NM_152296.5(ATP1A3):c.666T>G (p.Thr222=)
|
rs2217342
|
0.93139
|
NM_152296.5(ATP1A3):c.*39C>G
|
rs919390
|
0.69962
|
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_006516.4(SLC2A1):c.-197A>C
|
rs11537640
|
0.23186
|
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_003690.5(PRKRA):c.677T>A (p.Ile226Asn)
|
rs77419724
|
0.13676
|
NM_015488.5(PNKD):c.*507G>C
|
rs7586140
|
0.09268
|
NM_003919.3(SGCE):c.391-3T>C
|
rs17166384
|
0.08209
|
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_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_015488.5(PNKD):c.652C>A (p.Arg218=)
|
rs34745867
|
0.02221
|
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_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_003690.5(PRKRA):c.*159T>C
|
rs115244185
|
0.01037
|
NM_015488.5(PNKD):c.*1723T>C
|
rs58320146
|
0.00937
|
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_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_015488.5(PNKD):c.*211C>T
|
rs189926206
|
0.00565
|
NM_015488.5(PNKD):c.*1665G>A
|
rs145193682
|
0.00564
|
NM_006516.4(SLC2A1):c.417C>T (p.Phe139=)
|
rs144538918
|
0.00517
|
NM_015488.5(PNKD):c.*451A>G
|
rs148230498
|
0.00414
|
NM_003690.5(PRKRA):c.32C>T (p.Pro11Leu)
|
rs62176112
|
0.00410
|
NM_006516.4(SLC2A1):c.*1587A>G
|
rs140560514
|
0.00366
|
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.2334G>A (p.Thr778=)
|
rs145374789
|
0.00243
|
NM_015488.5(PNKD):c.*607T>C
|
rs141201996
|
0.00217
|
NM_003690.5(PRKRA):c.*31G>A
|
rs372585947
|
0.00216
|
NM_006516.4(SLC2A1):c.*1588G>A
|
rs189700252
|
0.00206
|
NM_152296.5(ATP1A3):c.154-5C>G
|
rs191645384
|
0.00188
|
NM_006516.4(SLC2A1):c.27G>A (p.Thr9=)
|
rs34025424
|
0.00176
|
NM_003690.5(PRKRA):c.-104G>A
|
rs545506202
|
0.00168
|
NM_006516.4(SLC2A1):c.*626G>A
|
rs6413525
|
0.00163
|
NM_152296.5(ATP1A3):c.1943+12A>T
|
rs201197776
|
0.00146
|
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_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_015488.5(PNKD):c.*1549G>A
|
rs79061826
|
0.00102
|
NM_015488.4(PNKD):c.*1821C>T
|
rs142330726
|
0.00090
|
NM_006516.4(SLC2A1):c.*571C>T
|
rs6413524
|
0.00083
|
NM_006516.4(SLC2A1):c.*22G>A
|
rs2229683
|
0.00081
|
NM_006516.4(SLC2A1):c.1170C>T (p.Ile390=)
|
rs2236574
|
0.00081
|
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_006516.4(SLC2A1):c.777C>T (p.Ile259=)
|
rs78388808
|
0.00068
|
NM_015488.5(PNKD):c.*1139C>G
|
rs547847157
|
0.00068
|
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_003690.5(PRKRA):c.-124C>A
|
rs186454714
|
0.00060
|
NM_003690.5(PRKRA):c.-125G>A
|
rs190533045
|
0.00060
|
NM_015488.5(PNKD):c.*155C>T
|
rs753020574
|
0.00054
|
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_152296.5(ATP1A3):c.994-3C>G
|
rs377256877
|
0.00046
|
NM_015488.5(PNKD):c.237-9G>A
|
rs371173395
|
0.00044
|
NM_152296.5(ATP1A3):c.*236T>C
|
rs199854166
|
0.00044
|
NM_003690.5(PRKRA):c.-64C>G
|
rs576729883
|
0.00041
|
NM_015488.5(PNKD):c.*1490G>A
|
rs971155594
|
0.00041
|
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_015488.5(PNKD):c.781+12C>T
|
rs370963150
|
0.00035
|
NM_003919.3(SGCE):c.*172T>C
|
rs112954947
|
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_003690.5(PRKRA):c.*151A>T
|
rs886055203
|
0.00026
|
NM_152296.5(ATP1A3):c.-148T>G
|
rs769525784
|
0.00026
|
NM_152296.5(ATP1A3):c.1192+6C>T
|
rs367771319
|
0.00026
|
NM_003690.5(PRKRA):c.*265A>C
|
rs886055201
|
0.00021
|
NM_152296.5(ATP1A3):c.1695C>T (p.Asp565=)
|
rs375255226
|
0.00021
|
NM_015488.5(PNKD):c.323A>G (p.His108Arg)
|
rs142536637
|
0.00017
|
NM_003919.3(SGCE):c.975G>A (p.Ser325=)
|
rs145040065
|
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_003919.3(SGCE):c.391A>G (p.Ile131Val)
|
rs370609227
|
0.00015
|
NM_006516.4(SLC2A1):c.*971G>A
|
rs185891628
|
0.00015
|
NM_006516.4(SLC2A1):c.138G>C (p.Gln46His)
|
rs149998596
|
0.00014
|
NM_006516.4(SLC2A1):c.764A>C (p.Lys255Thr)
|
rs5811
|
0.00013
|
NM_152296.5(ATP1A3):c.1500C>T (p.Ala500=)
|
rs146606627
|
0.00013
|
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_015488.5(PNKD):c.*868T>C
|
rs998136972
|
0.00011
|
NM_015488.5(PNKD):c.466-3C>A
|
rs370929830
|
0.00011
|
NM_152296.5(ATP1A3):c.147T>C (p.Cys49=)
|
rs376960579
|
0.00011
|
NM_152296.5(ATP1A3):c.288C>T (p.Ile96=)
|
rs142806181
|
0.00011
|
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_152296.5(ATP1A3):c.2559C>T (p.Leu853=)
|
rs369555293
|
0.00010
|
NM_003690.5(PRKRA):c.-65C>G
|
rs557426364
|
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_152296.5(ATP1A3):c.2367G>A (p.Pro789=)
|
rs372737275
|
0.00009
|
NM_152296.5(ATP1A3):c.607-7C>A
|
rs782819736
|
0.00009
|
NM_006516.4(SLC2A1):c.987G>A (p.Glu329=)
|
rs201989024
|
0.00008
|
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_015488.5(PNKD):c.*1725T>C
|
rs149172912
|
0.00007
|
NM_152296.5(ATP1A3):c.1281G>A (p.Gln427=)
|
rs116979196
|
0.00007
|
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_006516.4(SLC2A1):c.*750T>A
|
rs886046336
|
0.00006
|
NM_006516.4(SLC2A1):c.18+12G>T
|
rs587781171
|
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.653G>A (p.Arg218Gln)
|
rs746884706
|
0.00006
|
NM_015488.5(PNKD):c.785G>A (p.Arg262Gln)
|
rs759669801
|
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.2139C>G (p.Pro713=)
|
rs141362710
|
0.00006
|
NM_152296.5(ATP1A3):c.55C>T (p.Arg19Cys)
|
rs782229302
|
0.00006
|
NM_003690.5(PRKRA):c.380C>T (p.Pro127Leu)
|
rs75862065
|
0.00005
|
NM_006516.4(SLC2A1):c.*368A>C
|
rs946103123
|
0.00005
|
NM_006516.4(SLC2A1):c.*413G>A
|
rs543194486
|
0.00005
|
NM_015488.5(PNKD):c.559C>T (p.Arg187Trp)
|
rs375550686
|
0.00005
|
NM_152296.5(ATP1A3):c.1924G>A (p.Val642Ile)
|
rs201391210
|
0.00005
|
NM_152296.5(ATP1A3):c.786C>T (p.Thr262=)
|
rs74581050
|
0.00005
|
NM_152296.5(ATP1A3):c.994-4C>G
|
rs373698149
|
0.00005
|
NM_003690.5(PRKRA):c.65+10C>T
|
rs535076601
|
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_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.653G>A (p.Arg218His)
|
rs374080633
|
0.00004
|
NM_006516.4(SLC2A1):c.657C>T (p.Asn219=)
|
rs534113895
|
0.00004
|
NM_006516.4(SLC2A1):c.906G>T (p.Gly302=)
|
rs55693364
|
0.00004
|
NM_152296.5(ATP1A3):c.1527C>T (p.Ser509=)
|
rs199625170
|
0.00004
|
NM_152296.5(ATP1A3):c.1974C>T (p.Thr658=)
|
rs145869619
|
0.00004
|
NM_152296.5(ATP1A3):c.2439G>A (p.Ala813=)
|
rs189555627
|
0.00004
|
NM_003690.5(PRKRA):c.654G>A (p.Leu218=)
|
rs763093482
|
0.00003
|
NM_003690.5(PRKRA):c.784+15T>C
|
rs367606024
|
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_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_015488.5(PNKD):c.*206C>T
|
rs886055622
|
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_152296.5(ATP1A3):c.*298C>T
|
rs781980860
|
0.00003
|
NM_152296.5(ATP1A3):c.1714A>G (p.Asn572Asp)
|
rs782415633
|
0.00003
|
NM_152296.5(ATP1A3):c.1806+14T>C
|
rs377372631
|
0.00003
|
NM_152296.5(ATP1A3):c.3013+12C>T
|
rs782424595
|
0.00003
|
NM_003919.3(SGCE):c.1025G>A (p.Arg342Gln)
|
rs764696852
|
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.1278+9C>G
|
rs550156548
|
0.00002
|
NM_006516.4(SLC2A1):c.172C>T (p.Pro58Ser)
|
rs765479065
|
0.00002
|
NM_006516.4(SLC2A1):c.668G>A (p.Arg223Gln)
|
rs397514564
|
0.00002
|
NM_006516.4(SLC2A1):c.798C>T (p.Pro266=)
|
rs201996220
|
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.1130G>A (p.Arg377Gln)
|
rs148141539
|
0.00002
|
NM_015488.5(PNKD):c.341G>A (p.Arg114His)
|
rs781140528
|
0.00002
|
NM_015488.5(PNKD):c.597C>T (p.Asp199=)
|
rs139122042
|
0.00002
|
NM_152296.5(ATP1A3):c.1605C>T (p.Leu535=)
|
rs148097195
|
0.00002
|
NM_152296.5(ATP1A3):c.207A>T (p.Ala69=)
|
rs200616931
|
0.00002
|
NM_152296.5(ATP1A3):c.2819+3G>A
|
rs782555113
|
0.00002
|
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.80T>C (p.Ile27Thr)
|
rs780703241
|
0.00001
|
NM_003919.3(SGCE):c.19T>C (p.Trp7Arg)
|
rs1271444866
|
0.00001
|
NM_003919.3(SGCE):c.556G>A (p.Ala186Thr)
|
rs746585235
|
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.1062G>A (p.Ala354=)
|
rs748983257
|
0.00001
|
NM_006516.4(SLC2A1):c.332G>T (p.Gly111Val)
|
rs1399284513
|
0.00001
|
NM_006516.4(SLC2A1):c.680-10G>T
|
rs587784394
|
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.476A>T (p.Glu159Val)
|
rs758928375
|
0.00001
|
NM_152296.5(ATP1A3):c.1080G>A (p.Thr360=)
|
rs370511776
|
0.00001
|
NM_152296.5(ATP1A3):c.1303-15C>A
|
rs782749835
|
0.00001
|
NM_152296.5(ATP1A3):c.153+7C>T
|
rs782082118
|
0.00001
|
NM_152296.5(ATP1A3):c.1905C>T (p.Ala635=)
|
rs781822752
|
0.00001
|
NM_152296.5(ATP1A3):c.2009A>G (p.Glu670Gly)
|
rs2075172328
|
0.00001
|
NM_152296.5(ATP1A3):c.2307C>T (p.Thr769=)
|
rs886054473
|
0.00001
|
NM_152296.5(ATP1A3):c.2418+9T>A
|
rs950336124
|
0.00001
|
NM_152296.5(ATP1A3):c.2688+11C>A
|
rs782430886
|
0.00001
|
NM_152296.5(ATP1A3):c.363C>T (p.Tyr121=)
|
rs373180830
|
0.00001
|
NM_152296.5(ATP1A3):c.936C>A (p.Ile312=)
|
rs782140994
|
0.00001
|
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.870C>T (p.Ser290=)
|
rs537898766
|
|
NM_003919.2(SGCE):c.-37_-33dupGGGAG
|
rs534632849
|
|
NM_003919.3(SGCE):c.1065C>T (p.Asp355=)
|
rs886062520
|
|
NM_003919.3(SGCE):c.289C>T (p.Arg97Ter)
|
rs121908489
|
|
NM_003919.3(SGCE):c.450_452del (p.Ile150del)
|
rs886062522
|
|
NM_003919.3(SGCE):c.536T>C (p.Val179Ala)
|
rs886062521
|
|
NM_003919.3(SGCE):c.55G>A (p.Gly19Ser)
|
rs767335346
|
|
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.1011C>T (p.His337=)
|
rs2229681
|
|
NM_006516.4(SLC2A1):c.132C>T (p.Tyr44=)
|
rs886046341
|
|
NM_006516.4(SLC2A1):c.218C>T (p.Ser73Phe)
|
rs1643484697
|
|
NM_006516.4(SLC2A1):c.274C>A (p.Arg92=)
|
rs202060209
|
|
NM_006516.4(SLC2A1):c.279G>A (p.Arg93=)
|
rs1392755923
|
|
NM_006516.4(SLC2A1):c.411A>G (p.Thr137=)
|
rs753500924
|
|
NM_006516.4(SLC2A1):c.588G>A (p.Pro196=)
|
rs2229682
|
|
NM_006516.4(SLC2A1):c.679+7G>C
|
rs13306757
|
|
NM_006516.4(SLC2A1):c.679+7G>T
|
rs13306757
|
|
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.1140_1145del (p.Met381_His382del)
|
rs576363906
|
|
NM_015488.5(PNKD):c.2T>G (p.Met1Arg)
|
rs775653461
|
|
NM_015488.5(PNKD):c.368C>T (p.Pro123Leu)
|
rs1694626257
|
|
NM_015488.5(PNKD):c.560G>A (p.Arg187Gln)
|
rs141506076
|
|
NM_015488.5(PNKD):c.628C>A (p.His210Asn)
|
rs886055620
|
|
NM_015488.5(PNKD):c.781+12C>G
|
rs370963150
|
|
NM_145239.3(PRRT2):c.284C>A (p.Ser95Ter)
|
|
|
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.1011C>T (p.Thr337=)
|
rs782312004
|
|
NM_152296.5(ATP1A3):c.1323G>A (p.Ala441=)
|
rs34578730
|
|
NM_152296.5(ATP1A3):c.15A>G (p.Lys5=)
|
rs886054476
|
|
NM_152296.5(ATP1A3):c.1719C>A (p.Leu573=)
|
rs886054474
|
|
NM_152296.5(ATP1A3):c.1806+12G>C
|
rs1555862070
|
|
NM_152296.5(ATP1A3):c.2136C>T (p.Ser712=)
|
rs2075159123
|
|
NM_152296.5(ATP1A3):c.270C>T (p.Phe90=)
|
rs782539594
|
|
NM_152296.5(ATP1A3):c.607-3C>T
|
rs886054475
|
|
NM_152296.5(ATP1A3):c.725-6C>T
|
rs782647558
|
|
NM_152296.5(ATP1A3):c.909C>T (p.Leu303=)
|
rs782266448
|
|