NM_033305.3(VPS13A):c.2512+116A>G
|
rs2050831
|
0.84346
|
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_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_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_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.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_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_033305.3(VPS13A):c.7806+6A>G
|
rs74810255
|
0.01231
|
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_001386393.1(PANK2):c.*218A>G
|
rs71647860
|
0.00876
|
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_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_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_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_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.101-7T>C
|
rs190684534
|
0.00338
|
NM_033305.3(VPS13A):c.2748A>G (p.Glu916=)
|
rs73466090
|
0.00324
|
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_033305.3(VPS13A):c.4007A>T (p.His1336Leu)
|
rs142058362
|
0.00198
|
NM_000146.4(FTL):c.522C>T (p.His174=)
|
rs73046709
|
0.00184
|
NM_001386393.1(PANK2):c.960T>C (p.Thr320=)
|
rs149583615
|
0.00180
|
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_001386393.1(PANK2):c.489G>A (p.Leu163=)
|
rs71647837
|
0.00164
|
NM_033305.3(VPS13A):c.4927G>A (p.Asp1643Asn)
|
rs74622901
|
0.00134
|
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_033305.3(VPS13A):c.6096-7C>T
|
rs190144287
|
0.00061
|
NM_001386393.1(PANK2):c.298+15G>C
|
rs566953264
|
0.00057
|
NM_000146.4(FTL):c.*24C>T
|
rs368083362
|
0.00037
|
NM_000146.4(FTL):c.-121C>T
|
rs11553228
|
0.00031
|
NM_033305.3(VPS13A):c.8907+10T>G
|
rs373895244
|
0.00031
|
NM_033305.3(VPS13A):c.2124A>G (p.Ser708=)
|
rs199682779
|
0.00029
|
NM_033305.3(VPS13A):c.6905G>A (p.Ser2302Asn)
|
rs188070090
|
0.00026
|
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_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.9037A>G (p.Ile3013Val)
|
rs185663133
|
0.00011
|
NM_000146.4(FTL):c.250-6A>G
|
rs370216913
|
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_001386393.1(PANK2):c.132C>T (p.Asp44=)
|
rs781106176
|
0.00006
|
NM_001386393.1(PANK2):c.624G>A (p.Ala208=)
|
rs78631398
|
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_033305.3(VPS13A):c.2964+5G>A
|
rs139516538
|
0.00005
|
NM_033305.3(VPS13A):c.963G>A (p.Val321=)
|
rs184828562
|
0.00005
|
NM_033305.3(VPS13A):c.1212G>A (p.Thr404=)
|
rs367698917
|
0.00004
|
NM_000146.4(FTL):c.73C>T (p.Leu25=)
|
rs201971200
|
0.00003
|
NM_033305.3(VPS13A):c.8350T>G (p.Ser2784Ala)
|
rs368916151
|
0.00002
|
NM_033305.3(VPS13A):c.2296A>G (p.Ile766Val)
|
rs576941423
|
0.00001
|
NM_033305.3(VPS13A):c.3804A>C (p.Arg1268=)
|
rs527418139
|
0.00001
|
NM_033305.3(VPS13A):c.4602T>C (p.Ser1534=)
|
rs752134753
|
0.00001
|
NC_000004.11:g.3076606GCA[(?_26)]
|
|
|
NM_000146.4(FTL):c.103-14A>G
|
rs769222073
|
|
NM_000146.4(FTL):c.234C>T (p.Leu78=)
|
rs559383814
|
|
NM_001007026.1(ATN1):c.1462CAG[(6_35)] (p.Gln488[(6-35)])
|
|
|
NM_001007026.1(ATN1):c.1462CAG[17] (p.Gln488[17])
|
rs60216939
|
|
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_001372574.1(ATXN2):c.289-11dup
|
rs144235483
|
|
NM_001372574.1(ATXN2):c.59AGC[8] (p.Gln28del)
|
rs10560189
|
|
NM_001386393.1(PANK2):c.1083-13del
|
|
|
NM_001386393.1(PANK2):c.1083-14_1083-13insCCCCCT
|
rs1555789541
|
|
NM_001386393.1(PANK2):c.1207-12dup
|
rs1252234662
|
|
NM_001386393.1(PANK2):c.1332+16C>A
|
rs142997448
|
|
NM_001386393.1(PANK2):c.255G>T (p.Ser85=)
|
rs375741383
|
|
NM_001386393.1(PANK2):c.299-14del
|
|
|
NM_001386393.1(PANK2):c.47G>C (p.Gly16Ala)
|
rs3737084
|
|
NM_001386393.1(PANK2):c.652-18A>C
|
rs200451247
|
|
NM_002111.8(HTT):c.52CAG[?_25]
|
|
|
NM_003194.5(TBP):c.216_218del (p.Gln95del)
|
rs71815788
|
|
NM_004993.5(ATXN3):c.886_888CAG(12_44) (p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)
|
|
|
NM_004993.6(ATXN3):c.892CAG[12] (p.Gln302_Gln305dup)
|
rs193922928
|
|
NM_033305.2(VPS13A):c.-183G>C
|
rs12349389
|
|
NM_033305.3(VPS13A):c.*694C>A
|
rs115104076
|
|
NM_033305.3(VPS13A):c.2037+191T>C
|
rs10115162
|
|
NM_033305.3(VPS13A):c.3118+66A>C
|
rs11145367
|
|
NM_033305.3(VPS13A):c.3508-44G>T
|
rs1317304
|
|
NM_033305.3(VPS13A):c.385+6_385+15del
|
rs72275336
|
|
NM_033305.3(VPS13A):c.3961-6dup
|
rs3216012
|
|
NM_033305.3(VPS13A):c.6039C>A (p.Thr2013=)
|
rs528628591
|
|
NM_033305.3(VPS13A):c.7155+14dup
|
rs747383490
|
|
NM_033305.3(VPS13A):c.8211+9del
|
rs752070804
|
|