.224A>G (p.Lys75Arg)
|
rs772345709
|
0.00003
|
NM_000026.4(ADSL):c.40C>T (p.Arg14Cys)
|
rs766465184
|
0.00003
|
NM_000045.4(ARG1):c.383A>G (p.Asp128Gly)
|
rs140549609
|
0.00003
|
NM_000048.4(ASL):c.1135C>T (p.Arg379Cys)
|
rs28940287
|
0.00003
|
NM_000071.3(CBS):c.1009A>G (p.Met337Val)
|
rs372822486
|
0.00003
|
NM_000071.3(CBS):c.1039G>A (p.Gly347Ser)
|
rs771298943
|
0.00003
|
NM_000071.3(CBS):c.1135C>T (p.Arg379Trp)
|
rs769080151
|
0.00003
|
NM_000071.3(CBS):c.1146-7C>T
|
rs376749931
|
0.00003
|
NM_000071.3(CBS):c.1484C>T (p.Thr495Met)
|
rs772344567
|
0.00003
|
NM_000071.3(CBS):c.1594G>A (p.Gly532Arg)
|
rs748953468
|
0.00003
|
NM_000071.3(CBS):c.791T>C (p.Ile264Thr)
|
rs760212248
|
0.00003
|
NM_000126.4(ETFA):c.197A>G (p.Asp66Gly)
|
rs201888260
|
0.00003
|
NM_000156.6(GAMT):c.522G>A (p.Trp174Ter)
|
rs370421531
|
0.00003
|
NM_000159.4(GCDH):c.1244-2A>C
|
rs199999619
|
0.00003
|
NM_000159.4(GCDH):c.769C>T (p.Arg257Trp)
|
rs766518430
|
0.00003
|
NM_000170.3(GLDC):c.2369G>A (p.Arg790Gln)
|
rs187209250
|
0.00003
|
NM_000170.3(GLDC):c.2665+1G>C
|
rs149070244
|
0.00003
|
NM_000170.3(GLDC):c.2714T>G (p.Val905Gly)
|
rs188269735
|
0.00003
|
NM_000187.4(HGD):c.477G>A (p.Gln159=)
|
rs1351109217
|
0.00003
|
NM_000187.4(HGD):c.688C>T (p.Pro230Ser)
|
rs28942100
|
0.00003
|
NM_000187.4(HGD):c.920G>A (p.Arg307His)
|
rs752719362
|
0.00003
|
NM_000191.3(HMGCL):c.651G>T (p.Met217Ile)
|
rs746968587
|
0.00003
|
NM_000255.4(MMUT):c.123A>G (p.Pro41=)
|
rs753769272
|
0.00003
|
NM_000255.4(MMUT):c.1399C>T (p.Arg467Ter)
|
rs774159791
|
0.00003
|
NM_000255.4(MMUT):c.1889G>A (p.Gly630Glu)
|
rs143023066
|
0.00003
|
NM_000255.4(MMUT):c.655A>T (p.Asn219Tyr)
|
rs121918256
|
0.00003
|
NM_000255.4(MMUT):c.91C>T (p.Arg31Ter)
|
rs398123278
|
0.00003
|
NM_000273.3(GPR143):c.191C>T (p.Pro64Leu)
|
rs936878316
|
0.00003
|
NM_000274.4(OAT):c.314T>C (p.Val105Ala)
|
rs199957428
|
0.00003
|
NM_000274.4(OAT):c.596C>A (p.Pro199Gln)
|
rs267606925
|
0.00003
|
NM_000276.4(OCRL):c.40A>G (p.Thr14Ala)
|
rs371099243
|
0.00003
|
NM_000277.3(PAH):c.136G>A (p.Gly46Ser)
|
rs74603784
|
0.00003
|
NM_000277.3(PAH):c.2T>C (p.Met1Thr)
|
rs62508575
|
0.00003
|
NM_000277.3(PAH):c.311C>A (p.Ala104Asp)
|
rs62642929
|
0.00003
|
NM_000277.3(PAH):c.464G>A (p.Arg155His)
|
rs199475663
|
0.00003
|
NM_000277.3(PAH):c.526C>T (p.Arg176Ter)
|
rs199475575
|
0.00003
|
NM_000277.3(PAH):c.890G>A (p.Arg297His)
|
rs62642939
|
0.00003
|
NM_000277.3(PAH):c.916A>G (p.Ile306Val)
|
rs62642934
|
0.00003
|
NM_000281.4(PCBD1):c.228G>A (p.Thr76=)
|
rs778445183
|
0.00003
|
NM_000282.4(PCCA):c.803G>A (p.Arg268His)
|
rs368047060
|
0.00003
|
NM_000283.4(PDE6B):c.1954C>T (p.Gln652Ter)
|
rs373037737
|
0.00003
|
NM_000329.3(RPE65):c.118G>A (p.Gly40Ser)
|
rs61751281
|
0.00003
|
NM_000329.3(RPE65):c.224G>A (p.Gly75Glu)
|
rs201062742
|
0.00003
|
NM_000341.4(SLC3A1):c.1334T>C (p.Ile445Thr)
|
rs187962930
|
0.00003
|
NM_000341.4(SLC3A1):c.1826A>G (p.Asn609Ser)
|
rs200592320
|
0.00003
|
NM_000350.3(ABCA4):c.370C>T (p.Arg124Cys)
|
rs138359497
|
0.00003
|
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp)
|
rs61751404
|
0.00003
|
NM_000350.3(ABCA4):c.5087G>A (p.Ser1696Asn)
|
rs61750564
|
0.00003
|
NM_000360.4(TH):c.1297G>A (p.Val433Met)
|
rs772641972
|
0.00003
|
NM_000372.5(TYR):c.346C>T (p.Arg116Ter)
|
rs61753256
|
0.00003
|
NM_000372.5(TYR):c.875C>T (p.Thr292Met)
|
rs61754372
|
0.00003
|
NM_000481.4(AMT):c.1082C>T (p.Ala361Val)
|
rs757293245
|
0.00003
|
NM_000485.3(APRT):c.460G>A (p.Val154Met)
|
rs141669365
|
0.00003
|
NM_000709.4(BCKDHA):c.370C>T (p.Arg124Trp)
|
rs398123499
|
0.00003
|
NM_000709.4(BCKDHA):c.946C>T (p.Arg316Trp)
|
rs758442329
|
0.00003
|
NM_001003841.3(SLC6A19):c.1173+20C>T
|
rs982302856
|
0.00003
|
NM_001003841.3(SLC6A19):c.1554C>T (p.Ile518=)
|
rs143414604
|
0.00003
|
NM_001003841.3(SLC6A19):c.292C>T (p.Arg98Trp)
|
rs777046481
|
0.00003
|
NM_001003841.3(SLC6A19):c.774+1G>A
|
rs554777392
|
0.00003
|
NM_001080.3(ALDH5A1):c.1480G>A (p.Glu494Lys)
|
rs374232934
|
0.00003
|
NM_001080.3(ALDH5A1):c.1606T>C (p.Ter536Gln)
|
rs201484501
|
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.5355G>A (p.Leu1785=)
|
rs199509575
|
0.00003
|
NM_001081.4(CUBN):c.6088C>T (p.Arg2030Ter)
|
rs374417889
|
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_001102564.3(IFT43):c.501C>A (p.Val167=)
|
rs1248117843
|
0.00003
|
NM_001127222.2(CACNA1A):c.1534G>A (p.Glu512Lys)
|
rs375210532
|
0.00003
|
NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met)
|
rs563345694
|
0.00003
|
NM_001127222.2(CACNA1A):c.6644A>C (p.His2215Pro)
|
rs1233829101
|
0.00003
|
NM_001142800.2(EYS):c.1314A>G (p.Pro438=)
|
rs375043207
|
0.00003
|
NM_001142800.2(EYS):c.1483G>C (p.Gly495Arg)
|
rs771221172
|
0.00003
|
NM_001142800.2(EYS):c.6714del (p.Ile2239fs)
|
rs752953889
|
0.00003
|
NM_001142800.2(EYS):c.8411dup (p.Thr2805fs)
|
rs763028732
|
0.00003
|
NM_001243279.3(ACSF3):c.953G>A (p.Arg318His)
|
rs200352879
|
0.00003
|
NM_001258392.3(CLPB):c.1159C>T (p.Arg387Ter)
|
rs200203460
|
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.1210-2A>G
|
rs373232101
|
0.00003
|
NM_001297.5(CNGB1):c.2501G>T (p.Arg834Leu)
|
rs761295014
|
0.00003
|
NM_001352514.2(HLCS):c.1960+5G>A
|
rs753887925
|
0.00003
|
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp)
|
rs119103229
|
0.00003
|
NM_001352514.2(HLCS):c.2584G>A (p.Asp862Asn)
|
rs140014588
|
0.00003
|
NM_001370658.1(BTD):c.377C>G (p.Pro126Arg)
|
rs371116229
|
0.00003
|
NM_001370658.1(BTD):c.535G>A (p.Val179Met)
|
rs397514375
|
0.00003
|
NM_001482.3(GATM):c.279C>G (p.Ile93Met)
|
rs192378417
|
0.00003
|
NM_001605.3(AARS1):c.1969A>G (p.Asn657Asp)
|
rs749039663
|
0.00003
|
NM_001698.3(AUH):c.589C>T (p.Arg197Ter)
|
rs121434636
|
0.00003
|
NM_001876.4(CPT1A):c.266G>A (p.Arg89Gln)
|
rs751235722
|
0.00003
|
NM_002225.5(IVD):c.1175G>A (p.Arg392His)
|
rs982218848
|
0.00003
|
NM_002225.5(IVD):c.334A>T (p.Met112Leu)
|
rs772021923
|
0.00003
|
NM_003060.4(SLC22A5):c.130G>A (p.Ala44Thr)
|
rs1266620798
|
0.00003
|
NM_003060.4(SLC22A5):c.377C>A (p.Ser126Tyr)
|
rs568906114
|
0.00003
|
NM_003060.4(SLC22A5):c.424G>T (p.Ala142Ser)
|
rs151231558
|
0.00003
|
NM_003124.5(SPR):c.16G>C (p.Gly6Arg)
|
rs769415486
|
0.00003
|
NM_003611.3(OFD1):c.1694T>C (p.Val565Ala)
|
rs529916753
|
0.00003
|
NM_003611.3(OFD1):c.2482T>G (p.Phe828Val)
|
rs779051357
|
0.00003
|
NM_003611.3(OFD1):c.324G>A (p.Met108Ile)
|
rs763219658
|
0.00003
|
NM_003611.3(OFD1):c.688A>G (p.Ile230Val)
|
rs770131832
|
0.00003
|
NM_003982.4(SLC7A7):c.1123G>A (p.Val375Met)
|
rs769093980
|
0.00003
|
NM_003982.4(SLC7A7):c.1402C>T (p.Arg468Ter)
|
rs386833807
|
0.00003
|
NM_003982.4(SLC7A7):c.595A>G (p.Ile199Val)
|
rs779266344
|
0.00003
|
NM_003982.4(SLC7A7):c.862A>C (p.Arg288=)
|
rs143240690
|
0.00003
|
NM_003982.4(SLC7A7):c.894+6G>A
|
rs373812507
|
0.00003
|
NM_004172.5(SLC1A3):c.510C>G (p.Phe170Leu)
|
rs774420370
|
0.00003
|
NM_004453.4(ETFDH):c.1001T>C (p.Leu334Pro)
|
rs377686388
|
0.00003
|
NM_004453.4(ETFDH):c.1366C>T (p.Pro456Ser)
|
rs751821289
|
0.00003
|
NM_004453.4(ETFDH):c.1773_1774del (p.Thr591_Cys592insTer)
|
rs767795266
|
0.00003
|
NM_004937.3(CTNS):c.831G>T (p.Thr277=)
|
rs533147998
|
0.00003
|
NM_005334.3(HCFC1):c.5206C>T (p.Leu1736=)
|
rs782368009
|
0.00003
|
NM_005957.5(MTHFR):c.151C>T (p.Arg51Trp)
|
rs764131110
|
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_006269.2(RP1):c.2716G>A (p.Ala906Thr)
|
rs201538234
|
0.00003
|
NM_006269.2(RP1):c.5002A>G (p.Arg1668Gly)
|
rs375004458
|
0.00003
|
NM_006343.3(MERTK):c.2785_2786dup (p.Ile930fs)
|
rs773105686
|
0.00003
|
NM_006445.4(PRPF8):c.654-5C>T
|
rs143954665
|
0.00003
|
NM_006915.3(RP2):c.49C>T (p.Pro17Ser)
|
rs782103396
|
0.00003
|
NM_012463.4(ATP6V0A2):c.1018C>T (p.Arg340Trp)
|
rs781305219
|
0.00003
|
NM_013247.5(HTRA2):c.618C>G (p.Val206=)
|
rs186272815
|
0.00003
|
NM_014003.4(DHX38):c.2831G>A (p.Arg944Gln)
|
rs543465915
|
0.00003
|
NM_014249.4(NR2E3):c.1001G>A (p.Arg334Gln)
|
rs374483122
|
0.00003
|
NM_014249.4(NR2E3):c.142C>T (p.Arg48Cys)
|
rs763706390
|
0.00003
|
NM_014249.4(NR2E3):c.998C>T (p.Thr333Met)
|
rs554638593
|
0.00003
|
NM_014251.3(SLC25A13):c.127C>T (p.Arg43Ter)
|
rs780525233
|
0.00003
|
NM_014252.4(SLC25A15):c.677C>T (p.Ala226Val)
|
rs776523157
|
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_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.1901+1G>T
|
rs375910993
|
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.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.4383C>T (p.Asp1461=)
|
rs768372140
|
0.00003
|
NM_014714.4(IFT140):c.508G>A (p.Ala170Thr)
|
rs145551546
|
0.00003
|
NM_015506.3(MMACHC):c.495G>A (p.Leu165=)
|
rs761111018
|
0.00003
|
NM_015506.3(MMACHC):c.666C>A (p.Tyr222Ter)
|
rs201266016
|
0.00003
|
NM_015506.3(MMACHC):c.82-10T>C
|
rs778416032
|
0.00003
|
NM_015662.3(IFT172):c.1893G>A (p.Leu631=)
|
rs774534899
|
0.00003
|
NM_015662.3(IFT172):c.2388A>G (p.Thr796=)
|
rs750450341
|
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.3030C>A (p.His1010Gln)
|
rs201607202
|
0.00003
|
NM_015662.3(IFT172):c.357A>G (p.Gln119=)
|
rs749934202
|
0.00003
|
NM_015662.3(IFT172):c.4161-16C>T
|
rs573518240
|
0.00003
|
NM_015662.3(IFT172):c.456G>A (p.Glu152=)
|
rs771141815
|
0.00003
|
NM_015662.3(IFT172):c.707G>A (p.Arg236His)
|
rs768290728
|
0.00003
|
NM_015662.3(IFT172):c.986C>T (p.Thr329Met)
|
rs568736482
|
0.00003
|
NM_016335.6(PRODH):c.391C>T (p.Arg131Trp)
|
rs753625227
|
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_017739.4(POMGNT1):c.1769G>A (p.Trp590Ter)
|
rs386834019
|
0.00003
|
NM_017739.4(POMGNT1):c.319C>A (p.Arg107Ser)
|
rs375420073
|
0.00003
|
NM_020166.5(MCCC1):c.1526del (p.Cys509fs)
|
rs727504002
|
0.00003
|
NM_020166.5(MCCC1):c.1715G>C (p.Gly572Ala)
|
rs182830931
|
0.00003
|
NM_020166.5(MCCC1):c.1930G>T (p.Glu644Ter)
|
rs905321122
|
0.00003
|
NM_020166.5(MCCC1):c.2089G>A (p.Val697Met)
|
rs776138490
|
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_022132.5(MCCC2):c.1206A>G (p.Gln402=)
|
rs749406136
|
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.1237C>T (p.Arg413Ter)
|
rs147030232
|
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.311A>C (p.Asp104Ala)
|
rs121908179
|
0.00003
|
NM_031885.5(BBS2):c.380C>G (p.Thr127Arg)
|
rs1191790453
|
0.00003
|
NM_031885.5(BBS2):c.612+17C>T
|
rs745726316
|
0.00003
|
NM_031885.5(BBS2):c.635T>C (p.Met212Thr)
|
rs764600063
|
0.00003
|
NM_031885.5(BBS2):c.72C>G (p.Tyr24Ter)
|
rs121908175
|
0.00003
|
NM_054012.4(ASS1):c.1069C>T (p.Gln357Ter)
|
rs756859126
|
0.00003
|
NM_054012.4(ASS1):c.970G>A (p.Gly324Ser)
|
rs121908639
|
0.00003
|
NM_144596.4(TTC8):c.54G>A (p.Arg18=)
|
rs745942356
|
0.00003
|
NM_144596.4(TTC8):c.980A>G (p.Glu327Gly)
|
rs749721461
|
0.00003
|
NM_172250.3(MMAA):c.658G>A (p.Val220Met)
|
rs150376474
|
0.00003
|
NM_177965.4(CFAP418):c.254C>T (p.Ser85Phe)
|
rs764463463
|
0.00003
|
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met)
|
rs28939720
|
0.00003
|
NM_205861.3(DHDDS):c.292C>T (p.Arg98Trp)
|
rs754564043
|
0.00003
|
NM_206933.4(USH2A):c.12701C>T (p.Thr4234Met)
|
rs564240175
|
0.00003
|
NM_206933.4(USH2A):c.13732A>G (p.Lys4578Glu)
|
rs765354805
|
0.00003
|
NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg)
|
rs111033273
|
0.00003
|
NM_206933.4(USH2A):c.5167G>C (p.Gly1723Arg)
|
rs1342455785
|
0.00003
|
NM_206933.4(USH2A):c.7595-3C>G
|
rs201657446
|
0.00003
|
NM_206933.4(USH2A):c.8559-2A>G
|
rs397518039
|
0.00003
|
NM_206933.4(USH2A):c.9355C>T (p.Arg3119Cys)
|
rs576236830
|
0.00003
|
NM_206933.4(USH2A):c.949C>A (p.Arg317=)
|
rs111033272
|
0.00003
|
NM_206933.4(USH2A):c.9842G>T (p.Cys3281Phe)
|
rs727504654
|
0.00003
|
NM_000016.6(ACADM):c.244dup (p.Trp82fs)
|
rs786204566
|
0.00002
|
NM_000016.6(ACADM):c.601del (p.Tyr201fs)
|
rs772650083
|
0.00002
|
NM_000016.6(ACADM):c.6A>C (p.Ala2=)
|
rs752190688
|
0.00002
|
NM_000018.4(ACADVL):c.-72_-71insGAGGACGTGGGCGTG
|
rs1555527381
|
0.00002
|
NM_000018.4(ACADVL):c.1322G>A (p.Gly441Asp)
|
rs2309689
|
0.00002
|
NM_000018.4(ACADVL):c.1679-6G>A
|
rs113994171
|
0.00002
|
NM_000018.4(ACADVL):c.340G>A (p.Glu114Lys)
|
rs557260142
|
0.00002
|
NM_000018.4(ACADVL):c.858G>A (p.Arg286=)
|
rs531514327
|
0.00002
|
NM_000019.4(ACAT1):c.547G>A (p.Gly183Arg)
|
rs120074141
|
0.00002
|
NM_000026.4(ADSL):c.802G>A (p.Asp268Asn)
|
rs746501563
|
0.00002
|
NM_000026.4(ADSL):c.887G>A (p.Arg296Gln)
|
rs755059672
|
0.00002
|
NM_000048.4(ASL):c.447-1G>A
|
rs778254333
|
0.00002
|
NM_000048.4(ASL):c.557G>A (p.Arg186Gln)
|
rs752397242
|
0.00002
|
NM_000048.4(ASL):c.637C>T (p.Arg213Ter)
|
rs761651320
|
0.00002
|
NM_000071.3(CBS):c.1006C>T (p.Arg336Cys)
|
rs398123151
|
0.00002
|
NM_000071.3(CBS):c.599C>T (p.Pro200Leu)
|
rs758712880
|
0.00002
|
NM_000137.4(FAH):c.341C>T (p.Thr114Met)
|
rs772014160
|
0.00002
|
NM_000156.6(GAMT):c.220G>A (p.Ala74Thr)
|
rs749284008
|
0.00002
|
NM_000156.6(GAMT):c.403G>A (p.Asp135Asn)
|
rs774144200
|
0.00002
|
NM_000156.6(GAMT):c.493G>A (p.Val165Ile)
|
rs1050914
|
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.299C>T (p.Ser100Leu)
|
rs527416949
|
0.00002
|
NM_000170.3(GLDC):c.1342G>C (p.Glu448Gln)
|
rs777365335
|
0.00002
|
NM_000182.5(HADHA):c.1678C>T (p.Arg560Ter)
|
rs137852771
|
0.00002
|
NM_000182.5(HADHA):c.1912A>G (p.Ile638Val)
|
rs545660610
|
0.00002
|
NM_000187.4(HGD):c.342+1G>T
|
rs397515518
|
0.00002
|
NM_000188.3(HK1):c.949G>A (p.Gly317Ser)
|
rs202028638
|
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_000255.4(MMUT):c.161A>G (p.Lys54Arg)
|
rs559152765
|
0.00002
|
NM_000255.4(MMUT):c.1880A>G (p.His627Arg)
|
rs372486357
|
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_000255.4(MMUT):c.912-14C>T
|
rs200394018
|
0.00002
|
NM_000255.4(MMUT):c.983T>C (p.Leu328Pro)
|
rs965316043
|
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.283A>T (p.Ile95Phe)
|
rs62508682
|
0.00002
|
NM_000277.3(PAH):c.441+15C>T
|
rs187133779
|
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_000282.4(PCCA):c.946A>T (p.Met316Leu)
|
rs200311920
|
0.00002
|
NM_000329.3(RPE65):c.304G>T (p.Glu102Ter)
|
rs62642584
|
0.00002
|
NM_000329.3(RPE65):c.74C>T (p.Pro25Leu)
|
rs199683808
|
0.00002
|
NM_000341.4(SLC3A1):c.1367G>A (p.Arg456His)
|
rs373852467
|
0.00002
|
NM_000341.4(SLC3A1):c.1500+1G>T
|
rs886042834
|
0.00002
|
NM_000341.4(SLC3A1):c.1809A>C (p.Thr603=)
|
rs746978183
|
0.00002
|
NM_000350.3(ABCA4):c.179C>T (p.Ala60Val)
|
rs55732384
|
0.00002
|
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp)
|
rs61749409
|
0.00002
|
NM_000350.3(ABCA4):c.303-3C>T
|
rs777945195
|
0.00002
|
NM_000353.3(TAT):c.683G>C (p.Arg228Pro)
|
rs554840029
|
0.00002
|
NM_000360.4(TH):c.364C>T (p.Arg122Ter)
|
rs771610752
|
0.00002
|
NM_000372.5(TYR):c.1037-1G>A
|
rs61754382
|
0.00002
|
NM_000372.5(TYR):c.389A>T (p.Glu130Val)
|
rs966882228
|
0.00002
|
NM_000440.3(PDE6A):c.2548_2552del (p.Gly850fs)
|
rs1240421230
|
0.00002
|
NM_000532.5(PCCB):c.1304A>G (p.Tyr435Cys)
|
rs121964961
|
0.00002
|
NM_000532.5(PCCB):c.1372G>A (p.Ala458Thr)
|
rs542389615
|
0.00002
|
NM_000532.5(PCCB):c.543G>C (p.Leu181=)
|
rs777868289
|
0.00002
|
NM_000666.3(ACY1):c.699A>C (p.Glu233Asp)
|
rs121912699
|
0.00002
|
NM_000709.4(BCKDHA):c.1087C>T (p.Arg363Trp)
|
rs942815730
|
0.00002
|
NM_000709.4(BCKDHA):c.659C>T (p.Ala220Val)
|
rs375785084
|
0.00002
|
NM_000883.4(IMPDH1):c.1800A>G (p.Ter600Trp)
|
rs747314543
|
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_001080.3(ALDH5A1):c.278G>T (p.Cys93Phe)
|
rs765561257
|
0.00002
|
NM_001081.4(CUBN):c.10612G>T (p.Glu3538Ter)
|
rs756614749
|
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.5758G>A (p.Ala1920Thr)
|
rs770772474
|
0.00002
|
NM_001081.4(CUBN):c.5841C>T (p.Ser1947=)
|
rs199868206
|
0.00002
|
NM_001081.4(CUBN):c.5917A>G (p.Ile1973Val)
|
rs556462218
|
0.00002
|
NM_001081.4(CUBN):c.8204A>C (p.Asp2735Ala)
|
rs558369938
|
0.00002
|
NM_001081.4(CUBN):c.8755C>T (p.Arg2919Ter)
|
rs370038232
|
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.2890C>T (p.Pro964Ser)
|
rs1383144531
|
0.00002
|
NM_001127222.2(CACNA1A):c.3403G>A (p.Gly1135Ser)
|
rs762006290
|
0.00002
|
NM_001142800.2(EYS):c.6050G>T (p.Gly2017Val)
|
rs868349465
|
0.00002
|
NM_001142800.2(EYS):c.6575A>G (p.Asn2192Ser)
|
rs750904267
|
0.00002
|
NM_001142800.2(EYS):c.8182G>A (p.Ala2728Thr)
|
rs995862502
|
0.00002
|
NM_001201543.2(FAM161A):c.1004G>A (p.Arg335Gln)
|
rs755314585
|
0.00002
|
NM_001243279.3(ACSF3):c.1608G>A (p.Trp536Ter)
|
rs201954387
|
0.00002
|
NM_001243279.3(ACSF3):c.31C>T (p.Arg11Cys)
|
rs901081235
|
0.00002
|
NM_001258392.3(CLPB):c.214G>A (p.Gly72Arg)
|
rs758376345
|
0.00002
|
NM_001297.5(CNGB1):c.217+5G>C
|
rs527236060
|
0.00002
|
NM_001297.5(CNGB1):c.2210G>A (p.Arg737His)
|
rs764107600
|
0.00002
|
NM_001297.5(CNGB1):c.2284C>T (p.Arg762Cys)
|
rs1028371920
|
0.00002
|
NM_001352514.2(HLCS):c.2134C>T (p.Arg712Ter)
|
rs772791252
|
0.00002
|
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn)
|
rs397514367
|
0.00002
|
NM_001378615.1(CC2D2A):c.1994A>G (p.Gln665Arg)
|
rs1718235188
|
0.00002
|
NM_001378615.1(CC2D2A):c.3325C>T (p.Arg1109Ter)
|
rs760676442
|
0.00002
|
NM_001379270.1(CNGA1):c.1096G>A (p.Val366Met)
|
rs758625358
|
0.00002
|
NM_001482.3(GATM):c.494G>A (p.Ser165Asn)
|
rs780398292
|
0.00002
|
NM_001482.3(GATM):c.813+6C>T
|
rs771050735
|
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_001875.5(CPS1):c.2623A>G (p.Lys875Glu)
|
rs147062907
|
0.00002
|
NM_002225.5(IVD):c.205G>A (p.Asp69Asn)
|
rs747273828
|
0.00002
|
NM_002454.3(MTRR):c.166G>A (p.Val56Met)
|
rs761061866
|
0.00002
|
NM_002454.3(MTRR):c.766G>T (p.Glu256Ter)
|
rs375908206
|
0.00002
|
NM_003060.4(SLC22A5):c.208C>T (p.Arg70Trp)
|
rs753453677
|
0.00002
|
NM_003060.4(SLC22A5):c.845G>A (p.Arg282Gln)
|
rs386134210
|
0.00002
|
NM_003060.4(SLC22A5):c.865C>T (p.Arg289Ter)
|
rs386134212
|
0.00002
|
NM_003060.4(SLC22A5):c.951G>A (p.Glu317=)
|
rs1431971523
|
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_003982.4(SLC7A7):c.1429+8G>A
|
rs201766738
|
0.00002
|
NM_003982.4(SLC7A7):c.1468G>C (p.Val490Leu)
|
rs998787372
|
0.00002
|
NM_003982.4(SLC7A7):c.545dup (p.Val183fs)
|
rs386833818
|
0.00002
|
NM_003982.4(SLC7A7):c.589G>A (p.Ala197Thr)
|
rs1005993109
|
0.00002
|
NM_004311.4(ARL3):c.472T>G (p.Cys158Gly)
|
rs778332463
|
0.00002
|
NM_004937.3(CTNS):c.198_218del (p.Ile67_Pro73del)
|
rs113994204
|
0.00002
|
NM_004937.3(CTNS):c.61+20G>A
|
rs760019018
|
0.00002
|
NM_005050.4(ABCD4):c.20C>T (p.Ala7Val)
|
rs763842574
|
0.00002
|
NM_005334.3(HCFC1):c.2394C>T (p.Ile798=)
|
rs782244636
|
0.00002
|
NM_005957.5(MTHFR):c.470G>A (p.Arg157Gln)
|
rs121434295
|
0.00002
|
NM_006343.3(MERTK):c.345C>G (p.Cys115Trp)
|
rs772421550
|
0.00002
|
NM_012463.4(ATP6V0A2):c.2072T>C (p.Ile691Thr)
|
rs144946016
|
0.00002
|
NM_014049.5(ACAD9):c.1237G>A (p.Glu413Lys)
|
rs149753643
|
0.00002
|
NM_014249.4(NR2E3):c.371C>T (p.Pro124Leu)
|
rs958455222
|
0.00002
|
NM_014251.3(SLC25A13):c.1157G>C (p.Gly386Ala)
|
rs776461118
|
0.00002
|
NM_014252.4(SLC25A15):c.397C>T (p.Arg133Trp)
|
rs573469049
|
0.00002
|
NM_014270.5(SLC7A9):c.466G>A (p.Ala156Thr)
|
rs1294879564
|
0.00002
|
NM_014270.5(SLC7A9):c.468C>T (p.Ala156=)
|
rs770249299
|
0.00002
|
NM_014270.5(SLC7A9):c.864G>A (p.Ala288=)
|
rs781259784
|
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.2691C>T (p.Arg897=)
|
rs776456361
|
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.312C>T (p.Ala104=)
|
rs138263672
|
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.574C>T (p.Leu192=)
|
rs762919217
|
0.00002
|
NM_015506.3(MMACHC):c.606T>C (p.Asp202=)
|
rs748881103
|
0.00002
|
NM_015506.3(MMACHC):c.608G>A (p.Trp203Ter)
|
rs398124295
|
0.00002
|
NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter)
|
rs587776889
|
0.00002
|
NM_015506.3(MMACHC):c.683C>T (p.Ala228Val)
|
rs201269886
|
0.00002
|
NM_015506.3(MMACHC):c.840del (p.Gly281fs)
|
rs757384010
|
0.00002
|
NM_015662.3(IFT172):c.1005+10A>T
|
rs771534291
|
0.00002
|
NM_015662.3(IFT172):c.1238A>G (p.Asn413Ser)
|
rs962054597
|
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.1693-19G>T
|
rs202039261
|
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.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.2722C>T (p.Arg908Trp)
|
rs745644146
|
0.00002
|
NM_015662.3(IFT172):c.3146A>C (p.Glu1049Ala)
|
rs138139922
|
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.402+2T>G
|
rs774548930
|
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.412G>A (p.Ala138Thr)
|
rs1461000488
|
0.00002
|
NM_015662.3(IFT172):c.4228G>T (p.Val1410Leu)
|
rs777573615
|
0.00002
|
NM_015662.3(IFT172):c.4627A>G (p.Thr1543Ala)
|
rs769170592
|
0.00002
|
NM_015662.3(IFT172):c.4656G>A (p.Gln1552=)
|
rs530107456
|
0.00002
|
NM_015662.3(IFT172):c.529G>A (p.Val177Ile)
|
rs754880269
|
0.00002
|
NM_015662.3(IFT172):c.721C>T (p.Arg241Trp)
|
rs772012378
|
0.00002
|
NM_016335.6(PRODH):c.1763G>A (p.Arg588Lys)
|
rs1239323884
|
0.00002
|
NM_016373.4(WWOX):c.790C>T (p.Arg264Ter)
|
rs756762196
|
0.00002
|
NM_017739.4(POMGNT1):c.636C>T (p.Phe212=)
|
rs190057175
|
0.00002
|
NM_020166.5(MCCC1):c.137-2A>G
|
rs727504006
|
0.00002
|
NM_020166.5(MCCC1):c.639+5G>T
|
rs768630906
|
0.00002
|
NM_020166.5(MCCC1):c.841C>T (p.Arg281Ter)
|
rs185741664
|
0.00002
|
NM_020208.4(SLC6A20):c.1092A>T (p.Leu364=)
|
rs371002443
|
0.00002
|
NM_022132.5(MCCC2):c.463C>T (p.Arg155Trp)
|
rs141030969
|
0.00002
|
NM_024741.3(ZNF408):c.1621C>T (p.Arg541Cys)
|
rs781192528
|
0.00002
|
NM_031885.5(BBS2):c.112G>A (p.Gly38Ser)
|
rs768699088
|
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.1780C>T (p.Arg594Ter)
|
rs762047808
|
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.382T>C (p.Leu128=)
|
rs374060552
|
0.00002
|
NM_031885.5(BBS2):c.814C>T (p.Arg272Ter)
|
rs764164384
|
0.00002
|
NM_031885.5(BBS2):c.941-11C>T
|
rs763441369
|
0.00002
|
NM_031885.5(BBS2):c.941-6G>A
|
rs746397118
|
0.00002
|
NM_032861.4(SERAC1):c.1309-19T>G
|
rs372001660
|
0.00002
|
NM_052845.4(MMAB):c.568C>T (p.Arg190Cys)
|
rs398124434
|
0.00002
|
NM_054012.4(ASS1):c.490G>A (p.Ala164Thr)
|
rs201445618
|
0.00002
|
NM_054012.4(ASS1):c.836G>A (p.Arg279Gln)
|
rs371265106
|
0.00002
|
NM_054012.4(ASS1):c.920G>A (p.Arg307His)
|
rs571576756
|
0.00002
|
NM_144596.4(TTC8):c.43T>C (p.Phe15Leu)
|
rs1379428942
|
0.00002
|
NM_144596.4(TTC8):c.607G>A (p.Glu203Lys)
|
rs1018209116
|
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_152419.3(HGSNAT):c.1209G>T (p.Trp403Cys)
|
rs764206492
|
0.00002
|
NM_152419.3(HGSNAT):c.1411G>A (p.Glu471Lys)
|
rs753355844
|
0.00002
|
NM_152419.3(HGSNAT):c.1634C>T (p.Thr545Met)
|
rs377050184
|
0.00002
|
NM_152419.3(HGSNAT):c.372-2A>G
|
rs483352896
|
0.00002
|
NM_153006.3(NAGS):c.505A>T (p.Met169Leu)
|
rs569174201
|
0.00002
|
NM_153006.3(NAGS):c.739C>T (p.Gln247Ter)
|
rs748875458
|
0.00002
|
NM_177550.5(SLC13A5):c.1447A>G (p.Ile483Val)
|
rs143719876
|
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_201253.3(CRB1):c.2875G>A (p.Gly959Ser)
|
rs557111131
|
0.00002
|
NM_206933.4(USH2A):c.15547G>A (p.Ala5183Thr)
|
rs267598369
|
0.00002
|
NM_206933.4(USH2A):c.6883G>A (p.Gly2295Arg)
|
rs768253909
|
0.00002
|
NM_206933.4(USH2A):c.7183C>T (p.Leu2395Phe)
|
rs372950392
|
0.00002
|
NM_206933.4(USH2A):c.9921T>G (p.Cys3307Trp)
|
rs1057519382
|
0.00002
|
NM_000016.6(ACADM):c.296G>T (p.Gly99Val)
|
rs370608001
|
0.00001
|
NM_000016.6(ACADM):c.599+1G>A
|
rs866388216
|
0.00001
|
NM_000016.6(ACADM):c.734C>T (p.Ser245Leu)
|
rs121434281
|
0.00001
|
NM_000016.6(ACADM):c.756C>T (p.Phe252=)
|
rs749692458
|
0.00001
|
NM_000017.4(ACADS):c.1031A>G (p.Glu344Gly)
|
rs387906950
|
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.958G>T (p.Ala320Ser)
|
rs777939247
|
0.00001
|
NM_000017.4(ACADS):c.981_983del (p.Thr328del)
|
rs1347248007
|
0.00001
|
NM_000018.4(ACADVL):c.1198G>A (p.Val400Met)
|
rs149116708
|
0.00001
|
NM_000018.4(ACADVL):c.1405C>T (p.Arg469Trp)
|
rs113994170
|
0.00001
|
NM_000018.4(ACADVL):c.1552G>A (p.Gly518Ser)
|
rs374507980
|
0.00001
|
NM_000018.4(ACADVL):c.661A>G (p.Ser221Gly)
|
rs767063791
|
0.00001
|
NM_000018.4(ACADVL):c.782T>C (p.Val261Ala)
|
rs756069599
|
0.00001
|
NM_000018.4(ACADVL):c.887_888del (p.Pro296fs)
|
rs753108198
|
0.00001
|
NM_000019.4(ACAT1):c.1200T>C (p.His400=)
|
rs748749897
|
0.00001
|
NM_000019.4(ACAT1):c.155T>C (p.Ile52Thr)
|
rs151080188
|
0.00001
|
NM_000019.4(ACAT1):c.472A>G (p.Asn158Asp)
|
rs148639841
|
0.00001
|
NM_000019.4(ACAT1):c.814C>T (p.Gln272Ter)
|
rs120074144
|
0.00001
|
NM_000019.4(ACAT1):c.826+1G>T
|
rs727503796
|
0.00001
|
NM_000019.4(ACAT1):c.935T>C (p.Ile312Thr)
|
rs120074146
|
0.00001
|
NM_000026.4(ADSL):c.1339T>C (p.Ser447Pro)
|
rs777821034
|
0.00001
|
NM_000026.4(ADSL):c.154-9A>G
|
rs762257005
|
0.00001
|
NM_000026.4(ADSL):c.568C>T (p.Arg190Ter)
|
rs750614500
|
0.00001
|
NM_000045.4(ARG1):c.372dup (p.Ala125fs)
|
rs776939220
|
0.00001
|
NM_000045.4(ARG1):c.57+1G>A
|
rs587776539
|
0.00001
|
NM_000045.4(ARG1):c.61C>T (p.Arg21Ter)
|
rs104893944
|
0.00001
|
NM_000048.4(ASL):c.507G>C (p.Trp169Cys)
|
rs759952363
|
0.00001
|
NM_000048.4(ASL):c.566A>G (p.Glu189Gly)
|
rs756363516
|
0.00001
|
NM_000048.4(ASL):c.602+1G>A
|
rs398123127
|
0.00001
|
NM_000048.4(ASL):c.772G>A (p.Glu258Lys)
|
rs909358635
|
0.00001
|
NM_000071.3(CBS):c.1111G>A (p.Val371Met)
|
rs372010465
|
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.676G>C (p.Ala226Pro)
|
rs763835246
|
0.00001
|
NM_000108.5(DLD):c.1500T>C (p.Ala500=)
|
rs773097788
|
0.00001
|
NM_000126.4(ETFA):c.39G>A (p.Ala13=)
|
rs776956043
|
0.00001
|
NM_000137.4(FAH):c.192G>T (p.Gln64His)
|
rs80338894
|
0.00001
|
NM_000156.6(GAMT):c.293G>A (p.Arg98Gln)
|
rs200052696
|
0.00001
|
NM_000156.6(GAMT):c.407C>T (p.Thr136Met)
|
rs374724533
|
0.00001
|
NM_000156.6(GAMT):c.473G>A (p.Arg158His)
|
rs750195151
|
0.00001
|
NM_000159.4(GCDH):c.157C>T (p.Pro53Ser)
|
rs768532620
|
0.00001
|
NM_000159.4(GCDH):c.383G>A (p.Arg128Gln)
|
rs755586631
|
0.00001
|
NM_000159.4(GCDH):c.395G>A (p.Arg132Gln)
|
rs200639270
|
0.00001
|
NM_000159.4(GCDH):c.416C>T (p.Ser139Leu)
|
rs139851890
|
0.00001
|
NM_000159.4(GCDH):c.482G>A (p.Arg161Gln)
|
rs777201305
|
0.00001
|
NM_000159.4(GCDH):c.532G>A (p.Gly178Arg)
|
rs749452002
|
0.00001
|
NM_000159.4(GCDH):c.764C>T (p.Ser255Leu)
|
rs758503371
|
0.00001
|
NM_000170.3(GLDC):c.1401+1G>A
|
rs1211616091
|
0.00001
|
NM_000170.3(GLDC):c.1525C>G (p.Pro509Ala)
|
rs557412758
|
0.00001
|
NM_000170.3(GLDC):c.1786C>T (p.Arg596Ter)
|
rs386833531
|
0.00001
|
NM_000170.3(GLDC):c.2013T>A (p.Asp671Glu)
|
rs762425284
|
0.00001
|
NM_000170.3(GLDC):c.2498C>T (p.Ala833Val)
|
rs1275684568
|
0.00001
|
NM_000170.3(GLDC):c.806C>T (p.Thr269Met)
|
rs386833587
|
0.00001
|
NM_000182.5(HADHA):c.1829G>A (p.Arg610Gln)
|
rs373966336
|
0.00001
|
NM_000182.5(HADHA):c.2026C>T (p.Arg676Cys)
|
rs771028541
|
0.00001
|
NM_000182.5(HADHA):c.67+3G>A
|
rs759265828
|
0.00001
|
NM_000187.4(HGD):c.1078G>C (p.Gly360Arg)
|
rs368717991
|
0.00001
|
NM_000187.4(HGD):c.1335T>C (p.Asn445=)
|
rs187614203
|
0.00001
|
NM_000187.4(HGD):c.291G>A (p.Trp97Ter)
|
rs766714128
|
0.00001
|
NM_000187.4(HGD):c.343-5C>T
|
rs779590565
|
0.00001
|
NM_000187.4(HGD):c.473C>T (p.Pro158Leu)
|
rs375396766
|
0.00001
|
NM_000187.4(HGD):c.674G>A (p.Arg225His)
|
rs562853291
|
0.00001
|
NM_000187.4(HGD):c.915T>C (p.Ser305=)
|
rs144158342
|
0.00001
|
NM_000191.3(HMGCL):c.121C>T (p.Arg41Ter)
|
rs770225915
|
0.00001
|
NM_000255.4(MMUT):c.1084-2A>G
|
rs879253839
|
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.1280G>A (p.Gly427Asp)
|
rs753288303
|
0.00001
|
NM_000255.4(MMUT):c.1400G>A (p.Arg467Gln)
|
rs147737629
|
0.00001
|
NM_000255.4(MMUT):c.1512A>G (p.Ala504=)
|
rs762792688
|
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.1846C>T (p.Arg616Cys)
|
rs765284825
|
0.00001
|
NM_000255.4(MMUT):c.1906A>G (p.Thr636Ala)
|
rs569669261
|
0.00001
|
NM_000255.4(MMUT):c.1970T>C (p.Val657Ala)
|
rs1767102899
|
0.00001
|
NM_000255.4(MMUT):c.2046T>C (p.Val682=)
|
rs201456803
|
0.00001
|
NM_000255.4(MMUT):c.2082G>A (p.Arg694=)
|
rs752705830
|
0.00001
|
NM_000255.4(MMUT):c.2179C>T (p.Arg727Ter)
|
rs779990936
|
0.00001
|
NM_000255.4(MMUT):c.2206C>T (p.Leu736Phe)
|
rs753461919
|
0.00001
|
NM_000255.4(MMUT):c.257C>T (p.Pro86Leu)
|
rs769348060
|
0.00001
|
NM_000255.4(MMUT):c.281G>T (p.Gly94Val)
|
rs535411418
|
0.00001
|
NM_000255.4(MMUT):c.322C>T (p.Arg108Cys)
|
rs121918257
|
0.00001
|
NM_000255.4(MMUT):c.323G>A (p.Arg108His)
|
rs483352778
|
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.423G>A (p.Ala141=)
|
rs547142339
|
0.00001
|
NM_000255.4(MMUT):c.454C>T (p.Arg152Ter)
|
rs780068818
|
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.581C>T (p.Pro194Leu)
|
rs1254433398
|
0.00001
|
NM_000255.4(MMUT):c.654A>C (p.Gln218His)
|
rs1446389693
|
0.00001
|
NM_000255.4(MMUT):c.753+1G>A
|
rs1028877309
|
0.00001
|
NM_000255.4(MMUT):c.954A>G (p.Glu318=)
|
rs1471303851
|
0.00001
|
NM_000255.4(MMUT):c.982C>T (p.Leu328Phe)
|
rs796052002
|
0.00001
|
NM_000274.4(OAT):c.461G>A (p.Arg154His)
|
rs121965039
|
0.00001
|
NM_000274.4(OAT):c.698A>G (p.Gln233Arg)
|
rs386833615
|
0.00001
|
NM_000274.4(OAT):c.800C>T (p.Thr267Ile)
|
rs386833618
|
0.00001
|
NM_000276.4(OCRL):c.115T>C (p.Tyr39His)
|
rs756670728
|
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.2582-9G>A
|
rs2071705
|
0.00001
|
NM_000276.4(OCRL):c.92C>T (p.Thr31Ile)
|
rs762676076
|
0.00001
|
NM_000277.3(PAH):c.1033G>T (p.Ala345Ser)
|
rs62516062
|
0.00001
|
NM_000277.3(PAH):c.1259G>T (p.Arg420Met)
|
rs767075719
|
0.00001
|
NM_000277.3(PAH):c.169-2A>G
|
rs1226613045
|
0.00001
|
NM_000277.3(PAH):c.169G>A (p.Glu57Lys)
|
rs140945592
|
0.00001
|
NM_000277.3(PAH):c.193A>G (p.Ile65Val)
|
rs199475643
|
0.00001
|
NM_000277.3(PAH):c.212G>A (p.Arg71His)
|
rs62508695
|
0.00001
|
NM_000277.3(PAH):c.441+1G>A
|
rs62517166
|
0.00001
|
NM_000277.3(PAH):c.441+5G>T
|
rs62507321
|
0.00001
|
NM_000277.3(PAH):c.442-5C>G
|
rs62514909
|
0.00001
|
NM_000277.3(PAH):c.490A>G (p.Ile164Val)
|
rs199475647
|
0.00001
|
NM_000277.3(PAH):c.611A>G (p.Tyr204Cys)
|
rs62514927
|
0.00001
|
NM_000277.3(PAH):c.653G>T (p.Gly218Val)
|
rs62514933
|
0.00001
|
NM_000277.3(PAH):c.728G>A (p.Arg243Gln)
|
rs62508588
|
0.00001
|
NM_000277.3(PAH):c.755G>A (p.Arg252Gln)
|
rs62644503
|
0.00001
|
NM_000277.3(PAH):c.829T>G (p.Tyr277Asp)
|
rs78655458
|
0.00001
|
NM_000277.3(PAH):c.842+3G>C
|
rs62507324
|
0.00001
|
NM_000277.3(PAH):c.889C>T (p.Arg297Cys)
|
rs62642945
|
0.00001
|
NM_000277.3(PAH):c.913-7A>G
|
rs62517165
|
0.00001
|
NM_000281.4(PCBD1):c.179T>C (p.Leu60Pro)
|
rs768330993
|
0.00001
|
NM_000281.4(PCBD1):c.244T>C (p.Cys82Arg)
|
rs104894177
|
0.00001
|
NM_000281.4(PCBD1):c.294A>G (p.Gln98=)
|
rs773744136
|
0.00001
|
NM_000282.4(PCCA):c.1894A>G (p.Thr632Ala)
|
rs376313696
|
0.00001
|
NM_000282.4(PCCA):c.484G>A (p.Val162Ile)
|
rs1442819667
|
0.00001
|
NM_000283.4(PDE6B):c.1624C>T (p.Arg542Trp)
|
rs760042062
|
0.00001
|
NM_000283.4(PDE6B):c.262C>T (p.Gln88Ter)
|
rs970768801
|
0.00001
|
NM_000317.3(PTS):c.78G>T (p.Leu26Phe)
|
rs1317230624
|
0.00001
|
NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser)
|
rs61752909
|
0.00001
|
NM_000329.3(RPE65):c.1597T>A (p.Ser533Thr)
|
rs577335767
|
0.00001
|
NM_000329.3(RPE65):c.907A>T (p.Lys303Ter)
|
rs61752904
|
0.00001
|
NM_000329.3(RPE65):c.95-2A>T
|
rs61751279
|
0.00001
|
NM_000341.4(SLC3A1):c.1085G>A (p.Arg362His)
|
rs121912697
|
0.00001
|
NM_000341.4(SLC3A1):c.1119G>A (p.Thr373=)
|
rs772223467
|
0.00001
|
NM_000341.4(SLC3A1):c.1326C>T (p.Asn442=)
|
rs368554884
|
0.00001
|
NM_000341.4(SLC3A1):c.1406T>G (p.Leu469Arg)
|
rs1469809535
|
0.00001
|
NM_000341.4(SLC3A1):c.1657C>G (p.Gln553Glu)
|
rs754053965
|
0.00001
|
NM_000341.4(SLC3A1):c.1699_1700del (p.Arg567fs)
|
rs777575410
|
0.00001
|
NM_000341.4(SLC3A1):c.2020dup (p.Tyr674fs)
|
rs777149216
|
0.00001
|
NM_000341.4(SLC3A1):c.508C>G (p.Leu170Val)
|
rs757439376
|
0.00001
|
NM_000341.4(SLC3A1):c.67G>A (p.Gly23Arg)
|
rs750919380
|
0.00001
|
NM_000341.4(SLC3A1):c.766-2A>C
|
rs201376169
|
0.00001
|
NM_000350.3(ABCA4):c.1009T>C (p.Phe337Leu)
|
rs886044724
|
0.00001
|
NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg)
|
rs61748558
|
0.00001
|
NM_000350.3(ABCA4):c.1957C>T (p.Arg653Cys)
|
rs61749420
|
0.00001
|
NM_000350.3(ABCA4):c.3259G>A (p.Glu1087Lys)
|
rs61751398
|
0.00001
|
NM_000350.3(ABCA4):c.4234C>T (p.Gln1412Ter)
|
rs61750137
|
0.00001
|
NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg)
|
rs61750146
|
0.00001
|
NM_000350.3(ABCA4):c.4765G>A (p.Val1589Met)
|
rs767980304
|
0.00001
|
NM_000350.3(ABCA4):c.5209G>A (p.Val1737Met)
|
rs761017794
|
0.00001
|
NM_000350.3(ABCA4):c.5318C>T (p.Ala1773Val)
|
rs760549861
|
0.00001
|
NM_000350.3(ABCA4):c.5383T>G (p.Leu1795Val)
|
rs1188515677
|
0.00001
|
NM_000350.3(ABCA4):c.5572T>A (p.Tyr1858Asn)
|
rs371489809
|
0.00001
|
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter)
|
rs61751383
|
0.00001
|
NM_000350.3(ABCA4):c.6118C>T (p.Arg2040Ter)
|
rs61753038
|
0.00001
|
NM_000350.3(ABCA4):c.6342G>A (p.Val2114=)
|
rs61748520
|
0.00001
|
NM_000350.3(ABCA4):c.658C>T (p.Arg220Cys)
|
rs61748538
|
0.00001
|
NM_000350.3(ABCA4):c.6805C>T (p.Arg2269Ter)
|
rs372234578
|
0.00001
|
NM_000353.3(TAT):c.1223C>T (p.Thr408Met)
|
rs200815080
|
0.00001
|
NM_000353.3(TAT):c.889C>T (p.Arg297Ter)
|
rs758491525
|
0.00001
|
NM_000360.4(TH):c.1250C>T (p.Ala417Val)
|
rs756236294
|
0.00001
|
NM_000360.4(TH):c.541A>T (p.Thr181Ser)
|
rs774561953
|
0.00001
|
NM_000360.4(TH):c.614T>C (p.Leu205Pro)
|
rs121917763
|
0.00001
|
NM_000360.4(TH):c.646G>A (p.Gly216Ser)
|
rs762304556
|
0.00001
|
NM_000360.4(TH):c.91-892C>T
|
rs775961364
|
0.00001
|
NM_000372.5(TYR):c.1255G>A (p.Gly419Arg)
|
rs61754392
|
0.00001
|
NM_000372.5(TYR):c.164G>A (p.Cys55Tyr)
|
rs28940879
|
0.00001
|
NM_000387.6(SLC25A20):c.496C>T (p.Arg166Ter)
|
rs151340616
|
0.00001
|
NM_000440.3(PDE6A):c.1407+1G>C
|
rs781616522
|
0.00001
|
NM_000440.3(PDE6A):c.1684C>T (p.Arg562Trp)
|
rs759589388
|
0.00001
|
NM_000481.4(AMT):c.218G>A (p.Arg73His)
|
rs928833763
|
0.00001
|
NM_000481.4(AMT):c.29G>A (p.Arg10His)
|
rs150649086
|
0.00001
|
NM_000481.4(AMT):c.664C>T (p.Arg222Cys)
|
rs781466698
|
0.00001
|
NM_000481.4(AMT):c.889C>T (p.Arg297Ter)
|
rs766422988
|
0.00001
|
NM_000481.4(AMT):c.890G>A (p.Arg297Gln)
|
rs770048404
|
0.00001
|
NM_000485.3(APRT):c.1A>G (p.Met1Val)
|
rs930107496
|
0.00001
|
NM_000485.3(APRT):c.259C>T (p.Arg87Ter)
|
rs3169258
|
0.00001
|
NM_000485.3(APRT):c.294G>A (p.Trp98Ter)
|
rs104894507
|
0.00001
|
NM_000485.3(APRT):c.385C>T (p.Leu129=)
|
rs376129456
|
0.00001
|
NM_000531.6(OTC):c.520G>A (p.Ala174Thr)
|
rs72556281
|
0.00001
|
NM_000532.5(PCCB):c.1145A>G (p.Asp382Gly)
|
rs201138170
|
0.00001
|
NM_000532.5(PCCB):c.1253C>G (p.Ala418Gly)
|
rs770279302
|
0.00001
|
NM_000532.5(PCCB):c.1378A>G (p.Ile460Val)
|
rs376998134
|
0.00001
|
NM_000532.5(PCCB):c.1495C>T (p.Arg499Ter)
|
rs202247820
|
0.00001
|
NM_000532.5(PCCB):c.1535G>A (p.Arg512His)
|
rs764697873
|
0.00001
|
NM_000532.5(PCCB):c.1556T>C (p.Leu519Pro)
|
rs202247822
|
0.00001
|
NM_000532.5(PCCB):c.337C>T (p.Arg113Ter)
|
rs186031457
|
0.00001
|
NM_000532.5(PCCB):c.502G>A (p.Glu168Lys)
|
rs121964960
|
0.00001
|
NM_000532.5(PCCB):c.733G>A (p.Gly245Ser)
|
rs756414710
|
0.00001
|
NM_000532.5(PCCB):c.876C>G (p.His292Gln)
|
rs776893713
|
0.00001
|
NM_000541.5(SAG):c.208C>T (p.Arg70Cys)
|
rs777934036
|
0.00001
|
NM_000709.4(BCKDHA):c.1037G>A (p.Arg346His)
|
rs398123486
|
0.00001
|
NM_000709.4(BCKDHA):c.1234G>A (p.Val412Met)
|
rs398123490
|
0.00001
|
NM_000709.4(BCKDHA):c.277G>A (p.Glu93Lys)
|
rs753452195
|
0.00001
|
NM_000709.4(BCKDHA):c.632C>T (p.Thr211Met)
|
rs398123503
|
0.00001
|
NM_000709.4(BCKDHA):c.647C>T (p.Ala216Val)
|
rs369448982
|
0.00001
|
NM_000709.4(BCKDHA):c.944G>A (p.Arg315Gln)
|
rs201109190
|
0.00001
|
NM_001003841.3(SLC6A19):c.1468G>A (p.Gly490Ser)
|
rs775323445
|
0.00001
|
NM_001003841.3(SLC6A19):c.1485C>T (p.Leu495=)
|
rs572012976
|
0.00001
|
NM_001003841.3(SLC6A19):c.1521C>T (p.Tyr507=)
|
rs1319482740
|
0.00001
|
NM_001003841.3(SLC6A19):c.453C>T (p.Ser151=)
|
rs756989097
|
0.00001
|
NM_001003841.3(SLC6A19):c.657C>T (p.Thr219=)
|
rs764090881
|
0.00001
|
NM_001003841.3(SLC6A19):c.985G>A (p.Ala329Thr)
|
rs199795977
|
0.00001
|
NM_001080.3(ALDH5A1):c.1015-2A>C
|
rs769111673
|
0.00001
|
NM_001080.3(ALDH5A1):c.1226G>A (p.Gly409Asp)
|
rs118203984
|
0.00001
|
NM_001080442.3(SLC38A8):c.598C>T (p.Gln200Ter)
|
rs149592537
|
0.00001
|
NM_001081.4(CUBN):c.1022A>G (p.Gln341Arg)
|
rs149517557
|
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.1506G>A (p.Trp502Ter)
|
rs145818316
|
0.00001
|
NM_001081.4(CUBN):c.1644T>C (p.Phe548=)
|
rs559998744
|
0.00001
|
NM_001081.4(CUBN):c.164C>T (p.Thr55Met)
|
rs774556167
|
0.00001
|
NM_001081.4(CUBN):c.1704C>G (p.Leu568=)
|
rs752698463
|
0.00001
|
NM_001081.4(CUBN):c.1865del (p.Thr622fs)
|
rs386833771
|
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.2441A>G (p.Gln814Arg)
|
rs770392464
|
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.2997A>G (p.Thr999=)
|
rs762336429
|
0.00001
|
NM_001081.4(CUBN):c.3096del (p.Ala1031_Tyr1032insTer)
|
rs386833781
|
0.00001
|
NM_001081.4(CUBN):c.3101G>C (p.Gly1034Ala)
|
rs778092585
|
0.00001
|
NM_001081.4(CUBN):c.3932G>A (p.Arg1311Gln)
|
rs1037514591
|
0.00001
|
NM_001081.4(CUBN):c.4907G>T (p.Arg1636Leu)
|
rs538984401
|
0.00001
|
NM_001081.4(CUBN):c.4959G>A (p.Ala1653=)
|
rs577984421
|
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.5469C>T (p.Ile1823=)
|
rs754694753
|
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.6821+3A>G
|
rs767078847
|
0.00001
|
NM_001081.4(CUBN):c.6847C>T (p.Arg2283Trp)
|
rs150117913
|
0.00001
|
NM_001081.4(CUBN):c.703C>T (p.Arg235Ter)
|
rs1461982823
|
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.8222C>A (p.Thr2741Asn)
|
rs771697506
|
0.00001
|
NM_001081.4(CUBN):c.8463G>A (p.Trp2821Ter)
|
rs759203841
|
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.9297C>T (p.Tyr3099=)
|
rs754292924
|
0.00001
|
NM_001081.4(CUBN):c.9527A>G (p.Asn3176Ser)
|
rs750045664
|
0.00001
|
NM_001102564.3(IFT43):c.176G>A (p.Arg59Gln)
|
rs756786140
|
0.00001
|
NM_001102564.3(IFT43):c.195T>A (p.Gly65=)
|
rs766606545
|
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.368+17A>T
|
rs759453395
|
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.130G>A (p.Ala44Thr)
|
rs201398669
|
0.00001
|
NM_001127222.2(CACNA1A):c.2404C>A (p.Arg802Ser)
|
rs760816963
|
0.00001
|
NM_001127222.2(CACNA1A):c.2992G>A (p.Gly998Arg)
|
rs781006387
|
0.00001
|
NM_001127222.2(CACNA1A):c.4670G>A (p.Arg1557His)
|
rs755172189
|
0.00001
|
NM_001127222.2(CACNA1A):c.6431C>T (p.Pro2144Leu)
|
rs750077868
|
0.00001
|
NM_001127222.2(CACNA1A):c.6608A>G (p.Lys2203Arg)
|
rs1057521770
|
0.00001
|
NM_001127222.2(CACNA1A):c.848A>G (p.Asn283Ser)
|
rs1212952550
|
0.00001
|
NM_001142800.2(EYS):c.1247G>A (p.Ser416Asn)
|
rs761318837
|
0.00001
|
NM_001142800.2(EYS):c.2936A>C (p.Glu979Ala)
|
rs372948826
|
0.00001
|
NM_001142800.2(EYS):c.3164+1G>A
|
rs1029564423
|
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.3970del (p.Leu1324fs)
|
rs1431710414
|
0.00001
|
NM_001142800.2(EYS):c.490C>T (p.Arg164Ter)
|
rs794727631
|
0.00001
|
NM_001142800.2(EYS):c.5975A>G (p.Asn1992Ser)
|
rs762475623
|
0.00001
|
NM_001142800.2(EYS):c.6446C>A (p.Ser2149Tyr)
|
rs537922564
|
0.00001
|
NM_001142800.2(EYS):c.6824A>G (p.His2275Arg)
|
rs765650947
|
0.00001
|
NM_001142800.2(EYS):c.6976C>T (p.Arg2326Ter)
|
rs1060499783
|
0.00001
|
NM_001142800.2(EYS):c.7970del (p.Asp2657fs)
|
rs1477098845
|
0.00001
|
NM_001142800.2(EYS):c.8168del (p.Gln2723fs)
|
rs1168101857
|
0.00001
|
NM_001142800.2(EYS):c.853C>A (p.Gln285Lys)
|
rs988163418
|
0.00001
|
NM_001142800.2(EYS):c.8793A>G (p.Gln2931=)
|
rs1215751447
|
0.00001
|
NM_001164665.2(KIAA1549):c.1070C>A (p.Thr357Lys)
|
rs117227363
|
0.00001
|
NM_001201543.2(FAM161A):c.1804G>A (p.Glu602Lys)
|
rs769359884
|
0.00001
|
NM_001243279.3(ACSF3):c.1013C>T (p.Pro338Leu)
|
rs779630954
|
0.00001
|
NM_001243279.3(ACSF3):c.1329dup (p.Lys444Ter)
|
rs776995095
|
0.00001
|
NM_001243279.3(ACSF3):c.1405C>T (p.Arg469Ter)
|
rs748382994
|
0.00001
|
NM_001243279.3(ACSF3):c.1567C>T (p.Arg523Ter)
|
rs387907118
|
0.00001
|
NM_001243279.3(ACSF3):c.356G>A (p.Gly119Asp)
|
rs754782061
|
0.00001
|
NM_001243279.3(ACSF3):c.827G>A (p.Trp276Ter)
|
rs759338401
|
0.00001
|
NM_001271.4(CHD2):c.4481A>G (p.Asn1494Ser)
|
rs913833972
|
0.00001
|
NM_001271.4(CHD2):c.5058C>T (p.Ser1686=)
|
rs199851404
|
0.00001
|
NM_001271.4(CHD2):c.5242C>T (p.Arg1748Cys)
|
rs767099765
|
0.00001
|
NM_001271.4(CHD2):c.826G>A (p.Ala276Thr)
|
rs375521197
|
0.00001
|
NM_001278293.3(ARL6):c.362G>A (p.Arg121His)
|
rs765715798
|
0.00001
|
NM_001278293.3(ARL6):c.432T>A (p.Ser144=)
|
rs1324293417
|
0.00001
|
NM_001297.5(CNGB1):c.1676C>A (p.Thr559Lys)
|
rs768874859
|
0.00001
|
NM_001297.5(CNGB1):c.2902C>T (p.Arg968Trp)
|
rs780651730
|
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.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.5479A>G (p.Ile1827Val)
|
rs764115258
|
0.00001
|
NM_001354768.3(NRL):c.223dup (p.Leu75fs)
|
rs763191889
|
0.00001
|
NM_001370658.1(BTD):c.-17+2T>C
|
rs745648160
|
0.00001
|
NM_001370658.1(BTD):c.1379G>A (p.Gly460Glu)
|
rs558477960
|
0.00001
|
NM_001370658.1(BTD):c.175C>T (p.Arg59Cys)
|
rs104893687
|
0.00001
|
NM_001370658.1(BTD):c.320C>T (p.Pro107Leu)
|
rs575787457
|
0.00001
|
NM_001370658.1(BTD):c.545A>G (p.Asn182Ser)
|
rs397514376
|
0.00001
|
NM_001370658.1(BTD):c.571C>T (p.Arg191Cys)
|
rs372844636
|
0.00001
|
NM_001378615.1(CC2D2A):c.832C>T (p.Arg278Trp)
|
rs372873919
|
0.00001
|
NM_001379270.1(CNGA1):c.1898T>G (p.Leu633Arg)
|
rs756433866
|
0.00001
|
NM_001482.3(GATM):c.104C>A (p.Thr35Asn)
|
rs1331986925
|
0.00001
|
NM_001482.3(GATM):c.1257G>A (p.Gln419=)
|
rs774881489
|
0.00001
|
NM_001482.3(GATM):c.138C>T (p.Ser46=)
|
rs1012951622
|
0.00001
|
NM_001482.3(GATM):c.294C>T (p.Asn98=)
|
rs1271594468
|
0.00001
|
NM_001482.3(GATM):c.48G>T (p.Ala16=)
|
rs587780951
|
0.00001
|
NM_001482.3(GATM):c.505C>T (p.Arg169Ter)
|
rs397514708
|
0.00001
|
NM_001482.3(GATM):c.540C>T (p.Ile180=)
|
rs758473036
|
0.00001
|
NM_001482.3(GATM):c.565C>T (p.Arg189Cys)
|
rs377578020
|
0.00001
|
NM_001482.3(GATM):c.603A>C (p.Lys201Asn)
|
rs748600834
|
0.00001
|
NM_001482.3(GATM):c.616C>T (p.Arg206Cys)
|
rs769023072
|
0.00001
|
NM_001482.3(GATM):c.625A>G (p.Lys209Glu)
|
rs1393968087
|
0.00001
|
NM_001482.3(GATM):c.710A>G (p.Lys237Arg)
|
rs764877849
|
0.00001
|
NM_001482.3(GATM):c.76C>G (p.Arg26Gly)
|
rs1032267288
|
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.9G>A (p.Arg3=)
|
rs1471775361
|
0.00001
|
NM_001875.5(CPS1):c.1708-5G>A
|
rs571670790
|
0.00001
|
NM_001875.5(CPS1):c.3129C>G (p.Ile1043Met)
|
rs1294236456
|
0.00001
|
NM_001875.5(CPS1):c.3740A>C (p.Lys1247Thr)
|
rs754433289
|
0.00001
|
NM_001875.5(CPS1):c.3784C>T (p.Arg1262Ter)
|
rs1414143303
|
0.00001
|
NM_001875.5(CPS1):c.3785G>A (p.Arg1262Gln)
|
rs750670270
|
0.00001
|
NM_001875.5(CPS1):c.4002G>A (p.Glu1334=)
|
rs774434356
|
0.00001
|
NM_001876.4(CPT1A):c.116G>C (p.Trp39Ser)
|
rs766209790
|
0.00001
|
NM_001876.4(CPT1A):c.263A>G (p.Asn88Ser)
|
rs781040444
|
0.00001
|
NM_001876.4(CPT1A):c.916G>A (p.Ala306Thr)
|
rs775746905
|
0.00001
|
NM_001918.5(DBT):c.673A>C (p.Ile225Leu)
|
rs1472099889
|
0.00001
|
NM_002225.5(IVD):c.286+2T>C
|
rs748026507
|
0.00001
|
NM_002225.5(IVD):c.784+1G>A
|
rs763471771
|
0.00001
|
NM_002454.3(MTRR):c.340C>T (p.Arg114Ter)
|
rs754990692
|
0.00001
|
NM_002454.3(MTRR):c.763C>T (p.Gln255Ter)
|
rs1353165398
|
0.00001
|
NM_002900.3(RBP3):c.722A>T (p.Asp241Val)
|
rs782211857
|
0.00001
|
NM_003060.4(SLC22A5):c.1125C>T (p.Asn375=)
|
rs202219455
|
0.00001
|
NM_003060.4(SLC22A5):c.1219C>T (p.Leu407Phe)
|
rs754913053
|
0.00001
|
NM_003060.4(SLC22A5):c.217G>C (p.Asp73His)
|
rs778137386
|
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.391G>A (p.Glu131Lys)
|
rs1321705165
|
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.632A>G (p.Tyr211Cys)
|
rs121908888
|
0.00001
|
NM_003060.4(SLC22A5):c.637G>A (p.Ala213Thr)
|
rs749602236
|
0.00001
|
NM_003060.4(SLC22A5):c.652+1G>A
|
rs386134200
|
0.00001
|
NM_003060.4(SLC22A5):c.688T>C (p.Phe230Leu)
|
rs756650860
|
0.00001
|
NM_003060.4(SLC22A5):c.71del (p.Leu24fs)
|
rs775502377
|
0.00001
|
NM_003060.4(SLC22A5):c.859C>T (p.Gln287Ter)
|
rs931801909
|
0.00001
|
NM_003060.4(SLC22A5):c.95A>G (p.Asn32Ser)
|
rs72552725
|
0.00001
|
NM_003611.3(OFD1):c.1468G>A (p.Glu490Lys)
|
rs1454731121
|
0.00001
|
NM_003611.3(OFD1):c.2117C>T (p.Thr706Ile)
|
rs773224811
|
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.1240A>G (p.Thr414Ala)
|
rs746859503
|
0.00001
|
NM_003748.4(ALDH4A1):c.1369G>A (p.Val457Ile)
|
rs199828375
|
0.00001
|
NM_003748.4(ALDH4A1):c.139C>T (p.Arg47Ter)
|
rs756807746
|
0.00001
|
NM_003982.4(SLC7A7):c.1147_1151dup (p.Tyr384Ter)
|
rs386833798
|
0.00001
|
NM_003982.4(SLC7A7):c.1189A>G (p.Ile397Val)
|
rs756936473
|
0.00001
|
NM_003982.4(SLC7A7):c.1244_1245insTTAC (p.Lys415fs)
|
rs752263234
|
0.00001
|
NM_003982.4(SLC7A7):c.1383_1384del (p.Ile461fs)
|
rs1355745932
|
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.242T>C (p.Leu81Pro)
|
rs755890052
|
0.00001
|
NM_003982.4(SLC7A7):c.313G>A (p.Ala105Thr)
|
rs775943127
|
0.00001
|
NM_003982.4(SLC7A7):c.447G>A (p.Pro149=)
|
rs375485114
|
0.00001
|
NM_003982.4(SLC7A7):c.588C>T (p.Ile196=)
|
rs747530058
|
0.00001
|
NM_003982.4(SLC7A7):c.726G>A (p.Trp242Ter)
|
rs121908679
|
0.00001
|
NM_003982.4(SLC7A7):c.860T>G (p.Met287Arg)
|
rs755142027
|
0.00001
|
NM_004113.6(FGF12):c.125-3C>G
|
rs371917110
|
0.00001
|
NM_004183.4(BEST1):c.1532A>G (p.Lys511Arg)
|
rs1199787091
|
0.00001
|
NM_004408.4(DNM1):c.44G>A (p.Arg15Gln)
|
rs763288862
|
0.00001
|
NM_004408.4(DNM1):c.633C>T (p.Asp211=)
|
rs1043525791
|
0.00001
|
NM_004408.4(DNM1):c.650G>A (p.Arg217His)
|
rs753953686
|
0.00001
|
NM_004453.4(ETFDH):c.1004G>C (p.Ser335Thr)
|
rs770140708
|
0.00001
|
NM_004453.4(ETFDH):c.1211T>C (p.Met404Thr)
|
rs779253471
|
0.00001
|
NM_004453.4(ETFDH):c.1378G>A (p.Gly460Arg)
|
rs989125087
|
0.00001
|
NM_004453.4(ETFDH):c.1483C>T (p.Arg495Trp)
|
rs774810601
|
0.00001
|
NM_004453.4(ETFDH):c.1601C>T (p.Pro534Leu)
|
rs200920510
|
0.00001
|
NM_004453.4(ETFDH):c.413T>G (p.Leu138Arg)
|
rs779896449
|
0.00001
|
NM_004453.4(ETFDH):c.586C>G (p.Pro196Ala)
|
rs201067972
|
0.00001
|
NM_004483.5(GCSH):c.364G>A (p.Glu122Lys)
|
rs753037667
|
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.416C>T (p.Ser139Phe)
|
rs267606754
|
0.00001
|
NM_004937.3(CTNS):c.454C>T (p.Arg152Trp)
|
rs754433265
|
0.00001
|
NM_004937.3(CTNS):c.61+2T>C
|
rs767289120
|
0.00001
|
NM_004937.3(CTNS):c.634G>A (p.Ala212Thr)
|
rs768600603
|
0.00001
|
NM_004937.3(CTNS):c.646dup (p.Thr216fs)
|
rs893207601
|
0.00001
|
NM_004937.3(CTNS):c.681+1G>A
|
rs749317721
|
0.00001
|
NM_004937.3(CTNS):c.682C>T (p.Arg228Cys)
|
rs764538705
|
0.00001
|
NM_004937.3(CTNS):c.729C>T (p.Leu243=)
|
rs762142619
|
0.00001
|
NM_004937.3(CTNS):c.822C>T (p.Leu274=)
|
rs150773117
|
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_005334.3(HCFC1):c.4153A>G (p.Arg1385Gly)
|
rs781783048
|
0.00001
|
NM_005881.4(BCKDK):c.904A>G (p.Ile302Val)
|
rs201164597
|
0.00001
|
NM_005957.5(MTHFR):c.1371T>C (p.Asp457=)
|
rs1428673436
|
0.00001
|
NM_005957.5(MTHFR):c.1632+2T>G
|
rs749765738
|
0.00001
|
NM_005957.5(MTHFR):c.416C>T (p.Thr139Met)
|
rs1057519360
|
0.00001
|
NM_006017.3(PROM1):c.1142-1G>A
|
rs752619497
|
0.00001
|
NM_006017.3(PROM1):c.2327A>T (p.Asp776Val)
|
rs1033920857
|
0.00001
|
NM_006269.2(RP1):c.1468G>T (p.Glu490Ter)
|
rs765035454
|
0.00001
|
NM_006269.2(RP1):c.1661G>A (p.Ser554Asn)
|
rs1252073669
|
0.00001
|
NM_006623.4(PHGDH):c.1209+4C>T
|
rs199611972
|
0.00001
|
NM_006907.4(PYCR1):c.790C>T (p.Arg264Cys)
|
rs770539885
|
0.00001
|
NM_012463.4(ATP6V0A2):c.1514+1G>A
|
rs374480381
|
0.00001
|
NM_012463.4(ATP6V0A2):c.2116G>A (p.Asp706Asn)
|
rs777130500
|
0.00001
|
NM_014003.4(DHX38):c.2065G>T (p.Ala689Ser)
|
rs1408544161
|
0.00001
|
NM_014049.5(ACAD9):c.1030-1G>T
|
rs773586510
|
0.00001
|
NM_014049.5(ACAD9):c.1168G>A (p.Ala390Thr)
|
rs763004980
|
0.00001
|
NM_014049.5(ACAD9):c.1646G>A (p.Arg549Gln)
|
rs750899715
|
0.00001
|
NM_014049.5(ACAD9):c.797G>A (p.Arg266Gln)
|
rs387907042
|
0.00001
|
NM_014249.4(NR2E3):c.164G>A (p.Ser55Asn)
|
rs1420894727
|
0.00001
|
NM_014249.4(NR2E3):c.222C>T (p.Ser74=)
|
rs767304567
|
0.00001
|
NM_014249.4(NR2E3):c.67G>C (p.Ala23Pro)
|
rs771928643
|
0.00001
|
NM_014251.3(SLC25A13):c.1637C>G (p.Thr546Arg)
|
rs548769905
|
0.00001
|
NM_014251.3(SLC25A13):c.550C>T (p.Arg184Ter)
|
rs80338716
|
0.00001
|
NM_014270.5(SLC7A9):c.209C>T (p.Ala70Val)
|
rs769448665
|
0.00001
|
NM_014270.5(SLC7A9):c.302T>A (p.Met101Lys)
|
rs771811712
|
0.00001
|
NM_014270.5(SLC7A9):c.922T>C (p.Phe308Leu)
|
rs770811201
|
0.00001
|
NM_014336.5(AIPL1):c.276+1G>A
|
rs150097891
|
0.00001
|
NM_014336.5(AIPL1):c.364G>C (p.Gly122Arg)
|
rs201883601
|
0.00001
|
NM_014336.5(AIPL1):c.828G>C (p.Glu276Asp)
|
rs772357501
|
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.1359+17C>T
|
rs767520111
|
0.00001
|
NM_014714.4(IFT140):c.1425G>C (p.Arg475=)
|
rs1312262491
|
0.00001
|
NM_014714.4(IFT140):c.1433-15C>T
|
rs749683523
|
0.00001
|
NM_014714.4(IFT140):c.1440C>G (p.Phe480Leu)
|
rs770727161
|
0.00001
|
NM_014714.4(IFT140):c.1451C>T (p.Thr484Met)
|
rs758052634
|
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.2578-2A>G
|
rs2040685752
|
0.00001
|
NM_014714.4(IFT140):c.257C>T (p.Thr86Met)
|
rs1159315989
|
0.00001
|
NM_014714.4(IFT140):c.2598C>G (p.Tyr866Ter)
|
rs144513458
|
0.00001
|
NM_014714.4(IFT140):c.2661G>A (p.Glu887=)
|
rs1287846996
|
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.2916C>T (p.Asp972=)
|
rs148945612
|
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.3214C>T (p.Arg1072Ter)
|
rs1432688490
|
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.3672G>A (p.Ala1224=)
|
rs765766910
|
0.00001
|
NM_014714.4(IFT140):c.3789G>A (p.Pro1263=)
|
rs769211167
|
0.00001
|
NM_014714.4(IFT140):c.3864T>C (p.Ala1288=)
|
rs1181821502
|
0.00001
|
NM_014714.4(IFT140):c.386T>G (p.Leu129Trp)
|
rs773768491
|
0.00001
|
NM_014714.4(IFT140):c.3874-1G>A
|
rs749563050
|
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.4056C>T (p.Asp1352=)
|
rs140265753
|
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.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_015506.3(MMACHC):c.217C>T (p.Arg73Ter)
|
rs796051995
|
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.388T>C (p.Tyr130His)
|
rs372670428
|
0.00001
|
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter)
|
rs121918241
|
0.00001
|
NM_015506.3(MMACHC):c.434T>C (p.Ile145Thr)
|
rs759921519
|
0.00001
|
NM_015506.3(MMACHC):c.434dup (p.Ser146fs)
|
rs768978351
|
0.00001
|
NM_015506.3(MMACHC):c.548T>C (p.Val183Ala)
|
rs780926592
|
0.00001
|
NM_015506.3(MMACHC):c.567dup (p.Ile190fs)
|
rs1463495909
|
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.1160T>G (p.Leu387Arg)
|
rs745554539
|
0.00001
|
NM_015662.3(IFT172):c.1295G>A (p.Arg432His)
|
rs1327376049
|
0.00001
|
NM_015662.3(IFT172):c.1314C>G (p.Pro438=)
|
rs1435972299
|
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.1525-1G>A
|
rs370540673
|
0.00001
|
NM_015662.3(IFT172):c.1609G>A (p.Val537Met)
|
rs868020223
|
0.00001
|
NM_015662.3(IFT172):c.167A>C (p.Lys56Thr)
|
rs780205001
|
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.1929T>C (p.Ile643=)
|
rs375541145
|
0.00001
|
NM_015662.3(IFT172):c.2025C>T (p.Gly675=)
|
rs762659921
|
0.00001
|
NM_015662.3(IFT172):c.2155C>T (p.His719Tyr)
|
rs144645349
|
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.2308A>G (p.Ile770Val)
|
rs145926013
|
0.00001
|
NM_015662.3(IFT172):c.2536C>T (p.Arg846Ter)
|
rs761095604
|
0.00001
|
NM_015662.3(IFT172):c.2695G>A (p.Ala899Thr)
|
rs776148073
|
0.00001
|
NM_015662.3(IFT172):c.270C>A (p.Ile90=)
|
rs759058747
|
0.00001
|
NM_015662.3(IFT172):c.2765dup (p.Tyr922Ter)
|
rs750338419
|
0.00001
|
NM_015662.3(IFT172):c.2796G>A (p.Glu932=)
|
rs566830176
|
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.2998C>G (p.Pro1000Ala)
|
rs569281478
|
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.3244G>A (p.Gly1082Arg)
|
rs1008321384
|
0.00001
|
NM_015662.3(IFT172):c.3368A>G (p.Asn1123Ser)
|
rs146615936
|
0.00001
|
NM_015662.3(IFT172):c.337-11C>T
|
rs745921292
|
0.00001
|
NM_015662.3(IFT172):c.3530+11C>G
|
rs777469179
|
0.00001
|
NM_015662.3(IFT172):c.354G>A (p.Leu118=)
|
rs757988462
|
0.00001
|
NM_015662.3(IFT172):c.3622C>T (p.Arg1208Trp)
|
rs779395435
|
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.3793G>T (p.Glu1265Ter)
|
rs999731005
|
0.00001
|
NM_015662.3(IFT172):c.3924C>T (p.Ser1308=)
|
rs764778967
|
0.00001
|
NM_015662.3(IFT172):c.4014A>G (p.Val1338=)
|
rs527544045
|
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.4095C>T (p.Ile1365=)
|
rs747729113
|
0.00001
|
NM_015662.3(IFT172):c.4134G>A (p.Lys1378=)
|
rs1039315733
|
0.00001
|
NM_015662.3(IFT172):c.421A>G (p.Lys141Glu)
|
rs760582917
|
0.00001
|
NM_015662.3(IFT172):c.4351A>G (p.Thr1451Ala)
|
rs761701917
|
0.00001
|
NM_015662.3(IFT172):c.4519C>T (p.Arg1507Ter)
|
rs150246251
|
0.00001
|
NM_015662.3(IFT172):c.4539+11G>A
|
rs756814532
|
0.00001
|
NM_015662.3(IFT172):c.4588G>A (p.Glu1530Lys)
|
rs764604255
|
0.00001
|
NM_015662.3(IFT172):c.4630C>T (p.Arg1544Cys)
|
rs587777079
|
0.00001
|
NM_015662.3(IFT172):c.4677G>C (p.Arg1559Ser)
|
rs777980611
|
0.00001
|
NM_015662.3(IFT172):c.4908T>G (p.His1636Gln)
|
rs201840472
|
0.00001
|
NM_015662.3(IFT172):c.4937G>A (p.Arg1646Gln)
|
rs549415233
|
0.00001
|
NM_015662.3(IFT172):c.4991G>A (p.Arg1664Gln)
|
rs749884570
|
0.00001
|
NM_015662.3(IFT172):c.5059C>T (p.Leu1687Phe)
|
rs917873749
|
0.00001
|
NM_015662.3(IFT172):c.5124C>A (p.Asn1708Lys)
|
rs868748622
|
0.00001
|
NM_015662.3(IFT172):c.5149A>C (p.Met1717Leu)
|
rs146309780
|
0.00001
|
NM_015702.3(MMADHC):c.742C>T (p.Arg248Cys)
|
rs544727246
|
0.00001
|
NM_016335.6(PRODH):c.1615+1G>C
|
rs745902339
|
0.00001
|
NM_016373.4(WWOX):c.59C>T (p.Pro20Leu)
|
rs761638116
|
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.1365G>A (p.Arg455=)
|
rs774554415
|
0.00001
|
NM_017739.4(POMGNT1):c.652+5C>T
|
rs771669680
|
0.00001
|
NM_020166.5(MCCC1):c.1261C>T (p.Arg421Trp)
|
rs764744442
|
0.00001
|
NM_020166.5(MCCC1):c.1703A>G (p.Tyr568Cys)
|
rs1577245387
|
0.00001
|
NM_020166.5(MCCC1):c.1772G>A (p.Ser591Asn)
|
rs569721834
|
0.00001
|
NM_020166.5(MCCC1):c.640-2A>G
|
rs772395858
|
0.00001
|
NM_020166.5(MCCC1):c.793C>T (p.His265Tyr)
|
rs767642062
|
0.00001
|
NM_020208.4(SLC6A20):c.512C>T (p.Ala171Val)
|
rs781203780
|
0.00001
|
NM_020949.3(SLC7A14):c.1515C>T (p.Asn505=)
|
rs199942498
|
0.00001
|
NM_022132.5(MCCC2):c.464G>A (p.Arg155Gln)
|
rs119103220
|
0.00001
|
NM_022367.4(SEMA4A):c.1685C>T (p.Pro562Leu)
|
rs780625142
|
0.00001
|
NM_025136.4(OPA3):c.123C>G (p.Ile41Met)
|
rs763083098
|
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.117+17G>T
|
rs201119943
|
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.1530T>G (p.Val510=)
|
rs545597883
|
0.00001
|
NM_031885.5(BBS2):c.1555C>G (p.Leu519Val)
|
rs374028829
|
0.00001
|
NM_031885.5(BBS2):c.175C>T (p.Gln59Ter)
|
rs121908176
|
0.00001
|
NM_031885.5(BBS2):c.1808A>G (p.Tyr603Cys)
|
rs752749569
|
0.00001
|
NM_031885.5(BBS2):c.1814C>G (p.Ser605Ter)
|
rs201063733
|
0.00001
|
NM_031885.5(BBS2):c.1864C>T (p.Arg622Ter)
|
rs201196733
|
0.00001
|
NM_031885.5(BBS2):c.1891G>A (p.Ala631Thr)
|
rs771822557
|
0.00001
|
NM_031885.5(BBS2):c.1986dup (p.Asn663Ter)
|
rs1597001788
|
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.563del (p.Ile188fs)
|
rs1367927635
|
0.00001
|
NM_031885.5(BBS2):c.612+14C>G
|
rs770986334
|
0.00001
|
NM_031885.5(BBS2):c.700C>T (p.Arg234Ter)
|
rs779690256
|
0.00001
|
NM_031885.5(BBS2):c.810T>C (p.Asp270=)
|
rs1309546092
|
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_054012.4(ASS1):c.1088G>A (p.Arg363Gln)
|
rs771937610
|
0.00001
|
NM_054012.4(ASS1):c.835C>T (p.Arg279Ter)
|
rs121908645
|
0.00001
|
NM_054012.4(ASS1):c.970+5G>A
|
rs372128852
|
0.00001
|
NM_144596.4(TTC8):c.1133T>C (p.Met378Thr)
|
rs1003053014
|
0.00001
|
NM_144596.4(TTC8):c.114+12C>A
|
rs372634452
|
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.452T>A (p.Ile151Asn)
|
rs774233751
|
0.00001
|
NM_144596.4(TTC8):c.711-16A>C
|
rs747396066
|
0.00001
|
NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys)
|
rs121908285
|
0.00001
|
NM_152419.3(HGSNAT):c.1128G>A (p.Ser376=)
|
rs770462636
|
0.00001
|
NM_152419.3(HGSNAT):c.1264C>T (p.Pro422Ser)
|
rs538620581
|
0.00001
|
NM_152419.3(HGSNAT):c.1348del (p.Asp450fs)
|
rs771455190
|
0.00001
|
NM_152419.3(HGSNAT):c.1464+1G>A
|
rs398124545
|
0.00001
|
NM_152419.3(HGSNAT):c.234+1G>A
|
rs483352908
|
0.00001
|
NM_152419.3(HGSNAT):c.848C>T (p.Pro283Leu)
|
rs121908282
|
0.00001
|
NM_172250.3(MMAA):c.833G>A (p.Gly278Asp)
|
rs761964238
|
0.00001
|
NM_174878.3(CLRN1):c.406G>A (p.Gly136Arg)
|
rs904836940
|
0.00001
|
NM_174878.3(CLRN1):c.619C>T (p.Arg207Ter)
|
rs373208120
|
0.00001
|
NM_177550.5(SLC13A5):c.1541T>C (p.Val514Ala)
|
rs776701159
|
0.00001
|
NM_177965.4(CFAP418):c.134C>G (p.Ala45Gly)
|
rs1197547920
|
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_183050.4(BCKDHB):c.119C>T (p.Ala40Val)
|
rs752892659
|
0.00001
|
NM_183050.4(BCKDHB):c.529T>C (p.Cys177Arg)
|
rs398124583
|
0.00001
|
NM_201253.3(CRB1):c.1206T>C (p.Ser402=)
|
rs373229699
|
0.00001
|
NM_201253.3(CRB1):c.127T>C (p.Ser43Pro)
|
rs1254919944
|
0.00001
|
NM_201253.3(CRB1):c.1507A>G (p.Thr503Ala)
|
rs375590765
|
0.00001
|
NM_201253.3(CRB1):c.1732G>C (p.Val578Leu)
|
rs769859765
|
0.00001
|
NM_201253.3(CRB1):c.1831T>C (p.Ser611Pro)
|
rs769909288
|
0.00001
|
NM_201253.3(CRB1):c.2677-343G>A
|
rs760861776
|
0.00001
|
NM_201253.3(CRB1):c.2823G>A (p.Pro941=)
|
rs62645757
|
0.00001
|
NM_201253.3(CRB1):c.3149G>A (p.Arg1050Lys)
|
rs1482942636
|
0.00001
|
NM_201253.3(CRB1):c.3936C>G (p.Cys1312Trp)
|
rs1665481687
|
0.00001
|
NM_201253.3(CRB1):c.635G>T (p.Cys212Phe)
|
rs1658699227
|
0.00001
|
NM_201253.3(CRB1):c.976C>T (p.His326Tyr)
|
rs773386179
|
0.00001
|
NM_201548.5(CERKL):c.1034G>A (p.Arg345Gln)
|
rs727503856
|
0.00001
|
NM_201548.5(CERKL):c.1074-1G>C
|
rs927261937
|
0.00001
|
NM_201548.5(CERKL):c.1303C>T (p.Arg435Ter)
|
rs1187839124
|
0.00001
|
NM_205861.3(DHDDS):c.139C>T (p.Arg47Trp)
|
rs750366746
|
0.00001
|
NM_205861.3(DHDDS):c.440A>G (p.Lys147Arg)
|
rs201280820
|
0.00001
|
NM_205861.3(DHDDS):c.658-2A>G
|
rs1248671884
|
0.00001
|
NM_206933.4(USH2A):c.10182+5T>C
|
rs1049628868
|
0.00001
|
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met)
|
rs202175091
|
0.00001
|
NM_206933.4(USH2A):c.10724G>A (p.Cys3575Tyr)
|
rs111033265
|
0.00001
|
NM_206933.4(USH2A):c.11206G>A (p.Asp3736Asn)
|
rs1373104511
|
0.00001
|
NM_206933.4(USH2A):c.11754G>A (p.Trp3918Ter)
|
rs1358947010
|
0.00001
|
NM_206933.4(USH2A):c.12067-2A>G
|
rs397517978
|
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.12560G>A (p.Arg4187His)
|
rs147304271
|
0.00001
|
NM_206933.4(USH2A):c.12967C>T (p.Leu4323Phe)
|
rs750512832
|
0.00001
|
NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile)
|
rs753330544
|
0.00001
|
NM_206933.4(USH2A):c.13422C>G (p.Ile4474Met)
|
rs1453273341
|
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.14153C>A (p.Ala4718Glu)
|
rs201631375
|
0.00001
|
NM_206933.4(USH2A):c.14194C>T (p.Pro4732Ser)
|
rs55838724
|
0.00001
|
NM_206933.4(USH2A):c.14542C>T (p.Arg4848Trp)
|
rs757728612
|
0.00001
|
NM_206933.4(USH2A):c.14803C>T (p.Arg4935Ter)
|
rs146733615
|
0.00001
|
NM_206933.4(USH2A):c.1481A>G (p.Tyr494Cys)
|
rs898430789
|
0.00001
|
NM_206933.4(USH2A):c.14914C>T (p.Arg4972Cys)
|
rs766759858
|
0.00001
|
NM_206933.4(USH2A):c.1841-2A>G
|
rs397518003
|
0.00001
|
NM_206933.4(USH2A):c.1876C>T (p.Arg626Ter)
|
rs534534437
|
0.00001
|
NM_206933.4(USH2A):c.2139C>T (p.Gly713=)
|
rs765293412
|
0.00001
|
NM_206933.4(USH2A):c.2296T>C (p.Cys766Arg)
|
rs368687374
|
0.00001
|
NM_206933.4(USH2A):c.232T>G (p.Phe78Val)
|
rs775094277
|
0.00001
|
NM_206933.4(USH2A):c.2776C>T (p.Arg926Cys)
|
rs749621457
|
0.00001
|
NM_206933.4(USH2A):c.4070C>T (p.Thr1357Met)
|
rs201190539
|
0.00001
|
NM_206933.4(USH2A):c.4378G>A (p.Gly1460Arg)
|
rs139311927
|
0.00001
|
NM_206933.4(USH2A):c.5329C>T (p.Arg1777Trp)
|
rs770329105
|
0.00001
|
NM_206933.4(USH2A):c.5443A>G (p.Ser1815Gly)
|
rs940913250
|
0.00001
|
NM_206933.4(USH2A):c.5776+1G>A
|
rs876657731
|
0.00001
|
NM_206933.4(USH2A):c.6967C>T (p.Arg2323Ter)
|
rs1485173724
|
0.00001
|
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe)
|
rs41315579
|
0.00001
|
NM_206933.4(USH2A):c.8021C>A (p.Thr2674Asn)
|
rs754677752
|
0.00001
|
NM_206933.4(USH2A):c.8557A>T (p.Arg2853Ter)
|
rs749452910
|
0.00001
|
NM_206933.4(USH2A):c.9258+1G>A
|
rs748810737
|
0.00001
|
NM_206933.4(USH2A):c.9433C>T (p.Leu3145Phe)
|
rs267598373
|
0.00001
|
NM_206933.4(USH2A):c.9469C>T (p.Gln3157Ter)
|
rs772100045
|
0.00001
|
GRCh37/hg19 17p13.2(chr17:3539741-3561489)
|
|
|
GRCh37/hg19 1p34.1(chr1:45965972-45979054)
|
|
|
GRCh37/hg19 22q11.21(chr22:18900294-18923806)
|
|
|
GRCh37/hg19 22q11.21(chr22:18900895-18923882)
|
|
|
GRCh37/hg19 2p21(chr2:44507834-44508700)
|
|
|
GRCh37/hg19 2p21(chr2:44527089-44541110)
|
|
|
NM_000016.6(ACADM):c.1102_1105del (p.Ala369fs)
|
rs387906297
|
|
NM_000016.6(ACADM):c.397ATT[2] (p.Ile135del)
|
rs1570866192
|
|
NM_000016.6(ACADM):c.542A>G (p.Asp181Gly)
|
rs1553123872
|
|
NM_000016.6(ACADM):c.608T>A (p.Leu203Ter)
|
rs1486350523
|
|
NM_000016.6(ACADM):c.881G>C (p.Arg294Thr)
|
rs779759347
|
|
NM_000017.4(ACADS):c.1054G>A (p.Ala352Thr)
|
rs202078273
|
|
NM_000017.4(ACADS):c.203C>T (p.Ala68Val)
|
rs148789330
|
|
NM_000017.4(ACADS):c.307GAG[1] (p.Glu104del)
|
rs387906308
|
|
NM_000018.4(ACADVL):c.1022G>C (p.Arg341Thr)
|
rs1064793382
|
|
NM_000018.4(ACADVL):c.1147C>G (p.Leu383Val)
|
rs756194870
|
|
NM_000018.4(ACADVL):c.1941G>A (p.Val647=)
|
rs2142991254
|
|
NM_000018.4(ACADVL):c.215C>T (p.Ser72Phe)
|
rs1161495077
|
|
NM_000018.4(ACADVL):c.385GAG[1] (p.Glu130del)
|
rs387906251
|
|
NM_000018.4(ACADVL):c.652G>A (p.Glu218Lys)
|
rs1432183079
|
|
NM_000018.4(ACADVL):c.65C>G (p.Ser22Trp)
|
rs727503788
|
|
NM_000018.4(ACADVL):c.708_709del (p.Cys237fs)
|
rs1555528304
|
|
NM_000019.4(ACAT1):c.239-8del
|
rs201199156
|
|
NM_000019.4(ACAT1):c.261dup (p.Glu88fs)
|
rs1201662412
|
|
NM_000019.4(ACAT1):c.571del (p.Ile191fs)
|
rs761038005
|
|
NM_000019.4(ACAT1):c.824del (p.Asn275fs)
|
rs1163072872
|
|
NM_000026.4(ADSL):c.271C>T (p.His91Tyr)
|
rs755518176
|
|
NM_000045.4(ARG1):c.665+2T>C
|
rs113645893
|
|
NM_000048.4(ASL):c.656-3dup
|
rs778811159
|
|
NM_000048.4(ASL):c.916C>T (p.Arg306Trp)
|
rs868834862
|
|
NM_000071.3(CBS):c.1080_1081delinsTA (p.Ala361Thr)
|
rs1555873407
|
|
NM_000071.3(CBS):c.19dup (p.Gln7fs)
|
rs748695461
|
|
NM_000071.3(CBS):c.253G>A (p.Gly85Arg)
|
rs863223435
|
|
NM_000071.3(CBS):c.362G>T (p.Arg121Leu)
|
rs770095972
|
|
NM_000071.3(CBS):c.622T>C (p.Trp208Arg)
|
rs1060500683
|
|
NM_000071.3(CBS):c.667-14_667-7del
|
rs764160782
|
|
NM_000071.3(CBS):c.671G>T (p.Arg224Leu)
|
rs761647392
|
|
NM_000071.3(CBS):c.752T>C (p.Leu251Pro)
|
rs1176770868
|
|
NM_000071.3(CBS):c.887C>T (p.Thr296Met)
|
rs562530775
|
|
NM_000108.5(DLD):c.1528T>C (p.Ter510Arg)
|
rs1554400769
|
|
NM_000126.4(ETFA):c.963+1del
|
rs746488455
|
|
NM_000137.4(FAH):c.191del (p.Gln64fs)
|
rs2142090831
|
|
NM_000137.4(FAH):c.2T>A (p.Met1Lys)
|
rs1057516934
|
|
NM_000137.4(FAH):c.456G>A (p.Trp152Ter)
|
rs370686447
|
|
NM_000137.4(FAH):c.606+1G>A
|
rs773450608
|
|
NM_000156.6(GAMT):c.299_311dup (p.Arg105fs)
|
rs80338736
|
|
NM_000156.6(GAMT):c.307del (p.Ala103fs)
|
rs2082622867
|
|
NM_000156.6(GAMT):c.463C>G (p.His155Asp)
|
rs1374777721
|
|
NM_000156.6(GAMT):c.509A>G (p.Asn170Ser)
|
rs202199674
|
|
NM_000156.6(GAMT):c.578A>G (p.Gln193Arg)
|
rs2082607477
|
|
NM_000156.6(GAMT):c.650C>A (p.Pro217Gln)
|
rs139890971
|
|
NM_000159.4(GCDH):c.1205G>A (p.Arg402Gln)
|
rs786204626
|
|
NM_000159.4(GCDH):c.262C>T (p.Arg88Cys)
|
rs142967670
|
|
NM_000159.4(GCDH):c.263G>A (p.Arg88His)
|
rs1970568682
|
|
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.281G>T (p.Arg94Leu)
|
rs566417795
|
|
NM_000159.4(GCDH):c.636-4_639del
|
rs775103982
|
|
NM_000159.4(GCDH):c.675G>A (p.Trp225Ter)
|
rs786205862
|
|
NM_000161.3(GCH1):c.16G>T (p.Val6Leu)
|
rs1413964407
|
|
NM_000170.3(GLDC):c.1108C>T (p.Gln370Ter)
|
rs570097430
|
|
NM_000170.3(GLDC):c.1484_1489del
|
rs778109389
|
|
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser)
|
rs121964976
|
|
NM_000170.3(GLDC):c.210T>C (p.Pro70=)
|
rs1170354400
|
|
NM_000170.3(GLDC):c.2315+2T>A
|
rs1554643738
|
|
NM_000170.3(GLDC):c.2316-6dup
|
rs3215923
|
|
NM_000170.3(GLDC):c.2481_2484del (p.Gln828fs)
|
rs766762760
|
|
NM_000170.3(GLDC):c.2482C>T (p.Gln828Ter)
|
rs1209943477
|
|
NM_000170.3(GLDC):c.2838+2T>C
|
rs1554641887
|
|
NM_000170.3(GLDC):c.2838+5G>A
|
rs386833568
|
|
NM_000170.3(GLDC):c.334+1G>T
|
rs978795483
|
|
NM_000170.3(GLDC):c.492C>G (p.Tyr164Ter)
|
rs746124283
|
|
NM_000170.3(GLDC):c.861+5G>C
|
rs192663616
|
|
NM_000182.5(HADHA):c.1059del (p.Lys353fs)
|
rs1227493628
|
|
NM_000182.5(HADHA):c.157C>A (p.Arg53=)
|
rs147103714
|
|
NM_000182.5(HADHA):c.1969G>T (p.Ala657Ser)
|
rs374174659
|
|
NM_000182.5(HADHA):c.1981_1999del (p.Leu661fs)
|
rs749848370
|
|
NM_000182.5(HADHA):c.2273_2276dup (p.Lys760fs)
|
rs1553311633
|
|
NM_000182.5(HADHA):c.914T>A (p.Ile305Asn)
|
rs137852774
|
|
NM_000182.5(HADHA):c.966_967del (p.Cys322_Glu323delinsTer)
|
rs2147768516
|
|
NM_000187.4(HGD):c.1017_1019delinsTA (p.Met339fs)
|
rs1057517081
|
|
NM_000187.4(HGD):c.1111dup (p.His371fs)
|
rs397515516
|
|
NM_000187.4(HGD):c.1120G>C (p.Asp374His)
|
rs981454067
|
|
NM_000187.4(HGD):c.283-5del
|
rs777429123
|
|
NM_000187.4(HGD):c.343-11G>A
|
rs143223637
|
|
NM_000187.4(HGD):c.343-6T>A
|
rs753344566
|
|
NM_000187.4(HGD):c.360T>G (p.Cys120Trp)
|
rs149165166
|
|
NM_000187.4(HGD):c.457dup (p.Asp153fs)
|
rs397515346
|
|
NM_000188.3(HK1):c.1370C>T (p.Thr457Met)
|
rs1057517928
|
|
NM_000191.3(HMGCL):c.20C>G (p.Ala7Gly)
|
rs754437215
|
|
NM_000254.3(MTR):c.1348_1349inv (p.Ser450Asp)
|
|
|
NM_000254.3(MTR):c.2640_2642del (p.Ile881del)
|
rs797044443
|
|
NM_000255.4(MMUT):c.-35G>T
|
rs483352795
|
|
NM_000255.4(MMUT):c.1032TCT[2] (p.Leu347del)
|
rs765373403
|
|
NM_000255.4(MMUT):c.1092_1114del (p.Asn365fs)
|
rs1476515561
|
|
NM_000255.4(MMUT):c.1159A>C (p.Thr387Pro)
|
rs1767556193
|
|
NM_000255.4(MMUT):c.1230CAT[1] (p.Ile412del)
|
rs1767553642
|
|
NM_000255.4(MMUT):c.1332+1del
|
rs771542321
|
|
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.1445-2A>G
|
rs398123276
|
|
NM_000255.4(MMUT):c.1663G>A (p.Ala555Thr)
|
rs753564352
|
|
NM_000255.4(MMUT):c.1670G>A (p.Arg557Gln)
|
rs756389945
|
|
NM_000255.4(MMUT):c.188C>T (p.Thr63Ile)
|
rs1767776360
|
|
NM_000255.4(MMUT):c.1956+2T>C
|
rs750619189
|
|
NM_000255.4(MMUT):c.1975C>T (p.Gln659Ter)
|
rs879253848
|
|
NM_000255.4(MMUT):c.2194_2197delinsTGGAA (p.Ala732fs)
|
rs879253851
|
|
NM_000255.4(MMUT):c.29del (p.Leu10fs)
|
rs1437477079
|
|
NM_000255.4(MMUT):c.312del (p.Trp105fs)
|
rs1064793768
|
|
NM_000255.4(MMUT):c.360dup (p.Lys121Ter)
|
rs1554160919
|
|
NM_000255.4(MMUT):c.566A>T (p.Asn189Ile)
|
rs200908035
|
|
NM_000255.4(MMUT):c.670G>T (p.Glu224Ter)
|
rs1554160638
|
|
NM_000255.4(MMUT):c.693C>G (p.Tyr231Ter)
|
rs879253834
|
|
NM_000255.4(MMUT):c.733A>G (p.Ile245Val)
|
rs754464973
|
|
NM_000255.4(MMUT):c.753+2T>A
|
rs796052006
|
|
NM_000255.4(MMUT):c.754-7del
|
rs750770186
|
|
NM_000255.4(MMUT):c.88C>T (p.Gln30Ter)
|
rs879253824
|
|
NM_000255.4(MMUT):c.970G>A (p.Ala324Thr)
|
rs780387525
|
|
NM_000274.4(OAT):c.1118G>A (p.Gly373Glu)
|
rs386833595
|
|
NM_000274.4(OAT):c.159del (p.His53fs)
|
rs386833599
|
|
NM_000274.4(OAT):c.614A>G (p.Asp205Gly)
|
rs375157197
|
|
NM_000274.4(OAT):c.824G>A (p.Trp275Ter)
|
rs267606924
|
|
NM_000274.4(OAT):c.97dup (p.Thr33fs)
|
rs1375779674
|
|
NM_000276.4(OCRL):c.1244+1G>A
|
rs1936163310
|
|
NM_000276.4(OCRL):c.200-11dup
|
rs765652296
|
|
NM_000276.4(OCRL):c.2530C>T (p.Arg844Ter)
|
rs387906484
|
|
NM_000276.4(OCRL):c.561G>A (p.Met187Ile)
|
rs916507337
|
|
NM_000276.4(OCRL):c.953G>A (p.Arg318His)
|
rs2124405779
|
|
NM_000277.3(PAH):c.1049C>A (p.Ser350Tyr)
|
rs62508628
|
|
NM_000277.3(PAH):c.1074A>T (p.Leu358Phe)
|
rs376480977
|
|
NM_000277.3(PAH):c.1089del (p.Lys363fs)
|
rs5030654
|
|
NM_000277.3(PAH):c.1114A>T (p.Thr372Ser)
|
rs62517163
|
|
NM_000277.3(PAH):c.1120A>G (p.Ile374Val)
|
rs769076484
|
|
NM_000277.3(PAH):c.113TCT[1] (p.Phe39del)
|
rs199475565
|
|
NM_000277.3(PAH):c.1197A>T (p.Val399=)
|
rs199475584
|
|
NM_000277.3(PAH):c.1199+1G>C
|
rs62509015
|
|
NM_000277.3(PAH):c.1315+2T>C
|
rs1799970
|
|
NM_000277.3(PAH):c.168G>A (p.Glu56=)
|
rs199475567
|
|
NM_000277.3(PAH):c.168_168+1delinsAA
|
rs786204457
|
|
NM_000277.3(PAH):c.355C>T (p.Pro119Ser)
|
rs398123292
|
|
NM_000277.3(PAH):c.439C>T (p.Pro147Ser)
|
rs199475624
|
|
NM_000277.3(PAH):c.482T>C (p.Phe161Ser)
|
rs79635844
|
|
NM_000277.3(PAH):c.500A>T (p.Asn167Ile)
|
rs77554925
|
|
NM_000277.3(PAH):c.527G>T (p.Arg176Leu)
|
rs74486803
|
|
NM_000277.3(PAH):c.529G>A (p.Val177Met)
|
rs199475602
|
|
NM_000277.3(PAH):c.612T>G (p.Tyr204Ter)
|
rs62514928
|
|
NM_000277.3(PAH):c.650G>A (p.Cys217Tyr)
|
rs62508617
|
|
NM_000277.3(PAH):c.664_665del (p.Glu221_Asp222insTer)
|
rs62514936
|
|
NM_000277.3(PAH):c.712A>G (p.Thr238Ala)
|
rs199475577
|
|
NM_000277.3(PAH):c.722G>A (p.Arg241His)
|
rs62508730
|
|
NM_000277.3(PAH):c.754C>T (p.Arg252Trp)
|
rs5030847
|
|
NM_000277.3(PAH):c.805A>C (p.Ile269Leu)
|
rs62508692
|
|
NM_000277.3(PAH):c.806T>A (p.Ile269Asn)
|
rs199475644
|
|
NM_000277.3(PAH):c.844G>A (p.Asp282Asn)
|
rs199475582
|
|
NM_000282.4(PCCA):c.1138T>C (p.Tyr380His)
|
rs1303977643
|
|
NM_000282.4(PCCA):c.1330dup (p.Tyr444fs)
|
rs1595236063
|
|
NM_000282.4(PCCA):c.1716dup (p.Val573fs)
|
rs2152811869
|
|
NM_000282.4(PCCA):c.1899+4_1899+7del
|
rs794727334
|
|
NM_000282.4(PCCA):c.915-1G>C
|
rs367615795
|
|
NM_000282.4(PCCA):c.923dup (p.Leu308fs)
|
rs573607437
|
|
NM_000283.4(PDE6B):c.2193+1G>A
|
rs727504075
|
|
NM_000317.3(PTS):c.118T>C (p.Phe40Leu)
|
rs1555198118
|
|
NM_000317.3(PTS):c.259C>T (p.Pro87Ser)
|
rs104894276
|
|
NM_000317.3(PTS):c.308T>C (p.Val103Ala)
|
rs1555198459
|
|
NM_000320.3(QDPR):c.296-15G>T
|
rs776479029
|
|
NM_000320.3(QDPR):c.662G>A (p.Arg221Gln)
|
rs1478668973
|
|
NM_000322.5(PRPH2):c.483C>T (p.Ile161=)
|
rs76989855
|
|
NM_000329.3(RPE65):c.1450+13A>C
|
rs371783875
|
|
NM_000329.3(RPE65):c.246-11A>G
|
rs905365719
|
|
NM_000329.3(RPE65):c.440_441del (p.Thr147fs)
|
rs1201299067
|
|
NM_000341.4(SLC3A1):c.1603_1604del (p.Thr535fs)
|
rs767801148
|
|
NM_000341.4(SLC3A1):c.1617+1dup
|
rs2104385579
|
|
NM_000341.4(SLC3A1):c.1640C>T (p.Ser547Leu)
|
rs368796166
|
|
NM_000341.4(SLC3A1):c.166G>A (p.Glu56Lys)
|
rs886056067
|
|
NM_000341.4(SLC3A1):c.183C>T (p.Gly61=)
|
rs748832562
|
|
NM_000341.4(SLC3A1):c.24A>C (p.Arg8Ser)
|
rs376615998
|
|
NM_000341.4(SLC3A1):c.290T>C (p.Val97Ala)
|
rs147701210
|
|
NM_000341.4(SLC3A1):c.566C>A (p.Thr189Lys)
|
rs140317484
|
|
NM_000341.4(SLC3A1):c.685C>T (p.Arg229Trp)
|
rs758636942
|
|
NM_000341.4(SLC3A1):c.851A>T (p.Asp284Val)
|
rs933907652
|
|
NM_000350.3(ABCA4):c.160T>G (p.Cys54Gly)
|
rs886044720
|
|
NM_000350.3(ABCA4):c.1792G>A (p.Val598Met)
|
rs201838557
|
|
NM_000350.3(ABCA4):c.194G>A (p.Gly65Glu)
|
rs62654395
|
|
NM_000350.3(ABCA4):c.2828G>T (p.Arg943Leu)
|
rs1801581
|
|
NM_000350.3(ABCA4):c.2915C>A (p.Thr972Asn)
|
rs61749451
|
|
NM_000350.3(ABCA4):c.5044_5058del (p.Val1682_Val1686del)
|
rs62646872
|
|
NM_000350.3(ABCA4):c.5959_5964delinsTG (p.Thr1986_Gly1987insTer)
|
rs1659427600
|
|
NM_000350.3(ABCA4):c.6077T>C (p.Leu2026Pro)
|
rs886044758
|
|
NM_000350.3(ABCA4):c.6179T>G (p.Leu2060Arg)
|
rs61753039
|
|
NM_000350.3(ABCA4):c.6379T>C (p.Ser2127Pro)
|
rs2100993895
|
|
NM_000350.3(ABCA4):c.6729+5_6729+19del
|
rs749526785
|
|
NM_000360.4(TH):c.1228C>T (p.Arg410Trp)
|
rs575326605
|
|
NM_000360.4(TH):c.1318G>T (p.Ala440Ser)
|
rs374465917
|
|
NM_000360.4(TH):c.1380C>A (p.Asp460Glu)
|
rs748364426
|
|
NM_000360.4(TH):c.312+1G>A
|
rs1554923802
|
|
NM_000360.4(TH):c.344C>T (p.Thr115Ile)
|
rs756013579
|
|
NM_000360.4(TH):c.978-6G>A
|
rs75487597
|
|
NM_000372.5(TYR):c.1036+13T>A
|
rs1377064834
|
|
NM_000372.5(TYR):c.1392dup (p.Lys465Ter)
|
rs1555100853
|
|
NM_000440.3(PDE6A):c.1683G>A (p.Trp561Ter)
|
rs121918578
|
|
NM_000440.3(PDE6A):c.1689C>A (p.His563Gln)
|
rs776918069
|
|
NM_000440.3(PDE6A):c.999-2A>G
|
rs1753232409
|
|
NM_000481.4(AMT):c.452_466del (p.Lys151_Leu155del)
|
rs386833683
|
|
NM_000481.4(AMT):c.886C>T (p.Arg296Cys)
|
rs1056820947
|
|
NM_000481.4(AMT):c.982_983delinsT (p.Ala328fs)
|
rs386833692
|
|
NM_000481.4(AMT):c.987del (p.Met330fs)
|
rs1278265933
|
|
NM_000485.3(APRT):c.188G>A (p.Gly63Asp)
|
rs1909091672
|
|
NM_000485.3(APRT):c.280_286del (p.Gly94fs)
|
rs776240467
|
|
NM_000485.3(APRT):c.400+14C>T
|
rs373048958
|
|
NM_000485.3(APRT):c.439C>T (p.Gln147Ter)
|
rs745872435
|
|
NM_000531.6(OTC):c.29_32del (p.Asn10fs)
|
rs72552297
|
|
NM_000531.6(OTC):c.422G>A (p.Arg141Gln)
|
rs68026851
|
|
NM_000531.6(OTC):c.589G>A (p.Gly197Arg)
|
rs72556301
|
|
NM_000532.5(PCCB):c.1173dup (p.Val392fs)
|
rs587776758
|
|
NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs)
|
rs397507445
|
|
NM_000532.5(PCCB):c.1498+2T>C
|
rs879253816
|
|
NM_000532.5(PCCB):c.1540C>T (p.Arg514Ter)
|
rs749908889
|
|
NM_000532.5(PCCB):c.386_387delinsAAC (p.Phe129Ter)
|
rs398123463
|
|
NM_000532.5(PCCB):c.990dup (p.Glu331Ter)
|
rs786200983
|
|
NM_000539.3(RHO):c.68C>A (p.Pro23His)
|
rs104893768
|
|
NM_000709.4(BCKDHA):c.117del (p.Arg40fs)
|
rs398123489
|
|
NM_000709.4(BCKDHA):c.117dup (p.Arg40fs)
|
rs398123489
|
|
NM_000709.4(BCKDHA):c.495G>A (p.Met165Ile)
|
rs754327984
|
|
NM_000709.4(BCKDHA):c.718del (p.Ala240fs)
|
rs1555766993
|
|
NM_000709.4(BCKDHA):c.861_868del (p.Gly288fs)
|
rs794727847
|
|
NM_001003841.3(SLC6A19):c.1003G>A (p.Asp335Asn)
|
rs147646554
|
|
NM_001003841.3(SLC6A19):c.1173+2T>G
|
rs142979576
|
|
NM_001003841.3(SLC6A19):c.1325C>A (p.Pro442His)
|
rs1286047743
|
|
NM_001003841.3(SLC6A19):c.1431C>T (p.Ser477=)
|
rs755478742
|
|
NM_001003841.3(SLC6A19):c.1451T>C (p.Leu484Pro)
|
rs905741990
|
|
NM_001003841.3(SLC6A19):c.1599G>A (p.Thr533=)
|
rs112479136
|
|
NM_001003841.3(SLC6A19):c.202+12G>A
|
rs369314798
|
|
NM_001003841.3(SLC6A19):c.640C>G (p.Arg214Gly)
|
rs201070872
|
|
NM_001003841.3(SLC6A19):c.767C>T (p.Thr256Met)
|
rs375879452
|
|
NM_001003841.3(SLC6A19):c.95G>A (p.Arg32Gln)
|
rs190631924
|
|
NM_001017989.3(OPA3):c.414G>A (p.Ala138=)
|
rs566450630
|
|
NM_001017989.3(OPA3):c.445del (p.Leu149fs)
|
rs780299639
|
|
NM_001017989.3(OPA3):c.535delinsAA (p.Glu179fs)
|
rs1555730141
|
|
NM_001029883.3(PCARE):c.3058_3059delinsAG (p.Gln1020Arg)
|
rs796065322
|
|
NM_001029883.3(PCARE):c.8G>A (p.Cys3Tyr)
|
rs1420546201
|
|
NM_001034853.2(RPGR):c.2236_2237del (p.Glu746fs)
|
rs1555961852
|
|
NM_001034853.2(RPGR):c.2260G>T (p.Glu754Ter)
|
rs2067187550
|
|
NM_001034853.2(RPGR):c.2405_2406del (p.Glu802fs)
|
rs398122960
|
|
NM_001034853.2(RPGR):c.2691GGA[1] (p.Glu899del)
|
rs745428229
|
|
NM_001080.3(ALDH5A1):c.665del (p.Gly222fs)
|
rs1759308366
|
|
NM_001081.4(CUBN):c.10077G>C (p.Ser3359=)
|
rs147563157
|
|
NM_001081.4(CUBN):c.1036G>C (p.Val346Leu)
|
rs886046879
|
|
NM_001081.4(CUBN):c.10462C>T (p.Arg3488Ter)
|
rs201426128
|
|
NM_001081.4(CUBN):c.10729G>T (p.Ala3577Ser)
|
rs139051724
|
|
NM_001081.4(CUBN):c.1837G>C (p.Gly613Arg)
|
rs2131869531
|
|
NM_001081.4(CUBN):c.2673C>A (p.Cys891Ter)
|
rs386833778
|
|
NM_001081.4(CUBN):c.2791G>A (p.Ala931Thr)
|
rs1042319182
|
|
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.4069C>G (p.Pro1357Ala)
|
rs780012075
|
|
NM_001081.4(CUBN):c.4165del (p.Tyr1389fs)
|
rs774493547
|
|
NM_001081.4(CUBN):c.4212C>T (p.Ser1404=)
|
rs544694254
|
|
NM_001081.4(CUBN):c.4460_4464del (p.Arg1487fs)
|
rs770921101
|
|
NM_001081.4(CUBN):c.4689_4690delinsAT (p.Cys1563_Ile1564delinsTer)
|
rs2131697094
|
|
NM_001081.4(CUBN):c.4720A>G (p.Met1574Val)
|
rs1482983523
|
|
NM_001081.4(CUBN):c.4934A>G (p.Gln1645Arg)
|
rs1243565121
|
|
NM_001081.4(CUBN):c.4973del (p.Asn1658fs)
|
rs1588511533
|
|
NM_001081.4(CUBN):c.5305G>A (p.Val1769Ile)
|
rs74116778
|
|
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.5911C>A (p.Pro1971Thr)
|
rs2356590
|
|
NM_001081.4(CUBN):c.5965G>A (p.Val1989Met)
|
rs368951850
|
|
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.6928_6934del (p.Glu2310fs)
|
rs757649673
|
|
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.7916A>T (p.Asp2639Val)
|
rs2131430542
|
|
NM_001081.4(CUBN):c.796G>T (p.Glu266Ter)
|
rs1161400848
|
|
NM_001081.4(CUBN):c.8273C>T (p.Pro2758Leu)
|
rs2131420669
|
|
NM_001081.4(CUBN):c.8578T>G (p.Cys2860Gly)
|
rs138719573
|
|
NM_001102564.3(IFT43):c.147+18dup
|
rs747593685
|
|
NM_001102564.3(IFT43):c.322G>A (p.Glu108Lys)
|
rs776120367
|
|
NM_001102564.3(IFT43):c.369-8del
|
rs536027245
|
|
NM_001102564.3(IFT43):c.91G>C (p.Ala31Pro)
|
rs1330242492
|
|
NM_001126105.2(SLC7A7):c.1005_1008del (p.Phe335Leufs)
|
rs386833794
|
|
NM_001127222.2(CACNA1A):c.1170T>A (p.Asn390Lys)
|
rs768768744
|
|
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)
|
|
|
NM_001127222.2(CACNA1A):c.2924G>T (p.Arg975Leu)
|
rs748418783
|
|
NM_001127222.2(CACNA1A):c.2993G>A (p.Gly998Glu)
|
rs2057721231
|
|
NM_001127222.2(CACNA1A):c.3410C>G (p.Pro1137Arg)
|
rs200333359
|
|
NM_001127222.2(CACNA1A):c.3601AAG[1] (p.Lys1202del)
|
rs772989979
|
|
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln)
|
rs1057520918
|
|
NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter)
|
rs121909324
|
|
NM_001127222.2(CACNA1A):c.5880G>A (p.Met1960Ile)
|
rs1085307557
|
|
NM_001127222.2(CACNA1A):c.593G>A (p.Arg198Gln)
|
rs797045424
|
|
NM_001127222.2(CACNA1A):c.6466C>T (p.Arg2156Cys)
|
rs554393704
|
|
NM_001127222.2(CACNA1A):c.6937CAG[12] (p.Gln2325del)
|
rs16054
|
|
NM_001127222.2(CACNA1A):c.6937CAG[14] (p.Gln2325dup)
|
rs16054
|
|
NM_001127222.2(CACNA1A):c.6937CAG[15] (p.Gln2324_Gln2325dup)
|
rs16054
|
|
NM_001127222.2(CACNA1A):c.6937CAG[7] (p.Gln2320_Gln2325del)
|
rs16054
|
|
NM_001142800.2(EYS):c.1961dup (p.Asn654fs)
|
rs749103801
|
|
NM_001142800.2(EYS):c.2000G>A (p.Arg667His)
|
rs549456693
|
|
NM_001142800.2(EYS):c.2194C>T (p.Gln732Ter)
|
rs794727120
|
|
NM_001142800.2(EYS):c.2976T>A (p.Cys992Ter)
|
rs1554214453
|
|
NM_001142800.2(EYS):c.3024C>A (p.Cys1008Ter)
|
rs1764939836
|
|
NM_001142800.2(EYS):c.3164+8dup
|
rs201012275
|
|
NM_001142800.2(EYS):c.3634T>C (p.Cys1212Arg)
|
rs536260976
|
|
NM_001142800.2(EYS):c.403_423delinsCTTTT (p.Thr135fs)
|
rs1582376398
|
|
NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs)
|
rs761238771
|
|
NM_001142800.2(EYS):c.525_527del (p.Glu176del)
|
rs780433094
|
|
NM_001142800.2(EYS):c.6934C>T (p.Leu2312Phe)
|
rs564315274
|
|
NM_001142800.2(EYS):c.749-1G>C
|
rs368159852
|
|
NM_001142800.2(EYS):c.7826G>C (p.Cys2609Ser)
|
rs755966517
|
|
NM_001142800.2(EYS):c.8133_8137del (p.Phe2712fs)
|
rs751629543
|
|
NM_001142800.2(EYS):c.8830del (p.Val2944fs)
|
rs776526721
|
|
NM_001142800.2(EYS):c.9286_9295del (p.Val3096fs)
|
rs770748359
|
|
NM_001142800.2(EYS):c.9299_9302del (p.Thr3100fs)
|
rs769824975
|
|
NM_001142800.2(EYS):c.953A>C (p.Tyr318Ser)
|
rs772989862
|
|
NM_001195794.1(CLRN1):c.149_152delinsTGTCCAAT (p.Ser50fs)
|
rs786204428
|
|
NM_001201543.2(FAM161A):c.1355_1356del (p.Thr452fs)
|
rs397704718
|
|
NM_001201543.2(FAM161A):c.1484G>A (p.Arg495His)
|
rs201998260
|
|
NM_001201543.2(FAM161A):c.1490C>G (p.Ser497Ter)
|
rs2105080547
|
|
NM_001201543.2(FAM161A):c.847C>T (p.Arg283Ter)
|
rs748847284
|
|
NM_001243279.3(ACSF3):c.-8T>A
|
rs1210097201
|
|
NM_001243279.3(ACSF3):c.1446_1447del (p.Tyr482_Lys483delinsTer)
|
rs1064793662
|
|
NM_001243279.3(ACSF3):c.1673G>C (p.Arg558Pro)
|
rs140328142
|
|
NM_001243279.3(ACSF3):c.583A>T (p.Lys195Ter)
|
rs1366314967
|
|
NM_001243279.3(ACSF3):c.628A>C (p.Lys210Gln)
|
rs538548478
|
|
NM_001243279.3(ACSF3):c.667-9C>T
|
rs369865917
|
|
NM_001243279.3(ACSF3):c.891C>A (p.Tyr297Ter)
|
rs2151444797
|
|
NM_001271.4(CHD2):c.2536C>T (p.Arg846Ter)
|
rs2141839141
|
|
NM_001271.4(CHD2):c.2973G>A (p.Gln991=)
|
rs903186613
|
|
NM_001271.4(CHD2):c.3126C>T (p.Asp1042=)
|
rs150268140
|
|
NM_001271.4(CHD2):c.340C>T (p.Arg114Ter)
|
rs1057518128
|
|
NM_001278064.2(GRM1):c.2007G>T (p.Ala669=)
|
rs148926588
|
|
NM_001278064.2(GRM1):c.2364G>C (p.Ala788=)
|
rs114187147
|
|
NM_001278064.2(GRM1):c.829C>A (p.Leu277Ile)
|
rs1022097029
|
|
NM_001278293.3(ARL6):c.143T>A (p.Leu48His)
|
rs895572972
|
|
NM_001278293.3(ARL6):c.49G>A (p.Glu17Lys)
|
rs201736026
|
|
NM_001297.5(CNGB1):c.2544dup (p.Leu849fs)
|
rs760430056
|
|
NM_001297.5(CNGB1):c.2762_2765del (p.Tyr921fs)
|
rs1064794342
|
|
NM_001330260.2(SCN8A):c.1420C>T (p.Pro474Ser)
|
rs1160066733
|
|
NM_001330260.2(SCN8A):c.5606T>C (p.Met1869Thr)
|
rs1064794727
|
|
NM_001352514.2(HLCS):c.1856C>G (p.Ala619Gly)
|
rs767190021
|
|
NM_001352514.2(HLCS):c.2600del (p.Leu867fs)
|
rs761447836
|
|
NM_001367823.1(ARHGEF18):c.1105G>C (p.Gly369Arg)
|
rs115555106
|
|
NM_001370658.1(BTD):c.1163T>C (p.Val388Ala)
|
rs1553654038
|
|
NM_001370658.1(BTD):c.1181_1192del (p.Tyr394_Val397del)
|
rs397514404
|
|
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs)
|
rs80338684
|
|
NM_001370658.1(BTD):c.641C>T (p.Thr214Ile)
|
rs587783005
|
|
NM_001378615.1(CC2D2A):c.1127A>T (p.Glu376Val)
|
rs16892095
|
|
NM_001378615.1(CC2D2A):c.1297_1299delinsAA (p.Gln433fs)
|
rs1560166511
|
|
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_001378615.1(CC2D2A):c.3145C>T (p.Arg1049Ter)
|
rs386833750
|
|
NM_001378615.1(CC2D2A):c.4179+1del
|
rs386833760
|
|
NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe)
|
rs62625014
|
|
NM_001482.3(GATM):c.1022C>T (p.Pro341Leu)
|
rs1889422661
|
|
NM_001482.3(GATM):c.1042+4T>C
|
rs1191624574
|
|
NM_001482.3(GATM):c.1159+19A>G
|
rs187979088
|
|
NM_001482.3(GATM):c.576G>A (p.Glu192=)
|
rs759135975
|
|
NM_001482.3(GATM):c.684C>T (p.Pro228=)
|
rs1251849022
|
|
NM_001482.3(GATM):c.752C>T (p.Pro251Leu)
|
rs1424827158
|
|
NM_001482.3(GATM):c.814-17C>G
|
rs368314780
|
|
NM_001482.3(GATM):c.930C>T (p.Ile310=)
|
rs2140641456
|
|
NM_001482.3(GATM):c.979-18dup
|
rs202176047
|
|
NM_001605.3(AARS1):c.-21-11dup
|
rs756492963
|
|
NM_001609.4(ACADSB):c.653dup (p.Val219fs)
|
rs755014798
|
|
NM_001690.4(ATP6V1A):c.1291-7dup
|
rs538710134
|
|
NM_001875.4(CPS1):c.1030_1032delinsGCT (p.Thr344Ala)
|
rs386654705
|
|
NM_001875.5(CPS1):c.1030A>G (p.Thr344Ala)
|
rs1047883
|
|
NM_001875.5(CPS1):c.1312G>C (p.Ala438Pro)
|
rs772497399
|
|
NM_001875.5(CPS1):c.2265C>T (p.Ser755=)
|
rs41272667
|
|
NM_001875.5(CPS1):c.2407C>G (p.Arg803Gly)
|
rs201716417
|
|
NM_001875.5(CPS1):c.3250G>A (p.Asp1084Asn)
|
rs777363145
|
|
NM_001875.5(CPS1):c.3336+1G>A
|
rs1700437565
|
|
NM_001875.5(CPS1):c.3380T>A (p.Leu1127Ter)
|
rs2105908864
|
|
NM_001875.5(CPS1):c.3928-8del
|
rs397703682
|
|
NM_001875.5(CPS1):c.4501T>G (p.Ter1501Glu)
|
rs762494955
|
|
NM_001876.4(CPT1A):c.100T>C (p.Ser34Pro)
|
rs398123653
|
|
NM_001876.4(CPT1A):c.1793G>A (p.Arg598Gln)
|
rs878856345
|
|
NM_001876.4(CPT1A):c.478C>T (p.Arg160Ter)
|
rs80356782
|
|
NM_001958.5(EEF1A2):c.1345G>A (p.Gly449Ser)
|
rs2082362096
|
|
NM_001958.5(EEF1A2):c.370G>A (p.Glu124Lys)
|
rs886042041
|
|
NM_001958.5(EEF1A2):c.796C>T (p.Arg266Trp)
|
rs1555883505
|
|
NM_001985.3(ETFB):c.58-196_58-194del
|
rs768440463
|
|
NM_002150.3(HPD):c.325-19G>C
|
rs200528285
|
|
NM_002225.5(IVD):c.148C>G (p.Arg50Gly)
|
rs34695403
|
|
NM_002225.5(IVD):c.149G>C (p.Arg50Pro)
|
rs2229311
|
|
NM_002860.4(ALDH18A1):c.1740C>G (p.Ser580Arg)
|
rs139035272
|
|
NM_003042.4(SLC6A1):c.1070C>T (p.Ala357Val)
|
rs1553689859
|
|
NM_003042.4(SLC6A1):c.152T>A (p.Phe51Tyr)
|
rs1553687887
|
|
NM_003060.4(SLC22A5):c.*678G>T
|
rs148673968
|
|
NM_003060.4(SLC22A5):c.1175TGC[2] (p.Leu394del)
|
rs386134215
|
|
NM_003060.4(SLC22A5):c.1324_1325delinsAT (p.Ala442Ile)
|
rs267607053
|
|
NM_003060.4(SLC22A5):c.1346A>G (p.Tyr449Cys)
|
rs1183338050
|
|
NM_003060.4(SLC22A5):c.1492C>A (p.Leu498Met)
|
rs183379391
|
|
NM_003060.4(SLC22A5):c.248G>T (p.Arg83Leu)
|
rs72552726
|
|
NM_003060.4(SLC22A5):c.254_264dup (p.Ile89fs)
|
rs377767449
|
|
NM_003060.4(SLC22A5):c.451G>T (p.Val151Leu)
|
rs386134193
|
|
NM_003060.4(SLC22A5):c.458_459del (p.Val153fs)
|
rs386134195
|
|
NM_003060.4(SLC22A5):c.497+2T>A
|
rs1752229268
|
|
NM_003060.4(SLC22A5):c.55C>A (p.Arg19Ser)
|
rs1319889867
|
|
NM_003060.4(SLC22A5):c.64TTC[1] (p.Phe23del)
|
rs377767444
|
|
NM_003060.4(SLC22A5):c.760C>T (p.Arg254Ter)
|
rs121908893
|
|
NM_003060.4(SLC22A5):c.800G>A (p.Gly267Glu)
|
rs775430253
|
|
NM_003060.4(SLC22A5):c.844del (p.Arg282fs)
|
rs386134209
|
|
NM_003060.4(SLC22A5):c.844dup (p.Arg282fs)
|
rs386134209
|
|
NM_003060.4(SLC22A5):c.990_1016del (p.Leu332_Ile340del)
|
rs1561574113
|
|
NM_003611.3(OFD1):c.1193_1196del (p.Gln398fs)
|
rs312262868
|
|
NM_003611.3(OFD1):c.121C>T (p.Arg41Ter)
|
rs312262810
|
|
NM_003611.3(OFD1):c.1411+1G>A
|
rs2147027077
|
|
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.216C>A (p.Gly72=)
|
rs369907022
|
|
NM_003611.3(OFD1):c.2488+14_2488+19del
|
rs781190242
|
|
NM_003611.3(OFD1):c.2996+16AC[2]
|
rs761270089
|
|
NM_003611.3(OFD1):c.400_403del (p.Glu134fs)
|
rs312262830
|
|
NM_003611.3(OFD1):c.517+13_517+14delinsGC
|
rs2146959704
|
|
NM_003611.3(OFD1):c.710dup (p.Tyr238fs)
|
rs312262845
|
|
NM_003748.4(ALDH4A1):c.12_17del (p.4PA[1])
|
rs768891033
|
|
NM_003982.4(SLC7A7):c.1004T>C (p.Phe335Ser)
|
rs11568424
|
|
NM_003982.4(SLC7A7):c.106_108del (p.Glu36del)
|
rs386833796
|
|
NM_003982.4(SLC7A7):c.1095+14A>G
|
rs2139386863
|
|
NM_003982.4(SLC7A7):c.1136T>G (p.Phe379Cys)
|
rs1160393188
|
|
NM_003982.4(SLC7A7):c.1185_1188del (p.Ser396fs)
|
rs386833800
|
|
NM_003982.4(SLC7A7):c.1211G>A (p.Arg404His)
|
rs201305817
|
|
NM_003982.4(SLC7A7):c.1245+10C>T
|
rs531427504
|
|
NM_003982.4(SLC7A7):c.1395del (p.Glu465fs)
|
rs1290445670
|
|
NM_003982.4(SLC7A7):c.1520A>G (p.Asp507Gly)
|
rs1055499594
|
|
NM_003982.4(SLC7A7):c.269A>G (p.Tyr90Cys)
|
rs375791337
|
|
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.390C>G (p.Thr130=)
|
rs1473768240
|
|
NM_003982.4(SLC7A7):c.554A>G (p.Asp185Gly)
|
rs2139397401
|
|
NM_003982.4(SLC7A7):c.625+18T>C
|
rs974421997
|
|
NM_003982.4(SLC7A7):c.770+1del
|
rs2139394672
|
|
NM_003982.4(SLC7A7):c.88C>T (p.Gln30Ter)
|
rs2138663895
|
|
NM_003982.4(SLC7A7):c.894+1G>T
|
rs386833827
|
|
NM_003982.4(SLC7A7):c.896C>G (p.Thr299Ser)
|
rs1409622896
|
|
NM_003982.4(SLC7A7):c.999-16A>G
|
rs1594944509
|
|
NM_004113.6(FGF12):c.229-8dup
|
rs34265167
|
|
NM_004183.4(BEST1):c.652C>T (p.Arg218Cys)
|
rs281865238
|
|
NM_004183.4(BEST1):c.763C>T (p.Arg255Trp)
|
rs372989281
|
|
NM_004316.4(ASCL1):c.151CAG[8] (p.Gln59_Gln62del)
|
rs3832799
|
|
NM_004408.4(DNM1):c.709C>T (p.Arg237Trp)
|
rs760270633
|
|
NM_004453.4(ETFDH):c.1073G>A (p.Arg358Lys)
|
rs796051959
|
|
NM_004453.4(ETFDH):c.25T>A (p.Ser9Thr)
|
rs1175266968
|
|
NM_004453.4(ETFDH):c.463A>G (p.Arg155Gly)
|
rs549150456
|
|
NM_004744.5(LRAT):c.382G>C (p.Asp128His)
|
rs1732845050
|
|
NM_004937.3(CTNS):c.141-8C>T
|
rs768912772
|
|
NM_004937.3(CTNS):c.18_21del (p.Thr7fs)
|
rs786204501
|
|
NM_004937.3(CTNS):c.425_427del (p.Phe142del)
|
rs1178364162
|
|
NM_004937.3(CTNS):c.559_561+24del
|
rs113994211
|
|
NM_004937.3(CTNS):c.561+1del
|
rs786204667
|
|
NM_004937.3(CTNS):c.61+5G>A
|
rs1407498555
|
|
NM_004937.3(CTNS):c.682-1G>T
|
rs1057516771
|
|
NM_004937.3(CTNS):c.691C>A (p.Gln231Lys)
|
rs1463026342
|
|
NM_004937.3(CTNS):c.696_697dup (p.Val233fs)
|
rs1555563982
|
|
NM_004937.3(CTNS):c.766_767delinsTT (p.Ala256Leu)
|
rs1567713916
|
|
NM_004937.3(CTNS):c.829dup (p.Thr277fs)
|
rs752919200
|
|
NM_004937.3(CTNS):c.926dup (p.Ser310fs)
|
rs786204420
|
|
NM_004974.4(KCNA2):c.193C>T (p.Arg65Ter)
|
rs763353895
|
|
NM_004975.4(KCNB1):c.1136G>A (p.Gly379Glu)
|
rs1984249721
|
|
NM_004975.4(KCNB1):c.1297C>T (p.Arg433Ter)
|
rs1064794764
|
|
NM_005271.5(GLUD1):c.820C>T (p.Arg274Cys)
|
rs56275071
|
|
NM_005334.3(HCFC1):c.2231C>T (p.Ala744Val)
|
rs2065388763
|
|
NM_005334.3(HCFC1):c.4576G>A (p.Ala1526Thr)
|
rs782652831
|
|
NM_005589.4(ALDH6A1):c.853-11dup
|
rs528185481
|
|
NM_005629.4(SLC6A8):c.1392+17dup
|
rs781964988
|
|
NM_005629.4(SLC6A8):c.1794C>G (p.Ile598Met)
|
rs782587560
|
|
NM_005802.5(TOPORS):c.74C>G (p.Ser25Trp)
|
rs61758066
|
|
NM_005957.5(MTHFR):c.1064C>T (p.Pro355Leu)
|
rs794727869
|
|
NM_005957.5(MTHFR):c.1541_1542del (p.Glu514fs)
|
rs764338697
|
|
NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys)
|
rs137853006
|
|
NM_006343.3(MERTK):c.1493_1494inv (p.Asn498Ser)
|
|
|
NM_006343.3(MERTK):c.669G>A (p.Pro223=)
|
rs750984679
|
|
NM_006445.4(PRPF8):c.1985-6dup
|
rs1176602293
|
|
NM_006445.4(PRPF8):c.603C>T (p.Ala201=)
|
rs148215037
|
|
NM_006445.4(PRPF8):c.6926A>C (p.His2309Pro)
|
rs121434236
|
|
NM_006623.4(PHGDH):c.1078+1G>A
|
rs1224279673
|
|
NM_006899.5(IDH3B):c.1115TCA[1] (p.Ile373del)
|
rs781157150
|
|
NM_006899.5(IDH3B):c.34C>T (p.Arg12Ter)
|
rs745313320
|
|
NM_006907.4(PYCR1):c.67+10del
|
rs779525010
|
|
NM_007123.6(USH2A):c.4510dup (p.Arg1504fs)
|
rs727503731
|
|
NM_012213.3(MLYCD):c.1A>T (p.Met1Leu)
|
rs1179555424
|
|
NM_012213.3(MLYCD):c.929G>C (p.Arg310Pro)
|
rs146465073
|
|
NM_012418.4(FSCN2):c.1105G>A (p.Gly369Ser)
|
rs376938035
|
|
NM_012418.4(FSCN2):c.829G>A (p.Val277Ile)
|
rs181420326
|
|
NM_012463.4(ATP6V0A2):c.1666G>A (p.Val556Met)
|
rs139454557
|
|
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.883G>A (p.Val295Ile)
|
rs371533517
|
|
NM_014003.4(DHX38):c.605A>G (p.His202Arg)
|
rs2144134233
|
|
NM_014014.5(SNRNP200):c.1951C>T (p.Leu651Phe)
|
rs2104352435
|
|
NM_014014.5(SNRNP200):c.5983G>A (p.Ala1995Thr)
|
rs201691299
|
|
NM_014049.5(ACAD9):c.15_40del (p.Leu6fs)
|
rs746312225
|
|
NM_014049.5(ACAD9):c.1798_1801del (p.Lys600fs)
|
rs917547961
|
|
NM_014049.5(ACAD9):c.1846C>T (p.Pro616Ser)
|
rs863224845
|
|
NM_014049.5(ACAD9):c.359del (p.Phe120fs)
|
rs863224844
|
|
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.194_202del (p.Asn65_Cys67del)
|
rs1555454566
|
|
NM_014251.3(SLC25A13):c.1453-2A>T
|
rs2116426311
|
|
NM_014251.3(SLC25A13):c.754G>A (p.Glu252Lys)
|
rs973986984
|
|
NM_014251.3(SLC25A13):c.852_855del (p.Met285fs)
|
rs80338720
|
|
NM_014252.4(SLC25A15):c.553TTC[3] (p.Phe188del)
|
rs202247803
|
|
NM_014252.4(SLC25A15):c.658G>A (p.Gly220Arg)
|
rs202247805
|
|
NM_014270.5(SLC7A9):c.1262_1263del (p.Ser421fs)
|
rs753692696
|
|
NM_014270.5(SLC7A9):c.1353C>A (p.Tyr451Ter)
|
rs1007096305
|
|
NM_014270.5(SLC7A9):c.1400-2A>G
|
rs2145788754
|
|
NM_014270.5(SLC7A9):c.225C>T (p.Leu75=)
|
rs753121162
|
|
NM_014270.5(SLC7A9):c.411_412del (p.Pro139fs)
|
rs774124697
|
|
NM_014270.5(SLC7A9):c.508G>A (p.Val170Met)
|
rs121908479
|
|
NM_014270.5(SLC7A9):c.614dup (p.Asn206fs)
|
rs745319034
|
|
NM_014270.5(SLC7A9):c.749+1G>C
|
rs1060499787
|
|
NM_014270.5(SLC7A9):c.992C>T (p.Ala331Val)
|
rs768466784
|
|
NM_014336.5(AIPL1):c.971G>T (p.Arg324Leu)
|
rs150427474
|
|
NM_014384.3(ACAD8):c.235C>G (p.Arg79Gly)
|
rs377629003
|
|
NM_014714.4(IFT140):c.1039C>T (p.Arg347Ter)
|
rs1166261279
|
|
NM_014714.4(IFT140):c.1049T>C (p.Met350Thr)
|
rs1188370536
|
|
NM_014714.4(IFT140):c.1359_1359+3delinsAC
|
rs2141816540
|
|
NM_014714.4(IFT140):c.1369G>A (p.Ala457Thr)
|
rs747510464
|
|
NM_014714.4(IFT140):c.1380del (p.Asn460fs)
|
rs431905522
|
|
NM_014714.4(IFT140):c.1405C>G (p.Leu469Val)
|
rs190034269
|
|
NM_014714.4(IFT140):c.1428T>C (p.Ser476=)
|
rs771030841
|
|
NM_014714.4(IFT140):c.1429G>T (p.Ala477Ser)
|
rs2034677396
|
|
NM_014714.4(IFT140):c.148-16_148-15delinsGC
|
rs2142043610
|
|
NM_014714.4(IFT140):c.1649G>C (p.Arg550Pro)
|
rs762399912
|
|
NM_014714.4(IFT140):c.1653-10del
|
rs760597633
|
|
NM_014714.4(IFT140):c.1717G>A (p.Ala573Thr)
|
rs528350505
|
|
NM_014714.4(IFT140):c.1737C>T (p.Ser579=)
|
rs1230491407
|
|
NM_014714.4(IFT140):c.1770+15C>G
|
rs374526643
|
|
NM_014714.4(IFT140):c.1933A>G (p.Asn645Asp)
|
rs540658203
|
|
NM_014714.4(IFT140):c.1945G>A (p.Val649Met)
|
rs534052238
|
|
NM_014714.4(IFT140):c.2068-2A>G
|
rs1489989834
|
|
NM_014714.4(IFT140):c.2214_2217del (p.Asp738fs)
|
rs1415763185
|
|
NM_014714.4(IFT140):c.2355A>G (p.Ile785Met)
|
rs2033196611
|
|
NM_014714.4(IFT140):c.2400-12G>A
|
rs186193750
|
|
NM_014714.4(IFT140):c.240G>A (p.Trp80Ter)
|
rs1471379682
|
|
NM_014714.4(IFT140):c.2458G>A (p.Ala820Thr)
|
rs2141185138
|
|
NM_014714.4(IFT140):c.2550C>G (p.Ala850=)
|
rs2745180
|
|
NM_014714.4(IFT140):c.258G>A (p.Thr86=)
|
rs766569165
|
|
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.2655del (p.Trp885fs)
|
rs762111572
|
|
NM_014714.4(IFT140):c.2671del (p.Gln890_Val891insTer)
|
rs2141179932
|
|
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.2909_2920del (p.Glu970_Ala973del)
|
rs1489901262
|
|
NM_014714.4(IFT140):c.2948del (p.Asp983fs)
|
rs2141172226
|
|
NM_014714.4(IFT140):c.3003G>T (p.Ala1001=)
|
rs151293332
|
|
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.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.3408_3409del (p.His1136fs)
|
rs765669703
|
|
NM_014714.4(IFT140):c.3425C>T (p.Ala1142Val)
|
rs370255916
|
|
NM_014714.4(IFT140):c.3525C>T (p.Thr1175=)
|
rs752664070
|
|
NM_014714.4(IFT140):c.3598A>G (p.Met1200Val)
|
rs566568065
|
|
NM_014714.4(IFT140):c.370-20G>C
|
rs200779129
|
|
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.4183-11C>T
|
rs776525322
|
|
NM_014714.4(IFT140):c.4227C>G (p.Ala1409=)
|
rs143920103
|
|
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.474G>C (p.Arg158=)
|
rs145287241
|
|
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.867C>G (p.Ser289Arg)
|
rs145858131
|
|
NM_015506.3(MMACHC):c.182G>A (p.Arg61Gln)
|
rs201777449
|
|
NM_015506.3(MMACHC):c.182G>C (p.Arg61Pro)
|
rs201777449
|
|
NM_015506.3(MMACHC):c.259C>T (p.Leu87=)
|
rs776402014
|
|
NM_015506.3(MMACHC):c.277-4C>A
|
rs199889403
|
|
NM_015506.3(MMACHC):c.285dup (p.Glu96fs)
|
rs1553162821
|
|
NM_015506.3(MMACHC):c.310_313del (p.Asp104fs)
|
rs1311416761
|
|
NM_015506.3(MMACHC):c.327_329delinsATTGCTGACTAC (p.Asn110delinsLeuLeuThrThr)
|
rs2149323547
|
|
NM_015506.3(MMACHC):c.328_331del (p.Asn110fs)
|
rs796052000
|
|
NM_015506.3(MMACHC):c.347T>C (p.Leu116Pro)
|
rs121918240
|
|
NM_015506.3(MMACHC):c.352del (p.Gln118fs)
|
rs749264632
|
|
NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del)
|
rs796051998
|
|
NM_015506.3(MMACHC):c.395G>A (p.Arg132Gln)
|
rs369335868
|
|
NM_015506.3(MMACHC):c.433A>G (p.Ile145Val)
|
rs74365027
|
|
NM_015506.3(MMACHC):c.440G>A (p.Gly147Asp)
|
rs140522266
|
|
NM_015506.3(MMACHC):c.443_459delinsCTGGGGCTGG (p.Val148fs)
|
rs2149323805
|
|
NM_015506.3(MMACHC):c.481C>G (p.Arg161Gly)
|
rs370596113
|
|
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.565C>A (p.Arg189Ser)
|
rs200895671
|
|
NM_015506.3(MMACHC):c.572C>T (p.Ala191Val)
|
rs375442063
|
|
NM_015506.3(MMACHC):c.615C>T (p.Tyr205=)
|
rs747527726
|
|
NM_015506.3(MMACHC):c.619dup (p.Asp207fs)
|
rs765913293
|
|
NM_015506.3(MMACHC):c.651A>G (p.Glu217=)
|
rs948189041
|
|
NM_015506.3(MMACHC):c.658_660del (p.Lys220del)
|
rs398124296
|
|
NM_015506.3(MMACHC):c.701del (p.Leu234fs)
|
rs767339897
|
|
NM_015506.3(MMACHC):c.729T>C (p.Pro243=)
|
rs891106099
|
|
NM_015506.3(MMACHC):c.763C>T (p.Pro255Ser)
|
rs533256855
|
|
NM_015506.3(MMACHC):c.801G>A (p.Arg267=)
|
rs751017212
|
|
NM_015506.3(MMACHC):c.839del (p.Pro280fs)
|
rs1553163017
|
|
NM_015506.3(MMACHC):c.848G>C (p.Ter283Ser)
|
rs201025783
|
|
NM_015629.4(PRPF31):c.239-1G>T
|
rs2073798309
|
|
NM_015629.4(PRPF31):c.895T>C (p.Cys299Arg)
|
rs2073926924
|
|
NM_015662.3(IFT172):c.1330C>T (p.Arg444Cys)
|
rs1038040281
|
|
NM_015662.3(IFT172):c.1342_1343del (p.Arg448fs)
|
rs1558404443
|
|
NM_015662.3(IFT172):c.1435A>G (p.Ile479Val)
|
rs1667635292
|
|
NM_015662.3(IFT172):c.1525-6C>G
|
rs201231401
|
|
NM_015662.3(IFT172):c.1698T>A (p.Asp566Glu)
|
rs765731241
|
|
NM_015662.3(IFT172):c.184-23dup
|
rs747166252
|
|
NM_015662.3(IFT172):c.1931C>A (p.Ala644Glu)
|
rs371919234
|
|
NM_015662.3(IFT172):c.2158del (p.Arg720fs)
|
rs587777086
|
|
NM_015662.3(IFT172):c.2264G>C (p.Arg755Pro)
|
rs78631901
|
|
NM_015662.3(IFT172):c.2839A>G (p.Met947Val)
|
rs774401568
|
|
NM_015662.3(IFT172):c.3465G>C (p.Glu1155Asp)
|
rs935403723
|
|
NM_015662.3(IFT172):c.3623G>C (p.Arg1208Pro)
|
rs758387302
|
|
NM_015662.3(IFT172):c.3632T>G (p.Leu1211Trp)
|
rs532669006
|
|
NM_015662.3(IFT172):c.3663G>A (p.Gly1221=)
|
rs892273103
|
|
NM_015662.3(IFT172):c.3700A>C (p.Asn1234His)
|
rs746597294
|
|
NM_015662.3(IFT172):c.3728G>T (p.Ser1243Ile)
|
rs145507269
|
|
NM_015662.3(IFT172):c.3761_3766del (p.Pro1254_Ser1255del)
|
rs763826196
|
|
NM_015662.3(IFT172):c.3824G>T (p.Gly1275Val)
|
rs543062539
|
|
NM_015662.3(IFT172):c.4107C>T (p.Ile1369=)
|
rs747023555
|
|
NM_015662.3(IFT172):c.4116G>A (p.Glu1372=)
|
rs758268726
|
|
NM_015662.3(IFT172):c.4387T>C (p.Leu1463=)
|
rs1455837031
|
|
NM_015662.3(IFT172):c.44G>T (p.Gly15Val)
|
rs1572838053
|
|
NM_015662.3(IFT172):c.4593C>G (p.Phe1531Leu)
|
rs540171862
|
|
NM_015662.3(IFT172):c.463G>A (p.Val155Met)
|
rs149969430
|
|
NM_015662.3(IFT172):c.4812C>G (p.Thr1604=)
|
rs369400518
|
|
NM_015662.3(IFT172):c.4925_4928del (p.Arg1642fs)
|
rs587777078
|
|
NM_015662.3(IFT172):c.4932_4940del (p.Glu1644_Arg1646del)
|
rs1664979213
|
|
NM_015662.3(IFT172):c.4960A>G (p.Met1654Val)
|
rs529850410
|
|
NM_015662.3(IFT172):c.5044C>T (p.Arg1682Ter)
|
rs1329856696
|
|
NM_015662.3(IFT172):c.956G>A (p.Arg319Lys)
|
rs1002834084
|
|
NM_015702.3(MMADHC):c.311C>T (p.Ala104Val)
|
rs533388008
|
|
NM_015702.3(MMADHC):c.609+6T>C
|
rs1682704400
|
|
NM_016247.4(IMPG2):c.2887A>G (p.Ser963Gly)
|
rs941586075
|
|
NM_016335.6(PRODH):c.1163C>T (p.Pro388Leu)
|
rs147233639
|
|
NM_016335.6(PRODH):c.130_156del (p.Thr44_Ala52del)
|
rs949036081
|
|
NM_016335.6(PRODH):c.1402G>A (p.Glu468Lys)
|
rs372618210
|
|
NM_016335.6(PRODH):c.1576C>T (p.Gln526Ter)
|
rs372187772
|
|
NM_016335.6(PRODH):c.1623C>G (p.Ala541=)
|
rs16983347
|
|
NM_016335.6(PRODH):c.1772G>A (p.Arg591Gln)
|
rs779412444
|
|
NM_016335.6(PRODH):c.1A>G (p.Met1Val)
|
rs1036292619
|
|
NM_016335.6(PRODH):c.268G>A (p.Glu90Lys)
|
rs1023813331
|
|
NM_016335.6(PRODH):c.270G>A (p.Glu90=)
|
rs562699700
|
|
NM_016335.6(PRODH):c.54C>T (p.Val18=)
|
rs1032634465
|
|
NM_016335.6(PRODH):c.803C>T (p.Ala268Val)
|
rs375358521
|
|
NM_016335.6(PRODH):c.87G>A (p.Gln29=)
|
rs1417739533
|
|
NM_016335.6(PRODH):c.90C>T (p.Pro30=)
|
rs2146224247
|
|
NM_016335.6(PRODH):c.930-15C>T
|
rs201272622
|
|
NM_016373.4(WWOX):c.1223G>A (p.Arg408Gln)
|
rs765857107
|
|
NM_016373.4(WWOX):c.341T>C (p.Met114Thr)
|
rs761906386
|
|
NM_016373.4(WWOX):c.535G>A (p.Ala179Thr)
|
rs11545029
|
|
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.689A>C (p.Gln230Pro)
|
|
|
NM_017739.4(POMGNT1):c.1027-2_1027-1del
|
rs1057516536
|
|
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.1694_1695del (p.Ser565fs)
|
rs1057516903
|
|
NM_017739.4(POMGNT1):c.1876del (p.Val626fs)
|
rs386834022
|
|
NM_017739.4(POMGNT1):c.188G>C (p.Arg63Pro)
|
rs141421141
|
|
NM_017739.4(POMGNT1):c.512G>A (p.Arg171Gln)
|
rs1046275062
|
|
NM_018368.4(LMBRD1):c.1331T>C (p.Leu444Ser)
|
rs2149843427
|
|
NM_018706.7(DHTKD1):c.2457_2458del (p.Glu821fs)
|
rs1271803838
|
|
NM_020166.5(MCCC1):c.1129_1130del (p.Leu377fs)
|
rs1714102462
|
|
NM_020166.5(MCCC1):c.1263dup (p.Gln422fs)
|
rs762463137
|
|
NM_020166.5(MCCC1):c.558del (p.Gln186fs)
|
rs1212517901
|
|
NM_020166.5(MCCC1):c.640-1G>A
|
rs727504005
|
|
NM_020166.5(MCCC1):c.90-1G>C
|
rs1718608300
|
|
NM_020166.5(MCCC1):c.945T>A (p.Tyr315Ter)
|
rs150862707
|
|
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_020686.6(ABAT):c.540+14CA[10]
|
rs35745596
|
|
NM_020686.6(ABAT):c.540+14CA[12]
|
rs35745596
|
|
NM_020686.6(ABAT):c.677C>T (p.Ala226Val)
|
rs372807667
|
|
NM_020949.3(SLC7A14):c.1168G>C (p.Val390Leu)
|
rs142416793
|
|
NM_022132.5(MCCC2):c.1635dup (p.Ser546Ter)
|
rs768272570
|
|
NM_022132.5(MCCC2):c.433T>C (p.Tyr145His)
|
rs1745481314
|
|
NM_022132.5(MCCC2):c.652G>A (p.Ala218Thr)
|
rs886043524
|
|
NM_022132.5(MCCC2):c.689del (p.Asn230fs)
|
rs2112412398
|
|
NM_025136.4(OPA3):c.143-1G>C
|
rs80356523
|
|
NM_031885.3(BBS2):c.-163C>T
|
rs750434595
|
|
NM_031885.5(BBS2):c.1123G>C (p.Gly375Arg)
|
rs1018314879
|
|
NM_031885.5(BBS2):c.117+7G>A
|
rs780862523
|
|
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.1413A>G (p.Val471=)
|
rs35294865
|
|
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.1649_1650del (p.Leu550fs)
|
rs750146549
|
|
NM_031885.5(BBS2):c.1845T>C (p.Ala615=)
|
rs1964133464
|
|
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.2059+12_2059+13del
|
rs746917866
|
|
NM_031885.5(BBS2):c.216C>T (p.Asn72=)
|
rs375853147
|
|
NM_031885.5(BBS2):c.342A>G (p.Arg114=)
|
rs2144192731
|
|
NM_031885.5(BBS2):c.365C>T (p.Ala122Val)
|
rs17856449
|
|
NM_031885.5(BBS2):c.402del (p.Ala136fs)
|
rs1368647604
|
|
NM_031885.5(BBS2):c.472del
|
rs587777826
|
|
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.774del (p.Asn258fs)
|
rs777218224
|
|
NM_031885.5(BBS2):c.8T>C (p.Leu3Pro)
|
rs1964870972
|
|
NM_031885.5(BBS2):c.941-8C>G
|
rs373354290
|
|
NM_031885.5(BBS2):c.974G>A (p.Arg325Lys)
|
rs1964301074
|
|
NM_032861.4(SERAC1):c.1396A>T (p.Met466Leu)
|
rs115459512
|
|
NM_033100.4(CDHR1):c.2546AGA[2] (p.Lys851del)
|
rs150926842
|
|
NM_054012.4(ASS1):c.363G>A (p.Lys121=)
|
rs2131874200
|
|
NM_054012.4(ASS1):c.539G>A (p.Ser180Asn)
|
rs121908638
|
|
NM_144596.4(TTC8):c.1464G>A (p.Ala488=)
|
rs142073418
|
|
NM_144596.4(TTC8):c.324C>T (p.Ala108=)
|
rs571883979
|
|
NM_144596.4(TTC8):c.488C>T (p.Thr163Met)
|
rs758942370
|
|
NM_144596.4(TTC8):c.983C>T (p.Ala328Val)
|
rs755533153
|
|
NM_152419.3(HGSNAT):c.1437dup (p.Ile480fs)
|
rs759057396
|
|
NM_152419.3(HGSNAT):c.1687_1688delinsAG (p.Val563Arg)
|
rs1563386838
|
|
NM_152419.3(HGSNAT):c.371G>A (p.Arg124Lys)
|
rs1803172725
|
|
NM_152419.3(HGSNAT):c.525dup (p.Val176fs)
|
rs483352895
|
|
NM_152419.3(HGSNAT):c.576T>C (p.Phe192=)
|
rs1563366828
|
|
NM_152419.3(HGSNAT):c.710C>T (p.Pro237Leu)
|
rs727503962
|
|
NM_172250.3(MMAA):c.1198G>T (p.Ala400Ser)
|
rs895867414
|
|
NM_172250.3(MMAA):c.593_596del (p.Thr198fs)
|
rs796051993
|
|
NM_172250.3(MMAA):c.800C>T (p.Ala267Val)
|
rs138854691
|
|
NM_174878.3(CLRN1):c.502dup (p.Ile168fs)
|
rs746523071
|
|
NM_177965.4(CFAP418):c.124del (p.Arg42fs)
|
rs1563477144
|
|
NM_177965.4(CFAP418):c.177del (p.Glu60fs)
|
rs1811931460
|
|
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.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.602G>C (p.Arg201Pro)
|
rs115660509
|
|
NM_178857.6(RP1L1):c.2499G>A (p.Pro833=)
|
rs373310698
|
|
NM_178857.6(RP1L1):c.3956_4003del (p.Ala1319_Glu1334del)
|
rs746122572
|
|
NM_183050.4(BCKDHB):c.403G>A (p.Gly135Arg)
|
rs751953459
|
|
NM_183050.4(BCKDHB):c.595_596del (p.Ser199_Pro200insTer)
|
rs398124587
|
|
NM_183050.4(BCKDHB):c.951+4T>C
|
rs778135997
|
|
NM_201253.3(CRB1):c.1148G>A (p.Cys383Tyr)
|
rs62645754
|
|
NM_201253.3(CRB1):c.1426A>G (p.Thr476Ala)
|
rs1553260314
|
|
NM_201253.3(CRB1):c.1743_1755dup (p.Ser586fs)
|
rs751935649
|
|
NM_201253.3(CRB1):c.1755C>A (p.Asp585Glu)
|
rs1034422363
|
|
NM_201253.3(CRB1):c.2839G>A (p.Glu947Lys)
|
rs574162883
|
|
NM_201253.3(CRB1):c.2843-3dup
|
rs776525385
|
|
NM_201253.3(CRB1):c.3299T>G (p.Ile1100Arg)
|
rs62635659
|
|
NM_201253.3(CRB1):c.3862G>A (p.Gly1288Ser)
|
rs2125506459
|
|
NM_201253.3(CRB1):c.3961T>G (p.Cys1321Gly)
|
rs62635649
|
|
NM_201253.3(CRB1):c.4006-1G>T
|
rs752804194
|
|
NM_201253.3(CRB1):c.506del (p.Gly169fs)
|
rs1167867158
|
|
NM_201253.3(CRB1):c.613_619del (p.Ile205fs)
|
rs62645752
|
|
NM_201253.3(CRB1):c.635G>A (p.Cys212Tyr)
|
rs1658699227
|
|
NM_201548.5(CERKL):c.316C>T (p.Arg106Cys)
|
rs569826109
|
|
NM_203288.2(RP9):c.32G>A (p.Gly11Glu)
|
rs575755283
|
|
NM_206933.4(USH2A):c.11411del (p.Pro3804fs)
|
rs397517973
|
|
NM_206933.4(USH2A):c.1144-2A>T
|
rs2037686445
|
|
NM_206933.4(USH2A):c.11602A>G (p.Met3868Val)
|
rs35309576
|
|
NM_206933.4(USH2A):c.11875_11876del (p.Gln3959fs)
|
rs779791079
|
|
NM_206933.4(USH2A):c.12743A>G (p.His4248Arg)
|
rs145830318
|
|
NM_206933.4(USH2A):c.13312T>C (p.Trp4438Arg)
|
rs372802465
|
|
NM_206933.4(USH2A):c.13625C>G (p.Ala4542Gly)
|
rs775560370
|
|
NM_206933.4(USH2A):c.14031dup (p.Ala4678fs)
|
rs397517988
|
|
NM_206933.4(USH2A):c.14632T>G (p.Cys4878Gly)
|
rs779400517
|
|
NM_206933.4(USH2A):c.15371del (p.Leu5124fs)
|
rs1656163649
|
|
NM_206933.4(USH2A):c.15577del (p.Glu5193fs)
|
rs1553313073
|
|
NM_206933.4(USH2A):c.1679del (p.Pro560fs)
|
rs773539640
|
|
NM_206933.4(USH2A):c.1724G>A (p.Cys575Tyr)
|
rs483353054
|
|
NM_206933.4(USH2A):c.1824dup (p.Glu609Ter)
|
rs2037013894
|
|
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.2168-2A>G
|
rs993185407
|
|
NM_206933.4(USH2A):c.2431_2432del (p.Lys811fs)
|
rs2102545818
|
|
NM_206933.4(USH2A):c.387del (p.Phe129fs)
|
rs1484339054
|
|
NM_206933.4(USH2A):c.3884G>A (p.Arg1295Gln)
|
rs372993160
|
|
NM_206933.4(USH2A):c.3920C>G (p.Ser1307Ter)
|
rs756623509
|
|
NM_206933.4(USH2A):c.4027A>C (p.Asn1343His)
|
rs754634823
|
|
NM_206933.4(USH2A):c.4046del (p.Ser1349fs)
|
rs2034899784
|
|
NM_206933.4(USH2A):c.4222C>T (p.Gln1408Ter)
|
rs746551311
|
|
NM_206933.4(USH2A):c.4338_4339del (p.Cys1447fs)
|
rs111033367
|
|
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.5877del (p.Ser1961fs)
|
rs727505343
|
|
NM_206933.4(USH2A):c.5959T>A (p.Tyr1987Asn)
|
rs747652397
|
|
NM_206933.4(USH2A):c.6131C>A (p.Ser2044Ter)
|
rs1209837469
|
|
NM_206933.4(USH2A):c.6134A>T (p.His2045Leu)
|
rs111033514
|
|
NM_206933.4(USH2A):c.6728G>T (p.Gly2243Val)
|
rs201526850
|
|
NM_206933.4(USH2A):c.6730G>A (p.Val2244Met)
|
rs550772689
|
|
NM_206933.4(USH2A):c.6957+1G>C
|
rs2102458321
|
|
NM_206933.4(USH2A):c.7100G>A (p.Gly2367Glu)
|
rs1017425051
|
|
NM_206933.4(USH2A):c.7238A>C (p.Asn2413Thr)
|
rs780840434
|
|
NM_206933.4(USH2A):c.7765C>G (p.His2589Asp)
|
rs747492773
|
|
NM_206933.4(USH2A):c.7932G>A (p.Trp2644Ter)
|
rs1571783742
|
|
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter)
|
rs397518048
|
|
NM_206933.4(USH2A):c.9813G>T (p.Met3271Ile)
|
rs137876918
|
|
NM_206933.4(USH2A):c.9860_9873del (p.His3287fs)
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rs1388040238
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