ClinVar Miner

List of variants reported as benign for amino acid metabolism disease by Genome-Nilou Lab

Included ClinVar conditions (436):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1069
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HGVS dbSNP gnomAD frequency
NM_005629.4(SLC6A8):c.-5A>G rs384573 1.00000
NM_005050.4(ABCD4):c.1753-46A>G rs929449 0.99998
NM_001081.4(CUBN):c.8150C>G (p.Ser2717Trp) rs2796835 0.99996
NM_020686.6(ABAT):c.668-90T>C rs1273407 0.99996
NM_001875.5(CPS1):c.3337-79C>T rs4673540 0.99993
NM_000283.4(PDE6B):c.958G>A (p.Val320Ile) rs10902758 0.99926
NM_004311.4(ARL3):c.-75C>T rs2248679 0.99812
NM_177972.3(TUB):c.566-32C>A rs7931842 0.99757
NM_001081.4(CUBN):c.6485G>A (p.Cys2162Tyr) rs1276712 0.99748
NM_177972.3(TUB):c.565+16A>G rs11041739 0.99683
NM_031885.5(BBS2):c.209G>A (p.Ser70Asn) rs4784677 0.99534
NM_001142800.2(EYS):c.1599+96A>C rs1502963 0.99413
NM_000387.6(SLC25A20):c.536-18T>C rs6414612 0.99352
NM_203288.2(RP9):c.314-9C>T rs6462460 0.99344
NM_001127222.2(CACNA1A):c.1987-98C>T rs4926263 0.99259
NM_201548.5(CERKL):c.1506C>T (p.Asp502=) rs10180793 0.99229
NM_018706.7(DHTKD1):c.1938T>C (p.Phe646=) rs1615510 0.99092
NM_152419.3(HGSNAT):c.1749T>C (p.Tyr583=) rs1126058 0.99080
NM_001297.5(CNGB1):c.875-39C>T rs152143 0.98924
NM_003937.3(KYNU):c.955+26C>T rs6430000 0.98885
NM_000350.3(ABCA4):c.141A>G (p.Pro47=) rs4847281 0.98746
NM_001609.4(ACADSB):c.1129-90A>G rs2421166 0.98530
NM_001127222.2(CACNA1A):c.6526+137A>G rs10413221 0.98446
NM_006907.4(PYCR1):c.903A>G (p.Ser301=) rs61747618 0.98394
NM_001142800.2(EYS):c.1600-38G>A rs1502965 0.98305
NM_001142800.2(EYS):c.1600-79A>G rs1502964 0.98305
NM_032180.2(FAM161A):c.-41T>C rs1881616 0.98184
NM_001201543.2(FAM161A):c.1212T>C (p.Cys404=) rs4672457 0.98181
NM_001201543.2(FAM161A):c.165T>G (p.Ala55=) rs4270331 0.98177
NM_001127222.2(CACNA1A):c.4950+96A>C rs16039 0.97758
NM_014003.4(DHX38):c.2487+14T>C rs42544 0.97480
NM_014714.4(IFT140):c.2768+184A>G rs2745178 0.97367
NM_003748.4(ALDH4A1):c.249+22A>G rs941495 0.96827
NM_003748.4(ALDH4A1):c.678+75T>C rs6426611 0.96773
NM_018706.7(DHTKD1):c.58T>C (p.Phe20Leu) rs1279138 0.96677
NM_014714.4(IFT140):c.3270+19T>C rs2745176 0.96626
NM_000159.4(GCDH):c.-35+17A>G rs7251834 0.96351
NM_177972.3(TUB):c.566-47C>G rs10160258 0.96273
NM_002225.5(IVD):c.550+57A>G rs4924466 0.96250
NM_012213.3(MLYCD):c.528+19T>C rs446036 0.96188
NM_018706.7(DHTKD1):c.2320-25A>G rs2399771 0.95721
NM_000071.3(CBS):c.1552+154T>C rs234701 0.95648
NM_018706.7(DHTKD1):c.1911A>C (p.Pro637=) rs1701472 0.95314
NM_001081.4(CUBN):c.593+33dup rs11409967 0.95095
NM_017739.4(POMGNT1):c.1867A>G (p.Met623Val) rs6659553 0.94881
NM_178857.6(RP1L1):c.4401G>T (p.Arg1467Ser) rs4840498 0.94637
NM_001876.4(CPT1A):c.556-16C>T rs3019603 0.94412
NM_001875.5(CPS1):c.4101+62A>G rs10932347 0.94113
NM_001003841.3(SLC6A19):c.1539-67T>C rs12513763 0.93561
NM_153006.3(NAGS):c.1451+9T>C rs228773 0.93334
NM_016335.6(PRODH):c.*19T>C rs383964 0.93277
NM_000322.5(PRPH2):c.929G>A (p.Arg310Lys) rs425876 0.92861
NM_014003.4(DHX38):c.2380-20T>C rs150617 0.92860
NM_000191.3(HMGCL):c.252+34T>C rs2076344 0.92735
NM_000191.3(HMGCL):c.654A>G (p.Leu218=) rs719400 0.92712
NM_201253.3(CRB1):c.1410A>G (p.Leu470=) rs3902057 0.92528
NM_000282.4(PCCA):c.914+19A>G rs4306370 0.92464
NM_178857.6(RP1L1):c.5837C>A (p.Ala1946Glu) rs11785822 0.92448
NM_001876.4(CPT1A):c.1251T>C (p.Phe417=) rs2228502 0.92020
NM_001876.4(CPT1A):c.1353-47G>T rs3019576 0.92001
NM_153006.3(NAGS):c.916-57T>C rs228770 0.91995
NM_001081.4(CUBN):c.594-34G>A rs2295813 0.91875
NM_001003841.3(SLC6A19):c.990A>G (p.Thr330=) rs4975629 0.91839
NM_001243279.3(ACSF3):c.51G>C (p.Ala17=) rs7201122 0.91794
NM_054012.4(ASS1):c.597+81A>G rs641510 0.91777
NM_000274.4(OAT):c.1160-59C>T rs2459217 0.91650
NM_003748.4(ALDH4A1):c.1338+39A>G rs7550822 0.91650
NM_000360.4(TH):c.695+99G>A rs7925924 0.91244
NM_000360.4(TH):c.696-126C>G rs7942881 0.91226
NM_000360.4(TH):c.1105-78A>G rs6578990 0.90803
NM_005957.5(MTHFR):c.1305C>T (p.Phe435=) rs4846051 0.90165
NM_005957.5(MTHFR):c.1752+146T>C rs7518348 0.90139
NM_001003841.3(SLC6A19):c.1538+95G>A rs6869718 0.90064
NM_001358263.1(HK1):c.75+5174A>G rs906220 0.89921
NM_054012.4(ASS1):c.838+38A>G rs1215940 0.89625
NM_020166.5(MCCC1):c.396C>T (p.Leu132=) rs7622479 0.89165
NM_003322.6(TULP1):c.200C>G (p.Thr67Arg) rs7764472 0.88862
NM_004937.3(CTNS):c.329+22C>G rs459613 0.88549
NM_002150.3(HPD):c.97A>G (p.Thr33Ala) rs1154510 0.88222
NM_020686.6(ABAT):c.667+99C>T rs8049072 0.87870
NM_018706.7(DHTKD1):c.2079C>T (p.Ile693=) rs1722462 0.87799
NM_001081.4(CUBN):c.123-16C>G rs2281648 0.87635
NM_001918.5(DBT):c.1150A>G (p.Ser384Gly) rs12021720 0.87100
NM_020686.6(ABAT):c.667+120del rs33948976 0.86768
NM_002098.6(GUCA1B):c.-17T>C rs1474867 0.86573
NM_020686.6(ABAT):c.448-15T>A rs2302608 0.86261
NM_001330260.2(SCN8A):c.4796-38C>A rs303828 0.86075
NM_004183.4(BEST1):c.867+327T>G rs195160 0.86046
NM_016011.5(MECR):c.597A>G (p.Ala199=) rs1062924 0.85930
NM_001081.4(CUBN):c.2791+9C>T rs10795440 0.85809
NM_001605.3(AARS1):c.2715T>C (p.Val905=) rs4081753 0.85676
NM_001379270.1(CNGA1):c.225-33C>T rs1972883 0.85296
NM_000277.3(PAH):c.1155C>G (p.Leu385=) rs772897 0.84953
NM_004937.3(CTNS):c.779C>T (p.Thr260Ile) rs161400 0.84806
NM_003322.6(TULP1):c.783G>C (p.Lys261Asn) rs2064318 0.84569
NM_004183.4(BEST1):c.636+44C>T rs195162 0.83711
NM_001081.4(CUBN):c.6463-22A>C rs1276713 0.83410
NM_001242957.3(MAK):c.1905T>C (p.His635=) rs126405 0.83306
NM_016011.5(MECR):c.286T>C (p.Phe96Leu) rs1128400 0.83145
NM_178857.6(RP1L1):c.1791C>T (p.Gly597=) rs6996950 0.83140
NM_201253.3(CRB1):c.849-35T>C rs1337167 0.82735
NM_000182.5(HADHA):c.1621-26G>T rs1865324 0.82473
NM_000187.4(HGD):c.342+25C>T rs2551607 0.82473
NM_000182.5(HADHA):c.1393-62A>C rs13387855 0.82463
NM_022132.5(MCCC2):c.1368A>G (p.Ala456=) rs10064079 0.82429
NM_003748.4(ALDH4A1):c.941-67T>C rs6426814 0.82332
NM_000274.4(OAT):c.648+14A>G rs9422807 0.81973
NM_000836.4(GRIN2D):c.2697T>C (p.Ala899=) rs62130268 0.81706
NM_001127222.2(CACNA1A):c.1199-31A>G rs16008 0.81362
NM_001330260.2(SCN8A):c.576C>T (p.Asp192=) rs4761829 0.81114
NM_016011.5(MECR):c.176+19G>A rs2640466 0.80531
NM_016247.4(IMPG2):c.3381C>T (p.Leu1127=) rs348867 0.80304
NM_000188.3(HK1):c.1443G>A (p.Lys481=) rs748235 0.80224
NM_000836.4(GRIN2D):c.3142T>C (p.Leu1048=) rs111420822 0.80040
NM_058179.4(PSAT1):c.-12G>C rs2277148 0.80020
NM_177972.3(TUB):c.397+26C>G rs7396690 0.79455
NM_006907.4(PYCR1):c.138+37C>T rs34419046 0.79384
NM_004483.5(GCSH):c.62C>T (p.Ser21Leu) rs8052579 0.79247
NM_000350.3(ABCA4):c.6069T>C (p.Ile2023=) rs1762114 0.78856
NM_015702.3(MMADHC):c.453G>A (p.Gln151=) rs11545261 0.78682
NM_000322.5(PRPH2):c.910C>G (p.Gln304Glu) rs390659 0.78498
NM_001330260.2(SCN8A):c.1135-48C>T rs2291265 0.78368
NM_001918.5(DBT):c.*5546G>A rs11166412 0.78278
NM_003982.4(SLC7A7):c.1527A>G (p.Lys509=) rs1061040 0.77937
NM_183050.4(BCKDHB):c.*121G>A rs926733 0.77743
NM_058179.4(PSAT1):c.570+44G>T rs944513 0.77720
NM_001297.5(CNGB1):c.2635-10C>T rs437920 0.77649
NM_054012.4(ASS1):c.597+18A>G rs652313 0.77461
NM_000322.5(PRPH2):c.1013A>G (p.Asp338Gly) rs434102 0.77412
NM_001271.4(CHD2):c.2049A>G (p.Glu683=) rs4777755 0.77324
NM_001142800.2(EYS):c.4256T>C (p.Leu1419Ser) rs624851 0.77065
NM_003748.4(ALDH4A1):c.941-48C>T rs6426813 0.76978
NM_001127222.2(CACNA1A):c.5941-205T>C rs2419233 0.76943
NM_001330260.2(SCN8A):c.3490+20G>A rs303808 0.76481
NM_002860.4(ALDH18A1):c.88+126A>C rs9787589 0.76474
NM_000048.4(ASL):c.656-102T>C rs313828 0.76440
NM_001081.4(CUBN):c.7912+25T>C rs780807 0.76044
NM_001271.4(CHD2):c.4414-45C>T rs12915582 0.75991
NM_001271.4(CHD2):c.2727+38T>G rs11074122 0.75511
NM_001271.4(CHD2):c.2718A>G (p.Gln906=) rs11074121 0.75493
NM_000341.4(SLC3A1):c.114A>C (p.Gly38=) rs3738985 0.75388
NM_000187.4(HGD):c.240A>T (p.Gln80His) rs2255543 0.75354
NM_001081.4(CUBN):c.10180+30A>G rs703062 0.75316
NM_016373.4(WWOX):c.516+6T>C rs2303191 0.75307
NM_016335.6(PRODH):c.1741C>T (p.Leu581=) rs372055 0.75175
NM_206933.4(USH2A):c.12612A>G (p.Thr4204=) rs2797235 0.74921
NM_001918.5(DBT):c.*3233C>T rs2784174 0.74803
NM_001918.5(DBT):c.*5150A>G rs6701655 0.74788
NM_000281.4(PCBD1):c.*36G>A rs9712 0.74730
NM_058179.4(PSAT1):c.741-18T>A rs3780194 0.74689
NM_001918.5(DBT):c.*6228A>T rs4281338 0.74605
NM_001081.4(CUBN):c.4563T>A (p.Ile1521=) rs1801229 0.73095
NM_001081.4(CUBN):c.4675C>T (p.Pro1559Ser) rs1801231 0.73090
NM_181697.3(PRDX1):c.107-33A>G rs2356559 0.73044
NM_000137.4(FAH):c.553+33A>G rs1545119 0.73027
NM_152419.3(HGSNAT):c.371+82C>T rs10958738 0.72852
NM_018706.7(DHTKD1):c.1671+35C>G rs10906076 0.72736
NM_001142800.2(EYS):c.5928-35T>C rs587278 0.72606
NM_014362.4(HIBCH):c.136A>G (p.Thr46Ala) rs1058180 0.72415
NM_001243279.3(ACSF3):c.5T>C (p.Leu2Pro) rs7188200 0.72412
NM_001243279.3(ACSF3):c.-20-129C>T rs7195892 0.72305
NM_001243279.3(ACSF3):c.-20-4C>G rs57558972 0.72289
NM_001510.4(GRID2):c.1251T>G (p.Gly417=) rs1385405 0.72183
NM_000137.4(FAH):c.838-196A>G rs11072883 0.72099
NM_001081.4(CUBN):c.758T>C (p.Phe253Ser) rs1801222 0.72079
NM_001243279.3(ACSF3):c.354T>C (p.Ser118=) rs6500528 0.72028
NM_001243279.3(ACSF3):c.342G>C (p.Ala114=) rs6500527 0.72026
NM_001243279.3(ACSF3):c.667-77G>C rs4782458 0.72002
NM_000240.4(MAOA):c.891G>T (p.Arg297=) rs6323 0.71997
NM_003748.4(ALDH4A1):c.1050G>C (p.Ala350=) rs2230705 0.71986
NM_001243279.3(ACSF3):c.315T>C (p.Asp105=) rs7193255 0.71937
NM_001243279.3(ACSF3):c.369C>A (p.Val123=) rs6500529 0.71928
NM_001243279.3(ACSF3):c.306C>T (p.Cys102=) rs6500526 0.71888
NM_001243279.3(ACSF3):c.822+38C>G rs4782456 0.71783
NM_032861.4(SERAC1):c.249C>T (p.Asp83=) rs6929274 0.71772
NM_032861.4(SERAC1):c.129-34C>G rs6929520 0.71770
NM_000687.3(AHCY):c.-124C>A rs819146 0.71726
NM_000048.4(ASL):c.655+124A>G rs313829 0.71689
NM_001164665.2(KIAA1549):c.3708G>T (p.Pro1236=) rs7802841 0.71421
NM_000687.4(AHCY):c.28+1345G>A rs819147 0.71293
NM_001243279.3(ACSF3):c.1114G>A (p.Val372Met) rs3743979 0.71214
NM_012463.4(ATP6V0A2):c.1515T>C (p.Asn505=) rs7135542 0.71178
NM_003748.4(ALDH4A1):c.1380T>C (p.Asp460=) rs2230708 0.71129
NM_016247.4(IMPG2):c.85+25T>G rs573908 0.71056
NM_001243279.3(ACSF3):c.822+145T>C rs4782455 0.71040
NM_001243279.3(ACSF3):c.667-31T>C rs4782457 0.71038
NM_001243279.3(ACSF3):c.667-101T>C rs7200676 0.71025
NM_001297.5(CNGB1):c.217+46G>A rs3859043 0.70935
NM_000254.3(MTR):c.3711+15G>T rs3820571 0.70934
NM_000188.3(HK1):c.1839+31G>A rs749105 0.70672
NM_014270.5(SLC7A9):c.874-39A>G rs2287879 0.70645
NM_001243279.3(ACSF3):c.666+37C>T rs8060043 0.70606
NM_001243279.3(ACSF3):c.1239+57G>C rs3743983 0.70590
NM_025136.4(OPA3):c.231T>C (p.Ala77=) rs3826860 0.70508
NM_001081.4(CUBN):c.9843A>G (p.Thr3281=) rs703064 0.70381
NM_006623.4(PHGDH):c.1209+149A>T rs627070 0.70206
NM_178857.6(RP1L1):c.3436C>T (p.Arg1146Trp) rs4840502 0.70110
NM_001243279.3(ACSF3):c.822+53_822+54del rs10578141 0.69831
NM_006623.4(PHGDH):c.1326G>A (p.Thr442=) rs543703 0.69798
NM_006721.4(ADK):c.878-71T>C rs10740443 0.69570
NM_201548.5(CERKL):c.*121C>T rs6747500 0.68932
NM_000360.4(TH):c.91-54A>G rs7925375 0.68900
NM_014251.3(SLC25A13):c.328+6A>G rs6957975 0.67687
NM_001142800.2(EYS):c.1300-3C>T rs1936439 0.67522
NM_001127222.2(CACNA1A):c.6657T>C (p.His2219=) rs16051 0.67380
NM_001142800.2(EYS):c.2555T>C (p.Leu852Pro) rs9294631 0.67363
NM_001243279.3(ACSF3):c.666+199T>C rs7194257 0.67347
NM_001142800.2(EYS):c.2641+198A>C rs10046141 0.67344
NM_004453.4(ETFDH):c.92C>T (p.Thr31Ile) rs11559290 0.67086
NM_000709.4(BCKDHA):c.853+61T>C rs284651 0.66684
NM_000709.4(BCKDHA):c.1221A>G (p.Leu407=) rs4674 0.66668
NM_000170.3(GLDC):c.*7G>C rs2228098 0.66615
NM_000709.4(BCKDHA):c.972C>T (p.Phe324=) rs284652 0.66509
NM_012463.4(ATP6V0A2):c.294+103T>C rs7301641 0.66467
NM_000709.4(BCKDHA):c.995+90C>T rs284655 0.66401
NM_012463.4(ATP6V0A2):c.426T>C (p.Asn142=) rs1139789 0.66312
NM_000282.4(PCCA):c.1644-31A>G rs9518061 0.66246
NM_002860.4(ALDH18A1):c.304-34A>G rs2275273 0.66239
NM_015702.3(MMADHC):c.479-22G>C rs12232959 0.66236
NM_000108.5(DLD):c.439-7T>C rs10263341 0.66181
NM_001127222.2(CACNA1A):c.2173-12C>T rs16018 0.66161
NM_006899.5(IDH3B):c.118-3G>C rs2073193 0.66092
NM_012463.4(ATP6V0A2):c.471T>C (p.Ser157=) rs1399961 0.66054
NM_012463.4(ATP6V0A2):c.649-114T>G rs10744159 0.66049
NM_000108.5(DLD):c.199-108T>C rs10250718 0.66040
NM_012463.4(ATP6V0A2):c.432+14C>T rs11837144 0.65907
NM_001297.5(CNGB1):c.838-36G>A rs503686 0.65836
NM_000350.3(ABCA4):c.5585-70C>T rs537831 0.65778
NM_001243279.3(ACSF3):c.1126+40G>T rs3743980 0.65690
NM_000048.4(ASL):c.978+63C>T rs2460432 0.65407
NM_000240.4(MAOA):c.1410T>C (p.Asp470=) rs1137070 0.65298
NM_002225.5(IVD):c.688-85A>G rs2289330 0.65147
NM_000137.4(FAH):c.82-74T>C rs1370276 0.65071
NM_000277.3(PAH):c.696G>A (p.Gln232=) rs1126758 0.64991
NM_003322.6(TULP1):c.499+26C>T rs2273001 0.64980
NM_001875.5(CPS1):c.2679C>G (p.Gly893=) rs2287599 0.64925
NM_016247.4(IMPG2):c.2021C>T (p.Thr674Ile) rs571391 0.64801
NM_001278064.2(GRM1):c.3168T>G (p.Gly1056=) rs6923864 0.64620
NM_001127222.2(CACNA1A):c.1198+48G>A rs2306348 0.64420
NM_000159.4(GCDH):c.*165A>G rs8012 0.64188
NM_001127222.2(CACNA1A):c.1182G>A (p.Glu394=) rs2248069 0.64010
NM_016335.6(PRODH):c.553T>C (p.Trp185Arg) rs4819756 0.63786
NM_016335.6(PRODH):c.849+23C>T rs2008903 0.63732
NM_003748.4(ALDH4A1):c.1461-137dup rs35163726 0.63623
NM_000709.4(BCKDHA):c.995+49G>A rs284654 0.63462
NM_003748.4(ALDH4A1):c.1230A>G (p.Ser410=) rs7550938 0.63458
NM_003748.4(ALDH4A1):c.1221A>G (p.Ala407=) rs2230706 0.63390
NM_001297.5(CNGB1):c.1801+23T>C rs166000 0.63352
NM_000350.3(ABCA4):c.4773+48C>T rs472908 0.62724
NM_058179.4(PSAT1):c.297T>G (p.Ala99=) rs3739474 0.62693
NM_001271.4(CHD2):c.2728-53G>A rs2272461 0.62681
NM_002225.5(IVD):c.234+14T>C rs2289331 0.62561
NM_006343.3(MERTK):c.1552A>G (p.Ile518Val) rs2230515 0.62489
NM_006343.3(MERTK):c.1397G>A (p.Arg466Lys) rs7604639 0.62439
NM_016335.6(PRODH):c.991T>C (p.Leu331=) rs1808320 0.62390
NM_001330260.2(SCN8A):c.4509T>C (p.Pro1503=) rs303815 0.62374
NM_001001563.5(TIMM50):c.108+21C>G rs2304221 0.62299
NM_000360.4(TH):c.577-22C>T rs4074905 0.62210
NM_001012720.2(RGR):c.27T>C (p.Thr9=) rs2279227 0.62051
NM_006623.3(PHGDH):c.-140A>G rs561931 0.61476
NM_002225.5(IVD):c.457-120C>T rs8034416 0.61186
NM_000341.4(SLC3A1):c.1332+7C>T rs3738984 0.61143
NM_000182.5(HADHA):c.573+32T>C rs7593175 0.61061
NM_000137.4(FAH):c.961-35C>A rs2043691 0.61029
NM_000048.4(ASL):c.12+105C>T rs1183245 0.60874
NM_002225.5(IVD):c.1065+41A>G rs11070270 0.60848
NM_183050.4(BCKDHB):c.841-73C>T rs3828753 0.60052
NM_000322.5(PRPH2):c.318T>C (p.Val106=) rs7764439 0.59853
NM_001875.5(CPS1):c.1032C>T (p.Thr344=) rs2229589 0.59558
NM_000017.4(ACADS):c.990C>T (p.Arg330=) rs3915 0.59445
NM_000137.4(FAH):c.193-23T>C rs1370274 0.59414
NM_001127222.2(CACNA1A):c.4867-71A>C rs16035 0.59301
NM_001352514.2(HLCS):c.1893-46G>T rs2073421 0.59296
NM_000709.4(BCKDHA):c.376-10A>C rs3213861 0.59120
NM_054012.4(ASS1):c.566+88C>T rs493389 0.59097
NM_000255.4(MMUT):c.2011A>G (p.Ile671Val) rs8589 0.58978
NM_014049.5(ACAD9):c.347-20C>T rs1683791 0.58733
NM_006343.3(MERTK):c.757+13T>C rs3761701 0.58627
NM_000255.4(MMUT):c.636G>A (p.Lys212=) rs2229384 0.58567
NM_201548.5(CERKL):c.1133+13T>C rs12997453 0.58511
NM_201548.5(CERKL):c.896-18T>A rs13003064 0.58461
NM_003060.4(SLC22A5):c.-207C>G rs2631367 0.58257
NM_033100.4(CDHR1):c.2439T>C (p.Thr813=) rs3814213 0.58250
NM_000283.4(PDE6B):c.*12A>G rs28675771 0.58217
NM_014003.4(DHX38):c.1308T>C (p.Ala436=) rs1050363 0.58097
NM_020166.5(MCCC1):c.1391A>C (p.His464Pro) rs2270968 0.58081
NM_003982.4(SLC7A7):c.159G>A (p.Ser53=) rs1805059 0.57983
NM_001081.4(CUBN):c.1165C>A (p.Pro389Thr) rs1801224 0.57919
NM_052845.4(MMAB):c.716T>A (p.Met239Lys) rs9593 0.57816
NM_006343.3(MERTK):c.1881A>G (p.Ser627=) rs1131244 0.57808
NM_001958.5(EEF1A2):c.594T>C (p.Gly198=) rs310617 0.57688
NM_054012.4(ASS1):c.597+178G>A rs486889 0.57370
NM_001278064.2(GRM1):c.2977T>C (p.Ser993Pro) rs6923492 0.56892
NM_000018.4(ACADVL):c.1605+6T>C rs17671352 0.56622
NM_054012.4(ASS1):c.105+115G>A rs1615006 0.56622
NM_000188.3(HK1):c.2219+27T>C rs2278745 0.56586
NM_145199.3(LIPT1):c.565T>C (p.Leu189=) rs2632277 0.56210
NM_016335.6(PRODH):c.56C>A (p.Pro19Gln) rs2008720 0.56125
NM_000350.3(ABCA4):c.4128+156C>T rs4147841 0.56024
NM_005957.5(MTHFR):c.1166+31C>T rs1994798 0.55967
NM_003982.4(SLC7A7):c.-86T>C rs2281677 0.55817
NM_001482.3(GATM):c.1252T>C (p.Leu418=) rs1145086 0.55793
NM_001278064.2(GRM1):c.3495C>A (p.Pro1165=) rs9373491 0.55222
NM_178857.6(RP1L1):c.5860A>G (p.Thr1954Ala) rs11783478 0.55174
NM_001352514.2(HLCS):c.1438-36G>A rs2073425 0.55169
NM_004171.4(SLC1A2):c.731-8T>C rs2273689 0.55092
NM_178857.6(RP1L1):c.6723A>G (p.Ser2241=) rs56382513 0.55050
NM_001164665.2(KIAA1549):c.2973C>T (p.Tyr991=) rs6969074 0.54454
NM_203288.2(RP9):c.313+44T>A rs11771864 0.54313
NM_153006.3(NAGS):c.*3C>T rs186636 0.54224
NM_001127222.2(CACNA1A):c.5731+49C>T rs3816027 0.54210
NM_000329.3(RPE65):c.644-33C>G rs1925955 0.54169
NM_000254.3(MTR):c.3576C>T (p.Leu1192=) rs1131449 0.54121
NM_001127222.2(CACNA1A):c.4089+71T>C rs16031 0.53636
NM_002497.4(NEK2):c.504T>C (p.His168=) rs701929 0.53247
NM_003982.4(SLC7A7):c.498T>C (p.Ile166=) rs8018462 0.53238
NM_002098.6(GUCA1B):c.171T>C (p.Tyr57=) rs3749921 0.53171
NM_001379270.1(CNGA1):c.-15+10300C>T rs7693648 0.52918
NM_001985.3(ETFB):c.461C>T (p.Thr154Met) rs1130426 0.52772
NM_033100.4(CDHR1):c.477A>G (p.Ala159=) rs4933975 0.52743
NM_014362.4(HIBCH):c.2T>C (p.Met1Thr) rs291466 0.52671
NM_000170.3(GLDC):c.1850+87T>A rs968197 0.52530
NM_001142800.2(EYS):c.1146T>C (p.Asn382=) rs974110 0.52503
NM_001164665.2(KIAA1549):c.1849A>G (p.Arg617Gly) rs2774962 0.52408
NM_144639.3(UROC1):c.1146-33A>G rs13072404 0.52291
NM_022367.4(SEMA4A):c.1716C>T (p.Pro572=) rs12401573 0.52167
NM_020686.6(ABAT):c.366+104C>T rs12930438 0.52142
NM_000018.4(ACADVL):c.478-106del rs370388543 0.52051
NM_000017.4(ACADS):c.321T>C (p.Arg107=) rs3914 0.51709
NM_000017.4(ACADS):c.625-99T>C rs555404 0.51701
NM_004937.3(CTNS):c.461+52G>A rs467277 0.51389
NM_001081.4(CUBN):c.5856A>G (p.Ser1952=) rs1801234 0.50897
NM_001012720.2(RGR):c.459C>T (p.Tyr153=) rs1042454 0.50840
NM_014003.4(DHX38):c.147C>G (p.Leu49=) rs1050361 0.50708
NM_001033859.2(ACADVL):c.-63_-49dup rs6145976 0.50677
NM_001142800.2(EYS):c.1809C>T (p.Val603=) rs9345601 0.50550
NM_001142800.2(EYS):c.1891G>A (p.Gly631Ser) rs9342464 0.50535
NM_145199.3(LIPT1):c.711T>C (p.Ala237=) rs2516835 0.49987
NM_001278064.2(GRM1):c.2793G>A (p.Lys931=) rs2942 0.49950
NM_001142800.2(EYS):c.1767-136T>G rs9342465 0.49843
NM_004279.3(PMPCB):c.737-3T>C rs11489600 0.49723
NM_000019.4(ACAT1):c.435+78A>C rs10890817 0.49701
NM_016373.4(WWOX):c.1057-40T>C rs384216 0.49671
NM_001297.5(CNGB1):c.2218-12C>T rs483053 0.49292
NM_001171971.3(CDHR1):c.2145G>A (p.Leu715=) rs4244947 0.49096
NM_144639.3(UROC1):c.1609-31T>G rs777479 0.48975
NM_020949.3(SLC7A14):c.1116-12C>T rs1861939 0.48925
NM_000350.3(ABCA4):c.302+26A>G rs2297634 0.48752
NM_004183.4(BEST1):c.109T>C (p.Leu37=) rs1800007 0.48331
NM_018706.7(DHTKD1):c.814T>G (p.Tyr272Asp) rs3740015 0.47407
NM_015662.3(IFT172):c.2116-31T>C rs780107 0.47348
NM_020686.6(ABAT):c.1381+46C>T rs1079349 0.47341
NM_015662.3(IFT172):c.1829+12G>A rs1647276 0.47329
NM_003748.4(ALDH4A1):c.1251C>T (p.Ala417=) rs2230707 0.47295
NM_000350.3(ABCA4):c.1240-14C>T rs4147830 0.47169
NM_018706.7(DHTKD1):c.310+40C>T rs10906066 0.46492
NM_001297.5(CNGB1):c.1122-15C>T rs2303778 0.46316
NM_014003.4(DHX38):c.2316C>A (p.Ala772=) rs2074626 0.46156
NM_014003.4(DHX38):c.1698G>A (p.Thr566=) rs2240243 0.45838
NM_001127222.2(CACNA1A):c.293+53G>A rs16003 0.45781
NM_014714.4(IFT140):c.3454-48A>G rs932391 0.45637
NM_001127222.2(CACNA1A):c.2280-68C>A rs12985136 0.45430
NM_014049.5(ACAD9):c.379A>C (p.Arg127=) rs1680778 0.45398
NM_001482.3(GATM):c.330A>T (p.Gln110His) rs1288775 0.45330
NM_003748.4(ALDH4A1):c.1579+49C>G rs28529092 0.45319
NM_002602.4(PDE6G):c.*45G>A rs8477 0.45150
NM_000137.4(FAH):c.82-13G>A rs1370275 0.45099
NM_001010898.4(SLC6A17):c.168T>C (p.Asp56=) rs7527375 0.45081
NM_178857.6(RP1L1):c.2375T>C (p.Leu792Pro) rs35602868 0.45034
NM_002454.3(MTRR):c.66A>G (p.Ile22Met) rs1801394 0.44947
NM_014714.4(IFT140):c.-17G>C rs1894649 0.44364
NM_178857.6(RP1L1):c.3956C>G (p.Ala1319Gly) rs4840501 0.44121
NM_138393.4(REEP6):c.518-113C>T rs2244794 0.44078
NM_014049.5(ACAD9):c.1150-84T>G rs1683777 0.43929
NM_014714.4(IFT140):c.148-22A>T rs2236269 0.43860
NM_138393.4(REEP6):c.518-52G>T rs2244801 0.43855
NM_001164665.2(KIAA1549):c.2546C>T (p.Ser849Leu) rs2251220 0.43675
NM_014049.5(ACAD9):c.1279-7A>G rs1683787 0.43618
NM_014049.5(ACAD9):c.1279-76T>C rs1683786 0.43547
NM_014049.5(ACAD9):c.1359-63T>C rs876754 0.43543
NM_015506.3(MMACHC):c.321G>A (p.Val107=) rs2275276 0.43226
NM_000137.4(FAH):c.455+67T>C rs2114716 0.43155
NM_000137.4(FAH):c.364+85T>G rs733679 0.43033
NM_001122633.3(CPS1):c.-16+12G>A rs17552879 0.43006
NM_014714.4(IFT140):c.1968T>C (p.Ser656=) rs8048410 0.42981
NM_032861.4(SERAC1):c.355+11A>G rs9356399 0.42562
NM_183050.4(BCKDHB):c.197-11G>T rs9448894 0.42545
NM_033100.4(CDHR1):c.1662A>G (p.Glu554=) rs10749482 0.42520
NM_002860.4(ALDH18A1):c.1606-48T>G rs2296692 0.42481
NM_002860.4(ALDH18A1):c.2207-46G>A rs7099284 0.42467
NM_000360.4(TH):c.1334+127T>C rs2070762 0.42406
NM_144639.3(UROC1):c.1845C>T (p.Ala615=) rs1687477 0.42399
NM_000170.3(GLDC):c.2839-57A>G rs2282160 0.42304
NM_003060.4(SLC22A5):c.285T>C (p.Leu95=) rs2631365 0.42203
NM_005334.3(HCFC1):c.5859C>T (p.Cys1953=) rs3027875 0.42119
NM_000481.4(AMT):c.259-109T>G rs4855873 0.42055
NM_004408.4(DNM1):c.1008C>T (p.Phe336=) rs3003609 0.41986
NM_178857.6(RP1L1):c.1540G>A (p.Gly514Ser) rs74990397 0.41802
NM_001164665.2(KIAA1549):c.1955C>T (p.Pro652Leu) rs2774960 0.41799
NM_024818.6(UBA5):c.1024+32T>C rs2305629 0.41651
NM_001739.2(CA5A):c.143-9T>A rs12922226 0.41434
NM_201253.3(CRB1):c.2677-493A>G rs7534863 0.41382
NM_178857.6(RP1L1):c.6853G>A (p.Gly2285Arg) rs55642448 0.41338
NM_001352514.2(HLCS):c.2122-30G>A rs2073420 0.40931
NM_201548.5(CERKL):c.156C>T (p.Phe52=) rs1473295 0.40745
NM_004113.6(FGF12):c.125-21C>T rs4571187 0.40463
NM_000320.3(QDPR):c.-47C>G rs2244788 0.40252
NM_178857.6(RP1L1):c.6511G>A (p.Glu2171Lys) rs4354268 0.40064
NM_005589.4(ALDH6A1):c.730+13A>C rs2072293 0.39899
NM_138393.4(REEP6):c.349-21A>G rs2244686 0.39828
NM_003060.4(SLC22A5):c.807A>G (p.Leu269=) rs274558 0.39440
NM_003060.4(SLC22A5):c.652+77A>G rs274559 0.39418
NM_003060.4(SLC22A5):c.824+13T>C rs274557 0.39418
NM_006017.3(PROM1):c.303+6G>A rs2078622 0.39397
NM_001003841.3(SLC6A19):c.306T>C (p.Gly102=) rs60992377 0.39132
NM_001142800.2(EYS):c.2260-76G>A rs9453115 0.39093
NM_002860.4(ALDH18A1):c.2206+15G>A rs10882640 0.39029
NM_001003841.3(SLC6A19):c.663+48C>T rs13180809 0.38844
NM_003748.4(ALDH4A1):c.1580-22A>T rs28700162 0.38746
NM_000539.3(RHO):c.-26A>G rs7984 0.38071
NM_001875.5(CPS1):c.3405-29A>T rs3213784 0.37981
NM_017739.4(POMGNT1):c.1027-44A>G rs7527668 0.37971
NM_183050.4(BCKDHB):c.952-151G>A rs9341811 0.37802
NM_005334.3(HCFC1):c.2841A>G (p.Pro947=) rs730106 0.37791
NM_005334.3(HCFC1):c.3490T>C (p.Ser1164Pro) rs1051152 0.37778
NM_000709.4(BCKDHA):c.995+26C>T rs284653 0.37723
NM_001001563.5(TIMM50):c.597+38T>C rs1865094 0.37722
NM_015662.3(IFT172):c.3915T>A (p.Ser1305=) rs56076827 0.37673
NM_001002755.4(NFU1):c.74T>A (p.Met25Lys) rs4453725 0.37294
NM_000532.5(PCCB):c.967-46A>G rs9833162 0.36992
NM_014714.4(IFT140):c.-31-52T>A rs743963 0.36752
NM_001003841.3(SLC6A19):c.1538+80C>T rs11746371 0.36715
NM_003322.6(TULP1):c.776T>C (p.Ile259Thr) rs2064317 0.36637
NM_000188.3(HK1):c.78C>G (p.Leu26=) rs1133189 0.36523
NM_001297.5(CNGB1):c.327C>T (p.Gly109=) rs17821448 0.36508
NM_138393.4(REEP6):c.348+28G>A rs2277748 0.36084
NM_004937.3(CTNS):c.461+49A>G rs457419 0.35954
NM_002225.5(IVD):c.688-31T>C rs2289329 0.35913
NM_004937.3(CTNS):c.141-103G>A rs222778 0.35912
NM_001876.4(CPT1A):c.2142+93C>T rs3019598 0.35902
NM_183050.4(BCKDHB):c.197-25A>G rs9448893 0.35785
NM_018368.4(LMBRD1):c.1509+22G>A rs3214021 0.35441
NM_178857.6(RP1L1):c.4032A>G (p.Thr1344=) rs4840499 0.35232
NM_001142800.2(EYS):c.6977G>A (p.Arg2326Gln) rs4710457 0.35152
NM_014251.3(SLC25A13):c.1194A>G (p.Leu398=) rs2301629 0.34968
NM_004170.6(SLC1A1):c.414G>A (p.Thr138=) rs2228622 0.34921
NM_017739.4(POMGNT1):c.681A>G (p.Lys227=) rs2292487 0.34915
NM_014252.4(SLC25A15):c.760A>T (p.Ile254Leu) rs17849654 0.34875
NM_017739.4(POMGNT1):c.951-52A>G rs7527935 0.34868
NM_017739.4(POMGNT1):c.1212-66T>C rs2292484 0.34786
NM_017739.4(POMGNT1):c.1212-81C>T rs2292485 0.34766
NM_000254.3(MTR):c.3492C>A (p.Arg1164=) rs12070777 0.34762
NM_004937.3(CTNS):c.970+70C>T rs222753 0.34692
NM_020686.6(ABAT):c.70+49T>C rs1640998 0.34626
NM_006017.3(PROM1):c.2374-6T>C rs6449209 0.34571
NM_000254.3(MTR):c.3144A>G (p.Ala1048=) rs2229276 0.34551
NM_001081.4(CUBN):c.2487G>A (p.Ser829=) rs1801225 0.34517
NM_016373.4(WWOX):c.108-12G>T rs67493355 0.34450
NM_014714.4(IFT140):c.*59T>C rs1053730 0.34440
NM_000274.4(OAT):c.1134C>T (p.Asn378=) rs11461 0.33660
NM_000159.4(GCDH):c.*288G>T rs9384 0.33464
NM_001010898.4(SLC6A17):c.169G>A (p.Ala57Thr) rs12737742 0.33411
NM_020686.6(ABAT):c.1381+9T>C rs1079348 0.33159
NM_001875.5(CPS1):c.4217C>A (p.Thr1406Asn) rs1047891 0.33052
NM_006269.2(RP1):c.2953A>T (p.Asn985Tyr) rs2293869 0.33006
NM_018368.4(LMBRD1):c.1407T>A (p.Asp469Glu) rs12648 0.32715
NM_177972.3(TUB):c.360T>C (p.Gly120=) rs4758289 0.32302
NM_000440.3(PDE6A):c.1408-34A>G rs2244836 0.31937
NM_014014.5(SNRNP200):c.5755-20A>G rs3214063 0.31866
NM_002454.3(MTRR):c.524C>T (p.Ser175Leu) rs1532268 0.31601
NM_000360.4(TH):c.241G>A (p.Val81Met) rs6356 0.31555
NM_000108.5(DLD):c.*18A>T rs8721 0.31455
NM_000108.5(DLD):c.438+83G>A rs17412104 0.31437
NM_001010867.4(IBA57):c.134G>C (p.Gly45Ala) rs55873785 0.31221
NM_002454.3(MTRR):c.1911G>A (p.Ala637=) rs1802059 0.31218
NM_000159.4(GCDH):c.127+64G>C rs1799918 0.31118
NM_001918.5(DBT):c.1210-9A>T rs34229137 0.31080
NM_000071.3(CBS):c.1080C>T (p.Ala360=) rs1801181 0.30942
NM_000159.4(GCDH):c.1173G>T (p.Gly391=) rs1060218 0.30844
NM_000016.6(ACADM):c.286+178G>A rs3818855 0.30613
NM_000016.6(ACADM):c.387+32C>G rs2153126 0.30601
NM_000016.6(ACADM):c.216+10T>C rs2275378 0.30596
NM_001297.5(CNGB1):c.2193C>T (p.Asn731=) rs376270 0.30588
NM_005050.4(ABCD4):c.910G>A (p.Ala304Thr) rs4148077 0.30526
NM_005050.4(ABCD4):c.1102G>A (p.Glu368Lys) rs3742801 0.30506
NM_006859.4(LIAS):c.884-14T>A rs2125314 0.30396
NM_001918.5(DBT):c.*5317T>C rs11166413 0.30273
NM_001029883.3(PCARE):c.2112T>C (p.Asn704=) rs10200693 0.30236
NM_014714.4(IFT140):c.2253T>C (p.Pro751=) rs2076436 0.30184
NM_205861.3(DHDDS):c.757G>A (p.Val253Met) rs3816539 0.30121
NM_001609.4(ACADSB):c.38G>A (p.Arg13Lys) rs12263012 0.30009
NM_001029883.3(PCARE):c.1452C>T (p.Ser484=) rs13385188 0.29962
NM_001875.5(CPS1):c.3405-92G>T rs34449727 0.29855
NM_005050.4(ABCD4):c.981C>A (p.Leu327=) rs4148078 0.29827
NM_005050.4(ABCD4):c.184T>C (p.Leu62=) rs2301345 0.29779
NM_001142800.2(EYS):c.6834+61T>G rs66502009 0.29500
NM_020949.3(SLC7A14):c.1173G>A (p.Ser391=) rs3732449 0.29156
NM_000071.3(CBS):c.699C>T (p.Tyr233=) rs234706 0.28613
NM_000481.4(AMT):c.954G>A (p.Arg318=) rs11715915 0.28593
NM_000320.3(QDPR):c.396G>A (p.Leu132=) rs2597775 0.28406
NM_153006.3(NAGS):c.1096+20C>G rs228771 0.28327
NM_001271.4(CHD2):c.5416A>C (p.Arg1806=) rs12906163 0.28315
NM_001029883.3(PCARE):c.*27G>A rs10182566 0.28227
NM_003611.3(OFD1):c.1129+16A>G rs3815049 0.28069
NM_178857.6(RP1L1):c.4484C>G (p.Pro1495Arg) rs4841399 0.28031
NM_002860.4(ALDH18A1):c.2110+24A>T rs2296691 0.27977
NM_000019.4(ACAT1):c.13G>C (p.Ala5Pro) rs3741056 0.27945
NM_016373.4(WWOX):c.-5C>T rs11545028 0.27934
NM_138393.4(REEP6):c.116-16C>T rs12459408 0.27902
NM_000274.4(OAT):c.199+19C>T rs10794058 0.27706
NM_000322.5(PRPH2):c.*13C>T rs361524 0.27666
NM_000360.4(TH):c.977+8C>G rs12419447 0.27597
NM_014014.5(SNRNP200):c.5317C>T (p.Leu1773=) rs772175 0.27589
NM_001142800.2(EYS):c.6078+68A>G rs36133910 0.27370
NM_001142800.2(EYS):c.5705A>T (p.Asn1902Ile) rs9353806 0.27343
NM_000254.3(MTR):c.2594+15T>C rs1770449 0.27320
NM_000191.3(HMGCL):c.877-72T>C rs2076343 0.27156
NM_000170.3(GLDC):c.2315+80C>G rs12683164 0.27069
NM_032601.4(MCEE):c.227C>T (p.Ala76Val) rs11541017 0.26738
NM_004171.4(SLC1A2):c.1221A>G (p.Val407=) rs1042113 0.26392
NM_000019.4(ACAT1):c.1005+25C>T rs10890819 0.26160
NM_000019.4(ACAT1):c.-9T>A rs3741055 0.26111
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala) rs1801131 0.25830
NM_014049.5(ACAD9):c.555-116C>G rs789213 0.25543
NM_004172.5(SLC1A3):c.*33G>A rs2229894 0.25443
NM_000170.3(GLDC):c.1261+72G>A rs6477094 0.25439
NM_001003841.3(SLC6A19):c.1017-4G>A rs35329108 0.25295
NM_000137.4(FAH):c.960+115G>A rs2162550 0.25281
NM_000016.6(ACADM):c.469-22C>A rs12127402 0.25202
NM_001010867.4(IBA57):c.631G>A (p.Gly211Ser) rs2298014 0.25152
NM_006269.2(RP1):c.5071T>C (p.Ser1691Pro) rs414352 0.25064
NM_138393.4(REEP6):c.518-29C>T rs2292456 0.25032
NM_001243279.3(ACSF3):c.1347G>A (p.Leu449=) rs12447947 0.24857
NM_201548.5(CERKL):c.677+665G>T rs7604902 0.24851
NM_014714.4(IFT140):c.4041-44T>C rs2076434 0.24775
NM_001875.5(CPS1):c.3756+45C>T rs6435580 0.24723
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602 0.24593
NM_006269.2(RP1):c.2615G>A (p.Arg872His) rs444772 0.24558
NM_001127222.2(CACNA1A):c.4756-97G>A rs8103699 0.24285
NM_014049.5(ACAD9):c.1476C>T (p.Pro492=) rs876755 0.24221
NM_016373.4(WWOX):c.606-17G>A rs4130513 0.24208
NM_201548.5(CERKL):c.239-49T>C rs6433924 0.24146
NM_001875.5(CPS1):c.2830-138C>T rs2302908 0.24132
NM_152419.3(HGSNAT):c.1377+20G>A rs17603428 0.24049
NM_000360.4(TH):c.720G>A (p.Lys240=) rs6357 0.23916
NM_000019.4(ACAT1):c.238+134A>C rs7931681 0.23898
NM_000016.6(ACADM):c.31-32C>G rs7524467 0.23867
NM_000016.6(ACADM):c.945+99T>C rs11161521 0.23825
NM_000016.6(ACADM):c.1161A>G (p.Val387=) rs1061337 0.23824
NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=) rs1801574 0.23813
NM_178857.6(RP1L1):c.5666A>T (p.Asp1889Val) rs28446662 0.23658
NM_001902.6(CTH):c.1208G>T (p.Ser403Ile) rs1021737 0.23572
NM_006343.3(MERTK):c.1296+28T>G rs57297275 0.23549
NM_014714.4(IFT140):c.147+109G>A rs7192480 0.23445
NM_000137.4(FAH):c.706+79A>G rs7180031 0.23394
NM_001271.4(CHD2):c.3564C>T (p.Tyr1188=) rs2272457 0.23362
NM_001374377.1(FAH):c.-30+45G>C rs112474268 0.23230
NM_000277.3(PAH):c.353-22C>T rs2037639 0.23047
NM_201548.5(CERKL):c.239-12T>A rs6433923 0.22971
NM_006343.3(MERTK):c.1494C>T (p.Asn498=) rs3811634 0.22888
NM_006343.3(MERTK):c.1451-20G>A rs3811633 0.22861
NM_001609.4(ACADSB):c.639C>T (p.His213=) rs1140591 0.22709
NM_000360.4(TH):c.313-88G>A rs4930043 0.22682
NM_015506.3(MMACHC):c.*279A>G rs9729395 0.22677
NM_000170.3(GLDC):c.501G>A (p.Glu167=) rs35374927 0.22564
NM_006017.3(PROM1):c.2582+43C>T rs11725522 0.22440
NM_014014.5(SNRNP200):c.3550T>C (p.Leu1184=) rs3171927 0.22368
NM_004183.4(BEST1):c.1410G>A (p.Thr470=) rs149698 0.22214
NM_004171.4(SLC1A2):c.603G>A (p.Pro201=) rs752949 0.22188
NM_004171.4(SLC1A2):c.562-36T>C rs3895234 0.22153
NM_000161.3(GCH1):c.*243C>T rs841 0.22091
NM_006343.3(MERTK):c.583+10C>T rs11683694 0.22086
NM_003038.5(SLC1A4):c.1195G>A (p.Val399Ile) rs759458 0.21847
NM_000170.3(GLDC):c.249G>A (p.Gly83=) rs12341698 0.21682
NM_000017.4(ACADS):c.*21G>C rs3916 0.21460
NM_006269.2(RP1):c.5008G>A (p.Ala1670Thr) rs446227 0.21425
NM_004937.3(CTNS):c.*405G>A rs760273 0.21386
NM_001081.4(CUBN):c.939C>T (p.Asn313=) rs1801223 0.21191
NM_000254.3(MTR):c.2756A>G (p.Asp919Gly) rs1805087 0.21137
NM_001958.5(EEF1A2):c.772+31C>A rs12480745 0.21133
NM_004171.4(SLC1A2):c.311-37A>G rs10836370 0.20991
NM_002454.3(MTRR):c.537T>C (p.Leu179=) rs161870 0.20980
NM_002454.3(MTRR):c.1049A>G (p.Lys350Arg) rs162036 0.20973
NM_000170.3(GLDC):c.1261+36A>G rs11789777 0.20837
NM_006269.2(RP1):c.5175A>G (p.Gln1725=) rs441800 0.20759
NM_001201543.2(FAM161A):c.184-33G>A rs11125896 0.20547
NM_031885.5(BBS2):c.367A>G (p.Ile123Val) rs11373 0.20545
NM_000350.3(ABCA4):c.5814A>G (p.Leu1938=) rs4147857 0.20473
NM_006343.3(MERTK):c.353G>A (p.Ser118Asn) rs13027171 0.20460
NM_000350.3(ABCA4):c.5715-25A>C rs4147856 0.20432
NM_006017.3(PROM1):c.2281-6C>G rs3815344 0.20394
NM_000350.3(ABCA4):c.5836-11G>A rs1800739 0.20309
NM_003982.4(SLC7A7):c.500-32T>C rs11568429 0.20244
NM_000328.3(RPGR):c.2241+11T>C rs4084271 0.20121
NM_000350.3(ABCA4):c.5836-43C>A rs2275031 0.19847
NM_000277.3(PAH):c.735G>A (p.Val245=) rs1042503 0.19782
NM_001001563.5(TIMM50):c.696+38G>A rs8112528 0.19648
NM_000350.3(ABCA4):c.5844A>G (p.Pro1948=) rs2275029 0.19626
NM_004171.4(SLC1A2):c.157+31C>G rs2273687 0.19605
NM_001142800.2(EYS):c.3444-5C>T rs9445051 0.19475
NM_004937.3(CTNS):c.*300C>G rs2873624 0.19455
NM_004937.3(CTNS):c.*421T>C rs760274 0.19404
NM_004937.3(CTNS):c.*410A>G rs3826496 0.19387
NM_005334.3(HCFC1):c.713-13C>T rs59607260 0.19358
NM_005334.3(HCFC1):c.4185G>A (p.Ala1395=) rs2071133 0.19260
NM_005334.3(HCFC1):c.1085-22C>G rs17421 0.19150
NM_004172.5(SLC1A3):c.1289+22C>T rs3733811 0.19119
NM_014714.4(IFT140):c.2919C>T (p.Ala973=) rs2235640 0.19119
NM_001081.4(CUBN):c.5343-8C>A rs2271463 0.19092
NM_006859.4(LIAS):c.45+15G>A rs2687959 0.18886
NM_003982.4(SLC7A7):c.660T>C (p.Gly220=) rs1805061 0.18661
NM_001271.4(CHD2):c.4692+43A>G rs2119010 0.18154
NM_178857.6(RP1L1):c.665A>C (p.His222Pro) rs4388421 0.17875
NM_000240.4(MAOA):c.385A>C (p.Arg129=) rs1800464 0.17743
NM_000182.5(HADHA):c.573+26G>C rs35746418 0.17547
NM_000182.5(HADHA):c.67+51G>T rs62128457 0.17544
NM_001271.4(CHD2):c.5154-74C>T rs12905033 0.17307
NM_001271.4(CHD2):c.5154-75C>T rs12905032 0.17303
NM_032601.4(MCEE):c.311G>T (p.Arg104Leu) rs6748672 0.17242
NM_001201543.2(FAM161A):c.1584-11G>A rs17513666 0.17214
NM_001201543.2(FAM161A):c.706A>G (p.Ile236Val) rs17513722 0.17102
NM_000182.5(HADHA):c.180+69G>C rs2303892 0.17014
NM_000182.5(HADHA):c.474C>T (p.Tyr158=) rs11552518 0.16973
NM_000182.5(HADHA):c.68-82T>A rs12987980 0.16953
NM_005802.5(TOPORS):c.2319T>C (p.Ser773=) rs10971019 0.16858
NM_000182.5(HADHA):c.315-44A>C rs3892649 0.16834
NM_000019.4(ACAT1):c.471C>A (p.Ser157=) rs35188041 0.16806
NM_000353.3(TAT):c.43C>T (p.Pro15Ser) rs74344827 0.16727
NM_001081.4(CUBN):c.9030T>C (p.Ala3010=) rs1801241 0.16648
NM_001739.2(CA5A):c.807A>T (p.Ala269=) rs72816311 0.16645
NM_001142800.2(EYS):c.1922A>T (p.Glu641Val) rs17411795 0.16501
NM_153006.3(NAGS):c.1086T>C (p.Phe362=) rs55708447 0.16339
NM_203288.2(RP9):c.629A>G (p.Lys210Arg) rs150987618 0.16255
NM_031885.5(BBS2):c.613-54C>G rs4784675 0.16235
NM_001739.2(CA5A):c.453C>T (p.Pro151=) rs7186698 0.16216
NM_001201543.2(FAM161A):c.321A>G (p.Ile107Met) rs11125895 0.16195
NM_003982.4(SLC7A7):c.1430-55T>C rs11568422 0.16163
NM_005334.3(HCFC1):c.4542G>T (p.Leu1514=) rs3027878 0.16009
NM_005334.3(HCFC1):c.2283C>G (p.Thr761=) rs2071134 0.15977
NM_000329.3(RPE65):c.1056G>A (p.Glu352=) rs12145904 0.15903
NM_001029883.3(PCARE):c.2374C>G (p.Leu792Val) rs17744093 0.15871
NM_000274.4(OAT):c.901-22T>C rs17619406 0.15809
NM_001029883.3(PCARE):c.60G>A (p.Gln20=) rs35929540 0.15707
NM_001029883.3(PCARE):c.2499G>A (p.Pro833=) rs34253433 0.15556
NM_000532.5(PCCB):c.654+20T>C rs3821445 0.15527
NM_004937.3(CTNS):c.461+54G>A rs12938401 0.15247
NM_201548.5(CERKL):c.242A>C (p.Asp81Ala) rs61750041 0.15130
NM_001029883.3(PCARE):c.258G>A (p.Arg86=) rs62132765 0.15123
NM_001142800.2(EYS):c.2847-157A>G rs58449017 0.14846
NM_004937.3(CTNS):c.504G>A (p.Thr168=) rs1800528 0.14800
NM_000156.6(GAMT):c.460-31G>A rs55776826 0.14411
NM_000126.4(ETFA):c.39+12C>G rs62027051 0.14273
NM_000282.4(PCCA):c.627A>G (p.Ala209=) rs538229 0.14245
NM_001081.4(CUBN):c.4970-22A>C rs74668791 0.13460
NM_001081.4(CUBN):c.5803A>G (p.Ser1935Gly) rs41289305 0.13356
NM_001142800.2(EYS):c.1712A>G (p.Gln571Arg) rs61753610 0.12981
NM_001918.5(DBT):c.*6903T>A rs10783125 0.12973
NM_003982.4(SLC7A7):c.1095+111A>G rs12891079 0.12518
NM_178857.6(RP1L1):c.6209A>T (p.Glu2070Val) rs11782670 0.12322
NM_000137.4(FAH):c.*94T>C rs1049194 0.12301
NM_054012.4(ASS1):c.501C>T (p.His167=) rs10901072 0.12154
NM_001918.5(DBT):c.*9082C>T rs72728160 0.12046
NM_014252.4(SLC25A15):c.333C>T (p.Ala111=) rs9577152 0.11997
NM_001352514.2(HLCS):c.1275C>T (p.Ser425=) rs1065758 0.11920
NM_001034853.2(RPGR):c.1164G>A (p.Ala388=) rs1801686 0.11812
NM_002225.5(IVD):c.723C>T (p.Asp241=) rs2229312 0.11757
NM_178857.6(RP1L1):c.6264G>T (p.Gln2088His) rs11778341 0.11690
NM_000317.3(PTS):c.163+14T>C rs3819331 0.10984
NM_000108.5(DLD):c.*28G>T rs17154615 0.10964
NM_001142800.2(EYS):c.3906C>T (p.His1302=) rs12663916 0.10887
NM_054012.4(ASS1):c.876T>C (p.His292=) rs1057484 0.10667
NM_001142800.2(EYS):c.5244A>C (p.Leu1748Phe) rs57312007 0.10595
NM_014049.5(ACAD9):c.1358+152T>C rs13081342 0.10526
NM_002860.4(ALDH18A1):c.896C>T (p.Thr299Ile) rs2275272 0.10214
NM_001142800.2(EYS):c.3936A>G (p.Thr1312=) rs12662610 0.10143
NM_000709.3(BCKDHA):c.-34T>G rs45500792 0.09943
NM_006017.3(PROM1):c.1003-35A>C rs2286458 0.09908
NM_178857.6(RP1L1):c.610-13G>A rs62490859 0.09888
NM_001142800.2(EYS):c.4352T>C (p.Ile1451Thr) rs62415828 0.09865
NM_001142800.2(EYS):c.4026C>T (p.Ser1342=) rs12663619 0.09859
NM_001142800.2(EYS):c.4593G>A (p.Glu1531=) rs62415825 0.09856
NM_001142800.2(EYS):c.4081A>G (p.Ile1361Val) rs17403955 0.09853
NM_001142800.2(EYS):c.3787A>G (p.Ile1263Val) rs17404123 0.09852
NM_001142800.2(EYS):c.3973C>G (p.Gln1325Glu) rs12663622 0.09847
NM_001142800.2(EYS):c.4543C>T (p.Arg1515Trp) rs62415827 0.09842
NM_001142800.2(EYS):c.4549A>G (p.Ser1517Gly) rs62415826 0.09832
NM_001875.5(CPS1):c.2193-15G>T rs2287600 0.09707
NM_005957.5(MTHFR):c.1056C>T (p.Ser352=) rs2066462 0.09546
NM_003060.4(SLC22A5):c.*47C>T rs1045020 0.09512
NM_177550.5(SLC13A5):c.1092C>T (p.Ala364=) rs55698160 0.09334
NM_001142800.2(EYS):c.862+87T>C rs4710522 0.09325
NM_005629.4(SLC6A8):c.394+88G>A rs6643763 0.09180
NM_001142800.2(EYS):c.7666A>T (p.Ser2556Cys) rs66462731 0.08861
NM_001164665.2(KIAA1549):c.2301T>C (p.Thr767=) rs61746879 0.08707
NM_001876.4(CPT1A):c.963G>A (p.Glu321=) rs2229737 0.08543
NM_014252.4(SLC25A15):c.117G>A (p.Thr39=) rs41396747 0.08535
NM_001698.3(AUH):c.331-6G>A rs10991898 0.08502
NM_001876.4(CPT1A):c.968-8C>T rs2305507 0.08414
NM_006343.3(MERTK):c.2608G>A (p.Val870Ile) rs2230517 0.08379
NM_000709.4(BCKDHA):c.116C>A (p.Pro39His) rs11549936 0.07892
NM_003060.4(SLC22A5):c.394-296C>T rs2073642 0.07739
NM_000539.3(RHO):c.696+4C>T rs56340615 0.07633
NM_031885.5(BBS2):c.-40T>C rs115078074 0.07623
NM_031885.5(BBS2):c.-42T>G rs78076550 0.07623
NM_000137.4(FAH):c.267G>C (p.Leu89=) rs33929922 0.07529
NM_003060.4(SLC22A5):c.-77G>A rs13180295 0.07424
NM_003060.4(SLC22A5):c.-78C>T rs13180043 0.07424
NM_016373.4(WWOX):c.844C>G (p.Pro282Ala) rs3764340 0.07330
NM_000126.4(ETFA):c.817-32A>G rs62030234 0.07095
NM_201253.3(CRB1):c.*28T>C rs41302107 0.07060
NM_000156.6(GAMT):c.626C>T (p.Thr209Met) rs17851582 0.07010
NM_003060.4(SLC22A5):c.1052+101A>G rs2073645 0.06948
NM_002900.3(RBP3):c.-13C>T rs41284964 0.06850
NM_177550.5(SLC13A5):c.1005C>T (p.Pro335=) rs56224509 0.06724
NM_183050.4(BCKDHB):c.344-24C>T rs73479953 0.06567
NM_000126.4(ETFA):c.512C>T (p.Thr171Ile) rs1801591 0.06414
NM_025136.3(OPA3):c.-75G>A rs45598532 0.06189
NM_001081.4(CUBN):c.618C>T (p.Tyr206=) rs41289313 0.06126
NM_000137.4(FAH):c.1056C>T (p.Ser352=) rs1801374 0.06041
NM_006343.3(MERTK):c.2916G>A (p.Ser972=) rs10205793 0.06012
NM_001081.4(CUBN):c.1245T>C (p.Gly415=) rs12571671 0.05965
NM_001876.4(CPT1A):c.823G>A (p.Ala275Thr) rs2229738 0.05682
NM_017739.4(POMGNT1):c.1895+30A>G rs113174528 0.05532
NM_001164665.2(KIAA1549):c.2800G>A (p.Asp934Asn) rs2150283 0.05297
NM_001164665.2(KIAA1549):c.2666G>T (p.Gly889Val) rs2354336 0.05287
NM_001164665.2(KIAA1549):c.1940C>G (p.Ser647Cys) rs61734132 0.05285
NM_000159.4(GCDH):c.127+48T>C rs3745647 0.04947
NM_206933.4(USH2A):c.8681+120G>A rs56301415 0.04758
NM_001918.5(DBT):c.1210-10T>A rs183058253 0.04736
NM_001918.5(DBT):c.*4395G>A rs79471979 0.04616
NM_206933.4(USH2A):c.15522T>C (p.Tyr5174=) rs77792891 0.04524
NM_004113.6(FGF12):c.229-7C>T rs79608878 0.04458
NM_001918.5(DBT):c.*985C>T rs11166414 0.04442
NM_206933.4(USH2A):c.11736G>A (p.Glu3912=) rs56053654 0.04404
NM_206933.4(USH2A):c.11907A>T (p.Pro3969=) rs61635304 0.04389
NM_001918.5(DBT):c.*5838G>A rs79887429 0.04380
NM_032861.4(SERAC1):c.1016-11C>T rs41269577 0.04319
NM_000048.4(ASL):c.602+13C>T rs12536292 0.04315
NM_017739.4(POMGNT1):c.235+33T>G rs41309197 0.04222
NM_206933.4(USH2A):c.6587G>C (p.Ser2196Thr) rs79444516 0.04057
NM_000016.6(ACADM):c.*39G>A rs17848065 0.04004
NM_005957.5(MTHFR):c.1781G>A (p.Arg594Gln) rs2274976 0.03996
NM_006343.3(MERTK):c.61+19G>A rs115821982 0.03962
NM_000317.3(PTS):c.405T>C (p.Thr135=) rs59731976 0.03898
NM_016373.4(WWOX):c.646C>G (p.Leu216Val) rs7201683 0.03724
NM_000328.3(RPGR):c.2149+46C>T rs41312110 0.03703
NM_001918.5(DBT):c.715A>G (p.Ile239Val) rs72973763 0.03442
NM_000126.4(ETFA):c.733+38T>C rs78052129 0.03317
NM_000017.4(ACADS):c.511C>T (p.Arg171Trp) rs1800556 0.03280
NM_016373.4(WWOX):c.941G>A (p.Arg314His) rs73572838 0.03269
NM_206933.4(USH2A):c.4627+699C>A rs59704861 0.03223
NM_025136.4(OPA3):c.142+69G>C rs62111684 0.03152
NM_003982.4(SLC7A7):c.456C>T (p.Phe152=) rs8016634 0.03113
NM_206933.4(USH2A):c.8624G>A (p.Arg2875Gln) rs12118814 0.03107
NM_014252.4(SLC25A15):c.*48T>A rs145530626 0.03065
NM_000329.3(RPE65):c.1338+20A>C rs12564647 0.03055
NM_000329.3(RPE65):c.643+22C>T rs2274321 0.03055
NM_001918.5(DBT):c.1281+31T>G rs115696850 0.03046
NM_001918.5(DBT):c.*6646G>T rs72973747 0.03031
NM_206933.4(USH2A):c.10836C>A (p.Val3612=) rs61276761 0.02977
NM_003060.4(SLC22A5):c.393+17G>A rs11568522 0.02888
NM_001081.4(CUBN):c.3417A>G (p.Leu1139=) rs1801228 0.02872
NM_000531.6(OTC):c.809A>G (p.Gln270Arg) rs1800328 0.02868
NM_015506.3(MMACHC):c.178G>C (p.Asp60His) rs6662272 0.02835
NM_017739.4(POMGNT1):c.1111-23C>T rs2292486 0.02728
NM_032861.4(SERAC1):c.1403+12G>A rs117813106 0.02692
NM_014049.5(ACAD9):c.976G>A (p.Ala326Thr) rs115532916 0.02662
NM_001918.5(DBT):c.*344G>T rs58607634 0.02661
NM_016373.4(WWOX):c.547G>A (p.Asp183Asn) rs74944733 0.02435
NM_177550.5(SLC13A5):c.369-14C>T rs218677 0.02396
NM_003060.4(SLC22A5):c.1645C>T (p.Pro549Ser) rs11568525 0.02345
NM_003060.4(SLC22A5):c.430C>T (p.Leu144Phe) rs10040427 0.02340
NM_025136.4(OPA3):c.-38A>G rs45527139 0.02241
NM_001243279.3(ACSF3):c.996A>T (p.Ser332=) rs75591977 0.02239
NM_206933.4(USH2A):c.14481C>T (p.Ala4827=) rs41304083 0.02229
NM_000016.6(ACADM):c.31-73T>C rs142795930 0.02211
NM_032861.4(SERAC1):c.139T>A (p.Phe47Ile) rs112780453 0.02065
NM_206933.4(USH2A):c.573A>G (p.Val191=) rs73102592 0.02039
NM_001352514.2(HLCS):c.*40A>G rs77014096 0.02028
NM_001081.4(CUBN):c.7724C>G (p.Pro2575Arg) rs3740168 0.02019
NM_206933.4(USH2A):c.6875G>A (p.Arg2292His) rs41277210 0.02015
NM_001142800.2(EYS):c.2733T>C (p.Asn911=) rs75634595 0.01917
NM_206933.4(USH2A):c.13297G>T (p.Val4433Leu) rs111033381 0.01895
NM_000137.4(FAH):c.455+29G>A rs2278204 0.01872
NM_001875.5(CPS1):c.2448C>T (p.Cys816=) rs75395645 0.01788
NM_002454.3(MTRR):c.1761T>C (p.Tyr587=) rs6874544 0.01706
NM_206933.4(USH2A):c.5857+17A>C rs74766738 0.01694
NM_006623.4(PHGDH):c.139-13T>C rs894078 0.01680
NM_001876.4(CPT1A):c.967+3G>A rs75677837 0.01623
NM_003982.4(SLC7A7):c.272C>T (p.Ala91Val) rs11568438 0.01617
NM_032861.4(SERAC1):c.1293G>A (p.Thr431=) rs73797641 0.01607
NM_206933.4(USH2A):c.6369C>T (p.Cys2123=) rs111033472 0.01557
NM_016373.4(WWOX):c.108-12del rs149533117 0.01497
NM_016373.4(WWOX):c.293C>T (p.Pro98Leu) rs144601717 0.01477
NM_005957.5(MTHFR):c.1958C>T (p.Thr653Met) rs35737219 0.01462
NM_206933.4(USH2A):c.4371G>A (p.Ser1457=) rs56013136 0.01440
NM_031885.5(BBS2):c.1413A>C (p.Val471=) rs35294865 0.01415
NM_000048.4(ASL):c.1164C>T (p.His388=) rs75300185 0.01380
NM_015506.3(MMACHC):c.738C>T (p.Pro246=) rs16832550 0.01337
NM_016373.4(WWOX):c.1238C>A (p.Ser413Tyr) rs117065412 0.01316
NM_001918.5(DBT):c.*5919A>G rs115442245 0.01236
NM_016373.4(WWOX):c.351C>G (p.Leu117=) rs34944716 0.01231
NM_020166.5(MCCC1):c.1614G>A (p.Ser538=) rs34749281 0.01204
NM_206933.4(USH2A):c.5572+15G>A rs17026052 0.01200
NM_206933.4(USH2A):c.13984C>G (p.Gln4662Glu) rs41302237 0.01191
NM_006623.4(PHGDH):c.792+6T>G rs146953046 0.01118
NM_206933.4(USH2A):c.7301-65C>T rs41277204 0.01115
NM_206933.4(USH2A):c.9213G>A (p.Ser3071=) rs111033397 0.01111
NM_001876.4(CPT1A):c.556-19T>G rs117610994 0.00984
NM_206933.4(USH2A):c.4440C>T (p.Ser1480=) rs111632670 0.00984
NM_206933.4(USH2A):c.7584C>T (p.Thr2528=) rs78250390 0.00976
NM_003982.4(SLC7A7):c.96G>A (p.Lys32=) rs45479698 0.00958
NM_206933.4(USH2A):c.12445T>C (p.Trp4149Arg) rs115884084 0.00956
NM_000255.4(MMUT):c.711A>G (p.Pro237=) rs138085432 0.00930
NM_177550.5(SLC13A5):c.1101A>G (p.Leu367=) rs61520357 0.00918
NM_006623.4(PHGDH):c.357-17T>C rs76447100 0.00863
NM_206933.4(USH2A):c.14333C>A (p.Ala4778Asp) rs113447586 0.00830
NM_001081.4(CUBN):c.6788T>G (p.Phe2263Cys) rs2271460 0.00803
NM_000360.4(TH):c.487+3G>A rs11042950 0.00795
NM_000191.3(HMGCL):c.48G>A (p.Ala16=) rs115611440 0.00769
NM_206933.4(USH2A):c.8558+40C>A rs55713064 0.00762
NM_206933.4(USH2A):c.11048-15C>T rs74141403 0.00740
NM_206933.4(USH2A):c.9959-11T>G rs116150014 0.00724
NM_206933.4(USH2A):c.10552G>A (p.Val3518Ile) rs75397806 0.00696
NM_016373.4(WWOX):c.754C>G (p.Pro252Ala) rs75559202 0.00684
NM_206933.4(USH2A):c.9723C>T (p.Tyr3241=) rs6660707 0.00683
NM_016373.4(WWOX):c.613C>A (p.His205Asn) rs74860463 0.00674
NM_206933.4(USH2A):c.848+5G>C rs74329863 0.00641
NM_001010898.4(SLC6A17):c.2036A>G (p.Lys679Arg) rs41313405 0.00603
NM_003982.4(SLC7A7):c.1119G>A (p.Leu373=) rs1805062 0.00578
NM_032861.4(SERAC1):c.739-10T>G rs118093738 0.00555
NM_206933.4(USH2A):c.14226G>A (p.Thr4742=) rs78576418 0.00545
NM_016373.4(WWOX):c.358C>T (p.Arg120Trp) rs141361080 0.00523
NM_000137.4(FAH):c.315-14G>A rs139830755 0.00521
NM_206933.4(USH2A):c.13440G>A (p.Arg4480=) rs111033378 0.00488
NM_022367.4(SEMA4A):c.1434+12C>A rs114835695 0.00483
NM_206933.4(USH2A):c.5517G>A (p.Val1839=) rs111033421 0.00479
NM_016373.4(WWOX):c.835C>T (p.Arg279Cys) rs77314072 0.00444
NM_206933.4(USH2A):c.7160T>C (p.Met2387Thr) rs115015305 0.00441
NM_206933.4(USH2A):c.9459C>T (p.Cys3153=) rs73090721 0.00422
NM_206933.4(USH2A):c.11794C>T (p.Leu3932=) rs111033505 0.00418
NM_032861.4(SERAC1):c.1134C>T (p.Gly378=) rs116763934 0.00417
NM_206933.4(USH2A):c.6270A>G (p.Leu2090=) rs56245532 0.00414
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_001142800.2(EYS):c.281C>A (p.Pro94Gln) rs111947397 0.00404
NM_206933.4(USH2A):c.8937A>G (p.Val2979=) rs139100097 0.00404
NM_206933.4(USH2A):c.8319C>T (p.Ser2773=) rs56829872 0.00393
NM_003060.4(SLC22A5):c.1451-16G>A rs140988771 0.00371
NM_003060.4(SLC22A5):c.1249A>G (p.Met417Val) rs139775414 0.00365
NM_003060.4(SLC22A5):c.59T>A (p.Leu20His) rs144020613 0.00362
NM_000360.4(TH):c.267G>A (p.Arg89=) rs76240471 0.00359
NM_206933.4(USH2A):c.14543G>A (p.Arg4848Gln) rs77211159 0.00354
NM_001918.5(DBT):c.506G>A (p.Arg169Gln) rs34267966 0.00341
NM_003060.4(SLC22A5):c.1368A>G (p.Thr456=) rs142355575 0.00335
NM_003060.4(SLC22A5):c.1590G>T (p.Met530Ile) rs148233131 0.00335
NM_001243279.3(ACSF3):c.823-26T>C rs9921293 0.00317
NM_000191.3(HMGCL):c.393A>G (p.Ser131=) rs56218308 0.00290
NM_016335.6(PRODH):c.1562G>A (p.Arg521Gln) rs450046 0.00287
NM_016373.4(WWOX):c.*3G>T rs140060332 0.00275
NM_003982.4(SLC7A7):c.720A>C (p.Ser240=) rs151261004 0.00274
NM_016373.4(WWOX):c.1134C>T (p.Asn378=) rs201088847 0.00274
NM_206933.4(USH2A):c.6236A>C (p.Lys2079Thr) rs147039836 0.00260
NM_032861.4(SERAC1):c.917G>A (p.Arg306Gln) rs114943513 0.00253
NM_177550.5(SLC13A5):c.426G>A (p.Thr142=) rs72836208 0.00250
NM_005629.4(SLC6A8):c.1494C>T (p.Tyr498=) rs143916832 0.00249
NM_206933.4(USH2A):c.12608A>G (p.Gln4203Arg) rs148556640 0.00247
NM_206933.4(USH2A):c.13404A>G (p.Arg4468=) rs146994147 0.00245
NM_206933.4(USH2A):c.5993G>A (p.Arg1998His) rs143624066 0.00217
NM_206933.4(USH2A):c.14960C>T (p.Ala4987Val) rs111033498 0.00214
NM_016373.4(WWOX):c.1197G>A (p.Ala399=) rs376935572 0.00203
NM_003060.4(SLC22A5):c.1434C>T (p.Pro478=) rs140495935 0.00202
NM_015506.3(MMACHC):c.276+17T>A rs115028762 0.00201
NM_006623.4(PHGDH):c.1158G>T (p.Ala386=) rs144484007 0.00191
NM_001918.5(DBT):c.753C>T (p.Asp251=) rs79292123 0.00179
NM_000191.3(HMGCL):c.497+19G>A rs187735179 0.00172
NM_001918.5(DBT):c.175+37G>A rs76902654 0.00154
NM_006623.4(PHGDH):c.510+6A>G rs371736796 0.00133
NM_206933.4(USH2A):c.2167+17A>G rs181777364 0.00129
NM_206933.4(USH2A):c.6486-18G>A rs370809079 0.00118
NM_206933.4(USH2A):c.2094C>T (p.Thr698=) rs141489104 0.00112
NM_016373.4(WWOX):c.669T>C (p.Asp223=) rs72549408 0.00103
NM_016373.4(WWOX):c.888C>G (p.Ser296=) rs3764341 0.00102
NM_032861.4(SERAC1):c.1137A>G (p.Val379=) rs115846131 0.00100
NM_206933.4(USH2A):c.3158-7A>G rs201558076 0.00097
NM_016373.4(WWOX):c.1141C>T (p.Arg381Cys) rs200461412 0.00083
NM_206933.4(USH2A):c.14754G>A (p.Thr4918=) rs150286388 0.00081
NM_016373.4(WWOX):c.107+18G>A rs146301453 0.00078
NM_201253.3(CRB1):c.3992G>A (p.Arg1331His) rs62636285 0.00078
NM_002225.5(IVD):c.891G>A (p.Ala297=) rs138427412 0.00069
NM_016373.4(WWOX):c.807C>T (p.Asn269=) rs62034095 0.00067
NM_206933.4(USH2A):c.5142T>C (p.Asn1714=) rs143546878 0.00064
NM_016373.4(WWOX):c.468G>T (p.Arg156Ser) rs140817689 0.00063
NM_206933.4(USH2A):c.6924A>G (p.Ala2308=) rs148504065 0.00061
NM_201253.3(CRB1):c.1533C>T (p.Ala511=) rs142224492 0.00051
NM_206933.4(USH2A):c.785-16_785-15del rs150209313 0.00051
NM_001918.5(DBT):c.1210-11T>A rs751951997 0.00049
NM_206933.4(USH2A):c.9258+15T>C rs181894778 0.00047
NM_000048.4(ASL):c.392C>T (p.Thr131Met) rs143793815 0.00042
NM_177550.5(SLC13A5):c.801C>T (p.Phe267=) rs200645836 0.00032
NM_001918.5(DBT):c.1210-8A>T rs535837017 0.00023
NM_206933.4(USH2A):c.5844T>C (p.Arg1948=) rs147930567 0.00021
NM_206933.4(USH2A):c.10062G>C (p.Val3354=) rs200172376 0.00020
NM_206933.4(USH2A):c.10510C>G (p.Pro3504Ala) rs200372118 0.00020
NM_183050.4(BCKDHB):c.987C>T (p.His329=) rs138670449 0.00019
NM_177550.5(SLC13A5):c.1395C>T (p.Asn465=) rs150722760 0.00016
NM_206933.4(USH2A):c.6186A>C (p.Pro2062=) rs200247886 0.00016
NM_016373.4(WWOX):c.517-17A>G rs79423401 0.00014
NM_000018.4(ACADVL):c.478-89T>C rs9646410 0.00013
NM_206933.4(USH2A):c.13134G>T (p.Pro4378=) rs148975669 0.00013
NM_206933.4(USH2A):c.2633G>A (p.Arg878His) rs200124505 0.00011
NM_206933.4(USH2A):c.9975G>A (p.Gly3325=) rs188093326 0.00011
NM_001243279.3(ACSF3):c.823-6T>C rs76096111 0.00010
NM_177550.5(SLC13A5):c.1077G>A (p.Val359=) rs372363091 0.00010
NM_206933.4(USH2A):c.12088C>T (p.Leu4030=) rs141528682 0.00010
NM_000360.4(TH):c.51C>T (p.Ala17=) rs199645400 0.00009
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524 0.00008
NM_206933.4(USH2A):c.12597T>C (p.Ala4199=) rs202172029 0.00006
NM_000017.4(ACADS):c.663G>T (p.Gly221=) rs751023929 0.00004
NM_001918.5(DBT):c.1210-10_1210-9del rs794726986 0.00004
NM_032861.4(SERAC1):c.1152C>G (p.Pro384=) rs201331072 0.00004
NM_032861.4(SERAC1):c.999T>C (p.Ser333=) rs746668292 0.00004
NM_206933.4(USH2A):c.14662A>T (p.Thr4888Ser) rs200993435 0.00004
NM_015506.3(MMACHC):c.495G>A (p.Leu165=) rs761111018 0.00003
NM_177550.5(SLC13A5):c.120C>T (p.Tyr40=) rs529673803 0.00002
NM_001876.4(CPT1A):c.693+35T>A rs61887064 0.00001
NM_003060.4(SLC22A5):c.1125C>T (p.Asn375=) rs202219455 0.00001
NM_206933.4(USH2A):c.1047T>C (p.Asp349=) rs775053681 0.00001
NM_206933.4(USH2A):c.9259-14A>C rs561590242 0.00001
NM_000016.5(ACADM):c.-257G>A rs17848068
NM_000016.6(ACADM):c.118+60del rs796117827
NM_000019.4(ACAT1):c.-22C>G rs3741054
NM_000019.4(ACAT1):c.334+172C>G rs12226047
NM_000019.4(ACAT1):c.826+85_826+86insGTAA rs10682490
NM_000019.4(ACAT1):c.940+84C>T rs12794010
NM_000045.4(ARG1):c.802+76dup rs60712846
NM_000048.4(ASL):c.1063-57G>C rs1167406
NM_000048.4(ASL):c.978+30C>T rs160647
NM_000137.4(FAH):c.314+49G>A rs1370273
NM_000156.6(GAMT):c.391+47A>G rs73515058
NM_000159.4(GCDH):c.128-82T>G rs2242517
NM_000170.3(GLDC):c.2203-63C>G rs2274874
NM_000170.3(GLDC):c.2316-6dup rs3215923
NM_000170.3(GLDC):c.2569+69C>A rs34948145
NM_000191.3(HMGCL):c.-91G>T rs6697805
NM_000254.3(MTR):c.2474-18del rs150727404
NM_000273.3(GPR143):c.767+10C>G rs3788938
NM_000282.4(PCCA):c.231+47_231+50del rs147037340
NM_000341.4(SLC3A1):c.1854G>A (p.Met618Ile) rs698761
NM_000350.3(ABCA4):c.1240-65del rs3215952
NM_000350.3(ABCA4):c.4352+54A>G rs547806
NM_000350.3(ABCA4):c.4774-17_4774-16del rs55860151
NM_000350.3(ABCA4):c.6006-16G>A rs4147863
NM_000360.4(TH):c.1048-110A>C rs4072823
NM_000360.4(TH):c.696-138G>A rs7925784
NM_000440.3(PDE6A):c.934-27_934-26del rs60750624
NM_000539.3(RHO):c.*43C>A rs2071093
NM_000709.4(BCKDHA):c.996-33dup rs3217385
NM_000812.4(GABRB1):c.80+24_80+25del rs72416056
NM_000812.4(GABRB1):c.846A>G (p.Thr282=) rs6289
NM_001001563.5(TIMM50):c.492+17C>G rs4803245
NM_001003841.3(SLC6A19):c.887+84A>G rs6554663
NM_001010898.4(SLC6A17):c.1581G>A (p.Ser527=)
NM_001010898.4(SLC6A17):c.1816-10C>T
NM_001077620.3(PRCD):c.74+36C>G rs77817682
NM_001080442.3(SLC38A8):c.189+11G>T rs1105355
NM_001081.4(CUBN):c.10656C>A (p.Asn3552Lys) rs1801232
NM_001081.4(CUBN):c.1911C>T (p.Leu637=) rs41289311
NM_001127222.2(CACNA1A):c.5625+50CTT[4] rs143245670
NM_001127222.2(CACNA1A):c.6189+74A>C rs16048
NM_001127222.2(CACNA1A):c.6303+94del rs3217380
NM_001127222.2(CACNA1A):c.6526+124G>C rs2304093
NM_001127222.2(CACNA1A):c.6937CAG[11] (p.Gln2324_Gln2325del) rs16054
NM_001142800.2(EYS):c.1459+103C>T rs9453265
NM_001142800.2(EYS):c.2382-26C>G rs9445437
NM_001142800.2(EYS):c.2847-24C>T rs7743515
NM_001142800.2(EYS):c.3443+160T>G rs9345532
NM_001142800.2(EYS):c.359C>T (p.Thr120Met) rs12193967
NM_001142800.2(EYS):c.5835+155T>C rs3904083
NM_001164665.2(KIAA1549):c.1090A>G (p.Thr364Ala) rs59985563
NM_001164665.2(KIAA1549):c.2316C>T (p.Pro772=) rs61746877
NM_001243279.3(ACSF3):c.1502-146A>G rs4302032
NM_001243279.3(ACSF3):c.666+195G>A rs6500530
NM_001243279.3(ACSF3):c.978-83C>G rs9940965
NM_001278064.2(GRM1):c.3213T>G (p.Pro1071=) rs1047006
NM_001297.5(CNGB1):c.1643+39C>G rs247065
NM_001297.5(CNGB1):c.2664C>G (p.Ala888=) rs413562
NM_001297.5(CNGB1):c.299G>A (p.Arg100His) rs13336595
NM_001330260.2(SCN8A):c.2371-32A>C rs303767
NM_001330260.2(SCN8A):c.2545-7dup rs56879517
NM_001330260.2(SCN8A):c.5472C>A (p.Pro1824=) rs60637
NM_001352514.2(HLCS):c.1960+117A>T rs2835455
NM_001352514.2(HLCS):c.2450+136C>T rs9977769
NM_001358263.1(HK1):c.75+23T>C rs4746837
NM_001379270.1(CNGA1):c.108-29T>C rs3845160
NM_001510.4(GRID2):c.735+21G>C rs2271385
NM_001609.4(ACADSB):c.1228+21del rs11307362
NM_001875.5(CPS1):c.-4_-3insTTC rs61509952
NM_001875.5(CPS1):c.1030A>G (p.Thr344Ala) rs1047883
NM_001875.5(CPS1):c.3928-8del rs397703682
NM_001876.4(CPT1A):c.693+34dup rs753779449
NM_001876.4(CPT1A):c.693+36T>G rs61887063
NM_001876.4(CPT1A):c.693+37T>C rs61887062
NM_001918.5(DBT):c.1210-10del rs398123658
NM_001918.5(DBT):c.1210-4del rs201117345
NM_001918.5(DBT):c.1282-14_1282-9del rs760164623
NM_001918.5(DBT):c.251+19dup rs201469612
NM_002454.3(MTRR):c.1875G>A (p.Val625=) rs12347
NM_002454.3(MTRR):c.904-20dup rs11398509
NM_002900.3(RBP3):c.837G>A (p.Thr279=) rs2376635
NM_003060.4(SLC22A5):c.*92del rs142209594
NM_003060.4(SLC22A5):c.652+6= rs4551059
NM_003322.6(TULP1):c.823-17G>C rs12215920
NM_003611.3(OFD1):c.1412-11del rs36052228
NM_003748.4(ALDH4A1):c.1461-109C>T rs6665917
NM_004183.4(BEST1):c.868-99G>T rs195158
NM_006269.2(RP1):c.6098G>A (p.Cys2033Tyr) rs61739567
NM_006343.3(MERTK):c.2080-11C>A rs3811640
NM_006623.3(PHGDH):c.-101G>C rs562038
NM_006623.4(PHGDH):c.792+16C>T rs2101199027
NM_012463.4(ATP6V0A2):c.732-23T>C rs2271660
NM_014003.4(DHX38):c.418C>A (p.Arg140=) rs1050362
NM_014049.5(ACAD9):c.-65GT[4] rs397874507
NM_014049.5(ACAD9):c.346+160G>C rs1680780
NM_014249.4(NR2E3):c.951del (p.Thr318fs) rs11351249
NM_015662.3(IFT172):c.2877+48T>G rs780106
NM_016335.6(PRODH):c.1105-14C>T rs1076466
NM_016335.6(PRODH):c.1515T>C (p.Phe505=) rs455072
NM_016335.6(PRODH):c.849+45del rs5844366
NM_016373.4(WWOX):c.1057-14T>C rs66481974
NM_016373.4(WWOX):c.108-13dup rs146697931
NM_016373.4(WWOX):c.108-14_108-13dup rs146697931
NM_016373.4(WWOX):c.108-6dup rs754221329
NM_016373.4(WWOX):c.1239C>T (p.Ser413=) rs199576434
NM_016373.4(WWOX):c.409+16A>C rs12934985
NM_016373.4(WWOX):c.535G>A (p.Ala179Thr) rs11545029
NM_016373.4(WWOX):c.618G>A (p.Val206=) rs376279847
NM_016373.4(WWOX):c.747C>G (p.Arg249=) rs375934868
NM_016373.4(WWOX):c.876T>C (p.Ala292=) rs74030232
NM_016373.4(WWOX):c.876T>G (p.Ala292=) rs74030232
NM_018706.7(DHTKD1):c.1821C>G (p.Ile607Met) rs2062988
NM_020686.6(ABAT):c.1382-119GATG[6] rs3217123
NM_032861.4(SERAC1):c.1016-31_1016-17del rs374730949
NM_032861.4(SERAC1):c.1396A>T (p.Met466Leu) rs115459512
NM_032861.4(SERAC1):c.266-48dup rs71027384
NM_054012.4(ASS1):c.-5-172T>C rs1760275
NM_054012.4(ASS1):c.495+84A>C rs11243414
NM_138393.4(REEP6):c.517+265GC[6] rs34524945
NM_144639.3(UROC1):c.351+18C>T rs729456
NM_177550.5(SLC13A5):c.-5G>C rs201070767
NM_177972.3(TUB):c.1388-22_1388-19del rs66906803
NM_178857.6(RP1L1):c.3971A>G (p.Glu1324Gly) rs4240659
NM_178857.6(RP1L1):c.6418G>A (p.Glu2140Lys) rs72494282
NM_183050.4(BCKDHB):c.951+48C>T rs3749896
NM_201253.3(CRB1):c.989-53T>G rs2786098
NM_201548.5(CERKL):c.896-18T>C rs13003064
NM_206933.4(USH2A):c.*4A>G rs530405236
NM_206933.4(USH2A):c.11389+14del rs79494833
NM_206933.4(USH2A):c.11549-5del rs34565443
NM_206933.4(USH2A):c.11549-5dup rs34565443
NM_206933.4(USH2A):c.12067-31del rs5780842
NM_206933.4(USH2A):c.1328+37_1328+40del rs145313346
NM_206933.4(USH2A):c.14513G>A (p.Gly4838Glu) rs41315587
NM_206933.4(USH2A):c.15428G>A (p.Arg5143His) rs111033435
NM_206933.4(USH2A):c.1645-8del rs763490382
NM_206933.4(USH2A):c.3317-25dup rs376363548
NM_206933.4(USH2A):c.4252-15dup rs770949401
NM_206933.4(USH2A):c.5573-34del rs35944387
NM_206933.4(USH2A):c.7121-14del rs536181325

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