NM_015046.7(SETX):c.3576T>G (p.Asp1192Glu)
|
rs1185193
|
0.76694
|
NM_015046.7(SETX):c.1077T>C (p.Tyr359=)
|
rs9411449
|
0.75774
|
NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg)
|
rs1183768
|
0.68476
|
NM_015046.7(SETX):c.4156A>G (p.Ile1386Val)
|
rs543573
|
0.68049
|
NM_001195248.2(APTX):c.484-13G>T
|
rs10123944
|
0.62521
|
NM_015046.7(SETX):c.7759A>G (p.Ile2587Val)
|
rs1056899
|
0.44536
|
NM_015046.7(SETX):c.5563A>G (p.Thr1855Ala)
|
rs2296871
|
0.31596
|
NM_015046.7(SETX):c.5811T>C (p.Asp1937=)
|
rs2296869
|
0.31585
|
NM_018319.4(TDP1):c.-230-14C>A
|
rs28365055
|
0.25524
|
NM_018319.4(TDP1):c.291A>G (p.Gln97=)
|
rs3825663
|
0.25304
|
NM_015046.7(SETX):c.5781+12dup
|
rs3831154
|
0.24271
|
NM_018319.4(TDP1):c.*77C>T
|
rs9488
|
0.20063
|
NM_015046.7(SETX):c.*562C>A
|
rs11787894
|
0.16282
|
NM_015046.7(SETX):c.*626C>T
|
rs11795382
|
0.16247
|
NM_015046.7(SETX):c.1979C>G (p.Ala660Gly)
|
rs882709
|
0.12168
|
NM_018319.4(TDP1):c.400G>A (p.Ala134Thr)
|
rs28365054
|
0.10566
|
NM_015046.7(SETX):c.*2262A>G
|
rs997784
|
0.09345
|
NM_015046.7(SETX):c.6935+8T>C
|
rs17148873
|
0.09319
|
NM_015046.7(SETX):c.7834A>G (p.Ser2612Gly)
|
rs3739927
|
0.08329
|
NM_015046.7(SETX):c.3147C>T (p.His1049=)
|
rs3739921
|
0.07515
|
NM_015046.7(SETX):c.*1365G>T
|
rs7875801
|
0.06684
|
NM_018319.4(TDP1):c.-21C>T
|
rs34348197
|
0.06559
|
NM_001195248.2(APTX):c.484-12_484-11insG
|
rs377129152
|
0.06469
|
NM_018319.4(TDP1):c.*1448G>A
|
rs34004710
|
0.05962
|
NM_018319.4(TDP1):c.*1452C>T
|
rs34923595
|
0.05957
|
NM_018319.4(TDP1):c.*1460C>G
|
rs35944390
|
0.05950
|
NM_018319.4(TDP1):c.1077A>G (p.Pro359=)
|
rs17126522
|
0.05945
|
NM_018319.4(TDP1):c.-224A>G
|
rs35439694
|
0.05316
|
NM_015046.7(SETX):c.3455T>G (p.Phe1152Cys)
|
rs3739922
|
0.04708
|
NM_018319.4(TDP1):c.-177C>T
|
rs35132667
|
0.04596
|
NM_015046.7(SETX):c.*717T>C
|
rs17148857
|
0.04316
|
NM_015046.7(SETX):c.*1700G>T
|
rs75682594
|
0.03993
|
NM_018319.4(TDP1):c.1107T>C (p.Asn369=)
|
rs10151377
|
0.03424
|
NM_018319.4(TDP1):c.*393T>C
|
rs7150480
|
0.03142
|
NM_015046.7(SETX):c.*561A>C
|
rs73661150
|
0.02138
|
NM_018319.4(TDP1):c.*539G>A
|
rs35090050
|
0.02032
|
NM_015046.7(SETX):c.6106+14G>A
|
rs73661157
|
0.01840
|
NM_018319.4(TDP1):c.-230-4G>T
|
rs28365053
|
0.01666
|
NM_015046.7(SETX):c.*1052T>A
|
rs12349210
|
0.01647
|
NM_015046.7(SETX):c.*1288T>C
|
rs72765812
|
0.01645
|
NM_015046.7(SETX):c.3182C>T (p.Pro1061Leu)
|
rs12352982
|
0.01591
|
NM_015046.7(SETX):c.*849G>T
|
rs74975459
|
0.01559
|
NM_015046.7(SETX):c.*1224G>C
|
rs10491906
|
0.01458
|
NM_015046.7(SETX):c.2975A>G (p.Lys992Arg)
|
rs61742937
|
0.01445
|
NM_015046.7(SETX):c.6507G>A (p.Gly2169=)
|
rs34073320
|
0.01300
|
NM_015046.7(SETX):c.*351G>T
|
rs117409290
|
0.01236
|
NM_015046.7(SETX):c.*548A>T
|
rs139883935
|
0.01078
|
NM_018319.4(TDP1):c.*799A>G
|
rs35437984
|
0.01042
|
NM_015046.7(SETX):c.-124C>T
|
rs114850064
|
0.00959
|
NM_018319.4(TDP1):c.911G>A (p.Arg304Gln)
|
rs34452707
|
0.00640
|
NM_018319.4(TDP1):c.1098A>G (p.Gln366=)
|
rs34563565
|
0.00639
|
NM_018319.4(TDP1):c.302C>T (p.Pro101Leu)
|
rs35455108
|
0.00620
|
NM_015046.7(SETX):c.59G>A (p.Arg20His)
|
rs79740039
|
0.00602
|
NM_001195248.2(APTX):c.*806G>A
|
rs113556331
|
0.00570
|
NM_015046.7(SETX):c.*319C>T
|
rs1056912
|
0.00570
|
NM_018319.4(TDP1):c.*1105A>G
|
rs34815305
|
0.00542
|
NM_015046.7(SETX):c.-107C>T
|
rs190832998
|
0.00516
|
NM_015046.7(SETX):c.4755T>G (p.Pro1585=)
|
rs151237267
|
0.00484
|
NM_015046.7(SETX):c.2672T>C (p.Val891Ala)
|
rs148181729
|
0.00470
|
NM_015046.7(SETX):c.*475A>C
|
rs60760878
|
0.00452
|
NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr)
|
rs151117904
|
0.00431
|
NM_018319.4(TDP1):c.*598G>A
|
rs34083314
|
0.00430
|
NM_018319.4(TDP1):c.1317+11G>A
|
rs36009827
|
0.00423
|
NM_018319.4(TDP1):c.1705A>G (p.Thr569Ala)
|
rs35973343
|
0.00413
|
NM_015046.7(SETX):c.3663G>C (p.Lys1221Asn)
|
rs12344006
|
0.00412
|
NM_015046.7(SETX):c.7371T>C (p.His2457=)
|
rs113071480
|
0.00399
|
NM_015046.7(SETX):c.472T>G (p.Leu158Val)
|
rs145438764
|
0.00347
|
NM_018319.3(TDP1):c.-292G>T
|
rs577403021
|
0.00332
|
NM_018319.4(TDP1):c.*496G>A
|
rs34796911
|
0.00305
|
NM_015046.7(SETX):c.7724C>T (p.Pro2575Leu)
|
rs34000644
|
0.00304
|
NM_015046.7(SETX):c.2216G>A (p.Gly739Glu)
|
rs36024203
|
0.00293
|
NM_015046.7(SETX):c.*254C>T
|
rs11545230
|
0.00252
|
NM_015046.7(SETX):c.4660T>G (p.Cys1554Gly)
|
rs112089123
|
0.00250
|
NM_015046.7(SETX):c.*168C>T
|
rs115351494
|
0.00245
|
NM_018319.4(TDP1):c.*599G>C
|
rs184066284
|
0.00238
|
NM_015046.7(SETX):c.7114G>A (p.Asp2372Asn)
|
rs150673589
|
0.00178
|
NM_018319.4(TDP1):c.1165G>A (p.Ala389Thr)
|
rs138044459
|
0.00178
|
NM_015046.7(SETX):c.3310C>G (p.Gln1104Glu)
|
rs113831637
|
0.00173
|
NM_018319.4(TDP1):c.*1618T>C
|
rs35308003
|
0.00169
|
NM_015046.7(SETX):c.*2506T>C
|
rs73545065
|
0.00164
|
NM_015046.7(SETX):c.*905A>G
|
rs58327306
|
0.00164
|
NM_015046.7(SETX):c.*1800C>T
|
rs147200829
|
0.00144
|
NM_015046.7(SETX):c.-70T>C
|
rs72765839
|
0.00131
|
NM_015046.7(SETX):c.3809C>T (p.Pro1270Leu)
|
rs144334281
|
0.00122
|
NM_015046.7(SETX):c.3229G>A (p.Asp1077Asn)
|
rs145097270
|
0.00105
|
NM_015046.7(SETX):c.192A>G (p.Leu64=)
|
rs117326462
|
0.00078
|
NM_015046.7(SETX):c.5949+5G>A
|
rs374656811
|
0.00078
|
NM_015046.7(SETX):c.2479A>G (p.Lys827Glu)
|
rs150532677
|
0.00058
|
NM_001195248.2(APTX):c.134-12A>C
|
rs113391831
|
0.00057
|
NM_018319.4(TDP1):c.*1430G>C
|
rs34513682
|
0.00053
|
NM_015046.7(SETX):c.4197A>G (p.Thr1399=)
|
rs148078248
|
0.00052
|
NM_015046.7(SETX):c.5473A>G (p.Thr1825Ala)
|
rs151046729
|
0.00051
|
NM_015046.7(SETX):c.7914C>T (p.Phe2638=)
|
rs80296256
|
0.00051
|
NM_018319.4(TDP1):c.*945C>T
|
rs540904390
|
0.00051
|
NM_015046.7(SETX):c.*1803G>A
|
rs556145432
|
0.00046
|
NM_001195248.2(APTX):c.18G>T (p.Trp6Cys)
|
rs144076460
|
0.00042
|
NM_015046.7(SETX):c.*1454C>G
|
rs561712582
|
0.00041
|
NM_015046.7(SETX):c.3826C>G (p.Gln1276Glu)
|
rs148604312
|
0.00039
|
NM_015046.7(SETX):c.654G>C (p.Lys218Asn)
|
rs117861188
|
0.00039
|
NM_018319.4(TDP1):c.1747A>G (p.Ser583Gly)
|
rs201355368
|
0.00039
|
NM_015046.7(SETX):c.1693T>C (p.Phe565Leu)
|
rs143982186
|
0.00037
|
NM_015046.7(SETX):c.5283A>G (p.Gln1761=)
|
rs139063885
|
0.00036
|
NM_018319.4(TDP1):c.1366+10G>A
|
rs200295380
|
0.00036
|
NM_015046.7(SETX):c.4612C>T (p.Arg1538Trp)
|
rs147018359
|
0.00035
|
NM_018319.4(TDP1):c.*950C>T
|
rs577840358
|
0.00035
|
NM_015046.7(SETX):c.4433C>A (p.Ala1478Glu)
|
rs143661911
|
0.00034
|
NM_018319.4(TDP1):c.1343G>A (p.Arg448Gln)
|
rs144746398
|
0.00033
|
NM_001195248.2(APTX):c.*834C>G
|
rs770908697
|
0.00032
|
NM_001195248.2(APTX):c.*858C>G
|
rs772290850
|
0.00031
|
NM_015046.7(SETX):c.4096T>C (p.Ser1366Pro)
|
rs140147684
|
0.00030
|
NM_015046.7(SETX):c.*1688A>G
|
rs773351268
|
0.00027
|
NM_015046.7(SETX):c.*891T>C
|
rs573743210
|
0.00025
|
NM_015046.7(SETX):c.*2384T>A
|
rs570456500
|
0.00022
|
NM_018319.4(TDP1):c.*1355G>A
|
rs755484553
|
0.00022
|
NM_018319.4(TDP1):c.884+5G>A
|
rs370991229
|
0.00022
|
NM_015046.7(SETX):c.*988G>A
|
rs182693244
|
0.00021
|
NM_015046.7(SETX):c.1391C>T (p.Ser464Leu)
|
rs200614765
|
0.00021
|
NM_015046.7(SETX):c.*2065dup
|
rs886063546
|
0.00019
|
NM_015046.7(SETX):c.7787C>T (p.Ala2596Val)
|
rs200507089
|
0.00019
|
NM_018319.4(TDP1):c.*1203G>T
|
rs531417402
|
0.00018
|
NM_018319.4(TDP1):c.*228T>G
|
rs954549405
|
0.00018
|
NM_015046.7(SETX):c.-123C>A
|
rs184570956
|
0.00017
|
NM_018319.4(TDP1):c.137A>G (p.Tyr46Cys)
|
rs141387488
|
0.00017
|
NM_018319.4(TDP1):c.236G>C (p.Ser79Thr)
|
rs148927677
|
0.00017
|
NM_018319.4(TDP1):c.885-15T>C
|
rs375601290
|
0.00016
|
NM_015046.7(SETX):c.7100+9T>C
|
rs200088320
|
0.00015
|
NM_018319.4(TDP1):c.208T>A (p.Ser70Thr)
|
rs140058160
|
0.00014
|
NM_015046.7(SETX):c.3992C>T (p.Pro1331Leu)
|
rs11243731
|
0.00013
|
NM_015046.7(SETX):c.*2016G>A
|
rs752950104
|
0.00012
|
NM_015046.7(SETX):c.4511A>G (p.Glu1504Gly)
|
rs781275166
|
0.00012
|
NM_018319.4(TDP1):c.*1015G>A
|
rs374734859
|
0.00011
|
NM_018319.4(TDP1):c.1342C>T (p.Arg448Trp)
|
rs141725364
|
0.00011
|
NM_015046.7(SETX):c.4020G>T (p.Lys1340Asn)
|
rs368323660
|
0.00010
|
NM_015046.7(SETX):c.431A>G (p.Asn144Ser)
|
rs767453182
|
0.00010
|
NM_018319.4(TDP1):c.*801G>A
|
rs1017363264
|
0.00010
|
NM_018319.4(TDP1):c.19T>C (p.Tyr7His)
|
rs754747710
|
0.00010
|
NM_018319.4(TDP1):c.*776T>C
|
rs761481355
|
0.00009
|
NM_018319.4(TDP1):c.15C>T (p.Gly5=)
|
rs779666160
|
0.00009
|
NM_015046.7(SETX):c.1221A>G (p.Thr407=)
|
rs377618570
|
0.00008
|
NM_015046.7(SETX):c.1374T>G (p.Phe458Leu)
|
rs201441886
|
0.00008
|
NM_015046.7(SETX):c.3103A>G (p.Lys1035Glu)
|
rs117229601
|
0.00008
|
NM_015046.7(SETX):c.5271A>G (p.Glu1757=)
|
rs200499115
|
0.00008
|
NM_018319.4(TDP1):c.-8+15T>C
|
rs767166629
|
0.00008
|
NM_015046.7(SETX):c.2469C>G (p.Phe823Leu)
|
rs141163823
|
0.00007
|
NM_015046.7(SETX):c.4204A>T (p.Thr1402Ser)
|
rs150421712
|
0.00007
|
NM_001195248.2(APTX):c.*605G>A
|
rs545625482
|
0.00006
|
NM_001195248.2(APTX):c.80T>C (p.Ile27Thr)
|
rs117041645
|
0.00006
|
NM_015046.7(SETX):c.*1523A>G
|
rs758582946
|
0.00006
|
NM_015046.7(SETX):c.*1534G>A
|
rs886063548
|
0.00006
|
NM_015046.7(SETX):c.*2610T>G
|
rs530469492
|
0.00006
|
NM_015046.7(SETX):c.1880T>C (p.Met627Thr)
|
rs199707503
|
0.00006
|
NM_015046.7(SETX):c.2717C>T (p.Ser906Leu)
|
rs148375192
|
0.00006
|
NM_015046.7(SETX):c.6161G>A (p.Ser2054Asn)
|
rs200778360
|
0.00006
|
NM_015046.7(SETX):c.6675C>T (p.Tyr2225=)
|
rs200382898
|
0.00006
|
NM_015046.7(SETX):c.768G>T (p.Leu256=)
|
rs759468738
|
0.00006
|
NM_015046.7(SETX):c.7874C>T (p.Pro2625Leu)
|
rs553413088
|
0.00006
|
NM_018319.4(TDP1):c.*904C>T
|
rs886050884
|
0.00006
|
NM_018319.4(TDP1):c.789C>T (p.His263=)
|
rs562317662
|
0.00006
|
NM_015046.7(SETX):c.1015A>C (p.Lys339Gln)
|
rs768437607
|
0.00005
|
NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr)
|
rs373375060
|
0.00005
|
NM_015046.7(SETX):c.7406T>C (p.Leu2469Pro)
|
rs151304085
|
0.00005
|
NM_001195248.2(APTX):c.740G>A (p.Arg247Gln)
|
rs142133683
|
0.00004
|
NM_015046.7(SETX):c.1416A>T (p.Lys472Asn)
|
rs886063558
|
0.00004
|
NM_015046.7(SETX):c.540A>G (p.Lys180=)
|
rs757470639
|
0.00004
|
NM_015046.7(SETX):c.6122T>C (p.Ile2041Thr)
|
rs140676924
|
0.00004
|
NM_015046.7(SETX):c.6435C>T (p.Ile2145=)
|
rs374110190
|
0.00004
|
NM_015046.7(SETX):c.9A>G (p.Thr3=)
|
rs139681694
|
0.00004
|
NM_018319.4(TDP1):c.*1200G>A
|
rs758892109
|
0.00004
|
NM_018319.4(TDP1):c.*37T>C
|
rs374710359
|
0.00004
|
NM_018319.4(TDP1):c.757G>A (p.Ala253Thr)
|
rs202165305
|
0.00004
|
NM_001195248.2(APTX):c.375A>T (p.Glu125Asp)
|
rs886063858
|
0.00003
|
NM_015046.7(SETX):c.3117A>G (p.Ile1039Met)
|
rs886063555
|
0.00003
|
NM_015046.7(SETX):c.6396+8G>C
|
rs752365500
|
0.00003
|
NM_015046.7(SETX):c.6829T>C (p.Leu2277=)
|
rs189444354
|
0.00003
|
NM_015046.7(SETX):c.710A>G (p.Tyr237Cys)
|
rs138538492
|
0.00003
|
NM_015046.7(SETX):c.7851G>A (p.Thr2617=)
|
rs747616517
|
0.00003
|
NM_015046.7(SETX):c.806C>T (p.Ser269Leu)
|
rs757988188
|
0.00003
|
NM_018319.4(TDP1):c.*264G>T
|
rs779122283
|
0.00003
|
NM_018319.4(TDP1):c.*631C>T
|
rs1027214918
|
0.00003
|
NM_018319.4(TDP1):c.1799C>T (p.Thr600Met)
|
rs772139596
|
0.00003
|
NM_018319.4(TDP1):c.353C>T (p.Ala118Val)
|
rs150113775
|
0.00003
|
NM_018319.4(TDP1):c.716A>G (p.His239Arg)
|
rs750038981
|
0.00003
|
NM_018319.4(TDP1):c.998C>T (p.Pro333Leu)
|
rs142600338
|
0.00003
|
NM_015046.7(SETX):c.*1442T>G
|
rs886063549
|
0.00002
|
NM_015046.7(SETX):c.*491G>A
|
rs1285017063
|
0.00002
|
NM_015046.7(SETX):c.*666C>G
|
rs886063551
|
0.00002
|
NM_015046.7(SETX):c.1492A>G (p.Thr498Ala)
|
rs779544809
|
0.00002
|
NM_015046.7(SETX):c.2439A>C (p.Glu813Asp)
|
rs190841601
|
0.00002
|
NM_015046.7(SETX):c.3200C>T (p.Thr1067Ile)
|
rs374091487
|
0.00002
|
NM_015046.7(SETX):c.4672A>G (p.Thr1558Ala)
|
rs764920626
|
0.00002
|
NM_015046.7(SETX):c.4853C>G (p.Ser1618Ter)
|
rs553512431
|
0.00002
|
NM_015046.7(SETX):c.5403A>C (p.Lys1801Asn)
|
rs762071010
|
0.00002
|
NM_015046.7(SETX):c.5509C>T (p.His1837Tyr)
|
rs749395151
|
0.00002
|
NM_015046.7(SETX):c.6356T>C (p.Val2119Ala)
|
rs781741533
|
0.00002
|
NM_015046.7(SETX):c.7089C>T (p.Phe2363=)
|
rs141497098
|
0.00002
|
NM_015046.7(SETX):c.7287+9C>A
|
rs769170686
|
0.00002
|
NM_015046.7(SETX):c.7330C>T (p.Arg2444Cys)
|
rs372535542
|
0.00002
|
NM_018319.4(TDP1):c.1527G>C (p.Trp509Cys)
|
rs369742694
|
0.00002
|
NM_015046.7(SETX):c.*13A>T
|
rs1204954131
|
0.00001
|
NM_015046.7(SETX):c.*1420A>T
|
rs751833631
|
0.00001
|
NM_015046.7(SETX):c.*1722A>G
|
rs963398615
|
0.00001
|
NM_015046.7(SETX):c.*2232T>C
|
rs545456048
|
0.00001
|
NM_015046.7(SETX):c.*2287T>C
|
rs1842428001
|
0.00001
|
NM_015046.7(SETX):c.*869C>T
|
rs1354270999
|
0.00001
|
NM_015046.7(SETX):c.2003A>G (p.Asn668Ser)
|
rs780898043
|
0.00001
|
NM_015046.7(SETX):c.2278A>G (p.Thr760Ala)
|
rs373647065
|
0.00001
|
NM_015046.7(SETX):c.2295C>A (p.Phe765Leu)
|
rs771954896
|
0.00001
|
NM_015046.7(SETX):c.2779A>G (p.Met927Val)
|
rs886063556
|
0.00001
|
NM_015046.7(SETX):c.2934C>T (p.Ser978=)
|
rs144154512
|
0.00001
|
NM_015046.7(SETX):c.36T>C (p.Ala12=)
|
rs1198947358
|
0.00001
|
NM_015046.7(SETX):c.3900C>T (p.Ser1300=)
|
rs886063554
|
0.00001
|
NM_015046.7(SETX):c.4989T>A (p.Ser1663=)
|
rs185338915
|
0.00001
|
NM_015046.7(SETX):c.5697G>A (p.Arg1899=)
|
rs765849036
|
0.00001
|
NM_015046.7(SETX):c.5786C>T (p.Ala1929Val)
|
rs200571606
|
0.00001
|
NM_015046.7(SETX):c.617A>G (p.Glu206Gly)
|
rs759880306
|
0.00001
|
NM_015046.7(SETX):c.6313C>T (p.Arg2105Trp)
|
rs142843968
|
0.00001
|
NM_015046.7(SETX):c.7290A>T (p.Glu2430Asp)
|
rs912160285
|
0.00001
|
NM_015046.7(SETX):c.7771G>A (p.Ala2591Thr)
|
rs146862359
|
0.00001
|
NM_015046.7(SETX):c.7814G>A (p.Arg2605Gln)
|
rs543247171
|
0.00001
|
NM_018319.3(TDP1):c.-278C>T
|
rs886050880
|
0.00001
|
NM_018319.4(TDP1):c.*1239T>C
|
rs1387359215
|
0.00001
|
NM_018319.4(TDP1):c.*1367A>G
|
rs1462755052
|
0.00001
|
NM_018319.4(TDP1):c.*774G>A
|
rs372910082
|
0.00001
|
NM_018319.4(TDP1):c.-38G>A
|
rs1037056557
|
0.00001
|
NM_018319.4(TDP1):c.643T>C (p.Tyr215His)
|
rs754702237
|
0.00001
|
NM_018319.4(TDP1):c.68C>T (p.Pro23Leu)
|
rs1428279795
|
0.00001
|
NM_018319.4(TDP1):c.84A>G (p.Pro28=)
|
rs1596498067
|
0.00001
|
NM_018319.4(TDP1):c.896del (p.Ser299fs)
|
rs773960264
|
0.00001
|
NM_001195248.2(APTX):c.*851_*852del
|
rs377365362
|
|
NM_001195248.2(APTX):c.484-25_484-5del
|
rs200922655
|
|
NM_001195248.2(APTX):c.742T>C (p.Leu248=)
|
rs141195622
|
|
NM_001195248.2(APTX):c.771-12dup
|
rs34600530
|
|
NM_015046.5(SETX):c.-190G>A
|
rs1055615359
|
|
NM_015046.7(SETX):c.*1050A>C
|
rs1842477894
|
|
NM_015046.7(SETX):c.*1148T>C
|
rs138991890
|
|
NM_015046.7(SETX):c.*1148T>G
|
rs138991890
|
|
NM_015046.7(SETX):c.*1233A>G
|
rs1388263414
|
|
NM_015046.7(SETX):c.*1368G>A
|
rs7025
|
|
NM_015046.7(SETX):c.*1370G>C
|
rs116822064
|
|
NM_015046.7(SETX):c.*1433A>T
|
rs886063550
|
|
NM_015046.7(SETX):c.*1487A>G
|
rs1842460355
|
|
NM_015046.7(SETX):c.*1494A>G
|
rs1327797847
|
|
NM_015046.7(SETX):c.*1713C>T
|
rs771853459
|
|
NM_015046.7(SETX):c.*1987T>C
|
rs1589593075
|
|
NM_015046.7(SETX):c.*2002A>G
|
rs886063547
|
|
NM_015046.7(SETX):c.*2015C>T
|
rs552487555
|
|
NM_015046.7(SETX):c.*2136A>T
|
rs886063545
|
|
NM_015046.7(SETX):c.*2190A>G
|
rs531640605
|
|
NM_015046.7(SETX):c.*2576_*2577del
|
rs886063544
|
|
NM_015046.7(SETX):c.*2639T>C
|
rs886063543
|
|
NM_015046.7(SETX):c.*266A>G
|
rs575959163
|
|
NM_015046.7(SETX):c.*2753G>A
|
rs886063542
|
|
NM_015046.7(SETX):c.*431_*432del
|
rs112251805
|
|
NM_015046.7(SETX):c.*608G>C
|
rs528924481
|
|
NM_015046.7(SETX):c.-154G>C
|
rs886063561
|
|
NM_015046.7(SETX):c.1358A>G (p.Lys453Arg)
|
rs886063559
|
|
NM_015046.7(SETX):c.156T>C (p.Asp52=)
|
rs1848476611
|
|
NM_015046.7(SETX):c.1922C>G (p.Ser641Cys)
|
rs886063557
|
|
NM_015046.7(SETX):c.1993G>C (p.Glu665Gln)
|
rs1339144218
|
|
NM_015046.7(SETX):c.2517C>T (p.His839=)
|
rs1464623855
|
|
NM_015046.7(SETX):c.2533C>T (p.Pro845Ser)
|
rs1847046317
|
|
NM_015046.7(SETX):c.2698A>G (p.Thr900Ala)
|
rs1320466105
|
|
NM_015046.7(SETX):c.3021T>A (p.Asp1007Glu)
|
rs1847007637
|
|
NM_015046.7(SETX):c.32G>A (p.Gly11Asp)
|
rs886063560
|
|
NM_015046.7(SETX):c.389-9del
|
rs534931548
|
|
NM_015046.7(SETX):c.397T>G (p.Cys133Gly)
|
rs766625711
|
|
NM_015046.7(SETX):c.4053A>G (p.Gln1351=)
|
rs886063553
|
|
NM_015046.7(SETX):c.4924C>A (p.Pro1642Thr)
|
rs375942182
|
|
NM_015046.7(SETX):c.5267T>A (p.Phe1756Tyr)
|
rs762175796
|
|
NM_015046.7(SETX):c.5315T>C (p.Phe1772Ser)
|
rs886063552
|
|
NM_015046.7(SETX):c.5809G>T (p.Asp1937Tyr)
|
rs1844714133
|
|
NM_015046.7(SETX):c.60C>T (p.Arg20=)
|
rs553346505
|
|
NM_015046.7(SETX):c.6106+8A>G
|
rs1314479594
|
|
NM_015046.7(SETX):c.6843-6_6843-5dup
|
rs34769225
|
|
NM_015046.7(SETX):c.7100+3G>A
|
rs752203746
|
|
NM_015046.7(SETX):c.7375G>A (p.Ala2459Thr)
|
rs1182285610
|
|
NM_015046.7(SETX):c.737C>G (p.Thr246Ser)
|
rs1847481832
|
|
NM_015046.7(SETX):c.7648A>G (p.Lys2550Glu)
|
rs1842546596
|
|
NM_015046.7(SETX):c.7735G>A (p.Val2579Ile)
|
rs144121978
|
|
NM_015046.7(SETX):c.7750C>T (p.Leu2584=)
|
rs1842537896
|
|
NM_015046.7(SETX):c.7775C>T (p.Ala2592Val)
|
rs1842534708
|
|
NM_015046.7(SETX):c.77C>G (p.Pro26Arg)
|
rs377617692
|
|
NM_015046.7(SETX):c.7825C>G (p.Pro2609Ala)
|
rs765888424
|
|
NM_015046.7(SETX):c.988C>T (p.His330Tyr)
|
rs1847220041
|
|
NM_018319.3(TDP1):c.-275C>G
|
rs886050881
|
|
NM_018319.4(TDP1):c.*1099G>A
|
rs1888617977
|
|
NM_018319.4(TDP1):c.*134A>C
|
rs780471860
|
|
NM_018319.4(TDP1):c.*135T>C
|
rs1566938109
|
|
NM_018319.4(TDP1):c.*1399T>A
|
rs1888638490
|
|
NM_018319.4(TDP1):c.*1511C>G
|
rs1596750474
|
|
NM_018319.4(TDP1):c.*932C>T
|
rs537989252
|
|
NM_018319.4(TDP1):c.-242T>G
|
rs533696578
|
|
NM_018319.4(TDP1):c.-243C>T
|
rs886873955
|
|
NM_018319.4(TDP1):c.-264G>A
|
rs1891509764
|
|
NM_018319.4(TDP1):c.-55C>G
|
rs751280891
|
|
NM_018319.4(TDP1):c.-76T>C
|
rs886050883
|
|
NM_018319.4(TDP1):c.1201G>T (p.Val401Phe)
|
rs892739281
|
|
NM_018319.4(TDP1):c.1611C>G (p.Tyr537Ter)
|
rs772318046
|
|
NM_018319.4(TDP1):c.25A>G (p.Arg9Gly)
|
rs906821798
|
|