NM_033305.3(VPS13A):c.2512+116A>G
|
rs2050831
|
0.84346
|
NM_001372574.1(ATXN2):c.42G>A (p.Gln14=)
|
rs4098854
|
0.75204
|
NM_033305.3(VPS13A):c.8105+81G>A
|
rs7043232
|
0.65470
|
NM_001372574.1(ATXN2):c.-91C>T
|
rs695872
|
0.61029
|
NM_001372574.1(ATXN2):c.-162C>G
|
rs695871
|
0.60874
|
NM_033305.3(VPS13A):c.9400-34A>T
|
rs2025846
|
0.53041
|
NM_033305.3(VPS13A):c.3961-22A>G
|
rs2275549
|
0.52711
|
NM_033305.3(VPS13A):c.*1024C>T
|
rs9186
|
0.52644
|
NM_000146.4(FTL):c.163T>C (p.Leu55=)
|
rs2230267
|
0.51379
|
NM_033305.3(VPS13A):c.101-62A>G
|
rs12552898
|
0.51020
|
NM_033305.3(VPS13A):c.9069A>G (p.Gly3023=)
|
rs3737289
|
0.40290
|
NM_033305.3(VPS13A):c.9078-133A>G
|
rs10869920
|
0.39381
|
NM_033305.3(VPS13A):c.*1378C>A
|
rs13286867
|
0.30192
|
NM_033305.3(VPS13A):c.1901-215G>A
|
rs2022444
|
0.20477
|
NM_033305.3(VPS13A):c.2170+42G>A
|
rs2021998
|
0.20458
|
NM_001372574.1(ATXN2):c.3043-12G>A
|
rs2073950
|
0.19844
|
NM_033305.3(VPS13A):c.*222G>A
|
rs12343797
|
0.19772
|
NM_033305.3(VPS13A):c.6492T>C (p.Asp2164=)
|
rs7025532
|
0.18911
|
NM_001386393.1(PANK2):c.1083-14_1083-9dup
|
rs10679953
|
0.15963
|
NM_033305.3(VPS13A):c.6378+15A>T
|
rs12348097
|
0.14593
|
NM_001372574.1(ATXN2):c.57A>G (p.Gln19=)
|
rs76696028
|
0.12201
|
NM_033305.2(VPS13A):c.-181G>A
|
rs117488726
|
0.10492
|
NM_033305.3(VPS13A):c.3045G>A (p.Pro1015=)
|
rs11145366
|
0.10477
|
NM_033305.3(VPS13A):c.6379-27G>T
|
rs56156608
|
0.10471
|
NM_033305.3(VPS13A):c.2288+20T>C
|
rs12335955
|
0.10447
|
NM_002103.5(GYS1):c.*725C>T
|
rs1042265
|
0.08927
|
NM_033305.3(VPS13A):c.*565G>A
|
rs989391
|
0.08398
|
NM_003194.5(TBP):c.216A>G (p.Gln72=)
|
rs55736770
|
0.08146
|
NM_033305.3(VPS13A):c.2825-63T>G
|
rs17423029
|
0.07996
|
NM_033305.3(VPS13A):c.7026+62A>G
|
rs17424248
|
0.07843
|
NM_033305.3(VPS13A):c.615+20G>C
|
rs17723908
|
0.07780
|
NM_033305.3(VPS13A):c.2428-50G>A
|
rs17063468
|
0.07779
|
NM_033305.3(VPS13A):c.6027C>T (p.Tyr2009=)
|
rs17424026
|
0.07721
|
NM_033305.3(VPS13A):c.6379-7A>T
|
rs759586753
|
0.07351
|
NM_001386393.1(PANK2):c.2T>A
|
rs71647828
|
0.06976
|
NM_033305.3(VPS13A):c.7027-54A>G
|
rs72746022
|
0.06290
|
NM_033305.3(VPS13A):c.8571T>C (p.Tyr2857=)
|
rs17340192
|
0.05788
|
NM_033305.3(VPS13A):c.8553+31G>C
|
rs72746094
|
0.05781
|
NM_033305.3(VPS13A):c.8667+106A>G
|
rs17340234
|
0.05621
|
NM_033305.3(VPS13A):c.5583A>G (p.Thr1861=)
|
rs17423984
|
0.05526
|
NM_033305.3(VPS13A):c.3508-51A>G
|
rs1317305
|
0.05518
|
NM_033305.3(VPS13A):c.3813-171C>G
|
rs17423381
|
0.05518
|
NM_033305.3(VPS13A):c.1596-31C>T
|
rs72742601
|
0.05251
|
NM_033305.3(VPS13A):c.883-16A>C
|
rs72742584
|
0.05222
|
NM_001388492.1(HTT):c.7765+10G>A
|
rs79218467
|
0.03400
|
NM_033305.3(VPS13A):c.*942C>T
|
rs1048743
|
0.02380
|
NM_033305.3(VPS13A):c.2964+13A>G
|
rs115996561
|
0.02367
|
NM_033305.3(VPS13A):c.3108T>C (p.Ile1036=)
|
rs78046172
|
0.02340
|
NM_033305.3(VPS13A):c.1020A>G (p.Glu340=)
|
rs76751358
|
0.02305
|
NM_033305.3(VPS13A):c.2718A>G (p.Val906=)
|
rs79287753
|
0.02299
|
NM_033305.3(VPS13A):c.4469G>A (p.Arg1490Lys)
|
rs76077278
|
0.02297
|
NM_033305.3(VPS13A):c.4509A>G (p.Gln1503=)
|
rs79914457
|
0.02054
|
NM_033305.3(VPS13A):c.2693T>C (p.Val898Ala)
|
rs78048112
|
0.01850
|
NM_033305.3(VPS13A):c.9382T>C (p.Leu3128=)
|
rs34255276
|
0.01788
|
NM_033305.3(VPS13A):c.9027A>G (p.Pro3009=)
|
rs17081163
|
0.01458
|
NM_033305.3(VPS13A):c.*1186A>G
|
rs3177
|
0.01392
|
NM_033305.3(VPS13A):c.2391A>G (p.Pro797=)
|
rs73466058
|
0.01375
|
NM_033305.3(VPS13A):c.5747G>A (p.Ser1916Asn)
|
rs73467962
|
0.01369
|
NM_033305.3(VPS13A):c.5802A>G (p.Leu1934=)
|
rs73654012
|
0.01345
|
NM_033305.3(VPS13A):c.7155G>A (p.Glu2385=)
|
rs73449933
|
0.01319
|
NM_001940.4(ATN1):c.1467G>A (p.Gln489=)
|
rs782253884
|
0.01283
|
NM_033305.3(VPS13A):c.7806+6A>G
|
rs74810255
|
0.01231
|
NM_002103.5(GYS1):c.*841A>G
|
rs75797604
|
0.01139
|
NM_033305.3(VPS13A):c.5917G>A (p.Val1973Ile)
|
rs41289969
|
0.00944
|
NM_033305.3(VPS13A):c.2910A>G (p.Glu970=)
|
rs115565179
|
0.00932
|
NM_002103.5(GYS1):c.1926G>A (p.Val642=)
|
rs5451
|
0.00912
|
NM_001386393.1(PANK2):c.*218A>G
|
rs71647860
|
0.00876
|
NM_033305.3(VPS13A):c.6880-19G>C
|
rs183040221
|
0.00852
|
NM_033305.3(VPS13A):c.9370C>A (p.His3124Asn)
|
rs117983287
|
0.00817
|
NM_001386393.1(PANK2):c.189C>G (p.Pro63=)
|
rs71647829
|
0.00808
|
NM_033305.3(VPS13A):c.228T>C (p.Thr76=)
|
rs115443572
|
0.00762
|
NM_033305.3(VPS13A):c.8676C>T (p.Ile2892=)
|
rs117485827
|
0.00672
|
NM_002103.5(GYS1):c.*908G>A
|
rs117997270
|
0.00664
|
NM_033305.3(VPS13A):c.8472-12C>T
|
rs115077471
|
0.00651
|
NM_033305.3(VPS13A):c.5625A>G (p.Leu1875=)
|
rs146280301
|
0.00643
|
NM_033305.3(VPS13A):c.7053T>C (p.Ala2351=)
|
rs139753431
|
0.00641
|
NM_033305.3(VPS13A):c.3813-15T>C
|
rs145835861
|
0.00639
|
NM_002103.5(GYS1):c.2013C>T (p.Asp671=)
|
rs5452
|
0.00624
|
NM_033305.3(VPS13A):c.9400-15A>C
|
rs117688596
|
0.00615
|
NM_033305.3(VPS13A):c.3645C>A (p.Ala1215=)
|
rs138687767
|
0.00582
|
NM_033305.3(VPS13A):c.6410A>G (p.Glu2137Gly)
|
rs114232513
|
0.00574
|
NM_004993.6(ATXN3):c.916G>C (p.Gly306Arg)
|
rs12895357
|
0.00572
|
NM_033305.3(VPS13A):c.5673G>A (p.Ser1891=)
|
rs114699935
|
0.00559
|
NM_153638.4(PANK2):c.276G>A (p.Arg92=)
|
rs142832849
|
0.00544
|
NM_033305.3(VPS13A):c.4760A>G (p.Tyr1587Cys)
|
rs149840356
|
0.00532
|
NM_033305.3(VPS13A):c.8228A>C (p.Lys2743Thr)
|
rs138308486
|
0.00517
|
NM_033305.3(VPS13A):c.9150G>A (p.Pro3050=)
|
rs143089318
|
0.00488
|
NM_033305.3(VPS13A):c.5979C>T (p.Arg1993=)
|
rs41289971
|
0.00487
|
NM_033305.3(VPS13A):c.*1458T>G
|
rs139050715
|
0.00474
|
NM_033305.3(VPS13A):c.3083A>G (p.Glu1028Gly)
|
rs148656796
|
0.00425
|
NM_033305.3(VPS13A):c.2037+8C>A
|
rs41289961
|
0.00417
|
NM_002103.5(GYS1):c.*450G>A
|
rs3745693
|
0.00414
|
NM_033305.3(VPS13A):c.5184T>C (p.Ser1728=)
|
rs73467954
|
0.00400
|
NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys)
|
rs149694033
|
0.00397
|
NM_153638.4(PANK2):c.137A>T (p.Asp46Val)
|
rs148036492
|
0.00346
|
NM_033305.3(VPS13A):c.2667+12G>A
|
rs199995355
|
0.00342
|
NM_033305.3(VPS13A):c.101-7T>C
|
rs190684534
|
0.00338
|
NM_033305.3(VPS13A):c.2748A>G (p.Glu916=)
|
rs73466090
|
0.00324
|
NM_001128164.2(ATXN1):c.2150C>T (p.Ala717Val)
|
rs41267702
|
0.00279
|
NM_033305.3(VPS13A):c.775A>G (p.Asn259Asp)
|
rs41307461
|
0.00255
|
NM_033305.3(VPS13A):c.4642G>A (p.Glu1548Lys)
|
rs41289967
|
0.00213
|
NM_033305.3(VPS13A):c.3356G>A (p.Gly1119Glu)
|
rs144358567
|
0.00207
|
NM_033305.3(VPS13A):c.1758T>C (p.Ala586=)
|
rs149037185
|
0.00199
|
NM_001388492.1(HTT):c.4638C>G (p.Val1546=)
|
rs116293982
|
0.00198
|
NM_033305.3(VPS13A):c.4007A>T (p.His1336Leu)
|
rs142058362
|
0.00198
|
NM_020655.4(JPH3):c.1398T>C (p.Thr466=)
|
rs78661943
|
0.00194
|
NM_033305.3(VPS13A):c.5831-8T>C
|
rs113702270
|
0.00190
|
NM_000146.4(FTL):c.522C>T (p.His174=)
|
rs73046709
|
0.00184
|
NM_033305.3(VPS13A):c.9078-7C>T
|
rs186819389
|
0.00183
|
NM_001386393.1(PANK2):c.960T>C (p.Thr320=)
|
rs149583615
|
0.00180
|
NM_153638.4(PANK2):c.-11G>A
|
rs71647826
|
0.00179
|
NM_033305.3(VPS13A):c.7457T>C (p.Ile2486Thr)
|
rs141138349
|
0.00178
|
NM_033305.3(VPS13A):c.3078T>G (p.Thr1026=)
|
rs141835897
|
0.00171
|
NM_002103.5(GYS1):c.*301G>A
|
rs147489255
|
0.00165
|
NM_001386393.1(PANK2):c.489G>A (p.Leu163=)
|
rs71647837
|
0.00164
|
NM_002103.5(GYS1):c.1848C>T (p.Ala616=)
|
rs145789213
|
0.00163
|
NM_033305.3(VPS13A):c.4630+17A>G
|
rs371320559
|
0.00153
|
NM_033305.3(VPS13A):c.-148C>T
|
rs555695029
|
0.00150
|
NM_001386393.1(PANK2):c.*382C>T
|
rs71647861
|
0.00144
|
NM_020655.4(JPH3):c.626G>C (p.Ser209Thr)
|
rs144296512
|
0.00143
|
NM_033305.3(VPS13A):c.2170+13T>C
|
rs183087425
|
0.00143
|
NM_001372574.1(ATXN2):c.-266C>T
|
rs536609944
|
0.00138
|
NM_033305.3(VPS13A):c.4927G>A (p.Asp1643Asn)
|
rs74622901
|
0.00134
|
NM_033305.3(VPS13A):c.6690C>T (p.Asp2230=)
|
rs139115188
|
0.00115
|
NM_153638.4(PANK2):c.281G>C (p.Arg94Pro)
|
rs71647827
|
0.00115
|
NM_033305.3(VPS13A):c.4041C>T (p.Ala1347=)
|
rs74983687
|
0.00113
|
NM_033305.3(VPS13A):c.5292G>T (p.Leu1764=)
|
rs141528779
|
0.00103
|
NM_002103.5(GYS1):c.*421A>G
|
rs181566066
|
0.00098
|
NM_033305.3(VPS13A):c.101-14T>G
|
rs202024224
|
0.00098
|
NM_033305.3(VPS13A):c.5265C>T (p.Gly1755=)
|
rs143021112
|
0.00096
|
NM_033305.3(VPS13A):c.*279A>T
|
rs191865643
|
0.00095
|
NM_033305.3(VPS13A):c.2814A>G (p.Pro938=)
|
rs145346590
|
0.00093
|
NM_033305.3(VPS13A):c.*933A>G
|
rs561135773
|
0.00085
|
NM_002103.5(GYS1):c.*868A>G
|
rs571576339
|
0.00083
|
NM_003194.5(TBP):c.221_222insGC (p.Gln75fs)
|
rs1290125655
|
0.00082
|
NM_033305.3(VPS13A):c.5281C>T (p.Leu1761=)
|
rs73467955
|
0.00070
|
NM_033305.3(VPS13A):c.2201G>A (p.Ser734Asn)
|
rs117320408
|
0.00061
|
NM_033305.3(VPS13A):c.6096-7C>T
|
rs190144287
|
0.00061
|
NM_001128164.2(ATXN1):c.609G>T (p.Gln203His)
|
rs199744696
|
0.00060
|
NM_001128164.2(ATXN1):c.621G>T (p.Gln207His)
|
rs201030692
|
0.00057
|
NM_001386393.1(PANK2):c.298+15G>C
|
rs566953264
|
0.00057
|
NM_033305.3(VPS13A):c.9274C>T (p.Arg3092Cys)
|
rs146574121
|
0.00057
|
NM_001386393.1(PANK2):c.*541C>T
|
rs886056655
|
0.00055
|
NM_033305.3(VPS13A):c.7920A>G (p.Gln2640=)
|
rs200387635
|
0.00046
|
NM_033305.3(VPS13A):c.2667+11C>T
|
rs375898960
|
0.00044
|
NM_033305.3(VPS13A):c.*185A>G
|
rs773434698
|
0.00043
|
NM_000146.4(FTL):c.520C>T (p.His174Tyr)
|
rs1803578
|
0.00042
|
NM_153638.4(PANK2):c.34C>T (p.His12Tyr)
|
rs374286033
|
0.00041
|
NM_033305.3(VPS13A):c.8668-10G>C
|
rs371453974
|
0.00039
|
NM_000146.4(FTL):c.*24C>T
|
rs368083362
|
0.00037
|
NM_033305.3(VPS13A):c.4590T>G (p.Ala1530=)
|
rs141940484
|
0.00036
|
NM_033305.3(VPS13A):c.5471A>G (p.Tyr1824Cys)
|
rs144290291
|
0.00035
|
NM_001386393.1(PANK2):c.1265G>A (p.Arg422Gln)
|
rs371369186
|
0.00032
|
NM_000146.4(FTL):c.-121C>T
|
rs11553228
|
0.00031
|
NM_033305.3(VPS13A):c.3508-8T>C
|
rs376751858
|
0.00031
|
NM_033305.3(VPS13A):c.8907+10T>G
|
rs373895244
|
0.00031
|
NM_033305.3(VPS13A):c.7456A>G (p.Ile2486Val)
|
rs142981309
|
0.00030
|
NM_033305.3(VPS13A):c.2124A>G (p.Ser708=)
|
rs199682779
|
0.00029
|
NM_033305.3(VPS13A):c.1528C>T (p.Leu510=)
|
rs147954757
|
0.00028
|
NM_001386393.1(PANK2):c.780A>G (p.Glu260=)
|
rs375501114
|
0.00026
|
NM_033305.3(VPS13A):c.4390C>A (p.His1464Asn)
|
rs148891181
|
0.00026
|
NM_033305.3(VPS13A):c.516G>A (p.Pro172=)
|
rs141109675
|
0.00026
|
NM_033305.3(VPS13A):c.6905G>A (p.Ser2302Asn)
|
rs188070090
|
0.00026
|
NM_033305.3(VPS13A):c.8225A>G (p.His2742Arg)
|
rs145686832
|
0.00026
|
NM_001386393.1(PANK2):c.1231G>A (p.Gly411Arg)
|
rs137852959
|
0.00024
|
NM_033305.3(VPS13A):c.6984T>C (p.Ala2328=)
|
rs144477984
|
0.00024
|
NM_002103.5(GYS1):c.2043C>T (p.Ala681=)
|
rs142265031
|
0.00023
|
NM_033305.3(VPS13A):c.5594C>T (p.Thr1865Ile)
|
rs143449578
|
0.00023
|
NM_001386393.1(PANK2):c.50G>T (p.Gly17Val)
|
rs528149001
|
0.00022
|
NM_033305.3(VPS13A):c.621C>T (p.Ile207=)
|
rs146941948
|
0.00021
|
NM_033305.3(VPS13A):c.1453-15C>T
|
rs200334710
|
0.00020
|
NM_033305.3(VPS13A):c.6558T>C (p.Val2186=)
|
rs112596608
|
0.00018
|
NM_033305.3(VPS13A):c.6541G>A (p.Val2181Ile)
|
rs146158125
|
0.00017
|
NM_000146.4(FTL):c.169G>A (p.Glu57Lys)
|
rs201241191
|
0.00016
|
NM_033305.3(VPS13A):c.5439C>T (p.Ala1813=)
|
rs117654083
|
0.00016
|
NM_033305.3(VPS13A):c.7096C>T (p.Pro2366Ser)
|
rs200107412
|
0.00016
|
NM_002103.5(GYS1):c.*370A>C
|
rs185366453
|
0.00015
|
NM_153638.4(PANK2):c.280C>G (p.Arg94Gly)
|
rs199680057
|
0.00015
|
NM_033305.3(VPS13A):c.7273G>A (p.Val2425Ile)
|
rs189718498
|
0.00014
|
NM_033305.3(VPS13A):c.9314T>A (p.Leu3105His)
|
rs141321409
|
0.00014
|
NM_033305.3(VPS13A):c.971A>G (p.His324Arg)
|
rs138568018
|
0.00014
|
NM_153638.4(PANK2):c.12C>T (p.Leu4=)
|
rs774784800
|
0.00014
|
NM_033305.3(VPS13A):c.*1194A>C
|
rs556413345
|
0.00013
|
NM_033305.3(VPS13A):c.126A>G (p.Gln42=)
|
rs140518771
|
0.00013
|
NM_033305.3(VPS13A):c.2496A>T (p.Pro832=)
|
rs148754839
|
0.00013
|
NM_033305.3(VPS13A):c.3733A>G (p.Met1245Val)
|
rs145398548
|
0.00013
|
NM_033305.3(VPS13A):c.5047A>G (p.Thr1683Ala)
|
rs371138709
|
0.00013
|
NM_033305.3(VPS13A):c.787G>A (p.Val263Met)
|
rs372957084
|
0.00013
|
NM_000146.4(FTL):c.-177C>T
|
rs988614907
|
0.00012
|
NM_001386393.1(PANK2):c.53G>A (p.Arg18Gln)
|
rs546381069
|
0.00011
|
NM_001386393.1(PANK2):c.701A>C (p.Lys234Thr)
|
rs774676518
|
0.00011
|
NM_033305.3(VPS13A):c.1660C>T (p.Leu554Phe)
|
rs147115148
|
0.00011
|
NM_033305.3(VPS13A):c.1785+7A>G
|
rs367906505
|
0.00011
|
NM_033305.3(VPS13A):c.4979C>G (p.Thr1660Ser)
|
rs139073067
|
0.00011
|
NM_033305.3(VPS13A):c.699C>T (p.Asp233=)
|
rs138009035
|
0.00011
|
NM_033305.3(VPS13A):c.846G>A (p.Glu282=)
|
rs376954549
|
0.00011
|
NM_033305.3(VPS13A):c.9037A>G (p.Ile3013Val)
|
rs185663133
|
0.00011
|
NM_001386393.1(PANK2):c.1065C>G (p.Gly355=)
|
rs564606657
|
0.00010
|
NM_001386393.1(PANK2):c.1379C>T (p.Pro460Leu)
|
rs41279408
|
0.00010
|
NM_001386393.1(PANK2):c.887A>G (p.Lys296Arg)
|
rs763608502
|
0.00010
|
NM_033305.3(VPS13A):c.*474G>A
|
rs531360785
|
0.00010
|
NM_033305.3(VPS13A):c.-158G>C
|
rs1057515644
|
0.00010
|
NM_033305.3(VPS13A):c.2889G>A (p.Thr963=)
|
rs776098236
|
0.00010
|
NM_033305.3(VPS13A):c.3282C>T (p.Asn1094=)
|
rs372019796
|
0.00010
|
NM_033305.3(VPS13A):c.4017A>G (p.Ile1339Met)
|
rs151129933
|
0.00010
|
NM_000146.4(FTL):c.250-6A>G
|
rs370216913
|
0.00009
|
NM_001386393.1(PANK2):c.1189A>C (p.Met397Leu)
|
rs146902739
|
0.00009
|
NM_033305.3(VPS13A):c.1094A>G (p.Tyr365Cys)
|
rs146265794
|
0.00009
|
NM_033305.3(VPS13A):c.2499T>C (p.Ser833=)
|
rs372027471
|
0.00009
|
NM_033305.3(VPS13A):c.2922C>T (p.Pro974=)
|
rs373768055
|
0.00009
|
NM_033305.3(VPS13A):c.5227C>T (p.Pro1743Ser)
|
rs182495915
|
0.00009
|
NM_153638.4(PANK2):c.131G>T (p.Arg44Leu)
|
rs200253730
|
0.00009
|
NM_001386393.1(PANK2):c.369C>A (p.Ile123=)
|
rs150594400
|
0.00008
|
NM_021083.4(XK):c.554T>C (p.Leu185Ser)
|
rs782066998
|
0.00008
|
NM_033305.3(VPS13A):c.2601A>G (p.Arg867=)
|
rs145624888
|
0.00008
|
NM_033305.3(VPS13A):c.3193A>G (p.Ile1065Val)
|
rs143067406
|
0.00008
|
NM_033305.3(VPS13A):c.3556_3557dup (p.Val1187fs)
|
rs779746050
|
0.00008
|
NM_033305.3(VPS13A):c.5786A>G (p.Asn1929Ser)
|
rs748876393
|
0.00008
|
NM_033305.3(VPS13A):c.9128A>G (p.Asn3043Ser)
|
rs200755494
|
0.00008
|
NM_001386393.1(PANK2):c.1332+20G>A
|
rs762399308
|
0.00007
|
NM_033305.3(VPS13A):c.1999A>C (p.Thr667Pro)
|
rs148227344
|
0.00007
|
NM_033305.3(VPS13A):c.3706C>T (p.Leu1236=)
|
rs189138644
|
0.00007
|
NM_033305.3(VPS13A):c.6074A>G (p.Asn2025Ser)
|
rs371055567
|
0.00007
|
NM_000146.4(FTL):c.155T>G (p.Phe52Cys)
|
rs543242420
|
0.00006
|
NM_001386393.1(PANK2):c.132C>T (p.Asp44=)
|
rs781106176
|
0.00006
|
NM_001386393.1(PANK2):c.198G>A (p.Gly66=)
|
rs751025789
|
0.00006
|
NM_001386393.1(PANK2):c.624G>A (p.Ala208=)
|
rs78631398
|
0.00006
|
NM_001386393.1(PANK2):c.726C>T (p.Val242=)
|
rs375227097
|
0.00006
|
NM_001386393.1(PANK2):c.815C>T (p.Pro272Leu)
|
rs368002284
|
0.00006
|
NM_002103.5(GYS1):c.*659C>T
|
rs367578611
|
0.00006
|
NM_033305.3(VPS13A):c.1269T>C (p.Asp423=)
|
rs151069489
|
0.00006
|
NM_033305.3(VPS13A):c.3424A>G (p.Met1142Val)
|
rs750174637
|
0.00006
|
NM_033305.3(VPS13A):c.4826C>T (p.Pro1609Leu)
|
rs755454094
|
0.00006
|
NM_033305.3(VPS13A):c.7658A>T (p.Asp2553Val)
|
rs758912053
|
0.00006
|
NM_033305.3(VPS13A):c.8212-15G>A
|
rs771085531
|
0.00006
|
NM_033305.3(VPS13A):c.8766C>T (p.Ser2922=)
|
rs201517936
|
0.00006
|
NM_033305.3(VPS13A):c.9119G>A (p.Arg3040Gln)
|
rs148458576
|
0.00006
|
NM_000146.4(FTL):c.*8C>T
|
rs373178636
|
0.00005
|
NM_001372574.1(ATXN2):c.3322A>G (p.Met1108Val)
|
rs775411387
|
0.00005
|
NM_001386393.1(PANK2):c.*376A>G
|
rs746515620
|
0.00005
|
NM_001386393.1(PANK2):c.434A>G (p.Asn145Ser)
|
rs143474105
|
0.00005
|
NM_001386393.1(PANK2):c.803A>G (p.Asp268Gly)
|
rs562740927
|
0.00005
|
NM_033305.3(VPS13A):c.1621C>T (p.His541Tyr)
|
rs370950513
|
0.00005
|
NM_033305.3(VPS13A):c.2160C>T (p.Tyr720=)
|
rs748268509
|
0.00005
|
NM_033305.3(VPS13A):c.2964+5G>A
|
rs139516538
|
0.00005
|
NM_033305.3(VPS13A):c.5753A>G (p.Asp1918Gly)
|
rs377418680
|
0.00005
|
NM_033305.3(VPS13A):c.5970C>G (p.Val1990=)
|
rs191925614
|
0.00005
|
NM_033305.3(VPS13A):c.723T>C (p.Asn241=)
|
rs749945516
|
0.00005
|
NM_033305.3(VPS13A):c.755-7T>C
|
rs377234046
|
0.00005
|
NM_033305.3(VPS13A):c.8953+7A>G
|
rs375621860
|
0.00005
|
NM_033305.3(VPS13A):c.9105T>C (p.Ser3035=)
|
rs149474259
|
0.00005
|
NM_033305.3(VPS13A):c.963G>A (p.Val321=)
|
rs184828562
|
0.00005
|
NM_153638.4(PANK2):c.285C>T (p.Leu95=)
|
rs573252413
|
0.00005
|
NM_000146.4(FTL):c.87C>T (p.Tyr29=)
|
rs779990778
|
0.00004
|
NM_001386393.1(PANK2):c.*534A>G
|
rs780398812
|
0.00004
|
NM_001386393.1(PANK2):c.-21G>A
|
rs780551883
|
0.00004
|
NM_001386393.1(PANK2):c.1255A>G (p.Ile419Val)
|
rs761156912
|
0.00004
|
NM_001386393.1(PANK2):c.182C>T (p.Ser61Leu)
|
rs1375502090
|
0.00004
|
NM_001386393.1(PANK2):c.18G>A (p.Gly6=)
|
rs750766653
|
0.00004
|
NM_001386393.1(PANK2):c.291G>A (p.Lys97=)
|
rs764439399
|
0.00004
|
NM_001386393.1(PANK2):c.585G>A (p.Ser195=)
|
rs751910368
|
0.00004
|
NM_001386393.1(PANK2):c.816G>A (p.Pro272=)
|
rs772119893
|
0.00004
|
NM_001386393.1(PANK2):c.881A>T (p.Asn294Ile)
|
rs752078407
|
0.00004
|
NM_001386393.1(PANK2):c.988C>T (p.Arg330Cys)
|
rs201329683
|
0.00004
|
NM_002103.5(GYS1):c.2207G>A (p.Arg736His)
|
rs367919986
|
0.00004
|
NM_033305.3(VPS13A):c.*665C>G
|
rs41289985
|
0.00004
|
NM_033305.3(VPS13A):c.1212G>A (p.Thr404=)
|
rs367698917
|
0.00004
|
NM_033305.3(VPS13A):c.2240A>G (p.Asn747Ser)
|
rs189129300
|
0.00004
|
NM_033305.3(VPS13A):c.3466A>G (p.Ile1156Val)
|
rs369818421
|
0.00004
|
NM_033305.3(VPS13A):c.3889C>T (p.Arg1297Ter)
|
rs200280742
|
0.00004
|
NM_033305.3(VPS13A):c.3961-2A>C
|
rs1244139989
|
0.00004
|
NM_033305.3(VPS13A):c.4626A>G (p.Glu1542=)
|
rs763602189
|
0.00004
|
NM_033305.3(VPS13A):c.5898A>G (p.Val1966=)
|
rs1042736663
|
0.00004
|
NM_033305.3(VPS13A):c.6234C>T (p.Leu2078=)
|
rs571822890
|
0.00004
|
NM_033305.3(VPS13A):c.6613G>T (p.Gly2205Cys)
|
rs141164942
|
0.00004
|
NM_033305.3(VPS13A):c.6739T>A (p.Ser2247Thr)
|
rs200616248
|
0.00004
|
NM_033305.3(VPS13A):c.6840T>C (p.His2280=)
|
rs750072063
|
0.00004
|
NM_033305.3(VPS13A):c.7179G>A (p.Val2393=)
|
rs779653365
|
0.00004
|
NM_033305.3(VPS13A):c.7850C>T (p.Pro2617Leu)
|
rs200293888
|
0.00004
|
NM_033305.3(VPS13A):c.981C>T (p.Ala327=)
|
rs368425803
|
0.00004
|
NM_153638.4(PANK2):c.66G>T (p.Gly22=)
|
rs144707315
|
0.00004
|
NC_000019.10:g.48965277C>T
|
rs960442161
|
0.00003
|
NM_000146.4(FTL):c.375+4C>T
|
rs369864128
|
0.00003
|
NM_000146.4(FTL):c.474G>A (p.Pro158=)
|
rs758414077
|
0.00003
|
NM_000146.4(FTL):c.73C>T (p.Leu25=)
|
rs201971200
|
0.00003
|
NM_001386393.1(PANK2):c.1021C>T (p.Arg341Ter)
|
rs1250997630
|
0.00003
|
NM_001386393.1(PANK2):c.108G>C (p.Ser36=)
|
rs1037083433
|
0.00003
|
NM_001386393.1(PANK2):c.1112_1114del (p.Arg371_Glu372delinsGln)
|
rs766251466
|
0.00003
|
NM_001386393.1(PANK2):c.115G>A (p.Glu39Lys)
|
rs528889529
|
0.00003
|
NM_001386393.1(PANK2):c.39G>A (p.Arg13=)
|
rs1327793374
|
0.00003
|
NM_001386393.1(PANK2):c.905+14A>T
|
rs745860566
|
0.00003
|
NM_001386393.1(PANK2):c.906-4A>C
|
rs761546373
|
0.00003
|
NM_001388492.1(HTT):c.6250G>A (p.Gly2084Arg)
|
rs780493120
|
0.00003
|
NM_002103.5(GYS1):c.*611C>T
|
rs370792196
|
0.00003
|
NM_033305.3(VPS13A):c.*182G>A
|
rs983693743
|
0.00003
|
NM_033305.3(VPS13A):c.-150C>T
|
rs560445300
|
0.00003
|
NM_033305.3(VPS13A):c.1197T>C (p.Thr399=)
|
rs760025315
|
0.00003
|
NM_033305.3(VPS13A):c.2440A>G (p.Thr814Ala)
|
rs564878665
|
0.00003
|
NM_033305.3(VPS13A):c.2667+4G>A
|
rs748465954
|
0.00003
|
NM_033305.3(VPS13A):c.3146T>C (p.Ile1049Thr)
|
rs1437731472
|
0.00003
|
NM_033305.3(VPS13A):c.4539T>C (p.Phe1513=)
|
rs143022525
|
0.00003
|
NM_033305.3(VPS13A):c.4909A>C (p.Thr1637Pro)
|
rs757415947
|
0.00003
|
NM_033305.3(VPS13A):c.515C>T (p.Pro172Leu)
|
rs772689261
|
0.00003
|
NM_033305.3(VPS13A):c.5725T>C (p.Leu1909=)
|
rs139817600
|
0.00003
|
NM_033305.3(VPS13A):c.623G>A (p.Arg208Gln)
|
rs201208791
|
0.00003
|
NM_033305.3(VPS13A):c.6404dup (p.Ser2136fs)
|
rs951347128
|
0.00003
|
NM_033305.3(VPS13A):c.6667C>T (p.Arg2223Cys)
|
rs772152953
|
0.00003
|
NM_033305.3(VPS13A):c.7278A>G (p.Gln2426=)
|
rs554457655
|
0.00003
|
NM_033305.3(VPS13A):c.7340A>G (p.Tyr2447Cys)
|
rs574650880
|
0.00003
|
NM_033305.3(VPS13A):c.7715A>G (p.Lys2572Arg)
|
rs202148808
|
0.00003
|
NM_033305.3(VPS13A):c.8140A>C (p.Arg2714=)
|
rs368161466
|
0.00003
|
NM_033305.3(VPS13A):c.9077+8C>G
|
rs1325690140
|
0.00003
|
NM_153638.4(PANK2):c.37T>C (p.Trp13Arg)
|
rs971003044
|
0.00003
|
NM_153638.4(PANK2):c.95C>T (p.Thr32Ile)
|
rs530609127
|
0.00003
|
NM_000146.4(FTL):c.-46C>A
|
rs768457741
|
0.00002
|
NM_000146.4(FTL):c.319C>T (p.Leu107=)
|
rs751923171
|
0.00002
|
NM_000146.4(FTL):c.466G>A (p.Gly156Ser)
|
rs151265703
|
0.00002
|
NM_001386393.1(PANK2):c.1207-11G>C
|
rs753139032
|
0.00002
|
NM_001386393.1(PANK2):c.1253C>T (p.Thr418Met)
|
rs137852967
|
0.00002
|
NM_001386393.1(PANK2):c.1323G>A (p.Ser441=)
|
rs776868989
|
0.00002
|
NM_001386393.1(PANK2):c.203C>T (p.Ser68Leu)
|
rs137852969
|
0.00002
|
NM_001386393.1(PANK2):c.204G>C (p.Ser68=)
|
rs767219073
|
0.00002
|
NM_001386393.1(PANK2):c.294G>A (p.Arg98=)
|
rs1443740202
|
0.00002
|
NM_001386393.1(PANK2):c.466G>A (p.Val156Met)
|
rs753145257
|
0.00002
|
NM_001386393.1(PANK2):c.694T>C (p.Leu232=)
|
rs143090515
|
0.00002
|
NM_001386393.1(PANK2):c.739C>T (p.Arg247Trp)
|
rs753376100
|
0.00002
|
NM_001386393.1(PANK2):c.744A>C (p.Ser248=)
|
rs778370524
|
0.00002
|
NM_001386393.1(PANK2):c.846_847del (p.Gly283_Val284insTer)
|
rs778550409
|
0.00002
|
NM_033305.3(VPS13A):c.*1095A>G
|
rs956751748
|
0.00002
|
NM_033305.3(VPS13A):c.*481G>A
|
rs1057515664
|
0.00002
|
NM_033305.3(VPS13A):c.*503C>A
|
rs1057515665
|
0.00002
|
NM_033305.3(VPS13A):c.116A>G (p.Lys39Arg)
|
rs960135788
|
0.00002
|
NM_033305.3(VPS13A):c.1824A>G (p.Pro608=)
|
rs750307161
|
0.00002
|
NM_033305.3(VPS13A):c.2191C>T (p.Arg731Ter)
|
rs771943305
|
0.00002
|
NM_033305.3(VPS13A):c.2395A>T (p.Thr799Ser)
|
rs764645153
|
0.00002
|
NM_033305.3(VPS13A):c.2454A>G (p.Thr818=)
|
rs777234852
|
0.00002
|
NM_033305.3(VPS13A):c.3075C>T (p.Ser1025=)
|
rs916979346
|
0.00002
|
NM_033305.3(VPS13A):c.3769A>G (p.Ile1257Val)
|
rs770035274
|
0.00002
|
NM_033305.3(VPS13A):c.4470G>A (p.Arg1490=)
|
rs369976472
|
0.00002
|
NM_033305.3(VPS13A):c.5246C>T (p.Ser1749Leu)
|
rs781398633
|
0.00002
|
NM_033305.3(VPS13A):c.5721T>C (p.Tyr1907=)
|
rs773977853
|
0.00002
|
NM_033305.3(VPS13A):c.5765C>A (p.Thr1922Asn)
|
rs769409983
|
0.00002
|
NM_033305.3(VPS13A):c.588T>C (p.His196=)
|
rs192380515
|
0.00002
|
NM_033305.3(VPS13A):c.6379-12T>G
|
rs865850464
|
0.00002
|
NM_033305.3(VPS13A):c.6489C>T (p.His2163=)
|
rs773384343
|
0.00002
|
NM_033305.3(VPS13A):c.6573G>T (p.Lys2191Asn)
|
rs780035378
|
0.00002
|
NM_033305.3(VPS13A):c.7078G>A (p.Glu2360Lys)
|
rs370401336
|
0.00002
|
NM_033305.3(VPS13A):c.7127A>G (p.Asn2376Ser)
|
rs750460516
|
0.00002
|
NM_033305.3(VPS13A):c.7188C>T (p.Ala2396=)
|
rs747802503
|
0.00002
|
NM_033305.3(VPS13A):c.7294C>G (p.Leu2432Val)
|
rs892450419
|
0.00002
|
NM_033305.3(VPS13A):c.7953+1G>A
|
rs372141290
|
0.00002
|
NM_033305.3(VPS13A):c.8095T>C (p.Ser2699Pro)
|
rs758989403
|
0.00002
|
NM_033305.3(VPS13A):c.8157T>C (p.Phe2719=)
|
rs755095881
|
0.00002
|
NM_033305.3(VPS13A):c.8211+5G>A
|
rs183316143
|
0.00002
|
NM_033305.3(VPS13A):c.8350T>G (p.Ser2784Ala)
|
rs368916151
|
0.00002
|
NM_033305.3(VPS13A):c.900G>A (p.Glu300=)
|
rs750958608
|
0.00002
|
NM_033305.3(VPS13A):c.9109C>T (p.Arg3037Ter)
|
rs199807227
|
0.00002
|
NM_033305.3(VPS13A):c.9492A>G (p.Leu3164=)
|
rs538279569
|
0.00002
|
NM_153638.4(PANK2):c.114C>T (p.Thr38=)
|
rs200506776
|
0.00002
|
NM_153638.4(PANK2):c.187C>T (p.Pro63Ser)
|
rs1452787032
|
0.00002
|
NM_000146.4(FTL):c.*131A>T
|
rs374919004
|
0.00001
|
NM_000146.4(FTL):c.-134A>T
|
rs1463766648
|
0.00001
|
NM_000146.4(FTL):c.-168G>A
|
rs398124635
|
0.00001
|
NM_000146.4(FTL):c.-190C>T
|
rs1379884083
|
0.00001
|
NM_000146.4(FTL):c.-86C>T
|
rs1319264120
|
0.00001
|
NM_000146.4(FTL):c.-92T>C
|
rs886054563
|
0.00001
|
NM_000146.4(FTL):c.17G>A (p.Arg6His)
|
rs1012743580
|
0.00001
|
NM_000146.4(FTL):c.199C>T (p.Leu67=)
|
rs371965152
|
0.00001
|
NM_000146.4(FTL):c.1A>G (p.Met1Val)
|
rs139732572
|
0.00001
|
NM_000146.4(FTL):c.207G>A (p.Met69Ile)
|
rs1131691701
|
0.00001
|
NM_000146.4(FTL):c.286G>A (p.Ala96Thr)
|
rs104894685
|
0.00001
|
NM_000146.4(FTL):c.302T>C (p.Met101Thr)
|
rs750964137
|
0.00001
|
NM_000146.4(FTL):c.362G>A (p.Arg121His)
|
rs769449169
|
0.00001
|
NM_000146.4(FTL):c.375+5G>A
|
rs768867643
|
0.00001
|
NM_000146.4(FTL):c.473C>T (p.Pro158Leu)
|
rs374486686
|
0.00001
|
NM_000146.4(FTL):c.492G>T (p.Glu164Asp)
|
rs770946603
|
0.00001
|
NM_000447.3(PSEN2):c.448G>A (p.Val150Met)
|
rs866044092
|
0.00001
|
NM_001386393.1(PANK2):c.*391C>G
|
rs1273989006
|
0.00001
|
NM_001386393.1(PANK2):c.*407A>G
|
rs886056654
|
0.00001
|
NM_001386393.1(PANK2):c.-10G>A
|
rs771710781
|
0.00001
|
NM_001386393.1(PANK2):c.-20A>C
|
rs748780222
|
0.00001
|
NM_001386393.1(PANK2):c.-32C>T
|
rs1441505244
|
0.00001
|
NM_001386393.1(PANK2):c.1025A>G (p.Asp342Gly)
|
rs763496520
|
0.00001
|
NM_001386393.1(PANK2):c.1038G>A (p.Gly346=)
|
rs768111750
|
0.00001
|
NM_001386393.1(PANK2):c.1068G>T (p.Trp356Cys)
|
rs767222898
|
0.00001
|
NM_001386393.1(PANK2):c.1083-1G>T
|
rs148987163
|
0.00001
|
NM_001386393.1(PANK2):c.1083-20T>C
|
rs767566162
|
0.00001
|
NM_001386393.1(PANK2):c.1083-4A>C
|
rs562997544
|
0.00001
|
NM_001386393.1(PANK2):c.1111C>T (p.Arg371Ter)
|
rs137852968
|
0.00001
|
NM_001386393.1(PANK2):c.1167C>T (p.Asn389=)
|
rs776309099
|
0.00001
|
NM_001386393.1(PANK2):c.118C>A (p.Gln40Lys)
|
rs1421161193
|
0.00001
|
NM_001386393.1(PANK2):c.1263G>A (p.Met421Ile)
|
rs1600571977
|
0.00001
|
NM_001386393.1(PANK2):c.1322C>T (p.Ser441Leu)
|
rs967346135
|
0.00001
|
NM_001386393.1(PANK2):c.1332+10C>T
|
rs775900554
|
0.00001
|
NM_001386393.1(PANK2):c.133C>T (p.Pro45Ser)
|
rs745590703
|
0.00001
|
NM_001386393.1(PANK2):c.180G>A (p.Ala60=)
|
rs1167325149
|
0.00001
|
NM_001386393.1(PANK2):c.183G>T (p.Ser61=)
|
rs966862550
|
0.00001
|
NM_001386393.1(PANK2):c.207T>A (p.Ala69=)
|
rs750266345
|
0.00001
|
NM_001386393.1(PANK2):c.20G>A (p.Arg7Gln)
|
rs911560228
|
0.00001
|
NM_001386393.1(PANK2):c.243del (p.Ser81fs)
|
rs916725028
|
0.00001
|
NM_001386393.1(PANK2):c.258C>G (p.Val86=)
|
rs746054643
|
0.00001
|
NM_001386393.1(PANK2):c.25C>T (p.Arg9Ter)
|
rs944348405
|
0.00001
|
NM_001386393.1(PANK2):c.275A>G (p.Glu92Gly)
|
rs775816922
|
0.00001
|
NM_001386393.1(PANK2):c.298+10C>T
|
rs755815669
|
0.00001
|
NM_001386393.1(PANK2):c.298+2dup
|
rs1309365137
|
0.00001
|
NM_001386393.1(PANK2):c.324C>T (p.Ile108=)
|
rs756145631
|
0.00001
|
NM_001386393.1(PANK2):c.350A>G (p.Tyr117Cys)
|
rs1555787646
|
0.00001
|
NM_001386393.1(PANK2):c.353T>C (p.Phe118Ser)
|
rs1360807330
|
0.00001
|
NM_001386393.1(PANK2):c.370A>G (p.Thr124Ala)
|
rs137852965
|
0.00001
|
NM_001386393.1(PANK2):c.37C>T (p.Arg13Trp)
|
rs752138761
|
0.00001
|
NM_001386393.1(PANK2):c.384A>G (p.Glu128=)
|
rs1168477276
|
0.00001
|
NM_001386393.1(PANK2):c.440_441insCT (p.Tyr148fs)
|
rs1375490128
|
0.00001
|
NM_001386393.1(PANK2):c.460C>T (p.Arg154Trp)
|
rs137852961
|
0.00001
|
NM_001386393.1(PANK2):c.461G>A (p.Arg154Gln)
|
rs368682034
|
0.00001
|
NM_001386393.1(PANK2):c.474C>T (p.Leu158=)
|
rs572915908
|
0.00001
|
NM_001386393.1(PANK2):c.49G>A (p.Gly17Ser)
|
rs1214737069
|
0.00001
|
NM_001386393.1(PANK2):c.502C>T (p.Arg168Cys)
|
rs137852966
|
0.00001
|
NM_001386393.1(PANK2):c.506A>G (p.Lys169Arg)
|
rs975735144
|
0.00001
|
NM_001386393.1(PANK2):c.526C>T (p.Arg176Cys)
|
rs137852962
|
0.00001
|
NM_001386393.1(PANK2):c.54G>C (p.Arg18=)
|
rs930563925
|
0.00001
|
NM_001386393.1(PANK2):c.5G>A (p.Gly2Glu)
|
rs774558831
|
0.00001
|
NM_001386393.1(PANK2):c.600C>G (p.Val200=)
|
rs778032232
|
0.00001
|
NM_001386393.1(PANK2):c.618T>G (p.Gly206=)
|
rs755691919
|
0.00001
|
NM_001386393.1(PANK2):c.629A>G (p.Lys210Arg)
|
rs1159023197
|
0.00001
|
NM_001386393.1(PANK2):c.651+9T>C
|
rs1194885027
|
0.00001
|
NM_001386393.1(PANK2):c.66C>T (p.Pro22=)
|
rs754198411
|
0.00001
|
NM_001386393.1(PANK2):c.734A>G (p.Asn245Ser)
|
rs746484727
|
0.00001
|
NM_001386393.1(PANK2):c.765C>G (p.Asn255Lys)
|
rs1427550015
|
0.00001
|
NM_001386393.1(PANK2):c.7G>A (p.Gly3Ser)
|
rs1432572102
|
0.00001
|
NM_001386393.1(PANK2):c.905+1G>C
|
rs1135401789
|
0.00001
|
NM_001386393.1(PANK2):c.953G>A (p.Cys318Tyr)
|
rs1012947103
|
0.00001
|
NM_001386393.1(PANK2):c.958A>G (p.Thr320Ala)
|
rs748901841
|
0.00001
|
NM_001386393.1(PANK2):c.987del (p.Arg330fs)
|
rs544616523
|
0.00001
|
NM_003194.5(TBP):c.410C>T (p.Pro137Leu)
|
rs142540266
|
0.00001
|
NM_021083.4(XK):c.508+5G>A
|
rs534318896
|
0.00001
|
NM_033305.3(VPS13A):c.*1078T>G
|
rs951051787
|
0.00001
|
NM_033305.3(VPS13A):c.*1140A>T
|
rs1360751714
|
0.00001
|
NM_033305.3(VPS13A):c.*663T>C
|
rs1172989781
|
0.00001
|
NM_033305.3(VPS13A):c.1061A>G (p.His354Arg)
|
rs202123189
|
0.00001
|
NM_033305.3(VPS13A):c.1165T>C (p.Leu389=)
|
rs547171069
|
0.00001
|
NM_033305.3(VPS13A):c.1380T>C (p.Pro460=)
|
rs750046579
|
0.00001
|
NM_033305.3(VPS13A):c.1396C>T (p.Leu466Phe)
|
rs1042881230
|
0.00001
|
NM_033305.3(VPS13A):c.1614T>A (p.Asp538Glu)
|
rs1238647708
|
0.00001
|
NM_033305.3(VPS13A):c.1734T>C (p.Val578=)
|
rs201027855
|
0.00001
|
NM_033305.3(VPS13A):c.1783G>T (p.Ala595Ser)
|
rs757058290
|
0.00001
|
NM_033305.3(VPS13A):c.1929A>G (p.Lys643=)
|
rs749655544
|
0.00001
|
NM_033305.3(VPS13A):c.2089A>G (p.Asn697Asp)
|
rs549929120
|
0.00001
|
NM_033305.3(VPS13A):c.2296A>G (p.Ile766Val)
|
rs576941423
|
0.00001
|
NM_033305.3(VPS13A):c.2304A>G (p.Gly768=)
|
rs764549391
|
0.00001
|
NM_033305.3(VPS13A):c.2766C>T (p.Tyr922=)
|
rs763126524
|
0.00001
|
NM_033305.3(VPS13A):c.284-4A>G
|
rs534441636
|
0.00001
|
NM_033305.3(VPS13A):c.3211A>G (p.Asn1071Asp)
|
rs769146492
|
0.00001
|
NM_033305.3(VPS13A):c.3232G>T (p.Glu1078Ter)
|
rs1827161118
|
0.00001
|
NM_033305.3(VPS13A):c.3250A>G (p.Met1084Val)
|
rs368157358
|
0.00001
|
NM_033305.3(VPS13A):c.3420A>G (p.Thr1140=)
|
rs1274810899
|
0.00001
|
NM_033305.3(VPS13A):c.3556A>G (p.Thr1186Ala)
|
rs542933158
|
0.00001
|
NM_033305.3(VPS13A):c.3804A>C (p.Arg1268=)
|
rs527418139
|
0.00001
|
NM_033305.3(VPS13A):c.3813-6T>C
|
rs1057515654
|
0.00001
|
NM_033305.3(VPS13A):c.3961T>C (p.Phe1321Leu)
|
rs781501141
|
0.00001
|
NM_033305.3(VPS13A):c.4325A>G (p.Tyr1442Cys)
|
rs1380006812
|
0.00001
|
NM_033305.3(VPS13A):c.4586C>G (p.Thr1529Ser)
|
rs72744294
|
0.00001
|
NM_033305.3(VPS13A):c.4602T>C (p.Ser1534=)
|
rs752134753
|
0.00001
|
NM_033305.3(VPS13A):c.4915C>G (p.Pro1639Ala)
|
rs377532527
|
0.00001
|
NM_033305.3(VPS13A):c.4950A>G (p.Thr1650=)
|
rs767739134
|
0.00001
|
NM_033305.3(VPS13A):c.5191A>G (p.Ile1731Val)
|
rs1016550070
|
0.00001
|
NM_033305.3(VPS13A):c.5795C>A (p.Thr1932Asn)
|
rs1034458059
|
0.00001
|
NM_033305.3(VPS13A):c.587A>G (p.His196Arg)
|
rs750690177
|
0.00001
|
NM_033305.3(VPS13A):c.6096-3C>A
|
rs753054165
|
0.00001
|
NM_033305.3(VPS13A):c.6102C>T (p.Phe2034=)
|
rs569599272
|
0.00001
|
NM_033305.3(VPS13A):c.610C>T (p.Arg204Cys)
|
rs752509925
|
0.00001
|
NM_033305.3(VPS13A):c.6131A>G (p.Tyr2044Cys)
|
rs754391863
|
0.00001
|
NM_033305.3(VPS13A):c.6184C>T (p.Leu2062Phe)
|
rs1830592063
|
0.00001
|
NM_033305.3(VPS13A):c.622C>T (p.Arg208Ter)
|
rs119477053
|
0.00001
|
NM_033305.3(VPS13A):c.6680A>G (p.Tyr2227Cys)
|
rs1168343737
|
0.00001
|
NM_033305.3(VPS13A):c.6785T>C (p.Met2262Thr)
|
rs763311249
|
0.00001
|
NM_033305.3(VPS13A):c.6906T>A (p.Ser2302Arg)
|
rs771133301
|
0.00001
|
NM_033305.3(VPS13A):c.6978A>G (p.Ser2326=)
|
rs192942248
|
0.00001
|
NM_033305.3(VPS13A):c.7129T>C (p.Cys2377Arg)
|
rs1438436648
|
0.00001
|
NM_033305.3(VPS13A):c.7290-10A>G
|
rs777376932
|
0.00001
|
NM_033305.3(VPS13A):c.7489C>T (p.Arg2497Cys)
|
rs762732340
|
0.00001
|
NM_033305.3(VPS13A):c.7490G>A (p.Arg2497His)
|
rs766585218
|
0.00001
|
NM_033305.3(VPS13A):c.7811G>A (p.Arg2604His)
|
rs762985818
|
0.00001
|
NM_033305.3(VPS13A):c.7821T>C (p.Pro2607=)
|
rs774617189
|
0.00001
|
NM_033305.3(VPS13A):c.7851G>A (p.Pro2617=)
|
rs753711996
|
0.00001
|
NM_033305.3(VPS13A):c.7853A>G (p.His2618Arg)
|
rs558287069
|
0.00001
|
NM_033305.3(VPS13A):c.7867C>T (p.Arg2623Ter)
|
rs1055609567
|
0.00001
|
NM_033305.3(VPS13A):c.799C>T (p.Arg267Ter)
|
rs771004767
|
0.00001
|
NM_033305.3(VPS13A):c.8233A>G (p.Ile2745Val)
|
rs780530847
|
0.00001
|
NM_033305.3(VPS13A):c.8325+1G>A
|
rs1459022689
|
0.00001
|
NM_033305.3(VPS13A):c.8356A>C (p.Arg2786=)
|
rs752608628
|
0.00001
|
NM_033305.3(VPS13A):c.8649T>G (p.Phe2883Leu)
|
rs757219762
|
0.00001
|
NM_033305.3(VPS13A):c.8668-3T>C
|
rs774310931
|
0.00001
|
NM_033305.3(VPS13A):c.9077+8C>T
|
rs1325690140
|
0.00001
|
NM_033305.3(VPS13A):c.9234T>C (p.His3078=)
|
rs766370355
|
0.00001
|
NM_033305.3(VPS13A):c.927A>G (p.Ala309=)
|
rs749004984
|
0.00001
|
NM_033305.3(VPS13A):c.9403C>T (p.Arg3135Ter)
|
rs148173878
|
0.00001
|
NM_153638.4(PANK2):c.104C>T (p.Pro35Leu)
|
rs769505139
|
0.00001
|
NM_153638.4(PANK2):c.239C>T (p.Pro80Leu)
|
rs752820848
|
0.00001
|
NM_153638.4(PANK2):c.245G>A (p.Arg82His)
|
rs995058151
|
0.00001
|
NM_153638.4(PANK2):c.272C>G (p.Pro91Arg)
|
rs757651957
|
0.00001
|
NM_153638.4(PANK2):c.48G>A (p.Pro16=)
|
rs982359150
|
0.00001
|
NM_153638.4(PANK2):c.79C>A (p.Leu27Ile)
|
rs1427393180
|
0.00001
|
NM_153638.4(PANK2):c.96C>T (p.Thr32=)
|
rs398124549
|
0.00001
|
GRCh37/hg19 20p13(chr20:3888573-3888925)
|
|
|
NC_000004.11:g.3076606GCA[(?_26)]
|
|
|
NC_000004.11:g.3076606GCA[27_35]
|
|
|
NC_000004.11:g.3076606GCA[36_39]
|
|
|
NC_000004.11:g.3076606GCA[40_?]
|
|
|
NC_000009.12:g.77390734_77428010del
|
|
|
NC_000019.10:g.(?_48966261)_(48966755_?)del
|
|
|
NC_000019.10:g.48965263G>A
|
rs1034875270
|
|
NC_000019.10:g.48965263G>C
|
|
|
NC_000019.10:g.48965270G>C
|
|
|
NC_000019.10:g.48965301dup
|
|
|
NC_000019.10:g.48965303C>T
|
|
|
NC_000019.10:g.48965305C>T
|
|
|
NC_000019.10:g.48965306del
|
rs748868187
|
|
NC_000019.9:g.(?_49468350)_(49481434_?)del
|
|
|
NC_000020.10:g.(?_1959939)_(6760201_?)dup
|
|
|
NC_000020.10:g.(?_3869748)_(3891497_?)del
|
|
|
NC_000020.10:g.(?_3869748)_(3893301_?)dup
|
|
|
NC_000020.10:g.(?_3888553)_(3888945_?)del
|
|
|
NC_000020.10:g.(?_3891204)_(3893301_?)del
|
|
|
NC_000020.11:g.(?_3889081)_(3912654_?)del
|
|
|
NC_000020.11:g.3863511_3918336del
|
|
|
NG_008047.1:g.17267CAG[(54-68)]
|
|
|
NG_008165.1:g.12526CAR[46_?]
|
|
|
NG_008931.2:g.(188110_192927)_(194341_195522)del
|
|
|
NG_008931.2:g.(?_87553)_(87693_?)del
|
|
|
NM_000146.4(FTL):c.*76G>A
|
rs2038463168
|
|
NM_000146.4(FTL):c.-10C>T
|
|
|
NM_000146.4(FTL):c.-111C>T
|
|
|
NM_000146.4(FTL):c.-126C>A
|
|
|
NM_000146.4(FTL):c.-139C>T
|
rs2122429898
|
|
NM_000146.4(FTL):c.-143G>A
|
|
|
NM_000146.4(FTL):c.-144A>T
|
|
|
NM_000146.4(FTL):c.-148G>C
|
rs2038438657
|
|
NM_000146.4(FTL):c.-149G>C
|
rs398124638
|
|
NM_000146.4(FTL):c.-150C>A
|
rs2038438612
|
|
NM_000146.4(FTL):c.-151A>G
|
|
|
NM_000146.4(FTL):c.-153G>A
|
|
|
NM_000146.4(FTL):c.-153G>T
|
rs2122429855
|
|
NM_000146.4(FTL):c.-157G>A
|
rs1600120873
|
|
NM_000146.4(FTL):c.-160A>G
|
rs398124633
|
|
NM_000146.4(FTL):c.-161C>T
|
rs398124636
|
|
NM_000146.4(FTL):c.-164C>A
|
rs398124637
|
|
NM_000146.4(FTL):c.-166T>C
|
rs2122429764
|
|
NM_000146.4(FTL):c.-167C>T
|
rs2038438402
|
|
NM_000146.4(FTL):c.-168G>C
|
rs398124635
|
|
NM_000146.4(FTL):c.-168G>T
|
rs398124635
|
|
NM_000146.4(FTL):c.-170T>C
|
rs2122429714
|
|
NM_000146.4(FTL):c.-173C>G
|
rs1053572388
|
|
NM_000146.4(FTL):c.-179G>A
|
|
|
NM_000146.4(FTL):c.-181G>A
|
|
|
NM_000146.4(FTL):c.-184C>G
|
rs955876864
|
|
NM_000146.4(FTL):c.-186C>A
|
rs981348025
|
|
NM_000146.4(FTL):c.-186C>T
|
|
|
NM_000146.4(FTL):c.-189G>T
|
rs970038885
|
|
NM_000146.4(FTL):c.-193C>G
|
rs2038437773
|
|
NM_000146.4(FTL):c.-196G>C
|
rs2038437702
|
|
NM_000146.4(FTL):c.-24T>C
|
|
|
NM_000146.4(FTL):c.-51dup
|
rs2122430255
|
|
NM_000146.4(FTL):c.-56G>T
|
|
|
NM_000146.4(FTL):c.-95C>A
|
|
|
NM_000146.4(FTL):c.-9C>T
|
|
|
NM_000146.4(FTL):c.102+14A>G
|
rs2122431045
|
|
NM_000146.4(FTL):c.102+20C>T
|
|
|
NM_000146.4(FTL):c.102G>A (p.Leu34=)
|
|
|
NM_000146.4(FTL):c.103-14A>C
|
rs769222073
|
|
NM_000146.4(FTL):c.103-14A>G
|
rs769222073
|
|
NM_000146.4(FTL):c.113T>C (p.Phe38Ser)
|
rs2038445005
|
|
NM_000146.4(FTL):c.124G>A (p.Asp42Asn)
|
rs11553257
|
|
NM_000146.4(FTL):c.12G>C (p.Gln4His)
|
rs753168179
|
|
NM_000146.4(FTL):c.139G>C (p.Gly47Arg)
|
rs930186818
|
|
NM_000146.4(FTL):c.139G>T (p.Gly47Cys)
|
rs930186818
|
|
NM_000146.4(FTL):c.156C>T (p.Phe52=)
|
|
|
NM_000146.4(FTL):c.178C>T (p.Arg60Cys)
|
rs2038446533
|
|
NM_000146.4(FTL):c.181G>A (p.Glu61Lys)
|
rs2038446561
|
|
NM_000146.4(FTL):c.189C>A (p.Tyr63Ter)
|
|
|
NM_000146.4(FTL):c.190G>A (p.Glu64Lys)
|
rs11553225
|
|
NM_000146.4(FTL):c.194G>A (p.Arg65His)
|
rs1555797038
|
|
NM_000146.4(FTL):c.218G>T (p.Arg73Leu)
|
rs2122432219
|
|
NM_000146.4(FTL):c.229G>A (p.Ala77Thr)
|
|
|
NM_000146.4(FTL):c.232C>T (p.Leu78Phe)
|
rs751857518
|
|
NM_000146.4(FTL):c.234C>T (p.Leu78=)
|
rs559383814
|
|
NM_000146.4(FTL):c.247A>G (p.Lys83Glu)
|
rs770196454
|
|
NM_000146.4(FTL):c.249+3A>G
|
rs2038447850
|
|
NM_000146.4(FTL):c.249+4A>G
|
|
|
NM_000146.4(FTL):c.249+6T>C
|
|
|
NM_000146.4(FTL):c.249+9T>G
|
rs2122432498
|
|
NM_000146.4(FTL):c.253C>T (p.Pro85Ser)
|
|
|
NM_000146.4(FTL):c.256G>C (p.Ala86Pro)
|
rs773293832
|
|
NM_000146.4(FTL):c.261A>C (p.Glu87Asp)
|
rs762786833
|
|
NM_000146.4(FTL):c.263A>G (p.Asp88Gly)
|
rs2122433970
|
|
NM_000146.4(FTL):c.271G>T (p.Gly91Cys)
|
|
|
NM_000146.4(FTL):c.285C>T (p.Asp95=)
|
|
|
NM_000146.4(FTL):c.288C>T (p.Ala96=)
|
|
|
NM_000146.4(FTL):c.311A>G (p.Glu104Gly)
|
rs2038454487
|
|
NM_000146.4(FTL):c.324C>T (p.Asn108=)
|
rs754652110
|
|
NM_000146.4(FTL):c.336G>A (p.Leu112=)
|
|
|
NM_000146.4(FTL):c.375+15C>A
|
|
|
NM_000146.4(FTL):c.375T>C (p.His125=)
|
|
|
NM_000146.4(FTL):c.376-11T>C
|
|
|
NM_000146.4(FTL):c.376-15C>T
|
|
|
NM_000146.4(FTL):c.376C>G (p.Leu126Val)
|
rs775308103
|
|
NM_000146.4(FTL):c.379T>C (p.Cys127Arg)
|
rs2122435637
|
|
NM_000146.4(FTL):c.391G>A (p.Glu131Lys)
|
|
|
NM_000146.4(FTL):c.417G>A (p.Val139=)
|
|
|
NM_000146.4(FTL):c.42G>A (p.Glu14=)
|
rs1600121247
|
|
NM_000146.4(FTL):c.439_442dup (p.His148fs)
|
rs2122435944
|
|
NM_000146.4(FTL):c.442dup (p.His148fs)
|
rs2122435950
|
|
NM_000146.4(FTL):c.458dup (p.His153fs)
|
rs587776840
|
|
NM_000146.4(FTL):c.460_461delinsCCA (p.Arg154fs)
|
|
|
NM_000146.4(FTL):c.460dup (p.Arg154fs)
|
rs2122436083
|
|
NM_000146.4(FTL):c.463C>T (p.Leu155=)
|
|
|
NM_000146.4(FTL):c.469_484dup (p.Leu162fs)
|
rs398124640
|
|
NM_000146.4(FTL):c.485_489dup (p.Glu164fs)
|
rs2122436225
|
|
NM_000146.4(FTL):c.488G>A (p.Gly163Asp)
|
|
|
NM_000146.4(FTL):c.498_499dup (p.Phe167fs)
|
rs1114167274
|
|
NM_000146.4(FTL):c.501C>T (p.Phe167=)
|
|
|
NM_000146.4(FTL):c.502G>T (p.Glu168Ter)
|
rs768204975
|
|
NM_000146.4(FTL):c.515_516del (p.Leu172fs)
|
|
|
NM_000146.4(FTL):c.523G>T (p.Asp175Tyr)
|
rs1422409524
|
|
NM_000146.4(FTL):c.71A>T (p.Tyr24Phe)
|
|
|
NM_000332.4(ATXN1):c.589CAG[36_38] (p.Gln208[36_38])
|
rs193922926
|
|
NM_001007026.1(ATN1):c.1462CAG[(6_35)] (p.Gln488[(6-35)])
|
|
|
NM_001007026.1(ATN1):c.1462CAG[(90_93)] (p.Gln488[(90-93)])
|
|
|
NM_001007026.1(ATN1):c.1462CAG[17] (p.Gln488[17])
|
rs60216939
|
|
NM_001007026.1(ATN1):c.1462CAG[49_55] (p.Gln488[49_55])
|
rs60216939
|
|
NM_001128164.2(ATXN1):c.1502C>T (p.Ala501Val)
|
|
|
NM_001128164.2(ATXN1):c.1804G>T (p.Ala602Ser)
|
rs1760808820
|
|
NM_001128164.2(ATXN1):c.588GCA[14] (p.Gln208dup)
|
rs193922926
|
|
NM_001128164.2(ATXN1):c.636GCA[16] (p.Gln224_Gln225dup)
|
rs751421308
|
|
NM_001128164.2(ATXN1):c.772G>T (p.Gly258Cys)
|
rs144962740
|
|
NM_001271604.4(JPH3):c.431CWG[41_?]
|
|
|
NM_001372574.1(ATXN2):c.1648C>G (p.Pro550Ala)
|
|
|
NM_001372574.1(ATXN2):c.1921A>C (p.Lys641Gln)
|
rs867381855
|
|
NM_001372574.1(ATXN2):c.289-11del
|
rs144235483
|
|
NM_001372574.1(ATXN2):c.289-11dup
|
rs144235483
|
|
NM_001372574.1(ATXN2):c.494T>C (p.Met165Thr)
|
rs762930876
|
|
NM_001372574.1(ATXN2):c.59AGC[8] (p.Gln28del)
|
rs10560189
|
|
NM_001386393.1(PANK2):c.*40G>C
|
rs1131692166
|
|
NM_001386393.1(PANK2):c.*468T>C
|
rs541731517
|
|
NM_001386393.1(PANK2):c.*63dup
|
rs143725982
|
|
NM_001386393.1(PANK2):c.-11G>A
|
|
|
NM_001386393.1(PANK2):c.-13A>G
|
|
|
NM_001386393.1(PANK2):c.-16G>A
|
|
|
NM_001386393.1(PANK2):c.-21G>T
|
rs780551883
|
|
NM_001386393.1(PANK2):c.-22G>C
|
|
|
NM_001386393.1(PANK2):c.-28C>A
|
|
|
NM_001386393.1(PANK2):c.-28C>G
|
|
|
NM_001386393.1(PANK2):c.-28C>T
|
rs544239478
|
|
NM_001386393.1(PANK2):c.-29C>G
|
|
|
NM_001386393.1(PANK2):c.-29C>T
|
rs573948434
|
|
NM_001386393.1(PANK2):c.-31T>G
|
|
|
NM_001386393.1(PANK2):c.-37C>G
|
|
|
NM_001386393.1(PANK2):c.-3A>C
|
|
|
NM_001386393.1(PANK2):c.-40T>C
|
rs555683860
|
|
NM_001386393.1(PANK2):c.-40T>G
|
|
|
NM_001386393.1(PANK2):c.-4G>C
|
|
|
NM_001386393.1(PANK2):c.-5C>T
|
rs746763863
|
|
NM_001386393.1(PANK2):c.-7T>C
|
|
|
NM_001386393.1(PANK2):c.1002C>G (p.Thr334=)
|
rs2146872723
|
|
NM_001386393.1(PANK2):c.1008G>A (p.Val336=)
|
|
|
NM_001386393.1(PANK2):c.1009G>T (p.Asp337Tyr)
|
|
|
NM_001386393.1(PANK2):c.100G>T (p.Val34Phe)
|
rs547164263
|
|
NM_001386393.1(PANK2):c.1010A>G (p.Asp337Gly)
|
rs1568575238
|
|
NM_001386393.1(PANK2):c.1024G>T (p.Asp342Tyr)
|
rs1568575271
|
|
NM_001386393.1(PANK2):c.1025A>C (p.Asp342Ala)
|
|
|
NM_001386393.1(PANK2):c.1025A>T (p.Asp342Val)
|
|
|
NM_001386393.1(PANK2):c.1026T>C (p.Asp342=)
|
|
|
NM_001386393.1(PANK2):c.102C>G (p.Val34=)
|
|
|
NM_001386393.1(PANK2):c.1035A>T (p.Gly345=)
|
|
|
NM_001386393.1(PANK2):c.1041C>T (p.Asp347=)
|
|
|
NM_001386393.1(PANK2):c.104C>A (p.Ser35Ter)
|
|
|
NM_001386393.1(PANK2):c.1057C>T (p.Leu353=)
|
|
|
NM_001386393.1(PANK2):c.105G>T (p.Ser35=)
|
|
|
NM_001386393.1(PANK2):c.1061C>G (p.Pro354Arg)
|
|
|
NM_001386393.1(PANK2):c.1071T>C (p.Ala357=)
|
|
|
NM_001386393.1(PANK2):c.1080A>C (p.Ser360=)
|
|
|
NM_001386393.1(PANK2):c.1082+11A>G
|
|
|
NM_001386393.1(PANK2):c.1082+12TG[4]
|
|
|
NM_001386393.1(PANK2):c.1082+19del
|
|
|
NM_001386393.1(PANK2):c.1082+1G>C
|
rs1600548506
|
|
NM_001386393.1(PANK2):c.1082+20C>T
|
|
|
NM_001386393.1(PANK2):c.1082+9_1082+10dup
|
|
|
NM_001386393.1(PANK2):c.1082G>A (p.Ser361Asn)
|
rs137852963
|
|
NM_001386393.1(PANK2):c.1083-10C>T
|
rs1442070301
|
|
NM_001386393.1(PANK2):c.1083-12C>T
|
|
|
NM_001386393.1(PANK2):c.1083-13T>C
|
|
|
NM_001386393.1(PANK2):c.1083-13del
|
|
|
NM_001386393.1(PANK2):c.1083-14_1083-13insCCCCCT
|
rs1555789541
|
|
NM_001386393.1(PANK2):c.1083-14_1083-13insCCCCT
|
|
|
NM_001386393.1(PANK2):c.1083-16T>G
|
|
|
NM_001386393.1(PANK2):c.1083-18T>C
|
|
|
NM_001386393.1(PANK2):c.1083-1G>A
|
|
|
NM_001386393.1(PANK2):c.1083-3_1083-2del
|
rs760705943
|
|
NM_001386393.1(PANK2):c.1083-5C>T
|
|
|
NM_001386393.1(PANK2):c.1083-9_1083-8insTTCCCT
|
|
|
NM_001386393.1(PANK2):c.1086del (p.Phe362fs)
|
rs2146887806
|
|
NM_001386393.1(PANK2):c.108G>A (p.Ser36=)
|
|
|
NM_001386393.1(PANK2):c.1090_1096del (p.Gly363_Asn364insTer)
|
|
|
NM_001386393.1(PANK2):c.1094T>C (p.Met365Thr)
|
|
|
NM_001386393.1(PANK2):c.1096_1099del (p.Met366fs)
|
rs1555789557
|
|
NM_001386393.1(PANK2):c.1097T>A (p.Met366Lys)
|
|
|
NM_001386393.1(PANK2):c.1100G>A (p.Ser367Asn)
|
|
|
NM_001386393.1(PANK2):c.1102A>G (p.Lys368Glu)
|
rs559623184
|
|
NM_001386393.1(PANK2):c.1111C>G (p.Arg371Gly)
|
|
|
NM_001386393.1(PANK2):c.1112G>A (p.Arg371Gln)
|
rs1241995212
|
|
NM_001386393.1(PANK2):c.1112G>C (p.Arg371Pro)
|
rs1241995212
|
|
NM_001386393.1(PANK2):c.1119T>C (p.Ala373=)
|
|
|
NM_001386393.1(PANK2):c.1122C>G (p.Val374=)
|
|
|
NM_001386393.1(PANK2):c.1129G>A (p.Glu377Lys)
|
|
|
NM_001386393.1(PANK2):c.1139C>T (p.Ala380Val)
|
|
|
NM_001386393.1(PANK2):c.1140C>G (p.Ala380=)
|
|
|
NM_001386393.1(PANK2):c.1143A>C (p.Arg381Ser)
|
|
|
NM_001386393.1(PANK2):c.1145C>T (p.Ala382Val)
|
|
|
NM_001386393.1(PANK2):c.1151T>C (p.Leu384Ser)
|
rs111863748
|
|
NM_001386393.1(PANK2):c.1152G>C (p.Leu384Phe)
|
|
|
NM_001386393.1(PANK2):c.115G>T (p.Glu39Ter)
|
rs528889529
|
|
NM_001386393.1(PANK2):c.1160T>C (p.Ile387Thr)
|
rs2090571848
|
|
NM_001386393.1(PANK2):c.116A>G (p.Glu39Gly)
|
|
|
NM_001386393.1(PANK2):c.1170C>T (p.Asn390=)
|
|
|
NM_001386393.1(PANK2):c.1171_1174dup (p.Gly392fs)
|
|
|
NM_001386393.1(PANK2):c.1172T>A (p.Ile391Asn)
|
|
|
NM_001386393.1(PANK2):c.1172T>C (p.Ile391Thr)
|
|
|
NM_001386393.1(PANK2):c.1184C>A (p.Ala395Glu)
|
|
|
NM_001386393.1(PANK2):c.1188A>T (p.Arg396Ser)
|
|
|
NM_001386393.1(PANK2):c.1189del (p.Met397fs)
|
|
|
NM_001386393.1(PANK2):c.118C>T (p.Gln40Ter)
|
|
|
NM_001386393.1(PANK2):c.1195G>A (p.Ala399Thr)
|
|
|
NM_001386393.1(PANK2):c.1196C>T (p.Ala399Val)
|
|
|
NM_001386393.1(PANK2):c.119A>G (p.Gln40Arg)
|
|
|
NM_001386393.1(PANK2):c.11T>C (p.Leu4Ser)
|
rs2090073827
|
|
NM_001386393.1(PANK2):c.1201A>G (p.Asn401Asp)
|
|
|
NM_001386393.1(PANK2):c.1206+11A>C
|
|
|
NM_001386393.1(PANK2):c.1206+11A>G
|
|
|
NM_001386393.1(PANK2):c.1206+19_1206+22del
|
|
|
NM_001386393.1(PANK2):c.1206+9A>G
|
|
|
NM_001386393.1(PANK2):c.1207-11G>A
|
|
|
NM_001386393.1(PANK2):c.1207-12dup
|
rs1252234662
|
|
NM_001386393.1(PANK2):c.1207-16T>C
|
|
|
NM_001386393.1(PANK2):c.1207-17T>C
|
rs1483932495
|
|
NM_001386393.1(PANK2):c.1207-20C>A
|
|
|
NM_001386393.1(PANK2):c.1207-3C>G
|
rs370766524
|
|
NM_001386393.1(PANK2):c.1207-5C>T
|
|
|
NM_001386393.1(PANK2):c.1207-6G>A
|
|
|
NM_001386393.1(PANK2):c.1216C>G (p.Gln406Glu)
|
rs1183095944
|
|
NM_001386393.1(PANK2):c.1248_1256del (p.Asn417_Ile419del)
|
|
|
NM_001386393.1(PANK2):c.1254G>A (p.Thr418=)
|
|
|
NM_001386393.1(PANK2):c.1257C>T (p.Ile419=)
|
|
|
NM_001386393.1(PANK2):c.1261_1262del (p.Met421fs)
|
|
|
NM_001386393.1(PANK2):c.1264C>T (p.Arg422Trp)
|
|
|
NM_001386393.1(PANK2):c.126C>T (p.Ala42=)
|
|
|
NM_001386393.1(PANK2):c.1275A>G (p.Ala425=)
|
|
|
NM_001386393.1(PANK2):c.1277A>G (p.Tyr426Cys)
|
rs1193865095
|
|
NM_001386393.1(PANK2):c.1278T>C (p.Tyr426=)
|
|
|
NM_001386393.1(PANK2):c.1285G>T (p.Asp429Tyr)
|
|
|
NM_001386393.1(PANK2):c.129G>C (p.Gly43=)
|
|
|
NM_001386393.1(PANK2):c.1309A>G (p.Lys437Glu)
|
rs2146893030
|
|
NM_001386393.1(PANK2):c.1314A>G (p.Ala438=)
|
|
|
NM_001386393.1(PANK2):c.1318T>C (p.Phe440Leu)
|
rs138402319
|
|
NM_001386393.1(PANK2):c.1329C>T (p.His443=)
|
|
|
NM_001386393.1(PANK2):c.1330G>A (p.Glu444Lys)
|
|
|
NM_001386393.1(PANK2):c.1332+14T>G
|
|
|
NM_001386393.1(PANK2):c.1332+16C>A
|
rs142997448
|
|
NM_001386393.1(PANK2):c.1332+16C>T
|
|
|
NM_001386393.1(PANK2):c.1332+17G>A
|
|
|
NM_001386393.1(PANK2):c.1332+8G>C
|
|
|
NM_001386393.1(PANK2):c.1333-12A>G
|
rs749532706
|
|
NM_001386393.1(PANK2):c.1333-16G>T
|
|
|
NM_001386393.1(PANK2):c.1333-29_1333-8del
|
|
|
NM_001386393.1(PANK2):c.1333-4T>A
|
|
|
NM_001386393.1(PANK2):c.1333-8T>C
|
|
|
NM_001386393.1(PANK2):c.1336T>C (p.Tyr446His)
|
rs2090674561
|
|
NM_001386393.1(PANK2):c.1352_1371del (p.Gly451fs)
|
rs2090674600
|
|
NM_001386393.1(PANK2):c.1354G>A (p.Ala452Thr)
|
rs886056652
|
|
NM_001386393.1(PANK2):c.1357C>T (p.Leu453Phe)
|
|
|
NM_001386393.1(PANK2):c.1358T>A (p.Leu453His)
|
|
|
NM_001386393.1(PANK2):c.1368G>A (p.Leu456=)
|
|
|
NM_001386393.1(PANK2):c.1370T>A (p.Leu457Ter)
|
|
|
NM_001386393.1(PANK2):c.1380G>A (p.Pro460=)
|
|
|
NM_001386393.1(PANK2):c.1380G>T (p.Pro460=)
|
|
|
NM_001386393.1(PANK2):c.1383A>G (p.Ter461Trp)
|
|
|
NM_001386393.1(PANK2):c.141G>T (p.Gly47=)
|
|
|
NM_001386393.1(PANK2):c.141_155dup (p.Pro52_Leu53insArgArgGlnGluPro)
|
|
|
NM_001386393.1(PANK2):c.142C>G (p.Arg48Gly)
|
rs1416234460
|
|
NM_001386393.1(PANK2):c.145C>A (p.Arg49=)
|
|
|
NM_001386393.1(PANK2):c.157C>T (p.Leu53=)
|
|
|
NM_001386393.1(PANK2):c.15C>T (p.Leu5=)
|
|
|
NM_001386393.1(PANK2):c.165C>T (p.Arg55=)
|
|
|
NM_001386393.1(PANK2):c.171G>C (p.Ala57=)
|
|
|
NM_001386393.1(PANK2):c.175_182del (p.Ser59fs)
|
rs755653150
|
|
NM_001386393.1(PANK2):c.176_177delinsCT (p.Ser59Thr)
|
rs1568550594
|
|
NM_001386393.1(PANK2):c.17G>C (p.Gly6Ala)
|
rs767712182
|
|
NM_001386393.1(PANK2):c.183G>A (p.Ser61=)
|
|
|
NM_001386393.1(PANK2):c.185_197del (p.Val62fs)
|
|
|
NM_001386393.1(PANK2):c.186G>A (p.Val62=)
|
|
|
NM_001386393.1(PANK2):c.186G>T (p.Val62=)
|
|
|
NM_001386393.1(PANK2):c.189C>T (p.Pro63=)
|
rs71647829
|
|
NM_001386393.1(PANK2):c.189_201del (p.Ala64fs)
|
|
|
NM_001386393.1(PANK2):c.192G>A (p.Ala64=)
|
|
|
NM_001386393.1(PANK2):c.192G>C (p.Ala64=)
|
|
|
NM_001386393.1(PANK2):c.192G>T (p.Ala64=)
|
|
|
NM_001386393.1(PANK2):c.195C>G (p.Val65=)
|
|
|
NM_001386393.1(PANK2):c.198G>T (p.Gly66=)
|
|
|
NM_001386393.1(PANK2):c.201C>A (p.Ala67=)
|
rs756936934
|
|
NM_001386393.1(PANK2):c.201C>T (p.Ala67=)
|
rs756936934
|
|
NM_001386393.1(PANK2):c.203C>A (p.Ser68Ter)
|
rs137852969
|
|
NM_001386393.1(PANK2):c.204G>T (p.Ser68=)
|
|
|
NM_001386393.1(PANK2):c.215C>A (p.Thr72Lys)
|
rs755932521
|
|
NM_001386393.1(PANK2):c.215_216insA (p.Arg73fs)
|
|
|
NM_001386393.1(PANK2):c.216G>A (p.Thr72=)
|
|
|
NM_001386393.1(PANK2):c.21_22delinsTT (p.Gln8Ter)
|
rs2146804492
|
|
NM_001386393.1(PANK2):c.225del (p.Arg76fs)
|
|
|
NM_001386393.1(PANK2):c.233G>C (p.Gly78Ala)
|
rs1380924374
|
|
NM_001386393.1(PANK2):c.233G>T (p.Gly78Val)
|
rs1380924374
|
|
NM_001386393.1(PANK2):c.234C>G (p.Gly78=)
|
|
|
NM_001386393.1(PANK2):c.236C>T (p.Ser79Phe)
|
|
|
NM_001386393.1(PANK2):c.240C>G (p.Tyr80Ter)
|
rs137852960
|
|
NM_001386393.1(PANK2):c.240C>T (p.Tyr80=)
|
|
|
NM_001386393.1(PANK2):c.240_241del (p.Tyr80_Ser81delinsTer)
|
rs1600477446
|
|
NM_001386393.1(PANK2):c.243C>T (p.Ser81=)
|
|
|
NM_001386393.1(PANK2):c.246C>T (p.Gly82=)
|
|
|
NM_001386393.1(PANK2):c.252C>A (p.Thr84=)
|
|
|
NM_001386393.1(PANK2):c.252C>T (p.Thr84=)
|
|
|
NM_001386393.1(PANK2):c.255G>A (p.Ser85=)
|
rs375741383
|
|
NM_001386393.1(PANK2):c.255G>T (p.Ser85=)
|
rs375741383
|
|
NM_001386393.1(PANK2):c.25C>G (p.Arg9Gly)
|
rs944348405
|
|
NM_001386393.1(PANK2):c.261C>T (p.Ser87=)
|
|
|
NM_001386393.1(PANK2):c.262del (p.Arg88fs)
|
|
|
NM_001386393.1(PANK2):c.270C>T (p.Arg90=)
|
|
|
NM_001386393.1(PANK2):c.273C>G (p.Val91=)
|
|
|
NM_001386393.1(PANK2):c.273C>T (p.Val91=)
|
|
|
NM_001386393.1(PANK2):c.279C>T (p.Ser93=)
|
|
|
NM_001386393.1(PANK2):c.27A>G (p.Arg9=)
|
|
|
NM_001386393.1(PANK2):c.27A>T (p.Arg9=)
|
|
|
NM_001386393.1(PANK2):c.280C>T (p.Leu94=)
|
|
|
NM_001386393.1(PANK2):c.298+11C>T
|
|
|
NM_001386393.1(PANK2):c.298+11del
|
|
|
NM_001386393.1(PANK2):c.298+12G>C
|
|
|
NM_001386393.1(PANK2):c.298+12G>T
|
|
|
NM_001386393.1(PANK2):c.298+13T>A
|
|
|
NM_001386393.1(PANK2):c.298+18C>T
|
|
|
NM_001386393.1(PANK2):c.298+20C>T
|
|
|
NM_001386393.1(PANK2):c.298+3_298+6del
|
|
|
NM_001386393.1(PANK2):c.298+9T>C
|
|
|
NM_001386393.1(PANK2):c.299-12T>C
|
|
|
NM_001386393.1(PANK2):c.299-12T>G
|
|
|
NM_001386393.1(PANK2):c.299-14del
|
|
|
NM_001386393.1(PANK2):c.299-1G>A
|
|
|
NM_001386393.1(PANK2):c.299-6A>G
|
|
|
NM_001386393.1(PANK2):c.299-9C>G
|
rs2090412291
|
|
NM_001386393.1(PANK2):c.308G>A (p.Trp103Ter)
|
|
|
NM_001386393.1(PANK2):c.30G>A (p.Leu10=)
|
|
|
NM_001386393.1(PANK2):c.314G>A (p.Gly105Glu)
|
rs762879569
|
|
NM_001386393.1(PANK2):c.317T>A (p.Leu106Gln)
|
|
|
NM_001386393.1(PANK2):c.317dup (p.Asp107fs)
|
rs2146859220
|
|
NM_001386393.1(PANK2):c.322A>C (p.Ile108Leu)
|
rs188211202
|
|
NM_001386393.1(PANK2):c.325G>A (p.Gly109Ser)
|
|
|
NM_001386393.1(PANK2):c.327T>G (p.Gly109=)
|
|
|
NM_001386393.1(PANK2):c.336G>A (p.Leu112=)
|
|
|
NM_001386393.1(PANK2):c.336G>T (p.Leu112=)
|
|
|
NM_001386393.1(PANK2):c.339C>T (p.Val113=)
|
|
|
NM_001386393.1(PANK2):c.33G>A (p.Leu11=)
|
|
|
NM_001386393.1(PANK2):c.345G>A (p.Leu115=)
|
|
|
NM_001386393.1(PANK2):c.348A>G (p.Val116=)
|
|
|
NM_001386393.1(PANK2):c.348A>T (p.Val116=)
|
|
|
NM_001386393.1(PANK2):c.34C>T (p.Leu12=)
|
|
|
NM_001386393.1(PANK2):c.358C>T (p.Pro120Ser)
|
rs2146859332
|
|
NM_001386393.1(PANK2):c.367A>G (p.Ile123Val)
|
rs2146859343
|
|
NM_001386393.1(PANK2):c.369C>T (p.Ile123=)
|
|
|
NM_001386393.1(PANK2):c.371_380del (p.Thr124fs)
|
|
|
NM_001386393.1(PANK2):c.381A>G (p.Glu127=)
|
|
|
NM_001386393.1(PANK2):c.383A>G (p.Glu128Gly)
|
rs2090413830
|
|
NM_001386393.1(PANK2):c.387G>A (p.Glu129=)
|
|
|
NM_001386393.1(PANK2):c.393A>C (p.Glu131Asp)
|
|
|
NM_001386393.1(PANK2):c.394G>C (p.Val132Leu)
|
|
|
NM_001386393.1(PANK2):c.39G>T (p.Arg13=)
|
|
|
NM_001386393.1(PANK2):c.40A>G (p.Met14Val)
|
rs1368727421
|
|
NM_001386393.1(PANK2):c.415_495dup (p.Arg139_Leu165dup)
|
rs1568569482
|
|
NM_001386393.1(PANK2):c.422A>G (p.Tyr141Cys)
|
|
|
NM_001386393.1(PANK2):c.425T>A (p.Leu142Gln)
|
|
|
NM_001386393.1(PANK2):c.425T>G (p.Leu142Arg)
|
rs2146859529
|
|
NM_001386393.1(PANK2):c.431C>T (p.Ser144Phe)
|
|
|
NM_001386393.1(PANK2):c.441T>G (p.Ala147=)
|
|
|
NM_001386393.1(PANK2):c.444T>C (p.Tyr148=)
|
|
|
NM_001386393.1(PANK2):c.445G>A (p.Gly149Arg)
|
|
|
NM_001386393.1(PANK2):c.450T>C (p.Ser150=)
|
|
|
NM_001386393.1(PANK2):c.451A>G (p.Thr151Ala)
|
|
|
NM_001386393.1(PANK2):c.45A>C (p.Gly15=)
|
|
|
NM_001386393.1(PANK2):c.465C>T (p.Asp155=)
|
|
|
NM_001386393.1(PANK2):c.475G>A (p.Glu159Lys)
|
rs778263915
|
|
NM_001386393.1(PANK2):c.477G>A (p.Glu159=)
|
|
|
NM_001386393.1(PANK2):c.47G>A (p.Gly16Glu)
|
|
|
NM_001386393.1(PANK2):c.47G>C (p.Gly16Ala)
|
rs3737084
|
|
NM_001386393.1(PANK2):c.47G>T (p.Gly16Val)
|
|
|
NM_001386393.1(PANK2):c.493C>T (p.Leu165=)
|
|
|
NM_001386393.1(PANK2):c.493_494del (p.Leu165fs)
|
rs750440690
|
|
NM_001386393.1(PANK2):c.498_499del (p.Cys166fs)
|
|
|
NM_001386393.1(PANK2):c.502_503delinsAC (p.Arg168Thr)
|
|
|
NM_001386393.1(PANK2):c.503G>A (p.Arg168His)
|
|
|
NM_001386393.1(PANK2):c.519C>A (p.His173Gln)
|
rs2090416889
|
|
NM_001386393.1(PANK2):c.521_525dup (p.Arg176fs)
|
rs1600534514
|
|
NM_001386393.1(PANK2):c.522T>C (p.Phe174=)
|
|
|
NM_001386393.1(PANK2):c.526C>G (p.Arg176Gly)
|
|
|
NM_001386393.1(PANK2):c.52C>G (p.Arg18Gly)
|
|
|
NM_001386393.1(PANK2):c.55C>G (p.Leu19Val)
|
rs772205776
|
|
NM_001386393.1(PANK2):c.55C>T (p.Leu19Phe)
|
rs772205776
|
|
NM_001386393.1(PANK2):c.566G>A (p.Gly189Asp)
|
rs975841680
|
|
NM_001386393.1(PANK2):c.579del (p.Phe194fs)
|
rs1568569941
|
|
NM_001386393.1(PANK2):c.57C>T (p.Leu19=)
|
|
|
NM_001386393.1(PANK2):c.597T>G (p.Thr199=)
|
|
|
NM_001386393.1(PANK2):c.600_606del (p.Phe201fs)
|
rs879253712
|
|
NM_001386393.1(PANK2):c.604dup (p.Cys202fs)
|
|
|
NM_001386393.1(PANK2):c.606T>A (p.Cys202Ter)
|
rs1555787799
|
|
NM_001386393.1(PANK2):c.609C>A (p.Ala203=)
|
|
|
NM_001386393.1(PANK2):c.60C>T (p.Gly20=)
|
|
|
NM_001386393.1(PANK2):c.624G>T (p.Ala208=)
|
rs78631398
|
|
NM_001386393.1(PANK2):c.632T>G (p.Phe211Cys)
|
|
|
NM_001386393.1(PANK2):c.635A>G (p.Glu212Gly)
|
|
|
NM_001386393.1(PANK2):c.636G>A (p.Glu212=)
|
|
|
NM_001386393.1(PANK2):c.636G>T (p.Glu212Asp)
|
|
|
NM_001386393.1(PANK2):c.63G>A (p.Ala21=)
|
|
|
NM_001386393.1(PANK2):c.63G>C (p.Ala21=)
|
|
|
NM_001386393.1(PANK2):c.651+16C>G
|
|
|
NM_001386393.1(PANK2):c.651+19A>G
|
|
|
NM_001386393.1(PANK2):c.651+3A>C
|
rs1131691472
|
|
NM_001386393.1(PANK2):c.651+3A>G
|
rs1131691472
|
|
NM_001386393.1(PANK2):c.651+7A>G
|
|
|
NM_001386393.1(PANK2):c.652-11T>C
|
|
|
NM_001386393.1(PANK2):c.652-12A>G
|
|
|
NM_001386393.1(PANK2):c.652-14T>C
|
|
|
NM_001386393.1(PANK2):c.652-15C>T
|
|
|
NM_001386393.1(PANK2):c.652-16T>A
|
|
|
NM_001386393.1(PANK2):c.652-18A>C
|
rs200451247
|
|
NM_001386393.1(PANK2):c.652-18A>G
|
|
|
NM_001386393.1(PANK2):c.652-19C>T
|
|
|
NM_001386393.1(PANK2):c.652-1G>C
|
rs2146866687
|
|
NM_001386393.1(PANK2):c.652-2A>G
|
|
|
NM_001386393.1(PANK2):c.652-7A>G
|
|
|
NM_001386393.1(PANK2):c.652-9_652-5del
|
|
|
NM_001386393.1(PANK2):c.652A>G (p.Ile218Val)
|
|
|
NM_001386393.1(PANK2):c.655G>T (p.Gly219Cys)
|
rs2146866714
|
|
NM_001386393.1(PANK2):c.664C>T (p.Gln222Ter)
|
rs777414421
|
|
NM_001386393.1(PANK2):c.675A>G (p.Lys225=)
|
|
|
NM_001386393.1(PANK2):c.676C>T (p.Leu226=)
|
|
|
NM_001386393.1(PANK2):c.67A>C (p.Met23Leu)
|
rs2146804825
|
|
NM_001386393.1(PANK2):c.67A>G (p.Met23Val)
|
rs2146804825
|
|
NM_001386393.1(PANK2):c.687A>G (p.Leu229=)
|
|
|
NM_001386393.1(PANK2):c.695T>C (p.Leu232Ser)
|
|
|
NM_001386393.1(PANK2):c.696G>A (p.Leu232=)
|
|
|
NM_001386393.1(PANK2):c.6G>A (p.Gly2=)
|
|
|
NM_001386393.1(PANK2):c.6G>C (p.Gly2=)
|
|
|
NM_001386393.1(PANK2):c.706A>G (p.Ile236Val)
|
rs2090454168
|
|
NM_001386393.1(PANK2):c.710T>C (p.Leu237Ser)
|
|
|
NM_001386393.1(PANK2):c.713A>T (p.Tyr238Phe)
|
|
|
NM_001386393.1(PANK2):c.714C>T (p.Tyr238=)
|
|
|
NM_001386393.1(PANK2):c.717T>C (p.Ile239=)
|
rs1742717583
|
|
NM_001386393.1(PANK2):c.721T>C (p.Ser241Pro)
|
rs137852964
|
|
NM_001386393.1(PANK2):c.723A>G (p.Ser241=)
|
|
|
NM_001386393.1(PANK2):c.728G>A (p.Gly243Glu)
|
rs2146866985
|
|
NM_001386393.1(PANK2):c.731T>G (p.Phe244Cys)
|
|
|
NM_001386393.1(PANK2):c.738A>G (p.Gly246=)
|
|
|
NM_001386393.1(PANK2):c.73C>T (p.Arg25Cys)
|
|
|
NM_001386393.1(PANK2):c.740G>C (p.Arg247Pro)
|
rs754521581
|
|
NM_001386393.1(PANK2):c.747G>A (p.Gln249=)
|
|
|
NM_001386393.1(PANK2):c.750C>T (p.Cys250=)
|
|
|
NM_001386393.1(PANK2):c.752A>G (p.Tyr251Cys)
|
rs1568572918
|
|
NM_001386393.1(PANK2):c.755_758del (p.Tyr252fs)
|
rs1600542260
|
|
NM_001386393.1(PANK2):c.756C>A (p.Tyr252Ter)
|
rs1600542275
|
|
NM_001386393.1(PANK2):c.759T>C (p.Phe253=)
|
|
|
NM_001386393.1(PANK2):c.766C>A (p.Pro256Thr)
|
rs777624606
|
|
NM_001386393.1(PANK2):c.766C>G (p.Pro256Ala)
|
rs777624606
|
|
NM_001386393.1(PANK2):c.767del (p.Pro256fs)
|
rs753400880
|
|
NM_001386393.1(PANK2):c.769G>T (p.Ala257Ser)
|
rs1568572979
|
|
NM_001386393.1(PANK2):c.774T>C (p.Asp258=)
|
|
|
NM_001386393.1(PANK2):c.776C>G (p.Ser259Cys)
|
|
|
NM_001386393.1(PANK2):c.783G>A (p.Lys261=)
|
|
|
NM_001386393.1(PANK2):c.785G>A (p.Cys262Tyr)
|
rs149907912
|
|
NM_001386393.1(PANK2):c.78C>A (p.His26Gln)
|
rs2090076533
|
|
NM_001386393.1(PANK2):c.802G>T (p.Asp268Tyr)
|
|
|
NM_001386393.1(PANK2):c.806del (p.Asp268_Leu269insTer)
|
|
|
NM_001386393.1(PANK2):c.813T>C (p.Asn271=)
|
|
|
NM_001386393.1(PANK2):c.817T>C (p.Tyr273His)
|
|
|
NM_001386393.1(PANK2):c.819T>C (p.Tyr273=)
|
|
|
NM_001386393.1(PANK2):c.81C>T (p.Gly27=)
|
|
|
NM_001386393.1(PANK2):c.832dup (p.Val278fs)
|
rs2090456897
|
|
NM_001386393.1(PANK2):c.838A>G (p.Ile280Val)
|
|
|
NM_001386393.1(PANK2):c.845C>T (p.Ser282Leu)
|
rs2090457090
|
|
NM_001386393.1(PANK2):c.849G>A (p.Gly283=)
|
|
|
NM_001386393.1(PANK2):c.854G>A (p.Ser285Asn)
|
rs2146867465
|
|
NM_001386393.1(PANK2):c.858C>T (p.Ile286=)
|
|
|
NM_001386393.1(PANK2):c.865G>C (p.Val289Leu)
|
rs1011938873
|
|
NM_001386393.1(PANK2):c.868T>C (p.Tyr290His)
|
rs1183615976
|
|
NM_001386393.1(PANK2):c.873C>A (p.Ser291=)
|
|
|
NM_001386393.1(PANK2):c.873C>G (p.Ser291=)
|
|
|
NM_001386393.1(PANK2):c.876A>G (p.Lys292=)
|
|
|
NM_001386393.1(PANK2):c.87T>G (p.Ala29=)
|
|
|
NM_001386393.1(PANK2):c.882T>G (p.Asn294Lys)
|
rs758080048
|
|
NM_001386393.1(PANK2):c.883T>G (p.Tyr295Asp)
|
rs1288629241
|
|
NM_001386393.1(PANK2):c.885C>G (p.Tyr295Ter)
|
|
|
NM_001386393.1(PANK2):c.887A>T (p.Lys296Ile)
|
|
|
NM_001386393.1(PANK2):c.891G>T (p.Arg297=)
|
|
|
NM_001386393.1(PANK2):c.8G>T (p.Gly3Val)
|
rs1268207892
|
|
NM_001386393.1(PANK2):c.905+10A>G
|
|
|
NM_001386393.1(PANK2):c.905+10A>T
|
|
|
NM_001386393.1(PANK2):c.905+18C>T
|
rs2146867647
|
|
NM_001386393.1(PANK2):c.905+1G>T
|
rs1135401789
|
|
NM_001386393.1(PANK2):c.906-12T>A
|
|
|
NM_001386393.1(PANK2):c.906-12T>G
|
|
|
NM_001386393.1(PANK2):c.906-13T>G
|
|
|
NM_001386393.1(PANK2):c.906-18_906-15del
|
|
|
NM_001386393.1(PANK2):c.906-19T>A
|
|
|
NM_001386393.1(PANK2):c.906-21_906-19del
|
|
|
NM_001386393.1(PANK2):c.906-2A>C
|
rs1261714833
|
|
NM_001386393.1(PANK2):c.906-8A>C
|
|
|
NM_001386393.1(PANK2):c.906-99_929del
|
rs2146872050
|
|
NM_001386393.1(PANK2):c.90C>A (p.Ser30=)
|
|
|
NM_001386393.1(PANK2):c.920_921dup (p.Phe308fs)
|
rs1555788619
|
|
NM_001386393.1(PANK2):c.923T>G (p.Phe308Cys)
|
rs2146872412
|
|
NM_001386393.1(PANK2):c.927del (p.Phe309fs)
|
rs1568574931
|
|
NM_001386393.1(PANK2):c.932T>G (p.Leu311Arg)
|
rs2146872437
|
|
NM_001386393.1(PANK2):c.93C>T (p.Ala31=)
|
|
|
NM_001386393.1(PANK2):c.940CTT[1] (p.Leu315del)
|
rs1064794317
|
|
NM_001386393.1(PANK2):c.944T>C (p.Leu315Pro)
|
rs2146872522
|
|
NM_001386393.1(PANK2):c.946A>G (p.Thr316Ala)
|
|
|
NM_001386393.1(PANK2):c.949_961del (p.Gly317fs)
|
|
|
NM_001386393.1(PANK2):c.951C>G (p.Gly317=)
|
|
|
NM_001386393.1(PANK2):c.951C>T (p.Gly317=)
|
|
|
NM_001386393.1(PANK2):c.96C>T (p.Thr32=)
|
|
|
NM_001386393.1(PANK2):c.971C>A (p.Ala324Asp)
|
rs1031848408
|
|
NM_001386393.1(PANK2):c.978A>G (p.Glu326=)
|
rs1427408420
|
|
NM_001386393.1(PANK2):c.980T>C (p.Met327Thr)
|
rs28939088
|
|
NM_001386393.1(PANK2):c.987T>C (p.Ser329=)
|
|
|
NM_001386393.1(PANK2):c.989G>A (p.Arg330His)
|
|
|
NM_001386393.1(PANK2):c.99C>T (p.Ser33=)
|
|
|
NM_001386393.1(PANK2):c.9C>T (p.Gly3=)
|
|
|
NM_001388492.1(HTT):c.54GCA[13] (p.Gln33_Gln38del)
|
rs1712396191
|
|
NM_001388492.1(HTT):c.54GCA[22] (p.Gln36_Gln38dup)
|
rs71180116
|
|
NM_001388492.1(HTT):c.54GCA[40] (p.Gln18_Gln38dup)
|
rs71180116
|
|
NM_001388492.1(HTT):c.8903G>A (p.Gly2968Asp)
|
rs1721646894
|
|
NM_001388492.1(HTT):c.99_100del (p.Gln34fs)
|
|
|
NM_001940.4(ATN1):c.1464GCA[14] (p.Gln502del)
|
rs60216939
|
|
NM_001940.4(ATN1):c.1464GCA[16] (p.Gln502dup)
|
rs60216939
|
|
NM_001940.4(ATN1):c.1604C>A (p.Ser535Tyr)
|
|
|
NM_001940.4(ATN1):c.3182TGCACC[3] (p.1061LH[3])
|
rs2138219961
|
|
NM_002103.5(GYS1):c.*1113_*1116del
|
rs148396922
|
|
NM_002103.5(GYS1):c.1615G>A (p.Glu539Lys)
|
rs561646250
|
|
NM_002103.5(GYS1):c.1749C>A (p.Ile583=)
|
rs146698792
|
|
NM_002111.8(HTT):c.52CAG[27_35] (p.Gln18_Gln38delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)
|
|
|
NM_002111.8(HTT):c.52CAG[36_39]
|
|
|
NM_002111.8(HTT):c.52CAG[?_25]
|
|
|
NM_002973.4(ATXN2):c.16CAG[22_31] (p.6Gln[22_31])
|
rs1885090126
|
|
NM_002973.4(ATXN2):c.16CAG[27_33] (p.6Gln[27_33])
|
rs1885090126
|
|
NM_002973.4(ATXN2):c.16CAG[33_?] (p.6Gln[33_?])
|
rs1885090126
|
|
NM_003194.5(TBP):c.216_218del (p.Gln95del)
|
rs71815788
|
|
NM_003194.5(TBP):c.225GCA[25] (p.Gln95_Ala96insGlnGlnGlnGlnGlnGln)
|
|
|
NM_004993.5(ATXN3):c.886_888CAG(12_44) (p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)
|
|
|
NM_004993.5(ATXN3):c.886_888CAG(60_86) (p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)
|
|
|
NM_004993.6(ATXN3):c.892CAG[12] (p.Gln302_Gln305dup)
|
rs193922928
|
|
NM_004993.6(ATXN3):c.892CAG[8_36]
|
rs193922928
|
|
NM_006019.4(TCIRG1):c.713+1G>T
|
rs774308815
|
|
NM_020655.4(JPH3):c.955C>T (p.Arg319Trp)
|
rs148131421
|
|
NM_021083.4(XK):c.100C>G (p.Arg34Gly)
|
|
|
NM_021083.4(XK):c.1013del (p.Phe338fs)
|
rs1602159120
|
|
NM_021083.4(XK):c.1220C>T (p.Pro407Leu)
|
|
|
NM_021083.4(XK):c.200C>T (p.Pro67Leu)
|
|
|
NM_021083.4(XK):c.335A>G (p.Asn112Ser)
|
|
|
NM_021083.4(XK):c.404C>T (p.Ala135Val)
|
|
|
NM_021083.4(XK):c.508+1G>A
|
rs1602145991
|
|
NM_021083.4(XK):c.509-1G>A
|
rs1602158863
|
|
NM_021083.4(XK):c.664C>G (p.Arg222Gly)
|
rs2146834483
|
|
NM_021083.4(XK):c.664C>T (p.Arg222Ter)
|
rs2146834483
|
|
NM_021083.4(XK):c.794A>G (p.Glu265Gly)
|
|
|
NM_021083.4(XK):c.85C>G (p.Arg29Gly)
|
|
|
NM_021083.4(XK):c.880T>C (p.Cys294Arg)
|
rs28933690
|
|
NM_021083.4(XK):c.895C>T (p.Gln299Ter)
|
rs104894954
|
|
NM_021083.4(XK):c.938_951del (p.Asn313fs)
|
rs2146834690
|
|
NM_021083.4(XK):c.941G>A (p.Trp314Ter)
|
rs104894953
|
|
NM_021083.4(XK):c.979G>A (p.Glu327Lys)
|
rs2146834720
|
|
NM_033305.2(VPS13A):c.-183G>A
|
rs12349389
|
|
NM_033305.2(VPS13A):c.-183G>C
|
rs12349389
|
|
NM_033305.2(VPS13A):c.-232G>C
|
rs545092496
|
|
NM_033305.2(VPS13A):c.-264G>C
|
rs542679691
|
|
NM_033305.3(VPS13A):c.*106T>G
|
rs1835160786
|
|
NM_033305.3(VPS13A):c.*1133A>C
|
rs182044001
|
|
NM_033305.3(VPS13A):c.*1248_*1251dup
|
rs1057515668
|
|
NM_033305.3(VPS13A):c.*133CAAA[1]
|
rs914078686
|
|
NM_033305.3(VPS13A):c.*274AGA[1]
|
rs147672353
|
|
NM_033305.3(VPS13A):c.*409A>G
|
rs975807327
|
|
NM_033305.3(VPS13A):c.*694C>A
|
rs115104076
|
|
NM_033305.3(VPS13A):c.*774_*776del
|
rs549219168
|
|
NM_033305.3(VPS13A):c.*81A>G
|
rs1057515661
|
|
NM_033305.3(VPS13A):c.*990T>A
|
rs1203318328
|
|
NM_033305.3(VPS13A):c.-16A>T
|
rs372360076
|
|
NM_033305.3(VPS13A):c.1146T>A (p.Leu382=)
|
rs556865512
|
|
NM_033305.3(VPS13A):c.1155T>C (p.Ser385=)
|
rs774931205
|
|
NM_033305.3(VPS13A):c.1303T>C (p.Trp435Arg)
|
rs550188251
|
|
NM_033305.3(VPS13A):c.1305G>A (p.Trp435Ter)
|
rs761923202
|
|
NM_033305.3(VPS13A):c.144+1G>C
|
|
|
NM_033305.3(VPS13A):c.14C>A (p.Ser5Ter)
|
rs2131030007
|
|
NM_033305.3(VPS13A):c.1581A>G (p.Gly527=)
|
rs757215593
|
|
NM_033305.3(VPS13A):c.1596-10_1596-8del
|
rs748907586
|
|
NM_033305.3(VPS13A):c.159A>G (p.Val53=)
|
rs1057515645
|
|
NM_033305.3(VPS13A):c.1616C>G (p.Ser539Ter)
|
|
|
NM_033305.3(VPS13A):c.1744T>C (p.Cys582Arg)
|
rs1057515651
|
|
NM_033305.3(VPS13A):c.1792G>C (p.Val598Leu)
|
rs759600403
|
|
NM_033305.3(VPS13A):c.1900+9C>T
|
rs773690202
|
|
NM_033305.3(VPS13A):c.1A>T (p.Met1Leu)
|
rs2131029946
|
|
NM_033305.3(VPS13A):c.2037+191T>C
|
rs10115162
|
|
NM_033305.3(VPS13A):c.2136A>C (p.Gln712His)
|
rs1389344705
|
|
NM_033305.3(VPS13A):c.2175T>G (p.Asp725Glu)
|
rs1057515652
|
|
NM_033305.3(VPS13A):c.2252_2253insGA (p.Lys752fs)
|
rs1825188183
|
|
NM_033305.3(VPS13A):c.2326C>T (p.Arg776Ter)
|
rs1417246536
|
|
NM_033305.3(VPS13A):c.2475A>G (p.Ile825Met)
|
rs1826457641
|
|
NM_033305.3(VPS13A):c.2500del (p.Val834fs)
|
rs2131325474
|
|
NM_033305.3(VPS13A):c.2512+1G>A
|
|
|
NM_033305.3(VPS13A):c.2513-2A>T
|
rs1037030970
|
|
NM_033305.3(VPS13A):c.269T>A (p.Ile90Lys)
|
rs119477052
|
|
NM_033305.3(VPS13A):c.2723T>A (p.Ile908Asn)
|
rs1826653395
|
|
NM_033305.3(VPS13A):c.2783C>A (p.Ala928Asp)
|
rs757651034
|
|
NM_033305.3(VPS13A):c.2783C>T (p.Ala928Val)
|
rs757651034
|
|
NM_033305.3(VPS13A):c.283+20del
|
rs199782752
|
|
NM_033305.3(VPS13A):c.2841A>G (p.Pro947=)
|
rs1826936558
|
|
NM_033305.3(VPS13A):c.2869A>G (p.Thr957Ala)
|
rs1248091059
|
|
NM_033305.3(VPS13A):c.2951T>A (p.Leu984Ter)
|
|
|
NM_033305.3(VPS13A):c.2953C>T (p.Gln985Ter)
|
rs1827048548
|
|
NM_033305.3(VPS13A):c.295_297del (p.Asp99del)
|
rs759258746
|
|
NM_033305.3(VPS13A):c.2982G>C (p.Leu994Phe)
|
rs1169530629
|
|
NM_033305.3(VPS13A):c.3114del (p.Lys1038fs)
|
|
|
NM_033305.3(VPS13A):c.3118+66A>C
|
rs11145367
|
|
NM_033305.3(VPS13A):c.3340-5_3340-3del
|
rs746510956
|
|
NM_033305.3(VPS13A):c.337C>T (p.Gln113Ter)
|
rs780664594
|
|
NM_033305.3(VPS13A):c.3499_3503del (p.Ser1167fs)
|
rs1827795601
|
|
NM_033305.3(VPS13A):c.3508-44G>T
|
rs1317304
|
|
NM_033305.3(VPS13A):c.3637A>G (p.Ile1213Val)
|
rs1172751806
|
|
NM_033305.3(VPS13A):c.3658A>C (p.Ile1220Leu)
|
rs1232607771
|
|
NM_033305.3(VPS13A):c.3714A>C (p.Thr1238=)
|
rs769379977
|
|
NM_033305.3(VPS13A):c.3743_3746dup (p.Ser1249fs)
|
|
|
NM_033305.3(VPS13A):c.385+6_385+15del
|
rs72275336
|
|
NM_033305.3(VPS13A):c.3961-6del
|
rs3216012
|
|
NM_033305.3(VPS13A):c.3961-6dup
|
rs3216012
|
|
NM_033305.3(VPS13A):c.4185C>T (p.Asn1395=)
|
rs773982653
|
|
NM_033305.3(VPS13A):c.4190G>A (p.Ser1397Asn)
|
rs1392223813
|
|
NM_033305.3(VPS13A):c.4223A>G (p.Tyr1408Cys)
|
rs1829245513
|
|
NM_033305.3(VPS13A):c.4246dup (p.Ser1416fs)
|
rs2131427489
|
|
NM_033305.3(VPS13A):c.4356del (p.Ser1452_Leu1453insTer)
|
|
|
NM_033305.3(VPS13A):c.4386A>G (p.Arg1462=)
|
rs1829282039
|
|
NM_033305.3(VPS13A):c.4411C>T (p.Arg1471Ter)
|
rs1193250444
|
|
NM_033305.3(VPS13A):c.4715del (p.Asn1572fs)
|
rs2131432786
|
|
NM_033305.3(VPS13A):c.4765G>A (p.Gly1589Ser)
|
rs1829384544
|
|
NM_033305.3(VPS13A):c.4918C>T (p.Gln1640Ter)
|
rs1829478568
|
|
NM_033305.3(VPS13A):c.496-9C>T
|
rs370541609
|
|
NM_033305.3(VPS13A):c.5003T>G (p.Leu1668Arg)
|
rs372255312
|
|
NM_033305.3(VPS13A):c.5041T>G (p.Ser1681Ala)
|
rs1181531896
|
|
NM_033305.3(VPS13A):c.505C>T (p.Arg169Trp)
|
rs139380985
|
|
NM_033305.3(VPS13A):c.5117_5122del (p.Thr1706_Glu1707del)
|
rs753852395
|
|
NM_033305.3(VPS13A):c.5156G>T (p.Gly1719Val)
|
rs1829532129
|
|
NM_033305.3(VPS13A):c.5157C>T (p.Gly1719=)
|
rs1829532281
|
|
NM_033305.3(VPS13A):c.5248C>T (p.Arg1750Cys)
|
rs149067717
|
|
NM_033305.3(VPS13A):c.5481A>G (p.Pro1827=)
|
rs1829726014
|
|
NM_033305.3(VPS13A):c.5532A>C (p.Thr1844=)
|
rs370144264
|
|
NM_033305.3(VPS13A):c.555+1G>A
|
rs1590003601
|
|
NM_033305.3(VPS13A):c.5574+1G>A
|
rs1829731758
|
|
NM_033305.3(VPS13A):c.5599T>A (p.Ser1867Thr)
|
rs2131449438
|
|
NM_033305.3(VPS13A):c.5687T>C (p.Phe1896Ser)
|
rs1339880855
|
|
NM_033305.3(VPS13A):c.5855A>G (p.Asp1952Gly)
|
rs1336467149
|
|
NM_033305.3(VPS13A):c.5899del (p.Arg1967fs)
|
|
|
NM_033305.3(VPS13A):c.5909_5910del (p.Glu1970fs)
|
rs1251833565
|
|
NM_033305.3(VPS13A):c.6018G>A (p.Leu2006=)
|
rs201300715
|
|
NM_033305.3(VPS13A):c.6039C>A (p.Thr2013=)
|
rs528628591
|
|
NM_033305.3(VPS13A):c.6059del (p.Pro2020fs)
|
rs781242821
|
|
NM_033305.3(VPS13A):c.616-47A>T
|
rs2131153308
|
|
NM_033305.3(VPS13A):c.6200G>A (p.Cys2067Tyr)
|
rs770789453
|
|
NM_033305.3(VPS13A):c.6283del (p.Ser2095fs)
|
rs1587612257
|
|
NM_033305.3(VPS13A):c.6297G>C (p.Trp2099Cys)
|
|
|
NM_033305.3(VPS13A):c.6367_6374del (p.Tyr2123fs)
|
rs1485186943
|
|
NM_033305.3(VPS13A):c.6379-1G>C
|
|
|
NM_033305.3(VPS13A):c.6485A>T (p.Asn2162Ile)
|
rs769503145
|
|
NM_033305.3(VPS13A):c.649A>G (p.Asn217Asp)
|
rs1826073644
|
|
NM_033305.3(VPS13A):c.6591T>C (p.Ala2197=)
|
rs1057515657
|
|
NM_033305.3(VPS13A):c.667T>G (p.Phe223Val)
|
rs1287394997
|
|
NM_033305.3(VPS13A):c.672_676del (p.Tyr224_Ser226delinsTer)
|
rs2131153683
|
|
NM_033305.3(VPS13A):c.6818C>A (p.Ser2273Ter)
|
rs1830740171
|
|
NM_033305.3(VPS13A):c.6880-6dup
|
rs140476942
|
|
NM_033305.3(VPS13A):c.7027-1G>A
|
|
|
NM_033305.3(VPS13A):c.7044T>A (p.Pro2348=)
|
rs143259810
|
|
NM_033305.3(VPS13A):c.7155+14dup
|
rs747383490
|
|
NM_033305.3(VPS13A):c.7214T>G (p.Leu2405Ter)
|
|
|
NM_033305.3(VPS13A):c.7231G>T (p.Ala2411Ser)
|
rs760875004
|
|
NM_033305.3(VPS13A):c.7237A>G (p.Thr2413Ala)
|
rs1057515659
|
|
NM_033305.3(VPS13A):c.7419+1G>A
|
rs763654348
|
|
NM_033305.3(VPS13A):c.7420-4C>T
|
rs764829121
|
|
NM_033305.3(VPS13A):c.755-1G>A
|
|
|
NM_033305.3(VPS13A):c.7736_7739del (p.Arg2579fs)
|
rs748828128
|
|
NM_033305.3(VPS13A):c.7953G>C (p.Gln2651His)
|
rs774310423
|
|
NM_033305.3(VPS13A):c.8035G>A (p.Ala2679Thr)
|
rs1587653832
|
|
NM_033305.3(VPS13A):c.811G>T (p.Asp271Tyr)
|
|
|
NM_033305.3(VPS13A):c.8148del (p.Phe2719fs)
|
|
|
NM_033305.3(VPS13A):c.8211+9del
|
rs752070804
|
|
NM_033305.3(VPS13A):c.8375C>G (p.Ser2792Ter)
|
rs756865623
|
|
NM_033305.3(VPS13A):c.844_848del (p.Glu282fs)
|
|
|
NM_033305.3(VPS13A):c.8472-11G>T
|
rs1281741862
|
|
NM_033305.3(VPS13A):c.8668-1G>A
|
rs2131587158
|
|
NM_033305.3(VPS13A):c.8737G>A (p.Ala2913Thr)
|
|
|
NM_033305.3(VPS13A):c.8744-2A>G
|
|
|
NM_033305.3(VPS13A):c.8982C>T (p.Phe2994=)
|
rs998711723
|
|
NM_033305.3(VPS13A):c.904C>T (p.Leu302Phe)
|
rs541051874
|
|
NM_033305.3(VPS13A):c.9067_9069delinsTGG (p.Gly3023Trp)
|
|
|
NM_033305.3(VPS13A):c.9189+2495C>T
|
|
|
NM_033305.3(VPS13A):c.9189+2545TGA[6]
|
rs113052866
|
|
NM_033305.3(VPS13A):c.9189+2545TGA[9]
|
rs113052866
|
|
NM_033305.3(VPS13A):c.9193A>G (p.Met3065Val)
|
rs1057515660
|
|
NM_033305.3(VPS13A):c.9243_9246del (p.Asn3082fs)
|
|
|
NM_033305.3(VPS13A):c.9263T>G (p.Met3088Arg)
|
|
|
NM_033305.3(VPS13A):c.9287_9290dup (p.Thr3098fs)
|
rs1834577610
|
|
NM_033305.3(VPS13A):c.9326G>A (p.Trp3109Ter)
|
rs773932109
|
|
NM_033305.3(VPS13A):c.9431_9432del (p.Glu3144fs)
|
rs1085307750
|
|
NM_033305.3(VPS13A):c.989+28del
|
rs751974264
|
|
NM_153638.4(PANK2):c.105C>T (p.Pro35=)
|
|
|
NM_153638.4(PANK2):c.108C>T (p.Ser36=)
|
|
|
NM_153638.4(PANK2):c.113C>A (p.Thr38Asn)
|
rs1426406978
|
|
NM_153638.4(PANK2):c.114C>A (p.Thr38=)
|
|
|
NM_153638.4(PANK2):c.117C>A (p.Thr39=)
|
|
|
NM_153638.4(PANK2):c.118C>T (p.Leu40Phe)
|
|
|
NM_153638.4(PANK2):c.123C>T (p.Ser41=)
|
|
|
NM_153638.4(PANK2):c.126G>T (p.Pro42=)
|
|
|
NM_153638.4(PANK2):c.126del (p.Arg44fs)
|
rs1600474748
|
|
NM_153638.4(PANK2):c.129C>T (p.Pro43=)
|
|
|
NM_153638.4(PANK2):c.12C>G (p.Leu4=)
|
|
|
NM_153638.4(PANK2):c.141C>T (p.Ser47=)
|
|
|
NM_153638.4(PANK2):c.148T>C (p.Leu50=)
|
|
|
NM_153638.4(PANK2):c.14G>A (p.Gly5Glu)
|
|
|
NM_153638.4(PANK2):c.153C>T (p.Asp51=)
|
|
|
NM_153638.4(PANK2):c.159C>T (p.Gly53=)
|
rs1485088384
|
|
NM_153638.4(PANK2):c.160A>G (p.Thr54Ala)
|
rs2146803538
|
|
NM_153638.4(PANK2):c.172C>T (p.Pro58Ser)
|
|
|
NM_153638.4(PANK2):c.189G>A (p.Pro63=)
|
|
|
NM_153638.4(PANK2):c.18C>T (p.Pro6=)
|
|
|
NM_153638.4(PANK2):c.200A>C (p.Glu67Ala)
|
rs2146803693
|
|
NM_153638.4(PANK2):c.209G>C (p.Gly70Ala)
|
|
|
NM_153638.4(PANK2):c.213G>C (p.Pro71=)
|
|
|
NM_153638.4(PANK2):c.219A>G (p.Pro73=)
|
|
|
NM_153638.4(PANK2):c.222C>G (p.Ala74=)
|
|
|
NM_153638.4(PANK2):c.243G>T (p.Ala81=)
|
|
|
NM_153638.4(PANK2):c.24C>T (p.His8=)
|
|
|
NM_153638.4(PANK2):c.252C>T (p.Arg84=)
|
|
|
NM_153638.4(PANK2):c.258A>C (p.Gly86=)
|
|
|
NM_153638.4(PANK2):c.264C>T (p.Gly88=)
|
|
|
NM_153638.4(PANK2):c.272C>T (p.Pro91Leu)
|
rs757651957
|
|
NM_153638.4(PANK2):c.273G>A (p.Pro91=)
|
|
|
NM_153638.4(PANK2):c.273G>C (p.Pro91=)
|
|
|
NM_153638.4(PANK2):c.280C>A (p.Arg94Ser)
|
|
|
NM_153638.4(PANK2):c.283C>A (p.Leu95Ile)
|
rs558404718
|
|
NM_153638.4(PANK2):c.283C>T (p.Leu95Phe)
|
rs558404718
|
|
NM_153638.4(PANK2):c.30C>T (p.Arg10=)
|
|
|
NM_153638.4(PANK2):c.31G>A (p.Val11Ile)
|
rs886044063
|
|
NM_153638.4(PANK2):c.38G>A (p.Trp13Ter)
|
|
|
NM_153638.4(PANK2):c.42G>A (p.Ala14=)
|
|
|
NM_153638.4(PANK2):c.42_67del (p.Ala15fs)
|
rs760822872
|
|
NM_153638.4(PANK2):c.45G>A (p.Ala15=)
|
|
|
NM_153638.4(PANK2):c.54A>G (p.Ser18=)
|
rs886056650
|
|
NM_153638.4(PANK2):c.55C>T (p.Leu19Phe)
|
rs1568549056
|
|
NM_153638.4(PANK2):c.58T>C (p.Ser20Pro)
|
|
|
NM_153638.4(PANK2):c.66G>A (p.Gly22=)
|
|
|
NM_153638.4(PANK2):c.66G>C (p.Gly22=)
|
|
|
NM_153638.4(PANK2):c.68_69insTG (p.His24fs)
|
|
|
NM_153638.4(PANK2):c.69A>G (p.Leu23=)
|
|
|
NM_153638.4(PANK2):c.7A>C (p.Arg3=)
|
|
|
NM_153638.4(PANK2):c.81C>G (p.Leu27=)
|
|
|
NM_153638.4(PANK2):c.84C>T (p.Phe28=)
|
|
|
NM_153638.4(PANK2):c.89G>C (p.Arg30Pro)
|
|
|
NM_153638.4(PANK2):c.99G>A (p.Arg33=)
|
|
|
NM_153638.4(PANK2):c.9G>A (p.Arg3=)
|
|
|
NM_153638.4(PANK2):c.9G>T (p.Arg3Ser)
|
rs1211425299
|
|
Single allele
|
|
|
XK, 1-BP DEL
|
|
|