ClinVar Miner

List of variants studied for amino acid metabolism disease by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (436):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3471
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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) rs1388040238

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.