ClinVar Miner

List of variants in gene SETX reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1053
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.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.1979C>G (p.Ala660Gly) rs882709 0.12168
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.3455T>G (p.Phe1152Cys) rs3739922 0.04708
NM_015046.7(SETX):c.498+20G>A rs73659013 0.02106
NM_015046.7(SETX):c.6106+14G>A rs73661157 0.01840
NM_015046.7(SETX):c.3182C>T (p.Pro1061Leu) rs12352982 0.01591
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.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.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.5781+10G>A rs537414669 0.00159
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.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.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.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.6208+17G>A rs182144319 0.00025
NM_015046.7(SETX):c.5346C>T (p.Ala1782=) rs115071007 0.00024
NM_015046.7(SETX):c.4520A>C (p.Asp1507Ala) rs138195434 0.00022
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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.1099-12C>A rs752063617 0.00002
NM_015046.7(SETX):c.1492A>G (p.Thr498Ala) rs779544809 0.00002
NM_015046.7(SETX):c.1815T>C (p.Phe605=) rs753675238 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.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.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.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.5535C>T (p.Arg1845=) rs200433173 0.00002
NM_015046.7(SETX):c.5552G>A (p.Arg1851His) rs137978070 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.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.1012A>G (p.Thr338Ala) rs999767103 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.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.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.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.2749A>C (p.Met917Leu) rs761943404 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.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.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.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.4114G>C (p.Asp1372His) rs1564539457 0.00001
NM_015046.7(SETX):c.4120A>G (p.Lys1374Glu) rs756823072 0.00001
NM_015046.7(SETX):c.4209G>A (p.Glu1403=) rs1347401564 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.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.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.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.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.5804A>G (p.Asn1935Ser) rs762791927 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.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.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.7139G>A (p.Arg2380Gln) rs145397619 0.00001
NM_015046.7(SETX):c.71A>G (p.Asn24Ser) rs981346599 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.7737C>T (p.Val2579=) rs780854409 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.998A>G (p.Asn333Ser) rs538829833 0.00001
NM_015046.7(SETX):c.99C>T (p.Ala33=) rs762914576 0.00001
NC_000009.11:g.(?_135156834)_(135156981_?)del
NC_000009.11:g.(?_135201691)_(135210134_?)del
NC_000009.11:g.(?_135209975)_(135210134_?)dup
NC_000009.12:g.(?_132264229)_(132349438_?)dup
NM_015046.6(SETX):c.6848_6851delCAGA
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.1026G>A (p.Pro342=)
NM_015046.7(SETX):c.1034A>T (p.Tyr345Phe)
NM_015046.7(SETX):c.1099-13del
NM_015046.7(SETX):c.1099-17C>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.12TTG[1] (p.Cys5del) rs774123592
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.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.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.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.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.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.1841T>C (p.Ile614Thr)
NM_015046.7(SETX):c.1844C>T (p.Ser615Phe) rs143340285
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.1910G>A (p.Cys637Tyr)
NM_015046.7(SETX):c.1919C>A (p.Ala640Asp) rs998278975
NM_015046.7(SETX):c.1919C>G (p.Ala640Gly)
NM_015046.7(SETX):c.1932A>G (p.Thr644=)
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.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.2123G>T (p.Ser708Ile) rs1554821571
NM_015046.7(SETX):c.2124T>G (p.Ser708Arg)
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>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.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.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.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.2516A>T (p.His839Leu) rs1847047743
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.2591C>T (p.Pro864Leu)
NM_015046.7(SETX):c.25C>T (p.Pro9Ser)
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.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.2972T>C (p.Val991Ala)
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.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.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.3215A>G (p.Gln1072Arg)
NM_015046.7(SETX):c.3265G>A (p.Val1089Met) rs917637229
NM_015046.7(SETX):c.3269T>G (p.Phe1090Cys)
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.3299A>G (p.Asn1100Ser) rs545072717
NM_015046.7(SETX):c.331C>T (p.Arg111Ter)
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.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.3469G>T (p.Val1157Leu) rs748505684
NM_015046.7(SETX):c.3491G>A (p.Arg1164Gln)
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.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.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.3700A>G (p.Arg1234Gly)
NM_015046.7(SETX):c.3706G>A (p.Val1236Ile)
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.3816G>T (p.Lys1272Asn)
NM_015046.7(SETX):c.3819A>G (p.Lys1273=)
NM_015046.7(SETX):c.387_388+2del
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.389-20A>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.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.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.4071A>G (p.Lys1357=)
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.4103G>T (p.Cys1368Phe) rs1445388214
NM_015046.7(SETX):c.4145A>G (p.Gln1382Arg)
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.4222A>G (p.Ser1408Gly)
NM_015046.7(SETX):c.4259A>G (p.Glu1420Gly)
NM_015046.7(SETX):c.4316T>C (p.Leu1439Ser) rs1589737441
NM_015046.7(SETX):c.4325G>A (p.Cys1442Tyr)
NM_015046.7(SETX):c.4327G>A (p.Asp1443Asn)
NM_015046.7(SETX):c.4336G>T (p.Val1446Leu) rs1477696040
NM_015046.7(SETX):c.4352T>A (p.Val1451Glu)
NM_015046.7(SETX):c.4373T>C (p.Val1458Ala)
NM_015046.7(SETX):c.4374C>T (p.Val1458=)
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.4547A>G (p.Asn1516Ser)
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.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.4641A>G (p.Thr1547=)
NM_015046.7(SETX):c.4662T>C (p.Cys1554=) rs1589736164
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.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.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.4890dup (p.Ile1631fs)
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.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.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.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.502C>T (p.Arg168Trp)
NM_015046.7(SETX):c.5059C>G (p.Pro1687Ala)
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.5148T>C (p.Phe1716=)
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.5263A>G (p.Thr1755Ala)
NM_015046.7(SETX):c.5264del (p.Thr1755fs) rs776632212
NM_015046.7(SETX):c.5275-14del rs761232500
NM_015046.7(SETX):c.528A>G (p.Arg176=)
NM_015046.7(SETX):c.5308_5311del (p.Glu1770fs) rs750959420
NM_015046.7(SETX):c.5309A>G (p.Glu1770Gly)
NM_015046.7(SETX):c.5333G>A (p.Arg1778Gln)
NM_015046.7(SETX):c.5339T>A (p.Phe1780Tyr)
NM_015046.7(SETX):c.5362T>C (p.Trp1788Arg)
NM_015046.7(SETX):c.5362T>G (p.Trp1788Gly)
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.5443C>G (p.Pro1815Ala)
NM_015046.7(SETX):c.5453T>C (p.Ile1818Thr)
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.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.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.567A>G (p.Leu189=)
NM_015046.7(SETX):c.5696G>C (p.Arg1899Pro)
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.5781+7G>A
NM_015046.7(SETX):c.5803A>G (p.Asn1935Asp) rs1443102808
NM_015046.7(SETX):c.5824A>G (p.Ile1942Val)
NM_015046.7(SETX):c.5835A>G (p.Ala1945=) rs1298267771
NM_015046.7(SETX):c.5852A>T (p.His1951Leu)
NM_015046.7(SETX):c.5858C>T (p.Pro1953Leu)
NM_015046.7(SETX):c.5893C>T (p.Pro1965Ser)
NM_015046.7(SETX):c.589T>A (p.Phe197Ile) rs1847622210
NM_015046.7(SETX):c.590T>C (p.Phe197Ser) rs1847622037
NM_015046.7(SETX):c.592A>G (p.Lys198Glu)
NM_015046.7(SETX):c.5936G>C (p.Arg1979Pro) rs761031238
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.5950-4G>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.6021A>G (p.Ala2007=)
NM_015046.7(SETX):c.6037G>A (p.Val2013Ile)
NM_015046.7(SETX):c.6106+8dup
NM_015046.7(SETX):c.6107-19C>T
NM_015046.7(SETX):c.6107-3C>T
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.617A>C (p.Glu206Ala) rs759880306
NM_015046.7(SETX):c.6181T>A (p.Leu2061Met) rs2131247894
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.6227A>C (p.His2076Pro)
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.6323A>C (p.Gln2108Pro)
NM_015046.7(SETX):c.6324+5C>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.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.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.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.6516T>G (p.Gly2172=)
NM_015046.7(SETX):c.6525C>T (p.Phe2175=)
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.6605T>G (p.Leu2202Arg)
NM_015046.7(SETX):c.6610C>T (p.Leu2204=) rs2131200445
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>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.6712G>A (p.Glu2238Lys) rs2131182464
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.6843-16dup rs34769225
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.6879A>G (p.Pro2293=)
NM_015046.7(SETX):c.68C>T (p.Ser23Phe) rs1323126988
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.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.7131C>T (p.Phe2377=)
NM_015046.7(SETX):c.7146G>A (p.Lys2382=) rs2131148463
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+18A>C rs773630853
NM_015046.7(SETX):c.718+3G>C rs2131504173
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.727A>G (p.Met243Val)
NM_015046.7(SETX):c.7288-14C>T
NM_015046.7(SETX):c.7339A>C (p.Ile2447Leu)
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.7396A>C (p.Lys2466Gln)
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.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.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.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.7708CCT[1] (p.Pro2571del) rs770590408
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.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.7786G>T (p.Ala2596Ser)
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.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.7857G>A (p.Gln2619=)
NM_015046.7(SETX):c.785A>G (p.Lys262Arg) rs770255148
NM_015046.7(SETX):c.7860C>A (p.Ser2620Arg) rs778362262
NM_015046.7(SETX):c.7875G>A (p.Pro2625=) rs536241867
NM_015046.7(SETX):c.7881G>A (p.Glu2627=)
NM_015046.7(SETX):c.7895G>T (p.Arg2632Met)
NM_015046.7(SETX):c.7924_7925delinsTT (p.Glu2642Leu)
NM_015046.7(SETX):c.792T>C (p.Asn264=)
NM_015046.7(SETX):c.7941T>C (p.Gly2647=) rs1471003365
NM_015046.7(SETX):c.7944C>T (p.Ser2648=)
NM_015046.7(SETX):c.7948_7961del (p.Thr2650fs)
NM_015046.7(SETX):c.7984del (p.Arg2662fs) rs2131109788
NM_015046.7(SETX):c.8022_8025del (p.Arg2674fs)
NM_015046.7(SETX):c.8030dup (p.Leu2677fs)
NM_015046.7(SETX):c.8031A>T (p.Leu2677Phe) rs749325764
NM_015046.7(SETX):c.80C>T (p.Ser27Phe)
NM_015046.7(SETX):c.823G>C (p.Glu275Gln) rs901741485
NM_015046.7(SETX):c.838+10T>G rs2131491563
NM_015046.7(SETX):c.839-14C>T
NM_015046.7(SETX):c.839-20A>G
NM_015046.7(SETX):c.878T>G (p.Phe293Cys)
NM_015046.7(SETX):c.879T>C (p.Phe293=)
NM_015046.7(SETX):c.896G>A (p.Arg299His)
NM_015046.7(SETX):c.912C>T (p.Val304=) rs1473756878
NM_015046.7(SETX):c.928G>A (p.Asp310Asn)
NM_015046.7(SETX):c.92A>G (p.Gln31Arg)
NM_015046.7(SETX):c.951C>T (p.Thr317=) rs1025452911
NM_015046.7(SETX):c.973A>G (p.Asn325Asp)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.