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.7101A>G (p.Gly2367=)
|
rs79233884
|
0.00141
|
NM_015046.7(SETX):c.-70T>C
|
rs72765839
|
0.00131
|
NM_015046.7(SETX):c.3809C>T (p.Pro1270Leu)
|
rs144334281
|
0.00122
|
NM_015046.7(SETX):c.3229G>A (p.Asp1077Asn)
|
rs145097270
|
0.00105
|
NM_015046.7(SETX):c.192A>G (p.Leu64=)
|
rs117326462
|
0.00078
|
NM_015046.7(SETX):c.5949+5G>A
|
rs374656811
|
0.00078
|
NM_015046.7(SETX):c.717A>G (p.Leu239=)
|
rs147125311
|
0.00076
|
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.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.3826C>G (p.Gln1276Glu)
|
rs148604312
|
0.00039
|
NM_015046.7(SETX):c.654G>C (p.Lys218Asn)
|
rs117861188
|
0.00039
|
NM_015046.7(SETX):c.1693T>C (p.Phe565Leu)
|
rs143982186
|
0.00037
|
NM_015046.7(SETX):c.5283A>G (p.Gln1761=)
|
rs139063885
|
0.00036
|
NM_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.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.*891T>C
|
rs573743210
|
0.00025
|
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.*988G>A
|
rs182693244
|
0.00021
|
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.7787C>T (p.Ala2596Val)
|
rs200507089
|
0.00019
|
NM_015046.7(SETX):c.7991T>C (p.Leu2664Pro)
|
rs143798689
|
0.00019
|
NM_015046.7(SETX):c.1066G>A (p.Val356Ile)
|
rs143270460
|
0.00016
|
NM_015046.7(SETX):c.7195A>G (p.Ile2399Val)
|
rs150489999
|
0.00016
|
NM_015046.7(SETX):c.7100+9T>C
|
rs200088320
|
0.00015
|
NM_015046.7(SETX):c.3992C>T (p.Pro1331Leu)
|
rs11243731
|
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.4511A>G (p.Glu1504Gly)
|
rs781275166
|
0.00012
|
NM_015046.7(SETX):c.3090T>C (p.Leu1030=)
|
rs368677513
|
0.00011
|
NM_015046.7(SETX):c.1504C>T (p.Arg502Trp)
|
rs534723946
|
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.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.1221A>G (p.Thr407=)
|
rs377618570
|
0.00008
|
NM_015046.7(SETX):c.1374T>G (p.Phe458Leu)
|
rs201441886
|
0.00008
|
NM_015046.7(SETX):c.3103A>G (p.Lys1035Glu)
|
rs117229601
|
0.00008
|
NM_015046.7(SETX):c.5271A>G (p.Glu1757=)
|
rs200499115
|
0.00008
|
NM_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.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.1880T>C (p.Met627Thr)
|
rs199707503
|
0.00006
|
NM_015046.7(SETX):c.234G>A (p.Lys78=)
|
rs146206138
|
0.00006
|
NM_015046.7(SETX):c.2717C>T (p.Ser906Leu)
|
rs148375192
|
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.5537G>A (p.Arg1846His)
|
rs373571937
|
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.768G>T (p.Leu256=)
|
rs759468738
|
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.4225A>T (p.Asn1409Tyr)
|
rs373375060
|
0.00005
|
NM_015046.7(SETX):c.4865C>T (p.Pro1622Leu)
|
rs140781535
|
0.00005
|
NM_015046.7(SETX):c.7406T>C (p.Leu2469Pro)
|
rs151304085
|
0.00005
|
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.2176T>C (p.Cys726Arg)
|
rs377734748
|
0.00004
|
NM_015046.7(SETX):c.2490A>C (p.Gly830=)
|
rs751429987
|
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.3115A>G (p.Ile1039Val)
|
rs372529790
|
0.00004
|
NM_015046.7(SETX):c.3968G>A (p.Arg1323Gln)
|
rs369542231
|
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.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.7741C>T (p.His2581Tyr)
|
rs530686162
|
0.00004
|
NM_015046.7(SETX):c.9A>G (p.Thr3=)
|
rs139681694
|
0.00004
|
NM_015046.7(SETX):c.2390A>G (p.Lys797Arg)
|
rs1273786747
|
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.3117A>G (p.Ile1039Met)
|
rs886063555
|
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.4417C>T (p.Arg1473Cys)
|
rs781185115
|
0.00003
|
NM_015046.7(SETX):c.5591A>C (p.Gln1864Pro)
|
rs375747001
|
0.00003
|
NM_015046.7(SETX):c.5781+9T>C
|
rs772671321
|
0.00003
|
NM_015046.7(SETX):c.6085A>G (p.Lys2029Glu)
|
rs746525639
|
0.00003
|
NM_015046.7(SETX):c.6396+8G>C
|
rs752365500
|
0.00003
|
NM_015046.7(SETX):c.6829T>C (p.Leu2277=)
|
rs189444354
|
0.00003
|
NM_015046.7(SETX):c.710A>G (p.Tyr237Cys)
|
rs138538492
|
0.00003
|
NM_015046.7(SETX):c.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.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.2439A>C (p.Glu813Asp)
|
rs190841601
|
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.343C>G (p.Leu115Val)
|
rs538372427
|
0.00002
|
NM_015046.7(SETX):c.3605A>G (p.Asp1202Gly)
|
rs138167195
|
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.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.5403A>C (p.Lys1801Asn)
|
rs762071010
|
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.6029A>G (p.Asn2010Ser)
|
rs759806045
|
0.00002
|
NM_015046.7(SETX):c.6356T>C (p.Val2119Ala)
|
rs781741533
|
0.00002
|
NM_015046.7(SETX):c.7089C>T (p.Phe2363=)
|
rs141497098
|
0.00002
|
NM_015046.7(SETX):c.7330C>T (p.Arg2444Cys)
|
rs372535542
|
0.00002
|
NM_015046.7(SETX):c.7967A>G (p.Asn2656Ser)
|
rs745394467
|
0.00002
|
NM_015046.7(SETX):c.895C>T (p.Arg299Cys)
|
rs777182592
|
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.1086A>C (p.Glu362Asp)
|
rs768198537
|
0.00001
|
NM_015046.7(SETX):c.1204C>T (p.Arg402Cys)
|
rs772044862
|
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.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.2125A>G (p.Thr709Ala)
|
rs750530263
|
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.2779A>G (p.Met927Val)
|
rs886063556
|
0.00001
|
NM_015046.7(SETX):c.2788A>G (p.Ser930Gly)
|
rs770694223
|
0.00001
|
NM_015046.7(SETX):c.2934C>T (p.Ser978=)
|
rs144154512
|
0.00001
|
NM_015046.7(SETX):c.3028C>T (p.Arg1010Cys)
|
rs766799023
|
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.3221A>G (p.Glu1074Gly)
|
rs752140967
|
0.00001
|
NM_015046.7(SETX):c.3332T>G (p.Leu1111Trp)
|
rs1564541841
|
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.36T>C (p.Ala12=)
|
rs1198947358
|
0.00001
|
NM_015046.7(SETX):c.3813A>G (p.Pro1271=)
|
rs759945253
|
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.4045C>G (p.Gln1349Glu)
|
rs146407699
|
0.00001
|
NM_015046.7(SETX):c.4114G>C (p.Asp1372His)
|
rs1564539457
|
0.00001
|
NM_015046.7(SETX):c.4297A>G (p.Thr1433Ala)
|
rs1038733632
|
0.00001
|
NM_015046.7(SETX):c.4563A>G (p.Glu1521=)
|
rs374149839
|
0.00001
|
NM_015046.7(SETX):c.4707T>C (p.Ser1569=)
|
rs769964668
|
0.00001
|
NM_015046.7(SETX):c.4989T>A (p.Ser1663=)
|
rs185338915
|
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.5501A>G (p.His1834Arg)
|
rs770822383
|
0.00001
|
NM_015046.7(SETX):c.5503G>A (p.Glu1835Lys)
|
rs143133190
|
0.00001
|
NM_015046.7(SETX):c.5697G>A (p.Arg1899=)
|
rs765849036
|
0.00001
|
NM_015046.7(SETX):c.571G>A (p.Glu191Lys)
|
rs929798338
|
0.00001
|
NM_015046.7(SETX):c.5786C>T (p.Ala1929Val)
|
rs200571606
|
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.5936G>A (p.Arg1979His)
|
rs761031238
|
0.00001
|
NM_015046.7(SETX):c.5950-14G>A
|
rs375632375
|
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.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.7417C>G (p.Leu2473Val)
|
rs760196991
|
0.00001
|
NM_015046.7(SETX):c.7473C>T (p.Pro2491=)
|
rs1173009713
|
0.00001
|
NM_015046.7(SETX):c.7590T>A (p.Pro2530=)
|
rs1374204163
|
0.00001
|
NM_015046.7(SETX):c.7771G>A (p.Ala2591Thr)
|
rs146862359
|
0.00001
|
NM_015046.7(SETX):c.7814G>A (p.Arg2605Gln)
|
rs543247171
|
0.00001
|
NM_015046.7(SETX):c.866C>T (p.Ala289Val)
|
rs1237541645
|
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.(135164039_135171258)_(135176191_135187143)del
|
|
|
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.*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.1011-2A>G
|
|
|
NM_015046.7(SETX):c.1110G>A (p.Trp370Ter)
|
rs2131463657
|
|
NM_015046.7(SETX):c.1165_1167del (p.Leu389del)
|
rs2131463325
|
|
NM_015046.7(SETX):c.1166T>C (p.Leu389Ser)
|
rs29001584
|
|
NM_015046.7(SETX):c.1167A>C (p.Leu389Phe)
|
rs2131463306
|
|
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.1358A>G (p.Lys453Arg)
|
rs886063559
|
|
NM_015046.7(SETX):c.1427_1432del (p.His476_Leu477del)
|
rs777314512
|
|
NM_015046.7(SETX):c.152G>A (p.Arg51Lys)
|
rs777256092
|
|
NM_015046.7(SETX):c.156T>C (p.Asp52=)
|
rs1848476611
|
|
NM_015046.7(SETX):c.1583C>T (p.Ser528Phe)
|
|
|
NM_015046.7(SETX):c.1621A>G (p.Ser541Gly)
|
|
|
NM_015046.7(SETX):c.1922C>G (p.Ser641Cys)
|
rs886063557
|
|
NM_015046.7(SETX):c.1993G>C (p.Glu665Gln)
|
rs1339144218
|
|
NM_015046.7(SETX):c.2517C>T (p.His839=)
|
rs1464623855
|
|
NM_015046.7(SETX):c.2533C>T (p.Pro845Ser)
|
rs1847046317
|
|
NM_015046.7(SETX):c.2698A>G (p.Thr900Ala)
|
rs1320466105
|
|
NM_015046.7(SETX):c.2849C>A (p.Ser950Tyr)
|
rs1847020598
|
|
NM_015046.7(SETX):c.2958G>A (p.Gln986=)
|
rs969060686
|
|
NM_015046.7(SETX):c.3021T>A (p.Asp1007Glu)
|
rs1847007637
|
|
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.3162_3167del (p.Asn1054_Ser1055del)
|
rs576141809
|
|
NM_015046.7(SETX):c.32G>A (p.Gly11Asp)
|
rs886063560
|
|
NM_015046.7(SETX):c.3350C>T (p.Thr1117Ile)
|
rs1564541749
|
|
NM_015046.7(SETX):c.3376T>G (p.Tyr1126Asp)
|
rs907569728
|
|
NM_015046.7(SETX):c.3497A>G (p.Glu1166Gly)
|
rs1554820858
|
|
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.3890A>T (p.Tyr1297Phe)
|
|
|
NM_015046.7(SETX):c.3950T>C (p.Val1317Ala)
|
rs1564539968
|
|
NM_015046.7(SETX):c.397T>G (p.Cys133Gly)
|
rs766625711
|
|
NM_015046.7(SETX):c.4053A>G (p.Gln1351=)
|
rs886063553
|
|
NM_015046.7(SETX):c.4316T>C (p.Leu1439Ser)
|
rs1589737441
|
|
NM_015046.7(SETX):c.4336G>T (p.Val1446Leu)
|
rs1477696040
|
|
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.4517T>C (p.Met1506Thr)
|
rs199974622
|
|
NM_015046.7(SETX):c.4559T>C (p.Ile1520Thr)
|
|
|
NM_015046.7(SETX):c.4613G>A (p.Arg1538Gln)
|
|
|
NM_015046.7(SETX):c.4898C>T (p.Ser1633Leu)
|
rs1022473091
|
|
NM_015046.7(SETX):c.4924C>A (p.Pro1642Thr)
|
rs375942182
|
|
NM_015046.7(SETX):c.4934C>G (p.Ala1645Gly)
|
|
|
NM_015046.7(SETX):c.5054C>G (p.Ser1685Cys)
|
rs1846780010
|
|
NM_015046.7(SETX):c.5065A>T (p.Asn1689Tyr)
|
rs2131426426
|
|
NM_015046.7(SETX):c.5267T>A (p.Phe1756Tyr)
|
rs762175796
|
|
NM_015046.7(SETX):c.5315T>C (p.Phe1772Ser)
|
rs886063552
|
|
NM_015046.7(SETX):c.5375-18CTT[2]
|
rs201317659
|
|
NM_015046.7(SETX):c.5693G>A (p.Ser1898Asn)
|
|
|
NM_015046.7(SETX):c.5809G>T (p.Asp1937Tyr)
|
rs1844714133
|
|
NM_015046.7(SETX):c.58C>T (p.Arg20Cys)
|
|
|
NM_015046.7(SETX):c.60C>T (p.Arg20=)
|
rs553346505
|
|
NM_015046.7(SETX):c.6106+8A>G
|
rs1314479594
|
|
NM_015046.7(SETX):c.6205A>G (p.Met2069Val)
|
|
|
NM_015046.7(SETX):c.6292C>T (p.Arg2098Ter)
|
rs770684782
|
|
NM_015046.7(SETX):c.6407G>A (p.Arg2136His)
|
rs121434378
|
|
NM_015046.7(SETX):c.6635C>G (p.Pro2212Arg)
|
|
|
NM_015046.7(SETX):c.667C>A (p.Leu223Ile)
|
rs774068411
|
|
NM_015046.7(SETX):c.668T>A (p.Leu223His)
|
rs1211053963
|
|
NM_015046.7(SETX):c.6733A>G (p.Met2245Val)
|
|
|
NM_015046.7(SETX):c.6843-16dup
|
rs34769225
|
|
NM_015046.7(SETX):c.6843-5del
|
rs34769225
|
|
NM_015046.7(SETX):c.6996_7002del (p.Asp2332fs)
|
rs1362178149
|
|
NM_015046.7(SETX):c.7100+3G>A
|
rs752203746
|
|
NM_015046.7(SETX):c.7157T>C (p.Ile2386Thr)
|
rs201887051
|
|
NM_015046.7(SETX):c.7360A>G (p.Asn2454Asp)
|
|
|
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.7488C>G (p.Asp2496Glu)
|
|
|
NM_015046.7(SETX):c.7648A>G (p.Lys2550Glu)
|
rs1842546596
|
|
NM_015046.7(SETX):c.7708CCT[1] (p.Pro2571del)
|
rs770590408
|
|
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.7749C>T (p.Asp2583=)
|
rs754701648
|
|
NM_015046.7(SETX):c.7750C>T (p.Leu2584=)
|
rs1842537896
|
|
NM_015046.7(SETX):c.7775C>T (p.Ala2592Val)
|
rs1842534708
|
|
NM_015046.7(SETX):c.77C>G (p.Pro26Arg)
|
rs377617692
|
|
NM_015046.7(SETX):c.7825C>G (p.Pro2609Ala)
|
rs765888424
|
|
NM_015046.7(SETX):c.7856A>G (p.Gln2619Arg)
|
rs1421049695
|
|
NM_015046.7(SETX):c.7875G>A (p.Pro2625=)
|
rs536241867
|
|
NM_015046.7(SETX):c.7948_7961del (p.Thr2650fs)
|
|
|
NM_015046.7(SETX):c.8C>T (p.Thr3Ile)
|
rs28941475
|
|
NM_015046.7(SETX):c.988C>T (p.His330Tyr)
|
rs1847220041
|
|