NC_000011.9:g.111742146del
|
rs10708475
|
1.00000
|
NM_024079.5(ALG8):c.478+35A>T
|
rs518624
|
0.99999
|
NM_019109.5(ALG1):c.741-111T>C
|
rs2110339
|
0.96843
|
NM_138459.5(NUS1):c.-16T>C
|
rs9767451
|
0.94753
|
NM_019109.5(ALG1):c.391-24C>T
|
rs4786590
|
0.94238
|
NM_019109.5(ALG1):c.630-55G>A
|
rs7194217
|
0.94198
|
NM_019109.5(ALG1):c.540-111T>A
|
rs11076869
|
0.94065
|
NM_024079.4(ALG8):c.*20A>G
|
rs1263505
|
0.86211
|
NM_003863.4(DPM2):c.213T>C (p.Tyr71=)
|
rs6781
|
0.80380
|
NM_003863.3(DPM2):c.-152A>G
|
rs6478802
|
0.79362
|
NM_003863.3(DPM2):c.-628A>G
|
rs3758327
|
0.79360
|
NM_003863.4(DPM2):c.227C>G (p.Thr76Ser)
|
rs7997
|
0.79357
|
NM_013339.4(ALG6):c.911C>T (p.Ser304Phe)
|
rs4630153
|
0.75355
|
NM_024592.5(SRD5A3):c.*2589G>A
|
rs819271
|
0.71550
|
NM_012463.4(ATP6V0A2):c.1515T>C (p.Asn505=)
|
rs7135542
|
0.71178
|
NM_004870.4(MPDU1):c.*308G>T
|
rs4227
|
0.67099
|
NM_012463.4(ATP6V0A2):c.426T>C (p.Asn142=)
|
rs1139789
|
0.66312
|
NM_012463.4(ATP6V0A2):c.471T>C (p.Ser157=)
|
rs1399961
|
0.66054
|
NM_012463.4(ATP6V0A2):c.432+14C>T
|
rs11837144
|
0.65907
|
NM_052859.4(RFT1):c.*2887G>A
|
rs2099162
|
0.65392
|
NM_024592.5(SRD5A3):c.*1069G>A
|
rs501679
|
0.65365
|
NM_052859.4(RFT1):c.*450C>T
|
rs2564922
|
0.63746
|
NM_024740.2(ALG9):c.1602+10449A>G
|
rs610437
|
0.63674
|
NM_005216.5(DDOST):c.315C>T (p.Gly105=)
|
rs4704
|
0.63408
|
NM_021645.6(UTP14C):c.254G>T (p.Gly85Val)
|
rs3742289
|
0.63014
|
NM_024079.5(ALG8):c.898+139C>T
|
rs624350
|
0.62975
|
NM_013339.4(ALG6):c.*761T>C
|
rs3009572
|
0.60547
|
NM_013339.4(ALG6):c.494+74A>G
|
rs6588028
|
0.59605
|
NM_021645.6(UTP14C):c.835C>T (p.Leu279=)
|
rs3742291
|
0.56764
|
NM_019109.5(ALG1):c.1188-77G>T
|
rs8056523
|
0.53440
|
NM_052859.4(RFT1):c.1103-24T>C
|
rs2581829
|
0.50896
|
NM_019109.5(ALG1):c.863-70C>T
|
rs1846689
|
0.50015
|
NM_019109.5(ALG1):c.863-84G>A
|
rs1846690
|
0.50001
|
NM_019109.5(ALG1):c.1149C>T (p.Phe383=)
|
rs1047732
|
0.48295
|
NM_052859.4(RFT1):c.*334A>G
|
rs2564921
|
0.47829
|
NM_052859.4(RFT1):c.1623A>G (p.Thr541=)
|
rs11242
|
0.47740
|
NM_052859.4(RFT1):c.*2646T>C
|
rs891368
|
0.47736
|
NM_052859.4(RFT1):c.*2433C>T
|
rs1078968
|
0.47710
|
NM_052859.4(RFT1):c.*2950C>T
|
rs2082093
|
0.47683
|
NM_002435.3(MPI):c.1131A>G (p.Val377=)
|
rs1130741
|
0.45813
|
NM_002633.3(PGM1):c.683-22A>T
|
rs6588052
|
0.45082
|
NM_004341.5(CAD):c.4773A>G (p.Ala1591=)
|
rs1141313
|
0.44315
|
NM_000303.3(PMM2):c.*252C>A
|
rs2075828
|
0.41543
|
NM_021645.6(UTP14C):c.-22A>C
|
rs3825528
|
0.40130
|
NM_152713.5(STT3A):c.996G>A (p.Ser332=)
|
rs2241502
|
0.39463
|
NM_152713.5(STT3A):c.961+25C>T
|
rs6590153
|
0.39437
|
NM_005216.5(DDOST):c.646-16C>T
|
rs607254
|
0.38527
|
NM_001382.4(DPAGT1):c.1177A>G (p.Ile393Val)
|
rs643788
|
0.38193
|
NM_001382.4(DPAGT1):c.*184G>A
|
rs8551
|
0.37865
|
NM_024079.5(ALG8):c.95+23G>T
|
rs10793289
|
0.37596
|
NM_024105.4(ALG12):c.885A>G (p.Ala295=)
|
rs8135963
|
0.36465
|
NM_002435.3(MPI):c.345+15G>A
|
rs11638130
|
0.35866
|
NM_013339.4(ALG6):c.347-107A>G
|
rs1012872
|
0.35371
|
NM_024592.5(SRD5A3):c.*321C>T
|
rs13149568
|
0.35130
|
NM_001382.4(DPAGT1):c.*417T>C
|
rs7759
|
0.29923
|
NM_002633.3(PGM1):c.1600-23G>T
|
rs11208265
|
0.29721
|
NM_024740.2(ALG9):c.865G>A (p.Val289Ile)
|
rs10502151
|
0.28588
|
NM_000303.3(PMM2):c.*997A>G
|
rs1056898
|
0.28325
|
NM_024592.5(SRD5A3):c.*2005T>C
|
rs819269
|
0.27879
|
NM_024592.5(SRD5A3):c.*70C>T
|
rs2538
|
0.27858
|
NM_024592.5(SRD5A3):c.*546G>A
|
rs573960
|
0.27847
|
NM_024592.5(SRD5A3):c.*2368G>A
|
rs819270
|
0.27839
|
NM_024592.5(SRD5A3):c.*879C>T
|
rs576732
|
0.27835
|
NM_152713.5(STT3A):c.1117+12C>T
|
rs2241501
|
0.27654
|
NM_000303.3(PMM2):c.*175G>A
|
rs2072688
|
0.26303
|
NM_001099922.3(ALG13):c.1435+5A>T
|
rs5985638
|
0.26139
|
NM_002633.3(PGM1):c.1464+14G>T
|
rs2269238
|
0.25474
|
NM_024105.4(ALG12):c.*51A>G
|
rs1321
|
0.25423
|
NM_000303.3(PMM2):c.*136A>C
|
rs2075827
|
0.24978
|
NM_024105.4(ALG12):c.664+9G>C
|
rs9616368
|
0.23841
|
NM_024105.4(ALG12):c.664+12A>G
|
rs9616204
|
0.23839
|
NM_005787.6(ALG3):c.*50T>G
|
rs706584
|
0.23812
|
NM_002633.3(PGM1):c.661C>T (p.Arg221Cys)
|
rs1126728
|
0.22903
|
NM_024105.4(ALG12):c.-141T>C
|
rs9616378
|
0.22442
|
NM_052859.4(RFT1):c.*490T>A
|
rs62255926
|
0.21145
|
NM_002633.3(PGM1):c.1258T>C (p.Tyr420His)
|
rs11208257
|
0.21027
|
NM_013339.4(ALG6):c.-136C>G
|
rs34542411
|
0.20075
|
NM_005216.5(DDOST):c.456+18C>T
|
rs3738140
|
0.19425
|
NM_024079.5(ALG8):c.665A>G (p.Asn222Ser)
|
rs665278
|
0.17617
|
NM_013339.4(ALG6):c.430-133T>C
|
rs12755065
|
0.17545
|
NM_002633.3(PGM1):c.*22C>T
|
rs8294
|
0.17190
|
NM_000303.3(PMM2):c.66+209C>T
|
rs9939787
|
0.17150
|
NM_002633.3(PGM1):c.262A>G (p.Ile88Val)
|
rs855314
|
0.16859
|
NM_052859.4(RFT1):c.*2840T>A
|
rs9875573
|
0.16647
|
NM_013339.4(ALG6):c.1058+111T>G
|
rs4550089
|
0.16438
|
NM_052859.4(RFT1):c.*622C>G
|
rs7645611
|
0.15942
|
NM_000303.3(PMM2):c.639+62C>T
|
rs3743807
|
0.15368
|
NM_004870.4(MPDU1):c.685G>A (p.Ala229Thr)
|
rs10852891
|
0.14975
|
NM_000303.3(PMM2):c.*96G>C
|
rs11554040
|
0.14272
|
NM_019109.5(ALG1):c.1287T>A (p.Asp429Glu)
|
rs9745522
|
0.11789
|
NM_003859.3(DPM1):c.679-7A>T
|
rs60224379
|
0.11090
|
NM_001099922.3(ALG13):c.1293A>G (p.Pro431=)
|
rs7063657
|
0.10892
|
NM_021645.6(UTP14C):c.301A>G (p.Thr101Ala)
|
rs3742290
|
0.10387
|
NM_024105.4(ALG12):c.1177A>G (p.Ile393Val)
|
rs3922872
|
0.09076
|
NM_024105.4(ALG12):c.163-19C>A
|
rs11705497
|
0.07946
|
NM_002435.3(MPI):c.1053+31G>A
|
rs12593975
|
0.07316
|
NM_019109.5(ALG1):c.723C>T (p.His241=)
|
rs7195893
|
0.07135
|
NM_019109.5(ALG1):c.800G>A (p.Ser267Asn)
|
rs17849848
|
0.06910
|
NM_002435.3(MPI):c.*58C>T
|
rs2230479
|
0.06346
|
NM_052859.4(RFT1):c.267-20A>T
|
rs73840213
|
0.05900
|
NM_033087.4(ALG2):c.31T>C (p.Ser11Pro)
|
rs11545137
|
0.05446
|
NM_033087.4(ALG2):c.1100T>C (p.Val367Ala)
|
rs35626507
|
0.05444
|
NM_178862.3(STT3B):c.778-17C>A
|
rs11705765
|
0.05239
|
NM_002633.3(PGM1):c.1501G>A (p.Val501Ile)
|
rs6676290
|
0.04986
|
NM_052859.4(RFT1):c.553G>A (p.Ala185Thr)
|
rs35221142
|
0.04860
|
NM_019109.5(ALG1):c.840G>C (p.Leu280=)
|
rs12921879
|
0.04852
|
NM_024079.5(ALG8):c.862T>C (p.Leu288=)
|
rs61995924
|
0.04685
|
NM_000303.3(PMM2):c.*1259C>G
|
rs78698557
|
0.04619
|
NM_000303.3(PMM2):c.*560A>G
|
rs2447928
|
0.04419
|
NM_024105.4(ALG12):c.99G>A (p.Val33=)
|
rs76707654
|
0.04368
|
NM_013339.4(ALG6):c.981T>C (p.Phe327=)
|
rs75451833
|
0.04164
|
NM_005787.6(ALG3):c.591T>C (p.Gly197=)
|
rs2233464
|
0.04116
|
NM_002633.3(PGM1):c.1145-7C>G
|
rs72922609
|
0.04055
|
NM_013339.4(ALG6):c.*1322A>G
|
rs75309742
|
0.04045
|
NM_052859.4(RFT1):c.*146C>T
|
rs72965388
|
0.03697
|
NM_052859.4(RFT1):c.*1803T>A
|
rs114029473
|
0.03680
|
NM_052859.4(RFT1):c.*1804C>T
|
rs114515847
|
0.03678
|
NM_024592.5(SRD5A3):c.*2063G>A
|
rs73236134
|
0.03578
|
NM_024592.5(SRD5A3):c.*1706G>A
|
rs147485112
|
0.03469
|
NM_004870.4(MPDU1):c.673G>A (p.Gly225Ser)
|
rs16956808
|
0.03297
|
NM_001004127.3(ALG11):c.933G>A (p.Pro311=)
|
rs61958802
|
0.03255
|
NM_024105.4(ALG12):c.*240G>A
|
rs76848348
|
0.03225
|
NM_024740.2(ALG9):c.*1848G>A
|
rs45620134
|
0.03051
|
NM_013339.4(ALG6):c.391T>C (p.Tyr131His)
|
rs35383149
|
0.02935
|
NM_002633.3(PGM1):c.1280+7C>T
|
rs72922610
|
0.02818
|
NM_024105.4(ALG12):c.1029G>A (p.Ala343=)
|
rs62233155
|
0.02811
|
NM_052859.4(RFT1):c.*1975C>T
|
rs75112182
|
0.02786
|
NM_002633.3(PGM1):c.399T>C (p.Ile133=)
|
rs1126727
|
0.02624
|
NM_024740.2(ALG9):c.406-7C>T
|
rs45574638
|
0.02566
|
NM_012463.4(ATP6V0A2):c.2438C>T (p.Ala813Val)
|
rs17883456
|
0.02527
|
NM_013339.4(ALG6):c.*844T>C
|
rs2884922
|
0.02393
|
NM_012463.4(ATP6V0A2):c.1121A>G (p.Lys374Arg)
|
rs79134187
|
0.02323
|
NM_013339.4(ALG6):c.726C>T (p.Phe242=)
|
rs59848367
|
0.02294
|
NM_005216.4(DDOST):c.22G>C (p.Gly8Arg)
|
rs537816
|
0.02282
|
NM_005216.5(DDOST):c.831C>T (p.Ala277=)
|
rs6692016
|
0.02273
|
NM_024105.4(ALG12):c.*280G>A
|
rs116765369
|
0.02266
|
NM_024079.5(ALG8):c.1316T>C (p.Ile439Thr)
|
rs17825668
|
0.02180
|
NM_024079.5(ALG8):c.1039-5T>C
|
rs112211908
|
0.02114
|
NM_000303.3(PMM2):c.590A>C (p.Glu197Ala)
|
rs34258285
|
0.02088
|
NM_002435.3(MPI):c.684C>T (p.Asn228=)
|
rs139190144
|
0.01985
|
NM_014908.4(DOLK):c.-49A>G
|
rs116439010
|
0.01852
|
NM_033087.4(ALG2):c.129C>G (p.Arg43=)
|
rs35055733
|
0.01831
|
NM_012463.4(ATP6V0A2):c.1016G>A (p.Arg339His)
|
rs74922060
|
0.01800
|
NM_002435.3(MPI):c.*358G>A
|
rs117375132
|
0.01763
|
NM_052859.4(RFT1):c.*1009G>A
|
rs73840205
|
0.01686
|
NM_005216.5(DDOST):c.66G>A (p.Ala22=)
|
rs17837938
|
0.01665
|
NM_002633.3(PGM1):c.*130C>T
|
rs2749098
|
0.01573
|
NM_001004127.3(ALG11):c.323A>G (p.Asn108Ser)
|
rs17480245
|
0.01560
|
NM_002633.3(PGM1):c.1500C>T (p.Ile500=)
|
rs61737416
|
0.01523
|
NM_002633.3(PGM1):c.1599+9C>T
|
rs115864084
|
0.01520
|
NM_033087.4(ALG2):c.30C>G (p.Asp10Glu)
|
rs7023652
|
0.01515
|
NM_024592.5(SRD5A3):c.*1859C>T
|
rs1047343
|
0.01513
|
NM_024592.5(SRD5A3):c.*1601G>A
|
rs111238066
|
0.01486
|
NM_013339.4(ALG6):c.678G>T (p.Lys226Asn)
|
rs35604168
|
0.01480
|
NM_024079.5(ALG8):c.803G>A (p.Arg268Gln)
|
rs61995925
|
0.01476
|
NM_024592.5(SRD5A3):c.925C>G (p.His309Asp)
|
rs61733673
|
0.01465
|
NM_024592.5(SRD5A3):c.-40G>A
|
rs111568566
|
0.01461
|
NM_052859.4(RFT1):c.64-14C>T
|
rs78419624
|
0.01456
|
NM_001099922.3(ALG13):c.1266T>C (p.Gly422=)
|
rs5985637
|
0.01375
|
NM_000303.3(PMM2):c.*994A>T
|
rs113234190
|
0.01373
|
NM_019109.5(ALG1):c.554T>G (p.Phe185Cys)
|
rs112668461
|
0.01358
|
NM_024105.4(ALG12):c.469+13C>T
|
rs78916708
|
0.01349
|
NM_012463.4(ATP6V0A2):c.1039-14T>C
|
rs115569365
|
0.01308
|
NM_178862.3(STT3B):c.777+7T>G
|
rs76400963
|
0.01303
|
NM_013339.4(ALG6):c.1357C>G (p.Leu453Val)
|
rs41285372
|
0.01295
|
NM_024740.2(ALG9):c.*1671T>C
|
rs116003998
|
0.01295
|
NM_178862.3(STT3B):c.2406C>A (p.Thr802=)
|
rs17027884
|
0.01283
|
NM_000303.3(PMM2):c.324G>A (p.Ala108=)
|
rs62031146
|
0.01239
|
NM_024740.2(ALG9):c.764C>T (p.Ser255Leu)
|
rs17113312
|
0.01232
|
NM_002435.3(MPI):c.345+16C>T
|
rs143242949
|
0.01224
|
NM_012463.4(ATP6V0A2):c.2549A>G (p.Asn850Ser)
|
rs75279884
|
0.01166
|
NM_012463.4(ATP6V0A2):c.1606-12G>A
|
rs112415338
|
0.01148
|
NM_005787.6(ALG3):c.319A>G (p.Ile107Val)
|
rs2233463
|
0.01115
|
NM_178862.3(STT3B):c.477A>G (p.Thr159=)
|
rs139496568
|
0.01086
|
NM_002633.3(PGM1):c.247-5664G>A
|
rs77043134
|
0.01056
|
NM_005216.5(DDOST):c.265+9T>A
|
rs79243170
|
0.01029
|
NM_003863.4(DPM2):c.183G>A (p.Leu61=)
|
rs11552794
|
0.01027
|
NM_024740.2(ALG9):c.132-17T>G
|
rs782169051
|
0.00984
|
NM_000303.3(PMM2):c.*166C>G
|
rs115474235
|
0.00982
|
NM_024740.2(ALG9):c.132-13T>G
|
rs72994380
|
0.00979
|
NM_001099922.3(ALG13):c.183C>T (p.Tyr61=)
|
rs146925326
|
0.00950
|
NM_012463.4(ATP6V0A2):c.777G>A (p.Arg259=)
|
rs73420336
|
0.00931
|
NM_003863.4(DPM2):c.177C>T (p.Leu59=)
|
rs35334863
|
0.00922
|
NM_033087.4(ALG2):c.17G>C (p.Gly6Ala)
|
rs180849348
|
0.00918
|
NM_024105.4(ALG12):c.939C>T (p.Ile313=)
|
rs114335781
|
0.00874
|
NM_001382.4(DPAGT1):c.918-18G>A
|
rs145206990
|
0.00859
|
NM_002435.3(MPI):c.762C>T (p.Ile254=)
|
rs12440159
|
0.00855
|
NM_024105.4(ALG12):c.768+17G>A
|
rs145358718
|
0.00827
|
NM_013339.4(ALG6):c.1323T>C (p.Tyr441=)
|
rs116660078
|
0.00791
|
NM_178862.3(STT3B):c.1764C>T (p.Tyr588=)
|
rs34176522
|
0.00770
|
NM_001099922.3(ALG13):c.2401+12C>A
|
rs150294098
|
0.00767
|
NM_024079.5(ALG8):c.175-18C>A
|
rs73501260
|
0.00743
|
NM_005216.5(DDOST):c.-12A>C
|
rs61739382
|
0.00736
|
NM_012463.4(ATP6V0A2):c.2054G>A (p.Arg685Gln)
|
rs7969410
|
0.00727
|
NM_052859.4(RFT1):c.*1533G>A
|
rs139197209
|
0.00724
|
NM_052859.4(RFT1):c.*2655T>C
|
rs148022607
|
0.00723
|
NM_003859.3(DPM1):c.84G>C (p.Ser28=)
|
rs16995639
|
0.00708
|
NM_013339.4(ALG6):c.751A>G (p.Thr251Ala)
|
rs61755863
|
0.00705
|
NM_012463.4(ATP6V0A2):c.1872G>A (p.Leu624=)
|
rs73420342
|
0.00672
|
NM_024740.2(ALG9):c.1473-14T>C
|
rs187507214
|
0.00657
|
NM_012463.4(ATP6V0A2):c.117+14G>A
|
rs144930749
|
0.00652
|
NM_001099922.3(ALG13):c.1152G>A (p.Ala384=)
|
rs145353928
|
0.00643
|
NM_000303.3(PMM2):c.640-46G>A
|
rs113866602
|
0.00632
|
NM_005216.5(DDOST):c.663G>A (p.Gly221=)
|
rs41307775
|
0.00625
|
NM_024079.5(ALG8):c.896T>C (p.Ile299Thr)
|
rs61995922
|
0.00615
|
NM_002435.3(MPI):c.982C>T (p.Arg328Trp)
|
rs117089191
|
0.00577
|
NM_024105.4(ALG12):c.645G>A (p.Pro215=)
|
rs12167668
|
0.00577
|
NM_014908.4(DOLK):c.1dup (p.Met1fs)
|
rs531969689
|
0.00573
|
NM_024740.2(ALG9):c.1383C>T (p.Thr461=)
|
rs45516107
|
0.00545
|
NM_024105.4(ALG12):c.698G>A (p.Arg233Gln)
|
rs114264124
|
0.00516
|
NM_024105.4(ALG12):c.631C>T (p.Arg211Cys)
|
rs144665682
|
0.00490
|
NM_019109.5(ALG1):c.1080G>A (p.Ala360=)
|
rs143939207
|
0.00467
|
NM_002435.3(MPI):c.144+16T>A
|
rs138182675
|
0.00434
|
NM_002435.3(MPI):c.144+18T>A
|
rs186045258
|
0.00434
|
NM_002435.3(MPI):c.144+20T>A
|
rs190812626
|
0.00434
|
NM_004870.4(MPDU1):c.618+14C>T
|
rs11078699
|
0.00407
|
NM_024105.4(ALG12):c.1163-19G>A
|
rs200745798
|
0.00396
|
NM_001099922.3(ALG13):c.3039A>G (p.Val1013=)
|
rs183032531
|
0.00394
|
NM_001099922.3(ALG13):c.2672C>T (p.Ser891Phe)
|
rs200066623
|
0.00390
|
NM_024105.4(ALG12):c.48G>C (p.Leu16=)
|
rs143508665
|
0.00377
|
NM_002633.3(PGM1):c.573G>A (p.Ser191=)
|
rs112502842
|
0.00373
|
NM_001004127.3(ALG11):c.173A>T (p.Asn58Ile)
|
rs150818619
|
0.00365
|
NM_001004127.3(ALG11):c.1032T>G (p.Gly344=)
|
rs143967675
|
0.00348
|
NM_001099922.3(ALG13):c.2248-4A>G
|
rs370438099
|
0.00325
|
NM_005216.5(DDOST):c.1176C>T (p.Ser392=)
|
rs149576051
|
0.00320
|
NM_019109.5(ALG1):c.334A>C (p.Met112Leu)
|
rs113219939
|
0.00315
|
NM_019109.5(ALG1):c.539+16G>A
|
rs189715949
|
0.00311
|
NM_014908.4(DOLK):c.186G>A (p.Arg62=)
|
rs148171062
|
0.00299
|
NM_001099922.3(ALG13):c.2799T>A (p.Pro933=)
|
rs13440710
|
0.00296
|
NM_178862.3(STT3B):c.1172+15A>G
|
rs60153256
|
0.00288
|
NM_024105.4(ALG12):c.1155C>T (p.Pro385=)
|
rs113652023
|
0.00282
|
NM_033087.4(ALG2):c.349-17A>G
|
rs193069827
|
0.00275
|
NM_033087.4(ALG2):c.84C>G (p.Gly28=)
|
rs61744789
|
0.00268
|
NM_003863.4(DPM2):c.3+12A>G
|
rs2274425
|
0.00262
|
NM_012463.4(ATP6V0A2):c.1258G>T (p.Val420Leu)
|
rs138716143
|
0.00258
|
NM_001099922.3(ALG13):c.2898T>C (p.Tyr966=)
|
rs368002375
|
0.00247
|
NM_178862.3(STT3B):c.372T>C (p.Asn124=)
|
rs150886803
|
0.00245
|
NM_002435.3(MPI):c.303C>T (p.Leu101=)
|
rs139228075
|
0.00240
|
NM_024740.2(ALG9):c.1794C>T (p.Tyr598=)
|
rs77191760
|
0.00238
|
NM_002435.3(MPI):c.414G>A (p.Met138Ile)
|
rs150217523
|
0.00227
|
NM_019109.5(ALG1):c.1092C>G (p.Val364=)
|
rs113602091
|
0.00221
|
NM_019109.5(ALG1):c.1222C>T (p.Leu408=)
|
rs149319732
|
0.00217
|
NM_024105.4(ALG12):c.501C>T (p.His167=)
|
rs149845730
|
0.00212
|
NM_014908.4(DOLK):c.771C>T (p.Ile257=)
|
rs147416890
|
0.00205
|
NM_005216.5(DDOST):c.776C>T (p.Ala259Val)
|
rs138061134
|
0.00201
|
NM_002633.3(PGM1):c.18A>G (p.Thr6=)
|
rs111246749
|
0.00193
|
NM_005216.5(DDOST):c.353-11G>C
|
rs202107268
|
0.00182
|
NM_004870.4(MPDU1):c.393C>T (p.Val131=)
|
rs79286384
|
0.00178
|
NM_005787.6(ALG3):c.1271C>T (p.Pro424Leu)
|
rs79144888
|
0.00178
|
NM_024105.4(ALG12):c.359G>A (p.Arg120Gln)
|
rs117687848
|
0.00169
|
NM_013339.4(ALG6):c.1398A>T (p.Leu466=)
|
rs140158304
|
0.00167
|
NM_001099922.3(ALG13):c.2617G>C (p.Ala873Pro)
|
rs142841538
|
0.00166
|
NM_001004127.3(ALG11):c.44+20G>T
|
rs200503510
|
0.00153
|
NM_024740.2(ALG9):c.790-11C>T
|
rs188241987
|
0.00152
|
NM_012463.4(ATP6V0A2):c.2238C>T (p.Cys746=)
|
rs138886791
|
0.00150
|
NM_005216.5(DDOST):c.1209C>T (p.Arg403=)
|
rs148883998
|
0.00148
|
NM_003859.3(DPM1):c.296-12T>C
|
rs200030885
|
0.00143
|
NM_178862.3(STT3B):c.2073+14T>C
|
rs59520046
|
0.00143
|
NM_003859.3(DPM1):c.398+13T>C
|
rs201703497
|
0.00140
|
NM_024079.5(ALG8):c.675T>C (p.Asp225=)
|
rs139106381
|
0.00138
|
NM_002633.3(PGM1):c.1400C>A (p.Thr467Asn)
|
rs150266274
|
0.00137
|
NM_002435.3(MPI):c.10C>T (p.Pro4Ser)
|
rs143982014
|
0.00133
|
NM_012463.4(ATP6V0A2):c.1039-12T>C
|
rs190537134
|
0.00128
|
NM_001382.4(DPAGT1):c.918-5C>T
|
rs191573465
|
0.00126
|
NM_138459.5(NUS1):c.197G>C (p.Arg66Pro)
|
rs539668656
|
0.00122
|
NM_033087.4(ALG2):c.288C>T (p.Phe96=)
|
rs542863968
|
0.00121
|
NM_001382.4(DPAGT1):c.573C>T (p.Asn191=)
|
rs62641715
|
0.00117
|
NM_001382.4(DPAGT1):c.1161+16G>A
|
rs201301096
|
0.00116
|
NM_178862.3(STT3B):c.2322A>G (p.Ala774=)
|
rs140420950
|
0.00109
|
NM_001099922.3(ALG13):c.150C>T (p.Pro50=)
|
rs147897682
|
0.00102
|
NM_005216.5(DDOST):c.893G>A (p.Arg298Gln)
|
rs117925699
|
0.00098
|
NM_019109.5(ALG1):c.8C>A (p.Ala3Asp)
|
rs559805054
|
0.00096
|
NM_002435.3(MPI):c.1049C>T (p.Thr350Met)
|
rs116933453
|
0.00095
|
NM_019109.5(ALG1):c.21C>T (p.Val7=)
|
rs149388535
|
0.00093
|
NM_001099922.3(ALG13):c.3414A>C (p.Ter1138Tyr)
|
rs201820102
|
0.00089
|
NM_012463.4(ATP6V0A2):c.2229T>C (p.Cys743=)
|
rs150508296
|
0.00088
|
NM_001099922.3(ALG13):c.1591T>C (p.Leu531=)
|
rs112837367
|
0.00085
|
NM_012463.4(ATP6V0A2):c.1189+12G>T
|
rs377235629
|
0.00085
|
NM_024105.4(ALG12):c.768+16C>T
|
rs558809803
|
0.00083
|
NM_005216.5(DDOST):c.36C>G (p.Leu12=)
|
rs143329944
|
0.00081
|
NM_024592.5(SRD5A3):c.364+19T>C
|
rs201315974
|
0.00081
|
NM_012463.4(ATP6V0A2):c.1590C>T (p.Pro530=)
|
rs80355657
|
0.00078
|
NM_012463.4(ATP6V0A2):c.1521C>T (p.Ser507=)
|
rs142454880
|
0.00076
|
NM_000303.3(PMM2):c.639+19G>C
|
rs145473288
|
0.00074
|
NM_000303.3(PMM2):c.640-13C>T
|
rs372181885
|
0.00073
|
NM_014908.4(DOLK):c.873C>T (p.Leu291=)
|
rs148646968
|
0.00073
|
NM_001382.4(DPAGT1):c.643+11T>A
|
rs185858377
|
0.00067
|
NM_001099922.3(ALG13):c.3093A>G (p.Gln1031=)
|
rs372260338
|
0.00065
|
NM_001099922.3(ALG13):c.1843C>T (p.Leu615=)
|
rs374231091
|
0.00060
|
NM_019109.5(ALG1):c.902-20G>A
|
rs74249172
|
0.00059
|
NM_001099922.3(ALG13):c.3358A>G (p.Ile1120Val)
|
rs369167525
|
0.00058
|
NM_001099922.3(ALG13):c.1327-19A>G
|
rs375412069
|
0.00048
|
NM_001099922.3(ALG13):c.3399A>G (p.Val1133=)
|
rs372982045
|
0.00047
|
NM_001099922.3(ALG13):c.1006-14G>A
|
rs760527824
|
0.00045
|
NM_013339.4(ALG6):c.1452C>T (p.Phe484=)
|
rs150298974
|
0.00044
|
NM_014908.4(DOLK):c.1450A>G (p.Ile484Val)
|
rs147630977
|
0.00044
|
NM_019109.4(ALG1):c.60G>A (p.Leu20=)
|
rs78694906
|
0.00043
|
NM_001382.4(DPAGT1):c.729-4A>C
|
rs199873583
|
0.00041
|
NM_024105.4(ALG12):c.1362C>T (p.Val454=)
|
rs12163163
|
0.00041
|
NM_178862.3(STT3B):c.2401-17G>T
|
rs370120522
|
0.00041
|
NM_001099922.3(ALG13):c.638G>A (p.Ser213Asn)
|
rs374748006
|
0.00040
|
NM_001099922.3(ALG13):c.1971G>A (p.Met657Ile)
|
rs1290639452
|
0.00039
|
NM_001099922.3(ALG13):c.2248-15G>C
|
rs139711892
|
0.00039
|
NM_014908.4(DOLK):c.1481A>G (p.Asp494Gly)
|
rs145292760
|
0.00039
|
NM_002633.3(PGM1):c.987C>T (p.Arg329=)
|
rs79097301
|
0.00038
|
NM_024105.4(ALG12):c.465T>C (p.Pro155=)
|
rs201564211
|
0.00037
|
NM_001099922.3(ALG13):c.1729+14A>G
|
rs763484848
|
0.00036
|
NM_024740.2(ALG9):c.1332C>T (p.His444=)
|
rs139516254
|
0.00036
|
NM_052859.4(RFT1):c.436C>T (p.His146Tyr)
|
rs201794647
|
0.00036
|
NM_000303.3(PMM2):c.110A>T (p.Gln37Leu)
|
rs2304472
|
0.00035
|
NM_001099922.3(ALG13):c.104A>G (p.Asn35Ser)
|
rs149808406
|
0.00035
|
NM_012463.4(ATP6V0A2):c.1486G>A (p.Ala496Thr)
|
rs143142641
|
0.00035
|
NM_012463.4(ATP6V0A2):c.1327-16G>A
|
rs149092701
|
0.00033
|
NM_033087.4(ALG2):c.167C>T (p.Pro56Leu)
|
rs201959100
|
0.00033
|
NM_001004127.3(ALG11):c.1107T>C (p.Tyr369=)
|
rs146432805
|
0.00031
|
NM_002435.3(MPI):c.214A>C (p.Ser72Arg)
|
rs146699267
|
0.00031
|
NM_005216.5(DDOST):c.1293C>T (p.His431=)
|
rs117634838
|
0.00031
|
NM_024740.2(ALG9):c.1659C>T (p.Pro553=)
|
rs2276263
|
0.00031
|
NM_138459.5(NUS1):c.537T>A (p.Asp179Glu)
|
rs28362519
|
0.00030
|
NM_153741.2(DPM3):c.112C>T (p.Leu38=)
|
rs368529799
|
0.00028
|
NM_000303.3(PMM2):c.366C>T (p.Phe122=)
|
rs145714866
|
0.00027
|
NM_178862.3(STT3B):c.136G>A (p.Gly46Ser)
|
rs527396203
|
0.00026
|
NM_024740.2(ALG9):c.1750C>T (p.Arg584Trp)
|
rs199995104
|
0.00025
|
NM_001099922.3(ALG13):c.3008A>G (p.Tyr1003Cys)
|
rs201055779
|
0.00024
|
NM_001099922.3(ALG13):c.886-16C>A
|
rs780688383
|
0.00023
|
NM_001099922.3(ALG13):c.2933-14A>G
|
rs755886617
|
0.00021
|
NM_005216.5(DDOST):c.1170+16dup
|
rs566726706
|
0.00021
|
NM_012463.4(ATP6V0A2):c.1128C>T (p.Thr376=)
|
rs138172178
|
0.00021
|
NM_012463.4(ATP6V0A2):c.2014T>C (p.Leu672=)
|
rs367950442
|
0.00021
|
NM_012463.4(ATP6V0A2):c.447T>C (p.Tyr149=)
|
rs140835376
|
0.00021
|
NM_001099922.3(ALG13):c.2269A>G (p.Met757Val)
|
rs1451116623
|
0.00020
|
NM_052859.4(RFT1):c.632C>T (p.Thr211Ile)
|
rs148289202
|
0.00020
|
NM_000303.3(PMM2):c.90C>G (p.Asp30Glu)
|
rs201556985
|
0.00019
|
NM_014908.4(DOLK):c.1437T>C (p.Ser479=)
|
rs574290806
|
0.00019
|
NM_024079.5(ALG8):c.154A>G (p.Ile52Val)
|
rs138293432
|
0.00019
|
NM_178862.3(STT3B):c.141C>T (p.Gly47=)
|
rs367626371
|
0.00019
|
NM_005216.5(DDOST):c.999C>T (p.Gly333=)
|
rs190780604
|
0.00017
|
NM_014908.4(DOLK):c.579G>A (p.Glu193=)
|
rs28365522
|
0.00017
|
NM_002435.3(MPI):c.1125G>A (p.Gly375=)
|
rs552854858
|
0.00016
|
NM_153741.2(DPM3):c.249C>A (p.Ala83=)
|
rs193215070
|
0.00016
|
NM_001099922.3(ALG13):c.2654T>C (p.Ile885Thr)
|
rs781459134
|
0.00015
|
NM_024592.5(SRD5A3):c.108G>T (p.Pro36=)
|
rs200253126
|
0.00015
|
NM_019109.5(ALG1):c.629+20C>T
|
rs371416008
|
0.00014
|
NM_013339.4(ALG6):c.903-13A>G
|
rs190744579
|
0.00013
|
NM_001099922.3(ALG13):c.2606C>T (p.Ala869Val)
|
rs138712375
|
0.00012
|
NM_001099922.3(ALG13):c.2685C>T (p.His895=)
|
rs374572450
|
0.00012
|
NM_024740.2(ALG9):c.62C>T (p.Ala21Val)
|
rs1298391733
|
0.00012
|
NM_012463.4(ATP6V0A2):c.2340C>T (p.Arg780=)
|
rs201694504
|
0.00011
|
NM_024105.4(ALG12):c.189C>T (p.Val63=)
|
rs190345740
|
0.00011
|
NM_138459.5(NUS1):c.732C>T (p.Phe244=)
|
rs142549647
|
0.00011
|
NM_000303.3(PMM2):c.441C>T (p.Leu147=)
|
rs146990448
|
0.00010
|
NM_001099922.3(ALG13):c.2309G>A (p.Gly770Glu)
|
rs751478782
|
0.00010
|
NM_001099922.3(ALG13):c.1089T>C (p.Ala363=)
|
rs760208274
|
0.00009
|
NM_052859.4(RFT1):c.924G>A (p.Leu308=)
|
rs140603849
|
0.00009
|
NM_001099922.3(ALG13):c.2933-15G>T
|
rs372767806
|
0.00008
|
NM_001099922.3(ALG13):c.384-5C>T
|
rs763318921
|
0.00008
|
NM_001099922.3(ALG13):c.975T>G (p.Thr325=)
|
rs767735916
|
0.00008
|
NM_005787.6(ALG3):c.477C>T (p.Cys159=)
|
rs201087932
|
0.00008
|
NM_012463.4(ATP6V0A2):c.1698A>G (p.Gly566=)
|
rs2271659
|
0.00008
|
NM_024740.2(ALG9):c.132-18T>G
|
rs528601164
|
0.00008
|
NM_001099922.3(ALG13):c.288C>T (p.Leu96=)
|
rs369867857
|
0.00007
|
NM_019109.5(ALG1):c.1179C>G (p.Asn393Lys)
|
rs537333921
|
0.00007
|
NM_001099922.3(ALG13):c.2369-19T>C
|
rs376719251
|
0.00006
|
NM_001099922.3(ALG13):c.42C>A (p.Asp14Glu)
|
rs200293248
|
0.00006
|
NM_012463.4(ATP6V0A2):c.603C>T (p.Ile201=)
|
rs181112338
|
0.00006
|
NM_019109.5(ALG1):c.19G>A (p.Val7Ile)
|
rs199891552
|
0.00006
|
NM_024105.4(ALG12):c.469+14G>A
|
rs76905919
|
0.00006
|
NM_024105.4(ALG12):c.639C>T (p.Ala213=)
|
rs140835842
|
0.00006
|
NM_033087.4(ALG2):c.390G>A (p.Arg130=)
|
rs375986920
|
0.00006
|
NM_001099922.3(ALG13):c.108A>G (p.Arg36=)
|
rs769838471
|
0.00005
|
NM_001099922.3(ALG13):c.2385A>G (p.Glu795=)
|
rs759719376
|
0.00005
|
NM_001099922.3(ALG13):c.857A>G (p.Lys286Arg)
|
rs765500818
|
0.00005
|
NM_001099922.3(ALG13):c.978T>C (p.Tyr326=)
|
rs375739139
|
0.00005
|
NM_004870.4(MPDU1):c.411C>T (p.Tyr137=)
|
rs142551371
|
0.00005
|
NM_001099922.3(ALG13):c.1435+20A>G
|
rs368555602
|
0.00004
|
NM_001099922.3(ALG13):c.2013G>A (p.Pro671=)
|
rs775697727
|
0.00004
|
NM_001099922.3(ALG13):c.2266A>G (p.Thr756Ala)
|
rs748648454
|
0.00004
|
NM_001099922.3(ALG13):c.2616A>G (p.Gln872=)
|
rs764400701
|
0.00004
|
NM_001099922.3(ALG13):c.3132G>A (p.Ala1044=)
|
rs376626719
|
0.00004
|
NM_005216.5(DDOST):c.154+19G>C
|
rs200373074
|
0.00004
|
NM_024105.4(ALG12):c.993-19G>A
|
rs185216992
|
0.00004
|
NM_000303.3(PMM2):c.712C>T (p.Arg238Cys)
|
rs142459706
|
0.00003
|
NM_001099922.3(ALG13):c.2037A>G (p.Pro679=)
|
rs764270660
|
0.00003
|
NM_005787.6(ALG3):c.1272G>A (p.Pro424=)
|
rs372724502
|
0.00003
|
NM_005787.6(ALG3):c.51A>G (p.Ala17=)
|
rs763727038
|
0.00003
|
NM_019109.5(ALG1):c.821G>A (p.Arg274His)
|
rs529013891
|
0.00003
|
NM_024079.5(ALG8):c.588A>C (p.Leu196=)
|
rs562915665
|
0.00003
|
NM_001099922.3(ALG13):c.2012C>T (p.Pro671Leu)
|
rs770150113
|
0.00002
|
NM_001099922.3(ALG13):c.2278G>T (p.Ala760Ser)
|
rs773286994
|
0.00002
|
NM_001099922.3(ALG13):c.2369G>A (p.Gly790Glu)
|
rs745411126
|
0.00002
|
NM_001099922.3(ALG13):c.3058A>G (p.Thr1020Ala)
|
rs3027818
|
0.00002
|
NM_001099922.3(ALG13):c.360T>C (p.Gly120=)
|
rs747837898
|
0.00002
|
NM_001099922.3(ALG13):c.378C>T (p.Thr126=)
|
rs777042118
|
0.00002
|
NM_001099922.3(ALG13):c.419C>T (p.Ala140Val)
|
rs373025706
|
0.00002
|
NM_001099922.3(ALG13):c.995A>G (p.Tyr332Cys)
|
rs370098098
|
0.00002
|
NM_002633.3(PGM1):c.1027C>T (p.Arg343Trp)
|
rs577589562
|
0.00002
|
NM_004870.4(MPDU1):c.652G>T (p.Val218Leu)
|
rs142953652
|
0.00002
|
NM_013339.4(ALG6):c.168-17C>G
|
rs536808870
|
0.00002
|
NM_033087.4(ALG2):c.484A>G (p.Ile162Val)
|
rs529195050
|
0.00002
|
NM_001099922.3(ALG13):c.1064A>G (p.Gln355Arg)
|
rs372521943
|
0.00001
|
NM_001099922.3(ALG13):c.1641A>G (p.Gln547=)
|
rs768589790
|
0.00001
|
NM_001099922.3(ALG13):c.2932+17A>G
|
rs760993782
|
0.00001
|
NM_001099922.3(ALG13):c.486T>C (p.Phe162=)
|
rs751015058
|
0.00001
|
NM_005787.6(ALG3):c.954G>A (p.Ser318=)
|
rs372494174
|
0.00001
|
NM_012463.4(ATP6V0A2):c.2294-4G>A
|
rs551697992
|
0.00001
|
NM_013339.4(ALG6):c.1341C>T (p.Val447=)
|
rs777326636
|
0.00001
|
NM_013339.4(ALG6):c.987+12A>G
|
rs758406155
|
0.00001
|
NM_019109.5(ALG1):c.22C>T (p.Leu8=)
|
rs144712188
|
0.00001
|
NM_024079.5(ALG8):c.1276+10G>A
|
rs531081999
|
0.00001
|
NM_024079.5(ALG8):c.32G>C (p.Gly11Ala)
|
rs538716086
|
0.00001
|
NM_024740.2(ALG9):c.132-14T>G
|
rs782251612
|
0.00001
|
NM_024740.2(ALG9):c.132-15T>G
|
rs782361758
|
0.00001
|
NM_052859.4(RFT1):c.1208+19A>G
|
rs542117380
|
0.00001
|
NM_052859.4(RFT1):c.493G>A (p.Val165Ile)
|
rs571575323
|
0.00001
|
NM_153741.2(DPM3):c.60C>T (p.Ala20=)
|
rs371295542
|
0.00001
|
NC_000001.11:g.20661380G>C
|
rs537816
|
|
NM_000053.4(ATP7B):c.-123_-119dupCGCCG
|
rs148013251
|
|
NM_000303.3(PMM2):c.*1032C>A
|
rs79686490
|
|
NM_000303.3(PMM2):c.*791G>C
|
rs2437722
|
|
NM_000303.3(PMM2):c.179-15dup
|
rs145496357
|
|
NM_000303.3(PMM2):c.447+19T>C
|
rs11074924
|
|
NM_000303.3(PMM2):c.640-28C>G
|
rs181837170
|
|
NM_000303.3(PMM2):c.93C>T (p.Phe31=)
|
rs61730638
|
|
NM_001099922.3(ALG13):c.1186A>C (p.Arg396=)
|
|
|
NM_001099922.3(ALG13):c.1250+8del
|
rs2148114059
|
|
NM_001099922.3(ALG13):c.1601+11G>A
|
rs770867470
|
|
NM_001099922.3(ALG13):c.1818G>A (p.Lys606=)
|
|
|
NM_001099922.3(ALG13):c.2145T>C (p.Tyr715=)
|
|
|
NM_001099922.3(ALG13):c.2248-14TC[2]
|
rs746217514
|
|
NM_001099922.3(ALG13):c.2380GAA[1] (p.Glu795del)
|
rs772766102
|
|
NM_001099922.3(ALG13):c.2457+15_2457+17del
|
rs761459857
|
|
NM_001099922.3(ALG13):c.2457+16T>C
|
|
|
NM_001099922.3(ALG13):c.2457+17A>C
|
|
|
NM_001099922.3(ALG13):c.2754ACC[13] (p.Pro944_Pro945del)
|
rs750710267
|
|
NM_001099922.3(ALG13):c.2754ACC[17] (p.Pro944_Pro945dup)
|
rs750710267
|
|
NM_001099922.3(ALG13):c.2797CCT[11] (p.Pro944_Pro945del)
|
rs56717389
|
|
NM_001099922.3(ALG13):c.2797CCT[12] (p.Pro945del)
|
rs56717389
|
|
NM_001099922.3(ALG13):c.2797CCT[14] (p.Pro945dup)
|
rs56717389
|
|
NM_001099922.3(ALG13):c.2797CCT[9] (p.Pro942_Pro945del)
|
rs56717389
|
|
NM_001099922.3(ALG13):c.2798_2799insACCTCC (p.Pro944_Pro945dup)
|
rs1569522034
|
|
NM_001099922.3(ALG13):c.2860A>G (p.Asn954Asp)
|
|
|
NM_001099922.3(ALG13):c.288C>G (p.Leu96=)
|
|
|
NM_001099922.3(ALG13):c.2987G>A (p.Ser996Asn)
|
|
|
NM_001099922.3(ALG13):c.3221A>G (p.Tyr1074Cys)
|
rs372990620
|
|
NM_001099922.3(ALG13):c.3343A>G (p.Ile1115Val)
|
|
|
NM_001099922.3(ALG13):c.383+8A>G
|
|
|
NM_001099922.3(ALG13):c.751-8_751-6del
|
rs765948340
|
|
NM_001099922.3(ALG13):c.801A>G (p.Ser267=)
|
|
|
NM_001099922.3(ALG13):c.82-10C>T
|
|
|
NM_001099922.3(ALG13):c.834+14A>G
|
|
|
NM_001099922.3(ALG13):c.880C>T (p.Pro294Ser)
|
rs753556936
|
|
NM_002435.3(MPI):c.16+18dup
|
|
|
NM_002435.3(MPI):c.670+9A>G
|
rs7495739
|
|
NM_002435.3(MPI):c.678C>A (p.Ala226=)
|
rs199972529
|
|
NM_002633.3(PGM1):c.1145-6del
|
rs2100998326
|
|
NM_002633.3(PGM1):c.1280+22dup
|
|
|
NM_003859.3(DPM1):c.679-7_679-6insTTT
|
rs11480415
|
|
NM_003859.3(DPM1):c.679-8dup
|
rs11483542
|
|
NM_004870.4(MPDU1):c.403G>C (p.Ala135Pro)
|
rs137983973
|
|
NM_005216.5(DDOST):c.*40A>G
|
rs6893
|
|
NM_005216.5(DDOST):c.1063+34dup
|
rs11428148
|
|
NM_012463.4(ATP6V0A2):c.118-6del
|
|
|
NM_012463.4(ATP6V0A2):c.1190-7dup
|
|
|
NM_012463.4(ATP6V0A2):c.1724+20del
|
rs375845531
|
|
NM_012463.4(ATP6V0A2):c.1724+20dup
|
|
|
NM_012463.4(ATP6V0A2):c.1725-10del
|
|
|
NM_012463.4(ATP6V0A2):c.2466-3del
|
|
|
NM_012463.4(ATP6V0A2):c.2466-3dup
|
rs370511382
|
|
NM_012463.4(ATP6V0A2):c.264G>T (p.Ala88=)
|
rs139785866
|
|
NM_012463.4(ATP6V0A2):c.522-13del
|
rs140638516
|
|
NM_013339.4(ALG6):c.1327-9dup
|
rs1236127359
|
|
NM_013339.4(ALG6):c.257+10del
|
|
|
NM_013339.4(ALG6):c.346+6dup
|
|
|
NM_013339.4(ALG6):c.681-3del
|
rs763183173
|
|
NM_013339.4(ALG6):c.988-14del
|
|
|
NM_013339.4(ALG6):c.988-8dup
|
rs779365053
|
|
NM_015354.3(NUP188):c.-13C>T
|
rs3750324
|
|
NM_019109.5(ALG1):c.208+135dup
|
rs34061670
|
|
NM_019109.5(ALG1):c.208+14G>A
|
|
|
NM_019109.5(ALG1):c.208+16_208+19dup
|
rs35400794
|
|
NM_019109.5(ALG1):c.209-4del
|
|
|
NM_019109.5(ALG1):c.390+13C>A
|
rs62036244
|
|
NM_019109.5(ALG1):c.390+13C>T
|
rs62036244
|
|
NM_019109.5(ALG1):c.630-19C>T
|
rs371014838
|
|
NM_019109.5(ALG1):c.741-13del
|
rs749328532
|
|
NM_019109.5(ALG1):c.741-13dup
|
|
|
NM_024079.5(ALG8):c.1277-16del
|
|
|
NM_024079.5(ALG8):c.174+30del
|
rs59662312
|
|
NM_024079.5(ALG8):c.369-6A>G
|
rs201483866
|
|
NM_024105.4(ALG12):c.-203G>A
|
rs9616379
|
|
NM_024105.4(ALG12):c.1047C>G (p.Ile349Met)
|
rs182006999
|
|
NM_024105.4(ALG12):c.162+12del
|
|
|
NM_024105.4(ALG12):c.406A>G (p.Met136Val)
|
|
|
NM_024592.5(SRD5A3):c.*968C>T
|
rs78470512
|
|
NM_024740.2(ALG9):c.1018+19G>A
|
|
|
NM_024740.2(ALG9):c.132-13del
|
|
|
NM_024740.2(ALG9):c.1604T>G (p.Ile535Ser)
|
rs12575909
|
|
NM_024740.2(ALG9):c.1734-17del
|
|
|
NM_033087.4(ALG2):c.760T>C (p.Leu254=)
|
rs62562374
|
|
NM_052859.4(RFT1):c.267-13dup
|
|
|
NM_052859.4(RFT1):c.267-20del
|
|
|
NM_052859.4(RFT1):c.64-16del
|
rs776377276
|
|
NM_138459.5(NUS1):c.416-23_416-7del
|
rs780531527
|
|
NM_138459.5(NUS1):c.542-14_542-11del
|
rs777604444
|
|
NM_138459.5(NUS1):c.621T>C (p.Phe207=)
|
|
|
NM_138459.5(NUS1):c.691+12dup
|
rs1241006666
|
|
NM_138459.5(NUS1):c.849A>G (p.Gln283=)
|
rs550676
|
|
NM_178862.3(STT3B):c.2401-5dup
|
|
|
NM_201400.4(EEF2KMT):c.*1074C>T
|
rs1957081691
|
|
NM_201400.4(EEF2KMT):c.*893del
|
rs1381360907
|
|
NM_201400.4(EEF2KMT):c.*893dup
|
|
|