NM_015046.7(SETX):c.388+51C>T
|
rs497650
|
0.99588
|
NM_015046.7(SETX):c.839-144T>C
|
rs580964
|
0.90346
|
NM_015046.7(SETX):c.1098+208C>T
|
rs9411448
|
0.89769
|
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.719-210T>G
|
rs573913
|
0.69538
|
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_015046.7(SETX):c.6547-287G>T
|
rs10441804
|
0.44540
|
NM_015046.7(SETX):c.7759A>G (p.Ile2587Val)
|
rs1056899
|
0.44536
|
NM_015046.7(SETX):c.6655-24G>A
|
rs11243704
|
0.44367
|
NM_015046.7(SETX):c.389-157T>C
|
rs514279
|
0.42979
|
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_015046.7(SETX):c.5949+111A>G
|
rs2296868
|
0.31582
|
NM_015046.7(SETX):c.5549-59C>A
|
rs6597570
|
0.31568
|
NM_015046.7(SETX):c.5782-224G>C
|
rs2296870
|
0.29779
|
NM_015046.7(SETX):c.5374+16C>T
|
rs2296872
|
0.24325
|
NM_015046.7(SETX):c.5549-250G>C
|
rs7875226
|
0.24281
|
NM_015046.7(SETX):c.5781+12dup
|
rs3831154
|
0.24271
|
NM_015046.7(SETX):c.5549-193A>G
|
rs6597571
|
0.24266
|
NM_015046.7(SETX):c.6654+215A>G
|
rs3736997
|
0.18239
|
NM_015046.7(SETX):c.6842+302C>T
|
rs13285992
|
0.17880
|
NM_015046.7(SETX):c.7199+104T>C
|
rs7046688
|
0.17775
|
NM_015046.7(SETX):c.6936-100C>A
|
rs2296867
|
0.16552
|
NM_015046.7(SETX):c.7100+27A>G
|
rs2296865
|
0.16223
|
NM_015046.7(SETX):c.7100+182T>G
|
rs17148869
|
0.16201
|
NM_015046.7(SETX):c.6654+152T>A
|
rs3736998
|
0.16154
|
NM_015046.7(SETX):c.498+268A>G
|
rs11790705
|
0.15078
|
NM_015046.7(SETX):c.6655-29A>G
|
rs11243705
|
0.14272
|
NM_015046.7(SETX):c.1979C>G (p.Ala660Gly)
|
rs882709
|
0.12168
|
NM_015046.7(SETX):c.6655-237T>C
|
rs113154441
|
0.10176
|
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.6655-309A>G
|
rs78084433
|
0.09258
|
NM_015046.7(SETX):c.389-142C>A
|
rs13294324
|
0.09257
|
NM_015046.7(SETX):c.5949+220C>T
|
rs58808218
|
0.08527
|
NM_015046.7(SETX):c.7834A>G (p.Ser2612Gly)
|
rs3739927
|
0.08329
|
NM_015046.7(SETX):c.6106+258A>G
|
rs73661156
|
0.07699
|
NM_015046.7(SETX):c.3147C>T (p.His1049=)
|
rs3739921
|
0.07515
|
NM_015046.7(SETX):c.6546+32T>A
|
rs2296873
|
0.07069
|
NM_015046.7(SETX):c.6546+321T>C
|
rs2296875
|
0.07067
|
NM_015046.7(SETX):c.6546+108C>G
|
rs2296874
|
0.06821
|
NM_015046.7(SETX):c.6936-315C>T
|
rs77811978
|
0.06714
|
NM_015046.7(SETX):c.6842+221A>G
|
rs7025628
|
0.06495
|
NM_015046.7(SETX):c.5949+253C>T
|
rs75403090
|
0.05668
|
NM_015046.7(SETX):c.498+30T>C
|
rs11790312
|
0.05653
|
NM_015046.7(SETX):c.5549-172C>T
|
rs7874311
|
0.05320
|
NM_015046.7(SETX):c.1099-73T>C
|
rs1011378
|
0.05059
|
NM_015046.7(SETX):c.178-209T>C
|
rs11243734
|
0.04747
|
NM_015046.7(SETX):c.7288-60A>G
|
rs76392709
|
0.04746
|
NM_015046.7(SETX):c.3455T>G (p.Phe1152Cys)
|
rs3739922
|
0.04708
|
NM_015046.7(SETX):c.6396+80A>G
|
rs59825291
|
0.04291
|
NM_015046.7(SETX):c.7199+255G>A
|
rs112275403
|
0.04204
|
NM_015046.7(SETX):c.*1700G>T
|
rs75682594
|
0.03993
|
NM_015046.7(SETX):c.-114-108C>T
|
rs117395901
|
0.02465
|
NM_015046.7(SETX):c.498+20G>A
|
rs73659013
|
0.02106
|
NM_015046.7(SETX):c.6936-27T>G
|
rs2296866
|
0.02083
|
NM_015046.7(SETX):c.6325-195G>A
|
rs73661155
|
0.01841
|
NM_015046.7(SETX):c.6106+14G>A
|
rs73661157
|
0.01840
|
NM_015046.7(SETX):c.-7-298A>G
|
rs56204293
|
0.01821
|
NM_015046.7(SETX):c.5274+46A>T
|
rs61739429
|
0.01710
|
NM_015046.7(SETX):c.6936-51G>A
|
rs62576467
|
0.01660
|
NM_015046.7(SETX):c.6547-164G>A
|
rs12336849
|
0.01647
|
NM_015046.7(SETX):c.3182C>T (p.Pro1061Leu)
|
rs12352982
|
0.01591
|
NM_015046.7(SETX):c.6324+195G>A
|
rs115107300
|
0.01544
|
NM_015046.7(SETX):c.-114-30C>T
|
rs77685248
|
0.01447
|
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.6842+98G>A
|
rs35537391
|
0.01284
|
NM_015046.7(SETX):c.6325-304C>T
|
rs78636572
|
0.01241
|
NM_015046.7(SETX):c.*351G>T
|
rs117409290
|
0.01236
|
NM_015046.7(SETX):c.7288-239C>A
|
rs375201172
|
0.00922
|
NM_015046.7(SETX):c.6396+199G>A
|
rs112673349
|
0.00856
|
NM_015046.7(SETX):c.5275-291G>A
|
rs77241663
|
0.00838
|
NM_015046.7(SETX):c.-8+161G>A
|
rs187132021
|
0.00819
|
NM_015046.7(SETX):c.838+233C>T
|
rs150900422
|
0.00723
|
NM_015046.7(SETX):c.718+113G>A
|
rs144636697
|
0.00718
|
NM_015046.7(SETX):c.498+194C>G
|
rs116531130
|
0.00711
|
NM_015046.7(SETX):c.7288-302C>T
|
rs150197925
|
0.00696
|
NM_015046.7(SETX):c.5375-224A>G
|
rs116514878
|
0.00688
|
NM_015046.7(SETX):c.1968A>G (p.Val656=)
|
rs113997459
|
0.00654
|
NM_015046.7(SETX):c.1957C>A (p.Gln653Lys)
|
rs116333061
|
0.00653
|
NM_015046.7(SETX):c.7905C>T (p.Ala2635=)
|
rs112201716
|
0.00633
|
NM_015046.7(SETX):c.59G>A (p.Arg20His)
|
rs79740039
|
0.00602
|
NM_015046.7(SETX):c.6546+104G>A
|
rs577168773
|
0.00593
|
NM_015046.7(SETX):c.389-158A>G
|
rs148824283
|
0.00582
|
NM_015046.7(SETX):c.*319C>T
|
rs1056912
|
0.00570
|
NM_015046.7(SETX):c.389-347G>A
|
rs190081802
|
0.00548
|
NM_015046.7(SETX):c.5275-43T>C
|
rs144258500
|
0.00547
|
NM_015046.7(SETX):c.6935+47A>T
|
rs563210323
|
0.00521
|
NM_015046.7(SETX):c.6935+51del
|
rs1307477082
|
0.00519
|
NM_015046.7(SETX):c.1807A>G (p.Asn603Asp)
|
rs116205032
|
0.00493
|
NM_015046.7(SETX):c.4755T>G (p.Pro1585=)
|
rs151237267
|
0.00484
|
NM_015046.7(SETX):c.6547-27T>C
|
rs114889188
|
0.00481
|
NM_015046.7(SETX):c.6936-110A>G
|
rs144331722
|
0.00480
|
NM_015046.7(SETX):c.7100+233T>C
|
rs73545071
|
0.00478
|
NM_015046.7(SETX):c.2672T>C (p.Val891Ala)
|
rs148181729
|
0.00470
|
NM_015046.7(SETX):c.388+266C>T
|
rs114734765
|
0.00467
|
NM_015046.7(SETX):c.178-66G>A
|
rs147919430
|
0.00466
|
NM_015046.7(SETX):c.*475A>C
|
rs60760878
|
0.00452
|
NM_015046.7(SETX):c.-7-87G>A
|
rs138786137
|
0.00445
|
NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr)
|
rs151117904
|
0.00431
|
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.3568A>G (p.Lys1190Glu)
|
rs35473230
|
0.00364
|
NM_015046.7(SETX):c.6108A>G (p.Gly2036=)
|
rs35815657
|
0.00358
|
NM_015046.7(SETX):c.472T>G (p.Leu158Val)
|
rs145438764
|
0.00347
|
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.5950-48C>A
|
rs148438673
|
0.00285
|
NM_015046.7(SETX):c.4660T>G (p.Cys1554Gly)
|
rs112089123
|
0.00250
|
NM_015046.7(SETX):c.2401A>G (p.Lys801Glu)
|
rs149718424
|
0.00229
|
NM_015046.7(SETX):c.2981A>G (p.Asp994Gly)
|
rs149546633
|
0.00216
|
NM_015046.7(SETX):c.7114G>A (p.Asp2372Asn)
|
rs150673589
|
0.00178
|
NM_015046.7(SETX):c.3310C>G (p.Gln1104Glu)
|
rs113831637
|
0.00173
|
NM_015046.7(SETX):c.7101A>G (p.Gly2367=)
|
rs79233884
|
0.00141
|
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.2124T>C (p.Ser708=)
|
rs139236924
|
0.00093
|
NM_015046.7(SETX):c.4982C>G (p.Pro1661Arg)
|
rs146873848
|
0.00080
|
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.717A>G (p.Leu239=)
|
rs147125311
|
0.00076
|
NM_015046.7(SETX):c.81C>T (p.Ser27=)
|
rs149229231
|
0.00076
|
NM_015046.7(SETX):c.3010A>G (p.Asn1004Asp)
|
rs77984885
|
0.00075
|
NM_015046.7(SETX):c.7870G>T (p.Asp2624Tyr)
|
rs141589525
|
0.00073
|
NM_015046.7(SETX):c.2282C>T (p.Ser761Leu)
|
rs200153024
|
0.00059
|
NM_015046.7(SETX):c.2479A>G (p.Lys827Glu)
|
rs150532677
|
0.00058
|
NM_015046.7(SETX):c.3336T>C (p.Ala1112=)
|
rs150687078
|
0.00053
|
NM_015046.7(SETX):c.4197A>G (p.Thr1399=)
|
rs148078248
|
0.00052
|
NM_015046.7(SETX):c.3965C>A (p.Thr1322Asn)
|
rs144900653
|
0.00051
|
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_015046.7(SETX):c.178-29C>T
|
rs202032589
|
0.00039
|
NM_015046.7(SETX):c.3345C>G (p.Ala1115=)
|
rs142020270
|
0.00039
|
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_015046.7(SETX):c.7432A>G (p.Thr2478Ala)
|
rs142303658
|
0.00038
|
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_015046.7(SETX):c.4612C>T (p.Arg1538Trp)
|
rs147018359
|
0.00035
|
NM_015046.7(SETX):c.4433C>A (p.Ala1478Glu)
|
rs143661911
|
0.00034
|
NM_015046.7(SETX):c.7982A>G (p.Lys2661Arg)
|
rs199921065
|
0.00034
|
NM_015046.7(SETX):c.2955G>A (p.Ser985=)
|
rs201251074
|
0.00031
|
NM_015046.7(SETX):c.4096T>C (p.Ser1366Pro)
|
rs140147684
|
0.00030
|
NM_015046.7(SETX):c.4090A>G (p.Arg1364Gly)
|
rs142134306
|
0.00026
|
NM_015046.7(SETX):c.5998C>G (p.Gln2000Glu)
|
rs142917412
|
0.00026
|
NM_015046.7(SETX):c.1391C>T (p.Ser464Leu)
|
rs200614765
|
0.00021
|
NM_015046.7(SETX):c.4273A>G (p.Lys1425Glu)
|
rs534886444
|
0.00020
|
NM_015046.7(SETX):c.7991T>C (p.Leu2664Pro)
|
rs143798689
|
0.00019
|
NM_015046.7(SETX):c.968G>A (p.Ser323Asn)
|
rs372193033
|
0.00019
|
NM_015046.7(SETX):c.1066G>A (p.Val356Ile)
|
rs143270460
|
0.00016
|
NM_015046.7(SETX):c.6013G>A (p.Val2005Met)
|
rs148568105
|
0.00016
|
NM_015046.7(SETX):c.7195A>G (p.Ile2399Val)
|
rs150489999
|
0.00016
|
NM_015046.7(SETX):c.1869A>C (p.Glu623Asp)
|
rs139200312
|
0.00015
|
NM_015046.7(SETX):c.7100+9T>C
|
rs200088320
|
0.00015
|
NM_015046.7(SETX):c.5294A>G (p.Asn1765Ser)
|
rs373085593
|
0.00013
|
NM_015046.7(SETX):c.7490G>A (p.Ser2497Asn)
|
rs61735488
|
0.00013
|
NM_015046.7(SETX):c.3505A>G (p.Met1169Val)
|
rs573849874
|
0.00012
|
NM_015046.7(SETX):c.5051C>G (p.Ser1684Cys)
|
rs140116005
|
0.00012
|
NM_015046.7(SETX):c.3090T>C (p.Leu1030=)
|
rs368677513
|
0.00011
|
NM_015046.7(SETX):c.7092T>C (p.Asp2364=)
|
rs144607919
|
0.00011
|
NM_015046.7(SETX):c.1504C>T (p.Arg502Trp)
|
rs534723946
|
0.00010
|
NM_015046.7(SETX):c.2750T>C (p.Met917Thr)
|
rs376022544
|
0.00009
|
NM_015046.7(SETX):c.4631T>C (p.Leu1544Ser)
|
rs754357821
|
0.00009
|
NM_015046.7(SETX):c.5852A>G (p.His1951Arg)
|
rs146593865
|
0.00009
|
NM_015046.7(SETX):c.78G>A (p.Pro26=)
|
rs139972421
|
0.00009
|
NM_015046.7(SETX):c.1374T>G (p.Phe458Leu)
|
rs201441886
|
0.00008
|
NM_015046.7(SETX):c.5271A>G (p.Glu1757=)
|
rs200499115
|
0.00008
|
NM_015046.7(SETX):c.5842A>G (p.Met1948Val)
|
rs762267386
|
0.00008
|
NM_015046.7(SETX):c.7682C>T (p.Ser2561Leu)
|
rs147705644
|
0.00008
|
NM_015046.7(SETX):c.7979A>G (p.Asp2660Gly)
|
rs567672087
|
0.00008
|
NM_015046.7(SETX):c.3023C>G (p.Thr1008Ser)
|
rs372021275
|
0.00007
|
NM_015046.7(SETX):c.1227A>G (p.Leu409=)
|
rs769913556
|
0.00006
|
NM_015046.7(SETX):c.1880T>C (p.Met627Thr)
|
rs199707503
|
0.00006
|
NM_015046.7(SETX):c.234G>A (p.Lys78=)
|
rs146206138
|
0.00006
|
NM_015046.7(SETX):c.3016G>A (p.Gly1006Arg)
|
rs141266068
|
0.00006
|
NM_015046.7(SETX):c.3207T>A (p.Thr1069=)
|
rs200585636
|
0.00006
|
NM_015046.7(SETX):c.3210T>C (p.Leu1070=)
|
rs145014082
|
0.00006
|
NM_015046.7(SETX):c.4136A>G (p.His1379Arg)
|
rs181158146
|
0.00006
|
NM_015046.7(SETX):c.5537G>A (p.Arg1846His)
|
rs373571937
|
0.00006
|
NM_015046.7(SETX):c.5712A>G (p.Arg1904=)
|
rs750372437
|
0.00006
|
NM_015046.7(SETX):c.6161G>A (p.Ser2054Asn)
|
rs200778360
|
0.00006
|
NM_015046.7(SETX):c.658A>C (p.Lys220Gln)
|
rs761180215
|
0.00006
|
NM_015046.7(SETX):c.7660T>A (p.Phe2554Ile)
|
rs368269464
|
0.00006
|
NM_015046.7(SETX):c.7874C>T (p.Pro2625Leu)
|
rs553413088
|
0.00006
|
NM_015046.7(SETX):c.1015A>C (p.Lys339Gln)
|
rs768437607
|
0.00005
|
NM_015046.7(SETX):c.2862G>A (p.Thr954=)
|
rs149610510
|
0.00005
|
NM_015046.7(SETX):c.3056C>A (p.Ser1019Tyr)
|
rs749204574
|
0.00005
|
NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr)
|
rs373375060
|
0.00005
|
NM_015046.7(SETX):c.4252C>G (p.Pro1418Ala)
|
rs747356601
|
0.00005
|
NM_015046.7(SETX):c.4865C>T (p.Pro1622Leu)
|
rs140781535
|
0.00005
|
NM_015046.7(SETX):c.4A>G (p.Ser2Gly)
|
rs149808180
|
0.00005
|
NM_015046.7(SETX):c.807G>A (p.Ser269=)
|
rs147677608
|
0.00005
|
NM_015046.7(SETX):c.991A>G (p.Ile331Val)
|
rs572884359
|
0.00005
|
NM_015046.7(SETX):c.*7C>T
|
rs754956426
|
0.00004
|
NM_015046.7(SETX):c.1140T>G (p.Pro380=)
|
rs140553290
|
0.00004
|
NM_015046.7(SETX):c.1468G>A (p.Val490Ile)
|
rs763545230
|
0.00004
|
NM_015046.7(SETX):c.146A>G (p.Lys49Arg)
|
rs142551293
|
0.00004
|
NM_015046.7(SETX):c.1626C>T (p.Leu542=)
|
rs746541015
|
0.00004
|
NM_015046.7(SETX):c.1750C>G (p.Leu584Val)
|
rs764995848
|
0.00004
|
NM_015046.7(SETX):c.1754A>G (p.Gln585Arg)
|
rs188247474
|
0.00004
|
NM_015046.7(SETX):c.2176T>C (p.Cys726Arg)
|
rs377734748
|
0.00004
|
NM_015046.7(SETX):c.2490A>C (p.Gly830=)
|
rs751429987
|
0.00004
|
NM_015046.7(SETX):c.2502A>G (p.Gly834=)
|
rs762818441
|
0.00004
|
NM_015046.7(SETX):c.2543T>G (p.Val848Gly)
|
rs567711722
|
0.00004
|
NM_015046.7(SETX):c.2935G>A (p.Asp979Asn)
|
rs138287942
|
0.00004
|
NM_015046.7(SETX):c.3029G>A (p.Arg1010His)
|
rs370781594
|
0.00004
|
NM_015046.7(SETX):c.3115A>G (p.Ile1039Val)
|
rs372529790
|
0.00004
|
NM_015046.7(SETX):c.3587A>G (p.Asn1196Ser)
|
rs376381668
|
0.00004
|
NM_015046.7(SETX):c.377A>G (p.His126Arg)
|
rs368932301
|
0.00004
|
NM_015046.7(SETX):c.3968G>A (p.Arg1323Gln)
|
rs369542231
|
0.00004
|
NM_015046.7(SETX):c.399T>C (p.Cys133=)
|
rs779515782
|
0.00004
|
NM_015046.7(SETX):c.4202G>T (p.Gly1401Val)
|
rs185868357
|
0.00004
|
NM_015046.7(SETX):c.4436C>T (p.Ala1479Val)
|
rs761119964
|
0.00004
|
NM_015046.7(SETX):c.4828C>T (p.Leu1610Phe)
|
rs749891883
|
0.00004
|
NM_015046.7(SETX):c.4979A>G (p.His1660Arg)
|
rs371894414
|
0.00004
|
NM_015046.7(SETX):c.540A>G (p.Lys180=)
|
rs757470639
|
0.00004
|
NM_015046.7(SETX):c.546C>A (p.Asp182Glu)
|
rs199748733
|
0.00004
|
NM_015046.7(SETX):c.5591_5592del (p.Gln1864fs)
|
rs776470487
|
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.6910G>T (p.Asp2304Tyr)
|
rs774458684
|
0.00004
|
NM_015046.7(SETX):c.7073A>G (p.Asp2358Gly)
|
rs770469636
|
0.00004
|
NM_015046.7(SETX):c.719-4A>G
|
rs775443601
|
0.00004
|
NM_015046.7(SETX):c.7715C>T (p.Thr2572Met)
|
rs773364996
|
0.00004
|
NM_015046.7(SETX):c.7741C>T (p.His2581Tyr)
|
rs530686162
|
0.00004
|
NM_015046.7(SETX):c.839-6T>C
|
rs760584527
|
0.00004
|
NM_015046.7(SETX):c.1343A>G (p.Asp448Gly)
|
rs370363342
|
0.00003
|
NM_015046.7(SETX):c.2045A>G (p.His682Arg)
|
rs373850132
|
0.00003
|
NM_015046.7(SETX):c.2390A>G (p.Lys797Arg)
|
rs1273786747
|
0.00003
|
NM_015046.7(SETX):c.2399G>T (p.Arg800Met)
|
rs761725498
|
0.00003
|
NM_015046.7(SETX):c.2411T>C (p.Leu804Ser)
|
rs201096140
|
0.00003
|
NM_015046.7(SETX):c.2755G>C (p.Val919Leu)
|
rs561190371
|
0.00003
|
NM_015046.7(SETX):c.3298A>G (p.Asn1100Asp)
|
rs1230355404
|
0.00003
|
NM_015046.7(SETX):c.4291C>G (p.Pro1431Ala)
|
rs371541705
|
0.00003
|
NM_015046.7(SETX):c.4390C>T (p.Pro1464Ser)
|
rs756080695
|
0.00003
|
NM_015046.7(SETX):c.4417C>T (p.Arg1473Cys)
|
rs781185115
|
0.00003
|
NM_015046.7(SETX):c.4423A>G (p.Ile1475Val)
|
rs376678876
|
0.00003
|
NM_015046.7(SETX):c.4685G>A (p.Gly1562Asp)
|
rs771969117
|
0.00003
|
NM_015046.7(SETX):c.5071C>A (p.Leu1691Ile)
|
rs756770572
|
0.00003
|
NM_015046.7(SETX):c.5103C>T (p.Phe1701=)
|
rs773628961
|
0.00003
|
NM_015046.7(SETX):c.5591A>C (p.Gln1864Pro)
|
rs375747001
|
0.00003
|
NM_015046.7(SETX):c.5927T>G (p.Leu1976Arg)
|
rs121434379
|
0.00003
|
NM_015046.7(SETX):c.6085A>G (p.Lys2029Glu)
|
rs746525639
|
0.00003
|
NM_015046.7(SETX):c.6829T>C (p.Leu2277=)
|
rs189444354
|
0.00003
|
NM_015046.7(SETX):c.7818C>T (p.Gly2606=)
|
rs764270386
|
0.00003
|
NM_015046.7(SETX):c.806C>T (p.Ser269Leu)
|
rs757988188
|
0.00003
|
NM_015046.7(SETX):c.1467C>T (p.Val489=)
|
rs142093830
|
0.00002
|
NM_015046.7(SETX):c.1815T>C (p.Phe605=)
|
rs753675238
|
0.00002
|
NM_015046.7(SETX):c.1858A>G (p.Asn620Asp)
|
rs777081940
|
0.00002
|
NM_015046.7(SETX):c.2101G>A (p.Ala701Thr)
|
rs769620847
|
0.00002
|
NM_015046.7(SETX):c.2842C>A (p.Pro948Thr)
|
rs778882347
|
0.00002
|
NM_015046.7(SETX):c.3200C>T (p.Thr1067Ile)
|
rs374091487
|
0.00002
|
NM_015046.7(SETX):c.3880C>T (p.Arg1294Cys)
|
rs267607044
|
0.00002
|
NM_015046.7(SETX):c.4180T>C (p.Ser1394Pro)
|
rs780078856
|
0.00002
|
NM_015046.7(SETX):c.4369A>G (p.Ile1457Val)
|
rs747804357
|
0.00002
|
NM_015046.7(SETX):c.4525T>C (p.Cys1509Arg)
|
rs543647990
|
0.00002
|
NM_015046.7(SETX):c.4672A>G (p.Thr1558Ala)
|
rs764920626
|
0.00002
|
NM_015046.7(SETX):c.4906A>G (p.Lys1636Glu)
|
rs368931174
|
0.00002
|
NM_015046.7(SETX):c.5278G>A (p.Ala1760Thr)
|
rs764316153
|
0.00002
|
NM_015046.7(SETX):c.5322G>T (p.Gln1774His)
|
rs771691157
|
0.00002
|
NM_015046.7(SETX):c.5403A>C (p.Lys1801Asn)
|
rs762071010
|
0.00002
|
NM_015046.7(SETX):c.5535C>T (p.Arg1845=)
|
rs200433173
|
0.00002
|
NM_015046.7(SETX):c.5552G>A (p.Arg1851His)
|
rs137978070
|
0.00002
|
NM_015046.7(SETX):c.5603C>T (p.Pro1868Leu)
|
rs370368422
|
0.00002
|
NM_015046.7(SETX):c.6029A>G (p.Asn2010Ser)
|
rs759806045
|
0.00002
|
NM_015046.7(SETX):c.6106G>A (p.Gly2036Arg)
|
rs863224919
|
0.00002
|
NM_015046.7(SETX):c.6356T>C (p.Val2119Ala)
|
rs781741533
|
0.00002
|
NM_015046.7(SETX):c.635C>G (p.Thr212Ser)
|
rs771502043
|
0.00002
|
NM_015046.7(SETX):c.6668A>G (p.Tyr2223Cys)
|
rs747913385
|
0.00002
|
NM_015046.7(SETX):c.7967A>G (p.Asn2656Ser)
|
rs745394467
|
0.00002
|
NM_015046.7(SETX):c.855T>C (p.Pro285=)
|
rs141736312
|
0.00002
|
NM_015046.7(SETX):c.1288G>A (p.Ala430Thr)
|
rs778488721
|
0.00001
|
NM_015046.7(SETX):c.1579C>G (p.Pro527Ala)
|
rs774240718
|
0.00001
|
NM_015046.7(SETX):c.1670G>A (p.Arg557Gln)
|
rs548433078
|
0.00001
|
NM_015046.7(SETX):c.2005A>T (p.Asn669Tyr)
|
rs143727702
|
0.00001
|
NM_015046.7(SETX):c.2125A>G (p.Thr709Ala)
|
rs750530263
|
0.00001
|
NM_015046.7(SETX):c.2233C>T (p.Arg745Cys)
|
rs780121182
|
0.00001
|
NM_015046.7(SETX):c.2245G>A (p.Asp749Asn)
|
rs922821119
|
0.00001
|
NM_015046.7(SETX):c.2254A>G (p.Thr752Ala)
|
rs745938575
|
0.00001
|
NM_015046.7(SETX):c.2278A>G (p.Thr760Ala)
|
rs373647065
|
0.00001
|
NM_015046.7(SETX):c.2607_2609del (p.Lys870del)
|
rs781159054
|
0.00001
|
NM_015046.7(SETX):c.2711A>G (p.Asn904Ser)
|
rs143265750
|
0.00001
|
NM_015046.7(SETX):c.272A>G (p.Asp91Gly)
|
rs1327343862
|
0.00001
|
NM_015046.7(SETX):c.2779A>G (p.Met927Val)
|
rs886063556
|
0.00001
|
NM_015046.7(SETX):c.2985A>C (p.Lys995Asn)
|
rs1285317289
|
0.00001
|
NM_015046.7(SETX):c.3040A>G (p.Ile1014Val)
|
rs761243379
|
0.00001
|
NM_015046.7(SETX):c.3299A>C (p.Asn1100Thr)
|
rs545072717
|
0.00001
|
NM_015046.7(SETX):c.3410G>A (p.Gly1137Asp)
|
rs62576475
|
0.00001
|
NM_015046.7(SETX):c.3602T>C (p.Ile1201Thr)
|
rs750443804
|
0.00001
|
NM_015046.7(SETX):c.382C>T (p.Arg128Cys)
|
rs552476047
|
0.00001
|
NM_015046.7(SETX):c.3900C>T (p.Ser1300=)
|
rs886063554
|
0.00001
|
NM_015046.7(SETX):c.3931C>T (p.Arg1311Cys)
|
rs773999398
|
0.00001
|
NM_015046.7(SETX):c.4087C>T (p.Arg1363Ter)
|
rs121434376
|
0.00001
|
NM_015046.7(SETX):c.4114G>C (p.Asp1372His)
|
rs1564539457
|
0.00001
|
NM_015046.7(SETX):c.4209G>A (p.Glu1403=)
|
rs1347401564
|
0.00001
|
NM_015046.7(SETX):c.4270A>G (p.Ile1424Val)
|
rs757978377
|
0.00001
|
NM_015046.7(SETX):c.4297A>G (p.Thr1433Ala)
|
rs1038733632
|
0.00001
|
NM_015046.7(SETX):c.4312C>T (p.Pro1438Ser)
|
rs750178634
|
0.00001
|
NM_015046.7(SETX):c.4424T>C (p.Ile1475Thr)
|
rs765480069
|
0.00001
|
NM_015046.7(SETX):c.4432G>A (p.Ala1478Thr)
|
rs759545112
|
0.00001
|
NM_015046.7(SETX):c.4507C>A (p.Pro1503Thr)
|
rs745844516
|
0.00001
|
NM_015046.7(SETX):c.5171G>A (p.Ser1724Asn)
|
rs770527045
|
0.00001
|
NM_015046.7(SETX):c.5203G>A (p.Val1735Ile)
|
rs752646721
|
0.00001
|
NM_015046.7(SETX):c.5267T>C (p.Phe1756Ser)
|
rs762175796
|
0.00001
|
NM_015046.7(SETX):c.5297C>A (p.Ser1766Tyr)
|
rs1434366684
|
0.00001
|
NM_015046.7(SETX):c.5320C>T (p.Gln1774Ter)
|
rs1391764195
|
0.00001
|
NM_015046.7(SETX):c.5503G>A (p.Glu1835Lys)
|
rs143133190
|
0.00001
|
NM_015046.7(SETX):c.569A>C (p.Gln190Pro)
|
rs1173845468
|
0.00001
|
NM_015046.7(SETX):c.5825T>C (p.Ile1942Thr)
|
rs773379832
|
0.00001
|
NM_015046.7(SETX):c.5834C>T (p.Ala1945Val)
|
rs1009296937
|
0.00001
|
NM_015046.7(SETX):c.5901A>G (p.Thr1967=)
|
rs780717865
|
0.00001
|
NM_015046.7(SETX):c.5929C>T (p.Leu1977Phe)
|
rs121434380
|
0.00001
|
NM_015046.7(SETX):c.6172A>C (p.Lys2058Gln)
|
rs747309962
|
0.00001
|
NM_015046.7(SETX):c.6248G>T (p.Arg2083Ile)
|
rs751252138
|
0.00001
|
NM_015046.7(SETX):c.628A>G (p.Ile210Val)
|
rs1352654083
|
0.00001
|
NM_015046.7(SETX):c.6313C>T (p.Arg2105Trp)
|
rs142843968
|
0.00001
|
NM_015046.7(SETX):c.6351C>T (p.Ser2117=)
|
rs200269892
|
0.00001
|
NM_015046.7(SETX):c.6546+44G>A
|
rs373789634
|
0.00001
|
NM_015046.7(SETX):c.6897dup (p.Phe2300fs)
|
rs1331217337
|
0.00001
|
NM_015046.7(SETX):c.7005G>C (p.Lys2335Asn)
|
rs141657462
|
0.00001
|
NM_015046.7(SETX):c.7139G>A (p.Arg2380Gln)
|
rs145397619
|
0.00001
|
NM_015046.7(SETX):c.7413A>T (p.Arg2471Ser)
|
rs1382990384
|
0.00001
|
NM_015046.7(SETX):c.7417C>G (p.Leu2473Val)
|
rs760196991
|
0.00001
|
NM_015046.7(SETX):c.7427C>T (p.Pro2476Leu)
|
rs767515528
|
0.00001
|
NM_015046.7(SETX):c.7473C>T (p.Pro2491=)
|
rs1173009713
|
0.00001
|
NM_015046.7(SETX):c.7720G>A (p.Glu2574Lys)
|
rs145345675
|
0.00001
|
NM_015046.7(SETX):c.7737C>T (p.Val2579=)
|
rs780854409
|
0.00001
|
NM_015046.7(SETX):c.7814G>A (p.Arg2605Gln)
|
rs543247171
|
0.00001
|
NM_015046.7(SETX):c.7972A>G (p.Arg2658Gly)
|
rs779793402
|
0.00001
|
NM_015046.7(SETX):c.7995G>T (p.Glu2665Asp)
|
rs1085307585
|
0.00001
|
NM_015046.7(SETX):c.820A>G (p.Met274Val)
|
rs753713810
|
0.00001
|
NM_015046.7(SETX):c.832G>A (p.Ala278Thr)
|
rs369035418
|
0.00001
|
NM_015046.7(SETX):c.866C>T (p.Ala289Val)
|
rs1237541645
|
0.00001
|
NM_015046.7(SETX):c.967A>G (p.Ser323Gly)
|
rs758625845
|
0.00001
|
NM_015046.7(SETX):c.994C>T (p.Arg332Trp)
|
rs29001665
|
0.00001
|
NM_015046.7(SETX):c.998A>G (p.Asn333Ser)
|
rs538829833
|
0.00001
|
GRCh37/hg19 9q34.13(chr9:135209995-135210114)x1
|
|
|
NM_015046.6(SETX):c.6848_6851delCAGA
|
|
|
NM_015046.7(SETX):c.*1282C>T
|
rs1842469257
|
|
NM_015046.7(SETX):c.*200T>G
|
rs114940532
|
|
NM_015046.7(SETX):c.*2A>G
|
|
|
NM_015046.7(SETX):c.*430dup
|
rs1245820302
|
|
NM_015046.7(SETX):c.*431_*432del
|
rs112251805
|
|
NM_015046.7(SETX):c.-7-99A>C
|
rs115333638
|
|
NM_015046.7(SETX):c.-8+134dup
|
rs80205458
|
|
NM_015046.7(SETX):c.-8+135C>T
|
rs113077071
|
|
NM_015046.7(SETX):c.-8+143del
|
rs80205458
|
|
NM_015046.7(SETX):c.-8+8dup
|
rs66524976
|
|
NM_015046.7(SETX):c.1004C>G (p.Ser335Cys)
|
|
|
NM_015046.7(SETX):c.100G>A (p.Asp34Asn)
|
|
|
NM_015046.7(SETX):c.1099-142A>G
|
rs1536662
|
|
NM_015046.7(SETX):c.1166T>C (p.Leu389Ser)
|
rs29001584
|
|
NM_015046.7(SETX):c.1273G>T (p.Gly425Cys)
|
rs1428065074
|
|
NM_015046.7(SETX):c.1274G>C (p.Gly425Ala)
|
rs1199659912
|
|
NM_015046.7(SETX):c.1285A>G (p.Ile429Val)
|
rs747053403
|
|
NM_015046.7(SETX):c.1343A>C (p.Asp448Ala)
|
rs370363342
|
|
NM_015046.7(SETX):c.1358A>G (p.Lys453Arg)
|
rs886063559
|
|
NM_015046.7(SETX):c.1363A>G (p.Thr455Ala)
|
|
|
NM_015046.7(SETX):c.1427_1432del (p.His476_Leu477del)
|
rs777314512
|
|
NM_015046.7(SETX):c.1462G>A (p.Ala488Thr)
|
|
|
NM_015046.7(SETX):c.1508G>A (p.Ser503Asn)
|
rs1085307770
|
|
NM_015046.7(SETX):c.152G>A (p.Arg51Lys)
|
rs777256092
|
|
NM_015046.7(SETX):c.1658C>T (p.Ser553Phe)
|
rs1589747116
|
|
NM_015046.7(SETX):c.1724dup (p.Leu576fs)
|
|
|
NM_015046.7(SETX):c.177+125del
|
rs148250771
|
|
NM_015046.7(SETX):c.1771A>G (p.Ile591Val)
|
|
|
NM_015046.7(SETX):c.1776T>C (p.Ile592=)
|
|
|
NM_015046.7(SETX):c.1837A>C (p.Lys613Gln)
|
|
|
NM_015046.7(SETX):c.1919C>G (p.Ala640Gly)
|
|
|
NM_015046.7(SETX):c.2040G>A (p.Glu680=)
|
|
|
NM_015046.7(SETX):c.2094T>G (p.Thr698=)
|
rs2131455800
|
|
NM_015046.7(SETX):c.2143_2144del (p.Val715fs)
|
|
|
NM_015046.7(SETX):c.2180C>T (p.Thr727Ile)
|
|
|
NM_015046.7(SETX):c.2228C>G (p.Ser743Ter)
|
|
|
NM_015046.7(SETX):c.2267A>G (p.Glu756Gly)
|
|
|
NM_015046.7(SETX):c.2272G>A (p.Val758Met)
|
|
|
NM_015046.7(SETX):c.2332C>T (p.Arg778Ter)
|
rs747501465
|
|
NM_015046.7(SETX):c.2387_2390del (p.Lys796fs)
|
rs745775419
|
|
NM_015046.7(SETX):c.23C>T (p.Thr8Met)
|
rs1057520367
|
|
NM_015046.7(SETX):c.2405G>A (p.Ser802Asn)
|
rs1847058160
|
|
NM_015046.7(SETX):c.241A>G (p.Ile81Val)
|
|
|
NM_015046.7(SETX):c.243del (p.Ile81fs)
|
rs1455336434
|
|
NM_015046.7(SETX):c.2489_2491dup (p.Gly830dup)
|
rs2131452043
|
|
NM_015046.7(SETX):c.2591C>T (p.Pro864Leu)
|
|
|
NM_015046.7(SETX):c.2660A>G (p.Gln887Arg)
|
rs769138877
|
|
NM_015046.7(SETX):c.2669A>G (p.His890Arg)
|
rs2131450125
|
|
NM_015046.7(SETX):c.2698A>G (p.Thr900Ala)
|
rs1320466105
|
|
NM_015046.7(SETX):c.2699C>G (p.Thr900Arg)
|
|
|
NM_015046.7(SETX):c.2721GAA[1] (p.Lys909del)
|
|
|
NM_015046.7(SETX):c.2887C>T (p.His963Tyr)
|
|
|
NM_015046.7(SETX):c.2958G>C (p.Gln986His)
|
rs969060686
|
|
NM_015046.7(SETX):c.3040ATT[2] (p.Ile1016del)
|
rs765663814
|
|
NM_015046.7(SETX):c.3057TGA[4] (p.Asp1023_Asp1024del)
|
rs572772837
|
|
NM_015046.7(SETX):c.3057TGA[5] (p.Asp1024del)
|
rs572772837
|
|
NM_015046.7(SETX):c.3057TGA[7] (p.Asp1024dup)
|
rs572772837
|
|
NM_015046.7(SETX):c.32G>A (p.Gly11Asp)
|
rs886063560
|
|
NM_015046.7(SETX):c.3311A>C (p.Gln1104Pro)
|
rs777787438
|
|
NM_015046.7(SETX):c.3321G>A (p.Glu1107=)
|
rs376572656
|
|
NM_015046.7(SETX):c.3350C>T (p.Thr1117Ile)
|
rs1564541749
|
|
NM_015046.7(SETX):c.3428G>T (p.Arg1143Ile)
|
|
|
NM_015046.7(SETX):c.3497A>G (p.Glu1166Gly)
|
rs1554820858
|
|
NM_015046.7(SETX):c.3564TAA[1] (p.Asn1189del)
|
rs2131441680
|
|
NM_015046.7(SETX):c.3566A>G (p.Asn1189Ser)
|
|
|
NM_015046.7(SETX):c.3567T>G (p.Asn1189Lys)
|
|
|
NM_015046.7(SETX):c.3601A>T (p.Ile1201Phe)
|
rs1589740212
|
|
NM_015046.7(SETX):c.3607A>G (p.Arg1203Gly)
|
|
|
NM_015046.7(SETX):c.3641G>T (p.Arg1214Ile)
|
rs763375641
|
|
NM_015046.7(SETX):c.3651G>C (p.Thr1217=)
|
rs111419285
|
|
NM_015046.7(SETX):c.3651G>T (p.Thr1217=)
|
rs111419285
|
|
NM_015046.7(SETX):c.3661AAG[1] (p.Lys1222del)
|
rs1238089698
|
|
NM_015046.7(SETX):c.3683C>T (p.Thr1228Ile)
|
rs921853577
|
|
NM_015046.7(SETX):c.3706G>A (p.Val1236Ile)
|
|
|
NM_015046.7(SETX):c.370C>A (p.Leu124Ile)
|
rs1488062133
|
|
NM_015046.7(SETX):c.3724C>G (p.Pro1242Ala)
|
|
|
NM_015046.7(SETX):c.377A>C (p.His126Pro)
|
|
|
NM_015046.7(SETX):c.381A>C (p.Glu127Asp)
|
rs1296707786
|
|
NM_015046.7(SETX):c.388+251G>T
|
rs61338484
|
|
NM_015046.7(SETX):c.388+69A>C
|
rs57353091
|
|
NM_015046.7(SETX):c.388+6T>C
|
rs2131557145
|
|
NM_015046.7(SETX):c.3881G>A (p.Arg1294His)
|
|
|
NM_015046.7(SETX):c.389-243C>T
|
rs74311565
|
|
NM_015046.7(SETX):c.3890A>G (p.Tyr1297Cys)
|
|
|
NM_015046.7(SETX):c.3905G>T (p.Arg1302Leu)
|
|
|
NM_015046.7(SETX):c.3950T>C (p.Val1317Ala)
|
rs1564539968
|
|
NM_015046.7(SETX):c.3966C>A (p.Thr1322=)
|
rs772257618
|
|
NM_015046.7(SETX):c.3974A>G (p.Lys1325Arg)
|
|
|
NM_015046.7(SETX):c.4020_4022del (p.Lys1341del)
|
rs769558791
|
|
NM_015046.7(SETX):c.4048A>G (p.Met1350Val)
|
|
|
NM_015046.7(SETX):c.4076A>G (p.Gln1359Arg)
|
|
|
NM_015046.7(SETX):c.4088G>A (p.Arg1363Gln)
|
|
|
NM_015046.7(SETX):c.4103G>T (p.Cys1368Phe)
|
rs1445388214
|
|
NM_015046.7(SETX):c.4316T>C (p.Leu1439Ser)
|
rs1589737441
|
|
NM_015046.7(SETX):c.4336G>T (p.Val1446Leu)
|
rs1477696040
|
|
NM_015046.7(SETX):c.4517T>C (p.Met1506Thr)
|
rs199974622
|
|
NM_015046.7(SETX):c.4517T>G (p.Met1506Arg)
|
rs199974622
|
|
NM_015046.7(SETX):c.4600G>A (p.Asp1534Asn)
|
rs746807833
|
|
NM_015046.7(SETX):c.4600G>C (p.Asp1534His)
|
rs746807833
|
|
NM_015046.7(SETX):c.4630_4631del (p.Leu1544fs)
|
rs1356107030
|
|
NM_015046.7(SETX):c.4645T>G (p.Cys1549Gly)
|
rs1846829407
|
|
NM_015046.7(SETX):c.4662T>C (p.Cys1554=)
|
rs1589736164
|
|
NM_015046.7(SETX):c.4679A>G (p.Asn1560Ser)
|
rs2131430572
|
|
NM_015046.7(SETX):c.4698A>C (p.Pro1566=)
|
rs2131430376
|
|
NM_015046.7(SETX):c.4723G>C (p.Asp1575His)
|
rs781383567
|
|
NM_015046.7(SETX):c.4739G>A (p.Arg1580His)
|
|
|
NM_015046.7(SETX):c.4775_4776del (p.Pro1591_Leu1592insTer)
|
rs2131429676
|
|
NM_015046.7(SETX):c.4814C>T (p.Ser1605Leu)
|
rs2131429401
|
|
NM_015046.7(SETX):c.4816C>T (p.Arg1606Ter)
|
rs759213174
|
|
NM_015046.7(SETX):c.4870C>G (p.Leu1624Val)
|
|
|
NM_015046.7(SETX):c.4897_4899del (p.Ser1633del)
|
rs2131428433
|
|
NM_015046.7(SETX):c.4898C>T (p.Ser1633Leu)
|
rs1022473091
|
|
NM_015046.7(SETX):c.4924_4947del (p.Pro1642_Val1649del)
|
|
|
NM_015046.7(SETX):c.4936C>T (p.Gln1646Ter)
|
rs886041522
|
|
NM_015046.7(SETX):c.4964C>T (p.Ser1655Leu)
|
rs1189378413
|
|
NM_015046.7(SETX):c.49T>C (p.Phe17Leu)
|
|
|
NM_015046.7(SETX):c.5008C>T (p.Gln1670Ter)
|
rs762808367
|
|
NM_015046.7(SETX):c.5026T>C (p.Phe1676Leu)
|
|
|
NM_015046.7(SETX):c.5083C>T (p.Gln1695Ter)
|
rs1589734405
|
|
NM_015046.7(SETX):c.5100C>G (p.Thr1700=)
|
|
|
NM_015046.7(SETX):c.5118A>C (p.Leu1706Phe)
|
|
|
NM_015046.7(SETX):c.5130T>A (p.Tyr1710Ter)
|
rs768582274
|
|
NM_015046.7(SETX):c.5222dup (p.Asp1742fs)
|
rs730882209
|
|
NM_015046.7(SETX):c.5243dup (p.Leu1750fs)
|
rs754706851
|
|
NM_015046.7(SETX):c.5258T>C (p.Leu1753Ser)
|
|
|
NM_015046.7(SETX):c.5274+4_5274+7del
|
rs1846750267
|
|
NM_015046.7(SETX):c.5308_5311del (p.Glu1770fs)
|
rs750959420
|
|
NM_015046.7(SETX):c.5328A>C (p.Gln1776His)
|
rs1589702061
|
|
NM_015046.7(SETX):c.5342C>G (p.Pro1781Arg)
|
|
|
NM_015046.7(SETX):c.5375-18CTT[2]
|
rs201317659
|
|
NM_015046.7(SETX):c.5375-297_5375-286del
|
rs200657740
|
|
NM_015046.7(SETX):c.5375-307dup
|
rs200657740
|
|
NM_015046.7(SETX):c.5390G>A (p.Cys1797Tyr)
|
|
|
NM_015046.7(SETX):c.5400T>C (p.Ala1800=)
|
|
|
NM_015046.7(SETX):c.5428T>A (p.Leu1810Met)
|
rs1182222248
|
|
NM_015046.7(SETX):c.546C>T (p.Asp182=)
|
rs199748733
|
|
NM_015046.7(SETX):c.5543C>A (p.Ser1848Ter)
|
|
|
NM_015046.7(SETX):c.5547_5548+2del
|
rs1554813128
|
|
NM_015046.7(SETX):c.5549-5G>A
|
|
|
NM_015046.7(SETX):c.5645C>A (p.Ser1882Tyr)
|
|
|
NM_015046.7(SETX):c.5673del (p.Ala1892fs)
|
rs1844781818
|
|
NM_015046.7(SETX):c.5753del (p.Asp1918fs)
|
rs2131294861
|
|
NM_015046.7(SETX):c.5782-129_5782-125del
|
rs61398915
|
|
NM_015046.7(SETX):c.5833G>C (p.Ala1945Pro)
|
|
|
NM_015046.7(SETX):c.5858C>T (p.Pro1953Leu)
|
|
|
NM_015046.7(SETX):c.58C>T (p.Arg20Cys)
|
|
|
NM_015046.7(SETX):c.5938C>T (p.Leu1980=)
|
|
|
NM_015046.7(SETX):c.5954A>G (p.Gln1985Arg)
|
|
|
NM_015046.7(SETX):c.5956A>T (p.Arg1986Trp)
|
rs868436982
|
|
NM_015046.7(SETX):c.5976A>G (p.Glu1992=)
|
|
|
NM_015046.7(SETX):c.6083G>A (p.Cys2028Tyr)
|
|
|
NM_015046.7(SETX):c.6106+171_6106+182del
|
rs141484261
|
|
NM_015046.7(SETX):c.6106+3dup
|
|
|
NM_015046.7(SETX):c.6107-69T>G
|
rs2274563
|
|
NM_015046.7(SETX):c.6107-7T>A
|
rs766634428
|
|
NM_015046.7(SETX):c.6179G>C (p.Ser2060Thr)
|
|
|
NM_015046.7(SETX):c.6289C>T (p.Gln2097Ter)
|
rs901109960
|
|
NM_015046.7(SETX):c.6292C>T (p.Arg2098Ter)
|
rs770684782
|
|
NM_015046.7(SETX):c.6324+53dup
|
rs35545441
|
|
NM_015046.7(SETX):c.6325-211_6325-208del
|
rs113847801
|
|
NM_015046.7(SETX):c.6388del (p.Ile2130fs)
|
|
|
NM_015046.7(SETX):c.6396+221_6396+222dup
|
rs58043008
|
|
NM_015046.7(SETX):c.6396+221dup
|
rs58043008
|
|
NM_015046.7(SETX):c.6396+241del
|
rs58043008
|
|
NM_015046.7(SETX):c.6396+43del
|
rs201395158
|
|
NM_015046.7(SETX):c.6406C>T (p.Arg2136Cys)
|
rs1554807765
|
|
NM_015046.7(SETX):c.6464T>G (p.Leu2155Trp)
|
rs1473613373
|
|
NM_015046.7(SETX):c.6486A>G (p.Leu2162=)
|
|
|
NM_015046.7(SETX):c.6536T>C (p.Ile2179Thr)
|
rs1366270093
|
|
NM_015046.7(SETX):c.6546+5G>C
|
rs1564485095
|
|
NM_015046.7(SETX):c.6546+92dup
|
rs371692040
|
|
NM_015046.7(SETX):c.6578C>T (p.Thr2193Ile)
|
rs781013515
|
|
NM_015046.7(SETX):c.6654+1G>A
|
rs1554806979
|
|
NM_015046.7(SETX):c.6683C>T (p.Ser2228Leu)
|
rs764541704
|
|
NM_015046.7(SETX):c.668T>A (p.Leu223His)
|
rs1211053963
|
|
NM_015046.7(SETX):c.6729_6730del (p.His2243fs)
|
rs752122764
|
|
NM_015046.7(SETX):c.6778A>T (p.Met2260Leu)
|
rs768334505
|
|
NM_015046.7(SETX):c.6803C>T (p.Pro2268Leu)
|
|
|
NM_015046.7(SETX):c.6838_6841del (p.Asn2280fs)
|
rs1439109327
|
|
NM_015046.7(SETX):c.6842+252_6842+254del
|
rs10615907
|
|
NM_015046.7(SETX):c.6842+3G>A
|
|
|
NM_015046.7(SETX):c.6843-16dup
|
rs34769225
|
|
NM_015046.7(SETX):c.6843-5del
|
rs34769225
|
|
NM_015046.7(SETX):c.6843-6_6843-5dup
|
rs34769225
|
|
NM_015046.7(SETX):c.6844C>G (p.Gln2282Glu)
|
|
|
NM_015046.7(SETX):c.6850_6851dup (p.Ala2285fs)
|
rs748700245
|
|
NM_015046.7(SETX):c.6928G>A (p.Asp2310Asn)
|
|
|
NM_015046.7(SETX):c.6976A>G (p.Ile2326Val)
|
rs751216566
|
|
NM_015046.7(SETX):c.7042dup (p.Tyr2348fs)
|
rs1057519213
|
|
NM_015046.7(SETX):c.7079A>G (p.Asp2360Gly)
|
|
|
NM_015046.7(SETX):c.7100+7C>T
|
|
|
NM_015046.7(SETX):c.7101-245A>G
|
rs149862021
|
|
NM_015046.7(SETX):c.7101-92_7101-91dup
|
rs375899109
|
|
NM_015046.7(SETX):c.7121_7122del (p.Val2374fs)
|
rs765371601
|
|
NM_015046.7(SETX):c.7157T>C (p.Ile2386Thr)
|
rs201887051
|
|
NM_015046.7(SETX):c.7163C>G (p.Thr2388Arg)
|
rs765418950
|
|
NM_015046.7(SETX):c.718+151T>G
|
rs7036889
|
|
NM_015046.7(SETX):c.718+3G>C
|
rs2131504173
|
|
NM_015046.7(SETX):c.718+72_718+73del
|
rs10573812
|
|
NM_015046.7(SETX):c.719-315_719-314dup
|
rs58780019
|
|
NM_015046.7(SETX):c.719-315dup
|
rs58780019
|
|
NM_015046.7(SETX):c.7199+23_7199+48dup
|
rs367693125
|
|
NM_015046.7(SETX):c.7199+60C>T
|
rs78827183
|
|
NM_015046.7(SETX):c.7288-197dup
|
rs76034156
|
|
NM_015046.7(SETX):c.7288-239_7288-238del
|
rs1491198305
|
|
NM_015046.7(SETX):c.7288-240del
|
rs397741391
|
|
NM_015046.7(SETX):c.7288-259_7288-256dup
|
rs397741391
|
|
NM_015046.7(SETX):c.7288-259_7288-257dup
|
rs397741391
|
|
NM_015046.7(SETX):c.7288-259_7288-258dup
|
rs397741391
|
|
NM_015046.7(SETX):c.7288-259dup
|
rs397741391
|
|
NM_015046.7(SETX):c.7288-2A>G
|
rs1554801819
|
|
NM_015046.7(SETX):c.7317G>C (p.Gln2439His)
|
rs1842567381
|
|
NM_015046.7(SETX):c.7361A>C (p.Asn2454Thr)
|
|
|
NM_015046.7(SETX):c.7399C>G (p.Pro2467Ala)
|
rs2131114875
|
|
NM_015046.7(SETX):c.7432A>C (p.Thr2478Pro)
|
rs142303658
|
|
NM_015046.7(SETX):c.7439C>A (p.Ala2480Asp)
|
|
|
NM_015046.7(SETX):c.7448G>A (p.Gly2483Glu)
|
|
|
NM_015046.7(SETX):c.7488C>G (p.Asp2496Glu)
|
|
|
NM_015046.7(SETX):c.7516G>A (p.Ala2506Thr)
|
rs1160553456
|
|
NM_015046.7(SETX):c.7520C>G (p.Ser2507Cys)
|
rs1373360956
|
|
NM_015046.7(SETX):c.7568C>T (p.Thr2523Ile)
|
|
|
NM_015046.7(SETX):c.7588C>T (p.Pro2530Ser)
|
|
|
NM_015046.7(SETX):c.7612G>C (p.Asp2538His)
|
|
|
NM_015046.7(SETX):c.7628A>T (p.Lys2543Met)
|
|
|
NM_015046.7(SETX):c.7657A>G (p.Ile2553Val)
|
rs546828646
|
|
NM_015046.7(SETX):c.7660T>C (p.Phe2554Leu)
|
rs368269464
|
|
NM_015046.7(SETX):c.768G>C (p.Leu256=)
|
|
|
NM_015046.7(SETX):c.7708CCT[1] (p.Pro2571del)
|
rs770590408
|
|
NM_015046.7(SETX):c.7719C>T (p.Gly2573=)
|
|
|
NM_015046.7(SETX):c.7725G>A (p.Pro2575=)
|
rs201695580
|
|
NM_015046.7(SETX):c.7735G>A (p.Val2579Ile)
|
rs144121978
|
|
NM_015046.7(SETX):c.7735G>T (p.Val2579Phe)
|
rs144121978
|
|
NM_015046.7(SETX):c.7770C>A (p.Pro2590=)
|
|
|
NM_015046.7(SETX):c.7770C>G (p.Pro2590=)
|
|
|
NM_015046.7(SETX):c.7770_7771insCTACAGCAGCGG (p.Pro2590_Ala2591insLeuGlnGlnArg)
|
|
|
NM_015046.7(SETX):c.7775C>T (p.Ala2592Val)
|
rs1842534708
|
|
NM_015046.7(SETX):c.7819G>A (p.Glu2607Lys)
|
|
|
NM_015046.7(SETX):c.7820A>G (p.Glu2607Gly)
|
rs1554801389
|
|
NM_015046.7(SETX):c.7840G>A (p.Glu2614Lys)
|
|
|
NM_015046.7(SETX):c.7856A>G (p.Gln2619Arg)
|
rs1421049695
|
|
NM_015046.7(SETX):c.785A>G (p.Lys262Arg)
|
rs770255148
|
|
NM_015046.7(SETX):c.7875G>A (p.Pro2625=)
|
rs536241867
|
|
NM_015046.7(SETX):c.7928A>G (p.Gln2643Arg)
|
rs1842518697
|
|
NM_015046.7(SETX):c.7985G>A (p.Arg2662Lys)
|
rs2131109746
|
|
NM_015046.7(SETX):c.838+333C>T
|
rs79117874
|
|
NM_015046.7(SETX):c.838+4A>G
|
rs1847472277
|
|
NM_015046.7(SETX):c.839-225del
|
rs200362840
|
|
NM_015046.7(SETX):c.839-239dup
|
rs200362840
|
|
NM_015046.7(SETX):c.847G>A (p.Val283Met)
|
|
|
NM_015046.7(SETX):c.8C>T (p.Thr3Ile)
|
rs28941475
|
|
NM_015046.7(SETX):c.973A>G (p.Asn325Asp)
|
|
|
NM_015046.7(SETX):c.983T>C (p.Ile328Thr)
|
rs2131468034
|
|
NM_015046.7(SETX):c.998A>C (p.Asn333Thr)
|
rs538829833
|
|