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
|
|