NM_024740.2(ALG9):c.132-12dup
|
rs1555157381
|
0.46207
|
NM_002633.3(PGM1):c.661C>T (p.Arg221Cys)
|
rs1126728
|
0.22903
|
NM_002633.3(PGM1):c.*198C>T
|
rs10909
|
0.18377
|
NM_002633.3(PGM1):c.*93A>C
|
rs4643
|
0.17191
|
NM_019109.5(ALG1):c.800G>A (p.Ser267Asn)
|
rs17849848
|
0.06910
|
NM_002633.3(PGM1):c.1501G>A (p.Val501Ile)
|
rs6676290
|
0.04986
|
NM_001004127.3(ALG11):c.44+324T>C
|
rs77505745
|
0.04331
|
NM_001004127.3(ALG11):c.44+154G>A
|
rs111871296
|
0.04085
|
NM_002633.3(PGM1):c.1145-7C>G
|
rs72922609
|
0.04055
|
NM_000303.3(PMM2):c.*1360C>T
|
rs72766381
|
0.03294
|
NM_013339.4(ALG6):c.391T>C (p.Tyr131His)
|
rs35383149
|
0.02935
|
NM_002633.3(PGM1):c.1280+7C>T
|
rs72922610
|
0.02818
|
NM_002633.3(PGM1):c.*37G>A
|
rs61765314
|
0.02669
|
NM_002633.3(PGM1):c.399T>C (p.Ile133=)
|
rs1126727
|
0.02624
|
NM_024592.5(SRD5A3):c.*275G>T
|
rs145768388
|
0.02343
|
NM_000303.3(PMM2):c.590A>C (p.Glu197Ala)
|
rs34258285
|
0.02088
|
NM_014908.4(DOLK):c.-49A>G
|
rs116439010
|
0.01852
|
NM_024740.2(ALG9):c.*1220C>T
|
rs114406340
|
0.01795
|
NM_000303.3(PMM2):c.*534G>A
|
rs2447929
|
0.01770
|
NM_002633.3(PGM1):c.1500C>T (p.Ile500=)
|
rs61737416
|
0.01523
|
NM_024079.5(ALG8):c.803G>A (p.Arg268Gln)
|
rs61995925
|
0.01476
|
NM_052859.4(RFT1):c.64-14C>T
|
rs78419624
|
0.01456
|
NM_001382.4(DPAGT1):c.*427T>G
|
rs28990975
|
0.01379
|
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_013339.4(ALG6):c.1357C>G (p.Leu453Val)
|
rs41285372
|
0.01295
|
NM_003863.3(DPM2):c.-382C>T
|
rs112813338
|
0.01257
|
NM_024740.2(ALG9):c.764C>T (p.Ser255Leu)
|
rs17113312
|
0.01232
|
NM_013339.4(ALG6):c.*268C>T
|
rs114111123
|
0.01221
|
NM_005787.6(ALG3):c.319A>G (p.Ile107Val)
|
rs2233463
|
0.01115
|
NM_003863.4(DPM2):c.183G>A (p.Leu61=)
|
rs11552794
|
0.01027
|
NM_013339.4(ALG6):c.-121T>G
|
rs116034504
|
0.00994
|
NM_003863.4(DPM2):c.177C>T (p.Leu59=)
|
rs35334863
|
0.00922
|
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_024592.5(SRD5A3):c.*2984A>G
|
rs73816266
|
0.00855
|
NM_013339.4(ALG6):c.*1415T>G
|
rs148327539
|
0.00827
|
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_024079.5(ALG8):c.175-18C>A
|
rs73501260
|
0.00743
|
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_001099922.3(ALG13):c.1152G>A (p.Ala384=)
|
rs145353928
|
0.00643
|
NM_024079.5(ALG8):c.896T>C (p.Ile299Thr)
|
rs61995922
|
0.00615
|
NM_002435.3(MPI):c.982C>T (p.Arg328Trp)
|
rs117089191
|
0.00577
|
NM_024105.4(ALG12):c.645G>A (p.Pro215=)
|
rs12167668
|
0.00577
|
NM_004341.5(CAD):c.4930T>C (p.Phe1644Leu)
|
rs144692793
|
0.00569
|
NM_004341.5(CAD):c.5058C>T (p.Asp1686=)
|
rs61757649
|
0.00528
|
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_000303.3(PMM2):c.*915T>A
|
rs114954775
|
0.00441
|
NM_013339.4(ALG6):c.*1136C>T
|
rs143324400
|
0.00429
|
NM_013339.4(ALG6):c.*961C>T
|
rs144020923
|
0.00415
|
NM_021645.6(UTP14C):c.-42G>A
|
rs140978619
|
0.00414
|
NM_001099922.3(ALG13):c.3039A>G (p.Val1013=)
|
rs183032531
|
0.00394
|
NM_024105.4(ALG12):c.48G>C (p.Leu16=)
|
rs143508665
|
0.00377
|
NM_019109.5(ALG1):c.539+16G>A
|
rs189715949
|
0.00311
|
NM_001099922.3(ALG13):c.2799T>A (p.Pro933=)
|
rs13440710
|
0.00296
|
NM_033087.4(ALG2):c.349-17A>G
|
rs193069827
|
0.00275
|
NM_019109.5(ALG1):c.867C>T (p.Asp289=)
|
rs144029725
|
0.00265
|
NM_024740.2(ALG9):c.132-16T>G
|
rs781960988
|
0.00248
|
NM_019109.4(ALG1):c.191C>A (p.Thr64Asn)
|
rs145474820
|
0.00246
|
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_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_052859.4(RFT1):c.382C>T (p.Leu128Phe)
|
rs140127085
|
0.00219
|
NM_052859.4(RFT1):c.1118G>A (p.Arg373His)
|
rs77976718
|
0.00211
|
NM_052859.4(RFT1):c.5G>A (p.Gly2Asp)
|
rs185366134
|
0.00187
|
NM_024740.2(ALG9):c.1538C>T (p.Pro513Leu)
|
rs185149177
|
0.00186
|
NM_005787.6(ALG3):c.1271C>T (p.Pro424Leu)
|
rs79144888
|
0.00178
|
NM_001382.4(DPAGT1):c.994T>G (p.Phe332Val)
|
rs138544311
|
0.00172
|
NM_003859.3(DPM1):c.40C>T (p.Arg14Trp)
|
rs117175017
|
0.00169
|
NM_005216.5(DDOST):c.1148C>T (p.Thr383Ile)
|
rs145940009
|
0.00165
|
NM_024079.5(ALG8):c.96-6G>C
|
rs199911532
|
0.00160
|
NM_001004127.3(ALG11):c.44+20G>T
|
rs200503510
|
0.00153
|
NM_052859.4(RFT1):c.1400T>G (p.Leu467Arg)
|
rs144042263
|
0.00140
|
NM_004341.5(CAD):c.83-3C>T
|
rs151119882
|
0.00138
|
NM_002435.3(MPI):c.10C>T (p.Pro4Ser)
|
rs143982014
|
0.00133
|
NM_024740.2(ALG9):c.1792T>C (p.Tyr598His)
|
rs201194863
|
0.00128
|
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_004870.4(MPDU1):c.43C>T (p.Pro15Ser)
|
rs148935720
|
0.00116
|
NM_138459.5(NUS1):c.506C>G (p.Pro169Arg)
|
rs150646335
|
0.00116
|
NM_024592.5(SRD5A3):c.110C>T (p.Pro37Leu)
|
rs199975696
|
0.00114
|
NM_014908.4(DOLK):c.1079A>G (p.Tyr360Cys)
|
rs138453255
|
0.00111
|
NM_052859.4(RFT1):c.303C>G (p.Gly101=)
|
rs148576979
|
0.00108
|
NM_024079.5(ALG8):c.1211C>T (p.Ser404Leu)
|
rs146603801
|
0.00103
|
NM_052859.4(RFT1):c.826+7T>C
|
rs192264403
|
0.00103
|
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_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_024079.5(ALG8):c.251A>G (p.Tyr84Cys)
|
rs61995921
|
0.00094
|
NM_019109.5(ALG1):c.21C>T (p.Val7=)
|
rs149388535
|
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_012463.4(ATP6V0A2):c.773A>G (p.Glu258Gly)
|
rs141467923
|
0.00087
|
NM_001099922.3(ALG13):c.1591T>C (p.Leu531=)
|
rs112837367
|
0.00085
|
NM_024105.4(ALG12):c.1299C>T (p.Leu433=)
|
rs150614794
|
0.00083
|
NM_012463.4(ATP6V0A2):c.1069A>T (p.Met357Leu)
|
rs146967928
|
0.00078
|
NM_021645.6(UTP14C):c.-486-6T>C
|
rs200751186
|
0.00078
|
NM_014908.4(DOLK):c.671A>T (p.Asp224Val)
|
rs17485436
|
0.00074
|
NM_001382.4(DPAGT1):c.918-4G>A
|
rs201656540
|
0.00073
|
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_005216.5(DDOST):c.148C>T (p.Leu50=)
|
rs143421115
|
0.00066
|
NM_001099922.3(ALG13):c.3093A>G (p.Gln1031=)
|
rs372260338
|
0.00065
|
NM_138459.5(NUS1):c.63G>T (p.Thr21=)
|
rs550854234
|
0.00065
|
NM_033087.4(ALG2):c.348+6G>A
|
rs368075764
|
0.00063
|
NM_024740.2(ALG9):c.945T>C (p.Asn315=)
|
rs185555263
|
0.00062
|
NM_001382.4(DPAGT1):c.330C>T (p.Phe110=)
|
rs199994118
|
0.00061
|
NM_024079.5(ALG8):c.682A>G (p.Ile228Val)
|
rs150736564
|
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_001099922.3(ALG13):c.2796A>T (p.Pro932=)
|
rs748742452
|
0.00058
|
NM_014908.4(DOLK):c.1114T>A (p.Phe372Ile)
|
rs146395561
|
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_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.869A>G (p.Asn290Ser)
|
rs61995923
|
0.00050
|
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_001099922.3(ALG13):c.2485A>G (p.Met829Val)
|
rs368075878
|
0.00046
|
NM_002435.3(MPI):c.670+11T>C
|
rs144118442
|
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_012463.4(ATP6V0A2):c.2384C>T (p.Ala795Val)
|
rs139509075
|
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_013339.4(ALG6):c.1452C>T (p.Phe484=)
|
rs150298974
|
0.00044
|
NM_014908.4(DOLK):c.1450A>G (p.Ile484Val)
|
rs147630977
|
0.00044
|
NM_001099922.3(ALG13):c.638G>A (p.Ser213Asn)
|
rs374748006
|
0.00040
|
NM_001099922.3(ALG13):c.2248-15G>C
|
rs139711892
|
0.00039
|
NM_005787.6(ALG3):c.16C>A (p.Arg6=)
|
rs199587005
|
0.00039
|
NM_002633.3(PGM1):c.1290C>T (p.Tyr430=)
|
rs140357031
|
0.00038
|
NM_012463.4(ATP6V0A2):c.954C>T (p.Asp318=)
|
rs75746974
|
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_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.371A>G (p.Tyr124Cys)
|
rs145518377
|
0.00035
|
NM_001382.4(DPAGT1):c.243C>T (p.Cys81=)
|
rs138519099
|
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_052859.4(RFT1):c.1356C>T (p.Arg452=)
|
rs113829901
|
0.00034
|
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_002435.3(MPI):c.214A>C (p.Ser72Arg)
|
rs146699267
|
0.00031
|
NM_024079.5(ALG8):c.1506C>T (p.Gly502=)
|
rs148820351
|
0.00031
|
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_012463.4(ATP6V0A2):c.1936-7C>T
|
rs370135665
|
0.00028
|
NM_000303.3(PMM2):c.366C>T (p.Phe122=)
|
rs145714866
|
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_002435.3(MPI):c.1050G>A (p.Thr350=)
|
rs145431554
|
0.00026
|
NM_002633.3(PGM1):c.1103C>T (p.Ala368Val)
|
rs145972303
|
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_002435.3(MPI):c.671-4T>G
|
rs199719453
|
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_002435.3(MPI):c.908T>C (p.Ile303Thr)
|
rs139866632
|
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_024105.4(ALG12):c.1068C>T (p.Ala356=)
|
rs371321442
|
0.00024
|
NM_024105.4(ALG12):c.470-11C>T
|
rs375328311
|
0.00024
|
NM_001099922.3(ALG13):c.3143C>G (p.Ala1048Gly)
|
rs773401427
|
0.00023
|
NM_002633.3(PGM1):c.735G>A (p.Ala245=)
|
rs146028700
|
0.00023
|
NM_019109.5(ALG1):c.540-13T>C
|
rs201477967
|
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_138459.5(NUS1):c.69C>G (p.Thr23=)
|
rs568916715
|
0.00022
|
NM_001099922.3(ALG13):c.2933-14A>G
|
rs755886617
|
0.00021
|
NM_001382.4(DPAGT1):c.250A>C (p.Lys84Gln)
|
rs112355069
|
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.894G>C (p.Arg298=)
|
rs145327708
|
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_052859.4(RFT1):c.831G>A (p.Val277=)
|
rs150391936
|
0.00021
|
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_000303.3(PMM2):c.90C>G (p.Asp30Glu)
|
rs201556985
|
0.00019
|
NM_001004127.3(ALG11):c.1452A>G (p.Leu484=)
|
rs188332164
|
0.00019
|
NM_012463.4(ATP6V0A2):c.1039-13G>T
|
rs375793162
|
0.00019
|
NM_024105.4(ALG12):c.1152C>G (p.Pro384=)
|
rs375721419
|
0.00019
|
NM_024592.5(SRD5A3):c.698-8C>T
|
rs369712923
|
0.00019
|
NM_005216.4(DDOST):c.16T>G (p.Cys6Gly)
|
rs149951380
|
0.00017
|
NM_024592.5(SRD5A3):c.43C>T (p.Leu15=)
|
rs376944136
|
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.900T>C (p.His300=)
|
rs145807501
|
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_052859.4(RFT1):c.149+16C>T
|
rs201161797
|
0.00016
|
NM_178862.3(STT3B):c.657C>T (p.Ser219=)
|
rs145698887
|
0.00016
|
NM_001099922.3(ALG13):c.2654T>C (p.Ile885Thr)
|
rs781459134
|
0.00015
|
NM_024105.4(ALG12):c.55G>A (p.Ala19Thr)
|
rs138266806
|
0.00015
|
NM_024740.2(ALG9):c.1356A>G (p.Glu452=)
|
rs200460892
|
0.00015
|
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_003859.3(DPM1):c.759A>G (p.Leu253=)
|
rs769964944
|
0.00014
|
NM_005216.5(DDOST):c.1221G>A (p.Ser407=)
|
rs142441124
|
0.00014
|
NM_005787.6(ALG3):c.606-8C>T
|
rs368253820
|
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.1747A>G (p.Ile583Val)
|
rs377397506
|
0.00013
|
NM_001099922.3(ALG13):c.1955G>A (p.Gly652Asp)
|
rs372209528
|
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_012463.4(ATP6V0A2):c.117+19A>T
|
rs746099453
|
0.00013
|
NM_013339.4(ALG6):c.903-13A>G
|
rs190744579
|
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.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.240C>T (p.Pro80=)
|
rs773878720
|
0.00013
|
NM_024592.5(SRD5A3):c.365-15C>T
|
rs369112025
|
0.00013
|
NM_024740.2(ALG9):c.1314A>G (p.Ala438=)
|
rs201611208
|
0.00013
|
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_014908.4(DOLK):c.1446G>A (p.Ala482=)
|
rs201027607
|
0.00012
|
NM_024105.4(ALG12):c.1428A>G (p.Thr476=)
|
rs191342997
|
0.00012
|
NM_052859.4(RFT1):c.1332G>A (p.Thr444=)
|
rs139487607
|
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_013339.4(ALG6):c.1032T>C (p.His344=)
|
rs146265933
|
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_024079.5(ALG8):c.1516G>A (p.Ala506Thr)
|
rs149692072
|
0.00011
|
NM_024105.4(ALG12):c.665-15A>G
|
rs373506247
|
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_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.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_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_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_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.789+11T>G
|
rs371939356
|
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.827-14T>C
|
rs571722733
|
0.00010
|
NM_001099922.3(ALG13):c.1834C>T (p.Pro612Ser)
|
rs200516126
|
0.00009
|
NM_001099922.3(ALG13):c.544T>A (p.Cys182Ser)
|
rs778876158
|
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.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_014908.4(DOLK):c.192A>G (p.Leu64=)
|
rs563156233
|
0.00009
|
NM_024079.5(ALG8):c.1178+7A>G
|
rs766278533
|
0.00009
|
NM_024105.4(ALG12):c.243G>A (p.Ala81=)
|
rs564172046
|
0.00009
|
NM_033087.4(ALG2):c.1038G>A (p.Ser346=)
|
rs200138333
|
0.00009
|
NM_052859.4(RFT1):c.165C>T (p.Tyr55=)
|
rs149529625
|
0.00009
|
NM_052859.4(RFT1):c.924G>A (p.Leu308=)
|
rs140603849
|
0.00009
|
NM_000303.3(PMM2):c.513G>A (p.Thr171=)
|
rs371399381
|
0.00008
|
NM_001099922.3(ALG13):c.2933-15G>T
|
rs372767806
|
0.00008
|
NM_001099922.3(ALG13):c.621A>T (p.Gly207=)
|
rs371428241
|
0.00008
|
NM_001099922.3(ALG13):c.975T>G (p.Thr325=)
|
rs767735916
|
0.00008
|
NM_001382.4(DPAGT1):c.717C>T (p.Leu239=)
|
rs377263230
|
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.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_024105.4(ALG12):c.768+10A>C
|
rs779065174
|
0.00008
|
NM_024105.4(ALG12):c.777G>A (p.Pro259=)
|
rs138060012
|
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_001099922.3(ALG13):c.288C>T (p.Leu96=)
|
rs369867857
|
0.00007
|
NM_002435.3(MPI):c.849C>T (p.Cys283=)
|
rs377419930
|
0.00007
|
NM_003859.3(DPM1):c.684A>G (p.Pro228=)
|
rs369538517
|
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_013339.4(ALG6):c.257+15C>A
|
rs761827385
|
0.00007
|
NM_013339.4(ALG6):c.527G>T (p.Trp176Leu)
|
rs773699560
|
0.00007
|
NM_033087.4(ALG2):c.348+20G>C
|
rs768131229
|
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_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.339G>A (p.Pro113=)
|
rs149849259
|
0.00006
|
NM_000303.3(PMM2):c.435C>T (p.Tyr145=)
|
rs550231531
|
0.00006
|
NM_000303.3(PMM2):c.640-12G>A
|
rs375325546
|
0.00006
|
NM_001099922.3(ALG13):c.2369-19T>C
|
rs376719251
|
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_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.708G>A (p.Glu236=)
|
rs530537706
|
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_003859.3(DPM1):c.261+8A>G
|
rs369077586
|
0.00006
|
NM_003859.3(DPM1):c.286T>C (p.Leu96=)
|
rs780244460
|
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.552-13C>T
|
rs373356614
|
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_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.665G>A (p.Gly222Asp)
|
rs532466353
|
0.00006
|
NM_013339.4(ALG6):c.816+10A>T
|
rs529032571
|
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.210C>G (p.Val70=)
|
rs750368652
|
0.00006
|
NM_014908.4(DOLK):c.52G>A (p.Gly18Arg)
|
rs777998210
|
0.00006
|
NM_019109.5(ALG1):c.186G>T (p.Ser62=)
|
rs767351398
|
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.962-6G>T
|
rs769389896
|
0.00006
|
NM_019109.5(ALG1):c.993C>T (p.Arg331=)
|
rs561385337
|
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.822C>T (p.Cys274=)
|
rs757984807
|
0.00006
|
NM_024592.5(SRD5A3):c.123G>A (p.Pro41=)
|
rs760463357
|
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.255C>G (p.Gly85=)
|
rs562977386
|
0.00006
|
NM_033087.4(ALG2):c.60C>T (p.Leu20=)
|
rs200338773
|
0.00006
|
NM_033087.4(ALG2):c.981T>C (p.Phe327=)
|
rs34382969
|
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.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_000303.3(PMM2):c.738C>G (p.Ser246=)
|
rs373888957
|
0.00005
|
NM_001099922.3(ALG13):c.1087+18A>G
|
rs374773161
|
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.2805T>A (p.Pro935=)
|
rs754346057
|
0.00005
|
NM_001099922.3(ALG13):c.3240A>G (p.Pro1080=)
|
rs773452673
|
0.00005
|
NM_001099922.3(ALG13):c.880C>G (p.Pro294Ala)
|
rs753556936
|
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_005216.5(DDOST):c.207C>T (p.Leu69=)
|
rs753702642
|
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.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.1597C>T (p.Leu533=)
|
rs199672668
|
0.00005
|
NM_014908.4(DOLK):c.33G>A (p.Gly11=)
|
rs375483505
|
0.00005
|
NM_014908.4(DOLK):c.435C>T (p.Gly145=)
|
rs781307203
|
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.758C>A (p.Pro253Gln)
|
rs770327947
|
0.00005
|
NM_019109.5(ALG1):c.774G>C (p.Ser258=)
|
rs757068692
|
0.00005
|
NM_024105.4(ALG12):c.402G>A (p.Thr134=)
|
rs370059291
|
0.00005
|
NM_024105.4(ALG12):c.534C>T (p.Phe178=)
|
rs139916198
|
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_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_178862.3(STT3B):c.1398A>G (p.Pro466=)
|
rs143950703
|
0.00005
|
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.384C>T (p.Asn128=)
|
rs147068457
|
0.00004
|
NM_000303.3(PMM2):c.639+10G>A
|
rs200593954
|
0.00004
|
NM_001004127.3(ALG11):c.1269G>A (p.Lys423=)
|
rs369694921
|
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.246T>G (p.Gly82=)
|
rs1934561313
|
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.3132G>A (p.Ala1044=)
|
rs376626719
|
0.00004
|
NM_001099922.3(ALG13):c.511A>G (p.Lys171Glu)
|
rs750037026
|
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_002435.3(MPI):c.1053+15A>G
|
rs564765063
|
0.00004
|
NM_002633.3(PGM1):c.1023G>A (p.Leu341=)
|
rs750218135
|
0.00004
|
NM_002633.3(PGM1):c.57G>A (p.Thr19=)
|
rs764100819
|
0.00004
|
NM_002633.3(PGM1):c.99C>T (p.Ala33=)
|
rs373394538
|
0.00004
|
NM_003859.3(DPM1):c.161+18C>T
|
rs112688266
|
0.00004
|
NM_003859.3(DPM1):c.570C>T (p.Tyr190=)
|
rs754109868
|
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_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.468C>T (p.Ile156=)
|
rs376070047
|
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.2439G>A (p.Ala813=)
|
rs200933894
|
0.00004
|
NM_012463.4(ATP6V0A2):c.312C>T (p.Leu104=)
|
rs563333869
|
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.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.988-20C>T
|
rs377453006
|
0.00004
|
NM_013339.4(ALG6):c.999G>A (p.Ala333=)
|
rs375487839
|
0.00004
|
NM_014908.4(DOLK):c.114A>G (p.Val38=)
|
rs142000757
|
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.177G>A (p.Lys59=)
|
rs747110969
|
0.00004
|
NM_014908.4(DOLK):c.807T>C (p.Gly269=)
|
rs769294980
|
0.00004
|
NM_019109.5(ALG1):c.1077G>A (p.Ser359=)
|
rs564052127
|
0.00004
|
NM_019109.5(ALG1):c.1353G>A (p.Glu451=)
|
rs772562254
|
0.00004
|
NM_019109.5(ALG1):c.221A>T (p.His74Leu)
|
rs201337379
|
0.00004
|
NM_019109.5(ALG1):c.309C>T (p.Tyr103=)
|
rs199553558
|
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.741-13T>C
|
rs368398266
|
0.00004
|
NM_024079.5(ALG8):c.546+7A>T
|
rs771817128
|
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_024740.2(ALG9):c.1038G>A (p.Pro346=)
|
rs372262029
|
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_033087.4(ALG2):c.1116A>G (p.Ala372=)
|
rs573570972
|
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.1208+15A>G
|
rs1448297165
|
0.00004
|
NM_052859.4(RFT1):c.1209-16C>T
|
rs567150690
|
0.00004
|
NM_052859.4(RFT1):c.1344C>T (p.Cys448=)
|
rs369135875
|
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.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_178862.3(STT3B):c.314+9C>T
|
rs549989552
|
0.00004
|
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.573C>T (p.Tyr191=)
|
rs201440361
|
0.00003
|
NM_000303.3(PMM2):c.597C>T (p.Asp199=)
|
rs376412367
|
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_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.2004C>T (p.His668=)
|
rs1024835814
|
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.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.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.144+12G>T
|
rs369867765
|
0.00003
|
NM_002435.3(MPI):c.162C>T (p.His54=)
|
rs763885017
|
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_002633.3(PGM1):c.1144+10A>G
|
rs886046482
|
0.00003
|
NM_002633.3(PGM1):c.12C>A (p.Ile4=)
|
rs775862619
|
0.00003
|
NM_002633.3(PGM1):c.264C>T (p.Ile88=)
|
rs200946909
|
0.00003
|
NM_002633.3(PGM1):c.64C>T (p.Leu22=)
|
rs1395771160
|
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.57G>T (p.Val19=)
|
rs1311416348
|
0.00003
|
NM_003859.3(DPM1):c.9C>G (p.Ser3=)
|
rs150509150
|
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_012463.4(ATP6V0A2):c.1014G>A (p.Leu338=)
|
rs917452697
|
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.2556C>T (p.Asp852=)
|
rs762290613
|
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.993C>T (p.Pro331=)
|
rs367873118
|
0.00003
|
NM_013339.4(ALG6):c.1059-9C>T
|
rs375216174
|
0.00003
|
NM_013339.4(ALG6):c.1308C>T (p.Ser436=)
|
rs1271255207
|
0.00003
|
NM_013339.4(ALG6):c.669C>T (p.Leu223=)
|
rs377089305
|
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.1221A>G (p.Thr407=)
|
rs973710719
|
0.00003
|
NM_014908.4(DOLK):c.1527C>T (p.Ser509=)
|
rs746460508
|
0.00003
|
NM_014908.4(DOLK):c.380T>C (p.Val127Ala)
|
rs201629680
|
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_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.539+15A>G
|
rs777450873
|
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.961+19G>A
|
rs768688738
|
0.00003
|
NM_024079.5(ALG8):c.369-15A>G
|
rs374645837
|
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.1461G>A (p.Pro487=)
|
rs541941913
|
0.00003
|
NM_024105.4(ALG12):c.183C>T (p.Pro61=)
|
rs749156618
|
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.837C>T (p.Ile279=)
|
rs200095556
|
0.00003
|
NM_024105.4(ALG12):c.912C>T (p.Leu304=)
|
rs1226459157
|
0.00003
|
NM_024592.5(SRD5A3):c.423A>G (p.Leu141=)
|
rs143299030
|
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.159C>T (p.His53=)
|
rs527683080
|
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.1071C>T (p.Ile357=)
|
rs367909153
|
0.00003
|
NM_052859.4(RFT1):c.117G>A (p.Leu39=)
|
rs368675325
|
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_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.15C>A (p.Gly5=)
|
rs1277297216
|
0.00002
|
NM_000303.3(PMM2):c.524-16C>T
|
rs748427371
|
0.00002
|
NM_000303.3(PMM2):c.711G>A (p.Thr237=)
|
rs753794337
|
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.1596G>A (p.Ala532=)
|
rs891310320
|
0.00002
|
NM_001099922.3(ALG13):c.1822G>C (p.Asp608His)
|
rs374870130
|
0.00002
|
NM_001099922.3(ALG13):c.1977-12C>T
|
rs374618611
|
0.00002
|
NM_001099922.3(ALG13):c.2112C>T (p.Arg704=)
|
rs775927215
|
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.2369G>A (p.Gly790Glu)
|
rs745411126
|
0.00002
|
NM_001099922.3(ALG13):c.2754A>G (p.Leu918=)
|
rs1057523456
|
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.3404A>G (p.Gln1135Arg)
|
rs771207661
|
0.00002
|
NM_001099922.3(ALG13):c.441A>G (p.Gln147=)
|
rs1391605283
|
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.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.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_001382.4(DPAGT1):c.270C>T (p.Phe90=)
|
rs780625734
|
0.00002
|
NM_001382.4(DPAGT1):c.497-5C>T
|
rs556782038
|
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.345+20G>A
|
rs772479528
|
0.00002
|
NM_002435.3(MPI):c.345+26G>A
|
rs144839533
|
0.00002
|
NM_002435.3(MPI):c.639C>T (p.Leu213=)
|
rs763155512
|
0.00002
|
NM_002435.3(MPI):c.90G>A (p.Leu30=)
|
rs760006403
|
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_003859.3(DPM1):c.296-10T>C
|
rs765027931
|
0.00002
|
NM_003859.3(DPM1):c.494+8C>T
|
rs367586095
|
0.00002
|
NM_003859.3(DPM1):c.726A>G (p.Gly242=)
|
rs772092645
|
0.00002
|
NM_004870.4(MPDU1):c.121C>G (p.Leu41Val)
|
rs199498675
|
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.1305G>A (p.Lys435=)
|
rs370226725
|
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.2043C>T (p.Phe681=)
|
rs202084330
|
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.2320C>T (p.Leu774=)
|
rs1337898685
|
0.00002
|
NM_012463.4(ATP6V0A2):c.2376G>A (p.Pro792=)
|
rs571286312
|
0.00002
|
NM_012463.4(ATP6V0A2):c.521+17G>A
|
rs192339944
|
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.1326+20A>G
|
rs1382330745
|
0.00002
|
NM_013339.4(ALG6):c.257+11C>G
|
rs774093513
|
0.00002
|
NM_013339.4(ALG6):c.495-16C>A
|
rs371088118
|
0.00002
|
NM_013339.4(ALG6):c.54A>G (p.Arg18=)
|
rs373800951
|
0.00002
|
NM_013339.4(ALG6):c.82+19T>C
|
rs376116153
|
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_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.885C>T (p.Asp295=)
|
rs762558659
|
0.00002
|
NM_019109.4(ALG1):c.196C>T (p.Leu66=)
|
rs753405851
|
0.00002
|
NM_019109.5(ALG1):c.135C>T (p.Arg45=)
|
rs779092735
|
0.00002
|
NM_019109.5(ALG1):c.208+14_208+17dup
|
rs746780708
|
0.00002
|
NM_019109.5(ALG1):c.579G>A (p.Leu193=)
|
rs750145784
|
0.00002
|
NM_019109.5(ALG1):c.945C>T (p.Leu315=)
|
rs766773704
|
0.00002
|
NM_024079.5(ALG8):c.1276+9C>T
|
rs747836496
|
0.00002
|
NM_024079.5(ALG8):c.95+16G>A
|
rs376357429
|
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.1239-16A>G
|
rs915149632
|
0.00002
|
NM_024105.4(ALG12):c.1242C>T (p.Tyr414=)
|
rs121907935
|
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.207C>T (p.Leu69=)
|
rs765297992
|
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.57C>T (p.Ala19=)
|
rs763942380
|
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_033087.4(ALG2):c.1230T>C (p.Tyr410=)
|
rs372356780
|
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.6G>A (p.Ala2=)
|
rs766287162
|
0.00002
|
NM_033087.4(ALG2):c.93G>C (p.Arg31=)
|
rs1012959999
|
0.00002
|
NM_052859.4(RFT1):c.1606C>T (p.Arg536Cys)
|
rs376867132
|
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.958-17C>T
|
rs375365942
|
0.00002
|
NM_138459.5(NUS1):c.153G>T (p.Pro51=)
|
rs868271796
|
0.00002
|
NM_138459.5(NUS1):c.324G>A (p.Val108=)
|
rs769619847
|
0.00002
|
NM_000303.3(PMM2):c.111G>A (p.Gln37=)
|
rs762773046
|
0.00001
|
NM_000303.3(PMM2):c.126A>G (p.Gly42=)
|
rs766984518
|
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.159G>A (p.Gln53=)
|
rs1481859853
|
0.00001
|
NM_000303.3(PMM2):c.179-4G>T
|
rs776262869
|
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.27C>T (p.Cys9=)
|
rs1057516943
|
0.00001
|
NM_000303.3(PMM2):c.306C>T (p.Tyr102=)
|
rs184769421
|
0.00001
|
NM_000303.3(PMM2):c.312G>A (p.Leu104=)
|
rs773943361
|
0.00001
|
NM_000303.3(PMM2):c.390C>T (p.Ser130=)
|
rs763944822
|
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.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.549T>C (p.Phe183=)
|
rs1426754260
|
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.648T>C (p.Asn216=)
|
rs139236770
|
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_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.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.1308A>G (p.Lys436=)
|
rs1423402192
|
0.00001
|
NM_001099922.3(ALG13):c.1435+12T>C
|
rs1051547008
|
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.1730-7C>T
|
rs750726885
|
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.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.2055C>T (p.Cys685=)
|
rs1942191104
|
0.00001
|
NM_001099922.3(ALG13):c.2082T>C (p.Tyr694=)
|
rs778640194
|
0.00001
|
NM_001099922.3(ALG13):c.2320G>C (p.Gly774Arg)
|
rs1208800822
|
0.00001
|
NM_001099922.3(ALG13):c.2368+10T>G
|
rs1556509952
|
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.2523C>T (p.Pro841=)
|
rs1229717685
|
0.00001
|
NM_001099922.3(ALG13):c.2529+11T>C
|
rs773084617
|
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.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.2884C>T (p.Pro962Ser)
|
rs1172385892
|
0.00001
|
NM_001099922.3(ALG13):c.2913C>T (p.Ser971=)
|
rs1944100964
|
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.3159G>A (p.Pro1053=)
|
rs1556539037
|
0.00001
|
NM_001099922.3(ALG13):c.3225G>A (p.Gly1075=)
|
rs771997156
|
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.384-8T>C
|
rs1276902484
|
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.456G>A (p.Leu152=)
|
rs762934062
|
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_001382.4(DPAGT1):c.1006-8C>G
|
rs1357255095
|
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.1203C>T (p.Leu401=)
|
rs746759603
|
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.162-20C>T
|
rs749879111
|
0.00001
|
NM_001382.4(DPAGT1):c.216C>T (p.Cys72=)
|
rs1438468092
|
0.00001
|
NM_001382.4(DPAGT1):c.34C>T (p.Leu12=)
|
rs200991527
|
0.00001
|
NM_001382.4(DPAGT1):c.471G>A (p.Pro157=)
|
rs376528767
|
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.714G>A (p.Leu238=)
|
rs1371529040
|
0.00001
|
NM_001382.4(DPAGT1):c.828A>G (p.Leu276=)
|
rs780516960
|
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.1002C>T (p.Tyr334=)
|
rs1244689117
|
0.00001
|
NM_002435.3(MPI):c.1038C>T (p.Thr346=)
|
rs2064832183
|
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.145-11T>C
|
rs768029221
|
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.18A>G (p.Val6=)
|
rs754249618
|
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.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.603G>C (p.Leu201=)
|
rs369609955
|
0.00001
|
NM_002435.3(MPI):c.651G>A (p.Val217=)
|
rs762051658
|
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.747C>T (p.Ile249=)
|
rs778875616
|
0.00001
|
NM_002435.3(MPI):c.768C>T (p.Phe256=)
|
rs1402063128
|
0.00001
|
NM_002435.3(MPI):c.855G>A (p.Glu285=)
|
rs769504650
|
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_002633.3(PGM1):c.1144+16G>A
|
rs755514698
|
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.159G>A (p.Gln53=)
|
rs370087543
|
0.00001
|
NM_002633.3(PGM1):c.1614C>T (p.Pro538=)
|
rs775453982
|
0.00001
|
NM_002633.3(PGM1):c.327T>C (p.Ile109=)
|
rs770271653
|
0.00001
|
NM_003859.3(DPM1):c.162-17A>G
|
rs376823531
|
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.373-11T>C
|
rs750138754
|
0.00001
|
NM_003859.3(DPM1):c.563+15T>C
|
rs1285003493
|
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_003863.4(DPM2):c.114T>C (p.His38=)
|
rs1482824230
|
0.00001
|
NM_003863.4(DPM2):c.144C>T (p.Ala48=)
|
rs779110103
|
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_004870.4(MPDU1):c.103+19C>T
|
rs1320410758
|
0.00001
|
NM_004870.4(MPDU1):c.648C>T (p.Thr216=)
|
rs760109502
|
0.00001
|
NM_005216.5(DDOST):c.1098C>T (p.Asp366=)
|
rs777455786
|
0.00001
|
NM_005216.5(DDOST):c.1281C>T (p.Ile427=)
|
rs923235061
|
0.00001
|
NM_005216.5(DDOST):c.168G>A (p.Glu56=)
|
rs747449468
|
0.00001
|
NM_005216.5(DDOST):c.646-14C>T
|
rs543407020
|
0.00001
|
NM_005216.5(DDOST):c.780G>A (p.Ala260=)
|
rs961389384
|
0.00001
|
NM_005787.6(ALG3):c.1024C>A (p.Leu342Ile)
|
rs568371168
|
0.00001
|
NM_005787.6(ALG3):c.240C>T (p.Gly80=)
|
rs756013928
|
0.00001
|
NM_005787.6(ALG3):c.294T>A (p.Leu98=)
|
rs200538695
|
0.00001
|
NM_005787.6(ALG3):c.605+9C>T
|
rs1177025121
|
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_012463.4(ATP6V0A2):c.1038+19C>T
|
rs748475567
|
0.00001
|
NM_012463.4(ATP6V0A2):c.1158T>C (p.Tyr386=)
|
rs751710968
|
0.00001
|
NM_012463.4(ATP6V0A2):c.1323A>G (p.Gln441=)
|
rs985944979
|
0.00001
|
NM_012463.4(ATP6V0A2):c.1452C>T (p.Asn484=)
|
rs567406924
|
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.18G>A (p.Arg6=)
|
rs1274398806
|
0.00001
|
NM_012463.4(ATP6V0A2):c.2469A>G (p.Val823=)
|
rs775830030
|
0.00001
|
NM_012463.4(ATP6V0A2):c.33C>T (p.Cys11=)
|
rs1485624455
|
0.00001
|
NM_012463.4(ATP6V0A2):c.795G>A (p.Gly265=)
|
rs754399086
|
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_013339.4(ALG6):c.1005A>G (p.Ser335=)
|
rs146094200
|
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.1173T>G (p.Val391=)
|
rs759859422
|
0.00001
|
NM_013339.4(ALG6):c.1275G>A (p.Val425=)
|
rs1455501558
|
0.00001
|
NM_013339.4(ALG6):c.1320A>G (p.Gln440=)
|
rs137918665
|
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.1401G>A (p.Pro467=)
|
rs149524560
|
0.00001
|
NM_013339.4(ALG6):c.1422G>A (p.Val474=)
|
rs1644682242
|
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.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.258-15T>C
|
rs1427230309
|
0.00001
|
NM_013339.4(ALG6):c.258-4G>C
|
rs376611585
|
0.00001
|
NM_013339.4(ALG6):c.294T>C (p.His98=)
|
rs1644480931
|
0.00001
|
NM_013339.4(ALG6):c.321A>G (p.Ala107=)
|
rs766050737
|
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.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.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.630T>C (p.Phe210=)
|
rs1231951186
|
0.00001
|
NM_013339.4(ALG6):c.648C>G (p.Gly216=)
|
rs1270440540
|
0.00001
|
NM_013339.4(ALG6):c.680+14A>T
|
rs531280238
|
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.828C>G (p.Ala276=)
|
rs1325407009
|
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.925C>T (p.Leu309=)
|
rs1311428677
|
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.1143C>T (p.Ile381=)
|
rs750733060
|
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.1434A>G (p.Thr478=)
|
rs536315251
|
0.00001
|
NM_014908.4(DOLK):c.1467G>T (p.Leu489=)
|
rs955285603
|
0.00001
|
NM_014908.4(DOLK):c.184C>A (p.Arg62=)
|
rs533764998
|
0.00001
|
NM_014908.4(DOLK):c.24G>A (p.Pro8=)
|
rs746403097
|
0.00001
|
NM_014908.4(DOLK):c.288G>A (p.Lys96=)
|
rs771259120
|
0.00001
|
NM_014908.4(DOLK):c.453C>T (p.Ile151=)
|
rs1249767230
|
0.00001
|
NM_014908.4(DOLK):c.48G>C (p.Leu16=)
|
rs1841690217
|
0.00001
|
NM_014908.4(DOLK):c.501C>T (p.Val167=)
|
rs372024402
|
0.00001
|
NM_014908.4(DOLK):c.679C>T (p.Leu227=)
|
rs751806411
|
0.00001
|
NM_014908.4(DOLK):c.843G>A (p.Arg281=)
|
rs1430371382
|
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.909T>C (p.Tyr303=)
|
rs1244007975
|
0.00001
|
NM_014908.4(DOLK):c.90G>A (p.Val30=)
|
rs766960135
|
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.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.1072+14A>G
|
rs1320606156
|
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.1104G>A (p.Thr368=)
|
rs1315375927
|
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.1374C>T (p.Leu458=)
|
rs776869363
|
0.00001
|
NM_019109.5(ALG1):c.138C>T (p.Ser46=)
|
rs148665912
|
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.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.342G>A (p.Leu114=)
|
rs1596252196
|
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.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.630-10T>A
|
rs774092984
|
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.75C>G (p.Arg25=)
|
rs369610043
|
0.00001
|
NM_019109.5(ALG1):c.765G>A (p.Thr255=)
|
rs763065965
|
0.00001
|
NM_019109.5(ALG1):c.863-14T>C
|
rs780024263
|
0.00001
|
NM_019109.5(ALG1):c.886C>T (p.Leu296=)
|
rs760271727
|
0.00001
|
NM_019109.5(ALG1):c.902-12T>A
|
rs781282806
|
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_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.1578A>G (p.Gln526=)
|
rs479612
|
0.00001
|
NM_024079.5(ALG8):c.36T>C (p.Asn12=)
|
rs1179361051
|
0.00001
|
NM_024079.5(ALG8):c.546+12T>G
|
rs1169043575
|
0.00001
|
NM_024105.4(ALG12):c.117G>A (p.Leu39=)
|
rs371814322
|
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.1320C>G (p.Leu440=)
|
rs2060528558
|
0.00001
|
NM_024105.4(ALG12):c.1359C>T (p.Ser453=)
|
rs762256657
|
0.00001
|
NM_024105.4(ALG12):c.1390C>T (p.Leu464=)
|
rs546031490
|
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.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.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.469+18G>A
|
rs767540166
|
0.00001
|
NM_024105.4(ALG12):c.537C>T (p.Ala179=)
|
rs1015991179
|
0.00001
|
NM_024105.4(ALG12):c.576C>T (p.Gly192=)
|
rs763437728
|
0.00001
|
NM_024105.4(ALG12):c.690T>C (p.Tyr230=)
|
rs750524007
|
0.00001
|
NM_024105.4(ALG12):c.873G>A (p.Pro291=)
|
rs200080075
|
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.951C>T (p.Phe317=)
|
rs1480401201
|
0.00001
|
NM_024592.5(SRD5A3):c.221+10C>T
|
rs777676728
|
0.00001
|
NM_024592.5(SRD5A3):c.480C>T (p.Val160=)
|
rs797046008
|
0.00001
|
NM_024592.5(SRD5A3):c.837A>G (p.Leu279=)
|
rs771882471
|
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.1251G>A (p.Ser417=)
|
rs782372397
|
0.00001
|
NM_024740.2(ALG9):c.1392T>A (p.Thr464=)
|
rs1461283997
|
0.00001
|
NM_033087.4(ALG2):c.1020A>G (p.Pro340=)
|
rs762693196
|
0.00001
|
NM_033087.4(ALG2):c.1098G>A (p.Pro366=)
|
rs562373747
|
0.00001
|
NM_033087.4(ALG2):c.117G>A (p.Ala39=)
|
rs1353112014
|
0.00001
|
NM_033087.4(ALG2):c.12G>A (p.Glu4=)
|
rs1036766977
|
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.303G>A (p.Val101=)
|
rs371910648
|
0.00001
|
NM_033087.4(ALG2):c.304C>T (p.Leu102=)
|
rs749236548
|
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.39C>G (p.Pro13=)
|
rs746087117
|
0.00001
|
NM_033087.4(ALG2):c.402A>G (p.Leu134=)
|
rs772364404
|
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.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.70C>T (p.Leu24=)
|
rs143683491
|
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_052859.4(RFT1):c.*240T>C
|
rs534506262
|
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.1203C>T (p.Val401=)
|
rs555227282
|
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.132T>C (p.Val44=)
|
rs1218035102
|
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.1407A>G (p.Pro469=)
|
rs750985409
|
0.00001
|
NM_052859.4(RFT1):c.149+13G>A
|
rs866873760
|
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.492C>T (p.Ser164=)
|
rs767438719
|
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.555C>T (p.Ala185=)
|
rs1183969513
|
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.675A>G (p.Leu225=)
|
rs1344235659
|
0.00001
|
NM_052859.4(RFT1):c.697-13T>G
|
rs928587361
|
0.00001
|
NM_052859.4(RFT1):c.777C>T (p.Gly259=)
|
rs752385816
|
0.00001
|
NM_052859.4(RFT1):c.969T>C (p.Ala323=)
|
rs893435134
|
0.00001
|
NM_138459.5(NUS1):c.24G>A (p.Val8=)
|
rs745434007
|
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.330G>A (p.Gln110=)
|
rs1414061827
|
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.541+19T>C
|
rs756091140
|
0.00001
|
NM_138459.5(NUS1):c.579G>A (p.Pro193=)
|
rs753713015
|
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.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_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.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.870C>G (p.Val290=)
|
rs548334707
|
0.00001
|
NM_201400.4(EEF2KMT):c.*886C>G
|
rs758181814
|
0.00001
|
NM_000303.3(PMM2):c.*1224C>A
|
rs74008087
|
|
NM_000303.3(PMM2):c.105G>A (p.Leu35=)
|
|
|
NM_000303.3(PMM2):c.123C>T (p.Ile41=)
|
rs751463681
|
|
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.135C>A (p.Gly45=)
|
rs748980961
|
|
NM_000303.3(PMM2):c.156G>A (p.Val52=)
|
|
|
NM_000303.3(PMM2):c.156G>T (p.Val52=)
|
rs2141017027
|
|
NM_000303.3(PMM2):c.15C>G (p.Gly5=)
|
|
|
NM_000303.3(PMM2):c.15C>T (p.Gly5=)
|
|
|
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.178+11G>C
|
|
|
NM_000303.3(PMM2):c.178+20T>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.179-20T>G
|
|
|
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.18A>G (p.Pro6=)
|
|
|
NM_000303.3(PMM2):c.195T>C (p.Asp65=)
|
|
|
NM_000303.3(PMM2):c.207A>G (p.Pro69=)
|
rs1053902842
|
|
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.225A>G (p.Ala75=)
|
|
|
NM_000303.3(PMM2):c.234T>C (p.Asp78=)
|
rs1186149338
|
|
NM_000303.3(PMM2):c.243C>T (p.Leu81=)
|
rs1169352353
|
|
NM_000303.3(PMM2):c.244T>C (p.Leu82=)
|
rs1399590258
|
|
NM_000303.3(PMM2):c.255+17C>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.256-5T>C
|
rs1430962288
|
|
NM_000303.3(PMM2):c.256-6A>C
|
|
|
NM_000303.3(PMM2):c.256-7C>T
|
rs561075568
|
|
NM_000303.3(PMM2):c.264A>G (p.Gln88=)
|
rs376597290
|
|
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.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.294T>C (p.Asp98=)
|
|
|
NM_000303.3(PMM2):c.295T>C (p.Leu99=)
|
|
|
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.318C>T (p.Tyr106=)
|
rs930344709
|
|
NM_000303.3(PMM2):c.324G>C (p.Ala108=)
|
|
|
NM_000303.3(PMM2):c.336C>G (p.Leu112=)
|
|
|
NM_000303.3(PMM2):c.339G>C (p.Pro113=)
|
|
|
NM_000303.3(PMM2):c.339G>T (p.Pro113=)
|
rs149849259
|
|
NM_000303.3(PMM2):c.345G>A (p.Lys115=)
|
rs2141020046
|
|
NM_000303.3(PMM2):c.347+15A>C
|
rs751222355
|
|
NM_000303.3(PMM2):c.347+17C>T
|
|
|
NM_000303.3(PMM2):c.347+20A>G
|
|
|
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.348-3del
|
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.354T>C (p.Thr118=)
|
rs2141022957
|
|
NM_000303.3(PMM2):c.357C>T (p.Phe119=)
|
rs80338701
|
|
NM_000303.3(PMM2):c.375G>A (p.Gly125=)
|
|
|
NM_000303.3(PMM2):c.375G>T (p.Gly125=)
|
|
|
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.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>T (p.Ser135=)
|
|
|
NM_000303.3(PMM2):c.441C>G (p.Leu147=)
|
rs146990448
|
|
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+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.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.448-23_448-18del
|
rs747968957
|
|
NM_000303.3(PMM2):c.45G>C (p.Gly15=)
|
rs2141014144
|
|
NM_000303.3(PMM2):c.477A>G (p.Ala159=)
|
|
|
NM_000303.3(PMM2):c.483A>G (p.Leu161=)
|
|
|
NM_000303.3(PMM2):c.483A>T (p.Leu161=)
|
rs1433032795
|
|
NM_000303.3(PMM2):c.486G>T (p.Arg162=)
|
|
|
NM_000303.3(PMM2):c.48C>A (p.Thr16=)
|
|
|
NM_000303.3(PMM2):c.507C>T (p.Gly169=)
|
rs2141023382
|
|
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.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.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.524-4G>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.528C>T (p.Gly176=)
|
|
|
NM_000303.3(PMM2):c.531G>A (p.Gln177=)
|
|
|
NM_000303.3(PMM2):c.534C>T (p.Ile178=)
|
|
|
NM_000303.3(PMM2):c.537C>T (p.Ser179=)
|
|
|
NM_000303.3(PMM2):c.54C>T (p.Thr18=)
|
|
|
NM_000303.3(PMM2):c.552T>C (p.Pro184=)
|
rs560182098
|
|
NM_000303.3(PMM2):c.558A>G (p.Gly186=)
|
|
|
NM_000303.3(PMM2):c.564C>T (p.Asp188=)
|
rs2060686207
|
|
NM_000303.3(PMM2):c.567G>A (p.Lys189=)
|
|
|
NM_000303.3(PMM2):c.568A>C (p.Arg190=)
|
|
|
NM_000303.3(PMM2):c.585T>C (p.His195=)
|
rs2141024274
|
|
NM_000303.3(PMM2):c.600T>A (p.Gly200=)
|
|
|
NM_000303.3(PMM2):c.603T>C (p.Tyr201=)
|
|
|
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.618C>T (p.Phe206=)
|
rs1460691341
|
|
NM_000303.3(PMM2):c.61C>A (p.Arg21=)
|
rs758340382
|
|
NM_000303.3(PMM2):c.621T>C (p.Phe207=)
|
|
|
NM_000303.3(PMM2):c.633T>C (p.Thr211=)
|
rs749542076
|
|
NM_000303.3(PMM2):c.639+19G>A
|
|
|
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.640-17A>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.640-4C>G
|
|
|
NM_000303.3(PMM2):c.651C>T (p.Asp217=)
|
rs752614554
|
|
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+20C>G
|
|
|
NM_000303.3(PMM2):c.66+9C>A
|
|
|
NM_000303.3(PMM2):c.66+9C>T
|
|
|
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.669C>T (p.Asp223=)
|
rs104894531
|
|
NM_000303.3(PMM2):c.67-15T>C
|
|
|
NM_000303.3(PMM2):c.67-20T>C
|
|
|
NM_000303.3(PMM2):c.67-8A>G
|
|
|
NM_000303.3(PMM2):c.672C>T (p.Pro224=)
|
rs2141051463
|
|
NM_000303.3(PMM2):c.678C>T (p.Thr226=)
|
rs1480238805
|
|
NM_000303.3(PMM2):c.687C>T (p.Tyr229=)
|
|
|
NM_000303.3(PMM2):c.693G>T (p.Val231=)
|
|
|
NM_000303.3(PMM2):c.696A>G (p.Thr232=)
|
rs2141051514
|
|
NM_000303.3(PMM2):c.705G>A (p.Glu235=)
|
|
|
NM_000303.3(PMM2):c.708C>T (p.Asp236=)
|
rs752495420
|
|
NM_000303.3(PMM2):c.711G>C (p.Thr237=)
|
|
|
NM_000303.3(PMM2):c.714C>G (p.Arg238=)
|
rs141562154
|
|
NM_000303.3(PMM2):c.720C>T (p.Ile240=)
|
|
|
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.75C>G (p.Thr25=)
|
rs1172729028
|
|
NM_000303.3(PMM2):c.78A>G (p.Lys26=)
|
|
|
NM_000303.3(PMM2):c.94C>T (p.Leu32=)
|
|
|
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.1191C>T (p.Asn397=)
|
rs141089354
|
|
NM_001004127.3(ALG11):c.18G>A (p.Arg6=)
|
rs1393492365
|
|
NM_001004127.3(ALG11):c.306C>T (p.Thr102=)
|
|
|
NM_001004127.3(ALG11):c.309C>T (p.Gly103=)
|
|
|
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.534C>T (p.Tyr178=)
|
|
|
NM_001004127.3(ALG11):c.612C>T (p.Thr204=)
|
|
|
NM_001004127.3(ALG11):c.678T>C (p.Asn226=)
|
rs1593903157
|
|
NM_001004127.3(ALG11):c.6G>A (p.Ala2=)
|
|
|
NM_001099922.3(ALG13):c.1002C>T (p.Asp334=)
|
|
|
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.1019A>G (p.Tyr340Cys)
|
|
|
NM_001099922.3(ALG13):c.1027A>T (p.Ser343Cys)
|
|
|
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.1125T>C (p.Val375=)
|
|
|
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.1194T>C (p.Asn398=)
|
|
|
NM_001099922.3(ALG13):c.1221T>C (p.His407=)
|
rs1602694489
|
|
NM_001099922.3(ALG13):c.1245G>A (p.Gln415=)
|
|
|
NM_001099922.3(ALG13):c.1250+14A>G
|
|
|
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.126T>A (p.Gly42=)
|
|
|
NM_001099922.3(ALG13):c.12G>A (p.Val4=)
|
rs781450458
|
|
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.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.1436-5A>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.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.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.156T>C (p.Ser52=)
|
|
|
NM_001099922.3(ALG13):c.1590A>G (p.Glu530=)
|
|
|
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.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.165G>A (p.Ser55=)
|
|
|
NM_001099922.3(ALG13):c.1674C>T (p.Pro558=)
|
rs2148191123
|
|
NM_001099922.3(ALG13):c.1695C>T (p.Tyr565=)
|
|
|
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.1758G>A (p.Gln586=)
|
|
|
NM_001099922.3(ALG13):c.1803T>A (p.Thr601=)
|
|
|
NM_001099922.3(ALG13):c.1805T>C (p.Met602Thr)
|
|
|
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.1833C>T (p.Leu611=)
|
|
|
NM_001099922.3(ALG13):c.1845G>A (p.Leu615=)
|
|
|
NM_001099922.3(ALG13):c.1879A>G (p.Met627Val)
|
|
|
NM_001099922.3(ALG13):c.1938T>C (p.His646=)
|
|
|
NM_001099922.3(ALG13):c.1941A>G (p.Pro647=)
|
rs1942135193
|
|
NM_001099922.3(ALG13):c.1968G>C (p.Gly656=)
|
|
|
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.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.2052G>A (p.Arg684=)
|
|
|
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.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.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.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.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.2248-19G>A
|
|
|
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.2283T>C (p.Thr761=)
|
|
|
NM_001099922.3(ALG13):c.2286A>G (p.Ser762=)
|
|
|
NM_001099922.3(ALG13):c.2304G>A (p.Arg768=)
|
|
|
NM_001099922.3(ALG13):c.2305C>T (p.Arg769Trp)
|
|
|
NM_001099922.3(ALG13):c.2328G>A (p.Gln776=)
|
|
|
NM_001099922.3(ALG13):c.2358G>T (p.Gln786His)
|
|
|
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.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.2402-6C>T
|
|
|
NM_001099922.3(ALG13):c.2415A>G (p.Glu805=)
|
|
|
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.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.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+18G>C
|
|
|
NM_001099922.3(ALG13):c.2458-10T>G
|
|
|
NM_001099922.3(ALG13):c.2458-4A>G
|
|
|
NM_001099922.3(ALG13):c.2500A>G (p.Thr834Ala)
|
rs1943107956
|
|
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.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.2547A>T (p.Ala849=)
|
|
|
NM_001099922.3(ALG13):c.2550A>C (p.Ala850=)
|
|
|
NM_001099922.3(ALG13):c.2598C>T (p.Asn866=)
|
|
|
NM_001099922.3(ALG13):c.261G>A (p.Leu87=)
|
|
|
NM_001099922.3(ALG13):c.2670A>G (p.Val890=)
|
|
|
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.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[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.2757A>C (p.Pro919=)
|
rs2148403524
|
|
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.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.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.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.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[15] (p.Pro944_Pro945dup)
|
rs56717389
|
|
NM_001099922.3(ALG13):c.2797CCT[16] (p.Pro943_Pro945dup)
|
rs56717389
|
|
NM_001099922.3(ALG13):c.2797CCT[8] (p.Pro941_Pro945del)
|
rs56717389
|
|
NM_001099922.3(ALG13):c.2798_2799insACCACCTCC (p.Pro943_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.2802T>C (p.Pro934=)
|
|
|
NM_001099922.3(ALG13):c.2814T>A (p.Pro938=)
|
|
|
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.2835T>C (p.Pro945=)
|
|
|
NM_001099922.3(ALG13):c.2866C>G (p.Gln956Glu)
|
|
|
NM_001099922.3(ALG13):c.2874A>G (p.Pro958=)
|
|
|
NM_001099922.3(ALG13):c.2877A>G (p.Pro959=)
|
|
|
NM_001099922.3(ALG13):c.2883A>G (p.Leu961=)
|
rs370500067
|
|
NM_001099922.3(ALG13):c.2892A>G (p.Pro964=)
|
rs1556523067
|
|
NM_001099922.3(ALG13):c.2910A>G (p.Pro970=)
|
|
|
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.2991C>T (p.Tyr997=)
|
|
|
NM_001099922.3(ALG13):c.3012G>A (p.Val1004=)
|
|
|
NM_001099922.3(ALG13):c.3015A>T (p.Pro1005=)
|
|
|
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.3070C>T (p.Leu1024=)
|
|
|
NM_001099922.3(ALG13):c.3072G>C (p.Leu1024=)
|
|
|
NM_001099922.3(ALG13):c.30C>T (p.Thr10=)
|
|
|
NM_001099922.3(ALG13):c.3117A>G (p.Glu1039=)
|
rs2148514625
|
|
NM_001099922.3(ALG13):c.3120T>C (p.Asp1040=)
|
rs2148514681
|
|
NM_001099922.3(ALG13):c.3123C>T (p.Gly1041=)
|
|
|
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.3156T>C (p.Phe1052=)
|
|
|
NM_001099922.3(ALG13):c.3195C>G (p.Val1065=)
|
|
|
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.3267G>A (p.Val1089=)
|
|
|
NM_001099922.3(ALG13):c.3279C>A (p.Ser1093=)
|
|
|
NM_001099922.3(ALG13):c.3291C>G (p.Pro1097=)
|
rs1329885117
|
|
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.334C>T (p.Leu112=)
|
|
|
NM_001099922.3(ALG13):c.3372T>C (p.Ala1124=)
|
|
|
NM_001099922.3(ALG13):c.33C>G (p.Thr11=)
|
|
|
NM_001099922.3(ALG13):c.348A>G (p.Leu116=)
|
|
|
NM_001099922.3(ALG13):c.354A>G (p.Lys118=)
|
rs1569510723
|
|
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.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.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.432G>A (p.Gly144=)
|
|
|
NM_001099922.3(ALG13):c.432G>C (p.Gly144=)
|
|
|
NM_001099922.3(ALG13):c.453G>A (p.Ala151=)
|
|
|
NM_001099922.3(ALG13):c.498C>T (p.Ser166=)
|
|
|
NM_001099922.3(ALG13):c.516A>G (p.Gln172=)
|
|
|
NM_001099922.3(ALG13):c.534C>T (p.Thr178=)
|
rs2147997341
|
|
NM_001099922.3(ALG13):c.554T>G (p.Leu185Arg)
|
rs1939121243
|
|
NM_001099922.3(ALG13):c.594C>T (p.Thr198=)
|
rs2147998048
|
|
NM_001099922.3(ALG13):c.597C>G (p.Pro199=)
|
|
|
NM_001099922.3(ALG13):c.60G>A (p.Val20=)
|
rs2147594318
|
|
NM_001099922.3(ALG13):c.646T>C (p.Ser216Pro)
|
rs2147998626
|
|
NM_001099922.3(ALG13):c.66G>A (p.Ala22=)
|
|
|
NM_001099922.3(ALG13):c.681C>G (p.Gly227=)
|
rs1939140318
|
|
NM_001099922.3(ALG13):c.684C>T (p.Ser228=)
|
|
|
NM_001099922.3(ALG13):c.69C>G (p.Pro23=)
|
|
|
NM_001099922.3(ALG13):c.729C>T (p.Leu243=)
|
|
|
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.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.756T>C (p.Phe252=)
|
rs915629293
|
|
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.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.834+14A>T
|
|
|
NM_001099922.3(ALG13):c.834+20del
|
|
|
NM_001099922.3(ALG13):c.834+8G>C
|
|
|
NM_001099922.3(ALG13):c.835-15G>C
|
|
|
NM_001099922.3(ALG13):c.837T>C (p.Tyr279=)
|
|
|
NM_001099922.3(ALG13):c.870G>A (p.Arg290=)
|
|
|
NM_001099922.3(ALG13):c.871T>C (p.Leu291=)
|
|
|
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.890G>A (p.Ser297Asn)
|
rs1939938682
|
|
NM_001099922.3(ALG13):c.894T>C (p.Ala298=)
|
|
|
NM_001099922.3(ALG13):c.918T>G (p.Leu306=)
|
|
|
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.933-7C>T
|
rs2148052573
|
|
NM_001099922.3(ALG13):c.984A>G (p.Thr328=)
|
|
|
NM_001099922.3(ALG13):c.999A>G (p.Glu333=)
|
|
|
NM_001382.4(DPAGT1):c.1006-6C>T
|
rs2134898608
|
|
NM_001382.4(DPAGT1):c.1044T>C (p.Ser348=)
|
|
|
NM_001382.4(DPAGT1):c.1050T>G (p.Thr350=)
|
|
|
NM_001382.4(DPAGT1):c.1059T>G (p.Gly353=)
|
rs1946413563
|
|
NM_001382.4(DPAGT1):c.1101A>T (p.Leu367=)
|
rs1442358846
|
|
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+9G>A
|
rs1946410715
|
|
NM_001382.4(DPAGT1):c.1162-14A>G
|
|
|
NM_001382.4(DPAGT1):c.1164C>A (p.Ile388=)
|
|
|
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.222C>T (p.Ile74=)
|
|
|
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.283-5C>T
|
|
|
NM_001382.4(DPAGT1):c.342G>C (p.Ala114=)
|
|
|
NM_001382.4(DPAGT1):c.348T>C (p.Asp116=)
|
rs200885014
|
|
NM_001382.4(DPAGT1):c.441G>A (p.Thr147=)
|
|
|
NM_001382.4(DPAGT1):c.444C>T (p.Thr148=)
|
|
|
NM_001382.4(DPAGT1):c.453G>A (p.Val151=)
|
|
|
NM_001382.4(DPAGT1):c.462C>T (p.Pro154=)
|
|
|
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.637T>C (p.Leu213=)
|
|
|
NM_001382.4(DPAGT1):c.643+17G>C
|
|
|
NM_001382.4(DPAGT1):c.644-12T>G
|
|
|
NM_001382.4(DPAGT1):c.644-18_644-15del
|
rs750678639
|
|
NM_001382.4(DPAGT1):c.645T>C (p.Gly215=)
|
rs2134903738
|
|
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.693T>C (p.Phe231=)
|
|
|
NM_001382.4(DPAGT1):c.729-16C>G
|
|
|
NM_001382.4(DPAGT1):c.729-16C>T
|
|
|
NM_001382.4(DPAGT1):c.735A>G (p.Pro245=)
|
rs1946429703
|
|
NM_001382.4(DPAGT1):c.744G>A (p.Val248=)
|
|
|
NM_001382.4(DPAGT1):c.789C>T (p.Ala263=)
|
|
|
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.879C>T (p.Leu293=)
|
rs1592226120
|
|
NM_001382.4(DPAGT1):c.888C>T (p.Ile296=)
|
|
|
NM_001382.4(DPAGT1):c.917+7G>A
|
|
|
NM_001382.4(DPAGT1):c.918-15A>G
|
|
|
NM_001382.4(DPAGT1):c.930G>A (p.Lys310=)
|
rs2134899492
|
|
NM_001382.4(DPAGT1):c.993C>T (p.Thr331=)
|
rs1946418951
|
|
NM_001382.4(DPAGT1):c.9C>T (p.Ala3=)
|
|
|
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.1020C>T (p.Pro340=)
|
rs2141208695
|
|
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.1054-11T>C
|
|
|
NM_002435.3(MPI):c.1054-17_1054-15del
|
|
|
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.1062C>T (p.Gly354=)
|
|
|
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.1095C>T (p.Asp365=)
|
rs2064840337
|
|
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.1122G>A (p.Gln374=)
|
|
|
NM_002435.3(MPI):c.1137C>T (p.Ala379=)
|
rs2141209695
|
|
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.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.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.1233G>T (p.Pro411=)
|
rs746867428
|
|
NM_002435.3(MPI):c.1236G>A (p.Lys412=)
|
rs2141209962
|
|
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.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+20T>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.145-5T>C
|
|
|
NM_002435.3(MPI):c.145-9T>C
|
rs2141197441
|
|
NM_002435.3(MPI):c.156G>A (p.Gly52=)
|
rs2141197487
|
|
NM_002435.3(MPI):c.159T>C (p.Thr53=)
|
|
|
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+7C>T
|
|
|
NM_002435.3(MPI):c.16+8A>T
|
|
|
NM_002435.3(MPI):c.17-12C>G
|
|
|
NM_002435.3(MPI):c.17-13T>C
|
|
|
NM_002435.3(MPI):c.17-4C>G
|
|
|
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.204G>A (p.Gln68=)
|
|
|
NM_002435.3(MPI):c.207G>A (p.Lys69=)
|
|
|
NM_002435.3(MPI):c.225T>C (p.Ile75=)
|
|
|
NM_002435.3(MPI):c.231G>A (p.Glu77=)
|
|
|
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.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.324C>T (p.Ser108=)
|
rs2141197827
|
|
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.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.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.381G>A (p.Gln127=)
|
|
|
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.417C>T (p.Ala139=)
|
|
|
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.444G>A (p.Leu148=)
|
|
|
NM_002435.3(MPI):c.459A>G (p.Pro153=)
|
|
|
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+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.488-5T>C
|
rs2141200247
|
|
NM_002435.3(MPI):c.492G>A (p.Val164=)
|
rs2141200277
|
|
NM_002435.3(MPI):c.507C>T (p.Phe169=)
|
|
|
NM_002435.3(MPI):c.531A>G (p.Thr177=)
|
|
|
NM_002435.3(MPI):c.534C>T (p.His178=)
|
rs775688839
|
|
NM_002435.3(MPI):c.546C>T (p.Thr182=)
|
rs2064752091
|
|
NM_002435.3(MPI):c.567T>C (p.Ala189=)
|
|
|
NM_002435.3(MPI):c.576C>G (p.Ser192=)
|
|
|
NM_002435.3(MPI):c.576C>T (p.Ser192=)
|
rs794727716
|
|
NM_002435.3(MPI):c.591T>C (p.Cys197=)
|
rs2141200469
|
|
NM_002435.3(MPI):c.594C>T (p.Phe198=)
|
rs1399029075
|
|
NM_002435.3(MPI):c.60G>A (p.Lys20=)
|
rs779832985
|
|
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.630G>A (p.Val210=)
|
|
|
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.657G>A (p.Arg219=)
|
rs1318782866
|
|
NM_002435.3(MPI):c.657G>C (p.Arg219=)
|
rs1318782866
|
|
NM_002435.3(MPI):c.670+10G>A
|
rs2141200747
|
|
NM_002435.3(MPI):c.670+13A>G
|
|
|
NM_002435.3(MPI):c.670+14T>C
|
|
|
NM_002435.3(MPI):c.670+15A>C
|
|
|
NM_002435.3(MPI):c.670+7A>G
|
|
|
NM_002435.3(MPI):c.670+8_670+9del
|
|
|
NM_002435.3(MPI):c.670+8_670+9inv
|
|
|
NM_002435.3(MPI):c.670+9A>C
|
rs7495739
|
|
NM_002435.3(MPI):c.670+9A>T
|
rs7495739
|
|
NM_002435.3(MPI):c.670+9del
|
|
|
NM_002435.3(MPI):c.670+9dup
|
rs1595818806
|
|
NM_002435.3(MPI):c.671-13_671-12del
|
|
|
NM_002435.3(MPI):c.671-15C>G
|
|
|
NM_002435.3(MPI):c.671-15C>T
|
|
|
NM_002435.3(MPI):c.671-7C>T
|
rs2141206472
|
|
NM_002435.3(MPI):c.671-8A>T
|
|
|
NM_002435.3(MPI):c.671-9G>C
|
rs561678676
|
|
NM_002435.3(MPI):c.675T>C (p.Ala225=)
|
|
|
NM_002435.3(MPI):c.678C>T (p.Ala226=)
|
|
|
NM_002435.3(MPI):c.681A>G (p.Gly227=)
|
rs1595822320
|
|
NM_002435.3(MPI):c.693G>A (p.Glu231=)
|
rs2141206565
|
|
NM_002435.3(MPI):c.699C>T (p.Ile233=)
|
|
|
NM_002435.3(MPI):c.6C>A (p.Ala2=)
|
rs149477499
|
|
NM_002435.3(MPI):c.6C>G (p.Ala2=)
|
|
|
NM_002435.3(MPI):c.6C>T (p.Ala2=)
|
rs149477499
|
|
NM_002435.3(MPI):c.744T>C (p.Asp248=)
|
rs2141206666
|
|
NM_002435.3(MPI):c.747C>A (p.Ile249=)
|
rs778875616
|
|
NM_002435.3(MPI):c.765C>T (p.Tyr255=)
|
|
|
NM_002435.3(MPI):c.769C>T (p.Leu257=)
|
rs1595822532
|
|
NM_002435.3(MPI):c.771G>A (p.Leu257=)
|
rs2141206771
|
|
NM_002435.3(MPI):c.774C>T (p.Asn258=)
|
|
|
NM_002435.3(MPI):c.775C>T (p.Leu259=)
|
rs2141206776
|
|
NM_002435.3(MPI):c.777G>A (p.Leu259=)
|
|
|
NM_002435.3(MPI):c.783C>A (p.Thr261=)
|
rs2141206797
|
|
NM_002435.3(MPI):c.783C>T (p.Thr261=)
|
rs2141206797
|
|
NM_002435.3(MPI):c.786G>A (p.Leu262=)
|
rs1301498236
|
|
NM_002435.3(MPI):c.78A>G (p.Glu26=)
|
rs1596440826
|
|
NM_002435.3(MPI):c.792T>C (p.Pro264=)
|
|
|
NM_002435.3(MPI):c.810G>A (p.Leu270=)
|
|
|
NM_002435.3(MPI):c.810G>C (p.Leu270=)
|
rs2141206859
|
|
NM_002435.3(MPI):c.816C>G (p.Ala272=)
|
rs2064817492
|
|
NM_002435.3(MPI):c.834C>T (p.Tyr278=)
|
|
|
NM_002435.3(MPI):c.844+10A>G
|
|
|
NM_002435.3(MPI):c.844+14C>G
|
|
|
NM_002435.3(MPI):c.844+9C>G
|
rs2141206935
|
|
NM_002435.3(MPI):c.845-10G>C
|
rs748693066
|
|
NM_002435.3(MPI):c.845-14G>A
|
|
|
NM_002435.3(MPI):c.845-14_845-12del
|
|
|
NM_002435.3(MPI):c.845-15C>T
|
|
|
NM_002435.3(MPI):c.845-17G>T
|
|
|
NM_002435.3(MPI):c.845-18dup
|
|
|
NM_002435.3(MPI):c.845-20C>T
|
|
|
NM_002435.3(MPI):c.845-4C>A
|
|
|
NM_002435.3(MPI):c.864G>A (p.Ala288=)
|
rs1017060960
|
|
NM_002435.3(MPI):c.882T>G (p.Val294=)
|
rs2141208380
|
|
NM_002435.3(MPI):c.894G>A (p.Leu298=)
|
|
|
NM_002435.3(MPI):c.91T>C (p.Leu31=)
|
rs765537697
|
|
NM_002435.3(MPI):c.936C>T (p.Leu312=)
|
rs1362422803
|
|
NM_002435.3(MPI):c.939C>T (p.Ser313=)
|
|
|
NM_002435.3(MPI):c.945C>T (p.Thr315=)
|
|
|
NM_002435.3(MPI):c.948T>A (p.Pro316=)
|
rs778221310
|
|
NM_002435.3(MPI):c.969C>G (p.Leu323=)
|
|
|
NM_002435.3(MPI):c.984G>C (p.Arg328=)
|
|
|
NM_002435.3(MPI):c.984G>T (p.Arg328=)
|
|
|
NM_002435.3(MPI):c.987T>C (p.Ser329=)
|
|
|
NM_002435.3(MPI):c.993A>G (p.Glu331=)
|
rs2141208617
|
|
NM_002435.3(MPI):c.996C>T (p.Asp332=)
|
rs1042715923
|
|
NM_002633.3(PGM1):c.1028+13A>G
|
|
|
NM_002633.3(PGM1):c.1028+18C>T
|
|
|
NM_002633.3(PGM1):c.1029-19T>C
|
|
|
NM_002633.3(PGM1):c.1029-8C>G
|
rs752232600
|
|
NM_002633.3(PGM1):c.1044A>C (p.Thr348=)
|
|
|
NM_002633.3(PGM1):c.105C>T (p.Tyr35=)
|
|
|
NM_002633.3(PGM1):c.1065C>A (p.Thr355=)
|
rs773677629
|
|
NM_002633.3(PGM1):c.1065C>T (p.Thr355=)
|
rs773677629
|
|
NM_002633.3(PGM1):c.108G>A (p.Ala36=)
|
|
|
NM_002633.3(PGM1):c.1145-10C>T
|
|
|
NM_002633.3(PGM1):c.1145-11C>T
|
|
|
NM_002633.3(PGM1):c.1145-6C>G
|
|
|
NM_002633.3(PGM1):c.1145-9C>G
|
|
|
NM_002633.3(PGM1):c.1191C>A (p.Ala397=)
|
|
|
NM_002633.3(PGM1):c.1206A>C (p.Leu402=)
|
rs2100998429
|
|
NM_002633.3(PGM1):c.1209C>A (p.Ala403=)
|
|
|
NM_002633.3(PGM1):c.1233C>T (p.Asp411=)
|
|
|
NM_002633.3(PGM1):c.1239C>T (p.Leu413=)
|
|
|
NM_002633.3(PGM1):c.123G>A (p.Gln41=)
|
|
|
NM_002633.3(PGM1):c.1254A>G (p.Gln418=)
|
|
|
NM_002633.3(PGM1):c.1280+12C>T
|
|
|
NM_002633.3(PGM1):c.1281-14G>A
|
|
|
NM_002633.3(PGM1):c.1281-15C>T
|
|
|
NM_002633.3(PGM1):c.1281-17T>A
|
|
|
NM_002633.3(PGM1):c.1281-5T>C
|
|
|
NM_002633.3(PGM1):c.1293G>A (p.Glu431=)
|
|
|
NM_002633.3(PGM1):c.1299G>A (p.Val433=)
|
|
|
NM_002633.3(PGM1):c.129C>T (p.Ile43=)
|
|
|
NM_002633.3(PGM1):c.1371G>A (p.Lys457=)
|
|
|
NM_002633.3(PGM1):c.1401T>A (p.Thr467=)
|
|
|
NM_002633.3(PGM1):c.1413C>T (p.Ala471=)
|
|
|
NM_002633.3(PGM1):c.1422T>C (p.Phe474=)
|
|
|
NM_002633.3(PGM1):c.1431C>T (p.Ser477=)
|
|
|
NM_002633.3(PGM1):c.1455A>G (p.Ser485=)
|
|
|
NM_002633.3(PGM1):c.1464+14G>A
|
rs2269238
|
|
NM_002633.3(PGM1):c.1464+15G>A
|
rs748510501
|
|
NM_002633.3(PGM1):c.1464+9A>T
|
|
|
NM_002633.3(PGM1):c.1465-16_1465-15del
|
|
|
NM_002633.3(PGM1):c.1496G>A (p.Arg499Gln)
|
rs770023140
|
|
NM_002633.3(PGM1):c.1524G>T (p.Gly508=)
|
|
|
NM_002633.3(PGM1):c.1530C>T (p.Ala510=)
|
|
|
NM_002633.3(PGM1):c.156G>C (p.Arg52=)
|
|
|
NM_002633.3(PGM1):c.1600-13A>G
|
|
|
NM_002633.3(PGM1):c.1600-15C>G
|
|
|
NM_002633.3(PGM1):c.1668T>A (p.Thr556=)
|
|
|
NM_002633.3(PGM1):c.1668T>G (p.Thr556=)
|
rs752885355
|
|
NM_002633.3(PGM1):c.168G>C (p.Thr56=)
|
|
|
NM_002633.3(PGM1):c.171G>A (p.Leu57=)
|
|
|
NM_002633.3(PGM1):c.180C>T (p.Gly60=)
|
|
|
NM_002633.3(PGM1):c.243C>T (p.Asn81=)
|
|
|
NM_002633.3(PGM1):c.246+11C>T
|
|
|
NM_002633.3(PGM1):c.246+8A>G
|
|
|
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.261T>C (p.Val87=)
|
|
|
NM_002633.3(PGM1):c.282C>G (p.Leu94=)
|
|
|
NM_002633.3(PGM1):c.300C>G (p.Ser100=)
|
|
|
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.399T>A (p.Ile133=)
|
|
|
NM_002633.3(PGM1):c.409+12G>C
|
|
|
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.42C>T (p.Asp14=)
|
|
|
NM_002633.3(PGM1):c.48G>A (p.Lys16=)
|
|
|
NM_002633.3(PGM1):c.51G>C (p.Pro17=)
|
|
|
NM_002633.3(PGM1):c.540G>A (p.Lys180=)
|
|
|
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.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.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.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.801C>A (p.Thr267=)
|
|
|
NM_002633.3(PGM1):c.816G>C (p.Leu272=)
|
|
|
NM_002633.3(PGM1):c.873+10A>G
|
|
|
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.903G>A (p.Gly301=)
|
|
|
NM_002633.3(PGM1):c.90G>A (p.Gln30=)
|
|
|
NM_002633.3(PGM1):c.981G>A (p.Gly327=)
|
|
|
NM_003859.3(DPM1):c.10T>C (p.Leu4=)
|
|
|
NM_003859.3(DPM1):c.117C>T (p.Asn39=)
|
rs1488509110
|
|
NM_003859.3(DPM1):c.123G>A (p.Pro41=)
|
|
|
NM_003859.3(DPM1):c.123G>T (p.Pro41=)
|
rs762396281
|
|
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.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.232T>C (p.Leu78=)
|
rs1986765330
|
|
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.295+8G>C
|
rs758553918
|
|
NM_003859.3(DPM1):c.296-14A>C
|
|
|
NM_003859.3(DPM1):c.296-9C>A
|
rs1986258505
|
|
NM_003859.3(DPM1):c.296-9C>G
|
rs1986258505
|
|
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.345T>C (p.Ile115=)
|
|
|
NM_003859.3(DPM1):c.372+12G>A
|
|
|
NM_003859.3(DPM1):c.384T>C (p.Ile128=)
|
rs1555822595
|
|
NM_003859.3(DPM1):c.398+20T>C
|
|
|
NM_003859.3(DPM1):c.399-13A>T
|
|
|
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.459T>C (p.Gly153=)
|
rs1985885337
|
|
NM_003859.3(DPM1):c.459T>G (p.Gly153=)
|
|
|
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.495-15T>G
|
|
|
NM_003859.3(DPM1):c.495-18G>C
|
|
|
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.618C>T (p.Gly206=)
|
|
|
NM_003859.3(DPM1):c.621C>T (p.Tyr207=)
|
rs1373039485
|
|
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.678+18A>C
|
rs2123061147
|
|
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.679-9_679-8dup
|
|
|
NM_003859.3(DPM1):c.67C>A (p.Arg23=)
|
|
|
NM_003859.3(DPM1):c.684A>C (p.Pro228=)
|
|
|
NM_003859.3(DPM1):c.6C>T (p.Ala2=)
|
|
|
NM_003859.3(DPM1):c.702T>C (p.Arg234=)
|
rs2123056796
|
|
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.9C>T (p.Ser3=)
|
rs150509150
|
|
NM_003863.4(DPM2):c.120C>T (p.Ile40=)
|
rs1588689780
|
|
NM_003863.4(DPM2):c.153C>A (p.Val51=)
|
|
|
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.237G>A (p.Val79=)
|
|
|
NM_003863.4(DPM2):c.27G>C (p.Val9=)
|
|
|
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.39C>T (p.Leu13=)
|
rs757467123
|
|
NM_003863.4(DPM2):c.4-18G>C
|
|
|
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.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.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_004870.4(MPDU1):c.303-9A>G
|
rs763924892
|
|
NM_004870.4(MPDU1):c.468G>A (p.Leu156=)
|
|
|
NM_004870.4(MPDU1):c.582T>C (p.Phe194=)
|
rs763418089
|
|
NM_004870.4(MPDU1):c.591C>G (p.Ser197=)
|
rs2150936245
|
|
NM_004870.4(MPDU1):c.619-17C>G
|
|
|
NM_005216.5(DDOST):c.1063+19C>T
|
|
|
NM_005216.5(DDOST):c.1063+20G>A
|
|
|
NM_005216.5(DDOST):c.1064-5C>T
|
|
|
NM_005216.5(DDOST):c.111C>T (p.Leu37=)
|
rs2154534463
|
|
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.1218C>T (p.Pro406=)
|
|
|
NM_005216.5(DDOST):c.1263G>C (p.Gly421=)
|
|
|
NM_005216.5(DDOST):c.132G>T (p.Ser44=)
|
|
|
NM_005216.5(DDOST):c.154+14C>T
|
|
|
NM_005216.5(DDOST):c.154+7G>C
|
|
|
NM_005216.5(DDOST):c.225C>T (p.Phe75=)
|
rs1408934262
|
|
NM_005216.5(DDOST):c.24G>A (p.Arg8=)
|
|
|
NM_005216.5(DDOST):c.312C>T (p.Asp104=)
|
|
|
NM_005216.5(DDOST):c.457-9T>G
|
|
|
NM_005216.5(DDOST):c.462G>A (p.Thr154=)
|
|
|
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.618C>A (p.Ser206=)
|
|
|
NM_005216.5(DDOST):c.63C>T (p.Gly21=)
|
|
|
NM_005216.5(DDOST):c.645+19T>C
|
|
|
NM_005216.5(DDOST):c.732C>A (p.Leu244=)
|
rs149114970
|
|
NM_005216.5(DDOST):c.753C>T (p.Phe251=)
|
|
|
NM_005216.5(DDOST):c.794+10A>G
|
|
|
NM_005216.5(DDOST):c.794+10A>T
|
|
|
NM_005216.5(DDOST):c.942+13dup
|
|
|
NM_005216.5(DDOST):c.942+15G>C
|
|
|
NM_005787.6(ALG3):c.1009+14T>G
|
|
|
NM_005787.6(ALG3):c.1014C>T (p.Ile338=)
|
|
|
NM_005787.6(ALG3):c.1170G>T (p.Gly390=)
|
rs758528909
|
|
NM_005787.6(ALG3):c.1242C>T (p.Ala414=)
|
|
|
NM_005787.6(ALG3):c.1254G>A (p.Leu418=)
|
|
|
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.296+13A>C
|
rs2108442309
|
|
NM_005787.6(ALG3):c.296+20T>C
|
|
|
NM_005787.6(ALG3):c.297-11T>C
|
|
|
NM_005787.6(ALG3):c.297-19A>G
|
|
|
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.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.579C>T (p.Arg193=)
|
|
|
NM_005787.6(ALG3):c.606-18C>T
|
|
|
NM_005787.6(ALG3):c.633G>A (p.Val211=)
|
rs2108441361
|
|
NM_005787.6(ALG3):c.639C>A (p.Leu213=)
|
|
|
NM_005787.6(ALG3):c.717T>G (p.Ala239=)
|
|
|
NM_005787.6(ALG3):c.888C>T (p.Ala296=)
|
|
|
NM_005787.6(ALG3):c.918C>T (p.Leu306=)
|
|
|
NM_005787.6(ALG3):c.932+10G>A
|
|
|
NM_005787.6(ALG3):c.933-20_933-17del
|
|
|
NM_005787.6(ALG3):c.945T>C (p.Ser315=)
|
|
|
NM_012463.4(ATP6V0A2):c.102G>T (p.Leu34=)
|
|
|
NM_012463.4(ATP6V0A2):c.1038+20_1038+22del
|
|
|
NM_012463.4(ATP6V0A2):c.1039-13G>A
|
rs375793162
|
|
NM_012463.4(ATP6V0A2):c.1039-15T>C
|
|
|
NM_012463.4(ATP6V0A2):c.1065A>G (p.Ser355=)
|
rs1593910063
|
|
NM_012463.4(ATP6V0A2):c.1098C>A (p.Pro366=)
|
|
|
NM_012463.4(ATP6V0A2):c.1128C>G (p.Thr376=)
|
|
|
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+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.118-4T>C
|
|
|
NM_012463.4(ATP6V0A2):c.118-9T>G
|
|
|
NM_012463.4(ATP6V0A2):c.1215G>A (p.Pro405=)
|
rs1171365721
|
|
NM_012463.4(ATP6V0A2):c.1245C>T (p.Phe415=)
|
|
|
NM_012463.4(ATP6V0A2):c.1248A>C (p.Gly416=)
|
|
|
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.1362C>T (p.Leu454=)
|
|
|
NM_012463.4(ATP6V0A2):c.1391C>G (p.Thr464Ser)
|
|
|
NM_012463.4(ATP6V0A2):c.1407C>T (p.Asn469=)
|
|
|
NM_012463.4(ATP6V0A2):c.1410C>T (p.Asp470=)
|
|
|
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.1491G>A (p.Glu497=)
|
|
|
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.1605+10C>T
|
|
|
NM_012463.4(ATP6V0A2):c.1605+16T>G
|
rs532950608
|
|
NM_012463.4(ATP6V0A2):c.1615T>C (p.Leu539=)
|
|
|
NM_012463.4(ATP6V0A2):c.1639C>T (p.Leu547=)
|
|
|
NM_012463.4(ATP6V0A2):c.1665C>G (p.Ser555=)
|
|
|
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.1724+11A>T
|
|
|
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.1830G>T (p.Leu610=)
|
|
|
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.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.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.2034T>C (p.Arg678=)
|
|
|
NM_012463.4(ATP6V0A2):c.2055+18_2055+24dup
|
|
|
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.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.2223G>A (p.Glu741=)
|
|
|
NM_012463.4(ATP6V0A2):c.2230C>T (p.Leu744=)
|
|
|
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.2328C>T (p.Arg776=)
|
|
|
NM_012463.4(ATP6V0A2):c.234C>G (p.Pro78=)
|
|
|
NM_012463.4(ATP6V0A2):c.2370G>C (p.Leu790=)
|
|
|
NM_012463.4(ATP6V0A2):c.2388C>G (p.Leu796=)
|
|
|
NM_012463.4(ATP6V0A2):c.2448C>T (p.His816=)
|
|
|
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.2472A>G (p.Glu824=)
|
|
|
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.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.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.422G>T (p.Arg141Leu)
|
rs143509747
|
|
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.528G>A (p.Val176=)
|
|
|
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.705C>T (p.Gly235=)
|
rs767516975
|
|
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.744C>T (p.His248=)
|
|
|
NM_012463.4(ATP6V0A2):c.768C>A (p.Ala256=)
|
|
|
NM_012463.4(ATP6V0A2):c.78C>G (p.Leu26=)
|
|
|
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.864A>G (p.Leu288=)
|
|
|
NM_012463.4(ATP6V0A2):c.876C>T (p.Ala292=)
|
|
|
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.999G>A (p.Ala333=)
|
|
|
NM_013339.4(ALG6):c.1000C>T (p.Leu334=)
|
|
|
NM_013339.4(ALG6):c.1005A>C (p.Ser335=)
|
rs146094200
|
|
NM_013339.4(ALG6):c.1005A>T (p.Ser335=)
|
|
|
NM_013339.4(ALG6):c.1011T>C (p.Phe337=)
|
rs2100428006
|
|
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.1058+16T>G
|
|
|
NM_013339.4(ALG6):c.1058+16del
|
|
|
NM_013339.4(ALG6):c.1058+19A>C
|
|
|
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.1116G>T (p.Val372=)
|
|
|
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+20A>G
|
|
|
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.1128-9C>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.1137T>A (p.Pro379=)
|
|
|
NM_013339.4(ALG6):c.1144T>C (p.Leu382=)
|
|
|
NM_013339.4(ALG6):c.1161A>G (p.Leu387=)
|
|
|
NM_013339.4(ALG6):c.1176G>A (p.Val392=)
|
rs751280587
|
|
NM_013339.4(ALG6):c.1188A>G (p.Ala396=)
|
|
|
NM_013339.4(ALG6):c.1203T>C (p.Cys401=)
|
|
|
NM_013339.4(ALG6):c.1206A>G (p.Val402=)
|
|
|
NM_013339.4(ALG6):c.1227A>G (p.Glu409=)
|
|
|
NM_013339.4(ALG6):c.123G>A (p.Gln41=)
|
|
|
NM_013339.4(ALG6):c.1242A>G (p.Glu414=)
|
|
|
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.1296T>C (p.Phe432=)
|
rs2100440862
|
|
NM_013339.4(ALG6):c.129C>T (p.His43=)
|
rs2100404957
|
|
NM_013339.4(ALG6):c.1326+10A>G
|
|
|
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.1344C>T (p.Ile448=)
|
|
|
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.1371T>C (p.Thr457=)
|
|
|
NM_013339.4(ALG6):c.1386T>C (p.Pro462=)
|
rs1644682042
|
|
NM_013339.4(ALG6):c.138A>G (p.Glu46=)
|
|
|
NM_013339.4(ALG6):c.1413T>G (p.Ser471=)
|
rs2100448244
|
|
NM_013339.4(ALG6):c.1428T>C (p.Phe476=)
|
|
|
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.1467T>C (p.Phe489=)
|
|
|
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.1506T>C (p.Asn502=)
|
|
|
NM_013339.4(ALG6):c.1524G>A (p.Ter508=)
|
|
|
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+7del
|
|
|
NM_013339.4(ALG6):c.168-5T>C
|
rs2100412747
|
|
NM_013339.4(ALG6):c.168-9C>G
|
rs751572798
|
|
NM_013339.4(ALG6):c.16T>C (p.Leu6=)
|
rs1439550994
|
|
NM_013339.4(ALG6):c.171T>C (p.Tyr57=)
|
|
|
NM_013339.4(ALG6):c.192T>C (p.Asn64=)
|
rs1644468589
|
|
NM_013339.4(ALG6):c.201T>C (p.Tyr67=)
|
rs2100412804
|
|
NM_013339.4(ALG6):c.234T>C (p.Tyr78=)
|
|
|
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.257+14del
|
|
|
NM_013339.4(ALG6):c.257+17T>C
|
|
|
NM_013339.4(ALG6):c.257+19A>T
|
|
|
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.258-4G>T
|
rs376611585
|
|
NM_013339.4(ALG6):c.258-8A>G
|
rs1570063031
|
|
NM_013339.4(ALG6):c.258-9G>T
|
|
|
NM_013339.4(ALG6):c.279C>T (p.Asp93=)
|
rs2100415406
|
|
NM_013339.4(ALG6):c.27A>C (p.Val9=)
|
|
|
NM_013339.4(ALG6):c.288T>C (p.Ala96=)
|
|
|
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.303T>A (p.Arg101=)
|
|
|
NM_013339.4(ALG6):c.318G>A (p.Gln106=)
|
rs1316712862
|
|
NM_013339.4(ALG6):c.327G>A (p.Lys109=)
|
rs1389168920
|
|
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+20T>C
|
|
|
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.420T>A (p.Thr140=)
|
rs150097046
|
|
NM_013339.4(ALG6):c.429+9T>C
|
|
|
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.435T>A (p.Ala145=)
|
|
|
NM_013339.4(ALG6):c.442T>C (p.Leu148=)
|
|
|
NM_013339.4(ALG6):c.448A>G (p.Ile150Val)
|
rs571644669
|
|
NM_013339.4(ALG6):c.450C>A (p.Ile150=)
|
rs1644492796
|
|
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.474T>C (p.Leu158=)
|
rs2100417592
|
|
NM_013339.4(ALG6):c.489T>C (p.His163=)
|
rs2100417628
|
|
NM_013339.4(ALG6):c.495-10A>C
|
|
|
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.504T>C (p.Ser168=)
|
|
|
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.531T>A (p.Gly177=)
|
rs1644513973
|
|
NM_013339.4(ALG6):c.546T>C (p.Ser182=)
|
rs762983061
|
|
NM_013339.4(ALG6):c.546T>G (p.Ser182=)
|
|
|
NM_013339.4(ALG6):c.552C>T (p.Asp184=)
|
|
|
NM_013339.4(ALG6):c.561C>T (p.Leu187=)
|
rs2100420841
|
|
NM_013339.4(ALG6):c.562C>T (p.Leu188=)
|
|
|
NM_013339.4(ALG6):c.564A>G (p.Leu188=)
|
rs755149107
|
|
NM_013339.4(ALG6):c.576A>G (p.Ala192=)
|
rs1421405856
|
|
NM_013339.4(ALG6):c.597T>C (p.Tyr199=)
|
rs2100420873
|
|
NM_013339.4(ALG6):c.600A>G (p.Lys200=)
|
|
|
NM_013339.4(ALG6):c.60A>G (p.Thr20=)
|
|
|
NM_013339.4(ALG6):c.621C>A (p.Ala207=)
|
rs2100420899
|
|
NM_013339.4(ALG6):c.622T>C (p.Leu208=)
|
|
|
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.651G>A (p.Lys217=)
|
|
|
NM_013339.4(ALG6):c.660A>G (p.Lys220=)
|
rs2100420972
|
|
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+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.681-19A>C
|
|
|
NM_013339.4(ALG6):c.681-4_681-3insGTTTTTTTGTTTGTTT
|
|
|
NM_013339.4(ALG6):c.699G>A (p.Lys233=)
|
|
|
NM_013339.4(ALG6):c.720T>G (p.Ala240=)
|
rs2100421596
|
|
NM_013339.4(ALG6):c.723C>G (p.Ser241=)
|
|
|
NM_013339.4(ALG6):c.732C>T (p.Leu244=)
|
rs528739746
|
|
NM_013339.4(ALG6):c.741G>T (p.Leu247=)
|
rs1644518821
|
|
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.774G>A (p.Gln258=)
|
|
|
NM_013339.4(ALG6):c.780A>G (p.Leu260=)
|
|
|
NM_013339.4(ALG6):c.798T>C (p.Val266=)
|
|
|
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+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+7C>T
|
rs2100378518
|
|
NM_013339.4(ALG6):c.82+8A>G
|
|
|
NM_013339.4(ALG6):c.82+9T>G
|
|
|
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.852C>G (p.Val284=)
|
rs912739738
|
|
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.885C>T (p.His295=)
|
rs1271043295
|
|
NM_013339.4(ALG6):c.888C>T (p.Ile296=)
|
rs2100423389
|
|
NM_013339.4(ALG6):c.892T>C (p.Leu298=)
|
|
|
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+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.927G>C (p.Leu309=)
|
rs2100425098
|
|
NM_013339.4(ALG6):c.946T>C (p.Leu316=)
|
rs2100425118
|
|
NM_013339.4(ALG6):c.960C>T (p.Pro320=)
|
|
|
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.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.988-15C>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.988-5T>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.999G>C (p.Ala333=)
|
|
|
NM_013339.4(ALG6):c.999G>T (p.Ala333=)
|
|
|
NM_013339.4(ALG6):c.9A>G (p.Lys3=)
|
rs2100378404
|
|
NM_014908.4(DOLK):c.1059C>T (p.Ile353=)
|
rs1167712176
|
|
NM_014908.4(DOLK):c.1065C>T (p.Asp355=)
|
|
|
NM_014908.4(DOLK):c.1071A>G (p.Pro357=)
|
|
|
NM_014908.4(DOLK):c.1110C>T (p.Phe370=)
|
|
|
NM_014908.4(DOLK):c.1116C>T (p.Phe372=)
|
|
|
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.1286A>G (p.Lys429Arg)
|
rs574562542
|
|
NM_014908.4(DOLK):c.129G>C (p.Ser43=)
|
rs372068885
|
|
NM_014908.4(DOLK):c.1320C>G (p.Pro440=)
|
|
|
NM_014908.4(DOLK):c.1332C>T (p.Val444=)
|
|
|
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.1380C>T (p.Thr460=)
|
rs1372552063
|
|
NM_014908.4(DOLK):c.1395C>G (p.Arg465=)
|
|
|
NM_014908.4(DOLK):c.1395C>T (p.Arg465=)
|
rs1045763502
|
|
NM_014908.4(DOLK):c.1407C>T (p.Thr469=)
|
|
|
NM_014908.4(DOLK):c.141G>A (p.Val47=)
|
|
|
NM_014908.4(DOLK):c.1482C>T (p.Asp494=)
|
|
|
NM_014908.4(DOLK):c.1509T>C (p.Tyr503=)
|
rs1331692893
|
|
NM_014908.4(DOLK):c.1536T>G (p.Thr512=)
|
|
|
NM_014908.4(DOLK):c.1563A>G (p.Thr521=)
|
|
|
NM_014908.4(DOLK):c.1596C>G (p.Leu532=)
|
|
|
NM_014908.4(DOLK):c.15C>T (p.Cys5=)
|
|
|
NM_014908.4(DOLK):c.1603T>C (p.Leu535=)
|
|
|
NM_014908.4(DOLK):c.207C>G (p.Ala69=)
|
|
|
NM_014908.4(DOLK):c.207C>T (p.Ala69=)
|
rs145764316
|
|
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.261C>T (p.Val87=)
|
|
|
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.339G>A (p.Val113=)
|
rs2131128893
|
|
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.426C>T (p.Val142=)
|
rs1465958631
|
|
NM_014908.4(DOLK):c.45G>T (p.Pro15=)
|
rs2131129425
|
|
NM_014908.4(DOLK):c.46C>T (p.Leu16=)
|
rs933503741
|
|
NM_014908.4(DOLK):c.495C>A (p.Ile165=)
|
rs149177994
|
|
NM_014908.4(DOLK):c.516G>A (p.Leu172=)
|
|
|
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.597T>A (p.Gly199=)
|
|
|
NM_014908.4(DOLK):c.61C>T (p.Leu21=)
|
|
|
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.708C>T (p.Leu236=)
|
rs1177109504
|
|
NM_014908.4(DOLK):c.732G>A (p.Leu244=)
|
|
|
NM_014908.4(DOLK):c.738C>T (p.Val246=)
|
|
|
NM_014908.4(DOLK):c.747C>T (p.Asp249=)
|
rs2131128124
|
|
NM_014908.4(DOLK):c.816A>G (p.Leu272=)
|
rs1841671262
|
|
NM_014908.4(DOLK):c.834C>A (p.Leu278=)
|
|
|
NM_014908.4(DOLK):c.864T>C (p.Leu288=)
|
|
|
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.966G>C (p.Arg322=)
|
|
|
NM_014908.4(DOLK):c.975C>A (p.Ser325=)
|
rs149462670
|
|
NM_014908.4(DOLK):c.975C>G (p.Ser325=)
|
|
|
NM_019109.5(ALG1):c.102T>C (p.His34=)
|
|
|
NM_019109.5(ALG1):c.1038C>T (p.Pro346=)
|
|
|
NM_019109.5(ALG1):c.1042C>T (p.Leu348=)
|
rs2142722071
|
|
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.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+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.1080G>C (p.Ala360=)
|
|
|
NM_019109.5(ALG1):c.1080G>T (p.Ala360=)
|
rs143939207
|
|
NM_019109.5(ALG1):c.1086G>C (p.Leu362=)
|
|
|
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.1140G>A (p.Val380=)
|
rs2142725780
|
|
NM_019109.5(ALG1):c.1143C>T (p.Asp381=)
|
rs753000258
|
|
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.1188-8C>G
|
|
|
NM_019109.5(ALG1):c.1188-8C>T
|
|
|
NM_019109.5(ALG1):c.1200G>T (p.Leu400=)
|
|
|
NM_019109.5(ALG1):c.1203G>A (p.Val401=)
|
|
|
NM_019109.5(ALG1):c.120G>C (p.Leu40=)
|
|
|
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.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+8C>A
|
|
|
NM_019109.5(ALG1):c.1263+9G>A
|
|
|
NM_019109.5(ALG1):c.1272C>T (p.Phe424=)
|
|
|
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.1314G>C (p.Arg438=)
|
|
|
NM_019109.5(ALG1):c.1317G>A (p.Lys439=)
|
|
|
NM_019109.5(ALG1):c.1324C>A (p.Arg442=)
|
|
|
NM_019109.5(ALG1):c.1326G>A (p.Arg442=)
|
|
|
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.1344A>G (p.Arg448=)
|
|
|
NM_019109.5(ALG1):c.1365G>A (p.Gln455=)
|
|
|
NM_019109.5(ALG1):c.1368T>A (p.Thr456=)
|
rs1455567093
|
|
NM_019109.5(ALG1):c.1392A>G (p.Thr464=)
|
|
|
NM_019109.5(ALG1):c.156C>T (p.His52=)
|
|
|
NM_019109.5(ALG1):c.15C>T (p.Cys5=)
|
|
|
NM_019109.5(ALG1):c.160C>T (p.Leu54=)
|
|
|
NM_019109.5(ALG1):c.162G>T (p.Leu54=)
|
rs2142698659
|
|
NM_019109.5(ALG1):c.165G>C (p.Ser55=)
|
rs2142698676
|
|
NM_019109.5(ALG1):c.16T>C (p.Leu6=)
|
|
|
NM_019109.5(ALG1):c.177C>T (p.His59=)
|
|
|
NM_019109.5(ALG1):c.183C>T (p.Phe61=)
|
|
|
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.201G>C (p.Gly67=)
|
|
|
NM_019109.5(ALG1):c.204C>T (p.Phe68=)
|
rs545347166
|
|
NM_019109.5(ALG1):c.208+13G>C
|
|
|
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+20insTTTG
|
|
|
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.209-4T>A
|
|
|
NM_019109.5(ALG1):c.210C>T (p.Asn70=)
|
rs1376984579
|
|
NM_019109.5(ALG1):c.213C>G (p.Ser71=)
|
|
|
NM_019109.5(ALG1):c.21C>G (p.Val7=)
|
|
|
NM_019109.5(ALG1):c.228G>A (p.Glu76=)
|
|
|
NM_019109.5(ALG1):c.231C>G (p.Leu77=)
|
|
|
NM_019109.5(ALG1):c.244A>C (p.Arg82=)
|
|
|
NM_019109.5(ALG1):c.258G>C (p.Val86=)
|
|
|
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.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.287-18G>A
|
rs1567166306
|
|
NM_019109.5(ALG1):c.287-19G>A
|
|
|
NM_019109.5(ALG1):c.287-9G>T
|
|
|
NM_019109.5(ALG1):c.288T>C (p.Val96=)
|
|
|
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.312A>C (p.Gly104=)
|
|
|
NM_019109.5(ALG1):c.31C>T (p.Leu11=)
|
|
|
NM_019109.5(ALG1):c.324A>G (p.Val108=)
|
|
|
NM_019109.5(ALG1):c.33G>T (p.Leu11=)
|
|
|
NM_019109.5(ALG1):c.363G>A (p.Arg121=)
|
|
|
NM_019109.5(ALG1):c.366G>A (p.Glu122=)
|
|
|
NM_019109.5(ALG1):c.369A>G (p.Pro123=)
|
|
|
NM_019109.5(ALG1):c.372T>C (p.Gly124=)
|
|
|
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>G
|
|
|
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+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.391-5C>T
|
|
|
NM_019109.5(ALG1):c.393C>T (p.Asn131=)
|
|
|
NM_019109.5(ALG1):c.396C>T (p.Pro132=)
|
|
|
NM_019109.5(ALG1):c.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.42G>T (p.Leu14=)
|
|
|
NM_019109.5(ALG1):c.43C>T (p.Leu15=)
|
|
|
NM_019109.5(ALG1):c.456C>T (p.Leu152=)
|
rs764878109
|
|
NM_019109.5(ALG1):c.496C>T (p.Leu166=)
|
|
|
NM_019109.5(ALG1):c.49C>T (p.Leu17=)
|
|
|
NM_019109.5(ALG1):c.507C>T (p.Gly169=)
|
|
|
NM_019109.5(ALG1):c.525T>G (p.Val175=)
|
|
|
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+20G>A
|
|
|
NM_019109.5(ALG1):c.539+7G>T
|
|
|
NM_019109.5(ALG1):c.540-14A>T
|
rs750808125
|
|
NM_019109.5(ALG1):c.540-20C>G
|
|
|
NM_019109.5(ALG1):c.540-8C>T
|
rs2142712041
|
|
NM_019109.5(ALG1):c.54G>A (p.Leu18=)
|
|
|
NM_019109.5(ALG1):c.558G>T (p.Gly186=)
|
|
|
NM_019109.5(ALG1):c.55C>T (p.Leu19=)
|
|
|
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.577C>T (p.Leu193=)
|
|
|
NM_019109.5(ALG1):c.588C>G (p.Thr196=)
|
|
|
NM_019109.5(ALG1):c.609G>C (p.Leu203=)
|
|
|
NM_019109.5(ALG1):c.612G>A (p.Ala204=)
|
|
|
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.630-5T>C
|
|
|
NM_019109.5(ALG1):c.630-7A>G
|
|
|
NM_019109.5(ALG1):c.639C>A (p.Thr213=)
|
|
|
NM_019109.5(ALG1):c.645C>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.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.729G>A (p.Pro243=)
|
|
|
NM_019109.5(ALG1):c.740+10C>T
|
|
|
NM_019109.5(ALG1):c.740+16T>A
|
|
|
NM_019109.5(ALG1):c.740+20C>T
|
|
|
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.741-15T>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.750T>G (p.Pro250=)
|
|
|
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.774G>A (p.Ser258=)
|
|
|
NM_019109.5(ALG1):c.783G>A (p.Thr261=)
|
|
|
NM_019109.5(ALG1):c.792T>C (p.Asp264=)
|
|
|
NM_019109.5(ALG1):c.801C>T (p.Ser267=)
|
rs770104406
|
|
NM_019109.5(ALG1):c.813G>A (p.Thr271=)
|
|
|
NM_019109.5(ALG1):c.819C>G (p.Leu273=)
|
|
|
NM_019109.5(ALG1):c.819C>T (p.Leu273=)
|
rs1292939104
|
|
NM_019109.5(ALG1):c.828G>A (p.Arg276=)
|
rs2142716095
|
|
NM_019109.5(ALG1):c.834C>T (p.Ala278=)
|
|
|
NM_019109.5(ALG1):c.835C>T (p.Leu279=)
|
|
|
NM_019109.5(ALG1):c.837G>C (p.Leu279=)
|
|
|
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.863-12C>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.863-8T>C
|
|
|
NM_019109.5(ALG1):c.879C>T (p.Ser293=)
|
|
|
NM_019109.5(ALG1):c.87G>T (p.Gly29=)
|
rs754060914
|
|
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.88C>A (p.Arg30=)
|
|
|
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.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.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.946G>A (p.Val316Ile)
|
rs150272167
|
|
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+20G>A
|
|
|
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.969G>A (p.Gly323=)
|
|
|
NM_019109.5(ALG1):c.969G>T (p.Gly323=)
|
|
|
NM_019109.5(ALG1):c.96C>A (p.Ala32=)
|
|
|
NM_019109.5(ALG1):c.96C>G (p.Ala32=)
|
|
|
NM_019109.5(ALG1):c.975G>C (p.Leu325=)
|
|
|
NM_019109.5(ALG1):c.97C>A (p.Arg33=)
|
|
|
NM_019109.5(ALG1):c.981G>A (p.Glu327=)
|
|
|
NM_019109.5(ALG1):c.987T>C (p.Tyr329=)
|
|
|
NM_019109.5(ALG1):c.996C>T (p.Leu332=)
|
|
|
NM_019109.5(ALG1):c.9C>T (p.Ala3=)
|
|
|
NM_021645.6(UTP14C):c.-486-14G>T
|
rs752238208
|
|
NM_021645.6(UTP14C):c.-486-7T>C
|
rs2140846961
|
|
NM_024079.5(ALG8):c.1020C>T (p.Cys340=)
|
|
|
NM_024079.5(ALG8):c.1038+16A>G
|
|
|
NM_024079.5(ALG8):c.1039-19C>G
|
|
|
NM_024079.5(ALG8):c.1116C>T (p.Ser372=)
|
|
|
NM_024079.5(ALG8):c.1227G>C (p.Leu409=)
|
rs1590803789
|
|
NM_024079.5(ALG8):c.1277-10_1277-8del
|
rs764468497
|
|
NM_024079.5(ALG8):c.1356A>G (p.Glu452=)
|
|
|
NM_024079.5(ALG8):c.1386C>T (p.Phe462=)
|
|
|
NM_024079.5(ALG8):c.1443C>G (p.Thr481=)
|
rs746756065
|
|
NM_024079.5(ALG8):c.1443C>T (p.Thr481=)
|
|
|
NM_024079.5(ALG8):c.1467C>T (p.Phe489=)
|
|
|
NM_024079.5(ALG8):c.1485C>G (p.Thr495=)
|
|
|
NM_024079.5(ALG8):c.1554T>C (p.Ser518=)
|
|
|
NM_024079.5(ALG8):c.192G>A (p.Thr64=)
|
|
|
NM_024079.5(ALG8):c.345A>C (p.Val115=)
|
|
|
NM_024079.5(ALG8):c.354G>A (p.Val118=)
|
|
|
NM_024079.5(ALG8):c.368+13C>A
|
|
|
NM_024079.5(ALG8):c.368+16G>T
|
|
|
NM_024079.5(ALG8):c.435G>A (p.Leu145=)
|
|
|
NM_024079.5(ALG8):c.441A>G (p.Val147=)
|
|
|
NM_024079.5(ALG8):c.441A>T (p.Val147=)
|
rs112109685
|
|
NM_024079.5(ALG8):c.504T>C (p.Phe168=)
|
|
|
NM_024079.5(ALG8):c.54G>T (p.Ala18=)
|
|
|
NM_024079.5(ALG8):c.643C>A (p.Arg215=)
|
|
|
NM_024079.5(ALG8):c.739T>C (p.Leu247=)
|
|
|
NM_024079.5(ALG8):c.757T>C (p.Leu253=)
|
|
|
NM_024079.5(ALG8):c.898+10C>T
|
|
|
NM_024079.5(ALG8):c.96-15A>G
|
|
|
NM_024079.5(ALG8):c.96-6G>A
|
rs199911532
|
|
NM_024079.5(ALG8):c.993A>T (p.Ser331=)
|
rs758856513
|
|
NM_024105.4(ALG12):c.1023C>T (p.Tyr341=)
|
|
|
NM_024105.4(ALG12):c.1032G>T (p.Gly344=)
|
rs2147580579
|
|
NM_024105.4(ALG12):c.1041T>C (p.Leu347=)
|
rs2147580566
|
|
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.105G>A (p.Glu35=)
|
|
|
NM_024105.4(ALG12):c.1083G>A (p.Thr361=)
|
|
|
NM_024105.4(ALG12):c.1149G>A (p.Val383=)
|
rs778616092
|
|
NM_024105.4(ALG12):c.1152C>T (p.Pro384=)
|
|
|
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.1191C>T (p.Ala397=)
|
|
|
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+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.1266G>A (p.Pro422=)
|
rs771112093
|
|
NM_024105.4(ALG12):c.1272A>C (p.Thr424=)
|
|
|
NM_024105.4(ALG12):c.1284A>G (p.Ala428=)
|
|
|
NM_024105.4(ALG12):c.1287C>T (p.Tyr429=)
|
|
|
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.1338C>T (p.Asp446=)
|
|
|
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.1386G>A (p.Leu462=)
|
|
|
NM_024105.4(ALG12):c.1404C>T (p.Pro468=)
|
|
|
NM_024105.4(ALG12):c.1425G>A (p.Gln475=)
|
|
|
NM_024105.4(ALG12):c.1452C>T (p.Leu484=)
|
rs772352960
|
|
NM_024105.4(ALG12):c.1458G>A (p.Arg486=)
|
|
|
NM_024105.4(ALG12):c.162+10C>A
|
|
|
NM_024105.4(ALG12):c.162+11C>T
|
|
|
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.168C>T (p.Asp56=)
|
|
|
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.201G>A (p.Thr67=)
|
|
|
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.249C>T (p.Tyr83=)
|
|
|
NM_024105.4(ALG12):c.273C>T (p.Ser91=)
|
|
|
NM_024105.4(ALG12):c.282C>T (p.Tyr94=)
|
|
|
NM_024105.4(ALG12):c.295+19A>G
|
|
|
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.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.360G>T (p.Arg120=)
|
|
|
NM_024105.4(ALG12):c.363C>T (p.His121=)
|
|
|
NM_024105.4(ALG12):c.378G>A (p.Val126=)
|
|
|
NM_024105.4(ALG12):c.384C>T (p.Thr128=)
|
|
|
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.438G>A (p.Arg146=)
|
|
|
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.469+15G>T
|
|
|
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.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.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.543C>T (p.Ile181=)
|
|
|
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.612T>G (p.Val204=)
|
|
|
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.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.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.729T>C (p.Leu243=)
|
|
|
NM_024105.4(ALG12):c.72C>T (p.His24=)
|
|
|
NM_024105.4(ALG12):c.768+14T>C
|
|
|
NM_024105.4(ALG12):c.768+14T>G
|
|
|
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>T (p.Tyr263=)
|
rs2147585338
|
|
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.810C>T (p.Arg270=)
|
|
|
NM_024105.4(ALG12):c.81C>T (p.Ile27=)
|
rs2146614807
|
|
NM_024105.4(ALG12):c.831C>G (p.Leu277=)
|
rs753341759
|
|
NM_024105.4(ALG12):c.840C>T (p.Pro280=)
|
|
|
NM_024105.4(ALG12):c.846C>T (p.Gly282=)
|
|
|
NM_024105.4(ALG12):c.864G>T (p.Thr288=)
|
|
|
NM_024105.4(ALG12):c.870G>A (p.Ala290=)
|
|
|
NM_024105.4(ALG12):c.873G>T (p.Pro291=)
|
rs200080075
|
|
NM_024105.4(ALG12):c.903C>G (p.Leu301=)
|
|
|
NM_024105.4(ALG12):c.942C>T (p.Ile314=)
|
|
|
NM_024105.4(ALG12):c.948C>G (p.Ala316=)
|
|
|
NM_024105.4(ALG12):c.981C>T (p.Gly327=)
|
|
|
NM_024105.4(ALG12):c.992+10C>T
|
|
|
NM_024105.4(ALG12):c.993-8T>G
|
|
|
NM_024592.5(SRD5A3):c.114C>T (p.Gly38=)
|
|
|
NM_024592.5(SRD5A3):c.144C>T (p.Asp48=)
|
|
|
NM_024592.5(SRD5A3):c.171T>C (p.Cys57=)
|
|
|
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.243C>T (p.Ile81=)
|
|
|
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.563-16A>C
|
|
|
NM_024592.5(SRD5A3):c.586T>C (p.Leu196=)
|
|
|
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.789C>T (p.Tyr263=)
|
|
|
NM_024592.5(SRD5A3):c.918C>T (p.Tyr306=)
|
|
|
NM_024592.5(SRD5A3):c.927T>C (p.His309=)
|
|
|
NM_024592.5(SRD5A3):c.942A>G (p.Leu314=)
|
rs1488770806
|
|
NM_024740.2(ALG9):c.114C>G (p.Gly38=)
|
|
|
NM_024740.2(ALG9):c.1173+18G>A
|
|
|
NM_024740.2(ALG9):c.1174-5A>T
|
|
|
NM_024740.2(ALG9):c.125G>C (p.Arg42Pro)
|
rs781880611
|
|
NM_024740.2(ALG9):c.131+10C>T
|
|
|
NM_024740.2(ALG9):c.131+7G>C
|
|
|
NM_024740.2(ALG9):c.132-13_132-12insTTG
|
|
|
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.1350T>C (p.Tyr450=)
|
|
|
NM_024740.2(ALG9):c.1377C>T (p.Asp459=)
|
rs2136830008
|
|
NM_024740.2(ALG9):c.141G>A (p.Gly47=)
|
|
|
NM_024740.2(ALG9):c.1500G>A (p.Glu500=)
|
|
|
NM_024740.2(ALG9):c.1567A>G (p.Met523Val)
|
|
|
NM_024740.2(ALG9):c.1644C>G (p.Thr548=)
|
|
|
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.270+17G>C
|
|
|
NM_024740.2(ALG9):c.271-10G>A
|
|
|
NM_024740.2(ALG9):c.27C>T (p.Arg9=)
|
|
|
NM_024740.2(ALG9):c.294A>G (p.Glu98=)
|
|
|
NM_024740.2(ALG9):c.405+9A>T
|
|
|
NM_024740.2(ALG9):c.414G>A (p.Val138=)
|
|
|
NM_024740.2(ALG9):c.546C>A (p.Gly182=)
|
|
|
NM_024740.2(ALG9):c.702-9_702-8del
|
|
|
NM_024740.2(ALG9):c.790-20T>C
|
|
|
NM_024740.2(ALG9):c.846C>T (p.Leu282=)
|
|
|
NM_033087.4(ALG2):c.1047C>T (p.Pro349=)
|
rs1588618685
|
|
NM_033087.4(ALG2):c.1056C>G (p.Ser352=)
|
|
|
NM_033087.4(ALG2):c.1062C>T (p.Asp354=)
|
|
|
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.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.1248A>G (p.Val416=)
|
rs1828721761
|
|
NM_033087.4(ALG2):c.135T>C (p.Cys45=)
|
|
|
NM_033087.4(ALG2):c.144G>A (p.Lys48=)
|
|
|
NM_033087.4(ALG2):c.147C>T (p.Ile49=)
|
|
|
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.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.216G>C (p.Gly72=)
|
|
|
NM_033087.4(ALG2):c.228G>C (p.Pro76=)
|
|
|
NM_033087.4(ALG2):c.246C>T (p.Gly82=)
|
|
|
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.297C>G (p.Leu99=)
|
|
|
NM_033087.4(ALG2):c.306G>C (p.Leu102=)
|
|
|
NM_033087.4(ALG2):c.309C>T (p.Phe103=)
|
|
|
NM_033087.4(ALG2):c.315C>T (p.Ala105=)
|
rs1588620487
|
|
NM_033087.4(ALG2):c.324G>A (p.Glu108=)
|
|
|
NM_033087.4(ALG2):c.327C>T (p.Phe109=)
|
|
|
NM_033087.4(ALG2):c.339G>A (p.Val113=)
|
rs1554708016
|
|
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.351G>T (p.Val117=)
|
|
|
NM_033087.4(ALG2):c.42G>A (p.Lys14=)
|
|
|
NM_033087.4(ALG2):c.453T>A (p.Leu151=)
|
|
|
NM_033087.4(ALG2):c.57C>T (p.Phe19=)
|
|
|
NM_033087.4(ALG2):c.627C>T (p.Asp209=)
|
rs1187766399
|
|
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.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.75C>G (p.Gly25=)
|
rs1410757499
|
|
NM_033087.4(ALG2):c.760T>C (p.Leu254=)
|
rs62562374
|
|
NM_033087.4(ALG2):c.795C>A (p.Ile265=)
|
rs183416022
|
|
NM_033087.4(ALG2):c.81C>T (p.Gly27=)
|
|
|
NM_033087.4(ALG2):c.873C>T (p.Ser291=)
|
|
|
NM_033087.4(ALG2):c.918A>G (p.Lys306=)
|
|
|
NM_033087.4(ALG2):c.957T>C (p.Leu319=)
|
|
|
NM_033087.4(ALG2):c.96G>A (p.Leu32=)
|
|
|
NM_033087.4(ALG2):c.984C>G (p.Gly328=)
|
|
|
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.1102+17T>C
|
|
|
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.1143G>C (p.Leu381=)
|
|
|
NM_052859.4(RFT1):c.1167G>A (p.Glu389=)
|
|
|
NM_052859.4(RFT1):c.1197G>A (p.Glu399=)
|
rs765986260
|
|
NM_052859.4(RFT1):c.1208+11T>C
|
|
|
NM_052859.4(RFT1):c.1208+7A>G
|
|
|
NM_052859.4(RFT1):c.1209-18T>C
|
|
|
NM_052859.4(RFT1):c.129C>T (p.Ile43=)
|
rs148510042
|
|
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.1359C>T (p.Tyr453=)
|
|
|
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.1401A>T (p.Leu467=)
|
|
|
NM_052859.4(RFT1):c.1404G>A (p.Ser468=)
|
rs1366809549
|
|
NM_052859.4(RFT1):c.1416C>T (p.Leu472=)
|
|
|
NM_052859.4(RFT1):c.144T>C (p.Asn48=)
|
|
|
NM_052859.4(RFT1):c.1458+15G>C
|
|
|
NM_052859.4(RFT1):c.1458+16C>T
|
|
|
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.1476G>A (p.Glu492=)
|
rs1701005503
|
|
NM_052859.4(RFT1):c.1479G>A (p.Gln493=)
|
rs780448463
|
|
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.1515G>A (p.Gly505=)
|
|
|
NM_052859.4(RFT1):c.153A>G (p.Leu51=)
|
|
|
NM_052859.4(RFT1):c.1560G>A (p.Glu520=)
|
rs369800703
|
|
NM_052859.4(RFT1):c.156G>T (p.Thr52=)
|
|
|
NM_052859.4(RFT1):c.1581C>T (p.Leu527=)
|
rs2107069217
|
|
NM_052859.4(RFT1):c.1608C>G (p.Arg536=)
|
|
|
NM_052859.4(RFT1):c.1608C>T (p.Arg536=)
|
|
|
NM_052859.4(RFT1):c.18G>T (p.Val6=)
|
|
|
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+20G>A
|
|
|
NM_052859.4(RFT1):c.267-16T>A
|
rs2107165275
|
|
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.273C>G (p.Pro91=)
|
|
|
NM_052859.4(RFT1):c.27C>T (p.His9=)
|
|
|
NM_052859.4(RFT1):c.30G>A (p.Ala10=)
|
|
|
NM_052859.4(RFT1):c.324T>C (p.Leu108=)
|
rs2107164889
|
|
NM_052859.4(RFT1):c.33C>T (p.Ala11=)
|
|
|
NM_052859.4(RFT1):c.34C>A (p.Arg12=)
|
|
|
NM_052859.4(RFT1):c.351T>C (p.Pro117=)
|
|
|
NM_052859.4(RFT1):c.373C>T (p.Leu125=)
|
rs1701996497
|
|
NM_052859.4(RFT1):c.384C>T (p.Leu128=)
|
|
|
NM_052859.4(RFT1):c.405A>G (p.Leu135=)
|
|
|
NM_052859.4(RFT1):c.457-19C>G
|
rs2107162471
|
|
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.498G>A (p.Leu166=)
|
|
|
NM_052859.4(RFT1):c.501A>G (p.Thr167=)
|
|
|
NM_052859.4(RFT1):c.510C>T (p.Leu170=)
|
|
|
NM_052859.4(RFT1):c.54C>T (p.Leu18=)
|
|
|
NM_052859.4(RFT1):c.558+10A>G
|
|
|
NM_052859.4(RFT1):c.559-14del
|
|
|
NM_052859.4(RFT1):c.559-20C>T
|
rs2107157946
|
|
NM_052859.4(RFT1):c.58C>T (p.Leu20=)
|
|
|
NM_052859.4(RFT1):c.613C>T (p.Leu205=)
|
|
|
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.642A>G (p.Gln214=)
|
|
|
NM_052859.4(RFT1):c.66G>A (p.Val22=)
|
rs2107173481
|
|
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.738T>C (p.Phe246=)
|
|
|
NM_052859.4(RFT1):c.744A>G (p.Lys248=)
|
|
|
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+9A>C
|
|
|
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.826+16G>A
|
|
|
NM_052859.4(RFT1):c.827-3dup
|
|
|
NM_052859.4(RFT1):c.945A>G (p.Thr315=)
|
|
|
NM_052859.4(RFT1):c.954G>A (p.Lys318=)
|
|
|
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_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.120C>T (p.Cys40=)
|
|
|
NM_138459.5(NUS1):c.138C>G (p.Ala46=)
|
|
|
NM_138459.5(NUS1):c.156C>G (p.Leu52=)
|
|
|
NM_138459.5(NUS1):c.165G>A (p.Thr55=)
|
|
|
NM_138459.5(NUS1):c.180G>A (p.Pro60=)
|
rs1772967652
|
|
NM_138459.5(NUS1):c.195C>T (p.Asn65=)
|
|
|
NM_138459.5(NUS1):c.204C>T (p.His68=)
|
|
|
NM_138459.5(NUS1):c.216G>A (p.Pro72=)
|
|
|
NM_138459.5(NUS1):c.225G>C (p.Gly75=)
|
|
|
NM_138459.5(NUS1):c.231C>T (p.Cys77=)
|
|
|
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.270C>T (p.Asp90=)
|
|
|
NM_138459.5(NUS1):c.276T>C (p.Arg92=)
|
|
|
NM_138459.5(NUS1):c.280T>C (p.Leu94=)
|
|
|
NM_138459.5(NUS1):c.291G>A (p.Leu97=)
|
|
|
NM_138459.5(NUS1):c.30G>A (p.Arg10=)
|
|
|
NM_138459.5(NUS1):c.30G>T (p.Arg10=)
|
rs937504375
|
|
NM_138459.5(NUS1):c.336C>T (p.Pro112=)
|
|
|
NM_138459.5(NUS1):c.351C>T (p.Ile117=)
|
|
|
NM_138459.5(NUS1):c.354G>A (p.Ala118=)
|
|
|
NM_138459.5(NUS1):c.360C>A (p.Leu120=)
|
rs1772974013
|
|
NM_138459.5(NUS1):c.36G>A (p.Leu12=)
|
rs2114674325
|
|
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.416-11C>T
|
|
|
NM_138459.5(NUS1):c.416-6T>C
|
rs754507170
|
|
NM_138459.5(NUS1):c.416-6T>G
|
rs754507170
|
|
NM_138459.5(NUS1):c.417T>C (p.Gly139=)
|
|
|
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.480G>A (p.Leu160=)
|
rs2114686734
|
|
NM_138459.5(NUS1):c.519T>C (p.Asn173=)
|
|
|
NM_138459.5(NUS1):c.541+10A>C
|
rs1051471000
|
|
NM_138459.5(NUS1):c.541+8T>C
|
rs1250234517
|
|
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.561A>T (p.Ala187=)
|
rs767054326
|
|
NM_138459.5(NUS1):c.567G>A (p.Lys189=)
|
|
|
NM_138459.5(NUS1):c.573G>A (p.Leu191=)
|
rs1052232
|
|
NM_138459.5(NUS1):c.573G>T (p.Leu191=)
|
|
|
NM_138459.5(NUS1):c.57C>T (p.His19=)
|
|
|
NM_138459.5(NUS1):c.585T>C (p.Asp195=)
|
|
|
NM_138459.5(NUS1):c.612T>C (p.Ala204=)
|
rs1382268428
|
|
NM_138459.5(NUS1):c.627G>A (p.Gln209=)
|
|
|
NM_138459.5(NUS1):c.63G>C (p.Thr21=)
|
rs550854234
|
|
NM_138459.5(NUS1):c.648G>A (p.Lys216=)
|
|
|
NM_138459.5(NUS1):c.669A>T (p.Val223=)
|
|
|
NM_138459.5(NUS1):c.66C>A (p.Leu22=)
|
rs1772962927
|
|
NM_138459.5(NUS1):c.676T>C (p.Leu226=)
|
rs1773283339
|
|
NM_138459.5(NUS1):c.681C>G (p.Ala227=)
|
|
|
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+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.6G>C (p.Thr2=)
|
|
|
NM_138459.5(NUS1):c.750A>G (p.Thr250=)
|
|
|
NM_138459.5(NUS1):c.756C>T (p.Gly252=)
|
|
|
NM_138459.5(NUS1):c.762T>G (p.Leu254=)
|
rs2114693923
|
|
NM_138459.5(NUS1):c.765C>T (p.Pro255=)
|
|
|
NM_138459.5(NUS1):c.791+16C>G
|
|
|
NM_138459.5(NUS1):c.791+16C>T
|
|
|
NM_138459.5(NUS1):c.791+7A>G
|
rs749556280
|
|
NM_138459.5(NUS1):c.791+7A>T
|
|
|
NM_138459.5(NUS1):c.791+9_791+12del
|
rs1213017281
|
|
NM_138459.5(NUS1):c.792-13G>T
|
rs1185248187
|
|
NM_138459.5(NUS1):c.792-18C>T
|
|
|
NM_138459.5(NUS1):c.792-19C>T
|
|
|
NM_138459.5(NUS1):c.792-20C>T
|
|
|
NM_138459.5(NUS1):c.796T>C (p.Leu266=)
|
|
|
NM_138459.5(NUS1):c.807C>T (p.His269=)
|
|
|
NM_138459.5(NUS1):c.810A>G (p.Leu270=)
|
|
|
NM_138459.5(NUS1):c.825G>A (p.Glu275=)
|
|
|
NM_138459.5(NUS1):c.828C>T (p.Asp276=)
|
|
|
NM_138459.5(NUS1):c.867G>A (p.Gln289=)
|
|
|
NM_138459.5(NUS1):c.882G>A (p.Ter294=)
|
|
|
NM_138459.5(NUS1):c.90C>T (p.Phe30=)
|
|
|
NM_152713.5(STT3A):c.1775-8dup
|
rs750373548
|
|
NM_153741.2(DPM3):c.111C>T (p.Val37=)
|
rs2102491788
|
|
NM_153741.2(DPM3):c.39C>T (p.Ile13=)
|
|
|
NM_153741.2(DPM3):c.42G>A (p.Leu14=)
|
|
|
NM_153741.2(DPM3):c.48C>T (p.Ser16=)
|
rs753265590
|
|
NM_153741.2(DPM3):c.6G>A (p.Thr2=)
|
|
|
NM_153741.2(DPM3):c.81C>T (p.Gly27=)
|
|
|
NM_178862.3(STT3B):c.1170T>C (p.Thr390=)
|
rs753179796
|
|
NM_178862.3(STT3B):c.1500T>C (p.Asp500=)
|
|
|
NM_178862.3(STT3B):c.1533T>C (p.Tyr511=)
|
|
|
NM_178862.3(STT3B):c.1638A>G (p.Leu546=)
|
|
|
NM_178862.3(STT3B):c.1725T>C (p.Asp575=)
|
rs1699478483
|
|
NM_178862.3(STT3B):c.1727+15C>T
|
|
|
NM_178862.3(STT3B):c.1899+15_1899+16del
|
rs764481566
|
|
NM_178862.3(STT3B):c.1900-11A>T
|
|
|
NM_178862.3(STT3B):c.1900-12T>A
|
|
|
NM_178862.3(STT3B):c.201G>C (p.Gly67=)
|
|
|
NM_178862.3(STT3B):c.225C>T (p.Thr75=)
|
rs564276250
|
|
NM_178862.3(STT3B):c.2349C>T (p.His783=)
|
|
|
NM_178862.3(STT3B):c.2361C>A (p.Val787=)
|
|
|
NM_178862.3(STT3B):c.2401-17_2401-16del
|
|
|
NM_178862.3(STT3B):c.264C>T (p.Arg88=)
|
rs2125430322
|
|
NM_178862.3(STT3B):c.33C>T (p.His11=)
|
|
|
NM_178862.3(STT3B):c.424-5C>T
|
rs1488969630
|
|
NM_178862.3(STT3B):c.525A>G (p.Pro175=)
|
|
|
NM_178862.3(STT3B):c.598T>C (p.Leu200=)
|
|
|
NM_178862.3(STT3B):c.765C>G (p.Ser255=)
|
rs1698803700
|
|
NM_178862.3(STT3B):c.778-12C>A
|
|
|
NM_178862.3(STT3B):c.878-15A>G
|
rs761971315
|
|
NM_178862.3(STT3B):c.976+7A>T
|
rs2125471874
|
|
NM_201400.4(EEF2KMT):c.*891A>T
|
rs3187779
|
|
NM_201400.4(EEF2KMT):c.*892A>C
|
|
|
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
|
|