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_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.5563A>G (p.Thr1855Ala)
|
rs2296871
|
0.31596
|
NM_015046.7(SETX):c.5811T>C (p.Asp1937=)
|
rs2296869
|
0.31585
|
NM_015046.7(SETX):c.5374+16C>T
|
rs2296872
|
0.24325
|
NM_015046.7(SETX):c.5781+12dup
|
rs3831154
|
0.24271
|
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.7100+27A>G
|
rs2296865
|
0.16223
|
NM_015046.7(SETX):c.1979C>G (p.Ala660Gly)
|
rs882709
|
0.12168
|
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.6546+32T>A
|
rs2296873
|
0.07069
|
NM_015046.7(SETX):c.*1365G>T
|
rs7875801
|
0.06684
|
NM_015046.7(SETX):c.498+30T>C
|
rs11790312
|
0.05653
|
NM_015046.7(SETX):c.3455T>G (p.Phe1152Cys)
|
rs3739922
|
0.04708
|
NM_015046.7(SETX):c.*717T>C
|
rs17148857
|
0.04316
|
NM_015046.7(SETX):c.*1700G>T
|
rs75682594
|
0.03993
|
NM_015046.7(SETX):c.*561A>C
|
rs73661150
|
0.02138
|
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.6106+14G>A
|
rs73661157
|
0.01840
|
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_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.*319C>T
|
rs1056912
|
0.00570
|
NM_015046.7(SETX):c.5275-43T>C
|
rs144258500
|
0.00547
|
NM_015046.7(SETX):c.-107C>T
|
rs190832998
|
0.00516
|
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.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_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.2113A>C (p.Ile705Leu)
|
rs34781846
|
0.00272
|
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_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.*2506T>C
|
rs73545065
|
0.00164
|
NM_015046.7(SETX):c.*905A>G
|
rs58327306
|
0.00164
|
NM_015046.7(SETX):c.5781+10G>A
|
rs537414669
|
0.00159
|
NM_015046.7(SETX):c.*1800C>T
|
rs147200829
|
0.00144
|
NM_015046.7(SETX):c.5548+19A>G
|
rs201294921
|
0.00141
|
NM_015046.7(SETX):c.7101A>G (p.Gly2367=)
|
rs79233884
|
0.00141
|
NM_015046.7(SETX):c.-70T>C
|
rs72765839
|
0.00131
|
NM_015046.7(SETX):c.6936-11A>G
|
rs146193654
|
0.00129
|
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.*1803G>A
|
rs556145432
|
0.00046
|
NM_015046.7(SETX):c.*1454C>G
|
rs561712582
|
0.00041
|
NM_015046.7(SETX):c.263A>G (p.Tyr88Cys)
|
rs149276791
|
0.00041
|
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.4916A>C (p.Gln1639Pro)
|
rs150918808
|
0.00039
|
NM_015046.7(SETX):c.654G>C (p.Lys218Asn)
|
rs117861188
|
0.00039
|
NM_015046.7(SETX):c.638C>T (p.Ser213Phe)
|
rs1254442456
|
0.00038
|
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.*1688A>G
|
rs773351268
|
0.00027
|
NM_015046.7(SETX):c.2446A>G (p.Thr816Ala)
|
rs369470593
|
0.00026
|
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.*891T>C
|
rs573743210
|
0.00025
|
NM_015046.7(SETX):c.6208+17G>A
|
rs182144319
|
0.00025
|
NM_015046.7(SETX):c.5294A>G (p.Asn1765Ser)
|
rs373085593
|
0.00024
|
NM_015046.7(SETX):c.5346C>T (p.Ala1782=)
|
rs115071007
|
0.00024
|
NM_015046.7(SETX):c.*2384T>A
|
rs570456500
|
0.00022
|
NM_015046.7(SETX):c.4520A>C (p.Asp1507Ala)
|
rs138195434
|
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.1392A>G (p.Ser464=)
|
rs144164119
|
0.00021
|
NM_015046.7(SETX):c.900T>C (p.Leu300=)
|
rs147938250
|
0.00021
|
NM_015046.7(SETX):c.4273A>G (p.Lys1425Glu)
|
rs534886444
|
0.00020
|
NM_015046.7(SETX):c.*2065dup
|
rs886063546
|
0.00019
|
NM_015046.7(SETX):c.1464C>T (p.Ala488=)
|
rs139275155
|
0.00019
|
NM_015046.7(SETX):c.3297T>C (p.Asp1099=)
|
rs777404209
|
0.00019
|
NM_015046.7(SETX):c.7787C>T (p.Ala2596Val)
|
rs200507089
|
0.00019
|
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.498+14T>C
|
rs753336459
|
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.7288-19C>T
|
rs368143983
|
0.00015
|
NM_015046.7(SETX):c.390C>T (p.Asn130=)
|
rs138363625
|
0.00014
|
NM_015046.7(SETX):c.3555G>A (p.Gln1185=)
|
rs762171056
|
0.00013
|
NM_015046.7(SETX):c.3992C>T (p.Pro1331Leu)
|
rs11243731
|
0.00013
|
NM_015046.7(SETX):c.7490G>A (p.Ser2497Asn)
|
rs61735488
|
0.00013
|
NM_015046.7(SETX):c.7738G>A (p.Val2580Ile)
|
rs370366576
|
0.00013
|
NM_015046.7(SETX):c.*2016G>A
|
rs752950104
|
0.00012
|
NM_015046.7(SETX):c.3505A>G (p.Met1169Val)
|
rs573849874
|
0.00012
|
NM_015046.7(SETX):c.4511A>G (p.Glu1504Gly)
|
rs781275166
|
0.00012
|
NM_015046.7(SETX):c.5051C>G (p.Ser1684Cys)
|
rs140116005
|
0.00012
|
NM_015046.7(SETX):c.7990C>T (p.Leu2664=)
|
rs200826214
|
0.00012
|
NM_015046.7(SETX):c.3090T>C (p.Leu1030=)
|
rs368677513
|
0.00011
|
NM_015046.7(SETX):c.5012G>A (p.Gly1671Asp)
|
rs775112319
|
0.00011
|
NM_015046.7(SETX):c.5941C>T (p.Leu1981=)
|
rs373324070
|
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.3650C>T (p.Thr1217Met)
|
rs140892948
|
0.00010
|
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_015046.7(SETX):c.7926G>A (p.Glu2642=)
|
rs147986724
|
0.00010
|
NM_015046.7(SETX):c.1065C>T (p.Ile355=)
|
rs376107422
|
0.00009
|
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.4677A>G (p.Lys1559=)
|
rs200123129
|
0.00009
|
NM_015046.7(SETX):c.4866G>A (p.Pro1622=)
|
rs779472573
|
0.00009
|
NM_015046.7(SETX):c.5852A>G (p.His1951Arg)
|
rs146593865
|
0.00009
|
NM_015046.7(SETX):c.7770C>T (p.Pro2590=)
|
rs532828022
|
0.00009
|
NM_015046.7(SETX):c.78G>A (p.Pro26=)
|
rs139972421
|
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.2865T>C (p.Asp955=)
|
rs368932478
|
0.00008
|
NM_015046.7(SETX):c.3103A>G (p.Lys1035Glu)
|
rs117229601
|
0.00008
|
NM_015046.7(SETX):c.3640A>G (p.Arg1214Gly)
|
rs371687197
|
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.2469C>G (p.Phe823Leu)
|
rs141163823
|
0.00007
|
NM_015046.7(SETX):c.3023C>G (p.Thr1008Ser)
|
rs372021275
|
0.00007
|
NM_015046.7(SETX):c.4204A>T (p.Thr1402Ser)
|
rs150421712
|
0.00007
|
NM_015046.7(SETX):c.4353A>G (p.Val1451=)
|
rs771367273
|
0.00007
|
NM_015046.7(SETX):c.5536C>T (p.Arg1846Cys)
|
rs551406712
|
0.00007
|
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.1227A>G (p.Leu409=)
|
rs769913556
|
0.00006
|
NM_015046.7(SETX):c.1497G>A (p.Ala499=)
|
rs142936332
|
0.00006
|
NM_015046.7(SETX):c.1690T>G (p.Leu564Val)
|
rs761877146
|
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.2688G>T (p.Leu896Phe)
|
rs370551247
|
0.00006
|
NM_015046.7(SETX):c.2717C>T (p.Ser906Leu)
|
rs148375192
|
0.00006
|
NM_015046.7(SETX):c.2994C>T (p.Phe998=)
|
rs534579992
|
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.3815A>G (p.Lys1272Arg)
|
rs202204341
|
0.00006
|
NM_015046.7(SETX):c.4136A>G (p.His1379Arg)
|
rs181158146
|
0.00006
|
NM_015046.7(SETX):c.5274+8T>C
|
rs369501754
|
0.00006
|
NM_015046.7(SETX):c.5537G>A (p.Arg1846His)
|
rs373571937
|
0.00006
|
NM_015046.7(SETX):c.5616C>T (p.Asn1872=)
|
rs201472554
|
0.00006
|
NM_015046.7(SETX):c.5712A>G (p.Arg1904=)
|
rs750372437
|
0.00006
|
NM_015046.7(SETX):c.5853C>G (p.His1951Gln)
|
rs928020122
|
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.6675C>T (p.Tyr2225=)
|
rs200382898
|
0.00006
|
NM_015046.7(SETX):c.7439C>T (p.Ala2480Val)
|
rs376524608
|
0.00006
|
NM_015046.7(SETX):c.7597C>T (p.His2533Tyr)
|
rs202121071
|
0.00006
|
NM_015046.7(SETX):c.7660T>A (p.Phe2554Ile)
|
rs368269464
|
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_015046.7(SETX):c.93A>G (p.Gln31=)
|
rs201795631
|
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.4051C>G (p.Gln1351Glu)
|
rs375241191
|
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.5104G>A (p.Val1702Ile)
|
rs61745659
|
0.00005
|
NM_015046.7(SETX):c.7164G>C (p.Thr2388=)
|
rs368602563
|
0.00005
|
NM_015046.7(SETX):c.718+14C>A
|
rs762900574
|
0.00005
|
NM_015046.7(SETX):c.7406T>C (p.Leu2469Pro)
|
rs151304085
|
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.1140T>G (p.Pro380=)
|
rs140553290
|
0.00004
|
NM_015046.7(SETX):c.1416A>T (p.Lys472Asn)
|
rs886063558
|
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.2234G>A (p.Arg745His)
|
rs373933140
|
0.00004
|
NM_015046.7(SETX):c.2261C>G (p.Ala754Gly)
|
rs764538703
|
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.3341T>C (p.Ile1114Thr)
|
rs760535401
|
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.3793A>G (p.Thr1265Ala)
|
rs956812554
|
0.00004
|
NM_015046.7(SETX):c.3810G>A (p.Pro1270=)
|
rs753022992
|
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.4323G>A (p.Gln1441=)
|
rs180992608
|
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.5814A>G (p.Gln1938=)
|
rs143868969
|
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.6546+10C>T
|
rs571194790
|
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.77C>T (p.Pro26Leu)
|
rs377617692
|
0.00004
|
NM_015046.7(SETX):c.7809C>T (p.Pro2603=)
|
rs766063614
|
0.00004
|
NM_015046.7(SETX):c.839-6T>C
|
rs760584527
|
0.00004
|
NM_015046.7(SETX):c.986G>A (p.Arg329Gln)
|
rs376077293
|
0.00004
|
NM_015046.7(SETX):c.9A>G (p.Thr3=)
|
rs139681694
|
0.00004
|
NM_015046.7(SETX):c.1099-7A>G
|
rs764675117
|
0.00003
|
NM_015046.7(SETX):c.1343A>G (p.Asp448Gly)
|
rs370363342
|
0.00003
|
NM_015046.7(SETX):c.1791C>G (p.Phe597Leu)
|
rs1338284039
|
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.2404A>G (p.Ser802Gly)
|
rs1400027699
|
0.00003
|
NM_015046.7(SETX):c.2411T>C (p.Leu804Ser)
|
rs201096140
|
0.00003
|
NM_015046.7(SETX):c.267A>G (p.Ile89Met)
|
rs767232097
|
0.00003
|
NM_015046.7(SETX):c.2730A>C (p.Ser910=)
|
rs764898504
|
0.00003
|
NM_015046.7(SETX):c.2755G>C (p.Val919Leu)
|
rs561190371
|
0.00003
|
NM_015046.7(SETX):c.2924C>T (p.Thr975Met)
|
rs200722368
|
0.00003
|
NM_015046.7(SETX):c.2954C>T (p.Ser985Leu)
|
rs557074957
|
0.00003
|
NM_015046.7(SETX):c.3117A>G (p.Ile1039Met)
|
rs886063555
|
0.00003
|
NM_015046.7(SETX):c.3260C>T (p.Ser1087Phe)
|
rs139559547
|
0.00003
|
NM_015046.7(SETX):c.3298A>G (p.Asn1100Asp)
|
rs1230355404
|
0.00003
|
NM_015046.7(SETX):c.389-16A>G
|
rs200380642
|
0.00003
|
NM_015046.7(SETX):c.396A>G (p.Leu132=)
|
rs375232867
|
0.00003
|
NM_015046.7(SETX):c.4291C>G (p.Pro1431Ala)
|
rs371541705
|
0.00003
|
NM_015046.7(SETX):c.4338G>A (p.Val1446=)
|
rs777058489
|
0.00003
|
NM_015046.7(SETX):c.4390C>T (p.Pro1464Ser)
|
rs756080695
|
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.503G>A (p.Arg168Gln)
|
rs772017103
|
0.00003
|
NM_015046.7(SETX):c.5071C>A (p.Leu1691Ile)
|
rs756770572
|
0.00003
|
NM_015046.7(SETX):c.5130T>C (p.Tyr1710=)
|
rs768582274
|
0.00003
|
NM_015046.7(SETX):c.5361C>T (p.Tyr1787=)
|
rs777886975
|
0.00003
|
NM_015046.7(SETX):c.5591A>C (p.Gln1864Pro)
|
rs375747001
|
0.00003
|
NM_015046.7(SETX):c.5767A>G (p.Thr1923Ala)
|
rs372993859
|
0.00003
|
NM_015046.7(SETX):c.5781+9T>C
|
rs772671321
|
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.6276T>C (p.Asp2092=)
|
rs759395503
|
0.00003
|
NM_015046.7(SETX):c.6396+16G>A
|
rs369168525
|
0.00003
|
NM_015046.7(SETX):c.6396+8G>C
|
rs752365500
|
0.00003
|
NM_015046.7(SETX):c.6453C>T (p.Ile2151=)
|
rs150599672
|
0.00003
|
NM_015046.7(SETX):c.6762C>T (p.Leu2254=)
|
rs1225106822
|
0.00003
|
NM_015046.7(SETX):c.6829T>C (p.Leu2277=)
|
rs189444354
|
0.00003
|
NM_015046.7(SETX):c.6843-5T>A
|
rs943904959
|
0.00003
|
NM_015046.7(SETX):c.6925C>T (p.Arg2309Trp)
|
rs1490101518
|
0.00003
|
NM_015046.7(SETX):c.710A>G (p.Tyr237Cys)
|
rs138538492
|
0.00003
|
NM_015046.7(SETX):c.7818C>T (p.Gly2606=)
|
rs764270386
|
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_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.1099-12C>A
|
rs752063617
|
0.00002
|
NM_015046.7(SETX):c.1467C>T (p.Val489=)
|
rs142093830
|
0.00002
|
NM_015046.7(SETX):c.1492A>G (p.Thr498Ala)
|
rs779544809
|
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.2338A>G (p.Thr780Ala)
|
rs1481664998
|
0.00002
|
NM_015046.7(SETX):c.2395C>T (p.His799Tyr)
|
rs200459144
|
0.00002
|
NM_015046.7(SETX):c.2425A>G (p.Ile809Val)
|
rs906452681
|
0.00002
|
NM_015046.7(SETX):c.2439A>C (p.Glu813Asp)
|
rs190841601
|
0.00002
|
NM_015046.7(SETX):c.2842C>A (p.Pro948Thr)
|
rs778882347
|
0.00002
|
NM_015046.7(SETX):c.2921T>C (p.Ile974Thr)
|
rs765768857
|
0.00002
|
NM_015046.7(SETX):c.3200C>T (p.Thr1067Ile)
|
rs374091487
|
0.00002
|
NM_015046.7(SETX):c.343C>G (p.Leu115Val)
|
rs538372427
|
0.00002
|
NM_015046.7(SETX):c.3450A>G (p.Glu1150=)
|
rs771495291
|
0.00002
|
NM_015046.7(SETX):c.3605A>G (p.Asp1202Gly)
|
rs138167195
|
0.00002
|
NM_015046.7(SETX):c.3770C>T (p.Ser1257Leu)
|
rs773081186
|
0.00002
|
NM_015046.7(SETX):c.3880C>T (p.Arg1294Cys)
|
rs267607044
|
0.00002
|
NM_015046.7(SETX):c.3955G>A (p.Val1319Ile)
|
rs771168824
|
0.00002
|
NM_015046.7(SETX):c.4113A>G (p.Thr1371=)
|
rs750697305
|
0.00002
|
NM_015046.7(SETX):c.4180T>C (p.Ser1394Pro)
|
rs780078856
|
0.00002
|
NM_015046.7(SETX):c.4334T>C (p.Val1445Ala)
|
rs759653127
|
0.00002
|
NM_015046.7(SETX):c.4369A>G (p.Ile1457Val)
|
rs747804357
|
0.00002
|
NM_015046.7(SETX):c.4480G>T (p.Asp1494Tyr)
|
rs202047872
|
0.00002
|
NM_015046.7(SETX):c.4672A>G (p.Thr1558Ala)
|
rs764920626
|
0.00002
|
NM_015046.7(SETX):c.4683G>C (p.Gln1561His)
|
rs772991134
|
0.00002
|
NM_015046.7(SETX):c.477T>A (p.Phe159Leu)
|
rs1473646250
|
0.00002
|
NM_015046.7(SETX):c.4853C>G (p.Ser1618Ter)
|
rs553512431
|
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.5502C>T (p.His1834=)
|
rs117410554
|
0.00002
|
NM_015046.7(SETX):c.5509C>T (p.His1837Tyr)
|
rs749395151
|
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.5859A>G (p.Pro1953=)
|
rs1423165535
|
0.00002
|
NM_015046.7(SETX):c.6356T>C (p.Val2119Ala)
|
rs781741533
|
0.00002
|
NM_015046.7(SETX):c.6668A>G (p.Tyr2223Cys)
|
rs747913385
|
0.00002
|
NM_015046.7(SETX):c.7089C>T (p.Phe2363=)
|
rs141497098
|
0.00002
|
NM_015046.7(SETX):c.7330C>T (p.Arg2444Cys)
|
rs372535542
|
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.867G>A (p.Ala289=)
|
rs769799706
|
0.00002
|
NM_015046.7(SETX):c.895C>T (p.Arg299Cys)
|
rs777182592
|
0.00002
|
NM_015046.7(SETX):c.963C>T (p.Asn321=)
|
rs750254836
|
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.1012A>G (p.Thr338Ala)
|
rs999767103
|
0.00001
|
NM_015046.7(SETX):c.1086A>C (p.Glu362Asp)
|
rs768198537
|
0.00001
|
NM_015046.7(SETX):c.1114A>C (p.Thr372Pro)
|
rs145145045
|
0.00001
|
NM_015046.7(SETX):c.1204C>T (p.Arg402Cys)
|
rs772044862
|
0.00001
|
NM_015046.7(SETX):c.1288G>A (p.Ala430Thr)
|
rs778488721
|
0.00001
|
NM_015046.7(SETX):c.1438G>T (p.Val480Leu)
|
rs377301250
|
0.00001
|
NM_015046.7(SETX):c.1479C>T (p.Ala493=)
|
rs771289068
|
0.00001
|
NM_015046.7(SETX):c.1505G>A (p.Arg502Gln)
|
rs750044197
|
0.00001
|
NM_015046.7(SETX):c.1561C>T (p.Leu521=)
|
rs148638979
|
0.00001
|
NM_015046.7(SETX):c.1670G>A (p.Arg557Gln)
|
rs548433078
|
0.00001
|
NM_015046.7(SETX):c.167T>C (p.Phe56Ser)
|
rs1032816797
|
0.00001
|
NM_015046.7(SETX):c.1714C>G (p.Leu572Val)
|
rs1482836809
|
0.00001
|
NM_015046.7(SETX):c.172C>T (p.His58Tyr)
|
rs757760067
|
0.00001
|
NM_015046.7(SETX):c.177+18G>A
|
rs201574662
|
0.00001
|
NM_015046.7(SETX):c.1810A>G (p.Thr604Ala)
|
rs957434595
|
0.00001
|
NM_015046.7(SETX):c.1833A>G (p.Ala611=)
|
rs751829537
|
0.00001
|
NM_015046.7(SETX):c.1864G>A (p.Glu622Lys)
|
rs773035724
|
0.00001
|
NM_015046.7(SETX):c.1889C>T (p.Thr630Met)
|
rs749132753
|
0.00001
|
NM_015046.7(SETX):c.1951A>G (p.Lys651Glu)
|
rs1015257691
|
0.00001
|
NM_015046.7(SETX):c.1989_1994del (p.Ile664_Glu665del)
|
rs773195802
|
0.00001
|
NM_015046.7(SETX):c.2003A>G (p.Asn668Ser)
|
rs780898043
|
0.00001
|
NM_015046.7(SETX):c.2005A>T (p.Asn669Tyr)
|
rs143727702
|
0.00001
|
NM_015046.7(SETX):c.202C>T (p.Arg68Cys)
|
rs771481623
|
0.00001
|
NM_015046.7(SETX):c.208A>G (p.Ile70Val)
|
rs747469176
|
0.00001
|
NM_015046.7(SETX):c.2116A>G (p.Lys706Glu)
|
rs776432277
|
0.00001
|
NM_015046.7(SETX):c.2119A>G (p.Ile707Val)
|
rs1419145387
|
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.2295C>A (p.Phe765Leu)
|
rs771954896
|
0.00001
|
NM_015046.7(SETX):c.2427C>G (p.Ile809Met)
|
rs765654690
|
0.00001
|
NM_015046.7(SETX):c.245G>A (p.Gly82Glu)
|
rs201864041
|
0.00001
|
NM_015046.7(SETX):c.2552A>T (p.Asp851Val)
|
rs375242350
|
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.2749A>C (p.Met917Leu)
|
rs761943404
|
0.00001
|
NM_015046.7(SETX):c.2779A>G (p.Met927Val)
|
rs886063556
|
0.00001
|
NM_015046.7(SETX):c.2788A>G (p.Ser930Gly)
|
rs770694223
|
0.00001
|
NM_015046.7(SETX):c.27A>G (p.Pro9=)
|
rs761487448
|
0.00001
|
NM_015046.7(SETX):c.2854A>G (p.Thr952Ala)
|
rs1375463032
|
0.00001
|
NM_015046.7(SETX):c.2914A>G (p.Ser972Gly)
|
rs1354775471
|
0.00001
|
NM_015046.7(SETX):c.2934C>T (p.Ser978=)
|
rs144154512
|
0.00001
|
NM_015046.7(SETX):c.2985A>C (p.Lys995Asn)
|
rs1285317289
|
0.00001
|
NM_015046.7(SETX):c.3018A>C (p.Gly1006=)
|
rs997364371
|
0.00001
|
NM_015046.7(SETX):c.301A>G (p.Ile101Val)
|
rs376848704
|
0.00001
|
NM_015046.7(SETX):c.3028C>T (p.Arg1010Cys)
|
rs766799023
|
0.00001
|
NM_015046.7(SETX):c.3037G>A (p.Val1013Ile)
|
rs773068299
|
0.00001
|
NM_015046.7(SETX):c.3040A>G (p.Ile1014Val)
|
rs761243379
|
0.00001
|
NM_015046.7(SETX):c.3047T>C (p.Ile1016Thr)
|
rs200856903
|
0.00001
|
NM_015046.7(SETX):c.304A>G (p.Thr102Ala)
|
rs770962447
|
0.00001
|
NM_015046.7(SETX):c.3096A>T (p.Lys1032Asn)
|
rs1846998334
|
0.00001
|
NM_015046.7(SETX):c.3099C>T (p.Leu1033=)
|
rs755461440
|
0.00001
|
NM_015046.7(SETX):c.3221A>G (p.Glu1074Gly)
|
rs752140967
|
0.00001
|
NM_015046.7(SETX):c.3294C>T (p.Asp1098=)
|
rs61732723
|
0.00001
|
NM_015046.7(SETX):c.3299A>C (p.Asn1100Thr)
|
rs545072717
|
0.00001
|
NM_015046.7(SETX):c.3332T>G (p.Leu1111Trp)
|
rs1564541841
|
0.00001
|
NM_015046.7(SETX):c.3351T>C (p.Thr1117=)
|
rs1846972454
|
0.00001
|
NM_015046.7(SETX):c.3355A>G (p.Asn1119Asp)
|
rs200072123
|
0.00001
|
NM_015046.7(SETX):c.3385G>A (p.Glu1129Lys)
|
rs778505279
|
0.00001
|
NM_015046.7(SETX):c.3410G>A (p.Gly1137Asp)
|
rs62576475
|
0.00001
|
NM_015046.7(SETX):c.3433C>T (p.Arg1145Trp)
|
rs375796832
|
0.00001
|
NM_015046.7(SETX):c.3462A>C (p.Glu1154Asp)
|
rs1297541939
|
0.00001
|
NM_015046.7(SETX):c.3525G>A (p.Arg1175=)
|
rs1353053473
|
0.00001
|
NM_015046.7(SETX):c.3602T>C (p.Ile1201Thr)
|
rs750443804
|
0.00001
|
NM_015046.7(SETX):c.3603T>C (p.Ile1201=)
|
rs565774066
|
0.00001
|
NM_015046.7(SETX):c.3680G>T (p.Cys1227Phe)
|
rs750526955
|
0.00001
|
NM_015046.7(SETX):c.36T>C (p.Ala12=)
|
rs1198947358
|
0.00001
|
NM_015046.7(SETX):c.3723C>A (p.Thr1241=)
|
rs367828971
|
0.00001
|
NM_015046.7(SETX):c.372T>G (p.Leu124=)
|
rs1263479038
|
0.00001
|
NM_015046.7(SETX):c.3780A>G (p.Leu1260=)
|
rs375854407
|
0.00001
|
NM_015046.7(SETX):c.3802A>G (p.Ile1268Val)
|
rs764516725
|
0.00001
|
NM_015046.7(SETX):c.3813A>G (p.Pro1271=)
|
rs759945253
|
0.00001
|
NM_015046.7(SETX):c.3823C>T (p.Arg1275Cys)
|
rs760272692
|
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.4045C>G (p.Gln1349Glu)
|
rs146407699
|
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.4120A>G (p.Lys1374Glu)
|
rs756823072
|
0.00001
|
NM_015046.7(SETX):c.4262C>G (p.Pro1421Arg)
|
rs778111855
|
0.00001
|
NM_015046.7(SETX):c.4283A>G (p.His1428Arg)
|
rs778236359
|
0.00001
|
NM_015046.7(SETX):c.4297A>G (p.Thr1433Ala)
|
rs1038733632
|
0.00001
|
NM_015046.7(SETX):c.4417C>T (p.Arg1473Cys)
|
rs781185115
|
0.00001
|
NM_015046.7(SETX):c.4432G>A (p.Ala1478Thr)
|
rs759545112
|
0.00001
|
NM_015046.7(SETX):c.4459T>A (p.Ser1487Thr)
|
rs772466321
|
0.00001
|
NM_015046.7(SETX):c.4563A>G (p.Glu1521=)
|
rs374149839
|
0.00001
|
NM_015046.7(SETX):c.4663C>G (p.Leu1555Val)
|
rs558075773
|
0.00001
|
NM_015046.7(SETX):c.4707T>C (p.Ser1569=)
|
rs769964668
|
0.00001
|
NM_015046.7(SETX):c.4738C>T (p.Arg1580Cys)
|
rs752179261
|
0.00001
|
NM_015046.7(SETX):c.4757C>T (p.Pro1586Leu)
|
rs1165229035
|
0.00001
|
NM_015046.7(SETX):c.4759C>T (p.Pro1587Ser)
|
rs916634082
|
0.00001
|
NM_015046.7(SETX):c.484C>T (p.His162Tyr)
|
rs1186709340
|
0.00001
|
NM_015046.7(SETX):c.4860T>G (p.Leu1620=)
|
rs758938142
|
0.00001
|
NM_015046.7(SETX):c.4872A>G (p.Leu1624=)
|
rs567475841
|
0.00001
|
NM_015046.7(SETX):c.4885A>G (p.Lys1629Glu)
|
rs1362908917
|
0.00001
|
NM_015046.7(SETX):c.4903T>A (p.Leu1635Met)
|
rs1466879487
|
0.00001
|
NM_015046.7(SETX):c.4963T>C (p.Ser1655Pro)
|
rs142509544
|
0.00001
|
NM_015046.7(SETX):c.4970A>G (p.Asn1657Ser)
|
rs567825753
|
0.00001
|
NM_015046.7(SETX):c.4971T>C (p.Asn1657=)
|
rs1159266524
|
0.00001
|
NM_015046.7(SETX):c.4989T>A (p.Ser1663=)
|
rs185338915
|
0.00001
|
NM_015046.7(SETX):c.499-10C>T
|
rs1444405452
|
0.00001
|
NM_015046.7(SETX):c.499-9T>C
|
rs760214195
|
0.00001
|
NM_015046.7(SETX):c.5008C>A (p.Gln1670Lys)
|
rs762808367
|
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.5279C>T (p.Ala1760Val)
|
rs758411198
|
0.00001
|
NM_015046.7(SETX):c.5302A>T (p.Asn1768Tyr)
|
rs766799310
|
0.00001
|
NM_015046.7(SETX):c.5320C>T (p.Gln1774Ter)
|
rs1391764195
|
0.00001
|
NM_015046.7(SETX):c.5332C>T (p.Arg1778Ter)
|
rs1169623576
|
0.00001
|
NM_015046.7(SETX):c.5431G>A (p.Val1811Met)
|
rs947336270
|
0.00001
|
NM_015046.7(SETX):c.5434T>A (p.Phe1812Ile)
|
rs763771426
|
0.00001
|
NM_015046.7(SETX):c.5464A>G (p.Lys1822Glu)
|
rs1249423284
|
0.00001
|
NM_015046.7(SETX):c.5501A>G (p.His1834Arg)
|
rs770822383
|
0.00001
|
NM_015046.7(SETX):c.5503G>A (p.Glu1835Lys)
|
rs143133190
|
0.00001
|
NM_015046.7(SETX):c.5548+17G>A
|
rs1313333580
|
0.00001
|
NM_015046.7(SETX):c.5557G>A (p.Gly1853Arg)
|
rs377620145
|
0.00001
|
NM_015046.7(SETX):c.5573A>C (p.Tyr1858Ser)
|
rs747493129
|
0.00001
|
NM_015046.7(SETX):c.5661A>G (p.Gln1887=)
|
rs1589671916
|
0.00001
|
NM_015046.7(SETX):c.5697G>A (p.Arg1899=)
|
rs765849036
|
0.00001
|
NM_015046.7(SETX):c.5719C>T (p.Leu1907=)
|
rs767373911
|
0.00001
|
NM_015046.7(SETX):c.571G>A (p.Glu191Lys)
|
rs929798338
|
0.00001
|
NM_015046.7(SETX):c.5782-6A>G
|
rs781129157
|
0.00001
|
NM_015046.7(SETX):c.5786C>T (p.Ala1929Val)
|
rs200571606
|
0.00001
|
NM_015046.7(SETX):c.5804A>G (p.Asn1935Ser)
|
rs762791927
|
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.5839G>A (p.Ala1947Thr)
|
rs141440621
|
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.5936G>A (p.Arg1979His)
|
rs761031238
|
0.00001
|
NM_015046.7(SETX):c.5950-14G>A
|
rs375632375
|
0.00001
|
NM_015046.7(SETX):c.5970A>G (p.Ser1990=)
|
rs1844648216
|
0.00001
|
NM_015046.7(SETX):c.5973C>T (p.Asp1991=)
|
rs1210056357
|
0.00001
|
NM_015046.7(SETX):c.598A>G (p.Ile200Val)
|
rs1368588434
|
0.00001
|
NM_015046.7(SETX):c.6024T>C (p.Pro2008=)
|
rs1045096306
|
0.00001
|
NM_015046.7(SETX):c.6058A>G (p.Ile2020Val)
|
rs546932016
|
0.00001
|
NM_015046.7(SETX):c.6106+13T>C
|
rs370909687
|
0.00001
|
NM_015046.7(SETX):c.6107-5A>G
|
rs1284217475
|
0.00001
|
NM_015046.7(SETX):c.6158A>G (p.Asn2053Ser)
|
rs1429339677
|
0.00001
|
NM_015046.7(SETX):c.6172A>C (p.Lys2058Gln)
|
rs747309962
|
0.00001
|
NM_015046.7(SETX):c.617A>G (p.Glu206Gly)
|
rs759880306
|
0.00001
|
NM_015046.7(SETX):c.6193G>C (p.Val2065Leu)
|
rs755531730
|
0.00001
|
NM_015046.7(SETX):c.6248G>T (p.Arg2083Ile)
|
rs751252138
|
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.6474T>C (p.Ser2158=)
|
rs1216377543
|
0.00001
|
NM_015046.7(SETX):c.64G>A (p.Ala22Thr)
|
rs756600708
|
0.00001
|
NM_015046.7(SETX):c.6546+18C>G
|
rs915871195
|
0.00001
|
NM_015046.7(SETX):c.6620A>T (p.Asp2207Val)
|
rs1564482221
|
0.00001
|
NM_015046.7(SETX):c.6654+12A>G
|
rs1015821444
|
0.00001
|
NM_015046.7(SETX):c.6678C>A (p.Asp2226Glu)
|
rs752107891
|
0.00001
|
NM_015046.7(SETX):c.6771G>A (p.Gln2257=)
|
rs778895541
|
0.00001
|
NM_015046.7(SETX):c.6792A>G (p.Ile2264Met)
|
rs148041889
|
0.00001
|
NM_015046.7(SETX):c.6804T>A (p.Pro2268=)
|
rs145236863
|
0.00001
|
NM_015046.7(SETX):c.6805T>A (p.Ser2269Thr)
|
rs1421665944
|
0.00001
|
NM_015046.7(SETX):c.6838A>G (p.Asn2280Asp)
|
rs1843269972
|
0.00001
|
NM_015046.7(SETX):c.6897dup (p.Phe2300fs)
|
rs1331217337
|
0.00001
|
NM_015046.7(SETX):c.6922A>G (p.Arg2308Gly)
|
rs370135596
|
0.00001
|
NM_015046.7(SETX):c.6970A>T (p.Met2324Leu)
|
rs781671592
|
0.00001
|
NM_015046.7(SETX):c.7005G>C (p.Lys2335Asn)
|
rs141657462
|
0.00001
|
NM_015046.7(SETX):c.7058C>T (p.Thr2353Met)
|
rs201629099
|
0.00001
|
NM_015046.7(SETX):c.7103C>G (p.Pro2368Arg)
|
rs1420833435
|
0.00001
|
NM_015046.7(SETX):c.7139G>A (p.Arg2380Gln)
|
rs145397619
|
0.00001
|
NM_015046.7(SETX):c.71A>G (p.Asn24Ser)
|
rs981346599
|
0.00001
|
NM_015046.7(SETX):c.7290A>T (p.Glu2430Asp)
|
rs912160285
|
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.7447G>A (p.Gly2483Arg)
|
rs183776349
|
0.00001
|
NM_015046.7(SETX):c.7473C>T (p.Pro2491=)
|
rs1173009713
|
0.00001
|
NM_015046.7(SETX):c.7475G>C (p.Ser2492Thr)
|
rs1842557730
|
0.00001
|
NM_015046.7(SETX):c.7481A>G (p.Lys2494Arg)
|
rs755711135
|
0.00001
|
NM_015046.7(SETX):c.7590T>A (p.Pro2530=)
|
rs1374204163
|
0.00001
|
NM_015046.7(SETX):c.765C>A (p.Ser255=)
|
rs774297687
|
0.00001
|
NM_015046.7(SETX):c.7666T>A (p.Trp2556Arg)
|
rs756715534
|
0.00001
|
NM_015046.7(SETX):c.7708C>T (p.Pro2570Ser)
|
rs1240232139
|
0.00001
|
NM_015046.7(SETX):c.7720G>A (p.Glu2574Lys)
|
rs145345675
|
0.00001
|
NM_015046.7(SETX):c.7771G>A (p.Ala2591Thr)
|
rs146862359
|
0.00001
|
NM_015046.7(SETX):c.7778T>C (p.Val2593Ala)
|
rs905773255
|
0.00001
|
NM_015046.7(SETX):c.7814G>A (p.Arg2605Gln)
|
rs543247171
|
0.00001
|
NM_015046.7(SETX):c.7912T>G (p.Phe2638Val)
|
rs144706487
|
0.00001
|
NM_015046.7(SETX):c.7972A>G (p.Arg2658Gly)
|
rs779793402
|
0.00001
|
NM_015046.7(SETX):c.808A>G (p.Ile270Val)
|
rs1387745582
|
0.00001
|
NM_015046.7(SETX):c.820A>G (p.Met274Val)
|
rs753713810
|
0.00001
|
NM_015046.7(SETX):c.823G>A (p.Glu275Lys)
|
rs901741485
|
0.00001
|
NM_015046.7(SETX):c.865G>A (p.Ala289Thr)
|
rs775579797
|
0.00001
|
NM_015046.7(SETX):c.866C>T (p.Ala289Val)
|
rs1237541645
|
0.00001
|
NM_015046.7(SETX):c.964G>A (p.Ala322Thr)
|
rs540348550
|
0.00001
|
NM_015046.7(SETX):c.980A>T (p.Glu327Val)
|
rs1315992594
|
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
|
NM_015046.7(SETX):c.99C>T (p.Ala33=)
|
rs762914576
|
0.00001
|
NC_000009.11:g.(?_135139626)_(135158820_?)dup
|
|
|
NC_000009.11:g.(?_135156834)_(135156981_?)del
|
|
|
NC_000009.11:g.(?_135171239)_(135187263_?)del
|
|
|
NC_000009.11:g.(?_135201691)_(135210134_?)del
|
|
|
NC_000009.11:g.(?_135201691)_(135224815_?)del
|
|
|
NC_000009.11:g.(?_135209975)_(135210134_?)del
|
|
|
NC_000009.11:g.(?_135209975)_(135210134_?)dup
|
|
|
NC_000009.12:g.(?_132264229)_(132349438_?)dup
|
|
|
NM_015046.5(SETX):c.[1807A>G;1957C>A]
|
|
|
NM_015046.5(SETX):c.[3880C>T;822G>H]
|
|
|
NM_015046.5(SETX):c.[6106G>A];[7149_7151delTTGinsAT]
|
|
|
NM_015046.6(SETX):c.6848_6851delCAGA
|
|
|
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.1006G>A (p.Val336Ile)
|
|
|
NM_015046.7(SETX):c.1010+14A>C
|
|
|
NM_015046.7(SETX):c.1010+4_1010+7dup
|
rs1222378139
|
|
NM_015046.7(SETX):c.1011G>C (p.Arg337Ser)
|
|
|
NM_015046.7(SETX):c.1025C>T (p.Pro342Leu)
|
|
|
NM_015046.7(SETX):c.1026G>A (p.Pro342=)
|
|
|
NM_015046.7(SETX):c.1027G>T (p.Glu343Ter)
|
rs121434381
|
|
NM_015046.7(SETX):c.1034A>T (p.Tyr345Phe)
|
|
|
NM_015046.7(SETX):c.1040A>G (p.Asp347Gly)
|
|
|
NM_015046.7(SETX):c.1075T>C (p.Tyr359His)
|
|
|
NM_015046.7(SETX):c.1094A>G (p.Lys365Arg)
|
|
|
NM_015046.7(SETX):c.1098+17_1098+19dup
|
|
|
NM_015046.7(SETX):c.1099-13del
|
|
|
NM_015046.7(SETX):c.1099-17C>T
|
|
|
NM_015046.7(SETX):c.1099-20C>T
|
|
|
NM_015046.7(SETX):c.1146G>A (p.Met382Ile)
|
|
|
NM_015046.7(SETX):c.1153G>A (p.Glu385Lys)
|
rs1554821963
|
|
NM_015046.7(SETX):c.1166T>C (p.Leu389Ser)
|
rs29001584
|
|
NM_015046.7(SETX):c.1173T>C (p.Ser391=)
|
|
|
NM_015046.7(SETX):c.1260T>C (p.Asp420=)
|
rs2131462924
|
|
NM_015046.7(SETX):c.1285A>G (p.Ile429Val)
|
rs747053403
|
|
NM_015046.7(SETX):c.12TTG[1] (p.Cys5del)
|
rs774123592
|
|
NM_015046.7(SETX):c.1322A>G (p.Lys441Arg)
|
|
|
NM_015046.7(SETX):c.1330C>T (p.Leu444Phe)
|
|
|
NM_015046.7(SETX):c.1338A>G (p.Gln446=)
|
|
|
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.135T>A (p.Ala45=)
|
|
|
NM_015046.7(SETX):c.1391_1392inv (p.Ser464Leu)
|
|
|
NM_015046.7(SETX):c.1392A>T (p.Ser464=)
|
|
|
NM_015046.7(SETX):c.1397T>G (p.Ile466Ser)
|
rs2131461800
|
|
NM_015046.7(SETX):c.1407T>C (p.His469=)
|
|
|
NM_015046.7(SETX):c.1419A>T (p.Lys473Asn)
|
|
|
NM_015046.7(SETX):c.1421G>A (p.Cys474Tyr)
|
rs754200234
|
|
NM_015046.7(SETX):c.1423T>C (p.Leu475=)
|
|
|
NM_015046.7(SETX):c.1427_1432del (p.His476_Leu477del)
|
rs777314512
|
|
NM_015046.7(SETX):c.1443T>C (p.Ser481=)
|
|
|
NM_015046.7(SETX):c.1459G>A (p.Glu487Lys)
|
|
|
NM_015046.7(SETX):c.1484T>C (p.Leu495Pro)
|
rs2131461009
|
|
NM_015046.7(SETX):c.1496C>T (p.Ala499Val)
|
|
|
NM_015046.7(SETX):c.14G>C (p.Cys5Ser)
|
rs1589791895
|
|
NM_015046.7(SETX):c.152G>A (p.Arg51Lys)
|
rs777256092
|
|
NM_015046.7(SETX):c.1535C>G (p.Ser512Cys)
|
|
|
NM_015046.7(SETX):c.1536C>T (p.Ser512=)
|
rs2131460559
|
|
NM_015046.7(SETX):c.1541G>C (p.Gly514Ala)
|
|
|
NM_015046.7(SETX):c.1544C>T (p.Thr515Ile)
|
|
|
NM_015046.7(SETX):c.1549A>G (p.Met517Val)
|
|
|
NM_015046.7(SETX):c.1550T>G (p.Met517Arg)
|
|
|
NM_015046.7(SETX):c.156T>C (p.Asp52=)
|
rs1848476611
|
|
NM_015046.7(SETX):c.1573T>G (p.Ser525Ala)
|
rs2131460183
|
|
NM_015046.7(SETX):c.1576A>G (p.Met526Val)
|
rs762013471
|
|
NM_015046.7(SETX):c.1583C>T (p.Ser528Phe)
|
|
|
NM_015046.7(SETX):c.1585A>G (p.Asn529Asp)
|
rs1847120441
|
|
NM_015046.7(SETX):c.1590T>C (p.Ser530=)
|
|
|
NM_015046.7(SETX):c.159A>G (p.Glu53=)
|
rs2131575185
|
|
NM_015046.7(SETX):c.160T>C (p.Leu54=)
|
|
|
NM_015046.7(SETX):c.1612C>T (p.Leu538=)
|
|
|
NM_015046.7(SETX):c.1617T>A (p.Ile539=)
|
|
|
NM_015046.7(SETX):c.162G>A (p.Leu54=)
|
rs1175429740
|
|
NM_015046.7(SETX):c.1655A>C (p.Gln552Pro)
|
|
|
NM_015046.7(SETX):c.1667A>G (p.Lys556Arg)
|
|
|
NM_015046.7(SETX):c.1668G>A (p.Lys556=)
|
rs1328865930
|
|
NM_015046.7(SETX):c.1732A>G (p.Ser578Gly)
|
rs770280073
|
|
NM_015046.7(SETX):c.173A>G (p.His58Arg)
|
|
|
NM_015046.7(SETX):c.174T>C (p.His58=)
|
rs1470975448
|
|
NM_015046.7(SETX):c.177+6A>G
|
rs2131575018
|
|
NM_015046.7(SETX):c.1771A>G (p.Ile591Val)
|
|
|
NM_015046.7(SETX):c.178-19C>T
|
|
|
NM_015046.7(SETX):c.1783A>G (p.Ile595Val)
|
|
|
NM_015046.7(SETX):c.1784T>A (p.Ile595Lys)
|
|
|
NM_015046.7(SETX):c.1795G>A (p.Ala599Thr)
|
|
|
NM_015046.7(SETX):c.1803A>G (p.Pro601=)
|
|
|
NM_015046.7(SETX):c.1841T>C (p.Ile614Thr)
|
|
|
NM_015046.7(SETX):c.1844C>T (p.Ser615Phe)
|
rs143340285
|
|
NM_015046.7(SETX):c.1849G>A (p.Ala617Thr)
|
|
|
NM_015046.7(SETX):c.1880T>A (p.Met627Lys)
|
|
|
NM_015046.7(SETX):c.1886A>C (p.Lys629Thr)
|
rs768673354
|
|
NM_015046.7(SETX):c.1890G>A (p.Thr630=)
|
|
|
NM_015046.7(SETX):c.1894A>G (p.Arg632Gly)
|
|
|
NM_015046.7(SETX):c.1910G>A (p.Cys637Tyr)
|
|
|
NM_015046.7(SETX):c.1914G>T (p.Leu638Phe)
|
|
|
NM_015046.7(SETX):c.1919C>A (p.Ala640Asp)
|
rs998278975
|
|
NM_015046.7(SETX):c.1919C>G (p.Ala640Gly)
|
|
|
NM_015046.7(SETX):c.1922C>G (p.Ser641Cys)
|
rs886063557
|
|
NM_015046.7(SETX):c.1932A>G (p.Thr644=)
|
|
|
NM_015046.7(SETX):c.1937C>T (p.Ser646Phe)
|
|
|
NM_015046.7(SETX):c.1939A>G (p.Lys647Glu)
|
|
|
NM_015046.7(SETX):c.193G>A (p.Glu65Lys)
|
rs1554825315
|
|
NM_015046.7(SETX):c.1942_1944del (p.Glu648del)
|
|
|
NM_015046.7(SETX):c.1948A>G (p.Met650Val)
|
|
|
NM_015046.7(SETX):c.1964G>C (p.Ser655Thr)
|
|
|
NM_015046.7(SETX):c.1966G>A (p.Val656Ile)
|
|
|
NM_015046.7(SETX):c.197C>T (p.Thr66Ile)
|
|
|
NM_015046.7(SETX):c.1986C>T (p.Asn662=)
|
rs1307680734
|
|
NM_015046.7(SETX):c.1988C>T (p.Thr663Ile)
|
|
|
NM_015046.7(SETX):c.1991T>C (p.Ile664Thr)
|
|
|
NM_015046.7(SETX):c.1993G>A (p.Glu665Lys)
|
rs1339144218
|
|
NM_015046.7(SETX):c.1993G>C (p.Glu665Gln)
|
rs1339144218
|
|
NM_015046.7(SETX):c.1996G>C (p.Gly666Arg)
|
|
|
NM_015046.7(SETX):c.1999G>A (p.Asp667Asn)
|
|
|
NM_015046.7(SETX):c.199T>C (p.Leu67=)
|
rs2131558600
|
|
NM_015046.7(SETX):c.2037A>G (p.Leu679=)
|
rs1432462823
|
|
NM_015046.7(SETX):c.2057G>T (p.Gly686Val)
|
|
|
NM_015046.7(SETX):c.207C>G (p.Leu69=)
|
|
|
NM_015046.7(SETX):c.2096A>G (p.Glu699Gly)
|
|
|
NM_015046.7(SETX):c.2114_2118del (p.Ile705fs)
|
|
|
NM_015046.7(SETX):c.2123G>T (p.Ser708Ile)
|
rs1554821571
|
|
NM_015046.7(SETX):c.2124T>G (p.Ser708Arg)
|
|
|
NM_015046.7(SETX):c.2128A>G (p.Arg710Gly)
|
|
|
NM_015046.7(SETX):c.2133G>A (p.Lys711=)
|
rs746772505
|
|
NM_015046.7(SETX):c.2154C>A (p.Ile718=)
|
|
|
NM_015046.7(SETX):c.2160A>C (p.Ser720=)
|
|
|
NM_015046.7(SETX):c.2177G>A (p.Cys726Tyr)
|
|
|
NM_015046.7(SETX):c.2190T>C (p.Asn730=)
|
|
|
NM_015046.7(SETX):c.2200A>G (p.Arg734Gly)
|
rs2131454695
|
|
NM_015046.7(SETX):c.2232A>C (p.Thr744=)
|
rs749481788
|
|
NM_015046.7(SETX):c.2241G>C (p.Leu747Phe)
|
|
|
NM_015046.7(SETX):c.2267A>T (p.Glu756Val)
|
rs202036078
|
|
NM_015046.7(SETX):c.2284A>C (p.Asn762His)
|
|
|
NM_015046.7(SETX):c.2284A>T (p.Asn762Tyr)
|
|
|
NM_015046.7(SETX):c.2303A>T (p.Lys768Met)
|
rs1554821462
|
|
NM_015046.7(SETX):c.2311G>C (p.Ala771Pro)
|
|
|
NM_015046.7(SETX):c.2316T>C (p.Leu772=)
|
|
|
NM_015046.7(SETX):c.2320A>G (p.Lys774Glu)
|
rs2131453786
|
|
NM_015046.7(SETX):c.2332C>T (p.Arg778Ter)
|
rs747501465
|
|
NM_015046.7(SETX):c.2339C>T (p.Thr780Ile)
|
rs1554821445
|
|
NM_015046.7(SETX):c.2364T>G (p.Cys788Trp)
|
|
|
NM_015046.7(SETX):c.2380G>A (p.Val794Ile)
|
|
|
NM_015046.7(SETX):c.2383A>G (p.Ile795Val)
|
|
|
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.2415C>T (p.Val805=)
|
|
|
NM_015046.7(SETX):c.2416G>A (p.Asp806Asn)
|
|
|
NM_015046.7(SETX):c.241A>G (p.Ile81Val)
|
|
|
NM_015046.7(SETX):c.2426T>C (p.Ile809Thr)
|
|
|
NM_015046.7(SETX):c.2429A>G (p.Asn810Ser)
|
|
|
NM_015046.7(SETX):c.2435A>G (p.Asp812Gly)
|
|
|
NM_015046.7(SETX):c.2443T>A (p.Leu815Met)
|
|
|
NM_015046.7(SETX):c.2445G>T (p.Leu815Phe)
|
|
|
NM_015046.7(SETX):c.2471A>G (p.Tyr824Cys)
|
rs544815791
|
|
NM_015046.7(SETX):c.2483A>C (p.Asp828Ala)
|
|
|
NM_015046.7(SETX):c.24G>A (p.Thr8=)
|
|
|
NM_015046.7(SETX):c.2507G>T (p.Gly836Val)
|
|
|
NM_015046.7(SETX):c.2516A>T (p.His839Leu)
|
rs1847047743
|
|
NM_015046.7(SETX):c.2517C>T (p.His839=)
|
rs1464623855
|
|
NM_015046.7(SETX):c.2520T>C (p.Asn840=)
|
|
|
NM_015046.7(SETX):c.2533C>T (p.Pro845Ser)
|
rs1847046317
|
|
NM_015046.7(SETX):c.2536A>C (p.Ser846Arg)
|
rs774820992
|
|
NM_015046.7(SETX):c.2536A>G (p.Ser846Gly)
|
|
|
NM_015046.7(SETX):c.2580C>A (p.Asn860Lys)
|
|
|
NM_015046.7(SETX):c.2582A>G (p.Asn861Ser)
|
|
|
NM_015046.7(SETX):c.2587T>C (p.Leu863=)
|
|
|
NM_015046.7(SETX):c.2591C>T (p.Pro864Leu)
|
|
|
NM_015046.7(SETX):c.25C>T (p.Pro9Ser)
|
|
|
NM_015046.7(SETX):c.2602C>T (p.Gln868Ter)
|
rs121434377
|
|
NM_015046.7(SETX):c.2612A>G (p.Asn871Ser)
|
|
|
NM_015046.7(SETX):c.2622A>C (p.Leu874Phe)
|
|
|
NM_015046.7(SETX):c.2635T>C (p.Phe879Leu)
|
rs2131450530
|
|
NM_015046.7(SETX):c.2641G>A (p.Glu881Lys)
|
|
|
NM_015046.7(SETX):c.2646C>T (p.Asn882=)
|
|
|
NM_015046.7(SETX):c.2648A>G (p.Asn883Ser)
|
|
|
NM_015046.7(SETX):c.2668C>T (p.His890Tyr)
|
|
|
NM_015046.7(SETX):c.267A>C (p.Ile89=)
|
|
|
NM_015046.7(SETX):c.2698A>G (p.Thr900Ala)
|
rs1320466105
|
|
NM_015046.7(SETX):c.2721GAA[1] (p.Lys909del)
|
|
|
NM_015046.7(SETX):c.2729C>T (p.Ser910Leu)
|
|
|
NM_015046.7(SETX):c.273C>T (p.Asp91=)
|
|
|
NM_015046.7(SETX):c.2773GAG[1] (p.Glu926del)
|
|
|
NM_015046.7(SETX):c.2783G>A (p.Ser928Asn)
|
rs1258279869
|
|
NM_015046.7(SETX):c.2827G>C (p.Ala943Pro)
|
|
|
NM_015046.7(SETX):c.2830C>G (p.Pro944Ala)
|
|
|
NM_015046.7(SETX):c.2842C>T (p.Pro948Ser)
|
rs778882347
|
|
NM_015046.7(SETX):c.2849C>A (p.Ser950Tyr)
|
rs1847020598
|
|
NM_015046.7(SETX):c.2878A>G (p.Arg960Gly)
|
|
|
NM_015046.7(SETX):c.2887C>T (p.His963Tyr)
|
|
|
NM_015046.7(SETX):c.2895A>G (p.Leu965=)
|
|
|
NM_015046.7(SETX):c.2902C>T (p.Leu968=)
|
|
|
NM_015046.7(SETX):c.2907T>A (p.Ala969=)
|
|
|
NM_015046.7(SETX):c.2925G>C (p.Thr975=)
|
|
|
NM_015046.7(SETX):c.2958G>A (p.Gln986=)
|
rs969060686
|
|
NM_015046.7(SETX):c.2964A>G (p.Gln988=)
|
|
|
NM_015046.7(SETX):c.2967_2971del (p.Arg989fs)
|
rs587776536
|
|
NM_015046.7(SETX):c.2972T>C (p.Val991Ala)
|
|
|
NM_015046.7(SETX):c.2987_2988del (p.Arg996fs)
|
|
|
NM_015046.7(SETX):c.2988A>G (p.Arg996=)
|
rs1358681495
|
|
NM_015046.7(SETX):c.2990G>A (p.Cys997Tyr)
|
|
|
NM_015046.7(SETX):c.3018A>T (p.Gly1006=)
|
|
|
NM_015046.7(SETX):c.3021T>A (p.Asp1007Glu)
|
rs1847007637
|
|
NM_015046.7(SETX):c.3026C>T (p.Ser1009Phe)
|
|
|
NM_015046.7(SETX):c.3027C>T (p.Ser1009=)
|
|
|
NM_015046.7(SETX):c.3037_3039del (p.Val1013del)
|
|
|
NM_015046.7(SETX):c.3040ATT[2] (p.Ile1016del)
|
rs765663814
|
|
NM_015046.7(SETX):c.3053A>G (p.Asp1018Gly)
|
rs768510428
|
|
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.3064G>A (p.Asp1022Asn)
|
|
|
NM_015046.7(SETX):c.3079_3080insAGG (p.Ile1027delinsLysVal)
|
|
|
NM_015046.7(SETX):c.3084G>A (p.Leu1028=)
|
|
|
NM_015046.7(SETX):c.3096A>G (p.Lys1032=)
|
|
|
NM_015046.7(SETX):c.3098T>C (p.Leu1033Pro)
|
|
|
NM_015046.7(SETX):c.3161A>C (p.Asn1054Thr)
|
|
|
NM_015046.7(SETX):c.3162_3167del (p.Asn1054_Ser1055del)
|
rs576141809
|
|
NM_015046.7(SETX):c.3181C>G (p.Pro1061Ala)
|
|
|
NM_015046.7(SETX):c.3181C>T (p.Pro1061Ser)
|
|
|
NM_015046.7(SETX):c.3187A>G (p.Lys1063Glu)
|
|
|
NM_015046.7(SETX):c.3199A>C (p.Thr1067Pro)
|
|
|
NM_015046.7(SETX):c.3208C>G (p.Leu1070Val)
|
rs931570379
|
|
NM_015046.7(SETX):c.3212_3213del (p.Phe1071fs)
|
|
|
NM_015046.7(SETX):c.3215A>G (p.Gln1072Arg)
|
|
|
NM_015046.7(SETX):c.3242T>C (p.Phe1081Ser)
|
rs1564542121
|
|
NM_015046.7(SETX):c.3247T>C (p.Phe1083Leu)
|
rs2131444517
|
|
NM_015046.7(SETX):c.3265G>A (p.Val1089Met)
|
rs917637229
|
|
NM_015046.7(SETX):c.3269T>G (p.Phe1090Cys)
|
|
|
NM_015046.7(SETX):c.3277T>G (p.Trp1093Gly)
|
|
|
NM_015046.7(SETX):c.3279G>T (p.Trp1093Cys)
|
|
|
NM_015046.7(SETX):c.3281A>G (p.Gln1094Arg)
|
|
|
NM_015046.7(SETX):c.3288_3291del (p.His1096fs)
|
|
|
NM_015046.7(SETX):c.3295G>A (p.Asp1099Asn)
|
|
|
NM_015046.7(SETX):c.3299A>G (p.Asn1100Ser)
|
rs545072717
|
|
NM_015046.7(SETX):c.32G>A (p.Gly11Asp)
|
rs886063560
|
|
NM_015046.7(SETX):c.331C>T (p.Arg111Ter)
|
|
|
NM_015046.7(SETX):c.3329G>A (p.Cys1110Tyr)
|
|
|
NM_015046.7(SETX):c.3333G>C (p.Leu1111Phe)
|
|
|
NM_015046.7(SETX):c.3350C>T (p.Thr1117Ile)
|
rs1564541749
|
|
NM_015046.7(SETX):c.3359G>A (p.Gly1120Asp)
|
rs1278965355
|
|
NM_015046.7(SETX):c.3370A>G (p.Thr1124Ala)
|
rs866546546
|
|
NM_015046.7(SETX):c.3376T>G (p.Tyr1126Asp)
|
rs907569728
|
|
NM_015046.7(SETX):c.3399A>T (p.Lys1133Asn)
|
|
|
NM_015046.7(SETX):c.33T>C (p.Gly11=)
|
rs1243832257
|
|
NM_015046.7(SETX):c.340CTT[1] (p.Leu115del)
|
rs587776537
|
|
NM_015046.7(SETX):c.3412A>T (p.Ile1138Phe)
|
|
|
NM_015046.7(SETX):c.3417A>C (p.Glu1139Asp)
|
|
|
NM_015046.7(SETX):c.3422A>T (p.His1141Leu)
|
rs1554820904
|
|
NM_015046.7(SETX):c.3424A>G (p.Thr1142Ala)
|
|
|
NM_015046.7(SETX):c.3429A>T (p.Arg1143Ser)
|
|
|
NM_015046.7(SETX):c.3437G>A (p.Ser1146Asn)
|
|
|
NM_015046.7(SETX):c.3469G>T (p.Val1157Leu)
|
rs748505684
|
|
NM_015046.7(SETX):c.3491G>A (p.Arg1164Gln)
|
|
|
NM_015046.7(SETX):c.3497A>G (p.Glu1166Gly)
|
rs1554820858
|
|
NM_015046.7(SETX):c.34G>T (p.Ala12Ser)
|
|
|
NM_015046.7(SETX):c.3515A>G (p.Asp1172Gly)
|
|
|
NM_015046.7(SETX):c.3517C>G (p.Pro1173Ala)
|
rs141996565
|
|
NM_015046.7(SETX):c.3532TCT[1] (p.Ser1179del)
|
|
|
NM_015046.7(SETX):c.3544A>T (p.Asn1182Tyr)
|
rs1846954116
|
|
NM_015046.7(SETX):c.3567T>C (p.Asn1189=)
|
|
|
NM_015046.7(SETX):c.3571A>G (p.Arg1191Gly)
|
|
|
NM_015046.7(SETX):c.3589G>A (p.Asp1197Asn)
|
rs149558692
|
|
NM_015046.7(SETX):c.3589G>T (p.Asp1197Tyr)
|
|
|
NM_015046.7(SETX):c.3598A>T (p.Ser1200Cys)
|
|
|
NM_015046.7(SETX):c.3607A>G (p.Arg1203Gly)
|
|
|
NM_015046.7(SETX):c.3620C>G (p.Thr1207Ser)
|
|
|
NM_015046.7(SETX):c.3632G>A (p.Arg1211His)
|
|
|
NM_015046.7(SETX):c.3641G>T (p.Arg1214Ile)
|
rs763375641
|
|
NM_015046.7(SETX):c.3642A>C (p.Arg1214Ser)
|
|
|
NM_015046.7(SETX):c.3649A>G (p.Thr1217Ala)
|
rs1846942479
|
|
NM_015046.7(SETX):c.3651G>A (p.Thr1217=)
|
rs111419285
|
|
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.3674A>T (p.Lys1225Met)
|
|
|
NM_015046.7(SETX):c.3676C>T (p.Leu1226Phe)
|
rs2131440671
|
|
NM_015046.7(SETX):c.3681T>A (p.Cys1227Ter)
|
rs2131440608
|
|
NM_015046.7(SETX):c.3699C>T (p.Ile1233=)
|
|
|
NM_015046.7(SETX):c.369_372del (p.Leu123fs)
|
|
|
NM_015046.7(SETX):c.3700A>G (p.Arg1234Gly)
|
|
|
NM_015046.7(SETX):c.3706G>A (p.Val1236Ile)
|
|
|
NM_015046.7(SETX):c.3722C>T (p.Thr1241Ile)
|
|
|
NM_015046.7(SETX):c.3727A>G (p.Lys1243Glu)
|
|
|
NM_015046.7(SETX):c.3728A>G (p.Lys1243Arg)
|
rs1467137301
|
|
NM_015046.7(SETX):c.3732A>G (p.Lys1244=)
|
|
|
NM_015046.7(SETX):c.3737A>C (p.His1246Pro)
|
rs2131440106
|
|
NM_015046.7(SETX):c.3761A>C (p.Asn1254Thr)
|
|
|
NM_015046.7(SETX):c.3796_3798del (p.Pro1266del)
|
rs2131439346
|
|
NM_015046.7(SETX):c.3802A>T (p.Ile1268Leu)
|
|
|
NM_015046.7(SETX):c.3816G>T (p.Lys1272Asn)
|
|
|
NM_015046.7(SETX):c.3819A>G (p.Lys1273=)
|
|
|
NM_015046.7(SETX):c.3837G>A (p.Glu1279=)
|
|
|
NM_015046.7(SETX):c.3841A>C (p.Thr1281Pro)
|
|
|
NM_015046.7(SETX):c.387_388+2del
|
|
|
NM_015046.7(SETX):c.388+12G>A
|
|
|
NM_015046.7(SETX):c.388+16G>A
|
|
|
NM_015046.7(SETX):c.388+19C>G
|
|
|
NM_015046.7(SETX):c.388+19C>T
|
|
|
NM_015046.7(SETX):c.388+8T>G
|
|
|
NM_015046.7(SETX):c.3881G>A (p.Arg1294His)
|
|
|
NM_015046.7(SETX):c.389-15T>C
|
|
|
NM_015046.7(SETX):c.389-20A>C
|
rs1848060275
|
|
NM_015046.7(SETX):c.389-7T>C
|
|
|
NM_015046.7(SETX):c.389-8_389-6del
|
|
|
NM_015046.7(SETX):c.389-9del
|
rs534931548
|
|
NM_015046.7(SETX):c.3890A>T (p.Tyr1297Phe)
|
|
|
NM_015046.7(SETX):c.3902A>G (p.Gln1301Arg)
|
|
|
NM_015046.7(SETX):c.3927A>G (p.Gln1309=)
|
|
|
NM_015046.7(SETX):c.3930A>C (p.Leu1310Phe)
|
|
|
NM_015046.7(SETX):c.3942C>T (p.Gly1314=)
|
|
|
NM_015046.7(SETX):c.3945A>G (p.Lys1315=)
|
|
|
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.3966C>T (p.Thr1322=)
|
|
|
NM_015046.7(SETX):c.397T>G (p.Cys133Gly)
|
rs766625711
|
|
NM_015046.7(SETX):c.3989C>T (p.Ser1330Phe)
|
|
|
NM_015046.7(SETX):c.3989CTC[1] (p.Pro1331del)
|
|
|
NM_015046.7(SETX):c.3991C>T (p.Pro1331Ser)
|
|
|
NM_015046.7(SETX):c.4020_4022del (p.Lys1341del)
|
rs769558791
|
|
NM_015046.7(SETX):c.4031C>G (p.Thr1344Ser)
|
|
|
NM_015046.7(SETX):c.4053A>G (p.Gln1351=)
|
rs886063553
|
|
NM_015046.7(SETX):c.4066C>T (p.Pro1356Ser)
|
|
|
NM_015046.7(SETX):c.4071A>G (p.Lys1357=)
|
|
|
NM_015046.7(SETX):c.4073C>T (p.Ser1358Leu)
|
|
|
NM_015046.7(SETX):c.407C>T (p.Ala136Val)
|
|
|
NM_015046.7(SETX):c.4090_4092del (p.Arg1364del)
|
|
|
NM_015046.7(SETX):c.4093C>T (p.Leu1365Phe)
|
|
|
NM_015046.7(SETX):c.409C>G (p.Leu137Val)
|
|
|
NM_015046.7(SETX):c.4103G>T (p.Cys1368Phe)
|
rs1445388214
|
|
NM_015046.7(SETX):c.4145A>G (p.Gln1382Arg)
|
|
|
NM_015046.7(SETX):c.4177A>G (p.Arg1393Gly)
|
|
|
NM_015046.7(SETX):c.4181C>T (p.Ser1394Leu)
|
|
|
NM_015046.7(SETX):c.4187A>G (p.Tyr1396Cys)
|
|
|
NM_015046.7(SETX):c.4210G>A (p.Val1404Ile)
|
|
|
NM_015046.7(SETX):c.4213C>T (p.Leu1405Phe)
|
|
|
NM_015046.7(SETX):c.4222A>C (p.Ser1408Arg)
|
|
|
NM_015046.7(SETX):c.4222A>G (p.Ser1408Gly)
|
|
|
NM_015046.7(SETX):c.4259A>G (p.Glu1420Gly)
|
|
|
NM_015046.7(SETX):c.4286G>T (p.Gly1429Val)
|
|
|
NM_015046.7(SETX):c.4316T>C (p.Leu1439Ser)
|
rs1589737441
|
|
NM_015046.7(SETX):c.4325G>A (p.Cys1442Tyr)
|
|
|
NM_015046.7(SETX):c.4326T>G (p.Cys1442Trp)
|
|
|
NM_015046.7(SETX):c.4327G>A (p.Asp1443Asn)
|
|
|
NM_015046.7(SETX):c.4336G>T (p.Val1446Leu)
|
rs1477696040
|
|
NM_015046.7(SETX):c.4349C>G (p.Thr1450Arg)
|
|
|
NM_015046.7(SETX):c.4352T>A (p.Val1451Glu)
|
|
|
NM_015046.7(SETX):c.4373T>C (p.Val1458Ala)
|
|
|
NM_015046.7(SETX):c.4374C>G (p.Val1458=)
|
|
|
NM_015046.7(SETX):c.4374C>T (p.Val1458=)
|
|
|
NM_015046.7(SETX):c.4377C>T (p.Ser1459=)
|
|
|
NM_015046.7(SETX):c.4386A>G (p.Glu1462=)
|
rs1554820336
|
|
NM_015046.7(SETX):c.43A>G (p.Ile15Val)
|
rs151040199
|
|
NM_015046.7(SETX):c.43A>T (p.Ile15Phe)
|
|
|
NM_015046.7(SETX):c.4412C>T (p.Thr1471Ile)
|
|
|
NM_015046.7(SETX):c.4445A>G (p.Glu1482Gly)
|
|
|
NM_015046.7(SETX):c.4468G>A (p.Asp1490Asn)
|
|
|
NM_015046.7(SETX):c.4472C>G (p.Ala1491Gly)
|
|
|
NM_015046.7(SETX):c.4476G>C (p.Glu1492Asp)
|
|
|
NM_015046.7(SETX):c.4481A>G (p.Asp1494Gly)
|
|
|
NM_015046.7(SETX):c.4500A>G (p.Gln1500=)
|
|
|
NM_015046.7(SETX):c.4516A>G (p.Met1506Val)
|
|
|
NM_015046.7(SETX):c.4517T>A (p.Met1506Lys)
|
rs199974622
|
|
NM_015046.7(SETX):c.4517T>C (p.Met1506Thr)
|
rs199974622
|
|
NM_015046.7(SETX):c.4528T>G (p.Ser1510Ala)
|
|
|
NM_015046.7(SETX):c.4547A>G (p.Asn1516Ser)
|
|
|
NM_015046.7(SETX):c.4559T>C (p.Ile1520Thr)
|
|
|
NM_015046.7(SETX):c.4573G>A (p.Gly1525Arg)
|
|
|
NM_015046.7(SETX):c.4582A>G (p.Thr1528Ala)
|
|
|
NM_015046.7(SETX):c.4585G>A (p.Val1529Ile)
|
|
|
NM_015046.7(SETX):c.459T>C (p.His153=)
|
rs774939461
|
|
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.4601A>T (p.Asp1534Val)
|
rs1554820219
|
|
NM_015046.7(SETX):c.4613G>A (p.Arg1538Gln)
|
|
|
NM_015046.7(SETX):c.4624G>A (p.Glu1542Lys)
|
rs2131431252
|
|
NM_015046.7(SETX):c.4635T>A (p.Ser1545Arg)
|
|
|
NM_015046.7(SETX):c.4641A>G (p.Thr1547=)
|
|
|
NM_015046.7(SETX):c.4670C>G (p.Thr1557Ser)
|
rs1554820196
|
|
NM_015046.7(SETX):c.4675A>G (p.Lys1559Glu)
|
rs776238150
|
|
NM_015046.7(SETX):c.4679dup (p.Asn1560fs)
|
rs746973259
|
|
NM_015046.7(SETX):c.4684G>T (p.Gly1562Cys)
|
|
|
NM_015046.7(SETX):c.4694G>C (p.Cys1565Ser)
|
|
|
NM_015046.7(SETX):c.470A>G (p.Tyr157Cys)
|
|
|
NM_015046.7(SETX):c.4723G>T (p.Asp1575Tyr)
|
rs781383567
|
|
NM_015046.7(SETX):c.474G>A (p.Leu158=)
|
|
|
NM_015046.7(SETX):c.4753C>T (p.Pro1585Ser)
|
rs1846817047
|
|
NM_015046.7(SETX):c.4753CCT[2] (p.Pro1587del)
|
|
|
NM_015046.7(SETX):c.4816C>T (p.Arg1606Ter)
|
rs759213174
|
|
NM_015046.7(SETX):c.4819A>G (p.Ile1607Val)
|
|
|
NM_015046.7(SETX):c.4838C>A (p.Ser1613Tyr)
|
|
|
NM_015046.7(SETX):c.4847C>T (p.Thr1616Ile)
|
|
|
NM_015046.7(SETX):c.4848T>A (p.Thr1616=)
|
|
|
NM_015046.7(SETX):c.4850C>T (p.Ser1617Phe)
|
|
|
NM_015046.7(SETX):c.4890dup (p.Ile1631fs)
|
|
|
NM_015046.7(SETX):c.4898C>G (p.Ser1633Trp)
|
|
|
NM_015046.7(SETX):c.4898C>T (p.Ser1633Leu)
|
rs1022473091
|
|
NM_015046.7(SETX):c.4899G>A (p.Ser1633=)
|
|
|
NM_015046.7(SETX):c.4916A>G (p.Gln1639Arg)
|
rs150918808
|
|
NM_015046.7(SETX):c.4919C>T (p.Pro1640Leu)
|
|
|
NM_015046.7(SETX):c.4924C>A (p.Pro1642Thr)
|
rs375942182
|
|
NM_015046.7(SETX):c.4924_4947del (p.Pro1642_Val1649del)
|
|
|
NM_015046.7(SETX):c.4927C>T (p.Leu1643Phe)
|
|
|
NM_015046.7(SETX):c.4931T>C (p.Ile1644Thr)
|
|
|
NM_015046.7(SETX):c.4931_4932del (p.Ile1644fs)
|
rs2131428041
|
|
NM_015046.7(SETX):c.4934C>G (p.Ala1645Gly)
|
|
|
NM_015046.7(SETX):c.4945G>T (p.Val1649Phe)
|
|
|
NM_015046.7(SETX):c.4961A>G (p.Asn1654Ser)
|
|
|
NM_015046.7(SETX):c.4972G>A (p.Val1658Ile)
|
|
|
NM_015046.7(SETX):c.4978C>T (p.His1660Tyr)
|
|
|
NM_015046.7(SETX):c.498+10A>G
|
|
|
NM_015046.7(SETX):c.498+8dup
|
|
|
NM_015046.7(SETX):c.4983T>G (p.Pro1661=)
|
|
|
NM_015046.7(SETX):c.499-13_499-8dup
|
|
|
NM_015046.7(SETX):c.499-18_499-15del
|
|
|
NM_015046.7(SETX):c.499-8G>T
|
|
|
NM_015046.7(SETX):c.4991C>T (p.Pro1664Leu)
|
|
|
NM_015046.7(SETX):c.4992G>A (p.Pro1664=)
|
|
|
NM_015046.7(SETX):c.4992G>T (p.Pro1664=)
|
|
|
NM_015046.7(SETX):c.5003A>G (p.Asn1668Ser)
|
|
|
NM_015046.7(SETX):c.5006G>A (p.Arg1669Lys)
|
|
|
NM_015046.7(SETX):c.5011G>A (p.Gly1671Ser)
|
|
|
NM_015046.7(SETX):c.5019del (p.Val1674fs)
|
|
|
NM_015046.7(SETX):c.5024del (p.Pro1675fs)
|
rs1554820021
|
|
NM_015046.7(SETX):c.502C>T (p.Arg168Trp)
|
|
|
NM_015046.7(SETX):c.5042A>G (p.Tyr1681Cys)
|
|
|
NM_015046.7(SETX):c.5059C>G (p.Pro1687Ala)
|
|
|
NM_015046.7(SETX):c.5066A>G (p.Asn1689Ser)
|
|
|
NM_015046.7(SETX):c.5083C>T (p.Gln1695Ter)
|
rs1589734405
|
|
NM_015046.7(SETX):c.5097C>T (p.Asp1699=)
|
rs1163054039
|
|
NM_015046.7(SETX):c.5099C>T (p.Thr1700Ile)
|
|
|
NM_015046.7(SETX):c.5118A>C (p.Leu1706Phe)
|
|
|
NM_015046.7(SETX):c.5148T>C (p.Phe1716=)
|
|
|
NM_015046.7(SETX):c.5149G>A (p.Gly1717Ser)
|
|
|
NM_015046.7(SETX):c.5158G>T (p.Gly1720Trp)
|
|
|
NM_015046.7(SETX):c.5159G>C (p.Gly1720Ala)
|
|
|
NM_015046.7(SETX):c.5160G>T (p.Gly1720=)
|
rs763408913
|
|
NM_015046.7(SETX):c.5196T>C (p.Pro1732=)
|
|
|
NM_015046.7(SETX):c.5199G>A (p.Val1733=)
|
|
|
NM_015046.7(SETX):c.5211T>G (p.Phe1737Leu)
|
rs1846757741
|
|
NM_015046.7(SETX):c.5222dup (p.Asp1742fs)
|
rs730882209
|
|
NM_015046.7(SETX):c.5243dup (p.Leu1750fs)
|
rs754706851
|
|
NM_015046.7(SETX):c.5263A>G (p.Thr1755Ala)
|
|
|
NM_015046.7(SETX):c.5264del (p.Thr1755fs)
|
rs776632212
|
|
NM_015046.7(SETX):c.5267T>A (p.Phe1756Tyr)
|
rs762175796
|
|
NM_015046.7(SETX):c.5274+14T>C
|
|
|
NM_015046.7(SETX):c.5275-14del
|
rs761232500
|
|
NM_015046.7(SETX):c.5276del (p.Val1759fs)
|
|
|
NM_015046.7(SETX):c.528A>G (p.Arg176=)
|
|
|
NM_015046.7(SETX):c.5307A>G (p.Arg1769=)
|
|
|
NM_015046.7(SETX):c.5308_5311del (p.Glu1770fs)
|
rs750959420
|
|
NM_015046.7(SETX):c.5309A>G (p.Glu1770Gly)
|
|
|
NM_015046.7(SETX):c.5315T>C (p.Phe1772Ser)
|
rs886063552
|
|
NM_015046.7(SETX):c.5333G>A (p.Arg1778Gln)
|
|
|
NM_015046.7(SETX):c.5339T>A (p.Phe1780Tyr)
|
|
|
NM_015046.7(SETX):c.5347G>A (p.Asp1783Asn)
|
|
|
NM_015046.7(SETX):c.5362T>C (p.Trp1788Arg)
|
|
|
NM_015046.7(SETX):c.5362T>G (p.Trp1788Gly)
|
|
|
NM_015046.7(SETX):c.5374+1del
|
|
|
NM_015046.7(SETX):c.5374+20A>G
|
|
|
NM_015046.7(SETX):c.5375-18CTT[2]
|
rs201317659
|
|
NM_015046.7(SETX):c.5375-20G>T
|
|
|
NM_015046.7(SETX):c.5375-9G>A
|
|
|
NM_015046.7(SETX):c.5375-9G>C
|
rs1239409311
|
|
NM_015046.7(SETX):c.5378A>T (p.Tyr1793Phe)
|
|
|
NM_015046.7(SETX):c.5385A>C (p.Glu1795Asp)
|
|
|
NM_015046.7(SETX):c.5398G>A (p.Ala1800Thr)
|
|
|
NM_015046.7(SETX):c.5400T>C (p.Ala1800=)
|
|
|
NM_015046.7(SETX):c.5427T>G (p.Asp1809Glu)
|
|
|
NM_015046.7(SETX):c.5431G>C (p.Val1811Leu)
|
|
|
NM_015046.7(SETX):c.5443C>G (p.Pro1815Ala)
|
|
|
NM_015046.7(SETX):c.5453T>C (p.Ile1818Thr)
|
|
|
NM_015046.7(SETX):c.546C>T (p.Asp182=)
|
rs199748733
|
|
NM_015046.7(SETX):c.5488A>C (p.Ile1830Leu)
|
|
|
NM_015046.7(SETX):c.5491C>G (p.Gln1831Glu)
|
rs2131306081
|
|
NM_015046.7(SETX):c.5505A>G (p.Glu1835=)
|
rs2131305953
|
|
NM_015046.7(SETX):c.5505_5507dup (p.Tyr1836Ter)
|
|
|
NM_015046.7(SETX):c.5538C>G (p.Arg1846=)
|
|
|
NM_015046.7(SETX):c.5549-5G>A
|
|
|
NM_015046.7(SETX):c.5549-6T>C
|
|
|
NM_015046.7(SETX):c.5587A>T (p.Thr1863Ser)
|
|
|
NM_015046.7(SETX):c.5588C>T (p.Thr1863Ile)
|
|
|
NM_015046.7(SETX):c.5604G>A (p.Pro1868=)
|
rs373607369
|
|
NM_015046.7(SETX):c.5609A>G (p.Asn1870Ser)
|
|
|
NM_015046.7(SETX):c.5627A>G (p.Asn1876Ser)
|
|
|
NM_015046.7(SETX):c.5637A>T (p.Val1879=)
|
rs2131295454
|
|
NM_015046.7(SETX):c.5638A>G (p.Ile1880Val)
|
|
|
NM_015046.7(SETX):c.5667G>A (p.Lys1889=)
|
|
|
NM_015046.7(SETX):c.567A>G (p.Leu189=)
|
|
|
NM_015046.7(SETX):c.5696G>C (p.Arg1899Pro)
|
|
|
NM_015046.7(SETX):c.5737G>A (p.Asp1913Asn)
|
|
|
NM_015046.7(SETX):c.5754T>A (p.Asp1918Glu)
|
|
|
NM_015046.7(SETX):c.5754T>C (p.Asp1918=)
|
|
|
NM_015046.7(SETX):c.5761A>C (p.Thr1921Pro)
|
rs1844774142
|
|
NM_015046.7(SETX):c.5768C>G (p.Thr1923Arg)
|
|
|
NM_015046.7(SETX):c.5781+7G>A
|
|
|
NM_015046.7(SETX):c.5796A>G (p.Arg1932=)
|
|
|
NM_015046.7(SETX):c.5803A>G (p.Asn1935Asp)
|
rs1443102808
|
|
NM_015046.7(SETX):c.5809G>T (p.Asp1937Tyr)
|
rs1844714133
|
|
NM_015046.7(SETX):c.5809_5811delinsTAC (p.Asp1937Tyr)
|
rs1844713785
|
|
NM_015046.7(SETX):c.5821_5830del (p.Ala1941fs)
|
rs797045067
|
|
NM_015046.7(SETX):c.5824A>G (p.Ile1942Val)
|
|
|
NM_015046.7(SETX):c.5835A>G (p.Ala1945=)
|
rs1298267771
|
|
NM_015046.7(SETX):c.5840C>T (p.Ala1947Val)
|
|
|
NM_015046.7(SETX):c.5852A>T (p.His1951Leu)
|
|
|
NM_015046.7(SETX):c.5858C>T (p.Pro1953Leu)
|
|
|
NM_015046.7(SETX):c.5890C>T (p.Pro1964Ser)
|
rs1403263153
|
|
NM_015046.7(SETX):c.5893C>T (p.Pro1965Ser)
|
|
|
NM_015046.7(SETX):c.589T>A (p.Phe197Ile)
|
rs1847622210
|
|
NM_015046.7(SETX):c.58C>T (p.Arg20Cys)
|
|
|
NM_015046.7(SETX):c.590T>C (p.Phe197Ser)
|
rs1847622037
|
|
NM_015046.7(SETX):c.592A>G (p.Lys198Glu)
|
|
|
NM_015046.7(SETX):c.5933A>G (p.Tyr1978Cys)
|
|
|
NM_015046.7(SETX):c.5936G>C (p.Arg1979Pro)
|
rs761031238
|
|
NM_015046.7(SETX):c.5942T>G (p.Leu1981Arg)
|
|
|
NM_015046.7(SETX):c.5949+13G>A
|
|
|
NM_015046.7(SETX):c.5949+13G>T
|
rs2131289221
|
|
NM_015046.7(SETX):c.5949+4_5949+7del
|
rs1844702677
|
|
NM_015046.7(SETX):c.5949G>A (p.Glu1983=)
|
rs2131289331
|
|
NM_015046.7(SETX):c.5950-11G>A
|
|
|
NM_015046.7(SETX):c.5950-20G>A
|
|
|
NM_015046.7(SETX):c.5950-3T>C
|
|
|
NM_015046.7(SETX):c.5950-4G>A
|
|
|
NM_015046.7(SETX):c.5950-5T>C
|
|
|
NM_015046.7(SETX):c.5964G>A (p.Gly1988=)
|
rs775658101
|
|
NM_015046.7(SETX):c.5986G>T (p.Ala1996Ser)
|
rs2131284986
|
|
NM_015046.7(SETX):c.5994C>T (p.Ile1998=)
|
|
|
NM_015046.7(SETX):c.6017G>A (p.Cys2006Tyr)
|
rs200154603
|
|
NM_015046.7(SETX):c.6021A>G (p.Ala2007=)
|
|
|
NM_015046.7(SETX):c.6037G>A (p.Val2013Ile)
|
|
|
NM_015046.7(SETX):c.6038T>G (p.Val2013Gly)
|
rs797045068
|
|
NM_015046.7(SETX):c.6048C>G (p.Leu2016=)
|
|
|
NM_015046.7(SETX):c.6057A>G (p.Lys2019=)
|
|
|
NM_015046.7(SETX):c.60C>T (p.Arg20=)
|
rs553346505
|
|
NM_015046.7(SETX):c.6106+8A>G
|
rs1314479594
|
|
NM_015046.7(SETX):c.6106+8dup
|
|
|
NM_015046.7(SETX):c.6106G>C (p.Gly2036Arg)
|
rs863224919
|
|
NM_015046.7(SETX):c.6107-19C>T
|
|
|
NM_015046.7(SETX):c.6107-3C>T
|
|
|
NM_015046.7(SETX):c.6107-7T>A
|
rs766634428
|
|
NM_015046.7(SETX):c.6136C>T (p.Leu2046=)
|
|
|
NM_015046.7(SETX):c.6139G>T (p.Gly2047Cys)
|
rs762479596
|
|
NM_015046.7(SETX):c.6150G>A (p.Lys2050=)
|
|
|
NM_015046.7(SETX):c.6159T>C (p.Asn2053=)
|
rs2131248104
|
|
NM_015046.7(SETX):c.6171A>G (p.Leu2057=)
|
|
|
NM_015046.7(SETX):c.617A>C (p.Glu206Ala)
|
rs759880306
|
|
NM_015046.7(SETX):c.6181T>A (p.Leu2061Met)
|
rs2131247894
|
|
NM_015046.7(SETX):c.6205A>G (p.Met2069Val)
|
|
|
NM_015046.7(SETX):c.6208+17G>T
|
|
|
NM_015046.7(SETX):c.6208+2dup
|
|
|
NM_015046.7(SETX):c.6209-12T>G
|
|
|
NM_015046.7(SETX):c.6209-18_6209-15del
|
|
|
NM_015046.7(SETX):c.6209-19dup
|
|
|
NM_015046.7(SETX):c.6209-7_6209-6insG
|
rs2131246566
|
|
NM_015046.7(SETX):c.6215_6216del (p.Glu2072fs)
|
rs1564492117
|
|
NM_015046.7(SETX):c.6227A>C (p.His2076Pro)
|
|
|
NM_015046.7(SETX):c.6234G>C (p.Gln2078His)
|
|
|
NM_015046.7(SETX):c.6236C>T (p.Ala2079Val)
|
|
|
NM_015046.7(SETX):c.6268C>T (p.Gln2090Ter)
|
rs1844047388
|
|
NM_015046.7(SETX):c.6282T>C (p.Leu2094=)
|
|
|
NM_015046.7(SETX):c.62A>G (p.Tyr21Cys)
|
|
|
NM_015046.7(SETX):c.6300A>G (p.Leu2100=)
|
|
|
NM_015046.7(SETX):c.6314G>A (p.Arg2105Gln)
|
|
|
NM_015046.7(SETX):c.6322C>T (p.Gln2108Ter)
|
rs879253866
|
|
NM_015046.7(SETX):c.6323A>C (p.Gln2108Pro)
|
|
|
NM_015046.7(SETX):c.6324+5C>G
|
|
|
NM_015046.7(SETX):c.6325-20A>G
|
|
|
NM_015046.7(SETX):c.6325-5dup
|
|
|
NM_015046.7(SETX):c.6338A>T (p.Asp2113Val)
|
rs1589647043
|
|
NM_015046.7(SETX):c.6341A>G (p.Glu2114Gly)
|
rs957607977
|
|
NM_015046.7(SETX):c.6360T>A (p.Ser2120=)
|
|
|
NM_015046.7(SETX):c.6384T>A (p.Ser2128=)
|
rs2131234628
|
|
NM_015046.7(SETX):c.6390T>C (p.Ile2130=)
|
rs2131234539
|
|
NM_015046.7(SETX):c.6397-17A>C
|
|
|
NM_015046.7(SETX):c.6397-20T>C
|
|
|
NM_015046.7(SETX):c.6397-5C>G
|
|
|
NM_015046.7(SETX):c.6421dup (p.Gln2141fs)
|
|
|
NM_015046.7(SETX):c.6422dup (p.Ser2142fs)
|
|
|
NM_015046.7(SETX):c.6439G>C (p.Glu2147Gln)
|
rs1387036733
|
|
NM_015046.7(SETX):c.6441G>A (p.Glu2147=)
|
|
|
NM_015046.7(SETX):c.6448A>G (p.Ile2150Val)
|
|
|
NM_015046.7(SETX):c.6464T>G (p.Leu2155Trp)
|
rs1473613373
|
|
NM_015046.7(SETX):c.6486A>G (p.Leu2162=)
|
|
|
NM_015046.7(SETX):c.64G>T (p.Ala22Ser)
|
rs756600708
|
|
NM_015046.7(SETX):c.6502C>T (p.Arg2168Cys)
|
rs1843647719
|
|
NM_015046.7(SETX):c.6503G>A (p.Arg2168His)
|
|
|
NM_015046.7(SETX):c.6516T>G (p.Gly2172=)
|
|
|
NM_015046.7(SETX):c.6525C>T (p.Phe2175=)
|
|
|
NM_015046.7(SETX):c.6535A>G (p.Ile2179Val)
|
|
|
NM_015046.7(SETX):c.6547-11A>G
|
|
|
NM_015046.7(SETX):c.6547-15del
|
|
|
NM_015046.7(SETX):c.6554A>T (p.Gln2185Leu)
|
rs1843510567
|
|
NM_015046.7(SETX):c.6578C>G (p.Thr2193Ser)
|
|
|
NM_015046.7(SETX):c.6588C>T (p.Ile2196=)
|
|
|
NM_015046.7(SETX):c.6605T>G (p.Leu2202Arg)
|
|
|
NM_015046.7(SETX):c.6610C>T (p.Leu2204=)
|
rs2131200445
|
|
NM_015046.7(SETX):c.6635C>G (p.Pro2212Arg)
|
|
|
NM_015046.7(SETX):c.6637C>G (p.Pro2213Ala)
|
rs1843502057
|
|
NM_015046.7(SETX):c.6638C>T (p.Pro2213Leu)
|
rs28940290
|
|
NM_015046.7(SETX):c.6639G>A (p.Pro2213=)
|
|
|
NM_015046.7(SETX):c.6654+5G>A
|
rs1843497922
|
|
NM_015046.7(SETX):c.6654+9_6654+11del
|
|
|
NM_015046.7(SETX):c.6676G>A (p.Asp2226Asn)
|
|
|
NM_015046.7(SETX):c.667C>A (p.Leu223Ile)
|
rs774068411
|
|
NM_015046.7(SETX):c.667C>G (p.Leu223Val)
|
rs774068411
|
|
NM_015046.7(SETX):c.6683C>T (p.Ser2228Leu)
|
rs764541704
|
|
NM_015046.7(SETX):c.6685A>G (p.Met2229Val)
|
|
|
NM_015046.7(SETX):c.668T>A (p.Leu223His)
|
rs1211053963
|
|
NM_015046.7(SETX):c.6694C>T (p.Arg2232Cys)
|
rs759299299
|
|
NM_015046.7(SETX):c.6695G>A (p.Arg2232His)
|
|
|
NM_015046.7(SETX):c.6712G>A (p.Glu2238Lys)
|
rs2131182464
|
|
NM_015046.7(SETX):c.6729_6730del (p.His2243fs)
|
rs752122764
|
|
NM_015046.7(SETX):c.6733A>G (p.Met2245Val)
|
|
|
NM_015046.7(SETX):c.6756A>G (p.Leu2252=)
|
|
|
NM_015046.7(SETX):c.6764C>T (p.Thr2255Ile)
|
|
|
NM_015046.7(SETX):c.6790A>T (p.Ile2264Leu)
|
rs1843274414
|
|
NM_015046.7(SETX):c.6796C>G (p.Leu2266Val)
|
|
|
NM_015046.7(SETX):c.6808A>C (p.Asn2270His)
|
rs1843272035
|
|
NM_015046.7(SETX):c.6809A>G (p.Asn2270Ser)
|
|
|
NM_015046.7(SETX):c.6815T>C (p.Val2272Ala)
|
rs1843271572
|
|
NM_015046.7(SETX):c.682A>G (p.Met228Val)
|
|
|
NM_015046.7(SETX):c.6842+11dup
|
|
|
NM_015046.7(SETX):c.6842+15T>A
|
|
|
NM_015046.7(SETX):c.6842+19T>C
|
|
|
NM_015046.7(SETX):c.6842+1G>T
|
rs1038776365
|
|
NM_015046.7(SETX):c.6842+7T>A
|
|
|
NM_015046.7(SETX):c.6843-16dup
|
rs34769225
|
|
NM_015046.7(SETX):c.6843-18_6843-17del
|
|
|
NM_015046.7(SETX):c.6843-3_6843-1del
|
rs1186690391
|
|
NM_015046.7(SETX):c.6843-4A>T
|
rs1466427179
|
|
NM_015046.7(SETX):c.6843-5del
|
rs34769225
|
|
NM_015046.7(SETX):c.6843-6_6843-5dup
|
rs34769225
|
|
NM_015046.7(SETX):c.6849A>G (p.Thr2283=)
|
|
|
NM_015046.7(SETX):c.6853G>A (p.Ala2285Thr)
|
|
|
NM_015046.7(SETX):c.6859C>T (p.Arg2287Ter)
|
rs1339011741
|
|
NM_015046.7(SETX):c.6867A>C (p.Ser2289=)
|
|
|
NM_015046.7(SETX):c.6879A>G (p.Pro2293=)
|
|
|
NM_015046.7(SETX):c.68C>T (p.Ser23Phe)
|
rs1323126988
|
|
NM_015046.7(SETX):c.6926G>A (p.Arg2309Gln)
|
|
|
NM_015046.7(SETX):c.6931_6933del (p.Asn2311del)
|
|
|
NM_015046.7(SETX):c.6936-8T>A
|
|
|
NM_015046.7(SETX):c.6964C>G (p.Leu2322Val)
|
|
|
NM_015046.7(SETX):c.6967G>A (p.Val2323Met)
|
|
|
NM_015046.7(SETX):c.697A>T (p.Asn233Tyr)
|
|
|
NM_015046.7(SETX):c.6990T>G (p.Ile2330Met)
|
|
|
NM_015046.7(SETX):c.6996_7002del (p.Asp2332fs)
|
rs1362178149
|
|
NM_015046.7(SETX):c.7007A>T (p.Asp2336Val)
|
|
|
NM_015046.7(SETX):c.7041T>C (p.His2347=)
|
|
|
NM_015046.7(SETX):c.7059G>A (p.Thr2353=)
|
|
|
NM_015046.7(SETX):c.7074T>G (p.Asp2358Glu)
|
|
|
NM_015046.7(SETX):c.7079A>G (p.Asp2360Gly)
|
|
|
NM_015046.7(SETX):c.708C>T (p.Ser236=)
|
|
|
NM_015046.7(SETX):c.7090G>A (p.Asp2364Asn)
|
|
|
NM_015046.7(SETX):c.7100+19T>C
|
|
|
NM_015046.7(SETX):c.7100+2T>C
|
|
|
NM_015046.7(SETX):c.7100+3G>A
|
rs752203746
|
|
NM_015046.7(SETX):c.7100+7C>T
|
|
|
NM_015046.7(SETX):c.7101-16T>C
|
|
|
NM_015046.7(SETX):c.7121_7122del (p.Val2374fs)
|
rs765371601
|
|
NM_015046.7(SETX):c.7131C>T (p.Phe2377=)
|
|
|
NM_015046.7(SETX):c.7146G>A (p.Lys2382=)
|
rs2131148463
|
|
NM_015046.7(SETX):c.7149T>A (p.Asp2383Glu)
|
|
|
NM_015046.7(SETX):c.7151del (p.Cys2384fs)
|
|
|
NM_015046.7(SETX):c.7157T>C (p.Ile2386Thr)
|
rs201887051
|
|
NM_015046.7(SETX):c.7164G>A (p.Thr2388=)
|
rs368602563
|
|
NM_015046.7(SETX):c.7179T>C (p.Asn2393=)
|
|
|
NM_015046.7(SETX):c.718+11T>A
|
|
|
NM_015046.7(SETX):c.718+13C>T
|
|
|
NM_015046.7(SETX):c.718+16A>C
|
rs769647958
|
|
NM_015046.7(SETX):c.718+16A>G
|
|
|
NM_015046.7(SETX):c.718+18A>C
|
rs773630853
|
|
NM_015046.7(SETX):c.718+3G>C
|
rs2131504173
|
|
NM_015046.7(SETX):c.719-16C>T
|
|
|
NM_015046.7(SETX):c.719-17T>G
|
rs140720865
|
|
NM_015046.7(SETX):c.719-17dup
|
|
|
NM_015046.7(SETX):c.719-18C>T
|
|
|
NM_015046.7(SETX):c.7190G>A (p.Gly2397Asp)
|
rs2131148064
|
|
NM_015046.7(SETX):c.7195A>T (p.Ile2399Phe)
|
rs150489999
|
|
NM_015046.7(SETX):c.7199+14_7199+16del
|
|
|
NM_015046.7(SETX):c.7199+17G>T
|
rs768161524
|
|
NM_015046.7(SETX):c.719G>A (p.Gly240Asp)
|
rs1589757407
|
|
NM_015046.7(SETX):c.727A>G (p.Met243Val)
|
|
|
NM_015046.7(SETX):c.7288-14C>T
|
|
|
NM_015046.7(SETX):c.7292dup (p.Asn2431fs)
|
rs2131115543
|
|
NM_015046.7(SETX):c.7309C>G (p.Leu2437Val)
|
rs1564464665
|
|
NM_015046.7(SETX):c.7324C>T (p.Gln2442Ter)
|
|
|
NM_015046.7(SETX):c.7339A>C (p.Ile2447Leu)
|
|
|
NM_015046.7(SETX):c.7339A>T (p.Ile2447Phe)
|
|
|
NM_015046.7(SETX):c.7361A>C (p.Asn2454Thr)
|
|
|
NM_015046.7(SETX):c.7366A>G (p.Arg2456Gly)
|
|
|
NM_015046.7(SETX):c.7370A>G (p.His2457Arg)
|
rs753051382
|
|
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.7396A>C (p.Lys2466Gln)
|
|
|
NM_015046.7(SETX):c.7399C>G (p.Pro2467Ala)
|
rs2131114875
|
|
NM_015046.7(SETX):c.7427C>A (p.Pro2476His)
|
rs767515528
|
|
NM_015046.7(SETX):c.742C>T (p.Leu248Phe)
|
rs748358261
|
|
NM_015046.7(SETX):c.7433C>G (p.Thr2478Ser)
|
rs771027936
|
|
NM_015046.7(SETX):c.7444G>A (p.Glu2482Lys)
|
rs2131114345
|
|
NM_015046.7(SETX):c.7454G>A (p.Arg2485Lys)
|
|
|
NM_015046.7(SETX):c.7458C>G (p.Pro2486=)
|
rs2131114205
|
|
NM_015046.7(SETX):c.7461G>C (p.Gln2487His)
|
|
|
NM_015046.7(SETX):c.7482G>C (p.Lys2494Asn)
|
rs1564464193
|
|
NM_015046.7(SETX):c.7488C>G (p.Asp2496Glu)
|
|
|
NM_015046.7(SETX):c.7494A>C (p.Gly2498=)
|
rs1404779640
|
|
NM_015046.7(SETX):c.7508C>G (p.Ser2503Cys)
|
|
|
NM_015046.7(SETX):c.7516G>A (p.Ala2506Thr)
|
rs1160553456
|
|
NM_015046.7(SETX):c.7528C>T (p.His2510Tyr)
|
|
|
NM_015046.7(SETX):c.7530C>G (p.His2510Gln)
|
rs1303389955
|
|
NM_015046.7(SETX):c.7532C>T (p.Thr2511Ile)
|
|
|
NM_015046.7(SETX):c.7534C>T (p.Pro2512Ser)
|
rs557347174
|
|
NM_015046.7(SETX):c.7549G>A (p.Glu2517Lys)
|
|
|
NM_015046.7(SETX):c.7552A>G (p.Ile2518Val)
|
|
|
NM_015046.7(SETX):c.7568C>T (p.Thr2523Ile)
|
|
|
NM_015046.7(SETX):c.7571C>T (p.Ser2524Leu)
|
|
|
NM_015046.7(SETX):c.7582G>A (p.Glu2528Lys)
|
rs2131113325
|
|
NM_015046.7(SETX):c.7584A>C (p.Glu2528Asp)
|
rs2131113303
|
|
NM_015046.7(SETX):c.7585A>G (p.Arg2529Gly)
|
|
|
NM_015046.7(SETX):c.75T>G (p.Thr25=)
|
rs1589791526
|
|
NM_015046.7(SETX):c.7610A>G (p.Gln2537Arg)
|
rs2131113093
|
|
NM_015046.7(SETX):c.7634T>A (p.Met2545Lys)
|
|
|
NM_015046.7(SETX):c.7637del (p.Gly2546fs)
|
|
|
NM_015046.7(SETX):c.763T>A (p.Ser255Thr)
|
|
|
NM_015046.7(SETX):c.7641dup (p.Glu2548Ter)
|
rs1039417117
|
|
NM_015046.7(SETX):c.7648A>G (p.Lys2550Glu)
|
rs1842546596
|
|
NM_015046.7(SETX):c.7660T>C (p.Phe2554Leu)
|
rs368269464
|
|
NM_015046.7(SETX):c.7667G>T (p.Trp2556Leu)
|
|
|
NM_015046.7(SETX):c.7680C>A (p.Pro2560=)
|
|
|
NM_015046.7(SETX):c.7686C>T (p.Ser2562=)
|
|
|
NM_015046.7(SETX):c.7708CCT[1] (p.Pro2571del)
|
rs770590408
|
|
NM_015046.7(SETX):c.7709C>T (p.Pro2570Leu)
|
|
|
NM_015046.7(SETX):c.7712C>G (p.Pro2571Arg)
|
|
|
NM_015046.7(SETX):c.7713T>C (p.Pro2571=)
|
rs2131112226
|
|
NM_015046.7(SETX):c.7716G>A (p.Thr2572=)
|
|
|
NM_015046.7(SETX):c.7725G>A (p.Pro2575=)
|
rs201695580
|
|
NM_015046.7(SETX):c.7725G>C (p.Pro2575=)
|
|
|
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.7736T>G (p.Val2579Gly)
|
rs2131112014
|
|
NM_015046.7(SETX):c.7749C>T (p.Asp2583=)
|
rs754701648
|
|
NM_015046.7(SETX):c.7750C>G (p.Leu2584Val)
|
|
|
NM_015046.7(SETX):c.7750C>T (p.Leu2584=)
|
rs1842537896
|
|
NM_015046.7(SETX):c.7763A>G (p.Gln2588Arg)
|
|
|
NM_015046.7(SETX):c.7764G>A (p.Gln2588=)
|
|
|
NM_015046.7(SETX):c.7764_7765delinsTT (p.Gln2588_Gln2589delinsHisTer)
|
rs2131111712
|
|
NM_015046.7(SETX):c.7775C>T (p.Ala2592Val)
|
rs1842534708
|
|
NM_015046.7(SETX):c.7786G>T (p.Ala2596Ser)
|
|
|
NM_015046.7(SETX):c.778T>A (p.Ser260Thr)
|
|
|
NM_015046.7(SETX):c.77C>G (p.Pro26Arg)
|
rs377617692
|
|
NM_015046.7(SETX):c.7810G>A (p.Val2604Met)
|
rs757554863
|
|
NM_015046.7(SETX):c.7810G>T (p.Val2604Leu)
|
|
|
NM_015046.7(SETX):c.7813C>T (p.Arg2605Trp)
|
|
|
NM_015046.7(SETX):c.7825C>G (p.Pro2609Ala)
|
rs765888424
|
|
NM_015046.7(SETX):c.7840G>A (p.Glu2614Lys)
|
|
|
NM_015046.7(SETX):c.7843G>A (p.Ala2615Thr)
|
rs979454428
|
|
NM_015046.7(SETX):c.784A>G (p.Lys262Glu)
|
rs2131492208
|
|
NM_015046.7(SETX):c.7850C>T (p.Thr2617Met)
|
|
|
NM_015046.7(SETX):c.7856A>G (p.Gln2619Arg)
|
rs1421049695
|
|
NM_015046.7(SETX):c.7857G>A (p.Gln2619=)
|
|
|
NM_015046.7(SETX):c.785A>G (p.Lys262Arg)
|
rs770255148
|
|
NM_015046.7(SETX):c.7860C>A (p.Ser2620Arg)
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rs778362262
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NM_015046.7(SETX):c.7872C>T (p.Asp2624=)
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NM_015046.7(SETX):c.7875G>A (p.Pro2625=)
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rs536241867
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NM_015046.7(SETX):c.7881G>A (p.Glu2627=)
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NM_015046.7(SETX):c.7895G>T (p.Arg2632Met)
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NM_015046.7(SETX):c.7924_7925delinsTT (p.Glu2642Leu)
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NM_015046.7(SETX):c.7928A>G (p.Gln2643Arg)
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rs1842518697
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NM_015046.7(SETX):c.792T>C (p.Asn264=)
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NM_015046.7(SETX):c.7941T>C (p.Gly2647=)
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rs1471003365
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NM_015046.7(SETX):c.7944C>T (p.Ser2648=)
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NM_015046.7(SETX):c.7945G>A (p.Glu2649Lys)
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NM_015046.7(SETX):c.7948_7961del (p.Thr2650fs)
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NM_015046.7(SETX):c.794A>G (p.Asp265Gly)
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NM_015046.7(SETX):c.7984del (p.Arg2662fs)
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rs2131109788
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NM_015046.7(SETX):c.8016G>A (p.Lys2672=)
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NM_015046.7(SETX):c.8022_8025del (p.Arg2674fs)
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NM_015046.7(SETX):c.8030dup (p.Leu2677fs)
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NM_015046.7(SETX):c.8031A>T (p.Leu2677Phe)
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rs749325764
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NM_015046.7(SETX):c.80C>T (p.Ser27Phe)
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NM_015046.7(SETX):c.823G>C (p.Glu275Gln)
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rs901741485
|
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NM_015046.7(SETX):c.838+10T>G
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rs2131491563
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NM_015046.7(SETX):c.839-12A>C
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NM_015046.7(SETX):c.839-14C>T
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NM_015046.7(SETX):c.839-20A>G
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NM_015046.7(SETX):c.878T>G (p.Phe293Cys)
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NM_015046.7(SETX):c.879T>C (p.Phe293=)
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NM_015046.7(SETX):c.889C>T (p.Leu297=)
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NM_015046.7(SETX):c.896G>A (p.Arg299His)
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NM_015046.7(SETX):c.912C>T (p.Val304=)
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rs1473756878
|
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NM_015046.7(SETX):c.928G>A (p.Asp310Asn)
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NM_015046.7(SETX):c.92A>G (p.Gln31Arg)
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NM_015046.7(SETX):c.93A>C (p.Gln31His)
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NM_015046.7(SETX):c.951C>T (p.Thr317=)
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rs1025452911
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NM_015046.7(SETX):c.973A>G (p.Asn325Asp)
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NM_015046.7(SETX):c.988C>T (p.His330Tyr)
|
rs1847220041
|
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