ClinVar Miner

List of variants in gene SETX studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 594
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HGVS dbSNP gnomAD frequency
NM_015046.7(SETX):c.388+51C>T rs497650 0.99588
NM_015046.7(SETX):c.839-144T>C rs580964 0.90346
NM_015046.7(SETX):c.1098+208C>T rs9411448 0.89769
NM_015046.7(SETX):c.3576T>G (p.Asp1192Glu) rs1185193 0.76694
NM_015046.7(SETX):c.1077T>C (p.Tyr359=) rs9411449 0.75774
NM_015046.7(SETX):c.719-210T>G rs573913 0.69538
NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg) rs1183768 0.68476
NM_015046.7(SETX):c.4156A>G (p.Ile1386Val) rs543573 0.68049
NM_015046.7(SETX):c.6547-287G>T rs10441804 0.44540
NM_015046.7(SETX):c.7759A>G (p.Ile2587Val) rs1056899 0.44536
NM_015046.7(SETX):c.6655-24G>A rs11243704 0.44367
NM_015046.7(SETX):c.389-157T>C rs514279 0.42979
NM_015046.7(SETX):c.5563A>G (p.Thr1855Ala) rs2296871 0.31596
NM_015046.7(SETX):c.5811T>C (p.Asp1937=) rs2296869 0.31585
NM_015046.7(SETX):c.5949+111A>G rs2296868 0.31582
NM_015046.7(SETX):c.5549-59C>A rs6597570 0.31568
NM_015046.7(SETX):c.5782-224G>C rs2296870 0.29779
NM_015046.7(SETX):c.5374+16C>T rs2296872 0.24325
NM_015046.7(SETX):c.5549-250G>C rs7875226 0.24281
NM_015046.7(SETX):c.5781+12dup rs3831154 0.24271
NM_015046.7(SETX):c.5549-193A>G rs6597571 0.24266
NM_015046.7(SETX):c.6654+215A>G rs3736997 0.18239
NM_015046.7(SETX):c.6842+302C>T rs13285992 0.17880
NM_015046.7(SETX):c.7199+104T>C rs7046688 0.17775
NM_015046.7(SETX):c.6936-100C>A rs2296867 0.16552
NM_015046.7(SETX):c.7100+27A>G rs2296865 0.16223
NM_015046.7(SETX):c.7100+182T>G rs17148869 0.16201
NM_015046.7(SETX):c.6654+152T>A rs3736998 0.16154
NM_015046.7(SETX):c.498+268A>G rs11790705 0.15078
NM_015046.7(SETX):c.6655-29A>G rs11243705 0.14272
NM_015046.7(SETX):c.1979C>G (p.Ala660Gly) rs882709 0.12168
NM_015046.7(SETX):c.6655-237T>C rs113154441 0.10176
NM_015046.7(SETX):c.*2262A>G rs997784 0.09345
NM_015046.7(SETX):c.6935+8T>C rs17148873 0.09319
NM_015046.7(SETX):c.6655-309A>G rs78084433 0.09258
NM_015046.7(SETX):c.389-142C>A rs13294324 0.09257
NM_015046.7(SETX):c.5949+220C>T rs58808218 0.08527
NM_015046.7(SETX):c.7834A>G (p.Ser2612Gly) rs3739927 0.08329
NM_015046.7(SETX):c.6106+258A>G rs73661156 0.07699
NM_015046.7(SETX):c.3147C>T (p.His1049=) rs3739921 0.07515
NM_015046.7(SETX):c.6546+32T>A rs2296873 0.07069
NM_015046.7(SETX):c.6546+321T>C rs2296875 0.07067
NM_015046.7(SETX):c.6546+108C>G rs2296874 0.06821
NM_015046.7(SETX):c.6936-315C>T rs77811978 0.06714
NM_015046.7(SETX):c.6842+221A>G rs7025628 0.06495
NM_015046.7(SETX):c.5949+253C>T rs75403090 0.05668
NM_015046.7(SETX):c.498+30T>C rs11790312 0.05653
NM_015046.7(SETX):c.5549-172C>T rs7874311 0.05320
NM_015046.7(SETX):c.1099-73T>C rs1011378 0.05059
NM_015046.7(SETX):c.178-209T>C rs11243734 0.04747
NM_015046.7(SETX):c.7288-60A>G rs76392709 0.04746
NM_015046.7(SETX):c.3455T>G (p.Phe1152Cys) rs3739922 0.04708
NM_015046.7(SETX):c.6396+80A>G rs59825291 0.04291
NM_015046.7(SETX):c.7199+255G>A rs112275403 0.04204
NM_015046.7(SETX):c.*1700G>T rs75682594 0.03993
NM_015046.7(SETX):c.-114-108C>T rs117395901 0.02465
NM_015046.7(SETX):c.498+20G>A rs73659013 0.02106
NM_015046.7(SETX):c.6936-27T>G rs2296866 0.02083
NM_015046.7(SETX):c.6325-195G>A rs73661155 0.01841
NM_015046.7(SETX):c.6106+14G>A rs73661157 0.01840
NM_015046.7(SETX):c.-7-298A>G rs56204293 0.01821
NM_015046.7(SETX):c.5274+46A>T rs61739429 0.01710
NM_015046.7(SETX):c.6936-51G>A rs62576467 0.01660
NM_015046.7(SETX):c.6547-164G>A rs12336849 0.01647
NM_015046.7(SETX):c.3182C>T (p.Pro1061Leu) rs12352982 0.01591
NM_015046.7(SETX):c.6324+195G>A rs115107300 0.01544
NM_015046.7(SETX):c.-114-30C>T rs77685248 0.01447
NM_015046.7(SETX):c.2975A>G (p.Lys992Arg) rs61742937 0.01445
NM_015046.7(SETX):c.6507G>A (p.Gly2169=) rs34073320 0.01300
NM_015046.7(SETX):c.6842+98G>A rs35537391 0.01284
NM_015046.7(SETX):c.6325-304C>T rs78636572 0.01241
NM_015046.7(SETX):c.*351G>T rs117409290 0.01236
NM_015046.7(SETX):c.7288-239C>A rs375201172 0.00922
NM_015046.7(SETX):c.6396+199G>A rs112673349 0.00856
NM_015046.7(SETX):c.5275-291G>A rs77241663 0.00838
NM_015046.7(SETX):c.-8+161G>A rs187132021 0.00819
NM_015046.7(SETX):c.838+233C>T rs150900422 0.00723
NM_015046.7(SETX):c.718+113G>A rs144636697 0.00718
NM_015046.7(SETX):c.498+194C>G rs116531130 0.00711
NM_015046.7(SETX):c.7288-302C>T rs150197925 0.00696
NM_015046.7(SETX):c.5375-224A>G rs116514878 0.00688
NM_015046.7(SETX):c.1968A>G (p.Val656=) rs113997459 0.00654
NM_015046.7(SETX):c.1957C>A (p.Gln653Lys) rs116333061 0.00653
NM_015046.7(SETX):c.7905C>T (p.Ala2635=) rs112201716 0.00633
NM_015046.7(SETX):c.59G>A (p.Arg20His) rs79740039 0.00602
NM_015046.7(SETX):c.6546+104G>A rs577168773 0.00593
NM_015046.7(SETX):c.389-158A>G rs148824283 0.00582
NM_015046.7(SETX):c.*319C>T rs1056912 0.00570
NM_015046.7(SETX):c.389-347G>A rs190081802 0.00548
NM_015046.7(SETX):c.5275-43T>C rs144258500 0.00547
NM_015046.7(SETX):c.6935+47A>T rs563210323 0.00521
NM_015046.7(SETX):c.6935+51del rs1307477082 0.00519
NM_015046.7(SETX):c.1807A>G (p.Asn603Asp) rs116205032 0.00493
NM_015046.7(SETX):c.4755T>G (p.Pro1585=) rs151237267 0.00484
NM_015046.7(SETX):c.6547-27T>C rs114889188 0.00481
NM_015046.7(SETX):c.6936-110A>G rs144331722 0.00480
NM_015046.7(SETX):c.7100+233T>C rs73545071 0.00478
NM_015046.7(SETX):c.2672T>C (p.Val891Ala) rs148181729 0.00470
NM_015046.7(SETX):c.388+266C>T rs114734765 0.00467
NM_015046.7(SETX):c.178-66G>A rs147919430 0.00466
NM_015046.7(SETX):c.*475A>C rs60760878 0.00452
NM_015046.7(SETX):c.-7-87G>A rs138786137 0.00445
NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr) rs151117904 0.00431
NM_015046.7(SETX):c.3663G>C (p.Lys1221Asn) rs12344006 0.00412
NM_015046.7(SETX):c.7371T>C (p.His2457=) rs113071480 0.00399
NM_015046.7(SETX):c.3568A>G (p.Lys1190Glu) rs35473230 0.00364
NM_015046.7(SETX):c.6108A>G (p.Gly2036=) rs35815657 0.00358
NM_015046.7(SETX):c.472T>G (p.Leu158Val) rs145438764 0.00347
NM_015046.7(SETX):c.7724C>T (p.Pro2575Leu) rs34000644 0.00304
NM_015046.7(SETX):c.2216G>A (p.Gly739Glu) rs36024203 0.00293
NM_015046.7(SETX):c.5950-48C>A rs148438673 0.00285
NM_015046.7(SETX):c.4660T>G (p.Cys1554Gly) rs112089123 0.00250
NM_015046.7(SETX):c.2401A>G (p.Lys801Glu) rs149718424 0.00229
NM_015046.7(SETX):c.2981A>G (p.Asp994Gly) rs149546633 0.00216
NM_015046.7(SETX):c.7114G>A (p.Asp2372Asn) rs150673589 0.00178
NM_015046.7(SETX):c.3310C>G (p.Gln1104Glu) rs113831637 0.00173
NM_015046.7(SETX):c.7101A>G (p.Gly2367=) rs79233884 0.00141
NM_015046.7(SETX):c.3809C>T (p.Pro1270Leu) rs144334281 0.00122
NM_015046.7(SETX):c.3229G>A (p.Asp1077Asn) rs145097270 0.00105
NM_015046.7(SETX):c.2124T>C (p.Ser708=) rs139236924 0.00093
NM_015046.7(SETX):c.4982C>G (p.Pro1661Arg) rs146873848 0.00080
NM_015046.7(SETX):c.192A>G (p.Leu64=) rs117326462 0.00078
NM_015046.7(SETX):c.5949+5G>A rs374656811 0.00078
NM_015046.7(SETX):c.717A>G (p.Leu239=) rs147125311 0.00076
NM_015046.7(SETX):c.81C>T (p.Ser27=) rs149229231 0.00076
NM_015046.7(SETX):c.3010A>G (p.Asn1004Asp) rs77984885 0.00075
NM_015046.7(SETX):c.7870G>T (p.Asp2624Tyr) rs141589525 0.00073
NM_015046.7(SETX):c.2282C>T (p.Ser761Leu) rs200153024 0.00059
NM_015046.7(SETX):c.2479A>G (p.Lys827Glu) rs150532677 0.00058
NM_015046.7(SETX):c.3336T>C (p.Ala1112=) rs150687078 0.00053
NM_015046.7(SETX):c.4197A>G (p.Thr1399=) rs148078248 0.00052
NM_015046.7(SETX):c.3965C>A (p.Thr1322Asn) rs144900653 0.00051
NM_015046.7(SETX):c.5473A>G (p.Thr1825Ala) rs151046729 0.00051
NM_015046.7(SETX):c.7914C>T (p.Phe2638=) rs80296256 0.00051
NM_015046.7(SETX):c.178-29C>T rs202032589 0.00039
NM_015046.7(SETX):c.3345C>G (p.Ala1115=) rs142020270 0.00039
NM_015046.7(SETX):c.3826C>G (p.Gln1276Glu) rs148604312 0.00039
NM_015046.7(SETX):c.654G>C (p.Lys218Asn) rs117861188 0.00039
NM_015046.7(SETX):c.7432A>G (p.Thr2478Ala) rs142303658 0.00038
NM_015046.7(SETX):c.1693T>C (p.Phe565Leu) rs143982186 0.00037
NM_015046.7(SETX):c.5283A>G (p.Gln1761=) rs139063885 0.00036
NM_015046.7(SETX):c.4612C>T (p.Arg1538Trp) rs147018359 0.00035
NM_015046.7(SETX):c.4433C>A (p.Ala1478Glu) rs143661911 0.00034
NM_015046.7(SETX):c.7982A>G (p.Lys2661Arg) rs199921065 0.00034
NM_015046.7(SETX):c.2955G>A (p.Ser985=) rs201251074 0.00031
NM_015046.7(SETX):c.4096T>C (p.Ser1366Pro) rs140147684 0.00030
NM_015046.7(SETX):c.4090A>G (p.Arg1364Gly) rs142134306 0.00026
NM_015046.7(SETX):c.5998C>G (p.Gln2000Glu) rs142917412 0.00026
NM_015046.7(SETX):c.1391C>T (p.Ser464Leu) rs200614765 0.00021
NM_015046.7(SETX):c.4273A>G (p.Lys1425Glu) rs534886444 0.00020
NM_015046.7(SETX):c.7991T>C (p.Leu2664Pro) rs143798689 0.00019
NM_015046.7(SETX):c.968G>A (p.Ser323Asn) rs372193033 0.00019
NM_015046.7(SETX):c.1066G>A (p.Val356Ile) rs143270460 0.00016
NM_015046.7(SETX):c.6013G>A (p.Val2005Met) rs148568105 0.00016
NM_015046.7(SETX):c.7195A>G (p.Ile2399Val) rs150489999 0.00016
NM_015046.7(SETX):c.1869A>C (p.Glu623Asp) rs139200312 0.00015
NM_015046.7(SETX):c.7100+9T>C rs200088320 0.00015
NM_015046.7(SETX):c.5294A>G (p.Asn1765Ser) rs373085593 0.00013
NM_015046.7(SETX):c.7490G>A (p.Ser2497Asn) rs61735488 0.00013
NM_015046.7(SETX):c.3505A>G (p.Met1169Val) rs573849874 0.00012
NM_015046.7(SETX):c.5051C>G (p.Ser1684Cys) rs140116005 0.00012
NM_015046.7(SETX):c.3090T>C (p.Leu1030=) rs368677513 0.00011
NM_015046.7(SETX):c.7092T>C (p.Asp2364=) rs144607919 0.00011
NM_015046.7(SETX):c.1504C>T (p.Arg502Trp) rs534723946 0.00010
NM_015046.7(SETX):c.2750T>C (p.Met917Thr) rs376022544 0.00009
NM_015046.7(SETX):c.4631T>C (p.Leu1544Ser) rs754357821 0.00009
NM_015046.7(SETX):c.5852A>G (p.His1951Arg) rs146593865 0.00009
NM_015046.7(SETX):c.78G>A (p.Pro26=) rs139972421 0.00009
NM_015046.7(SETX):c.1374T>G (p.Phe458Leu) rs201441886 0.00008
NM_015046.7(SETX):c.5271A>G (p.Glu1757=) rs200499115 0.00008
NM_015046.7(SETX):c.5842A>G (p.Met1948Val) rs762267386 0.00008
NM_015046.7(SETX):c.7682C>T (p.Ser2561Leu) rs147705644 0.00008
NM_015046.7(SETX):c.7979A>G (p.Asp2660Gly) rs567672087 0.00008
NM_015046.7(SETX):c.3023C>G (p.Thr1008Ser) rs372021275 0.00007
NM_015046.7(SETX):c.1227A>G (p.Leu409=) rs769913556 0.00006
NM_015046.7(SETX):c.1880T>C (p.Met627Thr) rs199707503 0.00006
NM_015046.7(SETX):c.234G>A (p.Lys78=) rs146206138 0.00006
NM_015046.7(SETX):c.3016G>A (p.Gly1006Arg) rs141266068 0.00006
NM_015046.7(SETX):c.3207T>A (p.Thr1069=) rs200585636 0.00006
NM_015046.7(SETX):c.3210T>C (p.Leu1070=) rs145014082 0.00006
NM_015046.7(SETX):c.4136A>G (p.His1379Arg) rs181158146 0.00006
NM_015046.7(SETX):c.5537G>A (p.Arg1846His) rs373571937 0.00006
NM_015046.7(SETX):c.5712A>G (p.Arg1904=) rs750372437 0.00006
NM_015046.7(SETX):c.6161G>A (p.Ser2054Asn) rs200778360 0.00006
NM_015046.7(SETX):c.658A>C (p.Lys220Gln) rs761180215 0.00006
NM_015046.7(SETX):c.7660T>A (p.Phe2554Ile) rs368269464 0.00006
NM_015046.7(SETX):c.7874C>T (p.Pro2625Leu) rs553413088 0.00006
NM_015046.7(SETX):c.1015A>C (p.Lys339Gln) rs768437607 0.00005
NM_015046.7(SETX):c.2862G>A (p.Thr954=) rs149610510 0.00005
NM_015046.7(SETX):c.3056C>A (p.Ser1019Tyr) rs749204574 0.00005
NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr) rs373375060 0.00005
NM_015046.7(SETX):c.4252C>G (p.Pro1418Ala) rs747356601 0.00005
NM_015046.7(SETX):c.4865C>T (p.Pro1622Leu) rs140781535 0.00005
NM_015046.7(SETX):c.4A>G (p.Ser2Gly) rs149808180 0.00005
NM_015046.7(SETX):c.807G>A (p.Ser269=) rs147677608 0.00005
NM_015046.7(SETX):c.991A>G (p.Ile331Val) rs572884359 0.00005
NM_015046.7(SETX):c.*7C>T rs754956426 0.00004
NM_015046.7(SETX):c.1140T>G (p.Pro380=) rs140553290 0.00004
NM_015046.7(SETX):c.1468G>A (p.Val490Ile) rs763545230 0.00004
NM_015046.7(SETX):c.146A>G (p.Lys49Arg) rs142551293 0.00004
NM_015046.7(SETX):c.1626C>T (p.Leu542=) rs746541015 0.00004
NM_015046.7(SETX):c.1750C>G (p.Leu584Val) rs764995848 0.00004
NM_015046.7(SETX):c.1754A>G (p.Gln585Arg) rs188247474 0.00004
NM_015046.7(SETX):c.2176T>C (p.Cys726Arg) rs377734748 0.00004
NM_015046.7(SETX):c.2490A>C (p.Gly830=) rs751429987 0.00004
NM_015046.7(SETX):c.2502A>G (p.Gly834=) rs762818441 0.00004
NM_015046.7(SETX):c.2543T>G (p.Val848Gly) rs567711722 0.00004
NM_015046.7(SETX):c.2935G>A (p.Asp979Asn) rs138287942 0.00004
NM_015046.7(SETX):c.3029G>A (p.Arg1010His) rs370781594 0.00004
NM_015046.7(SETX):c.3115A>G (p.Ile1039Val) rs372529790 0.00004
NM_015046.7(SETX):c.3587A>G (p.Asn1196Ser) rs376381668 0.00004
NM_015046.7(SETX):c.377A>G (p.His126Arg) rs368932301 0.00004
NM_015046.7(SETX):c.3968G>A (p.Arg1323Gln) rs369542231 0.00004
NM_015046.7(SETX):c.399T>C (p.Cys133=) rs779515782 0.00004
NM_015046.7(SETX):c.4202G>T (p.Gly1401Val) rs185868357 0.00004
NM_015046.7(SETX):c.4436C>T (p.Ala1479Val) rs761119964 0.00004
NM_015046.7(SETX):c.4828C>T (p.Leu1610Phe) rs749891883 0.00004
NM_015046.7(SETX):c.4979A>G (p.His1660Arg) rs371894414 0.00004
NM_015046.7(SETX):c.540A>G (p.Lys180=) rs757470639 0.00004
NM_015046.7(SETX):c.546C>A (p.Asp182Glu) rs199748733 0.00004
NM_015046.7(SETX):c.5591_5592del (p.Gln1864fs) rs776470487 0.00004
NM_015046.7(SETX):c.6122T>C (p.Ile2041Thr) rs140676924 0.00004
NM_015046.7(SETX):c.6435C>T (p.Ile2145=) rs374110190 0.00004
NM_015046.7(SETX):c.6910G>T (p.Asp2304Tyr) rs774458684 0.00004
NM_015046.7(SETX):c.7073A>G (p.Asp2358Gly) rs770469636 0.00004
NM_015046.7(SETX):c.719-4A>G rs775443601 0.00004
NM_015046.7(SETX):c.7715C>T (p.Thr2572Met) rs773364996 0.00004
NM_015046.7(SETX):c.7741C>T (p.His2581Tyr) rs530686162 0.00004
NM_015046.7(SETX):c.839-6T>C rs760584527 0.00004
NM_015046.7(SETX):c.1343A>G (p.Asp448Gly) rs370363342 0.00003
NM_015046.7(SETX):c.2045A>G (p.His682Arg) rs373850132 0.00003
NM_015046.7(SETX):c.2390A>G (p.Lys797Arg) rs1273786747 0.00003
NM_015046.7(SETX):c.2399G>T (p.Arg800Met) rs761725498 0.00003
NM_015046.7(SETX):c.2411T>C (p.Leu804Ser) rs201096140 0.00003
NM_015046.7(SETX):c.2755G>C (p.Val919Leu) rs561190371 0.00003
NM_015046.7(SETX):c.3298A>G (p.Asn1100Asp) rs1230355404 0.00003
NM_015046.7(SETX):c.4291C>G (p.Pro1431Ala) rs371541705 0.00003
NM_015046.7(SETX):c.4390C>T (p.Pro1464Ser) rs756080695 0.00003
NM_015046.7(SETX):c.4417C>T (p.Arg1473Cys) rs781185115 0.00003
NM_015046.7(SETX):c.4423A>G (p.Ile1475Val) rs376678876 0.00003
NM_015046.7(SETX):c.4685G>A (p.Gly1562Asp) rs771969117 0.00003
NM_015046.7(SETX):c.5071C>A (p.Leu1691Ile) rs756770572 0.00003
NM_015046.7(SETX):c.5103C>T (p.Phe1701=) rs773628961 0.00003
NM_015046.7(SETX):c.5591A>C (p.Gln1864Pro) rs375747001 0.00003
NM_015046.7(SETX):c.5927T>G (p.Leu1976Arg) rs121434379 0.00003
NM_015046.7(SETX):c.6085A>G (p.Lys2029Glu) rs746525639 0.00003
NM_015046.7(SETX):c.6829T>C (p.Leu2277=) rs189444354 0.00003
NM_015046.7(SETX):c.7818C>T (p.Gly2606=) rs764270386 0.00003
NM_015046.7(SETX):c.806C>T (p.Ser269Leu) rs757988188 0.00003
NM_015046.7(SETX):c.1467C>T (p.Val489=) rs142093830 0.00002
NM_015046.7(SETX):c.1815T>C (p.Phe605=) rs753675238 0.00002
NM_015046.7(SETX):c.1858A>G (p.Asn620Asp) rs777081940 0.00002
NM_015046.7(SETX):c.2101G>A (p.Ala701Thr) rs769620847 0.00002
NM_015046.7(SETX):c.2842C>A (p.Pro948Thr) rs778882347 0.00002
NM_015046.7(SETX):c.3200C>T (p.Thr1067Ile) rs374091487 0.00002
NM_015046.7(SETX):c.3880C>T (p.Arg1294Cys) rs267607044 0.00002
NM_015046.7(SETX):c.4180T>C (p.Ser1394Pro) rs780078856 0.00002
NM_015046.7(SETX):c.4369A>G (p.Ile1457Val) rs747804357 0.00002
NM_015046.7(SETX):c.4525T>C (p.Cys1509Arg) rs543647990 0.00002
NM_015046.7(SETX):c.4672A>G (p.Thr1558Ala) rs764920626 0.00002
NM_015046.7(SETX):c.4906A>G (p.Lys1636Glu) rs368931174 0.00002
NM_015046.7(SETX):c.5278G>A (p.Ala1760Thr) rs764316153 0.00002
NM_015046.7(SETX):c.5322G>T (p.Gln1774His) rs771691157 0.00002
NM_015046.7(SETX):c.5403A>C (p.Lys1801Asn) rs762071010 0.00002
NM_015046.7(SETX):c.5535C>T (p.Arg1845=) rs200433173 0.00002
NM_015046.7(SETX):c.5552G>A (p.Arg1851His) rs137978070 0.00002
NM_015046.7(SETX):c.5603C>T (p.Pro1868Leu) rs370368422 0.00002
NM_015046.7(SETX):c.6029A>G (p.Asn2010Ser) rs759806045 0.00002
NM_015046.7(SETX):c.6106G>A (p.Gly2036Arg) rs863224919 0.00002
NM_015046.7(SETX):c.6356T>C (p.Val2119Ala) rs781741533 0.00002
NM_015046.7(SETX):c.635C>G (p.Thr212Ser) rs771502043 0.00002
NM_015046.7(SETX):c.6668A>G (p.Tyr2223Cys) rs747913385 0.00002
NM_015046.7(SETX):c.7967A>G (p.Asn2656Ser) rs745394467 0.00002
NM_015046.7(SETX):c.855T>C (p.Pro285=) rs141736312 0.00002
NM_015046.7(SETX):c.1288G>A (p.Ala430Thr) rs778488721 0.00001
NM_015046.7(SETX):c.1579C>G (p.Pro527Ala) rs774240718 0.00001
NM_015046.7(SETX):c.1670G>A (p.Arg557Gln) rs548433078 0.00001
NM_015046.7(SETX):c.2005A>T (p.Asn669Tyr) rs143727702 0.00001
NM_015046.7(SETX):c.2125A>G (p.Thr709Ala) rs750530263 0.00001
NM_015046.7(SETX):c.2233C>T (p.Arg745Cys) rs780121182 0.00001
NM_015046.7(SETX):c.2245G>A (p.Asp749Asn) rs922821119 0.00001
NM_015046.7(SETX):c.2254A>G (p.Thr752Ala) rs745938575 0.00001
NM_015046.7(SETX):c.2278A>G (p.Thr760Ala) rs373647065 0.00001
NM_015046.7(SETX):c.2607_2609del (p.Lys870del) rs781159054 0.00001
NM_015046.7(SETX):c.2711A>G (p.Asn904Ser) rs143265750 0.00001
NM_015046.7(SETX):c.272A>G (p.Asp91Gly) rs1327343862 0.00001
NM_015046.7(SETX):c.2779A>G (p.Met927Val) rs886063556 0.00001
NM_015046.7(SETX):c.2985A>C (p.Lys995Asn) rs1285317289 0.00001
NM_015046.7(SETX):c.3040A>G (p.Ile1014Val) rs761243379 0.00001
NM_015046.7(SETX):c.3299A>C (p.Asn1100Thr) rs545072717 0.00001
NM_015046.7(SETX):c.3410G>A (p.Gly1137Asp) rs62576475 0.00001
NM_015046.7(SETX):c.3602T>C (p.Ile1201Thr) rs750443804 0.00001
NM_015046.7(SETX):c.382C>T (p.Arg128Cys) rs552476047 0.00001
NM_015046.7(SETX):c.3900C>T (p.Ser1300=) rs886063554 0.00001
NM_015046.7(SETX):c.3931C>T (p.Arg1311Cys) rs773999398 0.00001
NM_015046.7(SETX):c.4087C>T (p.Arg1363Ter) rs121434376 0.00001
NM_015046.7(SETX):c.4114G>C (p.Asp1372His) rs1564539457 0.00001
NM_015046.7(SETX):c.4209G>A (p.Glu1403=) rs1347401564 0.00001
NM_015046.7(SETX):c.4270A>G (p.Ile1424Val) rs757978377 0.00001
NM_015046.7(SETX):c.4297A>G (p.Thr1433Ala) rs1038733632 0.00001
NM_015046.7(SETX):c.4312C>T (p.Pro1438Ser) rs750178634 0.00001
NM_015046.7(SETX):c.4424T>C (p.Ile1475Thr) rs765480069 0.00001
NM_015046.7(SETX):c.4432G>A (p.Ala1478Thr) rs759545112 0.00001
NM_015046.7(SETX):c.4507C>A (p.Pro1503Thr) rs745844516 0.00001
NM_015046.7(SETX):c.5171G>A (p.Ser1724Asn) rs770527045 0.00001
NM_015046.7(SETX):c.5203G>A (p.Val1735Ile) rs752646721 0.00001
NM_015046.7(SETX):c.5267T>C (p.Phe1756Ser) rs762175796 0.00001
NM_015046.7(SETX):c.5297C>A (p.Ser1766Tyr) rs1434366684 0.00001
NM_015046.7(SETX):c.5320C>T (p.Gln1774Ter) rs1391764195 0.00001
NM_015046.7(SETX):c.5503G>A (p.Glu1835Lys) rs143133190 0.00001
NM_015046.7(SETX):c.569A>C (p.Gln190Pro) rs1173845468 0.00001
NM_015046.7(SETX):c.5825T>C (p.Ile1942Thr) rs773379832 0.00001
NM_015046.7(SETX):c.5834C>T (p.Ala1945Val) rs1009296937 0.00001
NM_015046.7(SETX):c.5901A>G (p.Thr1967=) rs780717865 0.00001
NM_015046.7(SETX):c.5929C>T (p.Leu1977Phe) rs121434380 0.00001
NM_015046.7(SETX):c.6172A>C (p.Lys2058Gln) rs747309962 0.00001
NM_015046.7(SETX):c.6248G>T (p.Arg2083Ile) rs751252138 0.00001
NM_015046.7(SETX):c.628A>G (p.Ile210Val) rs1352654083 0.00001
NM_015046.7(SETX):c.6313C>T (p.Arg2105Trp) rs142843968 0.00001
NM_015046.7(SETX):c.6351C>T (p.Ser2117=) rs200269892 0.00001
NM_015046.7(SETX):c.6546+44G>A rs373789634 0.00001
NM_015046.7(SETX):c.6897dup (p.Phe2300fs) rs1331217337 0.00001
NM_015046.7(SETX):c.7005G>C (p.Lys2335Asn) rs141657462 0.00001
NM_015046.7(SETX):c.7139G>A (p.Arg2380Gln) rs145397619 0.00001
NM_015046.7(SETX):c.7413A>T (p.Arg2471Ser) rs1382990384 0.00001
NM_015046.7(SETX):c.7417C>G (p.Leu2473Val) rs760196991 0.00001
NM_015046.7(SETX):c.7427C>T (p.Pro2476Leu) rs767515528 0.00001
NM_015046.7(SETX):c.7473C>T (p.Pro2491=) rs1173009713 0.00001
NM_015046.7(SETX):c.7720G>A (p.Glu2574Lys) rs145345675 0.00001
NM_015046.7(SETX):c.7737C>T (p.Val2579=) rs780854409 0.00001
NM_015046.7(SETX):c.7814G>A (p.Arg2605Gln) rs543247171 0.00001
NM_015046.7(SETX):c.7972A>G (p.Arg2658Gly) rs779793402 0.00001
NM_015046.7(SETX):c.7995G>T (p.Glu2665Asp) rs1085307585 0.00001
NM_015046.7(SETX):c.820A>G (p.Met274Val) rs753713810 0.00001
NM_015046.7(SETX):c.832G>A (p.Ala278Thr) rs369035418 0.00001
NM_015046.7(SETX):c.866C>T (p.Ala289Val) rs1237541645 0.00001
NM_015046.7(SETX):c.967A>G (p.Ser323Gly) rs758625845 0.00001
NM_015046.7(SETX):c.994C>T (p.Arg332Trp) rs29001665 0.00001
NM_015046.7(SETX):c.998A>G (p.Asn333Ser) rs538829833 0.00001
GRCh37/hg19 9q34.13(chr9:135209995-135210114)x1
NM_015046.6(SETX):c.6848_6851delCAGA
NM_015046.7(SETX):c.*1282C>T rs1842469257
NM_015046.7(SETX):c.*200T>G rs114940532
NM_015046.7(SETX):c.*2A>G
NM_015046.7(SETX):c.*430dup rs1245820302
NM_015046.7(SETX):c.*431_*432del rs112251805
NM_015046.7(SETX):c.-7-99A>C rs115333638
NM_015046.7(SETX):c.-8+134dup rs80205458
NM_015046.7(SETX):c.-8+135C>T rs113077071
NM_015046.7(SETX):c.-8+143del rs80205458
NM_015046.7(SETX):c.-8+8dup rs66524976
NM_015046.7(SETX):c.1004C>G (p.Ser335Cys)
NM_015046.7(SETX):c.100G>A (p.Asp34Asn)
NM_015046.7(SETX):c.1099-142A>G rs1536662
NM_015046.7(SETX):c.1166T>C (p.Leu389Ser) rs29001584
NM_015046.7(SETX):c.1273G>T (p.Gly425Cys) rs1428065074
NM_015046.7(SETX):c.1274G>C (p.Gly425Ala) rs1199659912
NM_015046.7(SETX):c.1285A>G (p.Ile429Val) rs747053403
NM_015046.7(SETX):c.1343A>C (p.Asp448Ala) rs370363342
NM_015046.7(SETX):c.1358A>G (p.Lys453Arg) rs886063559
NM_015046.7(SETX):c.1363A>G (p.Thr455Ala)
NM_015046.7(SETX):c.1427_1432del (p.His476_Leu477del) rs777314512
NM_015046.7(SETX):c.1462G>A (p.Ala488Thr)
NM_015046.7(SETX):c.1508G>A (p.Ser503Asn) rs1085307770
NM_015046.7(SETX):c.152G>A (p.Arg51Lys) rs777256092
NM_015046.7(SETX):c.1658C>T (p.Ser553Phe) rs1589747116
NM_015046.7(SETX):c.1724dup (p.Leu576fs)
NM_015046.7(SETX):c.177+125del rs148250771
NM_015046.7(SETX):c.1771A>G (p.Ile591Val)
NM_015046.7(SETX):c.1776T>C (p.Ile592=)
NM_015046.7(SETX):c.1837A>C (p.Lys613Gln)
NM_015046.7(SETX):c.1919C>G (p.Ala640Gly)
NM_015046.7(SETX):c.2040G>A (p.Glu680=)
NM_015046.7(SETX):c.2094T>G (p.Thr698=) rs2131455800
NM_015046.7(SETX):c.2143_2144del (p.Val715fs)
NM_015046.7(SETX):c.2180C>T (p.Thr727Ile)
NM_015046.7(SETX):c.2228C>G (p.Ser743Ter)
NM_015046.7(SETX):c.2267A>G (p.Glu756Gly)
NM_015046.7(SETX):c.2272G>A (p.Val758Met)
NM_015046.7(SETX):c.2332C>T (p.Arg778Ter) rs747501465
NM_015046.7(SETX):c.2387_2390del (p.Lys796fs) rs745775419
NM_015046.7(SETX):c.23C>T (p.Thr8Met) rs1057520367
NM_015046.7(SETX):c.2405G>A (p.Ser802Asn) rs1847058160
NM_015046.7(SETX):c.241A>G (p.Ile81Val)
NM_015046.7(SETX):c.243del (p.Ile81fs) rs1455336434
NM_015046.7(SETX):c.2489_2491dup (p.Gly830dup) rs2131452043
NM_015046.7(SETX):c.2591C>T (p.Pro864Leu)
NM_015046.7(SETX):c.2660A>G (p.Gln887Arg) rs769138877
NM_015046.7(SETX):c.2669A>G (p.His890Arg) rs2131450125
NM_015046.7(SETX):c.2698A>G (p.Thr900Ala) rs1320466105
NM_015046.7(SETX):c.2699C>G (p.Thr900Arg)
NM_015046.7(SETX):c.2721GAA[1] (p.Lys909del)
NM_015046.7(SETX):c.2887C>T (p.His963Tyr)
NM_015046.7(SETX):c.2958G>C (p.Gln986His) rs969060686
NM_015046.7(SETX):c.3040ATT[2] (p.Ile1016del) rs765663814
NM_015046.7(SETX):c.3057TGA[4] (p.Asp1023_Asp1024del) rs572772837
NM_015046.7(SETX):c.3057TGA[5] (p.Asp1024del) rs572772837
NM_015046.7(SETX):c.3057TGA[7] (p.Asp1024dup) rs572772837
NM_015046.7(SETX):c.32G>A (p.Gly11Asp) rs886063560
NM_015046.7(SETX):c.3311A>C (p.Gln1104Pro) rs777787438
NM_015046.7(SETX):c.3321G>A (p.Glu1107=) rs376572656
NM_015046.7(SETX):c.3350C>T (p.Thr1117Ile) rs1564541749
NM_015046.7(SETX):c.3428G>T (p.Arg1143Ile)
NM_015046.7(SETX):c.3497A>G (p.Glu1166Gly) rs1554820858
NM_015046.7(SETX):c.3564TAA[1] (p.Asn1189del) rs2131441680
NM_015046.7(SETX):c.3566A>G (p.Asn1189Ser)
NM_015046.7(SETX):c.3567T>G (p.Asn1189Lys)
NM_015046.7(SETX):c.3601A>T (p.Ile1201Phe) rs1589740212
NM_015046.7(SETX):c.3607A>G (p.Arg1203Gly)
NM_015046.7(SETX):c.3641G>T (p.Arg1214Ile) rs763375641
NM_015046.7(SETX):c.3651G>C (p.Thr1217=) rs111419285
NM_015046.7(SETX):c.3651G>T (p.Thr1217=) rs111419285
NM_015046.7(SETX):c.3661AAG[1] (p.Lys1222del) rs1238089698
NM_015046.7(SETX):c.3683C>T (p.Thr1228Ile) rs921853577
NM_015046.7(SETX):c.3706G>A (p.Val1236Ile)
NM_015046.7(SETX):c.370C>A (p.Leu124Ile) rs1488062133
NM_015046.7(SETX):c.3724C>G (p.Pro1242Ala)
NM_015046.7(SETX):c.377A>C (p.His126Pro)
NM_015046.7(SETX):c.381A>C (p.Glu127Asp) rs1296707786
NM_015046.7(SETX):c.388+251G>T rs61338484
NM_015046.7(SETX):c.388+69A>C rs57353091
NM_015046.7(SETX):c.388+6T>C rs2131557145
NM_015046.7(SETX):c.3881G>A (p.Arg1294His)
NM_015046.7(SETX):c.389-243C>T rs74311565
NM_015046.7(SETX):c.3890A>G (p.Tyr1297Cys)
NM_015046.7(SETX):c.3905G>T (p.Arg1302Leu)
NM_015046.7(SETX):c.3950T>C (p.Val1317Ala) rs1564539968
NM_015046.7(SETX):c.3966C>A (p.Thr1322=) rs772257618
NM_015046.7(SETX):c.3974A>G (p.Lys1325Arg)
NM_015046.7(SETX):c.4020_4022del (p.Lys1341del) rs769558791
NM_015046.7(SETX):c.4048A>G (p.Met1350Val)
NM_015046.7(SETX):c.4076A>G (p.Gln1359Arg)
NM_015046.7(SETX):c.4088G>A (p.Arg1363Gln)
NM_015046.7(SETX):c.4103G>T (p.Cys1368Phe) rs1445388214
NM_015046.7(SETX):c.4316T>C (p.Leu1439Ser) rs1589737441
NM_015046.7(SETX):c.4336G>T (p.Val1446Leu) rs1477696040
NM_015046.7(SETX):c.4517T>C (p.Met1506Thr) rs199974622
NM_015046.7(SETX):c.4517T>G (p.Met1506Arg) rs199974622
NM_015046.7(SETX):c.4600G>A (p.Asp1534Asn) rs746807833
NM_015046.7(SETX):c.4600G>C (p.Asp1534His) rs746807833
NM_015046.7(SETX):c.4630_4631del (p.Leu1544fs) rs1356107030
NM_015046.7(SETX):c.4645T>G (p.Cys1549Gly) rs1846829407
NM_015046.7(SETX):c.4662T>C (p.Cys1554=) rs1589736164
NM_015046.7(SETX):c.4679A>G (p.Asn1560Ser) rs2131430572
NM_015046.7(SETX):c.4698A>C (p.Pro1566=) rs2131430376
NM_015046.7(SETX):c.4723G>C (p.Asp1575His) rs781383567
NM_015046.7(SETX):c.4739G>A (p.Arg1580His)
NM_015046.7(SETX):c.4775_4776del (p.Pro1591_Leu1592insTer) rs2131429676
NM_015046.7(SETX):c.4814C>T (p.Ser1605Leu) rs2131429401
NM_015046.7(SETX):c.4816C>T (p.Arg1606Ter) rs759213174
NM_015046.7(SETX):c.4870C>G (p.Leu1624Val)
NM_015046.7(SETX):c.4897_4899del (p.Ser1633del) rs2131428433
NM_015046.7(SETX):c.4898C>T (p.Ser1633Leu) rs1022473091
NM_015046.7(SETX):c.4924_4947del (p.Pro1642_Val1649del)
NM_015046.7(SETX):c.4936C>T (p.Gln1646Ter) rs886041522
NM_015046.7(SETX):c.4964C>T (p.Ser1655Leu) rs1189378413
NM_015046.7(SETX):c.49T>C (p.Phe17Leu)
NM_015046.7(SETX):c.5008C>T (p.Gln1670Ter) rs762808367
NM_015046.7(SETX):c.5026T>C (p.Phe1676Leu)
NM_015046.7(SETX):c.5083C>T (p.Gln1695Ter) rs1589734405
NM_015046.7(SETX):c.5100C>G (p.Thr1700=)
NM_015046.7(SETX):c.5118A>C (p.Leu1706Phe)
NM_015046.7(SETX):c.5130T>A (p.Tyr1710Ter) rs768582274
NM_015046.7(SETX):c.5222dup (p.Asp1742fs) rs730882209
NM_015046.7(SETX):c.5243dup (p.Leu1750fs) rs754706851
NM_015046.7(SETX):c.5258T>C (p.Leu1753Ser)
NM_015046.7(SETX):c.5274+4_5274+7del rs1846750267
NM_015046.7(SETX):c.5308_5311del (p.Glu1770fs) rs750959420
NM_015046.7(SETX):c.5328A>C (p.Gln1776His) rs1589702061
NM_015046.7(SETX):c.5342C>G (p.Pro1781Arg)
NM_015046.7(SETX):c.5375-18CTT[2] rs201317659
NM_015046.7(SETX):c.5375-297_5375-286del rs200657740
NM_015046.7(SETX):c.5375-307dup rs200657740
NM_015046.7(SETX):c.5390G>A (p.Cys1797Tyr)
NM_015046.7(SETX):c.5400T>C (p.Ala1800=)
NM_015046.7(SETX):c.5428T>A (p.Leu1810Met) rs1182222248
NM_015046.7(SETX):c.546C>T (p.Asp182=) rs199748733
NM_015046.7(SETX):c.5543C>A (p.Ser1848Ter)
NM_015046.7(SETX):c.5547_5548+2del rs1554813128
NM_015046.7(SETX):c.5549-5G>A
NM_015046.7(SETX):c.5645C>A (p.Ser1882Tyr)
NM_015046.7(SETX):c.5673del (p.Ala1892fs) rs1844781818
NM_015046.7(SETX):c.5753del (p.Asp1918fs) rs2131294861
NM_015046.7(SETX):c.5782-129_5782-125del rs61398915
NM_015046.7(SETX):c.5833G>C (p.Ala1945Pro)
NM_015046.7(SETX):c.5858C>T (p.Pro1953Leu)
NM_015046.7(SETX):c.58C>T (p.Arg20Cys)
NM_015046.7(SETX):c.5938C>T (p.Leu1980=)
NM_015046.7(SETX):c.5954A>G (p.Gln1985Arg)
NM_015046.7(SETX):c.5956A>T (p.Arg1986Trp) rs868436982
NM_015046.7(SETX):c.5976A>G (p.Glu1992=)
NM_015046.7(SETX):c.6083G>A (p.Cys2028Tyr)
NM_015046.7(SETX):c.6106+171_6106+182del rs141484261
NM_015046.7(SETX):c.6106+3dup
NM_015046.7(SETX):c.6107-69T>G rs2274563
NM_015046.7(SETX):c.6107-7T>A rs766634428
NM_015046.7(SETX):c.6179G>C (p.Ser2060Thr)
NM_015046.7(SETX):c.6289C>T (p.Gln2097Ter) rs901109960
NM_015046.7(SETX):c.6292C>T (p.Arg2098Ter) rs770684782
NM_015046.7(SETX):c.6324+53dup rs35545441
NM_015046.7(SETX):c.6325-211_6325-208del rs113847801
NM_015046.7(SETX):c.6388del (p.Ile2130fs)
NM_015046.7(SETX):c.6396+221_6396+222dup rs58043008
NM_015046.7(SETX):c.6396+221dup rs58043008
NM_015046.7(SETX):c.6396+241del rs58043008
NM_015046.7(SETX):c.6396+43del rs201395158
NM_015046.7(SETX):c.6406C>T (p.Arg2136Cys) rs1554807765
NM_015046.7(SETX):c.6464T>G (p.Leu2155Trp) rs1473613373
NM_015046.7(SETX):c.6486A>G (p.Leu2162=)
NM_015046.7(SETX):c.6536T>C (p.Ile2179Thr) rs1366270093
NM_015046.7(SETX):c.6546+5G>C rs1564485095
NM_015046.7(SETX):c.6546+92dup rs371692040
NM_015046.7(SETX):c.6578C>T (p.Thr2193Ile) rs781013515
NM_015046.7(SETX):c.6654+1G>A rs1554806979
NM_015046.7(SETX):c.6683C>T (p.Ser2228Leu) rs764541704
NM_015046.7(SETX):c.668T>A (p.Leu223His) rs1211053963
NM_015046.7(SETX):c.6729_6730del (p.His2243fs) rs752122764
NM_015046.7(SETX):c.6778A>T (p.Met2260Leu) rs768334505
NM_015046.7(SETX):c.6803C>T (p.Pro2268Leu)
NM_015046.7(SETX):c.6838_6841del (p.Asn2280fs) rs1439109327
NM_015046.7(SETX):c.6842+252_6842+254del rs10615907
NM_015046.7(SETX):c.6842+3G>A
NM_015046.7(SETX):c.6843-16dup rs34769225
NM_015046.7(SETX):c.6843-5del rs34769225
NM_015046.7(SETX):c.6843-6_6843-5dup rs34769225
NM_015046.7(SETX):c.6844C>G (p.Gln2282Glu)
NM_015046.7(SETX):c.6850_6851dup (p.Ala2285fs) rs748700245
NM_015046.7(SETX):c.6928G>A (p.Asp2310Asn)
NM_015046.7(SETX):c.6976A>G (p.Ile2326Val) rs751216566
NM_015046.7(SETX):c.7042dup (p.Tyr2348fs) rs1057519213
NM_015046.7(SETX):c.7079A>G (p.Asp2360Gly)
NM_015046.7(SETX):c.7100+7C>T
NM_015046.7(SETX):c.7101-245A>G rs149862021
NM_015046.7(SETX):c.7101-92_7101-91dup rs375899109
NM_015046.7(SETX):c.7121_7122del (p.Val2374fs) rs765371601
NM_015046.7(SETX):c.7157T>C (p.Ile2386Thr) rs201887051
NM_015046.7(SETX):c.7163C>G (p.Thr2388Arg) rs765418950
NM_015046.7(SETX):c.718+151T>G rs7036889
NM_015046.7(SETX):c.718+3G>C rs2131504173
NM_015046.7(SETX):c.718+72_718+73del rs10573812
NM_015046.7(SETX):c.719-315_719-314dup rs58780019
NM_015046.7(SETX):c.719-315dup rs58780019
NM_015046.7(SETX):c.7199+23_7199+48dup rs367693125
NM_015046.7(SETX):c.7199+60C>T rs78827183
NM_015046.7(SETX):c.7288-197dup rs76034156
NM_015046.7(SETX):c.7288-239_7288-238del rs1491198305
NM_015046.7(SETX):c.7288-240del rs397741391
NM_015046.7(SETX):c.7288-259_7288-256dup rs397741391
NM_015046.7(SETX):c.7288-259_7288-257dup rs397741391
NM_015046.7(SETX):c.7288-259_7288-258dup rs397741391
NM_015046.7(SETX):c.7288-259dup rs397741391
NM_015046.7(SETX):c.7288-2A>G rs1554801819
NM_015046.7(SETX):c.7317G>C (p.Gln2439His) rs1842567381
NM_015046.7(SETX):c.7361A>C (p.Asn2454Thr)
NM_015046.7(SETX):c.7399C>G (p.Pro2467Ala) rs2131114875
NM_015046.7(SETX):c.7432A>C (p.Thr2478Pro) rs142303658
NM_015046.7(SETX):c.7439C>A (p.Ala2480Asp)
NM_015046.7(SETX):c.7448G>A (p.Gly2483Glu)
NM_015046.7(SETX):c.7488C>G (p.Asp2496Glu)
NM_015046.7(SETX):c.7516G>A (p.Ala2506Thr) rs1160553456
NM_015046.7(SETX):c.7520C>G (p.Ser2507Cys) rs1373360956
NM_015046.7(SETX):c.7568C>T (p.Thr2523Ile)
NM_015046.7(SETX):c.7588C>T (p.Pro2530Ser)
NM_015046.7(SETX):c.7612G>C (p.Asp2538His)
NM_015046.7(SETX):c.7628A>T (p.Lys2543Met)
NM_015046.7(SETX):c.7657A>G (p.Ile2553Val) rs546828646
NM_015046.7(SETX):c.7660T>C (p.Phe2554Leu) rs368269464
NM_015046.7(SETX):c.768G>C (p.Leu256=)
NM_015046.7(SETX):c.7708CCT[1] (p.Pro2571del) rs770590408
NM_015046.7(SETX):c.7719C>T (p.Gly2573=)
NM_015046.7(SETX):c.7725G>A (p.Pro2575=) rs201695580
NM_015046.7(SETX):c.7735G>A (p.Val2579Ile) rs144121978
NM_015046.7(SETX):c.7735G>T (p.Val2579Phe) rs144121978
NM_015046.7(SETX):c.7770C>A (p.Pro2590=)
NM_015046.7(SETX):c.7770C>G (p.Pro2590=)
NM_015046.7(SETX):c.7770_7771insCTACAGCAGCGG (p.Pro2590_Ala2591insLeuGlnGlnArg)
NM_015046.7(SETX):c.7775C>T (p.Ala2592Val) rs1842534708
NM_015046.7(SETX):c.7819G>A (p.Glu2607Lys)
NM_015046.7(SETX):c.7820A>G (p.Glu2607Gly) rs1554801389
NM_015046.7(SETX):c.7840G>A (p.Glu2614Lys)
NM_015046.7(SETX):c.7856A>G (p.Gln2619Arg) rs1421049695
NM_015046.7(SETX):c.785A>G (p.Lys262Arg) rs770255148
NM_015046.7(SETX):c.7875G>A (p.Pro2625=) rs536241867
NM_015046.7(SETX):c.7928A>G (p.Gln2643Arg) rs1842518697
NM_015046.7(SETX):c.7985G>A (p.Arg2662Lys) rs2131109746
NM_015046.7(SETX):c.838+333C>T rs79117874
NM_015046.7(SETX):c.838+4A>G rs1847472277
NM_015046.7(SETX):c.839-225del rs200362840
NM_015046.7(SETX):c.839-239dup rs200362840
NM_015046.7(SETX):c.847G>A (p.Val283Met)
NM_015046.7(SETX):c.8C>T (p.Thr3Ile) rs28941475
NM_015046.7(SETX):c.973A>G (p.Asn325Asp)
NM_015046.7(SETX):c.983T>C (p.Ile328Thr) rs2131468034
NM_015046.7(SETX):c.998A>C (p.Asn333Thr) rs538829833

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