NM_015046.7(SETX):c.388+51C>T
|
rs497650
|
0.99588
|
NM_015046.7(SETX):c.839-144T>C
|
rs580964
|
0.90346
|
NM_015046.7(SETX):c.1098+208C>T
|
rs9411448
|
0.89769
|
NM_015046.7(SETX):c.3576T>G (p.Asp1192Glu)
|
rs1185193
|
0.76694
|
NM_015046.7(SETX):c.1077T>C (p.Tyr359=)
|
rs9411449
|
0.75774
|
NM_015046.7(SETX):c.719-210T>G
|
rs573913
|
0.69538
|
NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg)
|
rs1183768
|
0.68476
|
NM_015046.7(SETX):c.4156A>G (p.Ile1386Val)
|
rs543573
|
0.68049
|
NM_015046.7(SETX):c.6547-287G>T
|
rs10441804
|
0.44540
|
NM_015046.7(SETX):c.7759A>G (p.Ile2587Val)
|
rs1056899
|
0.44536
|
NM_015046.7(SETX):c.6655-24G>A
|
rs11243704
|
0.44367
|
NM_015046.7(SETX):c.389-157T>C
|
rs514279
|
0.42979
|
NM_015046.7(SETX):c.5563A>G (p.Thr1855Ala)
|
rs2296871
|
0.31596
|
NM_015046.7(SETX):c.5811T>C (p.Asp1937=)
|
rs2296869
|
0.31585
|
NM_015046.7(SETX):c.5949+111A>G
|
rs2296868
|
0.31582
|
NM_015046.7(SETX):c.5549-59C>A
|
rs6597570
|
0.31568
|
NM_015046.7(SETX):c.5782-224G>C
|
rs2296870
|
0.29779
|
NM_015046.7(SETX):c.5374+16C>T
|
rs2296872
|
0.24325
|
NM_015046.7(SETX):c.5549-250G>C
|
rs7875226
|
0.24281
|
NM_015046.7(SETX):c.5781+12dup
|
rs3831154
|
0.24271
|
NM_015046.7(SETX):c.5549-193A>G
|
rs6597571
|
0.24266
|
NM_015046.7(SETX):c.6654+215A>G
|
rs3736997
|
0.18239
|
NM_015046.7(SETX):c.6842+302C>T
|
rs13285992
|
0.17880
|
NM_015046.7(SETX):c.7199+104T>C
|
rs7046688
|
0.17775
|
NM_015046.7(SETX):c.6936-100C>A
|
rs2296867
|
0.16552
|
NM_015046.7(SETX):c.*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.7100+182T>G
|
rs17148869
|
0.16201
|
NM_015046.7(SETX):c.6654+152T>A
|
rs3736998
|
0.16154
|
NM_015046.7(SETX):c.498+268A>G
|
rs11790705
|
0.15078
|
NM_015046.7(SETX):c.6655-29A>G
|
rs11243705
|
0.14272
|
NM_015046.7(SETX):c.1979C>G (p.Ala660Gly)
|
rs882709
|
0.12168
|
NM_015046.7(SETX):c.6655-237T>C
|
rs113154441
|
0.10176
|
NM_015046.7(SETX):c.*2262A>G
|
rs997784
|
0.09345
|
NM_015046.7(SETX):c.6935+8T>C
|
rs17148873
|
0.09319
|
NM_015046.7(SETX):c.6655-309A>G
|
rs78084433
|
0.09258
|
NM_015046.7(SETX):c.389-142C>A
|
rs13294324
|
0.09257
|
NM_015046.7(SETX):c.5949+220C>T
|
rs58808218
|
0.08527
|
NM_015046.7(SETX):c.7834A>G (p.Ser2612Gly)
|
rs3739927
|
0.08329
|
NM_015046.7(SETX):c.6106+258A>G
|
rs73661156
|
0.07699
|
NM_015046.7(SETX):c.3147C>T (p.His1049=)
|
rs3739921
|
0.07515
|
NM_015046.7(SETX):c.6546+32T>A
|
rs2296873
|
0.07069
|
NM_015046.7(SETX):c.6546+321T>C
|
rs2296875
|
0.07067
|
NM_015046.7(SETX):c.6546+108C>G
|
rs2296874
|
0.06821
|
NM_015046.7(SETX):c.6936-315C>T
|
rs77811978
|
0.06714
|
NM_015046.7(SETX):c.*1365G>T
|
rs7875801
|
0.06684
|
NM_015046.7(SETX):c.6842+221A>G
|
rs7025628
|
0.06495
|
NM_015046.7(SETX):c.5949+253C>T
|
rs75403090
|
0.05668
|
NM_015046.7(SETX):c.498+30T>C
|
rs11790312
|
0.05653
|
NM_015046.7(SETX):c.5549-172C>T
|
rs7874311
|
0.05320
|
NM_015046.7(SETX):c.1099-73T>C
|
rs1011378
|
0.05059
|
NM_015046.7(SETX):c.178-209T>C
|
rs11243734
|
0.04747
|
NM_015046.7(SETX):c.7288-60A>G
|
rs76392709
|
0.04746
|
NM_015046.7(SETX):c.3455T>G (p.Phe1152Cys)
|
rs3739922
|
0.04708
|
NM_015046.7(SETX):c.6396+80A>G
|
rs59825291
|
0.04291
|
NM_015046.7(SETX):c.7199+255G>A
|
rs112275403
|
0.04204
|
NM_015046.7(SETX):c.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.5274+46A>T
|
rs61739429
|
0.01710
|
NM_015046.7(SETX):c.6547-164G>A
|
rs12336849
|
0.01647
|
NM_015046.7(SETX):c.3182C>T (p.Pro1061Leu)
|
rs12352982
|
0.01591
|
NM_015046.7(SETX):c.6324+195G>A
|
rs115107300
|
0.01544
|
NM_015046.7(SETX):c.2975A>G (p.Lys992Arg)
|
rs61742937
|
0.01445
|
NM_015046.7(SETX):c.6507G>A (p.Gly2169=)
|
rs34073320
|
0.01300
|
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.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.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.2216G>A (p.Gly739Glu)
|
rs36024203
|
0.00293
|
NM_015046.7(SETX):c.4660T>G (p.Cys1554Gly)
|
rs112089123
|
0.00250
|
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.3809C>T (p.Pro1270Leu)
|
rs144334281
|
0.00122
|
NM_015046.7(SETX):c.3010A>G (p.Asn1004Asp)
|
rs77984885
|
0.00075
|
NM_015046.7(SETX):c.7914C>T (p.Phe2638=)
|
rs80296256
|
0.00051
|
NM_015046.7(SETX):c.3826C>G (p.Gln1276Glu)
|
rs148604312
|
0.00039
|
NM_015046.7(SETX):c.1693T>C (p.Phe565Leu)
|
rs143982186
|
0.00037
|
NM_015046.7(SETX):c.4612C>T (p.Arg1538Trp)
|
rs147018359
|
0.00035
|
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.3968G>A (p.Arg1323Gln)
|
rs369542231
|
0.00004
|
NM_015046.7(SETX):c.6829T>C (p.Leu2277=)
|
rs189444354
|
0.00003
|
NM_015046.7(SETX):c.7818C>T (p.Gly2606=)
|
rs764270386
|
0.00003
|
NM_015046.7(SETX):c.5535C>T (p.Arg1845=)
|
rs200433173
|
0.00002
|
NM_015046.7(SETX):c.*1368G>A
|
rs7025
|
|
NM_015046.7(SETX):c.*430dup
|
rs1245820302
|
|
NM_015046.7(SETX):c.*431_*432del
|
rs112251805
|
|
NM_015046.7(SETX):c.-8+134dup
|
rs80205458
|
|
NM_015046.7(SETX):c.-8+143del
|
rs80205458
|
|
NM_015046.7(SETX):c.-8+8dup
|
rs66524976
|
|
NM_015046.7(SETX):c.1099-142A>G
|
rs1536662
|
|
NM_015046.7(SETX):c.3651G>T (p.Thr1217=)
|
rs111419285
|
|
NM_015046.7(SETX):c.389-243C>T
|
rs74311565
|
|
NM_015046.7(SETX):c.5375-18CTT[2]
|
rs201317659
|
|
NM_015046.7(SETX):c.5375-297_5375-286del
|
rs200657740
|
|
NM_015046.7(SETX):c.5782-129_5782-125del
|
rs61398915
|
|
NM_015046.7(SETX):c.6107-69T>G
|
rs2274563
|
|
NM_015046.7(SETX):c.6324+53dup
|
rs35545441
|
|
NM_015046.7(SETX):c.6396+221dup
|
rs58043008
|
|
NM_015046.7(SETX):c.6396+241del
|
rs58043008
|
|
NM_015046.7(SETX):c.6396+43del
|
rs201395158
|
|
NM_015046.7(SETX):c.6546+92dup
|
rs371692040
|
|
NM_015046.7(SETX):c.6842+252_6842+254del
|
rs10615907
|
|
NM_015046.7(SETX):c.6843-16dup
|
rs34769225
|
|
NM_015046.7(SETX):c.6843-5del
|
rs34769225
|
|
NM_015046.7(SETX):c.7101-92_7101-91dup
|
rs375899109
|
|
NM_015046.7(SETX):c.718+151T>G
|
rs7036889
|
|
NM_015046.7(SETX):c.718+72_718+73del
|
rs10573812
|
|
NM_015046.7(SETX):c.719-315_719-314dup
|
rs58780019
|
|
NM_015046.7(SETX):c.719-315dup
|
rs58780019
|
|
NM_015046.7(SETX):c.7199+23_7199+48dup
|
rs367693125
|
|
NM_015046.7(SETX):c.7199+60C>T
|
rs78827183
|
|
NM_015046.7(SETX):c.7288-197dup
|
rs76034156
|
|
NM_015046.7(SETX):c.7288-240del
|
rs397741391
|
|
NM_015046.7(SETX):c.7288-259_7288-258dup
|
rs397741391
|
|
NM_015046.7(SETX):c.7288-259dup
|
rs397741391
|
|
NM_015046.7(SETX):c.7432A>C (p.Thr2478Pro)
|
rs142303658
|
|
NM_015046.7(SETX):c.838+333C>T
|
rs79117874
|
|
NM_015046.7(SETX):c.839-239dup
|
rs200362840
|
|