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_024740.2(ALG9):c.*2473A>T
|
rs2554994
|
0.69652
|
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_024740.2(ALG9):c.132-12dup
|
rs1555157381
|
0.46207
|
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_002633.3(PGM1):c.*198C>T
|
rs10909
|
0.18377
|
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.*93A>C
|
rs4643
|
0.17191
|
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_001004127.3(ALG11):c.44+324T>C
|
rs77505745
|
0.04331
|
NM_024740.2(ALG9):c.*2474A>T
|
rs376483443
|
0.04275
|
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_001004127.3(ALG11):c.44+154G>A
|
rs111871296
|
0.04085
|
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_000303.3(PMM2):c.*1360C>T
|
rs72766381
|
0.03294
|
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.*37G>A
|
rs61765314
|
0.02669
|
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_024592.5(SRD5A3):c.*275G>T
|
rs145768388
|
0.02343
|
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_024740.2(ALG9):c.*1220C>T
|
rs114406340
|
0.01795
|
NM_000303.3(PMM2):c.*534G>A
|
rs2447929
|
0.01770
|
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_001382.4(DPAGT1):c.*427T>G
|
rs28990975
|
0.01379
|
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_002633.3(PGM1):c.*406T>C
|
rs11557104
|
0.01321
|
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_003863.3(DPM2):c.-382C>T
|
rs112813338
|
0.01257
|
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_013339.4(ALG6):c.*268C>T
|
rs114111123
|
0.01221
|
NM_012463.4(ATP6V0A2):c.2549A>G (p.Asn850Ser)
|
rs75279884
|
0.01166
|
NM_012463.4(ATP6V0A2):c.1606-12G>A
|
rs112415338
|
0.01148
|
NM_024592.5(SRD5A3):c.*2641G>A
|
rs75311188
|
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_024592.5(SRD5A3):c.*1329T>C
|
rs115046277
|
0.01012
|
NM_013339.4(ALG6):c.-121T>G
|
rs116034504
|
0.00994
|
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_000303.3(PMM2):c.*17G>A
|
rs9936097
|
0.00905
|
NM_052859.4(RFT1):c.*799T>A
|
rs148552528
|
0.00885
|
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_024592.5(SRD5A3):c.*2984A>G
|
rs73816266
|
0.00855
|
NM_024592.5(SRD5A3):c.*2112G>A
|
rs143649104
|
0.00838
|
NM_013339.4(ALG6):c.*1415T>G
|
rs148327539
|
0.00827
|
NM_024105.4(ALG12):c.768+17G>A
|
rs145358718
|
0.00827
|
NM_024740.2(ALG9):c.*1607C>T
|
rs117488631
|
0.00826
|
NM_013339.4(ALG6):c.*1434T>C
|
rs141443584
|
0.00822
|
NM_024740.2(ALG9):c.*3750A>C
|
rs114397288
|
0.00792
|
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_024592.5(SRD5A3):c.*2915A>G
|
rs62306203
|
0.00701
|
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_000303.3(PMM2):c.*368C>G
|
rs72766379
|
0.00580
|
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_024740.2(ALG9):c.*1680G>T
|
rs563719515
|
0.00575
|
NM_014908.4(DOLK):c.1dup (p.Met1fs)
|
rs531969689
|
0.00573
|
NM_004341.5(CAD):c.4930T>C (p.Phe1644Leu)
|
rs144692793
|
0.00569
|
NM_024740.2(ALG9):c.1383C>T (p.Thr461=)
|
rs45516107
|
0.00545
|
NM_004341.5(CAD):c.5058C>T (p.Asp1686=)
|
rs61757649
|
0.00528
|
NM_004870.4(MPDU1):c.*462C>T
|
rs545206972
|
0.00524
|
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_024740.2(ALG9):c.*1624A>C
|
rs117091304
|
0.00485
|
NM_019109.5(ALG1):c.1080G>A (p.Ala360=)
|
rs143939207
|
0.00467
|
NM_000303.3(PMM2):c.*915T>A
|
rs114954775
|
0.00441
|
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_013339.4(ALG6):c.*1136C>T
|
rs143324400
|
0.00429
|
NM_021645.6(UTP14C):c.508A>G (p.Ile170Val)
|
rs73184339
|
0.00421
|
NM_013339.4(ALG6):c.*961C>T
|
rs144020923
|
0.00415
|
NM_021645.6(UTP14C):c.-42G>A
|
rs140978619
|
0.00414
|
NM_004870.4(MPDU1):c.618+14C>T
|
rs11078699
|
0.00407
|
NM_052859.4(RFT1):c.*2165T>C
|
rs141744872
|
0.00407
|
NM_052859.4(RFT1):c.*2706C>T
|
rs186393432
|
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_052859.4(RFT1):c.*2820G>A
|
rs143710210
|
0.00369
|
NM_001004127.3(ALG11):c.173A>T (p.Asn58Ile)
|
rs150818619
|
0.00365
|
NM_000303.3(PMM2):c.*492C>G
|
rs548732618
|
0.00352
|
NM_001004127.3(ALG11):c.1032T>G (p.Gly344=)
|
rs143967675
|
0.00348
|
NM_000303.3(PMM2):c.422G>A (p.Arg141His)
|
rs28936415
|
0.00338
|
NM_001099922.3(ALG13):c.2248-4A>G
|
rs370438099
|
0.00325
|
NM_001382.4(DPAGT1):c.*159G>A
|
rs74992671
|
0.00320
|
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_024592.5(SRD5A3):c.*991C>T
|
rs148298848
|
0.00298
|
NM_001099922.3(ALG13):c.2799T>A (p.Pro933=)
|
rs13440710
|
0.00296
|
NM_178862.3(STT3B):c.1172+15A>G
|
rs60153256
|
0.00288
|
NM_024592.5(SRD5A3):c.*1624G>A
|
rs181336685
|
0.00283
|
NM_024105.4(ALG12):c.1155C>T (p.Pro385=)
|
rs113652023
|
0.00282
|
NM_024592.5(SRD5A3):c.*104T>A
|
rs116416011
|
0.00280
|
NM_033087.4(ALG2):c.349-17A>G
|
rs193069827
|
0.00275
|
NM_033087.4(ALG2):c.84C>G (p.Gly28=)
|
rs61744789
|
0.00268
|
NM_019109.5(ALG1):c.867C>T (p.Asp289=)
|
rs144029725
|
0.00265
|
NM_024740.2(ALG9):c.*2230A>C
|
rs116530919
|
0.00264
|
NM_024740.2(ALG9):c.*3471A>G
|
rs186742619
|
0.00264
|
NM_003863.4(DPM2):c.3+12A>G
|
rs2274425
|
0.00262
|
NM_012463.4(ATP6V0A2):c.1258G>T (p.Val420Leu)
|
rs138716143
|
0.00258
|
NM_024740.2(ALG9):c.132-16T>G
|
rs781960988
|
0.00248
|
NM_001099922.3(ALG13):c.2898T>C (p.Tyr966=)
|
rs368002375
|
0.00247
|
NM_019109.4(ALG1):c.191C>A (p.Thr64Asn)
|
rs145474820
|
0.00246
|
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_014908.4(DOLK):c.631C>T (p.Arg211Cys)
|
rs145310298
|
0.00238
|
NM_024740.2(ALG9):c.1794C>T (p.Tyr598=)
|
rs77191760
|
0.00238
|
NM_024740.2(ALG9):c.815A>G (p.Tyr272Cys)
|
rs145762575
|
0.00235
|
NM_024592.5(SRD5A3):c.*2884C>T
|
rs529368289
|
0.00230
|
NM_002435.3(MPI):c.414G>A (p.Met138Ile)
|
rs150217523
|
0.00227
|
NM_004870.4(MPDU1):c.662C>G (p.Ser221Cys)
|
rs147742866
|
0.00227
|
NM_024740.2(ALG9):c.*2743T>C
|
rs139048490
|
0.00222
|
NM_019109.5(ALG1):c.1092C>G (p.Val364=)
|
rs113602091
|
0.00221
|
NM_052859.4(RFT1):c.382C>T (p.Leu128Phe)
|
rs140127085
|
0.00219
|
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_052859.4(RFT1):c.1118G>A (p.Arg373His)
|
rs77976718
|
0.00211
|
NM_014908.4(DOLK):c.771C>T (p.Ile257=)
|
rs147416890
|
0.00205
|
NM_024105.4(ALG12):c.*1G>C
|
rs138804791
|
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_024740.2(ALG9):c.*1722C>T
|
rs186477879
|
0.00192
|
NM_052859.4(RFT1):c.5G>A (p.Gly2Asp)
|
rs185366134
|
0.00187
|
NM_013339.4(ALG6):c.-207-12T>C
|
rs183861757
|
0.00186
|
NM_024740.2(ALG9):c.1538C>T (p.Pro513Leu)
|
rs185149177
|
0.00186
|
NM_201400.4(EEF2KMT):c.957G>C (p.Glu319Asp)
|
rs142385356
|
0.00184
|
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_024740.2(ALG9):c.*3423T>C
|
rs78243190
|
0.00176
|
NM_024592.5(SRD5A3):c.*2870A>G
|
rs77437700
|
0.00173
|
NM_001382.4(DPAGT1):c.994T>G (p.Phe332Val)
|
rs138544311
|
0.00172
|
NM_024592.5(SRD5A3):c.-84G>C
|
rs532409901
|
0.00170
|
NM_003859.3(DPM1):c.40C>T (p.Arg14Trp)
|
rs117175017
|
0.00169
|
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_005216.5(DDOST):c.1148C>T (p.Thr383Ile)
|
rs145940009
|
0.00165
|
NM_024740.2(ALG9):c.1603-509A>G
|
rs115136012
|
0.00163
|
NM_024079.5(ALG8):c.96-6G>C
|
rs199911532
|
0.00160
|
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_024740.2(ALG9):c.*3519C>A
|
rs569799426
|
0.00145
|
NM_024105.4(ALG12):c.*363G>A
|
rs568473076
|
0.00144
|
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_052859.4(RFT1):c.1400T>G (p.Leu467Arg)
|
rs144042263
|
0.00140
|
NM_004341.5(CAD):c.83-3C>T
|
rs151119882
|
0.00138
|
NM_024079.5(ALG8):c.675T>C (p.Asp225=)
|
rs139106381
|
0.00138
|
NM_024592.5(SRD5A3):c.*242T>C
|
rs559061546
|
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_000303.3(PMM2):c.*1074T>C
|
rs147284732
|
0.00129
|
NM_002633.3(PGM1):c.*236T>C
|
rs534628770
|
0.00128
|
NM_012463.4(ATP6V0A2):c.1039-12T>C
|
rs190537134
|
0.00128
|
NM_024740.2(ALG9):c.1792T>C (p.Tyr598His)
|
rs201194863
|
0.00128
|
NM_001382.4(DPAGT1):c.918-5C>T
|
rs191573465
|
0.00126
|
NM_052859.4(RFT1):c.*645C>T
|
rs115646874
|
0.00126
|
NM_138459.5(NUS1):c.197G>C (p.Arg66Pro)
|
rs539668656
|
0.00122
|
NM_024740.2(ALG9):c.*1420C>G
|
rs143933458
|
0.00121
|
NM_033087.4(ALG2):c.288C>T (p.Phe96=)
|
rs542863968
|
0.00121
|
NM_003863.4(DPM2):c.64A>G (p.Thr22Ala)
|
rs7042788
|
0.00120
|
NM_001367916.1(MAGT1):c.932T>G (p.Val311Gly)
|
rs145245774
|
0.00119
|
NM_001382.4(DPAGT1):c.573C>T (p.Asn191=)
|
rs62641715
|
0.00117
|
NM_001382.4(DPAGT1):c.1161+16G>A
|
rs201301096
|
0.00116
|
NM_004870.4(MPDU1):c.43C>T (p.Pro15Ser)
|
rs148935720
|
0.00116
|
NM_138459.5(NUS1):c.506C>G (p.Pro169Arg)
|
rs150646335
|
0.00116
|
NM_024105.4(ALG12):c.*393C>T
|
rs550904403
|
0.00114
|
NM_024592.5(SRD5A3):c.110C>T (p.Pro37Leu)
|
rs199975696
|
0.00114
|
NM_021645.6(UTP14C):c.739A>G (p.Lys247Glu)
|
rs144970453
|
0.00113
|
NM_014908.4(DOLK):c.1079A>G (p.Tyr360Cys)
|
rs138453255
|
0.00111
|
NM_024592.5(SRD5A3):c.*2306C>A
|
rs565143999
|
0.00111
|
NM_001382.4(DPAGT1):c.*241T>C
|
rs74657539
|
0.00109
|
NM_178862.3(STT3B):c.2322A>G (p.Ala774=)
|
rs140420950
|
0.00109
|
NM_052859.4(RFT1):c.303C>G (p.Gly101=)
|
rs148576979
|
0.00108
|
NM_024592.5(SRD5A3):c.*590C>T
|
rs149214750
|
0.00105
|
NM_024079.5(ALG8):c.1211C>T (p.Ser404Leu)
|
rs146603801
|
0.00103
|
NM_052859.4(RFT1):c.826+7T>C
|
rs192264403
|
0.00103
|
NM_000303.3(PMM2):c.*410A>G
|
rs77027373
|
0.00102
|
NM_001099922.3(ALG13):c.150C>T (p.Pro50=)
|
rs147897682
|
0.00102
|
NM_005787.6(ALG3):c.845C>T (p.Ala282Val)
|
rs2233466
|
0.00102
|
NM_014908.4(DOLK):c.700A>G (p.Met234Val)
|
rs139787271
|
0.00102
|
NM_024592.5(SRD5A3):c.566A>C (p.Tyr189Ser)
|
rs35496669
|
0.00101
|
NM_005216.5(DDOST):c.711C>T (p.Arg237=)
|
rs34189097
|
0.00099
|
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_024592.5(SRD5A3):c.*621C>T
|
rs548604752
|
0.00096
|
NM_002435.3(MPI):c.1049C>T (p.Thr350Met)
|
rs116933453
|
0.00095
|
NM_021645.6(UTP14C):c.326T>A (p.Val109Asp)
|
rs144752647
|
0.00095
|
NM_024079.5(ALG8):c.251A>G (p.Tyr84Cys)
|
rs61995921
|
0.00094
|
NM_019109.5(ALG1):c.21C>T (p.Val7=)
|
rs149388535
|
0.00093
|
NM_024740.2(ALG9):c.*3757T>C
|
rs530143933
|
0.00093
|
NM_019109.5(ALG1):c.787C>T (p.Arg263Trp)
|
rs145317306
|
0.00091
|
NM_024740.2(ALG9):c.*971C>T
|
rs140187723
|
0.00090
|
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_024592.5(SRD5A3):c.*854G>T
|
rs79421332
|
0.00088
|
NM_012463.4(ATP6V0A2):c.773A>G (p.Glu258Gly)
|
rs141467923
|
0.00087
|
NM_000303.3(PMM2):c.*833G>A
|
rs144056509
|
0.00086
|
NM_002435.3(MPI):c.*312T>A
|
rs545401402
|
0.00086
|
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.1299C>T (p.Leu433=)
|
rs150614794
|
0.00083
|
NM_024105.4(ALG12):c.768+16C>T
|
rs558809803
|
0.00083
|
NM_005216.5(DDOST):c.36C>G (p.Leu12=)
|
rs143329944
|
0.00081
|
NM_019109.5(ALG1):c.766G>A (p.Glu256Lys)
|
rs147412842
|
0.00081
|
NM_024592.5(SRD5A3):c.364+19T>C
|
rs201315974
|
0.00081
|
NM_012463.4(ATP6V0A2):c.1069A>T (p.Met357Leu)
|
rs146967928
|
0.00078
|
NM_012463.4(ATP6V0A2):c.1590C>T (p.Pro530=)
|
rs80355657
|
0.00078
|
NM_021645.6(UTP14C):c.-486-6T>C
|
rs200751186
|
0.00078
|
NM_024592.5(SRD5A3):c.*812T>C
|
rs758820353
|
0.00078
|
NM_024740.2(ALG9):c.*3175G>A
|
rs146182772
|
0.00078
|
NM_003863.3(DPM2):c.-587C>T
|
rs566910080
|
0.00077
|
NM_024740.2(ALG9):c.*314G>A
|
rs781928817
|
0.00077
|
NM_012463.4(ATP6V0A2):c.1521C>T (p.Ser507=)
|
rs142454880
|
0.00076
|
NM_000303.3(PMM2):c.639+19G>C
|
rs145473288
|
0.00074
|
NM_014908.4(DOLK):c.671A>T (p.Asp224Val)
|
rs17485436
|
0.00074
|
NM_000303.3(PMM2):c.640-13C>T
|
rs372181885
|
0.00073
|
NM_001382.4(DPAGT1):c.918-4G>A
|
rs201656540
|
0.00073
|
NM_014908.4(DOLK):c.873C>T (p.Leu291=)
|
rs148646968
|
0.00073
|
NM_002633.3(PGM1):c.572C>T (p.Ser191Leu)
|
rs147971989
|
0.00072
|
NM_014908.4(DOLK):c.1314C>T (p.Leu438=)
|
rs148118523
|
0.00071
|
NM_024740.2(ALG9):c.1762G>T (p.Val588Phe)
|
rs150225347
|
0.00071
|
NM_024592.5(SRD5A3):c.672C>T (p.Leu224=)
|
rs144834899
|
0.00070
|
NM_002633.3(PGM1):c.247-5696A>T
|
rs200881174
|
0.00069
|
NM_005787.6(ALG3):c.1084G>A (p.Val362Ile)
|
rs186946267
|
0.00068
|
NM_001382.4(DPAGT1):c.643+11T>A
|
rs185858377
|
0.00067
|
NM_005216.5(DDOST):c.148C>T (p.Leu50=)
|
rs143421115
|
0.00066
|
NM_024105.4(ALG12):c.319G>A (p.Val107Met)
|
rs147784926
|
0.00066
|
NM_001099922.3(ALG13):c.3093A>G (p.Gln1031=)
|
rs372260338
|
0.00065
|
NM_013339.4(ALG6):c.257+5G>A
|
rs199682486
|
0.00065
|
NM_024592.5(SRD5A3):c.*1665G>A
|
rs534350836
|
0.00065
|
NM_024592.5(SRD5A3):c.*2248G>A
|
rs757166668
|
0.00065
|
NM_138459.5(NUS1):c.63G>T (p.Thr21=)
|
rs550854234
|
0.00065
|
NM_003863.3(DPM2):c.-429G>T
|
rs192275912
|
0.00064
|
NM_005216.5(DDOST):c.508G>A (p.Val170Ile)
|
rs111334879
|
0.00063
|
NM_033087.4(ALG2):c.348+6G>A
|
rs368075764
|
0.00063
|
NM_052859.4(RFT1):c.*2366T>A
|
rs575340631
|
0.00063
|
NM_004341.5(CAD):c.5392C>A (p.Gln1798Lys)
|
rs138840581
|
0.00062
|
NM_024740.2(ALG9):c.945T>C (p.Asn315=)
|
rs185555263
|
0.00062
|
NM_001382.4(DPAGT1):c.-152C>T
|
rs540454811
|
0.00061
|
NM_001382.4(DPAGT1):c.330C>T (p.Phe110=)
|
rs199994118
|
0.00061
|
NM_003863.3(DPM2):c.*627C>T
|
rs544907409
|
0.00061
|
NM_024079.5(ALG8):c.682A>G (p.Ile228Val)
|
rs150736564
|
0.00061
|
NM_024105.4(ALG12):c.652A>G (p.Ile218Val)
|
rs146322225
|
0.00061
|
NM_024105.4(ALG12):c.665G>C (p.Gly222Ala)
|
rs149209714
|
0.00061
|
NM_001099922.3(ALG13):c.1843C>T (p.Leu615=)
|
rs374231091
|
0.00060
|
NM_002633.3(PGM1):c.-39C>G
|
rs370035290
|
0.00060
|
NM_019109.5(ALG1):c.902-20G>A
|
rs74249172
|
0.00059
|
NM_001004127.3(ALG11):c.802C>A (p.Leu268Ile)
|
rs148434423
|
0.00058
|
NM_001099922.3(ALG13):c.2796A>T (p.Pro932=)
|
rs748742452
|
0.00058
|
NM_001099922.3(ALG13):c.3358A>G (p.Ile1120Val)
|
rs369167525
|
0.00058
|
NM_014908.4(DOLK):c.1114T>A (p.Phe372Ile)
|
rs146395561
|
0.00058
|
NM_024105.4(ALG12):c.469+5G>A
|
rs375025860
|
0.00058
|
NM_024740.2(ALG9):c.*823A>G
|
rs528387467
|
0.00058
|
NM_052859.4(RFT1):c.47C>G (p.Ser16Cys)
|
rs148716754
|
0.00058
|
NM_005787.6(ALG3):c.222C>T (p.Tyr74=)
|
rs200875721
|
0.00056
|
NM_019109.5(ALG1):c.888G>A (p.Leu296=)
|
rs577972473
|
0.00056
|
NM_024105.4(ALG12):c.563G>A (p.Cys188Tyr)
|
rs555600636
|
0.00055
|
NM_033087.4(ALG2):c.475A>G (p.Ile159Val)
|
rs146770430
|
0.00055
|
NM_033087.4(ALG2):c.1132C>T (p.Arg378Cys)
|
rs56393253
|
0.00054
|
NM_024740.2(ALG9):c.405+7G>A
|
rs372345664
|
0.00053
|
NM_019109.5(ALG1):c.991C>T (p.Arg331Cys)
|
rs148933850
|
0.00052
|
NM_024079.5(ALG8):c.478+1G>A
|
rs139832787
|
0.00052
|
NM_000303.3(PMM2):c.*896G>A
|
rs78930414
|
0.00051
|
NM_005216.5(DDOST):c.596C>T (p.Thr199Met)
|
rs142593688
|
0.00051
|
NM_005216.5(DDOST):c.142C>T (p.Arg48Trp)
|
rs140409217
|
0.00050
|
NM_024079.5(ALG8):c.869A>G (p.Asn290Ser)
|
rs61995923
|
0.00050
|
NM_005787.6(ALG3):c.971C>G (p.Ser324Cys)
|
rs2233469
|
0.00049
|
NM_052859.4(RFT1):c.457-10_457-9del
|
rs778675860
|
0.00049
|
NM_001099922.3(ALG13):c.1327-19A>G
|
rs375412069
|
0.00048
|
NM_033087.4(ALG2):c.216G>T (p.Gly72=)
|
rs531748488
|
0.00048
|
NM_052859.4(RFT1):c.520T>C (p.Leu174=)
|
rs149266076
|
0.00048
|
NM_001099922.3(ALG13):c.3399A>G (p.Val1133=)
|
rs372982045
|
0.00047
|
NM_012463.4(ATP6V0A2):c.1970C>T (p.Ala657Val)
|
rs147641581
|
0.00047
|
NM_001099922.3(ALG13):c.2485A>G (p.Met829Val)
|
rs368075878
|
0.00046
|
NM_002435.3(MPI):c.670+11T>C
|
rs144118442
|
0.00046
|
NM_005216.5(DDOST):c.712G>A (p.Val238Ile)
|
rs150551993
|
0.00046
|
NM_019109.5(ALG1):c.391-15C>G
|
rs374836725
|
0.00046
|
NM_024740.2(ALG9):c.537C>T (p.Leu179=)
|
rs199614437
|
0.00046
|
NM_052859.4(RFT1):c.1133A>G (p.Tyr378Cys)
|
rs143232904
|
0.00046
|
NM_001004127.2(ALG11):c.-23C>T
|
rs201534348
|
0.00045
|
NM_001099922.3(ALG13):c.1006-14G>A
|
rs760527824
|
0.00045
|
NM_002633.3(PGM1):c.1143C>T (p.Thr381=)
|
rs140035988
|
0.00045
|
NM_012463.4(ATP6V0A2):c.2384C>T (p.Ala795Val)
|
rs139509075
|
0.00045
|
NM_013339.4(ALG6):c.*404T>C
|
rs138529811
|
0.00045
|
NM_014908.4(DOLK):c.525T>G (p.Val175=)
|
rs200278288
|
0.00045
|
NM_019109.5(ALG1):c.827G>A (p.Arg276Gln)
|
rs201975029
|
0.00045
|
NM_024105.4(ALG12):c.867C>T (p.His289=)
|
rs147801200
|
0.00045
|
NM_001004127.3(ALG11):c.1160A>C (p.Glu387Ala)
|
rs115524395
|
0.00044
|
NM_004870.4(MPDU1):c.560C>T (p.Ala187Val)
|
rs139686892
|
0.00044
|
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_024740.2(ALG9):c.*1977A>G
|
rs181231005
|
0.00043
|
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser)
|
rs190521996
|
0.00042
|
NM_005216.5(DDOST):c.917A>G (p.Asn306Ser)
|
rs764755742
|
0.00042
|
NM_001382.4(DPAGT1):c.729-4A>C
|
rs199873583
|
0.00041
|
NM_024079.5(ALG8):c.1507A>G (p.Ile503Val)
|
rs17856033
|
0.00041
|
NM_024105.4(ALG12):c.1362C>T (p.Val454=)
|
rs12163163
|
0.00041
|
NM_024105.4(ALG12):c.242C>T (p.Ala81Val)
|
rs142586266
|
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_000303.3(PMM2):c.657G>C (p.Glu219Asp)
|
rs144040842
|
0.00039
|
NM_001099922.3(ALG13):c.1971G>A (p.Met657Ile)
|
rs1290639452
|
0.00039
|
NM_001099922.3(ALG13):c.2248-15G>C
|
rs139711892
|
0.00039
|
NM_005787.6(ALG3):c.16C>A (p.Arg6=)
|
rs199587005
|
0.00039
|
NM_014908.4(DOLK):c.1481A>G (p.Asp494Gly)
|
rs145292760
|
0.00039
|
NM_052859.4(RFT1):c.1331C>T (p.Thr444Met)
|
rs147740901
|
0.00039
|
NM_138459.5(NUS1):c.640A>G (p.Lys214Glu)
|
rs146171115
|
0.00039
|
NM_002633.3(PGM1):c.1290C>T (p.Tyr430=)
|
rs140357031
|
0.00038
|
NM_002633.3(PGM1):c.987C>T (p.Arg329=)
|
rs79097301
|
0.00038
|
NM_003863.4(DPM2):c.*553G>A
|
rs886063480
|
0.00038
|
NM_024105.4(ALG12):c.1345C>T (p.Arg449Trp)
|
rs141814567
|
0.00038
|
NM_012463.4(ATP6V0A2):c.954C>T (p.Asp318=)
|
rs75746974
|
0.00037
|
NM_024105.4(ALG12):c.465T>C (p.Pro155=)
|
rs201564211
|
0.00037
|
NM_001099922.3(ALG13):c.1729+14A>G
|
rs763484848
|
0.00036
|
NM_012463.4(ATP6V0A2):c.522-9G>A
|
rs189175284
|
0.00036
|
NM_019109.5(ALG1):c.1089T>G (p.Gly363=)
|
rs146526768
|
0.00036
|
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu)
|
rs28939378
|
0.00036
|
NM_024105.4(ALG12):c.1425G>C (p.Gln475His)
|
rs147000290
|
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_000303.3(PMM2):c.713G>A (p.Arg238His)
|
rs151319324
|
0.00035
|
NM_001099922.3(ALG13):c.104A>G (p.Asn35Ser)
|
rs149808406
|
0.00035
|
NM_001099922.3(ALG13):c.371A>G (p.Tyr124Cys)
|
rs145518377
|
0.00035
|
NM_012463.4(ATP6V0A2):c.1486G>A (p.Ala496Thr)
|
rs143142641
|
0.00035
|
NM_024592.5(SRD5A3):c.*2430C>T
|
rs537128790
|
0.00035
|
NM_001382.4(DPAGT1):c.243C>T (p.Cys81=)
|
rs138519099
|
0.00034
|
NM_003859.3(DPM1):c.19A>G (p.Ser7Gly)
|
rs147804856
|
0.00034
|
NM_004870.4(MPDU1):c.338C>T (p.Thr113Met)
|
rs141320993
|
0.00034
|
NM_005216.5(DDOST):c.384C>T (p.Cys128=)
|
rs148134377
|
0.00034
|
NM_005787.6(ALG3):c.669C>T (p.Leu223=)
|
rs146607327
|
0.00034
|
NM_012463.4(ATP6V0A2):c.1458G>A (p.Ser486=)
|
rs146156426
|
0.00034
|
NM_024740.2(ALG9):c.*2114C>T
|
rs45452093
|
0.00034
|
NM_024740.2(ALG9):c.*2287A>G
|
rs185264895
|
0.00034
|
NM_024740.2(ALG9):c.*2414T>G
|
rs189536081
|
0.00034
|
NM_052859.4(RFT1):c.*3068A>C
|
rs571109920
|
0.00034
|
NM_052859.4(RFT1):c.1356C>T (p.Arg452=)
|
rs113829901
|
0.00034
|
NM_012463.4(ATP6V0A2):c.1327-16G>A
|
rs149092701
|
0.00033
|
NM_012463.4(ATP6V0A2):c.1766C>T (p.Pro589Leu)
|
rs149700024
|
0.00033
|
NM_033087.4(ALG2):c.167C>T (p.Pro56Leu)
|
rs201959100
|
0.00033
|
NM_024592.5(SRD5A3):c.51G>T (p.Ala17=)
|
rs201123766
|
0.00032
|
NM_024740.2(ALG9):c.*1536T>C
|
rs782678326
|
0.00032
|
NM_024740.2(ALG9):c.694G>C (p.Ala232Pro)
|
rs36111204
|
0.00032
|
NM_153741.2(DPM3):c.55G>T (p.Val19Leu)
|
rs141877691
|
0.00032
|
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_014908.4(DOLK):c.1394G>A (p.Arg465His)
|
rs148930043
|
0.00031
|
NM_019109.5(ALG1):c.769C>T (p.Arg257Trp)
|
rs759843220
|
0.00031
|
NM_024079.5(ALG8):c.1506C>T (p.Gly502=)
|
rs148820351
|
0.00031
|
NM_024740.2(ALG9):c.1659C>T (p.Pro553=)
|
rs2276263
|
0.00031
|
NM_003859.3(DPM1):c.*248T>A
|
rs1020154329
|
0.00030
|
NM_012463.4(ATP6V0A2):c.1106G>A (p.Arg369Gln)
|
rs141310219
|
0.00030
|
NM_015354.3(NUP188):c.8C>T (p.Ala3Val)
|
rs746695959
|
0.00030
|
NM_024105.4(ALG12):c.*475G>A
|
rs186563620
|
0.00030
|
NM_138459.5(NUS1):c.537T>A (p.Asp179Glu)
|
rs28362519
|
0.00030
|
NM_000303.3(PMM2):c.*1434C>A
|
rs546341789
|
0.00029
|
NM_000303.3(PMM2):c.*477G>A
|
rs529074146
|
0.00029
|
NM_001382.4(DPAGT1):c.*265A>G
|
rs28990974
|
0.00029
|
NM_001382.4(DPAGT1):c.125G>A (p.Cys42Tyr)
|
rs375679649
|
0.00029
|
NM_003859.3(DPM1):c.22C>T (p.Arg8Cys)
|
rs201392536
|
0.00029
|
NM_004870.4(MPDU1):c.537C>T (p.Asn179=)
|
rs149675859
|
0.00029
|
NM_138459.5(NUS1):c.174G>T (p.Lys58Asn)
|
rs761121795
|
0.00029
|
NM_004341.5(CAD):c.5429G>A (p.Arg1810Gln)
|
rs139332887
|
0.00028
|
NM_012463.4(ATP6V0A2):c.1936-7C>T
|
rs370135665
|
0.00028
|
NM_052859.4(RFT1):c.*2457A>G
|
rs560974236
|
0.00028
|
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_000303.3(PMM2):c.722G>C (p.Cys241Ser)
|
rs80338709
|
0.00027
|
NM_001099922.3(ALG13):c.2975G>A (p.Cys992Tyr)
|
rs190790872
|
0.00027
|
NM_002435.3(MPI):c.819C>T (p.Asn273=)
|
rs576592379
|
0.00027
|
NM_003863.3(DPM2):c.-211T>G
|
rs187834148
|
0.00027
|
NM_004341.5(CAD):c.461A>G (p.Asn154Ser)
|
rs147694325
|
0.00027
|
NM_001004127.3(ALG11):c.256T>G (p.Leu86Val)
|
rs182350911
|
0.00026
|
NM_002435.3(MPI):c.1050G>A (p.Thr350=)
|
rs145431554
|
0.00026
|
NM_002633.3(PGM1):c.1103C>T (p.Ala368Val)
|
rs145972303
|
0.00026
|
NM_005216.5(DDOST):c.509T>C (p.Val170Ala)
|
rs146767054
|
0.00026
|
NM_012463.4(ATP6V0A2):c.309G>T (p.Lys103Asn)
|
rs144499089
|
0.00026
|
NM_013339.4(ALG6):c.*47A>T
|
rs372767276
|
0.00026
|
NM_014908.4(DOLK):c.1512T>C (p.Ala504=)
|
rs183735415
|
0.00026
|
NM_019109.5(ALG1):c.694C>T (p.Arg232Trp)
|
rs148301670
|
0.00026
|
NM_024740.2(ALG9):c.741G>T (p.Arg247Ser)
|
rs200946042
|
0.00026
|
NM_052859.4(RFT1):c.*2790G>A
|
rs866438979
|
0.00026
|
NM_178862.3(STT3B):c.136G>A (p.Gly46Ser)
|
rs527396203
|
0.00026
|
NM_002435.3(MPI):c.671-4T>G
|
rs199719453
|
0.00025
|
NM_002633.3(PGM1):c.734C>T (p.Ala245Val)
|
rs929270819
|
0.00025
|
NM_005216.5(DDOST):c.352+9G>A
|
rs367895981
|
0.00025
|
NM_012463.4(ATP6V0A2):c.614C>T (p.Ala205Val)
|
rs143802431
|
0.00025
|
NM_019109.5(ALG1):c.1036C>A (p.Pro346Thr)
|
rs143676440
|
0.00025
|
NM_024740.2(ALG9):c.1489A>G (p.Ile497Val)
|
rs138584071
|
0.00025
|
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_002435.3(MPI):c.908T>C (p.Ile303Thr)
|
rs139866632
|
0.00024
|
NM_003863.3(DPM2):c.-612G>C
|
rs886063487
|
0.00024
|
NM_005787.6(ALG3):c.933-4C>T
|
rs190571910
|
0.00024
|
NM_013339.4(ALG6):c.963T>A (p.Ser321=)
|
rs141511876
|
0.00024
|
NM_014908.3(DOLK):c.-386C>A
|
rs576979416
|
0.00024
|
NM_024105.4(ALG12):c.1068C>T (p.Ala356=)
|
rs371321442
|
0.00024
|
NM_024105.4(ALG12):c.470-11C>T
|
rs375328311
|
0.00024
|
NM_178862.3(STT3B):c.2366A>G (p.Asn789Ser)
|
rs139208333
|
0.00024
|
NM_001099922.3(ALG13):c.3143C>G (p.Ala1048Gly)
|
rs773401427
|
0.00023
|
NM_001099922.3(ALG13):c.886-16C>A
|
rs780688383
|
0.00023
|
NM_002633.3(PGM1):c.735G>A (p.Ala245=)
|
rs146028700
|
0.00023
|
NM_004870.4(MPDU1):c.*105G>A
|
rs190574792
|
0.00023
|
NM_012463.4(ATP6V0A2):c.994G>A (p.Glu332Lys)
|
rs144949442
|
0.00023
|
NM_019109.5(ALG1):c.540-13T>C
|
rs201477967
|
0.00023
|
NM_024079.5(ALG8):c.1285A>G (p.Ile429Val)
|
rs200068321
|
0.00023
|
NM_024740.2(ALG9):c.*2472T>A
|
rs886047667
|
0.00023
|
NM_052859.4(RFT1):c.*127G>A
|
rs570767824
|
0.00023
|
NM_138459.5(NUS1):c.578C>T (p.Pro193Leu)
|
rs146009370
|
0.00023
|
NM_002435.3(MPI):c.573C>T (p.Ala191=)
|
rs200903491
|
0.00022
|
NM_003859.3(DPM1):c.385C>A (p.Pro129Thr)
|
rs752831768
|
0.00022
|
NM_005787.6(ALG3):c.*152C>T
|
rs186599528
|
0.00022
|
NM_024740.2(ALG9):c.*2457G>T
|
rs201995459
|
0.00022
|
NM_033087.4(ALG2):c.472C>A (p.Pro158Thr)
|
rs140382423
|
0.00022
|
NM_138459.5(NUS1):c.69C>G (p.Thr23=)
|
rs568916715
|
0.00022
|
NM_001004127.3(ALG11):c.535G>A (p.Ala179Thr)
|
rs202195109
|
0.00021
|
NM_001099922.3(ALG13):c.2933-14A>G
|
rs755886617
|
0.00021
|
NM_001382.4(DPAGT1):c.250A>C (p.Lys84Gln)
|
rs112355069
|
0.00021
|
NM_002435.3(MPI):c.656G>A (p.Arg219Gln)
|
rs104894489
|
0.00021
|
NM_002633.3(PGM1):c.420A>G (p.Pro140=)
|
rs141007881
|
0.00021
|
NM_003859.3(DPM1):c.357T>C (p.Ala119=)
|
rs371895653
|
0.00021
|
NM_005216.5(DDOST):c.1170+16dup
|
rs566726706
|
0.00021
|
NM_005216.5(DDOST):c.894G>C (p.Arg298=)
|
rs145327708
|
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_024079.5(ALG8):c.175-13A>G
|
rs186117363
|
0.00021
|
NM_024105.4(ALG12):c.966C>T (p.Ile322=)
|
rs573103699
|
0.00021
|
NM_024740.2(ALG9):c.*3213G>A
|
rs939244636
|
0.00021
|
NM_052859.4(RFT1):c.*2789C>T
|
rs371144725
|
0.00021
|
NM_052859.4(RFT1):c.831G>A (p.Val277=)
|
rs150391936
|
0.00021
|
NM_000303.3(PMM2):c.*242C>T
|
rs866278750
|
0.00020
|
NM_001099922.3(ALG13):c.2269A>G (p.Met757Val)
|
rs1451116623
|
0.00020
|
NM_013339.4(ALG6):c.882T>C (p.Arg294=)
|
rs145894044
|
0.00020
|
NM_014908.4(DOLK):c.159C>G (p.Ala53=)
|
rs199857223
|
0.00020
|
NM_019109.5(ALG1):c.480C>T (p.Gly160=)
|
rs140674382
|
0.00020
|
NM_052859.4(RFT1):c.266C>T (p.Thr89Ile)
|
rs199788972
|
0.00020
|
NM_052859.4(RFT1):c.632C>T (p.Thr211Ile)
|
rs148289202
|
0.00020
|
NM_138459.5(NUS1):c.224G>A (p.Gly75Glu)
|
rs557867164
|
0.00020
|
NM_000303.3(PMM2):c.*52C>T
|
rs565165106
|
0.00019
|
NM_000303.3(PMM2):c.*733C>T
|
rs886052466
|
0.00019
|
NM_000303.3(PMM2):c.90C>G (p.Asp30Glu)
|
rs201556985
|
0.00019
|
NM_001004127.3(ALG11):c.1452A>G (p.Leu484=)
|
rs188332164
|
0.00019
|
NM_001004127.3(ALG11):c.406C>T (p.Arg136Cys)
|
rs150101415
|
0.00019
|
NM_001382.4(DPAGT1):c.1201C>T (p.Leu401Phe)
|
rs150532554
|
0.00019
|
NM_002435.3(MPI):c.1178G>C (p.Gly393Ala)
|
rs201815588
|
0.00019
|
NM_003863.3(DPM2):c.-523C>A
|
rs1010662067
|
0.00019
|
NM_012463.4(ATP6V0A2):c.1039-13G>T
|
rs375793162
|
0.00019
|
NM_012463.4(ATP6V0A2):c.1430A>T (p.Asn477Ile)
|
rs532258057
|
0.00019
|
NM_014908.4(DOLK):c.*124A>G
|
rs758102948
|
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_024079.5(ALG8):c.980C>G (p.Thr327Arg)
|
rs141068538
|
0.00019
|
NM_024105.4(ALG12):c.1152C>G (p.Pro384=)
|
rs375721419
|
0.00019
|
NM_024105.4(ALG12):c.1239G>C (p.Arg413Ser)
|
rs142027212
|
0.00019
|
NM_024592.5(SRD5A3):c.698-8C>T
|
rs369712923
|
0.00019
|
NM_033087.4(ALG2):c.399C>G (p.Ile133Met)
|
rs371772900
|
0.00019
|
NM_052859.4(RFT1):c.*3093C>G
|
rs886058710
|
0.00019
|
NM_052859.4(RFT1):c.*880C>G
|
rs557106378
|
0.00019
|
NM_052859.4(RFT1):c.1283G>A (p.Ser428Asn)
|
rs201230044
|
0.00019
|
NM_178862.3(STT3B):c.141C>T (p.Gly47=)
|
rs367626371
|
0.00019
|
NM_002633.3(PGM1):c.371A>G (p.Asn124Ser)
|
rs367689770
|
0.00018
|
NM_052859.4(RFT1):c.1529G>A (p.Gly510Glu)
|
rs142016662
|
0.00018
|
NM_000303.3(PMM2):c.*1195G>T
|
rs186712555
|
0.00017
|
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln)
|
rs141498002
|
0.00017
|
NM_005216.4(DDOST):c.16T>G (p.Cys6Gly)
|
rs149951380
|
0.00017
|
NM_005216.5(DDOST):c.999C>T (p.Gly333=)
|
rs190780604
|
0.00017
|
NM_013339.4(ALG6):c.*1169G>A
|
rs536772187
|
0.00017
|
NM_014908.4(DOLK):c.579G>A (p.Glu193=)
|
rs28365522
|
0.00017
|
NM_024105.4(ALG12):c.1082C>T (p.Thr361Met)
|
rs748537273
|
0.00017
|
NM_024592.5(SRD5A3):c.43C>T (p.Leu15=)
|
rs376944136
|
0.00017
|
NM_024740.2(ALG9):c.*1832A>C
|
rs772136205
|
0.00017
|
NM_002435.3(MPI):c.1125G>A (p.Gly375=)
|
rs552854858
|
0.00016
|
NM_002633.3(PGM1):c.1137C>T (p.Phe379=)
|
rs367648776
|
0.00016
|
NM_002633.3(PGM1):c.1515C>T (p.Ser505=)
|
rs61760978
|
0.00016
|
NM_002633.3(PGM1):c.1600-3C>T
|
rs375450688
|
0.00016
|
NM_002633.3(PGM1):c.900T>C (p.His300=)
|
rs145807501
|
0.00016
|
NM_003859.3(DPM1):c.779C>T (p.Thr260Ile)
|
rs146262101
|
0.00016
|
NM_003863.3(DPM2):c.-141G>A
|
rs886063485
|
0.00016
|
NM_014908.4(DOLK):c.1257C>G (p.Ile419Met)
|
rs138962748
|
0.00016
|
NM_019109.5(ALG1):c.361A>C (p.Arg121=)
|
rs149695050
|
0.00016
|
NM_019109.5(ALG1):c.477T>C (p.Tyr159=)
|
rs145487895
|
0.00016
|
NM_024105.4(ALG12):c.1057G>A (p.Val353Met)
|
rs374327138
|
0.00016
|
NM_024105.4(ALG12):c.437G>A (p.Arg146Gln)
|
rs121907932
|
0.00016
|
NM_052859.4(RFT1):c.*1124T>A
|
rs554646046
|
0.00016
|
NM_052859.4(RFT1):c.149+16C>T
|
rs201161797
|
0.00016
|
NM_153741.2(DPM3):c.249C>A (p.Ala83=)
|
rs193215070
|
0.00016
|
NM_178862.3(STT3B):c.657C>T (p.Ser219=)
|
rs145698887
|
0.00016
|
NM_000303.3(PMM2):c.*10G>A
|
rs200930493
|
0.00015
|
NM_001099922.3(ALG13):c.2654T>C (p.Ile885Thr)
|
rs781459134
|
0.00015
|
NM_002435.3(MPI):c.1139G>A (p.Ser380Asn)
|
rs141660799
|
0.00015
|
NM_003863.3(DPM2):c.*632T>C
|
rs371958283
|
0.00015
|
NM_003863.4(DPM2):c.154G>A (p.Ala52Thr)
|
rs147263320
|
0.00015
|
NM_014908.4(DOLK):c.1324G>A (p.Ala442Thr)
|
rs143641133
|
0.00015
|
NM_024105.4(ALG12):c.55G>A (p.Ala19Thr)
|
rs138266806
|
0.00015
|
NM_024592.5(SRD5A3):c.108G>T (p.Pro36=)
|
rs200253126
|
0.00015
|
NM_024740.2(ALG9):c.1356A>G (p.Glu452=)
|
rs200460892
|
0.00015
|
NM_052859.4(RFT1):c.*3286C>T
|
rs766245126
|
0.00015
|
NM_052859.4(RFT1):c.1101C>T (p.Ser367=)
|
rs139445704
|
0.00015
|
NM_000303.3(PMM2):c.109C>T (p.Gln37Ter)
|
rs764353860
|
0.00014
|
NM_000303.3(PMM2):c.442G>A (p.Asp148Asn)
|
rs148032587
|
0.00014
|
NM_000303.3(PMM2):c.634A>G (p.Met212Val)
|
rs3743808
|
0.00014
|
NM_001099922.3(ALG13):c.13T>C (p.Phe5Leu)
|
rs199754211
|
0.00014
|
NM_001099922.3(ALG13):c.2070T>C (p.Asp690=)
|
rs371239344
|
0.00014
|
NM_001099922.3(ALG13):c.2802T>A (p.Pro934=)
|
rs865879266
|
0.00014
|
NM_001382.4(DPAGT1):c.728+9G>A
|
rs369353136
|
0.00014
|
NM_002435.3(MPI):c.977C>G (p.Pro326Arg)
|
rs199956743
|
0.00014
|
NM_002633.3(PGM1):c.529T>G (p.Leu177Val)
|
rs112293909
|
0.00014
|
NM_003859.3(DPM1):c.759A>G (p.Leu253=)
|
rs769964944
|
0.00014
|
NM_005216.5(DDOST):c.1221G>A (p.Ser407=)
|
rs142441124
|
0.00014
|
NM_005216.5(DDOST):c.752T>C (p.Phe251Ser)
|
rs199782279
|
0.00014
|
NM_005787.6(ALG3):c.606-8C>T
|
rs368253820
|
0.00014
|
NM_012463.4(ATP6V0A2):c.658A>G (p.Ile220Val)
|
rs763991801
|
0.00014
|
NM_014908.4(DOLK):c.1438A>G (p.Ile480Val)
|
rs144209926
|
0.00014
|
NM_019109.5(ALG1):c.629+20C>T
|
rs371416008
|
0.00014
|
NM_024592.5(SRD5A3):c.*1518C>T
|
rs780042332
|
0.00014
|
NM_024592.5(SRD5A3):c.*2983T>C
|
rs924086302
|
0.00014
|
NM_024592.5(SRD5A3):c.-27G>T
|
rs778218591
|
0.00014
|
NM_033087.4(ALG2):c.217G>C (p.Asp73His)
|
rs375634924
|
0.00014
|
NM_052859.4(RFT1):c.1049A>G (p.Tyr350Cys)
|
rs148627975
|
0.00014
|
NM_052859.4(RFT1):c.136G>A (p.Val46Ile)
|
rs141174358
|
0.00014
|
NM_178862.3(STT3B):c.895A>G (p.Ile299Val)
|
rs141238380
|
0.00014
|
NM_001099922.3(ALG13):c.1313C>A (p.Thr438Lys)
|
rs367783946
|
0.00013
|
NM_001099922.3(ALG13):c.1747A>G (p.Ile583Val)
|
rs377397506
|
0.00013
|
NM_001099922.3(ALG13):c.1955G>A (p.Gly652Asp)
|
rs372209528
|
0.00013
|
NM_002633.3(PGM1):c.1028G>A (p.Arg343Gln)
|
rs370265239
|
0.00013
|
NM_003859.3(DPM1):c.564-20A>G
|
rs201186989
|
0.00013
|
NM_003859.3(DPM1):c.679-8T>A
|
rs764913742
|
0.00013
|
NM_004341.5(CAD):c.1118G>A (p.Arg373Gln)
|
rs779009526
|
0.00013
|
NM_012463.4(ATP6V0A2):c.117+19A>T
|
rs746099453
|
0.00013
|
NM_012463.4(ATP6V0A2):c.118-7_118-3del
|
rs777322469
|
0.00013
|
NM_013339.4(ALG6):c.903-13A>G
|
rs190744579
|
0.00013
|
NM_014908.4(DOLK):c.-194G>T
|
rs886063516
|
0.00013
|
NM_014908.4(DOLK):c.633C>T (p.Arg211=)
|
rs147647278
|
0.00013
|
NM_014908.4(DOLK):c.975C>T (p.Ser325=)
|
rs149462670
|
0.00013
|
NM_019109.5(ALG1):c.1187+3A>G
|
rs369160589
|
0.00013
|
NM_019109.5(ALG1):c.1281T>C (p.Phe427=)
|
rs538385814
|
0.00013
|
NM_024079.5(ALG8):c.459C>T (p.Phe153=)
|
rs144501219
|
0.00013
|
NM_024079.5(ALG8):c.898+8A>G
|
rs190448293
|
0.00013
|
NM_024105.4(ALG12):c.*33C>T
|
rs531771418
|
0.00013
|
NM_024105.4(ALG12):c.240C>T (p.Pro80=)
|
rs773878720
|
0.00013
|
NM_024592.5(SRD5A3):c.365-15C>T
|
rs369112025
|
0.00013
|
NM_024740.2(ALG9):c.-30G>A
|
rs886047685
|
0.00013
|
NM_024740.2(ALG9):c.1314A>G (p.Ala438=)
|
rs201611208
|
0.00013
|
NM_052859.4(RFT1):c.*242T>C
|
rs565490076
|
0.00013
|
NM_052859.4(RFT1):c.104T>C (p.Ile35Thr)
|
rs146354877
|
0.00013
|
NM_138459.5(NUS1):c.805C>T (p.His269Tyr)
|
rs1038995750
|
0.00013
|
NM_178862.3(STT3B):c.758G>C (p.Cys253Ser)
|
rs1008042824
|
0.00013
|
NM_000303.3(PMM2):c.149A>T (p.Glu50Val)
|
rs182336960
|
0.00012
|
NM_001004127.3(ALG11):c.10G>A (p.Gly4Ser)
|
rs201560109
|
0.00012
|
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_001099922.3(ALG13):c.417T>C (p.Ile139=)
|
rs748326545
|
0.00012
|
NM_001382.4(DPAGT1):c.496+3A>G
|
rs565154071
|
0.00012
|
NM_012463.4(ATP6V0A2):c.539T>C (p.Ile180Thr)
|
rs754727464
|
0.00012
|
NM_013339.4(ALG6):c.1361C>T (p.Thr454Met)
|
rs138890428
|
0.00012
|
NM_014908.4(DOLK):c.1446G>A (p.Ala482=)
|
rs201027607
|
0.00012
|
NM_019109.5(ALG1):c.812C>T (p.Thr271Met)
|
rs368722637
|
0.00012
|
NM_024105.4(ALG12):c.1428A>G (p.Thr476=)
|
rs191342997
|
0.00012
|
NM_024740.2(ALG9):c.62C>T (p.Ala21Val)
|
rs1298391733
|
0.00012
|
NM_052859.4(RFT1):c.1332G>A (p.Thr444=)
|
rs139487607
|
0.00012
|
NM_138459.5(NUS1):c.844C>T (p.Arg282Cys)
|
rs150953098
|
0.00012
|
NM_001099922.3(ALG13):c.2787A>G (p.Pro929=)
|
rs772431643
|
0.00011
|
NM_002435.3(MPI):c.378G>A (p.Pro126=)
|
rs752948071
|
0.00011
|
NM_002633.3(PGM1):c.1028+11C>A
|
rs541069522
|
0.00011
|
NM_005216.5(DDOST):c.733G>A (p.Asp245Asn)
|
rs780103981
|
0.00011
|
NM_012463.4(ATP6V0A2):c.1015C>T (p.Arg339Cys)
|
rs200463200
|
0.00011
|
NM_012463.4(ATP6V0A2):c.2340C>T (p.Arg780=)
|
rs201694504
|
0.00011
|
NM_013339.4(ALG6):c.1032T>C (p.His344=)
|
rs146265933
|
0.00011
|
NM_013339.4(ALG6):c.370T>G (p.Tyr124Asp)
|
rs562509297
|
0.00011
|
NM_019109.5(ALG1):c.1066C>G (p.Leu356Val)
|
rs569498428
|
0.00011
|
NM_019109.5(ALG1):c.284C>T (p.Ala95Val)
|
rs368284764
|
0.00011
|
NM_019109.5(ALG1):c.384T>C (p.Phe128=)
|
rs140626461
|
0.00011
|
NM_019109.5(ALG1):c.802G>A (p.Gly268Arg)
|
rs148611855
|
0.00011
|
NM_021645.6(UTP14C):c.-67A>T
|
rs771744248
|
0.00011
|
NM_024079.5(ALG8):c.1516G>A (p.Ala506Thr)
|
rs149692072
|
0.00011
|
NM_024105.4(ALG12):c.189C>T (p.Val63=)
|
rs190345740
|
0.00011
|
NM_024105.4(ALG12):c.665-15A>G
|
rs373506247
|
0.00011
|
NM_024592.5(SRD5A3):c.*261A>G
|
rs576643627
|
0.00011
|
NM_024592.5(SRD5A3):c.*92G>A
|
rs774927041
|
0.00011
|
NM_024592.5(SRD5A3):c.633C>G (p.Ile211Met)
|
rs142711275
|
0.00011
|
NM_052859.4(RFT1):c.1102+15T>A
|
rs779365531
|
0.00011
|
NM_052859.4(RFT1):c.1401A>G (p.Leu467=)
|
rs138028490
|
0.00011
|
NM_052859.4(RFT1):c.579G>T (p.Leu193=)
|
rs141793370
|
0.00011
|
NM_052859.4(RFT1):c.978T>C (p.Ala326=)
|
rs372101755
|
0.00011
|
NM_138459.5(NUS1):c.318C>T (p.Thr106=)
|
rs573584810
|
0.00011
|
NM_138459.5(NUS1):c.732C>T (p.Phe244=)
|
rs142549647
|
0.00011
|
NM_000303.3(PMM2):c.*1136T>C
|
rs574947575
|
0.00010
|
NM_000303.3(PMM2):c.*1348A>G
|
rs188346349
|
0.00010
|
NM_000303.3(PMM2):c.441C>T (p.Leu147=)
|
rs146990448
|
0.00010
|
NM_000303.3(PMM2):c.66+5G>A
|
rs375808631
|
0.00010
|
NM_001004127.3(ALG11):c.874T>C (p.Leu292=)
|
rs533408732
|
0.00010
|
NM_001099922.3(ALG13):c.1922A>G (p.His641Arg)
|
rs766772102
|
0.00010
|
NM_001099922.3(ALG13):c.2309G>A (p.Gly770Glu)
|
rs751478782
|
0.00010
|
NM_001099922.3(ALG13):c.255C>T (p.Ser85=)
|
rs771286138
|
0.00010
|
NM_001099922.3(ALG13):c.3379C>T (p.Pro1127Ser)
|
rs372841179
|
0.00010
|
NM_001099922.3(ALG13):c.79C>G (p.Gln27Glu)
|
rs1404395085
|
0.00010
|
NM_001382.4(DPAGT1):c.-46C>T
|
rs186992584
|
0.00010
|
NM_002435.3(MPI):c.662C>G (p.Ser221Cys)
|
rs760911969
|
0.00010
|
NM_002435.3(MPI):c.748G>A (p.Gly250Ser)
|
rs748090636
|
0.00010
|
NM_002633.3(PGM1):c.1101C>T (p.Asp367=)
|
rs375432694
|
0.00010
|
NM_002633.3(PGM1):c.1107C>A (p.Ser369Arg)
|
rs200407907
|
0.00010
|
NM_002633.3(PGM1):c.294T>A (p.Ala98=)
|
rs777459281
|
0.00010
|
NM_002633.3(PGM1):c.963G>A (p.Pro321=)
|
rs373693932
|
0.00010
|
NM_005787.6(ALG3):c.1176C>T (p.Ile392=)
|
rs377091766
|
0.00010
|
NM_012463.4(ATP6V0A2):c.1935+8A>G
|
rs377650732
|
0.00010
|
NM_012463.4(ATP6V0A2):c.920C>G (p.Ala307Gly)
|
rs752306671
|
0.00010
|
NM_013339.4(ALG6):c.1442A>G (p.Asn481Ser)
|
rs139521934
|
0.00010
|
NM_013339.4(ALG6):c.482A>G (p.Tyr161Cys)
|
rs201354339
|
0.00010
|
NM_014908.4(DOLK):c.379G>A (p.Val127Met)
|
rs752310792
|
0.00010
|
NM_014908.4(DOLK):c.898C>T (p.Leu300Phe)
|
rs371529625
|
0.00010
|
NM_019109.4(ALG1):c.36T>C (p.Cys12=)
|
rs369180139
|
0.00010
|
NM_019109.5(ALG1):c.540-12C>G
|
rs200506548
|
0.00010
|
NM_019109.5(ALG1):c.863-15A>G
|
rs371947976
|
0.00010
|
NM_024079.5(ALG8):c.1090C>T (p.Arg364Ter)
|
rs376161880
|
0.00010
|
NM_024105.4(ALG12):c.1158G>C (p.Gln386His)
|
rs372390738
|
0.00010
|
NM_024105.4(ALG12):c.132C>T (p.Asp44=)
|
rs140846449
|
0.00010
|
NM_024105.4(ALG12):c.969G>A (p.Thr323=)
|
rs751353681
|
0.00010
|
NM_024740.2(ALG9):c.*906C>A
|
rs147670080
|
0.00010
|
NM_024740.2(ALG9):c.-58A>G
|
rs782440068
|
0.00010
|
NM_024740.2(ALG9):c.789+11T>G
|
rs371939356
|
0.00010
|
NM_033087.4(ALG2):c.232G>C (p.Gly78Arg)
|
rs1054683823
|
0.00010
|
NM_033087.4(ALG2):c.813C>T (p.Asp271=)
|
rs551873509
|
0.00010
|
NM_033087.4(ALG2):c.948G>A (p.Thr316=)
|
rs375746453
|
0.00010
|
NM_052859.4(RFT1):c.*1901G>A
|
rs752158709
|
0.00010
|
NM_052859.4(RFT1):c.110G>A (p.Arg37His)
|
rs139153173
|
0.00010
|
NM_052859.4(RFT1):c.827-14T>C
|
rs571722733
|
0.00010
|
NM_052859.4(RFT1):c.884C>T (p.Pro295Leu)
|
rs770676975
|
0.00010
|
NM_001099922.3(ALG13):c.1089T>C (p.Ala363=)
|
rs760208274
|
0.00009
|
NM_001099922.3(ALG13):c.1277A>G (p.Asn426Ser)
|
rs1208820400
|
0.00009
|
NM_001099922.3(ALG13):c.1741A>G (p.Met581Val)
|
rs373053138
|
0.00009
|
NM_001099922.3(ALG13):c.1834C>T (p.Pro612Ser)
|
rs200516126
|
0.00009
|
NM_001099922.3(ALG13):c.2437A>G (p.Thr813Ala)
|
rs746099604
|
0.00009
|
NM_001099922.3(ALG13):c.544T>A (p.Cys182Ser)
|
rs778876158
|
0.00009
|
NM_001382.4(DPAGT1):c.1154T>G (p.Leu385Arg)
|
rs1016844949
|
0.00009
|
NM_002435.3(MPI):c.167G>A (p.Arg56Gln)
|
rs200452019
|
0.00009
|
NM_002435.3(MPI):c.818A>G (p.Asn273Ser)
|
rs150525282
|
0.00009
|
NM_002633.3(PGM1):c.253C>T (p.Arg85Cys)
|
rs150286818
|
0.00009
|
NM_005216.5(DDOST):c.265+6G>C
|
rs372328091
|
0.00009
|
NM_005216.5(DDOST):c.645+9T>C
|
rs374229790
|
0.00009
|
NM_005787.6(ALG3):c.777C>T (p.Ser259=)
|
rs142901178
|
0.00009
|
NM_012463.4(ATP6V0A2):c.1457C>T (p.Ser486Leu)
|
rs201271558
|
0.00009
|
NM_012463.4(ATP6V0A2):c.1524C>T (p.Val508=)
|
rs182439983
|
0.00009
|
NM_012463.4(ATP6V0A2):c.1665C>T (p.Ser555=)
|
rs373155729
|
0.00009
|
NM_012463.4(ATP6V0A2):c.197-4A>G
|
rs541441279
|
0.00009
|
NM_012463.4(ATP6V0A2):c.28A>G (p.Met10Val)
|
rs758214692
|
0.00009
|
NM_014908.4(DOLK):c.192A>G (p.Leu64=)
|
rs563156233
|
0.00009
|
NM_019109.5(ALG1):c.815G>A (p.Arg272His)
|
rs560302928
|
0.00009
|
NM_024079.5(ALG8):c.1178+7A>G
|
rs766278533
|
0.00009
|
NM_024105.4(ALG12):c.1216C>G (p.Leu406Val)
|
rs772459313
|
0.00009
|
NM_024105.4(ALG12):c.1360G>A (p.Val454Ile)
|
rs777096831
|
0.00009
|
NM_024105.4(ALG12):c.243G>A (p.Ala81=)
|
rs564172046
|
0.00009
|
NM_024105.4(ALG12):c.714G>A (p.Pro238=)
|
rs760973218
|
0.00009
|
NM_024740.2(ALG9):c.*2233A>G
|
rs886047674
|
0.00009
|
NM_024740.2(ALG9):c.*229A>G
|
rs781789551
|
0.00009
|
NM_033087.4(ALG2):c.1038G>A (p.Ser346=)
|
rs200138333
|
0.00009
|
NM_033087.4(ALG2):c.1226G>A (p.Arg409Gln)
|
rs369231996
|
0.00009
|
NM_033087.4(ALG2):c.968G>T (p.Ser323Ile)
|
rs373454393
|
0.00009
|
NM_052859.4(RFT1):c.*2161C>T
|
rs180693200
|
0.00009
|
NM_052859.4(RFT1):c.*2453T>C
|
rs755371328
|
0.00009
|
NM_052859.4(RFT1):c.*649G>A
|
rs915542340
|
0.00009
|
NM_052859.4(RFT1):c.165C>T (p.Tyr55=)
|
rs149529625
|
0.00009
|
NM_052859.4(RFT1):c.267-3T>C
|
rs778876601
|
0.00009
|
NM_052859.4(RFT1):c.924G>A (p.Leu308=)
|
rs140603849
|
0.00009
|
NM_138459.5(NUS1):c.629T>C (p.Leu210Ser)
|
rs1052237
|
0.00009
|
NM_000303.3(PMM2):c.513G>A (p.Thr171=)
|
rs371399381
|
0.00008
|
NM_001099922.3(ALG13):c.1841G>C (p.Arg614Thr)
|
rs752779777
|
0.00008
|
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.621A>T (p.Gly207=)
|
rs371428241
|
0.00008
|
NM_001099922.3(ALG13):c.958C>G (p.Pro320Ala)
|
rs750856311
|
0.00008
|
NM_001099922.3(ALG13):c.975T>G (p.Thr325=)
|
rs767735916
|
0.00008
|
NM_001382.4(DPAGT1):c.*390A>G
|
rs970354016
|
0.00008
|
NM_001382.4(DPAGT1):c.717C>T (p.Leu239=)
|
rs377263230
|
0.00008
|
NM_002435.3(MPI):c.-5C>T
|
rs145533697
|
0.00008
|
NM_003859.3(DPM1):c.*12T>C
|
rs758875594
|
0.00008
|
NM_003859.3(DPM1):c.20G>A (p.Ser7Asn)
|
rs776145598
|
0.00008
|
NM_003863.4(DPM2):c.-5G>A
|
rs371551833
|
0.00008
|
NM_005787.5(ALG3):c.-26G>C
|
rs747569137
|
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_012463.4(ATP6V0A2):c.2308C>T (p.Leu770=)
|
rs149439834
|
0.00008
|
NM_012463.4(ATP6V0A2):c.2367A>G (p.Leu789=)
|
rs142041624
|
0.00008
|
NM_013339.4(ALG6):c.*1004C>A
|
rs886046477
|
0.00008
|
NM_013339.4(ALG6):c.1300T>A (p.Phe434Ile)
|
rs200661626
|
0.00008
|
NM_013339.4(ALG6):c.420T>C (p.Thr140=)
|
rs150097046
|
0.00008
|
NM_013339.4(ALG6):c.915G>A (p.Thr305=)
|
rs112769742
|
0.00008
|
NM_013339.4(ALG6):c.96G>A (p.Pro32=)
|
rs149990175
|
0.00008
|
NM_019109.5(ALG1):c.1263+16A>G
|
rs373065015
|
0.00008
|
NM_019109.5(ALG1):c.150G>A (p.Gln50=)
|
rs144380244
|
0.00008
|
NM_019109.5(ALG1):c.391-11A>G
|
rs767861344
|
0.00008
|
NM_019109.5(ALG1):c.457G>A (p.Val153Ile)
|
rs750216032
|
0.00008
|
NM_024105.4(ALG12):c.768+10A>C
|
rs779065174
|
0.00008
|
NM_024105.4(ALG12):c.777G>A (p.Pro259=)
|
rs138060012
|
0.00008
|
NM_024740.2(ALG9):c.*2907A>T
|
rs782731018
|
0.00008
|
NM_024740.2(ALG9):c.129C>T (p.Thr43=)
|
rs1311317470
|
0.00008
|
NM_024740.2(ALG9):c.132-18T>G
|
rs528601164
|
0.00008
|
NM_033087.4(ALG2):c.389G>A (p.Arg130Gln)
|
rs143625172
|
0.00008
|
NM_052859.4(RFT1):c.1388C>T (p.Ala463Val)
|
rs763302334
|
0.00008
|
NM_052859.4(RFT1):c.150-7T>C
|
rs189282239
|
0.00008
|
NM_052859.4(RFT1):c.1599G>A (p.Val533=)
|
rs372235619
|
0.00008
|
NM_052859.4(RFT1):c.533G>A (p.Gly178Glu)
|
rs373067263
|
0.00008
|
NM_000303.3(PMM2):c.255+2T>C
|
rs139716296
|
0.00007
|
NM_001099922.3(ALG13):c.1813G>A (p.Gly605Ser)
|
rs773666398
|
0.00007
|
NM_001099922.3(ALG13):c.288C>T (p.Leu96=)
|
rs369867857
|
0.00007
|
NM_001099922.3(ALG13):c.756T>G (p.Phe252Leu)
|
rs915629293
|
0.00007
|
NM_001382.4(DPAGT1):c.484C>A (p.His162Asn)
|
rs542516384
|
0.00007
|
NM_002435.3(MPI):c.849C>T (p.Cys283=)
|
rs377419930
|
0.00007
|
NM_003859.3(DPM1):c.*159A>G
|
rs775290919
|
0.00007
|
NM_003859.3(DPM1):c.261T>A (p.Ile87=)
|
rs774440510
|
0.00007
|
NM_003859.3(DPM1):c.684A>G (p.Pro228=)
|
rs369538517
|
0.00007
|
NM_003859.3(DPM1):c.685A>G (p.Ile229Val)
|
rs559946698
|
0.00007
|
NM_004870.4(MPDU1):c.450C>T (p.Pro150=)
|
rs145983820
|
0.00007
|
NM_004870.4(MPDU1):c.636G>C (p.Leu212=)
|
rs148586387
|
0.00007
|
NM_005787.6(ALG3):c.1215C>T (p.Ser405=)
|
rs116621135
|
0.00007
|
NM_005787.6(ALG3):c.1243G>A (p.Val415Ile)
|
rs375976807
|
0.00007
|
NM_005787.6(ALG3):c.248A>G (p.Asn83Ser)
|
rs199565095
|
0.00007
|
NM_012463.4(ATP6V0A2):c.1111C>T (p.Arg371Cys)
|
rs778381327
|
0.00007
|
NM_013339.4(ALG6):c.*670G>A
|
rs367589530
|
0.00007
|
NM_013339.4(ALG6):c.1465T>G (p.Phe489Val)
|
rs145152115
|
0.00007
|
NM_013339.4(ALG6):c.257+15C>A
|
rs761827385
|
0.00007
|
NM_013339.4(ALG6):c.527G>T (p.Trp176Leu)
|
rs773699560
|
0.00007
|
NM_014908.4(DOLK):c.509T>G (p.Val170Gly)
|
rs745609223
|
0.00007
|
NM_019109.5(ALG1):c.1179C>G (p.Asn393Lys)
|
rs537333921
|
0.00007
|
NM_019109.5(ALG1):c.37C>G (p.Leu13Val)
|
rs758104063
|
0.00007
|
NM_019109.5(ALG1):c.965A>G (p.Lys322Arg)
|
rs145851409
|
0.00007
|
NM_021645.6(UTP14C):c.470T>G (p.Val157Gly)
|
rs763915286
|
0.00007
|
NM_024079.5(ALG8):c.1349+5T>C
|
rs886048685
|
0.00007
|
NM_024105.4(ALG12):c.1192G>A (p.Ala398Thr)
|
rs773892105
|
0.00007
|
NM_024105.4(ALG12):c.295+1G>A
|
rs376314741
|
0.00007
|
NM_024105.4(ALG12):c.385A>G (p.Met129Val)
|
rs200068410
|
0.00007
|
NM_024592.5(SRD5A3):c.*2111G>T
|
rs886059477
|
0.00007
|
NM_024592.5(SRD5A3):c.448G>A (p.Val150Ile)
|
rs151267741
|
0.00007
|
NM_033087.4(ALG2):c.1054_1055insTGA (p.Ser352delinsLeuThr)
|
rs763662395
|
0.00007
|
NM_033087.4(ALG2):c.348+20G>C
|
rs768131229
|
0.00007
|
NM_052859.4(RFT1):c.*2991C>T
|
rs891624907
|
0.00007
|
NM_052859.4(RFT1):c.1017C>T (p.Ala339=)
|
rs142123445
|
0.00007
|
NM_052859.4(RFT1):c.1209-6C>T
|
rs543699868
|
0.00007
|
NM_052859.4(RFT1):c.964G>A (p.Val322Ile)
|
rs143888206
|
0.00007
|
NM_138459.5(NUS1):c.271G>A (p.Gly91Ser)
|
rs779673665
|
0.00007
|
NM_138459.5(NUS1):c.791+17G>A
|
rs185389978
|
0.00007
|
NM_178862.3(STT3B):c.2175T>C (p.Phe725=)
|
rs146718873
|
0.00007
|
NM_000303.3(PMM2):c.*1063C>T
|
rs539046271
|
0.00006
|
NM_000303.3(PMM2):c.*1086G>A
|
rs567957339
|
0.00006
|
NM_000303.3(PMM2):c.*246C>T
|
rs756637944
|
0.00006
|
NM_000303.3(PMM2):c.*476C>T
|
rs886052463
|
0.00006
|
NM_000303.3(PMM2):c.256-13T>G
|
rs62031145
|
0.00006
|
NM_000303.3(PMM2):c.339G>A (p.Pro113=)
|
rs149849259
|
0.00006
|
NM_000303.3(PMM2):c.359T>C (p.Ile120Thr)
|
rs368582085
|
0.00006
|
NM_000303.3(PMM2):c.426T>G (p.Ile142Met)
|
rs781610241
|
0.00006
|
NM_000303.3(PMM2):c.430T>C (p.Phe144Leu)
|
rs150719105
|
0.00006
|
NM_000303.3(PMM2):c.435C>T (p.Tyr145=)
|
rs550231531
|
0.00006
|
NM_000303.3(PMM2):c.436G>A (p.Glu146Lys)
|
rs142420230
|
0.00006
|
NM_000303.3(PMM2):c.487A>C (p.Lys163Gln)
|
rs138383066
|
0.00006
|
NM_000303.3(PMM2):c.640-12G>A
|
rs375325546
|
0.00006
|
NM_001004127.3(ALG11):c.1037G>A (p.Arg346His)
|
rs144883776
|
0.00006
|
NM_001004127.3(ALG11):c.44G>C (p.Arg15Thr)
|
rs139798579
|
0.00006
|
NM_001099922.3(ALG13):c.2369-19T>C
|
rs376719251
|
0.00006
|
NM_001099922.3(ALG13):c.2403G>C (p.Glu801Asp)
|
rs778396216
|
0.00006
|
NM_001099922.3(ALG13):c.42C>A (p.Asp14Glu)
|
rs200293248
|
0.00006
|
NM_001099922.3(ALG13):c.620G>A (p.Gly207Glu)
|
rs775381422
|
0.00006
|
NM_001382.4(DPAGT1):c.351A>G (p.Val117=)
|
rs146610900
|
0.00006
|
NM_001382.4(DPAGT1):c.671C>T (p.Ser224Phe)
|
rs751590922
|
0.00006
|
NM_002435.3(MPI):c.*289A>G
|
rs1405523963
|
0.00006
|
NM_002435.3(MPI):c.1269G>A (p.Leu423=)
|
rs371664469
|
0.00006
|
NM_002435.3(MPI):c.390C>T (p.Pro130=)
|
rs140961968
|
0.00006
|
NM_002435.3(MPI):c.61A>G (p.Met21Val)
|
rs376746368
|
0.00006
|
NM_002435.3(MPI):c.708G>A (p.Glu236=)
|
rs530537706
|
0.00006
|
NM_002633.3(PGM1):c.*72A>G
|
rs761043925
|
0.00006
|
NM_002633.3(PGM1):c.1248T>C (p.His416=)
|
rs754762400
|
0.00006
|
NM_002633.3(PGM1):c.442T>G (p.Phe148Val)
|
rs755467080
|
0.00006
|
NM_002633.3(PGM1):c.975G>T (p.Gln325His)
|
rs574355735
|
0.00006
|
NM_003859.3(DPM1):c.261+8A>G
|
rs369077586
|
0.00006
|
NM_003859.3(DPM1):c.286T>C (p.Leu96=)
|
rs780244460
|
0.00006
|
NM_003859.3(DPM1):c.61A>G (p.Ser21Gly)
|
rs148674319
|
0.00006
|
NM_003863.4(DPM2):c.102C>T (p.Ile34=)
|
rs777078287
|
0.00006
|
NM_003863.4(DPM2):c.3+14C>A
|
rs375782774
|
0.00006
|
NM_004870.4(MPDU1):c.12G>A (p.Glu4=)
|
rs146631664
|
0.00006
|
NM_005216.5(DDOST):c.1314C>T (p.Ser438=)
|
rs764406890
|
0.00006
|
NM_005216.5(DDOST):c.236A>G (p.Asn79Ser)
|
rs773982629
|
0.00006
|
NM_005216.5(DDOST):c.552-13C>T
|
rs373356614
|
0.00006
|
NM_005216.5(DDOST):c.573C>A (p.Asn191Lys)
|
rs1038330038
|
0.00006
|
NM_005216.5(DDOST):c.815A>G (p.Tyr272Cys)
|
rs369105590
|
0.00006
|
NM_005787.6(ALG3):c.13C>G (p.Leu5Val)
|
rs369888932
|
0.00006
|
NM_005787.6(ALG3):c.297-6T>C
|
rs371534425
|
0.00006
|
NM_005787.6(ALG3):c.312C>T (p.Phe104=)
|
rs767923381
|
0.00006
|
NM_005787.6(ALG3):c.578G>A (p.Arg193His)
|
rs550144109
|
0.00006
|
NM_012463.4(ATP6V0A2):c.1048G>A (p.Gly350Ser)
|
rs768141782
|
0.00006
|
NM_012463.4(ATP6V0A2):c.1112G>A (p.Arg371His)
|
rs199698721
|
0.00006
|
NM_012463.4(ATP6V0A2):c.2327G>A (p.Arg776His)
|
rs758922111
|
0.00006
|
NM_012463.4(ATP6V0A2):c.2333G>T (p.Gly778Val)
|
rs762614200
|
0.00006
|
NM_012463.4(ATP6V0A2):c.603C>T (p.Ile201=)
|
rs181112338
|
0.00006
|
NM_013339.4(ALG6):c.-141A>G
|
rs1054104046
|
0.00006
|
NM_013339.4(ALG6):c.1002A>G (p.Leu334=)
|
rs377647534
|
0.00006
|
NM_013339.4(ALG6):c.1128-13T>A
|
rs773823994
|
0.00006
|
NM_013339.4(ALG6):c.1314T>C (p.Ile438=)
|
rs146939069
|
0.00006
|
NM_013339.4(ALG6):c.338G>A (p.Arg113His)
|
rs768372697
|
0.00006
|
NM_013339.4(ALG6):c.36A>C (p.Leu12Phe)
|
rs151277583
|
0.00006
|
NM_013339.4(ALG6):c.665G>A (p.Gly222Asp)
|
rs532466353
|
0.00006
|
NM_013339.4(ALG6):c.816+10A>T
|
rs529032571
|
0.00006
|
NM_013339.4(ALG6):c.950T>C (p.Ile317Thr)
|
rs376087919
|
0.00006
|
NM_014908.4(DOLK):c.-255C>T
|
rs886063517
|
0.00006
|
NM_014908.4(DOLK):c.-269G>T
|
rs371065378
|
0.00006
|
NM_014908.4(DOLK):c.1139G>A (p.Arg380His)
|
rs553112177
|
0.00006
|
NM_014908.4(DOLK):c.1197A>G (p.Arg399=)
|
rs767133437
|
0.00006
|
NM_014908.4(DOLK):c.1557C>T (p.Tyr519=)
|
rs367609050
|
0.00006
|
NM_014908.4(DOLK):c.165C>A (p.Tyr55Ter)
|
rs1366267146
|
0.00006
|
NM_014908.4(DOLK):c.210C>G (p.Val70=)
|
rs750368652
|
0.00006
|
NM_014908.4(DOLK):c.323A>G (p.Glu108Gly)
|
rs779008975
|
0.00006
|
NM_014908.4(DOLK):c.344C>T (p.Ala115Val)
|
rs146804211
|
0.00006
|
NM_014908.4(DOLK):c.52G>A (p.Gly18Arg)
|
rs777998210
|
0.00006
|
NM_014908.4(DOLK):c.914C>G (p.Ser305Cys)
|
rs766759178
|
0.00006
|
NM_019109.5(ALG1):c.186G>T (p.Ser62=)
|
rs767351398
|
0.00006
|
NM_019109.5(ALG1):c.19G>A (p.Val7Ile)
|
rs199891552
|
0.00006
|
NM_019109.5(ALG1):c.20T>G (p.Val7Gly)
|
rs780711908
|
0.00006
|
NM_019109.5(ALG1):c.286+13C>G
|
rs767857889
|
0.00006
|
NM_019109.5(ALG1):c.286+15A>C
|
rs376062732
|
0.00006
|
NM_019109.5(ALG1):c.335T>C (p.Met112Thr)
|
rs150943251
|
0.00006
|
NM_019109.5(ALG1):c.485C>T (p.Ser162Phe)
|
rs755804171
|
0.00006
|
NM_019109.5(ALG1):c.728C>T (p.Pro243Leu)
|
rs570334955
|
0.00006
|
NM_019109.5(ALG1):c.770G>A (p.Arg257Gln)
|
rs763925138
|
0.00006
|
NM_019109.5(ALG1):c.962-6G>T
|
rs769389896
|
0.00006
|
NM_019109.5(ALG1):c.993C>T (p.Arg331=)
|
rs561385337
|
0.00006
|
NM_021645.6(UTP14C):c.172C>T (p.Arg58Trp)
|
rs184583544
|
0.00006
|
NM_024079.5(ALG8):c.-7C>T
|
rs542407081
|
0.00006
|
NM_024079.5(ALG8):c.899-15A>G
|
rs760264923
|
0.00006
|
NM_024079.5(ALG8):c.984C>A (p.Val328=)
|
rs757467776
|
0.00006
|
NM_024105.4(ALG12):c.1238+20C>T
|
rs767126536
|
0.00006
|
NM_024105.4(ALG12):c.1244A>G (p.Asp415Gly)
|
rs201717237
|
0.00006
|
NM_024105.4(ALG12):c.1346G>A (p.Arg449Gln)
|
rs148062469
|
0.00006
|
NM_024105.4(ALG12):c.1457G>A (p.Arg486Gln)
|
rs938305311
|
0.00006
|
NM_024105.4(ALG12):c.241G>A (p.Ala81Thr)
|
rs770434145
|
0.00006
|
NM_024105.4(ALG12):c.403G>A (p.Ala135Thr)
|
rs761571791
|
0.00006
|
NM_024105.4(ALG12):c.469+14G>A
|
rs76905919
|
0.00006
|
NM_024105.4(ALG12):c.58G>A (p.Val20Ile)
|
rs140468943
|
0.00006
|
NM_024105.4(ALG12):c.639C>T (p.Ala213=)
|
rs140835842
|
0.00006
|
NM_024105.4(ALG12):c.822C>T (p.Cys274=)
|
rs757984807
|
0.00006
|
NM_024592.5(SRD5A3):c.*707G>T
|
rs886059474
|
0.00006
|
NM_024592.5(SRD5A3):c.123G>A (p.Pro41=)
|
rs760463357
|
0.00006
|
NM_024740.2(ALG9):c.*305C>T
|
rs782183793
|
0.00006
|
NM_024740.2(ALG9):c.*523T>C
|
rs536072357
|
0.00006
|
NM_024740.2(ALG9):c.1533A>G (p.Glu511=)
|
rs377345625
|
0.00006
|
NM_024740.2(ALG9):c.765G>A (p.Ser255=)
|
rs372338362
|
0.00006
|
NM_024740.2(ALG9):c.790-4T>C
|
rs534732271
|
0.00006
|
NM_033087.4(ALG2):c.185A>G (p.Glu62Gly)
|
rs752153404
|
0.00006
|
NM_033087.4(ALG2):c.255C>G (p.Gly85=)
|
rs562977386
|
0.00006
|
NM_033087.4(ALG2):c.346C>G (p.Gln116Glu)
|
rs754476664
|
0.00006
|
NM_033087.4(ALG2):c.390G>A (p.Arg130=)
|
rs375986920
|
0.00006
|
NM_033087.4(ALG2):c.443A>G (p.Asp148Gly)
|
rs369670496
|
0.00006
|
NM_033087.4(ALG2):c.60C>T (p.Leu20=)
|
rs200338773
|
0.00006
|
NM_033087.4(ALG2):c.92G>C (p.Arg31Pro)
|
rs1279623882
|
0.00006
|
NM_033087.4(ALG2):c.934C>T (p.Leu312Phe)
|
rs147346291
|
0.00006
|
NM_033087.4(ALG2):c.981T>C (p.Phe327=)
|
rs34382969
|
0.00006
|
NM_052859.4(RFT1):c.*2052A>G
|
rs762188099
|
0.00006
|
NM_052859.4(RFT1):c.1117C>T (p.Arg373Cys)
|
rs375524916
|
0.00006
|
NM_052859.4(RFT1):c.1270C>T (p.Arg424Cys)
|
rs138803905
|
0.00006
|
NM_052859.4(RFT1):c.1447G>T (p.Ala483Ser)
|
rs549199208
|
0.00006
|
NM_052859.4(RFT1):c.1458+18A>T
|
rs373019694
|
0.00006
|
NM_138459.5(NUS1):c.144C>T (p.Val48=)
|
rs767517042
|
0.00006
|
NM_138459.5(NUS1):c.246C>G (p.His82Gln)
|
rs1023259853
|
0.00006
|
NM_138459.5(NUS1):c.691+11T>A
|
rs201025128
|
0.00006
|
NM_138459.5(NUS1):c.699T>C (p.Asn233=)
|
rs746621138
|
0.00006
|
NM_138459.5(NUS1):c.792-15G>A
|
rs199793068
|
0.00006
|
NM_153741.2(DPM3):c.248C>T (p.Ala83Val)
|
rs777586354
|
0.00006
|
NM_000303.3(PMM2):c.*205C>T
|
rs556232441
|
0.00005
|
NM_000303.3(PMM2):c.*26C>T
|
rs138528126
|
0.00005
|
NM_000303.3(PMM2):c.524-5G>A
|
rs373584132
|
0.00005
|
NM_000303.3(PMM2):c.586G>A (p.Val196Met)
|
rs547216044
|
0.00005
|
NM_000303.3(PMM2):c.738C>G (p.Ser246=)
|
rs373888957
|
0.00005
|
NM_000303.3(PMM2):c.91T>C (p.Phe31Leu)
|
rs749720760
|
0.00005
|
NM_001099922.3(ALG13):c.1087+18A>G
|
rs374773161
|
0.00005
|
NM_001099922.3(ALG13):c.108A>G (p.Arg36=)
|
rs769838471
|
0.00005
|
NM_001099922.3(ALG13):c.1377C>G (p.Ala459=)
|
rs368020541
|
0.00005
|
NM_001099922.3(ALG13):c.139G>A (p.Val47Ile)
|
rs766512298
|
0.00005
|
NM_001099922.3(ALG13):c.1831C>T (p.Leu611Phe)
|
rs199505558
|
0.00005
|
NM_001099922.3(ALG13):c.2213A>G (p.Glu738Gly)
|
rs374174400
|
0.00005
|
NM_001099922.3(ALG13):c.2385A>G (p.Glu795=)
|
rs759719376
|
0.00005
|
NM_001099922.3(ALG13):c.2392T>C (p.Tyr798His)
|
rs1195010293
|
0.00005
|
NM_001099922.3(ALG13):c.2396G>A (p.Arg799His)
|
rs1441099792
|
0.00005
|
NM_001099922.3(ALG13):c.2529+6C>G
|
rs1569520797
|
0.00005
|
NM_001099922.3(ALG13):c.2800C>T (p.Pro934Ser)
|
rs766833930
|
0.00005
|
NM_001099922.3(ALG13):c.2805T>A (p.Pro935=)
|
rs754346057
|
0.00005
|
NM_001099922.3(ALG13):c.2842G>A (p.Asp948Asn)
|
rs750257151
|
0.00005
|
NM_001099922.3(ALG13):c.3240A>G (p.Pro1080=)
|
rs773452673
|
0.00005
|
NM_001099922.3(ALG13):c.857A>G (p.Lys286Arg)
|
rs765500818
|
0.00005
|
NM_001099922.3(ALG13):c.880C>G (p.Pro294Ala)
|
rs753556936
|
0.00005
|
NM_001099922.3(ALG13):c.952C>G (p.Arg318Gly)
|
rs775191661
|
0.00005
|
NM_001099922.3(ALG13):c.978T>C (p.Tyr326=)
|
rs375739139
|
0.00005
|
NM_001382.4(DPAGT1):c.644-10G>A
|
rs192269738
|
0.00005
|
NM_002435.3(MPI):c.132G>A (p.Lys44=)
|
rs778577329
|
0.00005
|
NM_002633.3(PGM1):c.1257G>A (p.Lys419=)
|
rs371451091
|
0.00005
|
NM_003859.3(DPM1):c.456A>G (p.Gly152=)
|
rs370598866
|
0.00005
|
NM_003863.4(DPM2):c.197-5C>T
|
rs886063482
|
0.00005
|
NM_003863.4(DPM2):c.74C>G (p.Thr25Ser)
|
rs1026866240
|
0.00005
|
NM_004341.5(CAD):c.4208G>A (p.Arg1403Gln)
|
rs368332006
|
0.00005
|
NM_004870.4(MPDU1):c.411C>T (p.Tyr137=)
|
rs142551371
|
0.00005
|
NM_005216.5(DDOST):c.207C>T (p.Leu69=)
|
rs753702642
|
0.00005
|
NM_005787.6(ALG3):c.512G>A (p.Arg171Gln)
|
rs119103236
|
0.00005
|
NM_005787.6(ALG3):c.778C>T (p.Arg260Cys)
|
rs749229743
|
0.00005
|
NM_012463.4(ATP6V0A2):c.388C>T (p.His130Tyr)
|
rs199801221
|
0.00005
|
NM_012463.4(ATP6V0A2):c.768C>T (p.Ala256=)
|
rs373419502
|
0.00005
|
NM_013339.4(ALG6):c.*1313T>C
|
rs372013109
|
0.00005
|
NM_013339.4(ALG6):c.1159C>T (p.Leu387=)
|
rs754054503
|
0.00005
|
NM_013339.4(ALG6):c.246A>T (p.Leu82=)
|
rs112029121
|
0.00005
|
NM_013339.4(ALG6):c.555C>T (p.Cys185=)
|
rs144065966
|
0.00005
|
NM_013339.4(ALG6):c.708T>C (p.Cys236=)
|
rs374672230
|
0.00005
|
NM_014908.4(DOLK):c.1011A>G (p.Arg337=)
|
rs375939944
|
0.00005
|
NM_014908.4(DOLK):c.1067G>A (p.Arg356Gln)
|
rs199535796
|
0.00005
|
NM_014908.4(DOLK):c.1166G>A (p.Arg389Gln)
|
rs201984428
|
0.00005
|
NM_014908.4(DOLK):c.1431G>A (p.Met477Ile)
|
rs754150966
|
0.00005
|
NM_014908.4(DOLK):c.1558A>G (p.Thr520Ala)
|
rs374860681
|
0.00005
|
NM_014908.4(DOLK):c.1597C>T (p.Leu533=)
|
rs199672668
|
0.00005
|
NM_014908.4(DOLK):c.33G>A (p.Gly11=)
|
rs375483505
|
0.00005
|
NM_014908.4(DOLK):c.434G>C (p.Gly145Ala)
|
rs377064301
|
0.00005
|
NM_014908.4(DOLK):c.435C>T (p.Gly145=)
|
rs781307203
|
0.00005
|
NM_014908.4(DOLK):c.876C>G (p.Phe292Leu)
|
rs147342916
|
0.00005
|
NM_019109.5(ALG1):c.1188-4G>A
|
rs530972149
|
0.00005
|
NM_019109.5(ALG1):c.522C>T (p.Leu174=)
|
rs776753482
|
0.00005
|
NM_019109.5(ALG1):c.739C>T (p.Arg247Cys)
|
rs749270254
|
0.00005
|
NM_019109.5(ALG1):c.758C>A (p.Pro253Gln)
|
rs770327947
|
0.00005
|
NM_019109.5(ALG1):c.764C>T (p.Thr255Met)
|
rs143906919
|
0.00005
|
NM_019109.5(ALG1):c.774G>C (p.Ser258=)
|
rs757068692
|
0.00005
|
NM_024079.5(ALG8):c.228T>C (p.Tyr76=)
|
rs371862915
|
0.00005
|
NM_024105.4(ALG12):c.-76T>C
|
rs546115000
|
0.00005
|
NM_024105.4(ALG12):c.1331A>G (p.Tyr444Cys)
|
rs374858734
|
0.00005
|
NM_024105.4(ALG12):c.358C>T (p.Arg120Trp)
|
rs772004305
|
0.00005
|
NM_024105.4(ALG12):c.402G>A (p.Thr134=)
|
rs370059291
|
0.00005
|
NM_024105.4(ALG12):c.436C>T (p.Arg146Trp)
|
rs567368110
|
0.00005
|
NM_024105.4(ALG12):c.469+4C>T
|
rs555319649
|
0.00005
|
NM_024105.4(ALG12):c.534C>T (p.Phe178=)
|
rs139916198
|
0.00005
|
NM_024105.4(ALG12):c.617T>A (p.Val206Glu)
|
rs150664343
|
0.00005
|
NM_024740.2(ALG9):c.896-3C>T
|
rs782063335
|
0.00005
|
NM_033087.4(ALG2):c.1200T>C (p.Pro400=)
|
rs764916897
|
0.00005
|
NM_033087.4(ALG2):c.368T>C (p.Val123Ala)
|
rs762560638
|
0.00005
|
NM_052859.4(RFT1):c.*2280T>A
|
rs190988002
|
0.00005
|
NM_052859.4(RFT1):c.1590G>C (p.Gln530His)
|
rs1701001105
|
0.00005
|
NM_052859.4(RFT1):c.280G>A (p.Val94Met)
|
rs151030461
|
0.00005
|
NM_052859.4(RFT1):c.559-15T>G
|
rs371166734
|
0.00005
|
NM_052859.4(RFT1):c.657C>T (p.Ser219=)
|
rs149157065
|
0.00005
|
NM_052859.4(RFT1):c.849T>C (p.Asn283=)
|
rs369926092
|
0.00005
|
NM_138459.5(NUS1):c.166C>T (p.Leu56Phe)
|
rs896791770
|
0.00005
|
NM_178862.3(STT3B):c.1398A>G (p.Pro466=)
|
rs143950703
|
0.00005
|
NM_000303.3(PMM2):c.*365G>T
|
rs886052460
|
0.00004
|
NM_000303.3(PMM2):c.*588G>A
|
rs886052464
|
0.00004
|
NM_000303.3(PMM2):c.-34C>T
|
rs751782324
|
0.00004
|
NM_000303.3(PMM2):c.120A>G (p.Lys40=)
|
rs975864088
|
0.00004
|
NM_000303.3(PMM2):c.135C>T (p.Gly45=)
|
rs748980961
|
0.00004
|
NM_000303.3(PMM2):c.192C>T (p.Tyr64=)
|
rs372537052
|
0.00004
|
NM_000303.3(PMM2):c.24del (p.Cys9fs)
|
rs768021123
|
0.00004
|
NM_000303.3(PMM2):c.384C>T (p.Asn128=)
|
rs147068457
|
0.00004
|
NM_000303.3(PMM2):c.421C>T (p.Arg141Cys)
|
rs746610168
|
0.00004
|
NM_000303.3(PMM2):c.447+4C>T
|
rs537238935
|
0.00004
|
NM_000303.3(PMM2):c.581G>A (p.Arg194Gln)
|
rs371629121
|
0.00004
|
NM_000303.3(PMM2):c.639+10G>A
|
rs200593954
|
0.00004
|
NM_000303.3(PMM2):c.640-15479C>T
|
rs1258107584
|
0.00004
|
NM_000303.3(PMM2):c.691G>A (p.Val231Met)
|
rs80338707
|
0.00004
|
NM_001004127.3(ALG11):c.1029A>G (p.Gly343=)
|
rs147711581
|
0.00004
|
NM_001004127.3(ALG11):c.1269G>A (p.Lys423=)
|
rs369694921
|
0.00004
|
NM_001004127.3(ALG11):c.21C>G (p.Ser7Arg)
|
rs746897177
|
0.00004
|
NM_001004127.3(ALG11):c.325G>A (p.Gly109Ser)
|
rs765666509
|
0.00004
|
NM_001004127.3(ALG11):c.44+19G>A
|
rs748893269
|
0.00004
|
NM_001099922.3(ALG13):c.1304A>G (p.Asn435Ser)
|
rs747478031
|
0.00004
|
NM_001099922.3(ALG13):c.1388A>G (p.Glu463Gly)
|
rs184599884
|
0.00004
|
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.246T>G (p.Gly82=)
|
rs1934561313
|
0.00004
|
NM_001099922.3(ALG13):c.2616A>G (p.Gln872=)
|
rs764400701
|
0.00004
|
NM_001099922.3(ALG13):c.2808T>A (p.Pro936=)
|
rs1402009098
|
0.00004
|
NM_001099922.3(ALG13):c.2811T>A (p.Pro937=)
|
rs1464628002
|
0.00004
|
NM_001099922.3(ALG13):c.3085G>A (p.Val1029Ile)
|
rs368393741
|
0.00004
|
NM_001099922.3(ALG13):c.3130G>A (p.Ala1044Thr)
|
rs1064796719
|
0.00004
|
NM_001099922.3(ALG13):c.3132G>A (p.Ala1044=)
|
rs376626719
|
0.00004
|
NM_001099922.3(ALG13):c.350A>T (p.His117Leu)
|
rs754497897
|
0.00004
|
NM_001099922.3(ALG13):c.511A>G (p.Lys171Glu)
|
rs750037026
|
0.00004
|
NM_001382.4(DPAGT1):c.1139C>T (p.Thr380Ile)
|
rs776720609
|
0.00004
|
NM_001382.4(DPAGT1):c.162-6C>T
|
rs761454590
|
0.00004
|
NM_001382.4(DPAGT1):c.291C>G (p.Ala97=)
|
rs756818317
|
0.00004
|
NM_001382.4(DPAGT1):c.33G>A (p.Leu11=)
|
rs773853061
|
0.00004
|
NM_001382.4(DPAGT1):c.728+6T>C
|
rs373170483
|
0.00004
|
NM_002435.3(MPI):c.*93C>T
|
rs1336372205
|
0.00004
|
NM_002435.3(MPI):c.1053+15A>G
|
rs564765063
|
0.00004
|
NM_002435.3(MPI):c.1053+3G>T
|
rs753145834
|
0.00004
|
NM_002435.3(MPI):c.1175G>A (p.Arg392His)
|
rs762164813
|
0.00004
|
NM_002435.3(MPI):c.1232C>T (p.Pro411Leu)
|
rs147817691
|
0.00004
|
NM_002633.3(PGM1):c.1023G>A (p.Leu341=)
|
rs750218135
|
0.00004
|
NM_002633.3(PGM1):c.1048A>G (p.Ile350Val)
|
rs751121095
|
0.00004
|
NM_002633.3(PGM1):c.1160G>A (p.Arg387His)
|
rs548040301
|
0.00004
|
NM_002633.3(PGM1):c.1336G>A (p.Glu446Lys)
|
rs199918985
|
0.00004
|
NM_002633.3(PGM1):c.1355G>A (p.Arg452His)
|
rs147763516
|
0.00004
|
NM_002633.3(PGM1):c.178G>C (p.Gly60Arg)
|
rs1287963513
|
0.00004
|
NM_002633.3(PGM1):c.57G>A (p.Thr19=)
|
rs764100819
|
0.00004
|
NM_002633.3(PGM1):c.650G>A (p.Arg217Gln)
|
rs188291855
|
0.00004
|
NM_002633.3(PGM1):c.708C>G (p.Ile236Met)
|
rs200237046
|
0.00004
|
NM_002633.3(PGM1):c.787G>T (p.Asp263Tyr)
|
rs587777404
|
0.00004
|
NM_002633.3(PGM1):c.988G>C (p.Gly330Arg)
|
rs777164338
|
0.00004
|
NM_002633.3(PGM1):c.99C>T (p.Ala33=)
|
rs373394538
|
0.00004
|
NM_003859.3(DPM1):c.11T>G (p.Leu4Trp)
|
rs146935617
|
0.00004
|
NM_003859.3(DPM1):c.161+18C>T
|
rs112688266
|
0.00004
|
NM_003859.3(DPM1):c.413G>A (p.Gly138Asp)
|
rs373944766
|
0.00004
|
NM_003859.3(DPM1):c.46G>C (p.Glu16Gln)
|
rs754001081
|
0.00004
|
NM_003859.3(DPM1):c.570C>T (p.Tyr190=)
|
rs754109868
|
0.00004
|
NM_003859.3(DPM1):c.59G>T (p.Arg20Leu)
|
rs376257244
|
0.00004
|
NM_003859.3(DPM1):c.678+9C>T
|
rs749718528
|
0.00004
|
NM_003863.4(DPM2):c.39C>G (p.Leu13=)
|
rs757467123
|
0.00004
|
NM_003863.4(DPM2):c.94-19G>A
|
rs760505582
|
0.00004
|
NM_003863.4(DPM2):c.94-9C>T
|
rs373340697
|
0.00004
|
NM_004870.4(MPDU1):c.149T>C (p.Ile50Thr)
|
rs200909635
|
0.00004
|
NM_004870.4(MPDU1):c.2T>C (p.Met1Thr)
|
rs104894588
|
0.00004
|
NM_004870.4(MPDU1):c.713A>G (p.Lys238Arg)
|
rs775877177
|
0.00004
|
NM_005216.5(DDOST):c.1206G>A (p.Glu402=)
|
rs1262965370
|
0.00004
|
NM_005216.5(DDOST):c.1236C>T (p.Tyr412=)
|
rs376894317
|
0.00004
|
NM_005216.5(DDOST):c.154+19G>C
|
rs200373074
|
0.00004
|
NM_005216.5(DDOST):c.468C>T (p.Ile156=)
|
rs376070047
|
0.00004
|
NM_005216.5(DDOST):c.627G>A (p.Pro209=)
|
rs772970010
|
0.00004
|
NM_005216.5(DDOST):c.710G>A (p.Arg237His)
|
rs774094300
|
0.00004
|
NM_005216.5(DDOST):c.955G>A (p.Val319Met)
|
rs921210147
|
0.00004
|
NM_005787.6(ALG3):c.549C>T (p.Phe183=)
|
rs780507509
|
0.00004
|
NM_005787.6(ALG3):c.642C>T (p.Phe214=)
|
rs545724911
|
0.00004
|
NM_012463.4(ATP6V0A2):c.1118A>G (p.Asn373Ser)
|
rs771839087
|
0.00004
|
NM_012463.4(ATP6V0A2):c.1194C>T (p.Leu398=)
|
rs775345155
|
0.00004
|
NM_012463.4(ATP6V0A2):c.1565C>T (p.Pro522Leu)
|
rs371908109
|
0.00004
|
NM_012463.4(ATP6V0A2):c.2033G>A (p.Arg678His)
|
rs761913726
|
0.00004
|
NM_012463.4(ATP6V0A2):c.2165C>T (p.Ala722Val)
|
rs766224435
|
0.00004
|
NM_012463.4(ATP6V0A2):c.2246A>G (p.Asn749Ser)
|
rs941238473
|
0.00004
|
NM_012463.4(ATP6V0A2):c.2439G>A (p.Ala813=)
|
rs200933894
|
0.00004
|
NM_012463.4(ATP6V0A2):c.26C>T (p.Thr9Ile)
|
rs752689489
|
0.00004
|
NM_012463.4(ATP6V0A2):c.312C>T (p.Leu104=)
|
rs563333869
|
0.00004
|
NM_012463.4(ATP6V0A2):c.515A>G (p.Lys172Arg)
|
rs142935490
|
0.00004
|
NM_012463.4(ATP6V0A2):c.78dup (p.Ser27fs)
|
rs745590426
|
0.00004
|
NM_012463.4(ATP6V0A2):c.791A>G (p.Glu264Gly)
|
rs201247720
|
0.00004
|
NM_013339.4(ALG6):c.-120C>T
|
rs1016079273
|
0.00004
|
NM_013339.4(ALG6):c.-128C>T
|
rs188685870
|
0.00004
|
NM_013339.4(ALG6):c.1120A>G (p.Thr374Ala)
|
rs368086400
|
0.00004
|
NM_013339.4(ALG6):c.1362G>A (p.Thr454=)
|
rs767257355
|
0.00004
|
NM_013339.4(ALG6):c.156G>A (p.Pro52=)
|
rs751004049
|
0.00004
|
NM_013339.4(ALG6):c.167+7T>C
|
rs374146302
|
0.00004
|
NM_013339.4(ALG6):c.1A>G (p.Met1Val)
|
rs562934427
|
0.00004
|
NM_013339.4(ALG6):c.258-16A>G
|
rs1289325321
|
0.00004
|
NM_013339.4(ALG6):c.357T>G (p.Ala119=)
|
rs776226631
|
0.00004
|
NM_013339.4(ALG6):c.618C>T (p.His206=)
|
rs374336458
|
0.00004
|
NM_013339.4(ALG6):c.916T>G (p.Phe306Val)
|
rs769417698
|
0.00004
|
NM_013339.4(ALG6):c.988-20C>T
|
rs377453006
|
0.00004
|
NM_013339.4(ALG6):c.999G>A (p.Ala333=)
|
rs375487839
|
0.00004
|
NM_014908.4(DOLK):c.-94G>T
|
rs567989779
|
0.00004
|
NM_014908.4(DOLK):c.1069C>T (p.Pro357Ser)
|
rs1267588037
|
0.00004
|
NM_014908.4(DOLK):c.114A>G (p.Val38=)
|
rs142000757
|
0.00004
|
NM_014908.4(DOLK):c.1165C>T (p.Arg389Trp)
|
rs758129067
|
0.00004
|
NM_014908.4(DOLK):c.1270A>G (p.Arg424Gly)
|
rs778808864
|
0.00004
|
NM_014908.4(DOLK):c.1283A>C (p.Gln428Pro)
|
rs189623590
|
0.00004
|
NM_014908.4(DOLK):c.1371C>T (p.Phe457=)
|
rs772013831
|
0.00004
|
NM_014908.4(DOLK):c.1422G>A (p.Glu474=)
|
rs894096556
|
0.00004
|
NM_014908.4(DOLK):c.1568T>C (p.Ile523Thr)
|
rs774524497
|
0.00004
|
NM_014908.4(DOLK):c.177G>A (p.Lys59=)
|
rs747110969
|
0.00004
|
NM_014908.4(DOLK):c.807T>C (p.Gly269=)
|
rs769294980
|
0.00004
|
NM_014908.4(DOLK):c.839G>A (p.Arg280His)
|
rs779503646
|
0.00004
|
NM_019109.5(ALG1):c.1048G>A (p.Ala350Thr)
|
rs138275657
|
0.00004
|
NM_019109.5(ALG1):c.1077G>A (p.Ser359=)
|
rs564052127
|
0.00004
|
NM_019109.5(ALG1):c.121G>A (p.Gly41Ser)
|
rs1393282696
|
0.00004
|
NM_019109.5(ALG1):c.1234G>A (p.Asp412Asn)
|
rs200353530
|
0.00004
|
NM_019109.5(ALG1):c.1331C>T (p.Ser444Leu)
|
rs397839861
|
0.00004
|
NM_019109.5(ALG1):c.1353G>A (p.Glu451=)
|
rs772562254
|
0.00004
|
NM_019109.5(ALG1):c.212C>T (p.Ser71Phe)
|
rs200605408
|
0.00004
|
NM_019109.5(ALG1):c.221A>T (p.His74Leu)
|
rs201337379
|
0.00004
|
NM_019109.5(ALG1):c.304C>T (p.Gln102Ter)
|
rs780107088
|
0.00004
|
NM_019109.5(ALG1):c.309C>T (p.Tyr103=)
|
rs199553558
|
0.00004
|
NM_019109.5(ALG1):c.539+3G>C
|
rs1040920105
|
0.00004
|
NM_019109.5(ALG1):c.545A>C (p.Glu182Ala)
|
rs1011307139
|
0.00004
|
NM_019109.5(ALG1):c.639C>T (p.Thr213=)
|
rs753164786
|
0.00004
|
NM_019109.5(ALG1):c.654C>T (p.Pro218=)
|
rs375422039
|
0.00004
|
NM_019109.5(ALG1):c.682G>T (p.Asp228Tyr)
|
rs145158686
|
0.00004
|
NM_019109.5(ALG1):c.715A>C (p.Ser239Arg)
|
rs1373315673
|
0.00004
|
NM_019109.5(ALG1):c.741-13T>C
|
rs368398266
|
0.00004
|
NM_019109.5(ALG1):c.814C>T (p.Arg272Cys)
|
rs774593969
|
0.00004
|
NM_019109.5(ALG1):c.919C>G (p.Leu307Val)
|
rs368735974
|
0.00004
|
NM_021645.6(UTP14C):c.277G>A (p.Val93Ile)
|
rs545278962
|
0.00004
|
NM_021645.6(UTP14C):c.540A>C (p.Arg180Ser)
|
rs201103979
|
0.00004
|
NM_024079.5(ALG8):c.1091G>A (p.Arg364Gln)
|
rs766238263
|
0.00004
|
NM_024079.5(ALG8):c.337A>G (p.Met113Val)
|
rs140499974
|
0.00004
|
NM_024079.5(ALG8):c.546+7A>T
|
rs771817128
|
0.00004
|
NM_024079.5(ALG8):c.898G>A (p.Gly300Ser)
|
rs758154434
|
0.00004
|
NM_024105.4(ALG12):c.*209C>T
|
rs757403591
|
0.00004
|
NM_024105.4(ALG12):c.-74C>T
|
rs182520339
|
0.00004
|
NM_024105.4(ALG12):c.1028C>T (p.Ala343Val)
|
rs374812633
|
0.00004
|
NM_024105.4(ALG12):c.1211G>A (p.Arg404Gln)
|
rs553349150
|
0.00004
|
NM_024105.4(ALG12):c.163-5C>T
|
rs368302798
|
0.00004
|
NM_024105.4(ALG12):c.165C>T (p.Tyr55=)
|
rs563259198
|
0.00004
|
NM_024105.4(ALG12):c.479C>T (p.Ala160Val)
|
rs762826904
|
0.00004
|
NM_024105.4(ALG12):c.809G>A (p.Arg270His)
|
rs781707642
|
0.00004
|
NM_024105.4(ALG12):c.811G>A (p.Gly271Ser)
|
rs751915470
|
0.00004
|
NM_024105.4(ALG12):c.910C>T (p.Leu304Phe)
|
rs375631589
|
0.00004
|
NM_024105.4(ALG12):c.993-19G>A
|
rs185216992
|
0.00004
|
NM_024592.5(SRD5A3):c.*2120T>G
|
rs959439608
|
0.00004
|
NM_024592.5(SRD5A3):c.*2950T>C
|
rs1363381757
|
0.00004
|
NM_024592.5(SRD5A3):c.436G>A (p.Glu146Lys)
|
rs772795484
|
0.00004
|
NM_024592.5(SRD5A3):c.464A>G (p.Asn155Ser)
|
rs770085775
|
0.00004
|
NM_024740.2(ALG9):c.*4141G>C
|
rs541035545
|
0.00004
|
NM_024740.2(ALG9):c.*763T>C
|
rs886047680
|
0.00004
|
NM_024740.2(ALG9):c.1038G>A (p.Pro346=)
|
rs372262029
|
0.00004
|
NM_024740.2(ALG9):c.128C>T (p.Thr43Ile)
|
rs1377024435
|
0.00004
|
NM_024740.2(ALG9):c.246T>C (p.Asp82=)
|
rs782243361
|
0.00004
|
NM_024740.2(ALG9):c.405+8C>A
|
rs559793984
|
0.00004
|
NM_024740.2(ALG9):c.860A>G (p.Tyr287Cys)
|
rs121908023
|
0.00004
|
NM_033087.4(ALG2):c.1116A>G (p.Ala372=)
|
rs573570972
|
0.00004
|
NM_033087.4(ALG2):c.1156A>G (p.Met386Val)
|
rs772649099
|
0.00004
|
NM_033087.4(ALG2):c.1228T>C (p.Tyr410His)
|
rs376959842
|
0.00004
|
NM_033087.4(ALG2):c.176G>A (p.Cys59Tyr)
|
rs757068626
|
0.00004
|
NM_033087.4(ALG2):c.19C>T (p.Arg7Trp)
|
rs761793563
|
0.00004
|
NM_033087.4(ALG2):c.299A>G (p.Tyr100Cys)
|
rs1372670324
|
0.00004
|
NM_033087.4(ALG2):c.319G>A (p.Glu107Lys)
|
rs1156439417
|
0.00004
|
NM_033087.4(ALG2):c.388C>T (p.Arg130Trp)
|
rs780287266
|
0.00004
|
NM_033087.4(ALG2):c.502G>A (p.Gly168Ser)
|
rs925393788
|
0.00004
|
NM_033087.4(ALG2):c.657A>C (p.Leu219=)
|
rs201667181
|
0.00004
|
NM_033087.4(ALG2):c.687C>T (p.Leu229=)
|
rs762613857
|
0.00004
|
NM_052859.4(RFT1):c.*2995C>T
|
rs886058713
|
0.00004
|
NM_052859.4(RFT1):c.1018G>A (p.Gly340Ser)
|
rs568474177
|
0.00004
|
NM_052859.4(RFT1):c.1208+15A>G
|
rs1448297165
|
0.00004
|
NM_052859.4(RFT1):c.1209-16C>T
|
rs567150690
|
0.00004
|
NM_052859.4(RFT1):c.1214A>G (p.Asn405Ser)
|
rs111924005
|
0.00004
|
NM_052859.4(RFT1):c.1344C>T (p.Cys448=)
|
rs369135875
|
0.00004
|
NM_052859.4(RFT1):c.1598T>C (p.Val533Ala)
|
rs747610673
|
0.00004
|
NM_052859.4(RFT1):c.199C>T (p.Arg67Cys)
|
rs118203913
|
0.00004
|
NM_052859.4(RFT1):c.345T>C (p.Val115=)
|
rs761692538
|
0.00004
|
NM_052859.4(RFT1):c.387G>A (p.Ser129=)
|
rs914696330
|
0.00004
|
NM_052859.4(RFT1):c.412C>A (p.Pro138Thr)
|
rs1045604063
|
0.00004
|
NM_052859.4(RFT1):c.821A>G (p.Asp274Gly)
|
rs781066087
|
0.00004
|
NM_138459.5(NUS1):c.288G>A (p.Lys96=)
|
rs566608977
|
0.00004
|
NM_138459.5(NUS1):c.822T>C (p.Tyr274=)
|
rs759399174
|
0.00004
|
NM_138459.5(NUS1):c.870T>G (p.Arg290=)
|
rs529109392
|
0.00004
|
NM_153741.2(DPM3):c.127G>A (p.Ala43Thr)
|
rs778766264
|
0.00004
|
NM_178862.3(STT3B):c.314+9C>T
|
rs549989552
|
0.00004
|
NM_000303.3(PMM2):c.*1297C>T
|
rs183853029
|
0.00003
|
NM_000303.3(PMM2):c.*383C>T
|
rs886052461
|
0.00003
|
NM_000303.3(PMM2):c.*674G>A
|
rs886052465
|
0.00003
|
NM_000303.3(PMM2):c.*695C>T
|
rs767981809
|
0.00003
|
NM_000303.3(PMM2):c.*81C>T
|
rs886052458
|
0.00003
|
NM_000303.3(PMM2):c.*888A>G
|
rs886052467
|
0.00003
|
NM_000303.3(PMM2):c.*959C>G
|
rs886052469
|
0.00003
|
NM_000303.3(PMM2):c.200T>G (p.Val67Gly)
|
rs751986971
|
0.00003
|
NM_000303.3(PMM2):c.24C>G (p.Leu8=)
|
rs751757467
|
0.00003
|
NM_000303.3(PMM2):c.256-10C>T
|
rs756647792
|
0.00003
|
NM_000303.3(PMM2):c.357C>A (p.Phe119Leu)
|
rs80338701
|
0.00003
|
NM_000303.3(PMM2):c.573C>T (p.Tyr191=)
|
rs201440361
|
0.00003
|
NM_000303.3(PMM2):c.597C>T (p.Asp199=)
|
rs376412367
|
0.00003
|
NM_000303.3(PMM2):c.640-9T>G
|
rs370160676
|
0.00003
|
NM_000303.3(PMM2):c.699G>A (p.Ala233=)
|
rs375881270
|
0.00003
|
NM_000303.3(PMM2):c.712C>T (p.Arg238Cys)
|
rs142459706
|
0.00003
|
NM_001004127.3(ALG11):c.124A>G (p.Ile42Val)
|
rs201067230
|
0.00003
|
NM_001099922.3(ALG13):c.1209C>T (p.Ser403=)
|
rs773641755
|
0.00003
|
NM_001099922.3(ALG13):c.1737A>G (p.Ser579=)
|
rs889996527
|
0.00003
|
NM_001099922.3(ALG13):c.1798A>G (p.Met600Val)
|
rs189931917
|
0.00003
|
NM_001099922.3(ALG13):c.1812C>T (p.Tyr604=)
|
rs768241839
|
0.00003
|
NM_001099922.3(ALG13):c.1958G>A (p.Arg653Gln)
|
rs779911093
|
0.00003
|
NM_001099922.3(ALG13):c.2004C>T (p.His668=)
|
rs1024835814
|
0.00003
|
NM_001099922.3(ALG13):c.2037A>G (p.Pro679=)
|
rs764270660
|
0.00003
|
NM_001099922.3(ALG13):c.2401+9G>T
|
rs1036320277
|
0.00003
|
NM_001099922.3(ALG13):c.2624G>C (p.Ser875Thr)
|
rs757522953
|
0.00003
|
NM_001099922.3(ALG13):c.2686G>A (p.Gly896Ser)
|
rs972892187
|
0.00003
|
NM_001099922.3(ALG13):c.2973+10A>G
|
rs1027238133
|
0.00003
|
NM_001099922.3(ALG13):c.303C>T (p.Asn101=)
|
rs763113044
|
0.00003
|
NM_001099922.3(ALG13):c.3174A>G (p.Ser1058=)
|
rs369901028
|
0.00003
|
NM_001099922.3(ALG13):c.819A>G (p.Gln273=)
|
rs774384951
|
0.00003
|
NM_001099922.3(ALG13):c.927T>A (p.Ile309=)
|
rs1939944337
|
0.00003
|
NM_001382.4(DPAGT1):c.283-9C>T
|
rs746355462
|
0.00003
|
NM_001382.4(DPAGT1):c.324G>C (p.Met108Ile)
|
rs376039938
|
0.00003
|
NM_001382.4(DPAGT1):c.496+17C>T
|
rs749725470
|
0.00003
|
NM_001382.4(DPAGT1):c.644-15T>A
|
rs749199504
|
0.00003
|
NM_001382.4(DPAGT1):c.918-8C>T
|
rs531346717
|
0.00003
|
NM_002435.3(MPI):c.*44T>G
|
rs774547352
|
0.00003
|
NM_002435.3(MPI):c.1193T>C (p.Ile398Thr)
|
rs369326210
|
0.00003
|
NM_002435.3(MPI):c.121G>A (p.Ala41Thr)
|
rs779821212
|
0.00003
|
NM_002435.3(MPI):c.144+12G>T
|
rs369867765
|
0.00003
|
NM_002435.3(MPI):c.162C>T (p.His54=)
|
rs763885017
|
0.00003
|
NM_002435.3(MPI):c.305C>T (p.Ser102Leu)
|
rs104894494
|
0.00003
|
NM_002435.3(MPI):c.69C>T (p.Ser23=)
|
rs140124850
|
0.00003
|
NM_002435.3(MPI):c.780T>C (p.Leu260=)
|
rs371012451
|
0.00003
|
NM_002435.3(MPI):c.884G>A (p.Arg295His)
|
rs28928906
|
0.00003
|
NM_002633.3(PGM1):c.1144+10A>G
|
rs886046482
|
0.00003
|
NM_002633.3(PGM1):c.1195C>G (p.Leu399Val)
|
rs200065327
|
0.00003
|
NM_002633.3(PGM1):c.12C>A (p.Ile4=)
|
rs775862619
|
0.00003
|
NM_002633.3(PGM1):c.138C>A (p.Thr46=)
|
rs767357022
|
0.00003
|
NM_002633.3(PGM1):c.264C>T (p.Ile88=)
|
rs200946909
|
0.00003
|
NM_002633.3(PGM1):c.318C>G (p.Ile106Met)
|
rs781551165
|
0.00003
|
NM_002633.3(PGM1):c.64C>T (p.Leu22=)
|
rs1395771160
|
0.00003
|
NM_003859.3(DPM1):c.*191A>G
|
rs771510447
|
0.00003
|
NM_003859.3(DPM1):c.161+17C>T
|
rs777976660
|
0.00003
|
NM_003859.3(DPM1):c.171C>T (p.Asn57=)
|
rs755192460
|
0.00003
|
NM_003859.3(DPM1):c.1A>C (p.Met1Leu)
|
rs139624629
|
0.00003
|
NM_003859.3(DPM1):c.275G>A (p.Arg92Gln)
|
rs1324570980
|
0.00003
|
NM_003859.3(DPM1):c.57G>T (p.Val19=)
|
rs1311416348
|
0.00003
|
NM_003859.3(DPM1):c.9C>G (p.Ser3=)
|
rs150509150
|
0.00003
|
NM_003863.4(DPM2):c.146A>G (p.Tyr49Cys)
|
rs779093563
|
0.00003
|
NM_004870.4(MPDU1):c.*255A>G
|
rs878936939
|
0.00003
|
NM_005216.5(DDOST):c.1136G>A (p.Arg379Gln)
|
rs74526704
|
0.00003
|
NM_005216.5(DDOST):c.399C>T (p.Asp133=)
|
rs199859745
|
0.00003
|
NM_005216.5(DDOST):c.777G>A (p.Ala259=)
|
rs757033527
|
0.00003
|
NM_005787.5(ALG3):c.-31G>A
|
rs758955754
|
0.00003
|
NM_005787.6(ALG3):c.*65C>T
|
rs776636517
|
0.00003
|
NM_005787.6(ALG3):c.1272G>A (p.Pro424=)
|
rs372724502
|
0.00003
|
NM_005787.6(ALG3):c.1280T>A (p.Phe427Tyr)
|
rs770095687
|
0.00003
|
NM_005787.6(ALG3):c.296+7G>A
|
rs375026036
|
0.00003
|
NM_005787.6(ALG3):c.444+1G>T
|
rs748878963
|
0.00003
|
NM_005787.6(ALG3):c.51A>G (p.Ala17=)
|
rs763727038
|
0.00003
|
NM_012463.4(ATP6V0A2):c.1014G>A (p.Leu338=)
|
rs917452697
|
0.00003
|
NM_012463.4(ATP6V0A2):c.1018C>T (p.Arg340Trp)
|
rs781305219
|
0.00003
|
NM_012463.4(ATP6V0A2):c.1038G>A (p.Ser346=)
|
rs147411055
|
0.00003
|
NM_012463.4(ATP6V0A2):c.1096C>T (p.Pro366Ser)
|
rs372416067
|
0.00003
|
NM_012463.4(ATP6V0A2):c.1485C>T (p.Pro495=)
|
rs759980365
|
0.00003
|
NM_012463.4(ATP6V0A2):c.1515-12T>G
|
rs201512900
|
0.00003
|
NM_012463.4(ATP6V0A2):c.1971A>G (p.Ala657=)
|
rs149123235
|
0.00003
|
NM_012463.4(ATP6V0A2):c.2166G>A (p.Ala722=)
|
rs753589480
|
0.00003
|
NM_012463.4(ATP6V0A2):c.234C>T (p.Pro78=)
|
rs375372808
|
0.00003
|
NM_012463.4(ATP6V0A2):c.2554G>A (p.Asp852Asn)
|
rs774594773
|
0.00003
|
NM_012463.4(ATP6V0A2):c.2556C>T (p.Asp852=)
|
rs762290613
|
0.00003
|
NM_012463.4(ATP6V0A2):c.263C>T (p.Ala88Val)
|
rs199633614
|
0.00003
|
NM_012463.4(ATP6V0A2):c.440C>T (p.Pro147Leu)
|
rs747354658
|
0.00003
|
NM_012463.4(ATP6V0A2):c.521+14C>T
|
rs747194853
|
0.00003
|
NM_012463.4(ATP6V0A2):c.621G>A (p.Leu207=)
|
rs374338507
|
0.00003
|
NM_012463.4(ATP6V0A2):c.652G>A (p.Glu218Lys)
|
rs759593402
|
0.00003
|
NM_012463.4(ATP6V0A2):c.793G>A (p.Gly265Arg)
|
rs774118423
|
0.00003
|
NM_012463.4(ATP6V0A2):c.868A>G (p.Lys290Glu)
|
rs772170459
|
0.00003
|
NM_012463.4(ATP6V0A2):c.993C>T (p.Pro331=)
|
rs367873118
|
0.00003
|
NM_013339.4(ALG6):c.*1137G>A
|
rs886046478
|
0.00003
|
NM_013339.4(ALG6):c.1059-9C>T
|
rs375216174
|
0.00003
|
NM_013339.4(ALG6):c.1249del (p.Gln417fs)
|
rs771069984
|
0.00003
|
NM_013339.4(ALG6):c.1308C>T (p.Ser436=)
|
rs1271255207
|
0.00003
|
NM_013339.4(ALG6):c.430-3C>T
|
rs549094888
|
0.00003
|
NM_013339.4(ALG6):c.52C>T (p.Arg18Ter)
|
rs755933716
|
0.00003
|
NM_013339.4(ALG6):c.669C>T (p.Leu223=)
|
rs377089305
|
0.00003
|
NM_013339.4(ALG6):c.881G>A (p.Arg294His)
|
rs772248256
|
0.00003
|
NM_013339.4(ALG6):c.902+1G>A
|
rs1036516188
|
0.00003
|
NM_013339.4(ALG6):c.942A>G (p.Ile314Met)
|
rs774489558
|
0.00003
|
NM_013339.4(ALG6):c.998C>T (p.Ala333Val)
|
rs121908443
|
0.00003
|
NM_014908.4(DOLK):c.*20G>A
|
rs368635795
|
0.00003
|
NM_014908.4(DOLK):c.1000A>T (p.Thr334Ser)
|
rs762835635
|
0.00003
|
NM_014908.4(DOLK):c.1005C>T (p.Ile335=)
|
rs370084249
|
0.00003
|
NM_014908.4(DOLK):c.1086C>T (p.Ala362=)
|
rs751762161
|
0.00003
|
NM_014908.4(DOLK):c.1130G>A (p.Arg377His)
|
rs374317240
|
0.00003
|
NM_014908.4(DOLK):c.1221A>G (p.Thr407=)
|
rs973710719
|
0.00003
|
NM_014908.4(DOLK):c.1262T>C (p.Leu421Pro)
|
rs145125254
|
0.00003
|
NM_014908.4(DOLK):c.1290T>G (p.Gly430=)
|
rs755691113
|
0.00003
|
NM_014908.4(DOLK):c.1333C>A (p.Leu445Met)
|
rs866088033
|
0.00003
|
NM_014908.4(DOLK):c.1527C>T (p.Ser509=)
|
rs746460508
|
0.00003
|
NM_014908.4(DOLK):c.288G>C (p.Lys96Asn)
|
rs771259120
|
0.00003
|
NM_014908.4(DOLK):c.380T>C (p.Val127Ala)
|
rs201629680
|
0.00003
|
NM_014908.4(DOLK):c.412A>G (p.Thr138Ala)
|
rs933514904
|
0.00003
|
NM_014908.4(DOLK):c.819C>T (p.Pro273=)
|
rs745508730
|
0.00003
|
NM_014908.4(DOLK):c.924C>T (p.Ala308=)
|
rs531714647
|
0.00003
|
NM_015354.3(NUP188):c.-6G>A
|
rs201511915
|
0.00003
|
NM_019109.4(ALG1):c.208+12A>G
|
rs777062447
|
0.00003
|
NM_019109.5(ALG1):c.1050C>T (p.Ala350=)
|
rs777066439
|
0.00003
|
NM_019109.5(ALG1):c.1073-20C>T
|
rs779627691
|
0.00003
|
NM_019109.5(ALG1):c.1263+18C>T
|
rs570783073
|
0.00003
|
NM_019109.5(ALG1):c.1263+20C>T
|
rs1338515291
|
0.00003
|
NM_019109.5(ALG1):c.1275A>C (p.Ser425=)
|
rs746944961
|
0.00003
|
NM_019109.5(ALG1):c.286+10C>T
|
rs371480769
|
0.00003
|
NM_019109.5(ALG1):c.29C>T (p.Ala10Val)
|
rs767455250
|
0.00003
|
NM_019109.5(ALG1):c.539+15A>G
|
rs777450873
|
0.00003
|
NM_019109.5(ALG1):c.560G>A (p.Arg187His)
|
rs377600706
|
0.00003
|
NM_019109.5(ALG1):c.608T>C (p.Leu203Pro)
|
rs777949225
|
0.00003
|
NM_019109.5(ALG1):c.629+11C>T
|
rs776701190
|
0.00003
|
NM_019109.5(ALG1):c.648C>T (p.Asp216=)
|
rs141455029
|
0.00003
|
NM_019109.5(ALG1):c.726T>C (p.Ser242=)
|
rs780479533
|
0.00003
|
NM_019109.5(ALG1):c.821G>A (p.Arg274His)
|
rs529013891
|
0.00003
|
NM_019109.5(ALG1):c.826C>T (p.Arg276Trp)
|
rs151173406
|
0.00003
|
NM_019109.5(ALG1):c.863A>G (p.Glu288Gly)
|
rs776908571
|
0.00003
|
NM_019109.5(ALG1):c.880A>C (p.Ile294Leu)
|
rs767003110
|
0.00003
|
NM_019109.5(ALG1):c.933C>A (p.Asn311Lys)
|
rs776299417
|
0.00003
|
NM_019109.5(ALG1):c.961+19G>A
|
rs768688738
|
0.00003
|
NM_021645.6(UTP14C):c.192T>C (p.Ser64=)
|
rs137988059
|
0.00003
|
NM_024079.5(ALG8):c.1117T>C (p.Ser373Pro)
|
rs558379335
|
0.00003
|
NM_024079.5(ALG8):c.369-15A>G
|
rs374645837
|
0.00003
|
NM_024079.5(ALG8):c.535C>T (p.Arg179Ter)
|
rs762811727
|
0.00003
|
NM_024079.5(ALG8):c.588A>C (p.Leu196=)
|
rs562915665
|
0.00003
|
NM_024079.5(ALG8):c.673+4A>G
|
rs1470636347
|
0.00003
|
NM_024105.4(ALG12):c.1144C>T (p.Leu382=)
|
rs745820643
|
0.00003
|
NM_024105.4(ALG12):c.1163-20G>C
|
rs371655793
|
0.00003
|
NM_024105.4(ALG12):c.1164C>T (p.Asp388=)
|
rs557130467
|
0.00003
|
NM_024105.4(ALG12):c.1272A>G (p.Thr424=)
|
rs368420135
|
0.00003
|
NM_024105.4(ALG12):c.1427C>G (p.Thr476Arg)
|
rs142815771
|
0.00003
|
NM_024105.4(ALG12):c.1456C>T (p.Arg486Trp)
|
rs745477655
|
0.00003
|
NM_024105.4(ALG12):c.1461G>A (p.Pro487=)
|
rs541941913
|
0.00003
|
NM_024105.4(ALG12):c.183C>T (p.Pro61=)
|
rs749156618
|
0.00003
|
NM_024105.4(ALG12):c.29G>A (p.Arg10Gln)
|
rs778413165
|
0.00003
|
NM_024105.4(ALG12):c.401C>T (p.Thr134Met)
|
rs201405631
|
0.00003
|
NM_024105.4(ALG12):c.469+17C>T
|
rs752634210
|
0.00003
|
NM_024105.4(ALG12):c.470-15C>T
|
rs367584975
|
0.00003
|
NM_024105.4(ALG12):c.496C>T (p.Arg166Trp)
|
rs375139092
|
0.00003
|
NM_024105.4(ALG12):c.502G>A (p.Glu168Lys)
|
rs754565538
|
0.00003
|
NM_024105.4(ALG12):c.605G>A (p.Arg202Gln)
|
rs746493927
|
0.00003
|
NM_024105.4(ALG12):c.671C>T (p.Thr224Met)
|
rs755892540
|
0.00003
|
NM_024105.4(ALG12):c.837C>T (p.Ile279=)
|
rs200095556
|
0.00003
|
NM_024105.4(ALG12):c.842T>G (p.Leu281Arg)
|
rs767435558
|
0.00003
|
NM_024105.4(ALG12):c.869C>T (p.Ala290Val)
|
rs201508940
|
0.00003
|
NM_024105.4(ALG12):c.889G>A (p.Gly297Ser)
|
rs199937362
|
0.00003
|
NM_024105.4(ALG12):c.912C>T (p.Leu304=)
|
rs1226459157
|
0.00003
|
NM_024105.4(ALG12):c.931C>T (p.Arg311Cys)
|
rs746215829
|
0.00003
|
NM_024592.5(SRD5A3):c.*2560A>G
|
rs886059483
|
0.00003
|
NM_024592.5(SRD5A3):c.*2804C>T
|
rs886059484
|
0.00003
|
NM_024592.5(SRD5A3):c.*594C>T
|
rs1445697837
|
0.00003
|
NM_024592.5(SRD5A3):c.140A>G (p.Gln47Arg)
|
rs764835755
|
0.00003
|
NM_024592.5(SRD5A3):c.262G>A (p.Gly88Ser)
|
rs374807694
|
0.00003
|
NM_024592.5(SRD5A3):c.423A>G (p.Leu141=)
|
rs143299030
|
0.00003
|
NM_024592.5(SRD5A3):c.802G>A (p.Val268Ile)
|
rs549620113
|
0.00003
|
NM_024740.2(ALG9):c.*1687A>T
|
rs367569393
|
0.00003
|
NM_024740.2(ALG9):c.*2339T>G
|
rs886047673
|
0.00003
|
NM_024740.2(ALG9):c.*306G>A
|
rs886047683
|
0.00003
|
NM_024740.2(ALG9):c.*773A>G
|
rs886047679
|
0.00003
|
NM_024740.2(ALG9):c.1660C>T (p.Arg554Trp)
|
rs782084496
|
0.00003
|
NM_024740.2(ALG9):c.477-15T>C
|
rs782507133
|
0.00003
|
NM_024740.2(ALG9):c.504C>T (p.His168=)
|
rs782753981
|
0.00003
|
NM_033087.4(ALG2):c.10G>A (p.Glu4Lys)
|
rs1329170357
|
0.00003
|
NM_033087.4(ALG2):c.159C>T (p.His53=)
|
rs527683080
|
0.00003
|
NM_033087.4(ALG2):c.1A>G (p.Met1Val)
|
rs750172644
|
0.00003
|
NM_033087.4(ALG2):c.233G>A (p.Gly78Asp)
|
rs934545988
|
0.00003
|
NM_033087.4(ALG2):c.239G>A (p.Gly80Asp)
|
rs752081241
|
0.00003
|
NM_033087.4(ALG2):c.449T>C (p.Phe150Ser)
|
rs377047079
|
0.00003
|
NM_033087.4(ALG2):c.495C>T (p.Tyr165=)
|
rs962112292
|
0.00003
|
NM_033087.4(ALG2):c.783G>A (p.Arg261=)
|
rs765386769
|
0.00003
|
NM_052859.4(RFT1):c.*2214C>T
|
rs886058719
|
0.00003
|
NM_052859.4(RFT1):c.*2215G>A
|
rs886058718
|
0.00003
|
NM_052859.4(RFT1):c.*2996G>A
|
rs1223140817
|
0.00003
|
NM_052859.4(RFT1):c.*84A>T
|
rs553703050
|
0.00003
|
NM_052859.4(RFT1):c.-1T>C
|
rs886058729
|
0.00003
|
NM_052859.4(RFT1):c.1071C>T (p.Ile357=)
|
rs367909153
|
0.00003
|
NM_052859.4(RFT1):c.1075G>A (p.Gly359Arg)
|
rs201876415
|
0.00003
|
NM_052859.4(RFT1):c.117G>A (p.Leu39=)
|
rs368675325
|
0.00003
|
NM_052859.4(RFT1):c.121A>G (p.Lys41Glu)
|
rs886058728
|
0.00003
|
NM_052859.4(RFT1):c.1285G>A (p.Val429Met)
|
rs145175244
|
0.00003
|
NM_052859.4(RFT1):c.1324C>T (p.Arg442Trp)
|
rs146610276
|
0.00003
|
NM_052859.4(RFT1):c.200G>A (p.Arg67His)
|
rs753527390
|
0.00003
|
NM_052859.4(RFT1):c.23G>A (p.Gly8Asp)
|
rs151322409
|
0.00003
|
NM_052859.4(RFT1):c.264A>G (p.Leu88=)
|
rs751934184
|
0.00003
|
NM_052859.4(RFT1):c.267-9C>G
|
rs1396877928
|
0.00003
|
NM_052859.4(RFT1):c.590A>G (p.Tyr197Cys)
|
rs781527440
|
0.00003
|
NM_052859.4(RFT1):c.778G>A (p.Glu260Lys)
|
rs766766673
|
0.00003
|
NM_052859.4(RFT1):c.781C>G (p.Arg261Gly)
|
rs766042717
|
0.00003
|
NM_138459.5(NUS1):c.445A>G (p.Met149Val)
|
rs1276753307
|
0.00003
|
NM_138459.5(NUS1):c.692-19G>A
|
rs754104717
|
0.00003
|
NM_138459.5(NUS1):c.791+16_791+17insTTTGTTTAGATTCA
|
rs1201766536
|
0.00003
|
NM_138459.5(NUS1):c.791+19_791+20insAT
|
rs1239155154
|
0.00003
|
NM_178862.3(STT3B):c.1335A>G (p.Leu445=)
|
rs775157879
|
0.00003
|
NM_178862.3(STT3B):c.777+11A>G
|
rs537758327
|
0.00003
|
NM_000303.3(PMM2):c.*1103C>T
|
rs886052470
|
0.00002
|
NM_000303.3(PMM2):c.*1138T>G
|
rs999681403
|
0.00002
|
NM_000303.3(PMM2):c.*972C>T
|
rs746081212
|
0.00002
|
NM_000303.3(PMM2):c.104T>A (p.Leu35Ter)
|
rs1555448899
|
0.00002
|
NM_000303.3(PMM2):c.154G>C (p.Val52Leu)
|
rs148608841
|
0.00002
|
NM_000303.3(PMM2):c.15C>A (p.Gly5=)
|
rs1277297216
|
0.00002
|
NM_000303.3(PMM2):c.178+1G>A
|
rs935962174
|
0.00002
|
NM_000303.3(PMM2):c.255+1G>A
|
rs1060499598
|
0.00002
|
NM_000303.3(PMM2):c.367C>T (p.Arg123Ter)
|
rs191295403
|
0.00002
|
NM_000303.3(PMM2):c.447+5G>A
|
rs367852554
|
0.00002
|
NM_000303.3(PMM2):c.484C>T (p.Arg162Trp)
|
rs104894526
|
0.00002
|
NM_000303.3(PMM2):c.524-16C>T
|
rs748427371
|
0.00002
|
NM_000303.3(PMM2):c.548T>C (p.Phe183Ser)
|
rs780581250
|
0.00002
|
NM_000303.3(PMM2):c.580C>T (p.Arg194Ter)
|
rs199562225
|
0.00002
|
NM_000303.3(PMM2):c.680T>C (p.Met227Thr)
|
rs772410793
|
0.00002
|
NM_000303.3(PMM2):c.69A>G (p.Lys23=)
|
rs1189907173
|
0.00002
|
NM_000303.3(PMM2):c.711G>A (p.Thr237=)
|
rs753794337
|
0.00002
|
NM_001004127.3(ALG11):c.522T>G (p.Asp174Glu)
|
rs748117240
|
0.00002
|
NM_001099922.3(ALG13):c.1005+15G>A
|
rs751530957
|
0.00002
|
NM_001099922.3(ALG13):c.1005+4A>G
|
rs758242204
|
0.00002
|
NM_001099922.3(ALG13):c.1210G>A (p.Glu404Lys)
|
rs1272022379
|
0.00002
|
NM_001099922.3(ALG13):c.1377C>T (p.Ala459=)
|
rs368020541
|
0.00002
|
NM_001099922.3(ALG13):c.1397G>A (p.Arg466His)
|
rs371858098
|
0.00002
|
NM_001099922.3(ALG13):c.1476G>C (p.Gln492His)
|
rs760560180
|
0.00002
|
NM_001099922.3(ALG13):c.148C>T (p.Pro50Ser)
|
rs1461394942
|
0.00002
|
NM_001099922.3(ALG13):c.1596G>A (p.Ala532=)
|
rs891310320
|
0.00002
|
NM_001099922.3(ALG13):c.1664A>G (p.Asn555Ser)
|
rs1198802633
|
0.00002
|
NM_001099922.3(ALG13):c.1670T>C (p.Met557Thr)
|
rs1255485671
|
0.00002
|
NM_001099922.3(ALG13):c.1804A>G (p.Met602Val)
|
rs370151362
|
0.00002
|
NM_001099922.3(ALG13):c.1822G>C (p.Asp608His)
|
rs374870130
|
0.00002
|
NM_001099922.3(ALG13):c.1853G>C (p.Ser618Thr)
|
rs1194966893
|
0.00002
|
NM_001099922.3(ALG13):c.1977-12C>T
|
rs374618611
|
0.00002
|
NM_001099922.3(ALG13):c.2012C>T (p.Pro671Leu)
|
rs770150113
|
0.00002
|
NM_001099922.3(ALG13):c.2078C>T (p.Ser693Phe)
|
rs919912146
|
0.00002
|
NM_001099922.3(ALG13):c.207A>C (p.Glu69Asp)
|
rs745826764
|
0.00002
|
NM_001099922.3(ALG13):c.2089C>T (p.Arg697Cys)
|
rs1376010208
|
0.00002
|
NM_001099922.3(ALG13):c.2112C>T (p.Arg704=)
|
rs775927215
|
0.00002
|
NM_001099922.3(ALG13):c.2194A>G (p.Ile732Val)
|
rs1278669534
|
0.00002
|
NM_001099922.3(ALG13):c.2248-11C>T
|
rs377064873
|
0.00002
|
NM_001099922.3(ALG13):c.2278G>T (p.Ala760Ser)
|
rs773286994
|
0.00002
|
NM_001099922.3(ALG13):c.2324A>G (p.Lys775Arg)
|
rs766946325
|
0.00002
|
NM_001099922.3(ALG13):c.2328G>C (p.Gln776His)
|
rs750005344
|
0.00002
|
NM_001099922.3(ALG13):c.2369G>A (p.Gly790Glu)
|
rs745411126
|
0.00002
|
NM_001099922.3(ALG13):c.2529+3A>G
|
rs1943111596
|
0.00002
|
NM_001099922.3(ALG13):c.2726C>A (p.Ser909Tyr)
|
rs377097716
|
0.00002
|
NM_001099922.3(ALG13):c.2754A>G (p.Leu918=)
|
rs1057523456
|
0.00002
|
NM_001099922.3(ALG13):c.2839C>T (p.Leu947Phe)
|
rs758632567
|
0.00002
|
NM_001099922.3(ALG13):c.2863T>C (p.Leu955=)
|
rs1200753439
|
0.00002
|
NM_001099922.3(ALG13):c.2973+20T>A
|
rs368694871
|
0.00002
|
NM_001099922.3(ALG13):c.3017A>G (p.Gln1006Arg)
|
rs753692221
|
0.00002
|
NM_001099922.3(ALG13):c.3058A>G (p.Thr1020Ala)
|
rs3027818
|
0.00002
|
NM_001099922.3(ALG13):c.3271G>C (p.Asp1091His)
|
rs1264248744
|
0.00002
|
NM_001099922.3(ALG13):c.3404A>G (p.Gln1135Arg)
|
rs771207661
|
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.441A>G (p.Gln147=)
|
rs1391605283
|
0.00002
|
NM_001099922.3(ALG13):c.532A>G (p.Thr178Ala)
|
rs754377859
|
0.00002
|
NM_001099922.3(ALG13):c.541A>G (p.Thr181Ala)
|
rs774646647
|
0.00002
|
NM_001099922.3(ALG13):c.54G>A (p.Ala18=)
|
rs1406539581
|
0.00002
|
NM_001099922.3(ALG13):c.588T>G (p.Pro196=)
|
rs747214832
|
0.00002
|
NM_001099922.3(ALG13):c.680G>A (p.Gly227Asp)
|
rs760283484
|
0.00002
|
NM_001099922.3(ALG13):c.696T>C (p.Phe232=)
|
rs766736046
|
0.00002
|
NM_001099922.3(ALG13):c.6G>A (p.Lys2=)
|
rs1380956380
|
0.00002
|
NM_001099922.3(ALG13):c.804T>C (p.Tyr268=)
|
rs1375106247
|
0.00002
|
NM_001099922.3(ALG13):c.834+3A>G
|
rs370066652
|
0.00002
|
NM_001099922.3(ALG13):c.885+14T>C
|
rs746055178
|
0.00002
|
NM_001099922.3(ALG13):c.886-19A>G
|
rs773121084
|
0.00002
|
NM_001099922.3(ALG13):c.889A>G (p.Ser297Gly)
|
rs372176416
|
0.00002
|
NM_001099922.3(ALG13):c.933-4A>G
|
rs1389043493
|
0.00002
|
NM_001099922.3(ALG13):c.995A>G (p.Tyr332Cys)
|
rs370098098
|
0.00002
|
NM_001382.4(DPAGT1):c.-39C>T
|
rs749047996
|
0.00002
|
NM_001382.4(DPAGT1):c.1193G>A (p.Arg398Gln)
|
rs747825322
|
0.00002
|
NM_001382.4(DPAGT1):c.14C>T (p.Ser5Leu)
|
rs764519878
|
0.00002
|
NM_001382.4(DPAGT1):c.257A>T (p.Gln86Leu)
|
rs751806317
|
0.00002
|
NM_001382.4(DPAGT1):c.270C>T (p.Phe90=)
|
rs780625734
|
0.00002
|
NM_001382.4(DPAGT1):c.488T>C (p.Leu163Pro)
|
rs772211450
|
0.00002
|
NM_001382.4(DPAGT1):c.497-5C>T
|
rs556782038
|
0.00002
|
NM_001382.4(DPAGT1):c.509A>G (p.Tyr170Cys)
|
rs28934876
|
0.00002
|
NM_001382.4(DPAGT1):c.790G>A (p.Val264Met)
|
rs745872044
|
0.00002
|
NM_001382.4(DPAGT1):c.917+6C>T
|
rs539220035
|
0.00002
|
NM_001382.4(DPAGT1):c.989G>A (p.Gly330Asp)
|
rs780497256
|
0.00002
|
NM_002435.3(MPI):c.*109T>C
|
rs905180827
|
0.00002
|
NM_002435.3(MPI):c.1064C>T (p.Ser355Phe)
|
rs763169640
|
0.00002
|
NM_002435.3(MPI):c.1233G>A (p.Pro411=)
|
rs746867428
|
0.00002
|
NM_002435.3(MPI):c.1271A>G (p.Ter424=)
|
rs896962413
|
0.00002
|
NM_002435.3(MPI):c.17-7C>T
|
rs539654088
|
0.00002
|
NM_002435.3(MPI):c.264del (p.Asp88fs)
|
rs868127074
|
0.00002
|
NM_002435.3(MPI):c.345+20G>A
|
rs772479528
|
0.00002
|
NM_002435.3(MPI):c.345+26G>A
|
rs144839533
|
0.00002
|
NM_002435.3(MPI):c.487+2del
|
rs1057516550
|
0.00002
|
NM_002435.3(MPI):c.639C>T (p.Leu213=)
|
rs763155512
|
0.00002
|
NM_002435.3(MPI):c.739G>A (p.Gly247Ser)
|
rs557366025
|
0.00002
|
NM_002435.3(MPI):c.90G>A (p.Leu30=)
|
rs760006403
|
0.00002
|
NM_002633.3(PGM1):c.1027C>T (p.Arg343Trp)
|
rs577589562
|
0.00002
|
NM_002633.3(PGM1):c.1104G>A (p.Ala368=)
|
rs776558188
|
0.00002
|
NM_002633.3(PGM1):c.1170T>C (p.Asp390=)
|
rs779705334
|
0.00002
|
NM_002633.3(PGM1):c.1311C>T (p.Gly437=)
|
rs774957793
|
0.00002
|
NM_002633.3(PGM1):c.1543C>T (p.Arg515Trp)
|
rs775651976
|
0.00002
|
NM_002633.3(PGM1):c.254G>A (p.Arg85His)
|
rs200225686
|
0.00002
|
NM_002633.3(PGM1):c.602G>A (p.Ser201Asn)
|
rs139241922
|
0.00002
|
NM_003859.3(DPM1):c.109C>A (p.Arg37Ser)
|
rs369939483
|
0.00002
|
NM_003859.3(DPM1):c.296-10T>C
|
rs765027931
|
0.00002
|
NM_003859.3(DPM1):c.455G>T (p.Gly152Val)
|
rs587777116
|
0.00002
|
NM_003859.3(DPM1):c.494+2T>C
|
rs1478040715
|
0.00002
|
NM_003859.3(DPM1):c.494+8C>T
|
rs367586095
|
0.00002
|
NM_003859.3(DPM1):c.622G>A (p.Val208Ile)
|
rs938379512
|
0.00002
|
NM_003859.3(DPM1):c.726A>G (p.Gly242=)
|
rs772092645
|
0.00002
|
NM_003863.4(DPM2):c.3+6A>G
|
rs776375979
|
0.00002
|
NM_004341.5(CAD):c.5365C>T (p.Arg1789Ter)
|
rs62130681
|
0.00002
|
NM_004341.5(CAD):c.5488A>G (p.Met1830Val)
|
rs747817554
|
0.00002
|
NM_004870.4(MPDU1):c.121C>G (p.Leu41Val)
|
rs199498675
|
0.00002
|
NM_004870.4(MPDU1):c.619-2A>G
|
rs368123972
|
0.00002
|
NM_004870.4(MPDU1):c.652G>T (p.Val218Leu)
|
rs142953652
|
0.00002
|
NM_004870.4(MPDU1):c.672C>T (p.Asn224=)
|
rs535356783
|
0.00002
|
NM_005216.5(DDOST):c.109C>T (p.Leu37Phe)
|
rs150936849
|
0.00002
|
NM_005216.5(DDOST):c.1305G>A (p.Lys435=)
|
rs370226725
|
0.00002
|
NM_005216.5(DDOST):c.619T>G (p.Phe207Val)
|
rs145758022
|
0.00002
|
NM_005787.6(ALG3):c.1061G>A (p.Arg354His)
|
rs546890576
|
0.00002
|
NM_005787.6(ALG3):c.1107C>T (p.Pro369=)
|
rs753913644
|
0.00002
|
NM_005787.6(ALG3):c.606-10C>T
|
rs372141050
|
0.00002
|
NM_012463.4(ATP6V0A2):c.1129G>A (p.Glu377Lys)
|
rs370299179
|
0.00002
|
NM_012463.4(ATP6V0A2):c.2028T>G (p.Asn676Lys)
|
rs763022700
|
0.00002
|
NM_012463.4(ATP6V0A2):c.2043C>T (p.Phe681=)
|
rs202084330
|
0.00002
|
NM_012463.4(ATP6V0A2):c.2072T>C (p.Ile691Thr)
|
rs144946016
|
0.00002
|
NM_012463.4(ATP6V0A2):c.2244C>A (p.Ser748=)
|
rs759226841
|
0.00002
|
NM_012463.4(ATP6V0A2):c.2250C>T (p.Thr750=)
|
rs759193879
|
0.00002
|
NM_012463.4(ATP6V0A2):c.2274G>A (p.Ala758=)
|
rs1308437998
|
0.00002
|
NM_012463.4(ATP6V0A2):c.2294A>G (p.Gln765Arg)
|
rs754014350
|
0.00002
|
NM_012463.4(ATP6V0A2):c.2320C>T (p.Leu774=)
|
rs1337898685
|
0.00002
|
NM_012463.4(ATP6V0A2):c.2339G>A (p.Arg780His)
|
rs774276857
|
0.00002
|
NM_012463.4(ATP6V0A2):c.2376G>A (p.Pro792=)
|
rs571286312
|
0.00002
|
NM_012463.4(ATP6V0A2):c.435T>G (p.Phe145Leu)
|
rs772179448
|
0.00002
|
NM_012463.4(ATP6V0A2):c.521+17G>A
|
rs192339944
|
0.00002
|
NM_012463.4(ATP6V0A2):c.877G>A (p.Glu293Lys)
|
rs368924297
|
0.00002
|
NM_013339.4(ALG6):c.1056A>G (p.Ser352=)
|
rs371100177
|
0.00002
|
NM_013339.4(ALG6):c.1200T>C (p.Ala400=)
|
rs780988843
|
0.00002
|
NM_013339.4(ALG6):c.1315A>G (p.Ile439Val)
|
rs1259683238
|
0.00002
|
NM_013339.4(ALG6):c.1326+20A>G
|
rs1382330745
|
0.00002
|
NM_013339.4(ALG6):c.1387_1388del (p.Pro463fs)
|
rs774242915
|
0.00002
|
NM_013339.4(ALG6):c.168-17C>G
|
rs536808870
|
0.00002
|
NM_013339.4(ALG6):c.257+11C>G
|
rs774093513
|
0.00002
|
NM_013339.4(ALG6):c.257+2dup
|
rs745426479
|
0.00002
|
NM_013339.4(ALG6):c.337C>T (p.Arg113Cys)
|
rs754672490
|
0.00002
|
NM_013339.4(ALG6):c.347-13C>G
|
rs981893296
|
0.00002
|
NM_013339.4(ALG6):c.495-16C>A
|
rs371088118
|
0.00002
|
NM_013339.4(ALG6):c.53G>A (p.Arg18Gln)
|
rs1287725303
|
0.00002
|
NM_013339.4(ALG6):c.54A>G (p.Arg18=)
|
rs373800951
|
0.00002
|
NM_013339.4(ALG6):c.681-5T>C
|
rs778405436
|
0.00002
|
NM_013339.4(ALG6):c.727G>A (p.Val243Ile)
|
rs367674567
|
0.00002
|
NM_013339.4(ALG6):c.82+19T>C
|
rs376116153
|
0.00002
|
NM_013339.4(ALG6):c.839G>A (p.Cys280Tyr)
|
rs756608021
|
0.00002
|
NM_013339.4(ALG6):c.902+19G>A
|
rs1057522483
|
0.00002
|
NM_013339.4(ALG6):c.921G>A (p.Leu307=)
|
rs572008178
|
0.00002
|
NM_013339.4(ALG6):c.95C>T (p.Pro32Leu)
|
rs770413804
|
0.00002
|
NM_014908.4(DOLK):c.-22G>A
|
rs754288997
|
0.00002
|
NM_014908.4(DOLK):c.1006G>A (p.Ala336Thr)
|
rs769241947
|
0.00002
|
NM_014908.4(DOLK):c.1087G>A (p.Ala363Thr)
|
rs1588262062
|
0.00002
|
NM_014908.4(DOLK):c.1201_1202del (p.Ser401fs)
|
rs919111760
|
0.00002
|
NM_014908.4(DOLK):c.1315G>A (p.Val439Ile)
|
rs372057636
|
0.00002
|
NM_014908.4(DOLK):c.1326C>T (p.Ala442=)
|
rs762899278
|
0.00002
|
NM_014908.4(DOLK):c.1491G>A (p.Val497=)
|
rs749118990
|
0.00002
|
NM_014908.4(DOLK):c.164A>G (p.Tyr55Cys)
|
rs41305507
|
0.00002
|
NM_014908.4(DOLK):c.385G>T (p.Ala129Ser)
|
rs761013512
|
0.00002
|
NM_014908.4(DOLK):c.429C>G (p.Ile143Met)
|
rs1261719011
|
0.00002
|
NM_014908.4(DOLK):c.572C>A (p.Pro191His)
|
rs767965852
|
0.00002
|
NM_014908.4(DOLK):c.589G>A (p.Val197Ile)
|
rs373587710
|
0.00002
|
NM_014908.4(DOLK):c.885C>T (p.Asp295=)
|
rs762558659
|
0.00002
|
NM_014908.4(DOLK):c.8G>A (p.Arg3Gln)
|
rs373115419
|
0.00002
|
NM_019109.4(ALG1):c.196C>T (p.Leu66=)
|
rs753405851
|
0.00002
|
NM_019109.5(ALG1):c.1001A>G (p.His334Arg)
|
rs756058300
|
0.00002
|
NM_019109.5(ALG1):c.1055A>T (p.Asp352Val)
|
rs765238558
|
0.00002
|
NM_019109.5(ALG1):c.1187+1G>A
|
rs374928784
|
0.00002
|
NM_019109.5(ALG1):c.1188-2A>G
|
rs794727073
|
0.00002
|
NM_019109.5(ALG1):c.1250_1251insTG (p.Ala418fs)
|
rs746019074
|
0.00002
|
NM_019109.5(ALG1):c.1324C>T (p.Arg442Trp)
|
rs764363207
|
0.00002
|
NM_019109.5(ALG1):c.135C>T (p.Arg45=)
|
rs779092735
|
0.00002
|
NM_019109.5(ALG1):c.1387G>T (p.Asp463Tyr)
|
rs765599429
|
0.00002
|
NM_019109.5(ALG1):c.1393T>C (p.Ter465Gln)
|
rs3204229
|
0.00002
|
NM_019109.5(ALG1):c.208+14_208+17dup
|
rs746780708
|
0.00002
|
NM_019109.5(ALG1):c.401G>C (p.Gly134Ala)
|
rs763309062
|
0.00002
|
NM_019109.5(ALG1):c.430G>A (p.Val144Met)
|
rs770392954
|
0.00002
|
NM_019109.5(ALG1):c.579G>A (p.Leu193=)
|
rs750145784
|
0.00002
|
NM_019109.5(ALG1):c.683A>G (p.Asp228Gly)
|
rs759264819
|
0.00002
|
NM_019109.5(ALG1):c.820C>T (p.Arg274Cys)
|
rs201867255
|
0.00002
|
NM_019109.5(ALG1):c.841G>T (p.Val281Phe)
|
rs553396382
|
0.00002
|
NM_019109.5(ALG1):c.932A>G (p.Asn311Ser)
|
rs549071467
|
0.00002
|
NM_019109.5(ALG1):c.934C>T (p.Leu312Phe)
|
rs761452986
|
0.00002
|
NM_019109.5(ALG1):c.941C>T (p.Ser314Phe)
|
rs569218235
|
0.00002
|
NM_019109.5(ALG1):c.945C>T (p.Leu315=)
|
rs766773704
|
0.00002
|
NM_024079.5(ALG8):c.-5C>T
|
rs886048689
|
0.00002
|
NM_024079.5(ALG8):c.1276+9C>T
|
rs747836496
|
0.00002
|
NM_024079.5(ALG8):c.616G>A (p.Ala206Thr)
|
rs769894472
|
0.00002
|
NM_024079.5(ALG8):c.897C>T (p.Ile299=)
|
rs886048686
|
0.00002
|
NM_024079.5(ALG8):c.95+16G>A
|
rs376357429
|
0.00002
|
NM_024105.4(ALG12):c.*276T>G
|
rs760147302
|
0.00002
|
NM_024105.4(ALG12):c.1020G>A (p.Leu340=)
|
rs774752704
|
0.00002
|
NM_024105.4(ALG12):c.1119C>T (p.Gly373=)
|
rs765700872
|
0.00002
|
NM_024105.4(ALG12):c.1122C>T (p.Val374=)
|
rs373583849
|
0.00002
|
NM_024105.4(ALG12):c.1133G>A (p.Arg378Lys)
|
rs148798409
|
0.00002
|
NM_024105.4(ALG12):c.1183G>A (p.Val395Met)
|
rs759024738
|
0.00002
|
NM_024105.4(ALG12):c.1231G>A (p.Ala411Thr)
|
rs755033821
|
0.00002
|
NM_024105.4(ALG12):c.1239-16A>G
|
rs915149632
|
0.00002
|
NM_024105.4(ALG12):c.1242C>T (p.Tyr414=)
|
rs121907935
|
0.00002
|
NM_024105.4(ALG12):c.1363G>A (p.Val455Met)
|
rs367671008
|
0.00002
|
NM_024105.4(ALG12):c.1413C>T (p.Asn471=)
|
rs767232423
|
0.00002
|
NM_024105.4(ALG12):c.163-4G>A
|
rs776043296
|
0.00002
|
NM_024105.4(ALG12):c.166G>A (p.Asp56Asn)
|
rs201033281
|
0.00002
|
NM_024105.4(ALG12):c.184G>A (p.Gly62Arg)
|
rs777719396
|
0.00002
|
NM_024105.4(ALG12):c.207C>T (p.Leu69=)
|
rs765297992
|
0.00002
|
NM_024105.4(ALG12):c.434C>T (p.Thr145Met)
|
rs748460466
|
0.00002
|
NM_024105.4(ALG12):c.435G>A (p.Thr145=)
|
rs781076714
|
0.00002
|
NM_024105.4(ALG12):c.470-10T>C
|
rs925389913
|
0.00002
|
NM_024105.4(ALG12):c.470-3C>T
|
rs751546611
|
0.00002
|
NM_024105.4(ALG12):c.535G>A (p.Ala179Thr)
|
rs952664215
|
0.00002
|
NM_024105.4(ALG12):c.57C>T (p.Ala19=)
|
rs763942380
|
0.00002
|
NM_024105.4(ALG12):c.776C>T (p.Pro259Leu)
|
rs149109851
|
0.00002
|
NM_024592.5(SRD5A3):c.*1567T>C
|
rs886059475
|
0.00002
|
NM_024592.5(SRD5A3):c.124G>A (p.Gly42Ser)
|
rs145649665
|
0.00002
|
NM_024592.5(SRD5A3):c.2T>C (p.Met1Thr)
|
rs548088851
|
0.00002
|
NM_024592.5(SRD5A3):c.365-19G>C
|
rs376721684
|
0.00002
|
NM_024592.5(SRD5A3):c.444C>T (p.Leu148=)
|
rs201424796
|
0.00002
|
NM_024592.5(SRD5A3):c.673G>A (p.Gly225Ser)
|
rs748408459
|
0.00002
|
NM_024740.2(ALG9):c.*1311A>G
|
rs912924184
|
0.00002
|
NM_024740.2(ALG9):c.188A>G (p.Lys63Arg)
|
rs781991188
|
0.00002
|
NM_024740.2(ALG9):c.388A>G (p.Ile130Val)
|
rs782298472
|
0.00002
|
NM_033087.4(ALG2):c.1174G>A (p.Ala392Thr)
|
rs138258236
|
0.00002
|
NM_033087.4(ALG2):c.1218G>C (p.Gln406His)
|
rs763754023
|
0.00002
|
NM_033087.4(ALG2):c.1230T>C (p.Tyr410=)
|
rs372356780
|
0.00002
|
NM_033087.4(ALG2):c.180C>G (p.Phe60Leu)
|
rs777441526
|
0.00002
|
NM_033087.4(ALG2):c.20G>A (p.Arg7Gln)
|
rs776974668
|
0.00002
|
NM_033087.4(ALG2):c.248G>A (p.Gly83Asp)
|
rs376627887
|
0.00002
|
NM_033087.4(ALG2):c.361A>G (p.Ile121Val)
|
rs774204697
|
0.00002
|
NM_033087.4(ALG2):c.426G>C (p.Leu142=)
|
rs778882264
|
0.00002
|
NM_033087.4(ALG2):c.462A>G (p.Leu154=)
|
rs746100517
|
0.00002
|
NM_033087.4(ALG2):c.484A>G (p.Ile162Val)
|
rs529195050
|
0.00002
|
NM_033087.4(ALG2):c.6G>A (p.Ala2=)
|
rs766287162
|
0.00002
|
NM_033087.4(ALG2):c.752G>A (p.Arg251His)
|
rs201729325
|
0.00002
|
NM_033087.4(ALG2):c.784G>T (p.Val262Phe)
|
rs1229029511
|
0.00002
|
NM_033087.4(ALG2):c.93G>C (p.Arg31=)
|
rs1012959999
|
0.00002
|
NM_052859.4(RFT1):c.*972A>G
|
rs1442056912
|
0.00002
|
NM_052859.4(RFT1):c.1102+5G>A
|
rs947230997
|
0.00002
|
NM_052859.4(RFT1):c.1187T>C (p.Met396Thr)
|
rs759448727
|
0.00002
|
NM_052859.4(RFT1):c.1286T>C (p.Val429Ala)
|
rs748400773
|
0.00002
|
NM_052859.4(RFT1):c.1325G>A (p.Arg442Gln)
|
rs749968109
|
0.00002
|
NM_052859.4(RFT1):c.1354C>T (p.Arg452Cys)
|
rs754157422
|
0.00002
|
NM_052859.4(RFT1):c.1606C>T (p.Arg536Cys)
|
rs376867132
|
0.00002
|
NM_052859.4(RFT1):c.1607G>A (p.Arg536His)
|
rs781398694
|
0.00002
|
NM_052859.4(RFT1):c.182T>C (p.Leu61Pro)
|
rs758269687
|
0.00002
|
NM_052859.4(RFT1):c.22G>T (p.Gly8Cys)
|
rs993455093
|
0.00002
|
NM_052859.4(RFT1):c.454A>G (p.Lys152Glu)
|
rs763862849
|
0.00002
|
NM_052859.4(RFT1):c.511G>A (p.Val171Met)
|
rs561602179
|
0.00002
|
NM_052859.4(RFT1):c.558+10A>T
|
rs780500145
|
0.00002
|
NM_052859.4(RFT1):c.64-16T>C
|
rs773512206
|
0.00002
|
NM_052859.4(RFT1):c.801G>T (p.Leu267Phe)
|
rs745687063
|
0.00002
|
NM_052859.4(RFT1):c.958-17C>T
|
rs375365942
|
0.00002
|
NM_138459.5(NUS1):c.153G>T (p.Pro51=)
|
rs868271796
|
0.00002
|
NM_138459.5(NUS1):c.199C>A (p.Arg67Ser)
|
rs1433668009
|
0.00002
|
NM_138459.5(NUS1):c.324G>A (p.Val108=)
|
rs769619847
|
0.00002
|
NM_138459.5(NUS1):c.638A>G (p.Gln213Arg)
|
rs771454891
|
0.00002
|
NM_138459.5(NUS1):c.674C>T (p.Thr225Met)
|
rs760187558
|
0.00002
|
NM_138459.5(NUS1):c.75G>C (p.Trp25Cys)
|
rs774553541
|
0.00002
|
NM_152713.5(STT3A):c.1310G>A (p.Arg437His)
|
rs776079118
|
0.00002
|
NM_153741.2(DPM3):c.179G>T (p.Arg60Leu)
|
rs773427971
|
0.00002
|
NM_000303.3(PMM2):c.*1260C>T
|
rs886052471
|
0.00001
|
NM_000303.3(PMM2):c.*1345T>C
|
rs144652247
|
0.00001
|
NM_000303.3(PMM2):c.*658C>T
|
rs549756162
|
0.00001
|
NM_000303.3(PMM2):c.*891C>T
|
rs886052468
|
0.00001
|
NM_000303.3(PMM2):c.111G>A (p.Gln37=)
|
rs762773046
|
0.00001
|
NM_000303.3(PMM2):c.124G>A (p.Gly42Arg)
|
rs755402538
|
0.00001
|
NM_000303.3(PMM2):c.126A>G (p.Gly42=)
|
rs766984518
|
0.00001
|
NM_000303.3(PMM2):c.127G>C (p.Val43Leu)
|
rs376754460
|
0.00001
|
NM_000303.3(PMM2):c.129G>C (p.Val43=)
|
rs777608895
|
0.00001
|
NM_000303.3(PMM2):c.141G>A (p.Ser47=)
|
rs533650526
|
0.00001
|
NM_000303.3(PMM2):c.14G>A (p.Gly5Asp)
|
rs773813007
|
0.00001
|
NM_000303.3(PMM2):c.159G>A (p.Gln53=)
|
rs1481859853
|
0.00001
|
NM_000303.3(PMM2):c.178+12G>A
|
rs2060618999
|
0.00001
|
NM_000303.3(PMM2):c.178G>T (p.Val60Leu)
|
rs759513930
|
0.00001
|
NM_000303.3(PMM2):c.179-4G>T
|
rs776262869
|
0.00001
|
NM_000303.3(PMM2):c.193G>T (p.Asp65Tyr)
|
rs104894527
|
0.00001
|
NM_000303.3(PMM2):c.213T>C (p.Asn71=)
|
rs1209724849
|
0.00001
|
NM_000303.3(PMM2):c.240A>G (p.Lys80=)
|
rs748552663
|
0.00001
|
NM_000303.3(PMM2):c.252A>T (p.Arg84Ser)
|
rs375826588
|
0.00001
|
NM_000303.3(PMM2):c.255+5G>T
|
rs370480677
|
0.00001
|
NM_000303.3(PMM2):c.255G>A (p.Gln85=)
|
rs115344041
|
0.00001
|
NM_000303.3(PMM2):c.256-1G>C
|
rs757394782
|
0.00001
|
NM_000303.3(PMM2):c.27C>T (p.Cys9=)
|
rs1057516943
|
0.00001
|
NM_000303.3(PMM2):c.284del (p.Leu95fs)
|
rs757865122
|
0.00001
|
NM_000303.3(PMM2):c.28C>T (p.Leu10Phe)
|
rs1215262242
|
0.00001
|
NM_000303.3(PMM2):c.305A>G (p.Tyr102Cys)
|
rs1187245939
|
0.00001
|
NM_000303.3(PMM2):c.306C>T (p.Tyr102=)
|
rs184769421
|
0.00001
|
NM_000303.3(PMM2):c.310C>G (p.Leu104Val)
|
rs770458492
|
0.00001
|
NM_000303.3(PMM2):c.312G>A (p.Leu104=)
|
rs773943361
|
0.00001
|
NM_000303.3(PMM2):c.323C>T (p.Ala108Val)
|
rs200503569
|
0.00001
|
NM_000303.3(PMM2):c.334C>G (p.Leu112Val)
|
rs757323701
|
0.00001
|
NM_000303.3(PMM2):c.338C>T (p.Pro113Leu)
|
rs80338700
|
0.00001
|
NM_000303.3(PMM2):c.390C>T (p.Ser130=)
|
rs763944822
|
0.00001
|
NM_000303.3(PMM2):c.395T>C (p.Ile132Thr)
|
rs80338702
|
0.00001
|
NM_000303.3(PMM2):c.401G>A (p.Arg134Lys)
|
rs1159211374
|
0.00001
|
NM_000303.3(PMM2):c.408C>T (p.Cys136=)
|
rs371694616
|
0.00001
|
NM_000303.3(PMM2):c.414A>G (p.Gln138=)
|
rs1465175487
|
0.00001
|
NM_000303.3(PMM2):c.43G>A (p.Gly15Arg)
|
rs767831048
|
0.00001
|
NM_000303.3(PMM2):c.458T>C (p.Ile153Thr)
|
rs150577656
|
0.00001
|
NM_000303.3(PMM2):c.523+3A>G
|
rs774107741
|
0.00001
|
NM_000303.3(PMM2):c.523+8A>G
|
rs374840518
|
0.00001
|
NM_000303.3(PMM2):c.524-15G>A
|
rs770574770
|
0.00001
|
NM_000303.3(PMM2):c.524-6C>T
|
rs772184641
|
0.00001
|
NM_000303.3(PMM2):c.52A>C (p.Thr18Pro)
|
rs757040733
|
0.00001
|
NM_000303.3(PMM2):c.531G>C (p.Gln177His)
|
rs771162235
|
0.00001
|
NM_000303.3(PMM2):c.53C>G (p.Thr18Ser)
|
rs760265100
|
0.00001
|
NM_000303.3(PMM2):c.545T>A (p.Val182Asp)
|
rs774532663
|
0.00001
|
NM_000303.3(PMM2):c.549T>C (p.Phe183=)
|
rs1426754260
|
0.00001
|
NM_000303.3(PMM2):c.559T>C (p.Trp187Arg)
|
rs781346472
|
0.00001
|
NM_000303.3(PMM2):c.560G>A (p.Trp187Ter)
|
rs1057516886
|
0.00001
|
NM_000303.3(PMM2):c.563A>G (p.Asp188Gly)
|
rs80338704
|
0.00001
|
NM_000303.3(PMM2):c.58C>T (p.Pro20Ser)
|
rs949271895
|
0.00001
|
NM_000303.3(PMM2):c.593A>C (p.Asn198Thr)
|
rs773420873
|
0.00001
|
NM_000303.3(PMM2):c.595G>C (p.Asp199His)
|
rs1281138749
|
0.00001
|
NM_000303.3(PMM2):c.620T>C (p.Phe207Ser)
|
rs532870929
|
0.00001
|
NM_000303.3(PMM2):c.623G>C (p.Gly208Ala)
|
rs398123309
|
0.00001
|
NM_000303.3(PMM2):c.639+7A>G
|
rs2060687125
|
0.00001
|
NM_000303.3(PMM2):c.640-7T>C
|
rs1255464127
|
0.00001
|
NM_000303.3(PMM2):c.645C>T (p.Gly215=)
|
rs765599626
|
0.00001
|
NM_000303.3(PMM2):c.647A>G (p.Asn216Ser)
|
rs78290141
|
0.00001
|
NM_000303.3(PMM2):c.648T>C (p.Asn216=)
|
rs139236770
|
0.00001
|
NM_000303.3(PMM2):c.652C>A (p.His218Asn)
|
rs398123310
|
0.00001
|
NM_000303.3(PMM2):c.66+1G>T
|
rs937726878
|
0.00001
|
NM_000303.3(PMM2):c.66+7G>A
|
rs1272368081
|
0.00001
|
NM_000303.3(PMM2):c.690C>T (p.Ser230=)
|
rs769332588
|
0.00001
|
NM_000303.3(PMM2):c.720C>A (p.Ile240=)
|
rs923499720
|
0.00001
|
NM_000303.3(PMM2):c.95T>G (p.Leu32Arg)
|
rs104894533
|
0.00001
|
NM_000303.3(PMM2):c.97C>T (p.Gln33Ter)
|
rs149530060
|
0.00001
|
NM_001004127.3(ALG11):c.1034G>T (p.Cys345Phe)
|
rs886050313
|
0.00001
|
NM_001004127.3(ALG11):c.1214T>C (p.Val405Ala)
|
rs200978613
|
0.00001
|
NM_001004127.3(ALG11):c.497A>G (p.Gln166Arg)
|
rs756365610
|
0.00001
|
NM_001004127.3(ALG11):c.946C>G (p.Pro316Ala)
|
rs765431074
|
0.00001
|
NM_001004127.3(ALG11):c.987G>A (p.Lys329=)
|
rs921029114
|
0.00001
|
NM_001099922.3(ALG13):c.1010T>A (p.Leu337Gln)
|
rs1189252877
|
0.00001
|
NM_001099922.3(ALG13):c.1029T>C (p.Ser343=)
|
rs772765360
|
0.00001
|
NM_001099922.3(ALG13):c.1064A>G (p.Gln355Arg)
|
rs372521943
|
0.00001
|
NM_001099922.3(ALG13):c.10G>A (p.Val4Met)
|
rs1245567722
|
0.00001
|
NM_001099922.3(ALG13):c.1134A>G (p.Glu378=)
|
rs778696912
|
0.00001
|
NM_001099922.3(ALG13):c.114C>T (p.Ile38=)
|
rs1206750653
|
0.00001
|
NM_001099922.3(ALG13):c.1164T>C (p.Phe388=)
|
rs1463398527
|
0.00001
|
NM_001099922.3(ALG13):c.1182G>A (p.Lys394=)
|
rs1602694246
|
0.00001
|
NM_001099922.3(ALG13):c.1217C>T (p.Ala406Val)
|
rs1057522541
|
0.00001
|
NM_001099922.3(ALG13):c.1305T>G (p.Asn435Lys)
|
rs1160640023
|
0.00001
|
NM_001099922.3(ALG13):c.1308A>G (p.Lys436=)
|
rs1423402192
|
0.00001
|
NM_001099922.3(ALG13):c.1435+12T>C
|
rs1051547008
|
0.00001
|
NM_001099922.3(ALG13):c.1603C>T (p.His535Tyr)
|
rs1941811361
|
0.00001
|
NM_001099922.3(ALG13):c.1619C>T (p.Ala540Val)
|
rs1234385710
|
0.00001
|
NM_001099922.3(ALG13):c.1630C>T (p.Pro544Ser)
|
rs1941811792
|
0.00001
|
NM_001099922.3(ALG13):c.1641A>G (p.Gln547=)
|
rs768589790
|
0.00001
|
NM_001099922.3(ALG13):c.1643T>C (p.Val548Ala)
|
rs1238751751
|
0.00001
|
NM_001099922.3(ALG13):c.1661G>T (p.Trp554Leu)
|
rs1364102879
|
0.00001
|
NM_001099922.3(ALG13):c.1694A>G (p.Tyr565Cys)
|
rs1159974001
|
0.00001
|
NM_001099922.3(ALG13):c.1729+8T>C
|
rs762562568
|
0.00001
|
NM_001099922.3(ALG13):c.172C>T (p.Leu58=)
|
rs765437651
|
0.00001
|
NM_001099922.3(ALG13):c.1730-20C>T
|
rs1942098220
|
0.00001
|
NM_001099922.3(ALG13):c.1730-3A>T
|
rs1318967967
|
0.00001
|
NM_001099922.3(ALG13):c.1730-7C>T
|
rs750726885
|
0.00001
|
NM_001099922.3(ALG13):c.1733T>C (p.Ile578Thr)
|
rs780580927
|
0.00001
|
NM_001099922.3(ALG13):c.1772A>G (p.Lys591Arg)
|
rs369838463
|
0.00001
|
NM_001099922.3(ALG13):c.1851C>T (p.His617=)
|
rs1454391584
|
0.00001
|
NM_001099922.3(ALG13):c.1869C>T (p.His623=)
|
rs747208594
|
0.00001
|
NM_001099922.3(ALG13):c.1896A>T (p.Thr632=)
|
rs1258429433
|
0.00001
|
NM_001099922.3(ALG13):c.1910T>C (p.Met637Thr)
|
rs774331771
|
0.00001
|
NM_001099922.3(ALG13):c.1921C>G (p.His641Asp)
|
rs760283589
|
0.00001
|
NM_001099922.3(ALG13):c.1934A>C (p.Gln645Pro)
|
rs765734812
|
0.00001
|
NM_001099922.3(ALG13):c.1947G>A (p.Pro649=)
|
rs758659441
|
0.00001
|
NM_001099922.3(ALG13):c.1954G>T (p.Gly652Cys)
|
rs1164687660
|
0.00001
|
NM_001099922.3(ALG13):c.2033_2038del (p.Tyr678_Gly680delinsCys)
|
rs764031698
|
0.00001
|
NM_001099922.3(ALG13):c.2055C>T (p.Cys685=)
|
rs1942191104
|
0.00001
|
NM_001099922.3(ALG13):c.2066A>G (p.Tyr689Cys)
|
rs1470650822
|
0.00001
|
NM_001099922.3(ALG13):c.2082T>C (p.Tyr694=)
|
rs778640194
|
0.00001
|
NM_001099922.3(ALG13):c.2110C>T (p.Arg704Cys)
|
rs767153325
|
0.00001
|
NM_001099922.3(ALG13):c.2260C>T (p.Pro754Ser)
|
rs775045681
|
0.00001
|
NM_001099922.3(ALG13):c.2312A>G (p.His771Arg)
|
rs756114101
|
0.00001
|
NM_001099922.3(ALG13):c.2320G>C (p.Gly774Arg)
|
rs1208800822
|
0.00001
|
NM_001099922.3(ALG13):c.2351A>G (p.Asn784Ser)
|
rs1478132547
|
0.00001
|
NM_001099922.3(ALG13):c.2368+10T>G
|
rs1556509952
|
0.00001
|
NM_001099922.3(ALG13):c.2372G>A (p.Arg791Gln)
|
rs374290658
|
0.00001
|
NM_001099922.3(ALG13):c.2376T>C (p.Tyr792=)
|
rs776863825
|
0.00001
|
NM_001099922.3(ALG13):c.2395C>T (p.Arg799Cys)
|
rs763877039
|
0.00001
|
NM_001099922.3(ALG13):c.2434A>G (p.Thr812Ala)
|
rs781178409
|
0.00001
|
NM_001099922.3(ALG13):c.245-12T>G
|
rs773672059
|
0.00001
|
NM_001099922.3(ALG13):c.245-20A>C
|
rs747784575
|
0.00001
|
NM_001099922.3(ALG13):c.2475G>A (p.Lys825=)
|
rs1298792527
|
0.00001
|
NM_001099922.3(ALG13):c.2495A>C (p.Gln832Pro)
|
rs781652731
|
0.00001
|
NM_001099922.3(ALG13):c.2523C>T (p.Pro841=)
|
rs1229717685
|
0.00001
|
NM_001099922.3(ALG13):c.2529+11T>C
|
rs773084617
|
0.00001
|
NM_001099922.3(ALG13):c.2529+5T>C
|
rs749420976
|
0.00001
|
NM_001099922.3(ALG13):c.2529+7C>T
|
rs1307752089
|
0.00001
|
NM_001099922.3(ALG13):c.2529+9C>T
|
rs771372378
|
0.00001
|
NM_001099922.3(ALG13):c.2543T>C (p.Ile848Thr)
|
rs201541531
|
0.00001
|
NM_001099922.3(ALG13):c.2564G>A (p.Cys855Tyr)
|
rs1279923204
|
0.00001
|
NM_001099922.3(ALG13):c.2593T>C (p.Ser865Pro)
|
rs199990990
|
0.00001
|
NM_001099922.3(ALG13):c.2605G>A (p.Ala869Thr)
|
rs1202237862
|
0.00001
|
NM_001099922.3(ALG13):c.2607G>A (p.Ala869=)
|
rs746842727
|
0.00001
|
NM_001099922.3(ALG13):c.2695+15G>C
|
rs1057522064
|
0.00001
|
NM_001099922.3(ALG13):c.2703C>T (p.Ala901=)
|
rs1190999050
|
0.00001
|
NM_001099922.3(ALG13):c.273A>G (p.Glu91=)
|
rs1057522348
|
0.00001
|
NM_001099922.3(ALG13):c.2758C>A (p.Pro920Thr)
|
rs748792396
|
0.00001
|
NM_001099922.3(ALG13):c.2853G>T (p.Glu951Asp)
|
rs755910935
|
0.00001
|
NM_001099922.3(ALG13):c.2884C>T (p.Pro962Ser)
|
rs1172385892
|
0.00001
|
NM_001099922.3(ALG13):c.2913C>T (p.Ser971=)
|
rs1944100964
|
0.00001
|
NM_001099922.3(ALG13):c.2932+17A>G
|
rs760993782
|
0.00001
|
NM_001099922.3(ALG13):c.2944T>C (p.Leu982=)
|
rs759545615
|
0.00001
|
NM_001099922.3(ALG13):c.3084C>T (p.Thr1028=)
|
rs758300150
|
0.00001
|
NM_001099922.3(ALG13):c.3145A>G (p.Asn1049Asp)
|
rs759347694
|
0.00001
|
NM_001099922.3(ALG13):c.3159G>A (p.Pro1053=)
|
rs1556539037
|
0.00001
|
NM_001099922.3(ALG13):c.3190G>A (p.Ala1064Thr)
|
rs756710193
|
0.00001
|
NM_001099922.3(ALG13):c.3197A>G (p.Tyr1066Cys)
|
rs1219035683
|
0.00001
|
NM_001099922.3(ALG13):c.3225G>A (p.Gly1075=)
|
rs771997156
|
0.00001
|
NM_001099922.3(ALG13):c.3239C>T (p.Pro1080Leu)
|
rs375062698
|
0.00001
|
NM_001099922.3(ALG13):c.3241G>A (p.Gly1081Ser)
|
rs760819207
|
0.00001
|
NM_001099922.3(ALG13):c.3261G>A (p.Pro1087=)
|
rs775320246
|
0.00001
|
NM_001099922.3(ALG13):c.3264T>C (p.Val1088=)
|
rs762647183
|
0.00001
|
NM_001099922.3(ALG13):c.3270A>G (p.Pro1090=)
|
rs1399015543
|
0.00001
|
NM_001099922.3(ALG13):c.3278C>T (p.Ser1093Phe)
|
rs1465704791
|
0.00001
|
NM_001099922.3(ALG13):c.3301G>C (p.Val1101Leu)
|
rs1370248370
|
0.00001
|
NM_001099922.3(ALG13):c.3337G>A (p.Gly1113Ser)
|
rs755772374
|
0.00001
|
NM_001099922.3(ALG13):c.3382C>T (p.Pro1128Ser)
|
rs772141937
|
0.00001
|
NM_001099922.3(ALG13):c.358G>A (p.Gly120Ser)
|
rs778521226
|
0.00001
|
NM_001099922.3(ALG13):c.384-8T>C
|
rs1276902484
|
0.00001
|
NM_001099922.3(ALG13):c.388C>G (p.Leu130Val)
|
rs1381653955
|
0.00001
|
NM_001099922.3(ALG13):c.389T>C (p.Leu130Pro)
|
rs1220905347
|
0.00001
|
NM_001099922.3(ALG13):c.426T>C (p.Ala142=)
|
rs759472632
|
0.00001
|
NM_001099922.3(ALG13):c.429T>C (p.Pro143=)
|
rs1173829709
|
0.00001
|
NM_001099922.3(ALG13):c.43G>A (p.Asp15Asn)
|
rs776133794
|
0.00001
|
NM_001099922.3(ALG13):c.456G>A (p.Leu152=)
|
rs762934062
|
0.00001
|
NM_001099922.3(ALG13):c.486T>C (p.Phe162=)
|
rs751015058
|
0.00001
|
NM_001099922.3(ALG13):c.571G>A (p.Ala191Thr)
|
rs778099828
|
0.00001
|
NM_001099922.3(ALG13):c.602T>C (p.Leu201Pro)
|
rs1042682745
|
0.00001
|
NM_001099922.3(ALG13):c.652A>G (p.Asn218Asp)
|
rs886042566
|
0.00001
|
NM_001099922.3(ALG13):c.744G>A (p.Ser248=)
|
rs755327837
|
0.00001
|
NM_001099922.3(ALG13):c.886-12A>G
|
rs770400535
|
0.00001
|
NM_001099922.3(ALG13):c.886-17A>G
|
rs1057523046
|
0.00001
|
NM_001367916.1(MAGT1):c.-3A>G
|
rs781882781
|
0.00001
|
NM_001382.4(DPAGT1):c.*386G>A
|
rs982028493
|
0.00001
|
NM_001382.4(DPAGT1):c.1006-8C>G
|
rs1357255095
|
0.00001
|
NM_001382.4(DPAGT1):c.1018C>T (p.Leu340Phe)
|
rs376996734
|
0.00001
|
NM_001382.4(DPAGT1):c.1024C>G (p.Leu342Val)
|
rs555841797
|
0.00001
|
NM_001382.4(DPAGT1):c.1037A>G (p.His346Arg)
|
rs1301940016
|
0.00001
|
NM_001382.4(DPAGT1):c.1134C>T (p.Asn378=)
|
rs761911331
|
0.00001
|
NM_001382.4(DPAGT1):c.1141T>C (p.Leu381=)
|
rs768805817
|
0.00001
|
NM_001382.4(DPAGT1):c.1161+10G>A
|
rs761082821
|
0.00001
|
NM_001382.4(DPAGT1):c.1188C>T (p.Ser396=)
|
rs747073447
|
0.00001
|
NM_001382.4(DPAGT1):c.1192C>T (p.Arg398Ter)
|
rs187919120
|
0.00001
|
NM_001382.4(DPAGT1):c.1203C>T (p.Leu401=)
|
rs746759603
|
0.00001
|
NM_001382.4(DPAGT1):c.1204G>A (p.Val402Ile)
|
rs779911586
|
0.00001
|
NM_001382.4(DPAGT1):c.1210C>T (p.Leu404Phe)
|
rs1272156856
|
0.00001
|
NM_001382.4(DPAGT1):c.1221T>C (p.Asp407=)
|
rs772133269
|
0.00001
|
NM_001382.4(DPAGT1):c.1224C>T (p.Val408=)
|
rs200588529
|
0.00001
|
NM_001382.4(DPAGT1):c.161+5G>A
|
rs397515322
|
0.00001
|
NM_001382.4(DPAGT1):c.161+6C>T
|
rs762402071
|
0.00001
|
NM_001382.4(DPAGT1):c.162-20C>T
|
rs749879111
|
0.00001
|
NM_001382.4(DPAGT1):c.175G>A (p.Gly59Arg)
|
rs1041735569
|
0.00001
|
NM_001382.4(DPAGT1):c.1A>C (p.Met1Leu)
|
rs1057521151
|
0.00001
|
NM_001382.4(DPAGT1):c.216C>T (p.Cys72=)
|
rs1438468092
|
0.00001
|
NM_001382.4(DPAGT1):c.26dup (p.Met9fs)
|
rs768656482
|
0.00001
|
NM_001382.4(DPAGT1):c.277C>G (p.His93Asp)
|
rs1234809605
|
0.00001
|
NM_001382.4(DPAGT1):c.332T>G (p.Leu111Arg)
|
rs759595271
|
0.00001
|
NM_001382.4(DPAGT1):c.34C>T (p.Leu12=)
|
rs200991527
|
0.00001
|
NM_001382.4(DPAGT1):c.359T>A (p.Leu120Gln)
|
rs368415403
|
0.00001
|
NM_001382.4(DPAGT1):c.360G>C (p.Leu120=)
|
rs1555207826
|
0.00001
|
NM_001382.4(DPAGT1):c.361C>T (p.Arg121Cys)
|
rs746187785
|
0.00001
|
NM_001382.4(DPAGT1):c.412A>G (p.Met138Val)
|
rs532412952
|
0.00001
|
NM_001382.4(DPAGT1):c.460C>T (p.Pro154Ser)
|
rs1229553796
|
0.00001
|
NM_001382.4(DPAGT1):c.466C>T (p.Arg156Cys)
|
rs762796464
|
0.00001
|
NM_001382.4(DPAGT1):c.470C>T (p.Pro157Leu)
|
rs1328286236
|
0.00001
|
NM_001382.4(DPAGT1):c.471G>A (p.Pro157=)
|
rs376528767
|
0.00001
|
NM_001382.4(DPAGT1):c.485A>G (p.His162Arg)
|
rs775716973
|
0.00001
|
NM_001382.4(DPAGT1):c.495G>A (p.Leu165=)
|
rs373632825
|
0.00001
|
NM_001382.4(DPAGT1):c.584C>G (p.Ala195Gly)
|
rs863225088
|
0.00001
|
NM_001382.4(DPAGT1):c.621C>T (p.Val207=)
|
rs778726543
|
0.00001
|
NM_001382.4(DPAGT1):c.633A>G (p.Val211=)
|
rs767551785
|
0.00001
|
NM_001382.4(DPAGT1):c.643+14G>C
|
rs536452844
|
0.00001
|
NM_001382.4(DPAGT1):c.643+2T>C
|
rs774754436
|
0.00001
|
NM_001382.4(DPAGT1):c.652C>T (p.Arg218Trp)
|
rs1053302601
|
0.00001
|
NM_001382.4(DPAGT1):c.699dup (p.Thr234fs)
|
rs397515321
|
0.00001
|
NM_001382.4(DPAGT1):c.714G>A (p.Leu238=)
|
rs1371529040
|
0.00001
|
NM_001382.4(DPAGT1):c.729-10C>A
|
rs1413156382
|
0.00001
|
NM_001382.4(DPAGT1):c.739C>T (p.Arg247Trp)
|
rs772988029
|
0.00001
|
NM_001382.4(DPAGT1):c.828A>G (p.Leu276=)
|
rs780516960
|
0.00001
|
NM_001382.4(DPAGT1):c.868C>G (p.Leu290Val)
|
rs376322200
|
0.00001
|
NM_001382.4(DPAGT1):c.901C>T (p.Arg301Cys)
|
rs776632995
|
0.00001
|
NM_001382.4(DPAGT1):c.902G>A (p.Arg301His)
|
rs768416381
|
0.00001
|
NM_001382.4(DPAGT1):c.933A>G (p.Thr311=)
|
rs1432186196
|
0.00001
|
NM_001382.4(DPAGT1):c.96C>T (p.Phe32=)
|
rs779048359
|
0.00001
|
NM_002435.3(MPI):c.*441G>C
|
rs1042476793
|
0.00001
|
NM_002435.3(MPI):c.*483G>C
|
rs886051486
|
0.00001
|
NM_002435.3(MPI):c.1002C>T (p.Tyr334=)
|
rs1244689117
|
0.00001
|
NM_002435.3(MPI):c.1038C>T (p.Thr346=)
|
rs2064832183
|
0.00001
|
NM_002435.3(MPI):c.1122G>C (p.Gln374His)
|
rs753458883
|
0.00001
|
NM_002435.3(MPI):c.1156A>T (p.Thr386Ser)
|
rs769768397
|
0.00001
|
NM_002435.3(MPI):c.1174C>T (p.Arg392Cys)
|
rs751962765
|
0.00001
|
NM_002435.3(MPI):c.123A>G (p.Ala41=)
|
rs1280433010
|
0.00001
|
NM_002435.3(MPI):c.1242G>A (p.Leu414=)
|
rs780975089
|
0.00001
|
NM_002435.3(MPI):c.1253G>A (p.Arg418His)
|
rs863225087
|
0.00001
|
NM_002435.3(MPI):c.13C>T (p.Arg5Ter)
|
rs1452559752
|
0.00001
|
NM_002435.3(MPI):c.145-11T>C
|
rs768029221
|
0.00001
|
NM_002435.3(MPI):c.145-1G>C
|
rs1057516573
|
0.00001
|
NM_002435.3(MPI):c.16+16G>T
|
rs751527702
|
0.00001
|
NM_002435.3(MPI):c.16+8A>G
|
rs765308824
|
0.00001
|
NM_002435.3(MPI):c.16+9T>C
|
rs763004015
|
0.00001
|
NM_002435.3(MPI):c.166C>T (p.Arg56Ter)
|
rs757168691
|
0.00001
|
NM_002435.3(MPI):c.18A>G (p.Val6=)
|
rs754249618
|
0.00001
|
NM_002435.3(MPI):c.1A>G (p.Met1Val)
|
rs528828174
|
0.00001
|
NM_002435.3(MPI):c.216C>T (p.Ser72=)
|
rs772501173
|
0.00001
|
NM_002435.3(MPI):c.244T>C (p.Leu82=)
|
rs1360638113
|
0.00001
|
NM_002435.3(MPI):c.251C>G (p.Ser84Ter)
|
rs978284448
|
0.00001
|
NM_002435.3(MPI):c.264C>T (p.Asp88=)
|
rs529795568
|
0.00001
|
NM_002435.3(MPI):c.27T>G (p.Leu9=)
|
rs193018589
|
0.00001
|
NM_002435.3(MPI):c.285C>T (p.Pro95=)
|
rs1001297444
|
0.00001
|
NM_002435.3(MPI):c.472G>A (p.Val158Ile)
|
rs886051482
|
0.00001
|
NM_002435.3(MPI):c.488-1G>C
|
rs759579169
|
0.00001
|
NM_002435.3(MPI):c.603G>C (p.Leu201=)
|
rs369609955
|
0.00001
|
NM_002435.3(MPI):c.628G>A (p.Val210Met)
|
rs781158335
|
0.00001
|
NM_002435.3(MPI):c.651G>A (p.Val217=)
|
rs762051658
|
0.00001
|
NM_002435.3(MPI):c.652A>T (p.Lys218Ter)
|
rs1057516424
|
0.00001
|
NM_002435.3(MPI):c.718C>T (p.Gln240Ter)
|
rs776340315
|
0.00001
|
NM_002435.3(MPI):c.723G>A (p.Leu241=)
|
rs965973212
|
0.00001
|
NM_002435.3(MPI):c.732G>A (p.Gln244=)
|
rs755747644
|
0.00001
|
NM_002435.3(MPI):c.746T>C (p.Ile249Thr)
|
rs201676072
|
0.00001
|
NM_002435.3(MPI):c.747C>T (p.Ile249=)
|
rs778875616
|
0.00001
|
NM_002435.3(MPI):c.768C>T (p.Phe256=)
|
rs1402063128
|
0.00001
|
NM_002435.3(MPI):c.7G>A (p.Ala3Thr)
|
rs770421382
|
0.00001
|
NM_002435.3(MPI):c.855G>A (p.Glu285=)
|
rs769504650
|
0.00001
|
NM_002435.3(MPI):c.902A>G (p.Lys301Arg)
|
rs534508637
|
0.00001
|
NM_002435.3(MPI):c.963C>T (p.Asp321=)
|
rs1256066211
|
0.00001
|
NM_002435.3(MPI):c.96C>T (p.Ala32=)
|
rs919325069
|
0.00001
|
NM_002435.3(MPI):c.992A>C (p.Glu331Ala)
|
rs1223295146
|
0.00001
|
NM_002633.3(PGM1):c.*348G>A
|
rs58522038
|
0.00001
|
NM_002633.3(PGM1):c.*357A>G
|
rs886046484
|
0.00001
|
NM_002633.3(PGM1):c.1102G>A (p.Ala368Thr)
|
rs748252747
|
0.00001
|
NM_002633.3(PGM1):c.1144+16G>A
|
rs755514698
|
0.00001
|
NM_002633.3(PGM1):c.1367G>T (p.Gly456Val)
|
rs777570538
|
0.00001
|
NM_002633.3(PGM1):c.1476C>T (p.Leu492=)
|
rs1649899491
|
0.00001
|
NM_002633.3(PGM1):c.1485A>G (p.Thr495=)
|
rs1172911815
|
0.00001
|
NM_002633.3(PGM1):c.1495C>T (p.Arg499Ter)
|
rs745993071
|
0.00001
|
NM_002633.3(PGM1):c.1507C>T (p.Arg503Ter)
|
rs397515423
|
0.00001
|
NM_002633.3(PGM1):c.1544G>A (p.Arg515Gln)
|
rs1453920894
|
0.00001
|
NM_002633.3(PGM1):c.1547T>C (p.Leu516Pro)
|
rs587777401
|
0.00001
|
NM_002633.3(PGM1):c.1577C>G (p.Ala526Gly)
|
rs757573887
|
0.00001
|
NM_002633.3(PGM1):c.159G>A (p.Gln53=)
|
rs370087543
|
0.00001
|
NM_002633.3(PGM1):c.160G>A (p.Glu54Lys)
|
rs772628932
|
0.00001
|
NM_002633.3(PGM1):c.1614C>T (p.Pro538=)
|
rs775453982
|
0.00001
|
NM_002633.3(PGM1):c.187G>T (p.Gly63Cys)
|
rs759782258
|
0.00001
|
NM_002633.3(PGM1):c.265G>A (p.Gly89Arg)
|
rs377500536
|
0.00001
|
NM_002633.3(PGM1):c.327T>C (p.Ile109=)
|
rs770271653
|
0.00001
|
NM_002633.3(PGM1):c.343A>G (p.Thr115Ala)
|
rs121918371
|
0.00001
|
NM_002633.3(PGM1):c.356A>G (p.Asn119Ser)
|
rs1213089649
|
0.00001
|
NM_002633.3(PGM1):c.425C>T (p.Ala142Val)
|
rs1276461747
|
0.00001
|
NM_002633.3(PGM1):c.649C>T (p.Arg217Ter)
|
rs770066171
|
0.00001
|
NM_002633.3(PGM1):c.76G>A (p.Val26Met)
|
rs1300863085
|
0.00001
|
NM_002633.3(PGM1):c.783C>T (p.His261=)
|
rs886046481
|
0.00001
|
NM_002633.3(PGM1):c.873+6T>C
|
rs368068987
|
0.00001
|
NM_002633.3(PGM1):c.878G>A (p.Arg293Gln)
|
rs1466885233
|
0.00001
|
NM_002633.3(PGM1):c.985C>T (p.Arg329Cys)
|
rs778199808
|
0.00001
|
NM_002633.3(PGM1):c.986G>A (p.Arg329His)
|
rs747394265
|
0.00001
|
NM_003859.3(DPM1):c.162-17A>G
|
rs376823531
|
0.00001
|
NM_003859.3(DPM1):c.168C>G (p.Ile56Met)
|
rs562769511
|
0.00001
|
NM_003859.3(DPM1):c.202C>G (p.Pro68Ala)
|
rs1986767219
|
0.00001
|
NM_003859.3(DPM1):c.212C>T (p.Thr71Ile)
|
rs750927313
|
0.00001
|
NM_003859.3(DPM1):c.219T>C (p.Asp73=)
|
rs753295960
|
0.00001
|
NM_003859.3(DPM1):c.295+7C>T
|
rs775797102
|
0.00001
|
NM_003859.3(DPM1):c.295+8G>A
|
rs758553918
|
0.00001
|
NM_003859.3(DPM1):c.339C>T (p.Tyr113=)
|
rs749555898
|
0.00001
|
NM_003859.3(DPM1):c.35G>T (p.Arg12Met)
|
rs559291357
|
0.00001
|
NM_003859.3(DPM1):c.373-11T>C
|
rs750138754
|
0.00001
|
NM_003859.3(DPM1):c.49C>G (p.Leu17Val)
|
rs761143591
|
0.00001
|
NM_003859.3(DPM1):c.506A>G (p.Asn169Ser)
|
rs727503905
|
0.00001
|
NM_003859.3(DPM1):c.52G>C (p.Glu18Gln)
|
rs11553474
|
0.00001
|
NM_003859.3(DPM1):c.563+15T>C
|
rs1285003493
|
0.00001
|
NM_003859.3(DPM1):c.571C>T (p.Arg191Ter)
|
rs1324743951
|
0.00001
|
NM_003859.3(DPM1):c.63T>A (p.Ser21Arg)
|
rs747972169
|
0.00001
|
NM_003859.3(DPM1):c.647G>A (p.Arg216Gln)
|
rs769390268
|
0.00001
|
NM_003859.3(DPM1):c.675C>T (p.Gly225=)
|
rs1414447653
|
0.00001
|
NM_003859.3(DPM1):c.678+4T>G
|
rs948892336
|
0.00001
|
NM_003859.3(DPM1):c.678+8A>G
|
rs771147863
|
0.00001
|
NM_003859.3(DPM1):c.679-12T>A
|
rs1985048219
|
0.00001
|
NM_003859.3(DPM1):c.701G>A (p.Arg234His)
|
rs760322056
|
0.00001
|
NM_003859.3(DPM1):c.754G>A (p.Gly252Arg)
|
rs1205339617
|
0.00001
|
NM_003859.3(DPM1):c.757T>G (p.Leu253Val)
|
rs773403940
|
0.00001
|
NM_003859.3(DPM1):c.763A>G (p.Thr255Ala)
|
rs748394583
|
0.00001
|
NM_003863.3(DPM2):c.-208G>A
|
rs1290789503
|
0.00001
|
NM_003863.3(DPM2):c.-88C>T
|
rs886063484
|
0.00001
|
NM_003863.4(DPM2):c.*14A>T
|
rs1352343761
|
0.00001
|
NM_003863.4(DPM2):c.*529G>A
|
rs926580610
|
0.00001
|
NM_003863.4(DPM2):c.107G>A (p.Ser36Asn)
|
rs771463310
|
0.00001
|
NM_003863.4(DPM2):c.114T>C (p.His38=)
|
rs1482824230
|
0.00001
|
NM_003863.4(DPM2):c.124A>G (p.Lys42Glu)
|
rs370170911
|
0.00001
|
NM_003863.4(DPM2):c.127T>C (p.Tyr43His)
|
rs1275174624
|
0.00001
|
NM_003863.4(DPM2):c.144C>T (p.Ala48=)
|
rs779110103
|
0.00001
|
NM_003863.4(DPM2):c.145T>A (p.Tyr49Asn)
|
rs755055369
|
0.00001
|
NM_003863.4(DPM2):c.184C>G (p.Leu62Val)
|
rs766817693
|
0.00001
|
NM_003863.4(DPM2):c.197-9_197-8insA
|
rs1314437874
|
0.00001
|
NM_003863.4(DPM2):c.208T>G (p.Ser70Ala)
|
rs759597928
|
0.00001
|
NM_003863.4(DPM2):c.3+5G>A
|
rs1333396682
|
0.00001
|
NM_003863.4(DPM2):c.33C>T (p.Leu11=)
|
rs781596486
|
0.00001
|
NM_003863.4(DPM2):c.93+13C>A
|
rs772691262
|
0.00001
|
NM_003863.4(DPM2):c.94-8G>T
|
rs773731630
|
0.00001
|
NM_004341.5(CAD):c.1352A>G (p.Tyr451Cys)
|
rs770953907
|
0.00001
|
NM_004341.5(CAD):c.2492G>A (p.Arg831His)
|
rs779903352
|
0.00001
|
NM_004341.5(CAD):c.2995G>A (p.Val999Met)
|
rs1475014505
|
0.00001
|
NM_004341.5(CAD):c.4315-1G>A
|
rs1291590169
|
0.00001
|
NM_004341.5(CAD):c.4315-3C>T
|
rs867496821
|
0.00001
|
NM_004341.5(CAD):c.4564-9C>G
|
rs575379595
|
0.00001
|
NM_004341.5(CAD):c.4655C>T (p.Ala1552Val)
|
rs1041556030
|
0.00001
|
NM_004341.5(CAD):c.4760T>C (p.Ile1587Thr)
|
rs370372528
|
0.00001
|
NM_004341.5(CAD):c.6047G>A (p.Cys2016Tyr)
|
rs768937191
|
0.00001
|
NM_004341.5(CAD):c.6071G>A (p.Arg2024Gln)
|
rs763410987
|
0.00001
|
NM_004341.5(CAD):c.625C>G (p.Leu209Val)
|
rs374182358
|
0.00001
|
NM_004341.5(CAD):c.6365G>A (p.Arg2122His)
|
rs553324190
|
0.00001
|
NM_004341.5(CAD):c.859C>T (p.Arg287Cys)
|
rs753478495
|
0.00001
|
NM_004870.4(MPDU1):c.*135C>G
|
rs780090441
|
0.00001
|
NM_004870.4(MPDU1):c.*399G>C
|
rs1289297756
|
0.00001
|
NM_004870.4(MPDU1):c.103+19C>T
|
rs1320410758
|
0.00001
|
NM_004870.4(MPDU1):c.10G>A (p.Glu4Lys)
|
rs772047932
|
0.00001
|
NM_004870.4(MPDU1):c.184G>A (p.Val62Met)
|
rs777819415
|
0.00001
|
NM_004870.4(MPDU1):c.19G>T (p.Gly7Ter)
|
rs555710402
|
0.00001
|
NM_004870.4(MPDU1):c.218G>A (p.Gly73Glu)
|
rs104894586
|
0.00001
|
NM_004870.4(MPDU1):c.221T>C (p.Leu74Ser)
|
rs104894589
|
0.00001
|
NM_004870.4(MPDU1):c.303-16A>G
|
rs566030367
|
0.00001
|
NM_004870.4(MPDU1):c.437C>T (p.Ser146Leu)
|
rs775584076
|
0.00001
|
NM_004870.4(MPDU1):c.511del (p.Leu171fs)
|
rs756471132
|
0.00001
|
NM_004870.4(MPDU1):c.514C>T (p.Gln172Ter)
|
rs999384296
|
0.00001
|
NM_004870.4(MPDU1):c.599G>A (p.Arg200Gln)
|
rs200077070
|
0.00001
|
NM_004870.4(MPDU1):c.613A>G (p.Ile205Val)
|
rs1473747780
|
0.00001
|
NM_004870.4(MPDU1):c.648C>T (p.Thr216=)
|
rs760109502
|
0.00001
|
NM_004870.4(MPDU1):c.724A>C (p.Lys242Gln)
|
rs1029176907
|
0.00001
|
NM_004870.4(MPDU1):c.735G>A (p.Lys245=)
|
rs750023688
|
0.00001
|
NM_004870.4(MPDU1):c.84T>C (p.Val28=)
|
rs1430454810
|
0.00001
|
NM_005216.5(DDOST):c.1096G>A (p.Asp366Asn)
|
rs886045864
|
0.00001
|
NM_005216.5(DDOST):c.1098C>T (p.Asp366=)
|
rs777455786
|
0.00001
|
NM_005216.5(DDOST):c.10A>G (p.Ser4Gly)
|
rs1166127455
|
0.00001
|
NM_005216.5(DDOST):c.1196C>T (p.Thr399Met)
|
rs530990753
|
0.00001
|
NM_005216.5(DDOST):c.119G>A (p.Arg40Gln)
|
rs761548809
|
0.00001
|
NM_005216.5(DDOST):c.1281C>T (p.Ile427=)
|
rs923235061
|
0.00001
|
NM_005216.5(DDOST):c.154G>A (p.Asp52Asn)
|
rs778335267
|
0.00001
|
NM_005216.5(DDOST):c.168G>A (p.Glu56=)
|
rs747449468
|
0.00001
|
NM_005216.5(DDOST):c.188A>C (p.Asp63Ala)
|
rs2053427789
|
0.00001
|
NM_005216.5(DDOST):c.502A>G (p.Thr168Ala)
|
rs372948054
|
0.00001
|
NM_005216.5(DDOST):c.597G>A (p.Thr199=)
|
rs755031163
|
0.00001
|
NM_005216.5(DDOST):c.645G>C (p.Gln215His)
|
rs867045420
|
0.00001
|
NM_005216.5(DDOST):c.646-14C>T
|
rs543407020
|
0.00001
|
NM_005216.5(DDOST):c.709C>T (p.Arg237Cys)
|
rs748804145
|
0.00001
|
NM_005216.5(DDOST):c.780G>A (p.Ala260=)
|
rs961389384
|
0.00001
|
NM_005787.6(ALG3):c.1015G>A (p.Val339Ile)
|
rs1323127252
|
0.00001
|
NM_005787.6(ALG3):c.1024C>A (p.Leu342Ile)
|
rs568371168
|
0.00001
|
NM_005787.6(ALG3):c.1108T>C (p.Tyr370His)
|
rs377073728
|
0.00001
|
NM_005787.6(ALG3):c.1154G>C (p.Arg385Thr)
|
rs376927697
|
0.00001
|
NM_005787.6(ALG3):c.165C>T (p.Gly55=)
|
rs387906273
|
0.00001
|
NM_005787.6(ALG3):c.19A>C (p.Lys7Gln)
|
rs775068875
|
0.00001
|
NM_005787.6(ALG3):c.223A>G (p.Met75Val)
|
rs961577496
|
0.00001
|
NM_005787.6(ALG3):c.240C>T (p.Gly80=)
|
rs756013928
|
0.00001
|
NM_005787.6(ALG3):c.286G>A (p.Gly96Arg)
|
rs367679074
|
0.00001
|
NM_005787.6(ALG3):c.294T>A (p.Leu98=)
|
rs200538695
|
0.00001
|
NM_005787.6(ALG3):c.332T>G (p.Leu111Trp)
|
rs773227426
|
0.00001
|
NM_005787.6(ALG3):c.350G>C (p.Arg117Pro)
|
rs370434427
|
0.00001
|
NM_005787.6(ALG3):c.395A>G (p.Tyr132Cys)
|
rs1085307981
|
0.00001
|
NM_005787.6(ALG3):c.41C>T (p.Ala14Val)
|
rs767695697
|
0.00001
|
NM_005787.6(ALG3):c.469A>G (p.Met157Val)
|
rs1404929213
|
0.00001
|
NM_005787.6(ALG3):c.521A>G (p.Asn174Ser)
|
rs1719068613
|
0.00001
|
NM_005787.6(ALG3):c.605+9C>T
|
rs1177025121
|
0.00001
|
NM_005787.6(ALG3):c.611C>T (p.Ala204Val)
|
rs1719034314
|
0.00001
|
NM_005787.6(ALG3):c.656T>C (p.Leu219Pro)
|
rs1423328264
|
0.00001
|
NM_005787.6(ALG3):c.66G>A (p.Lys22=)
|
rs778269575
|
0.00001
|
NM_005787.6(ALG3):c.690G>A (p.Gly230=)
|
rs755828168
|
0.00001
|
NM_005787.6(ALG3):c.696C>T (p.Leu232=)
|
rs1174962210
|
0.00001
|
NM_005787.6(ALG3):c.72G>A (p.Trp24Ter)
|
rs1023520147
|
0.00001
|
NM_005787.6(ALG3):c.863C>T (p.Ala288Val)
|
rs772081381
|
0.00001
|
NM_005787.6(ALG3):c.914C>A (p.Ala305Asp)
|
rs373514167
|
0.00001
|
NM_005787.6(ALG3):c.953C>T (p.Ser318Leu)
|
rs756802179
|
0.00001
|
NM_005787.6(ALG3):c.954G>A (p.Ser318=)
|
rs372494174
|
0.00001
|
NM_005787.6(ALG3):c.977G>A (p.Arg326Lys)
|
rs1718953951
|
0.00001
|
NM_006280.3(SSR4):c.194C>T (p.Ala65Val)
|
rs781822476
|
0.00001
|
NM_006942.2(SOX15):c.*175G>A
|
rs554187980
|
0.00001
|
NM_012463.4(ATP6V0A2):c.1038+19C>T
|
rs748475567
|
0.00001
|
NM_012463.4(ATP6V0A2):c.1057A>G (p.Ile353Val)
|
rs374873455
|
0.00001
|
NM_012463.4(ATP6V0A2):c.1099C>G (p.Pro367Ala)
|
rs147833091
|
0.00001
|
NM_012463.4(ATP6V0A2):c.1120A>G (p.Lys374Glu)
|
rs201857139
|
0.00001
|
NM_012463.4(ATP6V0A2):c.1126A>G (p.Thr376Ala)
|
rs1381866878
|
0.00001
|
NM_012463.4(ATP6V0A2):c.1158T>C (p.Tyr386=)
|
rs751710968
|
0.00001
|
NM_012463.4(ATP6V0A2):c.1247G>A (p.Gly416Glu)
|
rs770611939
|
0.00001
|
NM_012463.4(ATP6V0A2):c.1323A>G (p.Gln441=)
|
rs985944979
|
0.00001
|
NM_012463.4(ATP6V0A2):c.1351C>T (p.Arg451Trp)
|
rs907470146
|
0.00001
|
NM_012463.4(ATP6V0A2):c.1432C>G (p.Leu478Val)
|
rs1193899105
|
0.00001
|
NM_012463.4(ATP6V0A2):c.1452C>T (p.Asn484=)
|
rs567406924
|
0.00001
|
NM_012463.4(ATP6V0A2):c.1468A>G (p.Ser490Gly)
|
rs761024266
|
0.00001
|
NM_012463.4(ATP6V0A2):c.1514+1G>A
|
rs374480381
|
0.00001
|
NM_012463.4(ATP6V0A2):c.1605+13C>T
|
rs1031913267
|
0.00001
|
NM_012463.4(ATP6V0A2):c.1724+20T>A
|
rs778282853
|
0.00001
|
NM_012463.4(ATP6V0A2):c.1822A>G (p.Lys608Glu)
|
rs942181771
|
0.00001
|
NM_012463.4(ATP6V0A2):c.187C>T (p.Arg63Ter)
|
rs80356750
|
0.00001
|
NM_012463.4(ATP6V0A2):c.18G>A (p.Arg6=)
|
rs1274398806
|
0.00001
|
NM_012463.4(ATP6V0A2):c.2005C>G (p.Leu669Val)
|
rs374410950
|
0.00001
|
NM_012463.4(ATP6V0A2):c.2044G>A (p.Gly682Arg)
|
rs766998428
|
0.00001
|
NM_012463.4(ATP6V0A2):c.2116G>A (p.Asp706Asn)
|
rs777130500
|
0.00001
|
NM_012463.4(ATP6V0A2):c.2293+1G>A
|
rs750984566
|
0.00001
|
NM_012463.4(ATP6V0A2):c.2294-4G>A
|
rs551697992
|
0.00001
|
NM_012463.4(ATP6V0A2):c.2335C>G (p.Leu779Val)
|
rs1289485537
|
0.00001
|
NM_012463.4(ATP6V0A2):c.2354A>G (p.Tyr785Cys)
|
rs1300082047
|
0.00001
|
NM_012463.4(ATP6V0A2):c.2469A>G (p.Val823=)
|
rs775830030
|
0.00001
|
NM_012463.4(ATP6V0A2):c.291G>A (p.Met97Ile)
|
rs1247351393
|
0.00001
|
NM_012463.4(ATP6V0A2):c.33C>T (p.Cys11=)
|
rs1485624455
|
0.00001
|
NM_012463.4(ATP6V0A2):c.745G>A (p.Val249Met)
|
rs879082266
|
0.00001
|
NM_012463.4(ATP6V0A2):c.764C>T (p.Thr255Ile)
|
rs369952560
|
0.00001
|
NM_012463.4(ATP6V0A2):c.794G>A (p.Gly265Glu)
|
rs571403150
|
0.00001
|
NM_012463.4(ATP6V0A2):c.795G>A (p.Gly265=)
|
rs754399086
|
0.00001
|
NM_012463.4(ATP6V0A2):c.818T>G (p.Leu273Arg)
|
rs946611542
|
0.00001
|
NM_012463.4(ATP6V0A2):c.819C>G (p.Leu273=)
|
rs760832828
|
0.00001
|
NM_012463.4(ATP6V0A2):c.853A>C (p.Arg285=)
|
rs776563027
|
0.00001
|
NM_012463.4(ATP6V0A2):c.887A>G (p.Tyr296Cys)
|
rs753314616
|
0.00001
|
NM_012463.4(ATP6V0A2):c.997G>C (p.Ala333Pro)
|
rs773660973
|
0.00001
|
NM_013339.4(ALG6):c.*1464A>C
|
rs1316941453
|
0.00001
|
NM_013339.4(ALG6):c.*152T>C
|
rs886046473
|
0.00001
|
NM_013339.4(ALG6):c.*174A>G
|
rs886046474
|
0.00001
|
NM_013339.4(ALG6):c.*436T>C
|
rs550372028
|
0.00001
|
NM_013339.4(ALG6):c.1005A>G (p.Ser335=)
|
rs146094200
|
0.00001
|
NM_013339.4(ALG6):c.101T>C (p.Met34Thr)
|
rs750689981
|
0.00001
|
NM_013339.4(ALG6):c.1029A>G (p.Val343=)
|
rs776279526
|
0.00001
|
NM_013339.4(ALG6):c.1059-8G>T
|
rs755900020
|
0.00001
|
NM_013339.4(ALG6):c.1092T>C (p.Phe364=)
|
rs751867296
|
0.00001
|
NM_013339.4(ALG6):c.1116G>A (p.Val372=)
|
rs774866544
|
0.00001
|
NM_013339.4(ALG6):c.1127+12C>A
|
rs539762580
|
0.00001
|
NM_013339.4(ALG6):c.1128-11T>C
|
rs760830321
|
0.00001
|
NM_013339.4(ALG6):c.1128-18A>T
|
rs1057523181
|
0.00001
|
NM_013339.4(ALG6):c.1129A>G (p.Met377Val)
|
rs934616664
|
0.00001
|
NM_013339.4(ALG6):c.1135C>T (p.Pro379Ser)
|
rs150976885
|
0.00001
|
NM_013339.4(ALG6):c.1138C>A (p.Leu380Ile)
|
rs1461862944
|
0.00001
|
NM_013339.4(ALG6):c.1173T>G (p.Val391=)
|
rs759859422
|
0.00001
|
NM_013339.4(ALG6):c.1204G>A (p.Val402Ile)
|
rs1212756714
|
0.00001
|
NM_013339.4(ALG6):c.1275G>A (p.Val425=)
|
rs1455501558
|
0.00001
|
NM_013339.4(ALG6):c.1319A>G (p.Gln440Arg)
|
rs1475278999
|
0.00001
|
NM_013339.4(ALG6):c.1320A>G (p.Gln440=)
|
rs137918665
|
0.00001
|
NM_013339.4(ALG6):c.1326+6T>A
|
rs765364882
|
0.00001
|
NM_013339.4(ALG6):c.1327-16C>T
|
rs1479573763
|
0.00001
|
NM_013339.4(ALG6):c.1327-4G>A
|
rs1395718435
|
0.00001
|
NM_013339.4(ALG6):c.1341C>T (p.Val447=)
|
rs777326636
|
0.00001
|
NM_013339.4(ALG6):c.1353G>C (p.Val451=)
|
rs1346474951
|
0.00001
|
NM_013339.4(ALG6):c.1365G>A (p.Leu455=)
|
rs772957444
|
0.00001
|
NM_013339.4(ALG6):c.1366A>G (p.Met456Val)
|
rs1463890121
|
0.00001
|
NM_013339.4(ALG6):c.1399C>T (p.Pro467Ser)
|
rs752244400
|
0.00001
|
NM_013339.4(ALG6):c.1400C>T (p.Pro467Leu)
|
rs548994709
|
0.00001
|
NM_013339.4(ALG6):c.1401G>A (p.Pro467=)
|
rs149524560
|
0.00001
|
NM_013339.4(ALG6):c.1422G>A (p.Val474=)
|
rs1644682242
|
0.00001
|
NM_013339.4(ALG6):c.1444T>G (p.Phe482Val)
|
rs1215619833
|
0.00001
|
NM_013339.4(ALG6):c.1451T>A (p.Phe484Tyr)
|
rs749363896
|
0.00001
|
NM_013339.4(ALG6):c.1456T>G (p.Leu486Val)
|
rs1274029656
|
0.00001
|
NM_013339.4(ALG6):c.1509G>A (p.Gln503=)
|
rs368314781
|
0.00001
|
NM_013339.4(ALG6):c.150T>C (p.Asn50=)
|
rs752563803
|
0.00001
|
NM_013339.4(ALG6):c.1524del (p.Ter508TyrextTer?)
|
rs759636698
|
0.00001
|
NM_013339.4(ALG6):c.155C>T (p.Pro52Leu)
|
rs201074540
|
0.00001
|
NM_013339.4(ALG6):c.167+8A>G
|
rs902593542
|
0.00001
|
NM_013339.4(ALG6):c.168-15T>A
|
rs1213992277
|
0.00001
|
NM_013339.4(ALG6):c.208T>C (p.Leu70=)
|
rs748752494
|
0.00001
|
NM_013339.4(ALG6):c.213T>C (p.Asp71=)
|
rs1440836116
|
0.00001
|
NM_013339.4(ALG6):c.219A>T (p.Pro73=)
|
rs187446493
|
0.00001
|
NM_013339.4(ALG6):c.237T>G (p.His79Gln)
|
rs747184607
|
0.00001
|
NM_013339.4(ALG6):c.250G>A (p.Ala84Thr)
|
rs762643273
|
0.00001
|
NM_013339.4(ALG6):c.258-15T>C
|
rs1427230309
|
0.00001
|
NM_013339.4(ALG6):c.258-4G>C
|
rs376611585
|
0.00001
|
NM_013339.4(ALG6):c.26T>C (p.Val9Ala)
|
rs1456036206
|
0.00001
|
NM_013339.4(ALG6):c.294T>C (p.His98=)
|
rs1644480931
|
0.00001
|
NM_013339.4(ALG6):c.2T>C (p.Met1Thr)
|
rs1387214955
|
0.00001
|
NM_013339.4(ALG6):c.302G>A (p.Arg101His)
|
rs760245924
|
0.00001
|
NM_013339.4(ALG6):c.321A>G (p.Ala107=)
|
rs766050737
|
0.00001
|
NM_013339.4(ALG6):c.328C>G (p.Leu110Val)
|
rs753362025
|
0.00001
|
NM_013339.4(ALG6):c.342A>C (p.Thr114=)
|
rs113591571
|
0.00001
|
NM_013339.4(ALG6):c.347-18A>G
|
rs1388308664
|
0.00001
|
NM_013339.4(ALG6):c.366G>C (p.Leu122=)
|
rs1368717618
|
0.00001
|
NM_013339.4(ALG6):c.37A>C (p.Ile13Leu)
|
rs1407217511
|
0.00001
|
NM_013339.4(ALG6):c.429+1G>T
|
rs781097055
|
0.00001
|
NM_013339.4(ALG6):c.429+7T>G
|
rs1179620229
|
0.00001
|
NM_013339.4(ALG6):c.430-9T>G
|
rs769256352
|
0.00001
|
NM_013339.4(ALG6):c.447C>T (p.Cys149=)
|
rs1251724917
|
0.00001
|
NM_013339.4(ALG6):c.470T>G (p.Ile157Ser)
|
rs768049817
|
0.00001
|
NM_013339.4(ALG6):c.475A>G (p.Ile159Val)
|
rs531362960
|
0.00001
|
NM_013339.4(ALG6):c.476T>C (p.Ile159Thr)
|
rs1037253381
|
0.00001
|
NM_013339.4(ALG6):c.480C>T (p.Asp160=)
|
rs1368642972
|
0.00001
|
NM_013339.4(ALG6):c.483T>C (p.Tyr161=)
|
rs1275254106
|
0.00001
|
NM_013339.4(ALG6):c.494+15T>C
|
rs777671830
|
0.00001
|
NM_013339.4(ALG6):c.495-14T>G
|
rs1434021697
|
0.00001
|
NM_013339.4(ALG6):c.495-2A>G
|
rs1227131990
|
0.00001
|
NM_013339.4(ALG6):c.510del (p.Gly172fs)
|
rs773277552
|
0.00001
|
NM_013339.4(ALG6):c.529G>A (p.Gly177Ser)
|
rs1250215676
|
0.00001
|
NM_013339.4(ALG6):c.574G>A (p.Ala192Thr)
|
rs878890161
|
0.00001
|
NM_013339.4(ALG6):c.591A>G (p.Ile197Met)
|
rs753024606
|
0.00001
|
NM_013339.4(ALG6):c.630T>C (p.Phe210=)
|
rs1231951186
|
0.00001
|
NM_013339.4(ALG6):c.648C>G (p.Gly216=)
|
rs1270440540
|
0.00001
|
NM_013339.4(ALG6):c.671A>G (p.Lys224Arg)
|
rs140879997
|
0.00001
|
NM_013339.4(ALG6):c.680+14A>T
|
rs531280238
|
0.00001
|
NM_013339.4(ALG6):c.680+1G>A
|
rs1253289234
|
0.00001
|
NM_013339.4(ALG6):c.680+2T>G
|
rs868768232
|
0.00001
|
NM_013339.4(ALG6):c.680G>A (p.Gly227Glu)
|
rs372079206
|
0.00001
|
NM_013339.4(ALG6):c.681-8T>G
|
rs754415021
|
0.00001
|
NM_013339.4(ALG6):c.693A>G (p.Leu231=)
|
rs777520437
|
0.00001
|
NM_013339.4(ALG6):c.735C>T (p.Cys245=)
|
rs1193951173
|
0.00001
|
NM_013339.4(ALG6):c.795G>A (p.Pro265=)
|
rs144939122
|
0.00001
|
NM_013339.4(ALG6):c.798T>G (p.Val266=)
|
rs1644519075
|
0.00001
|
NM_013339.4(ALG6):c.816+4T>C
|
rs762931650
|
0.00001
|
NM_013339.4(ALG6):c.828C>G (p.Ala276=)
|
rs1325407009
|
0.00001
|
NM_013339.4(ALG6):c.862A>G (p.Ile288Val)
|
rs557790186
|
0.00001
|
NM_013339.4(ALG6):c.886A>G (p.Ile296Val)
|
rs1450720827
|
0.00001
|
NM_013339.4(ALG6):c.891A>G (p.Gln297=)
|
rs759310974
|
0.00001
|
NM_013339.4(ALG6):c.902+15G>A
|
rs1335275470
|
0.00001
|
NM_013339.4(ALG6):c.90T>C (p.Gly30=)
|
rs768726497
|
0.00001
|
NM_013339.4(ALG6):c.914C>T (p.Thr305Met)
|
rs546145736
|
0.00001
|
NM_013339.4(ALG6):c.925C>T (p.Leu309=)
|
rs1311428677
|
0.00001
|
NM_013339.4(ALG6):c.987+12A>G
|
rs758406155
|
0.00001
|
NM_013339.4(ALG6):c.997G>C (p.Ala333Pro)
|
rs1212125571
|
0.00001
|
NM_014908.3(DOLK):c.-335G>C
|
rs543331952
|
0.00001
|
NM_014908.3(DOLK):c.-394A>G
|
rs750538185
|
0.00001
|
NM_014908.4(DOLK):c.-149G>A
|
rs886063515
|
0.00001
|
NM_014908.4(DOLK):c.1010G>A (p.Arg337Gln)
|
rs759025031
|
0.00001
|
NM_014908.4(DOLK):c.1065C>G (p.Asp355Glu)
|
rs371882757
|
0.00001
|
NM_014908.4(DOLK):c.1068G>A (p.Arg356=)
|
rs371490482
|
0.00001
|
NM_014908.4(DOLK):c.1092T>G (p.Thr364=)
|
rs1280785615
|
0.00001
|
NM_014908.4(DOLK):c.1098C>T (p.Cys366=)
|
rs1588262054
|
0.00001
|
NM_014908.4(DOLK):c.1107C>T (p.Val369=)
|
rs759148554
|
0.00001
|
NM_014908.4(DOLK):c.1129C>T (p.Arg377Cys)
|
rs868232833
|
0.00001
|
NM_014908.4(DOLK):c.1143C>T (p.Ile381=)
|
rs750733060
|
0.00001
|
NM_014908.4(DOLK):c.1159A>G (p.Thr387Ala)
|
rs747285047
|
0.00001
|
NM_014908.4(DOLK):c.1167G>C (p.Arg389=)
|
rs1475563721
|
0.00001
|
NM_014908.4(DOLK):c.1176G>A (p.Leu392=)
|
rs1229430506
|
0.00001
|
NM_014908.4(DOLK):c.1178C>T (p.Ser393Phe)
|
rs982668501
|
0.00001
|
NM_014908.4(DOLK):c.1190A>G (p.Asp397Gly)
|
rs753795845
|
0.00001
|
NM_014908.4(DOLK):c.1196G>A (p.Arg399Gln)
|
rs748688866
|
0.00001
|
NM_014908.4(DOLK):c.1249C>T (p.Leu417Phe)
|
rs771007659
|
0.00001
|
NM_014908.4(DOLK):c.128C>T (p.Ser43Leu)
|
rs1352546858
|
0.00001
|
NM_014908.4(DOLK):c.1303G>C (p.Ala435Pro)
|
rs1306365829
|
0.00001
|
NM_014908.4(DOLK):c.1312C>T (p.Leu438Phe)
|
rs112448460
|
0.00001
|
NM_014908.4(DOLK):c.1357G>C (p.Val453Leu)
|
rs1294479059
|
0.00001
|
NM_014908.4(DOLK):c.1372G>A (p.Gly458Ser)
|
rs748468540
|
0.00001
|
NM_014908.4(DOLK):c.1373G>T (p.Gly458Val)
|
rs999023298
|
0.00001
|
NM_014908.4(DOLK):c.1413G>C (p.Lys471Asn)
|
rs1336940137
|
0.00001
|
NM_014908.4(DOLK):c.1419T>G (p.Phe473Leu)
|
rs780799327
|
0.00001
|
NM_014908.4(DOLK):c.1434A>G (p.Thr478=)
|
rs536315251
|
0.00001
|
NM_014908.4(DOLK):c.1445C>T (p.Ala482Val)
|
rs767693634
|
0.00001
|
NM_014908.4(DOLK):c.1467G>T (p.Leu489=)
|
rs955285603
|
0.00001
|
NM_014908.4(DOLK):c.1535C>T (p.Thr512Ile)
|
rs1166313359
|
0.00001
|
NM_014908.4(DOLK):c.1541C>G (p.Ser514Cys)
|
rs537893599
|
0.00001
|
NM_014908.4(DOLK):c.1579C>T (p.Leu527Phe)
|
rs1841648949
|
0.00001
|
NM_014908.4(DOLK):c.1594C>T (p.Leu532Phe)
|
rs140350881
|
0.00001
|
NM_014908.4(DOLK):c.172T>G (p.Tyr58Asp)
|
rs1403792413
|
0.00001
|
NM_014908.4(DOLK):c.175A>G (p.Lys59Glu)
|
rs771383826
|
0.00001
|
NM_014908.4(DOLK):c.184C>A (p.Arg62=)
|
rs533764998
|
0.00001
|
NM_014908.4(DOLK):c.187C>G (p.Leu63Val)
|
rs1385561774
|
0.00001
|
NM_014908.4(DOLK):c.194A>G (p.Gln65Arg)
|
rs754744977
|
0.00001
|
NM_014908.4(DOLK):c.203G>T (p.Ser68Ile)
|
rs753603168
|
0.00001
|
NM_014908.4(DOLK):c.216G>T (p.Gln72His)
|
rs767180137
|
0.00001
|
NM_014908.4(DOLK):c.24G>A (p.Pro8=)
|
rs746403097
|
0.00001
|
NM_014908.4(DOLK):c.266C>T (p.Pro89Leu)
|
rs1310123344
|
0.00001
|
NM_014908.4(DOLK):c.288G>A (p.Lys96=)
|
rs771259120
|
0.00001
|
NM_014908.4(DOLK):c.292C>T (p.Arg98Trp)
|
rs747555089
|
0.00001
|
NM_014908.4(DOLK):c.374del (p.Ser125fs)
|
rs1156844272
|
0.00001
|
NM_014908.4(DOLK):c.401G>A (p.Arg134His)
|
rs768596252
|
0.00001
|
NM_014908.4(DOLK):c.432G>C (p.Leu144Phe)
|
rs780422418
|
0.00001
|
NM_014908.4(DOLK):c.448G>T (p.Val150Phe)
|
rs900642092
|
0.00001
|
NM_014908.4(DOLK):c.453C>T (p.Ile151=)
|
rs1249767230
|
0.00001
|
NM_014908.4(DOLK):c.463A>T (p.Met155Leu)
|
rs1218829181
|
0.00001
|
NM_014908.4(DOLK):c.472T>A (p.Ser158Thr)
|
rs1246967572
|
0.00001
|
NM_014908.4(DOLK):c.489G>T (p.Glu163Asp)
|
rs1329633231
|
0.00001
|
NM_014908.4(DOLK):c.48G>C (p.Leu16=)
|
rs1841690217
|
0.00001
|
NM_014908.4(DOLK):c.493A>G (p.Ile165Val)
|
rs762432181
|
0.00001
|
NM_014908.4(DOLK):c.501C>T (p.Val167=)
|
rs372024402
|
0.00001
|
NM_014908.4(DOLK):c.513T>C (p.Leu171=)
|
rs886063514
|
0.00001
|
NM_014908.4(DOLK):c.523G>A (p.Val175Ile)
|
rs145177598
|
0.00001
|
NM_014908.4(DOLK):c.534C>A (p.Asn178Lys)
|
rs1201588280
|
0.00001
|
NM_014908.4(DOLK):c.560G>T (p.Arg187Leu)
|
rs377658203
|
0.00001
|
NM_014908.4(DOLK):c.581C>T (p.Ala194Val)
|
rs763132281
|
0.00001
|
NM_014908.4(DOLK):c.603T>G (p.Ile201Met)
|
rs765382712
|
0.00001
|
NM_014908.4(DOLK):c.679C>T (p.Leu227=)
|
rs751806411
|
0.00001
|
NM_014908.4(DOLK):c.703G>A (p.Val235Ile)
|
rs759019995
|
0.00001
|
NM_014908.4(DOLK):c.710T>C (p.Met237Thr)
|
rs201363976
|
0.00001
|
NM_014908.4(DOLK):c.719T>C (p.Phe240Ser)
|
rs765475110
|
0.00001
|
NM_014908.4(DOLK):c.725G>A (p.Ser242Asn)
|
rs876657786
|
0.00001
|
NM_014908.4(DOLK):c.73G>A (p.Ala25Thr)
|
rs764980710
|
0.00001
|
NM_014908.4(DOLK):c.767C>T (p.Ser256Phe)
|
rs1186154711
|
0.00001
|
NM_014908.4(DOLK):c.843G>A (p.Arg281=)
|
rs1430371382
|
0.00001
|
NM_014908.4(DOLK):c.86C>T (p.Ala29Val)
|
rs1401208309
|
0.00001
|
NM_014908.4(DOLK):c.888C>G (p.Thr296=)
|
rs1841669182
|
0.00001
|
NM_014908.4(DOLK):c.894C>T (p.Ile298=)
|
rs554098531
|
0.00001
|
NM_014908.4(DOLK):c.906C>T (p.Ala302=)
|
rs745571625
|
0.00001
|
NM_014908.4(DOLK):c.908A>G (p.Tyr303Cys)
|
rs780974264
|
0.00001
|
NM_014908.4(DOLK):c.909T>C (p.Tyr303=)
|
rs1244007975
|
0.00001
|
NM_014908.4(DOLK):c.90G>A (p.Val30=)
|
rs766960135
|
0.00001
|
NM_014908.4(DOLK):c.910T>C (p.Trp304Arg)
|
rs1413752276
|
0.00001
|
NM_014908.4(DOLK):c.916C>T (p.Leu306=)
|
rs1290357070
|
0.00001
|
NM_014908.4(DOLK):c.94C>T (p.Leu32=)
|
rs760999273
|
0.00001
|
NM_014908.4(DOLK):c.964C>T (p.Arg322Trp)
|
rs1350623268
|
0.00001
|
NM_014908.4(DOLK):c.967T>C (p.Ser323Pro)
|
rs750702584
|
0.00001
|
NM_014908.4(DOLK):c.999C>T (p.Pro333=)
|
rs764117689
|
0.00001
|
NM_019109.5(ALG1):c.1023C>T (p.Ile341=)
|
rs1254998724
|
0.00001
|
NM_019109.5(ALG1):c.1029C>G (p.Val343=)
|
rs1454696330
|
0.00001
|
NM_019109.5(ALG1):c.1032C>T (p.Cys344=)
|
rs745523769
|
0.00001
|
NM_019109.5(ALG1):c.1060C>T (p.Pro354Ser)
|
rs983547319
|
0.00001
|
NM_019109.5(ALG1):c.1072+14A>G
|
rs1320606156
|
0.00001
|
NM_019109.5(ALG1):c.1079C>T (p.Ala360Val)
|
rs398124348
|
0.00001
|
NM_019109.5(ALG1):c.1084C>T (p.Leu362=)
|
rs1366814290
|
0.00001
|
NM_019109.5(ALG1):c.1101C>T (p.His367=)
|
rs1428414601
|
0.00001
|
NM_019109.5(ALG1):c.1103C>T (p.Thr368Met)
|
rs762385611
|
0.00001
|
NM_019109.5(ALG1):c.1104G>A (p.Thr368=)
|
rs1315375927
|
0.00001
|
NM_019109.5(ALG1):c.1129A>G (p.Met377Val)
|
rs387906925
|
0.00001
|
NM_019109.5(ALG1):c.1146G>A (p.Met382Ile)
|
rs778368053
|
0.00001
|
NM_019109.5(ALG1):c.1185G>C (p.Lys395Asn)
|
rs1308517122
|
0.00001
|
NM_019109.5(ALG1):c.1263+8C>T
|
rs1442144835
|
0.00001
|
NM_019109.5(ALG1):c.126C>T (p.Asp42=)
|
rs1203067807
|
0.00001
|
NM_019109.5(ALG1):c.1282C>A (p.Pro428Thr)
|
rs1413293071
|
0.00001
|
NM_019109.5(ALG1):c.1293G>A (p.Ala431=)
|
rs1047714
|
0.00001
|
NM_019109.5(ALG1):c.1312C>T (p.Arg438Trp)
|
rs16835020
|
0.00001
|
NM_019109.5(ALG1):c.1316A>G (p.Lys439Arg)
|
rs1281758881
|
0.00001
|
NM_019109.5(ALG1):c.1360G>A (p.Val454Met)
|
rs1957095896
|
0.00001
|
NM_019109.5(ALG1):c.1374C>T (p.Leu458=)
|
rs776869363
|
0.00001
|
NM_019109.5(ALG1):c.138C>T (p.Ser46=)
|
rs148665912
|
0.00001
|
NM_019109.5(ALG1):c.142C>T
|
rs1051082443
|
0.00001
|
NM_019109.5(ALG1):c.159G>C (p.Ala53=)
|
rs776772780
|
0.00001
|
NM_019109.5(ALG1):c.201G>A (p.Gly67=)
|
rs1377122958
|
0.00001
|
NM_019109.5(ALG1):c.203T>A (p.Phe68Tyr)
|
rs1314923558
|
0.00001
|
NM_019109.5(ALG1):c.208+13G>A
|
rs794726945
|
0.00001
|
NM_019109.5(ALG1):c.219C>G (p.Pro73=)
|
rs776610922
|
0.00001
|
NM_019109.5(ALG1):c.22C>T (p.Leu8=)
|
rs144712188
|
0.00001
|
NM_019109.5(ALG1):c.259G>C (p.Gly87Arg)
|
rs187287792
|
0.00001
|
NM_019109.5(ALG1):c.262T>G (p.Leu88Val)
|
rs794727301
|
0.00001
|
NM_019109.5(ALG1):c.287T>C (p.Val96Ala)
|
rs534863399
|
0.00001
|
NM_019109.5(ALG1):c.295C>T (p.Arg99Ter)
|
rs750451819
|
0.00001
|
NM_019109.5(ALG1):c.296G>A (p.Arg99Gln)
|
rs1349600746
|
0.00001
|
NM_019109.5(ALG1):c.342G>A (p.Leu114=)
|
rs1596252196
|
0.00001
|
NM_019109.5(ALG1):c.377A>G (p.Tyr126Cys)
|
rs200094659
|
0.00001
|
NM_019109.5(ALG1):c.391-13C>G
|
rs768190163
|
0.00001
|
NM_019109.5(ALG1):c.399A>C (p.Pro133=)
|
rs200506666
|
0.00001
|
NM_019109.5(ALG1):c.443G>T (p.Cys148Phe)
|
rs767756401
|
0.00001
|
NM_019109.5(ALG1):c.450C>G (p.Ser150Arg)
|
rs121908340
|
0.00001
|
NM_019109.5(ALG1):c.516T>G (p.His172Gln)
|
rs1310088513
|
0.00001
|
NM_019109.5(ALG1):c.540-15G>C
|
rs1234821941
|
0.00001
|
NM_019109.5(ALG1):c.540-7T>G
|
rs1475479052
|
0.00001
|
NM_019109.5(ALG1):c.543C>T (p.Tyr181=)
|
rs375670899
|
0.00001
|
NM_019109.5(ALG1):c.575A>G (p.Asn192Ser)
|
rs760563077
|
0.00001
|
NM_019109.5(ALG1):c.590A>G (p.Asn197Ser)
|
rs780593921
|
0.00001
|
NM_019109.5(ALG1):c.598C>T (p.Arg200Ter)
|
rs1474783444
|
0.00001
|
NM_019109.5(ALG1):c.599G>A (p.Arg200Gln)
|
rs199674071
|
0.00001
|
NM_019109.5(ALG1):c.621G>A (p.Trp207Ter)
|
rs1956935335
|
0.00001
|
NM_019109.5(ALG1):c.630-10T>A
|
rs774092984
|
0.00001
|
NM_019109.5(ALG1):c.652C>T (p.Pro218Ser)
|
rs528261173
|
0.00001
|
NM_019109.5(ALG1):c.70A>G (p.Lys24Glu)
|
rs1386626500
|
0.00001
|
NM_019109.5(ALG1):c.729G>T (p.Pro243=)
|
rs539568048
|
0.00001
|
NM_019109.5(ALG1):c.741-17T>C
|
rs757946127
|
0.00001
|
NM_019109.5(ALG1):c.748C>T (p.Pro250Ser)
|
rs1263087642
|
0.00001
|
NM_019109.5(ALG1):c.75C>G (p.Arg25=)
|
rs369610043
|
0.00001
|
NM_019109.5(ALG1):c.765G>A (p.Thr255=)
|
rs763065965
|
0.00001
|
NM_019109.5(ALG1):c.782C>T (p.Thr261Met)
|
rs534622519
|
0.00001
|
NM_019109.5(ALG1):c.823G>T (p.Glu275Ter)
|
rs1372794201
|
0.00001
|
NM_019109.5(ALG1):c.863-14T>C
|
rs780024263
|
0.00001
|
NM_019109.5(ALG1):c.863-2A>G
|
rs768733117
|
0.00001
|
NM_019109.5(ALG1):c.866A>G (p.Asp289Gly)
|
rs1180515976
|
0.00001
|
NM_019109.5(ALG1):c.886C>T (p.Leu296=)
|
rs760271727
|
0.00001
|
NM_019109.5(ALG1):c.899A>G (p.Glu300Gly)
|
rs1234795312
|
0.00001
|
NM_019109.5(ALG1):c.901+1G>A
|
rs1227251669
|
0.00001
|
NM_019109.5(ALG1):c.902-12T>A
|
rs781282806
|
0.00001
|
NM_019109.5(ALG1):c.961+6G>T
|
rs1304012856
|
0.00001
|
NM_019109.5(ALG1):c.962-20G>A
|
rs748104106
|
0.00001
|
NM_019109.5(ALG1):c.978G>A (p.Arg326=)
|
rs746218352
|
0.00001
|
NM_021645.6(UTP14C):c.276C>T (p.Pro92=)
|
rs144836764
|
0.00001
|
NM_021645.6(UTP14C):c.575A>G (p.His192Arg)
|
rs978706850
|
0.00001
|
NM_021645.6(UTP14C):c.63G>T (p.Leu21Phe)
|
rs775998263
|
0.00001
|
NM_024079.5(ALG8):c.1256C>T (p.Pro419Leu)
|
rs1859926872
|
0.00001
|
NM_024079.5(ALG8):c.1276+10G>A
|
rs531081999
|
0.00001
|
NM_024079.5(ALG8):c.1460A>G (p.Tyr487Cys)
|
rs777557874
|
0.00001
|
NM_024079.5(ALG8):c.1491G>A (p.Val497=)
|
rs766871884
|
0.00001
|
NM_024079.5(ALG8):c.1556C>T (p.Ala519Val)
|
rs990677542
|
0.00001
|
NM_024079.5(ALG8):c.1578A>G (p.Gln526=)
|
rs479612
|
0.00001
|
NM_024079.5(ALG8):c.32G>C (p.Gly11Ala)
|
rs538716086
|
0.00001
|
NM_024079.5(ALG8):c.346C>T (p.Leu116Phe)
|
rs1401833410
|
0.00001
|
NM_024079.5(ALG8):c.368+2T>G
|
rs756894409
|
0.00001
|
NM_024079.5(ALG8):c.36T>C (p.Asn12=)
|
rs1179361051
|
0.00001
|
NM_024079.5(ALG8):c.382A>G (p.Ile128Val)
|
rs111831728
|
0.00001
|
NM_024079.5(ALG8):c.439G>T (p.Val147Leu)
|
rs748027702
|
0.00001
|
NM_024079.5(ALG8):c.479-3C>G
|
rs753257659
|
0.00001
|
NM_024079.5(ALG8):c.546+12T>G
|
rs1169043575
|
0.00001
|
NM_024079.5(ALG8):c.623C>T (p.Ala208Val)
|
rs886048688
|
0.00001
|
NM_024079.5(ALG8):c.678G>T (p.Gly226=)
|
rs754476593
|
0.00001
|
NM_024079.5(ALG8):c.802C>T (p.Arg268Ter)
|
rs772492143
|
0.00001
|
NM_024079.5(ALG8):c.86T>C (p.Ile29Thr)
|
rs1276719307
|
0.00001
|
NM_024079.5(ALG8):c.95+1G>A
|
rs1323512637
|
0.00001
|
NM_024079.5(ALG8):c.981dup (p.Val328fs)
|
rs777686455
|
0.00001
|
NM_024105.4(ALG12):c.*354G>A
|
rs769523769
|
0.00001
|
NM_024105.4(ALG12):c.-79+3C>T
|
rs886057616
|
0.00001
|
NM_024105.4(ALG12):c.1043T>G (p.Val348Gly)
|
rs747813537
|
0.00001
|
NM_024105.4(ALG12):c.1048G>A (p.Gly350Arg)
|
rs377095724
|
0.00001
|
NM_024105.4(ALG12):c.1120G>A (p.Val374Ile)
|
rs761515996
|
0.00001
|
NM_024105.4(ALG12):c.117G>A (p.Leu39=)
|
rs371814322
|
0.00001
|
NM_024105.4(ALG12):c.117del (p.Gln40fs)
|
rs761221480
|
0.00001
|
NM_024105.4(ALG12):c.1182C>T (p.Asp394=)
|
rs766969187
|
0.00001
|
NM_024105.4(ALG12):c.1224C>A (p.Val408=)
|
rs146341718
|
0.00001
|
NM_024105.4(ALG12):c.1230C>T (p.Ser410=)
|
rs779189579
|
0.00001
|
NM_024105.4(ALG12):c.1246_1247del (p.Lys416fs)
|
rs746988876
|
0.00001
|
NM_024105.4(ALG12):c.1265C>T (p.Pro422Leu)
|
rs759794733
|
0.00001
|
NM_024105.4(ALG12):c.1320C>G (p.Leu440=)
|
rs2060528558
|
0.00001
|
NM_024105.4(ALG12):c.1339A>G (p.Thr447Ala)
|
rs996114708
|
0.00001
|
NM_024105.4(ALG12):c.1359C>T (p.Ser453=)
|
rs762256657
|
0.00001
|
NM_024105.4(ALG12):c.1389C>A (p.Asn463Lys)
|
rs745510179
|
0.00001
|
NM_024105.4(ALG12):c.1390C>T (p.Leu464=)
|
rs546031490
|
0.00001
|
NM_024105.4(ALG12):c.1411A>G (p.Asn471Asp)
|
rs2060527901
|
0.00001
|
NM_024105.4(ALG12):c.1446G>C (p.Glu482Asp)
|
rs1569172835
|
0.00001
|
NM_024105.4(ALG12):c.1449G>A (p.Arg483=)
|
rs886057613
|
0.00001
|
NM_024105.4(ALG12):c.1460C>T (p.Pro487Leu)
|
rs778688714
|
0.00001
|
NM_024105.4(ALG12):c.162+16T>G
|
rs200452706
|
0.00001
|
NM_024105.4(ALG12):c.162+19C>T
|
rs777484585
|
0.00001
|
NM_024105.4(ALG12):c.163-16G>C
|
rs2060592313
|
0.00001
|
NM_024105.4(ALG12):c.223G>A (p.Ala75Thr)
|
rs761301009
|
0.00001
|
NM_024105.4(ALG12):c.258G>A (p.Ser86=)
|
rs141223868
|
0.00001
|
NM_024105.4(ALG12):c.296-15A>G
|
rs749576773
|
0.00001
|
NM_024105.4(ALG12):c.296-19T>G
|
rs757545642
|
0.00001
|
NM_024105.4(ALG12):c.301G>A (p.Gly101Arg)
|
rs121907933
|
0.00001
|
NM_024105.4(ALG12):c.327T>G (p.Phe109Leu)
|
rs886057614
|
0.00001
|
NM_024105.4(ALG12):c.333C>T (p.Leu111=)
|
rs776257312
|
0.00001
|
NM_024105.4(ALG12):c.339G>A (p.Thr113=)
|
rs768442865
|
0.00001
|
NM_024105.4(ALG12):c.366C>T (p.Phe122=)
|
rs1015611771
|
0.00001
|
NM_024105.4(ALG12):c.367G>A (p.Gly123Arg)
|
rs1555930118
|
0.00001
|
NM_024105.4(ALG12):c.377T>G (p.Val126Gly)
|
rs556496917
|
0.00001
|
NM_024105.4(ALG12):c.390C>G (p.Phe130Leu)
|
rs1010347575
|
0.00001
|
NM_024105.4(ALG12):c.415C>T (p.His139Tyr)
|
rs200490756
|
0.00001
|
NM_024105.4(ALG12):c.449A>G (p.Asn150Ser)
|
rs2060570009
|
0.00001
|
NM_024105.4(ALG12):c.469+18G>A
|
rs767540166
|
0.00001
|
NM_024105.4(ALG12):c.476T>G (p.Leu159Arg)
|
rs1410146441
|
0.00001
|
NM_024105.4(ALG12):c.508G>A (p.Ala170Thr)
|
rs751491422
|
0.00001
|
NM_024105.4(ALG12):c.537C>T (p.Ala179=)
|
rs1015991179
|
0.00001
|
NM_024105.4(ALG12):c.550A>G (p.Arg184Gly)
|
rs1569176254
|
0.00001
|
NM_024105.4(ALG12):c.576C>T (p.Gly192=)
|
rs763437728
|
0.00001
|
NM_024105.4(ALG12):c.622A>T (p.Arg208Ter)
|
rs1464756874
|
0.00001
|
NM_024105.4(ALG12):c.644C>T (p.Pro215Leu)
|
rs777173365
|
0.00001
|
NM_024105.4(ALG12):c.690T>C (p.Tyr230=)
|
rs750524007
|
0.00001
|
NM_024105.4(ALG12):c.713C>T (p.Pro238Leu)
|
rs1339045983
|
0.00001
|
NM_024105.4(ALG12):c.768+1G>A
|
rs188399257
|
0.00001
|
NM_024105.4(ALG12):c.863C>T (p.Thr288Met)
|
rs748227291
|
0.00001
|
NM_024105.4(ALG12):c.872C>T (p.Pro291Leu)
|
rs778608834
|
0.00001
|
NM_024105.4(ALG12):c.873G>A (p.Pro291=)
|
rs200080075
|
0.00001
|
NM_024105.4(ALG12):c.887T>C (p.Leu296Pro)
|
rs774052738
|
0.00001
|
NM_024105.4(ALG12):c.909C>T (p.Ser303=)
|
rs768723868
|
0.00001
|
NM_024105.4(ALG12):c.933C>T (p.Arg311=)
|
rs779215527
|
0.00001
|
NM_024105.4(ALG12):c.944A>G (p.Tyr315Cys)
|
rs372655623
|
0.00001
|
NM_024105.4(ALG12):c.951C>T (p.Phe317=)
|
rs1480401201
|
0.00001
|
NM_024105.4(ALG12):c.959T>C (p.Leu320Pro)
|
rs1200180536
|
0.00001
|
NM_024105.4(ALG12):c.968C>T (p.Thr323Met)
|
rs754936149
|
0.00001
|
NM_024105.4(ALG12):c.983G>A (p.Cys328Tyr)
|
rs1371150654
|
0.00001
|
NM_024592.5(SRD5A3):c.*1935C>T
|
rs886059476
|
0.00001
|
NM_024592.5(SRD5A3):c.*2134G>A
|
rs886059478
|
0.00001
|
NM_024592.5(SRD5A3):c.*2227G>A
|
rs886059480
|
0.00001
|
NM_024592.5(SRD5A3):c.*2637T>G
|
rs1369824859
|
0.00001
|
NM_024592.5(SRD5A3):c.*873A>G
|
rs1449473949
|
0.00001
|
NM_024592.5(SRD5A3):c.-30C>A
|
rs886059471
|
0.00001
|
NM_024592.5(SRD5A3):c.169T>C (p.Cys57Arg)
|
rs530006860
|
0.00001
|
NM_024592.5(SRD5A3):c.221+10C>T
|
rs777676728
|
0.00001
|
NM_024592.5(SRD5A3):c.263G>T (p.Gly88Val)
|
rs893706862
|
0.00001
|
NM_024592.5(SRD5A3):c.480C>T (p.Val160=)
|
rs797046008
|
0.00001
|
NM_024592.5(SRD5A3):c.497G>A (p.Gly166Glu)
|
rs879845715
|
0.00001
|
NM_024592.5(SRD5A3):c.50C>T (p.Ala17Val)
|
rs1175656094
|
0.00001
|
NM_024592.5(SRD5A3):c.517G>A (p.Val173Ile)
|
rs758023141
|
0.00001
|
NM_024592.5(SRD5A3):c.562+3del
|
rs752307253
|
0.00001
|
NM_024592.5(SRD5A3):c.57G>A (p.Trp19Ter)
|
rs398124401
|
0.00001
|
NM_024592.5(SRD5A3):c.603G>A (p.Trp201Ter)
|
rs765191836
|
0.00001
|
NM_024592.5(SRD5A3):c.695C>A (p.Ala232Glu)
|
rs768516153
|
0.00001
|
NM_024592.5(SRD5A3):c.821A>G (p.Asn274Ser)
|
rs569181314
|
0.00001
|
NM_024592.5(SRD5A3):c.837A>G (p.Leu279=)
|
rs771882471
|
0.00001
|
NM_024740.2(ALG9):c.*2342G>A
|
rs532591210
|
0.00001
|
NM_024740.2(ALG9):c.*3079C>T
|
rs886047660
|
0.00001
|
NM_024740.2(ALG9):c.*3125A>T
|
rs547384257
|
0.00001
|
NM_024740.2(ALG9):c.*3212C>T
|
rs528920657
|
0.00001
|
NM_024740.2(ALG9):c.*365A>G
|
rs886047682
|
0.00001
|
NM_024740.2(ALG9):c.*726C>G
|
rs1414677485
|
0.00001
|
NM_024740.2(ALG9):c.*77G>A
|
rs984910253
|
0.00001
|
NM_024740.2(ALG9):c.*788A>G
|
rs559698025
|
0.00001
|
NM_024740.2(ALG9):c.1134T>A (p.Leu378=)
|
rs1375163899
|
0.00001
|
NM_024740.2(ALG9):c.1149C>T (p.Gly383=)
|
rs1057521573
|
0.00001
|
NM_024740.2(ALG9):c.1166C>T (p.Ala389Val)
|
rs1555122792
|
0.00001
|
NM_024740.2(ALG9):c.1251G>A (p.Ser417=)
|
rs782372397
|
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_024740.2(ALG9):c.1363C>T (p.Arg455Ter)
|
rs782775735
|
0.00001
|
NM_024740.2(ALG9):c.1384A>G (p.Ile462Val)
|
rs782350313
|
0.00001
|
NM_024740.2(ALG9):c.1392T>A (p.Thr464=)
|
rs1461283997
|
0.00001
|
NM_024740.2(ALG9):c.1502T>A (p.Phe501Tyr)
|
rs541537158
|
0.00001
|
NM_024740.2(ALG9):c.326A>G (p.Tyr109Cys)
|
rs782251524
|
0.00001
|
NM_024740.2(ALG9):c.535C>T (p.Leu179Phe)
|
rs782147690
|
0.00001
|
NM_024740.2(ALG9):c.53G>A (p.Gly18Glu)
|
rs1555158997
|
0.00001
|
NM_024740.2(ALG9):c.566-1G>A
|
rs782379446
|
0.00001
|
NM_024740.2(ALG9):c.879T>G (p.His293Gln)
|
rs1285072714
|
0.00001
|
NM_033087.4(ALG2):c.1020A>G (p.Pro340=)
|
rs762693196
|
0.00001
|
NM_033087.4(ALG2):c.1037C>T (p.Ser346Leu)
|
rs544811110
|
0.00001
|
NM_033087.4(ALG2):c.1051G>C (p.Glu351Gln)
|
rs1828726794
|
0.00001
|
NM_033087.4(ALG2):c.1078T>C (p.Phe360Leu)
|
rs1828725925
|
0.00001
|
NM_033087.4(ALG2):c.107C>T (p.Ala36Val)
|
rs567637718
|
0.00001
|
NM_033087.4(ALG2):c.1095C>G (p.Asp365Glu)
|
rs754159662
|
0.00001
|
NM_033087.4(ALG2):c.1098G>A (p.Pro366=)
|
rs562373747
|
0.00001
|
NM_033087.4(ALG2):c.1115C>T (p.Ala372Val)
|
rs762887574
|
0.00001
|
NM_033087.4(ALG2):c.1177A>G (p.Arg393Gly)
|
rs963221673
|
0.00001
|
NM_033087.4(ALG2):c.117G>A (p.Ala39=)
|
rs1353112014
|
0.00001
|
NM_033087.4(ALG2):c.1239A>C (p.Lys413Asn)
|
rs1475354932
|
0.00001
|
NM_033087.4(ALG2):c.1246G>C (p.Val416Leu)
|
rs749613639
|
0.00001
|
NM_033087.4(ALG2):c.12G>A (p.Glu4=)
|
rs1036766977
|
0.00001
|
NM_033087.4(ALG2):c.168G>A (p.Pro56=)
|
rs1225254115
|
0.00001
|
NM_033087.4(ALG2):c.183C>T (p.Ala61=)
|
rs755793459
|
0.00001
|
NM_033087.4(ALG2):c.192C>T (p.Arg64=)
|
rs367616427
|
0.00001
|
NM_033087.4(ALG2):c.198A>G (p.Leu66=)
|
rs374316187
|
0.00001
|
NM_033087.4(ALG2):c.202G>A (p.Val68Met)
|
rs770103603
|
0.00001
|
NM_033087.4(ALG2):c.219C>G (p.Asp73Glu)
|
rs755705607
|
0.00001
|
NM_033087.4(ALG2):c.268G>T (p.Ala90Ser)
|
rs941593352
|
0.00001
|
NM_033087.4(ALG2):c.272A>C (p.Tyr91Ser)
|
rs910168958
|
0.00001
|
NM_033087.4(ALG2):c.296T>C (p.Leu99Pro)
|
rs770722154
|
0.00001
|
NM_033087.4(ALG2):c.29_31del (p.Asp10_Ser11delinsAla)
|
rs762654045
|
0.00001
|
NM_033087.4(ALG2):c.303G>A (p.Val101=)
|
rs371910648
|
0.00001
|
NM_033087.4(ALG2):c.304C>T (p.Leu102=)
|
rs749236548
|
0.00001
|
NM_033087.4(ALG2):c.30del (p.Ser11fs)
|
rs763575022
|
0.00001
|
NM_033087.4(ALG2):c.33G>A (p.Ser11=)
|
rs775776287
|
0.00001
|
NM_033087.4(ALG2):c.375G>A (p.Arg125=)
|
rs1270655898
|
0.00001
|
NM_033087.4(ALG2):c.386G>A (p.Arg129Gln)
|
rs1025210566
|
0.00001
|
NM_033087.4(ALG2):c.39C>G (p.Pro13=)
|
rs746087117
|
0.00001
|
NM_033087.4(ALG2):c.402A>G (p.Leu134=)
|
rs772364404
|
0.00001
|
NM_033087.4(ALG2):c.434C>T (p.Thr145Ile)
|
rs752746581
|
0.00001
|
NM_033087.4(ALG2):c.473C>T (p.Pro158Leu)
|
rs746092484
|
0.00001
|
NM_033087.4(ALG2):c.489G>C (p.Glu163Asp)
|
rs1486842886
|
0.00001
|
NM_033087.4(ALG2):c.48G>C (p.Ser16=)
|
rs199752563
|
0.00001
|
NM_033087.4(ALG2):c.571C>T (p.Leu191=)
|
rs1828740241
|
0.00001
|
NM_033087.4(ALG2):c.572T>C (p.Leu191Pro)
|
rs759789517
|
0.00001
|
NM_033087.4(ALG2):c.617C>T (p.Thr206Ile)
|
rs1166295828
|
0.00001
|
NM_033087.4(ALG2):c.619A>G (p.Ser207Gly)
|
rs745514949
|
0.00001
|
NM_033087.4(ALG2):c.629C>G (p.Ser210Ter)
|
rs139547697
|
0.00001
|
NM_033087.4(ALG2):c.663C>T (p.Pro221=)
|
rs201126562
|
0.00001
|
NM_033087.4(ALG2):c.690C>T (p.Ser230=)
|
rs368526201
|
0.00001
|
NM_033087.4(ALG2):c.699A>G (p.Arg233=)
|
rs746932585
|
0.00001
|
NM_033087.4(ALG2):c.702C>T (p.Tyr234=)
|
rs370457158
|
0.00001
|
NM_033087.4(ALG2):c.703G>A (p.Glu235Lys)
|
rs189167741
|
0.00001
|
NM_033087.4(ALG2):c.70C>T (p.Leu24=)
|
rs143683491
|
0.00001
|
NM_033087.4(ALG2):c.764C>T (p.Thr255Ile)
|
rs766853240
|
0.00001
|
NM_033087.4(ALG2):c.76G>A (p.Val26Met)
|
rs1280699944
|
0.00001
|
NM_033087.4(ALG2):c.85G>C (p.Ala29Pro)
|
rs202053471
|
0.00001
|
NM_033087.4(ALG2):c.894C>G (p.Thr298=)
|
rs758885892
|
0.00001
|
NM_033087.4(ALG2):c.936C>T (p.Leu312=)
|
rs753807667
|
0.00001
|
NM_033087.4(ALG2):c.947C>T (p.Thr316Met)
|
rs764242401
|
0.00001
|
NM_052859.4(RFT1):c.*1900C>T
|
rs202235284
|
0.00001
|
NM_052859.4(RFT1):c.*240T>C
|
rs534506262
|
0.00001
|
NM_052859.4(RFT1):c.*3348A>G
|
rs1383425042
|
0.00001
|
NM_052859.4(RFT1):c.*968A>G
|
rs1159558402
|
0.00001
|
NM_052859.4(RFT1):c.1074C>T (p.Tyr358=)
|
rs762817759
|
0.00001
|
NM_052859.4(RFT1):c.1095A>G (p.Ser365=)
|
rs759269012
|
0.00001
|
NM_052859.4(RFT1):c.1100C>A (p.Ser367Tyr)
|
rs991499046
|
0.00001
|
NM_052859.4(RFT1):c.1102G>A (p.Gly368Ser)
|
rs483352764
|
0.00001
|
NM_052859.4(RFT1):c.1169G>A (p.Cys390Tyr)
|
rs758102329
|
0.00001
|
NM_052859.4(RFT1):c.1183G>A (p.Ala395Thr)
|
rs765115802
|
0.00001
|
NM_052859.4(RFT1):c.1203C>T (p.Val401=)
|
rs555227282
|
0.00001
|
NM_052859.4(RFT1):c.1204G>A (p.Asp402Asn)
|
rs760448271
|
0.00001
|
NM_052859.4(RFT1):c.1208+19A>G
|
rs542117380
|
0.00001
|
NM_052859.4(RFT1):c.1208+20C>T
|
rs1701244022
|
0.00001
|
NM_052859.4(RFT1):c.1209-4C>T
|
rs1475575801
|
0.00001
|
NM_052859.4(RFT1):c.1269C>G (p.Thr423=)
|
rs1271059666
|
0.00001
|
NM_052859.4(RFT1):c.1284C>T (p.Ser428=)
|
rs773206764
|
0.00001
|
NM_052859.4(RFT1):c.1315A>G (p.Met439Val)
|
rs754783004
|
0.00001
|
NM_052859.4(RFT1):c.132T>C (p.Val44=)
|
rs1218035102
|
0.00001
|
NM_052859.4(RFT1):c.1355G>A (p.Arg452His)
|
rs372822382
|
0.00001
|
NM_052859.4(RFT1):c.1358A>G (p.Tyr453Cys)
|
rs761109723
|
0.00001
|
NM_052859.4(RFT1):c.1376A>G (p.His459Arg)
|
rs144531852
|
0.00001
|
NM_052859.4(RFT1):c.1377C>T (p.His459=)
|
rs1406468804
|
0.00001
|
NM_052859.4(RFT1):c.1384C>T (p.Leu462=)
|
rs1701022192
|
0.00001
|
NM_052859.4(RFT1):c.1391G>A (p.Gly464Asp)
|
rs1191825046
|
0.00001
|
NM_052859.4(RFT1):c.1407A>G (p.Pro469=)
|
rs750985409
|
0.00001
|
NM_052859.4(RFT1):c.1417G>A (p.Gly473Arg)
|
rs754212502
|
0.00001
|
NM_052859.4(RFT1):c.1454C>T (p.Ser485Leu)
|
rs377516481
|
0.00001
|
NM_052859.4(RFT1):c.149+13G>A
|
rs866873760
|
0.00001
|
NM_052859.4(RFT1):c.149+5G>A
|
rs775590840
|
0.00001
|
NM_052859.4(RFT1):c.1540G>A (p.Gly514Arg)
|
rs927269749
|
0.00001
|
NM_052859.4(RFT1):c.155C>T (p.Thr52Met)
|
rs764531159
|
0.00001
|
NM_052859.4(RFT1):c.156G>A (p.Thr52=)
|
rs775437985
|
0.00001
|
NM_052859.4(RFT1):c.201C>T (p.Arg67=)
|
rs954135080
|
0.00001
|
NM_052859.4(RFT1):c.266+16G>T
|
rs1275153388
|
0.00001
|
NM_052859.4(RFT1):c.271C>T (p.Pro91Ser)
|
rs147915986
|
0.00001
|
NM_052859.4(RFT1):c.326A>C (p.Glu109Ala)
|
rs1384861869
|
0.00001
|
NM_052859.4(RFT1):c.386C>T (p.Ser129Leu)
|
rs754395993
|
0.00001
|
NM_052859.4(RFT1):c.492C>T (p.Ser164=)
|
rs767438719
|
0.00001
|
NM_052859.4(RFT1):c.493G>A (p.Val165Ile)
|
rs571575323
|
0.00001
|
NM_052859.4(RFT1):c.496C>T (p.Leu166=)
|
rs751774742
|
0.00001
|
NM_052859.4(RFT1):c.516G>A (p.Leu172=)
|
rs1290755219
|
0.00001
|
NM_052859.4(RFT1):c.541A>G (p.Ile181Val)
|
rs771804132
|
0.00001
|
NM_052859.4(RFT1):c.555C>T (p.Ala185=)
|
rs1183969513
|
0.00001
|
NM_052859.4(RFT1):c.558+6A>T
|
rs886058726
|
0.00001
|
NM_052859.4(RFT1):c.559-6T>C
|
rs1204891856
|
0.00001
|
NM_052859.4(RFT1):c.573A>C (p.Thr191=)
|
rs528184485
|
0.00001
|
NM_052859.4(RFT1):c.63+8C>G
|
rs1022161995
|
0.00001
|
NM_052859.4(RFT1):c.63G>A (p.Gln21=)
|
rs139372284
|
0.00001
|
NM_052859.4(RFT1):c.64G>A (p.Val22Met)
|
rs374252619
|
0.00001
|
NM_052859.4(RFT1):c.665C>T (p.Thr222Ile)
|
rs1323618296
|
0.00001
|
NM_052859.4(RFT1):c.675A>G (p.Leu225=)
|
rs1344235659
|
0.00001
|
NM_052859.4(RFT1):c.697-13T>G
|
rs928587361
|
0.00001
|
NM_052859.4(RFT1):c.698C>T (p.Ala233Val)
|
rs751030368
|
0.00001
|
NM_052859.4(RFT1):c.728C>T (p.Thr243Ile)
|
rs762597470
|
0.00001
|
NM_052859.4(RFT1):c.777C>T (p.Gly259=)
|
rs752385816
|
0.00001
|
NM_052859.4(RFT1):c.839T>C (p.Ile280Thr)
|
rs757620281
|
0.00001
|
NM_052859.4(RFT1):c.968C>G (p.Ala323Gly)
|
rs770086765
|
0.00001
|
NM_052859.4(RFT1):c.969T>C (p.Ala323=)
|
rs893435134
|
0.00001
|
NM_138459.5(NUS1):c.100A>G (p.Asn34Asp)
|
rs934670535
|
0.00001
|
NM_138459.5(NUS1):c.154C>G (p.Leu52Val)
|
rs1472312886
|
0.00001
|
NM_138459.5(NUS1):c.16G>C (p.Glu6Gln)
|
rs1374617888
|
0.00001
|
NM_138459.5(NUS1):c.185T>G (p.Val62Gly)
|
rs754191035
|
0.00001
|
NM_138459.5(NUS1):c.202C>T (p.His68Tyr)
|
rs1392977734
|
0.00001
|
NM_138459.5(NUS1):c.24G>A (p.Val8=)
|
rs745434007
|
0.00001
|
NM_138459.5(NUS1):c.262C>T (p.Arg88Cys)
|
rs1426327353
|
0.00001
|
NM_138459.5(NUS1):c.264C>T (p.Arg88=)
|
rs959021329
|
0.00001
|
NM_138459.5(NUS1):c.279C>T (p.Ser93=)
|
rs1298752813
|
0.00001
|
NM_138459.5(NUS1):c.29G>A (p.Arg10Gln)
|
rs1369494529
|
0.00001
|
NM_138459.5(NUS1):c.330G>A (p.Gln110=)
|
rs1414061827
|
0.00001
|
NM_138459.5(NUS1):c.335C>G (p.Pro112Arg)
|
rs540846579
|
0.00001
|
NM_138459.5(NUS1):c.351C>G (p.Ile117Met)
|
rs1344911571
|
0.00001
|
NM_138459.5(NUS1):c.354G>C (p.Ala118=)
|
rs1456838164
|
0.00001
|
NM_138459.5(NUS1):c.378C>T (p.Ala126=)
|
rs774571642
|
0.00001
|
NM_138459.5(NUS1):c.402C>T (p.Val134=)
|
rs769107043
|
0.00001
|
NM_138459.5(NUS1):c.415+9C>T
|
rs1772975415
|
0.00001
|
NM_138459.5(NUS1):c.416-10T>C
|
rs751156157
|
0.00001
|
NM_138459.5(NUS1):c.416-9T>G
|
rs1328227461
|
0.00001
|
NM_138459.5(NUS1):c.46C>T (p.Leu16Phe)
|
rs962512059
|
0.00001
|
NM_138459.5(NUS1):c.487G>C (p.Asp163His)
|
rs369403261
|
0.00001
|
NM_138459.5(NUS1):c.538C>G (p.Gln180Glu)
|
rs751210637
|
0.00001
|
NM_138459.5(NUS1):c.541+19T>C
|
rs756091140
|
0.00001
|
NM_138459.5(NUS1):c.579G>A (p.Pro193=)
|
rs753713015
|
0.00001
|
NM_138459.5(NUS1):c.601G>A (p.Val201Ile)
|
rs1238998019
|
0.00001
|
NM_138459.5(NUS1):c.672T>C (p.Asp224=)
|
rs772889914
|
0.00001
|
NM_138459.5(NUS1):c.675G>A (p.Thr225=)
|
rs763523987
|
0.00001
|
NM_138459.5(NUS1):c.691+13A>T
|
rs1303197797
|
0.00001
|
NM_138459.5(NUS1):c.698A>G (p.Asn233Ser)
|
rs1198292880
|
0.00001
|
NM_138459.5(NUS1):c.787A>G (p.Ile263Val)
|
rs1773460765
|
0.00001
|
NM_138459.5(NUS1):c.790G>A (p.Val264Ile)
|
rs1562183021
|
0.00001
|
NM_138459.5(NUS1):c.792-16C>T
|
rs1049247260
|
0.00001
|
NM_138459.5(NUS1):c.792-17C>T
|
rs146457283
|
0.00001
|
NM_138459.5(NUS1):c.798G>A (p.Leu266=)
|
rs943172341
|
0.00001
|
NM_138459.5(NUS1):c.845G>A (p.Arg282His)
|
rs140791750
|
0.00001
|
NM_153741.2(DPM3):c.129_130del (p.Tyr44fs)
|
rs1557794919
|
0.00001
|
NM_153741.2(DPM3):c.178C>T (p.Arg60Cys)
|
rs766751249
|
0.00001
|
NM_153741.2(DPM3):c.196G>T (p.Asp66Tyr)
|
rs1204451277
|
0.00001
|
NM_153741.2(DPM3):c.208G>A (p.Ala70Thr)
|
rs776662775
|
0.00001
|
NM_153741.2(DPM3):c.218A>C (p.Glu73Ala)
|
rs745807155
|
0.00001
|
NM_153741.2(DPM3):c.266G>A (p.Gly89Glu)
|
rs758821383
|
0.00001
|
NM_153741.2(DPM3):c.41T>C (p.Leu14Pro)
|
rs778481307
|
0.00001
|
NM_153741.2(DPM3):c.60C>T (p.Ala20=)
|
rs371295542
|
0.00001
|
NM_178862.3(STT3B):c.1071A>G (p.Val357=)
|
rs976102255
|
0.00001
|
NM_178862.3(STT3B):c.1172+9A>C
|
rs1401856785
|
0.00001
|
NM_178862.3(STT3B):c.1342A>G (p.Ile448Val)
|
rs559861697
|
0.00001
|
NM_178862.3(STT3B):c.1539+20G>T
|
rs587777217
|
0.00001
|
NM_178862.3(STT3B):c.153G>C (p.Pro51=)
|
rs1352764626
|
0.00001
|
NM_178862.3(STT3B):c.171G>A (p.Gly57=)
|
rs1430886809
|
0.00001
|
NM_178862.3(STT3B):c.2412G>A (p.Arg804=)
|
rs1340679932
|
0.00001
|
NM_178862.3(STT3B):c.309C>T (p.Asp103=)
|
rs763169035
|
0.00001
|
NM_178862.3(STT3B):c.390A>G (p.Ala130=)
|
rs755782930
|
0.00001
|
NM_178862.3(STT3B):c.490G>A (p.Val164Ile)
|
rs1223992368
|
0.00001
|
NM_178862.3(STT3B):c.619A>G (p.Ile207Val)
|
rs780102016
|
0.00001
|
NM_178862.3(STT3B):c.870C>G (p.Val290=)
|
rs548334707
|
0.00001
|
NM_201400.4(EEF2KMT):c.*886C>G
|
rs758181814
|
0.00001
|
NM_201400.4(EEF2KMT):c.*893A>C
|
rs1047764
|
0.00001
|
ALG9, GLU359LYS
|
|
|
GRCh37/hg19 16p13.2(chr16:8851612-8943194)x3
|
|
|
GRCh37/hg19 16p13.3(chr16:5121789-5133778)
|
|
|
GRCh37/hg19 16p13.3(chr16:5129043-5129828)
|
|
|
Multiple alleles
|
|
|
NC_000001.10:g.(?_155112438)_(155112716_?)dup
|
|
|
NC_000001.10:g.(?_19199339)_(22987879_?)dup
|
|
|
NC_000001.10:g.(?_63836639)_(63902701_?)del
|
|
|
NC_000001.10:g.(?_63836649)_(63836750_?)del
|
|
|
NC_000001.10:g.(?_63867905)_(63902691_?)del
|
|
|
NC_000001.10:g.(?_63867915)_(63868024_?)del
|
|
|
NC_000001.10:g.(?_63885021)_(63885131_?)del
|
|
|
NC_000001.10:g.(?_64059160)_(64059425_?)dup
|
|
|
NC_000001.11:g.(?_155139952)_(155140340_?)dup
|
|
|
NC_000001.11:g.(?_20652359)_(20661421_?)del
|
|
|
NC_000001.11:g.(?_63396503)_(63396607_?)dup
|
|
|
NC_000001.11:g.(?_63428723)_(63429136_?)del
|
|
|
NC_000001.11:g.20661380G>C
|
rs537816
|
|
NC_000003.11:g.(?_182733226)_(184094097_?)del
|
|
|
NC_000003.11:g.(?_52109903)_(53164416_?)del
|
|
|
NC_000003.11:g.(?_53125919)_(53164416_?)dup
|
|
|
NC_000003.11:g.(?_53133377)_(53133522_?)del
|
|
|
NC_000003.11:g.(?_53155766)_(53156657_?)del
|
|
|
NC_000004.11:g.(?_56225493)_(56225675_?)del
|
|
|
NC_000006.11:g.(?_116441236)_(119252888_?)del
|
|
|
NC_000006.11:g.(?_117786180)_(117997268_?)dup
|
|
|
NC_000006.11:g.(?_117996834)_(117997268_?)del
|
|
|
NC_000006.11:g.(?_118014185)_(118014350_?)del
|
|
|
NC_000006.11:g.(?_118028088)_(118028178_?)del
|
|
|
NC_000009.11:g.(?_100190748)_(103062956_?)dup
|
|
|
NC_000009.11:g.(?_130216797)_(130953151_?)dup
|
|
|
NC_000009.11:g.(?_130216807)_(130953136_?)del
|
|
|
NC_000009.11:g.(?_131707946)_(131709602_?)dup
|
|
|
NC_000009.12:g.(?_128945677)_(128947313_?)dup
|
|
|
NC_000011.9:g.(118971849_118972204)_(118972786_?)del
|
|
|
NC_000011.9:g.(?_111657121)_(111922093_?)del
|
|
|
NC_000011.9:g.(?_118967698)_(119170501_?)del
|
|
|
NC_000011.9:g.(?_118967698)_(119170501_?)dup
|
|
|
NC_000012.11:g.(?_124191253)_(124207015_?)dup
|
|
|
NC_000013.10:g.(?_52538988)_(52602746_?)dup
|
|
|
NC_000013.10:g.(?_52585403)_(52602726_?)del
|
|
|
NC_000015.9:g.(?_75188483)_(75190081_?)del
|
|
|
NC_000016.10:g.(?_5080946)_(5097739_?)del
|
|
|
NC_000016.10:g.(?_8750402)_(8801930_?)dup
|
|
|
NC_000016.10:g.(?_8764049)_(8811733_?)dup
|
|
|
NC_000016.10:g.(?_8768173)_(8832245_?)dup
|
|
|
NC_000016.10:g.(?_8772760)_(8847845_?)dup
|
|
|
NC_000016.10:g.(?_8779459)_(8847845_?)del
|
|
|
NC_000016.10:g.(?_8781289)_(8847845_?)dup
|
|
|
NC_000016.10:g.(?_8797873)_(8797958_?)del
|
|
|
NC_000016.10:g.(?_8797873)_(8813116_?)del
|
|
|
NC_000016.10:g.(?_8804742)_(8804853_?)del
|
|
|
NC_000016.10:g.(?_8804742)_(8813116_?)del
|
|
|
NC_000016.10:g.(?_8811069)_(8832245_?)del
|
|
|
NC_000016.10:g.(?_8847701)_(8847845_?)del
|
|
|
NC_000016.10:g.8852245_8823657delinsAluYb8
|
|
|
NC_000016.9:g.(8900265_8904935)_(8943195_?)del
|
|
|
NC_000016.9:g.(8906964_8941580)_(8943195_?)del
|
|
|
NC_000016.9:g.(?_5121851)_(5125557_?)del
|
|
|
NC_000016.9:g.(?_5121851)_(5127555_?)dup
|
|
|
NC_000016.9:g.(?_5121851)_(5134882_?)del
|
|
|
NC_000016.9:g.(?_5125369)_(5134882_?)del
|
|
|
NC_000016.9:g.(?_5130927)_(5131077_?)dup
|
|
|
NC_000016.9:g.(?_5132540)_(5134882_?)dup
|
|
|
NC_000016.9:g.(?_5134731)_(5134882_?)dup
|
|
|
NC_000016.9:g.(?_8839838)_(8900284_?)dup
|
|
|
NC_000016.9:g.(?_8839838)_(8905055_?)dup
|
|
|
NC_000016.9:g.(?_8839838)_(8941682_?)dup
|
|
|
NC_000016.9:g.(?_8891573)_(8941682_?)dup
|
|
|
NC_000016.9:g.(?_8891720)_(8900284_?)dup
|
|
|
NC_000016.9:g.(?_8895646)_(8895777_?)del
|
|
|
NC_000016.9:g.(?_8895646)_(8895777_?)dup
|
|
|
NC_000016.9:g.(?_8898599)_(8898710_?)dup
|
|
|
NC_000016.9:g.(?_8900163)_(8941692_?)del
|
|
|
NC_000016.9:g.(?_8905475)_(8905590_?)del
|
|
|
NC_000016.9:g.(?_8906828)_(8906983_?)del
|
|
|
NC_000016.9:g.(?_8926102)_(8941682_?)dup
|
|
|
NC_000020.10:g.(?_49507942)_(49576762_?)del
|
|
|
NC_000020.10:g.(?_49557382)_(49558683_?)dup
|
|
|
NC_000020.11:g.(50936263_50940865)_(50948664_50955185)del
|
|
|
NC_000020.11:g.(?_50934864)_(50958574_?)del
|
|
|
NC_000020.11:g.(?_50940845)_(50942146_?)del
|
|
|
NC_000022.10:g.(?_50167881)_(51066207_?)dup
|
|
|
NC_000022.10:g.(?_50297466)_(51066227_?)del
|
|
|
NC_000022.10:g.(?_50297486)_(50301612_?)del
|
|
|
NC_000022.10:g.(?_50297486)_(50307413_?)del
|
|
|
NC_000022.11:g.(?_49903818)_(49907964_?)del
|
|
|
NC_000023.10:g.(?_109919459)_(111003227_?)del
|
|
|
NC_000023.10:g.(?_110544895)_(111003247_?)del
|
|
|
NC_000023.10:g.(?_110924427)_(111003247_?)dup
|
|
|
NC_000023.10:g.(?_110973603)_(110973828_?)del
|
|
|
NC_000023.11:g.(?_111301667)_(111760019_?)dup
|
|
|
NM_000053.4(ATP7B):c.-123_-119dupCGCCG
|
rs148013251
|
|
NM_000303.3(PMM2):c.*1032C>A
|
rs79686490
|
|
NM_000303.3(PMM2):c.*1032C>G
|
rs79686490
|
|
NM_000303.3(PMM2):c.*1072A>G
|
rs2060947173
|
|
NM_000303.3(PMM2):c.*1142A>T
|
rs760967158
|
|
NM_000303.3(PMM2):c.*1218A>G
|
rs557668852
|
|
NM_000303.3(PMM2):c.*1224C>A
|
rs74008087
|
|
NM_000303.3(PMM2):c.*1297C>A
|
rs183853029
|
|
NM_000303.3(PMM2):c.*1312T>C
|
rs905795044
|
|
NM_000303.3(PMM2):c.*1352G>C
|
rs750545597
|
|
NM_000303.3(PMM2):c.*1375G>T
|
rs886052472
|
|
NM_000303.3(PMM2):c.*137G>A
|
rs886052459
|
|
NM_000303.3(PMM2):c.*1380A>G
|
rs2060949906
|
|
NM_000303.3(PMM2):c.*1424C>T
|
rs552732593
|
|
NM_000303.3(PMM2):c.*1440C>G
|
rs147950728
|
|
NM_000303.3(PMM2):c.*255A>G
|
rs2060940260
|
|
NM_000303.3(PMM2):c.*275A>T
|
rs553522916
|
|
NM_000303.3(PMM2):c.*276C>G
|
rs573179742
|
|
NM_000303.3(PMM2):c.*421G>T
|
rs1178910267
|
|
NM_000303.3(PMM2):c.*458C>T
|
rs1380890616
|
|
NM_000303.3(PMM2):c.*53G>C
|
rs762640350
|
|
NM_000303.3(PMM2):c.*791G>C
|
rs2437722
|
|
NM_000303.3(PMM2):c.*91C>T
|
|
|
NM_000303.3(PMM2):c.-167G>T
|
rs1596481676
|
|
NM_000303.3(PMM2):c.105G>A (p.Leu35=)
|
|
|
NM_000303.3(PMM2):c.117C>G (p.Ile39Met)
|
|
|
NM_000303.3(PMM2):c.123C>T (p.Ile41=)
|
rs751463681
|
|
NM_000303.3(PMM2):c.124G>T (p.Gly42Ter)
|
|
|
NM_000303.3(PMM2):c.127G>A (p.Val43Met)
|
rs376754460
|
|
NM_000303.3(PMM2):c.127G>T (p.Val43Leu)
|
rs376754460
|
|
NM_000303.3(PMM2):c.129G>A (p.Val43=)
|
rs777608895
|
|
NM_000303.3(PMM2):c.129G>T (p.Val43=)
|
rs777608895
|
|
NM_000303.3(PMM2):c.130G>A (p.Val44Ile)
|
rs2060618497
|
|
NM_000303.3(PMM2):c.130G>C (p.Val44Leu)
|
|
|
NM_000303.3(PMM2):c.131T>C (p.Val44Ala)
|
rs104894534
|
|
NM_000303.3(PMM2):c.135C>A (p.Gly45=)
|
rs748980961
|
|
NM_000303.3(PMM2):c.137G>A (p.Gly46Glu)
|
rs2141017011
|
|
NM_000303.3(PMM2):c.140C>T (p.Ser47Leu)
|
|
|
NM_000303.3(PMM2):c.156G>A (p.Val52=)
|
|
|
NM_000303.3(PMM2):c.156G>T (p.Val52=)
|
rs2141017027
|
|
NM_000303.3(PMM2):c.157C>T (p.Gln53Ter)
|
rs1057520708
|
|
NM_000303.3(PMM2):c.15C>G (p.Gly5=)
|
|
|
NM_000303.3(PMM2):c.15C>T (p.Gly5=)
|
|
|
NM_000303.3(PMM2):c.160dup (p.Glu54fs)
|
rs753122961
|
|
NM_000303.3(PMM2):c.162G>A (p.Glu54=)
|
rs1596484153
|
|
NM_000303.3(PMM2):c.165A>G (p.Gln55=)
|
|
|
NM_000303.3(PMM2):c.168G>T (p.Leu56=)
|
rs1013771553
|
|
NM_000303.3(PMM2):c.169G>C (p.Gly57Arg)
|
|
|
NM_000303.3(PMM2):c.16_22del (p.Pro6fs)
|
rs2141014102
|
|
NM_000303.3(PMM2):c.173del (p.Asn58fs)
|
|
|
NM_000303.3(PMM2):c.178+11G>C
|
|
|
NM_000303.3(PMM2):c.178+20T>G
|
|
|
NM_000303.3(PMM2):c.178+2T>G
|
rs1555448922
|
|
NM_000303.3(PMM2):c.178+3A>G
|
|
|
NM_000303.3(PMM2):c.178+7G>A
|
rs376829859
|
|
NM_000303.3(PMM2):c.179-12T>C
|
|
|
NM_000303.3(PMM2):c.179-13G>A
|
|
|
NM_000303.3(PMM2):c.179-15del
|
rs145496357
|
|
NM_000303.3(PMM2):c.179-15dup
|
rs145496357
|
|
NM_000303.3(PMM2):c.179-1G>C
|
|
|
NM_000303.3(PMM2):c.179-1G>T
|
rs1166138838
|
|
NM_000303.3(PMM2):c.179-20T>G
|
|
|
NM_000303.3(PMM2):c.179-25A>G
|
|
|
NM_000303.3(PMM2):c.179-2A>G
|
rs2141019036
|
|
NM_000303.3(PMM2):c.179-4G>A
|
|
|
NM_000303.3(PMM2):c.179-6T>C
|
rs2060637002
|
|
NM_000303.3(PMM2):c.179-7A>T
|
rs2060636990
|
|
NM_000303.3(PMM2):c.179-8G>C
|
|
|
NM_000303.3(PMM2):c.17_28del (p.Pro6_Cys9del)
|
|
|
NM_000303.3(PMM2):c.188A>T (p.Lys63Ile)
|
|
|
NM_000303.3(PMM2):c.189del (p.Lys63fs)
|
rs1057516815
|
|
NM_000303.3(PMM2):c.18A>G (p.Pro6=)
|
|
|
NM_000303.3(PMM2):c.190del (p.Tyr64fs)
|
rs1339004837
|
|
NM_000303.3(PMM2):c.191A>C (p.Tyr64Ser)
|
|
|
NM_000303.3(PMM2):c.192C>G (p.Tyr64Ter)
|
|
|
NM_000303.3(PMM2):c.193G>A (p.Asp65Asn)
|
|
|
NM_000303.3(PMM2):c.194A>G (p.Asp65Gly)
|
|
|
NM_000303.3(PMM2):c.195T>C (p.Asp65=)
|
|
|
NM_000303.3(PMM2):c.196dup (p.Tyr66fs)
|
|
|
NM_000303.3(PMM2):c.197_198del (p.Tyr66fs)
|
|
|
NM_000303.3(PMM2):c.1A>G (p.Met1Val)
|
rs786204591
|
|
NM_000303.3(PMM2):c.201_202del (p.Phe68fs)
|
rs1343161886
|
|
NM_000303.3(PMM2):c.203T>G (p.Phe68Cys)
|
rs373788015
|
|
NM_000303.3(PMM2):c.205C>A (p.Pro69Thr)
|
|
|
NM_000303.3(PMM2):c.205C>T (p.Pro69Ser)
|
rs769648248
|
|
NM_000303.3(PMM2):c.206C>T (p.Pro69Leu)
|
|
|
NM_000303.3(PMM2):c.207A>G (p.Pro69=)
|
rs1053902842
|
|
NM_000303.3(PMM2):c.208G>T (p.Glu70Ter)
|
|
|
NM_000303.3(PMM2):c.217T>C (p.Leu73=)
|
rs1446327044
|
|
NM_000303.3(PMM2):c.21G>C (p.Ala7=)
|
rs1333237246
|
|
NM_000303.3(PMM2):c.223G>C (p.Ala75Pro)
|
|
|
NM_000303.3(PMM2):c.225A>G (p.Ala75=)
|
|
|
NM_000303.3(PMM2):c.228C>A (p.Tyr76Ter)
|
|
|
NM_000303.3(PMM2):c.231del (p.Asp78fs)
|
|
|
NM_000303.3(PMM2):c.234T>C (p.Asp78=)
|
rs1186149338
|
|
NM_000303.3(PMM2):c.235G>C (p.Gly79Arg)
|
|
|
NM_000303.3(PMM2):c.243C>T (p.Leu81=)
|
rs1169352353
|
|
NM_000303.3(PMM2):c.243_244del (p.Leu82fs)
|
rs2060637616
|
|
NM_000303.3(PMM2):c.244T>C (p.Leu82=)
|
rs1399590258
|
|
NM_000303.3(PMM2):c.248G>A (p.Cys83Tyr)
|
|
|
NM_000303.3(PMM2):c.250A>T (p.Arg84Ter)
|
|
|
NM_000303.3(PMM2):c.253C>T (p.Gln85Ter)
|
|
|
NM_000303.3(PMM2):c.255+17C>G
|
|
|
NM_000303.3(PMM2):c.255+1G>C
|
|
|
NM_000303.3(PMM2):c.255+2T>G
|
|
|
NM_000303.3(PMM2):c.255+8C>T
|
|
|
NM_000303.3(PMM2):c.256-15A>T
|
|
|
NM_000303.3(PMM2):c.256-17G>T
|
|
|
NM_000303.3(PMM2):c.256-18_256-15del
|
|
|
NM_000303.3(PMM2):c.256-1G>A
|
|
|
NM_000303.3(PMM2):c.256-2A>G
|
rs1057516372
|
|
NM_000303.3(PMM2):c.256-5T>C
|
rs1430962288
|
|
NM_000303.3(PMM2):c.256-6A>C
|
|
|
NM_000303.3(PMM2):c.256-7C>T
|
rs561075568
|
|
NM_000303.3(PMM2):c.261T>G (p.Ile87Met)
|
|
|
NM_000303.3(PMM2):c.264A>C (p.Gln88His)
|
|
|
NM_000303.3(PMM2):c.264A>G (p.Gln88=)
|
rs376597290
|
|
NM_000303.3(PMM2):c.264_265del (p.His90fs)
|
rs2141019983
|
|
NM_000303.3(PMM2):c.26G>A (p.Cys9Tyr)
|
rs104894532
|
|
NM_000303.3(PMM2):c.26G>T (p.Cys9Phe)
|
|
|
NM_000303.3(PMM2):c.270T>C (p.His90=)
|
|
|
NM_000303.3(PMM2):c.273G>A (p.Leu91=)
|
rs2141019988
|
|
NM_000303.3(PMM2):c.279G>A (p.Glu93=)
|
|
|
NM_000303.3(PMM2):c.279G>T (p.Glu93Asp)
|
|
|
NM_000303.3(PMM2):c.27C>A (p.Cys9Ter)
|
rs1057516943
|
|
NM_000303.3(PMM2):c.283C>T (p.Leu95=)
|
rs2060647522
|
|
NM_000303.3(PMM2):c.285A>C (p.Leu95=)
|
rs2141019992
|
|
NM_000303.3(PMM2):c.285A>T (p.Leu95=)
|
|
|
NM_000303.3(PMM2):c.288C>T (p.Ile96=)
|
|
|
NM_000303.3(PMM2):c.28C>G (p.Leu10Val)
|
|
|
NM_000303.3(PMM2):c.28del (p.Leu10fs)
|
|
|
NM_000303.3(PMM2):c.294T>C (p.Asp98=)
|
|
|
NM_000303.3(PMM2):c.295T>C (p.Leu99=)
|
|
|
NM_000303.3(PMM2):c.295_296del (p.Leu99fs)
|
|
|
NM_000303.3(PMM2):c.296T>A (p.Leu99Ter)
|
|
|
NM_000303.3(PMM2):c.297A>G (p.Leu99=)
|
|
|
NM_000303.3(PMM2):c.300C>A (p.Ile100=)
|
|
|
NM_000303.3(PMM2):c.300C>T (p.Ile100=)
|
rs747970886
|
|
NM_000303.3(PMM2):c.303C>G (p.Asn101Lys)
|
|
|
NM_000303.3(PMM2):c.309T>A (p.Cys103Ter)
|
|
|
NM_000303.3(PMM2):c.317A>T (p.Tyr106Phe)
|
rs387906824
|
|
NM_000303.3(PMM2):c.318C>T (p.Tyr106=)
|
rs930344709
|
|
NM_000303.3(PMM2):c.324G>C (p.Ala108=)
|
|
|
NM_000303.3(PMM2):c.324del (p.Ile110fs)
|
rs1555449314
|
|
NM_000303.3(PMM2):c.325A>T (p.Lys109Ter)
|
|
|
NM_000303.3(PMM2):c.328A>G (p.Ile110Val)
|
|
|
NM_000303.3(PMM2):c.328_329insGGGAA (p.Ile110fs)
|
|
|
NM_000303.3(PMM2):c.329T>G (p.Ile110Ser)
|
rs2141020030
|
|
NM_000303.3(PMM2):c.336C>G (p.Leu112=)
|
|
|
NM_000303.3(PMM2):c.337C>A (p.Pro113Thr)
|
rs765433263
|
|
NM_000303.3(PMM2):c.339G>C (p.Pro113=)
|
|
|
NM_000303.3(PMM2):c.339G>T (p.Pro113=)
|
rs149849259
|
|
NM_000303.3(PMM2):c.340A>T (p.Lys114Ter)
|
|
|
NM_000303.3(PMM2):c.341AGA[1] (p.Lys115del)
|
rs1555449316
|
|
NM_000303.3(PMM2):c.345G>A (p.Lys115=)
|
rs2141020046
|
|
NM_000303.3(PMM2):c.345dup (p.Arg116fs)
|
rs1057516757
|
|
NM_000303.3(PMM2):c.347+15A>C
|
rs751222355
|
|
NM_000303.3(PMM2):c.347+17C>T
|
|
|
NM_000303.3(PMM2):c.347+1G>A
|
rs1057517117
|
|
NM_000303.3(PMM2):c.347+20A>G
|
|
|
NM_000303.3(PMM2):c.347+3G>A
|
|
|
NM_000303.3(PMM2):c.347+8T>C
|
|
|
NM_000303.3(PMM2):c.348-14C>T
|
|
|
NM_000303.3(PMM2):c.348-17C>T
|
|
|
NM_000303.3(PMM2):c.348-19G>A
|
rs1057523353
|
|
NM_000303.3(PMM2):c.348-19_348-18del
|
|
|
NM_000303.3(PMM2):c.348-1G>C
|
rs1555449604
|
|
NM_000303.3(PMM2):c.348-2A>C
|
rs1555449603
|
|
NM_000303.3(PMM2):c.348-2A>G
|
|
|
NM_000303.3(PMM2):c.348-2_348-1insAA
|
|
|
NM_000303.3(PMM2):c.348-2del
|
rs2141022949
|
|
NM_000303.3(PMM2):c.348-3del
|
rs2141022947
|
|
NM_000303.3(PMM2):c.348-4C>T
|
|
|
NM_000303.3(PMM2):c.348-5C>A
|
rs746660218
|
|
NM_000303.3(PMM2):c.348-5C>T
|
rs746660218
|
|
NM_000303.3(PMM2):c.348-8A>C
|
|
|
NM_000303.3(PMM2):c.348-8A>T
|
rs186061775
|
|
NM_000303.3(PMM2):c.348-9C>A
|
rs1247908378
|
|
NM_000303.3(PMM2):c.349G>C (p.Gly117Arg)
|
rs104894530
|
|
NM_000303.3(PMM2):c.349G>T (p.Gly117Cys)
|
rs104894530
|
|
NM_000303.3(PMM2):c.34G>C (p.Asp12His)
|
|
|
NM_000303.3(PMM2):c.352A>G (p.Thr118Ala)
|
rs886043289
|
|
NM_000303.3(PMM2):c.353C>G (p.Thr118Ser)
|
|
|
NM_000303.3(PMM2):c.354T>C (p.Thr118=)
|
rs2141022957
|
|
NM_000303.3(PMM2):c.355T>C (p.Phe119Leu)
|
rs1057517110
|
|
NM_000303.3(PMM2):c.356T>C (p.Phe119Ser)
|
|
|
NM_000303.3(PMM2):c.357C>T (p.Phe119=)
|
rs80338701
|
|
NM_000303.3(PMM2):c.359T>A (p.Ile120Asn)
|
|
|
NM_000303.3(PMM2):c.360T>G (p.Ile120Met)
|
|
|
NM_000303.3(PMM2):c.363A>T (p.Glu121Asp)
|
rs2141022972
|
|
NM_000303.3(PMM2):c.365del (p.Phe122fs)
|
|
|
NM_000303.3(PMM2):c.366C>G (p.Phe122Leu)
|
|
|
NM_000303.3(PMM2):c.375G>A (p.Gly125=)
|
|
|
NM_000303.3(PMM2):c.375G>T (p.Gly125=)
|
|
|
NM_000303.3(PMM2):c.377_381del (p.Met126fs)
|
rs2141022986
|
|
NM_000303.3(PMM2):c.385G>A (p.Val129Met)
|
rs104894525
|
|
NM_000303.3(PMM2):c.385G>T (p.Val129Leu)
|
rs104894525
|
|
NM_000303.3(PMM2):c.386T>C (p.Val129Ala)
|
|
|
NM_000303.3(PMM2):c.387G>A (p.Val129=)
|
rs1310455453
|
|
NM_000303.3(PMM2):c.387G>C (p.Val129=)
|
|
|
NM_000303.3(PMM2):c.390C>G (p.Ser130=)
|
rs763944822
|
|
NM_000303.3(PMM2):c.391C>G (p.Pro131Ala)
|
|
|
NM_000303.3(PMM2):c.392del (p.Pro131fs)
|
rs1555449607
|
|
NM_000303.3(PMM2):c.394A>T (p.Ile132Phe)
|
rs753632453
|
|
NM_000303.3(PMM2):c.395T>A (p.Ile132Asn)
|
|
|
NM_000303.3(PMM2):c.396T>A (p.Ile132=)
|
|
|
NM_000303.3(PMM2):c.396T>C (p.Ile132=)
|
rs750388534
|
|
NM_000303.3(PMM2):c.399A>G (p.Gly133=)
|
rs886043741
|
|
NM_000303.3(PMM2):c.405C>A (p.Ser135Arg)
|
|
|
NM_000303.3(PMM2):c.405C>T (p.Ser135=)
|
|
|
NM_000303.3(PMM2):c.40G>A (p.Asp14Asn)
|
rs1473030550
|
|
NM_000303.3(PMM2):c.410G>C (p.Ser137Thr)
|
rs2060675203
|
|
NM_000303.3(PMM2):c.414del (p.Glu139fs)
|
rs755008774
|
|
NM_000303.3(PMM2):c.415G>A (p.Glu139Lys)
|
rs80338703
|
|
NM_000303.3(PMM2):c.430T>G (p.Phe144Val)
|
|
|
NM_000303.3(PMM2):c.431T>G (p.Phe144Cys)
|
rs2141023054
|
|
NM_000303.3(PMM2):c.432C>A (p.Phe144Leu)
|
rs1555449617
|
|
NM_000303.3(PMM2):c.434A>G (p.Tyr145Cys)
|
|
|
NM_000303.3(PMM2):c.441C>G (p.Leu147=)
|
rs146990448
|
|
NM_000303.3(PMM2):c.442G>T (p.Asp148Tyr)
|
|
|
NM_000303.3(PMM2):c.444T>C (p.Asp148=)
|
rs2141023076
|
|
NM_000303.3(PMM2):c.447+11C>A
|
|
|
NM_000303.3(PMM2):c.447+19T>A
|
|
|
NM_000303.3(PMM2):c.447+19T>C
|
rs11074924
|
|
NM_000303.3(PMM2):c.447+2T>A
|
rs1567160054
|
|
NM_000303.3(PMM2):c.447+7C>A
|
rs1365835297
|
|
NM_000303.3(PMM2):c.447+7C>G
|
rs1365835297
|
|
NM_000303.3(PMM2):c.447+7C>T
|
|
|
NM_000303.3(PMM2):c.447+8T>C
|
|
|
NM_000303.3(PMM2):c.447A>T (p.Lys149Asn)
|
|
|
NM_000303.3(PMM2):c.448-11G>A
|
|
|
NM_000303.3(PMM2):c.448-13_448-12del
|
rs1000876069
|
|
NM_000303.3(PMM2):c.448-15T>C
|
|
|
NM_000303.3(PMM2):c.448-16T>C
|
|
|
NM_000303.3(PMM2):c.448-18T>A
|
|
|
NM_000303.3(PMM2):c.448-18T>C
|
|
|
NM_000303.3(PMM2):c.448-1G>A
|
rs762937296
|
|
NM_000303.3(PMM2):c.448-1_448del
|
rs1414007551
|
|
NM_000303.3(PMM2):c.448-23_448-18del
|
rs747968957
|
|
NM_000303.3(PMM2):c.448-2A>G
|
rs2141023331
|
|
NM_000303.3(PMM2):c.448-2A>T
|
rs2141023331
|
|
NM_000303.3(PMM2):c.44G>C (p.Gly15Ala)
|
rs958073558
|
|
NM_000303.3(PMM2):c.451G>T (p.Glu151Ter)
|
rs2141023340
|
|
NM_000303.3(PMM2):c.451_454del
|
rs1274794195
|
|
NM_000303.3(PMM2):c.454_455del (p.Asn152fs)
|
rs771240150
|
|
NM_000303.3(PMM2):c.457A>G (p.Ile153Val)
|
rs1596489094
|
|
NM_000303.3(PMM2):c.457dup (p.Ile153fs)
|
rs2141023345
|
|
NM_000303.3(PMM2):c.458T>A (p.Ile153Lys)
|
|
|
NM_000303.3(PMM2):c.458T>G (p.Ile153Arg)
|
rs150577656
|
|
NM_000303.3(PMM2):c.458_462del (p.Ile153fs)
|
rs774738702
|
|
NM_000303.3(PMM2):c.459A>G (p.Ile153Met)
|
|
|
NM_000303.3(PMM2):c.45G>C (p.Gly15=)
|
rs2141014144
|
|
NM_000303.3(PMM2):c.460A>T (p.Arg154Ter)
|
|
|
NM_000303.3(PMM2):c.463C>G (p.Gln155Glu)
|
|
|
NM_000303.3(PMM2):c.463C>T (p.Gln155Ter)
|
rs754407762
|
|
NM_000303.3(PMM2):c.467_468delinsT (p.Lys156fs)
|
|
|
NM_000303.3(PMM2):c.470T>G (p.Phe157Cys)
|
|
|
NM_000303.3(PMM2):c.472G>A (p.Val158Ile)
|
rs969802549
|
|
NM_000303.3(PMM2):c.477A>G (p.Ala159=)
|
|
|
NM_000303.3(PMM2):c.47C>T (p.Thr16Ile)
|
rs1162452555
|
|
NM_000303.3(PMM2):c.483A>G (p.Leu161=)
|
|
|
NM_000303.3(PMM2):c.483A>T (p.Leu161=)
|
rs1433032795
|
|
NM_000303.3(PMM2):c.485G>A (p.Arg162Gln)
|
|
|
NM_000303.3(PMM2):c.485G>C (p.Arg162Pro)
|
|
|
NM_000303.3(PMM2):c.486G>T (p.Arg162=)
|
|
|
NM_000303.3(PMM2):c.488A>C (p.Lys163Thr)
|
|
|
NM_000303.3(PMM2):c.488_491del (p.Lys163fs)
|
rs2060678732
|
|
NM_000303.3(PMM2):c.48C>A (p.Thr16=)
|
|
|
NM_000303.3(PMM2):c.490G>C (p.Glu164Gln)
|
rs2060678778
|
|
NM_000303.3(PMM2):c.4G>A (p.Ala2Thr)
|
rs2141014078
|
|
NM_000303.3(PMM2):c.507C>T (p.Gly169=)
|
rs2141023382
|
|
NM_000303.3(PMM2):c.508C>T (p.Leu170Phe)
|
rs183384745
|
|
NM_000303.3(PMM2):c.511dup (p.Thr171fs)
|
rs1057516323
|
|
NM_000303.3(PMM2):c.512C>T (p.Thr171Met)
|
|
|
NM_000303.3(PMM2):c.513G>C (p.Thr171=)
|
|
|
NM_000303.3(PMM2):c.51C>A (p.Leu17=)
|
rs753546439
|
|
NM_000303.3(PMM2):c.51C>G (p.Leu17=)
|
|
|
NM_000303.3(PMM2):c.521T>C (p.Ile174Thr)
|
|
|
NM_000303.3(PMM2):c.522A>G (p.Ile174Met)
|
|
|
NM_000303.3(PMM2):c.523+10A>G
|
rs2141023411
|
|
NM_000303.3(PMM2):c.523+11T>C
|
|
|
NM_000303.3(PMM2):c.523+13T>C
|
|
|
NM_000303.3(PMM2):c.523+14T>C
|
|
|
NM_000303.3(PMM2):c.523+15G>A
|
|
|
NM_000303.3(PMM2):c.523+16C>G
|
|
|
NM_000303.3(PMM2):c.523+18T>A
|
|
|
NM_000303.3(PMM2):c.523+19G>C
|
|
|
NM_000303.3(PMM2):c.523+1del
|
rs2141023403
|
|
NM_000303.3(PMM2):c.523+5T>C
|
|
|
NM_000303.3(PMM2):c.523G>C (p.Gly175Arg)
|
|
|
NM_000303.3(PMM2):c.523G>T (p.Gly175Ter)
|
|
|
NM_000303.3(PMM2):c.524-10C>T
|
|
|
NM_000303.3(PMM2):c.524-13C>G
|
|
|
NM_000303.3(PMM2):c.524-15G>C
|
|
|
NM_000303.3(PMM2):c.524-17C>A
|
|
|
NM_000303.3(PMM2):c.524-17C>T
|
|
|
NM_000303.3(PMM2):c.524-2A>G
|
rs1555449780
|
|
NM_000303.3(PMM2):c.524-4G>T
|
|
|
NM_000303.3(PMM2):c.524-4del
|
rs1315129289
|
|
NM_000303.3(PMM2):c.524-6del
|
rs746143153
|
|
NM_000303.3(PMM2):c.524-7C>T
|
rs2141024194
|
|
NM_000303.3(PMM2):c.524-9A>C
|
rs2141024190
|
|
NM_000303.3(PMM2):c.527G>A (p.Gly176Asp)
|
rs940938678
|
|
NM_000303.3(PMM2):c.527G>T (p.Gly176Val)
|
rs940938678
|
|
NM_000303.3(PMM2):c.528C>T (p.Gly176=)
|
|
|
NM_000303.3(PMM2):c.52A>G (p.Thr18Ala)
|
|
|
NM_000303.3(PMM2):c.531G>A (p.Gln177=)
|
|
|
NM_000303.3(PMM2):c.534C>G (p.Ile178Met)
|
|
|
NM_000303.3(PMM2):c.534C>T (p.Ile178=)
|
|
|
NM_000303.3(PMM2):c.537C>T (p.Ser179=)
|
|
|
NM_000303.3(PMM2):c.539T>C (p.Phe180Ser)
|
rs1293479073
|
|
NM_000303.3(PMM2):c.544G>C (p.Val182Leu)
|
rs750862179
|
|
NM_000303.3(PMM2):c.54C>T (p.Thr18=)
|
|
|
NM_000303.3(PMM2):c.550C>A (p.Pro184Thr)
|
rs1555449795
|
|
NM_000303.3(PMM2):c.552T>C (p.Pro184=)
|
rs560182098
|
|
NM_000303.3(PMM2):c.554A>G (p.Asp185Gly)
|
rs1386173214
|
|
NM_000303.3(PMM2):c.556G>A (p.Gly186Arg)
|
rs1384610957
|
|
NM_000303.3(PMM2):c.558A>G (p.Gly186=)
|
|
|
NM_000303.3(PMM2):c.55del (p.Ala19fs)
|
rs1596481889
|
|
NM_000303.3(PMM2):c.561G>A (p.Trp187Ter)
|
rs201855351
|
|
NM_000303.3(PMM2):c.562G>T (p.Asp188Tyr)
|
rs2141024241
|
|
NM_000303.3(PMM2):c.562del (p.Asp188fs)
|
|
|
NM_000303.3(PMM2):c.564C>A (p.Asp188Glu)
|
|
|
NM_000303.3(PMM2):c.564C>T (p.Asp188=)
|
rs2060686207
|
|
NM_000303.3(PMM2):c.566_571delinsGTGGATTTCC (p.Lys189fs)
|
rs2060686245
|
|
NM_000303.3(PMM2):c.567G>A (p.Lys189=)
|
|
|
NM_000303.3(PMM2):c.568A>C (p.Arg190=)
|
|
|
NM_000303.3(PMM2):c.56C>T (p.Ala19Val)
|
rs750307011
|
|
NM_000303.3(PMM2):c.571T>C (p.Tyr191His)
|
rs1267170921
|
|
NM_000303.3(PMM2):c.573C>A (p.Tyr191Ter)
|
rs201440361
|
|
NM_000303.3(PMM2):c.574T>A (p.Cys192Ser)
|
|
|
NM_000303.3(PMM2):c.574T>C (p.Cys192Arg)
|
|
|
NM_000303.3(PMM2):c.577C>G (p.Leu193Val)
|
|
|
NM_000303.3(PMM2):c.584_585del (p.His195fs)
|
|
|
NM_000303.3(PMM2):c.585T>C (p.His195=)
|
rs2141024274
|
|
NM_000303.3(PMM2):c.593A>G (p.Asn198Ser)
|
rs773420873
|
|
NM_000303.3(PMM2):c.598G>A (p.Gly200Ser)
|
|
|
NM_000303.3(PMM2):c.599G>T (p.Gly200Val)
|
|
|
NM_000303.3(PMM2):c.59C>G (p.Pro20Arg)
|
rs2060588870
|
|
NM_000303.3(PMM2):c.59C>T (p.Pro20Leu)
|
|
|
NM_000303.3(PMM2):c.59del (p.Pro20fs)
|
rs2141014161
|
|
NM_000303.3(PMM2):c.600T>A (p.Gly200=)
|
|
|
NM_000303.3(PMM2):c.602A>G (p.Tyr201Cys)
|
|
|
NM_000303.3(PMM2):c.603T>C (p.Tyr201=)
|
|
|
NM_000303.3(PMM2):c.603T>G (p.Tyr201Ter)
|
rs1202400777
|
|
NM_000303.3(PMM2):c.609C>T (p.Thr203=)
|
|
|
NM_000303.3(PMM2):c.60G>A (p.Pro20=)
|
rs2141014167
|
|
NM_000303.3(PMM2):c.615T>C (p.Tyr205=)
|
|
|
NM_000303.3(PMM2):c.617del (p.Phe206fs)
|
rs1555449810
|
|
NM_000303.3(PMM2):c.618C>A (p.Phe206Leu)
|
rs1460691341
|
|
NM_000303.3(PMM2):c.618C>T (p.Phe206=)
|
rs1460691341
|
|
NM_000303.3(PMM2):c.61C>A (p.Arg21=)
|
rs758340382
|
|
NM_000303.3(PMM2):c.61C>G (p.Arg21Gly)
|
rs758340382
|
|
NM_000303.3(PMM2):c.61C>T (p.Arg21Trp)
|
rs758340382
|
|
NM_000303.3(PMM2):c.61dup (p.Arg21fs)
|
|
|
NM_000303.3(PMM2):c.621T>C (p.Phe207=)
|
|
|
NM_000303.3(PMM2):c.627C>G (p.Asp209Glu)
|
|
|
NM_000303.3(PMM2):c.631A>G (p.Thr211Ala)
|
|
|
NM_000303.3(PMM2):c.633T>C (p.Thr211=)
|
rs749542076
|
|
NM_000303.3(PMM2):c.639+19G>A
|
|
|
NM_000303.3(PMM2):c.639+1G>A
|
rs1057517183
|
|
NM_000303.3(PMM2):c.639+2T>C
|
|
|
NM_000303.3(PMM2):c.639+8G>C
|
|
|
NM_000303.3(PMM2):c.639+9A>G
|
|
|
NM_000303.3(PMM2):c.63G>A (p.Arg21=)
|
|
|
NM_000303.3(PMM2):c.640-12G>C
|
rs375325546
|
|
NM_000303.3(PMM2):c.640-13C>A
|
rs372181885
|
|
NM_000303.3(PMM2):c.640-16C>G
|
rs2141051377
|
|
NM_000303.3(PMM2):c.640-17A>C
|
|
|
NM_000303.3(PMM2):c.640-23A>G
|
rs981372486
|
|
NM_000303.3(PMM2):c.640-25_640-22dup
|
rs1555453228
|
|
NM_000303.3(PMM2):c.640-28C>G
|
rs181837170
|
|
NM_000303.3(PMM2):c.640-4C>G
|
|
|
NM_000303.3(PMM2):c.640G>A (p.Gly214Ser)
|
rs1555453238
|
|
NM_000303.3(PMM2):c.640G>C (p.Gly214Arg)
|
|
|
NM_000303.3(PMM2):c.646A>G (p.Asn216Asp)
|
|
|
NM_000303.3(PMM2):c.647A>T (p.Asn216Ile)
|
rs78290141
|
|
NM_000303.3(PMM2):c.64C>T (p.Gln22Ter)
|
|
|
NM_000303.3(PMM2):c.651C>A (p.Asp217Glu)
|
rs752614554
|
|
NM_000303.3(PMM2):c.651C>T (p.Asp217=)
|
rs752614554
|
|
NM_000303.3(PMM2):c.653A>T (p.His218Leu)
|
rs80338705
|
|
NM_000303.3(PMM2):c.653dup (p.His218fs)
|
rs1555453241
|
|
NM_000303.3(PMM2):c.66+10G>A
|
rs747786171
|
|
NM_000303.3(PMM2):c.66+10_66+12del
|
rs1213382634
|
|
NM_000303.3(PMM2):c.66+12C>T
|
|
|
NM_000303.3(PMM2):c.66+13C>T
|
|
|
NM_000303.3(PMM2):c.66+13_66+20del
|
rs1596481910
|
|
NM_000303.3(PMM2):c.66+17G>A
|
|
|
NM_000303.3(PMM2):c.66+1G>A
|
rs937726878
|
|
NM_000303.3(PMM2):c.66+1del
|
rs1555495965
|
|
NM_000303.3(PMM2):c.66+20C>G
|
|
|
NM_000303.3(PMM2):c.66+9C>A
|
|
|
NM_000303.3(PMM2):c.66+9C>T
|
|
|
NM_000303.3(PMM2):c.660C>G (p.Ile220Met)
|
|
|
NM_000303.3(PMM2):c.663C>T (p.Phe221=)
|
rs199927358
|
|
NM_000303.3(PMM2):c.666A>G (p.Thr222=)
|
rs770457654
|
|
NM_000303.3(PMM2):c.667G>A (p.Asp223Asn)
|
|
|
NM_000303.3(PMM2):c.669C>A (p.Asp223Glu)
|
|
|
NM_000303.3(PMM2):c.669C>G (p.Asp223Glu)
|
rs104894531
|
|
NM_000303.3(PMM2):c.669C>T (p.Asp223=)
|
rs104894531
|
|
NM_000303.3(PMM2):c.66_66+1delinsTA
|
|
|
NM_000303.3(PMM2):c.67-15T>C
|
|
|
NM_000303.3(PMM2):c.67-1G>C
|
|
|
NM_000303.3(PMM2):c.67-20T>C
|
|
|
NM_000303.3(PMM2):c.67-2A>G
|
|
|
NM_000303.3(PMM2):c.67-2A>T
|
rs1555448897
|
|
NM_000303.3(PMM2):c.67-6A>G
|
|
|
NM_000303.3(PMM2):c.67-8A>G
|
|
|
NM_000303.3(PMM2):c.671C>G (p.Pro224Arg)
|
rs778488908
|
|
NM_000303.3(PMM2):c.671C>T (p.Pro224Leu)
|
|
|
NM_000303.3(PMM2):c.672C>T (p.Pro224=)
|
rs2141051463
|
|
NM_000303.3(PMM2):c.677C>G (p.Thr226Ser)
|
rs80338706
|
|
NM_000303.3(PMM2):c.677C>T (p.Thr226Ile)
|
|
|
NM_000303.3(PMM2):c.678C>T (p.Thr226=)
|
rs1480238805
|
|
NM_000303.3(PMM2):c.682G>A (p.Gly228Ser)
|
|
|
NM_000303.3(PMM2):c.682G>C (p.Gly228Arg)
|
|
|
NM_000303.3(PMM2):c.682G>T (p.Gly228Cys)
|
rs558826439
|
|
NM_000303.3(PMM2):c.687C>A (p.Tyr229Ter)
|
|
|
NM_000303.3(PMM2):c.687C>G (p.Tyr229Ter)
|
rs148759949
|
|
NM_000303.3(PMM2):c.687C>T (p.Tyr229=)
|
|
|
NM_000303.3(PMM2):c.691G>C (p.Val231Leu)
|
|
|
NM_000303.3(PMM2):c.691G>T (p.Val231Leu)
|
|
|
NM_000303.3(PMM2):c.693G>T (p.Val231=)
|
|
|
NM_000303.3(PMM2):c.696A>G (p.Thr232=)
|
rs2141051514
|
|
NM_000303.3(PMM2):c.696del (p.Ala233fs)
|
rs2141051516
|
|
NM_000303.3(PMM2):c.697G>A (p.Ala233Thr)
|
|
|
NM_000303.3(PMM2):c.701C>T (p.Pro234Leu)
|
|
|
NM_000303.3(PMM2):c.703G>C (p.Glu235Gln)
|
|
|
NM_000303.3(PMM2):c.703G>T (p.Glu235Ter)
|
rs763091085
|
|
NM_000303.3(PMM2):c.705G>A (p.Glu235=)
|
|
|
NM_000303.3(PMM2):c.706G>A (p.Asp236Asn)
|
|
|
NM_000303.3(PMM2):c.708C>G (p.Asp236Glu)
|
|
|
NM_000303.3(PMM2):c.708C>T (p.Asp236=)
|
rs752495420
|
|
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg)
|
rs80338708
|
|
NM_000303.3(PMM2):c.710C>T (p.Thr237Met)
|
rs80338708
|
|
NM_000303.3(PMM2):c.711G>C (p.Thr237=)
|
|
|
NM_000303.3(PMM2):c.713G>C (p.Arg238Pro)
|
rs151319324
|
|
NM_000303.3(PMM2):c.714C>G (p.Arg238=)
|
rs141562154
|
|
NM_000303.3(PMM2):c.715A>T (p.Arg239Trp)
|
|
|
NM_000303.3(PMM2):c.716G>C (p.Arg239Thr)
|
|
|
NM_000303.3(PMM2):c.717G>C (p.Arg239Ser)
|
|
|
NM_000303.3(PMM2):c.717G>T (p.Arg239Ser)
|
|
|
NM_000303.3(PMM2):c.720C>T (p.Ile240=)
|
|
|
NM_000303.3(PMM2):c.721T>C (p.Cys241Arg)
|
|
|
NM_000303.3(PMM2):c.723T>G (p.Cys241Trp)
|
|
|
NM_000303.3(PMM2):c.728T>C (p.Leu243Pro)
|
rs2060937980
|
|
NM_000303.3(PMM2):c.72del (p.Thr25fs)
|
rs2060617981
|
|
NM_000303.3(PMM2):c.730C>T (p.Leu244=)
|
rs1205209003
|
|
NM_000303.3(PMM2):c.732G>C (p.Leu244=)
|
rs1164763496
|
|
NM_000303.3(PMM2):c.735C>G (p.Phe245Leu)
|
|
|
NM_000303.3(PMM2):c.737C>A (p.Ser246Tyr)
|
rs769177253
|
|
NM_000303.3(PMM2):c.737_739del (p.Ser246del)
|
rs764817746
|
|
NM_000303.3(PMM2):c.739T>C (p.Ter247Gln)
|
rs1555453271
|
|
NM_000303.3(PMM2):c.73dup (p.Thr25fs)
|
rs2141016934
|
|
NM_000303.3(PMM2):c.75C>G (p.Thr25=)
|
rs1172729028
|
|
NM_000303.3(PMM2):c.76A>G (p.Lys26Glu)
|
|
|
NM_000303.3(PMM2):c.76A>T (p.Lys26Ter)
|
|
|
NM_000303.3(PMM2):c.78A>G (p.Lys26=)
|
|
|
NM_000303.3(PMM2):c.79G>T (p.Glu27Ter)
|
|
|
NM_000303.3(PMM2):c.93C>T (p.Phe31=)
|
rs61730638
|
|
NM_000303.3(PMM2):c.94C>G (p.Leu32Val)
|
|
|
NM_000303.3(PMM2):c.94C>T (p.Leu32=)
|
|
|
NM_000303.3(PMM2):c.95_96delinsGC (p.Leu32Arg)
|
rs398123312
|
|
NM_000303.3(PMM2):c.96A>G (p.Leu32=)
|
|
|
NM_000303.3(PMM2):c.96A>T (p.Leu32=)
|
|
|
NM_000303.3(PMM2):c.9G>C (p.Ala3=)
|
rs2060588329
|
|
NM_001004127.3(ALG11):c.1036C>T (p.Arg346Cys)
|
|
|
NM_001004127.3(ALG11):c.1142T>C (p.Leu381Ser)
|
rs387907182
|
|
NM_001004127.3(ALG11):c.1184T>C (p.Met395Thr)
|
rs2140840645
|
|
NM_001004127.3(ALG11):c.1191C>T (p.Asn397=)
|
rs141089354
|
|
NM_001004127.3(ALG11):c.1192G>A (p.Glu398Lys)
|
rs387907183
|
|
NM_001004127.3(ALG11):c.1220G>T (p.Cys407Phe)
|
|
|
NM_001004127.3(ALG11):c.1223T>G (p.Met408Arg)
|
rs1064795803
|
|
NM_001004127.3(ALG11):c.1241T>A (p.Ile414Asn)
|
rs398123525
|
|
NM_001004127.3(ALG11):c.1273G>A (p.Asp425Asn)
|
|
|
NM_001004127.3(ALG11):c.1349C>T (p.Ala450Val)
|
rs757069433
|
|
NM_001004127.3(ALG11):c.137T>C (p.Leu46Pro)
|
rs794727256
|
|
NM_001004127.3(ALG11):c.1462G>T (p.Glu488Ter)
|
|
|
NM_001004127.3(ALG11):c.1476_1479del (p.Lys492fs)
|
|
|
NM_001004127.3(ALG11):c.168C>G (p.Ser56Arg)
|
rs1954160784
|
|
NM_001004127.3(ALG11):c.187A>T (p.Met63Leu)
|
rs2140832522
|
|
NM_001004127.3(ALG11):c.18G>A (p.Arg6=)
|
rs1393492365
|
|
NM_001004127.3(ALG11):c.190G>A (p.Val64Met)
|
rs1419202736
|
|
NM_001004127.3(ALG11):c.1A>G (p.Met1Val)
|
rs921941078
|
|
NM_001004127.3(ALG11):c.238A>G (p.Arg80Gly)
|
|
|
NM_001004127.3(ALG11):c.251G>A (p.Cys84Tyr)
|
|
|
NM_001004127.3(ALG11):c.257T>C (p.Leu86Ser)
|
rs267606652
|
|
NM_001004127.3(ALG11):c.27C>A (p.Cys9Ter)
|
|
|
NM_001004127.3(ALG11):c.281C>G (p.Pro94Arg)
|
rs771281050
|
|
NM_001004127.3(ALG11):c.2T>C (p.Met1Thr)
|
rs2140807775
|
|
NM_001004127.3(ALG11):c.306C>T (p.Thr102=)
|
|
|
NM_001004127.3(ALG11):c.309C>T (p.Gly103=)
|
|
|
NM_001004127.3(ALG11):c.31T>G (p.Cys11Gly)
|
rs1444016944
|
|
NM_001004127.3(ALG11):c.364A>C (p.Ile122Leu)
|
|
|
NM_001004127.3(ALG11):c.402G>A (p.Arg134=)
|
rs2140838895
|
|
NM_001004127.3(ALG11):c.44+14C>G
|
|
|
NM_001004127.3(ALG11):c.445C>T (p.Leu149=)
|
|
|
NM_001004127.3(ALG11):c.494T>C (p.Met165Thr)
|
|
|
NM_001004127.3(ALG11):c.526A>G (p.Met176Val)
|
rs1268308514
|
|
NM_001004127.3(ALG11):c.534C>T (p.Tyr178=)
|
|
|
NM_001004127.3(ALG11):c.5C>T (p.Ala2Val)
|
rs1363416785
|
|
NM_001004127.3(ALG11):c.612C>T (p.Thr204=)
|
|
|
NM_001004127.3(ALG11):c.623_642del (p.Ser208fs)
|
rs387907180
|
|
NM_001004127.3(ALG11):c.636T>G (p.Asn212Lys)
|
rs1954216629
|
|
NM_001004127.3(ALG11):c.662C>G (p.Ala221Gly)
|
rs142637770
|
|
NM_001004127.3(ALG11):c.678T>C (p.Asn226=)
|
rs1593903157
|
|
NM_001004127.3(ALG11):c.6G>A (p.Ala2=)
|
|
|
NM_001004127.3(ALG11):c.75C>T (p.Leu25=)
|
rs886050312
|
|
NM_001004127.3(ALG11):c.770A>G (p.Asn257Ser)
|
|
|
NM_001004127.3(ALG11):c.778T>C (p.Trp260Arg)
|
|
|
NM_001004127.3(ALG11):c.823A>G (p.Thr275Ala)
|
rs1401571024
|
|
NM_001004127.3(ALG11):c.836A>C (p.Tyr279Ser)
|
rs387907181
|
|
NM_001004127.3(ALG11):c.899G>A (p.Gly300Glu)
|
rs1593903383
|
|
NM_001004127.3(ALG11):c.900A>T (p.Gly300=)
|
rs376118160
|
|
NM_001004127.3(ALG11):c.932C>T (p.Pro311Leu)
|
|
|
NM_001004127.3(ALG11):c.935A>G (p.Glu312Gly)
|
rs1064795802
|
|
NM_001004127.3(ALG11):c.937A>G (p.Lys313Glu)
|
rs2140840089
|
|
NM_001004127.3(ALG11):c.953A>C (p.Gln318Pro)
|
rs387907184
|
|
NM_001004127.3(ALG11):c.983AGA[1] (p.Lys329del)
|
rs1064794465
|
|
NM_001004127.3(ALG11):c.991G>T (p.Val331Phe)
|
rs750430228
|
|
NM_001006941.2(ALG3):c.46G>T (p.Gly16Trp)
|
rs373046727
|
|
NM_001099922.3(ALG13):c.1001A>G (p.Asp334Gly)
|
rs1940092970
|
|
NM_001099922.3(ALG13):c.1002C>T (p.Asp334=)
|
|
|
NM_001099922.3(ALG13):c.1003A>C (p.Lys335Gln)
|
|
|
NM_001099922.3(ALG13):c.1005+10T>A
|
|
|
NM_001099922.3(ALG13):c.1005+13G>A
|
|
|
NM_001099922.3(ALG13):c.1005+14T>C
|
|
|
NM_001099922.3(ALG13):c.1006-16G>A
|
|
|
NM_001099922.3(ALG13):c.1006-18C>G
|
|
|
NM_001099922.3(ALG13):c.1006-19T>A
|
|
|
NM_001099922.3(ALG13):c.1006A>G (p.Ile336Val)
|
|
|
NM_001099922.3(ALG13):c.1019A>G (p.Tyr340Cys)
|
|
|
NM_001099922.3(ALG13):c.1027A>T (p.Ser343Cys)
|
|
|
NM_001099922.3(ALG13):c.1028G>A (p.Ser343Asn)
|
|
|
NM_001099922.3(ALG13):c.1070G>A (p.Ser357Asn)
|
|
|
NM_001099922.3(ALG13):c.1087+10G>A
|
|
|
NM_001099922.3(ALG13):c.1087+12C>T
|
|
|
NM_001099922.3(ALG13):c.1087+9A>C
|
|
|
NM_001099922.3(ALG13):c.1088-12T>A
|
|
|
NM_001099922.3(ALG13):c.1088-14C>T
|
|
|
NM_001099922.3(ALG13):c.1088-16A>T
|
|
|
NM_001099922.3(ALG13):c.1098C>T (p.Tyr366=)
|
|
|
NM_001099922.3(ALG13):c.1110T>C (p.Tyr370=)
|
|
|
NM_001099922.3(ALG13):c.1114G>A (p.Asp372Asn)
|
rs2148112840
|
|
NM_001099922.3(ALG13):c.1125T>C (p.Val375=)
|
|
|
NM_001099922.3(ALG13):c.1143G>C (p.Leu381Phe)
|
|
|
NM_001099922.3(ALG13):c.1144A>G (p.Lys382Glu)
|
rs1940898635
|
|
NM_001099922.3(ALG13):c.114C>G (p.Ile38Met)
|
rs1206750653
|
|
NM_001099922.3(ALG13):c.1154T>G (p.Ile385Ser)
|
|
|
NM_001099922.3(ALG13):c.1167A>G (p.Arg389=)
|
|
|
NM_001099922.3(ALG13):c.1176T>G (p.Ser392=)
|
|
|
NM_001099922.3(ALG13):c.1183A>C (p.Asn395His)
|
rs1602694279
|
|
NM_001099922.3(ALG13):c.1185C>T (p.Asn395=)
|
|
|
NM_001099922.3(ALG13):c.1186A>C (p.Arg396=)
|
|
|
NM_001099922.3(ALG13):c.1194T>C (p.Asn398=)
|
|
|
NM_001099922.3(ALG13):c.120A>C (p.Gln40His)
|
rs2147624939
|
|
NM_001099922.3(ALG13):c.1221T>C (p.His407=)
|
rs1602694489
|
|
NM_001099922.3(ALG13):c.1225G>C (p.Asp409His)
|
rs940730126
|
|
NM_001099922.3(ALG13):c.1245G>A (p.Gln415=)
|
|
|
NM_001099922.3(ALG13):c.1250+14A>G
|
|
|
NM_001099922.3(ALG13):c.1250+8del
|
rs2148114059
|
|
NM_001099922.3(ALG13):c.1251-18C>T
|
|
|
NM_001099922.3(ALG13):c.1251-4T>C
|
rs1602705501
|
|
NM_001099922.3(ALG13):c.1260G>A (p.Glu420=)
|
|
|
NM_001099922.3(ALG13):c.1264G>A (p.Gly422Ser)
|
rs990346795
|
|
NM_001099922.3(ALG13):c.126T>A (p.Gly42=)
|
|
|
NM_001099922.3(ALG13):c.12G>A (p.Val4=)
|
rs781450458
|
|
NM_001099922.3(ALG13):c.1310G>A (p.Gly437Glu)
|
|
|
NM_001099922.3(ALG13):c.1317A>C (p.Glu439Asp)
|
|
|
NM_001099922.3(ALG13):c.1318G>A (p.Glu440Lys)
|
rs2148136453
|
|
NM_001099922.3(ALG13):c.131G>A (p.Gly44Glu)
|
|
|
NM_001099922.3(ALG13):c.1326+12T>C
|
|
|
NM_001099922.3(ALG13):c.1326+15A>G
|
|
|
NM_001099922.3(ALG13):c.1326+22del
|
|
|
NM_001099922.3(ALG13):c.1326+3T>A
|
|
|
NM_001099922.3(ALG13):c.135G>A (p.Thr45=)
|
|
|
NM_001099922.3(ALG13):c.135G>C (p.Thr45=)
|
|
|
NM_001099922.3(ALG13):c.1365G>A (p.Lys455=)
|
|
|
NM_001099922.3(ALG13):c.1435+12T>G
|
|
|
NM_001099922.3(ALG13):c.1435+15A>G
|
|
|
NM_001099922.3(ALG13):c.1435+16C>G
|
rs2148153415
|
|
NM_001099922.3(ALG13):c.1435+19G>C
|
|
|
NM_001099922.3(ALG13):c.1436-11dup
|
|
|
NM_001099922.3(ALG13):c.1436-19C>A
|
|
|
NM_001099922.3(ALG13):c.1436-3T>C
|
|
|
NM_001099922.3(ALG13):c.1436-5A>G
|
|
|
NM_001099922.3(ALG13):c.1436-8T>C
|
|
|
NM_001099922.3(ALG13):c.1443A>G (p.Gln481=)
|
rs374692571
|
|
NM_001099922.3(ALG13):c.1449T>C (p.Ser483=)
|
|
|
NM_001099922.3(ALG13):c.1461G>A (p.Glu487=)
|
|
|
NM_001099922.3(ALG13):c.1473A>G (p.Arg491=)
|
rs1941545350
|
|
NM_001099922.3(ALG13):c.1474C>G (p.Gln492Glu)
|
|
|
NM_001099922.3(ALG13):c.1481A>G (p.Tyr494Cys)
|
|
|
NM_001099922.3(ALG13):c.1483T>G (p.Leu495Val)
|
|
|
NM_001099922.3(ALG13):c.1491C>A (p.Asp497Glu)
|
|
|
NM_001099922.3(ALG13):c.1500+12del
|
|
|
NM_001099922.3(ALG13):c.1500+13T>G
|
|
|
NM_001099922.3(ALG13):c.1501-12T>C
|
|
|
NM_001099922.3(ALG13):c.1501-18dup
|
|
|
NM_001099922.3(ALG13):c.1501-20T>C
|
|
|
NM_001099922.3(ALG13):c.1501-5T>C
|
|
|
NM_001099922.3(ALG13):c.1518A>T (p.Glu506Asp)
|
rs1941679245
|
|
NM_001099922.3(ALG13):c.1527T>C (p.Tyr509=)
|
|
|
NM_001099922.3(ALG13):c.1530T>C (p.Tyr510=)
|
|
|
NM_001099922.3(ALG13):c.1536T>C (p.Ala512=)
|
|
|
NM_001099922.3(ALG13):c.1562A>G (p.Asn521Ser)
|
|
|
NM_001099922.3(ALG13):c.156T>C (p.Ser52=)
|
|
|
NM_001099922.3(ALG13):c.1590A>G (p.Glu530=)
|
|
|
NM_001099922.3(ALG13):c.159T>C (p.Thr53=)
|
|
|
NM_001099922.3(ALG13):c.1601+11G>A
|
rs770867470
|
|
NM_001099922.3(ALG13):c.1601+17T>G
|
|
|
NM_001099922.3(ALG13):c.1601+18T>G
|
|
|
NM_001099922.3(ALG13):c.1601+9A>G
|
|
|
NM_001099922.3(ALG13):c.1602-15C>A
|
|
|
NM_001099922.3(ALG13):c.1602-15C>T
|
|
|
NM_001099922.3(ALG13):c.1619C>G (p.Ala540Gly)
|
rs1234385710
|
|
NM_001099922.3(ALG13):c.1629A>G (p.Lys543=)
|
|
|
NM_001099922.3(ALG13):c.1632A>C (p.Pro544=)
|
|
|
NM_001099922.3(ALG13):c.1632A>G (p.Pro544=)
|
|
|
NM_001099922.3(ALG13):c.1638C>G (p.Thr546=)
|
rs1602730496
|
|
NM_001099922.3(ALG13):c.1638C>T (p.Thr546=)
|
rs1602730496
|
|
NM_001099922.3(ALG13):c.1641A>T (p.Gln547His)
|
rs768589790
|
|
NM_001099922.3(ALG13):c.1642G>A (p.Val548Met)
|
rs1941813123
|
|
NM_001099922.3(ALG13):c.164C>T (p.Ser55Leu)
|
rs1933620653
|
|
NM_001099922.3(ALG13):c.1651G>C (p.Val551Leu)
|
|
|
NM_001099922.3(ALG13):c.1655C>G (p.Pro552Arg)
|
|
|
NM_001099922.3(ALG13):c.165G>A (p.Ser55=)
|
|
|
NM_001099922.3(ALG13):c.1671G>T (p.Met557Ile)
|
|
|
NM_001099922.3(ALG13):c.1674C>T (p.Pro558=)
|
rs2148191123
|
|
NM_001099922.3(ALG13):c.1685G>C (p.Gly562Ala)
|
|
|
NM_001099922.3(ALG13):c.1691G>T (p.Gly564Val)
|
|
|
NM_001099922.3(ALG13):c.1695C>T (p.Tyr565=)
|
|
|
NM_001099922.3(ALG13):c.1706C>T (p.Pro569Leu)
|
|
|
NM_001099922.3(ALG13):c.1707T>C (p.Pro569=)
|
rs1602730890
|
|
NM_001099922.3(ALG13):c.1722G>A (p.Pro574=)
|
|
|
NM_001099922.3(ALG13):c.1729+15G>A
|
|
|
NM_001099922.3(ALG13):c.1730-9G>A
|
rs767872924
|
|
NM_001099922.3(ALG13):c.1758G>A (p.Gln586=)
|
|
|
NM_001099922.3(ALG13):c.1780C>G (p.Arg594Gly)
|
|
|
NM_001099922.3(ALG13):c.1803T>A (p.Thr601=)
|
|
|
NM_001099922.3(ALG13):c.1805T>C (p.Met602Thr)
|
|
|
NM_001099922.3(ALG13):c.1818G>A (p.Lys606=)
|
|
|
NM_001099922.3(ALG13):c.1824C>T (p.Asp608=)
|
rs761077008
|
|
NM_001099922.3(ALG13):c.1830C>G (p.Leu610=)
|
rs771232900
|
|
NM_001099922.3(ALG13):c.1831C>G (p.Leu611Val)
|
rs199505558
|
|
NM_001099922.3(ALG13):c.1833C>T (p.Leu611=)
|
|
|
NM_001099922.3(ALG13):c.1838C>G (p.Pro613Arg)
|
|
|
NM_001099922.3(ALG13):c.1842G>T (p.Arg614Ser)
|
rs1942117760
|
|
NM_001099922.3(ALG13):c.1843C>G (p.Leu615Val)
|
rs374231091
|
|
NM_001099922.3(ALG13):c.1844T>G (p.Leu615Arg)
|
|
|
NM_001099922.3(ALG13):c.1845G>A (p.Leu615=)
|
|
|
NM_001099922.3(ALG13):c.1879A>G (p.Met627Val)
|
|
|
NM_001099922.3(ALG13):c.1886A>G (p.Tyr629Cys)
|
|
|
NM_001099922.3(ALG13):c.1888T>C (p.Ser630Pro)
|
rs1942124594
|
|
NM_001099922.3(ALG13):c.1895C>G (p.Thr632Arg)
|
rs1602745141
|
|
NM_001099922.3(ALG13):c.1900G>C (p.Gly634Arg)
|
|
|
NM_001099922.3(ALG13):c.1909A>G (p.Met637Val)
|
|
|
NM_001099922.3(ALG13):c.191A>G (p.Lys64Arg)
|
rs2147626333
|
|
NM_001099922.3(ALG13):c.1930C>G (p.Pro644Ala)
|
|
|
NM_001099922.3(ALG13):c.1931C>T (p.Pro644Leu)
|
|
|
NM_001099922.3(ALG13):c.1938T>C (p.His646=)
|
|
|
NM_001099922.3(ALG13):c.1941A>G (p.Pro647=)
|
rs1942135193
|
|
NM_001099922.3(ALG13):c.1945C>G (p.Pro649Ala)
|
|
|
NM_001099922.3(ALG13):c.1946C>T (p.Pro649Leu)
|
|
|
NM_001099922.3(ALG13):c.1968G>C (p.Gly656=)
|
|
|
NM_001099922.3(ALG13):c.1969A>G (p.Met657Val)
|
rs2148221188
|
|
NM_001099922.3(ALG13):c.1974C>T (p.Pro658=)
|
|
|
NM_001099922.3(ALG13):c.1976+11G>T
|
|
|
NM_001099922.3(ALG13):c.1976+14A>G
|
|
|
NM_001099922.3(ALG13):c.1976+16A>G
|
|
|
NM_001099922.3(ALG13):c.1976+20G>A
|
rs1556507692
|
|
NM_001099922.3(ALG13):c.1976+20G>T
|
|
|
NM_001099922.3(ALG13):c.1976+8A>G
|
|
|
NM_001099922.3(ALG13):c.1977-17T>A
|
|
|
NM_001099922.3(ALG13):c.1977G>A (p.Arg659=)
|
rs1942182184
|
|
NM_001099922.3(ALG13):c.197C>A (p.Ser66Tyr)
|
|
|
NM_001099922.3(ALG13):c.1983A>G (p.Ser661=)
|
|
|
NM_001099922.3(ALG13):c.1983A>T (p.Ser661=)
|
rs1241055923
|
|
NM_001099922.3(ALG13):c.1989G>A (p.Arg663=)
|
|
|
NM_001099922.3(ALG13):c.2003ACA[1] (p.Asn669del)
|
rs1489100083
|
|
NM_001099922.3(ALG13):c.2022A>T (p.Lys674Asn)
|
|
|
NM_001099922.3(ALG13):c.2023G>A (p.Val675Ile)
|
rs2148225487
|
|
NM_001099922.3(ALG13):c.2024T>G (p.Val675Gly)
|
rs2148225523
|
|
NM_001099922.3(ALG13):c.2027A>C (p.Asp676Ala)
|
|
|
NM_001099922.3(ALG13):c.2047A>G (p.Lys683Glu)
|
rs1942189447
|
|
NM_001099922.3(ALG13):c.2048A>G (p.Lys683Arg)
|
rs1942189933
|
|
NM_001099922.3(ALG13):c.2052G>A (p.Arg684=)
|
|
|
NM_001099922.3(ALG13):c.2053T>A (p.Cys685Ser)
|
|
|
NM_001099922.3(ALG13):c.2077T>A (p.Ser693Thr)
|
rs1942193577
|
|
NM_001099922.3(ALG13):c.2090+10G>T
|
|
|
NM_001099922.3(ALG13):c.2090+15G>A
|
|
|
NM_001099922.3(ALG13):c.2090+20_2090+23del
|
|
|
NM_001099922.3(ALG13):c.2090+22_2090+39del
|
|
|
NM_001099922.3(ALG13):c.2090+9T>C
|
|
|
NM_001099922.3(ALG13):c.2090G>A (p.Arg697His)
|
rs1416055334
|
|
NM_001099922.3(ALG13):c.2091-15T>C
|
rs2148227986
|
|
NM_001099922.3(ALG13):c.2091-17T>C
|
|
|
NM_001099922.3(ALG13):c.2091-17T>G
|
|
|
NM_001099922.3(ALG13):c.2091-18T>C
|
|
|
NM_001099922.3(ALG13):c.2091-4T>G
|
|
|
NM_001099922.3(ALG13):c.2091-7A>T
|
rs2148228043
|
|
NM_001099922.3(ALG13):c.2091-8C>G
|
rs939425312
|
|
NM_001099922.3(ALG13):c.2106T>G (p.Ser702Arg)
|
rs797044876
|
|
NM_001099922.3(ALG13):c.2108A>G (p.His703Arg)
|
|
|
NM_001099922.3(ALG13):c.2124T>C (p.Cys708=)
|
|
|
NM_001099922.3(ALG13):c.2133G>A (p.Lys711=)
|
|
|
NM_001099922.3(ALG13):c.2139C>A (p.Ser713=)
|
|
|
NM_001099922.3(ALG13):c.2142G>A (p.Gln714=)
|
rs1602749741
|
|
NM_001099922.3(ALG13):c.2144A>T (p.Tyr715Phe)
|
rs1569519563
|
|
NM_001099922.3(ALG13):c.2145T>C (p.Tyr715=)
|
|
|
NM_001099922.3(ALG13):c.2191A>G (p.Thr731Ala)
|
|
|
NM_001099922.3(ALG13):c.2193T>G (p.Thr731=)
|
|
|
NM_001099922.3(ALG13):c.2196T>A (p.Ile732=)
|
|
|
NM_001099922.3(ALG13):c.2199T>A (p.Thr733=)
|
|
|
NM_001099922.3(ALG13):c.21C>T (p.Thr7=)
|
rs1446370125
|
|
NM_001099922.3(ALG13):c.2205T>C (p.Tyr735=)
|
rs1060503802
|
|
NM_001099922.3(ALG13):c.2206G>A (p.Glu736Lys)
|
rs2148229477
|
|
NM_001099922.3(ALG13):c.2222A>G (p.Asp741Gly)
|
rs1942226321
|
|
NM_001099922.3(ALG13):c.2237C>T (p.Pro746Leu)
|
|
|
NM_001099922.3(ALG13):c.2239A>G (p.Thr747Ala)
|
|
|
NM_001099922.3(ALG13):c.2247+13A>G
|
|
|
NM_001099922.3(ALG13):c.2247+16C>T
|
|
|
NM_001099922.3(ALG13):c.2247+20A>G
|
|
|
NM_001099922.3(ALG13):c.2248-13C>G
|
|
|
NM_001099922.3(ALG13):c.2248-14TC[2]
|
rs746217514
|
|
NM_001099922.3(ALG13):c.2248-19G>A
|
|
|
NM_001099922.3(ALG13):c.2261C>T (p.Pro754Leu)
|
rs1242753495
|
|
NM_001099922.3(ALG13):c.2262C>T (p.Pro754=)
|
|
|
NM_001099922.3(ALG13):c.2265T>A (p.Ser755=)
|
|
|
NM_001099922.3(ALG13):c.2265T>C (p.Ser755=)
|
|
|
NM_001099922.3(ALG13):c.2280T>C (p.Ala760=)
|
rs753759357
|
|
NM_001099922.3(ALG13):c.2282C>T (p.Thr761Ile)
|
rs2148234911
|
|
NM_001099922.3(ALG13):c.2283T>C (p.Thr761=)
|
|
|
NM_001099922.3(ALG13):c.2286A>G (p.Ser762=)
|
|
|
NM_001099922.3(ALG13):c.2291A>G (p.Tyr764Cys)
|
|
|
NM_001099922.3(ALG13):c.2293T>C (p.Cys765Arg)
|
rs927961674
|
|
NM_001099922.3(ALG13):c.2296G>A (p.Val766Ile)
|
|
|
NM_001099922.3(ALG13):c.22G>C (p.Val8Leu)
|
rs2147592883
|
|
NM_001099922.3(ALG13):c.2304G>A (p.Arg768=)
|
|
|
NM_001099922.3(ALG13):c.2305C>T (p.Arg769Trp)
|
|
|
NM_001099922.3(ALG13):c.230T>C (p.Val77Ala)
|
rs1933636414
|
|
NM_001099922.3(ALG13):c.2316C>G (p.Ser772Arg)
|
rs1556509706
|
|
NM_001099922.3(ALG13):c.2328G>A (p.Gln776=)
|
|
|
NM_001099922.3(ALG13):c.2332T>G (p.Leu778Val)
|
rs755678773
|
|
NM_001099922.3(ALG13):c.2334G>C (p.Leu778Phe)
|
rs1942288359
|
|
NM_001099922.3(ALG13):c.2358G>T (p.Gln786His)
|
|
|
NM_001099922.3(ALG13):c.2367T>A (p.Asn789Lys)
|
|
|
NM_001099922.3(ALG13):c.2368+13_2368+14del
|
rs1942292917
|
|
NM_001099922.3(ALG13):c.2368+20A>G
|
|
|
NM_001099922.3(ALG13):c.2369-15G>A
|
|
|
NM_001099922.3(ALG13):c.2369-15_2369-11del
|
|
|
NM_001099922.3(ALG13):c.2369-17T>C
|
|
|
NM_001099922.3(ALG13):c.2369-20G>A
|
|
|
NM_001099922.3(ALG13):c.2373A>G (p.Arg791=)
|
rs1006542504
|
|
NM_001099922.3(ALG13):c.2373A>T (p.Arg791=)
|
rs1006542504
|
|
NM_001099922.3(ALG13):c.2380GAA[1] (p.Glu795del)
|
rs772766102
|
|
NM_001099922.3(ALG13):c.2384A>T (p.Glu795Val)
|
rs2148261992
|
|
NM_001099922.3(ALG13):c.2398G>T (p.Ala800Ser)
|
|
|
NM_001099922.3(ALG13):c.2401+20G>C
|
|
|
NM_001099922.3(ALG13):c.2401+9G>A
|
|
|
NM_001099922.3(ALG13):c.2402-11A>G
|
|
|
NM_001099922.3(ALG13):c.2402-14G>T
|
|
|
NM_001099922.3(ALG13):c.2402-20A>G
|
|
|
NM_001099922.3(ALG13):c.2402-3T>C
|
rs1942568665
|
|
NM_001099922.3(ALG13):c.2402-6C>T
|
|
|
NM_001099922.3(ALG13):c.2411A>G (p.Tyr804Cys)
|
|
|
NM_001099922.3(ALG13):c.2415A>G (p.Glu805=)
|
|
|
NM_001099922.3(ALG13):c.241G>A (p.Ala81Thr)
|
rs1064796372
|
|
NM_001099922.3(ALG13):c.2427T>C (p.Val809=)
|
|
|
NM_001099922.3(ALG13):c.2436A>G (p.Thr812=)
|
|
|
NM_001099922.3(ALG13):c.244+12T>C
|
|
|
NM_001099922.3(ALG13):c.244+15G>C
|
rs1933641836
|
|
NM_001099922.3(ALG13):c.244+20T>G
|
|
|
NM_001099922.3(ALG13):c.2440G>A (p.Ala814Thr)
|
|
|
NM_001099922.3(ALG13):c.2442A>G (p.Ala814=)
|
|
|
NM_001099922.3(ALG13):c.2448A>G (p.Thr816=)
|
rs2148264402
|
|
NM_001099922.3(ALG13):c.245-10A>G
|
|
|
NM_001099922.3(ALG13):c.245-12T>A
|
rs773672059
|
|
NM_001099922.3(ALG13):c.245-17T>C
|
rs1934554117
|
|
NM_001099922.3(ALG13):c.245-7T>C
|
|
|
NM_001099922.3(ALG13):c.245-8A>G
|
|
|
NM_001099922.3(ALG13):c.2453A>T (p.Asn818Ile)
|
rs770109323
|
|
NM_001099922.3(ALG13):c.2457+13T>A
|
|
|
NM_001099922.3(ALG13):c.2457+14A>G
|
|
|
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.2457+18G>C
|
|
|
NM_001099922.3(ALG13):c.2458-10T>G
|
|
|
NM_001099922.3(ALG13):c.2458-12_2458-10del
|
|
|
NM_001099922.3(ALG13):c.2458-15_2486del
|
rs770762084
|
|
NM_001099922.3(ALG13):c.2458-1G>A
|
rs1008287339
|
|
NM_001099922.3(ALG13):c.2458-4A>G
|
|
|
NM_001099922.3(ALG13):c.2465A>G (p.Gln822Arg)
|
|
|
NM_001099922.3(ALG13):c.2476T>A (p.Ser826Thr)
|
|
|
NM_001099922.3(ALG13):c.2479T>A (p.Cys827Ser)
|
rs1943106113
|
|
NM_001099922.3(ALG13):c.2494C>G (p.Gln832Glu)
|
rs2148314775
|
|
NM_001099922.3(ALG13):c.2495A>G (p.Gln832Arg)
|
|
|
NM_001099922.3(ALG13):c.2500A>G (p.Thr834Ala)
|
rs1943107956
|
|
NM_001099922.3(ALG13):c.2503G>A (p.Val835Ile)
|
rs1943108263
|
|
NM_001099922.3(ALG13):c.2516A>G (p.Asn839Ser)
|
rs1943109281
|
|
NM_001099922.3(ALG13):c.2519A>G (p.Tyr840Cys)
|
rs1602807307
|
|
NM_001099922.3(ALG13):c.2520C>T (p.Tyr840=)
|
rs1943109899
|
|
NM_001099922.3(ALG13):c.2523C>A (p.Pro841=)
|
|
|
NM_001099922.3(ALG13):c.2523C>G (p.Pro841=)
|
rs1229717685
|
|
NM_001099922.3(ALG13):c.2529+12A>T
|
|
|
NM_001099922.3(ALG13):c.2529G>A (p.Lys843=)
|
|
|
NM_001099922.3(ALG13):c.2530-11C>T
|
|
|
NM_001099922.3(ALG13):c.2530-15C>T
|
|
|
NM_001099922.3(ALG13):c.2530-16T>C
|
|
|
NM_001099922.3(ALG13):c.2531T>C (p.Met844Thr)
|
rs2148330955
|
|
NM_001099922.3(ALG13):c.2536G>A (p.Gly846Arg)
|
|
|
NM_001099922.3(ALG13):c.2547A>T (p.Ala849=)
|
|
|
NM_001099922.3(ALG13):c.2550A>C (p.Ala850=)
|
|
|
NM_001099922.3(ALG13):c.256T>A (p.Cys86Ser)
|
rs1934564084
|
|
NM_001099922.3(ALG13):c.2570A>G (p.Asn857Ser)
|
rs1556516921
|
|
NM_001099922.3(ALG13):c.2578C>G (p.Pro860Ala)
|
rs2148331392
|
|
NM_001099922.3(ALG13):c.2582C>T (p.Ala861Val)
|
|
|
NM_001099922.3(ALG13):c.2587G>T (p.Val863Phe)
|
rs1556516959
|
|
NM_001099922.3(ALG13):c.2591T>C (p.Leu864Ser)
|
rs1408463417
|
|
NM_001099922.3(ALG13):c.2594C>T (p.Ser865Phe)
|
rs755213977
|
|
NM_001099922.3(ALG13):c.2598C>T (p.Asn866=)
|
|
|
NM_001099922.3(ALG13):c.261G>A (p.Leu87=)
|
|
|
NM_001099922.3(ALG13):c.2623A>G (p.Ser875Gly)
|
|
|
NM_001099922.3(ALG13):c.2624G>A (p.Ser875Asn)
|
rs757522953
|
|
NM_001099922.3(ALG13):c.2635G>C (p.Val879Leu)
|
rs2148332060
|
|
NM_001099922.3(ALG13):c.2639C>A (p.Ser880Tyr)
|
rs1556517088
|
|
NM_001099922.3(ALG13):c.2650_2652dup (p.Ala884dup)
|
rs1276026793
|
|
NM_001099922.3(ALG13):c.2651C>T (p.Ala884Val)
|
rs1556517111
|
|
NM_001099922.3(ALG13):c.2668G>C (p.Val890Leu)
|
|
|
NM_001099922.3(ALG13):c.2670A>G (p.Val890=)
|
|
|
NM_001099922.3(ALG13):c.2677C>T (p.Pro893Ser)
|
|
|
NM_001099922.3(ALG13):c.2680A>G (p.Thr894Ala)
|
|
|
NM_001099922.3(ALG13):c.2687G>A (p.Gly896Asp)
|
|
|
NM_001099922.3(ALG13):c.268C>T (p.Leu90=)
|
|
|
NM_001099922.3(ALG13):c.2695+15G>A
|
|
|
NM_001099922.3(ALG13):c.2695+16A>C
|
|
|
NM_001099922.3(ALG13):c.2695+9T>C
|
|
|
NM_001099922.3(ALG13):c.2696-19T>C
|
rs2148402568
|
|
NM_001099922.3(ALG13):c.2705C>T (p.Ser902Leu)
|
|
|
NM_001099922.3(ALG13):c.2714A>G (p.Tyr905Cys)
|
|
|
NM_001099922.3(ALG13):c.2731A>G (p.Ile911Val)
|
|
|
NM_001099922.3(ALG13):c.2748C>G (p.Ala916=)
|
|
|
NM_001099922.3(ALG13):c.2753T>C (p.Leu918Pro)
|
|
|
NM_001099922.3(ALG13):c.2754ACC[10] (p.Pro941_Pro945del)
|
rs750710267
|
|
NM_001099922.3(ALG13):c.2754ACC[11] (p.Pro942_Pro945del)
|
rs750710267
|
|
NM_001099922.3(ALG13):c.2754ACC[12] (p.Pro943_Pro945del)
|
rs750710267
|
|
NM_001099922.3(ALG13):c.2754ACC[13] (p.Pro944_Pro945del)
|
rs750710267
|
|
NM_001099922.3(ALG13):c.2754ACC[14] (p.Pro945del)
|
rs750710267
|
|
NM_001099922.3(ALG13):c.2754ACC[16] (p.Pro945dup)
|
rs750710267
|
|
NM_001099922.3(ALG13):c.2754ACC[17] (p.Pro944_Pro945dup)
|
rs750710267
|
|
NM_001099922.3(ALG13):c.2754ACC[18] (p.Pro943_Pro945dup)
|
rs750710267
|
|
NM_001099922.3(ALG13):c.2754ACC[19] (p.Pro942_Pro945dup)
|
rs750710267
|
|
NM_001099922.3(ALG13):c.2754ACC[21] (p.Pro940_Pro945dup)
|
rs750710267
|
|
NM_001099922.3(ALG13):c.2754ACC[7] (p.Pro938_Pro945del)
|
rs750710267
|
|
NM_001099922.3(ALG13):c.2754ACC[9] (p.Pro940_Pro945del)
|
rs750710267
|
|
NM_001099922.3(ALG13):c.2755C>A (p.Pro919Thr)
|
rs1944061818
|
|
NM_001099922.3(ALG13):c.2756C>A (p.Pro919Gln)
|
|
|
NM_001099922.3(ALG13):c.2756C>T (p.Pro919Leu)
|
|
|
NM_001099922.3(ALG13):c.2757A>C (p.Pro919=)
|
rs2148403524
|
|
NM_001099922.3(ALG13):c.2758C>T (p.Pro920Ser)
|
|
|
NM_001099922.3(ALG13):c.2760A>C (p.Pro920=)
|
|
|
NM_001099922.3(ALG13):c.2760A>G (p.Pro920=)
|
rs2148403613
|
|
NM_001099922.3(ALG13):c.2763A>C (p.Pro921=)
|
rs1602887961
|
|
NM_001099922.3(ALG13):c.2766A>C (p.Pro922=)
|
rs1944064025
|
|
NM_001099922.3(ALG13):c.2766A>G (p.Pro922=)
|
|
|
NM_001099922.3(ALG13):c.2768C>A (p.Pro923Gln)
|
|
|
NM_001099922.3(ALG13):c.2768C>T (p.Pro923Leu)
|
rs1047232159
|
|
NM_001099922.3(ALG13):c.2769A>C (p.Pro923=)
|
rs1602888164
|
|
NM_001099922.3(ALG13):c.2772A>C (p.Pro924=)
|
rs1204623641
|
|
NM_001099922.3(ALG13):c.2772A>G (p.Pro924=)
|
|
|
NM_001099922.3(ALG13):c.2775A>C (p.Pro925=)
|
rs1285221362
|
|
NM_001099922.3(ALG13):c.2778A>C (p.Pro926=)
|
rs1218547242
|
|
NM_001099922.3(ALG13):c.2781A>C (p.Pro927=)
|
rs147870070
|
|
NM_001099922.3(ALG13):c.2783C>T (p.Pro928Leu)
|
|
|
NM_001099922.3(ALG13):c.2784A>C (p.Pro928=)
|
rs1602888630
|
|
NM_001099922.3(ALG13):c.2787A>C (p.Pro929=)
|
rs772431643
|
|
NM_001099922.3(ALG13):c.2790A>C (p.Pro930=)
|
rs1602888750
|
|
NM_001099922.3(ALG13):c.2790A>G (p.Pro930=)
|
|
|
NM_001099922.3(ALG13):c.2790A>T (p.Pro930=)
|
|
|
NM_001099922.3(ALG13):c.2790_2801del (p.Pro942_Pro945del)
|
rs1944071710
|
|
NM_001099922.3(ALG13):c.2792C>T (p.Pro931Leu)
|
|
|
NM_001099922.3(ALG13):c.2792_2793insTCC (p.Pro945_Ala946insPro)
|
|
|
NM_001099922.3(ALG13):c.2793A>C (p.Pro931=)
|
rs1325128061
|
|
NM_001099922.3(ALG13):c.2793A>T (p.Pro931=)
|
|
|
NM_001099922.3(ALG13):c.2793_2801del (p.Pro943_Pro945del)
|
rs1944073301
|
|
NM_001099922.3(ALG13):c.2793_2801dup (p.Pro945_Ala946insProProPro)
|
|
|
NM_001099922.3(ALG13):c.2795C>A (p.Pro932Gln)
|
rs773392173
|
|
NM_001099922.3(ALG13):c.2795C>T (p.Pro932Leu)
|
rs773392173
|
|
NM_001099922.3(ALG13):c.2795_2796insTCC (p.Pro945dup)
|
rs1944074283
|
|
NM_001099922.3(ALG13):c.2796A>C (p.Pro932=)
|
|
|
NM_001099922.3(ALG13):c.2796_2801del (p.Pro944_Pro945del)
|
rs1468160803
|
|
NM_001099922.3(ALG13):c.2796_2804del (p.Pro943_Pro945del)
|
rs2148404715
|
|
NM_001099922.3(ALG13):c.2796_2807del (p.Pro942_Pro945del)
|
|
|
NM_001099922.3(ALG13):c.2796_2810del (p.Pro941_Pro945del)
|
|
|
NM_001099922.3(ALG13):c.2797CCT[10] (p.Pro943_Pro945del)
|
rs56717389
|
|
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[15] (p.Pro944_Pro945dup)
|
rs56717389
|
|
NM_001099922.3(ALG13):c.2797CCT[16] (p.Pro943_Pro945dup)
|
rs56717389
|
|
NM_001099922.3(ALG13):c.2797CCT[5] (p.Pro938_Pro945del)
|
|
|
NM_001099922.3(ALG13):c.2797CCT[6] (p.Pro939_Pro945del)
|
|
|
NM_001099922.3(ALG13):c.2797CCT[7] (p.Pro940_Pro945del)
|
rs56717389
|
|
NM_001099922.3(ALG13):c.2797CCT[8] (p.Pro941_Pro945del)
|
rs56717389
|
|
NM_001099922.3(ALG13):c.2797CCT[9] (p.Pro942_Pro945del)
|
rs56717389
|
|
NM_001099922.3(ALG13):c.2797_2798insGAC (p.Pro932_Pro933insArg)
|
|
|
NM_001099922.3(ALG13):c.2798_2799insACCACCACCACCACCACCTCC (p.Pro945_Ala946insProProProProProProPro)
|
|
|
NM_001099922.3(ALG13):c.2798_2799insACCACCACCTCC (p.Pro942_Pro945dup)
|
rs1569522034
|
|
NM_001099922.3(ALG13):c.2798_2799insACCACCACCTCCTCC (p.Pro945_Ala946insProProProProPro)
|
|
|
NM_001099922.3(ALG13):c.2798_2799insACCACCTCC (p.Pro943_Pro945dup)
|
rs1569522034
|
|
NM_001099922.3(ALG13):c.2798_2799insACCTCC (p.Pro944_Pro945dup)
|
rs1569522034
|
|
NM_001099922.3(ALG13):c.2798_2799insACCTCCTCC (p.Pro943_Pro945dup)
|
rs1569522034
|
|
NM_001099922.3(ALG13):c.2799T>C (p.Pro933=)
|
|
|
NM_001099922.3(ALG13):c.27G>A (p.Gly9=)
|
|
|
NM_001099922.3(ALG13):c.2801C>T (p.Pro934Leu)
|
rs2148405253
|
|
NM_001099922.3(ALG13):c.2802T>C (p.Pro934=)
|
|
|
NM_001099922.3(ALG13):c.2809C>G (p.Pro937Ala)
|
rs1358741065
|
|
NM_001099922.3(ALG13):c.280A>G (p.Lys94Glu)
|
rs867599353
|
|
NM_001099922.3(ALG13):c.2814T>A (p.Pro938=)
|
|
|
NM_001099922.3(ALG13):c.2815C>T (p.Pro939Ser)
|
|
|
NM_001099922.3(ALG13):c.2818C>A (p.Pro940Thr)
|
|
|
NM_001099922.3(ALG13):c.2820T>A (p.Pro940=)
|
|
|
NM_001099922.3(ALG13):c.2820T>G (p.Pro940=)
|
rs765365972
|
|
NM_001099922.3(ALG13):c.2821_2841del (p.Pro941_Leu947del)
|
|
|
NM_001099922.3(ALG13):c.2827C>G (p.Pro943Ala)
|
rs887315764
|
|
NM_001099922.3(ALG13):c.2827C>T (p.Pro943Ser)
|
|
|
NM_001099922.3(ALG13):c.2828_2839del (p.Pro943_Ala946del)
|
rs1569522062
|
|
NM_001099922.3(ALG13):c.2831_2839del (p.Pro944_Ala946del)
|
rs1944088858
|
|
NM_001099922.3(ALG13):c.2835T>C (p.Pro945=)
|
|
|
NM_001099922.3(ALG13):c.2845G>A (p.Val949Met)
|
|
|
NM_001099922.3(ALG13):c.284C>T (p.Pro95Leu)
|
rs2147692312
|
|
NM_001099922.3(ALG13):c.2860A>G (p.Asn954Asp)
|
|
|
NM_001099922.3(ALG13):c.2866C>G (p.Gln956Glu)
|
|
|
NM_001099922.3(ALG13):c.286C>T (p.Leu96Phe)
|
|
|
NM_001099922.3(ALG13):c.2870CAC[5] (p.Pro960dup)
|
rs771610606
|
|
NM_001099922.3(ALG13):c.2874A>G (p.Pro958=)
|
|
|
NM_001099922.3(ALG13):c.2874_2888del (p.Leu961_Pro965del)
|
rs746614953
|
|
NM_001099922.3(ALG13):c.2877A>G (p.Pro959=)
|
|
|
NM_001099922.3(ALG13):c.2883A>G (p.Leu961=)
|
rs370500067
|
|
NM_001099922.3(ALG13):c.2887C>T (p.Pro963Ser)
|
rs771778284
|
|
NM_001099922.3(ALG13):c.2888C>T (p.Pro963Leu)
|
|
|
NM_001099922.3(ALG13):c.288C>G (p.Leu96=)
|
|
|
NM_001099922.3(ALG13):c.2892A>G (p.Pro964=)
|
rs1556523067
|
|
NM_001099922.3(ALG13):c.2910A>G (p.Pro970=)
|
|
|
NM_001099922.3(ALG13):c.2912G>A (p.Ser971Asn)
|
rs2148407042
|
|
NM_001099922.3(ALG13):c.2932+16G>A
|
|
|
NM_001099922.3(ALG13):c.2932+16_2932+30del
|
|
|
NM_001099922.3(ALG13):c.2932+19T>G
|
|
|
NM_001099922.3(ALG13):c.2932+22_2932+41del
|
|
|
NM_001099922.3(ALG13):c.2932+6_2932+7insC
|
|
|
NM_001099922.3(ALG13):c.2932+8G>T
|
|
|
NM_001099922.3(ALG13):c.2932+9_2932+10insCGCTTTTT
|
|
|
NM_001099922.3(ALG13):c.2933-15G>C
|
|
|
NM_001099922.3(ALG13):c.294G>T (p.Val98=)
|
|
|
NM_001099922.3(ALG13):c.2967A>G (p.Gly989=)
|
rs1944879675
|
|
NM_001099922.3(ALG13):c.2973+9C>T
|
|
|
NM_001099922.3(ALG13):c.2974-10C>T
|
rs1426077854
|
|
NM_001099922.3(ALG13):c.2974-17G>A
|
|
|
NM_001099922.3(ALG13):c.2974-4C>T
|
|
|
NM_001099922.3(ALG13):c.2983C>A (p.His995Asn)
|
rs1945383559
|
|
NM_001099922.3(ALG13):c.2987G>A (p.Ser996Asn)
|
|
|
NM_001099922.3(ALG13):c.298A>G (p.Ile100Val)
|
|
|
NM_001099922.3(ALG13):c.2991C>T (p.Tyr997=)
|
|
|
NM_001099922.3(ALG13):c.3012G>A (p.Val1004=)
|
|
|
NM_001099922.3(ALG13):c.3013C>T (p.Pro1005Ser)
|
rs1945385727
|
|
NM_001099922.3(ALG13):c.3015A>T (p.Pro1005=)
|
|
|
NM_001099922.3(ALG13):c.3023AGC[2] (p.Gln1010del)
|
rs770600982
|
|
NM_001099922.3(ALG13):c.3035A>C (p.His1012Pro)
|
|
|
NM_001099922.3(ALG13):c.3037G>A (p.Val1013Ile)
|
|
|
NM_001099922.3(ALG13):c.3048T>C (p.Tyr1016=)
|
|
|
NM_001099922.3(ALG13):c.3054C>G (p.Val1018=)
|
|
|
NM_001099922.3(ALG13):c.3066A>G (p.Pro1022=)
|
|
|
NM_001099922.3(ALG13):c.3067C>T (p.Pro1023Ser)
|
rs2148514193
|
|
NM_001099922.3(ALG13):c.3070C>T (p.Leu1024=)
|
|
|
NM_001099922.3(ALG13):c.3072G>C (p.Leu1024=)
|
|
|
NM_001099922.3(ALG13):c.3088C>A (p.Pro1030Thr)
|
rs1156871693
|
|
NM_001099922.3(ALG13):c.3095G>A (p.Cys1032Tyr)
|
|
|
NM_001099922.3(ALG13):c.30C>T (p.Thr10=)
|
|
|
NM_001099922.3(ALG13):c.3105G>T (p.Glu1035Asp)
|
|
|
NM_001099922.3(ALG13):c.3108GAG[1] (p.Arg1038del)
|
|
|
NM_001099922.3(ALG13):c.3117A>G (p.Glu1039=)
|
rs2148514625
|
|
NM_001099922.3(ALG13):c.3117A>T (p.Glu1039Asp)
|
rs2148514625
|
|
NM_001099922.3(ALG13):c.3119A>G (p.Asp1040Gly)
|
rs2148514658
|
|
NM_001099922.3(ALG13):c.3120T>C (p.Asp1040=)
|
rs2148514681
|
|
NM_001099922.3(ALG13):c.3123C>T (p.Gly1041=)
|
|
|
NM_001099922.3(ALG13):c.3124A>G (p.Ile1042Val)
|
rs2148514763
|
|
NM_001099922.3(ALG13):c.312G>C (p.Leu104Phe)
|
|
|
NM_001099922.3(ALG13):c.3131C>T (p.Ala1044Val)
|
|
|
NM_001099922.3(ALG13):c.3146A>G (p.Asn1049Ser)
|
|
|
NM_001099922.3(ALG13):c.3148+7G>A
|
|
|
NM_001099922.3(ALG13):c.3148+7G>C
|
|
|
NM_001099922.3(ALG13):c.3149-11C>T
|
|
|
NM_001099922.3(ALG13):c.3149-12C>T
|
rs1603002604
|
|
NM_001099922.3(ALG13):c.3149-14A>G
|
|
|
NM_001099922.3(ALG13):c.3149-16A>G
|
|
|
NM_001099922.3(ALG13):c.3149-18A>G
|
rs1340748910
|
|
NM_001099922.3(ALG13):c.3149-19T>C
|
|
|
NM_001099922.3(ALG13):c.3149-9T>C
|
|
|
NM_001099922.3(ALG13):c.314T>C (p.Met105Thr)
|
|
|
NM_001099922.3(ALG13):c.3156T>C (p.Phe1052=)
|
|
|
NM_001099922.3(ALG13):c.3158C>T (p.Pro1053Leu)
|
|
|
NM_001099922.3(ALG13):c.3181C>T (p.Pro1061Ser)
|
rs1945590685
|
|
NM_001099922.3(ALG13):c.3182C>T (p.Pro1061Leu)
|
|
|
NM_001099922.3(ALG13):c.3184C>T (p.His1062Tyr)
|
rs750471213
|
|
NM_001099922.3(ALG13):c.3195C>G (p.Val1065=)
|
|
|
NM_001099922.3(ALG13):c.3205G>A (p.Val1069Ile)
|
rs2148530841
|
|
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser)
|
rs398122394
|
|
NM_001099922.3(ALG13):c.320A>T (p.Asn107Ile)
|
rs398122394
|
|
NM_001099922.3(ALG13):c.3211T>G (p.Ser1071Ala)
|
rs2148530883
|
|
NM_001099922.3(ALG13):c.3218C>G (p.Pro1073Arg)
|
|
|
NM_001099922.3(ALG13):c.3221A>G (p.Tyr1074Cys)
|
rs372990620
|
|
NM_001099922.3(ALG13):c.3221A>T (p.Tyr1074Phe)
|
rs372990620
|
|
NM_001099922.3(ALG13):c.3251C>A (p.Ser1084Tyr)
|
rs1945595856
|
|
NM_001099922.3(ALG13):c.3260C>T (p.Pro1087Leu)
|
rs1945596491
|
|
NM_001099922.3(ALG13):c.3267G>A (p.Val1089=)
|
|
|
NM_001099922.3(ALG13):c.3279C>A (p.Ser1093=)
|
|
|
NM_001099922.3(ALG13):c.3281G>A (p.Cys1094Tyr)
|
|
|
NM_001099922.3(ALG13):c.3290C>T (p.Pro1097Leu)
|
|
|
NM_001099922.3(ALG13):c.3291C>G (p.Pro1097=)
|
rs1329885117
|
|
NM_001099922.3(ALG13):c.3301G>T (p.Val1101Phe)
|
rs1370248370
|
|
NM_001099922.3(ALG13):c.3321T>C (p.Gly1107=)
|
rs2148531912
|
|
NM_001099922.3(ALG13):c.3324T>G (p.Ser1108=)
|
|
|
NM_001099922.3(ALG13):c.3327T>G (p.Ser1109=)
|
rs2148532070
|
|
NM_001099922.3(ALG13):c.3330A>G (p.Gln1110=)
|
rs761412613
|
|
NM_001099922.3(ALG13):c.3330A>T (p.Gln1110His)
|
|
|
NM_001099922.3(ALG13):c.3343A>G (p.Ile1115Val)
|
|
|
NM_001099922.3(ALG13):c.3347A>G (p.Asn1116Ser)
|
rs1323383971
|
|
NM_001099922.3(ALG13):c.3349C>G (p.Pro1117Ala)
|
rs1603004235
|
|
NM_001099922.3(ALG13):c.334C>T (p.Leu112=)
|
|
|
NM_001099922.3(ALG13):c.3372T>C (p.Ala1124=)
|
|
|
NM_001099922.3(ALG13):c.3391C>T (p.His1131Tyr)
|
|
|
NM_001099922.3(ALG13):c.3398T>A (p.Val1133Glu)
|
|
|
NM_001099922.3(ALG13):c.33C>G (p.Thr11=)
|
|
|
NM_001099922.3(ALG13):c.3400C>T (p.Pro1134Ser)
|
|
|
NM_001099922.3(ALG13):c.348A>G (p.Leu116=)
|
|
|
NM_001099922.3(ALG13):c.354A>G (p.Lys118=)
|
rs1569510723
|
|
NM_001099922.3(ALG13):c.359G>A (p.Gly120Asp)
|
rs1934591547
|
|
NM_001099922.3(ALG13):c.35G>A (p.Ser12Asn)
|
rs2147593382
|
|
NM_001099922.3(ALG13):c.361C>T (p.His121Tyr)
|
|
|
NM_001099922.3(ALG13):c.362A>G (p.His121Arg)
|
|
|
NM_001099922.3(ALG13):c.36C>T (p.Ser12=)
|
|
|
NM_001099922.3(ALG13):c.372T>C (p.Tyr124=)
|
|
|
NM_001099922.3(ALG13):c.373T>G (p.Cys125Gly)
|
rs1556449735
|
|
NM_001099922.3(ALG13):c.377C>A (p.Thr126Asn)
|
|
|
NM_001099922.3(ALG13):c.382A>G (p.Arg128Gly)
|
rs1934600580
|
|
NM_001099922.3(ALG13):c.383+13C>A
|
|
|
NM_001099922.3(ALG13):c.383+14_383+15del
|
|
|
NM_001099922.3(ALG13):c.383+16A>G
|
rs2147695492
|
|
NM_001099922.3(ALG13):c.383+16ATT[2]
|
|
|
NM_001099922.3(ALG13):c.383+17T>C
|
|
|
NM_001099922.3(ALG13):c.383+2885G>A
|
rs2147754268
|
|
NM_001099922.3(ALG13):c.383+8A>G
|
|
|
NM_001099922.3(ALG13):c.384-10_384-8del
|
|
|
NM_001099922.3(ALG13):c.384-12T>G
|
|
|
NM_001099922.3(ALG13):c.384-15C>T
|
|
|
NM_001099922.3(ALG13):c.384-17T>C
|
|
|
NM_001099922.3(ALG13):c.399T>C (p.Pro133=)
|
|
|
NM_001099922.3(ALG13):c.403C>G (p.Gln135Glu)
|
rs1602635058
|
|
NM_001099922.3(ALG13):c.410A>G (p.Lys137Arg)
|
|
|
NM_001099922.3(ALG13):c.422C>T (p.Ser141Phe)
|
rs1432301604
|
|
NM_001099922.3(ALG13):c.424G>A (p.Ala142Thr)
|
rs1939098208
|
|
NM_001099922.3(ALG13):c.430G>A (p.Gly144Arg)
|
rs1452792292
|
|
NM_001099922.3(ALG13):c.432G>A (p.Gly144=)
|
|
|
NM_001099922.3(ALG13):c.432G>C (p.Gly144=)
|
|
|
NM_001099922.3(ALG13):c.43G>T (p.Asp15Tyr)
|
rs776133794
|
|
NM_001099922.3(ALG13):c.452C>T (p.Ala151Val)
|
rs1060500008
|
|
NM_001099922.3(ALG13):c.453G>A (p.Ala151=)
|
|
|
NM_001099922.3(ALG13):c.461del (p.Thr153_Ser154insTer)
|
rs964823190
|
|
NM_001099922.3(ALG13):c.463A>G (p.Thr155Ala)
|
|
|
NM_001099922.3(ALG13):c.463del (p.Thr155fs)
|
|
|
NM_001099922.3(ALG13):c.476_481del (p.Gly159_Leu160del)
|
rs750251838
|
|
NM_001099922.3(ALG13):c.497C>G (p.Ser166Cys)
|
rs2147996812
|
|
NM_001099922.3(ALG13):c.498C>T (p.Ser166=)
|
|
|
NM_001099922.3(ALG13):c.516A>G (p.Gln172=)
|
|
|
NM_001099922.3(ALG13):c.518C>G (p.Ala173Gly)
|
|
|
NM_001099922.3(ALG13):c.518C>T (p.Ala173Val)
|
rs188589829
|
|
NM_001099922.3(ALG13):c.527C>T (p.Thr176Ile)
|
|
|
NM_001099922.3(ALG13):c.52_54dup (p.Ala18dup)
|
rs1933041651
|
|
NM_001099922.3(ALG13):c.534C>T (p.Thr178=)
|
rs2147997341
|
|
NM_001099922.3(ALG13):c.539C>T (p.Pro180Leu)
|
|
|
NM_001099922.3(ALG13):c.541A>T (p.Thr181Ser)
|
rs774646647
|
|
NM_001099922.3(ALG13):c.554T>G (p.Leu185Arg)
|
rs1939121243
|
|
NM_001099922.3(ALG13):c.563C>G (p.Ser188Cys)
|
rs772044321
|
|
NM_001099922.3(ALG13):c.568C>T (p.His190Tyr)
|
rs1939123103
|
|
NM_001099922.3(ALG13):c.592A>G (p.Thr198Ala)
|
|
|
NM_001099922.3(ALG13):c.593C>T (p.Thr198Ile)
|
|
|
NM_001099922.3(ALG13):c.594C>T (p.Thr198=)
|
rs2147998048
|
|
NM_001099922.3(ALG13):c.597C>G (p.Pro199=)
|
|
|
NM_001099922.3(ALG13):c.597del (p.Thr200fs)
|
rs2147998012
|
|
NM_001099922.3(ALG13):c.598A>G (p.Thr200Ala)
|
|
|
NM_001099922.3(ALG13):c.598_602del (p.Thr200fs)
|
rs1939127665
|
|
NM_001099922.3(ALG13):c.60G>A (p.Val20=)
|
rs2147594318
|
|
NM_001099922.3(ALG13):c.628A>C (p.Asn210His)
|
|
|
NM_001099922.3(ALG13):c.62C>G (p.Ser21Trp)
|
|
|
NM_001099922.3(ALG13):c.62C>T (p.Ser21Leu)
|
rs1602457991
|
|
NM_001099922.3(ALG13):c.632A>G (p.Tyr211Cys)
|
rs1556483387
|
|
NM_001099922.3(ALG13):c.646T>C (p.Ser216Pro)
|
rs2147998626
|
|
NM_001099922.3(ALG13):c.649T>G (p.Leu217Val)
|
rs2147998654
|
|
NM_001099922.3(ALG13):c.64G>A (p.Ala22Thr)
|
rs1933048489
|
|
NM_001099922.3(ALG13):c.654T>G (p.Asn218Lys)
|
|
|
NM_001099922.3(ALG13):c.65C>A (p.Ala22Glu)
|
|
|
NM_001099922.3(ALG13):c.662C>T (p.Ser221Leu)
|
rs1602636547
|
|
NM_001099922.3(ALG13):c.664A>G (p.Met222Val)
|
rs766905095
|
|
NM_001099922.3(ALG13):c.66G>A (p.Ala22=)
|
|
|
NM_001099922.3(ALG13):c.681C>G (p.Gly227=)
|
rs1939140318
|
|
NM_001099922.3(ALG13):c.683G>T (p.Ser228Ile)
|
rs1186351490
|
|
NM_001099922.3(ALG13):c.684C>T (p.Ser228=)
|
|
|
NM_001099922.3(ALG13):c.69C>G (p.Pro23=)
|
|
|
NM_001099922.3(ALG13):c.716A>G (p.Asp239Gly)
|
rs1939143318
|
|
NM_001099922.3(ALG13):c.729C>T (p.Leu243=)
|
|
|
NM_001099922.3(ALG13):c.74G>A (p.Ser25Asn)
|
rs1057522540
|
|
NM_001099922.3(ALG13):c.750+14A>G
|
|
|
NM_001099922.3(ALG13):c.750+16_750+17del
|
|
|
NM_001099922.3(ALG13):c.750+17T>C
|
|
|
NM_001099922.3(ALG13):c.750+6del
|
|
|
NM_001099922.3(ALG13):c.751-11C>T
|
rs1569515614
|
|
NM_001099922.3(ALG13):c.751-19G>T
|
rs2148005083
|
|
NM_001099922.3(ALG13):c.751-6T>C
|
rs2148005349
|
|
NM_001099922.3(ALG13):c.751-8_751-6del
|
rs765948340
|
|
NM_001099922.3(ALG13):c.751T>C (p.Leu251=)
|
|
|
NM_001099922.3(ALG13):c.756T>C (p.Phe252=)
|
rs915629293
|
|
NM_001099922.3(ALG13):c.766G>T (p.Val256Phe)
|
|
|
NM_001099922.3(ALG13):c.770A>G (p.His257Arg)
|
|
|
NM_001099922.3(ALG13):c.774T>C (p.His258=)
|
|
|
NM_001099922.3(ALG13):c.792T>G (p.Ala264=)
|
|
|
NM_001099922.3(ALG13):c.795T>C (p.Cys265=)
|
rs2148005716
|
|
NM_001099922.3(ALG13):c.801A>G (p.Ser267=)
|
|
|
NM_001099922.3(ALG13):c.805A>G (p.Met269Val)
|
|
|
NM_001099922.3(ALG13):c.81+13G>A
|
|
|
NM_001099922.3(ALG13):c.81+16G>A
|
|
|
NM_001099922.3(ALG13):c.81+18G>A
|
|
|
NM_001099922.3(ALG13):c.81+20A>C
|
|
|
NM_001099922.3(ALG13):c.81+7G>A
|
|
|
NM_001099922.3(ALG13):c.81+7G>T
|
|
|
NM_001099922.3(ALG13):c.81+9G>A
|
|
|
NM_001099922.3(ALG13):c.81+9G>T
|
rs2147595118
|
|
NM_001099922.3(ALG13):c.812A>G (p.Glu271Gly)
|
|
|
NM_001099922.3(ALG13):c.818A>C (p.Gln273Pro)
|
|
|
NM_001099922.3(ALG13):c.82-10C>T
|
|
|
NM_001099922.3(ALG13):c.834+14A>G
|
|
|
NM_001099922.3(ALG13):c.834+14A>T
|
|
|
NM_001099922.3(ALG13):c.834+20del
|
|
|
NM_001099922.3(ALG13):c.834+8G>C
|
|
|
NM_001099922.3(ALG13):c.834T>A (p.Ser278=)
|
|
|
NM_001099922.3(ALG13):c.835-15G>C
|
|
|
NM_001099922.3(ALG13):c.837T>C (p.Tyr279=)
|
|
|
NM_001099922.3(ALG13):c.84A>G (p.Lys28=)
|
|
|
NM_001099922.3(ALG13):c.852T>G (p.Phe284Leu)
|
|
|
NM_001099922.3(ALG13):c.858A>C (p.Lys286Asn)
|
rs1939806996
|
|
NM_001099922.3(ALG13):c.862C>G (p.Leu288Val)
|
|
|
NM_001099922.3(ALG13):c.869G>A (p.Arg290Gln)
|
rs1939809151
|
|
NM_001099922.3(ALG13):c.870G>A (p.Arg290=)
|
|
|
NM_001099922.3(ALG13):c.871T>C (p.Leu291=)
|
|
|
NM_001099922.3(ALG13):c.880C>T (p.Pro294Ser)
|
rs753556936
|
|
NM_001099922.3(ALG13):c.885+13A>G
|
|
|
NM_001099922.3(ALG13):c.885+16G>A
|
|
|
NM_001099922.3(ALG13):c.886-13T>C
|
rs2148043429
|
|
NM_001099922.3(ALG13):c.886-15A>G
|
rs2148043391
|
|
NM_001099922.3(ALG13):c.886-16C>T
|
rs780688383
|
|
NM_001099922.3(ALG13):c.886-6G>A
|
|
|
NM_001099922.3(ALG13):c.886-7T>C
|
rs1556488604
|
|
NM_001099922.3(ALG13):c.886-8A>T
|
|
|
NM_001099922.3(ALG13):c.887A>G (p.Glu296Gly)
|
rs2148043587
|
|
NM_001099922.3(ALG13):c.889A>T (p.Ser297Cys)
|
rs372176416
|
|
NM_001099922.3(ALG13):c.88G>C (p.Glu30Gln)
|
rs1933583293
|
|
NM_001099922.3(ALG13):c.890G>A (p.Ser297Asn)
|
rs1939938682
|
|
NM_001099922.3(ALG13):c.894T>C (p.Ala298=)
|
|
|
NM_001099922.3(ALG13):c.89A>C (p.Glu30Ala)
|
|
|
NM_001099922.3(ALG13):c.918T>G (p.Leu306=)
|
|
|
NM_001099922.3(ALG13):c.923T>C (p.Leu308Pro)
|
|
|
NM_001099922.3(ALG13):c.92G>A (p.Ser31Asn)
|
|
|
NM_001099922.3(ALG13):c.932+13C>T
|
|
|
NM_001099922.3(ALG13):c.932+14T>C
|
|
|
NM_001099922.3(ALG13):c.932+16T>C
|
|
|
NM_001099922.3(ALG13):c.932+8A>G
|
rs2148044353
|
|
NM_001099922.3(ALG13):c.933-20C>T
|
|
|
NM_001099922.3(ALG13):c.933-3T>C
|
|
|
NM_001099922.3(ALG13):c.933-7C>T
|
rs2148052573
|
|
NM_001099922.3(ALG13):c.935G>T (p.Arg312Leu)
|
rs1455053208
|
|
NM_001099922.3(ALG13):c.942C>G (p.Phe314Leu)
|
|
|
NM_001099922.3(ALG13):c.950A>T (p.Tyr317Phe)
|
|
|
NM_001099922.3(ALG13):c.952C>T (p.Arg318Cys)
|
rs775191661
|
|
NM_001099922.3(ALG13):c.953G>A (p.Arg318His)
|
|
|
NM_001099922.3(ALG13):c.977A>G (p.Tyr326Cys)
|
rs1940090808
|
|
NM_001099922.3(ALG13):c.984A>G (p.Thr328=)
|
|
|
NM_001099922.3(ALG13):c.999A>G (p.Glu333=)
|
|
|
NM_001204526.1:c.1_185del
|
|
|
NM_001367916.1(MAGT1):c.297C>G (p.Ile99Met)
|
|
|
NM_001367916.1(MAGT1):c.752C>T (p.Thr251Met)
|
|
|
NM_001367916.1(MAGT1):c.895C>T (p.Arg299Ter)
|
rs1569547876
|
|
NM_001367916.1(MAGT1):c.972A>C (p.Lys324Asn)
|
rs373260156
|
|
NM_001382.4(DPAGT1):c.*369A>G
|
rs886047759
|
|
NM_001382.4(DPAGT1):c.*379G>T
|
rs886047758
|
|
NM_001382.4(DPAGT1):c.*484T>C
|
rs886047757
|
|
NM_001382.4(DPAGT1):c.-76G>T
|
rs1946515312
|
|
NM_001382.4(DPAGT1):c.1004A>C (p.Lys335Thr)
|
rs1946418638
|
|
NM_001382.4(DPAGT1):c.1005+1G>A
|
|
|
NM_001382.4(DPAGT1):c.1005+5C>T
|
|
|
NM_001382.4(DPAGT1):c.1005+6A>T
|
rs1592225596
|
|
NM_001382.4(DPAGT1):c.1006-6C>T
|
rs2134898608
|
|
NM_001382.4(DPAGT1):c.1007T>C (p.Val336Ala)
|
rs1555207196
|
|
NM_001382.4(DPAGT1):c.1033G>A (p.Val345Ile)
|
|
|
NM_001382.4(DPAGT1):c.1036C>G (p.His346Asp)
|
rs1592225374
|
|
NM_001382.4(DPAGT1):c.103C>T (p.His35Tyr)
|
|
|
NM_001382.4(DPAGT1):c.1044T>C (p.Ser348=)
|
|
|
NM_001382.4(DPAGT1):c.1050T>G (p.Thr350=)
|
|
|
NM_001382.4(DPAGT1):c.1051G>A (p.Glu351Lys)
|
rs1475939080
|
|
NM_001382.4(DPAGT1):c.1059T>G (p.Gly353=)
|
rs1946413563
|
|
NM_001382.4(DPAGT1):c.1099C>G (p.Leu367Val)
|
rs980077282
|
|
NM_001382.4(DPAGT1):c.1101A>T (p.Leu367=)
|
rs1442358846
|
|
NM_001382.4(DPAGT1):c.1117C>T (p.Pro373Ser)
|
rs1210999092
|
|
NM_001382.4(DPAGT1):c.1142T>C (p.Leu381Ser)
|
rs2134897889
|
|
NM_001382.4(DPAGT1):c.1158G>A (p.Leu386=)
|
rs2134897849
|
|
NM_001382.4(DPAGT1):c.1161+15C>T
|
rs775825050
|
|
NM_001382.4(DPAGT1):c.1161+18G>A
|
|
|
NM_001382.4(DPAGT1):c.1161+5G>A
|
rs1946410970
|
|
NM_001382.4(DPAGT1):c.1161+9G>A
|
rs1946410715
|
|
NM_001382.4(DPAGT1):c.1162-14A>G
|
|
|
NM_001382.4(DPAGT1):c.1162A>C (p.Ile388Leu)
|
rs2134897349
|
|
NM_001382.4(DPAGT1):c.1164C>A (p.Ile388=)
|
|
|
NM_001382.4(DPAGT1):c.1180A>C (p.Thr394Pro)
|
rs2134897273
|
|
NM_001382.4(DPAGT1):c.1200G>T (p.Gln400His)
|
|
|
NM_001382.4(DPAGT1):c.1207C>T (p.Arg403Ter)
|
|
|
NM_001382.4(DPAGT1):c.1208G>A (p.Arg403Gln)
|
|
|
NM_001382.4(DPAGT1):c.1219G>A (p.Asp407Asn)
|
rs2134897091
|
|
NM_001382.4(DPAGT1):c.121C>A (p.Leu41Ile)
|
|
|
NM_001382.4(DPAGT1):c.121C>G (p.Leu41Val)
|
|
|
NM_001382.4(DPAGT1):c.128G>T (p.Gly43Val)
|
rs1946507643
|
|
NM_001382.4(DPAGT1):c.14C>G (p.Ser5Trp)
|
|
|
NM_001382.4(DPAGT1):c.160A>T (p.Ile54Phe)
|
|
|
NM_001382.4(DPAGT1):c.161+13A>G
|
|
|
NM_001382.4(DPAGT1):c.161+16C>T
|
|
|
NM_001382.4(DPAGT1):c.161+9C>T
|
|
|
NM_001382.4(DPAGT1):c.162-12G>A
|
|
|
NM_001382.4(DPAGT1):c.162-12G>C
|
|
|
NM_001382.4(DPAGT1):c.162-15G>A
|
|
|
NM_001382.4(DPAGT1):c.162-16T>C
|
rs2134916538
|
|
NM_001382.4(DPAGT1):c.162-18C>G
|
rs764930301
|
|
NM_001382.4(DPAGT1):c.162-18C>T
|
|
|
NM_001382.4(DPAGT1):c.162-20C>G
|
rs749879111
|
|
NM_001382.4(DPAGT1):c.163C>G (p.Pro55Ala)
|
|
|
NM_001382.4(DPAGT1):c.170C>T (p.Ser57Phe)
|
|
|
NM_001382.4(DPAGT1):c.197T>C (p.Phe66Ser)
|
rs1565766177
|
|
NM_001382.4(DPAGT1):c.206T>A (p.Ile69Asn)
|
rs397514586
|
|
NM_001382.4(DPAGT1):c.215G>A (p.Cys72Tyr)
|
rs1274896616
|
|
NM_001382.4(DPAGT1):c.222C>T (p.Ile74=)
|
|
|
NM_001382.4(DPAGT1):c.253G>A (p.Glu85Lys)
|
rs781224323
|
|
NM_001382.4(DPAGT1):c.274C>G (p.His92Asp)
|
|
|
NM_001382.4(DPAGT1):c.276C>T (p.His92=)
|
rs931405073
|
|
NM_001382.4(DPAGT1):c.282+12C>T
|
|
|
NM_001382.4(DPAGT1):c.282+17G>A
|
rs1236626939
|
|
NM_001382.4(DPAGT1):c.282+20T>C
|
|
|
NM_001382.4(DPAGT1):c.283-13G>A
|
|
|
NM_001382.4(DPAGT1):c.283-17G>A
|
|
|
NM_001382.4(DPAGT1):c.283-3C>A
|
|
|
NM_001382.4(DPAGT1):c.283-5C>T
|
|
|
NM_001382.4(DPAGT1):c.285T>C (p.Phe95=)
|
|
|
NM_001382.4(DPAGT1):c.286G>T (p.Val96Leu)
|
|
|
NM_001382.4(DPAGT1):c.335G>T (p.Gly112Val)
|
rs1946489072
|
|
NM_001382.4(DPAGT1):c.341C>G (p.Ala114Gly)
|
rs397515327
|
|
NM_001382.4(DPAGT1):c.342G>C (p.Ala114=)
|
|
|
NM_001382.4(DPAGT1):c.348T>C (p.Asp116=)
|
rs200885014
|
|
NM_001382.4(DPAGT1):c.349G>A (p.Val117Ile)
|
rs387907243
|
|
NM_001382.4(DPAGT1):c.352C>G (p.Leu118Val)
|
rs398123609
|
|
NM_001382.4(DPAGT1):c.380_395dup (p.Ser133fs)
|
rs1185483085
|
|
NM_001382.4(DPAGT1):c.398C>G (p.Ser133Ter)
|
rs1315559074
|
|
NM_001382.4(DPAGT1):c.400C>G (p.Leu134Val)
|
rs1946487222
|
|
NM_001382.4(DPAGT1):c.404C>T (p.Pro135Leu)
|
rs2134913441
|
|
NM_001382.4(DPAGT1):c.406C>A (p.Leu136Ile)
|
rs1946487020
|
|
NM_001382.4(DPAGT1):c.41A>G (p.Asn14Ser)
|
rs373044813
|
|
NM_001382.4(DPAGT1):c.423C>G (p.Phe141Leu)
|
rs1403883479
|
|
NM_001382.4(DPAGT1):c.425C>G (p.Thr142Ser)
|
|
|
NM_001382.4(DPAGT1):c.428A>G (p.Asn143Ser)
|
|
|
NM_001382.4(DPAGT1):c.441G>A (p.Thr147=)
|
|
|
NM_001382.4(DPAGT1):c.444C>T (p.Thr148=)
|
|
|
NM_001382.4(DPAGT1):c.448G>A (p.Val150Met)
|
rs1555207796
|
|
NM_001382.4(DPAGT1):c.452T>A (p.Val151Glu)
|
|
|
NM_001382.4(DPAGT1):c.453G>A (p.Val151=)
|
|
|
NM_001382.4(DPAGT1):c.457A>C (p.Lys153Gln)
|
rs1946485389
|
|
NM_001382.4(DPAGT1):c.462C>T (p.Pro154=)
|
|
|
NM_001382.4(DPAGT1):c.463T>G (p.Phe155Val)
|
rs766131005
|
|
NM_001382.4(DPAGT1):c.466C>A (p.Arg156Ser)
|
|
|
NM_001382.4(DPAGT1):c.48C>T (p.Ile16=)
|
rs1020413992
|
|
NM_001382.4(DPAGT1):c.497-4G>A
|
rs771175893
|
|
NM_001382.4(DPAGT1):c.497-4G>C
|
rs771175893
|
|
NM_001382.4(DPAGT1):c.503T>C (p.Leu168Pro)
|
rs397515329
|
|
NM_001382.4(DPAGT1):c.574G>A (p.Gly192Ser)
|
rs768464558
|
|
NM_001382.4(DPAGT1):c.574G>C (p.Gly192Arg)
|
rs768464558
|
|
NM_001382.4(DPAGT1):c.575G>T (p.Gly192Val)
|
rs2134911057
|
|
NM_001382.4(DPAGT1):c.592T>A (p.Ser198Thr)
|
|
|
NM_001382.4(DPAGT1):c.637T>C (p.Leu213=)
|
|
|
NM_001382.4(DPAGT1):c.643+17G>C
|
|
|
NM_001382.4(DPAGT1):c.643+1G>A
|
rs2134910617
|
|
NM_001382.4(DPAGT1):c.644-12T>G
|
|
|
NM_001382.4(DPAGT1):c.644-18_644-15del
|
rs750678639
|
|
NM_001382.4(DPAGT1):c.644-1G>T
|
rs2134903748
|
|
NM_001382.4(DPAGT1):c.645T>C (p.Gly215=)
|
rs2134903738
|
|
NM_001382.4(DPAGT1):c.660T>G (p.Asp220Glu)
|
rs1386440899
|
|
NM_001382.4(DPAGT1):c.663T>C (p.His221=)
|
rs755080683
|
|
NM_001382.4(DPAGT1):c.669T>C (p.Phe223=)
|
|
|
NM_001382.4(DPAGT1):c.678C>T (p.Tyr226=)
|
rs1592226752
|
|
NM_001382.4(DPAGT1):c.681C>G (p.Phe227Leu)
|
|
|
NM_001382.4(DPAGT1):c.691T>C (p.Phe231Leu)
|
|
|
NM_001382.4(DPAGT1):c.693T>C (p.Phe231=)
|
|
|
NM_001382.4(DPAGT1):c.695T>C (p.Phe232Ser)
|
rs1221039307
|
|
NM_001382.4(DPAGT1):c.698T>C (p.Phe233Ser)
|
rs1450090350
|
|
NM_001382.4(DPAGT1):c.6G>A (p.Trp2Ter)
|
rs2134919748
|
|
NM_001382.4(DPAGT1):c.700A>G (p.Thr234Ala)
|
rs2134903441
|
|
NM_001382.4(DPAGT1):c.710G>C (p.Gly237Ala)
|
|
|
NM_001382.4(DPAGT1):c.715C>T (p.Leu239Phe)
|
rs765676413
|
|
NM_001382.4(DPAGT1):c.729-16C>G
|
|
|
NM_001382.4(DPAGT1):c.729-16C>T
|
|
|
NM_001382.4(DPAGT1):c.731A>G (p.Tyr244Cys)
|
|
|
NM_001382.4(DPAGT1):c.732C>A (p.Tyr244Ter)
|
|
|
NM_001382.4(DPAGT1):c.735A>G (p.Pro245=)
|
rs1946429703
|
|
NM_001382.4(DPAGT1):c.744G>A (p.Val248=)
|
|
|
NM_001382.4(DPAGT1):c.750G>A (p.Val250=)
|
rs2134901634
|
|
NM_001382.4(DPAGT1):c.762_765del (p.Cys255fs)
|
rs2134901573
|
|
NM_001382.4(DPAGT1):c.76G>A (p.Val26Ile)
|
|
|
NM_001382.4(DPAGT1):c.773C>A (p.Ala258Asp)
|
rs780944148
|
|
NM_001382.4(DPAGT1):c.77T>C (p.Val26Ala)
|
|
|
NM_001382.4(DPAGT1):c.789C>T (p.Ala263=)
|
|
|
NM_001382.4(DPAGT1):c.79del (p.Thr27fs)
|
|
|
NM_001382.4(DPAGT1):c.810C>T (p.His270=)
|
rs1946427343
|
|
NM_001382.4(DPAGT1):c.81C>G (p.Thr27=)
|
rs145055477
|
|
NM_001382.4(DPAGT1):c.822C>T (p.Thr274=)
|
rs756625547
|
|
NM_001382.4(DPAGT1):c.850T>C (p.Phe284Leu)
|
|
|
NM_001382.4(DPAGT1):c.859C>T (p.Leu287Phe)
|
rs1946426502
|
|
NM_001382.4(DPAGT1):c.85A>T (p.Ile29Phe)
|
rs397515328
|
|
NM_001382.4(DPAGT1):c.879C>T (p.Leu293=)
|
rs1592226120
|
|
NM_001382.4(DPAGT1):c.888C>T (p.Ile296=)
|
|
|
NM_001382.4(DPAGT1):c.88C>T (p.Pro30Ser)
|
rs1393162163
|
|
NM_001382.4(DPAGT1):c.908G>A (p.Arg303His)
|
rs771322037
|
|
NM_001382.4(DPAGT1):c.908G>T (p.Arg303Leu)
|
|
|
NM_001382.4(DPAGT1):c.917+7G>A
|
|
|
NM_001382.4(DPAGT1):c.918-10C>A
|
rs764154648
|
|
NM_001382.4(DPAGT1):c.918-15A>G
|
|
|
NM_001382.4(DPAGT1):c.930G>A (p.Lys310=)
|
rs2134899492
|
|
NM_001382.4(DPAGT1):c.944A>G (p.Glu315Gly)
|
rs1946419999
|
|
NM_001382.4(DPAGT1):c.976C>G (p.Leu326Val)
|
rs755527720
|
|
NM_001382.4(DPAGT1):c.993C>T (p.Thr331=)
|
rs1946418951
|
|
NM_001382.4(DPAGT1):c.9C>T (p.Ala3=)
|
|
|
NM_002435.3(MPI):c.*103T>C
|
rs2064845890
|
|
NM_002435.3(MPI):c.*129G>C
|
rs80226376
|
|
NM_002435.3(MPI):c.*176G>A
|
rs886051484
|
|
NM_002435.3(MPI):c.*203G>A
|
rs562995056
|
|
NM_002435.3(MPI):c.*205G>T
|
rs2064847544
|
|
NM_002435.3(MPI):c.*393G>A
|
rs886051485
|
|
NM_002435.3(MPI):c.-1_3del (p.Met1fs)
|
rs1555478015
|
|
NM_002435.3(MPI):c.1001_1002dup (p.Leu335fs)
|
|
|
NM_002435.3(MPI):c.1001_1004del (p.Tyr334fs)
|
rs2141208628
|
|
NM_002435.3(MPI):c.1006_1007del (p.Ser336fs)
|
|
|
NM_002435.3(MPI):c.1008A>C (p.Ser336=)
|
|
|
NM_002435.3(MPI):c.1008A>T (p.Ser336=)
|
rs2141208646
|
|
NM_002435.3(MPI):c.1017C>T (p.Asp339=)
|
|
|
NM_002435.3(MPI):c.1017_1024delinsACCCCTT (p.Asp339fs)
|
|
|
NM_002435.3(MPI):c.1020C>T (p.Pro340=)
|
rs2141208695
|
|
NM_002435.3(MPI):c.1022del (p.Pro341fs)
|
|
|
NM_002435.3(MPI):c.1022dup (p.Val342fs)
|
rs765310894
|
|
NM_002435.3(MPI):c.1023del (p.Val342fs)
|
rs1555479441
|
|
NM_002435.3(MPI):c.1032C>G (p.Asp344Glu)
|
rs2064831979
|
|
NM_002435.3(MPI):c.1034dup (p.Thr346fs)
|
rs2141208718
|
|
NM_002435.3(MPI):c.1053+14T>C
|
|
|
NM_002435.3(MPI):c.1053+16T>C
|
|
|
NM_002435.3(MPI):c.1053+20G>C
|
|
|
NM_002435.3(MPI):c.1053+2T>C
|
rs2141208760
|
|
NM_002435.3(MPI):c.1053+6_1053+9del
|
rs1279545559
|
|
NM_002435.3(MPI):c.1054-11T>C
|
|
|
NM_002435.3(MPI):c.1054-17_1054-15del
|
|
|
NM_002435.3(MPI):c.1054-34_1054-11del
|
rs1555479532
|
|
NM_002435.3(MPI):c.1054-6G>A
|
|
|
NM_002435.3(MPI):c.1054-7T>C
|
rs2141209464
|
|
NM_002435.3(MPI):c.1054-8C>G
|
rs2141209458
|
|
NM_002435.3(MPI):c.1054-9C>T
|
|
|
NM_002435.3(MPI):c.1054del
|
rs752976348
|
|
NM_002435.3(MPI):c.1058del (p.Pro353fs)
|
|
|
NM_002435.3(MPI):c.1061G>A (p.Gly354Asp)
|
|
|
NM_002435.3(MPI):c.1062C>T (p.Gly354=)
|
|
|
NM_002435.3(MPI):c.1064_1065del (p.Ser355fs)
|
rs2064839839
|
|
NM_002435.3(MPI):c.1069A>G (p.Thr357Ala)
|
rs2064840019
|
|
NM_002435.3(MPI):c.1074A>G (p.Glu358=)
|
rs2141209541
|
|
NM_002435.3(MPI):c.1083C>T (p.Val361=)
|
|
|
NM_002435.3(MPI):c.1086G>A (p.Leu362=)
|
rs905233208
|
|
NM_002435.3(MPI):c.1087del (p.Ala363fs)
|
rs2141209567
|
|
NM_002435.3(MPI):c.1095C>T (p.Asp365=)
|
rs2064840337
|
|
NM_002435.3(MPI):c.1096T>C (p.Ser366Pro)
|
rs1555479551
|
|
NM_002435.3(MPI):c.1098T>G (p.Ser366=)
|
|
|
NM_002435.3(MPI):c.1111C>T (p.Leu371=)
|
rs1403486851
|
|
NM_002435.3(MPI):c.1113G>A (p.Leu371=)
|
rs2141209616
|
|
NM_002435.3(MPI):c.1113G>T (p.Leu371=)
|
|
|
NM_002435.3(MPI):c.1120C>T (p.Gln374Ter)
|
|
|
NM_002435.3(MPI):c.1122G>A (p.Gln374=)
|
|
|
NM_002435.3(MPI):c.1124G>A (p.Gly375Glu)
|
rs2064840907
|
|
NM_002435.3(MPI):c.1127_1128del (p.Thr376fs)
|
|
|
NM_002435.3(MPI):c.1134del (p.Ile378fs)
|
|
|
NM_002435.3(MPI):c.1137C>T (p.Ala379=)
|
rs2141209695
|
|
NM_002435.3(MPI):c.1137_1140del (p.Ser380fs)
|
|
|
NM_002435.3(MPI):c.1140C>T (p.Ser380=)
|
rs2141209705
|
|
NM_002435.3(MPI):c.1143A>C (p.Thr381=)
|
rs1595824783
|
|
NM_002435.3(MPI):c.1152C>G (p.Thr384=)
|
|
|
NM_002435.3(MPI):c.1152C>T (p.Thr384=)
|
rs2064841631
|
|
NM_002435.3(MPI):c.1157C>T (p.Thr386Ile)
|
rs2141209748
|
|
NM_002435.3(MPI):c.1166del (p.Pro389fs)
|
|
|
NM_002435.3(MPI):c.1170G>A (p.Leu390=)
|
|
|
NM_002435.3(MPI):c.1170G>C (p.Leu390=)
|
|
|
NM_002435.3(MPI):c.1170G>T (p.Leu390=)
|
|
|
NM_002435.3(MPI):c.1173A>G (p.Gln391=)
|
|
|
NM_002435.3(MPI):c.1179T>C (p.Gly393=)
|
|
|
NM_002435.3(MPI):c.1188C>G (p.Leu396=)
|
|
|
NM_002435.3(MPI):c.1188C>T (p.Leu396=)
|
|
|
NM_002435.3(MPI):c.1197G>A (p.Gly399=)
|
rs2064842732
|
|
NM_002435.3(MPI):c.1205A>G (p.Glu402Gly)
|
rs863225086
|
|
NM_002435.3(MPI):c.1207A>T (p.Ser403Cys)
|
|
|
NM_002435.3(MPI):c.120del (p.Ile40fs)
|
rs1057516466
|
|
NM_002435.3(MPI):c.1212C>T (p.Val404=)
|
rs2064843052
|
|
NM_002435.3(MPI):c.1216C>T (p.Leu406=)
|
rs1268364682
|
|
NM_002435.3(MPI):c.1224T>A (p.Leu408=)
|
|
|
NM_002435.3(MPI):c.1227T>C (p.Thr409=)
|
|
|
NM_002435.3(MPI):c.122del (p.Ala41fs)
|
|
|
NM_002435.3(MPI):c.1233G>T (p.Pro411=)
|
rs746867428
|
|
NM_002435.3(MPI):c.1236G>A (p.Lys412=)
|
rs2141209962
|
|
NM_002435.3(MPI):c.124G>C (p.Glu42Gln)
|
|
|
NM_002435.3(MPI):c.1260C>A (p.Cys420Ter)
|
rs1555479632
|
|
NM_002435.3(MPI):c.1263T>C (p.Cys421=)
|
|
|
NM_002435.3(MPI):c.1264C>T (p.Leu422=)
|
|
|
NM_002435.3(MPI):c.1266G>C (p.Leu422=)
|
rs779158025
|
|
NM_002435.3(MPI):c.1267C>T (p.Leu423=)
|
rs2141210022
|
|
NM_002435.3(MPI):c.1269G>C (p.Leu423=)
|
rs371664469
|
|
NM_002435.3(MPI):c.126G>A (p.Glu42=)
|
|
|
NM_002435.3(MPI):c.129C>T (p.Asp43=)
|
rs2141196159
|
|
NM_002435.3(MPI):c.138T>C (p.Tyr46=)
|
rs2141196187
|
|
NM_002435.3(MPI):c.138del (p.Pro45_Tyr46insTer)
|
|
|
NM_002435.3(MPI):c.140C>G (p.Ala47Gly)
|
|
|
NM_002435.3(MPI):c.141A>G (p.Ala47=)
|
|
|
NM_002435.3(MPI):c.144+10G>A
|
rs2064712214
|
|
NM_002435.3(MPI):c.144+13C>T
|
|
|
NM_002435.3(MPI):c.144+15G>A
|
|
|
NM_002435.3(MPI):c.144+19T>G
|
|
|
NM_002435.3(MPI):c.144+1G>A
|
|
|
NM_002435.3(MPI):c.144+20T>C
|
|
|
NM_002435.3(MPI):c.144+2T>C
|
|
|
NM_002435.3(MPI):c.144+7C>T
|
|
|
NM_002435.3(MPI):c.145-10G>A
|
|
|
NM_002435.3(MPI):c.145-13C>T
|
|
|
NM_002435.3(MPI):c.145-1G>A
|
rs1057516573
|
|
NM_002435.3(MPI):c.145-5T>C
|
|
|
NM_002435.3(MPI):c.145-9T>C
|
rs2141197441
|
|
NM_002435.3(MPI):c.150G>A (p.Trp50Ter)
|
rs1406722622
|
|
NM_002435.3(MPI):c.156G>A (p.Gly52=)
|
rs2141197487
|
|
NM_002435.3(MPI):c.159T>C (p.Thr53=)
|
|
|
NM_002435.3(MPI):c.15_16+5del
|
rs2141194911
|
|
NM_002435.3(MPI):c.16+11G>A
|
|
|
NM_002435.3(MPI):c.16+13C>T
|
|
|
NM_002435.3(MPI):c.16+15G>A
|
|
|
NM_002435.3(MPI):c.16+15G>C
|
|
|
NM_002435.3(MPI):c.16+15G>T
|
|
|
NM_002435.3(MPI):c.16+17G>A
|
|
|
NM_002435.3(MPI):c.16+17G>C
|
|
|
NM_002435.3(MPI):c.16+18G>T
|
|
|
NM_002435.3(MPI):c.16+18dup
|
|
|
NM_002435.3(MPI):c.16+1G>A
|
|
|
NM_002435.3(MPI):c.16+1G>T
|
|
|
NM_002435.3(MPI):c.16+7C>T
|
|
|
NM_002435.3(MPI):c.16+8A>T
|
|
|
NM_002435.3(MPI):c.166dup (p.Arg56fs)
|
rs786204593
|
|
NM_002435.3(MPI):c.169G>A (p.Gly57Arg)
|
rs1225376562
|
|
NM_002435.3(MPI):c.17-12C>G
|
|
|
NM_002435.3(MPI):c.17-13T>C
|
|
|
NM_002435.3(MPI):c.17-2A>G
|
|
|
NM_002435.3(MPI):c.17-4C>G
|
|
|
NM_002435.3(MPI):c.170G>T (p.Gly57Val)
|
|
|
NM_002435.3(MPI):c.171G>A (p.Gly57=)
|
|
|
NM_002435.3(MPI):c.177C>A (p.Ala59=)
|
|
|
NM_002435.3(MPI):c.177C>T (p.Ala59=)
|
rs2064724687
|
|
NM_002435.3(MPI):c.180G>A (p.Lys60=)
|
|
|
NM_002435.3(MPI):c.183_184delinsAA (p.Leu62Ile)
|
|
|
NM_002435.3(MPI):c.194G>A (p.Arg65His)
|
|
|
NM_002435.3(MPI):c.199dup (p.Ser67fs)
|
|
|
NM_002435.3(MPI):c.204G>A (p.Gln68=)
|
|
|
NM_002435.3(MPI):c.206del (p.Lys69fs)
|
|
|
NM_002435.3(MPI):c.207G>A (p.Lys69=)
|
|
|
NM_002435.3(MPI):c.222G>A (p.Trp74Ter)
|
|
|
NM_002435.3(MPI):c.225T>C (p.Ile75=)
|
|
|
NM_002435.3(MPI):c.231G>A (p.Glu77=)
|
|
|
NM_002435.3(MPI):c.238G>A (p.Asp80Asn)
|
rs1444877183
|
|
NM_002435.3(MPI):c.246G>A (p.Leu82=)
|
|
|
NM_002435.3(MPI):c.249C>A (p.Gly83=)
|
rs146863816
|
|
NM_002435.3(MPI):c.249C>T (p.Gly83=)
|
|
|
NM_002435.3(MPI):c.251C>A (p.Ser84Ter)
|
|
|
NM_002435.3(MPI):c.258C>T (p.Val86=)
|
rs2141197661
|
|
NM_002435.3(MPI):c.282G>C (p.Leu94=)
|
rs2141197716
|
|
NM_002435.3(MPI):c.288C>T (p.Phe96=)
|
rs2064726439
|
|
NM_002435.3(MPI):c.303C>G (p.Leu101=)
|
|
|
NM_002435.3(MPI):c.306A>G (p.Ser102=)
|
rs2141197776
|
|
NM_002435.3(MPI):c.315A>C (p.Thr105=)
|
rs755946117
|
|
NM_002435.3(MPI):c.315A>T (p.Thr105=)
|
|
|
NM_002435.3(MPI):c.319C>T (p.Leu107=)
|
rs2064727157
|
|
NM_002435.3(MPI):c.319del (p.Leu107fs)
|
|
|
NM_002435.3(MPI):c.324C>T (p.Ser108=)
|
rs2141197827
|
|
NM_002435.3(MPI):c.335_338del (p.His112fs)
|
rs2141197839
|
|
NM_002435.3(MPI):c.339_342dup (p.Lys115Ter)
|
rs1661886822
|
|
NM_002435.3(MPI):c.33T>G (p.Cys11Trp)
|
rs2064708840
|
|
NM_002435.3(MPI):c.342C>T (p.Asn114=)
|
|
|
NM_002435.3(MPI):c.345+15_345+16delinsAT
|
rs1064794476
|
|
NM_002435.3(MPI):c.345+17G>A
|
|
|
NM_002435.3(MPI):c.345+19T>C
|
|
|
NM_002435.3(MPI):c.345+1G>A
|
rs1555478333
|
|
NM_002435.3(MPI):c.346-10C>G
|
|
|
NM_002435.3(MPI):c.346-12G>A
|
|
|
NM_002435.3(MPI):c.346-15C>T
|
|
|
NM_002435.3(MPI):c.346-16C>T
|
|
|
NM_002435.3(MPI):c.346-18C>A
|
|
|
NM_002435.3(MPI):c.346-5C>T
|
|
|
NM_002435.3(MPI):c.346-8C>T
|
rs906781914
|
|
NM_002435.3(MPI):c.351G>A (p.Leu117=)
|
|
|
NM_002435.3(MPI):c.360G>A (p.Lys120=)
|
|
|
NM_002435.3(MPI):c.362T>C (p.Leu121Pro)
|
|
|
NM_002435.3(MPI):c.363G>A (p.Leu121=)
|
rs879379479
|
|
NM_002435.3(MPI):c.366C>T (p.His122=)
|
|
|
NM_002435.3(MPI):c.369C>T (p.Leu123=)
|
|
|
NM_002435.3(MPI):c.36G>C (p.Ala12=)
|
|
|
NM_002435.3(MPI):c.370dup (p.Gln124fs)
|
|
|
NM_002435.3(MPI):c.381G>A (p.Gln127=)
|
|
|
NM_002435.3(MPI):c.391G>A (p.Asp131Asn)
|
|
|
NM_002435.3(MPI):c.396C>T (p.Ala132=)
|
rs2141199526
|
|
NM_002435.3(MPI):c.402C>T (p.His134=)
|
rs2141199543
|
|
NM_002435.3(MPI):c.413T>C (p.Met138Thr)
|
rs104894495
|
|
NM_002435.3(MPI):c.417C>T (p.Ala139=)
|
|
|
NM_002435.3(MPI):c.419T>C (p.Ile140Thr)
|
|
|
NM_002435.3(MPI):c.426C>G (p.Leu142=)
|
|
|
NM_002435.3(MPI):c.432C>G (p.Pro144=)
|
rs145767808
|
|
NM_002435.3(MPI):c.432C>T (p.Pro144=)
|
rs145767808
|
|
NM_002435.3(MPI):c.432del (p.Phe145fs)
|
|
|
NM_002435.3(MPI):c.43C>T (p.Gln15Ter)
|
|
|
NM_002435.3(MPI):c.43_44insCTGGGGGA (p.Gln15fs)
|
|
|
NM_002435.3(MPI):c.444G>A (p.Leu148=)
|
|
|
NM_002435.3(MPI):c.445T>C (p.Cys149Arg)
|
rs2064746068
|
|
NM_002435.3(MPI):c.44del (p.Gln15fs)
|
|
|
NM_002435.3(MPI):c.455G>A (p.Arg152Gln)
|
|
|
NM_002435.3(MPI):c.455G>C (p.Arg152Pro)
|
rs766458792
|
|
NM_002435.3(MPI):c.459A>G (p.Pro153=)
|
|
|
NM_002435.3(MPI):c.45G>C (p.Gln15His)
|
rs371649838
|
|
NM_002435.3(MPI):c.465G>A (p.Glu155=)
|
|
|
NM_002435.3(MPI):c.471T>A (p.Ile157=)
|
|
|
NM_002435.3(MPI):c.471T>C (p.Ile157=)
|
|
|
NM_002435.3(MPI):c.477C>T (p.Thr159=)
|
|
|
NM_002435.3(MPI):c.487+10G>A
|
rs2141199719
|
|
NM_002435.3(MPI):c.487+12A>G
|
|
|
NM_002435.3(MPI):c.487+14A>C
|
|
|
NM_002435.3(MPI):c.487+17G>A
|
|
|
NM_002435.3(MPI):c.487+1G>A
|
|
|
NM_002435.3(MPI):c.487+7T>C
|
|
|
NM_002435.3(MPI):c.488-12G>A
|
rs969925962
|
|
NM_002435.3(MPI):c.488-12G>C
|
|
|
NM_002435.3(MPI):c.488-17G>A
|
|
|
NM_002435.3(MPI):c.488-1G>A
|
rs759579169
|
|
NM_002435.3(MPI):c.488-5T>C
|
rs2141200247
|
|
NM_002435.3(MPI):c.490del (p.Val164fs)
|
|
|
NM_002435.3(MPI):c.492G>A (p.Val164=)
|
rs2141200277
|
|
NM_002435.3(MPI):c.497_498del (p.Glu166fs)
|
rs2141200280
|
|
NM_002435.3(MPI):c.507C>T (p.Phe169=)
|
|
|
NM_002435.3(MPI):c.527C>T (p.Ala176Val)
|
rs1256364766
|
|
NM_002435.3(MPI):c.530C>T (p.Thr177Ile)
|
|
|
NM_002435.3(MPI):c.530dup (p.His178fs)
|
|
|
NM_002435.3(MPI):c.531A>G (p.Thr177=)
|
|
|
NM_002435.3(MPI):c.533A>C (p.His178Pro)
|
rs2141200350
|
|
NM_002435.3(MPI):c.534C>T (p.His178=)
|
rs775688839
|
|
NM_002435.3(MPI):c.535del (p.His178_Leu179insTer)
|
rs1555478582
|
|
NM_002435.3(MPI):c.546C>T (p.Thr182=)
|
rs2064752091
|
|
NM_002435.3(MPI):c.567T>C (p.Ala189=)
|
|
|
NM_002435.3(MPI):c.56_65del (p.Gly19fs)
|
|
|
NM_002435.3(MPI):c.576C>G (p.Ser192=)
|
|
|
NM_002435.3(MPI):c.576C>T (p.Ser192=)
|
rs794727716
|
|
NM_002435.3(MPI):c.587G>A (p.Ser196Asn)
|
|
|
NM_002435.3(MPI):c.591T>C (p.Cys197=)
|
rs2141200469
|
|
NM_002435.3(MPI):c.593dup (p.Ser199fs)
|
|
|
NM_002435.3(MPI):c.594C>T (p.Phe198=)
|
rs1399029075
|
|
NM_002435.3(MPI):c.602T>C (p.Leu201Pro)
|
rs2064752971
|
|
NM_002435.3(MPI):c.60G>A (p.Lys20=)
|
rs779832985
|
|
NM_002435.3(MPI):c.612_615del (p.Ser204fs)
|
|
|
NM_002435.3(MPI):c.613G>T (p.Glu205Ter)
|
|
|
NM_002435.3(MPI):c.618G>A (p.Lys206=)
|
rs777538825
|
|
NM_002435.3(MPI):c.627G>A (p.Val209=)
|
|
|
NM_002435.3(MPI):c.627G>T (p.Val209=)
|
|
|
NM_002435.3(MPI):c.629del (p.Val210fs)
|
rs1555478606
|
|
NM_002435.3(MPI):c.630G>A (p.Val210=)
|
|
|
NM_002435.3(MPI):c.631del (p.Glu211fs)
|
rs1374119101
|
|
NM_002435.3(MPI):c.633A>G (p.Glu211=)
|
rs2141200588
|
|
NM_002435.3(MPI):c.643C>T (p.Leu215=)
|
rs1595818707
|
|
NM_002435.3(MPI):c.647_650del (p.Leu215_Leu216insTer)
|
rs2141200617
|
|
NM_002435.3(MPI):c.657G>A (p.Arg219=)
|
rs1318782866
|
|
NM_002435.3(MPI):c.657G>C (p.Arg219=)
|
rs1318782866
|
|
NM_002435.3(MPI):c.657del (p.Ile220fs)
|
|
|
NM_002435.3(MPI):c.65del (p.Gly22fs)
|
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NM_002435.3(MPI):c.661T>A (p.Ser221Thr)
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NM_002435.3(MPI):c.670+10G>A
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rs2141200747
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NM_002435.3(MPI):c.670+13A>G
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NM_002435.3(MPI):c.670+14T>C
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NM_002435.3(MPI):c.670+15A>C
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NM_002435.3(MPI):c.670+3G>A
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NM_002435.3(MPI):c.670+7A>G
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NM_002435.3(MPI):c.670+8_670+9del
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NM_002435.3(MPI):c.670+8_670+9inv
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NM_002435.3(MPI):c.670+9A>C
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rs7495739
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NM_002435.3(MPI):c.670+9A>G
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rs7495739
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NM_002435.3(MPI):c.670+9A>T
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rs7495739
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NM_002435.3(MPI):c.670+9del
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NM_002435.3(MPI):c.670+9dup
|
rs1595818806
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NM_002435.3(MPI):c.671-13_671-12del
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NM_002435.3(MPI):c.671-15C>G
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NM_002435.3(MPI):c.671-15C>T
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NM_002435.3(MPI):c.671-7C>T
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rs2141206472
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NM_002435.3(MPI):c.671-8A>T
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NM_002435.3(MPI):c.671-9G>C
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rs561678676
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NM_002435.3(MPI):c.672G>C (p.Ala224=)
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rs768186349
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NM_002435.3(MPI):c.675T>C (p.Ala225=)
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NM_002435.3(MPI):c.678C>A (p.Ala226=)
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rs199972529
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NM_002435.3(MPI):c.678C>T (p.Ala226=)
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NM_002435.3(MPI):c.679G>T (p.Gly227Ter)
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NM_002435.3(MPI):c.681A>G (p.Gly227=)
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rs1595822320
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NM_002435.3(MPI):c.693G>A (p.Glu231=)
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rs2141206565
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NM_002435.3(MPI):c.695A>G (p.Asp232Gly)
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rs765912695
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NM_002435.3(MPI):c.699C>T (p.Ile233=)
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NM_002435.3(MPI):c.6C>A (p.Ala2=)
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rs149477499
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NM_002435.3(MPI):c.6C>G (p.Ala2=)
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NM_002435.3(MPI):c.6C>T (p.Ala2=)
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rs149477499
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NM_002435.3(MPI):c.706dup (p.Glu236fs)
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NM_002435.3(MPI):c.713del (p.Leu238fs)
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rs745432667
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NM_002435.3(MPI):c.727C>T (p.Gln243Ter)
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rs749911553
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NM_002435.3(MPI):c.740del (p.Gly247fs)
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rs1057517115
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NM_002435.3(MPI):c.744T>C (p.Asp248=)
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rs2141206666
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NM_002435.3(MPI):c.745dup (p.Ile249fs)
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rs2141206676
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NM_002435.3(MPI):c.747C>A (p.Ile249=)
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rs778875616
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NM_002435.3(MPI):c.751del (p.Cys251fs)
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NM_002435.3(MPI):c.753del (p.Phe252fs)
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rs2141206722
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NM_002435.3(MPI):c.764A>G (p.Tyr255Cys)
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NM_002435.3(MPI):c.764_776del (p.Tyr255fs)
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NM_002435.3(MPI):c.765C>T (p.Tyr255=)
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NM_002435.3(MPI):c.769C>T (p.Leu257=)
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rs1595822532
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NM_002435.3(MPI):c.771G>A (p.Leu257=)
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rs2141206771
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NM_002435.3(MPI):c.774C>T (p.Asn258=)
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NM_002435.3(MPI):c.775C>T (p.Leu259=)
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rs2141206776
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NM_002435.3(MPI):c.777G>A (p.Leu259=)
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NM_002435.3(MPI):c.781A>G (p.Thr261Ala)
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rs2064816825
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NM_002435.3(MPI):c.783C>A (p.Thr261=)
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rs2141206797
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NM_002435.3(MPI):c.783C>T (p.Thr261=)
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rs2141206797
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NM_002435.3(MPI):c.786G>A (p.Leu262=)
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rs1301498236
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NM_002435.3(MPI):c.78A>G (p.Glu26=)
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rs1596440826
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NM_002435.3(MPI):c.792T>C (p.Pro264=)
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NM_002435.3(MPI):c.792dup (p.Gly265fs)
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NM_002435.3(MPI):c.793G>A (p.Gly265Arg)
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rs2064817105
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NM_002435.3(MPI):c.796G>A (p.Glu266Lys)
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rs1595822583
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NM_002435.3(MPI):c.802_803del (p.Met268fs)
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rs1555479227
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NM_002435.3(MPI):c.810G>A (p.Leu270=)
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NM_002435.3(MPI):c.810G>C (p.Leu270=)
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rs2141206859
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NM_002435.3(MPI):c.816C>G (p.Ala272=)
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rs2064817492
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NM_002435.3(MPI):c.818delinsTC (p.Asn273fs)
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NM_002435.3(MPI):c.820dup (p.Val274fs)
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rs1567268668
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NM_002435.3(MPI):c.830_831del (p.Ala277fs)
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NM_002435.3(MPI):c.834C>T (p.Tyr278=)
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NM_002435.3(MPI):c.841G>T (p.Gly281Ter)
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NM_002435.3(MPI):c.843_844+1del
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NM_002435.3(MPI):c.844+10A>G
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NM_002435.3(MPI):c.844+14C>G
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NM_002435.3(MPI):c.844+1G>A
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rs1394866894
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NM_002435.3(MPI):c.844+2T>C
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NM_002435.3(MPI):c.844+2T>G
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rs2141206921
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NM_002435.3(MPI):c.844+9C>G
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rs2141206935
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NM_002435.3(MPI):c.845-10G>C
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rs748693066
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NM_002435.3(MPI):c.845-14G>A
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NM_002435.3(MPI):c.845-14_845-12del
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NM_002435.3(MPI):c.845-15C>T
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NM_002435.3(MPI):c.845-17G>T
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NM_002435.3(MPI):c.845-18dup
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NM_002435.3(MPI):c.845-20C>T
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NM_002435.3(MPI):c.845-2A>G
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rs2064828055
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NM_002435.3(MPI):c.845-2del
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rs1555479341
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NM_002435.3(MPI):c.845-4C>A
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NM_002435.3(MPI):c.845-9T>C
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NM_002435.3(MPI):c.84_88del (p.Arg29fs)
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rs753839890
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NM_002435.3(MPI):c.864G>A (p.Ala288=)
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rs1017060960
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NM_002435.3(MPI):c.875_879dup (p.Val294fs)
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NM_002435.3(MPI):c.880dup (p.Val294fs)
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rs1555479351
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NM_002435.3(MPI):c.882T>G (p.Val294=)
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rs2141208380
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NM_002435.3(MPI):c.894G>A (p.Leu298=)
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NM_002435.3(MPI):c.89_113del (p.Leu30fs)
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rs1555478118
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NM_002435.3(MPI):c.914T>A (p.Val305Glu)
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NM_002435.3(MPI):c.91T>C (p.Leu31=)
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rs765537697
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NM_002435.3(MPI):c.920C>G (p.Thr307Ser)
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NM_002435.3(MPI):c.936C>T (p.Leu312=)
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rs1362422803
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NM_002435.3(MPI):c.939C>T (p.Ser313=)
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NM_002435.3(MPI):c.945C>T (p.Thr315=)
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NM_002435.3(MPI):c.948T>A (p.Pro316=)
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rs778221310
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NM_002435.3(MPI):c.952_957del (p.Ser318_Ser319del)
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rs1555479384
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NM_002435.3(MPI):c.95C>T (p.Ala32Val)
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rs1596440893
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NM_002435.3(MPI):c.969C>G (p.Leu323=)
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NM_002435.3(MPI):c.969_970del (p.Phe324fs)
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NM_002435.3(MPI):c.973del (p.Leu325fs)
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NM_002435.3(MPI):c.984G>C (p.Arg328=)
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NM_002435.3(MPI):c.984G>T (p.Arg328=)
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NM_002435.3(MPI):c.987T>C (p.Ser329=)
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NM_002435.3(MPI):c.989_1005dup (p.Ser336fs)
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NM_002435.3(MPI):c.991del (p.Glu331fs)
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rs1555479423
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NM_002435.3(MPI):c.993A>G (p.Glu331=)
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rs2141208617
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NM_002435.3(MPI):c.995A>T (p.Asp332Val)
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NM_002435.3(MPI):c.996C>T (p.Asp332=)
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rs1042715923
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NM_002633.3(PGM1):c.*231C>T
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rs886046483
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NM_002633.3(PGM1):c.*388T>G
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rs1650077445
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NM_002633.3(PGM1):c.*484G>A
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rs755055776
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NM_002633.3(PGM1):c.*484G>C
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rs755055776
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NM_002633.3(PGM1):c.1014T>A (p.Ser338Arg)
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rs1553121290
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NM_002633.3(PGM1):c.1019C>G (p.Ala340Gly)
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NM_002633.3(PGM1):c.1028+13A>G
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NM_002633.3(PGM1):c.1028+18C>T
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NM_002633.3(PGM1):c.1029-19T>C
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NM_002633.3(PGM1):c.1029-8C>G
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rs752232600
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NM_002633.3(PGM1):c.1044A>C (p.Thr348=)
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NM_002633.3(PGM1):c.1058A>G (p.Tyr353Cys)
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NM_002633.3(PGM1):c.105C>T (p.Tyr35=)
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NM_002633.3(PGM1):c.1065C>A (p.Thr355=)
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rs773677629
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NM_002633.3(PGM1):c.1065C>T (p.Thr355=)
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rs773677629
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NM_002633.3(PGM1):c.1067C>T (p.Pro356Leu)
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NM_002633.3(PGM1):c.107C>A (p.Ala36Glu)
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rs146477640
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NM_002633.3(PGM1):c.107C>T (p.Ala36Val)
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NM_002633.3(PGM1):c.1081T>A (p.Phe361Ile)
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NM_002633.3(PGM1):c.1083T>C (p.Phe361=)
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NM_002633.3(PGM1):c.1086dup (p.Gly363fs)
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rs1170935238
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NM_002633.3(PGM1):c.108G>A (p.Ala36=)
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NM_002633.3(PGM1):c.1091del (p.Asn364fs)
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rs1557437034
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NM_002633.3(PGM1):c.1106G>A (p.Ser369Asn)
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NM_002633.3(PGM1):c.1115C>T (p.Ser372Phe)
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NM_002633.3(PGM1):c.112A>T (p.Asn38Tyr)
|
rs587777402
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NM_002633.3(PGM1):c.1138G>A (p.Gly380Arg)
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NM_002633.3(PGM1):c.1141A>G (p.Thr381Ala)
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NM_002633.3(PGM1):c.1144G>A (p.Gly382Ser)
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NM_002633.3(PGM1):c.1145-10C>T
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NM_002633.3(PGM1):c.1145-11C>T
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NM_002633.3(PGM1):c.1145-1G>C
|
rs587776801
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NM_002633.3(PGM1):c.1145-6C>G
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NM_002633.3(PGM1):c.1145-6del
|
rs2100998326
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NM_002633.3(PGM1):c.1145-9C>G
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NM_002633.3(PGM1):c.1191C>A (p.Ala397=)
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NM_002633.3(PGM1):c.119T>C (p.Ile40Thr)
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NM_002633.3(PGM1):c.119del (p.Ile40fs)
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NM_002633.3(PGM1):c.1201A>G (p.Ile401Val)
|
rs760318393
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NM_002633.3(PGM1):c.1204C>G (p.Leu402Val)
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NM_002633.3(PGM1):c.1206A>C (p.Leu402=)
|
rs2100998429
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NM_002633.3(PGM1):c.1209C>A (p.Ala403=)
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NM_002633.3(PGM1):c.120C>G (p.Ile40Met)
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NM_002633.3(PGM1):c.1213C>A (p.Arg405Ser)
|
rs754131603
|
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NM_002633.3(PGM1):c.1233C>T (p.Asp411=)
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NM_002633.3(PGM1):c.1234A>C (p.Ile412Leu)
|
rs567337429
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NM_002633.3(PGM1):c.1239C>T (p.Leu413=)
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NM_002633.3(PGM1):c.123G>A (p.Gln41=)
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NM_002633.3(PGM1):c.1254A>G (p.Gln418=)
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NM_002633.3(PGM1):c.125G>A (p.Ser42Asn)
|
rs374207269
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NM_002633.3(PGM1):c.1280+12C>T
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NM_002633.3(PGM1):c.1280+22dup
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NM_002633.3(PGM1):c.1281-14G>A
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NM_002633.3(PGM1):c.1281-15C>T
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NM_002633.3(PGM1):c.1281-17T>A
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NM_002633.3(PGM1):c.1281-2A>G
|
rs1649810314
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NM_002633.3(PGM1):c.1281-5T>C
|
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NM_002633.3(PGM1):c.1291G>A (p.Glu431Lys)
|
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NM_002633.3(PGM1):c.1293G>A (p.Glu431=)
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NM_002633.3(PGM1):c.1299G>A (p.Val433=)
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NM_002633.3(PGM1):c.129C>T (p.Ile43=)
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NM_002633.3(PGM1):c.1312G>A (p.Ala438Thr)
|
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NM_002633.3(PGM1):c.134C>T (p.Ser45Phe)
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NM_002633.3(PGM1):c.1358C>G (p.Ser453Cys)
|
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NM_002633.3(PGM1):c.1371G>A (p.Lys457=)
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NM_002633.3(PGM1):c.1378_1379del (p.Ala461fs)
|
rs763428801
|
|
NM_002633.3(PGM1):c.1394T>A (p.Val465Asp)
|
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NM_002633.3(PGM1):c.1401T>A (p.Thr467=)
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NM_002633.3(PGM1):c.1411G>A (p.Ala471Thr)
|
rs148979330
|
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NM_002633.3(PGM1):c.1413C>T (p.Ala471=)
|
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NM_002633.3(PGM1):c.1422T>C (p.Phe474=)
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NM_002633.3(PGM1):c.1431C>T (p.Ser477=)
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NM_002633.3(PGM1):c.1455A>G (p.Ser485=)
|
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|
NM_002633.3(PGM1):c.1464+14G>A
|
rs2269238
|
|
NM_002633.3(PGM1):c.1464+14_1464+15delinsTA
|
|
|
NM_002633.3(PGM1):c.1464+15G>A
|
rs748510501
|
|
NM_002633.3(PGM1):c.1464+19G>C
|
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NM_002633.3(PGM1):c.1464+9A>T
|
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NM_002633.3(PGM1):c.1465-16_1465-15del
|
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|
NM_002633.3(PGM1):c.1474del (p.Leu492fs)
|
rs1376645472
|
|
NM_002633.3(PGM1):c.1496G>A (p.Arg499Gln)
|
rs770023140
|
|
NM_002633.3(PGM1):c.1500del (p.Ile500fs)
|
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|
NM_002633.3(PGM1):c.1523G>A (p.Gly508Glu)
|
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|
NM_002633.3(PGM1):c.1524G>T (p.Gly508=)
|
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|
NM_002633.3(PGM1):c.152A>G (p.Gln51Arg)
|
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NM_002633.3(PGM1):c.1530C>T (p.Ala510=)
|
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NM_002633.3(PGM1):c.1538C>T (p.Thr513Ile)
|
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|
NM_002633.3(PGM1):c.1540A>G (p.Ile514Val)
|
rs1649904020
|
|
NM_002633.3(PGM1):c.1555G>A (p.Asp519Asn)
|
|
|
NM_002633.3(PGM1):c.155G>A (p.Arg52Gln)
|
rs377179134
|
|
NM_002633.3(PGM1):c.156G>C (p.Arg52=)
|
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|
NM_002633.3(PGM1):c.1573G>A (p.Val525Ile)
|
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|
NM_002633.3(PGM1):c.157_158delinsG (p.Gln53fs)
|
rs1647935062
|
|
NM_002633.3(PGM1):c.1585A>T (p.Asn529Tyr)
|
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|
NM_002633.3(PGM1):c.1599+5C>T
|
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NM_002633.3(PGM1):c.1599+6G>A
|
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NM_002633.3(PGM1):c.1599+6G>T
|
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NM_002633.3(PGM1):c.1600-13A>G
|
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NM_002633.3(PGM1):c.1600-15C>G
|
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NM_002633.3(PGM1):c.1600-523G>A
|
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NM_002633.3(PGM1):c.1664G>A (p.Arg555His)
|
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NM_002633.3(PGM1):c.1668T>A (p.Thr556=)
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NM_002633.3(PGM1):c.1668T>G (p.Thr556=)
|
rs752885355
|
|
NM_002633.3(PGM1):c.1678G>A (p.Val560Ile)
|
rs1650066188
|
|
NM_002633.3(PGM1):c.168G>C (p.Thr56=)
|
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NM_002633.3(PGM1):c.171G>A (p.Leu57=)
|
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NM_002633.3(PGM1):c.180C>T (p.Gly60=)
|
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|
NM_002633.3(PGM1):c.184G>C (p.Asp62His)
|
rs587777403
|
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NM_002633.3(PGM1):c.199A>G (p.Met67Val)
|
rs561236041
|
|
NM_002633.3(PGM1):c.203A>T (p.Lys68Met)
|
|
|
NM_002633.3(PGM1):c.216G>C (p.Gln72His)
|
rs1280037054
|
|
NM_002633.3(PGM1):c.243C>T (p.Asn81=)
|
|
|
NM_002633.3(PGM1):c.244G>T (p.Gly82Trp)
|
rs199928376
|
|
NM_002633.3(PGM1):c.246+11C>T
|
|
|
NM_002633.3(PGM1):c.246+20_246+21delinsAA
|
|
|
NM_002633.3(PGM1):c.246+8A>G
|
|
|
NM_002633.3(PGM1):c.246G>A (p.Gly82=)
|
|
|
NM_002633.3(PGM1):c.247-5C>T
|
rs1649127861
|
|
NM_002633.3(PGM1):c.247-7C>T
|
rs1570493471
|
|
NM_002633.3(PGM1):c.249C>A (p.Ile83=)
|
rs140086116
|
|
NM_002633.3(PGM1):c.249C>T (p.Ile83=)
|
rs140086116
|
|
NM_002633.3(PGM1):c.24G>T (p.Lys8Asn)
|
|
|
NM_002633.3(PGM1):c.261T>C (p.Val87=)
|
|
|
NM_002633.3(PGM1):c.265_266delinsTT (p.Gly89Leu)
|
|
|
NM_002633.3(PGM1):c.282C>G (p.Leu94=)
|
|
|
NM_002633.3(PGM1):c.28_37del (p.Gln10fs)
|
rs759220275
|
|
NM_002633.3(PGM1):c.300C>G (p.Ser100=)
|
|
|
NM_002633.3(PGM1):c.322G>A (p.Ala108Thr)
|
rs1356647959
|
|
NM_002633.3(PGM1):c.326T>C (p.Ile109Thr)
|
|
|
NM_002633.3(PGM1):c.336C>T (p.Ile112=)
|
|
|
NM_002633.3(PGM1):c.357C>T (p.Asn119=)
|
|
|
NM_002633.3(PGM1):c.360A>G (p.Pro120=)
|
|
|
NM_002633.3(PGM1):c.361G>C (p.Gly121Arg)
|
rs398122912
|
|
NM_002633.3(PGM1):c.38A>C (p.Gln13Pro)
|
|
|
NM_002633.3(PGM1):c.399T>A (p.Ile133=)
|
|
|
NM_002633.3(PGM1):c.409+12G>C
|
|
|
NM_002633.3(PGM1):c.409+6T>C
|
rs2100982034
|
|
NM_002633.3(PGM1):c.410-11T>C
|
|
|
NM_002633.3(PGM1):c.410-13G>C
|
|
|
NM_002633.3(PGM1):c.410-18T>C
|
|
|
NM_002633.3(PGM1):c.414T>C (p.Pro138=)
|
|
|
NM_002633.3(PGM1):c.414T>G (p.Pro138=)
|
|
|
NM_002633.3(PGM1):c.423del (p.Ala142fs)
|
rs2100982320
|
|
NM_002633.3(PGM1):c.42C>T (p.Asp14=)
|
|
|
NM_002633.3(PGM1):c.460A>G (p.Ile154Val)
|
|
|
NM_002633.3(PGM1):c.463G>A (p.Glu155Lys)
|
|
|
NM_002633.3(PGM1):c.48G>A (p.Lys16=)
|
|
|
NM_002633.3(PGM1):c.511G>T (p.Gly171Ter)
|
|
|
NM_002633.3(PGM1):c.512G>A (p.Gly171Glu)
|
|
|
NM_002633.3(PGM1):c.51G>C (p.Pro17=)
|
|
|
NM_002633.3(PGM1):c.540G>A (p.Lys180=)
|
|
|
NM_002633.3(PGM1):c.556+3A>G
|
|
|
NM_002633.3(PGM1):c.557-11del
|
|
|
NM_002633.3(PGM1):c.557-5C>T
|
rs2100983821
|
|
NM_002633.3(PGM1):c.557-5del
|
|
|
NM_002633.3(PGM1):c.574G>A (p.Val192Ile)
|
|
|
NM_002633.3(PGM1):c.5T>G (p.Val2Gly)
|
|
|
NM_002633.3(PGM1):c.602G>T (p.Ser201Ile)
|
|
|
NM_002633.3(PGM1):c.606C>G (p.Ile202Met)
|
|
|
NM_002633.3(PGM1):c.60C>T (p.Ser20=)
|
|
|
NM_002633.3(PGM1):c.618T>C (p.Ser206=)
|
|
|
NM_002633.3(PGM1):c.648C>T (p.Asn216=)
|
|
|
NM_002633.3(PGM1):c.661del (p.Arg221fs)
|
rs587777405
|
|
NM_002633.3(PGM1):c.666T>C (p.Ile222=)
|
|
|
NM_002633.3(PGM1):c.682+20C>T
|
|
|
NM_002633.3(PGM1):c.683-6A>G
|
|
|
NM_002633.3(PGM1):c.689G>A (p.Gly230Glu)
|
|
|
NM_002633.3(PGM1):c.689dup (p.Pro231fs)
|
|
|
NM_002633.3(PGM1):c.696T>C (p.Tyr232=)
|
rs886046480
|
|
NM_002633.3(PGM1):c.696_699del (p.Pro231_Tyr232insTer)
|
|
|
NM_002633.3(PGM1):c.723C>G (p.Leu241=)
|
|
|
NM_002633.3(PGM1):c.723C>T (p.Leu241=)
|
|
|
NM_002633.3(PGM1):c.729C>T (p.Ala243=)
|
|
|
NM_002633.3(PGM1):c.741G>A (p.Ser247=)
|
rs142222746
|
|
NM_002633.3(PGM1):c.741G>C (p.Ser247=)
|
rs142222746
|
|
NM_002633.3(PGM1):c.753C>T (p.Cys251=)
|
|
|
NM_002633.3(PGM1):c.759T>C (p.Pro253=)
|
|
|
NM_002633.3(PGM1):c.770T>C (p.Phe257Ser)
|
|
|
NM_002633.3(PGM1):c.794A>G (p.Asn265Ser)
|
|
|
NM_002633.3(PGM1):c.801C>A (p.Thr267=)
|
|
|
NM_002633.3(PGM1):c.816G>C (p.Leu272=)
|
|
|
NM_002633.3(PGM1):c.821A>G (p.Glu274Gly)
|
|
|
NM_002633.3(PGM1):c.827T>G (p.Met276Arg)
|
rs1649325171
|
|
NM_002633.3(PGM1):c.836G>A (p.Gly279Glu)
|
|
|
NM_002633.3(PGM1):c.838G>C (p.Glu280Gln)
|
|
|
NM_002633.3(PGM1):c.871G>A (p.Gly291Arg)
|
|
|
NM_002633.3(PGM1):c.873+10A>G
|
|
|
NM_002633.3(PGM1):c.873+5G>T
|
|
|
NM_002633.3(PGM1):c.873+7A>T
|
rs1176093923
|
|
NM_002633.3(PGM1):c.874-5C>T
|
|
|
NM_002633.3(PGM1):c.874-6C>A
|
|
|
NM_002633.3(PGM1):c.874-7C>T
|
rs2100988580
|
|
NM_002633.3(PGM1):c.877C>T (p.Arg293Ter)
|
|
|
NM_002633.3(PGM1):c.87_88del (p.Phe29fs)
|
rs1570463842
|
|
NM_002633.3(PGM1):c.87_94del (p.Phe29fs)
|
|
|
NM_002633.3(PGM1):c.903G>A (p.Gly301=)
|
|
|
NM_002633.3(PGM1):c.90G>A (p.Gln30=)
|
|
|
NM_002633.3(PGM1):c.91A>G (p.Ser31Gly)
|
rs2100947698
|
|
NM_002633.3(PGM1):c.929T>C (p.Val310Ala)
|
|
|
NM_002633.3(PGM1):c.929_930del (p.Val310fs)
|
rs2100988650
|
|
NM_002633.3(PGM1):c.946_997dup (p.Arg333fs)
|
|
|
NM_002633.3(PGM1):c.973C>A (p.Gln325Lys)
|
|
|
NM_002633.3(PGM1):c.97G>C (p.Ala33Pro)
|
|
|
NM_002633.3(PGM1):c.980G>T (p.Gly327Val)
|
|
|
NM_002633.3(PGM1):c.981G>A (p.Gly327=)
|
|
|
NM_003859.3(DPM1):c.*117A>G
|
rs920558366
|
|
NM_003859.3(DPM1):c.109C>T (p.Arg37Cys)
|
rs369939483
|
|
NM_003859.3(DPM1):c.10T>C (p.Leu4=)
|
|
|
NM_003859.3(DPM1):c.112G>A (p.Glu38Lys)
|
rs767978019
|
|
NM_003859.3(DPM1):c.117C>T (p.Asn39=)
|
rs1488509110
|
|
NM_003859.3(DPM1):c.122C>G (p.Pro41Arg)
|
rs2123155224
|
|
NM_003859.3(DPM1):c.123G>A (p.Pro41=)
|
|
|
NM_003859.3(DPM1):c.123G>T (p.Pro41=)
|
rs762396281
|
|
NM_003859.3(DPM1):c.127A>G (p.Ile43Val)
|
rs769480044
|
|
NM_003859.3(DPM1):c.13G>C (p.Glu5Gln)
|
|
|
NM_003859.3(DPM1):c.142G>A (p.Val48Met)
|
rs776470942
|
|
NM_003859.3(DPM1):c.152_154del (p.Phe51del)
|
|
|
NM_003859.3(DPM1):c.161+10C>T
|
rs779869066
|
|
NM_003859.3(DPM1):c.161+16_161+21del
|
rs2123154859
|
|
NM_003859.3(DPM1):c.161+20_161+22del
|
|
|
NM_003859.3(DPM1):c.162-3del
|
rs1568774485
|
|
NM_003859.3(DPM1):c.16G>A (p.Val6Ile)
|
|
|
NM_003859.3(DPM1):c.173A>G (p.Tyr58Cys)
|
rs1040795570
|
|
NM_003859.3(DPM1):c.173A>T (p.Tyr58Phe)
|
rs1040795570
|
|
NM_003859.3(DPM1):c.173_174del (p.Asn57_Tyr58insTer)
|
rs1350257432
|
|
NM_003859.3(DPM1):c.178A>T (p.Ile60Phe)
|
rs1986768557
|
|
NM_003859.3(DPM1):c.182T>C (p.Ile61Thr)
|
|
|
NM_003859.3(DPM1):c.182del (p.Ile61fs)
|
|
|
NM_003859.3(DPM1):c.18C>A (p.Val6=)
|
|
|
NM_003859.3(DPM1):c.18C>G (p.Val6=)
|
rs141104808
|
|
NM_003859.3(DPM1):c.18C>T (p.Val6=)
|
|
|
NM_003859.3(DPM1):c.1A>G (p.Met1Val)
|
rs139624629
|
|
NM_003859.3(DPM1):c.22C>A (p.Arg8Ser)
|
|
|
NM_003859.3(DPM1):c.22C>G (p.Arg8Gly)
|
rs201392536
|
|
NM_003859.3(DPM1):c.232T>C (p.Leu78=)
|
rs1986765330
|
|
NM_003859.3(DPM1):c.235G>C (p.Glu79Gln)
|
rs760351795
|
|
NM_003859.3(DPM1):c.254A>G (p.Asp85Gly)
|
rs1364834319
|
|
NM_003859.3(DPM1):c.259A>G (p.Ile87Val)
|
rs1986763754
|
|
NM_003859.3(DPM1):c.25A>G (p.Ser9Gly)
|
rs17850343
|
|
NM_003859.3(DPM1):c.262-19C>A
|
|
|
NM_003859.3(DPM1):c.262-19C>T
|
|
|
NM_003859.3(DPM1):c.262-9T>C
|
rs759423847
|
|
NM_003859.3(DPM1):c.267A>G (p.Leu89=)
|
|
|
NM_003859.3(DPM1):c.273A>G (p.Pro91=)
|
rs766462970
|
|
NM_003859.3(DPM1):c.274C>G (p.Arg92Gly)
|
rs121908583
|
|
NM_003859.3(DPM1):c.28C>A (p.Pro10Thr)
|
|
|
NM_003859.3(DPM1):c.295+6T>C
|
|
|
NM_003859.3(DPM1):c.295+8G>C
|
rs758553918
|
|
NM_003859.3(DPM1):c.296-14A>C
|
|
|
NM_003859.3(DPM1):c.296-5T>C
|
rs1986258168
|
|
NM_003859.3(DPM1):c.296-9C>A
|
rs1986258505
|
|
NM_003859.3(DPM1):c.296-9C>G
|
rs1986258505
|
|
NM_003859.3(DPM1):c.29C>G (p.Pro10Arg)
|
rs755912457
|
|
NM_003859.3(DPM1):c.303A>G (p.Ala101=)
|
rs139211110
|
|
NM_003859.3(DPM1):c.303A>T (p.Ala101=)
|
|
|
NM_003859.3(DPM1):c.30T>C (p.Pro10=)
|
|
|
NM_003859.3(DPM1):c.326C>T (p.Ala109Val)
|
rs1986256273
|
|
NM_003859.3(DPM1):c.331_343del (p.Gly111fs)
|
rs1272097668
|
|
NM_003859.3(DPM1):c.337T>A (p.Tyr113Asn)
|
rs2123115865
|
|
NM_003859.3(DPM1):c.339CAT[1] (p.Ile116del)
|
|
|
NM_003859.3(DPM1):c.345T>C (p.Ile115=)
|
|
|
NM_003859.3(DPM1):c.355G>A (p.Ala119Thr)
|
rs2123115788
|
|
NM_003859.3(DPM1):c.358G>C (p.Asp120His)
|
|
|
NM_003859.3(DPM1):c.35G>A (p.Arg12Lys)
|
rs559291357
|
|
NM_003859.3(DPM1):c.368A>G (p.His123Arg)
|
|
|
NM_003859.3(DPM1):c.371A>G (p.His124Arg)
|
rs2123115725
|
|
NM_003859.3(DPM1):c.372+12G>A
|
|
|
NM_003859.3(DPM1):c.373-5T>A
|
rs587777115
|
|
NM_003859.3(DPM1):c.382A>G (p.Ile128Val)
|
|
|
NM_003859.3(DPM1):c.384T>C (p.Ile128=)
|
rs1555822595
|
|
NM_003859.3(DPM1):c.385C>T (p.Pro129Ser)
|
rs752831768
|
|
NM_003859.3(DPM1):c.38C>G (p.Ser13Cys)
|
|
|
NM_003859.3(DPM1):c.397A>C (p.Arg133=)
|
|
|
NM_003859.3(DPM1):c.398+20T>C
|
|
|
NM_003859.3(DPM1):c.399-13A>T
|
|
|
NM_003859.3(DPM1):c.406A>G (p.Lys136Glu)
|
|
|
NM_003859.3(DPM1):c.409G>A (p.Glu137Lys)
|
|
|
NM_003859.3(DPM1):c.409G>T (p.Glu137Ter)
|
rs753780084
|
|
NM_003859.3(DPM1):c.414T>C (p.Gly138=)
|
rs2123098264
|
|
NM_003859.3(DPM1):c.429C>T (p.Val143=)
|
|
|
NM_003859.3(DPM1):c.42G>T (p.Arg14=)
|
rs2123155781
|
|
NM_003859.3(DPM1):c.439C>T (p.Arg147Cys)
|
rs1225648834
|
|
NM_003859.3(DPM1):c.440G>A (p.Arg147His)
|
|
|
NM_003859.3(DPM1):c.448G>A (p.Gly150Arg)
|
|
|
NM_003859.3(DPM1):c.459T>C (p.Gly153=)
|
rs1985885337
|
|
NM_003859.3(DPM1):c.459T>G (p.Gly153=)
|
|
|
NM_003859.3(DPM1):c.460G>A (p.Val154Ile)
|
|
|
NM_003859.3(DPM1):c.46G>A (p.Glu16Lys)
|
|
|
NM_003859.3(DPM1):c.473A>C (p.Asp158Ala)
|
rs77532041
|
|
NM_003859.3(DPM1):c.477G>T (p.Leu159Phe)
|
|
|
NM_003859.3(DPM1):c.490_493del (p.Ile164fs)
|
rs781115721
|
|
NM_003859.3(DPM1):c.494+16dup
|
|
|
NM_003859.3(DPM1):c.494+7A>G
|
rs1441485408
|
|
NM_003859.3(DPM1):c.494+9A>C
|
rs774832271
|
|
NM_003859.3(DPM1):c.494+9A>G
|
|
|
NM_003859.3(DPM1):c.495-15T>G
|
|
|
NM_003859.3(DPM1):c.495-18G>C
|
|
|
NM_003859.3(DPM1):c.495-1G>T
|
|
|
NM_003859.3(DPM1):c.496C>T (p.Arg166Cys)
|
rs547949792
|
|
NM_003859.3(DPM1):c.515C>G (p.Thr172Ser)
|
rs1985671191
|
|
NM_003859.3(DPM1):c.521T>G (p.Ile174Ser)
|
|
|
NM_003859.3(DPM1):c.527_533del (p.Leu176fs)
|
|
|
NM_003859.3(DPM1):c.52del (p.Glu18fs)
|
rs759278634
|
|
NM_003859.3(DPM1):c.552A>C (p.Thr184=)
|
rs1985668924
|
|
NM_003859.3(DPM1):c.564-24AT[3]
|
rs759107587
|
|
NM_003859.3(DPM1):c.567A>G (p.Leu189=)
|
rs897083759
|
|
NM_003859.3(DPM1):c.572G>A (p.Arg191Gln)
|
|
|
NM_003859.3(DPM1):c.579A>C (p.Glu193Asp)
|
rs1601016907
|
|
NM_003859.3(DPM1):c.590A>C (p.Lys197Thr)
|
|
|
NM_003859.3(DPM1):c.605G>A (p.Cys202Tyr)
|
rs528582693
|
|
NM_003859.3(DPM1):c.617G>C (p.Gly206Ala)
|
|
|
NM_003859.3(DPM1):c.617G>T (p.Gly206Val)
|
rs760063295
|
|
NM_003859.3(DPM1):c.618C>T (p.Gly206=)
|
|
|
NM_003859.3(DPM1):c.620A>G (p.Tyr207Cys)
|
rs1036628226
|
|
NM_003859.3(DPM1):c.621C>T (p.Tyr207=)
|
rs1373039485
|
|
NM_003859.3(DPM1):c.628del (p.Gln210fs)
|
rs1568757730
|
|
NM_003859.3(DPM1):c.62G>A (p.Ser21Asn)
|
|
|
NM_003859.3(DPM1):c.632T>C (p.Met211Thr)
|
|
|
NM_003859.3(DPM1):c.641T>C (p.Ile214Thr)
|
rs1439856985
|
|
NM_003859.3(DPM1):c.649G>A (p.Ala217Thr)
|
rs1197456861
|
|
NM_003859.3(DPM1):c.656A>G (p.Gln219Arg)
|
rs2123061416
|
|
NM_003859.3(DPM1):c.658T>C (p.Leu220=)
|
rs17855394
|
|
NM_003859.3(DPM1):c.669T>C (p.Thr223=)
|
rs561078570
|
|
NM_003859.3(DPM1):c.671T>A (p.Ile224Asn)
|
rs2123061350
|
|
NM_003859.3(DPM1):c.678+15C>G
|
rs2123061176
|
|
NM_003859.3(DPM1):c.678+18A>C
|
rs2123061147
|
|
NM_003859.3(DPM1):c.678+1G>C
|
rs1985138848
|
|
NM_003859.3(DPM1):c.678+6C>A
|
|
|
NM_003859.3(DPM1):c.678+9C>G
|
rs749718528
|
|
NM_003859.3(DPM1):c.679-12T>G
|
|
|
NM_003859.3(DPM1):c.679-7_679-6insT
|
rs11480415
|
|
NM_003859.3(DPM1):c.679-7_679-6insTT
|
rs11480415
|
|
NM_003859.3(DPM1):c.679-7_679-6insTTT
|
rs11480415
|
|
NM_003859.3(DPM1):c.679-8dup
|
rs11483542
|
|
NM_003859.3(DPM1):c.679-9_679-8dup
|
|
|
NM_003859.3(DPM1):c.67C>A (p.Arg23=)
|
|
|
NM_003859.3(DPM1):c.67C>G (p.Arg23Gly)
|
|
|
NM_003859.3(DPM1):c.684A>C (p.Pro228=)
|
|
|
NM_003859.3(DPM1):c.688T>G (p.Ser230Ala)
|
rs1985042327
|
|
NM_003859.3(DPM1):c.692T>C (p.Phe231Ser)
|
rs2123056867
|
|
NM_003859.3(DPM1):c.698A>G (p.Asp233Gly)
|
rs1411036424
|
|
NM_003859.3(DPM1):c.6C>T (p.Ala2=)
|
|
|
NM_003859.3(DPM1):c.702T>C (p.Arg234=)
|
rs2123056796
|
|
NM_003859.3(DPM1):c.706T>C (p.Tyr236His)
|
rs775589720
|
|
NM_003859.3(DPM1):c.70C>G (p.Gln24Glu)
|
|
|
NM_003859.3(DPM1):c.71A>G (p.Gln24Arg)
|
rs1986960670
|
|
NM_003859.3(DPM1):c.742T>C (p.Ser248Pro)
|
rs587777114
|
|
NM_003859.3(DPM1):c.768T>C (p.Leu256=)
|
|
|
NM_003859.3(DPM1):c.84G>A (p.Ser28=)
|
rs16995639
|
|
NM_003859.3(DPM1):c.87G>C (p.Val29=)
|
|
|
NM_003859.3(DPM1):c.94C>T (p.Pro32Ser)
|
|
|
NM_003859.3(DPM1):c.9C>T (p.Ser3=)
|
rs150509150
|
|
NM_003863.3(DPM2):c.-267T>C
|
rs1831540551
|
|
NM_003863.3(DPM2):c.-319G>A
|
rs886063486
|
|
NM_003863.3(DPM2):c.-84G>A
|
rs1831537719
|
|
NM_003863.4(DPM2):c.*124G>C
|
rs1831491179
|
|
NM_003863.4(DPM2):c.*231C>T
|
rs1831489245
|
|
NM_003863.4(DPM2):c.*404C>T
|
rs1245531633
|
|
NM_003863.4(DPM2):c.*49G>T
|
rs886063481
|
|
NM_003863.4(DPM2):c.*510A>G
|
rs1831485679
|
|
NM_003863.4(DPM2):c.100A>G (p.Ile34Val)
|
|
|
NM_003863.4(DPM2):c.108_111del (p.Gln37fs)
|
rs756881158
|
|
NM_003863.4(DPM2):c.109C>T (p.Gln37Ter)
|
|
|
NM_003863.4(DPM2):c.120C>T (p.Ile40=)
|
rs1588689780
|
|
NM_003863.4(DPM2):c.139C>T (p.Arg47Ter)
|
rs549450795
|
|
NM_003863.4(DPM2):c.151G>A (p.Val51Ile)
|
rs1831509385
|
|
NM_003863.4(DPM2):c.153C>A (p.Val51=)
|
|
|
NM_003863.4(DPM2):c.166_167delinsTT (p.Ala56Phe)
|
rs2131648142
|
|
NM_003863.4(DPM2):c.16G>A (p.Asp6Asn)
|
rs1564141716
|
|
NM_003863.4(DPM2):c.173G>A (p.Gly58Asp)
|
rs1185338798
|
|
NM_003863.4(DPM2):c.178C>T (p.Leu60=)
|
rs2131648105
|
|
NM_003863.4(DPM2):c.180G>A (p.Leu60=)
|
rs2131648100
|
|
NM_003863.4(DPM2):c.196+12C>T
|
|
|
NM_003863.4(DPM2):c.196+13C>T
|
|
|
NM_003863.4(DPM2):c.196+18C>G
|
|
|
NM_003863.4(DPM2):c.196+19C>T
|
rs769003503
|
|
NM_003863.4(DPM2):c.196+20C>T
|
|
|
NM_003863.4(DPM2):c.197G>A (p.Gly66Glu)
|
|
|
NM_003863.4(DPM2):c.208T>C (p.Ser70Pro)
|
rs759597928
|
|
NM_003863.4(DPM2):c.212A>G (p.Tyr71Cys)
|
|
|
NM_003863.4(DPM2):c.212_213delinsGC (p.Tyr71Cys)
|
rs1588689182
|
|
NM_003863.4(DPM2):c.213_214inv (p.Val72Met)
|
|
|
NM_003863.4(DPM2):c.229A>G (p.Lys77Glu)
|
rs1831494309
|
|
NM_003863.4(DPM2):c.237G>A (p.Val79=)
|
|
|
NM_003863.4(DPM2):c.27G>C (p.Val9=)
|
|
|
NM_003863.4(DPM2):c.29del (p.Gly10fs)
|
|
|
NM_003863.4(DPM2):c.3+12A>T
|
|
|
NM_003863.4(DPM2):c.3+14C>T
|
|
|
NM_003863.4(DPM2):c.3+15G>T
|
|
|
NM_003863.4(DPM2):c.3+16T>C
|
|
|
NM_003863.4(DPM2):c.3+3G>A
|
rs1403906360
|
|
NM_003863.4(DPM2):c.3+3G>T
|
rs1403906360
|
|
NM_003863.4(DPM2):c.35G>A (p.Gly12Asp)
|
rs1224529806
|
|
NM_003863.4(DPM2):c.37del (p.Leu13fs)
|
rs1349389319
|
|
NM_003863.4(DPM2):c.39C>T (p.Leu13=)
|
rs757467123
|
|
NM_003863.4(DPM2):c.4-18G>C
|
|
|
NM_003863.4(DPM2):c.4-1G>C
|
rs797044467
|
|
NM_003863.4(DPM2):c.65C>T (p.Thr22Ile)
|
|
|
NM_003863.4(DPM2):c.66C>A (p.Thr22=)
|
rs532790675
|
|
NM_003863.4(DPM2):c.66C>G (p.Thr22=)
|
rs532790675
|
|
NM_003863.4(DPM2):c.68A>G (p.Tyr23Cys)
|
rs397514503
|
|
NM_003863.4(DPM2):c.88C>G (p.Leu30Val)
|
rs886063483
|
|
NM_003863.4(DPM2):c.8C>T (p.Thr3Met)
|
|
|
NM_003863.4(DPM2):c.93+14C>T
|
rs1831525625
|
|
NM_003863.4(DPM2):c.93+17G>A
|
|
|
NM_003863.4(DPM2):c.93+17G>C
|
|
|
NM_003863.4(DPM2):c.93+5G>A
|
|
|
NM_003863.4(DPM2):c.94-11C>T
|
|
|
NM_003863.4(DPM2):c.94-14del
|
rs760202275
|
|
NM_003863.4(DPM2):c.94-18C>G
|
rs577196007
|
|
NM_003863.4(DPM2):c.94-19G>C
|
|
|
NM_003863.4(DPM2):c.94-19G>T
|
|
|
NM_003863.4(DPM2):c.94-4C>T
|
rs1588689814
|
|
NM_004341.5(CAD):c.1100G>A (p.Gly367Asp)
|
rs766915720
|
|
NM_004341.5(CAD):c.1331A>G (p.Gln444Arg)
|
|
|
NM_004341.5(CAD):c.1843-1G>A
|
rs769567624
|
|
NM_004341.5(CAD):c.1843-3C>T
|
rs1057519262
|
|
NM_004341.5(CAD):c.208T>C (p.Phe70Leu)
|
rs1674954573
|
|
NM_004341.5(CAD):c.223-2A>G
|
rs1675149924
|
|
NM_004341.5(CAD):c.2401-5A>G
|
rs759687469
|
|
NM_004341.5(CAD):c.3512C>A (p.Pro1171Gln)
|
rs770280820
|
|
NM_004341.5(CAD):c.3721del (p.Val1241fs)
|
rs2148080342
|
|
NM_004341.5(CAD):c.4231A>G (p.Lys1411Glu)
|
|
|
NM_004341.5(CAD):c.4669C>G (p.Leu1557Val)
|
rs199990394
|
|
NM_004341.5(CAD):c.5104C>T (p.Pro1702Ser)
|
rs529298259
|
|
NM_004341.5(CAD):c.5318C>G (p.Pro1773Arg)
|
|
|
NM_004341.5(CAD):c.5545_5546del (p.Phe1849fs)
|
rs1676249686
|
|
NM_004341.5(CAD):c.571C>T (p.Arg191Ter)
|
rs1572423883
|
|
NM_004341.5(CAD):c.610C>T (p.Pro204Ser)
|
|
|
NM_004341.5(CAD):c.6329G>T (p.Arg2110Leu)
|
rs759380014
|
|
NM_004341.5(CAD):c.6436C>G (p.Arg2146Gly)
|
|
|
NM_004341.5(CAD):c.98T>G (p.Met33Arg)
|
rs751610198
|
|
NM_004870.4(MPDU1):c.*27C>T
|
rs374857107
|
|
NM_004870.4(MPDU1):c.137T>C (p.Leu46Pro)
|
rs1452719895
|
|
NM_004870.4(MPDU1):c.170-1G>A
|
|
|
NM_004870.4(MPDU1):c.189T>G (p.Phe63Leu)
|
rs750579485
|
|
NM_004870.4(MPDU1):c.303-9A>G
|
rs763924892
|
|
NM_004870.4(MPDU1):c.310G>A (p.Gly104Ser)
|
rs1555570093
|
|
NM_004870.4(MPDU1):c.337A>T (p.Thr113Ser)
|
|
|
NM_004870.4(MPDU1):c.356T>C (p.Leu119Pro)
|
rs104894587
|
|
NM_004870.4(MPDU1):c.377A>C (p.Gln126Pro)
|
rs1555570110
|
|
NM_004870.4(MPDU1):c.403G>A (p.Ala135Thr)
|
rs137983973
|
|
NM_004870.4(MPDU1):c.403G>C (p.Ala135Pro)
|
rs137983973
|
|
NM_004870.4(MPDU1):c.410A>G (p.Tyr137Cys)
|
|
|
NM_004870.4(MPDU1):c.468G>A (p.Leu156=)
|
|
|
NM_004870.4(MPDU1):c.477del (p.Ser160fs)
|
rs765585873
|
|
NM_004870.4(MPDU1):c.508-9C>T
|
rs867359652
|
|
NM_004870.4(MPDU1):c.53T>C (p.Leu18Ser)
|
rs2071537142
|
|
NM_004870.4(MPDU1):c.573C>A (p.Phe191Leu)
|
rs2071599921
|
|
NM_004870.4(MPDU1):c.582T>C (p.Phe194=)
|
rs763418089
|
|
NM_004870.4(MPDU1):c.589T>C (p.Ser197Pro)
|
|
|
NM_004870.4(MPDU1):c.591C>G (p.Ser197=)
|
rs2150936245
|
|
NM_004870.4(MPDU1):c.619-17C>G
|
|
|
NM_004870.4(MPDU1):c.631C>G (p.Pro211Ala)
|
rs2150936424
|
|
NM_004870.4(MPDU1):c.66C>G (p.Cys22Trp)
|
rs1388629959
|
|
NM_004870.4(MPDU1):c.69del (p.Cys22_Tyr23insTer)
|
rs2150933483
|
|
NM_004870.4(MPDU1):c.729G>C (p.Gln243His)
|
rs144333176
|
|
NM_004870.4(MPDU1):c.740A>T (p.Gln247Leu)
|
|
|
NM_005216.4(DDOST):c.206_211delACCGGG
|
rs769669810
|
|
NM_005216.4(DDOST):c.20C>G (p.Ala7Gly)
|
rs1391192747
|
|
NM_005216.4(DDOST):c.32C>G (p.Ser11Cys)
|
rs140102515
|
|
NM_005216.4(DDOST):c.32C>T (p.Ser11Phe)
|
rs140102515
|
|
NM_005216.5(DDOST):c.*40A>G
|
rs6893
|
|
NM_005216.5(DDOST):c.-18T>G
|
rs1196325942
|
|
NM_005216.5(DDOST):c.-5G>A
|
|
|
NM_005216.5(DDOST):c.1028T>C (p.Ile343Thr)
|
|
|
NM_005216.5(DDOST):c.1053GAA[2] (p.Lys354del)
|
rs776647294
|
|
NM_005216.5(DDOST):c.1063+19C>T
|
|
|
NM_005216.5(DDOST):c.1063+20G>A
|
|
|
NM_005216.5(DDOST):c.1063+34dup
|
rs11428148
|
|
NM_005216.5(DDOST):c.1064-2A>C
|
|
|
NM_005216.5(DDOST):c.1064-5C>T
|
|
|
NM_005216.5(DDOST):c.111C>T (p.Leu37=)
|
rs2154534463
|
|
NM_005216.5(DDOST):c.1151A>G (p.His384Arg)
|
|
|
NM_005216.5(DDOST):c.1158C>T (p.Tyr386=)
|
|
|
NM_005216.5(DDOST):c.1171-7_1171-5del
|
|
|
NM_005216.5(DDOST):c.1171-9C>G
|
|
|
NM_005216.5(DDOST):c.1177G>A (p.Val393Met)
|
|
|
NM_005216.5(DDOST):c.1210T>C (p.Phe404Leu)
|
|
|
NM_005216.5(DDOST):c.1214_1235del (p.Ile405fs)
|
rs587776874
|
|
NM_005216.5(DDOST):c.1218C>T (p.Pro406=)
|
|
|
NM_005216.5(DDOST):c.1220C>T (p.Ser407Leu)
|
|
|
NM_005216.5(DDOST):c.1226A>G (p.Tyr409Cys)
|
|
|
NM_005216.5(DDOST):c.1243G>A (p.Ala415Thr)
|
|
|
NM_005216.5(DDOST):c.1263G>C (p.Gly421=)
|
|
|
NM_005216.5(DDOST):c.1274T>A (p.Phe425Tyr)
|
rs374032054
|
|
NM_005216.5(DDOST):c.1284CTT[1] (p.Phe429del)
|
|
|
NM_005216.5(DDOST):c.1287C>A (p.Phe429Leu)
|
|
|
NM_005216.5(DDOST):c.132G>T (p.Ser44=)
|
|
|
NM_005216.5(DDOST):c.154+14C>T
|
|
|
NM_005216.5(DDOST):c.154+5G>A
|
|
|
NM_005216.5(DDOST):c.154+7G>C
|
|
|
NM_005216.5(DDOST):c.167A>G (p.Glu56Gly)
|
rs2154534449
|
|
NM_005216.5(DDOST):c.173C>T (p.Thr58Ile)
|
|
|
NM_005216.5(DDOST):c.225C>T (p.Phe75=)
|
rs1408934262
|
|
NM_005216.5(DDOST):c.237T>A (p.Asn79Lys)
|
|
|
NM_005216.5(DDOST):c.24G>A (p.Arg8=)
|
|
|
NM_005216.5(DDOST):c.254C>T (p.Pro85Leu)
|
|
|
NM_005216.5(DDOST):c.278A>G (p.Asn93Ser)
|
|
|
NM_005216.5(DDOST):c.280A>T (p.Ile94Phe)
|
|
|
NM_005216.5(DDOST):c.287T>C (p.Val96Ala)
|
|
|
NM_005216.5(DDOST):c.308T>C (p.Ile103Thr)
|
|
|
NM_005216.5(DDOST):c.312C>T (p.Asp104=)
|
|
|
NM_005216.5(DDOST):c.331G>A (p.Val111Ile)
|
|
|
NM_005216.5(DDOST):c.352+2T>C
|
|
|
NM_005216.5(DDOST):c.382T>G (p.Cys128Gly)
|
|
|
NM_005216.5(DDOST):c.419T>C (p.Ile140Thr)
|
|
|
NM_005216.5(DDOST):c.427C>G (p.His143Asp)
|
rs2154534284
|
|
NM_005216.5(DDOST):c.456+4A>G
|
|
|
NM_005216.5(DDOST):c.457-9T>G
|
|
|
NM_005216.5(DDOST):c.462G>A (p.Thr154=)
|
|
|
NM_005216.5(DDOST):c.532A>G (p.Ile178Val)
|
|
|
NM_005216.5(DDOST):c.534C>T (p.Ile178=)
|
|
|
NM_005216.5(DDOST):c.540T>C (p.Phe180=)
|
rs2154534275
|
|
NM_005216.5(DDOST):c.551+11G>A
|
rs369573026
|
|
NM_005216.5(DDOST):c.551+17G>A
|
|
|
NM_005216.5(DDOST):c.552-12G>A
|
|
|
NM_005216.5(DDOST):c.579G>A (p.Leu193=)
|
|
|
NM_005216.5(DDOST):c.583C>G (p.Leu195Val)
|
|
|
NM_005216.5(DDOST):c.599G>A (p.Gly200Asp)
|
rs387906831
|
|
NM_005216.5(DDOST):c.618C>A (p.Ser206=)
|
|
|
NM_005216.5(DDOST):c.626C>T (p.Pro209Leu)
|
|
|
NM_005216.5(DDOST):c.632A>T (p.Lys211Met)
|
|
|
NM_005216.5(DDOST):c.635C>T (p.Pro212Leu)
|
|
|
NM_005216.5(DDOST):c.63C>T (p.Gly21=)
|
|
|
NM_005216.5(DDOST):c.645+19T>C
|
|
|
NM_005216.5(DDOST):c.656C>T (p.Ala219Val)
|
|
|
NM_005216.5(DDOST):c.687_688delinsAA (p.Leu230Ile)
|
|
|
NM_005216.5(DDOST):c.68T>G (p.Val23Gly)
|
|
|
NM_005216.5(DDOST):c.694G>T (p.Ala232Ser)
|
|
|
NM_005216.5(DDOST):c.6G>T (p.Glu2Asp)
|
|
|
NM_005216.5(DDOST):c.728C>T (p.Ser243Phe)
|
rs2053339801
|
|
NM_005216.5(DDOST):c.732C>A (p.Leu244=)
|
rs149114970
|
|
NM_005216.5(DDOST):c.751TTC[1] (p.Phe252del)
|
rs751872569
|
|
NM_005216.5(DDOST):c.753C>T (p.Phe251=)
|
|
|
NM_005216.5(DDOST):c.782C>T (p.Pro261Leu)
|
rs2154534235
|
|
NM_005216.5(DDOST):c.794+10A>G
|
|
|
NM_005216.5(DDOST):c.794+10A>T
|
|
|
NM_005216.5(DDOST):c.795-3C>G
|
|
|
NM_005216.5(DDOST):c.795G>A (p.Arg265=)
|
|
|
NM_005216.5(DDOST):c.826G>A (p.Val276Met)
|
|
|
NM_005216.5(DDOST):c.82C>T (p.Pro28Ser)
|
|
|
NM_005216.5(DDOST):c.838C>T (p.Arg280Cys)
|
|
|
NM_005216.5(DDOST):c.839G>A (p.Arg280His)
|
|
|
NM_005216.5(DDOST):c.83C>T (p.Pro28Leu)
|
|
|
NM_005216.5(DDOST):c.846del (p.Phe283fs)
|
|
|
NM_005216.5(DDOST):c.851AGG[2] (p.Glu286del)
|
rs1557571295
|
|
NM_005216.5(DDOST):c.868C>T (p.Arg290Cys)
|
|
|
NM_005216.5(DDOST):c.869G>T (p.Arg290Leu)
|
rs367807479
|
|
NM_005216.5(DDOST):c.884C>T (p.Ser295Phe)
|
|
|
NM_005216.5(DDOST):c.897G>A (p.Val299=)
|
|
|
NM_005216.5(DDOST):c.900C>T (p.Gly300=)
|
|
|
NM_005216.5(DDOST):c.908C>T (p.Ala303Val)
|
|
|
NM_005216.5(DDOST):c.942+13dup
|
|
|
NM_005216.5(DDOST):c.942+15G>C
|
|
|
NM_005787.6(ALG3):c.*108T>C
|
rs1577100095
|
|
NM_005787.6(ALG3):c.1009+14T>G
|
|
|
NM_005787.6(ALG3):c.1014C>A (p.Ile338=)
|
|
|
NM_005787.6(ALG3):c.1014C>T (p.Ile338=)
|
|
|
NM_005787.6(ALG3):c.101T>C (p.Leu34Pro)
|
|
|
NM_005787.6(ALG3):c.1037A>G (p.Asn346Ser)
|
rs1560162116
|
|
NM_005787.6(ALG3):c.1060C>T (p.Arg354Cys)
|
|
|
NM_005787.6(ALG3):c.1077G>A (p.Gln359=)
|
rs534288406
|
|
NM_005787.6(ALG3):c.1083C>T (p.Tyr361=)
|
|
|
NM_005787.6(ALG3):c.1132C>T (p.Arg378Cys)
|
|
|
NM_005787.6(ALG3):c.1146C>T (p.His382=)
|
rs370304622
|
|
NM_005787.6(ALG3):c.1156T>C (p.Leu386=)
|
rs761215928
|
|
NM_005787.6(ALG3):c.1170G>T (p.Gly390=)
|
rs758528909
|
|
NM_005787.6(ALG3):c.1188G>A (p.Trp396Ter)
|
|
|
NM_005787.6(ALG3):c.1188dup (p.Asn397fs)
|
|
|
NM_005787.6(ALG3):c.11G>T (p.Gly4Val)
|
|
|
NM_005787.6(ALG3):c.1212C>G (p.Cys404Trp)
|
|
|
NM_005787.6(ALG3):c.1242C>T (p.Ala414=)
|
|
|
NM_005787.6(ALG3):c.1254G>A (p.Leu418=)
|
|
|
NM_005787.6(ALG3):c.1263G>A (p.Trp421Ter)
|
rs1560161567
|
|
NM_005787.6(ALG3):c.163_196+3del
|
rs1560166870
|
|
NM_005787.6(ALG3):c.16C>T (p.Arg6Trp)
|
rs199587005
|
|
NM_005787.6(ALG3):c.18G>A (p.Arg6=)
|
rs1239564678
|
|
NM_005787.6(ALG3):c.196+16G>A
|
|
|
NM_005787.6(ALG3):c.196+19del
|
rs1260750286
|
|
NM_005787.6(ALG3):c.211T>C (p.Trp71Arg)
|
rs119103237
|
|
NM_005787.6(ALG3):c.221A>G (p.Tyr74Cys)
|
rs1028791709
|
|
NM_005787.6(ALG3):c.296+13A>C
|
rs2108442309
|
|
NM_005787.6(ALG3):c.296+20T>C
|
|
|
NM_005787.6(ALG3):c.296+4A>G
|
rs1560164682
|
|
NM_005787.6(ALG3):c.296+5G>A
|
rs1719108178
|
|
NM_005787.6(ALG3):c.297-11T>C
|
|
|
NM_005787.6(ALG3):c.297-19A>G
|
|
|
NM_005787.6(ALG3):c.29_45dup (p.Gln16fs)
|
|
|
NM_005787.6(ALG3):c.2T>C (p.Met1Thr)
|
rs773271124
|
|
NM_005787.6(ALG3):c.304G>T (p.Ala102Ser)
|
rs1719101179
|
|
NM_005787.6(ALG3):c.30G>C (p.Arg10=)
|
|
|
NM_005787.6(ALG3):c.321C>T (p.Ile107=)
|
rs1436563177
|
|
NM_005787.6(ALG3):c.33C>A (p.Ser11=)
|
|
|
NM_005787.6(ALG3):c.347G>C (p.Ser116Thr)
|
|
|
NM_005787.6(ALG3):c.347G>T (p.Ser116Ile)
|
rs562487441
|
|
NM_005787.6(ALG3):c.34G>C (p.Gly12Arg)
|
|
|
NM_005787.6(ALG3):c.353G>A (p.Gly118Asp)
|
rs28940588
|
|
NM_005787.6(ALG3):c.364C>T (p.Arg122Cys)
|
|
|
NM_005787.6(ALG3):c.410_411insTGTCTTCTTGCT (p.Leu137_Leu138insValPheLeuLeu)
|
rs2108442073
|
|
NM_005787.6(ALG3):c.444+2T>G
|
rs1719083745
|
|
NM_005787.6(ALG3):c.445-17C>T
|
|
|
NM_005787.6(ALG3):c.445-19T>C
|
|
|
NM_005787.6(ALG3):c.456C>T (p.Phe152=)
|
|
|
NM_005787.6(ALG3):c.457G>A (p.Val153Ile)
|
|
|
NM_005787.6(ALG3):c.470T>A (p.Met157Lys)
|
rs119103238
|
|
NM_005787.6(ALG3):c.487C>T (p.Arg163Cys)
|
|
|
NM_005787.6(ALG3):c.503T>C (p.Phe168Ser)
|
|
|
NM_005787.6(ALG3):c.50C>T (p.Ala17Val)
|
|
|
NM_005787.6(ALG3):c.53A>G (p.Glu18Gly)
|
|
|
NM_005787.6(ALG3):c.544C>T (p.Leu182Phe)
|
rs1719066241
|
|
NM_005787.6(ALG3):c.545T>C (p.Leu182Pro)
|
rs747561539
|
|
NM_005787.6(ALG3):c.550C>T (p.Leu184Phe)
|
rs1171334770
|
|
NM_005787.6(ALG3):c.579C>T (p.Arg193=)
|
|
|
NM_005787.6(ALG3):c.58C>T (p.Leu20Phe)
|
|
|
NM_005787.6(ALG3):c.606-18C>T
|
|
|
NM_005787.6(ALG3):c.61T>G (p.Cys21Gly)
|
|
|
NM_005787.6(ALG3):c.626T>C (p.Met209Thr)
|
rs1553828467
|
|
NM_005787.6(ALG3):c.62G>T (p.Cys21Phe)
|
|
|
NM_005787.6(ALG3):c.633G>A (p.Val211=)
|
rs2108441361
|
|
NM_005787.6(ALG3):c.639C>A (p.Leu213=)
|
|
|
NM_005787.6(ALG3):c.685C>T (p.Arg229Cys)
|
|
|
NM_005787.6(ALG3):c.717T>G (p.Ala239=)
|
|
|
NM_005787.6(ALG3):c.749T>A (p.Leu250Gln)
|
rs2108440795
|
|
NM_005787.6(ALG3):c.752T>C (p.Leu251Pro)
|
rs1085307980
|
|
NM_005787.6(ALG3):c.763A>C (p.Ser255Arg)
|
rs1718985510
|
|
NM_005787.6(ALG3):c.796C>T (p.Arg266Cys)
|
rs747953768
|
|
NM_005787.6(ALG3):c.799C>A (p.Gln267Lys)
|
rs528154210
|
|
NM_005787.6(ALG3):c.79C>G (p.Arg27Gly)
|
|
|
NM_005787.6(ALG3):c.812A>G (p.His271Arg)
|
rs2108440706
|
|
NM_005787.6(ALG3):c.82G>C (p.Ala28Pro)
|
rs750342592
|
|
NM_005787.6(ALG3):c.846G>A (p.Ala282=)
|
rs370912574
|
|
NM_005787.6(ALG3):c.888C>T (p.Ala296=)
|
|
|
NM_005787.6(ALG3):c.890A>G (p.His297Arg)
|
|
|
NM_005787.6(ALG3):c.918C>T (p.Leu306=)
|
|
|
NM_005787.6(ALG3):c.929A>G (p.His310Arg)
|
rs2108440580
|
|
NM_005787.6(ALG3):c.932+10G>A
|
|
|
NM_005787.6(ALG3):c.933-20_933-17del
|
|
|
NM_005787.6(ALG3):c.944G>A (p.Ser315Asn)
|
|
|
NM_005787.6(ALG3):c.945T>C (p.Ser315=)
|
|
|
NM_005787.6(ALG3):c.985C>G (p.Pro329Ala)
|
rs751758378
|
|
NM_005787.6(ALG3):c.985C>T (p.Pro329Ser)
|
rs751758378
|
|
NM_005787.6(ALG3):c.991C>T (p.Gln331Ter)
|
rs1553827968
|
|
NM_006280.3(SSR4):c.141dup (p.Val48fs)
|
rs2092142348
|
|
NM_006280.3(SSR4):c.187-301_352-15del
|
rs1557072752
|
|
NM_006280.3(SSR4):c.235C>T (p.Arg79Ter)
|
|
|
NM_006280.3(SSR4):c.241C>T (p.Gln81Ter)
|
rs2092148846
|
|
NM_006280.3(SSR4):c.261+2_261+8del
|
rs2148450759
|
|
NM_006280.3(SSR4):c.269G>A (p.Trp90Ter)
|
rs2148450972
|
|
NM_006280.3(SSR4):c.270G>A (p.Trp90Ter)
|
|
|
NM_006280.3(SSR4):c.317del (p.Phe106fs)
|
rs606231298
|
|
NM_006280.3(SSR4):c.358_359del (p.Arg120fs)
|
rs794729223
|
|
NM_006280.3(SSR4):c.417+1G>A
|
rs1057518735
|
|
NM_006280.3(SSR4):c.418-1G>A
|
rs1057518736
|
|
NM_006280.3(SSR4):c.418-2A>G
|
rs880003306
|
|
NM_006280.3(SSR4):c.429C>A (p.Asn143Lys)
|
|
|
NM_006280.3(SSR4):c.482A>G (p.Tyr161Cys)
|
|
|
NM_007347.5(AP4E1):c.3313C>T (p.Arg1105Ter)
|
rs1313275799
|
|
NM_012463.4(ATP6V0A2):c.1007A>G (p.Gln336Arg)
|
|
|
NM_012463.4(ATP6V0A2):c.1019G>A (p.Arg340Gln)
|
|
|
NM_012463.4(ATP6V0A2):c.1022C>A (p.Ala341Glu)
|
rs1956564188
|
|
NM_012463.4(ATP6V0A2):c.102G>T (p.Leu34=)
|
|
|
NM_012463.4(ATP6V0A2):c.1038+20_1038+22del
|
|
|
NM_012463.4(ATP6V0A2):c.1038G>T (p.Ser346=)
|
rs147411055
|
|
NM_012463.4(ATP6V0A2):c.1039-13G>A
|
rs375793162
|
|
NM_012463.4(ATP6V0A2):c.1039-15T>C
|
|
|
NM_012463.4(ATP6V0A2):c.1039-1G>A
|
|
|
NM_012463.4(ATP6V0A2):c.1062dup (p.Ser355fs)
|
rs958086368
|
|
NM_012463.4(ATP6V0A2):c.1065A>G (p.Ser355=)
|
rs1593910063
|
|
NM_012463.4(ATP6V0A2):c.1070T>C (p.Met357Thr)
|
|
|
NM_012463.4(ATP6V0A2):c.1079T>C (p.Ile360Thr)
|
rs753742915
|
|
NM_012463.4(ATP6V0A2):c.1081C>A (p.Pro361Thr)
|
|
|
NM_012463.4(ATP6V0A2):c.1094C>T (p.Thr365Ile)
|
rs779001204
|
|
NM_012463.4(ATP6V0A2):c.1098C>A (p.Pro366=)
|
|
|
NM_012463.4(ATP6V0A2):c.1128C>G (p.Thr376=)
|
|
|
NM_012463.4(ATP6V0A2):c.1157A>G (p.Tyr386Cys)
|
|
|
NM_012463.4(ATP6V0A2):c.117+10G>A
|
|
|
NM_012463.4(ATP6V0A2):c.117+13C>T
|
|
|
NM_012463.4(ATP6V0A2):c.117+18_117+19del
|
rs772260989
|
|
NM_012463.4(ATP6V0A2):c.117+19A>G
|
|
|
NM_012463.4(ATP6V0A2):c.117+1del
|
|
|
NM_012463.4(ATP6V0A2):c.117+20C>G
|
|
|
NM_012463.4(ATP6V0A2):c.117+20_117+21insT
|
|
|
NM_012463.4(ATP6V0A2):c.117+7G>A
|
|
|
NM_012463.4(ATP6V0A2):c.117+9C>A
|
|
|
NM_012463.4(ATP6V0A2):c.118-13A>G
|
|
|
NM_012463.4(ATP6V0A2):c.118-1G>T
|
rs2135879573
|
|
NM_012463.4(ATP6V0A2):c.118-4T>C
|
|
|
NM_012463.4(ATP6V0A2):c.118-6del
|
|
|
NM_012463.4(ATP6V0A2):c.118-9T>G
|
|
|
NM_012463.4(ATP6V0A2):c.1189G>C (p.Ala397Pro)
|
|
|
NM_012463.4(ATP6V0A2):c.1190-7dup
|
|
|
NM_012463.4(ATP6V0A2):c.1215G>A (p.Pro405=)
|
rs1171365721
|
|
NM_012463.4(ATP6V0A2):c.1223T>C (p.Phe408Ser)
|
|
|
NM_012463.4(ATP6V0A2):c.1231A>C (p.Met411Leu)
|
|
|
NM_012463.4(ATP6V0A2):c.1245C>T (p.Phe415=)
|
|
|
NM_012463.4(ATP6V0A2):c.1248A>C (p.Gly416=)
|
|
|
NM_012463.4(ATP6V0A2):c.1291A>G (p.Asn431Asp)
|
|
|
NM_012463.4(ATP6V0A2):c.1309C>A (p.Leu437Ile)
|
|
|
NM_012463.4(ATP6V0A2):c.1311A>G (p.Leu437=)
|
|
|
NM_012463.4(ATP6V0A2):c.1326+7A>C
|
|
|
NM_012463.4(ATP6V0A2):c.1326+7_1326+15dup
|
rs1593910803
|
|
NM_012463.4(ATP6V0A2):c.1353G>A (p.Arg451=)
|
|
|
NM_012463.4(ATP6V0A2):c.1357A>G (p.Ile453Val)
|
rs911881776
|
|
NM_012463.4(ATP6V0A2):c.1362C>T (p.Leu454=)
|
|
|
NM_012463.4(ATP6V0A2):c.1370T>C (p.Met457Thr)
|
|
|
NM_012463.4(ATP6V0A2):c.1391C>G (p.Thr464Ser)
|
|
|
NM_012463.4(ATP6V0A2):c.1399A>G (p.Ile467Val)
|
rs753076012
|
|
NM_012463.4(ATP6V0A2):c.1407C>T (p.Asn469=)
|
|
|
NM_012463.4(ATP6V0A2):c.1410C>T (p.Asp470=)
|
|
|
NM_012463.4(ATP6V0A2):c.1430A>G (p.Asn477Ser)
|
rs532258057
|
|
NM_012463.4(ATP6V0A2):c.1437C>T (p.Phe479=)
|
|
|
NM_012463.4(ATP6V0A2):c.1455G>A (p.Val485=)
|
|
|
NM_012463.4(ATP6V0A2):c.1473C>T (p.Ser491=)
|
|
|
NM_012463.4(ATP6V0A2):c.1476C>T (p.Ser492=)
|
|
|
NM_012463.4(ATP6V0A2):c.1481C>T (p.Pro494Leu)
|
|
|
NM_012463.4(ATP6V0A2):c.1484C>T (p.Pro495Leu)
|
|
|
NM_012463.4(ATP6V0A2):c.1491G>A (p.Glu497=)
|
|
|
NM_012463.4(ATP6V0A2):c.1496AGA[1] (p.Lys500del)
|
|
|
NM_012463.4(ATP6V0A2):c.1515-7_1515-5del
|
|
|
NM_012463.4(ATP6V0A2):c.1515-9T>C
|
|
|
NM_012463.4(ATP6V0A2):c.1515-9T>G
|
|
|
NM_012463.4(ATP6V0A2):c.1515_1516inv (p.Asp506Asn)
|
|
|
NM_012463.4(ATP6V0A2):c.1558A>G (p.Ser520Gly)
|
|
|
NM_012463.4(ATP6V0A2):c.1604del (p.Pro535fs)
|
|
|
NM_012463.4(ATP6V0A2):c.1605+10C>T
|
|
|
NM_012463.4(ATP6V0A2):c.1605+16T>G
|
rs532950608
|
|
NM_012463.4(ATP6V0A2):c.1605+1G>A
|
rs1956646992
|
|
NM_012463.4(ATP6V0A2):c.1615T>C (p.Leu539=)
|
|
|
NM_012463.4(ATP6V0A2):c.1628G>A (p.Arg543His)
|
|
|
NM_012463.4(ATP6V0A2):c.1639C>T (p.Leu547=)
|
|
|
NM_012463.4(ATP6V0A2):c.1665C>G (p.Ser555=)
|
|
|
NM_012463.4(ATP6V0A2):c.1667T>C (p.Val556Ala)
|
|
|
NM_012463.4(ATP6V0A2):c.1674A>G (p.Leu558=)
|
|
|
NM_012463.4(ATP6V0A2):c.1677A>C (p.Gly559=)
|
|
|
NM_012463.4(ATP6V0A2):c.1692T>G (p.Thr564=)
|
rs2135913544
|
|
NM_012463.4(ATP6V0A2):c.1723T>G (p.Leu575Val)
|
rs2135913589
|
|
NM_012463.4(ATP6V0A2):c.1724+11A>T
|
|
|
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.1725-9C>T
|
|
|
NM_012463.4(ATP6V0A2):c.1755G>C (p.Leu585=)
|
|
|
NM_012463.4(ATP6V0A2):c.1767G>A (p.Pro589=)
|
|
|
NM_012463.4(ATP6V0A2):c.1776C>T (p.Leu592=)
|
|
|
NM_012463.4(ATP6V0A2):c.1780A>G (p.Met594Val)
|
|
|
NM_012463.4(ATP6V0A2):c.17G>A (p.Arg6Gln)
|
rs2135870876
|
|
NM_012463.4(ATP6V0A2):c.1830G>T (p.Leu610=)
|
|
|
NM_012463.4(ATP6V0A2):c.1831_1832delinsA (p.Val611fs)
|
rs1956686080
|
|
NM_012463.4(ATP6V0A2):c.1843G>A (p.Glu615Lys)
|
rs2135914600
|
|
NM_012463.4(ATP6V0A2):c.1848C>T (p.Thr616=)
|
rs776365183
|
|
NM_012463.4(ATP6V0A2):c.1863C>T (p.Pro621=)
|
rs2135914630
|
|
NM_012463.4(ATP6V0A2):c.188G>A (p.Arg63Gln)
|
|
|
NM_012463.4(ATP6V0A2):c.1897T>C (p.Phe633Leu)
|
|
|
NM_012463.4(ATP6V0A2):c.1926C>A (p.Tyr642Ter)
|
|
|
NM_012463.4(ATP6V0A2):c.1926C>T (p.Tyr642=)
|
rs1593915216
|
|
NM_012463.4(ATP6V0A2):c.1932G>A (p.Gly644=)
|
|
|
NM_012463.4(ATP6V0A2):c.1941T>C (p.Tyr647=)
|
|
|
NM_012463.4(ATP6V0A2):c.1945_1946del (p.Gln649fs)
|
|
|
NM_012463.4(ATP6V0A2):c.1948A>G (p.Arg650Gly)
|
|
|
NM_012463.4(ATP6V0A2):c.1953G>A (p.Val651=)
|
|
|
NM_012463.4(ATP6V0A2):c.196+8T>A
|
|
|
NM_012463.4(ATP6V0A2):c.197-14T>A
|
|
|
NM_012463.4(ATP6V0A2):c.197-16A>G
|
|
|
NM_012463.4(ATP6V0A2):c.1988T>A (p.Leu663His)
|
|
|
NM_012463.4(ATP6V0A2):c.1994T>A (p.Leu665Ter)
|
|
|
NM_012463.4(ATP6V0A2):c.1999A>G (p.Lys667Glu)
|
|
|
NM_012463.4(ATP6V0A2):c.19A>G (p.Ser7Gly)
|
|
|
NM_012463.4(ATP6V0A2):c.2015T>A (p.Leu672Ter)
|
|
|
NM_012463.4(ATP6V0A2):c.2015T>C (p.Leu672Ser)
|
|
|
NM_012463.4(ATP6V0A2):c.2034T>C (p.Arg678=)
|
|
|
NM_012463.4(ATP6V0A2):c.2055+18_2055+24dup
|
|
|
NM_012463.4(ATP6V0A2):c.2055+4A>C
|
rs2135917390
|
|
NM_012463.4(ATP6V0A2):c.2055+8C>T
|
|
|
NM_012463.4(ATP6V0A2):c.2055+9G>A
|
|
|
NM_012463.4(ATP6V0A2):c.2056-10T>C
|
|
|
NM_012463.4(ATP6V0A2):c.2056-14C>G
|
rs375232199
|
|
NM_012463.4(ATP6V0A2):c.2056-14C>T
|
|
|
NM_012463.4(ATP6V0A2):c.2056-18_2056-17del
|
|
|
NM_012463.4(ATP6V0A2):c.2056-20T>C
|
|
|
NM_012463.4(ATP6V0A2):c.2056-2A>G
|
|
|
NM_012463.4(ATP6V0A2):c.2057G>A (p.Ser686Asn)
|
|
|
NM_012463.4(ATP6V0A2):c.205G>A (p.Val69Ile)
|
|
|
NM_012463.4(ATP6V0A2):c.2067A>G (p.Thr689=)
|
|
|
NM_012463.4(ATP6V0A2):c.2097T>A (p.Val699=)
|
|
|
NM_012463.4(ATP6V0A2):c.2151A>T (p.Gly717=)
|
|
|
NM_012463.4(ATP6V0A2):c.2193A>G (p.Ile731Met)
|
|
|
NM_012463.4(ATP6V0A2):c.2203C>T (p.Gln735Ter)
|
rs2135920743
|
|
NM_012463.4(ATP6V0A2):c.2206G>A (p.Val736Ile)
|
|
|
NM_012463.4(ATP6V0A2):c.2223G>A (p.Glu741=)
|
|
|
NM_012463.4(ATP6V0A2):c.2230C>T (p.Leu744=)
|
|
|
NM_012463.4(ATP6V0A2):c.2255C>T (p.Ser752Phe)
|
|
|
NM_012463.4(ATP6V0A2):c.2256C>T (p.Ser752=)
|
|
|
NM_012463.4(ATP6V0A2):c.2289C>T (p.His763=)
|
|
|
NM_012463.4(ATP6V0A2):c.2294-12A>G
|
|
|
NM_012463.4(ATP6V0A2):c.2304del (p.Asp768fs)
|
|
|
NM_012463.4(ATP6V0A2):c.2328C>T (p.Arg776=)
|
|
|
NM_012463.4(ATP6V0A2):c.2329G>A (p.Val777Met)
|
|
|
NM_012463.4(ATP6V0A2):c.234C>G (p.Pro78=)
|
|
|
NM_012463.4(ATP6V0A2):c.2370G>C (p.Leu790=)
|
|
|
NM_012463.4(ATP6V0A2):c.2383G>A (p.Ala795Thr)
|
|
|
NM_012463.4(ATP6V0A2):c.2388C>G (p.Leu796=)
|
|
|
NM_012463.4(ATP6V0A2):c.2448C>T (p.His816=)
|
|
|
NM_012463.4(ATP6V0A2):c.2449G>A (p.Ala817Thr)
|
|
|
NM_012463.4(ATP6V0A2):c.2465+20T>C
|
|
|
NM_012463.4(ATP6V0A2):c.2466-10T>G
|
|
|
NM_012463.4(ATP6V0A2):c.2466-16C>G
|
|
|
NM_012463.4(ATP6V0A2):c.2466-16C>T
|
|
|
NM_012463.4(ATP6V0A2):c.2466-17_2466-16insA
|
|
|
NM_012463.4(ATP6V0A2):c.2466-3del
|
|
|
NM_012463.4(ATP6V0A2):c.2466-3dup
|
rs370511382
|
|
NM_012463.4(ATP6V0A2):c.2472A>G (p.Glu824=)
|
|
|
NM_012463.4(ATP6V0A2):c.2490C>T (p.Tyr830=)
|
|
|
NM_012463.4(ATP6V0A2):c.2491G>A (p.Val831Ile)
|
|
|
NM_012463.4(ATP6V0A2):c.2502C>T (p.Gly834=)
|
rs1451115150
|
|
NM_012463.4(ATP6V0A2):c.2509T>C (p.Phe837Leu)
|
|
|
NM_012463.4(ATP6V0A2):c.2531T>G (p.Leu844Arg)
|
|
|
NM_012463.4(ATP6V0A2):c.2541A>G (p.Ser847=)
|
|
|
NM_012463.4(ATP6V0A2):c.2553C>T (p.Asn851=)
|
|
|
NM_012463.4(ATP6V0A2):c.2559C>T (p.Asp853=)
|
rs1032324166
|
|
NM_012463.4(ATP6V0A2):c.264G>A (p.Ala88=)
|
rs139785866
|
|
NM_012463.4(ATP6V0A2):c.264G>C (p.Ala88=)
|
rs139785866
|
|
NM_012463.4(ATP6V0A2):c.264G>T (p.Ala88=)
|
rs139785866
|
|
NM_012463.4(ATP6V0A2):c.294+16C>A
|
|
|
NM_012463.4(ATP6V0A2):c.294+16C>T
|
|
|
NM_012463.4(ATP6V0A2):c.294+17G>A
|
|
|
NM_012463.4(ATP6V0A2):c.294+18A>G
|
|
|
NM_012463.4(ATP6V0A2):c.302T>A (p.Leu101Ter)
|
|
|
NM_012463.4(ATP6V0A2):c.333C>A (p.Val111=)
|
|
|
NM_012463.4(ATP6V0A2):c.333C>T (p.Val111=)
|
|
|
NM_012463.4(ATP6V0A2):c.336T>A (p.Thr112=)
|
|
|
NM_012463.4(ATP6V0A2):c.34C>G (p.Leu12Val)
|
rs1232267114
|
|
NM_012463.4(ATP6V0A2):c.370G>A (p.Glu124Lys)
|
|
|
NM_012463.4(ATP6V0A2):c.373C>A (p.Leu125Met)
|
|
|
NM_012463.4(ATP6V0A2):c.377_378del (p.Ile126fs)
|
|
|
NM_012463.4(ATP6V0A2):c.382T>C (p.Tyr128His)
|
|
|
NM_012463.4(ATP6V0A2):c.390_397dup (p.Arg133delinsThrCysTer)
|
|
|
NM_012463.4(ATP6V0A2):c.406A>C (p.Lys136Gln)
|
|
|
NM_012463.4(ATP6V0A2):c.409A>G (p.Thr137Ala)
|
rs1319344210
|
|
NM_012463.4(ATP6V0A2):c.413T>C (p.Phe138Ser)
|
|
|
NM_012463.4(ATP6V0A2):c.422G>A (p.Arg141His)
|
rs143509747
|
|
NM_012463.4(ATP6V0A2):c.422G>T (p.Arg141Leu)
|
rs143509747
|
|
NM_012463.4(ATP6V0A2):c.426_427inv (p.Val143Ile)
|
|
|
NM_012463.4(ATP6V0A2):c.433-5T>C
|
|
|
NM_012463.4(ATP6V0A2):c.459T>G (p.Pro153=)
|
|
|
NM_012463.4(ATP6V0A2):c.516A>G (p.Lys172=)
|
|
|
NM_012463.4(ATP6V0A2):c.519G>C (p.Leu173=)
|
|
|
NM_012463.4(ATP6V0A2):c.522-13del
|
rs140638516
|
|
NM_012463.4(ATP6V0A2):c.528G>A (p.Val176=)
|
|
|
NM_012463.4(ATP6V0A2):c.557A>G (p.Glu186Gly)
|
|
|
NM_012463.4(ATP6V0A2):c.564T>G (p.Phe188Leu)
|
|
|
NM_012463.4(ATP6V0A2):c.63G>T (p.Thr21=)
|
|
|
NM_012463.4(ATP6V0A2):c.645A>G (p.Glu215=)
|
|
|
NM_012463.4(ATP6V0A2):c.648+13C>T
|
|
|
NM_012463.4(ATP6V0A2):c.649-15A>G
|
|
|
NM_012463.4(ATP6V0A2):c.649-20T>C
|
|
|
NM_012463.4(ATP6V0A2):c.652G>C (p.Glu218Gln)
|
rs759593402
|
|
NM_012463.4(ATP6V0A2):c.666G>A (p.Trp222Ter)
|
|
|
NM_012463.4(ATP6V0A2):c.668A>G (p.Tyr223Cys)
|
|
|
NM_012463.4(ATP6V0A2):c.679A>G (p.Ile227Val)
|
|
|
NM_012463.4(ATP6V0A2):c.705C>T (p.Gly235=)
|
rs767516975
|
|
NM_012463.4(ATP6V0A2):c.721A>C (p.Ile241Leu)
|
|
|
NM_012463.4(ATP6V0A2):c.728A>G (p.Asp243Gly)
|
|
|
NM_012463.4(ATP6V0A2):c.72G>A (p.Glu24=)
|
|
|
NM_012463.4(ATP6V0A2):c.731+12A>G
|
|
|
NM_012463.4(ATP6V0A2):c.731+16A>G
|
|
|
NM_012463.4(ATP6V0A2):c.731+6A>G
|
|
|
NM_012463.4(ATP6V0A2):c.732-2A>G
|
rs80356753
|
|
NM_012463.4(ATP6V0A2):c.744C>T (p.His248=)
|
|
|
NM_012463.4(ATP6V0A2):c.768C>A (p.Ala256=)
|
|
|
NM_012463.4(ATP6V0A2):c.769G>A (p.Glu257Lys)
|
|
|
NM_012463.4(ATP6V0A2):c.78C>G (p.Leu26=)
|
|
|
NM_012463.4(ATP6V0A2):c.805C>T (p.Arg269Cys)
|
|
|
NM_012463.4(ATP6V0A2):c.81C>T (p.Ser27=)
|
|
|
NM_012463.4(ATP6V0A2):c.826-14T>G
|
rs2135901661
|
|
NM_012463.4(ATP6V0A2):c.826-15G>A
|
|
|
NM_012463.4(ATP6V0A2):c.826-18C>G
|
|
|
NM_012463.4(ATP6V0A2):c.826-20C>T
|
|
|
NM_012463.4(ATP6V0A2):c.840C>T (p.Thr280=)
|
rs139680786
|
|
NM_012463.4(ATP6V0A2):c.849T>C (p.Tyr283=)
|
|
|
NM_012463.4(ATP6V0A2):c.851del (p.Tyr283_Leu284insTer)
|
|
|
NM_012463.4(ATP6V0A2):c.856C>G (p.Gln286Glu)
|
rs759906846
|
|
NM_012463.4(ATP6V0A2):c.864A>G (p.Leu288=)
|
|
|
NM_012463.4(ATP6V0A2):c.876C>T (p.Ala292=)
|
|
|
NM_012463.4(ATP6V0A2):c.877G>T (p.Glu293Ter)
|
|
|
NM_012463.4(ATP6V0A2):c.883G>A (p.Val295Ile)
|
rs371533517
|
|
NM_012463.4(ATP6V0A2):c.893G>A (p.Arg298His)
|
|
|
NM_012463.4(ATP6V0A2):c.90C>G (p.Gly30=)
|
|
|
NM_012463.4(ATP6V0A2):c.912A>G (p.Lys304=)
|
rs2135901865
|
|
NM_012463.4(ATP6V0A2):c.939C>T (p.Asn313=)
|
|
|
NM_012463.4(ATP6V0A2):c.962A>G (p.Asn321Ser)
|
|
|
NM_012463.4(ATP6V0A2):c.976G>T (p.Ala326Ser)
|
|
|
NM_012463.4(ATP6V0A2):c.999G>A (p.Ala333=)
|
|
|
NM_013339.4(ALG6):c.*1238A>C
|
rs1644697712
|
|
NM_013339.4(ALG6):c.*454C>T
|
rs903370494
|
|
NM_013339.4(ALG6):c.*89G>A
|
rs531808380
|
|
NM_013339.4(ALG6):c.-208+10T>C
|
rs1333912773
|
|
NM_013339.4(ALG6):c.-221C>G
|
rs886046470
|
|
NM_013339.4(ALG6):c.1000C>T (p.Leu334=)
|
|
|
NM_013339.4(ALG6):c.1000delinsGG (p.Leu334fs)
|
|
|
NM_013339.4(ALG6):c.1005A>C (p.Ser335=)
|
rs146094200
|
|
NM_013339.4(ALG6):c.1005A>T (p.Ser335=)
|
|
|
NM_013339.4(ALG6):c.1006_1007del (p.Phe336fs)
|
rs1644562014
|
|
NM_013339.4(ALG6):c.100A>C (p.Met34Leu)
|
rs1557585842
|
|
NM_013339.4(ALG6):c.100A>G (p.Met34Val)
|
|
|
NM_013339.4(ALG6):c.100_101del (p.Met34fs)
|
|
|
NM_013339.4(ALG6):c.1011T>C (p.Phe337=)
|
rs2100428006
|
|
NM_013339.4(ALG6):c.1013T>A (p.Leu338Ter)
|
|
|
NM_013339.4(ALG6):c.1018del (p.Ser340fs)
|
rs1269984067
|
|
NM_013339.4(ALG6):c.1029dup (p.His344fs)
|
|
|
NM_013339.4(ALG6):c.1031A>G (p.His344Arg)
|
|
|
NM_013339.4(ALG6):c.1033G>C (p.Glu345Gln)
|
|
|
NM_013339.4(ALG6):c.1041C>G (p.Ser347=)
|
|
|
NM_013339.4(ALG6):c.1047C>T (p.Leu349=)
|
rs2100428058
|
|
NM_013339.4(ALG6):c.1048T>C (p.Leu350=)
|
|
|
NM_013339.4(ALG6):c.104T>C (p.Phe35Ser)
|
|
|
NM_013339.4(ALG6):c.1051G>A (p.Val351Met)
|
|
|
NM_013339.4(ALG6):c.1051G>T (p.Val351Leu)
|
|
|
NM_013339.4(ALG6):c.1058+16T>G
|
|
|
NM_013339.4(ALG6):c.1058+16del
|
|
|
NM_013339.4(ALG6):c.1058+19A>C
|
|
|
NM_013339.4(ALG6):c.1058+1G>A
|
|
|
NM_013339.4(ALG6):c.1058+6T>C
|
rs1644562441
|
|
NM_013339.4(ALG6):c.1058+7A>G
|
rs2100428084
|
|
NM_013339.4(ALG6):c.1059-20T>G
|
|
|
NM_013339.4(ALG6):c.1059-4T>G
|
|
|
NM_013339.4(ALG6):c.1059-7A>C
|
|
|
NM_013339.4(ALG6):c.1059-7A>G
|
rs769414669
|
|
NM_013339.4(ALG6):c.1059-8G>A
|
rs755900020
|
|
NM_013339.4(ALG6):c.1060C>T (p.Pro354Ser)
|
|
|
NM_013339.4(ALG6):c.1061C>T (p.Pro354Leu)
|
|
|
NM_013339.4(ALG6):c.1066T>C (p.Cys356Arg)
|
|
|
NM_013339.4(ALG6):c.1072_1076del (p.Val358fs)
|
|
|
NM_013339.4(ALG6):c.1075T>G (p.Leu359Val)
|
rs1260829753
|
|
NM_013339.4(ALG6):c.1076T>A (p.Leu359Ter)
|
|
|
NM_013339.4(ALG6):c.107G>A (p.Gly36Asp)
|
|
|
NM_013339.4(ALG6):c.1087C>A (p.Pro363Thr)
|
rs952006163
|
|
NM_013339.4(ALG6):c.1097C>T (p.Ser366Phe)
|
|
|
NM_013339.4(ALG6):c.1111C>T (p.Leu371Phe)
|
rs764449670
|
|
NM_013339.4(ALG6):c.1112T>C (p.Leu371Pro)
|
rs1644630271
|
|
NM_013339.4(ALG6):c.1113del (p.Val372fs)
|
|
|
NM_013339.4(ALG6):c.1116G>T (p.Val372=)
|
|
|
NM_013339.4(ALG6):c.1121C>T (p.Thr374Ile)
|
|
|
NM_013339.4(ALG6):c.1125T>G (p.Phe375Leu)
|
|
|
NM_013339.4(ALG6):c.1127+11T>C
|
rs1436987592
|
|
NM_013339.4(ALG6):c.1127+14A>G
|
|
|
NM_013339.4(ALG6):c.1127+18C>G
|
|
|
NM_013339.4(ALG6):c.1127+1G>A
|
rs1557597486
|
|
NM_013339.4(ALG6):c.1127+20A>G
|
|
|
NM_013339.4(ALG6):c.1127+4A>G
|
rs2100440455
|
|
NM_013339.4(ALG6):c.1127+8A>C
|
rs756307525
|
|
NM_013339.4(ALG6):c.1127+8A>G
|
rs756307525
|
|
NM_013339.4(ALG6):c.1127+9T>A
|
rs1303052047
|
|
NM_013339.4(ALG6):c.1128-15A>C
|
|
|
NM_013339.4(ALG6):c.1128-19T>A
|
|
|
NM_013339.4(ALG6):c.1128-1G>A
|
rs1644631015
|
|
NM_013339.4(ALG6):c.1128-2A>C
|
rs1553156882
|
|
NM_013339.4(ALG6):c.1128-3C>T
|
|
|
NM_013339.4(ALG6):c.1128-9C>T
|
rs2100440607
|
|
NM_013339.4(ALG6):c.1134A>C (p.Leu378=)
|
|
|
NM_013339.4(ALG6):c.1134A>G (p.Leu378=)
|
|
|
NM_013339.4(ALG6):c.1136del (p.Pro379fs)
|
rs1553156884
|
|
NM_013339.4(ALG6):c.1137T>A (p.Pro379=)
|
|
|
NM_013339.4(ALG6):c.1144T>C (p.Leu382=)
|
|
|
NM_013339.4(ALG6):c.114T>G (p.Tyr38Ter)
|
|
|
NM_013339.4(ALG6):c.1161A>G (p.Leu387=)
|
|
|
NM_013339.4(ALG6):c.1167del (p.Ser390fs)
|
rs769698652
|
|
NM_013339.4(ALG6):c.1171_1172del (p.Val391fs)
|
rs2100440701
|
|
NM_013339.4(ALG6):c.1176G>A (p.Val392=)
|
rs751280587
|
|
NM_013339.4(ALG6):c.1178C>A (p.Thr393Lys)
|
rs1644631363
|
|
NM_013339.4(ALG6):c.1188A>G (p.Ala396=)
|
|
|
NM_013339.4(ALG6):c.1192T>C (p.Phe398Leu)
|
|
|
NM_013339.4(ALG6):c.1193_1198del (p.Phe398_Ala400delinsSer)
|
rs1553156893
|
|
NM_013339.4(ALG6):c.1194_1195delinsG (p.Phe398fs)
|
rs1553156894
|
|
NM_013339.4(ALG6):c.1194dup (p.Ile399fs)
|
rs1207096732
|
|
NM_013339.4(ALG6):c.1203T>C (p.Cys401=)
|
|
|
NM_013339.4(ALG6):c.1206A>G (p.Val402=)
|
|
|
NM_013339.4(ALG6):c.121C>T (p.Gln41Ter)
|
rs759308812
|
|
NM_013339.4(ALG6):c.1227A>G (p.Glu409=)
|
|
|
NM_013339.4(ALG6):c.1228_1229del (p.Lys410fs)
|
|
|
NM_013339.4(ALG6):c.1237GAA[2] (p.Glu415del)
|
rs773295759
|
|
NM_013339.4(ALG6):c.123G>A (p.Gln41=)
|
|
|
NM_013339.4(ALG6):c.1242A>G (p.Glu414=)
|
|
|
NM_013339.4(ALG6):c.1246_1250del (p.Leu416fs)
|
|
|
NM_013339.4(ALG6):c.1249C>T (p.Gln417Ter)
|
rs1644631921
|
|
NM_013339.4(ALG6):c.1254G>A (p.Leu418=)
|
rs2100440829
|
|
NM_013339.4(ALG6):c.1257A>G (p.Lys419=)
|
|
|
NM_013339.4(ALG6):c.1260C>A (p.Ser420=)
|
|
|
NM_013339.4(ALG6):c.1260C>T (p.Ser420=)
|
|
|
NM_013339.4(ALG6):c.1266C>A (p.Ser422=)
|
rs748902317
|
|
NM_013339.4(ALG6):c.1266C>T (p.Ser422=)
|
rs748902317
|
|
NM_013339.4(ALG6):c.1272T>A (p.Ser424=)
|
|
|
NM_013339.4(ALG6):c.1281A>G (p.Lys427=)
|
|
|
NM_013339.4(ALG6):c.1290A>G (p.Pro430=)
|
|
|
NM_013339.4(ALG6):c.1291T>G (p.Cys431Gly)
|
|
|
NM_013339.4(ALG6):c.1296T>C (p.Phe432=)
|
rs2100440862
|
|
NM_013339.4(ALG6):c.129C>T (p.His43=)
|
rs2100404957
|
|
NM_013339.4(ALG6):c.12G>A (p.Trp4Ter)
|
|
|
NM_013339.4(ALG6):c.1303C>A (p.Leu435Ile)
|
rs2100440869
|
|
NM_013339.4(ALG6):c.1307C>A (p.Ser436Tyr)
|
|
|
NM_013339.4(ALG6):c.1308del (p.Arg437fs)
|
|
|
NM_013339.4(ALG6):c.130T>C (p.Trp44Arg)
|
rs2100404960
|
|
NM_013339.4(ALG6):c.1310G>T (p.Arg437Ile)
|
rs1318387105
|
|
NM_013339.4(ALG6):c.1325T>C (p.Leu442Ser)
|
rs2100440907
|
|
NM_013339.4(ALG6):c.1326+10A>G
|
|
|
NM_013339.4(ALG6):c.1326+1G>A
|
|
|
NM_013339.4(ALG6):c.1326+1G>T
|
rs1475789647
|
|
NM_013339.4(ALG6):c.1326+2dup
|
|
|
NM_013339.4(ALG6):c.1326+8C>G
|
rs2100440914
|
|
NM_013339.4(ALG6):c.1326+8C>T
|
|
|
NM_013339.4(ALG6):c.1327-12T>C
|
|
|
NM_013339.4(ALG6):c.1327-13T>C
|
|
|
NM_013339.4(ALG6):c.1327-15T>C
|
|
|
NM_013339.4(ALG6):c.1327-16C>A
|
|
|
NM_013339.4(ALG6):c.1327-17C>T
|
|
|
NM_013339.4(ALG6):c.1327-5T>G
|
|
|
NM_013339.4(ALG6):c.1327-8C>T
|
rs1004908693
|
|
NM_013339.4(ALG6):c.1327-9dup
|
rs1236127359
|
|
NM_013339.4(ALG6):c.1338dup (p.Val447fs)
|
rs1644681692
|
|
NM_013339.4(ALG6):c.1342A>C (p.Ile448Leu)
|
|
|
NM_013339.4(ALG6):c.1344C>T (p.Ile448=)
|
|
|
NM_013339.4(ALG6):c.1346C>G (p.Thr449Ser)
|
rs552078516
|
|
NM_013339.4(ALG6):c.1347T>C (p.Thr449=)
|
rs1644681761
|
|
NM_013339.4(ALG6):c.1359G>A (p.Leu453=)
|
rs2100448162
|
|
NM_013339.4(ALG6):c.1363T>C (p.Leu455=)
|
rs2100448173
|
|
NM_013339.4(ALG6):c.1364TGA[1] (p.Met456del)
|
rs1553157427
|
|
NM_013339.4(ALG6):c.1367T>C (p.Met456Thr)
|
|
|
NM_013339.4(ALG6):c.1371T>C (p.Thr457=)
|
|
|
NM_013339.4(ALG6):c.1372_1373del (p.Val458fs)
|
|
|
NM_013339.4(ALG6):c.137A>G (p.Glu46Gly)
|
|
|
NM_013339.4(ALG6):c.1386T>C (p.Pro462=)
|
rs1644682042
|
|
NM_013339.4(ALG6):c.138A>G (p.Glu46=)
|
|
|
NM_013339.4(ALG6):c.1390C>T (p.Gln464Ter)
|
rs1553157428
|
|
NM_013339.4(ALG6):c.1394_1398dup (p.Pro467fs)
|
rs1553157429
|
|
NM_013339.4(ALG6):c.1402G>C (p.Asp468His)
|
rs1644682187
|
|
NM_013339.4(ALG6):c.1413T>G (p.Ser471=)
|
rs2100448244
|
|
NM_013339.4(ALG6):c.1414G>A (p.Val472Ile)
|
rs1644682228
|
|
NM_013339.4(ALG6):c.1414G>C (p.Val472Leu)
|
rs1644682228
|
|
NM_013339.4(ALG6):c.1428T>C (p.Phe476=)
|
|
|
NM_013339.4(ALG6):c.1429G>C (p.Val477Leu)
|
rs747356051
|
|
NM_013339.4(ALG6):c.1432T>C (p.Ser478Pro)
|
rs121908444
|
|
NM_013339.4(ALG6):c.1436G>T (p.Cys479Phe)
|
|
|
NM_013339.4(ALG6):c.1443C>T (p.Asn481=)
|
rs1057524080
|
|
NM_013339.4(ALG6):c.1449G>A (p.Leu483=)
|
rs1644682453
|
|
NM_013339.4(ALG6):c.1449G>C (p.Leu483=)
|
|
|
NM_013339.4(ALG6):c.144T>A (p.Thr48=)
|
|
|
NM_013339.4(ALG6):c.1456T>C (p.Leu486=)
|
|
|
NM_013339.4(ALG6):c.1458G>C (p.Leu486Phe)
|
|
|
NM_013339.4(ALG6):c.1467T>C (p.Phe489=)
|
|
|
NM_013339.4(ALG6):c.1469_1474del (p.Asn490_Ile491del)
|
rs1553157450
|
|
NM_013339.4(ALG6):c.146_147del (p.Thr48_Phe49insTer)
|
rs756566938
|
|
NM_013339.4(ALG6):c.1473TAT[4] (p.Ile493dup)
|
rs1475726598
|
|
NM_013339.4(ALG6):c.1476T>C (p.Ile492=)
|
rs2100448349
|
|
NM_013339.4(ALG6):c.1479T>A (p.Ile493=)
|
rs1644682686
|
|
NM_013339.4(ALG6):c.147del (p.Phe49fs)
|
|
|
NM_013339.4(ALG6):c.1481T>C (p.Met494Thr)
|
rs766169939
|
|
NM_013339.4(ALG6):c.1490C>A (p.Ser497Tyr)
|
|
|
NM_013339.4(ALG6):c.1496G>A (p.Ser499Asn)
|
|
|
NM_013339.4(ALG6):c.1501A>G (p.Arg501Gly)
|
rs1644682851
|
|
NM_013339.4(ALG6):c.1506T>C (p.Asn502=)
|
|
|
NM_013339.4(ALG6):c.1508A>G (p.Gln503Arg)
|
|
|
NM_013339.4(ALG6):c.151T>A (p.Leu51Ile)
|
|
|
NM_013339.4(ALG6):c.1524G>A (p.Ter508=)
|
|
|
NM_013339.4(ALG6):c.154C>T (p.Pro52Ser)
|
|
|
NM_013339.4(ALG6):c.15C>T (p.Tyr5=)
|
rs1160519305
|
|
NM_013339.4(ALG6):c.167+14A>G
|
|
|
NM_013339.4(ALG6):c.167+15A>G
|
|
|
NM_013339.4(ALG6):c.167+19G>C
|
|
|
NM_013339.4(ALG6):c.167+5G>A
|
rs1557585860
|
|
NM_013339.4(ALG6):c.167+7del
|
|
|
NM_013339.4(ALG6):c.168-1G>A
|
|
|
NM_013339.4(ALG6):c.168-5T>C
|
rs2100412747
|
|
NM_013339.4(ALG6):c.168-9C>G
|
rs751572798
|
|
NM_013339.4(ALG6):c.168G>A (p.Trp56Ter)
|
|
|
NM_013339.4(ALG6):c.16T>C (p.Leu6=)
|
rs1439550994
|
|
NM_013339.4(ALG6):c.171T>A (p.Tyr57Ter)
|
rs780528545
|
|
NM_013339.4(ALG6):c.171T>C (p.Tyr57=)
|
|
|
NM_013339.4(ALG6):c.171T>G (p.Tyr57Ter)
|
rs780528545
|
|
NM_013339.4(ALG6):c.178A>C (p.Ser60Arg)
|
rs1330438032
|
|
NM_013339.4(ALG6):c.178A>G (p.Ser60Gly)
|
|
|
NM_013339.4(ALG6):c.180C>G (p.Ser60Arg)
|
|
|
NM_013339.4(ALG6):c.189_191del (p.Asn64del)
|
rs1553155267
|
|
NM_013339.4(ALG6):c.192T>C (p.Asn64=)
|
rs1644468589
|
|
NM_013339.4(ALG6):c.19A>G (p.Met7Val)
|
|
|
NM_013339.4(ALG6):c.201T>C (p.Tyr67=)
|
rs2100412804
|
|
NM_013339.4(ALG6):c.20T>C (p.Met7Thr)
|
|
|
NM_013339.4(ALG6):c.218C>T (p.Pro73Leu)
|
rs2100412827
|
|
NM_013339.4(ALG6):c.226dup (p.Thr76fs)
|
|
|
NM_013339.4(ALG6):c.227C>T (p.Thr76Ile)
|
rs773292757
|
|
NM_013339.4(ALG6):c.230_238delinsTCTCCTAT (p.Ala77fs)
|
|
|
NM_013339.4(ALG6):c.232del (p.Tyr78fs)
|
|
|
NM_013339.4(ALG6):c.234T>C (p.Tyr78=)
|
|
|
NM_013339.4(ALG6):c.235_237del (p.His79del)
|
rs1297610094
|
|
NM_013339.4(ALG6):c.236A>T (p.His79Leu)
|
|
|
NM_013339.4(ALG6):c.23C>G (p.Thr8Arg)
|
|
|
NM_013339.4(ALG6):c.246A>C (p.Leu82=)
|
rs112029121
|
|
NM_013339.4(ALG6):c.246A>G (p.Leu82=)
|
|
|
NM_013339.4(ALG6):c.24A>C (p.Thr8=)
|
rs2100378424
|
|
NM_013339.4(ALG6):c.254_255del (p.Tyr85fs)
|
rs2100412885
|
|
NM_013339.4(ALG6):c.256G>A (p.Val86Met)
|
|
|
NM_013339.4(ALG6):c.257+10del
|
|
|
NM_013339.4(ALG6):c.257+14del
|
|
|
NM_013339.4(ALG6):c.257+17T>C
|
|
|
NM_013339.4(ALG6):c.257+19A>T
|
|
|
NM_013339.4(ALG6):c.257+2T>C
|
rs1644468935
|
|
NM_013339.4(ALG6):c.258-13C>G
|
|
|
NM_013339.4(ALG6):c.258-14G>A
|
rs1644480698
|
|
NM_013339.4(ALG6):c.258-15T>A
|
rs1427230309
|
|
NM_013339.4(ALG6):c.258-18A>C
|
|
|
NM_013339.4(ALG6):c.258-18A>G
|
|
|
NM_013339.4(ALG6):c.258-19T>C
|
|
|
NM_013339.4(ALG6):c.258-2A>C
|
rs2100415367
|
|
NM_013339.4(ALG6):c.258-3C>T
|
|
|
NM_013339.4(ALG6):c.258-4G>T
|
rs376611585
|
|
NM_013339.4(ALG6):c.258-8A>G
|
rs1570063031
|
|
NM_013339.4(ALG6):c.258-9G>T
|
|
|
NM_013339.4(ALG6):c.258-9_267del
|
rs2100415350
|
|
NM_013339.4(ALG6):c.272A>G (p.Asn91Ser)
|
rs2100415389
|
|
NM_013339.4(ALG6):c.278A>G (p.Asp93Gly)
|
rs1329673040
|
|
NM_013339.4(ALG6):c.279C>T (p.Asp93=)
|
rs2100415406
|
|
NM_013339.4(ALG6):c.27A>C (p.Val9=)
|
|
|
NM_013339.4(ALG6):c.281G>A (p.Trp94Ter)
|
|
|
NM_013339.4(ALG6):c.282G>T (p.Trp94Cys)
|
|
|
NM_013339.4(ALG6):c.285_286insTATAAACTTT (p.Ala96fs)
|
|
|
NM_013339.4(ALG6):c.288T>C (p.Ala96=)
|
|
|
NM_013339.4(ALG6):c.290del (p.Leu97fs)
|
rs1644480895
|
|
NM_013339.4(ALG6):c.291C>T (p.Leu97=)
|
rs1232614059
|
|
NM_013339.4(ALG6):c.297A>G (p.Thr99=)
|
rs2100415439
|
|
NM_013339.4(ALG6):c.301C>T (p.Arg101Cys)
|
|
|
NM_013339.4(ALG6):c.303T>A (p.Arg101=)
|
|
|
NM_013339.4(ALG6):c.316C>T (p.Gln106Ter)
|
rs1240285695
|
|
NM_013339.4(ALG6):c.318G>A (p.Gln106=)
|
rs1316712862
|
|
NM_013339.4(ALG6):c.322C>G (p.His108Asp)
|
rs2100415489
|
|
NM_013339.4(ALG6):c.325A>G (p.Lys109Glu)
|
rs1644481094
|
|
NM_013339.4(ALG6):c.326A>T (p.Lys109Met)
|
|
|
NM_013339.4(ALG6):c.327G>A (p.Lys109=)
|
rs1389168920
|
|
NM_013339.4(ALG6):c.338G>T (p.Arg113Leu)
|
|
|
NM_013339.4(ALG6):c.346+11A>G
|
|
|
NM_013339.4(ALG6):c.346+12A>G
|
|
|
NM_013339.4(ALG6):c.346+13T>C
|
|
|
NM_013339.4(ALG6):c.346+15G>T
|
|
|
NM_013339.4(ALG6):c.346+16G>A
|
rs76013640
|
|
NM_013339.4(ALG6):c.346+16G>T
|
rs76013640
|
|
NM_013339.4(ALG6):c.346+19G>A
|
|
|
NM_013339.4(ALG6):c.346+20T>C
|
|
|
NM_013339.4(ALG6):c.346+5A>G
|
|
|
NM_013339.4(ALG6):c.346+6dup
|
|
|
NM_013339.4(ALG6):c.346+7G>C
|
rs1159085775
|
|
NM_013339.4(ALG6):c.346+8A>G
|
|
|
NM_013339.4(ALG6):c.347-14A>C
|
|
|
NM_013339.4(ALG6):c.347-17T>C
|
|
|
NM_013339.4(ALG6):c.347-2A>G
|
|
|
NM_013339.4(ALG6):c.350T>A (p.Leu117Ter)
|
|
|
NM_013339.4(ALG6):c.352del (p.Ile118fs)
|
|
|
NM_013339.4(ALG6):c.390G>T (p.Leu130Phe)
|
rs961740482
|
|
NM_013339.4(ALG6):c.399T>A (p.Cys133Ter)
|
|
|
NM_013339.4(ALG6):c.409G>T (p.Glu137Ter)
|
rs2100417039
|
|
NM_013339.4(ALG6):c.410A>T (p.Glu137Val)
|
|
|
NM_013339.4(ALG6):c.415T>C (p.Ser139Pro)
|
|
|
NM_013339.4(ALG6):c.419C>T (p.Thr140Ile)
|
|
|
NM_013339.4(ALG6):c.420T>A (p.Thr140=)
|
rs150097046
|
|
NM_013339.4(ALG6):c.425A>T (p.Lys142Ile)
|
rs2100417063
|
|
NM_013339.4(ALG6):c.428A>C (p.Lys143Thr)
|
rs2100417066
|
|
NM_013339.4(ALG6):c.428del (p.Lys143fs)
|
rs1471326272
|
|
NM_013339.4(ALG6):c.429+1G>A
|
|
|
NM_013339.4(ALG6):c.429+2T>C
|
|
|
NM_013339.4(ALG6):c.429+2T>G
|
rs1270337982
|
|
NM_013339.4(ALG6):c.429+9T>C
|
|
|
NM_013339.4(ALG6):c.429G>A (p.Lys143=)
|
rs193223712
|
|
NM_013339.4(ALG6):c.430-10G>C
|
|
|
NM_013339.4(ALG6):c.430-18C>T
|
|
|
NM_013339.4(ALG6):c.430-19A>G
|
|
|
NM_013339.4(ALG6):c.430-2A>G
|
rs1553155565
|
|
NM_013339.4(ALG6):c.431T>C (p.Ile144Thr)
|
|
|
NM_013339.4(ALG6):c.434C>G (p.Ala145Gly)
|
|
|
NM_013339.4(ALG6):c.435T>A (p.Ala145=)
|
|
|
NM_013339.4(ALG6):c.442T>C (p.Leu148=)
|
|
|
NM_013339.4(ALG6):c.443dup (p.Leu148fs)
|
|
|
NM_013339.4(ALG6):c.446G>C (p.Cys149Ser)
|
rs2100417551
|
|
NM_013339.4(ALG6):c.448A>G (p.Ile150Val)
|
rs571644669
|
|
NM_013339.4(ALG6):c.44T>A (p.Leu15Gln)
|
|
|
NM_013339.4(ALG6):c.450C>A (p.Ile150=)
|
rs1644492796
|
|
NM_013339.4(ALG6):c.452del (p.Leu151fs)
|
rs1349358854
|
|
NM_013339.4(ALG6):c.454C>T (p.Leu152=)
|
|
|
NM_013339.4(ALG6):c.456G>A (p.Leu152=)
|
rs751956471
|
|
NM_013339.4(ALG6):c.459T>C (p.Tyr153=)
|
rs887812609
|
|
NM_013339.4(ALG6):c.471_476del (p.156_157LI[1])
|
rs1553155569
|
|
NM_013339.4(ALG6):c.474T>C (p.Leu158=)
|
rs2100417592
|
|
NM_013339.4(ALG6):c.484_485insA (p.Gly162fs)
|
rs2100417620
|
|
NM_013339.4(ALG6):c.489T>C (p.His163=)
|
rs2100417628
|
|
NM_013339.4(ALG6):c.492dup (p.Gln165fs)
|
rs1644493041
|
|
NM_013339.4(ALG6):c.493C>T (p.Gln165Ter)
|
|
|
NM_013339.4(ALG6):c.493del (p.Gln165fs)
|
|
|
NM_013339.4(ALG6):c.495-10A>C
|
|
|
NM_013339.4(ALG6):c.495-2A>T
|
rs1227131990
|
|
NM_013339.4(ALG6):c.495-6G>A
|
|
|
NM_013339.4(ALG6):c.495-8A>G
|
rs2100420744
|
|
NM_013339.4(ALG6):c.495A>G (p.Gln165=)
|
rs886046471
|
|
NM_013339.4(ALG6):c.498T>G (p.Tyr166Ter)
|
|
|
NM_013339.4(ALG6):c.4G>A (p.Glu2Lys)
|
|
|
NM_013339.4(ALG6):c.504T>C (p.Ser168=)
|
|
|
NM_013339.4(ALG6):c.506_507del (p.Val169fs)
|
rs1274913587
|
|
NM_013339.4(ALG6):c.507G>A (p.Val169=)
|
|
|
NM_013339.4(ALG6):c.510T>C (p.Ser170=)
|
|
|
NM_013339.4(ALG6):c.51A>C (p.Val17=)
|
rs2100378459
|
|
NM_013339.4(ALG6):c.527G>A (p.Trp176Ter)
|
|
|
NM_013339.4(ALG6):c.531T>A (p.Gly177=)
|
rs1644513973
|
|
NM_013339.4(ALG6):c.532G>A (p.Val178Ile)
|
rs2100420805
|
|
NM_013339.4(ALG6):c.546T>C (p.Ser182=)
|
rs762983061
|
|
NM_013339.4(ALG6):c.546T>G (p.Ser182=)
|
|
|
NM_013339.4(ALG6):c.548G>A (p.Cys183Tyr)
|
|
|
NM_013339.4(ALG6):c.552C>T (p.Asp184=)
|
|
|
NM_013339.4(ALG6):c.553T>C (p.Cys185Arg)
|
|
|
NM_013339.4(ALG6):c.561C>T (p.Leu187=)
|
rs2100420841
|
|
NM_013339.4(ALG6):c.562C>T (p.Leu188=)
|
|
|
NM_013339.4(ALG6):c.563T>A (p.Leu188Gln)
|
rs1446317739
|
|
NM_013339.4(ALG6):c.564A>G (p.Leu188=)
|
rs755149107
|
|
NM_013339.4(ALG6):c.574del (p.Ala192fs)
|
rs2100420854
|
|
NM_013339.4(ALG6):c.576A>G (p.Ala192=)
|
rs1421405856
|
|
NM_013339.4(ALG6):c.57G>A (p.Trp19Ter)
|
|
|
NM_013339.4(ALG6):c.597T>C (p.Tyr199=)
|
rs2100420873
|
|
NM_013339.4(ALG6):c.600A>G (p.Lys200=)
|
|
|
NM_013339.4(ALG6):c.602A>G (p.Gln201Arg)
|
rs1644514423
|
|
NM_013339.4(ALG6):c.604A>G (p.Met202Val)
|
|
|
NM_013339.4(ALG6):c.604A>T (p.Met202Leu)
|
rs757012140
|
|
NM_013339.4(ALG6):c.60A>G (p.Thr20=)
|
|
|
NM_013339.4(ALG6):c.619G>A (p.Ala207Thr)
|
|
|
NM_013339.4(ALG6):c.619G>T (p.Ala207Ser)
|
rs756038267
|
|
NM_013339.4(ALG6):c.621C>A (p.Ala207=)
|
rs2100420899
|
|
NM_013339.4(ALG6):c.622T>C (p.Leu208=)
|
|
|
NM_013339.4(ALG6):c.625C>T (p.Pro209Ser)
|
|
|
NM_013339.4(ALG6):c.628T>G (p.Phe210Val)
|
|
|
NM_013339.4(ALG6):c.634T>G (p.Cys212Gly)
|
rs1644514646
|
|
NM_013339.4(ALG6):c.634del (p.Cys212fs)
|
rs879133727
|
|
NM_013339.4(ALG6):c.634dup (p.Cys212fs)
|
rs879133727
|
|
NM_013339.4(ALG6):c.636C>T (p.Cys212=)
|
|
|
NM_013339.4(ALG6):c.63G>A (p.Val21=)
|
|
|
NM_013339.4(ALG6):c.63G>T (p.Val21=)
|
rs1647908648
|
|
NM_013339.4(ALG6):c.642del (p.Leu214fs)
|
|
|
NM_013339.4(ALG6):c.651G>A (p.Lys217=)
|
|
|
NM_013339.4(ALG6):c.654T>A (p.Cys218Ter)
|
|
|
NM_013339.4(ALG6):c.656T>C (p.Phe219Ser)
|
|
|
NM_013339.4(ALG6):c.657del (p.Phe219fs)
|
|
|
NM_013339.4(ALG6):c.658A>T (p.Lys220Ter)
|
|
|
NM_013339.4(ALG6):c.65_66insAAGA (p.Leu23fs)
|
rs1553153399
|
|
NM_013339.4(ALG6):c.660A>G (p.Lys220=)
|
rs2100420972
|
|
NM_013339.4(ALG6):c.663del (p.Gly222fs)
|
|
|
NM_013339.4(ALG6):c.663dup (p.Gly222fs)
|
|
|
NM_013339.4(ALG6):c.665_669dup (p.Lys224fs)
|
|
|
NM_013339.4(ALG6):c.670A>T (p.Lys224Ter)
|
|
|
NM_013339.4(ALG6):c.677A>T (p.Lys226Met)
|
|
|
NM_013339.4(ALG6):c.680+10T>C
|
|
|
NM_013339.4(ALG6):c.680+11T>G
|
|
|
NM_013339.4(ALG6):c.680+12T>C
|
rs777324596
|
|
NM_013339.4(ALG6):c.680+19C>T
|
|
|
NM_013339.4(ALG6):c.680+1del
|
|
|
NM_013339.4(ALG6):c.680+4A>G
|
|
|
NM_013339.4(ALG6):c.680+8del
|
|
|
NM_013339.4(ALG6):c.681-16T>G
|
|
|
NM_013339.4(ALG6):c.681-17C>A
|
|
|
NM_013339.4(ALG6):c.681-17C>G
|
|
|
NM_013339.4(ALG6):c.681-18C>G
|
|
|
NM_013339.4(ALG6):c.681-19A>C
|
|
|
NM_013339.4(ALG6):c.681-1G>T
|
|
|
NM_013339.4(ALG6):c.681-3del
|
rs763183173
|
|
NM_013339.4(ALG6):c.681-4_681-3insGTTTTTTTGTTTGTTT
|
|
|
NM_013339.4(ALG6):c.681-5T>G
|
|
|
NM_013339.4(ALG6):c.681-6T>G
|
|
|
NM_013339.4(ALG6):c.682T>C (p.Phe228Leu)
|
|
|
NM_013339.4(ALG6):c.684del (p.Phe228fs)
|
rs2100421533
|
|
NM_013339.4(ALG6):c.692T>C (p.Leu231Pro)
|
|
|
NM_013339.4(ALG6):c.699G>A (p.Lys233=)
|
|
|
NM_013339.4(ALG6):c.6G>T (p.Glu2Asp)
|
|
|
NM_013339.4(ALG6):c.707G>A (p.Cys236Tyr)
|
|
|
NM_013339.4(ALG6):c.711TGT[1] (p.Val239del)
|
|
|
NM_013339.4(ALG6):c.712G>A (p.Val238Ile)
|
|
|
NM_013339.4(ALG6):c.714T>C (p.Val238=)
|
|
|
NM_013339.4(ALG6):c.714del (p.Val239fs)
|
|
|
NM_013339.4(ALG6):c.720T>G (p.Ala240=)
|
rs2100421596
|
|
NM_013339.4(ALG6):c.723C>G (p.Ser241=)
|
|
|
NM_013339.4(ALG6):c.723del (p.Phe242fs)
|
rs755112036
|
|
NM_013339.4(ALG6):c.726C>G (p.Phe242Leu)
|
|
|
NM_013339.4(ALG6):c.728T>C (p.Val243Ala)
|
rs886046472
|
|
NM_013339.4(ALG6):c.731T>A (p.Leu244His)
|
|
|
NM_013339.4(ALG6):c.732C>T (p.Leu244=)
|
rs528739746
|
|
NM_013339.4(ALG6):c.732_748dup (p.Phe250fs)
|
rs1553155823
|
|
NM_013339.4(ALG6):c.737G>A (p.Trp246Ter)
|
|
|
NM_013339.4(ALG6):c.738G>A (p.Trp246Ter)
|
|
|
NM_013339.4(ALG6):c.741G>T (p.Leu247=)
|
rs1644518821
|
|
NM_013339.4(ALG6):c.742C>A (p.Pro248Thr)
|
|
|
NM_013339.4(ALG6):c.750T>C (p.Phe250=)
|
rs2100421671
|
|
NM_013339.4(ALG6):c.762A>G (p.Glu254=)
|
rs1392863186
|
|
NM_013339.4(ALG6):c.769C>T (p.Leu257=)
|
|
|
NM_013339.4(ALG6):c.771G>A (p.Leu257=)
|
rs2100421694
|
|
NM_013339.4(ALG6):c.772C>T (p.Gln258Ter)
|
|
|
NM_013339.4(ALG6):c.774G>A (p.Gln258=)
|
|
|
NM_013339.4(ALG6):c.778C>G (p.Leu260Val)
|
|
|
NM_013339.4(ALG6):c.780A>G (p.Leu260=)
|
|
|
NM_013339.4(ALG6):c.781AGA[1] (p.Arg262del)
|
rs886548508
|
|
NM_013339.4(ALG6):c.789_790del (p.Phe264fs)
|
rs767943869
|
|
NM_013339.4(ALG6):c.791del (p.Phe264fs)
|
rs2100421716
|
|
NM_013339.4(ALG6):c.794C>T (p.Pro265Leu)
|
|
|
NM_013339.4(ALG6):c.796_799dup (p.Asp267delinsGlyTer)
|
rs2100421727
|
|
NM_013339.4(ALG6):c.798T>C (p.Val266=)
|
|
|
NM_013339.4(ALG6):c.798_804dup (p.Gly269Ter)
|
|
|
NM_013339.4(ALG6):c.804T>C (p.Arg268=)
|
rs1644519126
|
|
NM_013339.4(ALG6):c.816+11del
|
|
|
NM_013339.4(ALG6):c.816+12C>A
|
|
|
NM_013339.4(ALG6):c.816+14C>A
|
|
|
NM_013339.4(ALG6):c.816+16T>C
|
|
|
NM_013339.4(ALG6):c.816+18C>A
|
rs2100421763
|
|
NM_013339.4(ALG6):c.816+19C>T
|
|
|
NM_013339.4(ALG6):c.816+4T>G
|
|
|
NM_013339.4(ALG6):c.816+8T>A
|
|
|
NM_013339.4(ALG6):c.817-8C>G
|
|
|
NM_013339.4(ALG6):c.82+12T>G
|
|
|
NM_013339.4(ALG6):c.82+13T>A
|
|
|
NM_013339.4(ALG6):c.82+17G>C
|
|
|
NM_013339.4(ALG6):c.82+18G>A
|
|
|
NM_013339.4(ALG6):c.82+1G>A
|
|
|
NM_013339.4(ALG6):c.82+7C>T
|
rs2100378518
|
|
NM_013339.4(ALG6):c.82+8A>G
|
|
|
NM_013339.4(ALG6):c.82+9T>G
|
|
|
NM_013339.4(ALG6):c.820A>T (p.Lys274Ter)
|
|
|
NM_013339.4(ALG6):c.823G>A (p.Val275Ile)
|
|
|
NM_013339.4(ALG6):c.826G>A (p.Ala276Thr)
|
|
|
NM_013339.4(ALG6):c.82_82+8del
|
rs1424742651
|
|
NM_013339.4(ALG6):c.83-20C>A
|
|
|
NM_013339.4(ALG6):c.83-8G>T
|
|
|
NM_013339.4(ALG6):c.83-9T>G
|
|
|
NM_013339.4(ALG6):c.830A>G (p.Asn277Ser)
|
|
|
NM_013339.4(ALG6):c.835del (p.Trp279fs)
|
rs2100423312
|
|
NM_013339.4(ALG6):c.843C>T (p.Ser281=)
|
|
|
NM_013339.4(ALG6):c.846C>G (p.Phe282Leu)
|
|
|
NM_013339.4(ALG6):c.849del (p.Asn283fs)
|
rs1644530448
|
|
NM_013339.4(ALG6):c.852C>G (p.Val284=)
|
rs912739738
|
|
NM_013339.4(ALG6):c.857T>G (p.Leu286Arg)
|
|
|
NM_013339.4(ALG6):c.864T>A (p.Ile288=)
|
|
|
NM_013339.4(ALG6):c.867G>A (p.Lys289=)
|
|
|
NM_013339.4(ALG6):c.879A>G (p.Pro293=)
|
rs2100423371
|
|
NM_013339.4(ALG6):c.87T>C (p.Ala29=)
|
rs2100404896
|
|
NM_013339.4(ALG6):c.880C>T (p.Arg294Cys)
|
|
|
NM_013339.4(ALG6):c.885C>T (p.His295=)
|
rs1271043295
|
|
NM_013339.4(ALG6):c.888C>T (p.Ile296=)
|
rs2100423389
|
|
NM_013339.4(ALG6):c.889C>T (p.Gln297Ter)
|
|
|
NM_013339.4(ALG6):c.892T>C (p.Leu298=)
|
|
|
NM_013339.4(ALG6):c.893T>A (p.Leu298Ter)
|
|
|
NM_013339.4(ALG6):c.894AAT[1] (p.Ile299del)
|
rs387906338
|
|
NM_013339.4(ALG6):c.902+11_902+14del
|
rs2100423419
|
|
NM_013339.4(ALG6):c.902+12A>T
|
|
|
NM_013339.4(ALG6):c.902+13A>G
|
|
|
NM_013339.4(ALG6):c.902+2dup
|
|
|
NM_013339.4(ALG6):c.902+7G>T
|
rs372337207
|
|
NM_013339.4(ALG6):c.903-11T>G
|
|
|
NM_013339.4(ALG6):c.903-16T>C
|
|
|
NM_013339.4(ALG6):c.903-20G>T
|
rs756370228
|
|
NM_013339.4(ALG6):c.903-4T>C
|
rs2100425042
|
|
NM_013339.4(ALG6):c.903-7T>C
|
|
|
NM_013339.4(ALG6):c.903-8T>C
|
|
|
NM_013339.4(ALG6):c.915G>C (p.Thr305=)
|
rs112769742
|
|
NM_013339.4(ALG6):c.915G>T (p.Thr305=)
|
rs112769742
|
|
NM_013339.4(ALG6):c.919T>C (p.Leu307=)
|
|
|
NM_013339.4(ALG6):c.920T>A (p.Leu307Ter)
|
rs1644543791
|
|
NM_013339.4(ALG6):c.924C>A (p.Ser308Arg)
|
|
|
NM_013339.4(ALG6):c.927G>C (p.Leu309=)
|
rs2100425098
|
|
NM_013339.4(ALG6):c.940A>G (p.Ile314Val)
|
|
|
NM_013339.4(ALG6):c.946T>C (p.Leu316=)
|
rs2100425118
|
|
NM_013339.4(ALG6):c.947T>G (p.Leu316Ter)
|
|
|
NM_013339.4(ALG6):c.947_950del (p.Leu316fs)
|
|
|
NM_013339.4(ALG6):c.960C>T (p.Pro320=)
|
|
|
NM_013339.4(ALG6):c.964T>G (p.Ser322Ala)
|
|
|
NM_013339.4(ALG6):c.974_984del (p.Phe325fs)
|
|
|
NM_013339.4(ALG6):c.984A>C (p.Thr328=)
|
|
|
NM_013339.4(ALG6):c.984A>G (p.Thr328=)
|
|
|
NM_013339.4(ALG6):c.985C>T (p.Leu329=)
|
rs1422218414
|
|
NM_013339.4(ALG6):c.987+11C>A
|
rs1557592881
|
|
NM_013339.4(ALG6):c.987+14T>C
|
|
|
NM_013339.4(ALG6):c.987+1G>T
|
|
|
NM_013339.4(ALG6):c.987G>A (p.Leu329=)
|
|
|
NM_013339.4(ALG6):c.988-13T>G
|
|
|
NM_013339.4(ALG6):c.988-14C>T
|
|
|
NM_013339.4(ALG6):c.988-14_988-13del
|
|
|
NM_013339.4(ALG6):c.988-14del
|
|
|
NM_013339.4(ALG6):c.988-15C>A
|
|
|
NM_013339.4(ALG6):c.988-16C>A
|
|
|
NM_013339.4(ALG6):c.988-16C>T
|
|
|
NM_013339.4(ALG6):c.988-18C>T
|
|
|
NM_013339.4(ALG6):c.988-1G>A
|
rs781473515
|
|
NM_013339.4(ALG6):c.988-5T>C
|
|
|
NM_013339.4(ALG6):c.988-7C>A
|
|
|
NM_013339.4(ALG6):c.988-7dup
|
|
|
NM_013339.4(ALG6):c.988-8T>C
|
rs1644561783
|
|
NM_013339.4(ALG6):c.988-8dup
|
rs779365053
|
|
NM_013339.4(ALG6):c.988G>T (p.Val330Phe)
|
rs1057518724
|
|
NM_013339.4(ALG6):c.999G>C (p.Ala333=)
|
|
|
NM_013339.4(ALG6):c.999G>T (p.Ala333=)
|
|
|
NM_013339.4(ALG6):c.9A>G (p.Lys3=)
|
rs2100378404
|
|
NM_014908.3(DOLK):c.971_974delinsT (p.Ser324_Ser325delinsPhe)
|
rs1554826767
|
|
NM_014908.4(DOLK):c.-15C>T
|
rs1272594617
|
|
NM_014908.4(DOLK):c.-211C>T
|
rs565536230
|
|
NM_014908.4(DOLK):c.1009C>G (p.Arg337Gly)
|
rs1276394817
|
|
NM_014908.4(DOLK):c.101T>C (p.Ile34Thr)
|
rs1554826863
|
|
NM_014908.4(DOLK):c.1028T>C (p.Ile343Thr)
|
|
|
NM_014908.4(DOLK):c.1039A>G (p.Thr347Ala)
|
|
|
NM_014908.4(DOLK):c.1045A>C (p.Ile349Leu)
|
|
|
NM_014908.4(DOLK):c.1058T>C (p.Ile353Thr)
|
rs2131127590
|
|
NM_014908.4(DOLK):c.1059C>T (p.Ile353=)
|
rs1167712176
|
|
NM_014908.4(DOLK):c.1065C>T (p.Asp355=)
|
|
|
NM_014908.4(DOLK):c.1066C>T (p.Arg356Trp)
|
|
|
NM_014908.4(DOLK):c.106G>A (p.Ala36Thr)
|
rs1841688809
|
|
NM_014908.4(DOLK):c.1071A>G (p.Pro357=)
|
|
|
NM_014908.4(DOLK):c.1082T>C (p.Val361Ala)
|
|
|
NM_014908.4(DOLK):c.1089C>A (p.Ala363=)
|
|
|
NM_014908.4(DOLK):c.1090_1099del (p.Thr364fs)
|
rs2131127481
|
|
NM_014908.4(DOLK):c.109A>C (p.Thr37Pro)
|
|
|
NM_014908.4(DOLK):c.1103C>T (p.Ala368Val)
|
|
|
NM_014908.4(DOLK):c.1105G>A (p.Val369Ile)
|
|
|
NM_014908.4(DOLK):c.1110C>T (p.Phe370=)
|
|
|
NM_014908.4(DOLK):c.1116C>T (p.Phe372=)
|
|
|
NM_014908.4(DOLK):c.1126G>A (p.Val376Met)
|
rs1841662463
|
|
NM_014908.4(DOLK):c.1138C>T (p.Arg380Cys)
|
rs775869216
|
|
NM_014908.4(DOLK):c.113T>C (p.Val38Ala)
|
|
|
NM_014908.4(DOLK):c.1140C>T (p.Arg380=)
|
|
|
NM_014908.4(DOLK):c.1149T>C (p.Pro383=)
|
rs1554826752
|
|
NM_014908.4(DOLK):c.1170C>T (p.Ser390=)
|
|
|
NM_014908.4(DOLK):c.1176G>T (p.Leu392=)
|
rs1229430506
|
|
NM_014908.4(DOLK):c.118G>A (p.Asp40Asn)
|
|
|
NM_014908.4(DOLK):c.1193A>G (p.Glu398Gly)
|
|
|
NM_014908.4(DOLK):c.1195C>G (p.Arg399Gly)
|
|
|
NM_014908.4(DOLK):c.1222C>G (p.His408Asp)
|
rs387907030
|
|
NM_014908.4(DOLK):c.1224C>T (p.His408=)
|
|
|
NM_014908.4(DOLK):c.1224_1225del (p.Ile409fs)
|
rs1223257193
|
|
NM_014908.4(DOLK):c.1227C>G (p.Ile409Met)
|
rs1841659405
|
|
NM_014908.4(DOLK):c.1229A>T (p.Tyr410Phe)
|
rs2131127216
|
|
NM_014908.4(DOLK):c.122G>A (p.Arg41Gln)
|
rs1841688531
|
|
NM_014908.4(DOLK):c.1235T>C (p.Leu412Pro)
|
rs1841659135
|
|
NM_014908.4(DOLK):c.1241G>A (p.Gly414Asp)
|
rs1554826737
|
|
NM_014908.4(DOLK):c.1245_1246del (p.Met415fs)
|
rs1841658916
|
|
NM_014908.4(DOLK):c.1257_1258del (p.Ile419fs)
|
|
|
NM_014908.4(DOLK):c.1267C>T (p.Pro423Ser)
|
rs1354312358
|
|
NM_014908.4(DOLK):c.1273C>T (p.Pro425Ser)
|
rs2131127164
|
|
NM_014908.4(DOLK):c.1275del (p.Cys426fs)
|
rs1401485925
|
|
NM_014908.4(DOLK):c.1278C>T (p.Cys426=)
|
|
|
NM_014908.4(DOLK):c.1282del (p.Gln428fs)
|
|
|
NM_014908.4(DOLK):c.1284G>C (p.Gln428His)
|
rs1458281229
|
|
NM_014908.4(DOLK):c.1286A>G (p.Lys429Arg)
|
rs574562542
|
|
NM_014908.4(DOLK):c.1288G>C (p.Gly430Arg)
|
rs140983401
|
|
NM_014908.4(DOLK):c.129G>C (p.Ser43=)
|
rs372068885
|
|
NM_014908.4(DOLK):c.1300G>A (p.Gly434Arg)
|
rs2131127105
|
|
NM_014908.4(DOLK):c.1302_1311del (p.Ala435fs)
|
|
|
NM_014908.4(DOLK):c.1303G>A (p.Ala435Thr)
|
rs1306365829
|
|
NM_014908.4(DOLK):c.1320C>G (p.Pro440=)
|
|
|
NM_014908.4(DOLK):c.1322A>C (p.Tyr441Ser)
|
rs137853110
|
|
NM_014908.4(DOLK):c.1327G>A (p.Gly443Ser)
|
|
|
NM_014908.4(DOLK):c.1330G>A (p.Val444Ile)
|
rs2131127044
|
|
NM_014908.4(DOLK):c.1332C>T (p.Val444=)
|
|
|
NM_014908.4(DOLK):c.1332_1333dup (p.Leu445fs)
|
rs1287763056
|
|
NM_014908.4(DOLK):c.1342G>C (p.Gly448Arg)
|
|
|
NM_014908.4(DOLK):c.1344_1346dup (p.Val449_Gly450insVal)
|
|
|
NM_014908.4(DOLK):c.1348G>A (p.Gly450Ser)
|
|
|
NM_014908.4(DOLK):c.1352A>G (p.Asp451Gly)
|
|
|
NM_014908.4(DOLK):c.1359G>A (p.Val453=)
|
rs2131127011
|
|
NM_014908.4(DOLK):c.1362C>T (p.Ala454=)
|
rs2131127008
|
|
NM_014908.4(DOLK):c.1363T>A (p.Ser455Thr)
|
|
|
NM_014908.4(DOLK):c.136G>A (p.Ala46Thr)
|
rs2131129267
|
|
NM_014908.4(DOLK):c.137C>T (p.Ala46Val)
|
rs1554826859
|
|
NM_014908.4(DOLK):c.1380C>T (p.Thr460=)
|
rs1372552063
|
|
NM_014908.4(DOLK):c.1381A>G (p.Met461Val)
|
rs1199897936
|
|
NM_014908.4(DOLK):c.1383G>C (p.Met461Ile)
|
rs749027694
|
|
NM_014908.4(DOLK):c.1393C>T (p.Arg465Cys)
|
|
|
NM_014908.4(DOLK):c.1395C>G (p.Arg465=)
|
|
|
NM_014908.4(DOLK):c.1395C>T (p.Arg465=)
|
rs1045763502
|
|
NM_014908.4(DOLK):c.1402G>A (p.Gly468Arg)
|
rs750308538
|
|
NM_014908.4(DOLK):c.1407C>T (p.Thr469=)
|
|
|
NM_014908.4(DOLK):c.141G>A (p.Val47=)
|
|
|
NM_014908.4(DOLK):c.1424G>T (p.Gly475Val)
|
rs1588261710
|
|
NM_014908.4(DOLK):c.1427_1428delinsTT (p.Thr476Ile)
|
|
|
NM_014908.4(DOLK):c.1429A>G (p.Met477Val)
|
rs763666338
|
|
NM_014908.4(DOLK):c.143C>T (p.Ala48Val)
|
rs1293227197
|
|
NM_014908.4(DOLK):c.1456T>A (p.Ser486Thr)
|
|
|
NM_014908.4(DOLK):c.1457C>T (p.Ser486Phe)
|
rs1180339847
|
|
NM_014908.4(DOLK):c.1462G>T (p.Ala488Ser)
|
rs1588261659
|
|
NM_014908.4(DOLK):c.1482C>T (p.Asp494=)
|
|
|
NM_014908.4(DOLK):c.148G>A (p.Ala50Thr)
|
rs2131129240
|
|
NM_014908.4(DOLK):c.1490T>C (p.Val497Ala)
|
rs1354195997
|
|
NM_014908.4(DOLK):c.1505G>C (p.Ser502Thr)
|
|
|
NM_014908.4(DOLK):c.1509T>C (p.Tyr503=)
|
rs1331692893
|
|
NM_014908.4(DOLK):c.1522G>T (p.Gly508Trp)
|
rs2131126776
|
|
NM_014908.4(DOLK):c.1525T>G (p.Ser509Ala)
|
|
|
NM_014908.4(DOLK):c.1528A>G (p.Ile510Val)
|
rs777422185
|
|
NM_014908.4(DOLK):c.1532G>A (p.Ser511Asn)
|
rs1178866364
|
|
NM_014908.4(DOLK):c.1536T>G (p.Thr512=)
|
|
|
NM_014908.4(DOLK):c.1563A>G (p.Thr521=)
|
|
|
NM_014908.4(DOLK):c.1569_1570insAATCT (p.Asp524fs)
|
rs2131126691
|
|
NM_014908.4(DOLK):c.156G>C (p.Gln52His)
|
rs1339562262
|
|
NM_014908.4(DOLK):c.1571A>T (p.Asp524Val)
|
|
|
NM_014908.4(DOLK):c.1574A>G (p.Asn525Ser)
|
|
|
NM_014908.4(DOLK):c.1576C>T (p.Leu526Phe)
|
|
|
NM_014908.4(DOLK):c.1578_1580del (p.Leu528del)
|
rs1841648901
|
|
NM_014908.4(DOLK):c.1596C>G (p.Leu532=)
|
|
|
NM_014908.4(DOLK):c.15C>T (p.Cys5=)
|
|
|
NM_014908.4(DOLK):c.1600A>G (p.Ile534Val)
|
|
|
NM_014908.4(DOLK):c.1603T>C (p.Leu535=)
|
|
|
NM_014908.4(DOLK):c.1606C>G (p.Leu536Val)
|
|
|
NM_014908.4(DOLK):c.1616A>G (p.Ter539Trp)
|
|
|
NM_014908.4(DOLK):c.18A>G (p.Pro6=)
|
rs1841691192
|
|
NM_014908.4(DOLK):c.191T>C (p.Leu64Pro)
|
|
|
NM_014908.4(DOLK):c.196C>T (p.Gln66Ter)
|
rs876657785
|
|
NM_014908.4(DOLK):c.200G>A (p.Gly67Glu)
|
|
|
NM_014908.4(DOLK):c.202A>T (p.Ser68Cys)
|
rs2131129139
|
|
NM_014908.4(DOLK):c.206C>T (p.Ala69Val)
|
rs1554826850
|
|
NM_014908.4(DOLK):c.207C>G (p.Ala69=)
|
|
|
NM_014908.4(DOLK):c.207C>T (p.Ala69=)
|
rs145764316
|
|
NM_014908.4(DOLK):c.219C>G (p.Phe73Leu)
|
rs761385789
|
|
NM_014908.4(DOLK):c.22C>T (p.Pro8Ser)
|
rs565096448
|
|
NM_014908.4(DOLK):c.231A>G (p.Ala77=)
|
rs1035319147
|
|
NM_014908.4(DOLK):c.244T>C (p.Leu82=)
|
rs1588262895
|
|
NM_014908.4(DOLK):c.248C>T (p.Pro83Leu)
|
rs2131129046
|
|
NM_014908.4(DOLK):c.250G>T (p.Ala84Ser)
|
rs1841684950
|
|
NM_014908.4(DOLK):c.261C>T (p.Val87=)
|
|
|
NM_014908.4(DOLK):c.263T>C (p.Met88Thr)
|
rs1588262888
|
|
NM_014908.4(DOLK):c.26C>T (p.Ala9Val)
|
|
|
NM_014908.4(DOLK):c.275G>C (p.Gly92Ala)
|
rs1841684568
|
|
NM_014908.4(DOLK):c.277C>G (p.Leu93Val)
|
|
|
NM_014908.4(DOLK):c.27C>G (p.Ala9=)
|
rs2131129465
|
|
NM_014908.4(DOLK):c.294G>A (p.Arg98=)
|
rs876657456
|
|
NM_014908.4(DOLK):c.295T>A (p.Cys99Ser)
|
rs137853109
|
|
NM_014908.4(DOLK):c.2T>C (p.Met1Thr)
|
rs587777137
|
|
NM_014908.4(DOLK):c.302C>T (p.Thr101Ile)
|
rs1192393606
|
|
NM_014908.4(DOLK):c.304G>T (p.Ala102Ser)
|
rs1841683982
|
|
NM_014908.4(DOLK):c.305C>G (p.Ala102Gly)
|
|
|
NM_014908.4(DOLK):c.313C>A (p.Pro105Thr)
|
rs1454594732
|
|
NM_014908.4(DOLK):c.313C>T (p.Pro105Ser)
|
|
|
NM_014908.4(DOLK):c.324G>C (p.Glu108Asp)
|
rs1841683382
|
|
NM_014908.4(DOLK):c.325C>A (p.Arg109Ser)
|
rs755188614
|
|
NM_014908.4(DOLK):c.325C>G (p.Arg109Gly)
|
rs755188614
|
|
NM_014908.4(DOLK):c.325C>T (p.Arg109Cys)
|
rs755188614
|
|
NM_014908.4(DOLK):c.330T>G (p.Phe110Leu)
|
|
|
NM_014908.4(DOLK):c.332G>A (p.Gly111Asp)
|
|
|
NM_014908.4(DOLK):c.339G>A (p.Val113=)
|
rs2131128893
|
|
NM_014908.4(DOLK):c.34C>A (p.Pro12Thr)
|
rs2131129450
|
|
NM_014908.4(DOLK):c.355A>G (p.Met119Val)
|
rs2131128868
|
|
NM_014908.4(DOLK):c.367C>T (p.Leu123Phe)
|
|
|
NM_014908.4(DOLK):c.376T>G (p.Ser126Ala)
|
rs1564546286
|
|
NM_014908.4(DOLK):c.387G>A (p.Ala129=)
|
rs761831947
|
|
NM_014908.4(DOLK):c.387G>C (p.Ala129=)
|
rs761831947
|
|
NM_014908.4(DOLK):c.390C>G (p.Leu130=)
|
rs774441866
|
|
NM_014908.4(DOLK):c.390C>T (p.Leu130=)
|
|
|
NM_014908.4(DOLK):c.3G>A (p.Met1Ile)
|
rs1564546510
|
|
NM_014908.4(DOLK):c.400C>T (p.Arg134Cys)
|
|
|
NM_014908.4(DOLK):c.407T>C (p.Val136Ala)
|
rs1306944564
|
|
NM_014908.4(DOLK):c.409C>T (p.Pro137Ser)
|
rs2131128759
|
|
NM_014908.4(DOLK):c.426C>T (p.Val142=)
|
rs1465958631
|
|
NM_014908.4(DOLK):c.433G>T (p.Gly145Cys)
|
|
|
NM_014908.4(DOLK):c.446G>A (p.Gly149Asp)
|
|
|
NM_014908.4(DOLK):c.45G>T (p.Pro15=)
|
rs2131129425
|
|
NM_014908.4(DOLK):c.460A>G (p.Ile154Val)
|
rs1841679811
|
|
NM_014908.4(DOLK):c.464T>C (p.Met155Thr)
|
rs2131128665
|
|
NM_014908.4(DOLK):c.46C>T (p.Leu16=)
|
rs933503741
|
|
NM_014908.4(DOLK):c.470A>C (p.His157Pro)
|
rs145050630
|
|
NM_014908.4(DOLK):c.477G>C (p.Leu159Phe)
|
|
|
NM_014908.4(DOLK):c.481G>T (p.Val161Leu)
|
rs769800558
|
|
NM_014908.4(DOLK):c.490G>A (p.Val164Met)
|
rs767933821
|
|
NM_014908.4(DOLK):c.495C>A (p.Ile165=)
|
rs149177994
|
|
NM_014908.4(DOLK):c.502_522del (p.Leu168_Phe174del)
|
|
|
NM_014908.4(DOLK):c.507A>T (p.Glu169Asp)
|
rs1841678421
|
|
NM_014908.4(DOLK):c.516G>A (p.Leu172=)
|
|
|
NM_014908.4(DOLK):c.520T>C (p.Phe174Leu)
|
|
|
NM_014908.4(DOLK):c.521T>G (p.Phe174Cys)
|
rs2131128535
|
|
NM_014908.4(DOLK):c.522C>T (p.Phe174=)
|
rs770077124
|
|
NM_014908.4(DOLK):c.534C>T (p.Asn178=)
|
rs1201588280
|
|
NM_014908.4(DOLK):c.540C>A (p.Ile180=)
|
|
|
NM_014908.4(DOLK):c.543G>T (p.Leu181=)
|
|
|
NM_014908.4(DOLK):c.549C>T (p.Tyr183=)
|
|
|
NM_014908.4(DOLK):c.559C>T (p.Arg187Cys)
|
|
|
NM_014908.4(DOLK):c.560G>A (p.Arg187His)
|
rs377658203
|
|
NM_014908.4(DOLK):c.565T>A (p.Phe189Ile)
|
rs2131128464
|
|
NM_014908.4(DOLK):c.56C>T (p.Ser19Leu)
|
|
|
NM_014908.4(DOLK):c.572C>G (p.Pro191Arg)
|
rs767965852
|
|
NM_014908.4(DOLK):c.591_592dup (p.Leu198fs)
|
|
|
NM_014908.4(DOLK):c.597T>A (p.Gly199=)
|
|
|
NM_014908.4(DOLK):c.59T>G (p.Val20Gly)
|
|
|
NM_014908.4(DOLK):c.611T>C (p.Val204Ala)
|
rs1554826810
|
|
NM_014908.4(DOLK):c.61C>T (p.Leu21=)
|
|
|
NM_014908.4(DOLK):c.620A>C (p.Gln207Pro)
|
rs2131128386
|
|
NM_014908.4(DOLK):c.621G>T (p.Gln207His)
|
rs1841675660
|
|
NM_014908.4(DOLK):c.64G>A (p.Ala22Thr)
|
rs2131129407
|
|
NM_014908.4(DOLK):c.656del (p.Gln219fs)
|
rs2131128315
|
|
NM_014908.4(DOLK):c.664C>T (p.Pro222Ser)
|
|
|
NM_014908.4(DOLK):c.684GGT[2] (p.Val232del)
|
rs1841674220
|
|
NM_014908.4(DOLK):c.693A>G (p.Val231=)
|
rs2131128273
|
|
NM_014908.4(DOLK):c.699G>T (p.Gly233=)
|
rs2131128256
|
|
NM_014908.4(DOLK):c.702G>A (p.Met234Ile)
|
|
|
NM_014908.4(DOLK):c.702G>C (p.Met234Ile)
|
rs746656818
|
|
NM_014908.4(DOLK):c.708C>T (p.Leu236=)
|
rs1177109504
|
|
NM_014908.4(DOLK):c.731dup (p.Phe245fs)
|
rs1588262474
|
|
NM_014908.4(DOLK):c.732G>A (p.Leu244=)
|
|
|
NM_014908.4(DOLK):c.736G>C (p.Val246Leu)
|
rs1029841868
|
|
NM_014908.4(DOLK):c.738C>T (p.Val246=)
|
|
|
NM_014908.4(DOLK):c.743T>C (p.Met248Thr)
|
|
|
NM_014908.4(DOLK):c.747C>T (p.Asp249=)
|
rs2131128124
|
|
NM_014908.4(DOLK):c.758G>C (p.Trp253Ser)
|
rs2131128090
|
|
NM_014908.4(DOLK):c.771C>G (p.Ile257Met)
|
rs147416890
|
|
NM_014908.4(DOLK):c.781C>A (p.Leu261Ile)
|
|
|
NM_014908.4(DOLK):c.787A>T (p.Thr263Ser)
|
rs2131128060
|
|
NM_014908.4(DOLK):c.800G>T (p.Ser267Ile)
|
|
|
NM_014908.4(DOLK):c.816A>G (p.Leu272=)
|
rs1841671262
|
|
NM_014908.4(DOLK):c.829C>T (p.Arg277Trp)
|
rs1253487442
|
|
NM_014908.4(DOLK):c.834C>A (p.Leu278=)
|
|
|
NM_014908.4(DOLK):c.859C>T (p.Leu287Phe)
|
rs1841670200
|
|
NM_014908.4(DOLK):c.860TTC[1] (p.Leu288del)
|
rs773789842
|
|
NM_014908.4(DOLK):c.864T>C (p.Leu288=)
|
|
|
NM_014908.4(DOLK):c.889C>T (p.Arg297Cys)
|
|
|
NM_014908.4(DOLK):c.890G>A (p.Arg297His)
|
|
|
NM_014908.4(DOLK):c.912G>T (p.Trp304Cys)
|
rs1564545929
|
|
NM_014908.4(DOLK):c.915T>C (p.Ser305=)
|
rs2131127826
|
|
NM_014908.4(DOLK):c.919C>T (p.Leu307=)
|
rs927774250
|
|
NM_014908.4(DOLK):c.931G>T (p.Ala311Ser)
|
rs1554826773
|
|
NM_014908.4(DOLK):c.941T>C (p.Val314Ala)
|
|
|
NM_014908.4(DOLK):c.956A>G (p.Asn319Ser)
|
|
|
NM_014908.4(DOLK):c.962A>G (p.Lys321Arg)
|
rs1841666950
|
|
NM_014908.4(DOLK):c.964C>G (p.Arg322Gly)
|
|
|
NM_014908.4(DOLK):c.965G>A (p.Arg322Gln)
|
|
|
NM_014908.4(DOLK):c.966G>C (p.Arg322=)
|
|
|
NM_014908.4(DOLK):c.968C>T (p.Ser323Leu)
|
rs2131127724
|
|
NM_014908.4(DOLK):c.96G>A (p.Leu32=)
|
|
|
NM_014908.4(DOLK):c.971C>T (p.Ser324Phe)
|
|
|
NM_014908.4(DOLK):c.975C>A (p.Ser325=)
|
rs149462670
|
|
NM_014908.4(DOLK):c.975C>G (p.Ser325=)
|
|
|
NM_014908.4(DOLK):c.977A>T (p.Glu326Val)
|
rs1841666209
|
|
NM_014908.4(DOLK):c.98G>T (p.Ser33Ile)
|
|
|
NM_014908.4(DOLK):c.993G>C (p.Gln331His)
|
rs1841665962
|
|
NM_015354.3(NUP188):c.-13C>T
|
rs3750324
|
|
NM_019109.4(ALG1):c.149A>G (p.Gln50Arg)
|
rs794726944
|
|
NM_019109.5(ALG1):c.1017_1019dup (p.Gln339dup)
|
rs2142721988
|
|
NM_019109.5(ALG1):c.1025A>C (p.Gln342Pro)
|
rs267606651
|
|
NM_019109.5(ALG1):c.102T>C (p.His34=)
|
|
|
NM_019109.5(ALG1):c.1034C>T (p.Thr345Ile)
|
|
|
NM_019109.5(ALG1):c.1037C>G (p.Pro346Arg)
|
rs398124347
|
|
NM_019109.5(ALG1):c.1038C>T (p.Pro346=)
|
|
|
NM_019109.5(ALG1):c.1042C>T (p.Leu348=)
|
rs2142722071
|
|
NM_019109.5(ALG1):c.1043T>G (p.Leu348Arg)
|
rs2142722084
|
|
NM_019109.5(ALG1):c.1051G>A (p.Glu351Lys)
|
|
|
NM_019109.5(ALG1):c.1056C>G (p.Asp352Glu)
|
|
|
NM_019109.5(ALG1):c.1057T>G (p.Tyr353Asp)
|
rs1596259672
|
|
NM_019109.5(ALG1):c.1059C>A (p.Tyr353Ter)
|
|
|
NM_019109.5(ALG1):c.1059C>T (p.Tyr353=)
|
|
|
NM_019109.5(ALG1):c.1062C>A (p.Pro354=)
|
|
|
NM_019109.5(ALG1):c.1062C>G (p.Pro354=)
|
|
|
NM_019109.5(ALG1):c.1062C>T (p.Pro354=)
|
rs909468865
|
|
NM_019109.5(ALG1):c.1063del (p.Leu355fs)
|
rs758259853
|
|
NM_019109.5(ALG1):c.1065G>A (p.Leu355=)
|
|
|
NM_019109.5(ALG1):c.1072+11A>G
|
|
|
NM_019109.5(ALG1):c.1072+12G>A
|
|
|
NM_019109.5(ALG1):c.1072+13C>A
|
|
|
NM_019109.5(ALG1):c.1072+13C>T
|
|
|
NM_019109.5(ALG1):c.1072+16G>A
|
|
|
NM_019109.5(ALG1):c.1072+1G>T
|
|
|
NM_019109.5(ALG1):c.1072+20C>G
|
|
|
NM_019109.5(ALG1):c.1072+20C>T
|
|
|
NM_019109.5(ALG1):c.1072+8G>T
|
|
|
NM_019109.5(ALG1):c.1073-12_1073-11del
|
rs1381566017
|
|
NM_019109.5(ALG1):c.1073-14C>T
|
|
|
NM_019109.5(ALG1):c.1073-19C>T
|
|
|
NM_019109.5(ALG1):c.1073-1G>A
|
|
|
NM_019109.5(ALG1):c.1073-2A>G
|
rs1957033825
|
|
NM_019109.5(ALG1):c.1073G>C (p.Gly358Ala)
|
|
|
NM_019109.5(ALG1):c.1076C>T (p.Ser359Leu)
|
rs1299775990
|
|
NM_019109.5(ALG1):c.1080G>C (p.Ala360=)
|
|
|
NM_019109.5(ALG1):c.1080G>T (p.Ala360=)
|
rs143939207
|
|
NM_019109.5(ALG1):c.1081G>T (p.Asp361Tyr)
|
rs2142725570
|
|
NM_019109.5(ALG1):c.1086G>C (p.Leu362=)
|
|
|
NM_019109.5(ALG1):c.1090G>A (p.Val364Ile)
|
|
|
NM_019109.5(ALG1):c.1091_1092delinsGG (p.Val364Gly)
|
rs2142725608
|
|
NM_019109.5(ALG1):c.1095T>A (p.Cys365Ter)
|
|
|
NM_019109.5(ALG1):c.1095_1098del (p.Leu366fs)
|
|
|
NM_019109.5(ALG1):c.1097T>A (p.Leu366Gln)
|
rs1596261208
|
|
NM_019109.5(ALG1):c.1098G>C (p.Leu366=)
|
|
|
NM_019109.5(ALG1):c.1117C>T (p.Leu373=)
|
|
|
NM_019109.5(ALG1):c.1128C>A (p.Pro376=)
|
|
|
NM_019109.5(ALG1):c.1136T>G (p.Val379Gly)
|
rs1555452573
|
|
NM_019109.5(ALG1):c.1140G>A (p.Val380=)
|
rs2142725780
|
|
NM_019109.5(ALG1):c.1143C>T (p.Asp381=)
|
rs753000258
|
|
NM_019109.5(ALG1):c.1144A>G (p.Met382Val)
|
|
|
NM_019109.5(ALG1):c.1145T>C (p.Met382Thr)
|
rs1596261268
|
|
NM_019109.5(ALG1):c.1150G>A (p.Gly384Arg)
|
rs1057520122
|
|
NM_019109.5(ALG1):c.115del (p.Val39fs)
|
rs886042130
|
|
NM_019109.5(ALG1):c.1162C>T (p.Pro388Ser)
|
rs398124349
|
|
NM_019109.5(ALG1):c.1163C>T (p.Pro388Leu)
|
|
|
NM_019109.5(ALG1):c.1165G>A (p.Val389Met)
|
rs2142725866
|
|
NM_019109.5(ALG1):c.1166T>C (p.Val389Ala)
|
rs1394994402
|
|
NM_019109.5(ALG1):c.1182C>G (p.Phe394Leu)
|
rs1386102245
|
|
NM_019109.5(ALG1):c.1187+12A>G
|
|
|
NM_019109.5(ALG1):c.1187+13C>A
|
|
|
NM_019109.5(ALG1):c.1187+14C>T
|
|
|
NM_019109.5(ALG1):c.1187+15C>G
|
|
|
NM_019109.5(ALG1):c.1187+17A>C
|
|
|
NM_019109.5(ALG1):c.1187+9A>G
|
|
|
NM_019109.5(ALG1):c.1188-10C>G
|
|
|
NM_019109.5(ALG1):c.1188-13G>C
|
|
|
NM_019109.5(ALG1):c.1188-14G>C
|
|
|
NM_019109.5(ALG1):c.1188-17C>G
|
|
|
NM_019109.5(ALG1):c.1188-1G>A
|
rs2142728485
|
|
NM_019109.5(ALG1):c.1188-8C>G
|
|
|
NM_019109.5(ALG1):c.1188-8C>T
|
|
|
NM_019109.5(ALG1):c.1188T>A (p.Cys396Ter)
|
rs387906927
|
|
NM_019109.5(ALG1):c.1193A>G (p.His398Arg)
|
rs1292094188
|
|
NM_019109.5(ALG1):c.1199T>G (p.Leu400Arg)
|
|
|
NM_019109.5(ALG1):c.119T>C (p.Leu40Pro)
|
rs2142698518
|
|
NM_019109.5(ALG1):c.11C>A (p.Ser4Ter)
|
|
|
NM_019109.5(ALG1):c.11C>T (p.Ser4Leu)
|
|
|
NM_019109.5(ALG1):c.1200G>T (p.Leu400=)
|
|
|
NM_019109.5(ALG1):c.1203G>A (p.Val401=)
|
|
|
NM_019109.5(ALG1):c.1208A>C (p.His403Pro)
|
|
|
NM_019109.5(ALG1):c.120G>C (p.Leu40=)
|
|
|
NM_019109.5(ALG1):c.1210GAA[1] (p.Glu405del)
|
|
|
NM_019109.5(ALG1):c.1227C>G (p.Val409=)
|
|
|
NM_019109.5(ALG1):c.1236C>T (p.Asp412=)
|
|
|
NM_019109.5(ALG1):c.123C>G (p.Gly41=)
|
|
|
NM_019109.5(ALG1):c.123C>T (p.Gly41=)
|
|
|
NM_019109.5(ALG1):c.1250C>G (p.Ala417Gly)
|
|
|
NM_019109.5(ALG1):c.1252G>T (p.Ala418Ser)
|
|
|
NM_019109.5(ALG1):c.1255C>T (p.Gln419Ter)
|
|
|
NM_019109.5(ALG1):c.1257G>C (p.Gln419His)
|
rs2142728655
|
|
NM_019109.5(ALG1):c.1260G>A (p.Leu420=)
|
|
|
NM_019109.5(ALG1):c.1263+10T>G
|
|
|
NM_019109.5(ALG1):c.1263+13G>C
|
|
|
NM_019109.5(ALG1):c.1263+14C>T
|
|
|
NM_019109.5(ALG1):c.1263+17C>T
|
rs1567172251
|
|
NM_019109.5(ALG1):c.1263+2T>C
|
|
|
NM_019109.5(ALG1):c.1263+8C>A
|
|
|
NM_019109.5(ALG1):c.1263+9G>A
|
|
|
NM_019109.5(ALG1):c.1263G>A (p.Gln421=)
|
|
|
NM_019109.5(ALG1):c.1272C>T (p.Phe424=)
|
|
|
NM_019109.5(ALG1):c.1280T>G (p.Phe427Cys)
|
rs1957090242
|
|
NM_019109.5(ALG1):c.1287_1288delinsAA (p.Asp429_Pro430delinsGluThr)
|
rs2142732373
|
|
NM_019109.5(ALG1):c.1292C>T (p.Ala431Val)
|
rs370439294
|
|
NM_019109.5(ALG1):c.12A>G (p.Ser4=)
|
|
|
NM_019109.5(ALG1):c.12A>T (p.Ser4=)
|
|
|
NM_019109.5(ALG1):c.1302A>T (p.Leu434=)
|
|
|
NM_019109.5(ALG1):c.1306C>T (p.Gln436Ter)
|
rs1261895166
|
|
NM_019109.5(ALG1):c.1314G>C (p.Arg438=)
|
|
|
NM_019109.5(ALG1):c.1317G>A (p.Lys439=)
|
|
|
NM_019109.5(ALG1):c.131G>T (p.Gly44Val)
|
|
|
NM_019109.5(ALG1):c.1324C>A (p.Arg442=)
|
|
|
NM_019109.5(ALG1):c.1325G>A (p.Arg442Gln)
|
rs758197753
|
|
NM_019109.5(ALG1):c.1326G>A (p.Arg442=)
|
|
|
NM_019109.5(ALG1):c.1327G>A (p.Glu443Lys)
|
rs540792178
|
|
NM_019109.5(ALG1):c.1329G>A (p.Glu443=)
|
|
|
NM_019109.5(ALG1):c.132C>T (p.Gly44=)
|
|
|
NM_019109.5(ALG1):c.1332G>A (p.Ser444=)
|
rs554183734
|
|
NM_019109.5(ALG1):c.1335G>A (p.Gln445=)
|
|
|
NM_019109.5(ALG1):c.1341C>G (p.Leu447=)
|
|
|
NM_019109.5(ALG1):c.1342C>T (p.Arg448Ter)
|
rs1047747
|
|
NM_019109.5(ALG1):c.1343G>A (p.Arg448Gln)
|
|
|
NM_019109.5(ALG1):c.1344A>G (p.Arg448=)
|
|
|
NM_019109.5(ALG1):c.1345T>C (p.Trp449Arg)
|
rs144047909
|
|
NM_019109.5(ALG1):c.1349A>G (p.Asp450Gly)
|
|
|
NM_019109.5(ALG1):c.1358G>T (p.Trp453Leu)
|
|
|
NM_019109.5(ALG1):c.1365G>A (p.Gln455=)
|
|
|
NM_019109.5(ALG1):c.1365G>C (p.Gln455His)
|
|
|
NM_019109.5(ALG1):c.1368T>A (p.Thr456=)
|
rs1455567093
|
|
NM_019109.5(ALG1):c.1369G>A (p.Val457Met)
|
|
|
NM_019109.5(ALG1):c.1376C>T (p.Pro459Leu)
|
|
|
NM_019109.5(ALG1):c.1385T>C (p.Met462Thr)
|
rs1957097146
|
|
NM_019109.5(ALG1):c.1392A>G (p.Thr464=)
|
|
|
NM_019109.5(ALG1):c.13T>C (p.Cys5Arg)
|
rs752179113
|
|
NM_019109.5(ALG1):c.13T>G (p.Cys5Gly)
|
|
|
NM_019109.5(ALG1):c.156C>T (p.His52=)
|
|
|
NM_019109.5(ALG1):c.15C>A (p.Cys5Ter)
|
rs752922461
|
|
NM_019109.5(ALG1):c.15C>T (p.Cys5=)
|
|
|
NM_019109.5(ALG1):c.160C>G (p.Leu54Val)
|
rs1956824877
|
|
NM_019109.5(ALG1):c.160C>T (p.Leu54=)
|
|
|
NM_019109.5(ALG1):c.162G>T (p.Leu54=)
|
rs2142698659
|
|
NM_019109.5(ALG1):c.164dup (p.Leu56fs)
|
|
|
NM_019109.5(ALG1):c.165G>C (p.Ser55=)
|
rs2142698676
|
|
NM_019109.5(ALG1):c.169G>A (p.Ala57Thr)
|
|
|
NM_019109.5(ALG1):c.169G>T (p.Ala57Ser)
|
|
|
NM_019109.5(ALG1):c.16T>C (p.Leu6=)
|
|
|
NM_019109.5(ALG1):c.173T>C (p.Met58Thr)
|
|
|
NM_019109.5(ALG1):c.176A>C (p.His59Pro)
|
rs773372110
|
|
NM_019109.5(ALG1):c.176A>G (p.His59Arg)
|
rs773372110
|
|
NM_019109.5(ALG1):c.177C>T (p.His59=)
|
|
|
NM_019109.5(ALG1):c.183C>T (p.Phe61=)
|
|
|
NM_019109.5(ALG1):c.185C>A (p.Ser62Ter)
|
|
|
NM_019109.5(ALG1):c.189G>A (p.Val63=)
|
rs2142698777
|
|
NM_019109.5(ALG1):c.18G>T (p.Leu6Phe)
|
rs758274229
|
|
NM_019109.5(ALG1):c.191C>T (p.Thr64Ile)
|
rs145474820
|
|
NM_019109.5(ALG1):c.193C>T (p.Leu65Phe)
|
|
|
NM_019109.5(ALG1):c.19G>C (p.Val7Leu)
|
|
|
NM_019109.5(ALG1):c.200G>T (p.Gly67Val)
|
rs778626972
|
|
NM_019109.5(ALG1):c.201G>C (p.Gly67=)
|
|
|
NM_019109.5(ALG1):c.204C>T (p.Phe68=)
|
rs545347166
|
|
NM_019109.5(ALG1):c.208+135dup
|
rs34061670
|
|
NM_019109.5(ALG1):c.208+13G>C
|
|
|
NM_019109.5(ALG1):c.208+14G>A
|
|
|
NM_019109.5(ALG1):c.208+16_208+19dup
|
rs35400794
|
|
NM_019109.5(ALG1):c.208+17_208+18insCGTC
|
|
|
NM_019109.5(ALG1):c.208+18_208+19insATCT
|
|
|
NM_019109.5(ALG1):c.208+18_208+19insTTCT
|
|
|
NM_019109.5(ALG1):c.208+19G>A
|
|
|
NM_019109.5(ALG1):c.208+19_208+20insTATG
|
rs756830715
|
|
NM_019109.5(ALG1):c.208+19_208+20insTTTG
|
|
|
NM_019109.5(ALG1):c.208+1G>A
|
|
|
NM_019109.5(ALG1):c.208+1G>C
|
rs1313166263
|
|
NM_019109.5(ALG1):c.209-10C>T
|
rs749446443
|
|
NM_019109.5(ALG1):c.209-14T>A
|
rs769870335
|
|
NM_019109.5(ALG1):c.209-15A>G
|
|
|
NM_019109.5(ALG1):c.209-16C>T
|
|
|
NM_019109.5(ALG1):c.209-18A>C
|
rs536671036
|
|
NM_019109.5(ALG1):c.209-20G>A
|
|
|
NM_019109.5(ALG1):c.209-2A>G
|
rs774618681
|
|
NM_019109.5(ALG1):c.209-4T>A
|
|
|
NM_019109.5(ALG1):c.209-4del
|
|
|
NM_019109.5(ALG1):c.210C>T (p.Asn70=)
|
rs1376984579
|
|
NM_019109.5(ALG1):c.212C>G (p.Ser71Cys)
|
|
|
NM_019109.5(ALG1):c.213C>G (p.Ser71=)
|
|
|
NM_019109.5(ALG1):c.21C>G (p.Val7=)
|
|
|
NM_019109.5(ALG1):c.225T>A (p.Asp75Glu)
|
rs1205327334
|
|
NM_019109.5(ALG1):c.228G>A (p.Glu76=)
|
|
|
NM_019109.5(ALG1):c.231C>G (p.Leu77=)
|
|
|
NM_019109.5(ALG1):c.235C>T (p.Gln79Ter)
|
|
|
NM_019109.5(ALG1):c.238A>C (p.Asn80His)
|
|
|
NM_019109.5(ALG1):c.238A>G (p.Asn80Asp)
|
rs755346143
|
|
NM_019109.5(ALG1):c.240C>G (p.Asn80Lys)
|
|
|
NM_019109.5(ALG1):c.244A>C (p.Arg82=)
|
|
|
NM_019109.5(ALG1):c.254T>C (p.Ile85Thr)
|
|
|
NM_019109.5(ALG1):c.258G>C (p.Val86=)
|
|
|
NM_019109.5(ALG1):c.25C>G (p.Leu9Val)
|
|
|
NM_019109.5(ALG1):c.25C>T (p.Leu9=)
|
rs771370322
|
|
NM_019109.5(ALG1):c.261G>A (p.Gly87=)
|
|
|
NM_019109.5(ALG1):c.267A>C (p.Thr89=)
|
rs768454735
|
|
NM_019109.5(ALG1):c.267A>G (p.Thr89=)
|
|
|
NM_019109.5(ALG1):c.267A>T (p.Thr89=)
|
rs768454735
|
|
NM_019109.5(ALG1):c.27G>A (p.Leu9=)
|
|
|
NM_019109.5(ALG1):c.27G>C (p.Leu9=)
|
|
|
NM_019109.5(ALG1):c.27G>T (p.Leu9=)
|
|
|
NM_019109.5(ALG1):c.283G>A (p.Ala95Thr)
|
|
|
NM_019109.5(ALG1):c.286+10C>G
|
|
|
NM_019109.5(ALG1):c.286+11G>A
|
rs1475023645
|
|
NM_019109.5(ALG1):c.286+15A>G
|
|
|
NM_019109.5(ALG1):c.286+16C>A
|
|
|
NM_019109.5(ALG1):c.286+16C>T
|
|
|
NM_019109.5(ALG1):c.286+20A>G
|
|
|
NM_019109.5(ALG1):c.286+8G>A
|
rs375987369
|
|
NM_019109.5(ALG1):c.286+8G>T
|
|
|
NM_019109.5(ALG1):c.287-10T>C
|
|
|
NM_019109.5(ALG1):c.287-12T>C
|
|
|
NM_019109.5(ALG1):c.287-12_289del
|
rs2142701800
|
|
NM_019109.5(ALG1):c.287-18G>A
|
rs1567166306
|
|
NM_019109.5(ALG1):c.287-19G>A
|
|
|
NM_019109.5(ALG1):c.287-7C>G
|
|
|
NM_019109.5(ALG1):c.287-9G>T
|
|
|
NM_019109.5(ALG1):c.287T>A (p.Val96Asp)
|
rs534863399
|
|
NM_019109.5(ALG1):c.287T>G (p.Val96Gly)
|
rs534863399
|
|
NM_019109.5(ALG1):c.288T>C (p.Val96=)
|
|
|
NM_019109.5(ALG1):c.28_45dup (p.Leu15_Pro16insAlaLeuCysLeuLeuLeu)
|
|
|
NM_019109.5(ALG1):c.292C>G (p.Pro98Ala)
|
rs1252818613
|
|
NM_019109.5(ALG1):c.292C>T (p.Pro98Ser)
|
|
|
NM_019109.5(ALG1):c.293C>T (p.Pro98Leu)
|
rs1596252105
|
|
NM_019109.5(ALG1):c.29C>A (p.Ala10Glu)
|
rs767455250
|
|
NM_019109.5(ALG1):c.301_302dup (p.Gln102fs)
|
|
|
NM_019109.5(ALG1):c.309C>G (p.Tyr103Ter)
|
rs199553558
|
|
NM_019109.5(ALG1):c.30G>A (p.Ala10=)
|
|
|
NM_019109.5(ALG1):c.30G>C (p.Ala10=)
|
|
|
NM_019109.5(ALG1):c.30G>T (p.Ala10=)
|
|
|
NM_019109.5(ALG1):c.310G>A (p.Gly104Arg)
|
rs992880561
|
|
NM_019109.5(ALG1):c.312A>C (p.Gly104=)
|
|
|
NM_019109.5(ALG1):c.317A>C (p.Lys106Thr)
|
|
|
NM_019109.5(ALG1):c.318dup (p.Val107fs)
|
|
|
NM_019109.5(ALG1):c.31C>T (p.Leu11=)
|
|
|
NM_019109.5(ALG1):c.324A>G (p.Val108=)
|
|
|
NM_019109.5(ALG1):c.339C>G (p.Tyr113Ter)
|
rs776990436
|
|
NM_019109.5(ALG1):c.33G>T (p.Leu11=)
|
|
|
NM_019109.5(ALG1):c.34_51dup (p.Cys12_Leu17dup)
|
rs1436106795
|
|
NM_019109.5(ALG1):c.363G>A (p.Arg121=)
|
|
|
NM_019109.5(ALG1):c.366G>A (p.Glu122=)
|
|
|
NM_019109.5(ALG1):c.368C>G (p.Pro123Arg)
|
|
|
NM_019109.5(ALG1):c.369A>G (p.Pro123=)
|
|
|
NM_019109.5(ALG1):c.372T>C (p.Gly124=)
|
|
|
NM_019109.5(ALG1):c.377A>T (p.Tyr126Phe)
|
rs200094659
|
|
NM_019109.5(ALG1):c.387C>G (p.Leu129=)
|
|
|
NM_019109.5(ALG1):c.390+11G>A
|
|
|
NM_019109.5(ALG1):c.390+11G>C
|
|
|
NM_019109.5(ALG1):c.390+13C>A
|
rs62036244
|
|
NM_019109.5(ALG1):c.390+13C>G
|
|
|
NM_019109.5(ALG1):c.390+13C>T
|
rs62036244
|
|
NM_019109.5(ALG1):c.390+15C>T
|
|
|
NM_019109.5(ALG1):c.390+17G>A
|
|
|
NM_019109.5(ALG1):c.390+18C>T
|
|
|
NM_019109.5(ALG1):c.390+3G>T
|
|
|
NM_019109.5(ALG1):c.390+5G>A
|
|
|
NM_019109.5(ALG1):c.390+6T>G
|
rs2142702237
|
|
NM_019109.5(ALG1):c.390+9C>T
|
|
|
NM_019109.5(ALG1):c.391-12T>C
|
|
|
NM_019109.5(ALG1):c.391-13C>T
|
|
|
NM_019109.5(ALG1):c.391-16T>C
|
|
|
NM_019109.5(ALG1):c.391-17G>C
|
|
|
NM_019109.5(ALG1):c.391-20C>T
|
|
|
NM_019109.5(ALG1):c.391-2A>G
|
|
|
NM_019109.5(ALG1):c.391-5C>T
|
|
|
NM_019109.5(ALG1):c.393C>T (p.Asn131=)
|
|
|
NM_019109.5(ALG1):c.396C>T (p.Pro132=)
|
|
|
NM_019109.5(ALG1):c.398_399insCA (p.Gly134fs)
|
rs1956891979
|
|
NM_019109.5(ALG1):c.399A>G (p.Pro133=)
|
rs200506666
|
|
NM_019109.5(ALG1):c.39G>A (p.Leu13=)
|
rs751409028
|
|
NM_019109.5(ALG1):c.39G>C (p.Leu13=)
|
rs751409028
|
|
NM_019109.5(ALG1):c.40C>T (p.Leu14=)
|
|
|
NM_019109.5(ALG1):c.40_41insAGCTGC (p.Leu13_Leu14insGlnLeu)
|
|
|
NM_019109.5(ALG1):c.415G>A (p.Ala139Thr)
|
|
|
NM_019109.5(ALG1):c.415G>T (p.Ala139Ser)
|
|
|
NM_019109.5(ALG1):c.42G>T (p.Leu14=)
|
|
|
NM_019109.5(ALG1):c.434G>A (p.Gly145Asp)
|
rs387906926
|
|
NM_019109.5(ALG1):c.437G>C (p.Cys146Ser)
|
rs1956892771
|
|
NM_019109.5(ALG1):c.43C>T (p.Leu15=)
|
|
|
NM_019109.5(ALG1):c.440T>A (p.Leu147His)
|
|
|
NM_019109.5(ALG1):c.450C>A (p.Ser150Arg)
|
rs121908340
|
|
NM_019109.5(ALG1):c.456C>T (p.Leu152=)
|
rs764878109
|
|
NM_019109.5(ALG1):c.468G>C (p.Trp156Cys)
|
rs2142707214
|
|
NM_019109.5(ALG1):c.47_58dup (p.Pro16_Leu19dup)
|
rs1414667961
|
|
NM_019109.5(ALG1):c.486dup (p.Ile163fs)
|
|
|
NM_019109.5(ALG1):c.487A>T (p.Ile163Phe)
|
rs2142707280
|
|
NM_019109.5(ALG1):c.493G>C (p.Gly165Arg)
|
rs1192356042
|
|
NM_019109.5(ALG1):c.494G>C (p.Gly165Ala)
|
|
|
NM_019109.5(ALG1):c.494G>T (p.Gly165Val)
|
|
|
NM_019109.5(ALG1):c.496C>T (p.Leu166=)
|
|
|
NM_019109.5(ALG1):c.49C>T (p.Leu17=)
|
|
|
NM_019109.5(ALG1):c.49CTG[5] (p.Leu20dup)
|
rs760240522
|
|
NM_019109.5(ALG1):c.506G>A (p.Gly169Asp)
|
rs2142707365
|
|
NM_019109.5(ALG1):c.507C>T (p.Gly169=)
|
|
|
NM_019109.5(ALG1):c.512dup (p.Asn171fs)
|
|
|
NM_019109.5(ALG1):c.514C>A (p.His172Asn)
|
|
|
NM_019109.5(ALG1):c.514C>T (p.His172Tyr)
|
|
|
NM_019109.5(ALG1):c.523G>A (p.Val175Ile)
|
|
|
NM_019109.5(ALG1):c.523G>T (p.Val175Phe)
|
rs762783729
|
|
NM_019109.5(ALG1):c.525T>G (p.Val175=)
|
|
|
NM_019109.5(ALG1):c.529C>G (p.Leu177Val)
|
rs200194917
|
|
NM_019109.5(ALG1):c.531G>T (p.Leu177=)
|
|
|
NM_019109.5(ALG1):c.534C>T (p.Ala178=)
|
|
|
NM_019109.5(ALG1):c.539+10T>C
|
|
|
NM_019109.5(ALG1):c.539+19G>A
|
|
|
NM_019109.5(ALG1):c.539+1G>A
|
|
|
NM_019109.5(ALG1):c.539+20G>A
|
|
|
NM_019109.5(ALG1):c.539+7G>T
|
|
|
NM_019109.5(ALG1):c.539+9C>G
|
|
|
NM_019109.5(ALG1):c.539_539+1delinsTC
|
|
|
NM_019109.5(ALG1):c.53T>C (p.Leu18Pro)
|
|
|
NM_019109.5(ALG1):c.540-14A>T
|
rs750808125
|
|
NM_019109.5(ALG1):c.540-20C>G
|
|
|
NM_019109.5(ALG1):c.540-2A>T
|
|
|
NM_019109.5(ALG1):c.540-8C>T
|
rs2142712041
|
|
NM_019109.5(ALG1):c.543C>G (p.Tyr181Ter)
|
|
|
NM_019109.5(ALG1):c.54G>A (p.Leu18=)
|
|
|
NM_019109.5(ALG1):c.558G>T (p.Gly186=)
|
|
|
NM_019109.5(ALG1):c.559C>T (p.Arg187Cys)
|
|
|
NM_019109.5(ALG1):c.55C>T (p.Leu19=)
|
|
|
NM_019109.5(ALG1):c.562C>A (p.Leu188Met)
|
|
|
NM_019109.5(ALG1):c.562C>T (p.Leu188=)
|
rs2142712145
|
|
NM_019109.5(ALG1):c.564G>C (p.Leu188=)
|
|
|
NM_019109.5(ALG1):c.564G>T (p.Leu188=)
|
|
|
NM_019109.5(ALG1):c.567C>T (p.Ser189=)
|
|
|
NM_019109.5(ALG1):c.568C>A (p.His190Asn)
|
rs771904667
|
|
NM_019109.5(ALG1):c.577C>T (p.Leu193=)
|
|
|
NM_019109.5(ALG1):c.580T>C (p.Cys194Arg)
|
|
|
NM_019109.5(ALG1):c.583G>T (p.Val195Phe)
|
rs2142712225
|
|
NM_019109.5(ALG1):c.588C>G (p.Thr196=)
|
|
|
NM_019109.5(ALG1):c.590A>C (p.Asn197Thr)
|
|
|
NM_019109.5(ALG1):c.591T>A (p.Asn197Lys)
|
rs1956934637
|
|
NM_019109.5(ALG1):c.593C>G (p.Ala198Gly)
|
|
|
NM_019109.5(ALG1):c.602A>C (p.Glu201Ala)
|
|
|
NM_019109.5(ALG1):c.604G>T (p.Asp202Tyr)
|
rs1239003111
|
|
NM_019109.5(ALG1):c.609G>C (p.Leu203=)
|
|
|
NM_019109.5(ALG1):c.612G>A (p.Ala204=)
|
|
|
NM_019109.5(ALG1):c.61G>T (p.Gly21Ter)
|
|
|
NM_019109.5(ALG1):c.624C>T (p.His208=)
|
|
|
NM_019109.5(ALG1):c.629+11C>G
|
|
|
NM_019109.5(ALG1):c.629+13G>A
|
|
|
NM_019109.5(ALG1):c.629+16A>G
|
|
|
NM_019109.5(ALG1):c.629+17T>C
|
|
|
NM_019109.5(ALG1):c.629+17_629+32dup
|
|
|
NM_019109.5(ALG1):c.629+19A>G
|
|
|
NM_019109.5(ALG1):c.629+20_629+34del
|
|
|
NM_019109.5(ALG1):c.629+7T>C
|
|
|
NM_019109.5(ALG1):c.629+9G>T
|
|
|
NM_019109.5(ALG1):c.630-13G>A
|
rs559171127
|
|
NM_019109.5(ALG1):c.630-13G>C
|
rs559171127
|
|
NM_019109.5(ALG1):c.630-16C>T
|
|
|
NM_019109.5(ALG1):c.630-18G>A
|
rs545873278
|
|
NM_019109.5(ALG1):c.630-18G>T
|
|
|
NM_019109.5(ALG1):c.630-19C>A
|
|
|
NM_019109.5(ALG1):c.630-19C>T
|
rs371014838
|
|
NM_019109.5(ALG1):c.630-20C>T
|
|
|
NM_019109.5(ALG1):c.630-2A>G
|
|
|
NM_019109.5(ALG1):c.630-5T>C
|
|
|
NM_019109.5(ALG1):c.630-7A>G
|
|
|
NM_019109.5(ALG1):c.639C>A (p.Thr213=)
|
|
|
NM_019109.5(ALG1):c.645C>G (p.Tyr215Ter)
|
|
|
NM_019109.5(ALG1):c.645C>T (p.Tyr215=)
|
|
|
NM_019109.5(ALG1):c.654C>A (p.Pro218=)
|
|
|
NM_019109.5(ALG1):c.654C>G (p.Pro218=)
|
|
|
NM_019109.5(ALG1):c.657A>T (p.Ala219=)
|
|
|
NM_019109.5(ALG1):c.672G>A (p.Glu224=)
|
|
|
NM_019109.5(ALG1):c.677C>G (p.Pro226Arg)
|
|
|
NM_019109.5(ALG1):c.679C>G (p.Leu227Val)
|
|
|
NM_019109.5(ALG1):c.684C>T (p.Asp228=)
|
|
|
NM_019109.5(ALG1):c.687G>A (p.Leu229=)
|
|
|
NM_019109.5(ALG1):c.696G>T (p.Arg232=)
|
|
|
NM_019109.5(ALG1):c.699C>G (p.Leu233=)
|
|
|
NM_019109.5(ALG1):c.6G>T (p.Ala2=)
|
rs1340289136
|
|
NM_019109.5(ALG1):c.702C>T (p.Phe234=)
|
|
|
NM_019109.5(ALG1):c.710del (p.Leu237fs)
|
|
|
NM_019109.5(ALG1):c.711_726del (p.Gly238fs)
|
rs756236917
|
|
NM_019109.5(ALG1):c.717C>T (p.Ser239=)
|
rs1956945310
|
|
NM_019109.5(ALG1):c.729G>A (p.Pro243=)
|
|
|
NM_019109.5(ALG1):c.739del (p.Arg247fs)
|
|
|
NM_019109.5(ALG1):c.73C>T (p.Arg25Cys)
|
rs1956823060
|
|
NM_019109.5(ALG1):c.740+10C>T
|
|
|
NM_019109.5(ALG1):c.740+16T>A
|
|
|
NM_019109.5(ALG1):c.740+1G>A
|
|
|
NM_019109.5(ALG1):c.740+20C>T
|
|
|
NM_019109.5(ALG1):c.740+6C>T
|
|
|
NM_019109.5(ALG1):c.740G>T (p.Arg247Leu)
|
|
|
NM_019109.5(ALG1):c.740_740+5delinsTGTAGA
|
|
|
NM_019109.5(ALG1):c.741-12C>G
|
|
|
NM_019109.5(ALG1):c.741-12dup
|
|
|
NM_019109.5(ALG1):c.741-13del
|
rs749328532
|
|
NM_019109.5(ALG1):c.741-13dup
|
|
|
NM_019109.5(ALG1):c.741-15T>C
|
|
|
NM_019109.5(ALG1):c.741-20C>T
|
|
|
NM_019109.5(ALG1):c.741-6C>T
|
|
|
NM_019109.5(ALG1):c.741-8T>C
|
|
|
NM_019109.5(ALG1):c.741-9C>T
|
|
|
NM_019109.5(ALG1):c.743C>G (p.Ser248Ter)
|
|
|
NM_019109.5(ALG1):c.750T>G (p.Pro250=)
|
|
|
NM_019109.5(ALG1):c.756C>G (p.Asp252Glu)
|
|
|
NM_019109.5(ALG1):c.756C>T (p.Asp252=)
|
rs776990267
|
|
NM_019109.5(ALG1):c.762C>G (p.Val254=)
|
|
|
NM_019109.5(ALG1):c.768G>A (p.Glu256=)
|
|
|
NM_019109.5(ALG1):c.772_789dup (p.Ser258_Arg263dup)
|
rs1331794136
|
|
NM_019109.5(ALG1):c.774G>A (p.Ser258=)
|
|
|
NM_019109.5(ALG1):c.783G>A (p.Thr261=)
|
|
|
NM_019109.5(ALG1):c.786del (p.Glu262fs)
|
|
|
NM_019109.5(ALG1):c.788G>A (p.Arg263Gln)
|
rs1308969550
|
|
NM_019109.5(ALG1):c.791_804del (p.Asp264fs)
|
rs2142715856
|
|
NM_019109.5(ALG1):c.792T>C (p.Asp264=)
|
|
|
NM_019109.5(ALG1):c.801C>T (p.Ser267=)
|
rs770104406
|
|
NM_019109.5(ALG1):c.802G>T (p.Gly268Trp)
|
|
|
NM_019109.5(ALG1):c.809_832del (p.Val270_Pro277del)
|
rs1206167331
|
|
NM_019109.5(ALG1):c.813G>A (p.Thr271=)
|
|
|
NM_019109.5(ALG1):c.817C>G (p.Leu273Val)
|
|
|
NM_019109.5(ALG1):c.819C>G (p.Leu273=)
|
|
|
NM_019109.5(ALG1):c.819C>T (p.Leu273=)
|
rs1292939104
|
|
NM_019109.5(ALG1):c.823G>C (p.Glu275Gln)
|
|
|
NM_019109.5(ALG1):c.828G>A (p.Arg276=)
|
rs2142716095
|
|
NM_019109.5(ALG1):c.832G>A (p.Ala278Thr)
|
rs1364564952
|
|
NM_019109.5(ALG1):c.834C>T (p.Ala278=)
|
|
|
NM_019109.5(ALG1):c.835C>G (p.Leu279Val)
|
rs1057520106
|
|
NM_019109.5(ALG1):c.835C>T (p.Leu279=)
|
|
|
NM_019109.5(ALG1):c.837G>C (p.Leu279=)
|
|
|
NM_019109.5(ALG1):c.83G>C (p.Arg28Pro)
|
|
|
NM_019109.5(ALG1):c.851C>T (p.Thr284Met)
|
|
|
NM_019109.5(ALG1):c.852G>A (p.Thr284=)
|
|
|
NM_019109.5(ALG1):c.862+12C>T
|
|
|
NM_019109.5(ALG1):c.863-10C>T
|
|
|
NM_019109.5(ALG1):c.863-11T>C
|
|
|
NM_019109.5(ALG1):c.863-12C>G
|
|
|
NM_019109.5(ALG1):c.863-15A>C
|
rs371947976
|
|
NM_019109.5(ALG1):c.863-15A>T
|
|
|
NM_019109.5(ALG1):c.863-17C>A
|
|
|
NM_019109.5(ALG1):c.863-17C>G
|
|
|
NM_019109.5(ALG1):c.863-3T>A
|
|
|
NM_019109.5(ALG1):c.863-3T>C
|
rs1208866677
|
|
NM_019109.5(ALG1):c.863-8T>C
|
|
|
NM_019109.5(ALG1):c.872A>G (p.Asp291Gly)
|
rs192564717
|
|
NM_019109.5(ALG1):c.872A>T (p.Asp291Val)
|
rs192564717
|
|
NM_019109.5(ALG1):c.873C>G (p.Asp291Glu)
|
|
|
NM_019109.5(ALG1):c.875del (p.Phe292fs)
|
|
|
NM_019109.5(ALG1):c.876C>G (p.Phe292Leu)
|
rs1009298200
|
|
NM_019109.5(ALG1):c.877T>C (p.Ser293Pro)
|
rs1555452127
|
|
NM_019109.5(ALG1):c.877_879del (p.Ser293del)
|
rs776453756
|
|
NM_019109.5(ALG1):c.878C>G (p.Ser293Cys)
|
rs1421613066
|
|
NM_019109.5(ALG1):c.879C>T (p.Ser293=)
|
|
|
NM_019109.5(ALG1):c.87G>T (p.Gly29=)
|
rs754060914
|
|
NM_019109.5(ALG1):c.87_91del (p.Arg30fs)
|
|
|
NM_019109.5(ALG1):c.883C>T (p.Leu295=)
|
|
|
NM_019109.5(ALG1):c.885G>C (p.Leu295=)
|
|
|
NM_019109.5(ALG1):c.885G>T (p.Leu295=)
|
|
|
NM_019109.5(ALG1):c.889G>T (p.Ala297Ser)
|
rs2142716887
|
|
NM_019109.5(ALG1):c.88C>A (p.Arg30=)
|
|
|
NM_019109.5(ALG1):c.898G>T (p.Glu300Ter)
|
|
|
NM_019109.5(ALG1):c.901+13C>T
|
|
|
NM_019109.5(ALG1):c.901+16C>T
|
|
|
NM_019109.5(ALG1):c.901+17G>A
|
|
|
NM_019109.5(ALG1):c.901+18G>C
|
|
|
NM_019109.5(ALG1):c.901+18G>T
|
|
|
NM_019109.5(ALG1):c.901+20G>T
|
|
|
NM_019109.5(ALG1):c.901+5G>T
|
|
|
NM_019109.5(ALG1):c.901A>C (p.Lys301Gln)
|
rs753600353
|
|
NM_019109.5(ALG1):c.901A>G (p.Lys301Glu)
|
rs753600353
|
|
NM_019109.5(ALG1):c.902-10C>G
|
|
|
NM_019109.5(ALG1):c.902-16C>G
|
|
|
NM_019109.5(ALG1):c.902-17T>C
|
|
|
NM_019109.5(ALG1):c.902-20G>C
|
|
|
NM_019109.5(ALG1):c.902-5C>T
|
rs1956983341
|
|
NM_019109.5(ALG1):c.902-8A>G
|
|
|
NM_019109.5(ALG1):c.912A>G (p.Gln304=)
|
|
|
NM_019109.5(ALG1):c.91del (p.Ala31fs)
|
|
|
NM_019109.5(ALG1):c.920_921del (p.Leu307fs)
|
|
|
NM_019109.5(ALG1):c.921T>C (p.Leu307=)
|
|
|
NM_019109.5(ALG1):c.921T>G (p.Leu307=)
|
|
|
NM_019109.5(ALG1):c.927A>G (p.Gly309=)
|
|
|
NM_019109.5(ALG1):c.930C>T (p.His310=)
|
|
|
NM_019109.5(ALG1):c.931A>G (p.Asn311Asp)
|
|
|
NM_019109.5(ALG1):c.946G>A (p.Val316Ile)
|
rs150272167
|
|
NM_019109.5(ALG1):c.946G>C (p.Val316Leu)
|
|
|
NM_019109.5(ALG1):c.950G>C (p.Cys317Ser)
|
rs373396169
|
|
NM_019109.5(ALG1):c.950G>T (p.Cys317Phe)
|
|
|
NM_019109.5(ALG1):c.951T>C (p.Cys317=)
|
|
|
NM_019109.5(ALG1):c.954G>A (p.Val318=)
|
rs1291495506
|
|
NM_019109.5(ALG1):c.954G>C (p.Val318=)
|
|
|
NM_019109.5(ALG1):c.95C>A (p.Ala32Asp)
|
rs376723766
|
|
NM_019109.5(ALG1):c.961+14C>A
|
|
|
NM_019109.5(ALG1):c.961+16C>G
|
|
|
NM_019109.5(ALG1):c.961+19G>T
|
|
|
NM_019109.5(ALG1):c.961+1G>A
|
|
|
NM_019109.5(ALG1):c.961+1G>C
|
rs373355236
|
|
NM_019109.5(ALG1):c.961+20G>A
|
|
|
NM_019109.5(ALG1):c.961+4C>G
|
rs2142718757
|
|
NM_019109.5(ALG1):c.961+8C>G
|
rs371353008
|
|
NM_019109.5(ALG1):c.961+8C>T
|
rs371353008
|
|
NM_019109.5(ALG1):c.961+9T>C
|
|
|
NM_019109.5(ALG1):c.962-12T>C
|
|
|
NM_019109.5(ALG1):c.962-18C>T
|
|
|
NM_019109.5(ALG1):c.964A>C (p.Lys322Gln)
|
|
|
NM_019109.5(ALG1):c.965A>T (p.Lys322Ile)
|
rs145851409
|
|
NM_019109.5(ALG1):c.969G>A (p.Gly323=)
|
|
|
NM_019109.5(ALG1):c.969G>T (p.Gly323=)
|
|
|
NM_019109.5(ALG1):c.969del (p.Pro324fs)
|
|
|
NM_019109.5(ALG1):c.96C>A (p.Ala32=)
|
|
|
NM_019109.5(ALG1):c.96C>G (p.Ala32=)
|
|
|
NM_019109.5(ALG1):c.970C>G (p.Pro324Ala)
|
|
|
NM_019109.5(ALG1):c.975G>C (p.Leu325=)
|
|
|
NM_019109.5(ALG1):c.977G>C (p.Arg326Thr)
|
|
|
NM_019109.5(ALG1):c.979G>A (p.Glu327Lys)
|
|
|
NM_019109.5(ALG1):c.97C>A (p.Arg33=)
|
|
|
NM_019109.5(ALG1):c.97C>T (p.Arg33Trp)
|
|
|
NM_019109.5(ALG1):c.981G>A (p.Glu327=)
|
|
|
NM_019109.5(ALG1):c.987T>C (p.Tyr329=)
|
|
|
NM_019109.5(ALG1):c.988A>G (p.Ser330Gly)
|
rs764029645
|
|
NM_019109.5(ALG1):c.994C>G (p.Leu332Val)
|
rs1957007425
|
|
NM_019109.5(ALG1):c.996C>T (p.Leu332=)
|
|
|
NM_019109.5(ALG1):c.9C>T (p.Ala3=)
|
|
|
NM_021645.6(UTP14C):c.-193G>T
|
rs1954265263
|
|
NM_021645.6(UTP14C):c.-486-14G>T
|
rs752238208
|
|
NM_021645.6(UTP14C):c.-486-7T>C
|
rs2140846961
|
|
NM_021645.6(UTP14C):c.1781T>C (p.Ile594Thr)
|
|
|
NM_021645.6(UTP14C):c.83G>A (p.Ser28Asn)
|
rs886050314
|
|
NM_024079.5(ALG8):c.1020C>T (p.Cys340=)
|
|
|
NM_024079.5(ALG8):c.1028T>C (p.Ile343Thr)
|
|
|
NM_024079.5(ALG8):c.1038+16A>G
|
|
|
NM_024079.5(ALG8):c.1039-19C>G
|
|
|
NM_024079.5(ALG8):c.103A>G (p.Thr35Ala)
|
|
|
NM_024079.5(ALG8):c.1116C>T (p.Ser372=)
|
|
|
NM_024079.5(ALG8):c.1123A>G (p.Met375Val)
|
|
|
NM_024079.5(ALG8):c.115G>T (p.Val39Leu)
|
|
|
NM_024079.5(ALG8):c.1162G>C (p.Ala388Pro)
|
|
|
NM_024079.5(ALG8):c.1168C>A (p.Leu390Ile)
|
|
|
NM_024079.5(ALG8):c.1219_1220del (p.Leu407fs)
|
rs2136876881
|
|
NM_024079.5(ALG8):c.121C>T (p.Arg41Ter)
|
rs200888240
|
|
NM_024079.5(ALG8):c.1227G>C (p.Leu409=)
|
rs1590803789
|
|
NM_024079.5(ALG8):c.1274C>A (p.Pro425Gln)
|
|
|
NM_024079.5(ALG8):c.1277-10_1277-8del
|
rs764468497
|
|
NM_024079.5(ALG8):c.1277-16del
|
|
|
NM_024079.5(ALG8):c.1293C>G (p.Ile431Met)
|
rs376704970
|
|
NM_024079.5(ALG8):c.1298_1334dup (p.Leu445_Lys446insHisValThrIleHisHisIleTer)
|
|
|
NM_024079.5(ALG8):c.1301T>G (p.Met434Arg)
|
|
|
NM_024079.5(ALG8):c.1328C>T (p.Ser443Leu)
|
|
|
NM_024079.5(ALG8):c.1347C>T (p.Phe449=)
|
|
|
NM_024079.5(ALG8):c.1353dup (p.Glu452fs)
|
|
|
NM_024079.5(ALG8):c.1356A>G (p.Glu452=)
|
|
|
NM_024079.5(ALG8):c.1369A>G (p.Asn457Asp)
|
rs2136868764
|
|
NM_024079.5(ALG8):c.136A>G (p.Ile46Val)
|
|
|
NM_024079.5(ALG8):c.1386C>T (p.Phe462=)
|
|
|
NM_024079.5(ALG8):c.1393C>T (p.Leu465Phe)
|
rs2136868701
|
|
NM_024079.5(ALG8):c.139A>C (p.Thr47Pro)
|
rs121908293
|
|
NM_024079.5(ALG8):c.141_144del (p.His48fs)
|
|
|
NM_024079.5(ALG8):c.1429G>C (p.Val477Leu)
|
rs769413308
|
|
NM_024079.5(ALG8):c.143A>G (p.His48Arg)
|
rs1861126453
|
|
NM_024079.5(ALG8):c.1443C>G (p.Thr481=)
|
rs746756065
|
|
NM_024079.5(ALG8):c.1443C>T (p.Thr481=)
|
|
|
NM_024079.5(ALG8):c.1463C>G (p.Pro488Arg)
|
rs758549233
|
|
NM_024079.5(ALG8):c.1467C>T (p.Phe489=)
|
|
|
NM_024079.5(ALG8):c.1485C>G (p.Thr495=)
|
|
|
NM_024079.5(ALG8):c.1511C>G (p.Thr504Arg)
|
rs2136868362
|
|
NM_024079.5(ALG8):c.1533T>A (p.Tyr511Ter)
|
rs1859771094
|
|
NM_024079.5(ALG8):c.1540G>A (p.Val514Ile)
|
|
|
NM_024079.5(ALG8):c.1554T>C (p.Ser518=)
|
|
|
NM_024079.5(ALG8):c.174+2del
|
|
|
NM_024079.5(ALG8):c.174+30del
|
rs59662312
|
|
NM_024079.5(ALG8):c.191C>T (p.Thr64Met)
|
|
|
NM_024079.5(ALG8):c.192G>A (p.Thr64=)
|
|
|
NM_024079.5(ALG8):c.19G>A (p.Ala7Thr)
|
rs1861709687
|
|
NM_024079.5(ALG8):c.206C>T (p.Pro69Leu)
|
rs748962880
|
|
NM_024079.5(ALG8):c.230T>C (p.Ile77Thr)
|
|
|
NM_024079.5(ALG8):c.259C>T (p.Gln87Ter)
|
|
|
NM_024079.5(ALG8):c.320G>T (p.Arg107Ile)
|
|
|
NM_024079.5(ALG8):c.345A>C (p.Val115=)
|
|
|
NM_024079.5(ALG8):c.354G>A (p.Val118=)
|
|
|
NM_024079.5(ALG8):c.364C>T (p.Arg122Cys)
|
|
|
NM_024079.5(ALG8):c.368+13C>A
|
|
|
NM_024079.5(ALG8):c.368+16G>T
|
|
|
NM_024079.5(ALG8):c.368+1G>A
|
|
|
NM_024079.5(ALG8):c.369-6A>G
|
rs201483866
|
|
NM_024079.5(ALG8):c.389G>A (p.Gly130Glu)
|
|
|
NM_024079.5(ALG8):c.396dup (p.Val133fs)
|
rs753631154
|
|
NM_024079.5(ALG8):c.413del (p.Thr138fs)
|
rs387906277
|
|
NM_024079.5(ALG8):c.435G>A (p.Leu145=)
|
|
|
NM_024079.5(ALG8):c.438G>A (p.Ser146=)
|
|
|
NM_024079.5(ALG8):c.441A>G (p.Val147=)
|
|
|
NM_024079.5(ALG8):c.441A>T (p.Val147=)
|
rs112109685
|
|
NM_024079.5(ALG8):c.446T>C (p.Leu149Pro)
|
|
|
NM_024079.5(ALG8):c.478+6C>T
|
|
|
NM_024079.5(ALG8):c.478C>T (p.His160Tyr)
|
|
|
NM_024079.5(ALG8):c.479A>T (p.His160Leu)
|
rs2136915887
|
|
NM_024079.5(ALG8):c.482T>C (p.Ile161Thr)
|
|
|
NM_024079.5(ALG8):c.504T>C (p.Phe168=)
|
|
|
NM_024079.5(ALG8):c.517A>G (p.Met173Val)
|
rs146425128
|
|
NM_024079.5(ALG8):c.52G>T (p.Ala18Ser)
|
|
|
NM_024079.5(ALG8):c.54G>T (p.Ala18=)
|
|
|
NM_024079.5(ALG8):c.552G>T (p.Arg184Ser)
|
|
|
NM_024079.5(ALG8):c.554A>G (p.His185Arg)
|
|
|
NM_024079.5(ALG8):c.568T>G (p.Phe190Val)
|
rs1860461907
|
|
NM_024079.5(ALG8):c.588A>G (p.Leu196=)
|
rs562915665
|
|
NM_024079.5(ALG8):c.608T>G (p.Leu203Arg)
|
|
|
NM_024079.5(ALG8):c.622G>A (p.Ala208Thr)
|
|
|
NM_024079.5(ALG8):c.643C>A (p.Arg215=)
|
|
|
NM_024079.5(ALG8):c.644G>A (p.Arg215Gln)
|
|
|
NM_024079.5(ALG8):c.647C>G (p.Ser216Cys)
|
rs886048687
|
|
NM_024079.5(ALG8):c.671C>A (p.Pro224Gln)
|
|
|
NM_024079.5(ALG8):c.674-20A>C
|
|
|
NM_024079.5(ALG8):c.709C>T (p.Arg237Cys)
|
|
|
NM_024079.5(ALG8):c.739T>C (p.Leu247=)
|
|
|
NM_024079.5(ALG8):c.743T>C (p.Val248Ala)
|
|
|
NM_024079.5(ALG8):c.757T>C (p.Leu253=)
|
|
|
NM_024079.5(ALG8):c.757T>G (p.Leu253Val)
|
|
|
NM_024079.5(ALG8):c.761dup (p.Pro255fs)
|
rs968741434
|
|
NM_024079.5(ALG8):c.772G>A (p.Ala258Thr)
|
rs1860433537
|
|
NM_024079.5(ALG8):c.793G>A (p.Val265Ile)
|
|
|
NM_024079.5(ALG8):c.799T>C (p.Ser267Pro)
|
|
|
NM_024079.5(ALG8):c.802del (p.Arg268fs)
|
rs2136899636
|
|
NM_024079.5(ALG8):c.808T>C (p.Phe270Leu)
|
|
|
NM_024079.5(ALG8):c.824G>A (p.Gly275Asp)
|
rs121908294
|
|
NM_024079.5(ALG8):c.824G>T (p.Gly275Val)
|
|
|
NM_024079.5(ALG8):c.824del (p.Gly275fs)
|
|
|
NM_024079.5(ALG8):c.830_831delinsCA (p.Cys277Ser)
|
rs1565349263
|
|
NM_024079.5(ALG8):c.856T>G (p.Trp286Gly)
|
rs794727931
|
|
NM_024079.5(ALG8):c.859G>A (p.Ala287Thr)
|
|
|
NM_024079.5(ALG8):c.898+10C>T
|
|
|
NM_024079.5(ALG8):c.899-13A>T
|
|
|
NM_024079.5(ALG8):c.903G>C (p.Leu301Phe)
|
|
|
NM_024079.5(ALG8):c.922C>T (p.Pro308Ser)
|
|
|
NM_024079.5(ALG8):c.96-15A>G
|
|
|
NM_024079.5(ALG8):c.96-2A>G
|
rs1555073109
|
|
NM_024079.5(ALG8):c.96-6G>A
|
rs199911532
|
|
NM_024079.5(ALG8):c.96-9T>G
|
|
|
NM_024079.5(ALG8):c.97C>T (p.His33Tyr)
|
|
|
NM_024079.5(ALG8):c.982G>A (p.Val328Ile)
|
rs2136891638
|
|
NM_024079.5(ALG8):c.993A>T (p.Ser331=)
|
rs758856513
|
|
NM_024105.4(ALG12):c.*131C>A
|
rs2060526664
|
|
NM_024105.4(ALG12):c.*250C>T
|
rs1329225644
|
|
NM_024105.4(ALG12):c.*484C>A
|
rs77163946
|
|
NM_024105.4(ALG12):c.*486C>A
|
rs1324817015
|
|
NM_024105.4(ALG12):c.-203G>A
|
rs9616379
|
|
NM_024105.4(ALG12):c.-203G>C
|
rs9616379
|
|
NM_024105.4(ALG12):c.-231T>G
|
rs886057617
|
|
NM_024105.4(ALG12):c.-43C>T
|
rs886057615
|
|
NM_024105.4(ALG12):c.1001del (p.Asn334fs)
|
rs759244819
|
|
NM_024105.4(ALG12):c.1008A>C (p.Lys336Asn)
|
|
|
NM_024105.4(ALG12):c.1023C>T (p.Tyr341=)
|
|
|
NM_024105.4(ALG12):c.1024A>C (p.Lys342Gln)
|
|
|
NM_024105.4(ALG12):c.1030G>A (p.Gly344Arg)
|
rs2147580583
|
|
NM_024105.4(ALG12):c.1032G>T (p.Gly344=)
|
rs2147580579
|
|
NM_024105.4(ALG12):c.1033T>C (p.Ser345Pro)
|
rs2147580574
|
|
NM_024105.4(ALG12):c.1041T>C (p.Leu347=)
|
rs2147580566
|
|
NM_024105.4(ALG12):c.1047C>G (p.Ile349Met)
|
rs182006999
|
|
NM_024105.4(ALG12):c.1047C>T (p.Ile349=)
|
rs182006999
|
|
NM_024105.4(ALG12):c.1050A>G (p.Gly350=)
|
|
|
NM_024105.4(ALG12):c.1056C>T (p.Leu352=)
|
|
|
NM_024105.4(ALG12):c.1057G>C (p.Val353Leu)
|
|
|
NM_024105.4(ALG12):c.105G>A (p.Glu35=)
|
|
|
NM_024105.4(ALG12):c.1067C>T (p.Ala356Val)
|
rs866503885
|
|
NM_024105.4(ALG12):c.1069G>A (p.Ala357Thr)
|
|
|
NM_024105.4(ALG12):c.1083G>A (p.Thr361=)
|
|
|
NM_024105.4(ALG12):c.1127T>C (p.Met376Thr)
|
|
|
NM_024105.4(ALG12):c.1129C>T (p.Gln377Ter)
|
|
|
NM_024105.4(ALG12):c.1135C>G (p.Leu379Val)
|
rs887422058
|
|
NM_024105.4(ALG12):c.1141C>G (p.Gln381Glu)
|
|
|
NM_024105.4(ALG12):c.1149G>A (p.Val383=)
|
rs778616092
|
|
NM_024105.4(ALG12):c.1150C>T (p.Pro384Ser)
|
|
|
NM_024105.4(ALG12):c.1152C>T (p.Pro384=)
|
|
|
NM_024105.4(ALG12):c.1156C>G (p.Gln386Glu)
|
|
|
NM_024105.4(ALG12):c.1156dup (p.Gln386fs)
|
rs770711819
|
|
NM_024105.4(ALG12):c.1163-13C>T
|
|
|
NM_024105.4(ALG12):c.1163-20G>A
|
|
|
NM_024105.4(ALG12):c.1163-4C>T
|
|
|
NM_024105.4(ALG12):c.1163-9T>C
|
rs2060530812
|
|
NM_024105.4(ALG12):c.1171C>T (p.Leu391=)
|
|
|
NM_024105.4(ALG12):c.1176C>T (p.His392=)
|
|
|
NM_024105.4(ALG12):c.1183G>C (p.Val395Leu)
|
|
|
NM_024105.4(ALG12):c.1191C>T (p.Ala397=)
|
|
|
NM_024105.4(ALG12):c.1221A>G (p.Gln407=)
|
|
|
NM_024105.4(ALG12):c.1238+12_1238+24del
|
|
|
NM_024105.4(ALG12):c.1238+14A>C
|
|
|
NM_024105.4(ALG12):c.1238+18C>G
|
rs753109798
|
|
NM_024105.4(ALG12):c.1238+5G>T
|
|
|
NM_024105.4(ALG12):c.1238+7T>G
|
rs756526998
|
|
NM_024105.4(ALG12):c.1239-17C>A
|
rs2147579777
|
|
NM_024105.4(ALG12):c.1239-8T>C
|
|
|
NM_024105.4(ALG12):c.1242C>G (p.Tyr414Ter)
|
rs121907935
|
|
NM_024105.4(ALG12):c.1258G>A (p.Val420Met)
|
|
|
NM_024105.4(ALG12):c.1263G>C (p.Gln421His)
|
|
|
NM_024105.4(ALG12):c.1264C>G (p.Pro422Ala)
|
|
|
NM_024105.4(ALG12):c.1266G>A (p.Pro422=)
|
rs771112093
|
|
NM_024105.4(ALG12):c.1272A>C (p.Thr424=)
|
|
|
NM_024105.4(ALG12):c.1274G>T (p.Gly425Val)
|
|
|
NM_024105.4(ALG12):c.1280T>C (p.Leu427Pro)
|
|
|
NM_024105.4(ALG12):c.1284A>G (p.Ala428=)
|
|
|
NM_024105.4(ALG12):c.1287C>T (p.Tyr429=)
|
|
|
NM_024105.4(ALG12):c.1288A>C (p.Thr430Pro)
|
rs878852984
|
|
NM_024105.4(ALG12):c.1302G>A (p.Met434Ile)
|
rs781494329
|
|
NM_024105.4(ALG12):c.1307C>T (p.Ala436Val)
|
|
|
NM_024105.4(ALG12):c.1308G>T (p.Ala436=)
|
|
|
NM_024105.4(ALG12):c.1317G>A (p.Gly439=)
|
|
|
NM_024105.4(ALG12):c.1326C>G (p.Ala442=)
|
|
|
NM_024105.4(ALG12):c.1328T>C (p.Leu443Pro)
|
|
|
NM_024105.4(ALG12):c.1330T>C (p.Tyr444His)
|
|
|
NM_024105.4(ALG12):c.1338C>T (p.Asp446=)
|
|
|
NM_024105.4(ALG12):c.133C>A (p.Leu45Met)
|
rs779888121
|
|
NM_024105.4(ALG12):c.133C>T (p.Leu45=)
|
|
|
NM_024105.4(ALG12):c.1347G>A (p.Arg449=)
|
|
|
NM_024105.4(ALG12):c.1353G>C (p.Leu451=)
|
|
|
NM_024105.4(ALG12):c.1369A>G (p.Thr457Ala)
|
|
|
NM_024105.4(ALG12):c.1386G>A (p.Leu462=)
|
|
|
NM_024105.4(ALG12):c.1404C>T (p.Pro468=)
|
|
|
NM_024105.4(ALG12):c.1414G>A (p.Val472Ile)
|
|
|
NM_024105.4(ALG12):c.1425G>A (p.Gln475=)
|
|
|
NM_024105.4(ALG12):c.1439T>C (p.Leu480Pro)
|
rs775856400
|
|
NM_024105.4(ALG12):c.1451_1459del (p.Leu484_Arg486del)
|
|
|
NM_024105.4(ALG12):c.1452C>T (p.Leu484=)
|
rs772352960
|
|
NM_024105.4(ALG12):c.1456del (p.Arg486fs)
|
rs768823564
|
|
NM_024105.4(ALG12):c.1458G>A (p.Arg486=)
|
|
|
NM_024105.4(ALG12):c.1460C>G (p.Pro487Arg)
|
|
|
NM_024105.4(ALG12):c.1463C>T (p.Ser488Phe)
|
rs2060527495
|
|
NM_024105.4(ALG12):c.1466G>A (p.Ter489=)
|
|
|
NM_024105.4(ALG12):c.1467A>C (p.Ter489Cys)
|
|
|
NM_024105.4(ALG12):c.160C>T (p.Gln54Ter)
|
|
|
NM_024105.4(ALG12):c.162+10C>A
|
|
|
NM_024105.4(ALG12):c.162+11C>T
|
|
|
NM_024105.4(ALG12):c.162+12del
|
|
|
NM_024105.4(ALG12):c.162+18T>C
|
rs2060593030
|
|
NM_024105.4(ALG12):c.163-14C>T
|
|
|
NM_024105.4(ALG12):c.163-19C>T
|
|
|
NM_024105.4(ALG12):c.163-4G>T
|
|
|
NM_024105.4(ALG12):c.163-8C>T
|
|
|
NM_024105.4(ALG12):c.165C>A (p.Tyr55Ter)
|
rs563259198
|
|
NM_024105.4(ALG12):c.168C>T (p.Asp56=)
|
|
|
NM_024105.4(ALG12):c.175G>C (p.Glu59Gln)
|
|
|
NM_024105.4(ALG12):c.180C>T (p.Phe60=)
|
rs202026974
|
|
NM_024105.4(ALG12):c.189C>A (p.Val63=)
|
|
|
NM_024105.4(ALG12):c.192C>A (p.Val64=)
|
|
|
NM_024105.4(ALG12):c.193C>T (p.Pro65Ser)
|
|
|
NM_024105.4(ALG12):c.200C>T (p.Thr67Met)
|
rs121907931
|
|
NM_024105.4(ALG12):c.201G>A (p.Thr67=)
|
|
|
NM_024105.4(ALG12):c.204C>G (p.Phe68Leu)
|
rs2060591785
|
|
NM_024105.4(ALG12):c.208G>A (p.Gly70Arg)
|
rs1208318216
|
|
NM_024105.4(ALG12):c.21_33dup (p.Leu12fs)
|
|
|
NM_024105.4(ALG12):c.222C>A (p.Ile74=)
|
|
|
NM_024105.4(ALG12):c.222C>T (p.Ile74=)
|
|
|
NM_024105.4(ALG12):c.231C>T (p.Phe77=)
|
|
|
NM_024105.4(ALG12):c.237C>A (p.Ser79Arg)
|
|
|
NM_024105.4(ALG12):c.249C>T (p.Tyr83=)
|
|
|
NM_024105.4(ALG12):c.270G>A (p.Met90Ile)
|
|
|
NM_024105.4(ALG12):c.273C>T (p.Ser91=)
|
|
|
NM_024105.4(ALG12):c.282C>T (p.Tyr94=)
|
|
|
NM_024105.4(ALG12):c.28C>T (p.Arg10Trp)
|
rs148343441
|
|
NM_024105.4(ALG12):c.294A>G (p.Ile98Met)
|
|
|
NM_024105.4(ALG12):c.295+19A>G
|
|
|
NM_024105.4(ALG12):c.295+6G>A
|
rs368352058
|
|
NM_024105.4(ALG12):c.295+6G>C
|
|
|
NM_024105.4(ALG12):c.296-18G>A
|
|
|
NM_024105.4(ALG12):c.306G>C (p.Val102=)
|
|
|
NM_024105.4(ALG12):c.30G>A (p.Arg10=)
|
rs770005800
|
|
NM_024105.4(ALG12):c.30del (p.Leu12fs)
|
|
|
NM_024105.4(ALG12):c.318C>T (p.Gly106=)
|
|
|
NM_024105.4(ALG12):c.330A>G (p.Gly110=)
|
|
|
NM_024105.4(ALG12):c.333C>G (p.Leu111=)
|
|
|
NM_024105.4(ALG12):c.336G>A (p.Trp112Ter)
|
|
|
NM_024105.4(ALG12):c.338C>T (p.Thr113Met)
|
|
|
NM_024105.4(ALG12):c.360G>T (p.Arg120=)
|
|
|
NM_024105.4(ALG12):c.363C>T (p.His121=)
|
|
|
NM_024105.4(ALG12):c.374T>C (p.Met125Thr)
|
|
|
NM_024105.4(ALG12):c.376G>A (p.Val126Met)
|
|
|
NM_024105.4(ALG12):c.378G>A (p.Val126=)
|
|
|
NM_024105.4(ALG12):c.384C>T (p.Thr128=)
|
|
|
NM_024105.4(ALG12):c.387G>A (p.Met129Ile)
|
|
|
NM_024105.4(ALG12):c.390CTG[1] (p.Cys131del)
|
|
|
NM_024105.4(ALG12):c.395G>T (p.Trp132Leu)
|
|
|
NM_024105.4(ALG12):c.406A>G (p.Met136Val)
|
|
|
NM_024105.4(ALG12):c.40C>T (p.Leu14=)
|
|
|
NM_024105.4(ALG12):c.411G>A (p.Gln137=)
|
|
|
NM_024105.4(ALG12):c.417C>T (p.His139=)
|
|
|
NM_024105.4(ALG12):c.424T>G (p.Phe142Val)
|
rs28942090
|
|
NM_024105.4(ALG12):c.424_428delinsCAGTTCCAC (p.Phe142fs)
|
|
|
NM_024105.4(ALG12):c.428A>C (p.Tyr143Ser)
|
|
|
NM_024105.4(ALG12):c.438G>A (p.Arg146=)
|
|
|
NM_024105.4(ALG12):c.439_469+19del
|
|
|
NM_024105.4(ALG12):c.441A>G (p.Thr147=)
|
|
|
NM_024105.4(ALG12):c.450T>C (p.Asn150=)
|
|
|
NM_024105.4(ALG12):c.45G>T (p.Gly15=)
|
|
|
NM_024105.4(ALG12):c.462G>A (p.Leu154=)
|
|
|
NM_024105.4(ALG12):c.462G>C (p.Leu154=)
|
|
|
NM_024105.4(ALG12):c.462G>T (p.Leu154=)
|
|
|
NM_024105.4(ALG12):c.468A>G (p.Val156=)
|
rs1221631800
|
|
NM_024105.4(ALG12):c.469+15G>T
|
|
|
NM_024105.4(ALG12):c.469G>C (p.Val157Leu)
|
|
|
NM_024105.4(ALG12):c.470-12A>G
|
rs191669043
|
|
NM_024105.4(ALG12):c.470-12A>T
|
rs191669043
|
|
NM_024105.4(ALG12):c.470-14G>A
|
|
|
NM_024105.4(ALG12):c.470-5T>C
|
|
|
NM_024105.4(ALG12):c.470-6T>C
|
|
|
NM_024105.4(ALG12):c.470-8T>C
|
rs1326072016
|
|
NM_024105.4(ALG12):c.471C>A (p.Val157=)
|
|
|
NM_024105.4(ALG12):c.472C>G (p.Leu158Val)
|
|
|
NM_024105.4(ALG12):c.473T>C (p.Leu158Pro)
|
rs121907934
|
|
NM_024105.4(ALG12):c.474G>C (p.Leu158=)
|
|
|
NM_024105.4(ALG12):c.480C>T (p.Ala160=)
|
|
|
NM_024105.4(ALG12):c.483C>T (p.Leu161=)
|
|
|
NM_024105.4(ALG12):c.484G>A (p.Ala162Thr)
|
|
|
NM_024105.4(ALG12):c.486G>C (p.Ala162=)
|
|
|
NM_024105.4(ALG12):c.48G>A (p.Leu16=)
|
rs143508665
|
|
NM_024105.4(ALG12):c.493C>T (p.Leu165=)
|
rs778040010
|
|
NM_024105.4(ALG12):c.49C>T (p.Leu17=)
|
rs2146614917
|
|
NM_024105.4(ALG12):c.502G>T (p.Glu168Ter)
|
rs754565538
|
|
NM_024105.4(ALG12):c.522G>A (p.Trp174Ter)
|
rs2146607840
|
|
NM_024105.4(ALG12):c.529G>A (p.Ala177Thr)
|
rs1186957751
|
|
NM_024105.4(ALG12):c.533T>C (p.Phe178Ser)
|
|
|
NM_024105.4(ALG12):c.543C>T (p.Ile181=)
|
|
|
NM_024105.4(ALG12):c.551G>C (p.Arg184Thr)
|
rs1358548843
|
|
NM_024105.4(ALG12):c.559C>A (p.Leu187Met)
|
|
|
NM_024105.4(ALG12):c.561G>A (p.Leu187=)
|
rs1601823586
|
|
NM_024105.4(ALG12):c.571C>T (p.Leu191=)
|
|
|
NM_024105.4(ALG12):c.580C>T (p.Leu194=)
|
rs2146607719
|
|
NM_024105.4(ALG12):c.595T>C (p.Leu199=)
|
|
|
NM_024105.4(ALG12):c.610G>A (p.Val204Ile)
|
rs779494077
|
|
NM_024105.4(ALG12):c.612T>G (p.Val204=)
|
|
|
NM_024105.4(ALG12):c.616G>A (p.Val206Ile)
|
rs534212642
|
|
NM_024105.4(ALG12):c.619G>T (p.Val207Phe)
|
|
|
NM_024105.4(ALG12):c.626C>G (p.Ala209Gly)
|
|
|
NM_024105.4(ALG12):c.630T>G (p.Leu210=)
|
|
|
NM_024105.4(ALG12):c.633C>T (p.Arg211=)
|
|
|
NM_024105.4(ALG12):c.636C>T (p.His212=)
|
|
|
NM_024105.4(ALG12):c.642C>G (p.Val214=)
|
|
|
NM_024105.4(ALG12):c.656T>G (p.Leu219Arg)
|
|
|
NM_024105.4(ALG12):c.657C>G (p.Leu219=)
|
rs2146607505
|
|
NM_024105.4(ALG12):c.664+11C>T
|
|
|
NM_024105.4(ALG12):c.664+14T>C
|
|
|
NM_024105.4(ALG12):c.664+16_664+17del
|
|
|
NM_024105.4(ALG12):c.664+1G>A
|
|
|
NM_024105.4(ALG12):c.665-11T>C
|
|
|
NM_024105.4(ALG12):c.665-17_665-16del
|
rs1473790663
|
|
NM_024105.4(ALG12):c.665-20A>T
|
|
|
NM_024105.4(ALG12):c.66T>C (p.Thr22=)
|
rs1449442041
|
|
NM_024105.4(ALG12):c.688dup (p.Tyr230fs)
|
rs1569175744
|
|
NM_024105.4(ALG12):c.698_699del (p.Arg233fs)
|
|
|
NM_024105.4(ALG12):c.718G>C (p.Gly240Arg)
|
rs2146606588
|
|
NM_024105.4(ALG12):c.719G>A (p.Gly240Glu)
|
|
|
NM_024105.4(ALG12):c.729T>C (p.Leu243=)
|
|
|
NM_024105.4(ALG12):c.72C>T (p.His24=)
|
|
|
NM_024105.4(ALG12):c.731G>A (p.Trp244Ter)
|
|
|
NM_024105.4(ALG12):c.736A>C (p.Asn246His)
|
|
|
NM_024105.4(ALG12):c.740C>T (p.Thr247Ile)
|
rs1183282596
|
|
NM_024105.4(ALG12):c.746T>C (p.Leu249Pro)
|
rs2146606524
|
|
NM_024105.4(ALG12):c.757T>C (p.Ser253Pro)
|
|
|
NM_024105.4(ALG12):c.762C>A (p.Asn254Lys)
|
rs143204935
|
|
NM_024105.4(ALG12):c.764G>T (p.Trp255Leu)
|
|
|
NM_024105.4(ALG12):c.768+14T>C
|
|
|
NM_024105.4(ALG12):c.768+14T>G
|
|
|
NM_024105.4(ALG12):c.768+1dup
|
|
|
NM_024105.4(ALG12):c.768+4_768+5insA
|
rs2146606463
|
|
NM_024105.4(ALG12):c.769-10C>G
|
rs910838469
|
|
NM_024105.4(ALG12):c.769-11C>G
|
|
|
NM_024105.4(ALG12):c.769-12C>T
|
|
|
NM_024105.4(ALG12):c.769-4G>A
|
|
|
NM_024105.4(ALG12):c.769-5C>T
|
|
|
NM_024105.4(ALG12):c.774C>G (p.Ser258=)
|
|
|
NM_024105.4(ALG12):c.789C>A (p.Tyr263Ter)
|
rs2147585338
|
|
NM_024105.4(ALG12):c.789C>T (p.Tyr263=)
|
rs2147585338
|
|
NM_024105.4(ALG12):c.800C>T (p.Ala267Val)
|
rs1287436259
|
|
NM_024105.4(ALG12):c.802C>G (p.Leu268Val)
|
|
|
NM_024105.4(ALG12):c.802C>T (p.Leu268=)
|
rs1490287472
|
|
NM_024105.4(ALG12):c.804G>A (p.Leu268=)
|
|
|
NM_024105.4(ALG12):c.804G>C (p.Leu268=)
|
rs771276914
|
|
NM_024105.4(ALG12):c.808C>T (p.Arg270Cys)
|
|
|
NM_024105.4(ALG12):c.810C>T (p.Arg270=)
|
|
|
NM_024105.4(ALG12):c.81C>T (p.Ile27=)
|
rs2146614807
|
|
NM_024105.4(ALG12):c.821G>A (p.Cys274Tyr)
|
|
|
NM_024105.4(ALG12):c.831C>G (p.Leu277=)
|
rs753341759
|
|
NM_024105.4(ALG12):c.838C>T (p.Pro280Ser)
|
|
|
NM_024105.4(ALG12):c.839C>T (p.Pro280Leu)
|
|
|
NM_024105.4(ALG12):c.840C>T (p.Pro280=)
|
|
|
NM_024105.4(ALG12):c.841C>A (p.Leu281Met)
|
rs775415771
|
|
NM_024105.4(ALG12):c.845G>A (p.Gly282Asp)
|
rs2147585166
|
|
NM_024105.4(ALG12):c.846C>T (p.Gly282=)
|
|
|
NM_024105.4(ALG12):c.85C>T (p.Pro29Ser)
|
|
|
NM_024105.4(ALG12):c.864G>T (p.Thr288=)
|
|
|
NM_024105.4(ALG12):c.866A>G (p.His289Arg)
|
|
|
NM_024105.4(ALG12):c.868G>A (p.Ala290Thr)
|
rs2060551878
|
|
NM_024105.4(ALG12):c.870G>A (p.Ala290=)
|
|
|
NM_024105.4(ALG12):c.873G>T (p.Pro291=)
|
rs200080075
|
|
NM_024105.4(ALG12):c.875C>T (p.Thr292Met)
|
|
|
NM_024105.4(ALG12):c.898G>A (p.Ala300Thr)
|
|
|
NM_024105.4(ALG12):c.902T>C (p.Leu301Pro)
|
rs1265937339
|
|
NM_024105.4(ALG12):c.903C>G (p.Leu301=)
|
|
|
NM_024105.4(ALG12):c.91A>G (p.Thr31Ala)
|
|
|
NM_024105.4(ALG12):c.925G>A (p.Glu309Lys)
|
rs2147584963
|
|
NM_024105.4(ALG12):c.930_931del (p.Arg311fs)
|
rs1569174722
|
|
NM_024105.4(ALG12):c.942C>T (p.Ile314=)
|
|
|
NM_024105.4(ALG12):c.948C>G (p.Ala316=)
|
|
|
NM_024105.4(ALG12):c.953C>T (p.Pro318Leu)
|
rs2147584901
|
|
NM_024105.4(ALG12):c.965T>A (p.Ile322Asn)
|
|
|
NM_024105.4(ALG12):c.96A>G (p.Lys32=)
|
rs2146614770
|
|
NM_024105.4(ALG12):c.981C>T (p.Gly327=)
|
|
|
NM_024105.4(ALG12):c.986C>T (p.Ser329Phe)
|
|
|
NM_024105.4(ALG12):c.992+10C>T
|
|
|
NM_024105.4(ALG12):c.993-8T>G
|
|
|
NM_024105.4(ALG12):c.995T>C (p.Leu332Pro)
|
|
|
NM_024592.4:c.(221+1_222-1)_(697+1_698-1)dup
|
|
|
NM_024592.5(SRD5A3):c.*1504A>G
|
rs188625522
|
|
NM_024592.5(SRD5A3):c.*2022A>C
|
rs1219052341
|
|
NM_024592.5(SRD5A3):c.*2090G>A
|
rs547199503
|
|
NM_024592.5(SRD5A3):c.*2193G>T
|
rs886059479
|
|
NM_024592.5(SRD5A3):c.*2256C>T
|
rs886059481
|
|
NM_024592.5(SRD5A3):c.*2437G>A
|
rs147183515
|
|
NM_024592.5(SRD5A3):c.*2437G>C
|
rs147183515
|
|
NM_024592.5(SRD5A3):c.*2950T>G
|
rs1363381757
|
|
NM_024592.5(SRD5A3):c.*622C>T
|
rs951741748
|
|
NM_024592.5(SRD5A3):c.*968C>T
|
rs78470512
|
|
NM_024592.5(SRD5A3):c.100C>G (p.Leu34Val)
|
rs769919131
|
|
NM_024592.5(SRD5A3):c.114C>T (p.Gly38=)
|
|
|
NM_024592.5(SRD5A3):c.126C>G (p.Gly42=)
|
rs776362756
|
|
NM_024592.5(SRD5A3):c.144C>T (p.Asp48=)
|
|
|
NM_024592.5(SRD5A3):c.171T>C (p.Cys57=)
|
|
|
NM_024592.5(SRD5A3):c.182C>G (p.Ser61Trp)
|
|
|
NM_024592.5(SRD5A3):c.203C>A (p.Ala68Asp)
|
|
|
NM_024592.5(SRD5A3):c.221+13C>T
|
|
|
NM_024592.5(SRD5A3):c.221+7G>A
|
|
|
NM_024592.5(SRD5A3):c.222-19G>C
|
|
|
NM_024592.5(SRD5A3):c.222-20C>T
|
|
|
NM_024592.5(SRD5A3):c.22G>A (p.Glu8Lys)
|
rs539407364
|
|
NM_024592.5(SRD5A3):c.243C>T (p.Ile81=)
|
|
|
NM_024592.5(SRD5A3):c.279C>A (p.Cys93Ter)
|
rs1482361634
|
|
NM_024592.5(SRD5A3):c.286_288delinsTGAGTAAGGC (p.Gln96Ter)
|
rs587776521
|
|
NM_024592.5(SRD5A3):c.29C>A (p.Ser10Ter)
|
rs267607094
|
|
NM_024592.5(SRD5A3):c.307C>T (p.Pro103Ser)
|
|
|
NM_024592.5(SRD5A3):c.320G>A (p.Trp107Ter)
|
rs267607093
|
|
NM_024592.5(SRD5A3):c.334C>T (p.Leu112Phe)
|
rs1578206800
|
|
NM_024592.5(SRD5A3):c.344T>G (p.Leu115Arg)
|
|
|
NM_024592.5(SRD5A3):c.345C>T (p.Leu115=)
|
|
|
NM_024592.5(SRD5A3):c.351G>A (p.Ala117=)
|
|
|
NM_024592.5(SRD5A3):c.364+18T>A
|
|
|
NM_024592.5(SRD5A3):c.390C>G (p.Phe130Leu)
|
|
|
NM_024592.5(SRD5A3):c.416A>G (p.His139Arg)
|
rs1719786702
|
|
NM_024592.5(SRD5A3):c.424C>T (p.Arg142Ter)
|
rs267607095
|
|
NM_024592.5(SRD5A3):c.433T>C (p.Phe145Leu)
|
rs1719787731
|
|
NM_024592.5(SRD5A3):c.484C>T (p.Gln162Ter)
|
rs1578209906
|
|
NM_024592.5(SRD5A3):c.489C>A (p.Tyr163Ter)
|
rs267607092
|
|
NM_024592.5(SRD5A3):c.506A>G (p.Tyr169Cys)
|
|
|
NM_024592.5(SRD5A3):c.50_60del (p.Ala17fs)
|
|
|
NM_024592.5(SRD5A3):c.563-16A>C
|
|
|
NM_024592.5(SRD5A3):c.56G>T (p.Trp19Leu)
|
|
|
NM_024592.5(SRD5A3):c.586T>C (p.Leu196=)
|
|
|
NM_024592.5(SRD5A3):c.598C>T (p.Arg200Trp)
|
|
|
NM_024592.5(SRD5A3):c.613C>T (p.Leu205Phe)
|
rs1719953488
|
|
NM_024592.5(SRD5A3):c.627G>A (p.Met209Ile)
|
|
|
NM_024592.5(SRD5A3):c.63G>A (p.Thr21=)
|
|
|
NM_024592.5(SRD5A3):c.697+13T>C
|
|
|
NM_024592.5(SRD5A3):c.697+1G>C
|
rs1719958144
|
|
NM_024592.5(SRD5A3):c.751G>C (p.Val251Leu)
|
|
|
NM_024592.5(SRD5A3):c.77T>G (p.Phe26Cys)
|
rs1204016593
|
|
NM_024592.5(SRD5A3):c.789C>T (p.Tyr263=)
|
|
|
NM_024592.5(SRD5A3):c.83T>G (p.Leu28Arg)
|
|
|
NM_024592.5(SRD5A3):c.911T>C (p.Val304Ala)
|
rs1720062980
|
|
NM_024592.5(SRD5A3):c.918C>T (p.Tyr306=)
|
|
|
NM_024592.5(SRD5A3):c.920C>T (p.Pro307Leu)
|
rs769885824
|
|
NM_024592.5(SRD5A3):c.927T>C (p.His309=)
|
|
|
NM_024592.5(SRD5A3):c.934G>C (p.Ala312Pro)
|
rs1720064413
|
|
NM_024592.5(SRD5A3):c.942A>G (p.Leu314=)
|
rs1488770806
|
|
NM_024592.5(SRD5A3):c.951_955del (p.Phe318fs)
|
rs565935886
|
|
NM_024740.2(ALG9):c.*1297A>G
|
rs577487864
|
|
NM_024740.2(ALG9):c.*1766A>G
|
rs886047676
|
|
NM_024740.2(ALG9):c.*243G>A
|
rs886047684
|
|
NM_024740.2(ALG9):c.*2443T>A
|
rs146821834
|
|
NM_024740.2(ALG9):c.*2592T>C
|
rs886047661
|
|
NM_024740.2(ALG9):c.*2597G>C
|
rs1591752692
|
|
NM_024740.2(ALG9):c.*2648G>A
|
rs1946165207
|
|
NM_024740.2(ALG9):c.*3798A>G
|
rs1946041440
|
|
NM_024740.2(ALG9):c.*532C>T
|
rs886047681
|
|
NM_024740.2(ALG9):c.1015C>T (p.His339Tyr)
|
|
|
NM_024740.2(ALG9):c.1018+19G>A
|
|
|
NM_024740.2(ALG9):c.1060A>T (p.Met354Leu)
|
|
|
NM_024740.2(ALG9):c.1077A>G (p.Ile359Met)
|
|
|
NM_024740.2(ALG9):c.1091A>G (p.Gln364Arg)
|
rs1956094478
|
|
NM_024740.2(ALG9):c.114C>G (p.Gly38=)
|
|
|
NM_024740.2(ALG9):c.1173+18G>A
|
|
|
NM_024740.2(ALG9):c.1173+2T>A
|
rs786205134
|
|
NM_024740.2(ALG9):c.1174-19T>G
|
|
|
NM_024740.2(ALG9):c.1174-5A>T
|
|
|
NM_024740.2(ALG9):c.1177A>C (p.Ser393Arg)
|
|
|
NM_024740.2(ALG9):c.1197A>G (p.Lys399=)
|
|
|
NM_024740.2(ALG9):c.11G>A (p.Arg4Gln)
|
|
|
NM_024740.2(ALG9):c.1212G>T (p.Val404=)
|
|
|
NM_024740.2(ALG9):c.1226G>T (p.Arg409Leu)
|
rs929508101
|
|
NM_024740.2(ALG9):c.125G>C (p.Arg42Pro)
|
rs781880611
|
|
NM_024740.2(ALG9):c.1296dup (p.Phe433fs)
|
|
|
NM_024740.2(ALG9):c.131+10C>T
|
|
|
NM_024740.2(ALG9):c.131+1G>C
|
|
|
NM_024740.2(ALG9):c.131+5G>A
|
rs567032424
|
|
NM_024740.2(ALG9):c.131+5G>T
|
rs567032424
|
|
NM_024740.2(ALG9):c.131+7G>C
|
|
|
NM_024740.2(ALG9):c.1317G>C (p.Leu439=)
|
|
|
NM_024740.2(ALG9):c.132-13_132-12insTTG
|
|
|
NM_024740.2(ALG9):c.132-13del
|
|
|
NM_024740.2(ALG9):c.132-19T>G
|
|
|
NM_024740.2(ALG9):c.132-20T>G
|
|
|
NM_024740.2(ALG9):c.1320C>T (p.Phe440=)
|
|
|
NM_024740.2(ALG9):c.1324+10C>T
|
|
|
NM_024740.2(ALG9):c.1324+6T>G
|
|
|
NM_024740.2(ALG9):c.1325-17A>G
|
|
|
NM_024740.2(ALG9):c.1350T>C (p.Tyr450=)
|
|
|
NM_024740.2(ALG9):c.1352C>G (p.Pro451Arg)
|
|
|
NM_024740.2(ALG9):c.1364G>T (p.Arg455Leu)
|
|
|
NM_024740.2(ALG9):c.1377C>T (p.Asp459=)
|
rs2136830008
|
|
NM_024740.2(ALG9):c.1382C>T (p.Thr461Ile)
|
|
|
NM_024740.2(ALG9):c.1399G>A (p.Glu467Lys)
|
rs782023699
|
|
NM_024740.2(ALG9):c.1406G>A (p.Arg469Lys)
|
|
|
NM_024740.2(ALG9):c.141G>A (p.Gly47=)
|
|
|
NM_024740.2(ALG9):c.1431A>G (p.Lys477=)
|
|
|
NM_024740.2(ALG9):c.1460T>C (p.Leu487Pro)
|
rs2136827755
|
|
NM_024740.2(ALG9):c.1469A>T (p.Asp490Val)
|
|
|
NM_024740.2(ALG9):c.1500G>A (p.Glu500=)
|
|
|
NM_024740.2(ALG9):c.1550G>A (p.Arg517Gln)
|
|
|
NM_024740.2(ALG9):c.1567A>G (p.Met523Val)
|
|
|
NM_024740.2(ALG9):c.1588G>A (p.Glu530Lys)
|
rs121908022
|
|
NM_024740.2(ALG9):c.1598G>C (p.Arg533Thr)
|
|
|
NM_024740.2(ALG9):c.1604T>C (p.Ile535Thr)
|
|
|
NM_024740.2(ALG9):c.1604T>G (p.Ile535Ser)
|
rs12575909
|
|
NM_024740.2(ALG9):c.1644C>G (p.Thr548=)
|
|
|
NM_024740.2(ALG9):c.1645A>G (p.Met549Val)
|
|
|
NM_024740.2(ALG9):c.1682A>G (p.Asn561Ser)
|
|
|
NM_024740.2(ALG9):c.1733+19A>G
|
|
|
NM_024740.2(ALG9):c.1733+9C>T
|
|
|
NM_024740.2(ALG9):c.1734-15T>C
|
|
|
NM_024740.2(ALG9):c.1734-16dup
|
|
|
NM_024740.2(ALG9):c.1734-17del
|
|
|
NM_024740.2(ALG9):c.1753G>A (p.Ala585Thr)
|
|
|
NM_024740.2(ALG9):c.1760A>G (p.Tyr587Cys)
|
|
|
NM_024740.2(ALG9):c.1765C>G (p.Pro589Ala)
|
|
|
NM_024740.2(ALG9):c.1768T>C (p.Phe590Leu)
|
|
|
NM_024740.2(ALG9):c.1780C>T (p.Gln594Ter)
|
rs1555064204
|
|
NM_024740.2(ALG9):c.1820G>A (p.Arg607Gln)
|
|
|
NM_024740.2(ALG9):c.222C>T (p.Leu74=)
|
|
|
NM_024740.2(ALG9):c.270+17G>C
|
|
|
NM_024740.2(ALG9):c.271-10G>A
|
|
|
NM_024740.2(ALG9):c.279C>T (p.Tyr93=)
|
|
|
NM_024740.2(ALG9):c.27C>T (p.Arg9=)
|
|
|
NM_024740.2(ALG9):c.294A>G (p.Glu98=)
|
|
|
NM_024740.2(ALG9):c.360T>C (p.His120=)
|
|
|
NM_024740.2(ALG9):c.405+9A>T
|
|
|
NM_024740.2(ALG9):c.414G>A (p.Val138=)
|
|
|
NM_024740.2(ALG9):c.482T>C (p.Val161Ala)
|
|
|
NM_024740.2(ALG9):c.546C>A (p.Gly182=)
|
|
|
NM_024740.2(ALG9):c.596C>G (p.Thr199Ser)
|
|
|
NM_024740.2(ALG9):c.59C>A (p.Thr20Lys)
|
rs1555158969
|
|
NM_024740.2(ALG9):c.691G>A (p.Ala231Thr)
|
|
|
NM_024740.2(ALG9):c.701+1G>A
|
rs2137107185
|
|
NM_024740.2(ALG9):c.702-9_702-8del
|
|
|
NM_024740.2(ALG9):c.739A>G (p.Arg247Gly)
|
|
|
NM_024740.2(ALG9):c.744G>A (p.Trp248Ter)
|
|
|
NM_024740.2(ALG9):c.754_757del (p.Phe252fs)
|
|
|
NM_024740.2(ALG9):c.790-20T>C
|
|
|
NM_024740.2(ALG9):c.793C>T (p.Pro265Ser)
|
|
|
NM_024740.2(ALG9):c.846C>T (p.Leu282=)
|
|
|
NM_024740.2(ALG9):c.880G>A (p.Gly294Arg)
|
|
|
NM_024740.2(ALG9):c.888T>G (p.Asp296Glu)
|
|
|
NM_024740.2(ALG9):c.896-2A>G
|
|
|
NM_024740.2(ALG9):c.910T>C (p.Tyr304His)
|
|
|
NM_024740.2(ALG9):c.917A>G (p.Tyr306Cys)
|
|
|
NM_024740.2(ALG9):c.966C>T (p.Leu322=)
|
|
|
NM_024740.2(ALG9):c.98G>A (p.Ser33Asn)
|
rs1964247669
|
|
NM_024740.2(ALG9):c.992del (p.Met331fs)
|
rs2136936118
|
|
NM_033087.4(ALG2):c.1005G>A (p.Met335Ile)
|
|
|
NM_033087.4(ALG2):c.1014G>C (p.Gln338His)
|
|
|
NM_033087.4(ALG2):c.1014G>T (p.Gln338His)
|
rs2118998218
|
|
NM_033087.4(ALG2):c.1025T>C (p.Ile342Thr)
|
rs2118998170
|
|
NM_033087.4(ALG2):c.1030G>C (p.Val344Leu)
|
rs1588618702
|
|
NM_033087.4(ALG2):c.1040del (p.Gly347fs)
|
rs387906281
|
|
NM_033087.4(ALG2):c.1047C>T (p.Pro349=)
|
rs1588618685
|
|
NM_033087.4(ALG2):c.1055_1056delinsTGA (p.Ser352fs)
|
rs1554707637
|
|
NM_033087.4(ALG2):c.1056C>G (p.Ser352=)
|
|
|
NM_033087.4(ALG2):c.1062C>T (p.Asp354=)
|
|
|
NM_033087.4(ALG2):c.1064A>G (p.His355Arg)
|
rs1246812091
|
|
NM_033087.4(ALG2):c.1068T>C (p.Ser356=)
|
|
|
NM_033087.4(ALG2):c.108G>A (p.Ala36=)
|
|
|
NM_033087.4(ALG2):c.1107C>T (p.Phe369=)
|
|
|
NM_033087.4(ALG2):c.1110A>C (p.Ser370=)
|
rs369062018
|
|
NM_033087.4(ALG2):c.1110A>G (p.Ser370=)
|
|
|
NM_033087.4(ALG2):c.1133G>A (p.Arg378His)
|
|
|
NM_033087.4(ALG2):c.1140_1141inv (p.Ser381Thr)
|
|
|
NM_033087.4(ALG2):c.1150G>A (p.Ala384Thr)
|
rs1828724423
|
|
NM_033087.4(ALG2):c.1153A>G (p.Thr385Ala)
|
rs1340353164
|
|
NM_033087.4(ALG2):c.1156_1162del (p.Met386fs)
|
rs2118997596
|
|
NM_033087.4(ALG2):c.1180G>C (p.Val394Leu)
|
|
|
NM_033087.4(ALG2):c.1185G>A (p.Lys395=)
|
|
|
NM_033087.4(ALG2):c.118C>T (p.Leu40=)
|
|
|
NM_033087.4(ALG2):c.1191A>G (p.Lys397=)
|
rs2118997478
|
|
NM_033087.4(ALG2):c.1193T>C (p.Phe398Ser)
|
|
|
NM_033087.4(ALG2):c.1230T>A (p.Tyr410Ter)
|
rs372356780
|
|
NM_033087.4(ALG2):c.1235C>A (p.Thr412Asn)
|
|
|
NM_033087.4(ALG2):c.1248A>G (p.Val416=)
|
rs1828721761
|
|
NM_033087.4(ALG2):c.132del (p.Cys45fs)
|
|
|
NM_033087.4(ALG2):c.135T>C (p.Cys45=)
|
|
|
NM_033087.4(ALG2):c.144G>A (p.Lys48=)
|
|
|
NM_033087.4(ALG2):c.145A>G (p.Ile49Val)
|
rs759980920
|
|
NM_033087.4(ALG2):c.147C>G (p.Ile49Met)
|
|
|
NM_033087.4(ALG2):c.147C>T (p.Ile49=)
|
|
|
NM_033087.4(ALG2):c.162C>A (p.Tyr54Ter)
|
rs748281785
|
|
NM_033087.4(ALG2):c.16G>C (p.Gly6Arg)
|
rs773062290
|
|
NM_033087.4(ALG2):c.179T>A (p.Phe60Tyr)
|
|
|
NM_033087.4(ALG2):c.179T>G (p.Phe60Cys)
|
rs753517894
|
|
NM_033087.4(ALG2):c.17G>T (p.Gly6Val)
|
rs180849348
|
|
NM_033087.4(ALG2):c.180C>A (p.Phe60Leu)
|
rs777441526
|
|
NM_033087.4(ALG2):c.182C>T (p.Ala61Val)
|
rs1588620643
|
|
NM_033087.4(ALG2):c.18C>T (p.Gly6=)
|
|
|
NM_033087.4(ALG2):c.195G>A (p.Glu65=)
|
|
|
NM_033087.4(ALG2):c.196C>T (p.Leu66=)
|
rs763273127
|
|
NM_033087.4(ALG2):c.203T>G (p.Val68Gly)
|
rs730882051
|
|
NM_033087.4(ALG2):c.212C>G (p.Ala71Gly)
|
rs551744220
|
|
NM_033087.4(ALG2):c.212C>T (p.Ala71Val)
|
rs551744220
|
|
NM_033087.4(ALG2):c.213C>A (p.Ala71=)
|
|
|
NM_033087.4(ALG2):c.213C>G (p.Ala71=)
|
rs768862419
|
|
NM_033087.4(ALG2):c.213C>T (p.Ala71=)
|
rs768862419
|
|
NM_033087.4(ALG2):c.214G>A (p.Gly72Arg)
|
rs745813432
|
|
NM_033087.4(ALG2):c.214_224delinsAGTCCCCG (p.Gly72_Leu75delinsSerProArg)
|
rs730882123
|
|
NM_033087.4(ALG2):c.215G>T (p.Gly72Val)
|
rs770738799
|
|
NM_033087.4(ALG2):c.215_225del (p.Gly72fs)
|
rs1828806340
|
|
NM_033087.4(ALG2):c.216G>C (p.Gly72=)
|
|
|
NM_033087.4(ALG2):c.216delinsTCCCC (p.Asp73fs)
|
|
|
NM_033087.4(ALG2):c.217G>T (p.Asp73Tyr)
|
rs375634924
|
|
NM_033087.4(ALG2):c.218_225del (p.Asp73fs)
|
rs1828806280
|
|
NM_033087.4(ALG2):c.228G>C (p.Pro76=)
|
|
|
NM_033087.4(ALG2):c.235C>G (p.Leu79Val)
|
|
|
NM_033087.4(ALG2):c.236T>C (p.Leu79Pro)
|
rs1564222174
|
|
NM_033087.4(ALG2):c.243_251dup (p.Gly85_Ala86insGlyArgGly)
|
|
|
NM_033087.4(ALG2):c.246C>T (p.Gly82=)
|
|
|
NM_033087.4(ALG2):c.251GCG[3] (p.Gly85dup)
|
rs1050763044
|
|
NM_033087.4(ALG2):c.257CCG[3] (p.Ala87dup)
|
rs759891618
|
|
NM_033087.4(ALG2):c.258C>T (p.Ala86=)
|
rs1057521308
|
|
NM_033087.4(ALG2):c.264C>G (p.Val88=)
|
rs1015050313
|
|
NM_033087.4(ALG2):c.264C>T (p.Val88=)
|
|
|
NM_033087.4(ALG2):c.282G>A (p.Met94Ile)
|
|
|
NM_033087.4(ALG2):c.283G>A (p.Val95Ile)
|
|
|
NM_033087.4(ALG2):c.28G>A (p.Asp10Asn)
|
rs769169852
|
|
NM_033087.4(ALG2):c.292G>A (p.Ala98Thr)
|
|
|
NM_033087.4(ALG2):c.297C>G (p.Leu99=)
|
|
|
NM_033087.4(ALG2):c.306G>C (p.Leu102=)
|
|
|
NM_033087.4(ALG2):c.308del (p.Phe103fs)
|
|
|
NM_033087.4(ALG2):c.309C>T (p.Phe103=)
|
|
|
NM_033087.4(ALG2):c.314C>G (p.Ala105Gly)
|
rs747781559
|
|
NM_033087.4(ALG2):c.315C>T (p.Ala105=)
|
rs1588620487
|
|
NM_033087.4(ALG2):c.316G>A (p.Asp106Asn)
|
|
|
NM_033087.4(ALG2):c.324G>A (p.Glu108=)
|
|
|
NM_033087.4(ALG2):c.327C>T (p.Phe109=)
|
|
|
NM_033087.4(ALG2):c.328G>C (p.Asp110His)
|
|
|
NM_033087.4(ALG2):c.32C>T (p.Ser11Leu)
|
rs2119008980
|
|
NM_033087.4(ALG2):c.337G>A (p.Val113Met)
|
|
|
NM_033087.4(ALG2):c.339G>A (p.Val113=)
|
rs1554708016
|
|
NM_033087.4(ALG2):c.347A>G (p.Gln116Arg)
|
rs2119007195
|
|
NM_033087.4(ALG2):c.348+10C>A
|
|
|
NM_033087.4(ALG2):c.348+10C>T
|
|
|
NM_033087.4(ALG2):c.348+14G>A
|
rs2119007123
|
|
NM_033087.4(ALG2):c.348+18C>T
|
|
|
NM_033087.4(ALG2):c.348+20G>A
|
|
|
NM_033087.4(ALG2):c.348+7C>T
|
|
|
NM_033087.4(ALG2):c.348+8G>C
|
rs1230090169
|
|
NM_033087.4(ALG2):c.34G>C (p.Val12Leu)
|
|
|
NM_033087.4(ALG2):c.351G>T (p.Val117=)
|
|
|
NM_033087.4(ALG2):c.359G>A (p.Cys120Tyr)
|
|
|
NM_033087.4(ALG2):c.367G>A (p.Val123Met)
|
rs1828745406
|
|
NM_033087.4(ALG2):c.382A>G (p.Arg128Gly)
|
|
|
NM_033087.4(ALG2):c.385CGG[1] (p.Arg130del)
|
|
|
NM_033087.4(ALG2):c.393G>T (p.Lys131Asn)
|
rs730880304
|
|
NM_033087.4(ALG2):c.3G>A (p.Met1Ile)
|
|
|
NM_033087.4(ALG2):c.42G>A (p.Lys14=)
|
|
|
NM_033087.4(ALG2):c.442_443del (p.Asp148fs)
|
rs1828743411
|
|
NM_033087.4(ALG2):c.446C>A (p.Ser149Tyr)
|
rs1350412580
|
|
NM_033087.4(ALG2):c.44C>A (p.Pro15Gln)
|
rs757920586
|
|
NM_033087.4(ALG2):c.452T>C (p.Leu151Pro)
|
|
|
NM_033087.4(ALG2):c.453T>A (p.Leu151=)
|
|
|
NM_033087.4(ALG2):c.489G>T (p.Glu163Asp)
|
rs1486842886
|
|
NM_033087.4(ALG2):c.496A>G (p.Thr166Ala)
|
rs1588619067
|
|
NM_033087.4(ALG2):c.507G>A (p.Met169Ile)
|
rs779723777
|
|
NM_033087.4(ALG2):c.516C>A (p.Cys172Ter)
|
rs1828741342
|
|
NM_033087.4(ALG2):c.519C>G (p.Ile173Met)
|
rs1372608210
|
|
NM_033087.4(ALG2):c.550T>C (p.Phe184Leu)
|
|
|
NM_033087.4(ALG2):c.560C>T (p.Thr187Ile)
|
|
|
NM_033087.4(ALG2):c.578A>G (p.His193Arg)
|
rs749336918
|
|
NM_033087.4(ALG2):c.57C>T (p.Phe19=)
|
|
|
NM_033087.4(ALG2):c.590A>G (p.Asp197Gly)
|
|
|
NM_033087.4(ALG2):c.599A>C (p.Tyr200Ser)
|
rs201271253
|
|
NM_033087.4(ALG2):c.5C>T (p.Ala2Val)
|
|
|
NM_033087.4(ALG2):c.627C>T (p.Asp209=)
|
rs1187766399
|
|
NM_033087.4(ALG2):c.638dup (p.Pro213_Glu214insTer)
|
rs745635377
|
|
NM_033087.4(ALG2):c.660C>A (p.Val220=)
|
|
|
NM_033087.4(ALG2):c.666G>A (p.Lys222=)
|
|
|
NM_033087.4(ALG2):c.675A>G (p.Lys225=)
|
|
|
NM_033087.4(ALG2):c.676T>A (p.Phe226Ile)
|
rs1828737709
|
|
NM_033087.4(ALG2):c.678C>G (p.Phe226Leu)
|
rs866855594
|
|
NM_033087.4(ALG2):c.679C>A (p.Leu227Met)
|
rs1308983324
|
|
NM_033087.4(ALG2):c.679C>G (p.Leu227Val)
|
rs1308983324
|
|
NM_033087.4(ALG2):c.686T>A (p.Leu229His)
|
rs1828737491
|
|
NM_033087.4(ALG2):c.691A>G (p.Ile231Val)
|
|
|
NM_033087.4(ALG2):c.69C>T (p.Asp23=)
|
rs764985375
|
|
NM_033087.4(ALG2):c.717T>C (p.Asn239=)
|
rs1588618893
|
|
NM_033087.4(ALG2):c.729A>C (p.Ala243=)
|
|
|
NM_033087.4(ALG2):c.729A>T (p.Ala243=)
|
rs748947069
|
|
NM_033087.4(ALG2):c.733G>A (p.Glu245Lys)
|
rs777262456
|
|
NM_033087.4(ALG2):c.746A>G (p.Gln249Arg)
|
|
|
NM_033087.4(ALG2):c.750_751delinsTT (p.Arg251Cys)
|
|
|
NM_033087.4(ALG2):c.752G>T (p.Arg251Leu)
|
rs201729325
|
|
NM_033087.4(ALG2):c.75C>G (p.Gly25=)
|
rs1410757499
|
|
NM_033087.4(ALG2):c.760T>C (p.Leu254=)
|
rs62562374
|
|
NM_033087.4(ALG2):c.760T>G (p.Leu254Val)
|
rs62562374
|
|
NM_033087.4(ALG2):c.795C>A (p.Ile265=)
|
rs183416022
|
|
NM_033087.4(ALG2):c.795C>G (p.Ile265Met)
|
rs183416022
|
|
NM_033087.4(ALG2):c.814G>A (p.Glu272Lys)
|
|
|
NM_033087.4(ALG2):c.81C>T (p.Gly27=)
|
|
|
NM_033087.4(ALG2):c.839A>G (p.His280Arg)
|
rs2118998777
|
|
NM_033087.4(ALG2):c.841T>C (p.Tyr281His)
|
|
|
NM_033087.4(ALG2):c.873C>T (p.Ser291=)
|
|
|
NM_033087.4(ALG2):c.89_114del (p.Glu30fs)
|
rs775204090
|
|
NM_033087.4(ALG2):c.918A>G (p.Lys306=)
|
|
|
NM_033087.4(ALG2):c.921_922del (p.Lys308fs)
|
|
|
NM_033087.4(ALG2):c.929C>A (p.Ser310Tyr)
|
|
|
NM_033087.4(ALG2):c.935T>A (p.Leu312His)
|
|
|
NM_033087.4(ALG2):c.945C>T (p.Cys315=)
|
rs1828729293
|
|
NM_033087.4(ALG2):c.949T>C (p.Cys317Arg)
|
|
|
NM_033087.4(ALG2):c.957T>C (p.Leu319=)
|
|
|
NM_033087.4(ALG2):c.959A>G (p.Tyr320Cys)
|
rs1828728819
|
|
NM_033087.4(ALG2):c.962C>A (p.Thr321Lys)
|
rs2118998416
|
|
NM_033087.4(ALG2):c.964C>A (p.Pro322Thr)
|
|
|
NM_033087.4(ALG2):c.96G>A (p.Leu32=)
|
|
|
NM_033087.4(ALG2):c.971A>G (p.Asn324Ser)
|
|
|
NM_033087.4(ALG2):c.974A>G (p.Glu325Gly)
|
|
|
NM_033087.4(ALG2):c.97G>A (p.Val33Met)
|
rs774607653
|
|
NM_033087.4(ALG2):c.97G>T (p.Val33Leu)
|
|
|
NM_033087.4(ALG2):c.984C>G (p.Gly328=)
|
|
|
NM_052859.4(RFT1):c.*1117G>C
|
rs1700966613
|
|
NM_052859.4(RFT1):c.*116C>G
|
rs1474404507
|
|
NM_052859.4(RFT1):c.*1271A>C
|
rs549553484
|
|
NM_052859.4(RFT1):c.*153C>T
|
rs886058723
|
|
NM_052859.4(RFT1):c.*1693G>A
|
rs146195364
|
|
NM_052859.4(RFT1):c.*1693G>T
|
rs146195364
|
|
NM_052859.4(RFT1):c.*182G>C
|
rs550906487
|
|
NM_052859.4(RFT1):c.*184G>C
|
rs548020075
|
|
NM_052859.4(RFT1):c.*2076C>T
|
rs138775144
|
|
NM_052859.4(RFT1):c.*2187A>G
|
rs1249353870
|
|
NM_052859.4(RFT1):c.*2255A>C
|
rs886058717
|
|
NM_052859.4(RFT1):c.*2350C>T
|
rs886058716
|
|
NM_052859.4(RFT1):c.*2427G>A
|
rs886058715
|
|
NM_052859.4(RFT1):c.*2428G>A
|
rs1036043688
|
|
NM_052859.4(RFT1):c.*2787G>C
|
rs886058714
|
|
NM_052859.4(RFT1):c.*295C>T
|
rs1050584536
|
|
NM_052859.4(RFT1):c.*2992G>A
|
rs1390396374
|
|
NM_052859.4(RFT1):c.*2997C>G
|
rs886058712
|
|
NM_052859.4(RFT1):c.*3093C>T
|
rs886058710
|
|
NM_052859.4(RFT1):c.*3191A>G
|
rs886058709
|
|
NM_052859.4(RFT1):c.*405G>T
|
rs886058722
|
|
NM_052859.4(RFT1):c.*423G>A
|
rs1476531096
|
|
NM_052859.4(RFT1):c.*441C>A
|
rs1700985095
|
|
NM_052859.4(RFT1):c.*609C>T
|
rs886058721
|
|
NM_052859.4(RFT1):c.*861A>G
|
rs886058720
|
|
NM_052859.4(RFT1):c.-16G>T
|
rs766018631
|
|
NM_052859.4(RFT1):c.1003C>T (p.Leu335=)
|
rs2107109171
|
|
NM_052859.4(RFT1):c.1008C>G (p.Ala336=)
|
rs199734288
|
|
NM_052859.4(RFT1):c.1009C>T (p.Leu337=)
|
rs1701393196
|
|
NM_052859.4(RFT1):c.1020C>T (p.Gly340=)
|
rs766360090
|
|
NM_052859.4(RFT1):c.1032T>A (p.Thr344=)
|
|
|
NM_052859.4(RFT1):c.1052C>G (p.Ser351Cys)
|
|
|
NM_052859.4(RFT1):c.1063C>G (p.Leu355Val)
|
|
|
NM_052859.4(RFT1):c.1071C>G (p.Ile357Met)
|
|
|
NM_052859.4(RFT1):c.1080G>T (p.Gly360=)
|
rs1189812930
|
|
NM_052859.4(RFT1):c.1085T>C (p.Met362Thr)
|
rs1701389862
|
|
NM_052859.4(RFT1):c.109C>T (p.Arg37Cys)
|
rs764833139
|
|
NM_052859.4(RFT1):c.10C>A (p.Gln4Lys)
|
rs773959881
|
|
NM_052859.4(RFT1):c.1102+17T>C
|
|
|
NM_052859.4(RFT1):c.1102+1G>T
|
rs1559586345
|
|
NM_052859.4(RFT1):c.1102+4C>A
|
rs150695725
|
|
NM_052859.4(RFT1):c.1102+4C>T
|
rs150695725
|
|
NM_052859.4(RFT1):c.1102+8C>A
|
|
|
NM_052859.4(RFT1):c.1103-14T>C
|
|
|
NM_052859.4(RFT1):c.1103-5T>C
|
rs1338060752
|
|
NM_052859.4(RFT1):c.1103-6T>C
|
|
|
NM_052859.4(RFT1):c.1103-8C>A
|
rs1701250241
|
|
NM_052859.4(RFT1):c.1124A>G (p.Tyr375Cys)
|
rs1701249101
|
|
NM_052859.4(RFT1):c.1135G>A (p.Val379Ile)
|
rs1364345554
|
|
NM_052859.4(RFT1):c.1138C>G (p.Leu380Val)
|
rs575508213
|
|
NM_052859.4(RFT1):c.1143G>C (p.Leu381=)
|
|
|
NM_052859.4(RFT1):c.1154A>G (p.Asn385Ser)
|
|
|
NM_052859.4(RFT1):c.1156G>C (p.Gly386Arg)
|
rs2107095147
|
|
NM_052859.4(RFT1):c.1162A>T (p.Thr388Ser)
|
rs1701247296
|
|
NM_052859.4(RFT1):c.1163C>T (p.Thr388Ile)
|
|
|
NM_052859.4(RFT1):c.1167G>A (p.Glu389=)
|
|
|
NM_052859.4(RFT1):c.1175C>T (p.Thr392Ile)
|
|
|
NM_052859.4(RFT1):c.1186A>G (p.Met396Val)
|
rs1701245763
|
|
NM_052859.4(RFT1):c.1195G>T (p.Glu399Ter)
|
rs2107094933
|
|
NM_052859.4(RFT1):c.1197G>A (p.Glu399=)
|
rs765986260
|
|
NM_052859.4(RFT1):c.1198del (p.Glu400fs)
|
rs748350251
|
|
NM_052859.4(RFT1):c.1208+11T>C
|
|
|
NM_052859.4(RFT1):c.1208+3G>A
|
|
|
NM_052859.4(RFT1):c.1208+7A>G
|
|
|
NM_052859.4(RFT1):c.1209-18T>C
|
|
|
NM_052859.4(RFT1):c.1222A>G (p.Met408Val)
|
rs796053522
|
|
NM_052859.4(RFT1):c.1226T>C (p.Leu409Pro)
|
|
|
NM_052859.4(RFT1):c.1231del (p.Leu411fs)
|
rs771934344
|
|
NM_052859.4(RFT1):c.1236CTC[1] (p.Ser414del)
|
|
|
NM_052859.4(RFT1):c.1261C>G (p.Leu421Val)
|
|
|
NM_052859.4(RFT1):c.1271G>A (p.Arg424His)
|
|
|
NM_052859.4(RFT1):c.1289G>A (p.Gly430Asp)
|
|
|
NM_052859.4(RFT1):c.1294A>G (p.Ile432Val)
|
|
|
NM_052859.4(RFT1):c.129C>T (p.Ile43=)
|
rs148510042
|
|
NM_052859.4(RFT1):c.1316T>C (p.Met439Thr)
|
rs749046487
|
|
NM_052859.4(RFT1):c.131T>C (p.Val44Ala)
|
rs2107173212
|
|
NM_052859.4(RFT1):c.1326G>A (p.Arg442=)
|
|
|
NM_052859.4(RFT1):c.1332G>T (p.Thr444=)
|
rs139487607
|
|
NM_052859.4(RFT1):c.1341T>G (p.Leu447=)
|
rs2107071678
|
|
NM_052859.4(RFT1):c.1348A>G (p.Ile450Val)
|
|
|
NM_052859.4(RFT1):c.1359C>T (p.Tyr453=)
|
|
|
NM_052859.4(RFT1):c.1375C>T (p.His459Tyr)
|
|
|
NM_052859.4(RFT1):c.1381C>A (p.Pro461Thr)
|
|
|
NM_052859.4(RFT1):c.1386G>A (p.Leu462=)
|
|
|
NM_052859.4(RFT1):c.138A>G (p.Val46=)
|
rs1702095360
|
|
NM_052859.4(RFT1):c.1398C>T (p.His466=)
|
|
|
NM_052859.4(RFT1):c.1399dup (p.Leu467fs)
|
rs2107071266
|
|
NM_052859.4(RFT1):c.1401A>T (p.Leu467=)
|
|
|
NM_052859.4(RFT1):c.1404G>A (p.Ser468=)
|
rs1366809549
|
|
NM_052859.4(RFT1):c.1413_1414delinsTT (p.Leu472Phe)
|
|
|
NM_052859.4(RFT1):c.1416C>T (p.Leu472=)
|
|
|
NM_052859.4(RFT1):c.1424T>G (p.Phe475Cys)
|
|
|
NM_052859.4(RFT1):c.1433G>C (p.Ser478Thr)
|
|
|
NM_052859.4(RFT1):c.1446dup (p.Ala483fs)
|
|
|
NM_052859.4(RFT1):c.144T>C (p.Asn48=)
|
|
|
NM_052859.4(RFT1):c.1455G>A (p.Ser485=)
|
rs767866491
|
|
NM_052859.4(RFT1):c.1458+15G>C
|
|
|
NM_052859.4(RFT1):c.1458+16C>T
|
|
|
NM_052859.4(RFT1):c.1458+5G>A
|
|
|
NM_052859.4(RFT1):c.1459-14G>A
|
|
|
NM_052859.4(RFT1):c.1459-14G>T
|
rs1295786345
|
|
NM_052859.4(RFT1):c.1459-17A>G
|
|
|
NM_052859.4(RFT1):c.1459-2A>G
|
|
|
NM_052859.4(RFT1):c.145G>A (p.Val49Ile)
|
|
|
NM_052859.4(RFT1):c.1476G>A (p.Glu492=)
|
rs1701005503
|
|
NM_052859.4(RFT1):c.1479G>A (p.Gln493=)
|
rs780448463
|
|
NM_052859.4(RFT1):c.1480G>A (p.Gly494Ser)
|
rs756497073
|
|
NM_052859.4(RFT1):c.148A>T (p.Arg50Ter)
|
rs2107173109
|
|
NM_052859.4(RFT1):c.149+16C>G
|
rs201161797
|
|
NM_052859.4(RFT1):c.150-14C>T
|
|
|
NM_052859.4(RFT1):c.150-17C>T
|
|
|
NM_052859.4(RFT1):c.150-1G>C
|
|
|
NM_052859.4(RFT1):c.1510G>C (p.Val504Leu)
|
|
|
NM_052859.4(RFT1):c.1515G>A (p.Gly505=)
|
|
|
NM_052859.4(RFT1):c.1516G>A (p.Ala506Thr)
|
rs1701003868
|
|
NM_052859.4(RFT1):c.1521C>G (p.Phe507Leu)
|
|
|
NM_052859.4(RFT1):c.153A>G (p.Leu51=)
|
|
|
NM_052859.4(RFT1):c.1546G>T (p.Ala516Ser)
|
rs1306859696
|
|
NM_052859.4(RFT1):c.154A>C (p.Thr52Pro)
|
rs1702035840
|
|
NM_052859.4(RFT1):c.1555A>G (p.Thr519Ala)
|
|
|
NM_052859.4(RFT1):c.155C>A (p.Thr52Lys)
|
rs764531159
|
|
NM_052859.4(RFT1):c.1560G>A (p.Glu520=)
|
rs369800703
|
|
NM_052859.4(RFT1):c.1560G>C (p.Glu520Asp)
|
rs369800703
|
|
NM_052859.4(RFT1):c.156G>T (p.Thr52=)
|
|
|
NM_052859.4(RFT1):c.1570A>T (p.Ile524Phe)
|
|
|
NM_052859.4(RFT1):c.1581C>T (p.Leu527=)
|
rs2107069217
|
|
NM_052859.4(RFT1):c.1595G>T (p.Gly532Val)
|
rs1701001018
|
|
NM_052859.4(RFT1):c.1597G>T (p.Val533Leu)
|
|
|
NM_052859.4(RFT1):c.1608C>G (p.Arg536=)
|
|
|
NM_052859.4(RFT1):c.1608C>T (p.Arg536=)
|
|
|
NM_052859.4(RFT1):c.173C>A (p.Thr58Asn)
|
|
|
NM_052859.4(RFT1):c.173C>T (p.Thr58Ile)
|
|
|
NM_052859.4(RFT1):c.18G>T (p.Val6=)
|
|
|
NM_052859.4(RFT1):c.208T>C (p.Cys70Arg)
|
|
|
NM_052859.4(RFT1):c.224C>T (p.Thr75Ile)
|
rs1702032211
|
|
NM_052859.4(RFT1):c.229C>T (p.Arg77Ter)
|
|
|
NM_052859.4(RFT1):c.230G>A (p.Arg77Gln)
|
|
|
NM_052859.4(RFT1):c.240C>G (p.Ser80Arg)
|
rs2107168045
|
|
NM_052859.4(RFT1):c.249C>T (p.Leu83=)
|
|
|
NM_052859.4(RFT1):c.24C>G (p.Gly8=)
|
rs2107183365
|
|
NM_052859.4(RFT1):c.253C>T (p.Leu85=)
|
|
|
NM_052859.4(RFT1):c.266+13T>A
|
|
|
NM_052859.4(RFT1):c.266+1G>A
|
rs371764423
|
|
NM_052859.4(RFT1):c.266+20G>A
|
|
|
NM_052859.4(RFT1):c.267-13dup
|
|
|
NM_052859.4(RFT1):c.267-16T>A
|
rs2107165275
|
|
NM_052859.4(RFT1):c.267-20del
|
|
|
NM_052859.4(RFT1):c.267-4C>G
|
|
|
NM_052859.4(RFT1):c.267-4C>T
|
rs1473728720
|
|
NM_052859.4(RFT1):c.267-5T>A
|
|
|
NM_052859.4(RFT1):c.272C>T (p.Pro91Leu)
|
|
|
NM_052859.4(RFT1):c.273C>G (p.Pro91=)
|
|
|
NM_052859.4(RFT1):c.275del (p.Leu92fs)
|
|
|
NM_052859.4(RFT1):c.27C>T (p.His9=)
|
|
|
NM_052859.4(RFT1):c.292T>A (p.Leu98Ile)
|
|
|
NM_052859.4(RFT1):c.30G>A (p.Ala10=)
|
|
|
NM_052859.4(RFT1):c.324T>C (p.Leu108=)
|
rs2107164889
|
|
NM_052859.4(RFT1):c.335A>C (p.Asp112Ala)
|
|
|
NM_052859.4(RFT1):c.33C>T (p.Ala11=)
|
|
|
NM_052859.4(RFT1):c.342TGT[1] (p.Val116del)
|
rs779809846
|
|
NM_052859.4(RFT1):c.343G>A (p.Val115Ile)
|
|
|
NM_052859.4(RFT1):c.34C>A (p.Arg12=)
|
|
|
NM_052859.4(RFT1):c.34C>G (p.Arg12Gly)
|
|
|
NM_052859.4(RFT1):c.34C>T (p.Arg12Trp)
|
|
|
NM_052859.4(RFT1):c.351T>C (p.Pro117=)
|
|
|
NM_052859.4(RFT1):c.368T>C (p.Val123Ala)
|
|
|
NM_052859.4(RFT1):c.373C>T (p.Leu125=)
|
rs1701996497
|
|
NM_052859.4(RFT1):c.374T>C (p.Leu125Pro)
|
|
|
NM_052859.4(RFT1):c.377T>C (p.Phe126Ser)
|
rs1701996247
|
|
NM_052859.4(RFT1):c.384C>T (p.Leu128=)
|
|
|
NM_052859.4(RFT1):c.3G>A (p.Met1Ile)
|
rs2107183535
|
|
NM_052859.4(RFT1):c.405A>G (p.Leu135=)
|
|
|
NM_052859.4(RFT1):c.421G>T (p.Val141Phe)
|
rs2107164186
|
|
NM_052859.4(RFT1):c.451_456dup (p.Leu151_Lys152dup)
|
rs750344787
|
|
NM_052859.4(RFT1):c.456+3C>G
|
rs1296088581
|
|
NM_052859.4(RFT1):c.456G>C (p.Lys152Asn)
|
|
|
NM_052859.4(RFT1):c.457-19C>G
|
rs2107162471
|
|
NM_052859.4(RFT1):c.463G>A (p.Ala155Thr)
|
|
|
NM_052859.4(RFT1):c.465A>C (p.Ala155=)
|
rs886058727
|
|
NM_052859.4(RFT1):c.477G>A (p.Ser159=)
|
rs750521781
|
|
NM_052859.4(RFT1):c.477G>C (p.Ser159=)
|
rs750521781
|
|
NM_052859.4(RFT1):c.490A>G (p.Ser164Gly)
|
rs2107162275
|
|
NM_052859.4(RFT1):c.498G>A (p.Leu166=)
|
|
|
NM_052859.4(RFT1):c.49G>A (p.Gly17Ser)
|
|
|
NM_052859.4(RFT1):c.49G>C (p.Gly17Arg)
|
|
|
NM_052859.4(RFT1):c.4G>C (p.Gly2Arg)
|
|
|
NM_052859.4(RFT1):c.501A>G (p.Thr167=)
|
|
|
NM_052859.4(RFT1):c.510C>T (p.Leu170=)
|
|
|
NM_052859.4(RFT1):c.511G>C (p.Val171Leu)
|
|
|
NM_052859.4(RFT1):c.519G>A (p.Trp173Ter)
|
rs759320646
|
|
NM_052859.4(RFT1):c.519G>C (p.Trp173Cys)
|
|
|
NM_052859.4(RFT1):c.54C>T (p.Leu18=)
|
|
|
NM_052859.4(RFT1):c.558+10A>G
|
|
|
NM_052859.4(RFT1):c.558G>T (p.Gln186His)
|
|
|
NM_052859.4(RFT1):c.559-13dup
|
rs1277722803
|
|
NM_052859.4(RFT1):c.559-14del
|
|
|
NM_052859.4(RFT1):c.559-20C>T
|
rs2107157946
|
|
NM_052859.4(RFT1):c.566A>G (p.Tyr189Cys)
|
|
|
NM_052859.4(RFT1):c.56T>C (p.Leu19Pro)
|
rs1575509225
|
|
NM_052859.4(RFT1):c.56T>G (p.Leu19Arg)
|
|
|
NM_052859.4(RFT1):c.58C>T (p.Leu20=)
|
|
|
NM_052859.4(RFT1):c.613C>T (p.Leu205=)
|
|
|
NM_052859.4(RFT1):c.614T>G (p.Leu205Arg)
|
rs1357940149
|
|
NM_052859.4(RFT1):c.620C>G (p.Ser207Cys)
|
|
|
NM_052859.4(RFT1):c.623C>T (p.Pro208Leu)
|
rs2107157423
|
|
NM_052859.4(RFT1):c.63+11C>A
|
|
|
NM_052859.4(RFT1):c.63+12C>T
|
rs755841835
|
|
NM_052859.4(RFT1):c.63+19G>T
|
rs2107182991
|
|
NM_052859.4(RFT1):c.63+20T>C
|
|
|
NM_052859.4(RFT1):c.63+3A>G
|
|
|
NM_052859.4(RFT1):c.63+4C>G
|
rs2107183082
|
|
NM_052859.4(RFT1):c.631A>G (p.Thr211Ala)
|
|
|
NM_052859.4(RFT1):c.634A>G (p.Lys212Glu)
|
|
|
NM_052859.4(RFT1):c.64-16del
|
rs776377276
|
|
NM_052859.4(RFT1):c.64-3T>C
|
|
|
NM_052859.4(RFT1):c.642A>G (p.Gln214=)
|
|
|
NM_052859.4(RFT1):c.646C>T (p.Leu216Phe)
|
|
|
NM_052859.4(RFT1):c.649C>T (p.Pro217Ser)
|
rs2107157216
|
|
NM_052859.4(RFT1):c.658A>G (p.Arg220Gly)
|
|
|
NM_052859.4(RFT1):c.662del (p.Ile221fs)
|
rs2107157163
|
|
NM_052859.4(RFT1):c.66G>A (p.Val22=)
|
rs2107173481
|
|
NM_052859.4(RFT1):c.673T>A (p.Leu225Ile)
|
|
|
NM_052859.4(RFT1):c.696+11C>T
|
rs886058725
|
|
NM_052859.4(RFT1):c.696+5_696+8del
|
rs759775801
|
|
NM_052859.4(RFT1):c.697-11_697-10dup
|
|
|
NM_052859.4(RFT1):c.697-24GTTTT[2]
|
|
|
NM_052859.4(RFT1):c.697-24GTTTT[4]
|
rs763098152
|
|
NM_052859.4(RFT1):c.697-7_697-3del
|
rs1354146170
|
|
NM_052859.4(RFT1):c.699G>A (p.Ala233=)
|
rs763683975
|
|
NM_052859.4(RFT1):c.710G>A (p.Trp237Ter)
|
rs1408405816
|
|
NM_052859.4(RFT1):c.730T>A (p.Trp244Arg)
|
|
|
NM_052859.4(RFT1):c.738T>C (p.Phe246=)
|
|
|
NM_052859.4(RFT1):c.740dup (p.Lys248fs)
|
rs1701662808
|
|
NM_052859.4(RFT1):c.743_746del (p.Lys248fs)
|
rs773274468
|
|
NM_052859.4(RFT1):c.744A>G (p.Lys248=)
|
|
|
NM_052859.4(RFT1):c.749C>T (p.Ser250Phe)
|
rs1575494329
|
|
NM_052859.4(RFT1):c.74G>A (p.Arg25Gln)
|
|
|
NM_052859.4(RFT1):c.74G>T (p.Arg25Leu)
|
rs780107020
|
|
NM_052859.4(RFT1):c.760C>T (p.Gln254Ter)
|
rs185019792
|
|
NM_052859.4(RFT1):c.762G>A (p.Gln254=)
|
|
|
NM_052859.4(RFT1):c.775+20G>A
|
rs961442737
|
|
NM_052859.4(RFT1):c.775+20G>C
|
|
|
NM_052859.4(RFT1):c.775+3A>G
|
|
|
NM_052859.4(RFT1):c.775+9A>C
|
|
|
NM_052859.4(RFT1):c.775G>A (p.Gly259Ser)
|
rs1575494302
|
|
NM_052859.4(RFT1):c.776-13T>G
|
|
|
NM_052859.4(RFT1):c.776-16G>T
|
|
|
NM_052859.4(RFT1):c.776-5T>C
|
rs2107119402
|
|
NM_052859.4(RFT1):c.786T>C (p.Tyr262=)
|
|
|
NM_052859.4(RFT1):c.7A>G (p.Ser3Gly)
|
rs1201237484
|
|
NM_052859.4(RFT1):c.826+16G>A
|
|
|
NM_052859.4(RFT1):c.827-3dup
|
|
|
NM_052859.4(RFT1):c.827-6T>G
|
rs753486430
|
|
NM_052859.4(RFT1):c.840A>G (p.Ile280Met)
|
|
|
NM_052859.4(RFT1):c.886A>G (p.Ile296Val)
|
|
|
NM_052859.4(RFT1):c.887T>A (p.Ile296Lys)
|
rs772820136
|
|
NM_052859.4(RFT1):c.887T>G (p.Ile296Arg)
|
rs772820136
|
|
NM_052859.4(RFT1):c.892G>A (p.Glu298Lys)
|
rs796053521
|
|
NM_052859.4(RFT1):c.902A>G (p.Tyr301Cys)
|
rs913477149
|
|
NM_052859.4(RFT1):c.904A>G (p.Ile302Val)
|
|
|
NM_052859.4(RFT1):c.905del (p.Ile302fs)
|
rs2107115317
|
|
NM_052859.4(RFT1):c.945A>G (p.Thr315=)
|
|
|
NM_052859.4(RFT1):c.946C>T (p.Leu316Phe)
|
rs2107115119
|
|
NM_052859.4(RFT1):c.954G>A (p.Lys318=)
|
|
|
NM_052859.4(RFT1):c.957+1G>A
|
|
|
NM_052859.4(RFT1):c.957G>C (p.Gln319His)
|
rs886058724
|
|
NM_052859.4(RFT1):c.958-13_958-9del
|
|
|
NM_052859.4(RFT1):c.958-19C>G
|
|
|
NM_052859.4(RFT1):c.958-7G>C
|
rs997959901
|
|
NM_052859.4(RFT1):c.958-9T>G
|
|
|
NM_052859.4(RFT1):c.973G>A (p.Ala325Thr)
|
|
|
NM_052859.4(RFT1):c.979G>A (p.Ala327Thr)
|
rs745493847
|
|
NM_052859.4(RFT1):c.988G>C (p.Glu330Gln)
|
rs2107109292
|
|
NM_052859.4(RFT1):c.997C>T (p.Leu333Phe)
|
|
|
NM_138459.5(NUS1):c.-118_159del (p.Met1fs)
|
|
|
NM_138459.5(NUS1):c.105G>T (p.Trp35Cys)
|
|
|
NM_138459.5(NUS1):c.108C>G (p.Ile36Met)
|
|
|
NM_138459.5(NUS1):c.110G>A (p.Trp37Ter)
|
|
|
NM_138459.5(NUS1):c.114G>C (p.Arg38=)
|
|
|
NM_138459.5(NUS1):c.117C>G (p.Arg39=)
|
|
|
NM_138459.5(NUS1):c.117C>T (p.Arg39=)
|
rs1333336720
|
|
NM_138459.5(NUS1):c.119G>A (p.Cys40Tyr)
|
|
|
NM_138459.5(NUS1):c.119_132dup (p.Ser45fs)
|
|
|
NM_138459.5(NUS1):c.120C>T (p.Cys40=)
|
|
|
NM_138459.5(NUS1):c.123C>G (p.Cys41Trp)
|
rs914678907
|
|
NM_138459.5(NUS1):c.124C>T (p.Arg42Cys)
|
|
|
NM_138459.5(NUS1):c.125G>C (p.Arg42Pro)
|
|
|
NM_138459.5(NUS1):c.127G>A (p.Ala43Thr)
|
rs1327892878
|
|
NM_138459.5(NUS1):c.130G>A (p.Ala44Thr)
|
|
|
NM_138459.5(NUS1):c.133T>C (p.Ser45Pro)
|
|
|
NM_138459.5(NUS1):c.136G>C (p.Ala46Pro)
|
|
|
NM_138459.5(NUS1):c.138C>G (p.Ala46=)
|
|
|
NM_138459.5(NUS1):c.156C>G (p.Leu52=)
|
|
|
NM_138459.5(NUS1):c.158G>A (p.Gly53Asp)
|
|
|
NM_138459.5(NUS1):c.15C>A (p.Tyr5Ter)
|
rs1449400618
|
|
NM_138459.5(NUS1):c.165G>A (p.Thr55=)
|
|
|
NM_138459.5(NUS1):c.169C>T (p.Arg57Cys)
|
|
|
NM_138459.5(NUS1):c.170G>T (p.Arg57Leu)
|
|
|
NM_138459.5(NUS1):c.175C>T (p.Pro59Ser)
|
rs764639190
|
|
NM_138459.5(NUS1):c.178C>G (p.Pro60Ala)
|
|
|
NM_138459.5(NUS1):c.178C>T (p.Pro60Ser)
|
|
|
NM_138459.5(NUS1):c.17_40del (p.Glu6_His13del)
|
|
|
NM_138459.5(NUS1):c.180G>A (p.Pro60=)
|
rs1772967652
|
|
NM_138459.5(NUS1):c.18G>T (p.Glu6Asp)
|
|
|
NM_138459.5(NUS1):c.195C>T (p.Asn65=)
|
|
|
NM_138459.5(NUS1):c.197G>A (p.Arg66His)
|
|
|
NM_138459.5(NUS1):c.198_199delinsAT (p.Arg67Cys)
|
rs1562172820
|
|
NM_138459.5(NUS1):c.199C>T (p.Arg67Cys)
|
|
|
NM_138459.5(NUS1):c.200G>C (p.Arg67Pro)
|
|
|
NM_138459.5(NUS1):c.204C>T (p.His68=)
|
|
|
NM_138459.5(NUS1):c.209G>A (p.Arg70Gln)
|
|
|
NM_138459.5(NUS1):c.214C>A (p.Pro72Thr)
|
rs1460197813
|
|
NM_138459.5(NUS1):c.214C>T (p.Pro72Ser)
|
|
|
NM_138459.5(NUS1):c.215C>T (p.Pro72Leu)
|
|
|
NM_138459.5(NUS1):c.216G>A (p.Pro72=)
|
|
|
NM_138459.5(NUS1):c.220G>T (p.Gly74Trp)
|
|
|
NM_138459.5(NUS1):c.221G>A (p.Gly74Glu)
|
|
|
NM_138459.5(NUS1):c.223G>T (p.Gly75Trp)
|
|
|
NM_138459.5(NUS1):c.225G>C (p.Gly75=)
|
|
|
NM_138459.5(NUS1):c.225del (p.Ser76fs)
|
|
|
NM_138459.5(NUS1):c.226T>G (p.Ser76Ala)
|
|
|
NM_138459.5(NUS1):c.22G>T (p.Val8Leu)
|
|
|
NM_138459.5(NUS1):c.231C>T (p.Cys77=)
|
|
|
NM_138459.5(NUS1):c.234_280dup (p.Leu94fs)
|
|
|
NM_138459.5(NUS1):c.236C>T (p.Ala79Val)
|
|
|
NM_138459.5(NUS1):c.240C>A (p.Ala80=)
|
|
|
NM_138459.5(NUS1):c.240C>G (p.Ala80=)
|
|
|
NM_138459.5(NUS1):c.243A>G (p.Ala81=)
|
|
|
NM_138459.5(NUS1):c.249C>T (p.His83=)
|
|
|
NM_138459.5(NUS1):c.24G>T (p.Val8=)
|
rs745434007
|
|
NM_138459.5(NUS1):c.250dup (p.Arg84fs)
|
|
|
NM_138459.5(NUS1):c.254T>A (p.Met85Lys)
|
|
|
NM_138459.5(NUS1):c.270C>T (p.Asp90=)
|
|
|
NM_138459.5(NUS1):c.274C>A (p.Arg92Ser)
|
|
|
NM_138459.5(NUS1):c.274C>G (p.Arg92Gly)
|
|
|
NM_138459.5(NUS1):c.276T>C (p.Arg92=)
|
|
|
NM_138459.5(NUS1):c.277T>A (p.Ser93Thr)
|
|
|
NM_138459.5(NUS1):c.277T>G (p.Ser93Ala)
|
|
|
NM_138459.5(NUS1):c.280T>C (p.Leu94=)
|
|
|
NM_138459.5(NUS1):c.28C>T (p.Arg10Trp)
|
|
|
NM_138459.5(NUS1):c.291G>A (p.Leu97=)
|
|
|
NM_138459.5(NUS1):c.299A>C (p.His100Pro)
|
|
|
NM_138459.5(NUS1):c.29_52dup (p.Cys17_Leu18insArgValLeuHisAlaLeuLeuCys)
|
|
|
NM_138459.5(NUS1):c.301A>G (p.Met101Val)
|
|
|
NM_138459.5(NUS1):c.302T>C (p.Met101Thr)
|
|
|
NM_138459.5(NUS1):c.304G>A (p.Gly102Ser)
|
|
|
NM_138459.5(NUS1):c.307C>G (p.Leu103Val)
|
|
|
NM_138459.5(NUS1):c.308T>G (p.Leu103Arg)
|
|
|
NM_138459.5(NUS1):c.30G>A (p.Arg10=)
|
|
|
NM_138459.5(NUS1):c.30G>T (p.Arg10=)
|
rs937504375
|
|
NM_138459.5(NUS1):c.313A>G (p.Ile105Val)
|
|
|
NM_138459.5(NUS1):c.329A>G (p.Gln110Arg)
|
|
|
NM_138459.5(NUS1):c.336C>T (p.Pro112=)
|
|
|
NM_138459.5(NUS1):c.346G>C (p.Asp116His)
|
|
|
NM_138459.5(NUS1):c.351C>T (p.Ile117=)
|
|
|
NM_138459.5(NUS1):c.352G>T (p.Ala118Ser)
|
|
|
NM_138459.5(NUS1):c.353C>A (p.Ala118Glu)
|
rs2114674826
|
|
NM_138459.5(NUS1):c.354G>A (p.Ala118=)
|
|
|
NM_138459.5(NUS1):c.35T>C (p.Leu12Pro)
|
|
|
NM_138459.5(NUS1):c.360C>A (p.Leu120=)
|
rs1772974013
|
|
NM_138459.5(NUS1):c.368_372del (p.Trp123fs)
|
|
|
NM_138459.5(NUS1):c.36G>A (p.Leu12=)
|
rs2114674325
|
|
NM_138459.5(NUS1):c.370T>A (p.Cys124Ser)
|
|
|
NM_138459.5(NUS1):c.378del (p.Val127fs)
|
|
|
NM_138459.5(NUS1):c.383G>A (p.Gly128Asp)
|
|
|
NM_138459.5(NUS1):c.385A>G (p.Ile129Val)
|
|
|
NM_138459.5(NUS1):c.390C>G (p.Ser130=)
|
|
|
NM_138459.5(NUS1):c.390C>T (p.Ser130=)
|
|
|
NM_138459.5(NUS1):c.393C>T (p.Tyr131=)
|
rs1485120199
|
|
NM_138459.5(NUS1):c.39C>T (p.His13=)
|
|
|
NM_138459.5(NUS1):c.3G>A (p.Met1Ile)
|
|
|
NM_138459.5(NUS1):c.413A>G (p.Gln138Arg)
|
rs2114674884
|
|
NM_138459.5(NUS1):c.415+2T>G
|
|
|
NM_138459.5(NUS1):c.415G>A (p.Gly139Ser)
|
|
|
NM_138459.5(NUS1):c.416-11C>T
|
|
|
NM_138459.5(NUS1):c.416-23_416-7del
|
rs780531527
|
|
NM_138459.5(NUS1):c.416-6T>C
|
rs754507170
|
|
NM_138459.5(NUS1):c.416-6T>G
|
rs754507170
|
|
NM_138459.5(NUS1):c.416G>A (p.Gly139Asp)
|
rs2114686687
|
|
NM_138459.5(NUS1):c.417T>C (p.Gly139=)
|
|
|
NM_138459.5(NUS1):c.418A>G (p.Ile140Val)
|
|
|
NM_138459.5(NUS1):c.420T>G (p.Ile140Met)
|
rs1263100166
|
|
NM_138459.5(NUS1):c.422T>G (p.Phe141Cys)
|
|
|
NM_138459.5(NUS1):c.437C>A (p.Ser146Tyr)
|
|
|
NM_138459.5(NUS1):c.446T>C (p.Met149Thr)
|
|
|
NM_138459.5(NUS1):c.459A>G (p.Leu153=)
|
rs2114686717
|
|
NM_138459.5(NUS1):c.45G>C (p.Leu15=)
|
|
|
NM_138459.5(NUS1):c.45G>T (p.Leu15=)
|
|
|
NM_138459.5(NUS1):c.475C>T (p.Leu159Phe)
|
|
|
NM_138459.5(NUS1):c.480G>A (p.Leu160=)
|
rs2114686734
|
|
NM_138459.5(NUS1):c.482del (p.Gly161fs)
|
|
|
NM_138459.5(NUS1):c.498A>T (p.Lys166Asn)
|
rs1392457084
|
|
NM_138459.5(NUS1):c.49T>C (p.Cys17Arg)
|
|
|
NM_138459.5(NUS1):c.500A>G (p.Tyr167Cys)
|
|
|
NM_138459.5(NUS1):c.502T>C (p.Ser168Pro)
|
|
|
NM_138459.5(NUS1):c.502T>G (p.Ser168Ala)
|
|
|
NM_138459.5(NUS1):c.508G>A (p.Glu170Lys)
|
|
|
NM_138459.5(NUS1):c.519T>C (p.Asn173=)
|
|
|
NM_138459.5(NUS1):c.521G>A (p.Ser174Asn)
|
|
|
NM_138459.5(NUS1):c.523A>G (p.Asn175Asp)
|
rs28362518
|
|
NM_138459.5(NUS1):c.523A>T (p.Asn175Tyr)
|
rs28362518
|
|
NM_138459.5(NUS1):c.524A>G (p.Asn175Ser)
|
rs1438675724
|
|
NM_138459.5(NUS1):c.52C>G (p.Leu18Val)
|
rs1772962465
|
|
NM_138459.5(NUS1):c.540A>G (p.Gln180=)
|
|
|
NM_138459.5(NUS1):c.541+10A>C
|
rs1051471000
|
|
NM_138459.5(NUS1):c.541+5G>T
|
|
|
NM_138459.5(NUS1):c.541+8T>C
|
rs1250234517
|
|
NM_138459.5(NUS1):c.542-14_542-11del
|
rs777604444
|
|
NM_138459.5(NUS1):c.542-1G>T
|
|
|
NM_138459.5(NUS1):c.542-20T>C
|
|
|
NM_138459.5(NUS1):c.542-9T>A
|
|
|
NM_138459.5(NUS1):c.542-9T>C
|
|
|
NM_138459.5(NUS1):c.548A>G (p.Asn183Ser)
|
rs2114687377
|
|
NM_138459.5(NUS1):c.554A>T (p.His185Leu)
|
|
|
NM_138459.5(NUS1):c.561A>T (p.Ala187=)
|
rs767054326
|
|
NM_138459.5(NUS1):c.565A>T (p.Lys189Ter)
|
|
|
NM_138459.5(NUS1):c.567G>A (p.Lys189=)
|
|
|
NM_138459.5(NUS1):c.56A>T (p.His19Leu)
|
|
|
NM_138459.5(NUS1):c.573G>A (p.Leu191=)
|
rs1052232
|
|
NM_138459.5(NUS1):c.573G>T (p.Leu191=)
|
|
|
NM_138459.5(NUS1):c.577C>G (p.Pro193Ala)
|
|
|
NM_138459.5(NUS1):c.57C>G (p.His19Gln)
|
|
|
NM_138459.5(NUS1):c.57C>T (p.His19=)
|
|
|
NM_138459.5(NUS1):c.580G>A (p.Glu194Lys)
|
|
|
NM_138459.5(NUS1):c.585T>C (p.Asp195=)
|
|
|
NM_138459.5(NUS1):c.596A>C (p.Asp199Ala)
|
rs765038821
|
|
NM_138459.5(NUS1):c.596A>G (p.Asp199Gly)
|
|
|
NM_138459.5(NUS1):c.598A>G (p.Ile200Val)
|
|
|
NM_138459.5(NUS1):c.599T>C (p.Ile200Thr)
|
|
|
NM_138459.5(NUS1):c.59G>C (p.Arg20Pro)
|
|
|
NM_138459.5(NUS1):c.601G>T (p.Val201Leu)
|
|
|
NM_138459.5(NUS1):c.612T>C (p.Ala204=)
|
rs1382268428
|
|
NM_138459.5(NUS1):c.613C>G (p.Gln205Glu)
|
rs2114687441
|
|
NM_138459.5(NUS1):c.621T>C (p.Phe207=)
|
|
|
NM_138459.5(NUS1):c.627G>A (p.Gln209=)
|
|
|
NM_138459.5(NUS1):c.627G>T (p.Gln209His)
|
|
|
NM_138459.5(NUS1):c.634G>T (p.Ala212Ser)
|
|
|
NM_138459.5(NUS1):c.63G>C (p.Thr21=)
|
rs550854234
|
|
NM_138459.5(NUS1):c.646A>G (p.Lys216Glu)
|
|
|
NM_138459.5(NUS1):c.648G>A (p.Lys216=)
|
|
|
NM_138459.5(NUS1):c.650G>T (p.Arg217Ile)
|
rs375663235
|
|
NM_138459.5(NUS1):c.669A>T (p.Val223=)
|
|
|
NM_138459.5(NUS1):c.66C>A (p.Leu22=)
|
rs1772962927
|
|
NM_138459.5(NUS1):c.671A>G (p.Asp224Gly)
|
rs2114687510
|
|
NM_138459.5(NUS1):c.676T>C (p.Leu226=)
|
rs1773283339
|
|
NM_138459.5(NUS1):c.679G>C (p.Ala227Pro)
|
|
|
NM_138459.5(NUS1):c.681C>G (p.Ala227=)
|
|
|
NM_138459.5(NUS1):c.684T>A (p.Ser228Arg)
|
|
|
NM_138459.5(NUS1):c.68C>T (p.Thr23Ile)
|
|
|
NM_138459.5(NUS1):c.68CCT[1] (p.Ser24del)
|
|
|
NM_138459.5(NUS1):c.691+12T>A
|
rs761687791
|
|
NM_138459.5(NUS1):c.691+12T>G
|
rs761687791
|
|
NM_138459.5(NUS1):c.691+12TA[7]
|
rs770616856
|
|
NM_138459.5(NUS1):c.691+12dup
|
rs1241006666
|
|
NM_138459.5(NUS1):c.691+19A>G
|
rs1342549880
|
|
NM_138459.5(NUS1):c.691+7T>G
|
rs1373920649
|
|
NM_138459.5(NUS1):c.691+8T>G
|
|
|
NM_138459.5(NUS1):c.692-18TATT[2]
|
|
|
NM_138459.5(NUS1):c.692-1G>A
|
rs1582477100
|
|
NM_138459.5(NUS1):c.692-2A>G
|
rs2114693876
|
|
NM_138459.5(NUS1):c.695C>G (p.Ser232Ter)
|
|
|
NM_138459.5(NUS1):c.697A>G (p.Asn233Asp)
|
rs779757878
|
|
NM_138459.5(NUS1):c.6G>C (p.Thr2=)
|
|
|
NM_138459.5(NUS1):c.719T>G (p.Leu240Ter)
|
rs2114693896
|
|
NM_138459.5(NUS1):c.745A>G (p.Ser249Gly)
|
rs2114693915
|
|
NM_138459.5(NUS1):c.74G>A (p.Trp25Ter)
|
rs1772963498
|
|
NM_138459.5(NUS1):c.74_75delinsAA (p.Trp25Ter)
|
rs2114674385
|
|
NM_138459.5(NUS1):c.750A>G (p.Thr250=)
|
|
|
NM_138459.5(NUS1):c.756C>T (p.Gly252=)
|
|
|
NM_138459.5(NUS1):c.758T>C (p.Phe253Ser)
|
|
|
NM_138459.5(NUS1):c.762T>G (p.Leu254=)
|
rs2114693923
|
|
NM_138459.5(NUS1):c.765C>T (p.Pro255=)
|
|
|
NM_138459.5(NUS1):c.765_769dup (p.His257fs)
|
rs2114693926
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NM_138459.5(NUS1):c.76C>T (p.Leu26Phe)
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NM_138459.5(NUS1):c.788T>C (p.Ile263Thr)
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NM_138459.5(NUS1):c.791+16C>G
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NM_138459.5(NUS1):c.791+16C>T
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NM_138459.5(NUS1):c.791+6T>C
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NM_138459.5(NUS1):c.791+7A>G
|
rs749556280
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NM_138459.5(NUS1):c.791+7A>T
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NM_138459.5(NUS1):c.791+9_791+12del
|
rs1213017281
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NM_138459.5(NUS1):c.792-13G>T
|
rs1185248187
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NM_138459.5(NUS1):c.792-18C>T
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NM_138459.5(NUS1):c.792-19C>T
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NM_138459.5(NUS1):c.792-20C>T
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NM_138459.5(NUS1):c.792-3C>G
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NM_138459.5(NUS1):c.796T>C (p.Leu266=)
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NM_138459.5(NUS1):c.7G>A (p.Gly3Arg)
|
rs1772960680
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NM_138459.5(NUS1):c.803C>A (p.Ser268Tyr)
|
rs1554202852
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NM_138459.5(NUS1):c.807C>T (p.His269=)
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NM_138459.5(NUS1):c.810A>G (p.Leu270=)
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NM_138459.5(NUS1):c.825G>A (p.Glu275=)
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NM_138459.5(NUS1):c.828C>T (p.Asp276=)
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NM_138459.5(NUS1):c.836_837dup (p.Ala280fs)
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NM_138459.5(NUS1):c.842T>C (p.Leu281Pro)
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NM_138459.5(NUS1):c.844C>G (p.Arg282Gly)
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NM_138459.5(NUS1):c.849A>G (p.Gln283=)
|
rs550676
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NM_138459.5(NUS1):c.867G>A (p.Gln289=)
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NM_138459.5(NUS1):c.868C>T (p.Arg290Cys)
|
rs2114696019
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NM_138459.5(NUS1):c.869G>A (p.Arg290His)
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rs886037858
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NM_138459.5(NUS1):c.875G>A (p.Gly292Glu)
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NM_138459.5(NUS1):c.881A>G (p.Ter294Trp)
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rs2114696027
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NM_138459.5(NUS1):c.882G>A (p.Ter294=)
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NM_138459.5(NUS1):c.90C>T (p.Phe30=)
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NM_138459.5(NUS1):c.93_101delinsAGCCAGGAACTGGAT (p.Thr32_Asn34delinsAlaArgAsnTrpIle)
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NM_138459.5(NUS1):c.94A>G (p.Thr32Ala)
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NM_138459.5(NUS1):c.94_101del (p.Thr32fs)
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NM_138459.5(NUS1):c.95C>T (p.Thr32Ile)
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NM_138459.5(NUS1):c.97T>C (p.Trp33Arg)
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NM_138459.5(NUS1):c.99dup (p.Asn34fs)
|
rs1582461023
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NM_152713.5(STT3A):c.1775-8dup
|
rs750373548
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NM_152713.5(STT3A):c.1877T>C (p.Val626Ala)
|
rs587777216
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NM_152713.5(STT3A):c.415A>C (p.Lys139Gln)
|
rs1939729667
|
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NM_153741.2(DPM3):c.104A>G (p.Gln35Arg)
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NM_153741.2(DPM3):c.111C>T (p.Val37=)
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rs2102491788
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NM_153741.2(DPM3):c.11T>C (p.Leu4Ser)
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NM_153741.2(DPM3):c.124C>G (p.Pro42Ala)
|
rs745692004
|
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NM_153741.2(DPM3):c.176A>C (p.Tyr59Ser)
|
rs1055439022
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NM_153741.2(DPM3):c.179del (p.Arg60fs)
|
|
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NM_153741.2(DPM3):c.184G>C (p.Ala62Pro)
|
rs2102491677
|
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NM_153741.2(DPM3):c.185C>T (p.Ala62Val)
|
rs1553190791
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NM_153741.2(DPM3):c.193C>T (p.His65Tyr)
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|
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NM_153741.2(DPM3):c.19T>C (p.Trp7Arg)
|
rs1664705696
|
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NM_153741.2(DPM3):c.205del (p.Asp69fs)
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|
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NM_153741.2(DPM3):c.215G>A (p.Arg72His)
|
|
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NM_153741.2(DPM3):c.21G>A (p.Trp7Ter)
|
rs1444066075
|
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NM_153741.2(DPM3):c.21G>C (p.Trp7Cys)
|
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NM_153741.2(DPM3):c.229C>T (p.Gln77Ter)
|
rs2102491600
|
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NM_153741.2(DPM3):c.244C>T (p.Arg82Ter)
|
rs749000879
|
|
NM_153741.2(DPM3):c.254T>A (p.Leu85Ter)
|
rs121908155
|
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NM_153741.2(DPM3):c.254T>C (p.Leu85Ser)
|
rs121908155
|
|
NM_153741.2(DPM3):c.257C>A (p.Ala86Asp)
|
rs752119871
|
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NM_153741.2(DPM3):c.27G>A (p.Trp9Ter)
|
|
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NM_153741.2(DPM3):c.28G>C (p.Gly10Arg)
|
rs367584459
|
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NM_153741.2(DPM3):c.29G>A (p.Gly10Glu)
|
rs2102491894
|
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NM_153741.2(DPM3):c.39C>T (p.Ile13=)
|
|
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NM_153741.2(DPM3):c.42G>A (p.Leu14=)
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|
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NM_153741.2(DPM3):c.44G>T (p.Gly15Val)
|
rs372215837
|
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NM_153741.2(DPM3):c.48C>T (p.Ser16=)
|
rs753265590
|
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NM_153741.2(DPM3):c.59C>T (p.Ala20Val)
|
|
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NM_153741.2(DPM3):c.5del (p.Thr2fs)
|
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NM_153741.2(DPM3):c.6G>A (p.Thr2=)
|
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NM_153741.2(DPM3):c.81C>T (p.Gly27=)
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|
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NM_153741.2(DPM3):c.95T>C (p.Leu32Ser)
|
rs959102245
|
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NM_178862.3(STT3B):c.1014G>T (p.Gln338His)
|
|
|
NM_178862.3(STT3B):c.1073C>T (p.Ser358Leu)
|
|
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NM_178862.3(STT3B):c.1102G>T (p.Val368Phe)
|
|
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NM_178862.3(STT3B):c.1170T>C (p.Thr390=)
|
rs753179796
|
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NM_178862.3(STT3B):c.11C>T (p.Pro4Leu)
|
rs1250170448
|
|
NM_178862.3(STT3B):c.1263T>G (p.Leu421=)
|
|
|
NM_178862.3(STT3B):c.13T>C (p.Ser5Pro)
|
|
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NM_178862.3(STT3B):c.1500T>C (p.Asp500=)
|
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NM_178862.3(STT3B):c.1533T>C (p.Tyr511=)
|
|
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NM_178862.3(STT3B):c.1562C>T (p.Ala521Val)
|
|
|
NM_178862.3(STT3B):c.1612A>G (p.Ile538Val)
|
|
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NM_178862.3(STT3B):c.1638A>G (p.Leu546=)
|
|
|
NM_178862.3(STT3B):c.1725T>C (p.Asp575=)
|
rs1699478483
|
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NM_178862.3(STT3B):c.1727+15C>T
|
|
|
NM_178862.3(STT3B):c.1837G>A (p.Gly613Arg)
|
|
|
NM_178862.3(STT3B):c.1899+15_1899+16del
|
rs764481566
|
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NM_178862.3(STT3B):c.1900-11A>T
|
|
|
NM_178862.3(STT3B):c.1900-12T>A
|
|
|
NM_178862.3(STT3B):c.1948A>G (p.Arg650Gly)
|
rs755361919
|
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NM_178862.3(STT3B):c.201G>C (p.Gly67=)
|
|
|
NM_178862.3(STT3B):c.2071C>T (p.Arg691Trp)
|
|
|
NM_178862.3(STT3B):c.2072G>A (p.Arg691Gln)
|
rs949533229
|
|
NM_178862.3(STT3B):c.225C>T (p.Thr75=)
|
rs564276250
|
|
NM_178862.3(STT3B):c.2349C>A (p.His783Gln)
|
|
|
NM_178862.3(STT3B):c.2349C>T (p.His783=)
|
|
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NM_178862.3(STT3B):c.2361C>A (p.Val787=)
|
|
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NM_178862.3(STT3B):c.2378A>C (p.Lys793Thr)
|
|
|
NM_178862.3(STT3B):c.2401-17_2401-16del
|
|
|
NM_178862.3(STT3B):c.2401-5dup
|
|
|
NM_178862.3(STT3B):c.264C>T (p.Arg88=)
|
rs2125430322
|
|
NM_178862.3(STT3B):c.307G>T (p.Asp103Tyr)
|
rs2125430351
|
|
NM_178862.3(STT3B):c.32A>G (p.His11Arg)
|
|
|
NM_178862.3(STT3B):c.33C>T (p.His11=)
|
|
|
NM_178862.3(STT3B):c.387A>C (p.Arg129Ser)
|
|
|
NM_178862.3(STT3B):c.38C>G (p.Ser13Trp)
|
rs1696976315
|
|
NM_178862.3(STT3B):c.424-5C>T
|
rs1488969630
|
|
NM_178862.3(STT3B):c.448G>T (p.Ala150Ser)
|
|
|
NM_178862.3(STT3B):c.496A>G (p.Ile166Val)
|
|
|
NM_178862.3(STT3B):c.525A>G (p.Pro175=)
|
|
|
NM_178862.3(STT3B):c.598T>C (p.Leu200=)
|
|
|
NM_178862.3(STT3B):c.601G>A (p.Ala201Thr)
|
|
|
NM_178862.3(STT3B):c.765C>G (p.Ser255=)
|
rs1698803700
|
|
NM_178862.3(STT3B):c.778-12C>A
|
|
|
NM_178862.3(STT3B):c.778-3T>C
|
|
|
NM_178862.3(STT3B):c.812A>G (p.Asn271Ser)
|
|
|
NM_178862.3(STT3B):c.878-15A>G
|
rs761971315
|
|
NM_178862.3(STT3B):c.887C>G (p.Thr296Ser)
|
rs375479861
|
|
NM_178862.3(STT3B):c.976+5G>T
|
|
|
NM_178862.3(STT3B):c.976+7A>T
|
rs2125471874
|
|
NM_201400.4(EEF2KMT):c.*1074C>T
|
rs1957081691
|
|
NM_201400.4(EEF2KMT):c.*885G>A
|
rs780078713
|
|
NM_201400.4(EEF2KMT):c.*891A>T
|
rs3187779
|
|
NM_201400.4(EEF2KMT):c.*892A>C
|
|
|
NM_201400.4(EEF2KMT):c.*893del
|
rs1381360907
|
|
NM_201400.4(EEF2KMT):c.*893dup
|
|
|
NM_201400.4(EEF2KMT):c.*894T>A
|
|
|
NM_201400.4(EEF2KMT):c.*898G>C
|
|
|
NM_201400.4(EEF2KMT):c.*899A>T
|
|
|
NM_201400.4(EEF2KMT):c.*899del
|
|
|
NM_201400.4(EEF2KMT):c.*900G>C
|
rs2142732074
|
|
PGM1, ARG521TER
|
|
|
Single allele
|
|
|