NM_145239.3(PRRT2):c.751T>C (p.Leu251=)
|
rs11150573
|
0.99277
|
NM_001044.5(SLC6A3):c.1498+14A>G
|
rs429699
|
0.98180
|
NM_003054.6(SLC18A2):c.-15-39A>C
|
rs2619094
|
0.94938
|
NM_152296.5(ATP1A3):c.666T>G (p.Thr222=)
|
rs2217342
|
0.93139
|
NM_003054.6(SLC18A2):c.700+15C>T
|
rs2072362
|
0.90152
|
NM_001282684.2(KCTD17):c.405C>T (p.His135=)
|
rs710185
|
0.80939
|
NM_003054.6(SLC18A2):c.791-42C>A
|
rs363343
|
0.74530
|
NM_152296.5(ATP1A3):c.*39C>G
|
rs919390
|
0.69962
|
NM_015488.5(PNKD):c.237-8707G>A
|
rs10932775
|
0.45181
|
NM_015488.5(PNKD):c.*902T>C
|
rs1052578
|
0.43563
|
NM_015488.5(PNKD):c.*1077G>A
|
rs9076
|
0.43520
|
NM_015488.5(PNKD):c.*92C>A
|
rs921970
|
0.35927
|
NM_001044.5(SLC6A3):c.1215A>G (p.Ser405=)
|
rs6347
|
0.32752
|
NM_001044.5(SLC6A3):c.*35T>C
|
rs1042098
|
0.31144
|
NM_001044.5(SLC6A3):c.419-12C>A
|
rs460000
|
0.30619
|
NM_006516.4(SLC2A1):c.-197A>C
|
rs11537640
|
0.23186
|
NM_006516.2(SLC2A1):c.-390delA
|
rs28365848
|
0.23160
|
NM_003690.5(PRKRA):c.*313G>A
|
rs3997879
|
0.22352
|
NM_003690.5(PRKRA):c.*158A>G
|
rs3997877
|
0.22348
|
NM_003690.5(PRKRA):c.685C>T (p.Leu229=)
|
rs62176107
|
0.22118
|
NM_006516.4(SLC2A1):c.45C>T (p.Ala15=)
|
rs1385129
|
0.21537
|
NM_003690.5(PRKRA):c.*553A>G
|
rs3997881
|
0.21501
|
NM_003690.5(PRKRA):c.*198C>T
|
rs3997878
|
0.21384
|
NM_003690.5(PRKRA):c.*3C>T
|
rs3997876
|
0.21371
|
NM_006516.4(SLC2A1):c.399C>T (p.Cys133=)
|
rs11537641
|
0.16943
|
NM_003690.5(PRKRA):c.-24G>A
|
rs62176113
|
0.15636
|
NM_006516.2(SLC2A1):c.-490G>C
|
rs3754226
|
0.14227
|
NM_003690.5(PRKRA):c.677T>A (p.Ile226Asn)
|
rs77419724
|
0.13676
|
NM_001282684.2(KCTD17):c.55G>A (p.Ala19Thr)
|
rs113687833
|
0.11849
|
NM_003919.3(SGCE):c.391-43A>C
|
rs2272091
|
0.10996
|
NM_015488.5(PNKD):c.*507G>C
|
rs7586140
|
0.09268
|
NM_001044.5(SLC6A3):c.286+20C>G
|
rs8179023
|
0.09016
|
NM_003919.3(SGCE):c.391-3T>C
|
rs17166384
|
0.08209
|
NM_001044.5(SLC6A3):c.810C>T (p.Ala270=)
|
rs6348
|
0.07818
|
NM_003690.5(PRKRA):c.*655T>C
|
rs4533501
|
0.06663
|
NM_006516.4(SLC2A1):c.966C>T (p.Val322=)
|
rs2229680
|
0.06553
|
NM_015488.5(PNKD):c.486G>A (p.Gly162=)
|
rs34014804
|
0.06442
|
NM_001044.5(SLC6A3):c.114C>T (p.Asn38=)
|
rs6350
|
0.05616
|
NM_003690.5(PRKRA):c.173A>G (p.Asp58Gly)
|
rs61999302
|
0.05287
|
NM_006516.4(SLC2A1):c.*1213G>T
|
rs55728431
|
0.04893
|
NM_003690.5(PRKRA):c.549T>C (p.Asn183=)
|
rs61746229
|
0.04819
|
NM_003690.5(PRKRA):c.1A>C (p.Met1Leu)
|
rs9406386
|
0.04659
|
NM_006516.4(SLC2A1):c.1065A>G (p.Leu355=)
|
rs2228490
|
0.04552
|
NM_015488.5(PNKD):c.*1193C>T
|
rs76752438
|
0.04131
|
NM_001044.5(SLC6A3):c.150G>T (p.Pro50=)
|
rs6346
|
0.04096
|
NM_001282684.2(KCTD17):c.897C>T (p.Pro299=)
|
rs116956945
|
0.03645
|
NM_001044.5(SLC6A3):c.1731C>T (p.Ala577=)
|
rs6349
|
0.02926
|
NM_001044.5(SLC6A3):c.1527G>A (p.Gln509=)
|
rs6880875
|
0.02803
|
NM_015488.5(PNKD):c.652C>A (p.Arg218=)
|
rs34745867
|
0.02221
|
NM_003690.5(PRKRA):c.609+20A>G
|
rs73973115
|
0.02096
|
NM_003690.5(PRKRA):c.*200G>A
|
rs141995027
|
0.01989
|
NM_015488.5(PNKD):c.455G>A (p.Arg152Gln)
|
rs73990423
|
0.01825
|
NM_006516.4(SLC2A1):c.-190G>C
|
rs114514007
|
0.01675
|
NM_152296.5(ATP1A3):c.994-20T>G
|
rs138485069
|
0.01603
|
NM_015488.5(PNKD):c.939G>A (p.Arg313=)
|
rs116144189
|
0.01354
|
NM_152296.5(ATP1A3):c.*106T>C
|
rs180885057
|
0.01288
|
NM_152296.5(ATP1A3):c.2319T>C (p.Asn773=)
|
rs61733017
|
0.01238
|
NM_152296.5(ATP1A3):c.2264-16C>T
|
rs149116776
|
0.01189
|
NM_006516.4(SLC2A1):c.19-207T>C
|
rs41310434
|
0.01173
|
NM_003690.5(PRKRA):c.*159T>C
|
rs115244185
|
0.01037
|
NM_006516.4(SLC2A1):c.973-17A>G
|
rs111596088
|
0.01025
|
NM_001044.5(SLC6A3):c.653+13C>T
|
rs16878300
|
0.00986
|
NM_003690.5(PRKRA):c.861C>T (p.Ser287=)
|
rs116833881
|
0.00976
|
NM_015488.5(PNKD):c.*1723T>C
|
rs58320146
|
0.00937
|
NM_003919.3(SGCE):c.1253+814G>A
|
rs183951730
|
0.00875
|
NM_152296.5(ATP1A3):c.2610C>T (p.Pro870=)
|
rs35272495
|
0.00802
|
NM_152296.5(ATP1A3):c.2487G>A (p.Pro829=)
|
rs45606534
|
0.00759
|
NM_006516.4(SLC2A1):c.*60C>T
|
rs2229684
|
0.00754
|
NM_145239.3(PRRT2):c.751= (p.Leu251=)
|
rs11150573
|
0.00723
|
NM_015488.4(PNKD):c.-105A>T
|
rs183319984
|
0.00706
|
NM_003690.5(PRKRA):c.795C>T (p.Ser265=)
|
rs150679361
|
0.00662
|
NM_015488.5(PNKD):c.*992C>G
|
rs115429065
|
0.00623
|
NM_003919.3(SGCE):c.*101A>G
|
rs193172306
|
0.00600
|
NM_001044.5(SLC6A3):c.162C>T (p.Pro54=)
|
rs6351
|
0.00589
|
NM_015488.5(PNKD):c.*211C>T
|
rs189926206
|
0.00565
|
NM_015488.5(PNKD):c.*1665G>A
|
rs145193682
|
0.00564
|
NM_145239.3(PRRT2):c.412C>G (p.Pro138Ala)
|
rs79182085
|
0.00560
|
NM_006516.4(SLC2A1):c.417C>T (p.Phe139=)
|
rs144538918
|
0.00517
|
NM_001044.5(SLC6A3):c.1413C>G (p.Val471=)
|
rs8179035
|
0.00436
|
NM_001282684.2(KCTD17):c.791G>A (p.Arg264His)
|
rs146127576
|
0.00432
|
NM_015488.5(PNKD):c.*451A>G
|
rs148230498
|
0.00414
|
NM_003690.5(PRKRA):c.32C>T (p.Pro11Leu)
|
rs62176112
|
0.00410
|
NM_001044.5(SLC6A3):c.546C>T (p.Asn182=)
|
rs28364996
|
0.00396
|
NM_003919.3(SGCE):c.369G>C (p.Val123=)
|
rs140913016
|
0.00393
|
NM_006516.4(SLC2A1):c.*1587A>G
|
rs140560514
|
0.00366
|
NM_015836.4(WARS2):c.37T>G (p.Trp13Gly)
|
rs139548132
|
0.00360
|
NM_145239.3(PRRT2):c.880-14C>T
|
rs148323840
|
0.00326
|
NM_001282684.2(KCTD17):c.336G>A (p.Pro112=)
|
rs35901190
|
0.00322
|
NM_003690.5(PRKRA):c.784+6A>T
|
rs188208530
|
0.00302
|
NM_003919.3(SGCE):c.769A>C (p.Thr257Pro)
|
rs116105264
|
0.00283
|
NM_152296.5(ATP1A3):c.2819+20G>A
|
rs148592392
|
0.00279
|
NM_006516.4(SLC2A1):c.1296C>T (p.Tyr432=)
|
rs75485205
|
0.00267
|
NM_152296.5(ATP1A3):c.2334G>A (p.Thr778=)
|
rs145374789
|
0.00243
|
NM_152296.5(ATP1A3):c.2921+11C>T
|
rs190570469
|
0.00230
|
NM_001044.5(SLC6A3):c.1692C>T (p.Ile564=)
|
rs28364998
|
0.00228
|
NM_015488.5(PNKD):c.*607T>C
|
rs141201996
|
0.00217
|
NM_003690.5(PRKRA):c.*31G>A
|
rs372585947
|
0.00216
|
NM_152296.5(ATP1A3):c.1944-20G>T
|
rs200665663
|
0.00216
|
NM_006516.4(SLC2A1):c.*1588G>A
|
rs189700252
|
0.00206
|
NM_001044.5(SLC6A3):c.1398C>T (p.Asn466=)
|
rs2270912
|
0.00194
|
NM_152296.5(ATP1A3):c.154-5C>G
|
rs191645384
|
0.00188
|
NM_152296.5(ATP1A3):c.2976C>T (p.Asp992=)
|
rs146199765
|
0.00177
|
NM_004606.5(TAF1):c.4708C>T (p.Leu1570=)
|
rs142496099
|
0.00176
|
NM_006516.4(SLC2A1):c.27G>A (p.Thr9=)
|
rs34025424
|
0.00176
|
NM_015488.5(PNKD):c.236+1180G>A
|
rs148049021
|
0.00172
|
NM_003690.5(PRKRA):c.-104G>A
|
rs545506202
|
0.00168
|
NM_003690.5(PRKRA):c.65+16G>A
|
rs565738732
|
0.00168
|
NM_006516.4(SLC2A1):c.*626G>A
|
rs6413525
|
0.00163
|
NM_001282684.2(KCTD17):c.916C>G (p.His306Asp)
|
rs146711968
|
0.00156
|
NM_001044.5(SLC6A3):c.1839+9G>A
|
rs184515054
|
0.00152
|
NM_001044.5(SLC6A3):c.1356C>T (p.Ile452=)
|
rs115529609
|
0.00150
|
NM_152296.5(ATP1A3):c.1943+12A>T
|
rs201197776
|
0.00146
|
NM_003919.3(SGCE):c.1254-10T>C
|
rs142854334
|
0.00144
|
NM_015488.5(PNKD):c.254G>A (p.Arg85His)
|
rs150402000
|
0.00140
|
NM_152296.5(ATP1A3):c.816G>A (p.Thr272=)
|
rs149898088
|
0.00140
|
NM_015488.5(PNKD):c.265G>A (p.Gly89Arg)
|
rs147259983
|
0.00139
|
NM_145239.3(PRRT2):c.612C>G (p.Pro204=)
|
rs149260055
|
0.00129
|
NM_145239.3(PRRT2):c.133C>T (p.Pro45Ser)
|
rs11556732
|
0.00118
|
NM_001282684.2(KCTD17):c.390+6G>A
|
rs149432408
|
0.00111
|
NM_145239.3(PRRT2):c.67G>A (p.Glu23Lys)
|
rs140383655
|
0.00110
|
NM_152296.5(ATP1A3):c.357C>T (p.Asn119=)
|
rs143547136
|
0.00108
|
NM_003919.3(SGCE):c.606A>G (p.Thr202=)
|
rs148979783
|
0.00105
|
NM_006516.4(SLC2A1):c.*346G>A
|
rs190760291
|
0.00104
|
NM_006516.4(SLC2A1):c.507C>T (p.Leu169=)
|
rs115541691
|
0.00102
|
NM_015488.5(PNKD):c.*1549G>A
|
rs79061826
|
0.00102
|
NM_145239.3(PRRT2):c.640G>C (p.Ala214Pro)
|
rs745594874
|
0.00093
|
NM_001044.5(SLC6A3):c.1032-18C>T
|
rs8179028
|
0.00090
|
NM_015488.4(PNKD):c.*1821C>T
|
rs142330726
|
0.00090
|
NM_006516.4(SLC2A1):c.680-12C>T
|
rs150960456
|
0.00088
|
NM_006516.4(SLC2A1):c.*571C>T
|
rs6413524
|
0.00083
|
NM_015488.5(PNKD):c.835C>T (p.Leu279=)
|
rs149643391
|
0.00082
|
NM_006516.4(SLC2A1):c.*22G>A
|
rs2229683
|
0.00081
|
NM_006516.4(SLC2A1):c.1170C>T (p.Ile390=)
|
rs2236574
|
0.00081
|
NM_001044.5(SLC6A3):c.499C>T (p.Leu167Phe)
|
rs71653633
|
0.00080
|
NM_152296.5(ATP1A3):c.1260C>T (p.Arg420=)
|
rs113909283
|
0.00080
|
NM_015488.5(PNKD):c.*38G>A
|
rs201679687
|
0.00078
|
NM_015488.5(PNKD):c.524+13C>T
|
rs150529046
|
0.00078
|
NM_152296.5(ATP1A3):c.*315G>A
|
rs571857150
|
0.00073
|
NM_006516.4(SLC2A1):c.1372C>A (p.Arg458=)
|
rs13306758
|
0.00070
|
NM_015488.5(PNKD):c.466-11C>T
|
rs142473649
|
0.00070
|
NM_001044.5(SLC6A3):c.1080C>T (p.Ser360=)
|
rs142241083
|
0.00069
|
NM_006516.4(SLC2A1):c.777C>T (p.Ile259=)
|
rs78388808
|
0.00068
|
NM_015488.5(PNKD):c.*1139C>G
|
rs547847157
|
0.00068
|
NM_003690.4(PRKRA):c.-149T>C
|
rs559331370
|
0.00066
|
NM_006516.4(SLC2A1):c.1437C>T (p.Pro479=)
|
rs146879902
|
0.00065
|
NM_152296.5(ATP1A3):c.2838C>T (p.Phe946=)
|
rs141421692
|
0.00065
|
NM_015488.5(PNKD):c.352+12C>T
|
rs201092853
|
0.00064
|
NM_006516.4(SLC2A1):c.275+17C>T
|
rs761669510
|
0.00061
|
NM_152296.5(ATP1A3):c.192G>A (p.Arg64=)
|
rs146053862
|
0.00061
|
NM_003690.5(PRKRA):c.-124C>A
|
rs186454714
|
0.00060
|
NM_003690.5(PRKRA):c.-125G>A
|
rs190533045
|
0.00060
|
NM_001044.5(SLC6A3):c.1676C>T (p.Ala559Val)
|
rs28364997
|
0.00059
|
NM_152296.5(ATP1A3):c.2653G>A (p.Val885Ile)
|
rs149600313
|
0.00058
|
NM_001044.5(SLC6A3):c.60G>A (p.Glu20=)
|
rs115160598
|
0.00057
|
NM_001044.5(SLC6A3):c.78G>A (p.Pro26=)
|
rs144264359
|
0.00057
|
NM_015488.5(PNKD):c.*155C>T
|
rs753020574
|
0.00054
|
NM_015488.5(PNKD):c.321C>T (p.Gly107=)
|
rs144856848
|
0.00053
|
NM_015488.5(PNKD):c.919G>A (p.Glu307Lys)
|
rs139825405
|
0.00053
|
NM_003919.2(SGCE):c.-84T>C
|
rs747133401
|
0.00052
|
NM_152296.5(ATP1A3):c.1387C>T (p.Arg463Cys)
|
rs150785666
|
0.00050
|
NM_145239.3(PRRT2):c.645C>T (p.Pro215=)
|
rs183683129
|
0.00049
|
NM_006516.4(SLC2A1):c.864C>T (p.Asn288=)
|
rs150384629
|
0.00047
|
NM_152296.5(ATP1A3):c.994-3C>G
|
rs377256877
|
0.00046
|
NM_004606.5(TAF1):c.422C>T (p.Pro141Leu)
|
rs141145230
|
0.00045
|
NM_001044.5(SLC6A3):c.1155C>T (p.Asp385=)
|
rs145114326
|
0.00044
|
NM_015488.5(PNKD):c.237-9G>A
|
rs371173395
|
0.00044
|
NM_145239.3(PRRT2):c.439G>C (p.Asp147His)
|
rs79568162
|
0.00044
|
NM_152296.5(ATP1A3):c.*236T>C
|
rs199854166
|
0.00044
|
NM_145239.3(PRRT2):c.828C>T (p.Cys276=)
|
rs35625748
|
0.00043
|
NM_003690.5(PRKRA):c.-64C>G
|
rs576729883
|
0.00041
|
NM_015488.5(PNKD):c.*1490G>A
|
rs971155594
|
0.00041
|
NM_001044.5(SLC6A3):c.1470C>T (p.Ile490=)
|
rs8179034
|
0.00039
|
NM_145239.3(PRRT2):c.644C>G (p.Pro215Arg)
|
rs200926711
|
0.00039
|
NM_006516.4(SLC2A1):c.*1337A>C
|
rs113441673
|
0.00038
|
NM_003919.2(SGCE):c.-97G>A
|
rs529057223
|
0.00037
|
NM_003690.5(PRKRA):c.*79G>A
|
rs9678530
|
0.00036
|
NM_003919.3(SGCE):c.510T>C (p.Asn170=)
|
rs55853245
|
0.00036
|
NM_001044.5(SLC6A3):c.1086C>T (p.Phe362=)
|
rs28363072
|
0.00035
|
NM_001044.5(SLC6A3):c.1600-17G>A
|
rs370345490
|
0.00035
|
NM_001282684.2(KCTD17):c.298+9G>C
|
rs374499572
|
0.00035
|
NM_015488.5(PNKD):c.781+12C>T
|
rs370963150
|
0.00035
|
NM_001044.5(SLC6A3):c.456C>T (p.Val152=)
|
rs147399016
|
0.00034
|
NM_001044.5(SLC6A3):c.70G>A (p.Val24Met)
|
rs201800694
|
0.00034
|
NM_001044.5(SLC6A3):c.1498+10G>A
|
rs759848180
|
0.00033
|
NM_001282684.2(KCTD17):c.882C>T (p.Tyr294=)
|
rs142739650
|
0.00033
|
NM_003919.3(SGCE):c.*172T>C
|
rs112954947
|
0.00033
|
NM_004606.5(TAF1):c.4698G>A (p.Arg1566=)
|
rs148007434
|
0.00033
|
NM_006516.4(SLC2A1):c.895G>A (p.Glu299Lys)
|
rs148518827
|
0.00031
|
NM_015488.5(PNKD):c.24G>A (p.Thr8=)
|
rs371342116
|
0.00031
|
NM_001044.5(SLC6A3):c.1118A>G (p.Gln373Arg)
|
rs115282473
|
0.00029
|
NM_001044.5(SLC6A3):c.1390G>A (p.Val464Ile)
|
rs140401978
|
0.00029
|
NM_004606.5(TAF1):c.4754-4A>G
|
rs370696191
|
0.00029
|
NM_015488.5(PNKD):c.236+18C>G
|
rs369983094
|
0.00029
|
NM_001282684.2(KCTD17):c.853C>T (p.Arg285Cys)
|
rs199921196
|
0.00028
|
NM_001044.5(SLC6A3):c.1805A>G (p.Glu602Gly)
|
rs147837176
|
0.00027
|
NM_152296.5(ATP1A3):c.1503C>T (p.Pro501=)
|
rs143904999
|
0.00027
|
NM_001044.5(SLC6A3):c.1767+13A>G
|
rs28363130
|
0.00026
|
NM_001044.5(SLC6A3):c.1857G>C (p.Lys619Asn)
|
rs200712598
|
0.00026
|
NM_003690.5(PRKRA):c.*151A>T
|
rs886055203
|
0.00026
|
NM_015488.5(PNKD):c.237-16514T>A
|
rs776565425
|
0.00026
|
NM_145239.3(PRRT2):c.635A>G (p.Asn212Ser)
|
rs779020826
|
0.00026
|
NM_152296.5(ATP1A3):c.-148T>G
|
rs769525784
|
0.00026
|
NM_152296.5(ATP1A3):c.1192+6C>T
|
rs367771319
|
0.00026
|
NM_152296.5(ATP1A3):c.597C>T (p.His199=)
|
rs139145792
|
0.00026
|
NM_001044.5(SLC6A3):c.1269+12G>A
|
rs367687282
|
0.00025
|
NM_145239.3(PRRT2):c.1013T>C (p.Val338Ala)
|
rs144540943
|
0.00025
|
NM_001044.5(SLC6A3):c.1089C>T (p.Val363=)
|
rs114461544
|
0.00024
|
NM_003690.5(PRKRA):c.66-10G>T
|
rs375307696
|
0.00024
|
NM_015488.5(PNKD):c.165C>T (p.Pro55=)
|
rs201680473
|
0.00024
|
NM_003919.3(SGCE):c.1072C>T (p.Leu358=)
|
rs139062360
|
0.00023
|
NM_152296.5(ATP1A3):c.1193-4C>G
|
rs200111818
|
0.00023
|
NM_001044.5(SLC6A3):c.1143C>T (p.Asp381=)
|
rs8179027
|
0.00022
|
NM_152296.5(ATP1A3):c.7-17G>A
|
rs201253471
|
0.00022
|
NM_001044.5(SLC6A3):c.1032-14T>C
|
rs375742593
|
0.00021
|
NM_003690.5(PRKRA):c.*265A>C
|
rs886055201
|
0.00021
|
NM_152296.5(ATP1A3):c.1695C>T (p.Asp565=)
|
rs375255226
|
0.00021
|
NM_152296.5(ATP1A3):c.756C>T (p.Gly252=)
|
rs150070299
|
0.00021
|
NM_001044.5(SLC6A3):c.1035C>T (p.Asp345=)
|
rs369288905
|
0.00019
|
NM_001044.5(SLC6A3):c.1137C>T (p.Ile379=)
|
rs201605046
|
0.00019
|
NM_001044.5(SLC6A3):c.605C>G (p.Ser202Trp)
|
rs149444784
|
0.00019
|
NM_003919.3(SGCE):c.429G>T (p.Arg143Ser)
|
rs145010266
|
0.00019
|
NM_145239.3(PRRT2):c.225G>A (p.Pro75=)
|
rs199662641
|
0.00019
|
NM_001044.5(SLC6A3):c.1515C>T (p.Ser505=)
|
rs114563841
|
0.00018
|
NM_152296.5(ATP1A3):c.94-16A>C
|
rs782612422
|
0.00018
|
NM_006516.4(SLC2A1):c.972+17T>A
|
rs202140308
|
0.00017
|
NM_015488.5(PNKD):c.323A>G (p.His108Arg)
|
rs142536637
|
0.00017
|
NM_152296.5(ATP1A3):c.2856G>A (p.Thr952=)
|
rs148292376
|
0.00017
|
NM_001044.5(SLC6A3):c.1036G>A (p.Ala346Thr)
|
rs375720650
|
0.00016
|
NM_003919.3(SGCE):c.975G>A (p.Ser325=)
|
rs145040065
|
0.00016
|
NM_006516.4(SLC2A1):c.276-11C>T
|
rs376422395
|
0.00016
|
NM_006516.4(SLC2A1):c.885G>A (p.Thr295=)
|
rs144685583
|
0.00016
|
NM_015488.5(PNKD):c.281G>A (p.Arg94Gln)
|
rs140941237
|
0.00016
|
NM_152296.5(ATP1A3):c.2419-7C>T
|
rs187436315
|
0.00016
|
NM_152296.5(ATP1A3):c.6+3A>G
|
rs369853936
|
0.00016
|
NM_001282684.2(KCTD17):c.777C>T (p.Pro259=)
|
rs548803912
|
0.00015
|
NM_003919.3(SGCE):c.391A>G (p.Ile131Val)
|
rs370609227
|
0.00015
|
NM_006516.4(SLC2A1):c.*971G>A
|
rs185891628
|
0.00015
|
NM_015488.5(PNKD):c.352+19G>A
|
rs768284028
|
0.00015
|
NM_001282684.2(KCTD17):c.894A>T (p.Ala298=)
|
rs758691104
|
0.00014
|
NM_004606.5(TAF1):c.235+3G>A
|
rs368024152
|
0.00014
|
NM_006516.4(SLC2A1):c.138G>C (p.Gln46His)
|
rs149998596
|
0.00014
|
NM_015488.5(PNKD):c.1102C>G (p.Arg368Gly)
|
rs185906233
|
0.00014
|
NM_015488.5(PNKD):c.350A>G (p.Asn117Ser)
|
rs199572198
|
0.00014
|
NM_015488.5(PNKD):c.781+13G>A
|
rs201802667
|
0.00014
|
NM_001044.5(SLC6A3):c.1296C>T (p.Thr432=)
|
rs115254960
|
0.00013
|
NM_001044.5(SLC6A3):c.34T>C (p.Ser12Pro)
|
rs149180162
|
0.00013
|
NM_006516.4(SLC2A1):c.517-18G>A
|
rs372553463
|
0.00013
|
NM_006516.4(SLC2A1):c.764A>C (p.Lys255Thr)
|
rs5811
|
0.00013
|
NM_015488.5(PNKD):c.964C>T (p.Arg322Trp)
|
rs751050132
|
0.00013
|
NM_152296.5(ATP1A3):c.1500C>T (p.Ala500=)
|
rs146606627
|
0.00013
|
NM_152296.5(ATP1A3):c.2493G>A (p.Thr831=)
|
rs374157034
|
0.00013
|
NM_001044.5(SLC6A3):c.653+14G>A
|
rs374067917
|
0.00012
|
NM_001044.5(SLC6A3):c.898G>A (p.Val300Ile)
|
rs145782788
|
0.00012
|
NM_003919.3(SGCE):c.328A>G (p.Ser110Gly)
|
rs370382282
|
0.00012
|
NM_003919.3(SGCE):c.787C>T (p.Arg263Cys)
|
rs199871508
|
0.00012
|
NM_003919.3(SGCE):c.905A>T (p.Lys302Ile)
|
rs762287154
|
0.00012
|
NM_006516.4(SLC2A1):c.*1016A>G
|
rs886046334
|
0.00012
|
NM_015488.5(PNKD):c.*1118T>A
|
rs762512024
|
0.00012
|
NM_015488.5(PNKD):c.959G>A (p.Arg320Gln)
|
rs200815994
|
0.00012
|
NM_001044.5(SLC6A3):c.385G>A (p.Ala129Thr)
|
rs780852886
|
0.00011
|
NM_001044.5(SLC6A3):c.710G>A (p.Arg237Gln)
|
rs6345
|
0.00011
|
NM_003919.3(SGCE):c.138C>T (p.Ser46=)
|
rs116632777
|
0.00011
|
NM_015488.5(PNKD):c.*868T>C
|
rs998136972
|
0.00011
|
NM_015488.5(PNKD):c.1068G>A (p.Pro356=)
|
rs139193832
|
0.00011
|
NM_015488.5(PNKD):c.116G>C (p.Arg39Pro)
|
rs367998906
|
0.00011
|
NM_015488.5(PNKD):c.466-3C>A
|
rs370929830
|
0.00011
|
NM_015488.5(PNKD):c.524+14G>A
|
rs373580030
|
0.00011
|
NM_145239.3(PRRT2):c.879+6C>A
|
rs201887920
|
0.00011
|
NM_152296.5(ATP1A3):c.147T>C (p.Cys49=)
|
rs376960579
|
0.00011
|
NM_152296.5(ATP1A3):c.2115C>T (p.Thr705=)
|
rs371962113
|
0.00011
|
NM_152296.5(ATP1A3):c.2226C>T (p.Asp742=)
|
rs146600566
|
0.00011
|
NM_152296.5(ATP1A3):c.2419-17C>T
|
rs541464159
|
0.00011
|
NM_152296.5(ATP1A3):c.288C>T (p.Ile96=)
|
rs142806181
|
0.00011
|
NM_152296.5(ATP1A3):c.531C>T (p.Val177=)
|
rs141696210
|
0.00011
|
NM_001044.5(SLC6A3):c.792+7C>T
|
rs370881183
|
0.00010
|
NM_001282684.2(KCTD17):c.499G>A (p.Gly167Ser)
|
rs200563649
|
0.00010
|
NM_006516.4(SLC2A1):c.*587A>T
|
rs748209315
|
0.00010
|
NM_006516.4(SLC2A1):c.312C>G (p.Phe104Leu)
|
rs76672402
|
0.00010
|
NM_015488.5(PNKD):c.*826G>T
|
rs772338538
|
0.00010
|
NM_145239.3(PRRT2):c.171C>T (p.Ala57=)
|
rs771487218
|
0.00010
|
NM_152296.5(ATP1A3):c.2489G>A (p.Arg830Gln)
|
rs368371895
|
0.00010
|
NM_152296.5(ATP1A3):c.2559C>T (p.Leu853=)
|
rs369555293
|
0.00010
|
NM_152296.5(ATP1A3):c.2616C>A (p.Asn872Lys)
|
rs782057287
|
0.00010
|
NM_152296.5(ATP1A3):c.93+5G>A
|
rs372694213
|
0.00010
|
NM_001044.5(SLC6A3):c.1641C>G (p.His547Gln)
|
rs140639546
|
0.00009
|
NM_001044.5(SLC6A3):c.1763G>A (p.Arg588Gln)
|
rs376797072
|
0.00009
|
NM_001044.5(SLC6A3):c.1766A>T (p.Glu589Val)
|
rs757597222
|
0.00009
|
NM_001044.5(SLC6A3):c.33G>C (p.Met11Ile)
|
rs143342582
|
0.00009
|
NM_001044.5(SLC6A3):c.792+10G>A
|
rs199702486
|
0.00009
|
NM_001282684.2(KCTD17):c.42G>T (p.Ala14=)
|
rs555901657
|
0.00009
|
NM_003690.5(PRKRA):c.-65C>G
|
rs557426364
|
0.00009
|
NM_003690.5(PRKRA):c.665C>T (p.Pro222Leu)
|
rs121434410
|
0.00009
|
NM_004606.5(TAF1):c.4155G>A (p.Thr1385=)
|
rs202158967
|
0.00009
|
NM_006516.4(SLC2A1):c.*463T>C
|
rs186437621
|
0.00009
|
NM_006516.4(SLC2A1):c.*651G>T
|
rs886046337
|
0.00009
|
NM_006516.4(SLC2A1):c.*784A>G
|
rs886046335
|
0.00009
|
NM_006516.4(SLC2A1):c.-26G>C
|
rs375001117
|
0.00009
|
NM_006516.4(SLC2A1):c.1282C>T (p.Leu428=)
|
rs137868589
|
0.00009
|
NM_006516.4(SLC2A1):c.18+14C>T
|
rs970369883
|
0.00009
|
NM_015488.5(PNKD):c.839G>T (p.Gly280Val)
|
rs766132328
|
0.00009
|
NM_145239.3(PRRT2):c.960G>A (p.Ala320=)
|
rs753833531
|
0.00009
|
NM_152296.5(ATP1A3):c.1131A>G (p.Thr377=)
|
rs143242360
|
0.00009
|
NM_152296.5(ATP1A3):c.1776G>A (p.Ala592=)
|
rs2288507
|
0.00009
|
NM_152296.5(ATP1A3):c.1968C>T (p.His656=)
|
rs142297106
|
0.00009
|
NM_152296.5(ATP1A3):c.2367G>A (p.Pro789=)
|
rs372737275
|
0.00009
|
NM_152296.5(ATP1A3):c.2419-16G>A
|
rs199926456
|
0.00009
|
NM_152296.5(ATP1A3):c.2451C>T (p.Ala817=)
|
rs148392240
|
0.00009
|
NM_152296.5(ATP1A3):c.607-7C>A
|
rs782819736
|
0.00009
|
NM_152296.5(ATP1A3):c.993+9A>T
|
rs376821676
|
0.00009
|
NR_104387.1(TAF1):n.5894C>T
|
rs397509359
|
0.00009
|
NM_001044.5(SLC6A3):c.1600-18C>T
|
rs761610559
|
0.00008
|
NM_001044.5(SLC6A3):c.77C>T (p.Pro26Leu)
|
rs757417973
|
0.00008
|
NM_001282684.2(KCTD17):c.486+5G>A
|
rs201383375
|
0.00008
|
NM_003690.5(PRKRA):c.233C>A (p.Thr78Lys)
|
rs189979808
|
0.00008
|
NM_003919.3(SGCE):c.294T>C (p.Pro98=)
|
rs138616225
|
0.00008
|
NM_006516.4(SLC2A1):c.1395C>T (p.Ser465=)
|
rs75852730
|
0.00008
|
NM_006516.4(SLC2A1):c.987G>A (p.Glu329=)
|
rs201989024
|
0.00008
|
NM_015488.5(PNKD):c.498C>T (p.Val166=)
|
rs376951824
|
0.00008
|
NM_015488.5(PNKD):c.665G>A (p.Arg222Gln)
|
rs777574834
|
0.00008
|
NM_145239.3(PRRT2):c.580G>A (p.Glu194Lys)
|
rs139516010
|
0.00008
|
NM_152296.5(ATP1A3):c.63C>T (p.Asp21=)
|
rs367930558
|
0.00008
|
NM_001044.5(SLC6A3):c.1728G>A (p.Ala576=)
|
rs769456530
|
0.00007
|
NM_001044.5(SLC6A3):c.969C>T (p.Gly323=)
|
rs369950427
|
0.00007
|
NM_003919.3(SGCE):c.1196C>T (p.Pro399Leu)
|
rs17851923
|
0.00007
|
NM_006516.4(SLC2A1):c.*560T>C
|
rs545613558
|
0.00007
|
NM_006516.4(SLC2A1):c.*609G>C
|
rs1020397288
|
0.00007
|
NM_006516.4(SLC2A1):c.258C>T (p.Phe86=)
|
rs147319894
|
0.00007
|
NM_015488.5(PNKD):c.*1725T>C
|
rs149172912
|
0.00007
|
NM_015488.5(PNKD):c.1120G>A (p.Glu374Lys)
|
rs936912635
|
0.00007
|
NM_015488.5(PNKD):c.340C>T (p.Arg114Cys)
|
rs374529489
|
0.00007
|
NM_015488.5(PNKD):c.664C>T (p.Arg222Trp)
|
rs758297049
|
0.00007
|
NM_015488.5(PNKD):c.984+1G>A
|
rs577027430
|
0.00007
|
NM_145239.3(PRRT2):c.655C>T (p.Leu219=)
|
rs1201038361
|
0.00007
|
NM_145239.3(PRRT2):c.880-13G>A
|
rs377384734
|
0.00007
|
NM_152296.5(ATP1A3):c.1086C>T (p.Thr362=)
|
rs186453162
|
0.00007
|
NM_152296.5(ATP1A3):c.1281G>A (p.Gln427=)
|
rs116979196
|
0.00007
|
NM_152296.5(ATP1A3):c.915C>T (p.Tyr305=)
|
rs199711612
|
0.00007
|
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly)
|
rs28904921
|
0.00006
|
NM_000795.4(DRD2):c.460G>A (p.Val154Ile)
|
rs104894220
|
0.00006
|
NM_001044.5(SLC6A3):c.1038G>A (p.Ala346=)
|
rs111362222
|
0.00006
|
NM_001044.5(SLC6A3):c.1446G>A (p.Thr482=)
|
rs750649054
|
0.00006
|
NM_001044.5(SLC6A3):c.149C>T (p.Pro50Leu)
|
rs146798197
|
0.00006
|
NM_001044.5(SLC6A3):c.1767+19C>T
|
rs751182754
|
0.00006
|
NM_001044.5(SLC6A3):c.1839+8C>T
|
rs533644928
|
0.00006
|
NM_001044.5(SLC6A3):c.330G>A (p.Gly110=)
|
rs112801202
|
0.00006
|
NM_001044.5(SLC6A3):c.418+9C>T
|
rs528589234
|
0.00006
|
NM_001282684.2(KCTD17):c.306G>A (p.Leu102=)
|
rs755532238
|
0.00006
|
NM_001282684.2(KCTD17):c.498C>T (p.Ile166=)
|
rs34395802
|
0.00006
|
NM_001282684.2(KCTD17):c.699T>C (p.Asp233=)
|
rs969405373
|
0.00006
|
NM_001282684.2(KCTD17):c.99G>A (p.Thr33=)
|
rs747826376
|
0.00006
|
NM_003690.5(PRKRA):c.235+11A>G
|
rs753131558
|
0.00006
|
NM_003690.5(PRKRA):c.54T>C (p.Ser18=)
|
rs1235471739
|
0.00006
|
NM_003690.5(PRKRA):c.796G>A (p.Ala266Thr)
|
rs148050153
|
0.00006
|
NM_003919.3(SGCE):c.1165G>C (p.Val389Leu)
|
rs374697567
|
0.00006
|
NM_003919.3(SGCE):c.235G>A (p.Glu79Lys)
|
rs375983969
|
0.00006
|
NM_003919.3(SGCE):c.409C>T (p.Arg137Cys)
|
rs557861177
|
0.00006
|
NM_006516.4(SLC2A1):c.*750T>A
|
rs886046336
|
0.00006
|
NM_006516.4(SLC2A1):c.1005C>G (p.Thr335=)
|
rs763664146
|
0.00006
|
NM_006516.4(SLC2A1):c.1016T>C (p.Ile339Thr)
|
rs141619735
|
0.00006
|
NM_006516.4(SLC2A1):c.18+12G>T
|
rs587781171
|
0.00006
|
NM_006516.4(SLC2A1):c.188C>T (p.Thr63Met)
|
rs200828053
|
0.00006
|
NM_006516.4(SLC2A1):c.19-12G>A
|
rs372344816
|
0.00006
|
NM_006516.4(SLC2A1):c.19-5C>T
|
rs376653618
|
0.00006
|
NM_006516.4(SLC2A1):c.343C>T (p.Leu115=)
|
rs539490455
|
0.00006
|
NM_015488.5(PNKD):c.*1141G>A
|
rs577960985
|
0.00006
|
NM_015488.5(PNKD):c.331A>G (p.Thr111Ala)
|
rs202190131
|
0.00006
|
NM_015488.5(PNKD):c.384G>A (p.Ser128=)
|
rs544137720
|
0.00006
|
NM_015488.5(PNKD):c.430G>T (p.Val144Leu)
|
rs764910957
|
0.00006
|
NM_015488.5(PNKD):c.645C>T (p.Ser215=)
|
rs373992679
|
0.00006
|
NM_015488.5(PNKD):c.653G>A (p.Arg218Gln)
|
rs746884706
|
0.00006
|
NM_015488.5(PNKD):c.785G>A (p.Arg262Gln)
|
rs759669801
|
0.00006
|
NM_015488.5(PNKD):c.833T>G (p.Val278Gly)
|
rs1220987446
|
0.00006
|
NM_015488.5(PNKD):c.973C>T (p.Arg325Cys)
|
rs149750691
|
0.00006
|
NM_015488.5(PNKD):c.984G>A (p.Thr328=)
|
rs371356115
|
0.00006
|
NM_145239.3(PRRT2):c.643C>T (p.Pro215Ser)
|
rs374642875
|
0.00006
|
NM_152296.4(ATP1A3):c.-186G>A
|
rs886054478
|
0.00006
|
NM_152296.5(ATP1A3):c.*13C>A
|
rs781878302
|
0.00006
|
NM_152296.5(ATP1A3):c.-64A>G
|
rs373531937
|
0.00006
|
NM_152296.5(ATP1A3):c.1368C>T (p.Ser456=)
|
rs782325595
|
0.00006
|
NM_152296.5(ATP1A3):c.191G>A (p.Arg64Gln)
|
rs201573515
|
0.00006
|
NM_152296.5(ATP1A3):c.1923C>T (p.Pro641=)
|
rs370996990
|
0.00006
|
NM_152296.5(ATP1A3):c.1959C>T (p.Cys653=)
|
rs782105093
|
0.00006
|
NM_152296.5(ATP1A3):c.2139C>G (p.Pro713=)
|
rs141362710
|
0.00006
|
NM_152296.5(ATP1A3):c.2542+11G>A
|
rs78146024
|
0.00006
|
NM_152296.5(ATP1A3):c.2819+10G>A
|
rs782236178
|
0.00006
|
NM_152296.5(ATP1A3):c.2886C>T (p.Pro962=)
|
rs141412861
|
0.00006
|
NM_152296.5(ATP1A3):c.357+9C>G
|
rs782403205
|
0.00006
|
NM_152296.5(ATP1A3):c.55C>T (p.Arg19Cys)
|
rs782229302
|
0.00006
|
NM_152296.5(ATP1A3):c.739G>A (p.Val247Met)
|
rs782227665
|
0.00006
|
NM_152296.5(ATP1A3):c.753G>A (p.Thr251=)
|
rs782459932
|
0.00006
|
NM_001044.5(SLC6A3):c.1269C>T (p.Ala423=)
|
rs200757674
|
0.00005
|
NM_001044.5(SLC6A3):c.822C>T (p.Tyr274=)
|
rs777377892
|
0.00005
|
NM_001044.5(SLC6A3):c.895A>G (p.Ser299Gly)
|
rs571552841
|
0.00005
|
NM_001044.5(SLC6A3):c.928-18C>T
|
rs373449776
|
0.00005
|
NM_001282684.2(KCTD17):c.234C>T (p.Phe78=)
|
rs756682413
|
0.00005
|
NM_003690.5(PRKRA):c.380C>T (p.Pro127Leu)
|
rs75862065
|
0.00005
|
NM_003690.5(PRKRA):c.851G>T (p.Cys284Phe)
|
rs199725025
|
0.00005
|
NM_003919.3(SGCE):c.21G>A (p.Trp7Ter)
|
rs201378067
|
0.00005
|
NM_003919.3(SGCE):c.378A>C (p.Pro126=)
|
rs746942662
|
0.00005
|
NM_004606.5(TAF1):c.4521G>A (p.Ala1507=)
|
rs758753633
|
0.00005
|
NM_006516.4(SLC2A1):c.*368A>C
|
rs946103123
|
0.00005
|
NM_006516.4(SLC2A1):c.*413G>A
|
rs543194486
|
0.00005
|
NM_006516.4(SLC2A1):c.276-9C>T
|
rs529579952
|
0.00005
|
NM_015488.5(PNKD):c.559C>T (p.Arg187Trp)
|
rs375550686
|
0.00005
|
NM_015488.5(PNKD):c.983C>T (p.Thr328Met)
|
rs780464180
|
0.00005
|
NM_145239.3(PRRT2):c.167C>T (p.Ala56Val)
|
rs780909712
|
0.00005
|
NM_145239.3(PRRT2):c.430C>G (p.Pro144Ala)
|
rs150501365
|
0.00005
|
NM_145239.3(PRRT2):c.773G>A (p.Gly258Glu)
|
rs560303559
|
0.00005
|
NM_145239.3(PRRT2):c.974T>C (p.Val325Ala)
|
rs779770451
|
0.00005
|
NM_152296.5(ATP1A3):c.1005G>A (p.Thr335=)
|
rs781976856
|
0.00005
|
NM_152296.5(ATP1A3):c.1437+17G>A
|
rs371469761
|
0.00005
|
NM_152296.5(ATP1A3):c.1924G>A (p.Val642Ile)
|
rs201391210
|
0.00005
|
NM_152296.5(ATP1A3):c.2325G>A (p.Pro775=)
|
rs150943961
|
0.00005
|
NM_152296.5(ATP1A3):c.2689-19C>G
|
rs781881227
|
0.00005
|
NM_152296.5(ATP1A3):c.3014-11T>C
|
rs868980016
|
0.00005
|
NM_152296.5(ATP1A3):c.357+15C>A
|
rs782291161
|
0.00005
|
NM_152296.5(ATP1A3):c.472-13C>T
|
rs557984701
|
0.00005
|
NM_152296.5(ATP1A3):c.786C>T (p.Thr262=)
|
rs74581050
|
0.00005
|
NM_152296.5(ATP1A3):c.858C>T (p.Thr286=)
|
rs368998149
|
0.00005
|
NM_152296.5(ATP1A3):c.994-4C>G
|
rs373698149
|
0.00005
|
NM_000051.4(ATM):c.5763-1050A>G
|
rs774925473
|
0.00004
|
NM_001044.5(SLC6A3):c.1037C>T (p.Ala346Val)
|
rs202173303
|
0.00004
|
NM_001044.5(SLC6A3):c.1157-15C>T
|
rs375416292
|
0.00004
|
NM_001044.5(SLC6A3):c.1269+20C>T
|
rs951684585
|
0.00004
|
NM_001044.5(SLC6A3):c.1364C>T (p.Ala455Val)
|
rs370907238
|
0.00004
|
NM_001044.5(SLC6A3):c.1410C>T (p.Tyr470=)
|
rs777317571
|
0.00004
|
NM_001044.5(SLC6A3):c.1440C>T (p.Ala480=)
|
rs766191360
|
0.00004
|
NM_001044.5(SLC6A3):c.1602C>T (p.Phe534=)
|
rs138475489
|
0.00004
|
NM_001044.5(SLC6A3):c.1829G>A (p.Arg610His)
|
rs200431667
|
0.00004
|
NM_001044.5(SLC6A3):c.1dup (p.Met1fs)
|
rs755504692
|
0.00004
|
NM_001044.5(SLC6A3):c.360C>T (p.Leu120=)
|
rs148447720
|
0.00004
|
NM_001044.5(SLC6A3):c.444C>A (p.Ile148=)
|
rs186229286
|
0.00004
|
NM_001044.5(SLC6A3):c.495C>T (p.His165=)
|
rs1052784707
|
0.00004
|
NM_001044.5(SLC6A3):c.498T>C (p.Tyr166=)
|
rs376593673
|
0.00004
|
NM_001044.5(SLC6A3):c.580C>T (p.Pro194Ser)
|
rs756042082
|
0.00004
|
NM_001044.5(SLC6A3):c.924G>A (p.Ala308=)
|
rs530952208
|
0.00004
|
NM_001282684.2(KCTD17):c.123G>A (p.Thr41=)
|
rs1307842544
|
0.00004
|
NM_003690.5(PRKRA):c.261G>A (p.Ala87=)
|
rs778921785
|
0.00004
|
NM_003690.5(PRKRA):c.65+10C>T
|
rs535076601
|
0.00004
|
NM_003919.3(SGCE):c.1060C>T (p.Pro354Ser)
|
rs983156830
|
0.00004
|
NM_003919.3(SGCE):c.1177G>A (p.Val393Met)
|
rs150797717
|
0.00004
|
NM_003919.3(SGCE):c.142C>T (p.Arg48Trp)
|
rs760964336
|
0.00004
|
NM_003919.3(SGCE):c.234C>T (p.Gly78=)
|
rs768766085
|
0.00004
|
NM_003919.3(SGCE):c.305G>A (p.Arg102Gln)
|
rs753195301
|
0.00004
|
NM_003919.3(SGCE):c.445A>G (p.Asn149Asp)
|
rs780589840
|
0.00004
|
NM_003919.3(SGCE):c.59G>A (p.Arg20Gln)
|
rs759241679
|
0.00004
|
NM_003919.3(SGCE):c.712G>C (p.Glu238Gln)
|
rs200035109
|
0.00004
|
NM_003919.3(SGCE):c.738G>A (p.Leu246=)
|
rs767137229
|
0.00004
|
NM_003919.3(SGCE):c.763G>A (p.Val255Ile)
|
rs759032005
|
0.00004
|
NM_003919.3(SGCE):c.823T>C (p.Leu275=)
|
rs780163710
|
0.00004
|
NM_003919.3(SGCE):c.895G>A (p.Gly299Arg)
|
rs765792098
|
0.00004
|
NM_003919.3(SGCE):c.93C>T (p.Gly31=)
|
rs748581376
|
0.00004
|
NM_006516.4(SLC2A1):c.-129G>T
|
rs936174986
|
0.00004
|
NM_006516.4(SLC2A1):c.-192G>C
|
rs886046342
|
0.00004
|
NM_006516.4(SLC2A1):c.-194G>A
|
rs984267596
|
0.00004
|
NM_006516.4(SLC2A1):c.1034C>T (p.Ala345Val)
|
rs769943554
|
0.00004
|
NM_006516.4(SLC2A1):c.125A>C (p.Glu42Ala)
|
rs748082803
|
0.00004
|
NM_006516.4(SLC2A1):c.1396G>A (p.Gly466Ser)
|
rs138139624
|
0.00004
|
NM_006516.4(SLC2A1):c.1435C>A (p.Pro479Thr)
|
rs749067830
|
0.00004
|
NM_006516.4(SLC2A1):c.180G>A (p.Thr60=)
|
rs780638574
|
0.00004
|
NM_006516.4(SLC2A1):c.276-19C>T
|
rs74945664
|
0.00004
|
NM_006516.4(SLC2A1):c.606C>T (p.Ile202=)
|
rs779779804
|
0.00004
|
NM_006516.4(SLC2A1):c.653G>A (p.Arg218His)
|
rs374080633
|
0.00004
|
NM_006516.4(SLC2A1):c.657C>T (p.Asn219=)
|
rs534113895
|
0.00004
|
NM_006516.4(SLC2A1):c.822C>T (p.Ile274=)
|
rs368242382
|
0.00004
|
NM_006516.4(SLC2A1):c.906G>T (p.Gly302=)
|
rs55693364
|
0.00004
|
NM_015488.5(PNKD):c.1010G>A (p.Arg337His)
|
rs374137801
|
0.00004
|
NM_015488.5(PNKD):c.1094A>T (p.Asp365Val)
|
rs754318977
|
0.00004
|
NM_015488.5(PNKD):c.1103G>A (p.Arg368Gln)
|
rs372191275
|
0.00004
|
NM_015488.5(PNKD):c.16G>A (p.Ala6Thr)
|
rs1023163176
|
0.00004
|
NM_015488.5(PNKD):c.237-16374C>T
|
rs201323830
|
0.00004
|
NM_015488.5(PNKD):c.264C>T (p.Leu88=)
|
rs138241166
|
0.00004
|
NM_015488.5(PNKD):c.301C>T (p.Arg101Trp)
|
rs533033409
|
0.00004
|
NM_015488.5(PNKD):c.492C>T (p.Thr164=)
|
rs775533328
|
0.00004
|
NM_015488.5(PNKD):c.869-5G>A
|
rs375416202
|
0.00004
|
NM_015488.5(PNKD):c.984+11C>T
|
rs779135692
|
0.00004
|
NM_145239.3(PRRT2):c.1013-16C>T
|
rs539524685
|
0.00004
|
NM_145239.3(PRRT2):c.224C>T (p.Pro75Leu)
|
rs147004110
|
0.00004
|
NM_145239.3(PRRT2):c.304G>A (p.Glu102Lys)
|
rs748419907
|
0.00004
|
NM_145239.3(PRRT2):c.352G>A (p.Ala118Thr)
|
rs201636905
|
0.00004
|
NM_145239.3(PRRT2):c.433C>T (p.Arg145Trp)
|
rs574304021
|
0.00004
|
NM_145239.3(PRRT2):c.709G>A (p.Gly237Arg)
|
rs199556853
|
0.00004
|
NM_145239.3(PRRT2):c.719G>A (p.Arg240Gln)
|
rs758246761
|
0.00004
|
NM_145239.3(PRRT2):c.734G>A (p.Arg245His)
|
rs754897123
|
0.00004
|
NM_145239.3(PRRT2):c.961C>T (p.Leu321=)
|
rs756741951
|
0.00004
|
NM_152296.5(ATP1A3):c.1017G>A (p.Lys339=)
|
rs140106872
|
0.00004
|
NM_152296.5(ATP1A3):c.1134C>T (p.Val378=)
|
rs180710845
|
0.00004
|
NM_152296.5(ATP1A3):c.1438-10C>T
|
rs200271372
|
0.00004
|
NM_152296.5(ATP1A3):c.1467C>T (p.Asn489=)
|
rs138797500
|
0.00004
|
NM_152296.5(ATP1A3):c.1527C>T (p.Ser509=)
|
rs199625170
|
0.00004
|
NM_152296.5(ATP1A3):c.1821C>T (p.Thr607=)
|
rs782381694
|
0.00004
|
NM_152296.5(ATP1A3):c.1824C>T (p.Gly608=)
|
rs782288263
|
0.00004
|
NM_152296.5(ATP1A3):c.1884C>T (p.Asn628=)
|
rs144130986
|
0.00004
|
NM_152296.5(ATP1A3):c.1974C>T (p.Thr658=)
|
rs145869619
|
0.00004
|
NM_152296.5(ATP1A3):c.2040C>T (p.Phe680=)
|
rs372836589
|
0.00004
|
NM_152296.5(ATP1A3):c.204C>T (p.Asn68=)
|
rs148043407
|
0.00004
|
NM_152296.5(ATP1A3):c.2094+15C>T
|
rs782378908
|
0.00004
|
NM_152296.5(ATP1A3):c.2094+9C>T
|
rs369771087
|
0.00004
|
NM_152296.5(ATP1A3):c.2190C>T (p.Asp730=)
|
rs202060210
|
0.00004
|
NM_152296.5(ATP1A3):c.2221C>T (p.Leu741=)
|
rs1302739794
|
0.00004
|
NM_152296.5(ATP1A3):c.2439G>A (p.Ala813=)
|
rs189555627
|
0.00004
|
NM_152296.5(ATP1A3):c.243G>A (p.Lys81=)
|
rs782433549
|
0.00004
|
NM_152296.5(ATP1A3):c.2634G>A (p.Leu878=)
|
rs782293282
|
0.00004
|
NM_152296.5(ATP1A3):c.2689-17G>T
|
rs370286197
|
0.00004
|
NM_152296.5(ATP1A3):c.2885C>A (p.Pro962His)
|
rs145179304
|
0.00004
|
NM_152296.5(ATP1A3):c.2895C>T (p.Asp965=)
|
rs782437931
|
0.00004
|
NM_152296.5(ATP1A3):c.472-5C>G
|
rs372041397
|
0.00004
|
NM_152296.5(ATP1A3):c.861C>T (p.Gly287=)
|
rs539729675
|
0.00004
|
NM_152296.5(ATP1A3):c.994-13G>A
|
rs372105495
|
0.00004
|
NM_152296.5(ATP1A3):c.99G>A (p.Glu33=)
|
rs35429923
|
0.00004
|
NM_001044.5(SLC6A3):c.1050C>T (p.Thr350=)
|
rs777700658
|
0.00003
|
NM_001044.5(SLC6A3):c.1067C>T (p.Thr356Met)
|
rs577802449
|
0.00003
|
NM_001044.5(SLC6A3):c.1269+16C>T
|
rs750007484
|
0.00003
|
NM_001044.5(SLC6A3):c.1843C>T (p.Arg615Cys)
|
rs763131939
|
0.00003
|
NM_001044.5(SLC6A3):c.201C>T (p.Ile67=)
|
rs191426052
|
0.00003
|
NM_001044.5(SLC6A3):c.384C>T (p.Ala128=)
|
rs771177632
|
0.00003
|
NM_001044.5(SLC6A3):c.939C>T (p.Asp313=)
|
rs774707412
|
0.00003
|
NM_001282684.2(KCTD17):c.785G>A (p.Gly262Asp)
|
rs756711502
|
0.00003
|
NM_003690.5(PRKRA):c.638G>T (p.Cys213Phe)
|
rs752452731
|
0.00003
|
NM_003690.5(PRKRA):c.654G>A (p.Leu218=)
|
rs763093482
|
0.00003
|
NM_003690.5(PRKRA):c.784+15T>C
|
rs367606024
|
0.00003
|
NM_003690.5(PRKRA):c.85G>A (p.Ala29Thr)
|
rs1293335092
|
0.00003
|
NM_003919.3(SGCE):c.1033G>A (p.Gly345Ser)
|
rs553677309
|
0.00003
|
NM_003919.3(SGCE):c.1036G>A (p.Val346Met)
|
rs533652380
|
0.00003
|
NM_003919.3(SGCE):c.1141G>A (p.Ala381Thr)
|
rs1341048280
|
0.00003
|
NM_003919.3(SGCE):c.1158G>A (p.Thr386=)
|
rs368276611
|
0.00003
|
NM_003919.3(SGCE):c.143G>A (p.Arg48Gln)
|
rs148483382
|
0.00003
|
NM_003919.3(SGCE):c.14G>T (p.Arg5Leu)
|
rs147148588
|
0.00003
|
NM_003919.3(SGCE):c.210A>G (p.Glu70=)
|
rs907043992
|
0.00003
|
NM_003919.3(SGCE):c.279T>C (p.Gly93=)
|
rs756901549
|
0.00003
|
NM_003919.3(SGCE):c.410G>A (p.Arg137His)
|
rs548306335
|
0.00003
|
NM_003919.3(SGCE):c.470C>T (p.Pro157Leu)
|
rs768233445
|
0.00003
|
NM_003919.3(SGCE):c.471G>A (p.Pro157=)
|
rs747531940
|
0.00003
|
NM_003919.3(SGCE):c.662+6C>T
|
rs761449603
|
0.00003
|
NM_003919.3(SGCE):c.692C>T (p.Pro231Leu)
|
rs755996611
|
0.00003
|
NM_003919.3(SGCE):c.764T>C (p.Val255Ala)
|
rs773893939
|
0.00003
|
NM_006516.4(SLC2A1):c.*1149C>A
|
rs779668330
|
0.00003
|
NM_006516.4(SLC2A1):c.*1246G>A
|
rs886046330
|
0.00003
|
NM_006516.4(SLC2A1):c.*1281A>G
|
rs1057515458
|
0.00003
|
NM_006516.4(SLC2A1):c.*597G>A
|
rs886046338
|
0.00003
|
NM_006516.4(SLC2A1):c.313G>A (p.Val105Met)
|
rs577667739
|
0.00003
|
NM_006516.4(SLC2A1):c.339G>A (p.Ser113=)
|
rs755571737
|
0.00003
|
NM_006516.4(SLC2A1):c.624C>G (p.Pro208=)
|
rs778522408
|
0.00003
|
NM_015488.5(PNKD):c.*206C>T
|
rs886055622
|
0.00003
|
NM_015488.5(PNKD):c.1090G>A (p.Asp364Asn)
|
rs766821861
|
0.00003
|
NM_015488.5(PNKD):c.1126C>T (p.Arg376Cys)
|
rs200042352
|
0.00003
|
NM_015488.5(PNKD):c.299C>T (p.Ala100Val)
|
rs374645683
|
0.00003
|
NM_015488.5(PNKD):c.302G>A (p.Arg101Gln)
|
rs368934552
|
0.00003
|
NM_015488.5(PNKD):c.37C>T (p.Arg13Trp)
|
rs886055619
|
0.00003
|
NM_015488.5(PNKD):c.540G>A (p.Gly180=)
|
rs748991526
|
0.00003
|
NM_015488.5(PNKD):c.648G>A (p.Val216=)
|
rs767740808
|
0.00003
|
NM_015488.5(PNKD):c.877T>C (p.Tyr293His)
|
rs368638126
|
0.00003
|
NM_015488.5(PNKD):c.932G>A (p.Arg311Gln)
|
rs61745358
|
0.00003
|
NM_145239.3(PRRT2):c.112C>A (p.Leu38Ile)
|
rs1208143772
|
0.00003
|
NM_145239.3(PRRT2):c.183A>G (p.Ser61=)
|
rs775396962
|
0.00003
|
NM_145239.3(PRRT2):c.236C>T (p.Ser79Leu)
|
rs750974008
|
0.00003
|
NM_145239.3(PRRT2):c.303C>T (p.Pro101=)
|
rs570325174
|
0.00003
|
NM_145239.3(PRRT2):c.309C>T (p.Asp103=)
|
rs772941122
|
0.00003
|
NM_145239.3(PRRT2):c.415G>A (p.Ala139Thr)
|
rs763634807
|
0.00003
|
NM_145239.3(PRRT2):c.432C>T (p.Pro144=)
|
rs749031499
|
0.00003
|
NM_145239.3(PRRT2):c.434G>A (p.Arg145Gln)
|
rs200877676
|
0.00003
|
NM_145239.3(PRRT2):c.603C>G (p.His201Gln)
|
rs543313284
|
0.00003
|
NM_145239.3(PRRT2):c.642C>A (p.Ala214=)
|
rs1237572544
|
0.00003
|
NM_145239.3(PRRT2):c.755C>G (p.Ala252Gly)
|
rs1053144630
|
0.00003
|
NM_145239.3(PRRT2):c.797G>A (p.Arg266Gln)
|
rs765285598
|
0.00003
|
NM_145239.3(PRRT2):c.865G>A (p.Ala289Thr)
|
rs754794125
|
0.00003
|
NM_145239.3(PRRT2):c.931C>T (p.Arg311Trp)
|
rs760521217
|
0.00003
|
NM_145239.3(PRRT2):c.967G>T (p.Gly323Trp)
|
rs757940549
|
0.00003
|
NM_152296.5(ATP1A3):c.*298C>T
|
rs781980860
|
0.00003
|
NM_152296.5(ATP1A3):c.1520G>A (p.Arg507His)
|
rs782370873
|
0.00003
|
NM_152296.5(ATP1A3):c.1623C>T (p.Arg541=)
|
rs370771508
|
0.00003
|
NM_152296.5(ATP1A3):c.1653C>G (p.Pro551=)
|
rs782493144
|
0.00003
|
NM_152296.5(ATP1A3):c.1714A>G (p.Asn572Asp)
|
rs782415633
|
0.00003
|
NM_152296.5(ATP1A3):c.1728G>A (p.Val576=)
|
rs370436157
|
0.00003
|
NM_152296.5(ATP1A3):c.1773C>T (p.Asp591=)
|
rs782220233
|
0.00003
|
NM_152296.5(ATP1A3):c.1806+14T>C
|
rs377372631
|
0.00003
|
NM_152296.5(ATP1A3):c.2004C>T (p.Ile668=)
|
rs782209649
|
0.00003
|
NM_152296.5(ATP1A3):c.2418+18C>T
|
rs369674143
|
0.00003
|
NM_152296.5(ATP1A3):c.2419-6G>A
|
rs180749411
|
0.00003
|
NM_152296.5(ATP1A3):c.2652C>T (p.Thr884=)
|
rs1156548474
|
0.00003
|
NM_152296.5(ATP1A3):c.3013+12C>T
|
rs782424595
|
0.00003
|
NM_152296.5(ATP1A3):c.3014G>A (p.Gly1005Asp)
|
rs1428514255
|
0.00003
|
NM_152296.5(ATP1A3):c.303C>T (p.Cys101=)
|
rs781801187
|
0.00003
|
NM_152296.5(ATP1A3):c.327G>A (p.Ala109=)
|
rs781907306
|
0.00003
|
NM_152296.5(ATP1A3):c.708C>T (p.Ser236=)
|
rs145171914
|
0.00003
|
NM_152296.5(ATP1A3):c.724+8G>A
|
rs781886157
|
0.00003
|
NM_152296.5(ATP1A3):c.994-9G>A
|
rs201175414
|
0.00003
|
NM_001044.5(SLC6A3):c.1087G>A (p.Val363Ile)
|
rs750843353
|
0.00002
|
NM_001044.5(SLC6A3):c.1138G>A (p.Gly380Arg)
|
rs368954324
|
0.00002
|
NM_001044.5(SLC6A3):c.1270-10C>T
|
rs756737267
|
0.00002
|
NM_001044.5(SLC6A3):c.1386C>T (p.Phe462=)
|
rs765211329
|
0.00002
|
NM_001044.5(SLC6A3):c.1499-12C>G
|
rs1048125664
|
0.00002
|
NM_001044.5(SLC6A3):c.151C>T (p.Arg51Trp)
|
rs778617693
|
0.00002
|
NM_001044.5(SLC6A3):c.1644C>T (p.Tyr548=)
|
rs1264236301
|
0.00002
|
NM_001044.5(SLC6A3):c.1663G>A (p.Asp555Asn)
|
rs750854317
|
0.00002
|
NM_001044.5(SLC6A3):c.1736A>G (p.Lys579Arg)
|
rs373070875
|
0.00002
|
NM_001044.5(SLC6A3):c.1838C>T (p.Thr613Met)
|
rs372722904
|
0.00002
|
NM_001044.5(SLC6A3):c.287-16C>A
|
rs752277056
|
0.00002
|
NM_001044.5(SLC6A3):c.42G>T (p.Val14=)
|
rs767919132
|
0.00002
|
NM_001044.5(SLC6A3):c.471C>T (p.Asn157=)
|
rs755940757
|
0.00002
|
NM_001044.5(SLC6A3):c.615C>T (p.Asn205=)
|
rs764540812
|
0.00002
|
NM_001044.5(SLC6A3):c.642C>T (p.Ala214=)
|
rs369766460
|
0.00002
|
NM_001044.5(SLC6A3):c.661G>A (p.Val221Met)
|
rs138948519
|
0.00002
|
NM_001282684.2(KCTD17):c.486+20G>A
|
rs372989339
|
0.00002
|
NM_003690.5(PRKRA):c.335C>G (p.Pro112Arg)
|
rs151157679
|
0.00002
|
NM_003690.5(PRKRA):c.704G>C (p.Ser235Thr)
|
rs756005650
|
0.00002
|
NM_003919.3(SGCE):c.1025G>A (p.Arg342Gln)
|
rs764696852
|
0.00002
|
NM_003919.3(SGCE):c.1027C>T (p.Arg343Trp)
|
rs757796461
|
0.00002
|
NM_003919.3(SGCE):c.1074G>A (p.Leu358=)
|
rs983297904
|
0.00002
|
NM_003919.3(SGCE):c.109+15C>T
|
rs747205304
|
0.00002
|
NM_003919.3(SGCE):c.1310C>T (p.Pro437Leu)
|
rs778866625
|
0.00002
|
NM_003919.3(SGCE):c.139G>A (p.Asp47Asn)
|
rs199787155
|
0.00002
|
NM_003919.3(SGCE):c.421_423dup (p.Thr141dup)
|
rs539327067
|
0.00002
|
NM_003919.3(SGCE):c.555C>T (p.Gly185=)
|
rs768286622
|
0.00002
|
NM_003919.3(SGCE):c.591C>T (p.Asn197=)
|
rs372968907
|
0.00002
|
NM_003919.3(SGCE):c.5A>C (p.Gln2Pro)
|
rs755191122
|
0.00002
|
NM_003919.3(SGCE):c.693G>A (p.Pro231=)
|
rs757206832
|
0.00002
|
NM_003919.3(SGCE):c.716T>C (p.Val239Ala)
|
rs142833106
|
0.00002
|
NM_003919.3(SGCE):c.972C>T (p.Pro324=)
|
rs1490533382
|
0.00002
|
NM_006516.4(SLC2A1):c.*285C>T
|
rs144947295
|
0.00002
|
NM_006516.4(SLC2A1):c.*514G>T
|
rs886046339
|
0.00002
|
NM_006516.4(SLC2A1):c.1001G>A (p.Arg334Gln)
|
rs892715050
|
0.00002
|
NM_006516.4(SLC2A1):c.103G>T (p.Ala35Ser)
|
rs796053245
|
0.00002
|
NM_006516.4(SLC2A1):c.1107C>T (p.Ile369=)
|
rs145962512
|
0.00002
|
NM_006516.4(SLC2A1):c.1278+9C>G
|
rs550156548
|
0.00002
|
NM_006516.4(SLC2A1):c.136C>G (p.Gln46Glu)
|
rs754791604
|
0.00002
|
NM_006516.4(SLC2A1):c.1445T>C (p.Leu482Pro)
|
rs748340730
|
0.00002
|
NM_006516.4(SLC2A1):c.172C>T (p.Pro58Ser)
|
rs765479065
|
0.00002
|
NM_006516.4(SLC2A1):c.322G>A (p.Val108Met)
|
rs74323945
|
0.00002
|
NM_006516.4(SLC2A1):c.495C>T (p.Val165=)
|
rs181115612
|
0.00002
|
NM_006516.4(SLC2A1):c.668G>A (p.Arg223Gln)
|
rs397514564
|
0.00002
|
NM_006516.4(SLC2A1):c.708C>T (p.Asp236=)
|
rs566497194
|
0.00002
|
NM_006516.4(SLC2A1):c.790C>T (p.Arg264Cys)
|
rs766376173
|
0.00002
|
NM_006516.4(SLC2A1):c.798C>T (p.Pro266=)
|
rs201996220
|
0.00002
|
NM_006516.4(SLC2A1):c.903G>A (p.Ala301=)
|
rs776461617
|
0.00002
|
NM_006516.4(SLC2A1):c.946G>A (p.Val316Ile)
|
rs920394412
|
0.00002
|
NM_006516.4(SLC2A1):c.967G>A (p.Val323Met)
|
rs749426767
|
0.00002
|
NM_015488.4(PNKD):c.-79C>A
|
rs886055618
|
0.00002
|
NM_015488.5(PNKD):c.*1216G>A
|
rs999439159
|
0.00002
|
NM_015488.5(PNKD):c.*253C>T
|
rs1456301565
|
0.00002
|
NM_015488.5(PNKD):c.1047G>A (p.Ala349=)
|
rs575546377
|
0.00002
|
NM_015488.5(PNKD):c.1116G>A (p.Leu372=)
|
rs1237935847
|
0.00002
|
NM_015488.5(PNKD):c.1129C>T (p.Arg377Trp)
|
rs377569724
|
0.00002
|
NM_015488.5(PNKD):c.1130G>A (p.Arg377Gln)
|
rs148141539
|
0.00002
|
NM_015488.5(PNKD):c.129C>T (p.Ser43=)
|
rs199629886
|
0.00002
|
NM_015488.5(PNKD):c.237-10C>T
|
rs201618527
|
0.00002
|
NM_015488.5(PNKD):c.246G>A (p.Leu82=)
|
rs145583175
|
0.00002
|
NM_015488.5(PNKD):c.341G>A (p.Arg114His)
|
rs781140528
|
0.00002
|
NM_015488.5(PNKD):c.357G>A (p.Val119=)
|
rs1303377436
|
0.00002
|
NM_015488.5(PNKD):c.409G>A (p.Asp137Asn)
|
rs139792709
|
0.00002
|
NM_015488.5(PNKD):c.454C>T (p.Arg152Trp)
|
rs756863425
|
0.00002
|
NM_015488.5(PNKD):c.557G>A (p.Arg186Gln)
|
rs143162613
|
0.00002
|
NM_015488.5(PNKD):c.566G>A (p.Arg189Gln)
|
rs199987826
|
0.00002
|
NM_015488.5(PNKD):c.597C>T (p.Asp199=)
|
rs139122042
|
0.00002
|
NM_015488.5(PNKD):c.673G>A (p.Ala225Thr)
|
rs1459728761
|
0.00002
|
NM_015488.5(PNKD):c.698A>G (p.His233Arg)
|
rs994484237
|
0.00002
|
NM_015488.5(PNKD):c.868+17C>A
|
rs373858533
|
0.00002
|
NM_015488.5(PNKD):c.887A>G (p.Glu296Gly)
|
rs202211738
|
0.00002
|
NM_015488.5(PNKD):c.970G>T (p.Glu324Ter)
|
rs781505065
|
0.00002
|
NM_015488.5(PNKD):c.984+12G>A
|
rs546037398
|
0.00002
|
NM_145239.3(PRRT2):c.1012+20A>G
|
rs1421740540
|
0.00002
|
NM_145239.3(PRRT2):c.1020G>A (p.Lys340=)
|
rs794727658
|
0.00002
|
NM_145239.3(PRRT2):c.115G>A (p.Ala39Thr)
|
rs1263878099
|
0.00002
|
NM_145239.3(PRRT2):c.168G>A (p.Ala56=)
|
rs749595059
|
0.00002
|
NM_145239.3(PRRT2):c.179A>C (p.Asp60Ala)
|
rs772163627
|
0.00002
|
NM_145239.3(PRRT2):c.55A>C (p.Lys19Gln)
|
rs775000504
|
0.00002
|
NM_145239.3(PRRT2):c.599C>G (p.Pro200Arg)
|
rs764829321
|
0.00002
|
NM_145239.3(PRRT2):c.624C>T (p.Ser208=)
|
rs757448392
|
0.00002
|
NM_145239.3(PRRT2):c.651A>G (p.Arg217=)
|
rs1437924015
|
0.00002
|
NM_145239.3(PRRT2):c.880-10C>T
|
rs577833615
|
0.00002
|
NM_145239.3(PRRT2):c.907G>A (p.Val303Met)
|
rs774683543
|
0.00002
|
NM_145239.3(PRRT2):c.921G>C (p.Gln307His)
|
rs376602453
|
0.00002
|
NM_145239.3(PRRT2):c.997G>A (p.Val333Ile)
|
rs749851660
|
0.00002
|
NM_152296.5(ATP1A3):c.1176C>T (p.Thr392=)
|
rs1353417724
|
0.00002
|
NM_152296.5(ATP1A3):c.1192+15C>T
|
rs782209602
|
0.00002
|
NM_152296.5(ATP1A3):c.1192+3G>A
|
rs374542368
|
0.00002
|
NM_152296.5(ATP1A3):c.1215G>A (p.Ser405=)
|
rs374534881
|
0.00002
|
NM_152296.5(ATP1A3):c.1242C>T (p.Ile414=)
|
rs1309536843
|
0.00002
|
NM_152296.5(ATP1A3):c.1296G>T (p.Val432=)
|
rs781928217
|
0.00002
|
NM_152296.5(ATP1A3):c.156T>C (p.Gly52=)
|
rs1213410717
|
0.00002
|
NM_152296.5(ATP1A3):c.1605C>T (p.Leu535=)
|
rs148097195
|
0.00002
|
NM_152296.5(ATP1A3):c.1807-19T>C
|
rs782302598
|
0.00002
|
NM_152296.5(ATP1A3):c.1910G>A (p.Arg637Gln)
|
rs1555861967
|
0.00002
|
NM_152296.5(ATP1A3):c.1995C>T (p.Ser665=)
|
rs374107131
|
0.00002
|
NM_152296.5(ATP1A3):c.207A>T (p.Ala69=)
|
rs200616931
|
0.00002
|
NM_152296.5(ATP1A3):c.2154C>T (p.Ala718=)
|
rs782463652
|
0.00002
|
NM_152296.5(ATP1A3):c.2178C>T (p.Ile726=)
|
rs782806766
|
0.00002
|
NM_152296.5(ATP1A3):c.2277C>T (p.Phe759=)
|
rs782305663
|
0.00002
|
NM_152296.5(ATP1A3):c.2418+3G>A
|
rs782778060
|
0.00002
|
NM_152296.5(ATP1A3):c.2457C>T (p.Ser819=)
|
rs374697524
|
0.00002
|
NM_152296.5(ATP1A3):c.2492C>T (p.Thr831Met)
|
rs782674903
|
0.00002
|
NM_152296.5(ATP1A3):c.2500T>C (p.Leu834=)
|
rs782648382
|
0.00002
|
NM_152296.5(ATP1A3):c.251G>A (p.Arg84Gln)
|
rs782194114
|
0.00002
|
NM_152296.5(ATP1A3):c.2592A>T (p.Ala864=)
|
rs879984755
|
0.00002
|
NM_152296.5(ATP1A3):c.2676C>T (p.Tyr892=)
|
rs782625641
|
0.00002
|
NM_152296.5(ATP1A3):c.2689-11C>T
|
rs782509039
|
0.00002
|
NM_152296.5(ATP1A3):c.2819+12G>A
|
rs782653272
|
0.00002
|
NM_152296.5(ATP1A3):c.2819+3G>A
|
rs782555113
|
0.00002
|
NM_152296.5(ATP1A3):c.2896G>A (p.Val966Met)
|
rs782665893
|
0.00002
|
NM_152296.5(ATP1A3):c.2907C>T (p.Arg969=)
|
rs782611500
|
0.00002
|
NM_152296.5(ATP1A3):c.2973C>T (p.Tyr991=)
|
rs372919447
|
0.00002
|
NM_152296.5(ATP1A3):c.3011G>T (p.Gly1004Val)
|
rs782204932
|
0.00002
|
NM_152296.5(ATP1A3):c.54G>A (p.Glu18=)
|
rs541121307
|
0.00002
|
NM_152296.5(ATP1A3):c.657C>T (p.Pro219=)
|
rs181074193
|
0.00002
|
NM_152296.5(ATP1A3):c.669C>T (p.His223=)
|
rs201584925
|
0.00002
|
NM_152296.5(ATP1A3):c.675C>T (p.Asn225=)
|
rs1226907239
|
0.00002
|
NM_152296.5(ATP1A3):c.7-18C>T
|
rs782562097
|
0.00002
|
NM_152296.5(ATP1A3):c.729G>A (p.Thr243=)
|
rs374578592
|
0.00002
|
NM_152296.5(ATP1A3):c.741G>C (p.Val247=)
|
rs767234141
|
0.00002
|
NM_152296.5(ATP1A3):c.759C>T (p.Asp253=)
|
rs369131791
|
0.00002
|
NM_152296.5(ATP1A3):c.852C>T (p.Leu284=)
|
rs781983476
|
0.00002
|
NM_152296.5(ATP1A3):c.897C>T (p.Leu299=)
|
rs1485886227
|
0.00002
|
NM_152296.5(ATP1A3):c.904A>G (p.Ile302Val)
|
rs782326264
|
0.00002
|
NM_001044.5(SLC6A3):c.1081G>A (p.Gly361Ser)
|
rs766875221
|
0.00001
|
NM_001044.5(SLC6A3):c.1110C>T (p.Tyr370=)
|
rs146814731
|
0.00001
|
NM_001044.5(SLC6A3):c.1184C>T (p.Pro395Leu)
|
rs267607069
|
0.00001
|
NM_001044.5(SLC6A3):c.1185G>A (p.Pro395=)
|
rs372175437
|
0.00001
|
NM_001044.5(SLC6A3):c.1200G>A (p.Thr400=)
|
rs199564835
|
0.00001
|
NM_001044.5(SLC6A3):c.1269+1G>A
|
rs431905504
|
0.00001
|
NM_001044.5(SLC6A3):c.129C>T (p.Thr43=)
|
rs1179801580
|
0.00001
|
NM_001044.5(SLC6A3):c.1335T>G (p.Arg445=)
|
rs762754512
|
0.00001
|
NM_001044.5(SLC6A3):c.1350C>T (p.Leu450=)
|
rs1373372460
|
0.00001
|
NM_001044.5(SLC6A3):c.1398+4C>T
|
rs567904721
|
0.00001
|
NM_001044.5(SLC6A3):c.1411G>A (p.Val471Ile)
|
rs75916702
|
0.00001
|
NM_001044.5(SLC6A3):c.1479C>T (p.Ile493=)
|
rs764518683
|
0.00001
|
NM_001044.5(SLC6A3):c.1499-14C>T
|
rs774641284
|
0.00001
|
NM_001044.5(SLC6A3):c.152G>A (p.Arg51Gln)
|
rs774827862
|
0.00001
|
NM_001044.5(SLC6A3):c.1544G>A (p.Arg515Gln)
|
rs1236294203
|
0.00001
|
NM_001044.5(SLC6A3):c.1561C>T (p.Arg521Trp)
|
rs431905516
|
0.00001
|
NM_001044.5(SLC6A3):c.1599+13G>A
|
rs763612604
|
0.00001
|
NM_001044.5(SLC6A3):c.1603G>A (p.Val535Met)
|
rs553219765
|
0.00001
|
NM_001044.5(SLC6A3):c.163G>A (p.Val55Met)
|
rs751986313
|
0.00001
|
NM_001044.5(SLC6A3):c.1771C>T (p.Leu591=)
|
rs376015219
|
0.00001
|
NM_001044.5(SLC6A3):c.1783A>G (p.Ile595Val)
|
rs758010586
|
0.00001
|
NM_001044.5(SLC6A3):c.1825G>A (p.Val609Met)
|
rs1176423145
|
0.00001
|
NM_001044.5(SLC6A3):c.1844G>A (p.Arg615His)
|
rs750470875
|
0.00001
|
NM_001044.5(SLC6A3):c.216C>T (p.Ser72=)
|
rs373050350
|
0.00001
|
NM_001044.5(SLC6A3):c.285C>T (p.Gly95=)
|
rs201707183
|
0.00001
|
NM_001044.5(SLC6A3):c.375G>A (p.Arg125=)
|
rs772708278
|
0.00001
|
NM_001044.5(SLC6A3):c.40G>A (p.Val14Met)
|
rs190367530
|
0.00001
|
NM_001044.5(SLC6A3):c.419-6C>T
|
rs540824168
|
0.00001
|
NM_001044.5(SLC6A3):c.431C>T (p.Thr144Met)
|
rs746715018
|
0.00001
|
NM_001044.5(SLC6A3):c.448C>G (p.Leu150Val)
|
rs778416596
|
0.00001
|
NM_001044.5(SLC6A3):c.450G>A (p.Leu150=)
|
rs757203667
|
0.00001
|
NM_001044.5(SLC6A3):c.472G>A (p.Val158Ile)
|
rs543317006
|
0.00001
|
NM_001044.5(SLC6A3):c.48C>A (p.Ala16=)
|
rs762569986
|
0.00001
|
NM_001044.5(SLC6A3):c.569C>T (p.Ser190Leu)
|
rs1483254325
|
0.00001
|
NM_001044.5(SLC6A3):c.574G>A (p.Ala192Thr)
|
rs200132776
|
0.00001
|
NM_001044.5(SLC6A3):c.594T>G (p.Ser198Arg)
|
rs780048733
|
0.00001
|
NM_001044.5(SLC6A3):c.625G>A (p.Gly209Arg)
|
rs372788698
|
0.00001
|
NM_001044.5(SLC6A3):c.656G>A (p.Arg219His)
|
rs753109365
|
0.00001
|
NM_001044.5(SLC6A3):c.707C>T (p.Pro236Leu)
|
rs760467074
|
0.00001
|
NM_001044.5(SLC6A3):c.732G>C (p.Leu244=)
|
rs771007893
|
0.00001
|
NM_001044.5(SLC6A3):c.742A>G (p.Ile248Val)
|
rs1365255948
|
0.00001
|
NM_001044.5(SLC6A3):c.82G>C (p.Glu28Gln)
|
rs866199902
|
0.00001
|
NM_001044.5(SLC6A3):c.911G>A (p.Arg304Gln)
|
rs748308614
|
0.00001
|
NM_001044.5(SLC6A3):c.915C>A (p.Leu305=)
|
rs200732142
|
0.00001
|
NM_001044.5(SLC6A3):c.918C>T (p.Cys306=)
|
rs746199611
|
0.00001
|
NM_001044.5(SLC6A3):c.935T>C (p.Ile312Thr)
|
rs1756287215
|
0.00001
|
NM_001282684.2(KCTD17):c.-10G>A
|
rs1924496959
|
0.00001
|
NM_001282684.2(KCTD17):c.17G>A (p.Gly6Glu)
|
rs1158242201
|
0.00001
|
NM_001282684.2(KCTD17):c.255C>G (p.Leu85=)
|
rs147970401
|
0.00001
|
NM_001282684.2(KCTD17):c.299G>C (p.Gly100Ala)
|
rs750023360
|
0.00001
|
NM_001282684.2(KCTD17):c.41C>T (p.Ala14Val)
|
rs1300974634
|
0.00001
|
NM_001282684.2(KCTD17):c.444G>A (p.Thr148=)
|
rs750621399
|
0.00001
|
NM_001282684.2(KCTD17):c.522C>T (p.Ser174=)
|
rs577803443
|
0.00001
|
NM_001282684.2(KCTD17):c.569G>C (p.Ser190Thr)
|
rs144682183
|
0.00001
|
NM_001282684.2(KCTD17):c.688G>T (p.Val230Leu)
|
rs1258843342
|
0.00001
|
NM_001282684.2(KCTD17):c.854G>A (p.Arg285His)
|
rs765037421
|
0.00001
|
NM_001282684.2(KCTD17):c.856C>G (p.Pro286Ala)
|
rs371676360
|
0.00001
|
NM_001282684.2(KCTD17):c.875+14C>T
|
rs754430753
|
0.00001
|
NM_001282684.2(KCTD17):c.93G>A (p.Gly31=)
|
rs956007175
|
0.00001
|
NM_003690.5(PRKRA):c.-117C>T
|
rs886055204
|
0.00001
|
NM_003690.5(PRKRA):c.-141C>A
|
rs1395280729
|
0.00001
|
NM_003690.5(PRKRA):c.397-3T>C
|
rs200249113
|
0.00001
|
NM_003690.5(PRKRA):c.397-6T>G
|
rs1031316165
|
0.00001
|
NM_003690.5(PRKRA):c.40G>A (p.Glu14Lys)
|
rs933550231
|
0.00001
|
NM_003690.5(PRKRA):c.611C>G (p.Thr204Arg)
|
rs1351253817
|
0.00001
|
NM_003690.5(PRKRA):c.766A>G (p.Ile256Val)
|
rs769913085
|
0.00001
|
NM_003690.5(PRKRA):c.77T>A (p.Met26Lys)
|
rs755656753
|
0.00001
|
NM_003690.5(PRKRA):c.792G>C (p.Leu264=)
|
rs750650286
|
0.00001
|
NM_003690.5(PRKRA):c.800A>G (p.Asn267Ser)
|
rs557879457
|
0.00001
|
NM_003690.5(PRKRA):c.80T>C (p.Ile27Thr)
|
rs780703241
|
0.00001
|
NM_003690.5(PRKRA):c.902A>G (p.Asn301Ser)
|
rs778511975
|
0.00001
|
NM_003919.3(SGCE):c.1015A>G (p.Met339Val)
|
rs866020566
|
0.00001
|
NM_003919.3(SGCE):c.1028G>A (p.Arg343Gln)
|
rs755083075
|
0.00001
|
NM_003919.3(SGCE):c.1038-4C>T
|
rs745484720
|
0.00001
|
NM_003919.3(SGCE):c.1038-7T>C
|
rs1158265768
|
0.00001
|
NM_003919.3(SGCE):c.1051A>G (p.Met351Val)
|
rs1206683317
|
0.00001
|
NM_003919.3(SGCE):c.1054C>A (p.Gln352Lys)
|
rs1562803158
|
0.00001
|
NM_003919.3(SGCE):c.1063G>C (p.Asp355His)
|
rs1798915911
|
0.00001
|
NM_003919.3(SGCE):c.1064+16C>A
|
rs951428613
|
0.00001
|
NM_003919.3(SGCE):c.1064+5G>C
|
rs767951166
|
0.00001
|
NM_003919.3(SGCE):c.1065-2A>G
|
rs368043832
|
0.00001
|
NM_003919.3(SGCE):c.1065-3T>C
|
rs965437968
|
0.00001
|
NM_003919.3(SGCE):c.109+17C>A
|
rs1471421199
|
0.00001
|
NM_003919.3(SGCE):c.110-9T>C
|
rs781152122
|
0.00001
|
NM_003919.3(SGCE):c.1109A>G (p.Glu370Gly)
|
rs781699232
|
0.00001
|
NM_003919.3(SGCE):c.1114C>T (p.Arg372Ter)
|
rs121908492
|
0.00001
|
NM_003919.3(SGCE):c.1115G>A (p.Arg372Gln)
|
rs373904456
|
0.00001
|
NM_003919.3(SGCE):c.1176T>C (p.Pro392=)
|
rs769125810
|
0.00001
|
NM_003919.3(SGCE):c.11C>T (p.Pro4Leu)
|
rs372207991
|
0.00001
|
NM_003919.3(SGCE):c.1237T>C (p.Leu413=)
|
rs147387740
|
0.00001
|
NM_003919.3(SGCE):c.1247C>T (p.Thr416Met)
|
rs560154922
|
0.00001
|
NM_003919.3(SGCE):c.1253+15A>G
|
rs1262368056
|
0.00001
|
NM_003919.3(SGCE):c.1275G>C (p.Gln425His)
|
rs762720842
|
0.00001
|
NM_003919.3(SGCE):c.1285C>G (p.Gln429Glu)
|
rs371568101
|
0.00001
|
NM_003919.3(SGCE):c.135C>T (p.His45=)
|
rs1394843820
|
0.00001
|
NM_003919.3(SGCE):c.13C>G (p.Arg5Gly)
|
rs966640985
|
0.00001
|
NM_003919.3(SGCE):c.147T>G (p.Asn49Lys)
|
rs772230342
|
0.00001
|
NM_003919.3(SGCE):c.194A>T (p.Glu65Val)
|
rs1804379561
|
0.00001
|
NM_003919.3(SGCE):c.19T>C (p.Trp7Arg)
|
rs1271444866
|
0.00001
|
NM_003919.3(SGCE):c.220T>C (p.Tyr74His)
|
rs1804372933
|
0.00001
|
NM_003919.3(SGCE):c.232+4T>C
|
rs372244157
|
0.00001
|
NM_003919.3(SGCE):c.241A>G (p.Ser81Gly)
|
rs758164053
|
0.00001
|
NM_003919.3(SGCE):c.24G>C (p.Glu8Asp)
|
rs1808633312
|
0.00001
|
NM_003919.3(SGCE):c.283C>T (p.Pro95Ser)
|
rs1187045400
|
0.00001
|
NM_003919.3(SGCE):c.290G>A (p.Arg97Gln)
|
rs11548285
|
0.00001
|
NM_003919.3(SGCE):c.304C>T (p.Arg102Ter)
|
rs121908490
|
0.00001
|
NM_003919.3(SGCE):c.351C>T (p.Ser117=)
|
rs1804066636
|
0.00001
|
NM_003919.3(SGCE):c.358G>A (p.Ala120Thr)
|
rs1234121565
|
0.00001
|
NM_003919.3(SGCE):c.45G>A (p.Trp15Ter)
|
rs1295669429
|
0.00001
|
NM_003919.3(SGCE):c.463+19T>G
|
rs759488852
|
0.00001
|
NM_003919.3(SGCE):c.500A>G (p.Lys167Arg)
|
rs779127500
|
0.00001
|
NM_003919.3(SGCE):c.547T>C (p.Phe183Leu)
|
rs1003818215
|
0.00001
|
NM_003919.3(SGCE):c.556G>A (p.Ala186Thr)
|
rs746585235
|
0.00001
|
NM_003919.3(SGCE):c.584G>A (p.Arg195His)
|
rs746331571
|
0.00001
|
NM_003919.3(SGCE):c.597A>G (p.Ile199Met)
|
rs777920643
|
0.00001
|
NM_003919.3(SGCE):c.617A>G (p.Asp206Gly)
|
rs727504150
|
0.00001
|
NM_003919.3(SGCE):c.618C>T (p.Asp206=)
|
rs1196762234
|
0.00001
|
NM_003919.3(SGCE):c.656A>T (p.Lys219Met)
|
rs1802319616
|
0.00001
|
NM_003919.3(SGCE):c.664G>A (p.Val222Ile)
|
rs754956483
|
0.00001
|
NM_003919.3(SGCE):c.704G>C (p.Cys235Ser)
|
rs958186178
|
0.00001
|
NM_003919.3(SGCE):c.711A>G (p.Arg237=)
|
rs1193322554
|
0.00001
|
NM_003919.3(SGCE):c.771_772del (p.Thr257_Cys258insTer)
|
rs794727794
|
0.00001
|
NM_003919.3(SGCE):c.77G>A (p.Ser26Asn)
|
rs773531358
|
0.00001
|
NM_003919.3(SGCE):c.799T>A (p.Tyr267Asn)
|
rs781326840
|
0.00001
|
NM_003919.3(SGCE):c.850A>G (p.Thr284Ala)
|
rs986900959
|
0.00001
|
NM_003919.3(SGCE):c.856C>G (p.Gln286Glu)
|
rs775468466
|
0.00001
|
NM_003919.3(SGCE):c.864G>A (p.Val288=)
|
rs772144979
|
0.00001
|
NM_003919.3(SGCE):c.879G>A (p.Gly293=)
|
rs781005887
|
0.00001
|
NM_003919.3(SGCE):c.884T>C (p.Leu295Ser)
|
rs142079200
|
0.00001
|
NM_003919.3(SGCE):c.892G>A (p.Gly298Ser)
|
rs757835571
|
0.00001
|
NM_003919.3(SGCE):c.909C>T (p.Pro303=)
|
rs764483578
|
0.00001
|
NM_003919.3(SGCE):c.945G>A (p.Thr315=)
|
rs539333988
|
0.00001
|
NM_003919.3(SGCE):c.94A>G (p.Thr32Ala)
|
rs955348597
|
0.00001
|
NM_003919.3(SGCE):c.960A>C (p.Thr320=)
|
rs774546647
|
0.00001
|
NM_003919.3(SGCE):c.967G>A (p.Val323Met)
|
rs147550814
|
0.00001
|
NM_003919.3(SGCE):c.96A>G (p.Thr32=)
|
rs1034414453
|
0.00001
|
NM_003919.3(SGCE):c.974C>T (p.Ser325Leu)
|
rs559353446
|
0.00001
|
NM_003919.3(SGCE):c.9G>A (p.Leu3=)
|
rs751698983
|
0.00001
|
NM_004984.4(KIF5A):c.2767C>T (p.Arg923Trp)
|
rs1231571339
|
0.00001
|
NM_006516.4(SLC2A1):c.*107G>A
|
rs1643432524
|
0.00001
|
NM_006516.4(SLC2A1):c.*1205C>T
|
rs886046331
|
0.00001
|
NM_006516.4(SLC2A1):c.*1321T>A
|
rs1222650517
|
0.00001
|
NM_006516.4(SLC2A1):c.*775A>G
|
rs779010320
|
0.00001
|
NM_006516.4(SLC2A1):c.1059C>T (p.Ile353=)
|
rs372092107
|
0.00001
|
NM_006516.4(SLC2A1):c.1060G>A (p.Ala354Thr)
|
rs780529723
|
0.00001
|
NM_006516.4(SLC2A1):c.1062G>A (p.Ala354=)
|
rs748983257
|
0.00001
|
NM_006516.4(SLC2A1):c.1069C>T (p.Leu357=)
|
rs755679518
|
0.00001
|
NM_006516.4(SLC2A1):c.1134C>T (p.Phe378=)
|
rs758184335
|
0.00001
|
NM_006516.4(SLC2A1):c.1152C>T (p.Gly384=)
|
rs750237005
|
0.00001
|
NM_006516.4(SLC2A1):c.1171G>A (p.Val391Met)
|
rs764168088
|
0.00001
|
NM_006516.4(SLC2A1):c.123G>A (p.Glu41=)
|
rs769414573
|
0.00001
|
NM_006516.4(SLC2A1):c.1297G>A (p.Val433Ile)
|
rs200819771
|
0.00001
|
NM_006516.4(SLC2A1):c.1407G>C (p.Gln469His)
|
rs201748668
|
0.00001
|
NM_006516.4(SLC2A1):c.1418G>A (p.Ser473Asn)
|
rs774241047
|
0.00001
|
NM_006516.4(SLC2A1):c.152G>A (p.Arg51His)
|
rs201815571
|
0.00001
|
NM_006516.4(SLC2A1):c.189G>A (p.Thr63=)
|
rs766043826
|
0.00001
|
NM_006516.4(SLC2A1):c.192C>G (p.Leu64=)
|
rs762583668
|
0.00001
|
NM_006516.4(SLC2A1):c.266G>A (p.Arg89His)
|
rs370031715
|
0.00001
|
NM_006516.4(SLC2A1):c.277C>T (p.Arg93Trp)
|
rs267607061
|
0.00001
|
NM_006516.4(SLC2A1):c.318C>T (p.Ser106=)
|
rs760599149
|
0.00001
|
NM_006516.4(SLC2A1):c.31C>T (p.Arg11Cys)
|
rs1333609390
|
0.00001
|
NM_006516.4(SLC2A1):c.332G>T (p.Gly111Val)
|
rs1399284513
|
0.00001
|
NM_006516.4(SLC2A1):c.338C>T (p.Ser113Leu)
|
rs774348625
|
0.00001
|
NM_006516.4(SLC2A1):c.374G>C (p.Gly125Ala)
|
rs781521534
|
0.00001
|
NM_006516.4(SLC2A1):c.392T>C (p.Val131Ala)
|
rs987202561
|
0.00001
|
NM_006516.4(SLC2A1):c.492C>T (p.Ile164=)
|
rs759617721
|
0.00001
|
NM_006516.4(SLC2A1):c.511G>A (p.Ala171Thr)
|
rs1017082606
|
0.00001
|
NM_006516.4(SLC2A1):c.601T>G (p.Cys201Gly)
|
rs1050933017
|
0.00001
|
NM_006516.4(SLC2A1):c.625G>A (p.Glu209Lys)
|
rs1387203768
|
0.00001
|
NM_006516.4(SLC2A1):c.679+5G>A
|
rs771386274
|
0.00001
|
NM_006516.4(SLC2A1):c.680-10G>T
|
rs587784394
|
0.00001
|
NM_006516.4(SLC2A1):c.680-16C>T
|
rs752942175
|
0.00001
|
NM_006516.4(SLC2A1):c.696C>T (p.Arg232=)
|
rs770293853
|
0.00001
|
NM_006516.4(SLC2A1):c.697G>A (p.Gly233Arg)
|
rs375853334
|
0.00001
|
NM_006516.4(SLC2A1):c.787T>C (p.Phe263Leu)
|
rs1302959508
|
0.00001
|
NM_006516.4(SLC2A1):c.907G>T (p.Val303Leu)
|
rs1205631854
|
0.00001
|
NM_006516.4(SLC2A1):c.939C>T (p.Ser313=)
|
rs775408842
|
0.00001
|
NM_006516.4(SLC2A1):c.953C>T (p.Thr318Met)
|
rs746091725
|
0.00001
|
NM_006516.4(SLC2A1):c.957C>A (p.Ala319=)
|
rs1643460439
|
0.00001
|
NM_006516.4(SLC2A1):c.991G>A (p.Ala331Thr)
|
rs1040371265
|
0.00001
|
NM_015488.5(PNKD):c.*1476A>G
|
rs886055623
|
0.00001
|
NM_015488.5(PNKD):c.*1569C>T
|
rs1694830978
|
0.00001
|
NM_015488.5(PNKD):c.*311G>T
|
rs535683095
|
0.00001
|
NM_015488.5(PNKD):c.*33C>T
|
rs766072633
|
0.00001
|
NM_015488.5(PNKD):c.*838C>T
|
rs560187472
|
0.00001
|
NM_015488.5(PNKD):c.*982C>T
|
rs140903787
|
0.00001
|
NM_015488.5(PNKD):c.1006G>T (p.Glu336Ter)
|
rs754136722
|
0.00001
|
NM_015488.5(PNKD):c.1067C>T (p.Pro356Leu)
|
rs1553516179
|
0.00001
|
NM_015488.5(PNKD):c.1073C>T (p.Pro358Leu)
|
rs1161443837
|
0.00001
|
NM_015488.5(PNKD):c.1074G>A (p.Pro358=)
|
rs148953301
|
0.00001
|
NM_015488.5(PNKD):c.108C>T (p.Asn36=)
|
rs1454822881
|
0.00001
|
NM_015488.5(PNKD):c.1105G>T (p.Ala369Ser)
|
rs1233192096
|
0.00001
|
NM_015488.5(PNKD):c.1112T>C (p.Leu371Pro)
|
rs777859269
|
0.00001
|
NM_015488.5(PNKD):c.1127G>A (p.Arg376His)
|
rs781473009
|
0.00001
|
NM_015488.5(PNKD):c.1146C>G (p.His382Gln)
|
rs1157053840
|
0.00001
|
NM_015488.5(PNKD):c.1149G>T (p.Lys383Asn)
|
rs760423147
|
0.00001
|
NM_015488.5(PNKD):c.1153A>G (p.Lys385Glu)
|
rs1299480252
|
0.00001
|
NM_015488.5(PNKD):c.139C>T (p.Pro47Ser)
|
rs999745118
|
0.00001
|
NM_015488.5(PNKD):c.142G>A (p.Glu48Lys)
|
rs1318681160
|
0.00001
|
NM_015488.5(PNKD):c.14T>G (p.Val5Gly)
|
rs1574614834
|
0.00001
|
NM_015488.5(PNKD):c.150G>A (p.Lys50=)
|
rs371649118
|
0.00001
|
NM_015488.5(PNKD):c.173C>T (p.Pro58Leu)
|
rs376689739
|
0.00001
|
NM_015488.5(PNKD):c.189T>C (p.Ile63=)
|
rs146100906
|
0.00001
|
NM_015488.5(PNKD):c.204C>T (p.Gly68=)
|
rs765261684
|
0.00001
|
NM_015488.5(PNKD):c.253C>T (p.Arg85Cys)
|
rs769375770
|
0.00001
|
NM_015488.5(PNKD):c.280C>T (p.Arg94Ter)
|
rs754138242
|
0.00001
|
NM_015488.5(PNKD):c.307C>T (p.Arg103Cys)
|
rs1157911601
|
0.00001
|
NM_015488.5(PNKD):c.308G>A (p.Arg103His)
|
rs768336954
|
0.00001
|
NM_015488.5(PNKD):c.326C>T (p.Ser109Leu)
|
rs985467569
|
0.00001
|
NM_015488.5(PNKD):c.370A>G (p.Ile124Val)
|
rs909331529
|
0.00001
|
NM_015488.5(PNKD):c.383C>T (p.Ser128Leu)
|
rs200782799
|
0.00001
|
NM_015488.5(PNKD):c.391T>C (p.Tyr131His)
|
rs1353463061
|
0.00001
|
NM_015488.5(PNKD):c.39G>C (p.Arg13=)
|
rs1391955842
|
0.00001
|
NM_015488.5(PNKD):c.404T>C (p.Ile135Thr)
|
rs1292612483
|
0.00001
|
NM_015488.5(PNKD):c.419C>T (p.Ala140Val)
|
rs766237012
|
0.00001
|
NM_015488.5(PNKD):c.431T>G (p.Val144Gly)
|
rs533028105
|
0.00001
|
NM_015488.5(PNKD):c.466-4G>A
|
rs1383461623
|
0.00001
|
NM_015488.5(PNKD):c.466-9C>T
|
rs765454285
|
0.00001
|
NM_015488.5(PNKD):c.476A>T (p.Glu159Val)
|
rs758928375
|
0.00001
|
NM_015488.5(PNKD):c.499G>A (p.Ala167Thr)
|
rs1219443955
|
0.00001
|
NM_015488.5(PNKD):c.524+18T>C
|
rs747704832
|
0.00001
|
NM_015488.5(PNKD):c.525-10T>C
|
rs1339930032
|
0.00001
|
NM_015488.5(PNKD):c.533G>A (p.Ser178Asn)
|
rs147885219
|
0.00001
|
NM_015488.5(PNKD):c.543C>T (p.Asn181=)
|
rs761712009
|
0.00001
|
NM_015488.5(PNKD):c.544C>T (p.Arg182Cys)
|
rs1401462536
|
0.00001
|
NM_015488.5(PNKD):c.551T>C (p.Leu184Pro)
|
rs1243303171
|
0.00001
|
NM_015488.5(PNKD):c.574C>T (p.Arg192Trp)
|
rs758791360
|
0.00001
|
NM_015488.5(PNKD):c.579G>T (p.Val193=)
|
rs1378240041
|
0.00001
|
NM_015488.5(PNKD):c.583G>A (p.Gly195Arg)
|
rs554148467
|
0.00001
|
NM_015488.5(PNKD):c.618-16C>T
|
rs778946483
|
0.00001
|
NM_015488.5(PNKD):c.618-9G>A
|
rs531697897
|
0.00001
|
NM_015488.5(PNKD):c.618T>A (p.His206Gln)
|
rs776176020
|
0.00001
|
NM_015488.5(PNKD):c.61C>T (p.Leu21Phe)
|
rs758101708
|
0.00001
|
NM_015488.5(PNKD):c.639G>T (p.Val213=)
|
rs764570137
|
0.00001
|
NM_015488.5(PNKD):c.646G>A (p.Val216Met)
|
rs771841680
|
0.00001
|
NM_015488.5(PNKD):c.65G>A (p.Arg22Gln)
|
rs878855015
|
0.00001
|
NM_015488.5(PNKD):c.67+15C>A
|
rs746524295
|
0.00001
|
NM_015488.5(PNKD):c.679C>G (p.Pro227Ala)
|
rs1360064508
|
0.00001
|
NM_015488.5(PNKD):c.67G>A (p.Gly23Arg)
|
rs901028645
|
0.00001
|
NM_015488.5(PNKD):c.68-7T>C
|
rs1317927434
|
0.00001
|
NM_015488.5(PNKD):c.691C>A (p.Gln231Lys)
|
rs781010423
|
0.00001
|
NM_015488.5(PNKD):c.69G>A (p.Gly23=)
|
rs761897018
|
0.00001
|
NM_015488.5(PNKD):c.708C>A (p.Tyr236Ter)
|
rs1025922436
|
0.00001
|
NM_015488.5(PNKD):c.754G>T (p.Gly252Trp)
|
rs1166017790
|
0.00001
|
NM_015488.5(PNKD):c.781+5G>C
|
rs757255934
|
0.00001
|
NM_015488.5(PNKD):c.782-19C>T
|
rs779635681
|
0.00001
|
NM_015488.5(PNKD):c.782-7C>G
|
rs773884627
|
0.00001
|
NM_015488.5(PNKD):c.784C>T (p.Arg262Trp)
|
rs777091882
|
0.00001
|
NM_015488.5(PNKD):c.83C>G (p.Ala28Gly)
|
rs767828489
|
0.00001
|
NM_015488.5(PNKD):c.854C>A (p.Thr285Asn)
|
rs754573542
|
0.00001
|
NM_015488.5(PNKD):c.873T>C (p.His291=)
|
rs1383953923
|
0.00001
|
NM_015488.5(PNKD):c.915G>C (p.Glu305Asp)
|
rs201068431
|
0.00001
|
NM_015488.5(PNKD):c.918C>T (p.Pro306=)
|
rs780334841
|
0.00001
|
NM_015488.5(PNKD):c.931C>T (p.Arg311Trp)
|
rs761896240
|
0.00001
|
NM_015488.5(PNKD):c.955C>T (p.Gln319Ter)
|
rs765048900
|
0.00001
|
NM_015488.5(PNKD):c.958C>T (p.Arg320Trp)
|
rs1009710207
|
0.00001
|
NM_015488.5(PNKD):c.965G>A (p.Arg322Gln)
|
rs756826546
|
0.00001
|
NM_015488.5(PNKD):c.974G>A (p.Arg325His)
|
rs756621298
|
0.00001
|
NM_015488.5(PNKD):c.97G>C (p.Ala33Pro)
|
rs121434513
|
0.00001
|
NM_015488.5(PNKD):c.985-9C>T
|
rs568589204
|
0.00001
|
NM_015488.5(PNKD):c.998T>G (p.Leu333Arg)
|
rs1005386085
|
0.00001
|
NM_145239.3(PRRT2):c.1011C>T (p.Gly337=)
|
rs745970212
|
0.00001
|
NM_145239.3(PRRT2):c.1016A>G (p.Tyr339Cys)
|
rs1596895035
|
0.00001
|
NM_145239.3(PRRT2):c.108G>C (p.Gln36His)
|
rs764412207
|
0.00001
|
NM_145239.3(PRRT2):c.125C>T (p.Pro42Leu)
|
rs1166053009
|
0.00001
|
NM_145239.3(PRRT2):c.144G>A (p.Pro48=)
|
rs1192918667
|
0.00001
|
NM_145239.3(PRRT2):c.14G>C (p.Ser5Thr)
|
rs745742339
|
0.00001
|
NM_145239.3(PRRT2):c.192G>A (p.Lys64=)
|
rs1422649070
|
0.00001
|
NM_145239.3(PRRT2):c.19G>A (p.Glu7Lys)
|
rs1215479164
|
0.00001
|
NM_145239.3(PRRT2):c.201G>A (p.Leu67=)
|
rs1416186042
|
0.00001
|
NM_145239.3(PRRT2):c.232G>C (p.Ala78Pro)
|
rs1239520299
|
0.00001
|
NM_145239.3(PRRT2):c.272C>T (p.Pro91Leu)
|
rs1299020662
|
0.00001
|
NM_145239.3(PRRT2):c.31A>T (p.Met11Leu)
|
rs746699261
|
0.00001
|
NM_145239.3(PRRT2):c.324_325del (p.Ser110fs)
|
rs886042013
|
0.00001
|
NM_145239.3(PRRT2):c.32T>C (p.Met11Thr)
|
rs796052942
|
0.00001
|
NM_145239.3(PRRT2):c.347A>T (p.Lys116Ile)
|
rs201468618
|
0.00001
|
NM_145239.3(PRRT2):c.357T>G (p.Thr119=)
|
rs137942866
|
0.00001
|
NM_145239.3(PRRT2):c.368G>A (p.Gly123Glu)
|
rs758798693
|
0.00001
|
NM_145239.3(PRRT2):c.381G>A (p.Glu127=)
|
rs747609927
|
0.00001
|
NM_145239.3(PRRT2):c.431C>T (p.Pro144Leu)
|
rs1317648011
|
0.00001
|
NM_145239.3(PRRT2):c.446A>C (p.Gln149Pro)
|
rs1183608934
|
0.00001
|
NM_145239.3(PRRT2):c.455C>A (p.Pro152His)
|
rs760278435
|
0.00001
|
NM_145239.3(PRRT2):c.455C>G (p.Pro152Arg)
|
rs760278435
|
0.00001
|
NM_145239.3(PRRT2):c.464C>G (p.Ala155Gly)
|
rs1053329743
|
0.00001
|
NM_145239.3(PRRT2):c.465C>T (p.Ala155=)
|
rs753596889
|
0.00001
|
NM_145239.3(PRRT2):c.46G>A (p.Glu16Lys)
|
rs777959783
|
0.00001
|
NM_145239.3(PRRT2):c.472C>T (p.Pro158Ser)
|
rs766816688
|
0.00001
|
NM_145239.3(PRRT2):c.483T>C (p.Pro161=)
|
rs751980660
|
0.00001
|
NM_145239.3(PRRT2):c.485C>T (p.Thr162Ile)
|
rs755440222
|
0.00001
|
NM_145239.3(PRRT2):c.490G>A (p.Glu164Lys)
|
rs752707110
|
0.00001
|
NM_145239.3(PRRT2):c.493G>A (p.Asp165Asn)
|
rs1319381076
|
0.00001
|
NM_145239.3(PRRT2):c.522T>G (p.Ser174Arg)
|
rs777955072
|
0.00001
|
NM_145239.3(PRRT2):c.528G>A (p.Gly176=)
|
rs749569594
|
0.00001
|
NM_145239.3(PRRT2):c.547G>C (p.Ala183Pro)
|
rs770599131
|
0.00001
|
NM_145239.3(PRRT2):c.641C>G (p.Ala214Gly)
|
rs1299324384
|
0.00001
|
NM_145239.3(PRRT2):c.648C>G (p.Pro216=)
|
rs772805935
|
0.00001
|
NM_145239.3(PRRT2):c.650G>A (p.Arg217Gln)
|
rs75497546
|
0.00001
|
NM_145239.3(PRRT2):c.66C>T (p.Gly22=)
|
rs775756146
|
0.00001
|
NM_145239.3(PRRT2):c.674A>C (p.Glu225Ala)
|
rs1057518890
|
0.00001
|
NM_145239.3(PRRT2):c.679C>G (p.Arg227Gly)
|
rs370732306
|
0.00001
|
NM_145239.3(PRRT2):c.680G>A (p.Arg227Gln)
|
rs200849527
|
0.00001
|
NM_145239.3(PRRT2):c.698G>A (p.Ser233Asn)
|
rs757291225
|
0.00001
|
NM_145239.3(PRRT2):c.708A>G (p.Pro236=)
|
rs186826225
|
0.00001
|
NM_145239.3(PRRT2):c.731G>A (p.Ser244Asn)
|
rs1451315262
|
0.00001
|
NM_145239.3(PRRT2):c.753G>A (p.Leu251=)
|
rs770596922
|
0.00001
|
NM_145239.3(PRRT2):c.796C>T (p.Arg266Trp)
|
rs387907128
|
0.00001
|
NM_145239.3(PRRT2):c.808A>G (p.Ile270Val)
|
rs1383421303
|
0.00001
|
NM_145239.3(PRRT2):c.834C>T (p.Cys278=)
|
rs758654999
|
0.00001
|
NM_145239.3(PRRT2):c.855C>T (p.Ile285=)
|
rs1379925566
|
0.00001
|
NM_145239.3(PRRT2):c.856G>A (p.Val286Met)
|
rs751344101
|
0.00001
|
NM_145239.3(PRRT2):c.85G>A (p.Glu29Lys)
|
rs1555502574
|
0.00001
|
NM_145239.3(PRRT2):c.866C>T (p.Ala289Val)
|
rs1446585759
|
0.00001
|
NM_145239.3(PRRT2):c.879+10A>G
|
rs755614436
|
0.00001
|
NM_145239.3(PRRT2):c.879+8C>T
|
rs748085126
|
0.00001
|
NM_145239.3(PRRT2):c.880-11C>T
|
rs769037377
|
0.00001
|
NM_145239.3(PRRT2):c.880-34G>A
|
rs1239450803
|
0.00001
|
NM_145239.3(PRRT2):c.883C>T (p.Arg295Trp)
|
rs200185554
|
0.00001
|
NM_145239.3(PRRT2):c.912C>T (p.Asp304=)
|
rs759633234
|
0.00001
|
NM_145239.3(PRRT2):c.913G>A (p.Gly305Arg)
|
rs767799831
|
0.00001
|
NM_145239.3(PRRT2):c.923G>A (p.Arg308His)
|
rs989894169
|
0.00001
|
NM_145239.3(PRRT2):c.936A>T (p.Val312=)
|
rs1057520864
|
0.00001
|
NM_145239.3(PRRT2):c.955G>T (p.Val319Leu)
|
rs945627261
|
0.00001
|
NM_145239.3(PRRT2):c.959C>T (p.Ala320Val)
|
rs1301400509
|
0.00001
|
NM_145239.3(PRRT2):c.966G>T (p.Val322=)
|
rs749980796
|
0.00001
|
NM_145239.3(PRRT2):c.990C>T (p.Ala330=)
|
rs1322978278
|
0.00001
|
NM_145239.3(PRRT2):c.996C>T (p.Cys332=)
|
rs778400762
|
0.00001
|
NM_152296.5(ATP1A3):c.1027C>T (p.Arg343Trp)
|
rs782423325
|
0.00001
|
NM_152296.5(ATP1A3):c.1051C>T (p.Leu351=)
|
rs782341271
|
0.00001
|
NM_152296.5(ATP1A3):c.1080G>A (p.Thr360=)
|
rs370511776
|
0.00001
|
NM_152296.5(ATP1A3):c.1110C>G (p.Thr370=)
|
rs1555863662
|
0.00001
|
NM_152296.5(ATP1A3):c.1164C>T (p.His388=)
|
rs201446077
|
0.00001
|
NM_152296.5(ATP1A3):c.1193-5C>T
|
rs782633348
|
0.00001
|
NM_152296.5(ATP1A3):c.1197C>T (p.Thr399=)
|
rs781903799
|
0.00001
|
NM_152296.5(ATP1A3):c.1206C>T (p.Asp402=)
|
rs572012327
|
0.00001
|
NM_152296.5(ATP1A3):c.1218C>T (p.His406=)
|
rs1238469762
|
0.00001
|
NM_152296.5(ATP1A3):c.1258C>T (p.Arg420Cys)
|
rs1318364500
|
0.00001
|
NM_152296.5(ATP1A3):c.1261G>A (p.Ala421Thr)
|
rs782154735
|
0.00001
|
NM_152296.5(ATP1A3):c.128G>A (p.Arg43Gln)
|
rs782453913
|
0.00001
|
NM_152296.5(ATP1A3):c.1303-15C>A
|
rs782749835
|
0.00001
|
NM_152296.5(ATP1A3):c.1312G>A (p.Ala438Thr)
|
rs782711218
|
0.00001
|
NM_152296.5(ATP1A3):c.1333G>T (p.Ala445Ser)
|
rs1555863376
|
0.00001
|
NM_152296.5(ATP1A3):c.1344G>A (p.Lys448=)
|
rs149547406
|
0.00001
|
NM_152296.5(ATP1A3):c.1350C>T (p.Ile450=)
|
rs559103129
|
0.00001
|
NM_152296.5(ATP1A3):c.1388G>A (p.Arg463His)
|
rs782499746
|
0.00001
|
NM_152296.5(ATP1A3):c.1437+16C>T
|
rs369870482
|
0.00001
|
NM_152296.5(ATP1A3):c.1455C>T (p.Thr485=)
|
rs372153087
|
0.00001
|
NM_152296.5(ATP1A3):c.1472A>G (p.Asn491Ser)
|
rs782775696
|
0.00001
|
NM_152296.5(ATP1A3):c.1474C>G (p.Arg492Gly)
|
rs1254049182
|
0.00001
|
NM_152296.5(ATP1A3):c.1519C>T (p.Arg507Cys)
|
rs749776123
|
0.00001
|
NM_152296.5(ATP1A3):c.153+7C>T
|
rs782082118
|
0.00001
|
NM_152296.5(ATP1A3):c.154-20G>T
|
rs782526131
|
0.00001
|
NM_152296.5(ATP1A3):c.1563C>A (p.Asp521Glu)
|
rs368551273
|
0.00001
|
NM_152296.5(ATP1A3):c.1631-12C>T
|
rs1555862173
|
0.00001
|
NM_152296.5(ATP1A3):c.1654G>C (p.Glu552Gln)
|
rs367904817
|
0.00001
|
NM_152296.5(ATP1A3):c.165C>T (p.His55=)
|
rs781881410
|
0.00001
|
NM_152296.5(ATP1A3):c.1683C>T (p.Phe561=)
|
rs781866390
|
0.00001
|
NM_152296.5(ATP1A3):c.1698G>A (p.Val566=)
|
rs2075193265
|
0.00001
|
NM_152296.5(ATP1A3):c.1705A>G (p.Thr569Ala)
|
rs1555862136
|
0.00001
|
NM_152296.5(ATP1A3):c.1707C>A (p.Thr569=)
|
rs782081809
|
0.00001
|
NM_152296.5(ATP1A3):c.1710G>A (p.Thr570=)
|
rs781840505
|
0.00001
|
NM_152296.5(ATP1A3):c.1746C>T (p.Ile582=)
|
rs781992944
|
0.00001
|
NM_152296.5(ATP1A3):c.1758G>C (p.Arg586=)
|
rs977103188
|
0.00001
|
NM_152296.5(ATP1A3):c.1794C>T (p.Ser598=)
|
rs782409824
|
0.00001
|
NM_152296.5(ATP1A3):c.1806+10G>A
|
rs782300402
|
0.00001
|
NM_152296.5(ATP1A3):c.1806+12G>A
|
rs1555862070
|
0.00001
|
NM_152296.5(ATP1A3):c.1807-14A>C
|
rs1477588682
|
0.00001
|
NM_152296.5(ATP1A3):c.1839G>A (p.Thr613=)
|
rs376852509
|
0.00001
|
NM_152296.5(ATP1A3):c.1905C>T (p.Ala635=)
|
rs781822752
|
0.00001
|
NM_152296.5(ATP1A3):c.1906G>A (p.Ala636Thr)
|
rs782744167
|
0.00001
|
NM_152296.5(ATP1A3):c.190C>T (p.Arg64Trp)
|
rs1203339638
|
0.00001
|
NM_152296.5(ATP1A3):c.1930C>G (p.Gln644Glu)
|
rs1555861946
|
0.00001
|
NM_152296.5(ATP1A3):c.1942C>T (p.Arg648Trp)
|
rs1555861935
|
0.00001
|
NM_152296.5(ATP1A3):c.1944-19C>A
|
rs1555861379
|
0.00001
|
NM_152296.5(ATP1A3):c.1973C>T (p.Thr658Ile)
|
rs1241113172
|
0.00001
|
NM_152296.5(ATP1A3):c.2007C>T (p.Asp669=)
|
rs782626986
|
0.00001
|
NM_152296.5(ATP1A3):c.2009A>G (p.Glu670Gly)
|
rs2075172328
|
0.00001
|
NM_152296.5(ATP1A3):c.201T>C (p.Pro67=)
|
rs782752541
|
0.00001
|
NM_152296.5(ATP1A3):c.2025C>T (p.His675=)
|
rs1394039204
|
0.00001
|
NM_152296.5(ATP1A3):c.2028C>T (p.Thr676=)
|
rs782556831
|
0.00001
|
NM_152296.5(ATP1A3):c.2052C>T (p.Ser684=)
|
rs1461401586
|
0.00001
|
NM_152296.5(ATP1A3):c.2095-6C>T
|
rs1555860861
|
0.00001
|
NM_152296.5(ATP1A3):c.2130C>T (p.Asn710=)
|
rs1394454178
|
0.00001
|
NM_152296.5(ATP1A3):c.2171T>C (p.Met724Thr)
|
rs1329568831
|
0.00001
|
NM_152296.5(ATP1A3):c.219G>A (p.Pro73=)
|
rs567997976
|
0.00001
|
NM_152296.5(ATP1A3):c.2244C>T (p.Ile748=)
|
rs143307687
|
0.00001
|
NM_152296.5(ATP1A3):c.2263+9G>A
|
rs372897787
|
0.00001
|
NM_152296.5(ATP1A3):c.2307C>T (p.Thr769=)
|
rs886054473
|
0.00001
|
NM_152296.5(ATP1A3):c.2343G>T (p.Leu781=)
|
rs1216939281
|
0.00001
|
NM_152296.5(ATP1A3):c.2400C>T (p.Ile800=)
|
rs782552524
|
0.00001
|
NM_152296.5(ATP1A3):c.2418+9T>A
|
rs950336124
|
0.00001
|
NM_152296.5(ATP1A3):c.2442C>T (p.Tyr814=)
|
rs367659803
|
0.00001
|
NM_152296.5(ATP1A3):c.2445G>A (p.Glu815=)
|
rs781915542
|
0.00001
|
NM_152296.5(ATP1A3):c.2523C>T (p.Ser841=)
|
rs1236093021
|
0.00001
|
NM_152296.5(ATP1A3):c.2532C>T (p.Tyr844=)
|
rs782485793
|
0.00001
|
NM_152296.5(ATP1A3):c.2553G>A (p.Gln851=)
|
rs782151853
|
0.00001
|
NM_152296.5(ATP1A3):c.2688+11C>A
|
rs782430886
|
0.00001
|
NM_152296.5(ATP1A3):c.2694C>T (p.Tyr898=)
|
rs1036805125
|
0.00001
|
NM_152296.5(ATP1A3):c.2703G>A (p.Arg901=)
|
rs1347375704
|
0.00001
|
NM_152296.5(ATP1A3):c.2730G>A (p.Thr910=)
|
rs377758618
|
0.00001
|
NM_152296.5(ATP1A3):c.2748C>T (p.Ile916=)
|
rs782390447
|
0.00001
|
NM_152296.5(ATP1A3):c.274A>G (p.Ile92Val)
|
rs933392084
|
0.00001
|
NM_152296.5(ATP1A3):c.2790G>A (p.Arg930=)
|
rs782317175
|
0.00001
|
NM_152296.5(ATP1A3):c.2819+9C>T
|
rs976302465
|
0.00001
|
NM_152296.5(ATP1A3):c.2859C>T (p.Ala953=)
|
rs1555858949
|
0.00001
|
NM_152296.5(ATP1A3):c.2887G>A (p.Gly963Ser)
|
rs200582951
|
0.00001
|
NM_152296.5(ATP1A3):c.2937C>T (p.Phe979=)
|
rs965301142
|
0.00001
|
NM_152296.5(ATP1A3):c.2943C>T (p.Ala981=)
|
rs1439299124
|
0.00001
|
NM_152296.5(ATP1A3):c.2946C>T (p.Phe982=)
|
rs182309368
|
0.00001
|
NM_152296.5(ATP1A3):c.2968G>A (p.Val990Ile)
|
rs781786336
|
0.00001
|
NM_152296.5(ATP1A3):c.2997G>T (p.Leu999=)
|
rs1172518925
|
0.00001
|
NM_152296.5(ATP1A3):c.3006C>T (p.Asn1002=)
|
rs782086452
|
0.00001
|
NM_152296.5(ATP1A3):c.3013+10C>G
|
rs782023293
|
0.00001
|
NM_152296.5(ATP1A3):c.3014-5T>C
|
rs782325963
|
0.00001
|
NM_152296.5(ATP1A3):c.315C>T (p.Tyr105=)
|
rs782717865
|
0.00001
|
NM_152296.5(ATP1A3):c.333C>T (p.Thr111=)
|
rs782779392
|
0.00001
|
NM_152296.5(ATP1A3):c.339C>T (p.Asp113=)
|
rs1555865976
|
0.00001
|
NM_152296.5(ATP1A3):c.358-6C>T
|
rs1395827738
|
0.00001
|
NM_152296.5(ATP1A3):c.363C>T (p.Tyr121=)
|
rs373180830
|
0.00001
|
NM_152296.5(ATP1A3):c.376C>T (p.Leu126=)
|
rs1167271636
|
0.00001
|
NM_152296.5(ATP1A3):c.381G>A (p.Ala127=)
|
rs782313754
|
0.00001
|
NM_152296.5(ATP1A3):c.384C>G (p.Ala128=)
|
rs782662538
|
0.00001
|
NM_152296.5(ATP1A3):c.399T>A (p.Thr133=)
|
rs782428386
|
0.00001
|
NM_152296.5(ATP1A3):c.468C>G (p.Pro156=)
|
rs1035085048
|
0.00001
|
NM_152296.5(ATP1A3):c.472-10C>T
|
rs1318002472
|
0.00001
|
NM_152296.5(ATP1A3):c.513C>T (p.Asn171=)
|
rs782560151
|
0.00001
|
NM_152296.5(ATP1A3):c.598G>A (p.Gly200Ser)
|
rs1555865238
|
0.00001
|
NM_152296.5(ATP1A3):c.59G>A (p.Arg20Gln)
|
rs949169436
|
0.00001
|
NM_152296.5(ATP1A3):c.6+17C>A
|
rs782567963
|
0.00001
|
NM_152296.5(ATP1A3):c.607-10C>G
|
rs1250683183
|
0.00001
|
NM_152296.5(ATP1A3):c.630C>T (p.Gly210=)
|
rs199906040
|
0.00001
|
NM_152296.5(ATP1A3):c.636C>T (p.Ser212=)
|
rs146476476
|
0.00001
|
NM_152296.5(ATP1A3):c.658G>A (p.Asp220Asn)
|
rs1396898460
|
0.00001
|
NM_152296.5(ATP1A3):c.672C>T (p.Asp224=)
|
rs954153137
|
0.00001
|
NM_152296.5(ATP1A3):c.678C>G (p.Pro226=)
|
rs782427535
|
0.00001
|
NM_152296.5(ATP1A3):c.69T>C (p.Asp23=)
|
rs1178257393
|
0.00001
|
NM_152296.5(ATP1A3):c.7-12G>A
|
rs369150627
|
0.00001
|
NM_152296.5(ATP1A3):c.7-2A>C
|
rs1555866356
|
0.00001
|
NM_152296.5(ATP1A3):c.804G>A (p.Glu268=)
|
rs781831563
|
0.00001
|
NM_152296.5(ATP1A3):c.822C>T (p.Ile274=)
|
rs558011104
|
0.00001
|
NM_152296.5(ATP1A3):c.879T>C (p.Gly293=)
|
rs782184674
|
0.00001
|
NM_152296.5(ATP1A3):c.891C>T (p.Phe297=)
|
rs921400561
|
0.00001
|
NM_152296.5(ATP1A3):c.93+10G>A
|
rs377023306
|
0.00001
|
NM_152296.5(ATP1A3):c.93+9C>T
|
rs369684003
|
0.00001
|
NM_152296.5(ATP1A3):c.936C>A (p.Ile312=)
|
rs782140994
|
0.00001
|
NM_152296.5(ATP1A3):c.945C>T (p.Ile315=)
|
rs782718686
|
0.00001
|
NM_152296.5(ATP1A3):c.994-10C>T
|
rs781783591
|
0.00001
|
GRCh37/hg19 16p11.2(chr16:29495011-30206548)
|
|
|
GRCh37/hg19 7q21.3(chr7:93516132-95668733)
|
|
|
NC_000002.11:g.(?_179296804)_(179456251_?)dup
|
|
|
NC_000002.11:g.(?_218999525)_(220435954_?)dup
|
|
|
NC_000002.11:g.(?_219135259)_(219209704_?)dup
|
|
|
NC_000002.11:g.(?_219204486)_(219209704_?)del
|
|
|
NC_000002.11:g.(?_219204486)_(219209704_?)dup
|
|
|
NC_000002.11:g.(?_219204486)_(219209724_?)dup
|
|
|
NC_000002.12:g.(?_218339763)_(218345001_?)del
|
|
|
NC_000005.9:g.(?_1253823)_(1448148_?)del
|
|
|
NC_000005.9:g.(?_1394830)_(1394893_?)dup
|
|
|
NC_000005.9:g.(?_218471)_(1895829_?)del
|
|
|
NC_000007.13:g.(?_94214811)_(94252729_?)dup
|
|
|
NC_000007.13:g.(?_94228081)_(94232770_?)del
|
|
|
NC_000007.13:g.(?_94232582)_(94232784_?)del
|
|
|
NC_000007.13:g.(?_94248050)_(94248288_?)del
|
|
|
NC_000007.13:g.(?_94248050)_(94252729_?)del
|
|
|
NC_000007.13:g.(?_94252617)_(94252729_?)del
|
|
|
NC_000007.13:g.(?_94252627)_(94252719_?)del
|
|
|
NC_000007.13:g.(?_94257494)_(94285410_?)del
|
|
|
NC_000007.13:g.(?_94285282)_(94285410_?)del
|
|
|
NC_000007.13:g.(?_94285282)_(94285430_?)dup
|
|
|
NC_000007.14:g.(?_94395012)_(94656118_?)del
|
|
|
NC_000007.14:g.(?_94598775)_(94603452_?)del
|
|
|
NC_000007.14:g.(?_94628182)_(94628379_?)del
|
|
|
NC_000010.10:g.129942146_132848717del
|
|
|
NC_000016.10:g.(?_29813035)_(29814658_?)del
|
|
|
NC_000016.10:g.(?_29813045)_(29814648_?)del
|
|
|
NC_000016.10:g.(?_29813055)_(29904965_?)del
|
|
|
NC_000016.10:g.(?_29824300)_(29826034_?)del
|
|
|
NC_000016.9:g.(?_29802081)_(30199917_?)del
|
|
|
NC_000016.9:g.(?_29802081)_(30199917_?)dup
|
|
|
NC_000016.9:g.(?_29802081)_(30200285_?)del
|
|
|
NC_000016.9:g.(?_29802081)_(30200285_?)dup
|
|
|
NC_000016.9:g.(?_29824311)_(29827202_?)dup
|
|
|
NC_000016.9:g.(?_29824356)_(29825979_?)dup
|
|
|
NC_000016.9:g.(?_29824366)_(29825969_?)dup
|
|
|
NC_000016.9:g.(?_29824744)_(29826559_?)del
|
|
|
NC_000016.9:g.(?_29825262)_(29830230_?)del
|
|
|
NC_000016.9:g.(?_29825620)_(29825969_?)del
|
|
|
NC_000019.10:g.(?_41966917)_(41978818_?)dup
|
|
|
NC_000019.10:g.(?_41968775)_(41970552_?)del
|
|
|
NC_000019.9:g.(?_42471089)_(42486278_?)del
|
|
|
NC_000019.9:g.(?_42479761)_(42492734_?)del
|
|
|
NC_000019.9:g.(?_42482078)_(42498228_?)dup
|
|
|
NC_000019.9:g.(?_42489050)_(42490401_?)del
|
|
|
NC_000019.9:g.(?_42489996)_(42492734_?)dup
|
|
|
NC_000022.10:g.(?_37154355)_(39148633_?)del
|
|
|
NG_050658.1:g.(5235_69181)_(69440_100126)del
|
|
|
NM_000051.4(ATM):c.496+5G>A
|
rs796051858
|
|
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp)
|
rs397514577
|
|
NM_000051.4(ATM):c.8030A>G (p.Tyr2677Cys)
|
rs28942103
|
|
NM_000051.4(ATM):c.8480T>G (p.Phe2827Cys)
|
rs121434216
|
|
NM_000217.3(KCNA1):c.1187G>T (p.Gly396Val)
|
rs2137673958
|
|
NM_000834.5(GRIN2B):c.3638A>T (p.Asn1213Ile)
|
rs1948583655
|
|
NM_001040142.2(SCN2A):c.3972G>A (p.Arg1324=)
|
rs1057518117
|
|
NM_001044.5(SLC6A3):c.1031+1G>A
|
rs431905514
|
|
NM_001044.5(SLC6A3):c.1031+6C>T
|
rs767925756
|
|
NM_001044.5(SLC6A3):c.1031+71G>T
|
rs40358
|
|
NM_001044.5(SLC6A3):c.1032-17G>A
|
|
|
NM_001044.5(SLC6A3):c.1032-20G>A
|
rs200430075
|
|
NM_001044.5(SLC6A3):c.1032-20G>C
|
rs200430075
|
|
NM_001044.5(SLC6A3):c.1032-5T>C
|
rs1208452818
|
|
NM_001044.5(SLC6A3):c.1042G>C (p.Val348Leu)
|
rs1756241093
|
|
NM_001044.5(SLC6A3):c.1068G>A (p.Thr356=)
|
rs562538093
|
|
NM_001044.5(SLC6A3):c.1083C>G (p.Gly361=)
|
|
|
NM_001044.5(SLC6A3):c.1084T>C (p.Phe362Leu)
|
|
|
NM_001044.5(SLC6A3):c.1087G>C (p.Val363Leu)
|
|
|
NM_001044.5(SLC6A3):c.1090G>A (p.Val364Ile)
|
|
|
NM_001044.5(SLC6A3):c.1103T>A (p.Leu368Gln)
|
rs267607068
|
|
NM_001044.5(SLC6A3):c.1104G>A (p.Leu368=)
|
|
|
NM_001044.5(SLC6A3):c.1107G>A (p.Gly369=)
|
rs759094634
|
|
NM_001044.5(SLC6A3):c.1111A>C (p.Met371Leu)
|
|
|
NM_001044.5(SLC6A3):c.1131G>T (p.Val377=)
|
|
|
NM_001044.5(SLC6A3):c.114C>G (p.Asn38Lys)
|
rs6350
|
|
NM_001044.5(SLC6A3):c.1156+9C>T
|
rs921062478
|
|
NM_001044.5(SLC6A3):c.1156G>A (p.Gly386Arg)
|
|
|
NM_001044.5(SLC6A3):c.1157-20C>G
|
rs2126344195
|
|
NM_001044.5(SLC6A3):c.1161A>G (p.Pro387=)
|
|
|
NM_001044.5(SLC6A3):c.117A>G (p.Gly39=)
|
|
|
NM_001044.5(SLC6A3):c.1197C>G (p.Ala399=)
|
rs1171195804
|
|
NM_001044.5(SLC6A3):c.1216G>A (p.Ala406Thr)
|
rs1402133250
|
|
NM_001044.5(SLC6A3):c.1225G>A (p.Val409Met)
|
|
|
NM_001044.5(SLC6A3):c.1248C>T (p.Leu416=)
|
rs1553985998
|
|
NM_001044.5(SLC6A3):c.1251C>T (p.Thr417=)
|
|
|
NM_001044.5(SLC6A3):c.1260C>T (p.Ile420=)
|
|
|
NM_001044.5(SLC6A3):c.1266C>T (p.Ser422=)
|
|
|
NM_001044.5(SLC6A3):c.1267G>A (p.Ala423Thr)
|
rs1170256759
|
|
NM_001044.5(SLC6A3):c.1269+12G>T
|
|
|
NM_001044.5(SLC6A3):c.1269+17G>A
|
rs374618829
|
|
NM_001044.5(SLC6A3):c.1269+5G>A
|
rs2126343796
|
|
NM_001044.5(SLC6A3):c.1270-12C>T
|
|
|
NM_001044.5(SLC6A3):c.1270-19C>T
|
|
|
NM_001044.5(SLC6A3):c.1270-4G>A
|
|
|
NM_001044.5(SLC6A3):c.1293C>T (p.Ile431=)
|
rs2126340135
|
|
NM_001044.5(SLC6A3):c.1299G>T (p.Gly433=)
|
rs1480967154
|
|
NM_001044.5(SLC6A3):c.1305C>A (p.Ile435=)
|
|
|
NM_001044.5(SLC6A3):c.1305C>G (p.Ile435Met)
|
rs760545154
|
|
NM_001044.5(SLC6A3):c.1305C>T (p.Ile435=)
|
rs760545154
|
|
NM_001044.5(SLC6A3):c.1311G>C (p.Glu437Asp)
|
rs752558131
|
|
NM_001044.5(SLC6A3):c.132C>T (p.Ser44=)
|
|
|
NM_001044.5(SLC6A3):c.1347G>T (p.Thr449=)
|
rs759854756
|
|
NM_001044.5(SLC6A3):c.1359C>T (p.Val453=)
|
rs1399414786
|
|
NM_001044.5(SLC6A3):c.1371C>T (p.Phe457=)
|
rs770479961
|
|
NM_001044.5(SLC6A3):c.1379C>G (p.Ser460Cys)
|
|
|
NM_001044.5(SLC6A3):c.1398+12C>T
|
|
|
NM_001044.5(SLC6A3):c.1398+13G>A
|
|
|
NM_001044.5(SLC6A3):c.1398+16G>A
|
|
|
NM_001044.5(SLC6A3):c.1398+5G>A
|
rs1756068240
|
|
NM_001044.5(SLC6A3):c.1398+5_1398+6dup
|
rs2126339779
|
|
NM_001044.5(SLC6A3):c.1399-11C>T
|
|
|
NM_001044.5(SLC6A3):c.1399-11del
|
|
|
NM_001044.5(SLC6A3):c.1399-19A>G
|
|
|
NM_001044.5(SLC6A3):c.1408_1409delinsAG (p.Tyr470Ser)
|
rs2126338512
|
|
NM_001044.5(SLC6A3):c.1419G>A (p.Thr473=)
|
|
|
NM_001044.5(SLC6A3):c.1441G>A (p.Gly481Ser)
|
|
|
NM_001044.5(SLC6A3):c.1443C>T (p.Gly481=)
|
|
|
NM_001044.5(SLC6A3):c.1459G>A (p.Gly487Arg)
|
rs2126338372
|
|
NM_001044.5(SLC6A3):c.147C>T (p.Asn49=)
|
|
|
NM_001044.5(SLC6A3):c.1485G>A (p.Val495=)
|
rs1756052542
|
|
NM_001044.5(SLC6A3):c.1498+13_1498+14delinsTG
|
rs2126338242
|
|
NM_001044.5(SLC6A3):c.1498+8C>T
|
|
|
NM_001044.5(SLC6A3):c.1504G>A (p.Gly502Arg)
|
|
|
NM_001044.5(SLC6A3):c.150G>A (p.Pro50=)
|
rs6346
|
|
NM_001044.5(SLC6A3):c.1527G>C (p.Gln509His)
|
rs6880875
|
|
NM_001044.5(SLC6A3):c.1536C>T (p.Thr512=)
|
|
|
NM_001044.5(SLC6A3):c.1548C>T (p.Pro516=)
|
|
|
NM_001044.5(SLC6A3):c.1552C>G (p.Leu518Val)
|
|
|
NM_001044.5(SLC6A3):c.1554G>A (p.Leu518=)
|
|
|
NM_001044.5(SLC6A3):c.1569_1592delinsA (p.Cys523_Phe531delinsTer)
|
|
|
NM_001044.5(SLC6A3):c.1596C>T (p.Leu532=)
|
|
|
NM_001044.5(SLC6A3):c.1599+12C>G
|
rs150170183
|
|
NM_001044.5(SLC6A3):c.1600-9_1600-8delinsCT
|
rs2126324656
|
|
NM_001044.5(SLC6A3):c.1601T>G (p.Phe534Cys)
|
|
|
NM_001044.5(SLC6A3):c.1609G>A (p.Val537Met)
|
|
|
NM_001044.5(SLC6A3):c.1619T>C (p.Ile540Thr)
|
|
|
NM_001044.5(SLC6A3):c.1629C>T (p.Phe543=)
|
|
|
NM_001044.5(SLC6A3):c.162C>A (p.Pro54=)
|
|
|
NM_001044.5(SLC6A3):c.162C>G (p.Pro54=)
|
rs6351
|
|
NM_001044.5(SLC6A3):c.1633C>T (p.Pro545Ser)
|
|
|
NM_001044.5(SLC6A3):c.1639C>A (p.His547Asn)
|
rs781299950
|
|
NM_001044.5(SLC6A3):c.163G>T (p.Val55Leu)
|
|
|
NM_001044.5(SLC6A3):c.1648G>A (p.Ala550Thr)
|
rs1423226570
|
|
NM_001044.5(SLC6A3):c.1653C>T (p.Tyr551=)
|
|
|
NM_001044.5(SLC6A3):c.1674C>T (p.Asn558=)
|
|
|
NM_001044.5(SLC6A3):c.1675G>A (p.Ala559Thr)
|
|
|
NM_001044.5(SLC6A3):c.1676C>G (p.Ala559Gly)
|
|
|
NM_001044.5(SLC6A3):c.1677G>A (p.Ala559=)
|
rs767241571
|
|
NM_001044.5(SLC6A3):c.1693G>T (p.Ala565Ser)
|
|
|
NM_001044.5(SLC6A3):c.1698A>G (p.Thr566=)
|
|
|
NM_001044.5(SLC6A3):c.1725T>C (p.Tyr575=)
|
rs2126324184
|
|
NM_001044.5(SLC6A3):c.1767+14C>T
|
|
|
NM_001044.5(SLC6A3):c.1767+15G>A
|
|
|
NM_001044.5(SLC6A3):c.1767+16G>A
|
|
|
NM_001044.5(SLC6A3):c.1767+2T>C
|
rs2126324037
|
|
NM_001044.5(SLC6A3):c.1768-12T>C
|
|
|
NM_001044.5(SLC6A3):c.1768-7C>T
|
rs2126319630
|
|
NM_001044.5(SLC6A3):c.1768-7_1768-6del
|
rs781468421
|
|
NM_001044.5(SLC6A3):c.1775C>T (p.Ala592Val)
|
|
|
NM_001044.5(SLC6A3):c.1776C>G (p.Ala592=)
|
|
|
NM_001044.5(SLC6A3):c.178C>T (p.Arg60Trp)
|
rs1579729357
|
|
NM_001044.5(SLC6A3):c.1791C>T (p.Pro597=)
|
rs1310047234
|
|
NM_001044.5(SLC6A3):c.1792G>A (p.Glu598Lys)
|
|
|
NM_001044.5(SLC6A3):c.1794G>A (p.Glu598=)
|
|
|
NM_001044.5(SLC6A3):c.1806G>A (p.Glu602=)
|
rs2126319427
|
|
NM_001044.5(SLC6A3):c.180G>T (p.Arg60=)
|
|
|
NM_001044.5(SLC6A3):c.1812G>A (p.Val604=)
|
|
|
NM_001044.5(SLC6A3):c.1817G>A (p.Arg606Lys)
|
rs1755834750
|
|
NM_001044.5(SLC6A3):c.1839+15C>T
|
|
|
NM_001044.5(SLC6A3):c.1839+9_1839+14del
|
|
|
NM_001044.5(SLC6A3):c.1840-8C>A
|
rs755204020
|
|
NM_001044.5(SLC6A3):c.213G>A (p.Leu71=)
|
|
|
NM_001044.5(SLC6A3):c.215C>T (p.Ser72Phe)
|
rs1560928848
|
|
NM_001044.5(SLC6A3):c.217G>A (p.Val73Ile)
|
|
|
NM_001044.5(SLC6A3):c.21C>T (p.Ser7=)
|
|
|
NM_001044.5(SLC6A3):c.231T>C (p.Ala77=)
|
|
|
NM_001044.5(SLC6A3):c.246C>T (p.Asn82=)
|
|
|
NM_001044.5(SLC6A3):c.247G>A (p.Val83Ile)
|
|
|
NM_001044.5(SLC6A3):c.24G>A (p.Val8=)
|
|
|
NM_001044.5(SLC6A3):c.267G>A (p.Leu89=)
|
|
|
NM_001044.5(SLC6A3):c.286+10A>T
|
|
|
NM_001044.5(SLC6A3):c.286+16G>C
|
|
|
NM_001044.5(SLC6A3):c.286+18C>T
|
|
|
NM_001044.5(SLC6A3):c.286+6T>A
|
|
|
NM_001044.5(SLC6A3):c.286+8C>T
|
|
|
NM_001044.5(SLC6A3):c.287-13T>C
|
rs2126412495
|
|
NM_001044.5(SLC6A3):c.287-20G>C
|
|
|
NM_001044.5(SLC6A3):c.287-5C>G
|
|
|
NM_001044.5(SLC6A3):c.287-5C>T
|
|
|
NM_001044.5(SLC6A3):c.287-6C>T
|
|
|
NM_001044.5(SLC6A3):c.310C>A (p.Leu104Ile)
|
rs141740642
|
|
NM_001044.5(SLC6A3):c.366G>C (p.Gln122His)
|
rs1733660991
|
|
NM_001044.5(SLC6A3):c.376G>C (p.Glu126Gln)
|
rs746351989
|
|
NM_001044.5(SLC6A3):c.409A>G (p.Ile137Val)
|
rs1733660279
|
|
NM_001044.5(SLC6A3):c.418+16C>A
|
|
|
NM_001044.5(SLC6A3):c.418G>C (p.Gly140Arg)
|
rs1014165579
|
|
NM_001044.5(SLC6A3):c.419-12C>G
|
|
|
NM_001044.5(SLC6A3):c.419-16del
|
|
|
NM_001044.5(SLC6A3):c.419-5G>A
|
|
|
NM_001044.5(SLC6A3):c.419-5G>T
|
|
|
NM_001044.5(SLC6A3):c.432G>A (p.Thr144=)
|
|
|
NM_001044.5(SLC6A3):c.444C>T (p.Ile148=)
|
rs186229286
|
|
NM_001044.5(SLC6A3):c.457G>A (p.Gly153Ser)
|
|
|
NM_001044.5(SLC6A3):c.480C>T (p.Ile160=)
|
|
|
NM_001044.5(SLC6A3):c.493C>T (p.His165Tyr)
|
|
|
NM_001044.5(SLC6A3):c.50C>A (p.Pro17Gln)
|
|
|
NM_001044.5(SLC6A3):c.554A>G (p.Asn185Ser)
|
|
|
NM_001044.5(SLC6A3):c.57G>A (p.Lys19=)
|
rs1733721886
|
|
NM_001044.5(SLC6A3):c.584G>T (p.Gly195Val)
|
|
|
NM_001044.5(SLC6A3):c.586G>A (p.Asp196Asn)
|
rs2126394511
|
|
NM_001044.5(SLC6A3):c.605C>T (p.Ser202Leu)
|
rs149444784
|
|
NM_001044.5(SLC6A3):c.616G>C (p.Asp206His)
|
|
|
NM_001044.5(SLC6A3):c.625G>T (p.Gly209Trp)
|
|
|
NM_001044.5(SLC6A3):c.641C>T (p.Ala214Val)
|
|
|
NM_001044.5(SLC6A3):c.653+11G>A
|
|
|
NM_001044.5(SLC6A3):c.653+12T>C
|
|
|
NM_001044.5(SLC6A3):c.653+5G>A
|
rs1756726188
|
|
NM_001044.5(SLC6A3):c.654-17C>A
|
|
|
NM_001044.5(SLC6A3):c.654-18G>A
|
|
|
NM_001044.5(SLC6A3):c.654-3C>T
|
|
|
NM_001044.5(SLC6A3):c.654-8C>T
|
|
|
NM_001044.5(SLC6A3):c.660C>T (p.Gly220=)
|
|
|
NM_001044.5(SLC6A3):c.671T>C (p.Leu224Pro)
|
rs431905515
|
|
NM_001044.5(SLC6A3):c.678G>A (p.Gln226=)
|
|
|
NM_001044.5(SLC6A3):c.693C>T (p.Asp231=)
|
|
|
NM_001044.5(SLC6A3):c.69C>T (p.Ala23=)
|
|
|
NM_001044.5(SLC6A3):c.701G>T (p.Gly234Val)
|
|
|
NM_001044.5(SLC6A3):c.708G>A (p.Pro236=)
|
|
|
NM_001044.5(SLC6A3):c.71T>G (p.Val24Gly)
|
rs2126415795
|
|
NM_001044.5(SLC6A3):c.732G>A (p.Leu244=)
|
|
|
NM_001044.5(SLC6A3):c.741C>T (p.Val247=)
|
|
|
NM_001044.5(SLC6A3):c.744C>T (p.Ile248=)
|
|
|
NM_001044.5(SLC6A3):c.774C>T (p.Gly258=)
|
|
|
NM_001044.5(SLC6A3):c.792+18C>T
|
|
|
NM_001044.5(SLC6A3):c.792+4A>T
|
|
|
NM_001044.5(SLC6A3):c.792+9C>T
|
|
|
NM_001044.5(SLC6A3):c.793-16C>G
|
rs1756412005
|
|
NM_001044.5(SLC6A3):c.793-7C>T
|
|
|
NM_001044.5(SLC6A3):c.810C>G (p.Ala270=)
|
|
|
NM_001044.5(SLC6A3):c.81G>C (p.Lys27Asn)
|
rs915327713
|
|
NM_001044.5(SLC6A3):c.823G>A (p.Val275Met)
|
rs141056632
|
|
NM_001044.5(SLC6A3):c.837C>G (p.Ala279=)
|
rs2126368210
|
|
NM_001044.5(SLC6A3):c.84G>A (p.Glu28=)
|
|
|
NM_001044.5(SLC6A3):c.870C>T (p.Ala290=)
|
|
|
NM_001044.5(SLC6A3):c.875A>G (p.Asp292Gly)
|
|
|
NM_001044.5(SLC6A3):c.876C>A (p.Asp292Glu)
|
rs146615804
|
|
NM_001044.5(SLC6A3):c.876C>T (p.Asp292=)
|
rs146615804
|
|
NM_001044.5(SLC6A3):c.886G>A (p.Ala296Thr)
|
|
|
NM_001044.5(SLC6A3):c.892del (p.Tyr297_Leu298insTer)
|
rs1756409749
|
|
NM_001044.5(SLC6A3):c.897C>T (p.Ser299=)
|
|
|
NM_001044.5(SLC6A3):c.923C>T (p.Ala308Val)
|
rs373667971
|
|
NM_001044.5(SLC6A3):c.927+11T>A
|
|
|
NM_001044.5(SLC6A3):c.927+8_927+9del
|
|
|
NM_001044.5(SLC6A3):c.928-12C>G
|
|
|
NM_001044.5(SLC6A3):c.928-16C>T
|
|
|
NM_001044.5(SLC6A3):c.942G>A (p.Ala314=)
|
|
|
NM_001044.5(SLC6A3):c.960C>T (p.Phe320=)
|
rs1260915789
|
|
NM_001044.5(SLC6A3):c.963C>T (p.Ser321=)
|
|
|
NM_001044.5(SLC6A3):c.970G>A (p.Val324Met)
|
rs779887018
|
|
NM_001044.5(SLC6A3):c.990C>T (p.Ile330=)
|
|
|
NM_001044.5(SLC6A3):c.991G>C (p.Ala331Pro)
|
rs1756285412
|
|
NM_001044.5(SLC6A3):c.997T>G (p.Ser333Ala)
|
rs1756285211
|
|
NM_001139517.1(PRKRA):c.27_28ins57 (p.?)
|
|
|
NM_001282684.2(KCTD17):c.-11C>G
|
|
|
NM_001282684.2(KCTD17):c.144C>T (p.Ser48=)
|
rs572333922
|
|
NM_001282684.2(KCTD17):c.189+19G>A
|
|
|
NM_001282684.2(KCTD17):c.18G>C (p.Gly6=)
|
|
|
NM_001282684.2(KCTD17):c.190-15C>T
|
|
|
NM_001282684.2(KCTD17):c.199G>C (p.Gly67Arg)
|
|
|
NM_001282684.2(KCTD17):c.202G>A (p.Ala68Thr)
|
|
|
NM_001282684.2(KCTD17):c.20A>G (p.Glu7Gly)
|
rs1440603288
|
|
NM_001282684.2(KCTD17):c.283G>C (p.Asp95His)
|
|
|
NM_001282684.2(KCTD17):c.331G>A (p.Gly111Ser)
|
|
|
NM_001282684.2(KCTD17):c.332G>A (p.Gly111Asp)
|
rs2145972098
|
|
NM_001282684.2(KCTD17):c.332G>T (p.Gly111Val)
|
|
|
NM_001282684.2(KCTD17):c.346A>C (p.Ile116Leu)
|
|
|
NM_001282684.2(KCTD17):c.360G>A (p.Arg120=)
|
|
|
NM_001282684.2(KCTD17):c.380C>T (p.Thr127Met)
|
|
|
NM_001282684.2(KCTD17):c.390+13G>A
|
|
|
NM_001282684.2(KCTD17):c.390+20C>A
|
|
|
NM_001282684.2(KCTD17):c.391-14C>T
|
|
|
NM_001282684.2(KCTD17):c.391-8G>T
|
rs770530808
|
|
NM_001282684.2(KCTD17):c.40G>T (p.Ala14Ser)
|
|
|
NM_001282684.2(KCTD17):c.413G>A (p.Arg138His)
|
rs786205860
|
|
NM_001282684.2(KCTD17):c.415G>T (p.Val139Leu)
|
|
|
NM_001282684.2(KCTD17):c.42G>A (p.Ala14=)
|
|
|
NM_001282684.2(KCTD17):c.436G>A (p.Glu146Lys)
|
|
|
NM_001282684.2(KCTD17):c.475C>T (p.Arg159Cys)
|
|
|
NM_001282684.2(KCTD17):c.486+4C>T
|
|
|
NM_001282684.2(KCTD17):c.489G>T (p.Leu163=)
|
|
|
NM_001282684.2(KCTD17):c.516C>T (p.Tyr172=)
|
|
|
NM_001282684.2(KCTD17):c.529C>A (p.Gln177Lys)
|
rs1601495318
|
|
NM_001282684.2(KCTD17):c.535G>A (p.Glu179Lys)
|
rs6000546
|
|
NM_001282684.2(KCTD17):c.547dup (p.Val183fs)
|
|
|
NM_001282684.2(KCTD17):c.557A>G (p.Lys186Arg)
|
|
|
NM_001282684.2(KCTD17):c.571A>G (p.Thr191Ala)
|
rs2145986921
|
|
NM_001282684.2(KCTD17):c.579C>T (p.Asn193=)
|
|
|
NM_001282684.2(KCTD17):c.57A>C (p.Ala19=)
|
|
|
NM_001282684.2(KCTD17):c.580G>A (p.Gly194Arg)
|
|
|
NM_001282684.2(KCTD17):c.5G>C (p.Arg2Thr)
|
rs1924499850
|
|
NM_001282684.2(KCTD17):c.601C>T (p.Arg201Cys)
|
|
|
NM_001282684.2(KCTD17):c.611A>C (p.Lys204Thr)
|
rs1601495664
|
|
NM_001282684.2(KCTD17):c.612+12C>T
|
|
|
NM_001282684.2(KCTD17):c.613-14C>T
|
|
|
NM_001282684.2(KCTD17):c.613-17C>T
|
|
|
NM_001282684.2(KCTD17):c.617C>T (p.Thr206Met)
|
|
|
NM_001282684.2(KCTD17):c.634G>A (p.Glu212Lys)
|
|
|
NM_001282684.2(KCTD17):c.653_667dup (p.Glu222_Val223insGluGluValGluGlu)
|
|
|
NM_001282684.2(KCTD17):c.656AGGTGGAGG[1] (p.219EVE[1])
|
|
|
NM_001282684.2(KCTD17):c.668T>C (p.Val223Ala)
|
rs2145994501
|
|
NM_001282684.2(KCTD17):c.6G>C (p.Arg2Ser)
|
|
|
NM_001282684.2(KCTD17):c.735T>G (p.Ala245=)
|
|
|
NM_001282684.2(KCTD17):c.770C>T (p.Pro257Leu)
|
|
|
NM_001282684.2(KCTD17):c.771G>A (p.Pro257=)
|
|
|
NM_001282684.2(KCTD17):c.785-10C>T
|
|
|
NM_001282684.2(KCTD17):c.785-15G>A
|
|
|
NM_001282684.2(KCTD17):c.790C>T (p.Arg264Cys)
|
|
|
NM_001282684.2(KCTD17):c.794C>T (p.Pro265Leu)
|
|
|
NM_001282684.2(KCTD17):c.795G>A (p.Pro265=)
|
|
|
NM_001282684.2(KCTD17):c.842G>A (p.Arg281Gln)
|
rs770794932
|
|
NM_001282684.2(KCTD17):c.842G>C (p.Arg281Pro)
|
|
|
NM_001282684.2(KCTD17):c.849C>T (p.Leu283=)
|
|
|
NM_001282684.2(KCTD17):c.875+15G>A
|
|
|
NM_001282684.2(KCTD17):c.875+9C>T
|
|
|
NM_001282684.2(KCTD17):c.876-13C>G
|
|
|
NM_001282684.2(KCTD17):c.876-13_876-12del
|
rs754259514
|
|
NM_001282684.2(KCTD17):c.876-20T>G
|
|
|
NM_001282684.2(KCTD17):c.876-5dup
|
|
|
NM_001282684.2(KCTD17):c.892G>A (p.Ala298Thr)
|
|
|
NM_001282684.2(KCTD17):c.898G>A (p.Gly300Arg)
|
|
|
NM_001282684.2(KCTD17):c.898G>T (p.Gly300Ter)
|
|
|
NM_001282684.2(KCTD17):c.906G>A (p.Glu302=)
|
|
|
NM_001282684.2(KCTD17):c.90G>C (p.Val30=)
|
|
|
NM_001282684.2(KCTD17):c.941T>C (p.Ile314Thr)
|
|
|
NM_003054.6(SLC18A2):c.1160C>T (p.Pro387Leu)
|
rs1392638187
|
|
NM_003054.6(SLC18A2):c.1196A>C (p.Asp399Ala)
|
|
|
NM_003054.6(SLC18A2):c.1306+43G>A
|
rs363272
|
|
NM_003054.6(SLC18A2):c.216dup (p.Asp73fs)
|
|
|
NM_003054.6(SLC18A2):c.240_244del (p.Ser80_Tyr81insTer)
|
|
|
NM_003054.6(SLC18A2):c.33G>A (p.Trp11Ter)
|
rs2133723906
|
|
NM_003054.6(SLC18A2):c.590C>T (p.Ser197Phe)
|
|
|
NM_003054.6(SLC18A2):c.710C>A (p.Pro237His)
|
rs767337086
|
|
NM_003054.6(SLC18A2):c.946C>G (p.Pro316Ala)
|
rs1589981178
|
|
NM_003690.5(PRKRA):c.*180C>T
|
rs886055202
|
|
NM_003690.5(PRKRA):c.*576G>A
|
rs1696648689
|
|
NM_003690.5(PRKRA):c.-11C>T
|
rs767401214
|
|
NM_003690.5(PRKRA):c.-133C>G
|
rs80197731
|
|
NM_003690.5(PRKRA):c.-14C>T
|
rs181793341
|
|
NM_003690.5(PRKRA):c.109C>G (p.Gln37Glu)
|
rs2154125583
|
|
NM_003690.5(PRKRA):c.131T>C (p.Met44Thr)
|
rs1553599437
|
|
NM_003690.5(PRKRA):c.15G>A (p.Arg5=)
|
|
|
NM_003690.5(PRKRA):c.161G>T (p.Cys54Phe)
|
|
|
NM_003690.5(PRKRA):c.180A>G (p.Gln60=)
|
|
|
NM_003690.5(PRKRA):c.1A>G (p.Met1Val)
|
rs9406386
|
|
NM_003690.5(PRKRA):c.203T>A (p.Phe68Tyr)
|
|
|
NM_003690.5(PRKRA):c.228C>G (p.Thr76=)
|
|
|
NM_003690.5(PRKRA):c.22_23del (p.Ala8fs)
|
rs141354030
|
|
NM_003690.5(PRKRA):c.230G>C (p.Cys77Ser)
|
rs2154125572
|
|
NM_003690.5(PRKRA):c.235+20C>G
|
|
|
NM_003690.5(PRKRA):c.250AAG[3] (p.Lys85_Leu86insLys)
|
|
|
NM_003690.5(PRKRA):c.256C>G (p.Leu86Val)
|
rs1311237497
|
|
NM_003690.5(PRKRA):c.25G>A (p.Glu9Lys)
|
|
|
NM_003690.5(PRKRA):c.267_268del (p.His89fs)
|
rs730880307
|
|
NM_003690.5(PRKRA):c.270A>C (p.Arg90Ser)
|
|
|
NM_003690.5(PRKRA):c.285C>A (p.Ala95=)
|
rs546281621
|
|
NM_003690.5(PRKRA):c.286A>G (p.Ile96Val)
|
|
|
NM_003690.5(PRKRA):c.308C>T (p.Ala103Val)
|
rs2154125404
|
|
NM_003690.5(PRKRA):c.309A>C (p.Ala103=)
|
|
|
NM_003690.5(PRKRA):c.317+14C>T
|
|
|
NM_003690.5(PRKRA):c.318-20C>G
|
|
|
NM_003690.5(PRKRA):c.319T>C (p.Phe107Leu)
|
rs1369422271
|
|
NM_003690.5(PRKRA):c.32C>G (p.Pro11Arg)
|
rs62176112
|
|
NM_003690.5(PRKRA):c.348C>T (p.Asp116=)
|
rs752108367
|
|
NM_003690.5(PRKRA):c.377A>G (p.Asn126Ser)
|
rs1553597653
|
|
NM_003690.5(PRKRA):c.397-19C>T
|
|
|
NM_003690.5(PRKRA):c.435T>C (p.Tyr145=)
|
|
|
NM_003690.5(PRKRA):c.500C>T (p.Ser167Leu)
|
rs747134851
|
|
NM_003690.5(PRKRA):c.514+13T>C
|
|
|
NM_003690.5(PRKRA):c.514+15C>A
|
|
|
NM_003690.5(PRKRA):c.514+2T>A
|
|
|
NM_003690.5(PRKRA):c.515-11del
|
rs199996045
|
|
NM_003690.5(PRKRA):c.535C>T (p.Gln179Ter)
|
|
|
NM_003690.5(PRKRA):c.578G>C (p.Ser193Thr)
|
|
|
NM_003690.5(PRKRA):c.581A>G (p.Asn194Ser)
|
|
|
NM_003690.5(PRKRA):c.610-11_610-10del
|
rs138320145
|
|
NM_003690.5(PRKRA):c.610-18T>G
|
|
|
NM_003690.5(PRKRA):c.610-1_610insGAATGCTGCTGAGAAATTTCTTGCCAAATTTAGTAATATTTCTCCAGAGAACCACATTTCTTTA
|
rs775832077
|
|
NM_003690.5(PRKRA):c.616G>A (p.Val206Ile)
|
|
|
NM_003690.5(PRKRA):c.637T>C (p.Cys213Arg)
|
rs1575088174
|
|
NM_003690.5(PRKRA):c.65+12G>A
|
|
|
NM_003690.5(PRKRA):c.65+15A>C
|
rs2154125656
|
|
NM_003690.5(PRKRA):c.65+18C>T
|
|
|
NM_003690.5(PRKRA):c.65+20G>A
|
|
|
NM_003690.5(PRKRA):c.66-4_66-3insTCCCAGAGCAGGCACCGCCGAGGCCCTGCCGCTGGAGCGCGAGGACAGTGGGACCTT
|
rs1553599483
|
|
NM_003690.5(PRKRA):c.680A>G (p.Asn227Ser)
|
rs1158107453
|
|
NM_003690.5(PRKRA):c.699C>T (p.Leu233=)
|
|
|
NM_003690.5(PRKRA):c.71G>C (p.Gly24Ala)
|
|
|
NM_003690.5(PRKRA):c.784+14T>A
|
rs748087429
|
|
NM_003690.5(PRKRA):c.784+15del
|
rs200581051
|
|
NM_003690.5(PRKRA):c.784+15dup
|
|
|
NM_003690.5(PRKRA):c.785-14A>C
|
|
|
NM_003690.5(PRKRA):c.785-2_785-1insATATTTGGATAT
|
rs751875722
|
|
NM_003690.5(PRKRA):c.795C>A (p.Ser265Arg)
|
rs150679361
|
|
NM_003690.5(PRKRA):c.840C>T (p.Pro280=)
|
rs1176724773
|
|
NM_003690.5(PRKRA):c.84A>G (p.Thr28=)
|
rs1336241160
|
|
NM_003690.5(PRKRA):c.854A>G (p.His285Arg)
|
|
|
NM_003690.5(PRKRA):c.861C>A (p.Ser287=)
|
|
|
NM_003690.5(PRKRA):c.870C>T (p.Ser290=)
|
rs537898766
|
|
NM_003690.5(PRKRA):c.891T>C (p.Asp297=)
|
rs2154124431
|
|
NM_003690.5(PRKRA):c.923T>C (p.Ile308Thr)
|
|
|
NM_003919.2(SGCE):c.-37_-33dupGGGAG
|
rs534632849
|
|
NM_003919.2(SGCE):c.464_662del
|
|
|
NM_003919.3(SGCE):c.1003C>T (p.Leu335Phe)
|
rs1799068772
|
|
NM_003919.3(SGCE):c.1010A>G (p.Tyr337Cys)
|
rs1799066913
|
|
NM_003919.3(SGCE):c.1011del (p.Ala336_Tyr337insTer)
|
rs2116693521
|
|
NM_003919.3(SGCE):c.1012A>G (p.Ile338Val)
|
|
|
NM_003919.3(SGCE):c.1013T>C (p.Ile338Thr)
|
|
|
NM_003919.3(SGCE):c.1016T>C (p.Met339Thr)
|
rs1468730105
|
|
NM_003919.3(SGCE):c.1024C>T (p.Arg342Ter)
|
|
|
NM_003919.3(SGCE):c.1037+10T>G
|
rs2116693166
|
|
NM_003919.3(SGCE):c.1037+19A>T
|
|
|
NM_003919.3(SGCE):c.1037+3del
|
|
|
NM_003919.3(SGCE):c.1038-12T>C
|
|
|
NM_003919.3(SGCE):c.1038-13G>A
|
|
|
NM_003919.3(SGCE):c.1038-18A>G
|
rs779693236
|
|
NM_003919.3(SGCE):c.1038-9T>G
|
rs1187065404
|
|
NM_003919.3(SGCE):c.1038G>C (p.Val346=)
|
rs1584526749
|
|
NM_003919.3(SGCE):c.103C>T (p.Leu35=)
|
rs1808616421
|
|
NM_003919.3(SGCE):c.1042_1043del (p.Lys348fs)
|
|
|
NM_003919.3(SGCE):c.1046G>C (p.Arg349Thr)
|
rs1798921521
|
|
NM_003919.3(SGCE):c.104T>C (p.Leu35Pro)
|
rs2117137538
|
|
NM_003919.3(SGCE):c.1052T>C (p.Met351Thr)
|
|
|
NM_003919.3(SGCE):c.1058C>A (p.Thr353Lys)
|
rs2116684872
|
|
NM_003919.3(SGCE):c.1058_1062del (p.Thr353fs)
|
|
|
NM_003919.3(SGCE):c.1062A>G (p.Pro354=)
|
|
|
NM_003919.3(SGCE):c.1064+11T>A
|
|
|
NM_003919.3(SGCE):c.1064+14T>C
|
|
|
NM_003919.3(SGCE):c.1064+17C>T
|
|
|
NM_003919.3(SGCE):c.1064+19G>C
|
|
|
NM_003919.3(SGCE):c.1064+3_1064+6del
|
rs1304738505
|
|
NM_003919.3(SGCE):c.1064+9C>T
|
rs1798913576
|
|
NM_003919.3(SGCE):c.1065-22_1065-18del
|
rs766688362
|
|
NM_003919.3(SGCE):c.1065-22_1065-20del
|
rs752597509
|
|
NM_003919.3(SGCE):c.1065-6A>G
|
|
|
NM_003919.3(SGCE):c.1065C>T (p.Asp355=)
|
rs886062520
|
|
NM_003919.3(SGCE):c.1072C>G (p.Leu358Val)
|
|
|
NM_003919.3(SGCE):c.1075G>A (p.Val359Ile)
|
|
|
NM_003919.3(SGCE):c.1075G>C (p.Val359Leu)
|
|
|
NM_003919.3(SGCE):c.1078C>T (p.His360Tyr)
|
rs2116677287
|
|
NM_003919.3(SGCE):c.107C>T (p.Thr36Ile)
|
rs2117137516
|
|
NM_003919.3(SGCE):c.109+1G>A
|
rs1808615750
|
|
NM_003919.3(SGCE):c.109+2T>C
|
rs2117137466
|
|
NM_003919.3(SGCE):c.109+3dup
|
rs2117137426
|
|
NM_003919.3(SGCE):c.109+4A>G
|
|
|
NM_003919.3(SGCE):c.1091T>C (p.Ile364Thr)
|
rs1798813790
|
|
NM_003919.3(SGCE):c.109G>A (p.Val37Met)
|
rs1562916805
|
|
NM_003919.3(SGCE):c.110-10T>G
|
|
|
NM_003919.3(SGCE):c.110-15C>T
|
|
|
NM_003919.3(SGCE):c.110-1G>T
|
|
|
NM_003919.3(SGCE):c.110-9608G>A
|
rs2117037022
|
|
NM_003919.3(SGCE):c.1101T>A (p.Ser367=)
|
rs756672671
|
|
NM_003919.3(SGCE):c.1104C>A (p.Thr368=)
|
rs978868528
|
|
NM_003919.3(SGCE):c.1106A>G (p.Lys369Arg)
|
rs753092622
|
|
NM_003919.3(SGCE):c.1107G>A (p.Lys369=)
|
|
|
NM_003919.3(SGCE):c.1121T>C (p.Met374Thr)
|
rs751967746
|
|
NM_003919.3(SGCE):c.1122G>A (p.Met374Ile)
|
rs1798808645
|
|
NM_003919.3(SGCE):c.1129A>C (p.Asn377His)
|
rs763064939
|
|
NM_003919.3(SGCE):c.1134A>C (p.Arg378Ser)
|
rs886043602
|
|
NM_003919.3(SGCE):c.1135G>A (p.Glu379Lys)
|
|
|
NM_003919.3(SGCE):c.1139T>C (p.Ile380Thr)
|
rs765193255
|
|
NM_003919.3(SGCE):c.1139T>G (p.Ile380Arg)
|
rs765193255
|
|
NM_003919.3(SGCE):c.1141G>C (p.Ala381Pro)
|
rs1341048280
|
|
NM_003919.3(SGCE):c.1151T>G (p.Leu384Arg)
|
rs2116675766
|
|
NM_003919.3(SGCE):c.1151del (p.Leu384fs)
|
|
|
NM_003919.3(SGCE):c.1153T>C (p.Ser385Pro)
|
rs1274760811
|
|
NM_003919.3(SGCE):c.1155A>G (p.Ser385=)
|
|
|
NM_003919.3(SGCE):c.1156A>G (p.Thr386Ala)
|
|
|
NM_003919.3(SGCE):c.1157C>G (p.Thr386Arg)
|
rs370800943
|
|
NM_003919.3(SGCE):c.1157C>T (p.Thr386Met)
|
|
|
NM_003919.3(SGCE):c.1163del (p.Pro388fs)
|
|
|
NM_003919.3(SGCE):c.1178T>C (p.Val393Ala)
|
|
|
NM_003919.3(SGCE):c.1186G>A (p.Glu396Lys)
|
rs781781262
|
|
NM_003919.3(SGCE):c.1195C>G (p.Pro399Ala)
|
rs747427574
|
|
NM_003919.3(SGCE):c.1195C>T (p.Pro399Ser)
|
|
|
NM_003919.3(SGCE):c.1196C>G (p.Pro399Arg)
|
|
|
NM_003919.3(SGCE):c.1198C>T (p.Pro400Ser)
|
rs2116674435
|
|
NM_003919.3(SGCE):c.1202T>C (p.Leu401Ser)
|
|
|
NM_003919.3(SGCE):c.1208_1209del (p.Thr403fs)
|
|
|
NM_003919.3(SGCE):c.1210_1213del (p.Asp404fs)
|
rs886039595
|
|
NM_003919.3(SGCE):c.1214A>G (p.Asn405Ser)
|
rs1584521458
|
|
NM_003919.3(SGCE):c.1217A>G (p.Tyr406Cys)
|
|
|
NM_003919.3(SGCE):c.1218T>C (p.Tyr406=)
|
|
|
NM_003919.3(SGCE):c.1221T>C (p.Asp407=)
|
|
|
NM_003919.3(SGCE):c.1234C>T (p.Pro412Ser)
|
|
|
NM_003919.3(SGCE):c.1238T>C (p.Leu413Ser)
|
rs1562800480
|
|
NM_003919.3(SGCE):c.1245A>G (p.Gln415=)
|
|
|
NM_003919.3(SGCE):c.1248G>C (p.Thr416=)
|
rs759435338
|
|
NM_003919.3(SGCE):c.1253+14T>C
|
|
|
NM_003919.3(SGCE):c.1253+16G>A
|
|
|
NM_003919.3(SGCE):c.1253+16G>C
|
|
|
NM_003919.3(SGCE):c.1253+2dup
|
rs1798783016
|
|
NM_003919.3(SGCE):c.1253+799G>A
|
|
|
NM_003919.3(SGCE):c.1253+811A>C
|
rs10247562
|
|
NM_003919.3(SGCE):c.1254-10del
|
rs1584475449
|
|
NM_003919.3(SGCE):c.1254-9_1254-7del
|
rs201696689
|
|
NM_003919.3(SGCE):c.1265A>C (p.His422Pro)
|
|
|
NM_003919.3(SGCE):c.1271C>G (p.Thr424Ser)
|
|
|
NM_003919.3(SGCE):c.1277T>C (p.Ile426Thr)
|
rs1023091295
|
|
NM_003919.3(SGCE):c.1294A>G (p.Thr432Ala)
|
|
|
NM_003919.3(SGCE):c.1295C>T (p.Thr432Ile)
|
|
|
NM_003919.3(SGCE):c.1296dup (p.Gly433fs)
|
rs2116568066
|
|
NM_003919.3(SGCE):c.1297+12G>T
|
|
|
NM_003919.3(SGCE):c.1297+18T>C
|
rs761278877
|
|
NM_003919.3(SGCE):c.1297+19A>G
|
|
|
NM_003919.3(SGCE):c.1298-10C>T
|
rs1584460451
|
|
NM_003919.3(SGCE):c.1298-14C>A
|
|
|
NM_003919.3(SGCE):c.1298-18C>T
|
rs1796774548
|
|
NM_003919.3(SGCE):c.129_130delinsT (p.Lys43fs)
|
rs1804394258
|
|
NM_003919.3(SGCE):c.133C>A (p.His45Asn)
|
|
|
NM_003919.3(SGCE):c.133C>T (p.His45Tyr)
|
|
|
NM_003919.3(SGCE):c.139G>T (p.Asp47Tyr)
|
|
|
NM_003919.3(SGCE):c.142C>A (p.Arg48=)
|
rs760964336
|
|
NM_003919.3(SGCE):c.148G>A (p.Val50Ile)
|
rs1562867795
|
|
NM_003919.3(SGCE):c.153C>G (p.Tyr51Ter)
|
rs2116972912
|
|
NM_003919.3(SGCE):c.158C>A (p.Ser53Ter)
|
|
|
NM_003919.3(SGCE):c.158C>T (p.Ser53Leu)
|
rs1231727428
|
|
NM_003919.3(SGCE):c.15G>T (p.Arg5=)
|
rs1808636031
|
|
NM_003919.3(SGCE):c.169C>T (p.Leu57Phe)
|
|
|
NM_003919.3(SGCE):c.170T>G (p.Leu57Arg)
|
rs1584700882
|
|
NM_003919.3(SGCE):c.172T>A (p.Phe58Ile)
|
|
|
NM_003919.3(SGCE):c.172T>C (p.Phe58Leu)
|
|
|
NM_003919.3(SGCE):c.176T>C (p.Val59Ala)
|
rs1584700773
|
|
NM_003919.3(SGCE):c.191_197dup (p.Tyr66Ter)
|
rs2116972508
|
|
NM_003919.3(SGCE):c.193_194del (p.Glu65fs)
|
rs2116972578
|
|
NM_003919.3(SGCE):c.207G>A (p.Gly69=)
|
|
|
NM_003919.3(SGCE):c.210A>T (p.Glu70Asp)
|
rs907043992
|
|
NM_003919.3(SGCE):c.218C>T (p.Pro73Leu)
|
rs758030589
|
|
NM_003919.3(SGCE):c.21G>C (p.Trp7Cys)
|
|
|
NM_003919.3(SGCE):c.225A>T (p.Pro75=)
|
rs2116972106
|
|
NM_003919.3(SGCE):c.22G>C (p.Glu8Gln)
|
rs1341174498
|
|
NM_003919.3(SGCE):c.232+14G>A
|
rs2116971817
|
|
NM_003919.3(SGCE):c.232+15A>G
|
|
|
NM_003919.3(SGCE):c.232+16G>A
|
|
|
NM_003919.3(SGCE):c.232+18A>G
|
|
|
NM_003919.3(SGCE):c.232+1G>C
|
|
|
NM_003919.3(SGCE):c.232+1G>T
|
rs1057517990
|
|
NM_003919.3(SGCE):c.232+3A>G
|
rs2116971996
|
|
NM_003919.3(SGCE):c.232+4del
|
rs1554359605
|
|
NM_003919.3(SGCE):c.232+5G>A
|
rs1554359595
|
|
NM_003919.3(SGCE):c.233-5T>A
|
rs749444131
|
|
NM_003919.3(SGCE):c.235G>T (p.Glu79Ter)
|
|
|
NM_003919.3(SGCE):c.246T>C (p.Asn82=)
|
|
|
NM_003919.3(SGCE):c.246T>G (p.Asn82Lys)
|
|
|
NM_003919.3(SGCE):c.252C>T (p.Pro84=)
|
|
|
NM_003919.3(SGCE):c.252_253del (p.Ile85fs)
|
|
|
NM_003919.3(SGCE):c.257C>G (p.Thr86Arg)
|
|
|
NM_003919.3(SGCE):c.259T>C (p.Phe87Leu)
|
rs1043859833
|
|
NM_003919.3(SGCE):c.263A>G (p.Asn88Ser)
|
|
|
NM_003919.3(SGCE):c.268A>T (p.Asn90Tyr)
|
rs1292233652
|
|
NM_003919.3(SGCE):c.272T>G (p.Leu91Ter)
|
|
|
NM_003919.3(SGCE):c.285A>G (p.Pro95=)
|
|
|
NM_003919.3(SGCE):c.287A>G (p.Asp96Gly)
|
rs1804079600
|
|
NM_003919.3(SGCE):c.288C>A (p.Asp96Glu)
|
rs1804079106
|
|
NM_003919.3(SGCE):c.289C>T (p.Arg97Ter)
|
rs121908489
|
|
NM_003919.3(SGCE):c.28G>T (p.Gly10Ter)
|
|
|
NM_003919.3(SGCE):c.294T>A (p.Pro98=)
|
rs138616225
|
|
NM_003919.3(SGCE):c.298T>C (p.Trp100Arg)
|
rs2116959521
|
|
NM_003919.3(SGCE):c.300G>C (p.Trp100Cys)
|
rs2116959448
|
|
NM_003919.3(SGCE):c.300del (p.Trp100fs)
|
rs1554358727
|
|
NM_003919.3(SGCE):c.301C>A (p.Leu101Ile)
|
|
|
NM_003919.3(SGCE):c.304C>A (p.Arg102=)
|
|
|
NM_003919.3(SGCE):c.306A>G (p.Arg102=)
|
|
|
NM_003919.3(SGCE):c.314A>G (p.Gln105Arg)
|
rs1584692239
|
|
NM_003919.3(SGCE):c.31G>C (p.Asp11His)
|
|
|
NM_003919.3(SGCE):c.320C>T (p.Thr107Ile)
|
|
|
NM_003919.3(SGCE):c.321del (p.Pro108fs)
|
rs2116959244
|
|
NM_003919.3(SGCE):c.324A>G (p.Pro108=)
|
|
|
NM_003919.3(SGCE):c.32A>G (p.Asp11Gly)
|
rs1021265778
|
|
NM_003919.3(SGCE):c.335G>A (p.Gly112Glu)
|
rs2116959049
|
|
NM_003919.3(SGCE):c.33C>T (p.Asp11=)
|
rs753678586
|
|
NM_003919.3(SGCE):c.344A>G (p.Tyr115Cys)
|
rs2116958989
|
|
NM_003919.3(SGCE):c.353dup (p.Thr119fs)
|
|
|
NM_003919.3(SGCE):c.370G>A (p.Gly124Arg)
|
rs142076876
|
|
NM_003919.3(SGCE):c.37_38insA (p.Cys13Ter)
|
rs766778442
|
|
NM_003919.3(SGCE):c.380C>G (p.Thr127Arg)
|
|
|
NM_003919.3(SGCE):c.381A>G (p.Thr127=)
|
|
|
NM_003919.3(SGCE):c.384C>T (p.Ile128=)
|
|
|
NM_003919.3(SGCE):c.386T>C (p.Ile129Thr)
|
rs1554358639
|
|
NM_003919.3(SGCE):c.390+10A>G
|
|
|
NM_003919.3(SGCE):c.390+12C>G
|
|
|
NM_003919.3(SGCE):c.390+14A>C
|
|
|
NM_003919.3(SGCE):c.390+2T>C
|
|
|
NM_003919.3(SGCE):c.390+3A>C
|
|
|
NM_003919.3(SGCE):c.390+4A>G
|
|
|
NM_003919.3(SGCE):c.391-18G>C
|
rs199922447
|
|
NM_003919.3(SGCE):c.391-19G>A
|
rs2116919102
|
|
NM_003919.3(SGCE):c.391-1G>A
|
rs1803142505
|
|
NM_003919.3(SGCE):c.391-1G>T
|
|
|
NM_003919.3(SGCE):c.391-82_405del
|
|
|
NM_003919.3(SGCE):c.39T>C (p.Cys13=)
|
rs2117138280
|
|
NM_003919.3(SGCE):c.402C>A (p.Tyr134Ter)
|
rs1554355416
|
|
NM_003919.3(SGCE):c.405C>T (p.Asn135=)
|
rs2116918607
|
|
NM_003919.3(SGCE):c.409C>A (p.Arg137Ser)
|
rs557861177
|
|
NM_003919.3(SGCE):c.410G>C (p.Arg137Pro)
|
|
|
NM_003919.3(SGCE):c.413C>A (p.Thr138Asn)
|
rs777335847
|
|
NM_003919.3(SGCE):c.413C>G (p.Thr138Ser)
|
rs777335847
|
|
NM_003919.3(SGCE):c.41C>T (p.Ala14Val)
|
rs2117138245
|
|
NM_003919.3(SGCE):c.434A>G (p.Asn145Ser)
|
|
|
NM_003919.3(SGCE):c.434_442dup (p.Asn145_Ile147dup)
|
rs1562853011
|
|
NM_003919.3(SGCE):c.436T>A (p.Leu146Met)
|
rs752074255
|
|
NM_003919.3(SGCE):c.436T>C (p.Leu146=)
|
rs752074255
|
|
NM_003919.3(SGCE):c.440T>G (p.Ile147Arg)
|
rs1803133053
|
|
NM_003919.3(SGCE):c.441_443del (p.Ile148del)
|
|
|
NM_003919.3(SGCE):c.443T>A (p.Ile148Asn)
|
|
|
NM_003919.3(SGCE):c.444_447del (p.Ile148_Asn149insTer)
|
rs1584663425
|
|
NM_003919.3(SGCE):c.446A>C (p.Asn149Thr)
|
rs991557646
|
|
NM_003919.3(SGCE):c.448_452del (p.Ile150fs)
|
rs2116918021
|
|
NM_003919.3(SGCE):c.450_452del (p.Ile150del)
|
rs886062522
|
|
NM_003919.3(SGCE):c.452T>A (p.Met151Lys)
|
rs750679376
|
|
NM_003919.3(SGCE):c.458C>T (p.Ala153Val)
|
rs1482958226
|
|
NM_003919.3(SGCE):c.463+12A>T
|
|
|
NM_003919.3(SGCE):c.463+13A>T
|
|
|
NM_003919.3(SGCE):c.463+15_463+16del
|
|
|
NM_003919.3(SGCE):c.463+17G>A
|
|
|
NM_003919.3(SGCE):c.463+19T>C
|
rs759488852
|
|
NM_003919.3(SGCE):c.463+1G>A
|
rs1584663290
|
|
NM_003919.3(SGCE):c.463+20G>T
|
|
|
NM_003919.3(SGCE):c.463+2T>A
|
rs2116917821
|
|
NM_003919.3(SGCE):c.463+5G>C
|
rs1210401434
|
|
NM_003919.3(SGCE):c.463+6T>G
|
rs754002445
|
|
NM_003919.3(SGCE):c.464-14T>A
|
rs187568437
|
|
NM_003919.3(SGCE):c.464-14T>C
|
|
|
NM_003919.3(SGCE):c.464-20C>T
|
|
|
NM_003919.3(SGCE):c.470del (p.Pro157fs)
|
rs1554353106
|
|
NM_003919.3(SGCE):c.475C>T (p.Pro159Ser)
|
rs1802351511
|
|
NM_003919.3(SGCE):c.483del (p.Ala162fs)
|
|
|
NM_003919.3(SGCE):c.484G>A (p.Ala162Thr)
|
|
|
NM_003919.3(SGCE):c.491T>C (p.Phe164Ser)
|
|
|
NM_003919.3(SGCE):c.492C>A (p.Phe164Leu)
|
|
|
NM_003919.3(SGCE):c.495_498del (p.Phe165fs)
|
rs2116882526
|
|
NM_003919.3(SGCE):c.4C>T (p.Gln2Ter)
|
|
|
NM_003919.3(SGCE):c.506T>C (p.Met169Thr)
|
rs1293308593
|
|
NM_003919.3(SGCE):c.513A>G (p.Val171=)
|
|
|
NM_003919.3(SGCE):c.51A>G (p.Gly17=)
|
rs2117138100
|
|
NM_003919.3(SGCE):c.521T>A (p.Met174Lys)
|
|
|
NM_003919.3(SGCE):c.521T>C (p.Met174Thr)
|
|
|
NM_003919.3(SGCE):c.521del (p.Met174fs)
|
rs2116882157
|
|
NM_003919.3(SGCE):c.535G>A (p.Val179Ile)
|
rs762854508
|
|
NM_003919.3(SGCE):c.536T>C (p.Val179Ala)
|
rs886062521
|
|
NM_003919.3(SGCE):c.538C>A (p.Leu180Ile)
|
|
|
NM_003919.3(SGCE):c.549_552del (p.Phe183fs)
|
rs1554352952
|
|
NM_003919.3(SGCE):c.550C>T (p.Leu184Phe)
|
rs761551499
|
|
NM_003919.3(SGCE):c.551T>C (p.Leu184Pro)
|
rs1064794321
|
|
NM_003919.3(SGCE):c.557C>G (p.Ala186Gly)
|
|
|
NM_003919.3(SGCE):c.557C>T (p.Ala186Val)
|
|
|
NM_003919.3(SGCE):c.559del (p.Ala186_Val187insTer)
|
rs1554352906
|
|
NM_003919.3(SGCE):c.55G>A (p.Gly19Ser)
|
rs767335346
|
|
NM_003919.3(SGCE):c.561G>A (p.Val187=)
|
rs1194137933
|
|
NM_003919.3(SGCE):c.561G>C (p.Val187=)
|
|
|
NM_003919.3(SGCE):c.567T>C (p.Asn189=)
|
rs1802334402
|
|
NM_003919.3(SGCE):c.571_572del (p.Trp191fs)
|
rs2116881558
|
|
NM_003919.3(SGCE):c.577C>T (p.Pro193Ser)
|
|
|
NM_003919.3(SGCE):c.579A>G (p.Pro193=)
|
|
|
NM_003919.3(SGCE):c.579del (p.Glu194fs)
|
|
|
NM_003919.3(SGCE):c.580del (p.Glu194fs)
|
rs2116881481
|
|
NM_003919.3(SGCE):c.583C>T (p.Arg195Cys)
|
|
|
NM_003919.3(SGCE):c.587T>G (p.Leu196Arg)
|
rs121908491
|
|
NM_003919.3(SGCE):c.600C>T (p.Asn200=)
|
rs2116881251
|
|
NM_003919.3(SGCE):c.604dup (p.Thr202fs)
|
rs2116881189
|
|
NM_003919.3(SGCE):c.606A>C (p.Thr202=)
|
rs148979783
|
|
NM_003919.3(SGCE):c.609G>A (p.Ser203=)
|
|
|
NM_003919.3(SGCE):c.610del (p.Ala204fs)
|
rs1584637958
|
|
NM_003919.3(SGCE):c.619_620del (p.Arg207fs)
|
rs863223285
|
|
NM_003919.3(SGCE):c.619del (p.Arg207fs)
|
rs1554352819
|
|
NM_003919.3(SGCE):c.61G>A (p.Gly21Arg)
|
|
|
NM_003919.3(SGCE):c.623_650del (p.Gly208fs)
|
rs2116880618
|
|
NM_003919.3(SGCE):c.627C>T (p.Gly209=)
|
rs1395758109
|
|
NM_003919.3(SGCE):c.632T>G (p.Val211Gly)
|
|
|
NM_003919.3(SGCE):c.636A>G (p.Pro212=)
|
|
|
NM_003919.3(SGCE):c.639dup (p.Pro214fs)
|
|
|
NM_003919.3(SGCE):c.643A>G (p.Ile215Val)
|
|
|
NM_003919.3(SGCE):c.646A>G (p.Asn216Asp)
|
rs2116880651
|
|
NM_003919.3(SGCE):c.651C>A (p.Asp217Glu)
|
rs2116880601
|
|
NM_003919.3(SGCE):c.658del (p.Glu220fs)
|
rs2116880537
|
|
NM_003919.3(SGCE):c.662+19C>T
|
|
|
NM_003919.3(SGCE):c.662+1G>C
|
|
|
NM_003919.3(SGCE):c.662+2T>A
|
rs2116880438
|
|
NM_003919.3(SGCE):c.662G>T (p.Gly221Val)
|
rs2116880447
|
|
NM_003919.3(SGCE):c.663-19G>T
|
|
|
NM_003919.3(SGCE):c.663-2A>T
|
rs2116724997
|
|
NM_003919.3(SGCE):c.663-3C>G
|
rs2116725021
|
|
NM_003919.3(SGCE):c.663-4_666del
|
rs2116724823
|
|
NM_003919.3(SGCE):c.663-5T>C
|
rs748327900
|
|
NM_003919.3(SGCE):c.663-6109_825+550del
|
|
|
NM_003919.3(SGCE):c.663-9dup
|
rs757096943
|
|
NM_003919.3(SGCE):c.663C>G (p.Gly221=)
|
rs781270494
|
|
NM_003919.3(SGCE):c.663del (p.Val222fs)
|
rs1562812370
|
|
NM_003919.3(SGCE):c.667del (p.Tyr223fs)
|
rs1057519246
|
|
NM_003919.3(SGCE):c.66A>G (p.Thr22=)
|
|
|
NM_003919.3(SGCE):c.670G>C (p.Val224Leu)
|
rs374149816
|
|
NM_003919.3(SGCE):c.674T>C (p.Met225Thr)
|
|
|
NM_003919.3(SGCE):c.677T>C (p.Val226Ala)
|
rs1799584951
|
|
NM_003919.3(SGCE):c.67C>T (p.Arg23Cys)
|
rs774045225
|
|
NM_003919.3(SGCE):c.686A>T (p.Asp229Val)
|
|
|
NM_003919.3(SGCE):c.68G>T (p.Arg23Leu)
|
|
|
NM_003919.3(SGCE):c.693G>C (p.Pro231=)
|
|
|
NM_003919.3(SGCE):c.703dup (p.Cys235fs)
|
|
|
NM_003919.3(SGCE):c.704_707del (p.Cys235fs)
|
rs2116724268
|
|
NM_003919.3(SGCE):c.709C>T (p.Arg237Ter)
|
rs398123812
|
|
NM_003919.3(SGCE):c.710G>A (p.Arg237Gln)
|
rs1217843572
|
|
NM_003919.3(SGCE):c.722A>G (p.Asn241Ser)
|
|
|
NM_003919.3(SGCE):c.723_724dup (p.Pro242fs)
|
rs2116723835
|
|
NM_003919.3(SGCE):c.724C>T (p.Pro242Ser)
|
rs1554345175
|
|
NM_003919.3(SGCE):c.727C>T (p.Gln243Ter)
|
rs1554345170
|
|
NM_003919.3(SGCE):c.729G>C (p.Gln243His)
|
|
|
NM_003919.3(SGCE):c.731A>C (p.Asn244Thr)
|
|
|
NM_003919.3(SGCE):c.733C>T (p.Gln245Ter)
|
rs1554345162
|
|
NM_003919.3(SGCE):c.734_737del (p.Gln245fs)
|
|
|
NM_003919.3(SGCE):c.736T>C (p.Leu246=)
|
|
|
NM_003919.3(SGCE):c.741A>T (p.Arg247Ser)
|
rs1799572106
|
|
NM_003919.3(SGCE):c.742T>A (p.Cys248Ser)
|
rs1584546494
|
|
NM_003919.3(SGCE):c.742dup (p.Cys248fs)
|
|
|
NM_003919.3(SGCE):c.743G>A (p.Cys248Tyr)
|
rs2116723467
|
|
NM_003919.3(SGCE):c.749A>G (p.Gln250Arg)
|
|
|
NM_003919.3(SGCE):c.751G>T (p.Glu251Ter)
|
rs2116723386
|
|
NM_003919.3(SGCE):c.754A>G (p.Met252Val)
|
|
|
NM_003919.3(SGCE):c.757G>A (p.Glu253Lys)
|
|
|
NM_003919.3(SGCE):c.770C>T (p.Thr257Ile)
|
|
|
NM_003919.3(SGCE):c.774_775del (p.Cys258_Asp259delinsTer)
|
|
|
NM_003919.3(SGCE):c.776A>T (p.Asp259Val)
|
rs1799567842
|
|
NM_003919.3(SGCE):c.777T>G (p.Asp259Glu)
|
rs2116723007
|
|
NM_003919.3(SGCE):c.778A>T (p.Lys260Ter)
|
|
|
NM_003919.3(SGCE):c.783A>G (p.Lys261=)
|
|
|
NM_003919.3(SGCE):c.783dup (p.Phe262fs)
|
rs1189469219
|
|
NM_003919.3(SGCE):c.786del (p.Arg263fs)
|
rs1584546238
|
|
NM_003919.3(SGCE):c.788G>A (p.Arg263His)
|
rs375899729
|
|
NM_003919.3(SGCE):c.790A>G (p.Thr264Ala)
|
|
|
NM_003919.3(SGCE):c.793C>T (p.Gln265Ter)
|
rs1584546131
|
|
NM_003919.3(SGCE):c.795del (p.Gln265fs)
|
rs1554345077
|
|
NM_003919.3(SGCE):c.799del (p.Tyr267fs)
|
rs1799563986
|
|
NM_003919.3(SGCE):c.802dup (p.Ile268fs)
|
rs2116722561
|
|
NM_003919.3(SGCE):c.809G>A (p.Trp270Ter)
|
|
|
NM_003919.3(SGCE):c.810G>A (p.Trp270Ter)
|
rs1562811414
|
|
NM_003919.3(SGCE):c.812G>A (p.Cys271Tyr)
|
rs372686312
|
|
NM_003919.3(SGCE):c.813C>A (p.Cys271Ter)
|
rs2116722345
|
|
NM_003919.3(SGCE):c.81C>T (p.Pro27=)
|
rs1318367897
|
|
NM_003919.3(SGCE):c.822A>T (p.Ser274=)
|
|
|
NM_003919.3(SGCE):c.825+12T>C
|
|
|
NM_003919.3(SGCE):c.825+12T>G
|
|
|
NM_003919.3(SGCE):c.825+17T>C
|
|
|
NM_003919.3(SGCE):c.825+19T>A
|
rs777735591
|
|
NM_003919.3(SGCE):c.825+1G>T
|
|
|
NM_003919.3(SGCE):c.825+1_825+2del
|
rs1554345052
|
|
NM_003919.3(SGCE):c.826-2A>G
|
rs1554343985
|
|
NM_003919.3(SGCE):c.826-4T>G
|
|
|
NM_003919.3(SGCE):c.826-6T>C
|
|
|
NM_003919.3(SGCE):c.827T>C (p.Val276Ala)
|
|
|
NM_003919.3(SGCE):c.828T>G (p.Val276=)
|
|
|
NM_003919.3(SGCE):c.830A>C (p.Asp277Ala)
|
rs1799105735
|
|
NM_003919.3(SGCE):c.831T>C (p.Asp277=)
|
|
|
NM_003919.3(SGCE):c.835_839del (p.Thr279fs)
|
rs863223283
|
|
NM_003919.3(SGCE):c.836C>T (p.Thr279Ile)
|
|
|
NM_003919.3(SGCE):c.837A>T (p.Thr279=)
|
|
|
NM_003919.3(SGCE):c.83C>T (p.Ala28Val)
|
|
|
NM_003919.3(SGCE):c.841C>T (p.Gln281Ter)
|
rs1562806242
|
|
NM_003919.3(SGCE):c.850del (p.Thr284fs)
|
rs2116695873
|
|
NM_003919.3(SGCE):c.852C>G (p.Thr284=)
|
|
|
NM_003919.3(SGCE):c.865_866insGCAGGAAGTGA (p.Ile289delinsSerArgLysTer)
|
rs2116695697
|
|
NM_003919.3(SGCE):c.868C>A (p.Arg290Ser)
|
rs576417569
|
|
NM_003919.3(SGCE):c.868C>G (p.Arg290Gly)
|
|
|
NM_003919.3(SGCE):c.871G>A (p.Gly291Arg)
|
|
|
NM_003919.3(SGCE):c.874G>C (p.Glu292Gln)
|
rs1799100104
|
|
NM_003919.3(SGCE):c.876G>A (p.Glu292=)
|
|
|
NM_003919.3(SGCE):c.878G>C (p.Gly293Ala)
|
|
|
NM_003919.3(SGCE):c.880A>T (p.Ile294Phe)
|
|
|
NM_003919.3(SGCE):c.880dup (p.Ile294fs)
|
rs1562805960
|
|
NM_003919.3(SGCE):c.884dup (p.Leu295fs)
|
rs863223284
|
|
NM_003919.3(SGCE):c.890A>G (p.Asp297Gly)
|
|
|
NM_003919.3(SGCE):c.895G>T (p.Gly299Ter)
|
rs765792098
|
|
NM_003919.3(SGCE):c.896dup (p.Glu300fs)
|
|
|
NM_003919.3(SGCE):c.898_899del (p.Glu300fs)
|
|
|
NM_003919.3(SGCE):c.898_925del (p.Glu300fs)
|
|
|
NM_003919.3(SGCE):c.89C>G (p.Thr30Ser)
|
|
|
NM_003919.3(SGCE):c.903C>A (p.Tyr301Ter)
|
rs1322313531
|
|
NM_003919.3(SGCE):c.904_908dup (p.Pro304fs)
|
rs2116694965
|
|
NM_003919.3(SGCE):c.906A>C (p.Lys302Asn)
|
|
|
NM_003919.3(SGCE):c.907C>T (p.Pro303Ser)
|
|
|
NM_003919.3(SGCE):c.912T>G (p.Pro304=)
|
rs1463065030
|
|
NM_003919.3(SGCE):c.927A>T (p.Lys309Asn)
|
|
|
NM_003919.3(SGCE):c.933A>C (p.Arg311Ser)
|
|
|
NM_003919.3(SGCE):c.934G>A (p.Asp312Asn)
|
|
|
NM_003919.3(SGCE):c.938A>G (p.Tyr313Cys)
|
rs1208881777
|
|
NM_003919.3(SGCE):c.941A>C (p.Tyr314Ser)
|
rs1799081982
|
|
NM_003919.3(SGCE):c.942C>A (p.Tyr314Ter)
|
rs2116694543
|
|
NM_003919.3(SGCE):c.942C>G (p.Tyr314Ter)
|
rs2116694543
|
|
NM_003919.3(SGCE):c.943A>G (p.Thr315Ala)
|
rs2116694516
|
|
NM_003919.3(SGCE):c.944C>T (p.Thr315Met)
|
|
|
NM_003919.3(SGCE):c.946del (p.Asp316fs)
|
|
|
NM_003919.3(SGCE):c.956T>C (p.Ile319Thr)
|
rs1799078606
|
|
NM_003919.3(SGCE):c.961C>A (p.Leu321Met)
|
rs1562805321
|
|
NM_003919.3(SGCE):c.962T>C (p.Leu321Pro)
|
rs1799076594
|
|
NM_003919.3(SGCE):c.974del (p.Ser325fs)
|
rs1584531843
|
|
NM_003919.3(SGCE):c.996T>C (p.Phe332=)
|
|
|
NM_003919.3(SGCE):c.998T>C (p.Leu333Pro)
|
|
|
NM_004606.5(TAF1):c.1474A>T (p.Met492Leu)
|
rs2033909793
|
|
NM_004606.5(TAF1):c.1632G>T (p.Gly544=)
|
|
|
NM_004606.5(TAF1):c.2551G>A (p.Ala851Thr)
|
|
|
NM_004606.5(TAF1):c.3796G>A (p.Gly1266Arg)
|
rs2148443174
|
|
NM_004606.5(TAF1):c.4427A>C (p.Asp1476Ala)
|
rs1060499594
|
|
NM_006516.4(SLC2A1):c.*1079T>G
|
rs1426402573
|
|
NM_006516.4(SLC2A1):c.*1081T>A
|
rs886046333
|
|
NM_006516.4(SLC2A1):c.*1147G>C
|
rs886046332
|
|
NM_006516.4(SLC2A1):c.*1337A>G
|
rs113441673
|
|
NM_006516.4(SLC2A1):c.*1564C>T
|
rs1057515570
|
|
NM_006516.4(SLC2A1):c.*1611T>C
|
rs1057515457
|
|
NM_006516.4(SLC2A1):c.*216C>T
|
rs1643431578
|
|
NM_006516.4(SLC2A1):c.*462G>C
|
rs4658
|
|
NM_006516.4(SLC2A1):c.*92G>A
|
rs1266657991
|
|
NM_006516.4(SLC2A1):c.-202G>C
|
rs1016572946
|
|
NM_006516.4(SLC2A1):c.1006C>G (p.Leu336Val)
|
rs755946345
|
|
NM_006516.4(SLC2A1):c.1011C>T (p.His337=)
|
rs2229681
|
|
NM_006516.4(SLC2A1):c.1012C>T (p.Leu338Phe)
|
|
|
NM_006516.4(SLC2A1):c.101A>G (p.Asn34Ser)
|
rs80359812
|
|
NM_006516.4(SLC2A1):c.101A>T (p.Asn34Ile)
|
rs80359812
|
|
NM_006516.4(SLC2A1):c.1023C>T (p.Leu341=)
|
rs143588685
|
|
NM_006516.4(SLC2A1):c.1028dup (p.Met344fs)
|
rs1643457017
|
|
NM_006516.4(SLC2A1):c.1043_1044insT (p.Ile349fs)
|
rs2124447951
|
|
NM_006516.4(SLC2A1):c.1075-14G>A
|
rs777450540
|
|
NM_006516.4(SLC2A1):c.1084C>T (p.Pro362Ser)
|
|
|
NM_006516.4(SLC2A1):c.1109T>C (p.Val370Ala)
|
rs796053259
|
|
NM_006516.4(SLC2A1):c.1126G>A (p.Val376Met)
|
rs796053260
|
|
NM_006516.4(SLC2A1):c.1130C>A (p.Ala377Asp)
|
|
|
NM_006516.4(SLC2A1):c.1135_1147del (p.Phe379fs)
|
rs2124446490
|
|
NM_006516.4(SLC2A1):c.1136T>C (p.Phe379Ser)
|
rs2124446500
|
|
NM_006516.4(SLC2A1):c.1141del (p.Val381fs)
|
|
|
NM_006516.4(SLC2A1):c.1147C>T (p.Pro383Ser)
|
rs1643442833
|
|
NM_006516.4(SLC2A1):c.115-2A>C
|
rs2124450950
|
|
NM_006516.4(SLC2A1):c.1155C>T (p.Pro385=)
|
rs76860965
|
|
NM_006516.4(SLC2A1):c.1192G>A (p.Gly398Ser)
|
rs1027810691
|
|
NM_006516.4(SLC2A1):c.1198C>T (p.Arg400Cys)
|
rs796053263
|
|
NM_006516.4(SLC2A1):c.1206_1215dup (p.Val406fs)
|
rs2124446305
|
|
NM_006516.4(SLC2A1):c.121G>A (p.Glu41Lys)
|
rs769722007
|
|
NM_006516.4(SLC2A1):c.1223G>A (p.Gly408Asp)
|
rs1570590876
|
|
NM_006516.4(SLC2A1):c.1260G>A (p.Met420Ile)
|
rs2124446216
|
|
NM_006516.4(SLC2A1):c.1278+12del
|
rs368437445
|
|
NM_006516.4(SLC2A1):c.1278+31_1278+32insCTCACCATTT
|
rs2124446051
|
|
NM_006516.4(SLC2A1):c.1286G>C (p.Cys429Ser)
|
rs796053274
|
|
NM_006516.4(SLC2A1):c.1287_1288del (p.Cys429fs)
|
rs2124445661
|
|
NM_006516.4(SLC2A1):c.1300T>G (p.Phe434Val)
|
rs1570590528
|
|
NM_006516.4(SLC2A1):c.132C>T (p.Tyr44=)
|
rs886046341
|
|
NM_006516.4(SLC2A1):c.1337T>A (p.Ile446Asn)
|
|
|
NM_006516.4(SLC2A1):c.1342A>G (p.Thr448Ala)
|
|
|
NM_006516.4(SLC2A1):c.1348T>A (p.Phe450Ile)
|
rs1216296247
|
|
NM_006516.4(SLC2A1):c.1362G>A (p.Glu454=)
|
rs1469205406
|
|
NM_006516.4(SLC2A1):c.1372C>T (p.Arg458Trp)
|
rs13306758
|
|
NM_006516.4(SLC2A1):c.1408G>A (p.Gly470Arg)
|
rs572648977
|
|
NM_006516.4(SLC2A1):c.1408G>T (p.Gly470Trp)
|
rs572648977
|
|
NM_006516.4(SLC2A1):c.141A>T (p.Thr47=)
|
rs150863093
|
|
NM_006516.4(SLC2A1):c.1436C>A (p.Pro479His)
|
|
|
NM_006516.4(SLC2A1):c.1450C>T (p.His484Tyr)
|
rs2124445324
|
|
NM_006516.4(SLC2A1):c.158G>T (p.Gly53Val)
|
rs796053246
|
|
NM_006516.4(SLC2A1):c.161dup (p.Ser55fs)
|
|
|
NM_006516.4(SLC2A1):c.16A>T (p.Lys6Ter)
|
|
|
NM_006516.4(SLC2A1):c.18+5439G>T
|
rs1570607542
|
|
NM_006516.4(SLC2A1):c.19-2A>G
|
rs796053272
|
|
NM_006516.4(SLC2A1):c.194G>A (p.Trp65Ter)
|
|
|
NM_006516.4(SLC2A1):c.1A>G (p.Met1Val)
|
rs2124478725
|
|
NM_006516.4(SLC2A1):c.218C>T (p.Ser73Phe)
|
rs1643484697
|
|
NM_006516.4(SLC2A1):c.250G>A (p.Gly84Ser)
|
|
|
NM_006516.4(SLC2A1):c.26C>T (p.Thr9Met)
|
rs1570601100
|
|
NM_006516.4(SLC2A1):c.274C>A (p.Arg92=)
|
rs202060209
|
|
NM_006516.4(SLC2A1):c.274C>T (p.Arg92Trp)
|
rs202060209
|
|
NM_006516.4(SLC2A1):c.275G>A (p.Arg92Gln)
|
|
|
NM_006516.4(SLC2A1):c.279G>A (p.Arg93=)
|
rs1392755923
|
|
NM_006516.4(SLC2A1):c.283_284delinsAT (p.Ser95Ile)
|
rs267607060
|
|
NM_006516.4(SLC2A1):c.287T>C (p.Met96Thr)
|
rs1643481875
|
|
NM_006516.4(SLC2A1):c.293del (p.Met98fs)
|
rs1643481831
|
|
NM_006516.4(SLC2A1):c.29del (p.Gly10fs)
|
rs2124461926
|
|
NM_006516.4(SLC2A1):c.312C>T (p.Phe104=)
|
rs76672402
|
|
NM_006516.4(SLC2A1):c.313G>C (p.Val105Leu)
|
rs577667739
|
|
NM_006516.4(SLC2A1):c.354C>T (p.Ser118=)
|
rs1393465480
|
|
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys)
|
rs80359818
|
|
NM_006516.4(SLC2A1):c.377G>A (p.Arg126His)
|
rs80359816
|
|
NM_006516.4(SLC2A1):c.37dup (p.Met13fs)
|
rs2124461913
|
|
NM_006516.4(SLC2A1):c.400G>A (p.Gly134Ser)
|
rs1057518953
|
|
NM_006516.4(SLC2A1):c.411A>G (p.Thr137=)
|
rs753500924
|
|
NM_006516.4(SLC2A1):c.424A>C (p.Met142Leu)
|
|
|
NM_006516.4(SLC2A1):c.439G>A (p.Val147Met)
|
rs760130033
|
|
NM_006516.4(SLC2A1):c.493G>A (p.Val165Ile)
|
rs1057520545
|
|
NM_006516.4(SLC2A1):c.505_507del (p.Leu169del)
|
rs80359832
|
|
NM_006516.4(SLC2A1):c.517-1G>C
|
rs869312673
|
|
NM_006516.4(SLC2A1):c.523G>A (p.Gly175Ser)
|
rs1085308009
|
|
NM_006516.4(SLC2A1):c.524G>T (p.Gly175Val)
|
rs2124449452
|
|
NM_006516.4(SLC2A1):c.554T>C (p.Leu185Pro)
|
rs1570592942
|
|
NM_006516.4(SLC2A1):c.586C>G (p.Pro196Ala)
|
rs2124449385
|
|
NM_006516.4(SLC2A1):c.587C>T (p.Pro196Leu)
|
rs771352226
|
|
NM_006516.4(SLC2A1):c.588G>A (p.Pro196=)
|
rs2229682
|
|
NM_006516.4(SLC2A1):c.630T>A (p.Ser210Arg)
|
rs2124449313
|
|
NM_006516.4(SLC2A1):c.634C>T (p.Arg212Cys)
|
rs387907312
|
|
NM_006516.4(SLC2A1):c.635del (p.Arg212fs)
|
rs2124449287
|
|
NM_006516.4(SLC2A1):c.646A>G (p.Ile216Val)
|
rs2124449273
|
|
NM_006516.4(SLC2A1):c.667C>T (p.Arg223Trp)
|
rs796053248
|
|
NM_006516.4(SLC2A1):c.679+7G>C
|
rs13306757
|
|
NM_006516.4(SLC2A1):c.679+7G>T
|
rs13306757
|
|
NM_006516.4(SLC2A1):c.684A>G (p.Leu228=)
|
rs2124449097
|
|
NM_006516.4(SLC2A1):c.692T>C (p.Leu231Pro)
|
rs2124449089
|
|
NM_006516.4(SLC2A1):c.724C>T (p.Gln242Ter)
|
rs794729221
|
|
NM_006516.4(SLC2A1):c.736_739del (p.Glu246fs)
|
rs1570592604
|
|
NM_006516.4(SLC2A1):c.739G>T (p.Glu247Ter)
|
rs2124449015
|
|
NM_006516.4(SLC2A1):c.73C>A (p.Gln25Lys)
|
rs1165759782
|
|
NM_006516.4(SLC2A1):c.750G>A (p.Gln250=)
|
rs1553156067
|
|
NM_006516.4(SLC2A1):c.757C>T (p.Arg253Trp)
|
rs1451575059
|
|
NM_006516.4(SLC2A1):c.75G>A (p.Gln25=)
|
rs1557651193
|
|
NM_006516.4(SLC2A1):c.763AAG[1] (p.Lys256del)
|
rs1557645931
|
|
NM_006516.4(SLC2A1):c.766_767delinsGT (p.Lys256Val)
|
rs80359822
|
|
NM_006516.4(SLC2A1):c.791G>A (p.Arg264His)
|
rs758919432
|
|
NM_006516.4(SLC2A1):c.806G>A (p.Arg269His)
|
rs1411827478
|
|
NM_006516.4(SLC2A1):c.823G>A (p.Ala275Thr)
|
rs121909740
|
|
NM_006516.4(SLC2A1):c.843_854del (p.Gln282_Ser285del)
|
rs2124448824
|
|
NM_006516.4(SLC2A1):c.844_855del (p.Gln282_Ser285del)
|
rs1553156047
|
|
NM_006516.4(SLC2A1):c.851T>C (p.Leu284Pro)
|
rs2124448826
|
|
NM_006516.4(SLC2A1):c.852G>A (p.Leu284=)
|
rs1553156049
|
|
NM_006516.4(SLC2A1):c.876_878dup (p.Tyr293_Ser294insTyr)
|
rs2124448406
|
|
NM_006516.4(SLC2A1):c.902C>G (p.Ala301Gly)
|
rs1425773776
|
|
NM_006516.4(SLC2A1):c.929C>T (p.Thr310Ile)
|
rs80359824
|
|
NM_006516.4(SLC2A1):c.938C>T (p.Ser313Phe)
|
rs794727870
|
|
NM_006516.4(SLC2A1):c.940G>A (p.Gly314Ser)
|
rs121909739
|
|
NM_006516.4(SLC2A1):c.945C>G (p.Ile315Met)
|
rs780528770
|
|
NM_006516.4(SLC2A1):c.945C>T (p.Ile315=)
|
rs780528770
|
|
NM_006516.4(SLC2A1):c.972+20C>G
|
rs781545555
|
|
NM_006516.4(SLC2A1):c.972+7C>G
|
rs1553155998
|
|
NM_006516.4(SLC2A1):c.972G>A (p.Ser324=)
|
rs796053254
|
|
NM_006516.4(SLC2A1):c.988C>T (p.Arg330Ter)
|
|
|
NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp)
|
rs80359825
|
|
NM_006516.4(SLC2A1):c.998G>A (p.Arg333Gln)
|
rs1553155986
|
|
NM_015488.4(PNKD):c.-65G>A
|
rs570619432
|
|
NM_015488.5(PNKD):c.*1305A>G
|
rs1694825559
|
|
NM_015488.5(PNKD):c.*181G>C
|
rs73088173
|
|
NM_015488.5(PNKD):c.*212G>A
|
rs989494170
|
|
NM_015488.5(PNKD):c.*679C>T
|
rs1694809581
|
|
NM_015488.5(PNKD):c.*680_*681dup
|
rs397775550
|
|
NM_015488.5(PNKD):c.1006G>A (p.Glu336Lys)
|
|
|
NM_015488.5(PNKD):c.1009C>T (p.Arg337Cys)
|
rs1694784083
|
|
NM_015488.5(PNKD):c.1012T>C (p.Ser338Pro)
|
|
|
NM_015488.5(PNKD):c.1013_1015del (p.Ser338del)
|
|
|
NM_015488.5(PNKD):c.101C>G (p.Ser34Cys)
|
rs146016925
|
|
NM_015488.5(PNKD):c.1022dup (p.Phe342fs)
|
|
|
NM_015488.5(PNKD):c.1023G>A (p.Pro341=)
|
rs368559097
|
|
NM_015488.5(PNKD):c.1023G>T (p.Pro341=)
|
|
|
NM_015488.5(PNKD):c.1036C>T (p.His346Tyr)
|
|
|
NM_015488.5(PNKD):c.1040G>A (p.Cys347Tyr)
|
|
|
NM_015488.5(PNKD):c.1046C>T (p.Ala349Val)
|
|
|
NM_015488.5(PNKD):c.1052A>G (p.Gln351Arg)
|
|
|
NM_015488.5(PNKD):c.1057G>T (p.Ala353Ser)
|
|
|
NM_015488.5(PNKD):c.1068G>C (p.Pro356=)
|
rs139193832
|
|
NM_015488.5(PNKD):c.1072C>T (p.Pro358Ser)
|
|
|
NM_015488.5(PNKD):c.1073del (p.Pro358fs)
|
|
|
NM_015488.5(PNKD):c.1078C>T (p.Pro360Ser)
|
|
|
NM_015488.5(PNKD):c.1079C>T (p.Pro360Leu)
|
|
|
NM_015488.5(PNKD):c.1081A>G (p.Thr361Ala)
|
|
|
NM_015488.5(PNKD):c.1091A>G (p.Asp364Gly)
|
|
|
NM_015488.5(PNKD):c.1095C>T (p.Asp365=)
|
|
|
NM_015488.5(PNKD):c.1102C>T (p.Arg368Trp)
|
rs185906233
|
|
NM_015488.5(PNKD):c.1108C>T (p.Gln370Ter)
|
|
|
NM_015488.5(PNKD):c.1115T>C (p.Leu372Pro)
|
rs1694789383
|
|
NM_015488.5(PNKD):c.1115T>G (p.Leu372Arg)
|
|
|
NM_015488.5(PNKD):c.1117G>A (p.Glu373Lys)
|
|
|
NM_015488.5(PNKD):c.112A>C (p.Thr38Pro)
|
|
|
NM_015488.5(PNKD):c.1135A>T (p.Lys379Ter)
|
rs1694790443
|
|
NM_015488.5(PNKD):c.113C>T (p.Thr38Ile)
|
|
|
NM_015488.5(PNKD):c.1140_1145del (p.Met381_His382del)
|
rs576363906
|
|
NM_015488.5(PNKD):c.1148del (p.Lys383fs)
|
rs1574724140
|
|
NM_015488.5(PNKD):c.1150A>T (p.Ser384Cys)
|
rs765841531
|
|
NM_015488.5(PNKD):c.1152C>T (p.Ser384=)
|
|
|
NM_015488.5(PNKD):c.115C>T (p.Arg39Trp)
|
|
|
NM_015488.5(PNKD):c.11T>C (p.Val4Ala)
|
|
|
NM_015488.5(PNKD):c.122T>C (p.Leu41Pro)
|
|
|
NM_015488.5(PNKD):c.129C>A (p.Ser43Arg)
|
|
|
NM_015488.5(PNKD):c.134G>C (p.Ser45Thr)
|
|
|
NM_015488.5(PNKD):c.138C>T (p.Ser46=)
|
|
|
NM_015488.5(PNKD):c.141A>G (p.Pro47=)
|
|
|
NM_015488.5(PNKD):c.147_151del (p.Lys50fs)
|
|
|
NM_015488.5(PNKD):c.148A>T (p.Lys50Ter)
|
rs780594684
|
|
NM_015488.5(PNKD):c.159T>C (p.Pro53=)
|
|
|
NM_015488.5(PNKD):c.15A>G (p.Val5=)
|
rs2106176403
|
|
NM_015488.5(PNKD):c.168A>G (p.Leu56=)
|
rs2106177655
|
|
NM_015488.5(PNKD):c.174G>T (p.Pro58=)
|
rs1427711767
|
|
NM_015488.5(PNKD):c.17C>T (p.Ala6Val)
|
rs1559495483
|
|
NM_015488.5(PNKD):c.180G>A (p.Leu60=)
|
rs1690829634
|
|
NM_015488.5(PNKD):c.185A>G (p.Tyr62Cys)
|
rs2106177691
|
|
NM_015488.5(PNKD):c.196A>G (p.Lys66Glu)
|
rs2106177705
|
|
NM_015488.5(PNKD):c.203G>C (p.Gly68Ala)
|
|
|
NM_015488.5(PNKD):c.203G>T (p.Gly68Val)
|
|
|
NM_015488.5(PNKD):c.20C>T (p.Ala7Val)
|
rs121434512
|
|
NM_015488.5(PNKD):c.211C>G (p.Pro71Ala)
|
|
|
NM_015488.5(PNKD):c.218A>G (p.Lys73Arg)
|
|
|
NM_015488.5(PNKD):c.220G>T (p.Ala74Ser)
|
rs1690830852
|
|
NM_015488.5(PNKD):c.226G>C (p.Gly76Arg)
|
rs1690831012
|
|
NM_015488.5(PNKD):c.229C>G (p.Leu77Val)
|
rs1004791945
|
|
NM_015488.5(PNKD):c.22A>G (p.Thr8Ala)
|
|
|
NM_015488.5(PNKD):c.230T>C (p.Leu77Pro)
|
rs752738498
|
|
NM_015488.5(PNKD):c.232_236+3del
|
rs1690832713
|
|
NM_015488.5(PNKD):c.233C>T (p.Ala78Val)
|
rs1201792156
|
|
NM_015488.5(PNKD):c.236+15C>A
|
|
|
NM_015488.5(PNKD):c.236+15C>G
|
|
|
NM_015488.5(PNKD):c.236+18C>T
|
rs369983094
|
|
NM_015488.5(PNKD):c.236+6T>C
|
rs1481240008
|
|
NM_015488.5(PNKD):c.236+8T>C
|
|
|
NM_015488.5(PNKD):c.237-10C>A
|
|
|
NM_015488.5(PNKD):c.237-11T>C
|
|
|
NM_015488.5(PNKD):c.237-14C>T
|
|
|
NM_015488.5(PNKD):c.237-4C>T
|
|
|
NM_015488.5(PNKD):c.237-8707G>T
|
|
|
NM_015488.5(PNKD):c.243C>G (p.Ser81Arg)
|
rs540125259
|
|
NM_015488.5(PNKD):c.251C>T (p.Thr84Ile)
|
|
|
NM_015488.5(PNKD):c.257C>T (p.Thr86Ile)
|
|
|
NM_015488.5(PNKD):c.266G>C (p.Gly89Ala)
|
|
|
NM_015488.5(PNKD):c.268dup (p.Tyr90fs)
|
rs2106292758
|
|
NM_015488.5(PNKD):c.26C>T (p.Ala9Val)
|
rs121434511
|
|
NM_015488.5(PNKD):c.273C>T (p.Leu91=)
|
rs550380646
|
|
NM_015488.5(PNKD):c.27G>A (p.Ala9=)
|
|
|
NM_015488.5(PNKD):c.280C>A (p.Arg94=)
|
rs754138242
|
|
NM_015488.5(PNKD):c.292C>A (p.Arg98Ser)
|
|
|
NM_015488.5(PNKD):c.293G>A (p.Arg98His)
|
rs201495280
|
|
NM_015488.5(PNKD):c.293G>T (p.Arg98Leu)
|
rs201495280
|
|
NM_015488.5(PNKD):c.2T>G (p.Met1Arg)
|
rs775653461
|
|
NM_015488.5(PNKD):c.302G>C (p.Arg101Pro)
|
rs368934552
|
|
NM_015488.5(PNKD):c.309C>A (p.Arg103=)
|
rs2106292815
|
|
NM_015488.5(PNKD):c.311A>T (p.Tyr104Phe)
|
|
|
NM_015488.5(PNKD):c.312C>A (p.Tyr104Ter)
|
|
|
NM_015488.5(PNKD):c.312_316del (p.Tyr104_Lys106delinsTer)
|
|
|
NM_015488.5(PNKD):c.314C>T (p.Pro105Leu)
|
|
|
NM_015488.5(PNKD):c.318A>T (p.Lys106Asn)
|
rs1421249273
|
|
NM_015488.5(PNKD):c.320G>C (p.Gly107Ala)
|
rs2106292830
|
|
NM_015488.5(PNKD):c.320G>T (p.Gly107Val)
|
rs2106292830
|
|
NM_015488.5(PNKD):c.322C>A (p.His108Asn)
|
rs1694617621
|
|
NM_015488.5(PNKD):c.327G>A (p.Ser109=)
|
rs766828848
|
|
NM_015488.5(PNKD):c.333C>G (p.Thr111=)
|
rs1239020217
|
|
NM_015488.5(PNKD):c.33G>A (p.Lys11=)
|
rs1553654482
|
|
NM_015488.5(PNKD):c.348C>G (p.Phe116Leu)
|
rs1437287362
|
|
NM_015488.5(PNKD):c.352+13_352+15del
|
|
|
NM_015488.5(PNKD):c.352+18C>T
|
|
|
NM_015488.5(PNKD):c.353-16C>A
|
rs2106293104
|
|
NM_015488.5(PNKD):c.353-2A>G
|
|
|
NM_015488.5(PNKD):c.353-6C>T
|
rs1694625432
|
|
NM_015488.5(PNKD):c.353-9T>G
|
rs2106293111
|
|
NM_015488.5(PNKD):c.356T>C (p.Val119Ala)
|
|
|
NM_015488.5(PNKD):c.359A>G (p.Lys120Arg)
|
|
|
NM_015488.5(PNKD):c.35G>A (p.Gly12Asp)
|
|
|
NM_015488.5(PNKD):c.368C>T (p.Pro123Leu)
|
rs1694626257
|
|
NM_015488.5(PNKD):c.369del (p.Ile124fs)
|
|
|
NM_015488.5(PNKD):c.369dup (p.Ile124fs)
|
|
|
NM_015488.5(PNKD):c.36C>T (p.Gly12=)
|
|
|
NM_015488.5(PNKD):c.371T>A (p.Ile124Asn)
|
rs762861678
|
|
NM_015488.5(PNKD):c.371T>C (p.Ile124Thr)
|
rs762861678
|
|
NM_015488.5(PNKD):c.375T>C (p.Pro125=)
|
rs940846331
|
|
NM_015488.5(PNKD):c.382T>C (p.Ser128Pro)
|
|
|
NM_015488.5(PNKD):c.384G>C (p.Ser128=)
|
|
|
NM_015488.5(PNKD):c.392A>G (p.Tyr131Cys)
|
|
|
NM_015488.5(PNKD):c.408C>G (p.Ile136Met)
|
rs763052723
|
|
NM_015488.5(PNKD):c.408C>T (p.Ile136=)
|
|
|
NM_015488.5(PNKD):c.40G>A (p.Gly14Arg)
|
rs1690790020
|
|
NM_015488.5(PNKD):c.414C>G (p.Thr138=)
|
rs2106293207
|
|
NM_015488.5(PNKD):c.415C>G (p.Gln139Glu)
|
|
|
NM_015488.5(PNKD):c.415C>T (p.Gln139Ter)
|
rs372675235
|
|
NM_015488.5(PNKD):c.427G>A (p.Ala143Thr)
|
rs754958157
|
|
NM_015488.5(PNKD):c.427G>C (p.Ala143Pro)
|
|
|
NM_015488.5(PNKD):c.427G>T (p.Ala143Ser)
|
|
|
NM_015488.5(PNKD):c.428C>G (p.Ala143Gly)
|
|
|
NM_015488.5(PNKD):c.42G>A (p.Gly14=)
|
rs955860203
|
|
NM_015488.5(PNKD):c.435T>C (p.Ala145=)
|
|
|
NM_015488.5(PNKD):c.436G>A (p.Val146Met)
|
|
|
NM_015488.5(PNKD):c.43dup (p.Ala15fs)
|
rs777779692
|
|
NM_015488.5(PNKD):c.441C>G (p.Asp147Glu)
|
|
|
NM_015488.5(PNKD):c.442C>A (p.Pro148Thr)
|
rs545078283
|
|
NM_015488.5(PNKD):c.442C>G (p.Pro148Ala)
|
rs545078283
|
|
NM_015488.5(PNKD):c.448G>T (p.Asp150Tyr)
|
|
|
NM_015488.5(PNKD):c.453T>G (p.Pro151=)
|
|
|
NM_015488.5(PNKD):c.45G>A (p.Ala15=)
|
|
|
NM_015488.5(PNKD):c.462G>A (p.Val154=)
|
rs2106293300
|
|
NM_015488.5(PNKD):c.465+2T>G
|
rs1230004320
|
|
NM_015488.5(PNKD):c.465+3G>A
|
rs1313298373
|
|
NM_015488.5(PNKD):c.465G>C (p.Gln155His)
|
|
|
NM_015488.5(PNKD):c.466-10T>C
|
rs1694647158
|
|
NM_015488.5(PNKD):c.466-15T>A
|
|
|
NM_015488.5(PNKD):c.466-5C>G
|
rs745435962
|
|
NM_015488.5(PNKD):c.466-7C>T
|
rs780814768
|
|
NM_015488.5(PNKD):c.466-9C>G
|
|
|
NM_015488.5(PNKD):c.46A>G (p.Arg16Gly)
|
rs934430255
|
|
NM_015488.5(PNKD):c.471C>T (p.Ser157=)
|
|
|
NM_015488.5(PNKD):c.479A>G (p.Lys160Arg)
|
rs1694648277
|
|
NM_015488.5(PNKD):c.47G>T (p.Arg16Ile)
|
rs1553654496
|
|
NM_015488.5(PNKD):c.481G>A (p.Glu161Lys)
|
|
|
NM_015488.5(PNKD):c.48A>G (p.Arg16=)
|
|
|
NM_015488.5(PNKD):c.490A>G (p.Thr164Ala)
|
rs2106294008
|
|
NM_015488.5(PNKD):c.49_53del (p.Asn17fs)
|
|
|
NM_015488.5(PNKD):c.500C>T (p.Ala167Val)
|
rs2106294018
|
|
NM_015488.5(PNKD):c.505C>A (p.Leu169Met)
|
rs2106294020
|
|
NM_015488.5(PNKD):c.524+11C>T
|
|
|
NM_015488.5(PNKD):c.524+17T>C
|
|
|
NM_015488.5(PNKD):c.524+8G>T
|
rs1464064363
|
|
NM_015488.5(PNKD):c.525-11C>A
|
|
|
NM_015488.5(PNKD):c.525-18G>A
|
rs956409257
|
|
NM_015488.5(PNKD):c.526G>A (p.Asp176Asn)
|
rs1553674143
|
|
NM_015488.5(PNKD):c.528C>A (p.Asp176Glu)
|
|
|
NM_015488.5(PNKD):c.531C>T (p.His177=)
|
rs2106294834
|
|
NM_015488.5(PNKD):c.532A>C (p.Ser178Arg)
|
|
|
NM_015488.5(PNKD):c.533G>C (p.Ser178Thr)
|
|
|
NM_015488.5(PNKD):c.536G>T (p.Gly179Val)
|
rs1694676356
|
|
NM_015488.5(PNKD):c.538G>A (p.Gly180Arg)
|
rs1694676419
|
|
NM_015488.5(PNKD):c.53C>T (p.Ala18Val)
|
|
|
NM_015488.5(PNKD):c.545G>A (p.Arg182His)
|
|
|
NM_015488.5(PNKD):c.550C>T (p.Leu184Phe)
|
|
|
NM_015488.5(PNKD):c.554G>C (p.Ser185Thr)
|
|
|
NM_015488.5(PNKD):c.556C>T (p.Arg186Trp)
|
|
|
NM_015488.5(PNKD):c.55C>G (p.Arg19Gly)
|
rs1690790863
|
|
NM_015488.5(PNKD):c.55C>T (p.Arg19Cys)
|
rs1690790863
|
|
NM_015488.5(PNKD):c.55dup (p.Arg19fs)
|
|
|
NM_015488.5(PNKD):c.560G>A (p.Arg187Gln)
|
rs141506076
|
|
NM_015488.5(PNKD):c.566G>T (p.Arg189Leu)
|
rs199987826
|
|
NM_015488.5(PNKD):c.568G>A (p.Asp190Asn)
|
rs1256960832
|
|
NM_015488.5(PNKD):c.568G>T (p.Asp190Tyr)
|
|
|
NM_015488.5(PNKD):c.575G>A (p.Arg192Gln)
|
|
|
NM_015488.5(PNKD):c.576G>A (p.Arg192=)
|
|
|
NM_015488.5(PNKD):c.579G>A (p.Val193=)
|
rs1378240041
|
|
NM_015488.5(PNKD):c.582C>T (p.Tyr194=)
|
|
|
NM_015488.5(PNKD):c.585del (p.Ser196fs)
|
rs761519363
|
|
NM_015488.5(PNKD):c.587G>C (p.Ser196Thr)
|
rs1341663022
|
|
NM_015488.5(PNKD):c.595G>A (p.Asp199Asn)
|
rs1694679310
|
|
NM_015488.5(PNKD):c.599G>C (p.Gly200Ala)
|
|
|
NM_015488.5(PNKD):c.609C>T (p.Tyr203=)
|
|
|
NM_015488.5(PNKD):c.610C>G (p.Leu204Val)
|
|
|
NM_015488.5(PNKD):c.612C>T (p.Leu204=)
|
rs1574720024
|
|
NM_015488.5(PNKD):c.614C>A (p.Thr205Asn)
|
|
|
NM_015488.5(PNKD):c.617+17G>A
|
|
|
NM_015488.5(PNKD):c.617+5G>C
|
rs1553674205
|
|
NM_015488.5(PNKD):c.618-2A>G
|
|
|
NM_015488.5(PNKD):c.618-7T>G
|
|
|
NM_015488.5(PNKD):c.628C>A (p.His210Asn)
|
rs886055620
|
|
NM_015488.5(PNKD):c.630T>G (p.His210Gln)
|
rs1694691035
|
|
NM_015488.5(PNKD):c.637G>A (p.Val213Met)
|
|
|
NM_015488.5(PNKD):c.641_649del (p.Val214_Val216del)
|
rs1694691273
|
|
NM_015488.5(PNKD):c.652C>T (p.Arg218Trp)
|
rs34745867
|
|
NM_015488.5(PNKD):c.658C>G (p.Gln220Glu)
|
|
|
NM_015488.5(PNKD):c.663C>G (p.Ile221Met)
|
rs749437540
|
|
NM_015488.5(PNKD):c.667G>A (p.Ala223Thr)
|
|
|
NM_015488.5(PNKD):c.67+12G>A
|
|
|
NM_015488.5(PNKD):c.67+16C>G
|
|
|
NM_015488.5(PNKD):c.67+19G>C
|
rs1357502016
|
|
NM_015488.5(PNKD):c.67+1G>C
|
rs1287473807
|
|
NM_015488.5(PNKD):c.67+3A>G
|
rs1690791696
|
|
NM_015488.5(PNKD):c.68-14A>G
|
|
|
NM_015488.5(PNKD):c.692A>C (p.Gln231Pro)
|
rs1694693946
|
|
NM_015488.5(PNKD):c.693del (p.Gly232fs)
|
rs773192502
|
|
NM_015488.5(PNKD):c.696C>A (p.Gly232=)
|
|
|
NM_015488.5(PNKD):c.699T>C (p.His233=)
|
|
|
NM_015488.5(PNKD):c.6G>T (p.Ala2=)
|
rs2106176364
|
|
NM_015488.5(PNKD):c.716A>T (p.Asp239Val)
|
rs1553674341
|
|
NM_015488.5(PNKD):c.718G>A (p.Gly240Arg)
|
|
|
NM_015488.5(PNKD):c.724C>T (p.Pro242Ser)
|
rs1694695921
|
|
NM_015488.5(PNKD):c.733G>T (p.Gly245Cys)
|
rs769143232
|
|
NM_015488.5(PNKD):c.738C>T (p.Pro246=)
|
|
|
NM_015488.5(PNKD):c.745C>T (p.Leu249Phe)
|
rs1199556893
|
|
NM_015488.5(PNKD):c.758A>T (p.Asp253Val)
|
|
|
NM_015488.5(PNKD):c.768C>A (p.Phe256Leu)
|
|
|
NM_015488.5(PNKD):c.76G>A (p.Ala26Thr)
|
rs1222343109
|
|
NM_015488.5(PNKD):c.76_103del (p.Ala26fs)
|
rs780123062
|
|
NM_015488.5(PNKD):c.770T>C (p.Leu257Pro)
|
|
|
NM_015488.5(PNKD):c.773C>T (p.Ser258Phe)
|
rs777714592
|
|
NM_015488.5(PNKD):c.77C>T (p.Ala26Val)
|
|
|
NM_015488.5(PNKD):c.781+12C>G
|
rs370963150
|
|
NM_015488.5(PNKD):c.781+13G>C
|
rs201802667
|
|
NM_015488.5(PNKD):c.781+16AG[3]
|
rs373351932
|
|
NM_015488.5(PNKD):c.781+17G>A
|
rs566000311
|
|
NM_015488.5(PNKD):c.781+19G>A
|
rs768075145
|
|
NM_015488.5(PNKD):c.782-15C>G
|
rs1694740535
|
|
NM_015488.5(PNKD):c.782-7C>T
|
rs773884627
|
|
NM_015488.5(PNKD):c.789C>T (p.Thr263=)
|
|
|
NM_015488.5(PNKD):c.793G>A (p.Glu265Lys)
|
|
|
NM_015488.5(PNKD):c.795G>T (p.Glu265Asp)
|
|
|
NM_015488.5(PNKD):c.79G>A (p.Gly27Arg)
|
|
|
NM_015488.5(PNKD):c.801T>G (p.Asn267Lys)
|
|
|
NM_015488.5(PNKD):c.822A>G (p.Ser274=)
|
rs2106297256
|
|
NM_015488.5(PNKD):c.827A>C (p.Asp276Ala)
|
|
|
NM_015488.5(PNKD):c.833_834del (p.Val278fs)
|
|
|
NM_015488.5(PNKD):c.839G>A (p.Gly280Glu)
|
rs766132328
|
|
NM_015488.5(PNKD):c.841C>A (p.Leu281Ile)
|
|
|
NM_015488.5(PNKD):c.855C>A (p.Thr285=)
|
|
|
NM_015488.5(PNKD):c.855C>T (p.Thr285=)
|
rs778631207
|
|
NM_015488.5(PNKD):c.857T>C (p.Leu286Pro)
|
|
|
NM_015488.5(PNKD):c.864G>A (p.Trp288Ter)
|
|
|
NM_015488.5(PNKD):c.868+18T>C
|
|
|
NM_015488.5(PNKD):c.868+7C>T
|
rs1574722529
|
|
NM_015488.5(PNKD):c.868+8_868+20del
|
rs2106297333
|
|
NM_015488.5(PNKD):c.869-15C>G
|
|
|
NM_015488.5(PNKD):c.869-17C>G
|
|
|
NM_015488.5(PNKD):c.869-6C>T
|
|
|
NM_015488.5(PNKD):c.872A>C (p.His291Pro)
|
|
|
NM_015488.5(PNKD):c.876G>C (p.Glu292Asp)
|
|
|
NM_015488.5(PNKD):c.876G>T (p.Glu292Asp)
|
|
|
NM_015488.5(PNKD):c.878A>G (p.Tyr293Cys)
|
rs1694770280
|
|
NM_015488.5(PNKD):c.894G>A (p.Leu298=)
|
|
|
NM_015488.5(PNKD):c.8C>T (p.Ala3Val)
|
rs751631915
|
|
NM_015488.5(PNKD):c.902C>T (p.Ala301Val)
|
rs2106298348
|
|
NM_015488.5(PNKD):c.905G>A (p.Gly302Asp)
|
|
|
NM_015488.5(PNKD):c.906T>G (p.Gly302=)
|
|
|
NM_015488.5(PNKD):c.910G>A (p.Val304Met)
|
|
|
NM_015488.5(PNKD):c.916C>T (p.Pro306Ser)
|
rs1247054660
|
|
NM_015488.5(PNKD):c.926T>C (p.Leu309Pro)
|
|
|
NM_015488.5(PNKD):c.930C>A (p.Ala310=)
|
rs146224183
|
|
NM_015488.5(PNKD):c.930C>G (p.Ala310=)
|
rs146224183
|
|
NM_015488.5(PNKD):c.931C>G (p.Arg311Gly)
|
|
|
NM_015488.5(PNKD):c.936G>A (p.Glu312=)
|
|
|
NM_015488.5(PNKD):c.937A>T (p.Arg313Trp)
|
rs2106298400
|
|
NM_015488.5(PNKD):c.948G>A (p.Gln316=)
|
|
|
NM_015488.5(PNKD):c.949T>C (p.Trp317Arg)
|
|
|
NM_015488.5(PNKD):c.953T>G (p.Val318Gly)
|
|
|
NM_015488.5(PNKD):c.958C>G (p.Arg320Gly)
|
|
|
NM_015488.5(PNKD):c.962A>G (p.Gln321Arg)
|
|
|
NM_015488.5(PNKD):c.972G>A (p.Glu324=)
|
|
|
NM_015488.5(PNKD):c.978G>A (p.Lys326=)
|
|
|
NM_015488.5(PNKD):c.97G>T (p.Ala33Ser)
|
rs121434513
|
|
NM_015488.5(PNKD):c.982A>T (p.Thr328Ser)
|
rs1225358282
|
|
NM_015488.5(PNKD):c.984+14G>A
|
|
|
NM_015488.5(PNKD):c.984+14_984+15del
|
rs754161794
|
|
NM_015488.5(PNKD):c.984+18C>T
|
|
|
NM_015488.5(PNKD):c.984+2T>G
|
|
|
NM_015488.5(PNKD):c.985-1G>C
|
rs1694783221
|
|
NM_015488.5(PNKD):c.989C>T (p.Pro330Leu)
|
|
|
NM_015488.5(PNKD):c.994A>G (p.Thr332Ala)
|
|
|
NM_015488.5(PNKD):c.999G>A (p.Leu333=)
|
|
|
NM_015488.5(PNKD):c.99T>G (p.Ala33=)
|
|
|
NM_015836.4(WARS2):c.148G>T (p.Gly50Cys)
|
rs11552864
|
|
NM_015836.4(WARS2):c.149G>A (p.Gly50Asp)
|
rs1571323203
|
|
NM_015836.4(WARS2):c.295CTT[1] (p.Leu100del)
|
rs772867219
|
|
NM_015836.4(WARS2):c.368T>G (p.Leu123Ter)
|
|
|
NM_015836.4(WARS2):c.622G>T (p.Glu208Ter)
|
rs137890886
|
|
NM_015836.4(WARS2):c.683C>G (p.Ser228Trp)
|
rs1647600390
|
|
NM_015836.4(WARS2):c.797del (p.Pro266fs)
|
rs746478253
|
|
NM_015836.4(WARS2):c.882C>A (p.Ser294Arg)
|
|
|
NM_145239.3(PRRT2):c.-20_18del (p.Met1fs)
|
|
|
NM_145239.3(PRRT2):c.1004A>C (p.Asn335Thr)
|
|
|
NM_145239.3(PRRT2):c.1004A>G (p.Asn335Ser)
|
|
|
NM_145239.3(PRRT2):c.1007del (p.Asn335_Leu336insTer)
|
|
|
NM_145239.3(PRRT2):c.1010G>A (p.Gly337Asp)
|
rs1900144446
|
|
NM_145239.3(PRRT2):c.1012+11G>C
|
|
|
NM_145239.3(PRRT2):c.1012+15G>A
|
|
|
NM_145239.3(PRRT2):c.1012+2T>C
|
|
|
NM_145239.3(PRRT2):c.1012+2T>G
|
|
|
NM_145239.3(PRRT2):c.1012+58_1013del
|
rs1900147386
|
|
NM_145239.3(PRRT2):c.1012+5G>T
|
rs2142429667
|
|
NM_145239.3(PRRT2):c.1012+6T>C
|
rs775846239
|
|
NM_145239.3(PRRT2):c.1012+7G>A
|
rs760453229
|
|
NM_145239.3(PRRT2):c.1012G>A (p.Val338Met)
|
rs772116016
|
|
NM_145239.3(PRRT2):c.1013-10T>C
|
rs1426270109
|
|
NM_145239.3(PRRT2):c.1013-14C>G
|
|
|
NM_145239.3(PRRT2):c.1013-17C>T
|
|
|
NM_145239.3(PRRT2):c.1013-18C>T
|
rs1900154550
|
|
NM_145239.3(PRRT2):c.1013-2A>G
|
rs1596895005
|
|
NM_145239.3(PRRT2):c.1013-3C>A
|
|
|
NM_145239.3(PRRT2):c.1013-5C>G
|
rs2142430404
|
|
NM_145239.3(PRRT2):c.1013T>A (p.Val338Glu)
|
rs144540943
|
|
NM_145239.3(PRRT2):c.1014G>A (p.Val338=)
|
|
|
NM_145239.3(PRRT2):c.1017T>C (p.Tyr339=)
|
|
|
NM_145239.3(PRRT2):c.101C>T (p.Pro34Leu)
|
|
|
NM_145239.3(PRRT2):c.1021T>C (p.Ter341Arg)
|
rs1403034524
|
|
NM_145239.3(PRRT2):c.1023A>G (p.Ter341Trp)
|
|
|
NM_145239.3(PRRT2):c.102T>C (p.Pro34=)
|
|
|
NM_145239.3(PRRT2):c.105C>T (p.Pro35=)
|
|
|
NM_145239.3(PRRT2):c.106C>A (p.Gln36Lys)
|
|
|
NM_145239.3(PRRT2):c.106del (p.Gln36fs)
|
rs1596889984
|
|
NM_145239.3(PRRT2):c.116C>T (p.Ala39Val)
|
|
|
NM_145239.3(PRRT2):c.118G>A (p.Gly40Arg)
|
rs1193212149
|
|
NM_145239.3(PRRT2):c.121del (p.Val41fs)
|
|
|
NM_145239.3(PRRT2):c.124C>T (p.Pro42Ser)
|
|
|
NM_145239.3(PRRT2):c.128A>G (p.Asp43Gly)
|
|
|
NM_145239.3(PRRT2):c.12C>A (p.Ser4Arg)
|
rs757148846
|
|
NM_145239.3(PRRT2):c.136G>A (p.Glu46Lys)
|
|
|
NM_145239.3(PRRT2):c.138G>A (p.Glu46=)
|
|
|
NM_145239.3(PRRT2):c.143C>T (p.Pro48Leu)
|
rs539726929
|
|
NM_145239.3(PRRT2):c.145C>G (p.Gln49Glu)
|
|
|
NM_145239.3(PRRT2):c.15C>T (p.Ser5=)
|
rs2142421996
|
|
NM_145239.3(PRRT2):c.15CTCTGAGAT[3] (p.Ile8_Glu10dup)
|
rs757994031
|
|
NM_145239.3(PRRT2):c.161C>G (p.Thr54Ser)
|
|
|
NM_145239.3(PRRT2):c.165T>G (p.Thr55=)
|
rs754536441
|
|
NM_145239.3(PRRT2):c.170C>A (p.Ala57Asp)
|
rs1262636745
|
|
NM_145239.3(PRRT2):c.170C>T (p.Ala57Val)
|
|
|
NM_145239.3(PRRT2):c.172C>T (p.Pro58Ser)
|
rs540005714
|
|
NM_145239.3(PRRT2):c.173C>G (p.Pro58Arg)
|
rs1567378768
|
|
NM_145239.3(PRRT2):c.176T>A (p.Val59Glu)
|
rs1900066714
|
|
NM_145239.3(PRRT2):c.17C>T (p.Ser6Phe)
|
|
|
NM_145239.3(PRRT2):c.185G>T (p.Gly62Val)
|
|
|
NM_145239.3(PRRT2):c.186G>T (p.Gly62=)
|
|
|
NM_145239.3(PRRT2):c.189del (p.Lys64fs)
|
rs1900067836
|
|
NM_145239.3(PRRT2):c.194C>G (p.Ala65Gly)
|
|
|
NM_145239.3(PRRT2):c.198G>C (p.Gly66=)
|
|
|
NM_145239.3(PRRT2):c.210A>G (p.Glu70=)
|
rs774824201
|
|
NM_145239.3(PRRT2):c.210_211del (p.Glu70fs)
|
rs886041579
|
|
NM_145239.3(PRRT2):c.211A>T (p.Thr71Ser)
|
rs1900069646
|
|
NM_145239.3(PRRT2):c.215C>G (p.Thr72Arg)
|
|
|
NM_145239.3(PRRT2):c.219G>A (p.Glu73=)
|
|
|
NM_145239.3(PRRT2):c.221C>A (p.Thr74Asn)
|
rs1394261454
|
|
NM_145239.3(PRRT2):c.222C>G (p.Thr74=)
|
rs1555502624
|
|
NM_145239.3(PRRT2):c.224dup (p.Ala76fs)
|
rs2142423194
|
|
NM_145239.3(PRRT2):c.226G>A (p.Ala76Thr)
|
rs1900070727
|
|
NM_145239.3(PRRT2):c.232G>A (p.Ala78Thr)
|
rs1239520299
|
|
NM_145239.3(PRRT2):c.248A>C (p.Gln83Pro)
|
|
|
NM_145239.3(PRRT2):c.251C>A (p.Ala84Asp)
|
|
|
NM_145239.3(PRRT2):c.258C>T (p.Asp86=)
|
|
|
NM_145239.3(PRRT2):c.259C>G (p.Leu87Val)
|
rs1596890511
|
|
NM_145239.3(PRRT2):c.268A>G (p.Ser90Gly)
|
rs1900072671
|
|
NM_145239.3(PRRT2):c.268dup (p.Ser90fs)
|
rs2142423439
|
|
NM_145239.3(PRRT2):c.270C>A (p.Ser90Arg)
|
rs1900072947
|
|
NM_145239.3(PRRT2):c.273A>G (p.Pro91=)
|
|
|
NM_145239.3(PRRT2):c.274G>A (p.Gly92Arg)
|
rs1900073708
|
|
NM_145239.3(PRRT2):c.275G>A (p.Gly92Glu)
|
|
|
NM_145239.3(PRRT2):c.279G>A (p.Gly93=)
|
rs1596890586
|
|
NM_145239.3(PRRT2):c.27dup (p.Glu10Ter)
|
rs1900057283
|
|
NM_145239.3(PRRT2):c.280G>A (p.Glu94Lys)
|
rs2142423546
|
|
NM_145239.3(PRRT2):c.282_283insC (p.Ser95fs)
|
rs1900074141
|
|
NM_145239.3(PRRT2):c.284C>A (p.Ser95Ter)
|
|
|
NM_145239.3(PRRT2):c.284C>G (p.Ser95Ter)
|
|
|
NM_145239.3(PRRT2):c.288G>A (p.Lys96=)
|
rs746270404
|
|
NM_145239.3(PRRT2):c.293A>G (p.Asn98Ser)
|
rs758787026
|
|
NM_145239.3(PRRT2):c.296G>A (p.Cys99Tyr)
|
rs780627568
|
|
NM_145239.3(PRRT2):c.298del (p.Ser100fs)
|
|
|
NM_145239.3(PRRT2):c.299G>A (p.Ser100Asn)
|
rs1596890680
|
|
NM_145239.3(PRRT2):c.29A>T (p.Glu10Val)
|
|
|
NM_145239.3(PRRT2):c.300C>T (p.Ser100=)
|
|
|
NM_145239.3(PRRT2):c.303del (p.Glu102fs)
|
rs1596890692
|
|
NM_145239.3(PRRT2):c.304del (p.Glu102fs)
|
rs1567379016
|
|
NM_145239.3(PRRT2):c.30G>A (p.Glu10=)
|
rs2142422073
|
|
NM_145239.3(PRRT2):c.310C>T (p.Pro104Ser)
|
|
|
NM_145239.3(PRRT2):c.319G>A (p.Glu107Lys)
|
|
|
NM_145239.3(PRRT2):c.31A>C (p.Met11Leu)
|
|
|
NM_145239.3(PRRT2):c.322A>T (p.Thr108Ser)
|
rs766161876
|
|
NM_145239.3(PRRT2):c.323C>G (p.Thr108Arg)
|
|
|
NM_145239.3(PRRT2):c.323_324del (p.Thr108fs)
|
rs886041327
|
|
NM_145239.3(PRRT2):c.324A>T (p.Thr108=)
|
rs2142423838
|
|
NM_145239.3(PRRT2):c.342G>T (p.Val114=)
|
|
|
NM_145239.3(PRRT2):c.344G>A (p.Ser115Asn)
|
|
|
NM_145239.3(PRRT2):c.347_348del (p.Lys116fs)
|
|
|
NM_145239.3(PRRT2):c.349G>C (p.Glu117Gln)
|
rs1900078271
|
|
NM_145239.3(PRRT2):c.34A>G (p.Lys12Glu)
|
|
|
NM_145239.3(PRRT2):c.353C>A (p.Ala118Asp)
|
|
|
NM_145239.3(PRRT2):c.354C>T (p.Ala118=)
|
rs1241694336
|
|
NM_145239.3(PRRT2):c.359C>T (p.Ala120Val)
|
|
|
NM_145239.3(PRRT2):c.361G>T (p.Asp121Tyr)
|
|
|
NM_145239.3(PRRT2):c.364C>A (p.Gln122Lys)
|
rs1555502665
|
|
NM_145239.3(PRRT2):c.364C>T (p.Gln122Ter)
|
rs1555502665
|
|
NM_145239.3(PRRT2):c.368G>T (p.Gly123Val)
|
rs758798693
|
|
NM_145239.3(PRRT2):c.369G>T (p.Gly123=)
|
rs1057521000
|
|
NM_145239.3(PRRT2):c.370T>A (p.Ser124Thr)
|
rs1191221100
|
|
NM_145239.3(PRRT2):c.375G>C (p.Arg125Ser)
|
rs1900080039
|
|
NM_145239.3(PRRT2):c.37G>A (p.Gly13Arg)
|
rs770164221
|
|
NM_145239.3(PRRT2):c.382T>A (p.Ser128Thr)
|
|
|
NM_145239.3(PRRT2):c.38G>A (p.Gly13Glu)
|
|
|
NM_145239.3(PRRT2):c.39G>A (p.Gly13=)
|
rs2142422128
|
|
NM_145239.3(PRRT2):c.401C>G (p.Pro134Arg)
|
rs1900081697
|
|
NM_145239.3(PRRT2):c.404_427del (p.Ala135_Pro142del)
|
rs779565135
|
|
NM_145239.3(PRRT2):c.407_408del (p.Pro136fs)
|
|
|
NM_145239.3(PRRT2):c.40G>A (p.Val14Ile)
|
|
|
NM_145239.3(PRRT2):c.411G>A (p.Glu137=)
|
|
|
NM_145239.3(PRRT2):c.417T>C (p.Ala139=)
|
rs1596891097
|
|
NM_145239.3(PRRT2):c.418C>A (p.Pro140Thr)
|
|
|
NM_145239.3(PRRT2):c.418C>T (p.Pro140Ser)
|
rs1365777114
|
|
NM_145239.3(PRRT2):c.420C>G (p.Pro140=)
|
|
|
NM_145239.3(PRRT2):c.422_432dup (p.Arg145fs)
|
|
|
NM_145239.3(PRRT2):c.425C>T (p.Pro142Leu)
|
|
|
NM_145239.3(PRRT2):c.427G>T (p.Asp143Tyr)
|
|
|
NM_145239.3(PRRT2):c.430C>T (p.Pro144Ser)
|
rs150501365
|
|
NM_145239.3(PRRT2):c.434G>T (p.Arg145Leu)
|
|
|
NM_145239.3(PRRT2):c.435G>A (p.Arg145=)
|
|
|
NM_145239.3(PRRT2):c.435G>T (p.Arg145=)
|
rs2142424494
|
|
NM_145239.3(PRRT2):c.436C>A (p.Pro146Thr)
|
rs1900084663
|
|
NM_145239.3(PRRT2):c.43G>A (p.Glu15Lys)
|
|
|
NM_145239.3(PRRT2):c.449C>G (p.Pro150Arg)
|
|
|
NM_145239.3(PRRT2):c.449dup (p.Thr151fs)
|
rs1900085480
|
|
NM_145239.3(PRRT2):c.455C>T (p.Pro152Leu)
|
|
|
NM_145239.3(PRRT2):c.456del (p.Lys153fs)
|
|
|
NM_145239.3(PRRT2):c.457_458del (p.Lys153fs)
|
|
|
NM_145239.3(PRRT2):c.459G>A (p.Lys153=)
|
rs887187368
|
|
NM_145239.3(PRRT2):c.460C>T (p.Pro154Ser)
|
rs571941412
|
|
NM_145239.3(PRRT2):c.466C>T (p.Leu156Phe)
|
|
|
NM_145239.3(PRRT2):c.469C>T (p.Gln157Ter)
|
|
|
NM_145239.3(PRRT2):c.46G>C (p.Glu16Gln)
|
rs777959783
|
|
NM_145239.3(PRRT2):c.471A>C (p.Gln157His)
|
|
|
NM_145239.3(PRRT2):c.475G>A (p.Glu159Lys)
|
|
|
NM_145239.3(PRRT2):c.483_487dup (p.Gln163fs)
|
|
|
NM_145239.3(PRRT2):c.487C>T (p.Gln163Ter)
|
rs387907127
|
|
NM_145239.3(PRRT2):c.493G>T (p.Asp165Tyr)
|
|
|
NM_145239.3(PRRT2):c.495C>T (p.Asp165=)
|
|
|
NM_145239.3(PRRT2):c.498C>T (p.Pro166=)
|
rs756252121
|
|
NM_145239.3(PRRT2):c.49_50del (p.Pro18fs)
|
|
|
NM_145239.3(PRRT2):c.500C>T (p.Thr167Ile)
|
|
|
NM_145239.3(PRRT2):c.503C>T (p.Pro168Leu)
|
rs1259344322
|
|
NM_145239.3(PRRT2):c.503del (p.Pro168fs)
|
rs2142424961
|
|
NM_145239.3(PRRT2):c.506A>G (p.Glu169Gly)
|
rs2142425015
|
|
NM_145239.3(PRRT2):c.509T>G (p.Ile170Ser)
|
rs1900089706
|
|
NM_145239.3(PRRT2):c.510dup (p.Leu171fs)
|
rs397515576
|
|
NM_145239.3(PRRT2):c.514_517del (p.Ser172fs)
|
rs730882065
|
|
NM_145239.3(PRRT2):c.516dup (p.Glu173Ter)
|
rs730882068
|
|
NM_145239.3(PRRT2):c.519G>A (p.Glu173=)
|
rs372588022
|
|
NM_145239.3(PRRT2):c.520_521del (p.Ser174fs)
|
|
|
NM_145239.3(PRRT2):c.521_530del (p.Ser174fs)
|
|
|
NM_145239.3(PRRT2):c.524T>C (p.Val175Ala)
|
rs1162557576
|
|
NM_145239.3(PRRT2):c.52C>A (p.Pro18Thr)
|
|
|
NM_145239.3(PRRT2):c.535C>T (p.Gln179Ter)
|
rs2142425167
|
|
NM_145239.3(PRRT2):c.535_538del (p.Gln179fs)
|
rs1555502708
|
|
NM_145239.3(PRRT2):c.543_544del (p.Asn181fs)
|
rs2142425196
|
|
NM_145239.3(PRRT2):c.545G>A (p.Gly182Glu)
|
rs2142425204
|
|
NM_145239.3(PRRT2):c.546G>A (p.Gly182=)
|
|
|
NM_145239.3(PRRT2):c.547G>T (p.Ala183Ser)
|
rs770599131
|
|
NM_145239.3(PRRT2):c.547dup (p.Ala183fs)
|
|
|
NM_145239.3(PRRT2):c.549A>T (p.Ala183=)
|
|
|
NM_145239.3(PRRT2):c.553G>C (p.Val185Leu)
|
|
|
NM_145239.3(PRRT2):c.55A>T (p.Lys19Ter)
|
|
|
NM_145239.3(PRRT2):c.562C>T (p.Gln188Ter)
|
rs397514578
|
|
NM_145239.3(PRRT2):c.564G>A (p.Gln188=)
|
rs545201760
|
|
NM_145239.3(PRRT2):c.567T>A (p.Ala189=)
|
|
|
NM_145239.3(PRRT2):c.569G>C (p.Gly190Ala)
|
rs1366259234
|
|
NM_145239.3(PRRT2):c.571G>T (p.Asp191Tyr)
|
rs2142425379
|
|
NM_145239.3(PRRT2):c.579dup (p.Glu194fs)
|
rs1900093244
|
|
NM_145239.3(PRRT2):c.581A>C (p.Glu194Ala)
|
|
|
NM_145239.3(PRRT2):c.584G>A (p.Gly195Asp)
|
|
|
NM_145239.3(PRRT2):c.58G>A (p.Val20Ile)
|
|
|
NM_145239.3(PRRT2):c.591C>T (p.Ala197=)
|
rs958471607
|
|
NM_145239.3(PRRT2):c.593_594del (p.Pro198fs)
|
rs1260966131
|
|
NM_145239.3(PRRT2):c.597G>A (p.Glu199=)
|
|
|
NM_145239.3(PRRT2):c.597G>C (p.Glu199Asp)
|
rs761568078
|
|
NM_145239.3(PRRT2):c.598C>T (p.Pro200Ser)
|
rs1271275084
|
|
NM_145239.3(PRRT2):c.5C>A (p.Ala2Glu)
|
|
|
NM_145239.3(PRRT2):c.602A>C (p.His201Pro)
|
|
|
NM_145239.3(PRRT2):c.603C>T (p.His201=)
|
rs543313284
|
|
NM_145239.3(PRRT2):c.604_607del (p.Ser202fs)
|
rs1064793851
|
|
NM_145239.3(PRRT2):c.623C>A (p.Ser208Tyr)
|
rs201409113
|
|
NM_145239.3(PRRT2):c.623C>G (p.Ser208Cys)
|
|
|
NM_145239.3(PRRT2):c.623C>T (p.Ser208Phe)
|
rs201409113
|
|
NM_145239.3(PRRT2):c.629C>T (p.Pro210Leu)
|
|
|
NM_145239.3(PRRT2):c.629del (p.Pro210fs)
|
rs730882067
|
|
NM_145239.3(PRRT2):c.629dup (p.Ala211fs)
|
rs730882067
|
|
NM_145239.3(PRRT2):c.638G>T (p.Gly213Val)
|
|
|
NM_145239.3(PRRT2):c.639_640insC (p.Ala214fs)
|
rs2142425874
|
|
NM_145239.3(PRRT2):c.640dup (p.Ala214fs)
|
|
|
NM_145239.3(PRRT2):c.641C>A (p.Ala214Asp)
|
rs1299324384
|
|
NM_145239.3(PRRT2):c.645C>A (p.Pro215=)
|
|
|
NM_145239.3(PRRT2):c.647C>A (p.Pro216His)
|
rs76335820
|
|
NM_145239.3(PRRT2):c.647C>G (p.Pro216Arg)
|
rs76335820
|
|
NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu)
|
rs76335820
|
|
NM_145239.3(PRRT2):c.648C>T (p.Pro216=)
|
rs772805935
|
|
NM_145239.3(PRRT2):c.649C>A (p.Arg217=)
|
rs77838305
|
|
NM_145239.3(PRRT2):c.649C>G (p.Arg217Gly)
|
rs77838305
|
|
NM_145239.3(PRRT2):c.649C>T (p.Arg217Ter)
|
rs77838305
|
|
NM_145239.3(PRRT2):c.649del (p.Arg217fs)
|
rs587778771
|
|
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
|
|
|
NM_145239.3(PRRT2):c.64G>A (p.Gly22Ser)
|
rs1900059601
|
|
NM_145239.3(PRRT2):c.650G>C (p.Arg217Pro)
|
|
|
NM_145239.3(PRRT2):c.653T>G (p.Val218Gly)
|
rs2142426094
|
|
NM_145239.3(PRRT2):c.653_660dup (p.Gln221fs)
|
rs1900100925
|
|
NM_145239.3(PRRT2):c.658C>T (p.Gln220Ter)
|
rs1217390170
|
|
NM_145239.3(PRRT2):c.65G>A (p.Gly22Asp)
|
|
|
NM_145239.3(PRRT2):c.661C>T (p.Gln221Ter)
|
rs1567379819
|
|
NM_145239.3(PRRT2):c.663G>C (p.Gln221His)
|
|
|
NM_145239.3(PRRT2):c.667G>A (p.Val223Ile)
|
rs2142426155
|
|
NM_145239.3(PRRT2):c.674A>G (p.Glu225Gly)
|
rs1057518890
|
|
NM_145239.3(PRRT2):c.679C>T (p.Arg227Ter)
|
|
|
NM_145239.3(PRRT2):c.689G>A (p.Arg230Lys)
|
|
|
NM_145239.3(PRRT2):c.696C>G (p.His232Gln)
|
|
|
NM_145239.3(PRRT2):c.696C>T (p.His232=)
|
rs570108715
|
|
NM_145239.3(PRRT2):c.697_698del (p.Ser233fs)
|
rs1596892401
|
|
NM_145239.3(PRRT2):c.702G>A (p.Gly234=)
|
rs765496456
|
|
NM_145239.3(PRRT2):c.713C>G (p.Ser238Cys)
|
|
|
NM_145239.3(PRRT2):c.715C>T (p.Pro239Ser)
|
|
|
NM_145239.3(PRRT2):c.718C>T (p.Arg240Ter)
|
rs387907126
|
|
NM_145239.3(PRRT2):c.71G>A (p.Gly24Glu)
|
|
|
NM_145239.3(PRRT2):c.721G>A (p.Gly241Ser)
|
rs1376127932
|
|
NM_145239.3(PRRT2):c.723T>C (p.Gly241=)
|
rs1047553508
|
|
NM_145239.3(PRRT2):c.729G>A (p.Leu243=)
|
rs780035379
|
|
NM_145239.3(PRRT2):c.729G>C (p.Leu243=)
|
rs780035379
|
|
NM_145239.3(PRRT2):c.733_744del (p.Arg245_Ser248del)
|
rs1900106653
|
|
NM_145239.3(PRRT2):c.739_740delinsAT (p.Pro247Ile)
|
rs2142426556
|
|
NM_145239.3(PRRT2):c.739_740delinsG (p.Pro247fs)
|
|
|
NM_145239.3(PRRT2):c.740C>G (p.Pro247Arg)
|
|
|
NM_145239.3(PRRT2):c.741C>G (p.Pro247=)
|
|
|
NM_145239.3(PRRT2):c.741del (p.Ser248fs)
|
|
|
NM_145239.3(PRRT2):c.742del (p.Ser248fs)
|
rs2142426594
|
|
NM_145239.3(PRRT2):c.742dup (p.Ser248fs)
|
rs1596892633
|
|
NM_145239.3(PRRT2):c.745T>C (p.Ser249Pro)
|
rs944092875
|
|
NM_145239.3(PRRT2):c.748C>T (p.Gln250Ter)
|
rs397514579
|
|
NM_145239.3(PRRT2):c.74C>G (p.Pro25Arg)
|
|
|
NM_145239.3(PRRT2):c.74C>T (p.Pro25Leu)
|
|
|
NM_145239.3(PRRT2):c.757G>A (p.Gly253Ser)
|
rs1567379996
|
|
NM_145239.3(PRRT2):c.759T>C (p.Gly253=)
|
|
|
NM_145239.3(PRRT2):c.761C>G (p.Pro254Arg)
|
|
|
NM_145239.3(PRRT2):c.761C>T (p.Pro254Leu)
|
|
|
NM_145239.3(PRRT2):c.764G>A (p.Gly255Glu)
|
rs913445669
|
|
NM_145239.3(PRRT2):c.765G>A (p.Gly255=)
|
|
|
NM_145239.3(PRRT2):c.766G>A (p.Val256Met)
|
rs761038109
|
|
NM_145239.3(PRRT2):c.767T>A (p.Val256Glu)
|
rs1200230935
|
|
NM_145239.3(PRRT2):c.769G>A (p.Glu257Lys)
|
rs2142426795
|
|
NM_145239.3(PRRT2):c.769_778del (p.Glu257fs)
|
rs886041960
|
|
NM_145239.3(PRRT2):c.76G>T (p.Gly26Cys)
|
rs2142422369
|
|
NM_145239.3(PRRT2):c.772G>A (p.Gly258Arg)
|
|
|
NM_145239.3(PRRT2):c.772G>C (p.Gly258Arg)
|
rs996840274
|
|
NM_145239.3(PRRT2):c.776del (p.Gly259fs)
|
rs1900111672
|
|
NM_145239.3(PRRT2):c.776dup (p.Gly259_Glu260insTer)
|
rs1900111672
|
|
NM_145239.3(PRRT2):c.787C>T (p.Gln263Ter)
|
|
|
NM_145239.3(PRRT2):c.789G>A (p.Gln263=)
|
|
|
NM_145239.3(PRRT2):c.793C>A (p.Pro265Thr)
|
rs1900112848
|
|
NM_145239.3(PRRT2):c.799del (p.Asp267fs)
|
rs1567380076
|
|
NM_145239.3(PRRT2):c.802_804del (p.Tyr268del)
|
rs1567380086
|
|
NM_145239.3(PRRT2):c.807C>A (p.Ile269=)
|
|
|
NM_145239.3(PRRT2):c.809T>A (p.Ile270Asn)
|
rs1900113819
|
|
NM_145239.3(PRRT2):c.810C>A (p.Ile270=)
|
|
|
NM_145239.3(PRRT2):c.819C>T (p.Ile273=)
|
|
|
NM_145239.3(PRRT2):c.82T>C (p.Ser28Pro)
|
rs1900060891
|
|
NM_145239.3(PRRT2):c.834C>A (p.Cys278Ter)
|
rs758654999
|
|
NM_145239.3(PRRT2):c.83C>G (p.Ser28Cys)
|
rs1900061006
|
|
NM_145239.3(PRRT2):c.840G>A (p.Met280Ile)
|
|
|
NM_145239.3(PRRT2):c.841T>C (p.Trp281Arg)
|
rs1567380135
|
|
NM_145239.3(PRRT2):c.842G>A (p.Trp281Ter)
|
rs2142427166
|
|
NM_145239.3(PRRT2):c.843G>A (p.Trp281Ter)
|
rs1596893055
|
|
NM_145239.3(PRRT2):c.844C>T (p.Pro282Ser)
|
|
|
NM_145239.3(PRRT2):c.845C>T (p.Pro282Leu)
|
rs1596893062
|
|
NM_145239.3(PRRT2):c.846T>A (p.Pro282=)
|
|
|
NM_145239.3(PRRT2):c.848_863del (p.Val283fs)
|
rs1596893071
|
|
NM_145239.3(PRRT2):c.854T>C (p.Ile285Thr)
|
|
|
NM_145239.3(PRRT2):c.859G>C (p.Ala287Pro)
|
rs1900116554
|
|
NM_145239.3(PRRT2):c.860C>T (p.Ala287Val)
|
|
|
NM_145239.3(PRRT2):c.866C>A (p.Ala289Asp)
|
|
|
NM_145239.3(PRRT2):c.867T>A (p.Ala289=)
|
rs2142427295
|
|
NM_145239.3(PRRT2):c.870T>G (p.Tyr290Ter)
|
rs1244255905
|
|
NM_145239.3(PRRT2):c.871G>A (p.Ala291Thr)
|
rs1596893141
|
|
NM_145239.3(PRRT2):c.879+1_879+2insGGTCCCA
|
rs2142427391
|
|
NM_145239.3(PRRT2):c.879+4A>C
|
rs1900118404
|
|
NM_145239.3(PRRT2):c.87A>G (p.Glu29=)
|
rs1057521028
|
|
NM_145239.3(PRRT2):c.880-1G>A
|
rs1596893952
|
|
NM_145239.3(PRRT2):c.880-1G>C
|
rs1596893952
|
|
NM_145239.3(PRRT2):c.880-1G>T
|
rs1596893952
|
|
NM_145239.3(PRRT2):c.880-5C>T
|
rs1434488493
|
|
NM_145239.3(PRRT2):c.880-6C>T
|
rs1307417003
|
|
NM_145239.3(PRRT2):c.884G>A (p.Arg295Gln)
|
rs1468206811
|
|
NM_145239.3(PRRT2):c.885del (p.Asn296fs)
|
|
|
NM_145239.3(PRRT2):c.886A>T (p.Asn296Tyr)
|
|
|
NM_145239.3(PRRT2):c.891C>G (p.Ser297Arg)
|
rs1900136032
|
|
NM_145239.3(PRRT2):c.895C>T (p.Gln299Ter)
|
|
|
NM_145239.3(PRRT2):c.896A>C (p.Gln299Pro)
|
rs2142428856
|
|
NM_145239.3(PRRT2):c.896A>G (p.Gln299Arg)
|
|
|
NM_145239.3(PRRT2):c.8C>G (p.Ala3Gly)
|
rs1555502548
|
|
NM_145239.3(PRRT2):c.905A>T (p.Asp302Val)
|
|
|
NM_145239.3(PRRT2):c.906C>T (p.Asp302=)
|
|
|
NM_145239.3(PRRT2):c.907G>C (p.Val303Leu)
|
|
|
NM_145239.3(PRRT2):c.910G>A (p.Asp304Asn)
|
rs1900136723
|
|
NM_145239.3(PRRT2):c.913G>C (p.Gly305Arg)
|
|
|
NM_145239.3(PRRT2):c.914G>C (p.Gly305Ala)
|
rs1220798796
|
|
NM_145239.3(PRRT2):c.916G>C (p.Ala306Pro)
|
rs727504111
|
|
NM_145239.3(PRRT2):c.916G>T (p.Ala306Ser)
|
rs727504111
|
|
NM_145239.3(PRRT2):c.916_924del (p.Ala306_Arg308del)
|
|
|
NM_145239.3(PRRT2):c.916_934del (p.Gly305_Ala306insTer)
|
rs2142428932
|
|
NM_145239.3(PRRT2):c.917C>T (p.Ala306Val)
|
rs1596894089
|
|
NM_145239.3(PRRT2):c.921del (p.Gln307fs)
|
rs1900137777
|
|
NM_145239.3(PRRT2):c.922C>G (p.Arg308Gly)
|
rs932713001
|
|
NM_145239.3(PRRT2):c.922C>T (p.Arg308Cys)
|
rs932713001
|
|
NM_145239.3(PRRT2):c.922_923del (p.Arg308fs)
|
|
|
NM_145239.3(PRRT2):c.923G>C (p.Arg308Pro)
|
rs989894169
|
|
NM_145239.3(PRRT2):c.924T>A (p.Arg308=)
|
|
|
NM_145239.3(PRRT2):c.926T>C (p.Leu309Pro)
|
rs1900138631
|
|
NM_145239.3(PRRT2):c.932G>A (p.Arg311Gln)
|
rs866838115
|
|
NM_145239.3(PRRT2):c.932G>C (p.Arg311Pro)
|
rs866838115
|
|
NM_145239.3(PRRT2):c.933G>C (p.Arg311=)
|
|
|
NM_145239.3(PRRT2):c.936_965del (p.Ala313_Val322del)
|
|
|
NM_145239.3(PRRT2):c.93A>G (p.Glu31=)
|
rs1315799003
|
|
NM_145239.3(PRRT2):c.943C>T (p.Leu315Phe)
|
rs1900140264
|
|
NM_145239.3(PRRT2):c.945C>G (p.Leu315=)
|
rs2142429172
|
|
NM_145239.3(PRRT2):c.950G>A (p.Ser317Asn)
|
rs387907125
|
|
NM_145239.3(PRRT2):c.951C>G (p.Ser317Arg)
|
|
|
NM_145239.3(PRRT2):c.955G>A (p.Val319Met)
|
rs945627261
|
|
NM_145239.3(PRRT2):c.957G>A (p.Val319=)
|
rs2142429259
|
|
NM_145239.3(PRRT2):c.961C>G (p.Leu321Val)
|
|
|
NM_145239.3(PRRT2):c.963G>A (p.Leu321=)
|
|
|
NM_145239.3(PRRT2):c.966G>A (p.Val322=)
|
rs749980796
|
|
NM_145239.3(PRRT2):c.970G>T (p.Gly324Ter)
|
rs906768870
|
|
NM_145239.3(PRRT2):c.971G>A (p.Gly324Glu)
|
rs796052938
|
|
NM_145239.3(PRRT2):c.971G>T (p.Gly324Val)
|
rs796052938
|
|
NM_145239.3(PRRT2):c.971del (p.Gly324fs)
|
rs796052941
|
|
NM_145239.3(PRRT2):c.971dup (p.Val325fs)
|
rs796052941
|
|
NM_145239.3(PRRT2):c.972_975del (p.Val325fs)
|
rs1555502908
|
|
NM_145239.3(PRRT2):c.972del (p.Val325fs)
|
rs730882066
|
|
NM_145239.3(PRRT2):c.973G>A (p.Val325Ile)
|
rs2142429422
|
|
NM_145239.3(PRRT2):c.976C>A (p.Leu326Ile)
|
rs1900142681
|
|
NM_145239.3(PRRT2):c.976_978del (p.Leu326del)
|
|
|
NM_145239.3(PRRT2):c.976del (p.Leu326fs)
|
|
|
NM_145239.3(PRRT2):c.982A>G (p.Ile328Val)
|
rs2142429484
|
|
NM_145239.3(PRRT2):c.985A>G (p.Ile329Val)
|
rs2142429495
|
|
NM_145239.3(PRRT2):c.986T>A (p.Ile329Asn)
|
rs1900143158
|
|
NM_145239.3(PRRT2):c.987C>T (p.Ile329=)
|
rs368411419
|
|
NM_145239.3(PRRT2):c.988G>A (p.Ala330Thr)
|
rs757132796
|
|
NM_145239.3(PRRT2):c.98G>A (p.Gly33Asp)
|
rs1900061718
|
|
NM_145239.3(PRRT2):c.991del (p.Ser331fs)
|
|
|
NM_145239.3(PRRT2):c.997G>T (p.Val333Phe)
|
rs749851660
|
|
NM_145239.3(PRRT2):c.998TCA[1] (p.Ile334del)
|
|
|
NM_152296.5(ATP1A3):c.*206T>C
|
rs1197209551
|
|
NM_152296.5(ATP1A3):c.*247C>T
|
rs565195548
|
|
NM_152296.5(ATP1A3):c.*280T>A
|
rs886054472
|
|
NM_152296.5(ATP1A3):c.*99C>G
|
rs1555858636
|
|
NM_152296.5(ATP1A3):c.-130GACG[3]
|
rs879996553
|
|
NM_152296.5(ATP1A3):c.1006C>T (p.Leu336=)
|
rs1555863734
|
|
NM_152296.5(ATP1A3):c.1011C>A (p.Thr337=)
|
|
|
NM_152296.5(ATP1A3):c.1011C>G (p.Thr337=)
|
rs782312004
|
|
NM_152296.5(ATP1A3):c.1011C>T (p.Thr337=)
|
rs782312004
|
|
NM_152296.5(ATP1A3):c.1012G>A (p.Ala338Thr)
|
rs2145972624
|
|
NM_152296.5(ATP1A3):c.1013C>A (p.Ala338Asp)
|
rs2075238567
|
|
NM_152296.5(ATP1A3):c.1018C>T (p.Arg340Cys)
|
|
|
NM_152296.5(ATP1A3):c.1036T>C (p.Cys346Arg)
|
rs1599719534
|
|
NM_152296.5(ATP1A3):c.1050C>A (p.Asn350Lys)
|
|
|
NM_152296.5(ATP1A3):c.1071G>A (p.Leu357=)
|
rs2075237640
|
|
NM_152296.5(ATP1A3):c.1072G>A (p.Gly358Ser)
|
rs606231432
|
|
NM_152296.5(ATP1A3):c.1072G>T (p.Gly358Cys)
|
rs606231432
|
|
NM_152296.5(ATP1A3):c.1073G>A (p.Gly358Asp)
|
rs1555863693
|
|
NM_152296.5(ATP1A3):c.1073G>C (p.Gly358Ala)
|
rs1555863693
|
|
NM_152296.5(ATP1A3):c.1073G>T (p.Gly358Val)
|
rs1555863693
|
|
NM_152296.5(ATP1A3):c.1079C>G (p.Thr360Arg)
|
|
|
NM_152296.5(ATP1A3):c.1088T>A (p.Ile363Asn)
|
rs2145972483
|
|
NM_152296.5(ATP1A3):c.1088T>C (p.Ile363Thr)
|
rs2145972483
|
|
NM_152296.5(ATP1A3):c.108G>A (p.Met36Ile)
|
rs1599725994
|
|
NM_152296.5(ATP1A3):c.1096G>A (p.Asp366Asn)
|
rs2145972473
|
|
NM_152296.5(ATP1A3):c.1103C>T (p.Thr368Ile)
|
rs1599719492
|
|
NM_152296.5(ATP1A3):c.1107G>A (p.Gly369=)
|
|
|
NM_152296.5(ATP1A3):c.1108A>G (p.Thr370Ala)
|
rs2145972442
|
|
NM_152296.5(ATP1A3):c.1109C>T (p.Thr370Ile)
|
|
|
NM_152296.5(ATP1A3):c.1111C>G (p.Leu371Val)
|
|
|
NM_152296.5(ATP1A3):c.111A>C (p.Ser37=)
|
rs1555866210
|
|
NM_152296.5(ATP1A3):c.1122C>T (p.Asn374=)
|
|
|
NM_152296.5(ATP1A3):c.1124G>A (p.Arg375His)
|
rs200891944
|
|
NM_152296.5(ATP1A3):c.1133T>C (p.Val378Ala)
|
rs2145972381
|
|
NM_152296.5(ATP1A3):c.1137C>T (p.Ala379=)
|
|
|
NM_152296.5(ATP1A3):c.113T>C (p.Val38Ala)
|
rs886044790
|
|
NM_152296.5(ATP1A3):c.1161C>T (p.Ile387=)
|
rs2075236406
|
|
NM_152296.5(ATP1A3):c.1164C>A (p.His388Gln)
|
rs201446077
|
|
NM_152296.5(ATP1A3):c.1185C>T (p.Asp395=)
|
|
|
NM_152296.5(ATP1A3):c.1186C>G (p.Gln396Glu)
|
|
|
NM_152296.5(ATP1A3):c.1192+10G>A
|
rs2145972233
|
|
NM_152296.5(ATP1A3):c.1192+12_1192+23del
|
rs2145972211
|
|
NM_152296.5(ATP1A3):c.1192+16G>A
|
|
|
NM_152296.5(ATP1A3):c.1192+16G>C
|
|
|
NM_152296.5(ATP1A3):c.1192+18G>C
|
|
|
NM_152296.5(ATP1A3):c.1192+3G>C
|
|
|
NM_152296.5(ATP1A3):c.1192+7G>A
|
rs374826826
|
|
NM_152296.5(ATP1A3):c.1192+7G>C
|
rs374826826
|
|
NM_152296.5(ATP1A3):c.1193-13A>T
|
|
|
NM_152296.5(ATP1A3):c.1197C>A (p.Thr399=)
|
rs781903799
|
|
NM_152296.5(ATP1A3):c.1207A>G (p.Lys403Glu)
|
|
|
NM_152296.5(ATP1A3):c.1222T>C (p.Trp408Arg)
|
|
|
NM_152296.5(ATP1A3):c.1230C>T (p.Ala410=)
|
|
|
NM_152296.5(ATP1A3):c.1232T>C (p.Leu411Pro)
|
rs1568862410
|
|
NM_152296.5(ATP1A3):c.1238A>G (p.His413Arg)
|
|
|
NM_152296.5(ATP1A3):c.1242C>A (p.Ile414=)
|
|
|
NM_152296.5(ATP1A3):c.1243G>C (p.Ala415Pro)
|
|
|
NM_152296.5(ATP1A3):c.124T>C (p.Cys42Arg)
|
rs2075305399
|
|
NM_152296.5(ATP1A3):c.1260C>G (p.Arg420=)
|
rs113909283
|
|
NM_152296.5(ATP1A3):c.1269C>T (p.Phe423=)
|
|
|
NM_152296.5(ATP1A3):c.126C>T (p.Cys42=)
|
|
|
NM_152296.5(ATP1A3):c.1279C>G (p.Gln427Glu)
|
rs2075234284
|
|
NM_152296.5(ATP1A3):c.127C>T (p.Arg43Trp)
|
|
|
NM_152296.5(ATP1A3):c.1288A>G (p.Ile430Val)
|
rs1555863472
|
|
NM_152296.5(ATP1A3):c.1290C>G (p.Ile430Met)
|
|
|
NM_152296.5(ATP1A3):c.1290C>T (p.Ile430=)
|
|
|
NM_152296.5(ATP1A3):c.1299del (p.Lys434fs)
|
|
|
NM_152296.5(ATP1A3):c.1302+1G>A
|
rs1599719130
|
|
NM_152296.5(ATP1A3):c.1303-12T>G
|
|
|
NM_152296.5(ATP1A3):c.1303-14C>G
|
rs1555863411
|
|
NM_152296.5(ATP1A3):c.1303-19C>A
|
|
|
NM_152296.5(ATP1A3):c.1303-20A>T
|
|
|
NM_152296.5(ATP1A3):c.1303-5T>G
|
rs782123500
|
|
NM_152296.5(ATP1A3):c.1304G>A (p.Arg435Lys)
|
|
|
NM_152296.5(ATP1A3):c.1314T>C (p.Ala438=)
|
|
|
NM_152296.5(ATP1A3):c.1322C>T (p.Ala441Val)
|
rs2075232659
|
|
NM_152296.5(ATP1A3):c.1323G>A (p.Ala441=)
|
rs34578730
|
|
NM_152296.5(ATP1A3):c.1323G>T (p.Ala441=)
|
rs34578730
|
|
NM_152296.5(ATP1A3):c.1326T>C (p.Ser442=)
|
|
|
NM_152296.5(ATP1A3):c.1336C>G (p.Leu446Val)
|
rs2075232387
|
|
NM_152296.5(ATP1A3):c.1338G>A (p.Leu446=)
|
rs1555863367
|
|
NM_152296.5(ATP1A3):c.1351G>A (p.Glu451Lys)
|
|
|
NM_152296.5(ATP1A3):c.1354C>T (p.Leu452=)
|
rs1555863355
|
|
NM_152296.5(ATP1A3):c.1356G>T (p.Leu452=)
|
|
|
NM_152296.5(ATP1A3):c.1357T>G (p.Ser453Ala)
|
rs1480822980
|
|
NM_152296.5(ATP1A3):c.1369G>C (p.Val457Leu)
|
rs2145971610
|
|
NM_152296.5(ATP1A3):c.1377G>A (p.Leu459=)
|
|
|
NM_152296.5(ATP1A3):c.1384G>A (p.Glu462Lys)
|
rs2075231792
|
|
NM_152296.5(ATP1A3):c.1392C>T (p.Asn464=)
|
|
|
NM_152296.5(ATP1A3):c.13A>G (p.Lys5Glu)
|
rs2145984238
|
|
NM_152296.5(ATP1A3):c.1401G>A (p.Val467=)
|
|
|
NM_152296.5(ATP1A3):c.1416C>T (p.Phe472=)
|
|
|
NM_152296.5(ATP1A3):c.141A>G (p.Thr47=)
|
|
|
NM_152296.5(ATP1A3):c.1429A>T (p.Lys477Ter)
|
rs2145971509
|
|
NM_152296.5(ATP1A3):c.1437+4C>T
|
rs2145971500
|
|
NM_152296.5(ATP1A3):c.1437+5T>A
|
|
|
NM_152296.5(ATP1A3):c.1438-2A>G
|
rs2075199553
|
|
NM_152296.5(ATP1A3):c.1454C>T (p.Thr485Ile)
|
rs1555862366
|
|
NM_152296.5(ATP1A3):c.1456G>A (p.Glu486Lys)
|
rs1599716048
|
|
NM_152296.5(ATP1A3):c.1462C>T (p.Pro488Ser)
|
|
|
NM_152296.5(ATP1A3):c.1466A>G (p.Asn489Ser)
|
rs2075199183
|
|
NM_152296.5(ATP1A3):c.1468G>A (p.Asp490Asn)
|
|
|
NM_152296.5(ATP1A3):c.1483C>T (p.Leu495=)
|
rs1555862344
|
|
NM_152296.5(ATP1A3):c.1485G>A (p.Leu495=)
|
rs1555862341
|
|
NM_152296.5(ATP1A3):c.1491G>C (p.Met497Ile)
|
rs2075198787
|
|
NM_152296.5(ATP1A3):c.1494G>A (p.Lys498=)
|
rs1555862337
|
|
NM_152296.5(ATP1A3):c.1495G>A (p.Gly499Ser)
|
rs2145966073
|
|
NM_152296.5(ATP1A3):c.1499C>G (p.Ala500Gly)
|
|
|
NM_152296.5(ATP1A3):c.1500C>A (p.Ala500=)
|
rs146606627
|
|
NM_152296.5(ATP1A3):c.1512C>A (p.Ile504=)
|
rs2145966048
|
|
NM_152296.5(ATP1A3):c.1525T>G (p.Ser509Ala)
|
|
|
NM_152296.5(ATP1A3):c.153+20T>C
|
|
|
NM_152296.5(ATP1A3):c.1538T>A (p.Leu513Gln)
|
|
|
NM_152296.5(ATP1A3):c.154-13C>A
|
|
|
NM_152296.5(ATP1A3):c.154-13C>G
|
|
|
NM_152296.5(ATP1A3):c.154-14C>T
|
|
|
NM_152296.5(ATP1A3):c.154-20G>A
|
rs782526131
|
|
NM_152296.5(ATP1A3):c.1541A>C (p.Gln514Pro)
|
rs2145965993
|
|
NM_152296.5(ATP1A3):c.1542G>C (p.Gln514His)
|
|
|
NM_152296.5(ATP1A3):c.1548G>A (p.Lys516=)
|
|
|
NM_152296.5(ATP1A3):c.1549G>C (p.Glu517Gln)
|
rs782583311
|
|
NM_152296.5(ATP1A3):c.1552C>G (p.Gln518Glu)
|
|
|
NM_152296.5(ATP1A3):c.1555C>A (p.Pro519Thr)
|
|
|
NM_152296.5(ATP1A3):c.1563C>T (p.Asp521=)
|
rs368551273
|
|
NM_152296.5(ATP1A3):c.1564G>A (p.Glu522Lys)
|
rs782769181
|
|
NM_152296.5(ATP1A3):c.15A>G (p.Lys5=)
|
rs886054476
|
|
NM_152296.5(ATP1A3):c.1609G>A (p.Gly537Ser)
|
rs2145965881
|
|
NM_152296.5(ATP1A3):c.1621C>T (p.Arg541Cys)
|
rs1555862292
|
|
NM_152296.5(ATP1A3):c.1624G>T (p.Val542Leu)
|
|
|
NM_152296.5(ATP1A3):c.1629T>C (p.Leu543=)
|
|
|
NM_152296.5(ATP1A3):c.1630+13C>G
|
|
|
NM_152296.5(ATP1A3):c.1630+13C>T
|
|
|
NM_152296.5(ATP1A3):c.1630+17C>A
|
rs782259548
|
|
NM_152296.5(ATP1A3):c.1630+17C>T
|
|
|
NM_152296.5(ATP1A3):c.1630+18G>A
|
|
|
NM_152296.5(ATP1A3):c.1630+2T>C
|
rs2145965854
|
|
NM_152296.5(ATP1A3):c.1630+4C>T
|
|
|
NM_152296.5(ATP1A3):c.1631-16C>G
|
|
|
NM_152296.5(ATP1A3):c.1631-8G>A
|
|
|
NM_152296.5(ATP1A3):c.1651C>T (p.Pro551Ser)
|
rs2075193911
|
|
NM_152296.5(ATP1A3):c.1653C>T (p.Pro551=)
|
rs782493144
|
|
NM_152296.5(ATP1A3):c.1657G>A (p.Glu553Lys)
|
rs2075193714
|
|
NM_152296.5(ATP1A3):c.1672G>A (p.Gly558Ser)
|
|
|
NM_152296.5(ATP1A3):c.1673G>A (p.Gly558Asp)
|
rs2075193579
|
|
NM_152296.5(ATP1A3):c.1716C>G (p.Asn572Lys)
|
rs782017635
|
|
NM_152296.5(ATP1A3):c.1719C>A (p.Leu573=)
|
rs886054474
|
|
NM_152296.5(ATP1A3):c.1740C>G (p.Ser580=)
|
|
|
NM_152296.5(ATP1A3):c.1740C>T (p.Ser580=)
|
|
|
NM_152296.5(ATP1A3):c.1747G>A (p.Asp583Asn)
|
rs2145964907
|
|
NM_152296.5(ATP1A3):c.1755C>G (p.Pro585=)
|
|
|
NM_152296.5(ATP1A3):c.1755C>T (p.Pro585=)
|
|
|
NM_152296.5(ATP1A3):c.1764C>T (p.Ala588=)
|
|
|
NM_152296.5(ATP1A3):c.1775C>A (p.Ala592Glu)
|
rs1599715351
|
|
NM_152296.5(ATP1A3):c.1775C>T (p.Ala592Val)
|
rs1599715351
|
|
NM_152296.5(ATP1A3):c.1784_1792del (p.Lys595_Arg597del)
|
|
|
NM_152296.5(ATP1A3):c.1789C>T (p.Arg597Cys)
|
rs2075192084
|
|
NM_152296.5(ATP1A3):c.1790G>A (p.Arg597His)
|
rs1599715341
|
|
NM_152296.5(ATP1A3):c.1795G>A (p.Ala599Thr)
|
rs1057519113
|
|
NM_152296.5(ATP1A3):c.1795G>C (p.Ala599Pro)
|
|
|
NM_152296.5(ATP1A3):c.1801A>T (p.Ile601Phe)
|
rs1599715325
|
|
NM_152296.5(ATP1A3):c.1803C>T (p.Ile601=)
|
|
|
NM_152296.5(ATP1A3):c.1806+12G>C
|
rs1555862070
|
|
NM_152296.5(ATP1A3):c.1807-14A>T
|
|
|
NM_152296.5(ATP1A3):c.1807-2A>G
|
|
|
NM_152296.5(ATP1A3):c.1807-5T>C
|
rs2145964609
|
|
NM_152296.5(ATP1A3):c.1807-7C>A
|
|
|
NM_152296.5(ATP1A3):c.1812C>A (p.Ile604=)
|
|
|
NM_152296.5(ATP1A3):c.1820C>T (p.Thr607Ile)
|
rs2145964580
|
|
NM_152296.5(ATP1A3):c.1825G>A (p.Asp609Asn)
|
rs2075190697
|
|
NM_152296.5(ATP1A3):c.1830C>T (p.His610=)
|
|
|
NM_152296.5(ATP1A3):c.1838C>T (p.Thr613Met)
|
|
|
NM_152296.5(ATP1A3):c.1839G>C (p.Thr613=)
|
rs376852509
|
|
NM_152296.5(ATP1A3):c.1843A>G (p.Lys615Glu)
|
|
|
NM_152296.5(ATP1A3):c.1853C>A (p.Ala618Asp)
|
|
|
NM_152296.5(ATP1A3):c.1853C>T (p.Ala618Val)
|
|
|
NM_152296.5(ATP1A3):c.1854C>T (p.Ala618=)
|
|
|
NM_152296.5(ATP1A3):c.1872C>T (p.Ile624=)
|
rs1599715179
|
|
NM_152296.5(ATP1A3):c.1881C>T (p.Gly627=)
|
|
|
NM_152296.5(ATP1A3):c.1884C>A (p.Asn628Lys)
|
rs144130986
|
|
NM_152296.5(ATP1A3):c.18T>C (p.Asp6=)
|
|
|
NM_152296.5(ATP1A3):c.1902C>T (p.Ile634=)
|
|
|
NM_152296.5(ATP1A3):c.1906G>T (p.Ala636Ser)
|
|
|
NM_152296.5(ATP1A3):c.1917C>T (p.Asn639=)
|
rs2145964395
|
|
NM_152296.5(ATP1A3):c.1923C>G (p.Pro641=)
|
rs370996990
|
|
NM_152296.5(ATP1A3):c.1928G>A (p.Ser643Asn)
|
rs2145964356
|
|
NM_152296.5(ATP1A3):c.1928G>C (p.Ser643Thr)
|
|
|
NM_152296.5(ATP1A3):c.1930C>T (p.Gln644Ter)
|
rs1555861946
|
|
NM_152296.5(ATP1A3):c.1931A>T (p.Gln644Leu)
|
rs1060500992
|
|
NM_152296.5(ATP1A3):c.1932G>A (p.Gln644=)
|
rs1599715062
|
|
NM_152296.5(ATP1A3):c.1932G>C (p.Gln644His)
|
|
|
NM_152296.5(ATP1A3):c.1943+7C>T
|
rs2145964292
|
|
NM_152296.5(ATP1A3):c.1944-16T>A
|
|
|
NM_152296.5(ATP1A3):c.1944-19C>T
|
|
|
NM_152296.5(ATP1A3):c.1947T>C (p.Asp649=)
|
|
|
NM_152296.5(ATP1A3):c.1954G>C (p.Ala652Pro)
|
rs2075173086
|
|
NM_152296.5(ATP1A3):c.1959C>A (p.Cys653Ter)
|
rs782105093
|
|
NM_152296.5(ATP1A3):c.196G>A (p.Gly66Arg)
|
rs2145983320
|
|
NM_152296.5(ATP1A3):c.1971C>A (p.Gly657=)
|
|
|
NM_152296.5(ATP1A3):c.1975G>T (p.Asp659Tyr)
|
rs375193034
|
|
NM_152296.5(ATP1A3):c.1980C>G (p.Leu660=)
|
rs1281745816
|
|
NM_152296.5(ATP1A3):c.1992C>T (p.Thr664=)
|
|
|
NM_152296.5(ATP1A3):c.2010G>A (p.Glu670=)
|
|
|
NM_152296.5(ATP1A3):c.2016G>A (p.Leu672=)
|
rs2145961560
|
|
NM_152296.5(ATP1A3):c.2019G>A (p.Gln673=)
|
|
|
NM_152296.5(ATP1A3):c.2027C>T (p.Thr676Ile)
|
|
|
NM_152296.5(ATP1A3):c.2034C>T (p.Ile678=)
|
rs2145961533
|
|
NM_152296.5(ATP1A3):c.2035G>A (p.Val679Ile)
|
rs781854249
|
|
NM_152296.5(ATP1A3):c.2035G>T (p.Val679Phe)
|
rs781854249
|
|
NM_152296.5(ATP1A3):c.2036T>C (p.Val679Ala)
|
|
|
NM_152296.5(ATP1A3):c.2049A>T (p.Thr683=)
|
|
|
NM_152296.5(ATP1A3):c.2051C>A (p.Ser684Tyr)
|
|
|
NM_152296.5(ATP1A3):c.2051C>T (p.Ser684Phe)
|
rs397515577
|
|
NM_152296.5(ATP1A3):c.2088G>A (p.Gln696=)
|
|
|
NM_152296.5(ATP1A3):c.2094+10G>A
|
|
|
NM_152296.5(ATP1A3):c.2094+10G>T
|
|
|
NM_152296.5(ATP1A3):c.2094+11C>A
|
|
|
NM_152296.5(ATP1A3):c.2094+15C>G
|
|
|
NM_152296.5(ATP1A3):c.2094+16G>A
|
|
|
NM_152296.5(ATP1A3):c.2094+2_2094+3del
|
|
|
NM_152296.5(ATP1A3):c.2094G>A (p.Gln698=)
|
rs782060744
|
|
NM_152296.5(ATP1A3):c.2095-10C>T
|
rs201423892
|
|
NM_152296.5(ATP1A3):c.2095-12C>G
|
rs781875807
|
|
NM_152296.5(ATP1A3):c.2095-17A>C
|
|
|
NM_152296.5(ATP1A3):c.2095-1G>A
|
rs2145959709
|
|
NM_152296.5(ATP1A3):c.2095-3C>T
|
rs782736392
|
|
NM_152296.5(ATP1A3):c.2095-4C>T
|
|
|
NM_152296.5(ATP1A3):c.2095-5_2095-4insCCCTTACCCTGCA
|
rs782804502
|
|
NM_152296.5(ATP1A3):c.2095-7C>T
|
rs1599712675
|
|
NM_152296.5(ATP1A3):c.2096G>A (p.Gly699Asp)
|
rs2075159832
|
|
NM_152296.5(ATP1A3):c.2100A>G (p.Ala700=)
|
|
|
NM_152296.5(ATP1A3):c.2109T>G (p.Ala703=)
|
|
|
NM_152296.5(ATP1A3):c.2116G>A (p.Gly706Arg)
|
rs782175860
|
|
NM_152296.5(ATP1A3):c.2116G>C (p.Gly706Arg)
|
|
|
NM_152296.5(ATP1A3):c.2122G>A (p.Gly708Ser)
|
rs782288524
|
|
NM_152296.5(ATP1A3):c.2124T>G (p.Gly708=)
|
|
|
NM_152296.5(ATP1A3):c.2128A>C (p.Asn710His)
|
|
|
NM_152296.5(ATP1A3):c.2131G>A (p.Asp711Asn)
|
|
|
NM_152296.5(ATP1A3):c.2136C>T (p.Ser712=)
|
rs2075159123
|
|
NM_152296.5(ATP1A3):c.2139C>T (p.Pro713=)
|
rs141362710
|
|
NM_152296.5(ATP1A3):c.213G>A (p.Thr71=)
|
rs1555866049
|
|
NM_152296.5(ATP1A3):c.213G>T (p.Thr71=)
|
rs1555866049
|
|
NM_152296.5(ATP1A3):c.2140G>A (p.Ala714Thr)
|
rs2145959562
|
|
NM_152296.5(ATP1A3):c.2144T>C (p.Leu715Pro)
|
rs2075159021
|
|
NM_152296.5(ATP1A3):c.2153C>A (p.Ala718Asp)
|
rs2075158829
|
|
NM_152296.5(ATP1A3):c.2167G>C (p.Ala723Pro)
|
|
|
NM_152296.5(ATP1A3):c.2191G>A (p.Val731Ile)
|
rs1131691813
|
|
NM_152296.5(ATP1A3):c.2195C>A (p.Ser732Tyr)
|
rs1599712523
|
|
NM_152296.5(ATP1A3):c.2203G>A (p.Ala735Thr)
|
rs2075158274
|
|
NM_152296.5(ATP1A3):c.2205A>G (p.Ala735=)
|
|
|
NM_152296.5(ATP1A3):c.2208T>C (p.Ala736=)
|
rs1599712506
|
|
NM_152296.5(ATP1A3):c.2224GAC[1] (p.Asp743del)
|
|
|
NM_152296.5(ATP1A3):c.2225A>T (p.Asp742Val)
|
rs2145959393
|
|
NM_152296.5(ATP1A3):c.2227G>A (p.Asp743Asn)
|
rs1555860790
|
|
NM_152296.5(ATP1A3):c.2227G>T (p.Asp743Tyr)
|
|
|
NM_152296.5(ATP1A3):c.2232C>A (p.Asn744Lys)
|
|
|
NM_152296.5(ATP1A3):c.2240C>A (p.Ser747Tyr)
|
|
|
NM_152296.5(ATP1A3):c.2244C>A (p.Ile748=)
|
|
|
NM_152296.5(ATP1A3):c.2245G>A (p.Val749Ile)
|
rs2075157919
|
|
NM_152296.5(ATP1A3):c.2251G>A (p.Gly751Arg)
|
rs1599712463
|
|
NM_152296.5(ATP1A3):c.2252G>A (p.Gly751Glu)
|
rs1599712456
|
|
NM_152296.5(ATP1A3):c.2256G>A (p.Val752=)
|
rs2075157702
|
|
NM_152296.5(ATP1A3):c.2258A>G (p.Glu753Gly)
|
|
|
NM_152296.5(ATP1A3):c.225C>G (p.Thr75=)
|
|
|
NM_152296.5(ATP1A3):c.2263+10C>A
|
rs1339140939
|
|
NM_152296.5(ATP1A3):c.2263+20C>A
|
|
|
NM_152296.5(ATP1A3):c.2263+8G>A
|
rs1568858162
|
|
NM_152296.5(ATP1A3):c.2263G>A (p.Gly755Ser)
|
rs557052809
|
|
NM_152296.5(ATP1A3):c.2263G>T (p.Gly755Cys)
|
rs557052809
|
|
NM_152296.5(ATP1A3):c.2264-20T>A
|
|
|
NM_152296.5(ATP1A3):c.2264-8T>C
|
|
|
NM_152296.5(ATP1A3):c.2264G>C (p.Gly755Ala)
|
rs606231434
|
|
NM_152296.5(ATP1A3):c.2265C>T (p.Gly755=)
|
|
|
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys)
|
rs1064797245
|
|
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His)
|
rs606231435
|
|
NM_152296.5(ATP1A3):c.2267G>T (p.Arg756Leu)
|
rs606231435
|
|
NM_152296.5(ATP1A3):c.2273T>G (p.Ile758Ser)
|
rs80356535
|
|
NM_152296.5(ATP1A3):c.227C>T (p.Thr76Ile)
|
rs2145983246
|
|
NM_152296.5(ATP1A3):c.2280C>T (p.Asp760=)
|
|
|
NM_152296.5(ATP1A3):c.2303A>G (p.Tyr768Cys)
|
rs1599706613
|
|
NM_152296.5(ATP1A3):c.2309T>G (p.Leu770Arg)
|
|
|
NM_152296.5(ATP1A3):c.2315G>A (p.Ser772Asn)
|
rs1064795234
|
|
NM_152296.5(ATP1A3):c.2318A>G (p.Asn773Ser)
|
rs606231437
|
|
NM_152296.5(ATP1A3):c.2324C>T (p.Pro775Leu)
|
rs886041396
|
|
NM_152296.5(ATP1A3):c.2325G>C (p.Pro775=)
|
rs150943961
|
|
NM_152296.5(ATP1A3):c.2331C>T (p.Ile777=)
|
rs782443507
|
|
NM_152296.5(ATP1A3):c.2332A>C (p.Thr778Pro)
|
rs1599706511
|
|
NM_152296.5(ATP1A3):c.2338T>C (p.Phe780Leu)
|
rs80356536
|
|
NM_152296.5(ATP1A3):c.2340C>T (p.Phe780=)
|
rs1351846628
|
|
NM_152296.5(ATP1A3):c.2353A>G (p.Met785Val)
|
|
|
NM_152296.5(ATP1A3):c.2354T>A (p.Met785Lys)
|
rs2075091235
|
|
NM_152296.5(ATP1A3):c.2364C>A (p.Ile788=)
|
|
|
NM_152296.5(ATP1A3):c.2364C>T (p.Ile788=)
|
rs1555859582
|
|
NM_152296.5(ATP1A3):c.2366C>T (p.Pro789Leu)
|
|
|
NM_152296.5(ATP1A3):c.2371C>T (p.Pro791Ser)
|
rs1599706459
|
|
NM_152296.5(ATP1A3):c.2382C>T (p.Thr794=)
|
|
|
NM_152296.5(ATP1A3):c.2393T>C (p.Leu798Pro)
|
rs1568854359
|
|
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
|
|
|
NM_152296.5(ATP1A3):c.2401G>T (p.Asp801Tyr)
|
rs80356537
|
|
NM_152296.5(ATP1A3):c.2403T>A (p.Asp801Glu)
|
rs1568854338
|
|
NM_152296.5(ATP1A3):c.2406G>A (p.Leu802=)
|
|
|
NM_152296.5(ATP1A3):c.2407G>C (p.Gly803Arg)
|
rs2075090666
|
|
NM_152296.5(ATP1A3):c.2408G>A (p.Gly803Asp)
|
rs1555859571
|
|
NM_152296.5(ATP1A3):c.2415C>G (p.Asp805Glu)
|
rs606231439
|
|
NM_152296.5(ATP1A3):c.2417T>G (p.Met806Arg)
|
rs549006436
|
|
NM_152296.5(ATP1A3):c.2418+13A>T
|
|
|
NM_152296.5(ATP1A3):c.2418+16C>T
|
rs2145947877
|
|
NM_152296.5(ATP1A3):c.2418+19C>A
|
|
|
NM_152296.5(ATP1A3):c.2418+8C>T
|
|
|
NM_152296.5(ATP1A3):c.2418+9T>G
|
rs950336124
|
|
NM_152296.5(ATP1A3):c.2419-14C>A
|
rs2075089174
|
|
NM_152296.5(ATP1A3):c.2419-14C>T
|
rs2075089174
|
|
NM_152296.5(ATP1A3):c.2419-15G>T
|
|
|
NM_152296.5(ATP1A3):c.2419G>A (p.Val807Ile)
|
|
|
NM_152296.5(ATP1A3):c.2428A>G (p.Ile810Val)
|
|
|
NM_152296.5(ATP1A3):c.2431T>C (p.Ser811Pro)
|
rs387907282
|
|
NM_152296.5(ATP1A3):c.2434C>G (p.Leu812Val)
|
|
|
NM_152296.5(ATP1A3):c.2438C>T (p.Ala813Val)
|
|
|
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys)
|
rs387907281
|
|
NM_152296.5(ATP1A3):c.2447C>G (p.Ala816Gly)
|
|
|
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys)
|
rs587777771
|
|
NM_152296.5(ATP1A3):c.2456G>A (p.Ser819Asn)
|
rs2075088473
|
|
NM_152296.5(ATP1A3):c.2461A>C (p.Ile821Leu)
|
rs2145947547
|
|
NM_152296.5(ATP1A3):c.2469G>A (p.Lys823=)
|
rs782260220
|
|
NM_152296.5(ATP1A3):c.2481G>A (p.Arg827=)
|
|
|
NM_152296.5(ATP1A3):c.2488C>A (p.Arg830=)
|
|
|
NM_152296.5(ATP1A3):c.2491A>T (p.Thr831Ser)
|
|
|
NM_152296.5(ATP1A3):c.2493G>C (p.Thr831=)
|
rs374157034
|
|
NM_152296.5(ATP1A3):c.2496C>T (p.Asp832=)
|
|
|
NM_152296.5(ATP1A3):c.24G>T (p.Lys8Asn)
|
|
|
NM_152296.5(ATP1A3):c.2509G>A (p.Glu837Lys)
|
rs2075087967
|
|
NM_152296.5(ATP1A3):c.250C>G (p.Arg84Gly)
|
rs1555866028
|
|
NM_152296.5(ATP1A3):c.2514A>G (p.Arg838=)
|
|
|
NM_152296.5(ATP1A3):c.2525T>C (p.Met842Thr)
|
|
|
NM_152296.5(ATP1A3):c.2531A>G (p.Tyr844Cys)
|
|
|
NM_152296.5(ATP1A3):c.2533G>A (p.Gly845Arg)
|
|
|
NM_152296.5(ATP1A3):c.2542+10C>G
|
rs782693337
|
|
NM_152296.5(ATP1A3):c.2542+10C>T
|
|
|
NM_152296.5(ATP1A3):c.2542+13G>C
|
|
|
NM_152296.5(ATP1A3):c.2542+17T>C
|
|
|
NM_152296.5(ATP1A3):c.2542+1G>A
|
rs606231441
|
|
NM_152296.5(ATP1A3):c.2542+1G>C
|
rs606231441
|
|
NM_152296.5(ATP1A3):c.2543-10C>T
|
|
|
NM_152296.5(ATP1A3):c.2543-13C>T
|
|
|
NM_152296.5(ATP1A3):c.2543-18C>T
|
|
|
NM_152296.5(ATP1A3):c.2543-6T>A
|
rs1599705282
|
|
NM_152296.5(ATP1A3):c.2543-9T>C
|
rs2145946094
|
|
NM_152296.5(ATP1A3):c.2560G>A (p.Gly854Ser)
|
rs2075079968
|
|
NM_152296.5(ATP1A3):c.2562T>G (p.Gly854=)
|
rs2145946002
|
|
NM_152296.5(ATP1A3):c.2563_2565del (p.Gly855del)
|
rs2075079909
|
|
NM_152296.5(ATP1A3):c.2580T>C (p.Phe860=)
|
|
|
NM_152296.5(ATP1A3):c.2582T>C (p.Val861Ala)
|
|
|
NM_152296.5(ATP1A3):c.258C>T (p.Leu86=)
|
|
|
NM_152296.5(ATP1A3):c.2600G>A (p.Gly867Asp)
|
rs606231442
|
|
NM_152296.5(ATP1A3):c.2610C>G (p.Pro870=)
|
rs35272495
|
|
NM_152296.5(ATP1A3):c.2611G>A (p.Gly871Ser)
|
|
|
NM_152296.5(ATP1A3):c.2616C>G (p.Asn872Lys)
|
rs782057287
|
|
NM_152296.5(ATP1A3):c.261C>T (p.Phe87=)
|
|
|
NM_152296.5(ATP1A3):c.2629C>T (p.Arg877Trp)
|
|
|
NM_152296.5(ATP1A3):c.262G>A (p.Gly88Arg)
|
|
|
NM_152296.5(ATP1A3):c.2631dup (p.Leu878fs)
|
rs2145945887
|
|
NM_152296.5(ATP1A3):c.2647C>A (p.Arg883Ser)
|
|
|
NM_152296.5(ATP1A3):c.2647C>T (p.Arg883Cys)
|
rs1555859299
|
|
NM_152296.5(ATP1A3):c.2649C>T (p.Arg883=)
|
|
|
NM_152296.5(ATP1A3):c.264G>A (p.Gly88=)
|
rs782670995
|
|
NM_152296.5(ATP1A3):c.2652dup (p.Val885fs)
|
rs2145945849
|
|
NM_152296.5(ATP1A3):c.2664G>A (p.Leu888=)
|
|
|
NM_152296.5(ATP1A3):c.266G>C (p.Gly89Ala)
|
rs1599725621
|
|
NM_152296.5(ATP1A3):c.2673_2678del (p.Ser891_Gly893delinsArg)
|
rs2145945805
|
|
NM_152296.5(ATP1A3):c.2677G>A (p.Gly893Arg)
|
rs1568853466
|
|
NM_152296.5(ATP1A3):c.2677G>C (p.Gly893Arg)
|
rs1568853466
|
|
NM_152296.5(ATP1A3):c.2688+16T>G
|
|
|
NM_152296.5(ATP1A3):c.2688+17del
|
|
|
NM_152296.5(ATP1A3):c.2688+6T>C
|
rs2075078801
|
|
NM_152296.5(ATP1A3):c.2688+9G>A
|
|
|
NM_152296.5(ATP1A3):c.2689-10G>A
|
|
|
NM_152296.5(ATP1A3):c.2689-11C>G
|
rs782509039
|
|
NM_152296.5(ATP1A3):c.2689-11del
|
|
|
NM_152296.5(ATP1A3):c.2689-1G>T
|
rs2145944794
|
|
NM_152296.5(ATP1A3):c.2689-20C>T
|
|
|
NM_152296.5(ATP1A3):c.2689-4G>A
|
rs2145944806
|
|
NM_152296.5(ATP1A3):c.2691A>G (p.Thr897=)
|
|
|
NM_152296.5(ATP1A3):c.2691A>T (p.Thr897=)
|
|
|
NM_152296.5(ATP1A3):c.2707G>T (p.Val903Leu)
|
|
|
NM_152296.5(ATP1A3):c.270C>T (p.Phe90=)
|
rs782539594
|
|
NM_152296.5(ATP1A3):c.2718C>T (p.Phe906=)
|
|
|
NM_152296.5(ATP1A3):c.2723G>C (p.Cys908Ser)
|
rs2075072029
|
|
NM_152296.5(ATP1A3):c.2733CTT[1] (p.Phe913del)
|
|
|
NM_152296.5(ATP1A3):c.2746A>T (p.Ile916Phe)
|
|
|
NM_152296.5(ATP1A3):c.2752GTC[1] (p.Val919del)
|
rs606231443
|
|
NM_152296.5(ATP1A3):c.2754C>T (p.Val918=)
|
|
|
NM_152296.5(ATP1A3):c.2755G>A (p.Val919Ile)
|
|
|
NM_152296.5(ATP1A3):c.2757C>T (p.Val919=)
|
rs2145944643
|
|
NM_152296.5(ATP1A3):c.2759A>C (p.Gln920Pro)
|
|
|
NM_152296.5(ATP1A3):c.2763G>A (p.Trp921Ter)
|
rs1060500993
|
|
NM_152296.5(ATP1A3):c.2766C>T (p.Ala922=)
|
|
|
NM_152296.5(ATP1A3):c.2767G>A (p.Asp923Asn)
|
rs267606670
|
|
NM_152296.5(ATP1A3):c.2767G>C (p.Asp923His)
|
rs267606670
|
|
NM_152296.5(ATP1A3):c.2767G>T (p.Asp923Tyr)
|
rs267606670
|
|
NM_152296.5(ATP1A3):c.2768A>C (p.Asp923Ala)
|
rs2075071528
|
|
NM_152296.5(ATP1A3):c.2771T>C (p.Leu924Pro)
|
rs1555859157
|
|
NM_152296.5(ATP1A3):c.2773A>G (p.Ile925Val)
|
rs2145944590
|
|
NM_152296.5(ATP1A3):c.2777T>G (p.Ile926Ser)
|
rs2075071439
|
|
NM_152296.5(ATP1A3):c.2786C>T (p.Thr929Ile)
|
rs2075071279
|
|
NM_152296.5(ATP1A3):c.2788C>T (p.Arg930Trp)
|
rs1555859150
|
|
NM_152296.5(ATP1A3):c.2789G>A (p.Arg930Gln)
|
rs2145944562
|
|
NM_152296.5(ATP1A3):c.2790G>T (p.Arg930=)
|
|
|
NM_152296.5(ATP1A3):c.2796C>T (p.Asn932=)
|
|
|
NM_152296.5(ATP1A3):c.2798C>T (p.Ser933Leu)
|
rs2145944540
|
|
NM_152296.5(ATP1A3):c.2799G>A (p.Ser933=)
|
|
|
NM_152296.5(ATP1A3):c.2799G>C (p.Ser933=)
|
rs150417636
|
|
NM_152296.5(ATP1A3):c.2801T>C (p.Val934Ala)
|
rs2075071034
|
|
NM_152296.5(ATP1A3):c.2819+14G>A
|
|
|
NM_152296.5(ATP1A3):c.2819+17_2819+18del
|
|
|
NM_152296.5(ATP1A3):c.2819+7G>T
|
rs1599704395
|
|
NM_152296.5(ATP1A3):c.281T>C (p.Leu94Pro)
|
|
|
NM_152296.5(ATP1A3):c.2820-12C>T
|
rs2145942473
|
|
NM_152296.5(ATP1A3):c.2829C>A (p.Ile943=)
|
|
|
NM_152296.5(ATP1A3):c.2829C>G (p.Ile943Met)
|
rs1330371427
|
|
NM_152296.5(ATP1A3):c.2835C>A (p.Ile945=)
|
rs2075059472
|
|
NM_152296.5(ATP1A3):c.2839G>A (p.Gly947Arg)
|
rs398122887
|
|
NM_152296.5(ATP1A3):c.2839G>C (p.Gly947Arg)
|
rs398122887
|
|
NM_152296.5(ATP1A3):c.2839G>T (p.Gly947Trp)
|
rs398122887
|
|
NM_152296.5(ATP1A3):c.2841G>T (p.Gly947=)
|
|
|
NM_152296.5(ATP1A3):c.2845T>C (p.Phe949Leu)
|
rs2145942388
|
|
NM_152296.5(ATP1A3):c.2851G>A (p.Glu951Lys)
|
rs2145942372
|
|
NM_152296.5(ATP1A3):c.2855C>T (p.Thr952Met)
|
|
|
NM_152296.5(ATP1A3):c.2856G>C (p.Thr952=)
|
|
|
NM_152296.5(ATP1A3):c.2859C>A (p.Ala953=)
|
|
|
NM_152296.5(ATP1A3):c.2860C>T (p.Leu954=)
|
|
|
NM_152296.5(ATP1A3):c.2872C>T (p.Leu958=)
|
|
|
NM_152296.5(ATP1A3):c.2877C>T (p.Ser959=)
|
|
|
NM_152296.5(ATP1A3):c.2880C>T (p.Tyr960=)
|
rs534301907
|
|
NM_152296.5(ATP1A3):c.2896G>T (p.Val966Leu)
|
|
|
NM_152296.5(ATP1A3):c.2898G>A (p.Val966=)
|
rs1555858932
|
|
NM_152296.5(ATP1A3):c.2902del (p.Leu968fs)
|
|
|
NM_152296.5(ATP1A3):c.2906G>A (p.Arg969His)
|
rs1555858925
|
|
NM_152296.5(ATP1A3):c.2908A>C (p.Met970Leu)
|
|
|
NM_152296.5(ATP1A3):c.291G>A (p.Gly97=)
|
|
|
NM_152296.5(ATP1A3):c.2921+12G>A
|
|
|
NM_152296.5(ATP1A3):c.2921+13C>T
|
|
|
NM_152296.5(ATP1A3):c.2921+17C>G
|
|
|
NM_152296.5(ATP1A3):c.2921+18C>T
|
|
|
NM_152296.5(ATP1A3):c.2921+1G>C
|
rs2075058462
|
|
NM_152296.5(ATP1A3):c.2922-17T>G
|
|
|
NM_152296.5(ATP1A3):c.2922-3C>G
|
|
|
NM_152296.5(ATP1A3):c.2922-6C>G
|
rs1185127716
|
|
NM_152296.5(ATP1A3):c.2922-6C>T
|
rs1185127716
|
|
NM_152296.5(ATP1A3):c.2922-8C>A
|
rs1555858851
|
|
NM_152296.5(ATP1A3):c.2939G>T (p.Cys980Phe)
|
|
|
NM_152296.5(ATP1A3):c.2940T>A (p.Cys980Ter)
|
|
|
NM_152296.5(ATP1A3):c.2953_2973del (p.Ser985_Tyr991del)
|
|
|
NM_152296.5(ATP1A3):c.295A>G (p.Ile99Val)
|
rs958239123
|
|
NM_152296.5(ATP1A3):c.2962A>G (p.Ile988Val)
|
|
|
NM_152296.5(ATP1A3):c.2966_2996del (p.Phe989fs)
|
|
|
NM_152296.5(ATP1A3):c.2967C>T (p.Phe989=)
|
|
|
NM_152296.5(ATP1A3):c.2969T>C (p.Val990Ala)
|
rs2145941354
|
|
NM_152296.5(ATP1A3):c.2971_2976del (p.Tyr991_Asp992del)
|
rs2145941324
|
|
NM_152296.5(ATP1A3):c.2972A>T (p.Tyr991Phe)
|
|
|
NM_152296.5(ATP1A3):c.2974G>A (p.Asp992Asn)
|
rs606231447
|
|
NM_152296.5(ATP1A3):c.2974G>C (p.Asp992His)
|
rs606231447
|
|
NM_152296.5(ATP1A3):c.2977_2982dup (p.Ile994_Arg995insGluIle)
|
|
|
NM_152296.5(ATP1A3):c.2977_2994del (p.Glu993_Ile998del)
|
|
|
NM_152296.5(ATP1A3):c.2980A>G (p.Ile994Val)
|
|
|
NM_152296.5(ATP1A3):c.2983C>T (p.Arg995Cys)
|
|
|
NM_152296.5(ATP1A3):c.2994C>T (p.Ile998=)
|
rs1555858831
|
|
NM_152296.5(ATP1A3):c.2996T>C (p.Leu999Pro)
|
rs2145941265
|
|
NM_152296.5(ATP1A3):c.2998C>T (p.Arg1000Cys)
|
rs782778986
|
|
NM_152296.5(ATP1A3):c.3008C>T (p.Pro1003Leu)
|
rs2075053042
|
|
NM_152296.5(ATP1A3):c.3011G>C (p.Gly1004Ala)
|
rs782204932
|
|
NM_152296.5(ATP1A3):c.3013+13G>A
|
|
|
NM_152296.5(ATP1A3):c.3013+13G>C
|
|
|
NM_152296.5(ATP1A3):c.3013+17A>G
|
|
|
NM_152296.5(ATP1A3):c.3013+1G>A
|
rs2145941195
|
|
NM_152296.5(ATP1A3):c.3014-18C>T
|
|
|
NM_152296.5(ATP1A3):c.3019G>A (p.Val1007Met)
|
|
|
NM_152296.5(ATP1A3):c.3022G>A (p.Glu1008Lys)
|
|
|
NM_152296.5(ATP1A3):c.3024G>A (p.Glu1008=)
|
|
|
NM_152296.5(ATP1A3):c.3027G>A (p.Lys1009=)
|
|
|
NM_152296.5(ATP1A3):c.3027G>T (p.Lys1009Asn)
|
|
|
NM_152296.5(ATP1A3):c.3035ACT[3] (p.Tyr1013dup)
|
rs397515382
|
|
NM_152296.5(ATP1A3):c.324G>A (p.Gln108=)
|
|
|
NM_152296.5(ATP1A3):c.326C>T (p.Ala109Val)
|
rs1568866568
|
|
NM_152296.5(ATP1A3):c.336G>A (p.Glu112=)
|
|
|
NM_152296.5(ATP1A3):c.354C>T (p.Asp118=)
|
|
|
NM_152296.5(ATP1A3):c.357+13A>G
|
|
|
NM_152296.5(ATP1A3):c.357+14C>T
|
|
|
NM_152296.5(ATP1A3):c.357+16C>G
|
|
|
NM_152296.5(ATP1A3):c.357+19C>T
|
|
|
NM_152296.5(ATP1A3):c.357+7G>A
|
|
|
NM_152296.5(ATP1A3):c.357+9C>T
|
|
|
NM_152296.5(ATP1A3):c.358-12A>C
|
|
|
NM_152296.5(ATP1A3):c.358-13C>A
|
|
|
NM_152296.5(ATP1A3):c.358-13C>T
|
|
|
NM_152296.5(ATP1A3):c.358-17C>A
|
rs1555865438
|
|
NM_152296.5(ATP1A3):c.358-7C>G
|
rs1555865427
|
|
NM_152296.5(ATP1A3):c.36GAA[1] (p.Lys13del)
|
|
|
NM_152296.5(ATP1A3):c.372C>T (p.Ile124=)
|
|
|
NM_152296.5(ATP1A3):c.376_387del (p.Leu126_Val129del)
|
rs2145980132
|
|
NM_152296.5(ATP1A3):c.384C>T (p.Ala128=)
|
rs782662538
|
|
NM_152296.5(ATP1A3):c.385G>A (p.Val129Met)
|
rs1555865401
|
|
NM_152296.5(ATP1A3):c.388G>T (p.Val130Leu)
|
rs1555865397
|
|
NM_152296.5(ATP1A3):c.408C>T (p.Phe136=)
|
rs2145980107
|
|
NM_152296.5(ATP1A3):c.410C>A (p.Ser137Tyr)
|
rs542652468
|
|
NM_152296.5(ATP1A3):c.410C>T (p.Ser137Phe)
|
rs542652468
|
|
NM_152296.5(ATP1A3):c.410_412del (p.Ser137del)
|
rs1555865385
|
|
NM_152296.5(ATP1A3):c.42C>G (p.Asn14Lys)
|
|
|
NM_152296.5(ATP1A3):c.459C>T (p.Asn153=)
|
|
|
NM_152296.5(ATP1A3):c.46G>A (p.Gly16Ser)
|
rs559227917
|
|
NM_152296.5(ATP1A3):c.471+18A>C
|
|
|
NM_152296.5(ATP1A3):c.471+3G>A
|
|
|
NM_152296.5(ATP1A3):c.472-11T>C
|
|
|
NM_152296.5(ATP1A3):c.472-15T>G
|
|
|
NM_152296.5(ATP1A3):c.472-17A>C
|
|
|
NM_152296.5(ATP1A3):c.472-19T>A
|
|
|
NM_152296.5(ATP1A3):c.472-5C>T
|
|
|
NM_152296.5(ATP1A3):c.480G>C (p.Leu160=)
|
|
|
NM_152296.5(ATP1A3):c.480G>T (p.Leu160=)
|
rs1599723659
|
|
NM_152296.5(ATP1A3):c.488G>A (p.Arg163Gln)
|
|
|
NM_152296.5(ATP1A3):c.4G>C (p.Gly2Arg)
|
rs2145995411
|
|
NM_152296.5(ATP1A3):c.507G>A (p.Gln169=)
|
|
|
NM_152296.5(ATP1A3):c.531C>A (p.Val177=)
|
|
|
NM_152296.5(ATP1A3):c.54G>C (p.Glu18Asp)
|
rs541121307
|
|
NM_152296.5(ATP1A3):c.551A>G (p.Lys184Arg)
|
|
|
NM_152296.5(ATP1A3):c.55C>A (p.Arg19Ser)
|
|
|
NM_152296.5(ATP1A3):c.562C>T (p.Arg188Ter)
|
rs2075282510
|
|
NM_152296.5(ATP1A3):c.569C>T (p.Pro190Leu)
|
rs1599723609
|
|
NM_152296.5(ATP1A3):c.571G>T (p.Ala191Ser)
|
rs1568865274
|
|
NM_152296.5(ATP1A3):c.577C>T (p.Leu193=)
|
|
|
NM_152296.5(ATP1A3):c.58C>T (p.Arg20Trp)
|
|
|
NM_152296.5(ATP1A3):c.594C>T (p.Ala198=)
|
rs1555865244
|
|
NM_152296.5(ATP1A3):c.597C>A (p.His199Gln)
|
|
|
NM_152296.5(ATP1A3):c.6+14C>G
|
|
|
NM_152296.5(ATP1A3):c.6+7G>A
|
rs2145995390
|
|
NM_152296.5(ATP1A3):c.606+14T>C
|
rs2075281972
|
|
NM_152296.5(ATP1A3):c.607-10C>T
|
rs1250683183
|
|
NM_152296.5(ATP1A3):c.607-13C>A
|
|
|
NM_152296.5(ATP1A3):c.607-3C>T
|
rs886054475
|
|
NM_152296.5(ATP1A3):c.607-3del
|
rs781995257
|
|
NM_152296.5(ATP1A3):c.607-4C>G
|
rs2145978840
|
|
NM_152296.5(ATP1A3):c.612C>T (p.Asp204=)
|
rs2145978813
|
|
NM_152296.5(ATP1A3):c.633A>T (p.Glu211Asp)
|
|
|
NM_152296.5(ATP1A3):c.637G>A (p.Glu213Lys)
|
|
|
NM_152296.5(ATP1A3):c.64C>T (p.Leu22=)
|
|
|
NM_152296.5(ATP1A3):c.665_666delinsTG (p.Thr222Met)
|
rs2145978673
|
|
NM_152296.5(ATP1A3):c.666T>A (p.Thr222=)
|
rs2217342
|
|
NM_152296.5(ATP1A3):c.688C>T (p.Arg230Trp)
|
|
|
NM_152296.5(ATP1A3):c.6G>A (p.Gly2=)
|
|
|
NM_152296.5(ATP1A3):c.7-10_7-3del
|
|
|
NM_152296.5(ATP1A3):c.7-13C>T
|
|
|
NM_152296.5(ATP1A3):c.7-18C>G
|
rs782562097
|
|
NM_152296.5(ATP1A3):c.7-4G>A
|
rs375990668
|
|
NM_152296.5(ATP1A3):c.7-4G>C
|
|
|
NM_152296.5(ATP1A3):c.7-5C>T
|
|
|
NM_152296.5(ATP1A3):c.7-6T>A
|
|
|
NM_152296.5(ATP1A3):c.705T>G (p.Phe235Leu)
|
rs782230953
|
|
NM_152296.5(ATP1A3):c.709A>G (p.Thr237Ala)
|
|
|
NM_152296.5(ATP1A3):c.714C>T (p.Asn238=)
|
|
|
NM_152296.5(ATP1A3):c.719T>C (p.Val240Ala)
|
rs2075276205
|
|
NM_152296.5(ATP1A3):c.724+10G>A
|
|
|
NM_152296.5(ATP1A3):c.724+12G>A
|
|
|
NM_152296.5(ATP1A3):c.724+1G>T
|
rs2075276177
|
|
NM_152296.5(ATP1A3):c.724+7C>T
|
rs1213902675
|
|
NM_152296.5(ATP1A3):c.725-15C>T
|
|
|
NM_152296.5(ATP1A3):c.725-16C>T
|
|
|
NM_152296.5(ATP1A3):c.725-3C>T
|
|
|
NM_152296.5(ATP1A3):c.725-6C>T
|
rs782647558
|
|
NM_152296.5(ATP1A3):c.725-8G>C
|
|
|
NM_152296.5(ATP1A3):c.728C>T (p.Thr243Met)
|
rs2075274884
|
|
NM_152296.5(ATP1A3):c.753G>T (p.Thr251=)
|
|
|
NM_152296.5(ATP1A3):c.760C>T (p.Arg254Cys)
|
|
|
NM_152296.5(ATP1A3):c.761G>A (p.Arg254His)
|
rs1315342682
|
|
NM_152296.5(ATP1A3):c.762C>T (p.Arg254=)
|
|
|
NM_152296.5(ATP1A3):c.768C>T (p.Val256=)
|
rs1555864895
|
|
NM_152296.5(ATP1A3):c.775C>T (p.Arg259Cys)
|
rs2145978147
|
|
NM_152296.5(ATP1A3):c.793T>A (p.Ser265Thr)
|
|
|
NM_152296.5(ATP1A3):c.797G>T (p.Gly266Val)
|
|
|
NM_152296.5(ATP1A3):c.798G>A (p.Gly266=)
|
rs2145978100
|
|
NM_152296.5(ATP1A3):c.809G>A (p.Gly270Asp)
|
rs1555864875
|
|
NM_152296.5(ATP1A3):c.819C>A (p.Pro273=)
|
|
|
NM_152296.5(ATP1A3):c.819C>T (p.Pro273=)
|
|
|
NM_152296.5(ATP1A3):c.821T>C (p.Ile274Thr)
|
rs80356532
|
|
NM_152296.5(ATP1A3):c.828C>T (p.Ile276=)
|
|
|
NM_152296.5(ATP1A3):c.829G>A (p.Glu277Lys)
|
rs80356533
|
|
NM_152296.5(ATP1A3):c.834T>C (p.Ile278=)
|
rs2145977982
|
|
NM_152296.5(ATP1A3):c.838C>T (p.His280Tyr)
|
rs2075273663
|
|
NM_152296.5(ATP1A3):c.841T>G (p.Phe281Val)
|
rs2145977959
|
|
NM_152296.5(ATP1A3):c.859G>A (p.Gly287Ser)
|
|
|
NM_152296.5(ATP1A3):c.859G>T (p.Gly287Cys)
|
|
|
NM_152296.5(ATP1A3):c.862G>A (p.Val288Met)
|
|
|
NM_152296.5(ATP1A3):c.882C>G (p.Val294=)
|
rs1555864832
|
|
NM_152296.5(ATP1A3):c.886TTC[1] (p.Phe297del)
|
rs1555864827
|
|
NM_152296.5(ATP1A3):c.893T>C (p.Ile298Thr)
|
rs2075272973
|
|
NM_152296.5(ATP1A3):c.8A>G (p.Asp3Gly)
|
|
|
NM_152296.5(ATP1A3):c.902T>G (p.Leu301Arg)
|
|
|
NM_152296.5(ATP1A3):c.909C>G (p.Leu303=)
|
rs782266448
|
|
NM_152296.5(ATP1A3):c.909C>T (p.Leu303=)
|
rs782266448
|
|
NM_152296.5(ATP1A3):c.910G>A (p.Gly304Arg)
|
rs1032312899
|
|
NM_152296.5(ATP1A3):c.918C>G (p.Thr306=)
|
rs1555864811
|
|
NM_152296.5(ATP1A3):c.927G>A (p.Glu309=)
|
|
|
NM_152296.5(ATP1A3):c.92T>C (p.Met31Thr)
|
|
|
NM_152296.5(ATP1A3):c.93+12_93+15dup
|
|
|
NM_152296.5(ATP1A3):c.93+20C>T
|
|
|
NM_152296.5(ATP1A3):c.93+4A>G
|
rs782545260
|
|
NM_152296.5(ATP1A3):c.94-19C>A
|
|
|
NM_152296.5(ATP1A3):c.94-5C>T
|
rs1599726017
|
|
NM_152296.5(ATP1A3):c.942C>T (p.Leu314=)
|
rs143797324
|
|
NM_152296.5(ATP1A3):c.946G>A (p.Gly316Ser)
|
rs869320661
|
|
NM_152296.5(ATP1A3):c.954C>A (p.Ile318=)
|
rs529241207
|
|
NM_152296.5(ATP1A3):c.954C>G (p.Ile318Met)
|
rs529241207
|
|
NM_152296.5(ATP1A3):c.954C>T (p.Ile318=)
|
|
|
NM_152296.5(ATP1A3):c.958G>C (p.Ala320Pro)
|
rs879255368
|
|
NM_152296.5(ATP1A3):c.962A>G (p.Asn321Ser)
|
|
|
NM_152296.5(ATP1A3):c.962A>T (p.Asn321Ile)
|
rs1176093601
|
|
NM_152296.5(ATP1A3):c.967C>T (p.Pro323Ser)
|
rs864309572
|
|
NM_152296.5(ATP1A3):c.968C>T (p.Pro323Leu)
|
rs1085307933
|
|
NM_152296.5(ATP1A3):c.973G>C (p.Gly325Arg)
|
rs2145977694
|
|
NM_152296.5(ATP1A3):c.977T>C (p.Leu326Pro)
|
|
|
NM_152296.5(ATP1A3):c.977T>G (p.Leu326Arg)
|
rs1131691307
|
|
NM_152296.5(ATP1A3):c.990C>T (p.Val330=)
|
rs2145977662
|
|
NM_152296.5(ATP1A3):c.992C>T (p.Thr331Ile)
|
rs2075272037
|
|
NM_152296.5(ATP1A3):c.993+11G>C
|
|
|
NM_152296.5(ATP1A3):c.993+8C>G
|
|
|
NM_152296.5(ATP1A3):c.994-16C>A
|
|
|
NM_152296.5(ATP1A3):c.994-1G>A
|
|
|
NM_153266.4(TMEM151A):c.1043G>A (p.Trp348Ter)
|
|
|
NM_153266.4(TMEM151A):c.1085A>G (p.Glu362Gly)
|
|
|
NM_153266.4(TMEM151A):c.1275dup (p.Pro426fs)
|
|
|
NM_153266.4(TMEM151A):c.166G>C (p.Gly56Arg)
|
|
|
NM_153266.4(TMEM151A):c.375C>A (p.Cys125Ter)
|
|
|
NM_153266.4(TMEM151A):c.606_607insA (p.Val203fs)
|
|
|
NM_153266.4(TMEM151A):c.758T>C (p.Leu253Pro)
|
|
|
NM_153266.4(TMEM151A):c.791T>C (p.Val264Ala)
|
|
|
NM_153266.4(TMEM151A):c.897_912del (p.Leu300fs)
|
|
|
TAF1, SVA RETROTRANSPOSON INSERTION
|
|
|