ClinVar Miner

List of variants reported as uncertain significance for Epileptic encephalopathy by Invitae

Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 1909
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HGVS dbSNP gnomAD frequency
NM_001036.6(RYR3):c.11839G>A (p.Ala3947Thr) rs201375567 0.00086
NM_001036.6(RYR3):c.6850G>A (p.Ala2284Thr) rs201633381 0.00046
NM_001036.6(RYR3):c.12367G>A (p.Val4123Met) rs114374205 0.00043
NM_001036.6(RYR3):c.12950G>A (p.Ser4317Asn) rs377371320 0.00041
NM_001036.6(RYR3):c.6835G>A (p.Val2279Met) rs41279210 0.00041
NM_001036.6(RYR3):c.9581G>A (p.Arg3194His) rs377341748 0.00037
NM_001036.6(RYR3):c.7982C>T (p.Thr2661Met) rs200246566 0.00036
NM_004104.5(FASN):c.1227G>C (p.Gln409His) rs202158849 0.00032
NM_004104.5(FASN):c.1411G>A (p.Ala471Thr) rs145247848 0.00031
NM_001036.6(RYR3):c.11296G>A (p.Val3766Ile) rs140386682 0.00030
NM_001036.6(RYR3):c.13045G>T (p.Asp4349Tyr) rs199964506 0.00029
NM_004104.5(FASN):c.6155G>C (p.Gly2052Ala) rs780846548 0.00028
NM_004104.5(FASN):c.1627G>A (p.Glu543Lys) rs202040392 0.00026
NM_004104.5(FASN):c.1907C>T (p.Pro636Leu) rs749177720 0.00026
NM_004104.5(FASN):c.382G>A (p.Val128Met) rs146811868 0.00025
NM_004104.5(FASN):c.6229G>A (p.Asp2077Asn) rs141935205 0.00025
NM_001036.6(RYR3):c.1067A>G (p.Gln356Arg) rs753622466 0.00022
NM_001036.6(RYR3):c.7523C>T (p.Thr2508Met) rs200542900 0.00022
NM_004104.5(FASN):c.5858G>A (p.Arg1953Gln) rs17848946 0.00022
NM_001036.6(RYR3):c.13620C>G (p.Ile4540Met) rs139023249 0.00021
NM_004104.5(FASN):c.1712G>A (p.Gly571Glu) rs143978140 0.00021
NM_004104.5(FASN):c.4192T>G (p.Ser1398Ala) rs1140613 0.00021
NM_001036.6(RYR3):c.12029G>A (p.Arg4010His) rs202140253 0.00020
NM_004104.5(FASN):c.4159C>T (p.Arg1387Cys) rs143896704 0.00020
NM_001036.6(RYR3):c.11569-3T>C rs370757624 0.00019
NM_001036.6(RYR3):c.4235G>C (p.Gly1412Ala) rs375881628 0.00019
NM_001036.6(RYR3):c.6833T>C (p.Ile2278Thr) rs371761769 0.00019
NM_001036.6(RYR3):c.9830+5G>A rs373984848 0.00019
NM_004104.5(FASN):c.1384G>A (p.Ala462Thr) rs141275719 0.00019
NM_004104.5(FASN):c.1579G>A (p.Val527Met) rs200000001 0.00019
NM_004104.5(FASN):c.3487G>A (p.Gly1163Arg) rs201281021 0.00019
NM_004104.5(FASN):c.6086C>T (p.Ala2029Val) rs139545909 0.00019
NM_001036.6(RYR3):c.10420G>A (p.Val3474Ile) rs201678035 0.00018
NM_001036.6(RYR3):c.4665G>A (p.Met1555Ile) rs200404286 0.00018
NM_004104.5(FASN):c.1871-4A>G rs371846334 0.00017
NM_004104.5(FASN):c.3967G>A (p.Gly1323Arg) rs377195488 0.00017
NM_004104.5(FASN):c.5062G>A (p.Ala1688Thr) rs368428251 0.00017
NM_001036.6(RYR3):c.10995+5C>T rs374675684 0.00016
NM_001036.6(RYR3):c.11902G>C (p.Ala3968Pro) rs577747200 0.00016
NM_001036.6(RYR3):c.4548C>G (p.Ser1516Arg) rs200944014 0.00016
NM_001036.6(RYR3):c.8103T>G (p.Asn2701Lys) rs192820783 0.00016
NM_001036.6(RYR3):c.8281G>A (p.Gly2761Ser) rs371979169 0.00016
NM_004104.5(FASN):c.656-3C>T rs371336911 0.00016
NM_004104.5(FASN):c.7342G>A (p.Ala2448Thr) rs201822969 0.00016
NM_001036.6(RYR3):c.12437G>T (p.Cys4146Phe) rs191637587 0.00015
NM_001036.6(RYR3):c.7781C>T (p.Ala2594Val) rs201466342 0.00015
NM_004104.5(FASN):c.3361C>T (p.Pro1121Ser) rs139131741 0.00015
NM_001036.6(RYR3):c.13000A>G (p.Asn4334Asp) rs139249269 0.00014
NM_001036.6(RYR3):c.3599G>A (p.Arg1200His) rs377298605 0.00014
NM_004104.5(FASN):c.1837G>A (p.Ala613Thr) rs201599253 0.00014
NM_004104.5(FASN):c.3455T>G (p.Val1152Gly) rs760288450 0.00014
NM_004104.5(FASN):c.5081G>A (p.Arg1694His) rs561903908 0.00014
NM_001036.6(RYR3):c.10758+6C>G rs367640896 0.00013
NM_004104.5(FASN):c.1469G>A (p.Arg490His) rs368171697 0.00013
NM_004104.5(FASN):c.1895A>T (p.Gln632Leu) rs773304473 0.00013
NM_004104.5(FASN):c.2650G>A (p.Val884Ile) rs750385551 0.00013
NM_004104.5(FASN):c.5668G>A (p.Ala1890Thr) rs139792253 0.00013
NM_004104.5(FASN):c.6638A>G (p.Gln2213Arg) rs142275662 0.00013
NM_001036.6(RYR3):c.8077G>C (p.Glu2693Gln) rs377292446 0.00012
NM_001036.6(RYR3):c.11327G>A (p.Arg3776His) rs773752097 0.00011
NM_001036.6(RYR3):c.418C>T (p.Arg140Trp) rs374959679 0.00011
NM_001036.6(RYR3):c.674G>A (p.Arg225His) rs370938489 0.00011
NM_001036.6(RYR3):c.9359C>T (p.Ser3120Leu) rs373117998 0.00011
NM_004104.5(FASN):c.101C>T (p.Thr34Met) rs758488529 0.00011
NM_004104.5(FASN):c.1024G>T (p.Ala342Ser) rs760665615 0.00011
NM_004104.5(FASN):c.1427A>G (p.Glu476Gly) rs773614310 0.00011
NM_004104.5(FASN):c.4981G>A (p.Val1661Met) rs369709982 0.00011
NM_004104.5(FASN):c.5269G>A (p.Val1757Met) rs778637882 0.00011
NM_004104.5(FASN):c.5591T>C (p.Val1864Ala) rs148568183 0.00011
NM_001036.6(RYR3):c.10099A>G (p.Ile3367Val) rs199625290 0.00010
NM_001036.6(RYR3):c.1413C>G (p.Asn471Lys) rs202001689 0.00010
NM_001036.6(RYR3):c.6443A>G (p.Asn2148Ser) rs200035756 0.00010
NM_001036.6(RYR3):c.6646G>A (p.Val2216Ile) rs201633619 0.00010
NM_004104.5(FASN):c.1403G>A (p.Arg468His) rs368756460 0.00010
NM_004104.5(FASN):c.256A>G (p.Thr86Ala) rs375732222 0.00010
NM_004104.5(FASN):c.4138C>T (p.Leu1380Phe) rs769124217 0.00010
NM_004104.5(FASN):c.5024C>T (p.Ser1675Leu) rs549111161 0.00010
NM_004104.5(FASN):c.5456G>A (p.Arg1819Gln) rs200377258 0.00010
NM_004104.5(FASN):c.841G>A (p.Gly281Arg) rs748571162 0.00010
NM_001036.6(RYR3):c.10816-6C>G rs761004881 0.00009
NM_001036.6(RYR3):c.12091C>T (p.Arg4031Cys) rs376071087 0.00009
NM_001036.6(RYR3):c.13736A>G (p.Lys4579Arg) rs375405552 0.00009
NM_001036.6(RYR3):c.14599G>A (p.Asp4867Asn) rs767355524 0.00009
NM_001036.6(RYR3):c.1904T>A (p.Leu635Gln) rs370984175 0.00009
NM_001036.6(RYR3):c.2102G>A (p.Gly701Glu) rs200346395 0.00009
NM_001036.6(RYR3):c.4607T>A (p.Ile1536Asn) rs541060757 0.00009
NM_001036.6(RYR3):c.526G>A (p.Val176Met) rs377624442 0.00009
NM_001036.6(RYR3):c.6913-7C>A rs372140871 0.00009
NM_004104.5(FASN):c.1328G>A (p.Arg443Gln) rs199956437 0.00009
NM_004104.5(FASN):c.2149A>G (p.Ile717Val) rs139717954 0.00009
NM_004104.5(FASN):c.2719G>A (p.Val907Ile) rs150461663 0.00009
NM_004104.5(FASN):c.4429C>T (p.Leu1477Phe) rs539227516 0.00009
NM_004104.5(FASN):c.4466G>A (p.Gly1489Asp) rs368486805 0.00009
NM_004104.5(FASN):c.4565-3_4565-1dup rs764277201 0.00009
NM_004104.5(FASN):c.5879C>T (p.Ala1960Val) rs139421825 0.00009
NM_004104.5(FASN):c.6307C>T (p.His2103Tyr) rs200347376 0.00009
NM_004104.5(FASN):c.6788G>A (p.Arg2263Gln) rs377735574 0.00009
NM_001036.6(RYR3):c.3083G>A (p.Arg1028His) rs575120914 0.00008
NM_001036.6(RYR3):c.4243G>A (p.Val1415Met) rs777615310 0.00008
NM_004104.5(FASN):c.1151G>A (p.Arg384His) rs201412385 0.00008
NM_004104.5(FASN):c.6235A>G (p.Ile2079Val) rs753756949 0.00008
NM_004104.5(FASN):c.6412C>T (p.Arg2138Cys) rs767876816 0.00008
NM_004104.5(FASN):c.7229G>A (p.Gly2410Asp) rs373613096 0.00008
NM_001036.6(RYR3):c.12974C>G (p.Ala4325Gly) rs772160575 0.00007
NM_001036.6(RYR3):c.1924A>G (p.Ile642Val) rs146818373 0.00007
NM_001036.6(RYR3):c.2884G>A (p.Gly962Ser) rs370535769 0.00007
NM_001036.6(RYR3):c.4124G>A (p.Arg1375Lys) rs781652433 0.00007
NM_001036.6(RYR3):c.4614G>A (p.Glu1538=) rs763874440 0.00007
NM_001036.6(RYR3):c.5357G>A (p.Gly1786Asp) rs200938517 0.00007
NM_001036.6(RYR3):c.7016T>G (p.Leu2339Arg) rs200721037 0.00007
NM_001036.6(RYR3):c.7679G>A (p.Arg2560Gln) rs376062318 0.00007
NM_004104.5(FASN):c.1468C>T (p.Arg490Cys) rs533081221 0.00007
NM_004104.5(FASN):c.1570G>A (p.Asp524Asn) rs147394389 0.00007
NM_004104.5(FASN):c.1915G>A (p.Val639Met) rs745711103 0.00007
NM_004104.5(FASN):c.1970C>T (p.Pro657Leu) rs200575117 0.00007
NM_004104.5(FASN):c.2183G>A (p.Arg728His) rs762443165 0.00007
NM_004104.5(FASN):c.2293G>T (p.Ala765Ser) rs774938033 0.00007
NM_004104.5(FASN):c.5114G>A (p.Arg1705Gln) rs534878599 0.00007
NM_004104.5(FASN):c.5393C>T (p.Ala1798Val) rs376251096 0.00007
NM_004104.5(FASN):c.6151G>A (p.Glu2051Lys) rs745655516 0.00007
NM_004104.5(FASN):c.832C>A (p.Gln278Lys) rs376469026 0.00007
NM_001036.6(RYR3):c.10654C>G (p.Pro3552Ala) rs755221573 0.00006
NM_001036.6(RYR3):c.11929G>A (p.Val3977Ile) rs539110280 0.00006
NM_001036.6(RYR3):c.11945G>A (p.Arg3982Gln) rs374921732 0.00006
NM_001036.6(RYR3):c.11953G>A (p.Glu3985Lys) rs760780316 0.00006
NM_001036.6(RYR3):c.12431T>C (p.Met4144Thr) rs747261018 0.00006
NM_001036.6(RYR3):c.12617T>C (p.Ile4206Thr) rs764000824 0.00006
NM_001036.6(RYR3):c.12664G>A (p.Gly4222Arg) rs892836302 0.00006
NM_001036.6(RYR3):c.1279C>T (p.Arg427Cys) rs776720726 0.00006
NM_001036.6(RYR3):c.1280G>A (p.Arg427His) rs765542021 0.00006
NM_001036.6(RYR3):c.13379C>T (p.Ala4460Val) rs775356788 0.00006
NM_001036.6(RYR3):c.13811T>C (p.Ile4604Thr) rs377310965 0.00006
NM_001036.6(RYR3):c.13948G>A (p.Ala4650Thr) rs368466725 0.00006
NM_001036.6(RYR3):c.14098G>A (p.Glu4700Lys) rs201221837 0.00006
NM_001036.6(RYR3):c.1472G>A (p.Arg491His) rs747970625 0.00006
NM_001036.6(RYR3):c.1585C>T (p.Arg529Cys) rs753712777 0.00006
NM_001036.6(RYR3):c.3092A>T (p.Lys1031Met) rs753104655 0.00006
NM_001036.6(RYR3):c.3328C>A (p.Pro1110Thr) rs201820155 0.00006
NM_001036.6(RYR3):c.3728C>T (p.Thr1243Met) rs550824274 0.00006
NM_001036.6(RYR3):c.4297A>G (p.Thr1433Ala) rs201020040 0.00006
NM_001036.6(RYR3):c.4540C>T (p.Arg1514Cys) rs375458327 0.00006
NM_001036.6(RYR3):c.5125C>T (p.His1709Tyr) rs534126465 0.00006
NM_001036.6(RYR3):c.5834C>T (p.Pro1945Leu) rs375210672 0.00006
NM_001036.6(RYR3):c.7672C>A (p.Leu2558Ile) rs373413299 0.00006
NM_001036.6(RYR3):c.776G>A (p.Arg259Gln) rs752846417 0.00006
NM_001036.6(RYR3):c.8342G>A (p.Arg2781Gln) rs375015024 0.00006
NM_001036.6(RYR3):c.8939G>T (p.Arg2980Leu) rs200346049 0.00006
NM_001036.6(RYR3):c.9877C>T (p.Arg3293Cys) rs138636427 0.00006
NM_004104.5(FASN):c.1591G>A (p.Gly531Ser) rs765536318 0.00006
NM_004104.5(FASN):c.2186C>T (p.Thr729Met) rs202169855 0.00006
NM_004104.5(FASN):c.2315A>G (p.Lys772Arg) rs777552567 0.00006
NM_004104.5(FASN):c.2569C>T (p.Pro857Ser) rs747653984 0.00006
NM_004104.5(FASN):c.2860G>C (p.Val954Leu) rs375736977 0.00006
NM_004104.5(FASN):c.3214A>G (p.Lys1072Glu) rs376111170 0.00006
NM_004104.5(FASN):c.3392G>A (p.Arg1131His) rs147660865 0.00006
NM_004104.5(FASN):c.4385G>A (p.Arg1462Gln) rs140112183 0.00006
NM_004104.5(FASN):c.5056G>A (p.Ala1686Thr) rs778912716 0.00006
NM_004104.5(FASN):c.5495A>G (p.His1832Arg) rs559153593 0.00006
NM_004104.5(FASN):c.5755G>A (p.Gly1919Arg) rs748930040 0.00006
NM_004104.5(FASN):c.5788C>T (p.Arg1930Cys) rs143560521 0.00006
NM_004104.5(FASN):c.5927G>A (p.Arg1976Lys) rs45489599 0.00006
NM_004104.5(FASN):c.6130A>G (p.Ile2044Val) rs375139880 0.00006
NM_004104.5(FASN):c.6539G>A (p.Arg2180Gln) rs755594667 0.00006
NM_004104.5(FASN):c.653C>T (p.Ala218Val) rs566134569 0.00006
NM_004104.5(FASN):c.6563A>G (p.Gln2188Arg) rs1057344564 0.00006
NM_004104.5(FASN):c.6698G>A (p.Arg2233Gln) rs377568390 0.00006
NM_004104.5(FASN):c.7420G>A (p.Val2474Ile) rs759061770 0.00006
NM_001036.6(RYR3):c.10507C>T (p.Arg3503Cys) rs367775699 0.00005
NM_001036.6(RYR3):c.10813G>A (p.Glu3605Lys) rs369689229 0.00005
NM_001036.6(RYR3):c.10995+6G>A rs758261396 0.00005
NM_001036.6(RYR3):c.11864C>T (p.Thr3955Met) rs369246005 0.00005
NM_001036.6(RYR3):c.12884G>T (p.Gly4295Val) rs376839056 0.00005
NM_001036.6(RYR3):c.13438C>G (p.Leu4480Val) rs1475380781 0.00005
NM_001036.6(RYR3):c.287A>G (p.Gln96Arg) rs757712511 0.00005
NM_001036.6(RYR3):c.3535G>A (p.Ala1179Thr) rs368220434 0.00005
NM_001036.6(RYR3):c.4431T>G (p.Ser1477Arg) rs377360254 0.00005
NM_001036.6(RYR3):c.4759T>A (p.Ser1587Thr) rs374841951 0.00005
NM_001036.6(RYR3):c.5141T>C (p.Val1714Ala) rs374176908 0.00005
NM_001036.6(RYR3):c.5461C>T (p.His1821Tyr) rs766712025 0.00005
NM_001036.6(RYR3):c.5582G>A (p.Arg1861Gln) rs564412519 0.00005
NM_001036.6(RYR3):c.6452C>T (p.Ala2151Val) rs748718316 0.00005
NM_001036.6(RYR3):c.708A>G (p.Ile236Met) rs966003933 0.00005
NM_001036.6(RYR3):c.8519C>G (p.Ala2840Gly) rs757827471 0.00005
NM_001036.6(RYR3):c.8876A>G (p.Asn2959Ser) rs749674166 0.00005
NM_001036.6(RYR3):c.9664C>G (p.Leu3222Val) rs911946537 0.00005
NM_004104.5(FASN):c.1372G>A (p.Ala458Thr) rs146838277 0.00005
NM_004104.5(FASN):c.1459G>A (p.Ala487Thr) rs372434423 0.00005
NM_004104.5(FASN):c.1472C>T (p.Pro491Leu) rs769395951 0.00005
NM_004104.5(FASN):c.1564C>T (p.Arg522Cys) rs368896751 0.00005
NM_004104.5(FASN):c.2101G>C (p.Val701Leu) rs201027447 0.00005
NM_004104.5(FASN):c.2522C>T (p.Ala841Val) rs564753436 0.00005
NM_004104.5(FASN):c.3133G>A (p.Gly1045Ser) rs112444332 0.00005
NM_004104.5(FASN):c.338G>T (p.Gly113Val) rs368154345 0.00005
NM_004104.5(FASN):c.3596C>T (p.Ala1199Val) rs778879288 0.00005
NM_004104.5(FASN):c.365G>A (p.Arg122Gln) rs139728499 0.00005
NM_004104.5(FASN):c.3856G>A (p.Glu1286Lys) rs776776391 0.00005
NM_004104.5(FASN):c.4522G>A (p.Asp1508Asn) rs375080347 0.00005
NM_004104.5(FASN):c.4633C>T (p.Arg1545Cys) rs150970220 0.00005
NM_004104.5(FASN):c.5053A>G (p.Ile1685Val) rs899592172 0.00005
NM_004104.5(FASN):c.5560G>A (p.Val1854Met) rs369551210 0.00005
NM_004104.5(FASN):c.5789G>A (p.Arg1930His) rs771438093 0.00005
NM_004104.5(FASN):c.5791C>T (p.Arg1931Trp) rs778266290 0.00005
NM_004104.5(FASN):c.7135G>C (p.Glu2379Gln) rs778424897 0.00005
NM_004104.5(FASN):c.85G>A (p.Gly29Ser) rs762641757 0.00005
NM_005458.8(GABBR2):c.1893+6C>A rs768251779 0.00005
NM_001036.6(RYR3):c.10037A>G (p.Gln3346Arg) rs368430766 0.00004
NM_001036.6(RYR3):c.10174C>T (p.Leu3392Phe) rs1024556759 0.00004
NM_001036.6(RYR3):c.10258-3C>A rs377008103 0.00004
NM_001036.6(RYR3):c.10346A>G (p.Glu3449Gly) rs756934182 0.00004
NM_001036.6(RYR3):c.10508G>A (p.Arg3503His) rs372700273 0.00004
NM_001036.6(RYR3):c.10693C>G (p.Leu3565Val) rs111761846 0.00004
NM_001036.6(RYR3):c.1111G>A (p.Ala371Thr) rs771648147 0.00004
NM_001036.6(RYR3):c.11474T>A (p.Ile3825Asn) rs558254515 0.00004
NM_001036.6(RYR3):c.11755C>G (p.Leu3919Val) rs372530911 0.00004
NM_001036.6(RYR3):c.11891C>T (p.Ser3964Leu) rs750201337 0.00004
NM_001036.6(RYR3):c.1204C>T (p.Arg402Cys) rs754291567 0.00004
NM_001036.6(RYR3):c.12158G>A (p.Arg4053His) rs1311433743 0.00004
NM_001036.6(RYR3):c.12978+3A>G rs775487863 0.00004
NM_001036.6(RYR3):c.1342G>A (p.Ala448Thr) rs780150644 0.00004
NM_001036.6(RYR3):c.13820A>T (p.Lys4607Met) rs555103509 0.00004
NM_001036.6(RYR3):c.1471C>T (p.Arg491Cys) rs781202685 0.00004
NM_001036.6(RYR3):c.1573+4A>G rs752704653 0.00004
NM_001036.6(RYR3):c.3124C>T (p.Arg1042Cys) rs200709496 0.00004
NM_001036.6(RYR3):c.3334G>A (p.Val1112Ile) rs757239023 0.00004
NM_001036.6(RYR3):c.3337G>A (p.Glu1113Lys) rs745955551 0.00004
NM_001036.6(RYR3):c.3373G>A (p.Gly1125Ser) rs754600756 0.00004
NM_001036.6(RYR3):c.349G>A (p.Gly117Arg) rs368972337 0.00004
NM_001036.6(RYR3):c.4168G>A (p.Val1390Ile) rs138445751 0.00004
NM_001036.6(RYR3):c.4474G>A (p.Val1492Ile) rs202225145 0.00004
NM_001036.6(RYR3):c.4509G>A (p.Met1503Ile) rs199964676 0.00004
NM_001036.6(RYR3):c.4698C>T (p.Ser1566=) rs563422149 0.00004
NM_001036.6(RYR3):c.4922G>A (p.Arg1641His) rs373416062 0.00004
NM_001036.6(RYR3):c.5042A>G (p.Lys1681Arg) rs200288877 0.00004
NM_001036.6(RYR3):c.5209G>A (p.Val1737Met) rs561525049 0.00004
NM_001036.6(RYR3):c.5861-3C>T rs749850251 0.00004
NM_001036.6(RYR3):c.6435G>C (p.Met2145Ile) rs541189878 0.00004
NM_001036.6(RYR3):c.6556G>T (p.Gly2186Cys) rs754370784 0.00004
NM_001036.6(RYR3):c.7855A>G (p.Thr2619Ala) rs201310633 0.00004
NM_001036.6(RYR3):c.8215G>A (p.Val2739Met) rs533878383 0.00004
NM_001036.6(RYR3):c.8539A>G (p.Thr2847Ala) rs766762265 0.00004
NM_001036.6(RYR3):c.9142C>T (p.Arg3048Cys) rs763223227 0.00004
NM_001036.6(RYR3):c.9263G>T (p.Arg3088Met) rs780806800 0.00004
NM_001036.6(RYR3):c.9346G>A (p.Asp3116Asn) rs762199883 0.00004
NM_001036.6(RYR3):c.961C>T (p.Arg321Trp) rs754630934 0.00004
NM_001036.6(RYR3):c.9625G>A (p.Asp3209Asn) rs536504096 0.00004
NM_001036.6(RYR3):c.9715G>A (p.Asp3239Asn) rs200275874 0.00004
NM_001036.6(RYR3):c.9802A>G (p.Met3268Val) rs766980461 0.00004
NM_001036.6(RYR3):c.9917A>G (p.His3306Arg) rs764702884 0.00004
NM_004104.5(FASN):c.1223C>T (p.Thr408Met) rs756490191 0.00004
NM_004104.5(FASN):c.1237G>A (p.Ala413Thr) rs373548684 0.00004
NM_004104.5(FASN):c.1291C>T (p.Pro431Ser) rs140653754 0.00004
NM_004104.5(FASN):c.1300G>A (p.Val434Met) rs539939995 0.00004
NM_004104.5(FASN):c.1682T>C (p.Ile561Thr) rs148219546 0.00004
NM_004104.5(FASN):c.2107C>T (p.Arg703Trp) rs768238548 0.00004
NM_004104.5(FASN):c.2189C>T (p.Ser730Phe) rs770233064 0.00004
NM_004104.5(FASN):c.2539G>A (p.Ala847Thr) rs762057164 0.00004
NM_004104.5(FASN):c.2555A>G (p.Asn852Ser) rs540009159 0.00004
NM_004104.5(FASN):c.2593G>A (p.Asp865Asn) rs199546508 0.00004
NM_004104.5(FASN):c.2807G>A (p.Arg936Gln) rs368158462 0.00004
NM_004104.5(FASN):c.319G>A (p.Val107Ile) rs549669954 0.00004
NM_004104.5(FASN):c.3330G>C (p.Gln1110His) rs755685212 0.00004
NM_004104.5(FASN):c.3394G>A (p.Ala1132Thr) rs780758635 0.00004
NM_004104.5(FASN):c.3477G>A (p.Met1159Ile) rs770326601 0.00004
NM_004104.5(FASN):c.3511C>T (p.Arg1171Trp) rs754866865 0.00004
NM_004104.5(FASN):c.3512G>A (p.Arg1171Gln) rs199937454 0.00004
NM_004104.5(FASN):c.3523C>A (p.Gln1175Lys) rs765996191 0.00004
NM_004104.5(FASN):c.367G>A (p.Asp123Asn) rs374319954 0.00004
NM_004104.5(FASN):c.3812C>T (p.Thr1271Met) rs374632164 0.00004
NM_004104.5(FASN):c.3854C>T (p.Ala1285Val) rs765457818 0.00004
NM_004104.5(FASN):c.3898G>A (p.Ala1300Thr) rs746365737 0.00004
NM_004104.5(FASN):c.4316G>A (p.Arg1439Gln) rs774722489 0.00004
NM_004104.5(FASN):c.4471G>A (p.Ala1491Thr) rs748423164 0.00004
NM_004104.5(FASN):c.4790G>A (p.Ser1597Asn) rs942531782 0.00004
NM_004104.5(FASN):c.5075G>T (p.Gly1692Val) rs985360673 0.00004
NM_004104.5(FASN):c.5117C>T (p.Ala1706Val) rs773684317 0.00004
NM_004104.5(FASN):c.5153C>T (p.Thr1718Ile) rs757842815 0.00004
NM_004104.5(FASN):c.5440G>A (p.Val1814Met) rs764074549 0.00004
NM_004104.5(FASN):c.5582C>T (p.Pro1861Leu) rs756983531 0.00004
NM_004104.5(FASN):c.5702C>T (p.Ala1901Val) rs759583791 0.00004
NM_004104.5(FASN):c.5720G>A (p.Arg1907His) rs142766883 0.00004
NM_004104.5(FASN):c.5762G>A (p.Arg1921Gln) rs148026894 0.00004
NM_004104.5(FASN):c.592G>A (p.Val198Met) rs777202040 0.00004
NM_004104.5(FASN):c.628G>A (p.Gly210Ser) rs373243965 0.00004
NM_004104.5(FASN):c.6526G>A (p.Val2176Met) rs778511525 0.00004
NM_004104.5(FASN):c.655+3G>T rs767012490 0.00004
NM_004104.5(FASN):c.6709G>A (p.Val2237Met) rs779448861 0.00004
NM_004104.5(FASN):c.6824G>A (p.Arg2275Gln) rs758520407 0.00004
NM_004104.5(FASN):c.7365C>T (p.Gly2455=) rs369165896 0.00004
NM_004104.5(FASN):c.836C>T (p.Ser279Leu) rs377076774 0.00004
NM_005458.8(GABBR2):c.1036C>T (p.Arg346Trp) rs952504124 0.00004
NM_005458.8(GABBR2):c.2621C>A (p.Thr874Lys) rs1363876623 0.00004
NM_005458.8(GABBR2):c.814A>G (p.Met272Val) rs981756907 0.00004
NM_001036.6(RYR3):c.10155C>T (p.Gly3385=) rs781218159 0.00003
NM_001036.6(RYR3):c.10720G>A (p.Asp3574Asn) rs370636001 0.00003
NM_001036.6(RYR3):c.11386G>C (p.Glu3796Gln) rs767089690 0.00003
NM_001036.6(RYR3):c.11441A>G (p.Asn3814Ser) rs776225973 0.00003
NM_001036.6(RYR3):c.11515G>A (p.Ala3839Thr) rs200724737 0.00003
NM_001036.6(RYR3):c.12076G>A (p.Glu4026Lys) rs573502706 0.00003
NM_001036.6(RYR3):c.1234C>T (p.Arg412Trp) rs772848050 0.00003
NM_001036.6(RYR3):c.12514G>A (p.Val4172Met) rs377237772 0.00003
NM_001036.6(RYR3):c.12886C>A (p.Pro4296Thr) rs369559898 0.00003
NM_001036.6(RYR3):c.12889G>C (p.Glu4297Gln) rs752948099 0.00003
NM_001036.6(RYR3):c.13153G>A (p.Glu4385Lys) rs770201518 0.00003
NM_001036.6(RYR3):c.13802T>C (p.Leu4601Pro) rs1014332640 0.00003
NM_001036.6(RYR3):c.13860C>G (p.Asn4620Lys) rs567024433 0.00003
NM_001036.6(RYR3):c.14007+4T>C rs201894323 0.00003
NM_001036.6(RYR3):c.14128G>A (p.Asp4710Asn) rs431825174 0.00003
NM_001036.6(RYR3):c.14585G>A (p.Arg4862His) rs765872802 0.00003
NM_001036.6(RYR3):c.1876C>T (p.Arg626Trp) rs760906719 0.00003
NM_001036.6(RYR3):c.1945G>C (p.Gly649Arg) rs368209451 0.00003
NM_001036.6(RYR3):c.2083G>A (p.Gly695Arg) rs776048938 0.00003
NM_001036.6(RYR3):c.3598C>T (p.Arg1200Cys) rs757627554 0.00003
NM_001036.6(RYR3):c.3815C>T (p.Thr1272Met) rs200621978 0.00003
NM_001036.6(RYR3):c.4151G>A (p.Arg1384His) rs746486931 0.00003
NM_001036.6(RYR3):c.4210C>T (p.Arg1404Trp) rs367755953 0.00003
NM_001036.6(RYR3):c.4219G>A (p.Val1407Met) rs1430659504 0.00003
NM_001036.6(RYR3):c.4381C>T (p.Leu1461Phe) rs772157944 0.00003
NM_001036.6(RYR3):c.4483A>G (p.Ile1495Val) rs553354987 0.00003
NM_001036.6(RYR3):c.4553G>A (p.Arg1518His) rs201954117 0.00003
NM_001036.6(RYR3):c.4750G>A (p.Val1584Met) rs372149967 0.00003
NM_001036.6(RYR3):c.4991G>C (p.Gly1664Ala) rs762176717 0.00003
NM_001036.6(RYR3):c.5173G>A (p.Val1725Met) rs768262446 0.00003
NM_001036.6(RYR3):c.6208A>G (p.Met2070Val) rs769938343 0.00003
NM_001036.6(RYR3):c.6359A>G (p.Glu2120Gly) rs370232598 0.00003
NM_001036.6(RYR3):c.6874C>A (p.Leu2292Ile) rs767314207 0.00003
NM_001036.6(RYR3):c.6912C>T (p.His2304=) rs766854398 0.00003
NM_001036.6(RYR3):c.6937G>A (p.Ala2313Thr) rs373358710 0.00003
NM_001036.6(RYR3):c.7259C>T (p.Ala2420Val) rs752463552 0.00003
NM_001036.6(RYR3):c.7268C>T (p.Pro2423Leu) rs747474248 0.00003
NM_001036.6(RYR3):c.7613C>T (p.Thr2538Met) rs576237958 0.00003
NM_001036.6(RYR3):c.7802A>G (p.Lys2601Arg) rs754866375 0.00003
NM_001036.6(RYR3):c.7870C>T (p.His2624Tyr) rs1353768684 0.00003
NM_001036.6(RYR3):c.8114G>A (p.Arg2705Gln) rs759749942 0.00003
NM_001036.6(RYR3):c.8341C>T (p.Arg2781Trp) rs772102927 0.00003
NM_001036.6(RYR3):c.860G>A (p.Arg287Gln) rs553041018 0.00003
NM_001036.6(RYR3):c.8773A>G (p.Met2925Val) rs778795375 0.00003
NM_001036.6(RYR3):c.8945A>G (p.Gln2982Arg) rs762655537 0.00003
NM_001036.6(RYR3):c.9217C>T (p.Arg3073Cys) rs368231214 0.00003
NM_001036.6(RYR3):c.926C>T (p.Ala309Val) rs1439048896 0.00003
NM_001036.6(RYR3):c.9830+4C>T rs371105087 0.00003
NM_004104.5(FASN):c.1090C>T (p.Pro364Ser) rs779558418 0.00003
NM_004104.5(FASN):c.1327C>T (p.Arg443Trp) rs761357571 0.00003
NM_004104.5(FASN):c.1798G>A (p.Val600Ile) rs137937996 0.00003
NM_004104.5(FASN):c.1909G>C (p.Gly637Arg) rs569360175 0.00003
NM_004104.5(FASN):c.2644G>A (p.Gly882Ser) rs748305734 0.00003
NM_004104.5(FASN):c.2800G>A (p.Glu934Lys) rs746105716 0.00003
NM_004104.5(FASN):c.2835G>C (p.Glu945Asp) rs374021258 0.00003
NM_004104.5(FASN):c.2916G>A (p.Pro972=) rs373200316 0.00003
NM_004104.5(FASN):c.2984G>A (p.Arg995His) rs376650647 0.00003
NM_004104.5(FASN):c.3314G>A (p.Arg1105Gln) rs774227498 0.00003
NM_004104.5(FASN):c.3539G>A (p.Arg1180Gln) rs767153681 0.00003
NM_004104.5(FASN):c.355G>A (p.Ala119Thr) rs755362571 0.00003
NM_004104.5(FASN):c.3676G>A (p.Ala1226Thr) rs756978037 0.00003
NM_004104.5(FASN):c.3733-3C>T rs373720813 0.00003
NM_004104.5(FASN):c.3764G>A (p.Arg1255His) rs376976258 0.00003
NM_004104.5(FASN):c.3871G>A (p.Asp1291Asn) rs1220922089 0.00003
NM_004104.5(FASN):c.4054C>T (p.Pro1352Ser) rs1215065702 0.00003
NM_004104.5(FASN):c.4267C>T (p.Arg1423Cys) rs772178615 0.00003
NM_004104.5(FASN):c.4493A>C (p.Gln1498Pro) rs755163700 0.00003
NM_004104.5(FASN):c.4655G>A (p.Arg1552His) rs774834763 0.00003
NM_004104.5(FASN):c.4834C>T (p.Arg1612Cys) rs768725656 0.00003
NM_004104.5(FASN):c.4984C>T (p.Arg1662Cys) rs757523333 0.00003
NM_004104.5(FASN):c.4991G>A (p.Arg1664Gln) rs199547232 0.00003
NM_004104.5(FASN):c.5103G>A (p.Ser1701=) rs752285807 0.00003
NM_004104.5(FASN):c.5423G>A (p.Arg1808Gln) rs151134760 0.00003
NM_004104.5(FASN):c.5435C>T (p.Ala1812Val) rs781407421 0.00003
NM_004104.5(FASN):c.5455C>T (p.Arg1819Trp) rs369955820 0.00003
NM_004104.5(FASN):c.5573C>T (p.Ala1858Val) rs376946680 0.00003
NM_004104.5(FASN):c.5602G>T (p.Ala1868Ser) rs766994323 0.00003
NM_004104.5(FASN):c.5780A>T (p.Lys1927Met) rs1031331795 0.00003
NM_004104.5(FASN):c.5801G>A (p.Arg1934His) rs200897153 0.00003
NM_004104.5(FASN):c.5917G>A (p.Val1973Met) rs758996208 0.00003
NM_004104.5(FASN):c.6145C>T (p.Arg2049Trp) rs774467499 0.00003
NM_004104.5(FASN):c.6172G>A (p.Val2058Met) rs752767411 0.00003
NM_004104.5(FASN):c.6300C>G (p.Asn2100Lys) rs1293906173 0.00003
NM_004104.5(FASN):c.6350C>T (p.Ala2117Val) rs200770181 0.00003
NM_004104.5(FASN):c.6508C>T (p.Leu2170Phe) rs746904826 0.00003
NM_004104.5(FASN):c.6719C>T (p.Ser2240Leu) rs17848948 0.00003
NM_004104.5(FASN):c.7202T>C (p.Val2401Ala) rs748827970 0.00003
NM_004104.5(FASN):c.7237C>T (p.Arg2413Cys) rs765469966 0.00003
NM_004104.5(FASN):c.7327G>A (p.Val2443Met) rs750541652 0.00003
NM_004104.5(FASN):c.882C>T (p.Gly294=) rs1249647390 0.00003
NM_004104.5(FASN):c.995C>T (p.Pro332Leu) rs765653931 0.00003
NM_005458.8(GABBR2):c.131G>A (p.Arg44Gln) rs765018232 0.00003
NM_005458.8(GABBR2):c.1708G>A (p.Ala570Thr) rs772058401 0.00003
NM_005458.8(GABBR2):c.1910G>A (p.Arg637Gln) rs78208670 0.00003
NM_005458.8(GABBR2):c.400G>A (p.Val134Ile) rs764365066 0.00003
NM_005458.8(GABBR2):c.805G>A (p.Glu269Lys) rs138148830 0.00003
NM_001036.6(RYR3):c.10048C>T (p.Arg3350Trp) rs377377472 0.00002
NM_001036.6(RYR3):c.10349G>A (p.Arg3450His) rs778606179 0.00002
NM_001036.6(RYR3):c.10568C>T (p.Ser3523Phe) rs775906033 0.00002
NM_001036.6(RYR3):c.10585G>A (p.Val3529Ile) rs186218390 0.00002
NM_001036.6(RYR3):c.10684C>T (p.Arg3562Cys) rs779158082 0.00002
NM_001036.6(RYR3):c.10685G>A (p.Arg3562His) rs780080294 0.00002
NM_001036.6(RYR3):c.10826T>C (p.Met3609Thr) rs776872340 0.00002
NM_001036.6(RYR3):c.10906G>A (p.Ala3636Thr) rs758369363 0.00002
NM_001036.6(RYR3):c.10931T>C (p.Met3644Thr) rs781316953 0.00002
NM_001036.6(RYR3):c.11198G>A (p.Arg3733His) rs374140172 0.00002
NM_001036.6(RYR3):c.11255A>G (p.Asn3752Ser) rs896349674 0.00002
NM_001036.6(RYR3):c.1157A>G (p.His386Arg) rs759551484 0.00002
NM_001036.6(RYR3):c.11910G>T (p.Glu3970Asp) rs372999570 0.00002
NM_001036.6(RYR3):c.12887C>G (p.Pro4296Arg) rs770116543 0.00002
NM_001036.6(RYR3):c.1289C>T (p.Ala430Val) rs752007601 0.00002
NM_001036.6(RYR3):c.13103A>C (p.Glu4368Ala) rs372365285 0.00002
NM_001036.6(RYR3):c.13609C>T (p.Arg4537Cys) rs768358263 0.00002
NM_001036.6(RYR3):c.13781C>T (p.Ala4594Val) rs781372766 0.00002
NM_001036.6(RYR3):c.13784C>G (p.Ala4595Gly) rs770077165 0.00002
NM_001036.6(RYR3):c.13913A>G (p.Asn4638Ser) rs778736021 0.00002
NM_001036.6(RYR3):c.14104G>A (p.Asp4702Asn) rs909959183 0.00002
NM_001036.6(RYR3):c.1606G>A (p.Ala536Thr) rs868245910 0.00002
NM_001036.6(RYR3):c.1788+4G>A rs1248271851 0.00002
NM_001036.6(RYR3):c.191G>A (p.Cys64Tyr) rs761781474 0.00002
NM_001036.6(RYR3):c.1987G>A (p.Glu663Lys) rs750313484 0.00002
NM_001036.6(RYR3):c.2005G>A (p.Val669Met) rs374941142 0.00002
NM_001036.6(RYR3):c.2353G>A (p.Val785Ile) rs374380667 0.00002
NM_001036.6(RYR3):c.2677A>G (p.Lys893Glu) rs1332431637 0.00002
NM_001036.6(RYR3):c.2872A>G (p.Met958Val) rs780712251 0.00002
NM_001036.6(RYR3):c.3041A>G (p.Lys1014Arg) rs942257120 0.00002
NM_001036.6(RYR3):c.3113G>A (p.Arg1038Gln) rs369597197 0.00002
NM_001036.6(RYR3):c.3349G>A (p.Asp1117Asn) rs373688734 0.00002
NM_001036.6(RYR3):c.3466G>A (p.Asp1156Asn) rs867518878 0.00002
NM_001036.6(RYR3):c.3819T>G (p.His1273Gln) rs766607821 0.00002
NM_001036.6(RYR3):c.4700C>T (p.Ala1567Val) rs375544562 0.00002
NM_001036.6(RYR3):c.4708G>A (p.Ala1570Thr) rs774393965 0.00002
NM_001036.6(RYR3):c.4723C>T (p.Arg1575Cys) rs1417583973 0.00002
NM_001036.6(RYR3):c.4936G>A (p.Glu1646Lys) rs376032202 0.00002
NM_001036.6(RYR3):c.5279C>T (p.Ala1760Val) rs777812122 0.00002
NM_001036.6(RYR3):c.5356G>A (p.Gly1786Ser) rs759581452 0.00002
NM_001036.6(RYR3):c.5398C>A (p.Pro1800Thr) rs747723845 0.00002
NM_001036.6(RYR3):c.5446G>A (p.Asp1816Asn) rs765473326 0.00002
NM_001036.6(RYR3):c.556G>A (p.Val186Ile) rs761547558 0.00002
NM_001036.6(RYR3):c.5685G>T (p.Glu1895Asp) rs749924697 0.00002
NM_001036.6(RYR3):c.6045C>G (p.Ile2015Met) rs765617465 0.00002
NM_001036.6(RYR3):c.6478G>A (p.Glu2160Lys) rs771787332 0.00002
NM_001036.6(RYR3):c.6670C>T (p.Arg2224Cys) rs1188037949 0.00002
NM_001036.6(RYR3):c.7061C>T (p.Ala2354Val) rs770979189 0.00002
NM_001036.6(RYR3):c.720C>A (p.Asp240Glu) rs766700534 0.00002
NM_001036.6(RYR3):c.7643C>T (p.Ser2548Leu) rs750619066 0.00002
NM_001036.6(RYR3):c.7774G>A (p.Val2592Met) rs764854998 0.00002
NM_001036.6(RYR3):c.809G>A (p.Arg270Gln) rs756729023 0.00002
NM_001036.6(RYR3):c.815+6G>A rs991186397 0.00002
NM_001036.6(RYR3):c.8158C>T (p.Pro2720Ser) rs755555885 0.00002
NM_001036.6(RYR3):c.8164G>A (p.Asp2722Asn) rs376553827 0.00002
NM_001036.6(RYR3):c.8382T>G (p.Asn2794Lys) rs1424805766 0.00002
NM_001036.6(RYR3):c.8843T>C (p.Leu2948Pro) rs372756613 0.00002
NM_001036.6(RYR3):c.8942C>T (p.Thr2981Met) rs772909971 0.00002
NM_001036.6(RYR3):c.9005C>T (p.Thr3002Met) rs776121340 0.00002
NM_001036.6(RYR3):c.9022G>A (p.Val3008Ile) rs772748749 0.00002
NM_001036.6(RYR3):c.9218G>A (p.Arg3073His) rs759949044 0.00002
NM_001036.6(RYR3):c.9234G>A (p.Ser3078=) rs777159610 0.00002
NM_001036.6(RYR3):c.9287C>T (p.Thr3096Met) rs777925575 0.00002
NM_001036.6(RYR3):c.9727G>T (p.Asp3243Tyr) rs1294722820 0.00002
NM_001036.6(RYR3):c.9811C>T (p.Arg3271Cys) rs200295482 0.00002
NM_001036.6(RYR3):c.9853G>A (p.Asp3285Asn) rs201512313 0.00002
NM_004104.5(FASN):c.1229C>T (p.Pro410Leu) rs370340494 0.00002
NM_004104.5(FASN):c.1244C>T (p.Ala415Val) rs373067136 0.00002
NM_004104.5(FASN):c.1274G>A (p.Arg425Gln) rs747164236 0.00002
NM_004104.5(FASN):c.137G>A (p.Gly46Asp) rs772395979 0.00002
NM_004104.5(FASN):c.145C>T (p.Arg49Trp) rs774656123 0.00002
NM_004104.5(FASN):c.1464C>T (p.Gly488=) rs757084318 0.00002
NM_004104.5(FASN):c.1492+6C>T rs762295115 0.00002
NM_004104.5(FASN):c.152C>T (p.Ser51Phe) rs779797169 0.00002
NM_004104.5(FASN):c.1576G>T (p.Ala526Ser) rs779573465 0.00002
NM_004104.5(FASN):c.1645A>G (p.Ile549Val) rs759026158 0.00002
NM_004104.5(FASN):c.1648G>A (p.Val550Ile) rs779383660 0.00002
NM_004104.5(FASN):c.1655C>T (p.Ser552Leu) rs1160353932 0.00002
NM_004104.5(FASN):c.1680+4G>C rs760777708 0.00002
NM_004104.5(FASN):c.1855G>A (p.Ala619Thr) rs760364227 0.00002
NM_004104.5(FASN):c.2026C>T (p.Arg676Trp) rs759454700 0.00002
NM_004104.5(FASN):c.2557G>A (p.Gly853Ser) rs759542635 0.00002
NM_004104.5(FASN):c.2657T>A (p.Phe886Tyr) rs761731297 0.00002
NM_004104.5(FASN):c.2702G>A (p.Arg901His) rs369433486 0.00002
NM_004104.5(FASN):c.2705C>A (p.Ala902Asp) rs1315865366 0.00002
NM_004104.5(FASN):c.2864G>C (p.Ser955Thr) rs201286169 0.00002
NM_004104.5(FASN):c.286A>C (p.Asn96His) rs778170635 0.00002
NM_004104.5(FASN):c.2881T>C (p.Trp961Arg) rs763326290 0.00002
NM_004104.5(FASN):c.2963C>G (p.Ala988Gly) rs767896302 0.00002
NM_004104.5(FASN):c.2983C>T (p.Arg995Cys) rs148696950 0.00002
NM_004104.5(FASN):c.3050C>T (p.Ser1017Leu) rs373840426 0.00002
NM_004104.5(FASN):c.3172G>A (p.Asp1058Asn) rs768695138 0.00002
NM_004104.5(FASN):c.3274G>A (p.Val1092Ile) rs771821775 0.00002
NM_004104.5(FASN):c.3302C>T (p.Ser1101Leu) rs143739434 0.00002
NM_004104.5(FASN):c.3368C>T (p.Thr1123Met) rs760902072 0.00002
NM_004104.5(FASN):c.3623A>G (p.Lys1208Arg) rs761471160 0.00002
NM_004104.5(FASN):c.3633G>C (p.Glu1211Asp) rs759994870 0.00002
NM_004104.5(FASN):c.3694G>A (p.Val1232Met) rs760065786 0.00002
NM_004104.5(FASN):c.4094C>T (p.Pro1365Leu) rs902738984 0.00002
NM_004104.5(FASN):c.4544G>A (p.Arg1515His) rs1037856079 0.00002
NM_004104.5(FASN):c.4654C>T (p.Arg1552Cys) rs762427627 0.00002
NM_004104.5(FASN):c.466G>A (p.Ala156Thr) rs763417026 0.00002
NM_004104.5(FASN):c.4828G>A (p.Gly1610Ser) rs144828416 0.00002
NM_004104.5(FASN):c.5083G>A (p.Val1695Ile) rs111918281 0.00002
NM_004104.5(FASN):c.5156G>A (p.Ser1719Asn) rs1024972645 0.00002
NM_004104.5(FASN):c.5161G>A (p.Ala1721Thr) rs1185045874 0.00002
NM_004104.5(FASN):c.5352C>G (p.Ile1784Met) rs776458928 0.00002
NM_004104.5(FASN):c.5404G>A (p.Glu1802Lys) rs764921764 0.00002
NM_004104.5(FASN):c.5527A>G (p.Met1843Val) rs925971986 0.00002
NM_004104.5(FASN):c.5617A>G (p.Met1873Val) rs372701906 0.00002
NM_004104.5(FASN):c.5761C>G (p.Arg1921Gly) rs142537824 0.00002
NM_004104.5(FASN):c.6020G>A (p.Arg2007Gln) rs766478964 0.00002
NM_004104.5(FASN):c.625G>A (p.Glu209Lys) rs1231782441 0.00002
NM_004104.5(FASN):c.6303G>C (p.Gln2101His) rs532083673 0.00002
NM_004104.5(FASN):c.6494C>T (p.Thr2165Met) rs745914935 0.00002
NM_004104.5(FASN):c.6553C>T (p.Arg2185Trp) rs372065783 0.00002
NM_004104.5(FASN):c.6748A>G (p.Ile2250Val) rs376275854 0.00002
NM_004104.5(FASN):c.6773A>T (p.His2258Leu) rs373131598 0.00002
NM_004104.5(FASN):c.70G>A (p.Asp24Asn) rs760285361 0.00002
NM_004104.5(FASN):c.7238G>A (p.Arg2413His) rs557050126 0.00002
NM_004104.5(FASN):c.7262G>A (p.Arg2421Gln) rs140139973 0.00002
NM_004104.5(FASN):c.7282C>T (p.Arg2428Cys) rs769391843 0.00002
NM_004104.5(FASN):c.7332G>A (p.Met2444Ile) rs761715517 0.00002
NM_004104.5(FASN):c.7366G>A (p.Glu2456Lys) rs756394843 0.00002
NM_004104.5(FASN):c.7526G>A (p.Arg2509Gln) rs759790350 0.00002
NM_004104.5(FASN):c.824C>T (p.Ser275Leu) rs140748143 0.00002
NM_004104.5(FASN):c.97G>A (p.Val33Ile) rs747282145 0.00002
NM_005458.8(GABBR2):c.1032C>G (p.Asn344Lys) rs746569162 0.00002
NM_005458.8(GABBR2):c.1424G>A (p.Arg475Gln) rs762426467 0.00002
NM_005458.8(GABBR2):c.143G>A (p.Arg48Gln) rs1431110237 0.00002
NM_005458.8(GABBR2):c.2179G>A (p.Val727Ile) rs752489353 0.00002
NM_005458.8(GABBR2):c.2221G>A (p.Val741Met) rs370955037 0.00002
NM_005458.8(GABBR2):c.2468C>T (p.Thr823Ile) rs753265829 0.00002
NM_005458.8(GABBR2):c.856G>A (p.Glu286Lys) rs745672188 0.00002
NM_005458.8(GABBR2):c.911G>A (p.Arg304Gln) rs766347577 0.00002
NM_001036.6(RYR3):c.10019A>G (p.Gln3340Arg) rs376792088 0.00001
NM_001036.6(RYR3):c.1014A>G (p.Ile338Met) rs1340198830 0.00001
NM_001036.6(RYR3):c.10331C>T (p.Pro3444Leu) rs777460190 0.00001
NM_001036.6(RYR3):c.10454G>A (p.Arg3485Gln) rs192619532 0.00001
NM_001036.6(RYR3):c.10529A>G (p.His3510Arg) rs752657728 0.00001
NM_001036.6(RYR3):c.10649C>A (p.Pro3550His) rs760323861 0.00001
NM_001036.6(RYR3):c.1072A>G (p.Ile358Val) rs757011633 0.00001
NM_001036.6(RYR3):c.10759-10T>C rs1214695856 0.00001
NM_001036.6(RYR3):c.10829A>T (p.Glu3610Val) rs1316205507 0.00001
NM_001036.6(RYR3):c.10858C>T (p.Arg3620Trp) rs1477239834 0.00001
NM_001036.6(RYR3):c.10901T>C (p.Ile3634Thr) rs1323235127 0.00001
NM_001036.6(RYR3):c.11060T>C (p.Met3687Thr) rs199931215 0.00001
NM_001036.6(RYR3):c.11146C>T (p.Leu3716Phe) rs776691651 0.00001
NM_001036.6(RYR3):c.11188G>A (p.Glu3730Lys) rs763084437 0.00001
NM_001036.6(RYR3):c.1124G>A (p.Arg375His) rs776257846 0.00001
NM_001036.6(RYR3):c.11264G>A (p.Arg3755Gln) rs767795631 0.00001
NM_001036.6(RYR3):c.11326C>T (p.Arg3776Cys) rs747918264 0.00001
NM_001036.6(RYR3):c.11420C>A (p.Ala3807Glu) rs757214631 0.00001
NM_001036.6(RYR3):c.11832C>A (p.Phe3944Leu) rs2078134953 0.00001
NM_001036.6(RYR3):c.11866C>A (p.Gln3956Lys) rs992599408 0.00001
NM_001036.6(RYR3):c.1186A>G (p.Thr396Ala) rs1567552866 0.00001
NM_001036.6(RYR3):c.11894G>C (p.Cys3965Ser) rs982440028 0.00001
NM_001036.6(RYR3):c.11916C>A (p.Asp3972Glu) rs780704306 0.00001
NM_001036.6(RYR3):c.11917A>G (p.Met3973Val) rs201327770 0.00001
NM_001036.6(RYR3):c.12055G>A (p.Glu4019Lys) rs1322987678 0.00001
NM_001036.6(RYR3):c.12316G>A (p.Asp4106Asn) rs201420241 0.00001
NM_001036.6(RYR3):c.12338A>T (p.Glu4113Val) rs781033822 0.00001
NM_001036.6(RYR3):c.12400G>A (p.Gly4134Arg) rs775664813 0.00001
NM_001036.6(RYR3):c.12457G>A (p.Val4153Ile) rs903865101 0.00001
NM_001036.6(RYR3):c.12482C>A (p.Thr4161Asn) rs772124153 0.00001
NM_001036.6(RYR3):c.12804A>G (p.Ile4268Met) rs753107741 0.00001
NM_001036.6(RYR3):c.12818G>A (p.Gly4273Glu) rs2078190366 0.00001
NM_001036.6(RYR3):c.12873C>G (p.Ser4291Arg) rs770836948 0.00001
NM_001036.6(RYR3):c.13027G>A (p.Glu4343Lys) rs371107228 0.00001
NM_001036.6(RYR3):c.13126C>T (p.Arg4376Trp) rs753219318 0.00001
NM_001036.6(RYR3):c.13258G>A (p.Val4420Ile) rs2078517547 0.00001
NM_001036.6(RYR3):c.13341C>A (p.Asn4447Lys) rs1207059445 0.00001
NM_001036.6(RYR3):c.13393G>A (p.Val4465Ile) rs1327424943 0.00001
NM_001036.6(RYR3):c.13653C>A (p.Asp4551Glu) rs766901337 0.00001
NM_001036.6(RYR3):c.13671+4T>C rs374083464 0.00001
NM_001036.6(RYR3):c.13702G>C (p.Ala4568Pro) rs994746145 0.00001
NM_001036.6(RYR3):c.13760T>C (p.Val4587Ala) rs750177909 0.00001
NM_001036.6(RYR3):c.137G>A (p.Arg46His) rs774050928 0.00001
NM_001036.6(RYR3):c.13816A>G (p.Met4606Val) rs747633069 0.00001
NM_001036.6(RYR3):c.13826A>G (p.His4609Arg) rs1465461269 0.00001
NM_001036.6(RYR3):c.14091C>A (p.Asn4697Lys) rs752422188 0.00001
NM_001036.6(RYR3):c.14142+4A>G rs1235991079 0.00001
NM_001036.6(RYR3):c.14262C>G (p.Phe4754Leu) rs1040889450 0.00001
NM_001036.6(RYR3):c.14353G>C (p.Glu4785Gln) rs747821141 0.00001
NM_001036.6(RYR3):c.14387T>C (p.Ile4796Thr) rs764029640 0.00001
NM_001036.6(RYR3):c.14515C>A (p.Gln4839Lys) rs1225273407 0.00001
NM_001036.6(RYR3):c.14584C>T (p.Arg4862Cys) rs1309538160 0.00001
NM_001036.6(RYR3):c.1463G>T (p.Cys488Phe) rs766106079 0.00001
NM_001036.6(RYR3):c.1487A>G (p.Asn496Ser) rs570514213 0.00001
NM_001036.6(RYR3):c.1492G>A (p.Val498Ile) rs1264434931 0.00001
NM_001036.6(RYR3):c.14G>A (p.Gly5Glu) rs771419772 0.00001
NM_001036.6(RYR3):c.1514C>T (p.Ala505Val) rs764823480 0.00001
NM_001036.6(RYR3):c.160T>G (p.Ser54Ala) rs771903948 0.00001
NM_001036.6(RYR3):c.161C>T (p.Ser54Leu) rs372207437 0.00001
NM_001036.6(RYR3):c.1623C>A (p.Asn541Lys) rs773784804 0.00001
NM_001036.6(RYR3):c.1777C>T (p.Arg593Trp) rs749732234 0.00001
NM_001036.6(RYR3):c.178C>G (p.Pro60Ala) rs1395303451 0.00001
NM_001036.6(RYR3):c.1823A>G (p.Asn608Ser) rs769499365 0.00001
NM_001036.6(RYR3):c.1900C>T (p.Arg634Ter) rs780640652 0.00001
NM_001036.6(RYR3):c.1901G>A (p.Arg634Gln) rs752181610 0.00001
NM_001036.6(RYR3):c.1927C>T (p.Arg643Trp) rs747174943 0.00001
NM_001036.6(RYR3):c.193G>A (p.Val65Ile) rs572913737 0.00001
NM_001036.6(RYR3):c.1994T>C (p.Ile665Thr) rs780056230 0.00001
NM_001036.6(RYR3):c.2165G>C (p.Gly722Ala) rs762645686 0.00001
NM_001036.6(RYR3):c.2221G>A (p.Val741Met) rs747480589 0.00001
NM_001036.6(RYR3):c.2317G>A (p.Gly773Arg) rs745473265 0.00001
NM_001036.6(RYR3):c.2363G>A (p.Arg788His) rs756680726 0.00001
NM_001036.6(RYR3):c.2420C>T (p.Ala807Val) rs964229276 0.00001
NM_001036.6(RYR3):c.2443C>G (p.Pro815Ala) rs771092854 0.00001
NM_001036.6(RYR3):c.2470G>C (p.Val824Leu) rs774736714 0.00001
NM_001036.6(RYR3):c.2574+5G>T rs1566808408 0.00001
NM_001036.6(RYR3):c.2679+3A>G rs774928735 0.00001
NM_001036.6(RYR3):c.2695A>G (p.Lys899Glu) rs200236669 0.00001
NM_001036.6(RYR3):c.2753A>G (p.Tyr918Cys) rs1372256555 0.00001
NM_001036.6(RYR3):c.2785A>G (p.Thr929Ala) rs532872913 0.00001
NM_001036.6(RYR3):c.2801G>A (p.Gly934Glu) rs1464769762 0.00001
NM_001036.6(RYR3):c.2812G>T (p.Ala938Ser) rs1186954298 0.00001
NM_001036.6(RYR3):c.2846A>G (p.Lys949Arg) rs754047679 0.00001
NM_001036.6(RYR3):c.3000A>C (p.Lys1000Asn) rs1254419062 0.00001
NM_001036.6(RYR3):c.30C>A (p.Asp10Glu) rs761390620 0.00001
NM_001036.6(RYR3):c.3100A>G (p.Arg1034Gly) rs376346877 0.00001
NM_001036.6(RYR3):c.3224G>A (p.Arg1075Gln) rs944419972 0.00001
NM_001036.6(RYR3):c.3233G>A (p.Arg1078Gln) rs754630341 0.00001
NM_001036.6(RYR3):c.3475A>G (p.Met1159Val) rs763833348 0.00001
NM_001036.6(RYR3):c.3623G>C (p.Ser1208Thr) rs1181544618 0.00001
NM_001036.6(RYR3):c.3721C>T (p.Leu1241Phe) rs762292478 0.00001
NM_001036.6(RYR3):c.3725C>T (p.Pro1242Leu) rs1274128199 0.00001
NM_001036.6(RYR3):c.3800C>T (p.Pro1267Leu) rs768607761 0.00001
NM_001036.6(RYR3):c.3991G>A (p.Ala1331Thr) rs758679094 0.00001
NM_001036.6(RYR3):c.4017T>G (p.Asp1339Glu) rs781576341 0.00001
NM_001036.6(RYR3):c.4066A>G (p.Ser1356Gly) rs374585350 0.00001
NM_001036.6(RYR3):c.4129C>T (p.Arg1377Trp) rs377266014 0.00001
NM_001036.6(RYR3):c.4402A>G (p.Met1468Val) rs1441433888 0.00001
NM_001036.6(RYR3):c.4492G>A (p.Val1498Met) rs375515948 0.00001
NM_001036.6(RYR3):c.4495C>T (p.Leu1499Phe) rs757410936 0.00001
NM_001036.6(RYR3):c.4533G>C (p.Glu1511Asp) rs772574630 0.00001
NM_001036.6(RYR3):c.454A>G (p.Ile152Val) rs780128168 0.00001
NM_001036.6(RYR3):c.4558G>A (p.Gly1520Ser) rs779051107 0.00001
NM_001036.6(RYR3):c.4562G>C (p.Trp1521Ser) rs1217109352 0.00001
NM_001036.6(RYR3):c.4574G>A (p.Cys1525Tyr) rs750872747 0.00001
NM_001036.6(RYR3):c.4640A>C (p.Glu1547Ala) rs1487780532 0.00001
NM_001036.6(RYR3):c.4678C>T (p.His1560Tyr) rs778637615 0.00001
NM_001036.6(RYR3):c.4702G>A (p.Val1568Met) rs1282040806 0.00001
NM_001036.6(RYR3):c.4772A>G (p.Tyr1591Cys) rs1555397898 0.00001
NM_001036.6(RYR3):c.4901C>T (p.Thr1634Ile) rs760950887 0.00001
NM_001036.6(RYR3):c.511C>T (p.Leu171Phe) rs770203359 0.00001
NM_001036.6(RYR3):c.5132G>A (p.Arg1711Gln) rs1462278259 0.00001
NM_001036.6(RYR3):c.5223T>A (p.Asp1741Glu) rs902077377 0.00001
NM_001036.6(RYR3):c.5248A>C (p.Ile1750Leu) rs759365540 0.00001
NM_001036.6(RYR3):c.5318A>G (p.Gln1773Arg) rs1253604633 0.00001
NM_001036.6(RYR3):c.5401G>A (p.Glu1801Lys) rs777398893 0.00001
NM_001036.6(RYR3):c.5438A>C (p.Tyr1813Ser) rs372615267 0.00001
NM_001036.6(RYR3):c.5591A>G (p.Lys1864Arg) rs774589130 0.00001
NM_001036.6(RYR3):c.5620A>G (p.Ile1874Val) rs568206904 0.00001
NM_001036.6(RYR3):c.565G>A (p.Gly189Ser) rs762795498 0.00001
NM_001036.6(RYR3):c.5721T>C (p.Cys1907=) rs1320750197 0.00001
NM_001036.6(RYR3):c.5723-6T>G rs769076393 0.00001
NM_001036.6(RYR3):c.5827G>A (p.Glu1943Lys) rs752171274 0.00001
NM_001036.6(RYR3):c.5829G>C (p.Glu1943Asp) rs767187763 0.00001
NM_001036.6(RYR3):c.5837C>T (p.Thr1946Met) rs942287498 0.00001
NM_001036.6(RYR3):c.592A>G (p.Met198Val) rs139577597 0.00001
NM_001036.6(RYR3):c.5960G>A (p.Arg1987Gln) rs779248524 0.00001
NM_001036.6(RYR3):c.6002G>A (p.Arg2001Gln) rs375286188 0.00001
NM_001036.6(RYR3):c.6064G>A (p.Gly2022Ser) rs374589971 0.00001
NM_001036.6(RYR3):c.6073C>T (p.Arg2025Cys) rs1281440819 0.00001
NM_001036.6(RYR3):c.6139A>G (p.Ile2047Val) rs368930817 0.00001
NM_001036.6(RYR3):c.6226G>A (p.Val2076Met) rs760123258 0.00001
NM_001036.6(RYR3):c.625T>C (p.Ser209Pro) rs746548925 0.00001
NM_001036.6(RYR3):c.6284G>A (p.Arg2095His) rs1187202458 0.00001
NM_001036.6(RYR3):c.6314G>A (p.Arg2105Gln) rs1412149237 0.00001
NM_001036.6(RYR3):c.6569T>C (p.Ile2190Thr) rs746481657 0.00001
NM_001036.6(RYR3):c.6613G>A (p.Val2205Met) rs1385551494 0.00001
NM_001036.6(RYR3):c.6671G>A (p.Arg2224His) rs776894612 0.00001
NM_001036.6(RYR3):c.6712A>G (p.Asn2238Asp) rs1211168792 0.00001
NM_001036.6(RYR3):c.6769G>A (p.Asp2257Asn) rs750171875 0.00001
NM_001036.6(RYR3):c.6814G>A (p.Asp2272Asn) rs771479235 0.00001
NM_001036.6(RYR3):c.6922A>G (p.Thr2308Ala) rs369168320 0.00001
NM_001036.6(RYR3):c.6942C>G (p.Ile2314Met) rs185038162 0.00001
NM_001036.6(RYR3):c.697T>C (p.Cys233Arg) rs775300751 0.00001
NM_001036.6(RYR3):c.7001G>A (p.Ser2334Asn) rs199928344 0.00001
NM_001036.6(RYR3):c.703A>G (p.Thr235Ala) rs760619857 0.00001
NM_001036.6(RYR3):c.704C>T (p.Thr235Met) rs534756978 0.00001
NM_001036.6(RYR3):c.7220C>A (p.Thr2407Lys) rs1311822738 0.00001
NM_001036.6(RYR3):c.7229C>T (p.Ala2410Val) rs769067753 0.00001
NM_001036.6(RYR3):c.7296T>G (p.Phe2432Leu) rs1555430248 0.00001
NM_001036.6(RYR3):c.7309C>T (p.His2437Tyr) rs1202296934 0.00001
NM_001036.6(RYR3):c.7442T>C (p.Met2481Thr) rs1400678942 0.00001
NM_001036.6(RYR3):c.7443G>A (p.Met2481Ile) rs1596361332 0.00001
NM_001036.6(RYR3):c.7462C>T (p.Arg2488Cys) rs775041835 0.00001
NM_001036.6(RYR3):c.7547A>G (p.Lys2516Arg) rs760887545 0.00001
NM_001036.6(RYR3):c.7670A>C (p.Asp2557Ala) rs766576655 0.00001
NM_001036.6(RYR3):c.7849A>G (p.Ile2617Val) rs757395431 0.00001
NM_001036.6(RYR3):c.7990-3T>C rs527855635 0.00001
NM_001036.6(RYR3):c.79G>A (p.Ala27Thr) rs201612485 0.00001
NM_001036.6(RYR3):c.8058G>A (p.Val2686=) rs905457147 0.00001
NM_001036.6(RYR3):c.8066C>G (p.Thr2689Ser) rs1249446520 0.00001
NM_001036.6(RYR3):c.808C>T (p.Arg270Trp) rs753191794 0.00001
NM_001036.6(RYR3):c.80C>A (p.Ala27Asp) rs374964000 0.00001
NM_001036.6(RYR3):c.8212G>A (p.Val2738Ile) rs1488174946 0.00001
NM_001036.6(RYR3):c.8496A>C (p.Gln2832His) rs1481136779 0.00001
NM_001036.6(RYR3):c.8532T>A (p.Ser2844Arg) rs1052040358 0.00001
NM_001036.6(RYR3):c.859C>T (p.Arg287Trp) rs373319826 0.00001
NM_001036.6(RYR3):c.8611T>C (p.Phe2871Leu) rs551472479 0.00001
NM_001036.6(RYR3):c.8731G>A (p.Val2911Ile) rs1295193017 0.00001
NM_001036.6(RYR3):c.8758A>G (p.Ser2920Gly) rs374086691 0.00001
NM_001036.6(RYR3):c.8816+5G>A rs747112237 0.00001
NM_001036.6(RYR3):c.9020A>T (p.His3007Leu) rs2073620794 0.00001
NM_001036.6(RYR3):c.9196T>A (p.Phe3066Ile) rs776639416 0.00001
NM_001036.6(RYR3):c.922C>T (p.Arg308Trp) rs577554238 0.00001
NM_001036.6(RYR3):c.9442C>T (p.Arg3148Trp) rs1005334198 0.00001
NM_001036.6(RYR3):c.9445G>T (p.Gly3149Cys) rs759037751 0.00001
NM_001036.6(RYR3):c.972+6G>C rs1246698572 0.00001
NM_001036.6(RYR3):c.9795C>G (p.Phe3265Leu) rs762093960 0.00001
NM_001036.6(RYR3):c.9817G>A (p.Val3273Met) rs369695196 0.00001
NM_001036.6(RYR3):c.991G>A (p.Asp331Asn) rs1488578809 0.00001
NM_004104.5(FASN):c.102G>A (p.Thr34=) rs748255121 0.00001
NM_004104.5(FASN):c.1051G>A (p.Gly351Arg) rs775308391 0.00001
NM_004104.5(FASN):c.106G>A (p.Asp36Asn) rs754942049 0.00001
NM_004104.5(FASN):c.1103C>T (p.Ala368Val) rs755581604 0.00001
NM_004104.5(FASN):c.1118G>A (p.Arg373Gln) rs756441396 0.00001
NM_004104.5(FASN):c.113G>A (p.Arg38His) rs1041961408 0.00001
NM_004104.5(FASN):c.1145C>T (p.Pro382Leu) rs935989284 0.00001
NM_004104.5(FASN):c.116G>A (p.Arg39His) rs766137207 0.00001
NM_004104.5(FASN):c.1213A>G (p.Arg405Gly) rs780441119 0.00001
NM_004104.5(FASN):c.1250A>G (p.His417Arg) rs1417800671 0.00001
NM_004104.5(FASN):c.1265G>A (p.Arg422His) rs759242677 0.00001
NM_004104.5(FASN):c.1321G>A (p.Gly441Ser) rs1332913108 0.00001
NM_004104.5(FASN):c.1366G>A (p.Asp456Asn) rs771224276 0.00001
NM_004104.5(FASN):c.1390G>A (p.Ala464Thr) rs755971315 0.00001
NM_004104.5(FASN):c.1402C>T (p.Arg468Cys) rs1033326712 0.00001
NM_004104.5(FASN):c.1544G>A (p.Arg515His) rs775845460 0.00001
NM_004104.5(FASN):c.1604C>T (p.Ser535Leu) rs766416227 0.00001
NM_004104.5(FASN):c.1606C>G (p.Gln536Glu) rs760683901 0.00001
NM_004104.5(FASN):c.1634C>T (p.Thr545Ile) rs769329550 0.00001
NM_004104.5(FASN):c.1663A>G (p.Ser555Gly) rs2034192507 0.00001
NM_004104.5(FASN):c.1732G>A (p.Val578Ile) rs1043846212 0.00001
NM_004104.5(FASN):c.1789G>A (p.Glu597Lys) rs527938822 0.00001
NM_004104.5(FASN):c.1847C>T (p.Pro616Leu) rs903642159 0.00001
NM_004104.5(FASN):c.1897C>T (p.Arg633Cys) rs200141857 0.00001
NM_004104.5(FASN):c.1913T>C (p.Val638Ala) rs1327630113 0.00001
NM_004104.5(FASN):c.1984G>A (p.Val662Met) rs372061454 0.00001
NM_004104.5(FASN):c.2035G>A (p.Gly679Ser) rs747822458 0.00001
NM_004104.5(FASN):c.2078C>T (p.Pro693Leu) rs764572985 0.00001
NM_004104.5(FASN):c.2089G>C (p.Glu697Gln) rs1351017479 0.00001
NM_004104.5(FASN):c.2100+6C>T rs183504426 0.00001
NM_004104.5(FASN):c.2167C>T (p.His723Tyr) rs1453811038 0.00001
NM_004104.5(FASN):c.218A>G (p.His73Arg) rs1370108551 0.00001
NM_004104.5(FASN):c.220A>G (p.Thr74Ala) rs1324267615 0.00001
NM_004104.5(FASN):c.221C>T (p.Thr74Met) rs774371652 0.00001
NM_004104.5(FASN):c.2311C>A (p.Leu771Met) rs202206277 0.00001
NM_004104.5(FASN):c.2410C>T (p.His804Tyr) rs1429609578 0.00001
NM_004104.5(FASN):c.2425G>A (p.Asp809Asn) rs766712508 0.00001
NM_004104.5(FASN):c.2452C>T (p.Pro818Ser) rs762145412 0.00001
NM_004104.5(FASN):c.2453C>T (p.Pro818Leu) rs774528608 0.00001
NM_004104.5(FASN):c.2605G>A (p.Glu869Lys) rs768046397 0.00001
NM_004104.5(FASN):c.2641G>A (p.Asp881Asn) rs1463167897 0.00001
NM_004104.5(FASN):c.2648G>A (p.Arg883His) rs753970857 0.00001
NM_004104.5(FASN):c.2662G>A (p.Ala888Thr) rs763888232 0.00001
NM_004104.5(FASN):c.2701C>T (p.Arg901Cys) rs768819928 0.00001
NM_004104.5(FASN):c.2704G>A (p.Ala902Thr) rs376556250 0.00001
NM_004104.5(FASN):c.271G>A (p.Val91Met) rs777280947 0.00001
NM_004104.5(FASN):c.2722G>A (p.Glu908Lys) rs764010871 0.00001
NM_004104.5(FASN):c.2770A>G (p.Ile924Val) rs762251297 0.00001
NM_004104.5(FASN):c.2795C>T (p.Ser932Phe) rs146356200 0.00001
NM_004104.5(FASN):c.2806C>T (p.Arg936Trp) rs770930583 0.00001
NM_004104.5(FASN):c.2824C>T (p.Arg942Cys) rs754621431 0.00001
NM_004104.5(FASN):c.2848G>A (p.Gly950Ser) rs200812330 0.00001
NM_004104.5(FASN):c.2872G>T (p.Val958Leu) rs1458563249 0.00001
NM_004104.5(FASN):c.2915C>T (p.Pro972Leu) rs202024339 0.00001
NM_004104.5(FASN):c.2920A>G (p.Ser974Gly) rs147846950 0.00001
NM_004104.5(FASN):c.2957C>T (p.Ala986Val) rs750638732 0.00001
NM_004104.5(FASN):c.2990G>A (p.Arg997His) rs765011040 0.00001
NM_004104.5(FASN):c.3031G>A (p.Ala1011Thr) rs781711707 0.00001
NM_004104.5(FASN):c.3099G>A (p.Met1033Ile) rs747044105 0.00001
NM_004104.5(FASN):c.3167A>G (p.His1056Arg) rs1251431363 0.00001
NM_004104.5(FASN):c.3174C>G (p.Asp1058Glu) rs780024238 0.00001
NM_004104.5(FASN):c.3227C>T (p.Ala1076Val) rs754514615 0.00001
NM_004104.5(FASN):c.3259A>G (p.Thr1087Ala) rs1348309695 0.00001
NM_004104.5(FASN):c.3297T>A (p.Thr1099=) rs752939866 0.00001
NM_004104.5(FASN):c.330C>T (p.Gly110=) rs761689386 0.00001
NM_004104.5(FASN):c.3311G>A (p.Arg1104Gln) rs773351273 0.00001
NM_004104.5(FASN):c.331G>A (p.Val111Met) rs145409565 0.00001
NM_004104.5(FASN):c.3359C>T (p.Thr1120Ile) rs982432310 0.00001
NM_004104.5(FASN):c.3426G>A (p.Lys1142=) rs761637918 0.00001
NM_004104.5(FASN):c.3508C>T (p.Pro1170Ser) rs931801543 0.00001
NM_004104.5(FASN):c.3538C>T (p.Arg1180Trp) rs772735121 0.00001
NM_004104.5(FASN):c.3546G>C (p.Leu1182Phe) rs1041147096 0.00001
NM_004104.5(FASN):c.3548C>T (p.Ser1183Leu) rs776209432 0.00001
NM_004104.5(FASN):c.3710G>A (p.Ser1237Asn) rs548731852 0.00001
NM_004104.5(FASN):c.3763C>T (p.Arg1255Cys) rs1470616365 0.00001
NM_004104.5(FASN):c.3794T>G (p.Leu1265Arg) rs1568110115 0.00001
NM_004104.5(FASN):c.3847G>T (p.Ala1283Ser) rs924118086 0.00001
NM_004104.5(FASN):c.3916G>A (p.Ala1306Thr) rs751832838 0.00001
NM_004104.5(FASN):c.3928G>A (p.Ala1310Thr) rs764544865 0.00001
NM_004104.5(FASN):c.3988A>T (p.Ser1330Cys) rs1298794499 0.00001
NM_004104.5(FASN):c.4122+4C>T rs374704748 0.00001
NM_004104.5(FASN):c.4122+5G>A rs750312479 0.00001
NM_004104.5(FASN):c.4195A>G (p.Thr1399Ala) rs764626319 0.00001
NM_004104.5(FASN):c.4196C>T (p.Thr1399Met) rs1382206898 0.00001
NM_004104.5(FASN):c.4214G>A (p.Arg1405Gln) rs777862786 0.00001
NM_004104.5(FASN):c.4233C>G (p.Ser1411Arg) rs947020826 0.00001
NM_004104.5(FASN):c.4279T>C (p.Ser1427Pro) rs748965996 0.00001
NM_004104.5(FASN):c.4289G>A (p.Gly1430Asp) rs562361621 0.00001
NM_004104.5(FASN):c.4303G>A (p.Glu1435Lys) rs756527893 0.00001
NM_004104.5(FASN):c.4315C>T (p.Arg1439Trp) rs369734537 0.00001
NM_004104.5(FASN):c.4340A>C (p.Asn1447Thr) rs1392416942 0.00001
NM_004104.5(FASN):c.4369G>A (p.Val1457Met) rs200775885 0.00001
NM_004104.5(FASN):c.4370T>C (p.Val1457Ala) rs1022318126 0.00001
NM_004104.5(FASN):c.4382G>A (p.Arg1461His) rs781635109 0.00001
NM_004104.5(FASN):c.4402C>T (p.Arg1468Cys) rs575986448 0.00001
NM_004104.5(FASN):c.4414G>A (p.Val1472Met) rs1318973626 0.00001
NM_004104.5(FASN):c.4463C>T (p.Pro1488Leu) rs771349634 0.00001
NM_004104.5(FASN):c.4477C>G (p.Leu1493Val) rs1451796502 0.00001
NM_004104.5(FASN):c.4487T>C (p.Val1496Ala) rs779132856 0.00001
NM_004104.5(FASN):c.4496G>A (p.Gly1499Glu) rs1407933279 0.00001
NM_004104.5(FASN):c.4513G>A (p.Val1505Ile) rs954842120 0.00001
NM_004104.5(FASN):c.4525G>A (p.Gly1509Arg) rs1240492154 0.00001
NM_004104.5(FASN):c.4563G>A (p.Glu1521=) rs2034059758 0.00001
NM_004104.5(FASN):c.4612C>T (p.Arg1538Trp) rs1030974325 0.00001
NM_004104.5(FASN):c.4613G>A (p.Arg1538Gln) rs749521173 0.00001
NM_004104.5(FASN):c.4618G>A (p.Asp1540Asn) rs754488328 0.00001
NM_004104.5(FASN):c.4676C>T (p.Pro1559Leu) rs746992694 0.00001
NM_004104.5(FASN):c.4694C>T (p.Thr1565Met) rs1294023345 0.00001
NM_004104.5(FASN):c.4695G>A (p.Thr1565=) rs778360804 0.00001
NM_004104.5(FASN):c.4889C>T (p.Pro1630Leu) rs779327861 0.00001
NM_004104.5(FASN):c.4890G>A (p.Pro1630=) rs755513455 0.00001
NM_004104.5(FASN):c.4903G>A (p.Asp1635Asn) rs780442372 0.00001
NM_004104.5(FASN):c.4919+4A>C rs563235937 0.00001
NM_004104.5(FASN):c.4993G>T (p.Val1665Leu) rs1270962378 0.00001
NM_004104.5(FASN):c.4996C>T (p.Arg1666Cys) rs377037839 0.00001
NM_004104.5(FASN):c.4997G>A (p.Arg1666His) rs571435935 0.00001
NM_004104.5(FASN):c.5009C>T (p.Thr1670Met) rs753648795 0.00001
NM_004104.5(FASN):c.5041G>A (p.Gly1681Ser) rs771483135 0.00001
NM_004104.5(FASN):c.5113C>T (p.Arg1705Trp) rs766947051 0.00001
NM_004104.5(FASN):c.5127G>T (p.Gln1709His) rs1453149356 0.00001
NM_004104.5(FASN):c.5146G>A (p.Asp1716Asn) rs181589044 0.00001
NM_004104.5(FASN):c.5221G>A (p.Val1741Ile) rs200109185 0.00001
NM_004104.5(FASN):c.5246C>T (p.Ala1749Val) rs1249748778 0.00001
NM_004104.5(FASN):c.5324C>A (p.Ser1775Tyr) rs1273164437 0.00001
NM_004104.5(FASN):c.532G>A (p.Gly178Arg) rs1341987400 0.00001
NM_004104.5(FASN):c.5335C>G (p.Pro1779Ala) rs753834341 0.00001
NM_004104.5(FASN):c.5341G>A (p.Gly1781Ser) rs373722639 0.00001
NM_004104.5(FASN):c.5422C>T (p.Arg1808Trp) rs942504929 0.00001
NM_004104.5(FASN):c.5462G>A (p.Gly1821Glu) rs1046192365 0.00001
NM_004104.5(FASN):c.5476C>G (p.Leu1826Val) rs775917581 0.00001
NM_004104.5(FASN):c.5541G>T (p.Lys1847Asn) rs1407246110 0.00001
NM_004104.5(FASN):c.5576A>G (p.Glu1859Gly) rs1598574613 0.00001
NM_004104.5(FASN):c.5603C>T (p.Ala1868Val) rs1473167770 0.00001
NM_004104.5(FASN):c.5612A>G (p.Lys1871Arg) rs761078198 0.00001
NM_004104.5(FASN):c.5618T>C (p.Met1873Thr) rs1019605122 0.00001
NM_004104.5(FASN):c.5645C>T (p.Pro1882Leu) rs781081288 0.00001
NM_004104.5(FASN):c.5648C>T (p.Ala1883Val) rs746732861 0.00001
NM_004104.5(FASN):c.5650C>T (p.His1884Tyr) rs553520996 0.00001
NM_004104.5(FASN):c.5694G>A (p.Leu1898=) rs1013944895 0.00001
NM_004104.5(FASN):c.5719C>T (p.Arg1907Cys) rs868672061 0.00001
NM_004104.5(FASN):c.5837T>G (p.Ile1946Ser) rs1239709652 0.00001
NM_004104.5(FASN):c.5846T>C (p.Leu1949Pro) rs767568778 0.00001
NM_004104.5(FASN):c.5857C>T (p.Arg1953Trp) rs774038785 0.00001
NM_004104.5(FASN):c.5934C>T (p.Gly1978=) rs569358878 0.00001
NM_004104.5(FASN):c.6218T>C (p.Met2073Thr) rs548026005 0.00001
NM_004104.5(FASN):c.6233C>T (p.Thr2078Met) rs765291298 0.00001
NM_004104.5(FASN):c.6238G>A (p.Val2080Ile) rs766446511 0.00001
NM_004104.5(FASN):c.6262A>G (p.Met2088Val) rs767993316 0.00001
NM_004104.5(FASN):c.6310A>G (p.Met2104Val) rs1356589443 0.00001
NM_004104.5(FASN):c.6376G>A (p.Asp2126Asn) rs773781442 0.00001
NM_004104.5(FASN):c.646G>A (p.Asp216Asn) rs144193556 0.00001
NM_004104.5(FASN):c.6478G>A (p.Val2160Met) rs2033982566 0.00001
NM_004104.5(FASN):c.6531C>T (p.Arg2177=) rs1160132362 0.00001
NM_004104.5(FASN):c.6534G>A (p.Glu2178=) rs1030380295 0.00001
NM_004104.5(FASN):c.659A>G (p.Asn220Ser) rs1011886751 0.00001
NM_004104.5(FASN):c.6611C>T (p.Thr2204Met) rs146291121 0.00001
NM_004104.5(FASN):c.6658C>T (p.Arg2220Cys) rs767525247 0.00001
NM_004104.5(FASN):c.6659G>A (p.Arg2220His) rs761888209 0.00001
NM_004104.5(FASN):c.6736C>A (p.Leu2246Met) rs1434371690 0.00001
NM_004104.5(FASN):c.6871G>A (p.Asp2291Asn) rs1180994609 0.00001
NM_004104.5(FASN):c.6907C>T (p.Arg2303Cys) rs538886615 0.00001
NM_004104.5(FASN):c.6910G>A (p.Val2304Met) rs1007673690 0.00001
NM_004104.5(FASN):c.6916G>A (p.Gly2306Ser) rs1240723721 0.00001
NM_004104.5(FASN):c.7127C>T (p.Thr2376Met) rs777370582 0.00001
NM_004104.5(FASN):c.7261C>T (p.Arg2421Trp) rs767492248 0.00001
NM_004104.5(FASN):c.7323C>T (p.Gly2441=) rs1417348962 0.00001
NM_004104.5(FASN):c.7325A>G (p.Asn2442Ser) rs1249932478 0.00001
NM_004104.5(FASN):c.7399G>A (p.Val2467Ile) rs760070841 0.00001
NM_004104.5(FASN):c.7426G>A (p.Val2476Ile) rs1140623 0.00001
NM_004104.5(FASN):c.7445G>A (p.Arg2482His) rs758552144 0.00001
NM_004104.5(FASN):c.778+6C>T rs747631706 0.00001
NM_004104.5(FASN):c.856T>A (p.Ser286Thr) rs749367001 0.00001
NM_004104.5(FASN):c.880G>A (p.Gly294Ser) rs1436017797 0.00001
NM_004104.5(FASN):c.90G>A (p.Val30=) rs1371455158 0.00001
NM_004104.5(FASN):c.931G>A (p.Ala311Thr) rs773009544 0.00001
NM_004104.5(FASN):c.946C>T (p.Arg316Cys) rs754799750 0.00001
NM_004104.5(FASN):c.94A>G (p.Met32Val) rs771149670 0.00001
NM_004104.5(FASN):c.985A>G (p.Met329Val) rs758988474 0.00001
NM_005458.8(GABBR2):c.1021G>C (p.Glu341Gln) rs370102532 0.00001
NM_005458.8(GABBR2):c.1045G>A (p.Val349Met) rs759044661 0.00001
NM_005458.8(GABBR2):c.1072G>A (p.Ala358Thr) rs753968000 0.00001
NM_005458.8(GABBR2):c.1142G>A (p.Arg381Gln) rs1008758499 0.00001
NM_005458.8(GABBR2):c.1145A>G (p.His382Arg) rs1826282067 0.00001
NM_005458.8(GABBR2):c.1252C>T (p.Arg418Trp) rs779267117 0.00001
NM_005458.8(GABBR2):c.137C>T (p.Ala46Val) rs753441454 0.00001
NM_005458.8(GABBR2):c.146C>T (p.Pro49Leu) rs760146944 0.00001
NM_005458.8(GABBR2):c.1476G>T (p.Gly492=) rs144387402 0.00001
NM_005458.8(GABBR2):c.158G>A (p.Ser53Asn) rs1830933565 0.00001
NM_005458.8(GABBR2):c.161C>T (p.Pro54Leu) rs1255805463 0.00001
NM_005458.8(GABBR2):c.1801G>A (p.Val601Met) rs758668397 0.00001
NM_005458.8(GABBR2):c.2137A>G (p.Thr713Ala) rs1433245976 0.00001
NM_005458.8(GABBR2):c.2390G>A (p.Arg797His) rs80137447 0.00001
NM_005458.8(GABBR2):c.2669G>A (p.Arg890His) rs1430192079 0.00001
NM_005458.8(GABBR2):c.269A>G (p.Asn90Ser) rs370768849 0.00001
NM_005458.8(GABBR2):c.35C>T (p.Pro12Leu) rs1830937754 0.00001
NM_005458.8(GABBR2):c.630+6C>T rs1166001117 0.00001
NM_005458.8(GABBR2):c.732+5G>T rs1178244073 0.00001
NM_005458.8(GABBR2):c.902G>A (p.Arg301His) rs760023782 0.00001
NM_005458.8(GABBR2):c.979A>T (p.Ile327Phe) rs542987260 0.00001
NC_000009.11:g.(?_101052866)_(101073507_?)dup
NC_000009.12:g.(?_97428446)_(98796511_?)dup
NC_000015.10:g.(?_33742346)_(33866065_?)del
NC_000015.9:g.(?_33603247)_(33765759_?)dup
NC_000015.9:g.(?_34117794)_(34158266_?)del
NC_000015.9:g.(?_34156329)_(34156400_?)dup
NC_000017.11:g.(?_82079123)_(82083659_?)dup
NC_000017.11:g.82083892del
NM_001036.4(RYR3):c.5418+13_5418+14insAAGCTGCAGGT
NM_001036.6(RYR3):c.10018C>A (p.Gln3340Lys) rs1333654801
NM_001036.6(RYR3):c.10043A>G (p.Gln3348Arg) rs2076465059
NM_001036.6(RYR3):c.10045G>A (p.Glu3349Lys) rs1278560286
NM_001036.6(RYR3):c.10067G>T (p.Arg3356Leu) rs781646279
NM_001036.6(RYR3):c.10069G>A (p.Gly3357Arg) rs1441405400
NM_001036.6(RYR3):c.10138A>C (p.Asn3380His) rs2076471810
NM_001036.6(RYR3):c.10327A>C (p.Asn3443His) rs373622365
NM_001036.6(RYR3):c.10327A>G (p.Asn3443Asp) rs373622365
NM_001036.6(RYR3):c.10406G>A (p.Arg3469Lys) rs2076654085
NM_001036.6(RYR3):c.10415A>C (p.Lys3472Thr) rs2076654425
NM_001036.6(RYR3):c.10544_10547delinsA (p.Phe3515_Trp3516delinsTer) rs1567232258
NM_001036.6(RYR3):c.10620GGA[3] (p.Glu3545del) rs761472822
NM_001036.6(RYR3):c.10624G>A (p.Glu3542Lys) rs1195837601
NM_001036.6(RYR3):c.10666A>G (p.Ile3556Val) rs2076946853
NM_001036.6(RYR3):c.10672C>G (p.Leu3558Val) rs1567235731
NM_001036.6(RYR3):c.10685G>T (p.Arg3562Leu) rs780080294
NM_001036.6(RYR3):c.10760G>A (p.Ser3587Asn) rs1423109122
NM_001036.6(RYR3):c.10760G>C (p.Ser3587Thr) rs1423109122
NM_001036.6(RYR3):c.10772G>A (p.Gly3591Asp) rs1567240933
NM_001036.6(RYR3):c.10782AGA[2] (p.Glu3596del) rs772825862
NM_001036.6(RYR3):c.10785_10796del (p.Glu3595_Glu3598del) rs1415731316
NM_001036.6(RYR3):c.10792G>A (p.Glu3598Lys) rs1314124125
NM_001036.6(RYR3):c.1079G>A (p.Ser360Asn) rs868124984
NM_001036.6(RYR3):c.10816-3del rs753142811
NM_001036.6(RYR3):c.10858C>G (p.Arg3620Gly) rs1477239834
NM_001036.6(RYR3):c.10880_10881inv (p.Ala3627Val)
NM_001036.6(RYR3):c.10930A>G (p.Met3644Val) rs1188536603
NM_001036.6(RYR3):c.1096T>A (p.Tyr366Asn) rs2057491445
NM_001036.6(RYR3):c.11038T>C (p.Phe3680Leu) rs2077191516
NM_001036.6(RYR3):c.11040T>G (p.Phe3680Leu) rs779268463
NM_001036.6(RYR3):c.11124G>T (p.Gly3708=) rs1567253059
NM_001036.6(RYR3):c.11164+1G>A rs549279246
NM_001036.6(RYR3):c.11165-1G>A rs2077393995
NM_001036.6(RYR3):c.11247C>G (p.Asp3749Glu) rs1596844876
NM_001036.6(RYR3):c.11263C>T (p.Arg3755Trp)
NM_001036.6(RYR3):c.11407T>C (p.Ser3803Pro) rs2152971018
NM_001036.6(RYR3):c.1146+3G>A rs192358229
NM_001036.6(RYR3):c.11568+5T>C rs751533922
NM_001036.6(RYR3):c.11626G>C (p.Val3876Leu) rs1186228421
NM_001036.6(RYR3):c.11711C>G (p.Thr3904Ser) rs1596924208
NM_001036.6(RYR3):c.11902G>A (p.Ala3968Thr) rs577747200
NM_001036.6(RYR3):c.11944C>T (p.Arg3982Trp) rs557120958
NM_001036.6(RYR3):c.12049C>T (p.Pro4017Ser) rs2078146981
NM_001036.6(RYR3):c.12094A>G (p.Ile4032Val) rs1555485015
NM_001036.6(RYR3):c.12124G>C (p.Glu4042Gln) rs2078151869
NM_001036.6(RYR3):c.12262T>C (p.Phe4088Leu) rs2078157787
NM_001036.6(RYR3):c.12286A>T (p.Met4096Leu) rs2078159290
NM_001036.6(RYR3):c.12362C>G (p.Ser4121Cys) rs2078163216
NM_001036.6(RYR3):c.1247C>T (p.Ala416Val) rs747346417
NM_001036.6(RYR3):c.12550C>T (p.Leu4184Phe) rs1414118993
NM_001036.6(RYR3):c.1263T>G (p.Phe421Leu) rs2152491034
NM_001036.6(RYR3):c.12647G>A (p.Gly4216Glu) rs2078179226
NM_001036.6(RYR3):c.12686C>T (p.Thr4229Ile) rs751763127
NM_001036.6(RYR3):c.12785C>G (p.Thr4262Ser) rs765319074
NM_001036.6(RYR3):c.12794T>C (p.Val4265Ala) rs750160431
NM_001036.6(RYR3):c.12808G>T (p.Gly4270Trp) rs1313607569
NM_001036.6(RYR3):c.12826G>A (p.Asp4276Asn) rs2078190891
NM_001036.6(RYR3):c.12891A>T (p.Glu4297Asp) rs760837521
NM_001036.6(RYR3):c.12896G>A (p.Gly4299Asp) rs1464762533
NM_001036.6(RYR3):c.12972A>T (p.Lys4324Asn) rs2078205814
NM_001036.6(RYR3):c.1303C>T (p.Pro435Ser) rs1567585393
NM_001036.6(RYR3):c.13067A>T (p.Asp4356Val) rs2078391818
NM_001036.6(RYR3):c.13114AAG[2] (p.Lys4374del) rs1337858544
NM_001036.6(RYR3):c.13127G>C (p.Arg4376Pro) rs201791791
NM_001036.6(RYR3):c.1312G>A (p.Glu438Lys) rs932569732
NM_001036.6(RYR3):c.1321C>A (p.Gln441Lys) rs1353196691
NM_001036.6(RYR3):c.13256_13259del (p.Leu4418_Phe4419insTer) rs775076044
NM_001036.6(RYR3):c.13264T>G (p.Phe4422Val) rs986253821
NM_001036.6(RYR3):c.13369G>A (p.Glu4457Lys) rs2078620314
NM_001036.6(RYR3):c.1341C>G (p.Ile447Met) rs370829333
NM_001036.6(RYR3):c.13489T>C (p.Cys4497Arg) rs1596979504
NM_001036.6(RYR3):c.13628+3G>A rs1597000124
NM_001036.6(RYR3):c.13629A>G (p.Pro4543=) rs762478512
NM_001036.6(RYR3):c.13670_13671+3dup rs780109992
NM_001036.6(RYR3):c.13732G>A (p.Asp4578Asn) rs2152999058
NM_001036.6(RYR3):c.13744C>G (p.Leu4582Val) rs559236938
NM_001036.6(RYR3):c.13769C>G (p.Thr4590Ser) rs371603240
NM_001036.6(RYR3):c.13780G>A (p.Ala4594Thr) rs2079338485
NM_001036.6(RYR3):c.13860+1G>A rs1268379736
NM_001036.6(RYR3):c.13889C>G (p.Thr4630Ser) rs1307962205
NM_001036.6(RYR3):c.13910A>G (p.Tyr4637Cys) rs1555493768
NM_001036.6(RYR3):c.1392C>G (p.Asn464Lys) rs1324382972
NM_001036.6(RYR3):c.13G>A (p.Gly5Arg) rs763416818
NM_001036.6(RYR3):c.1400G>A (p.Arg467His) rs1252434951
NM_001036.6(RYR3):c.14031G>A (p.Leu4677=) rs1597079990
NM_001036.6(RYR3):c.14058G>A (p.Val4686=) rs377333580
NM_001036.6(RYR3):c.14149C>G (p.Leu4717Val) rs972426377
NM_001036.6(RYR3):c.14177C>T (p.Ala4726Val) rs1162778289
NM_001036.6(RYR3):c.14209C>G (p.Pro4737Ala) rs760373919
NM_001036.6(RYR3):c.14291T>G (p.Ile4764Ser) rs2080127373
NM_001036.6(RYR3):c.14299+4T>C rs747788382
NM_001036.6(RYR3):c.14356G>A (p.Asp4786Asn) rs1567354675
NM_001036.6(RYR3):c.1438-3C>T rs2058591816
NM_001036.6(RYR3):c.14397C>G (p.Asp4799Glu) rs541643213
NM_001036.6(RYR3):c.14443G>C (p.Glu4815Gln) rs1459857507
NM_001036.6(RYR3):c.14595_*9dup (p.Tyr4865_Ter4871=) rs1890080876
NM_001036.6(RYR3):c.1606G>T (p.Ala536Ser) rs868245910
NM_001036.6(RYR3):c.1650C>G (p.Asp550Glu) rs2058743774
NM_001036.6(RYR3):c.1688A>C (p.His563Pro) rs771548354
NM_001036.6(RYR3):c.1795_1814del (p.Asp599fs) rs2152551537
NM_001036.6(RYR3):c.1805G>A (p.Cys602Tyr) rs754472286
NM_001036.6(RYR3):c.1877G>A (p.Arg626Gln) rs777760026
NM_001036.6(RYR3):c.1884C>A (p.Asn628Lys) rs534066569
NM_001036.6(RYR3):c.1912G>C (p.Asp638His) rs781281296
NM_001036.6(RYR3):c.2028G>T (p.Glu676Asp) rs2059758473
NM_001036.6(RYR3):c.2074C>T (p.Pro692Ser) rs768041967
NM_001036.6(RYR3):c.2168G>A (p.Arg723Gln) rs267604157
NM_001036.6(RYR3):c.2235C>A (p.Cys745Ter) rs769453242
NM_001036.6(RYR3):c.2255G>A (p.Ser752Asn) rs2060285743
NM_001036.6(RYR3):c.2457G>T (p.Met819Ile) rs1003058342
NM_001036.6(RYR3):c.2500A>C (p.Ile834Leu) rs748947513
NM_001036.6(RYR3):c.251C>T (p.Ala84Val) rs2052208538
NM_001036.6(RYR3):c.2593C>G (p.Leu865Val) rs374984544
NM_001036.6(RYR3):c.2621A>T (p.Glu874Val) rs372568152
NM_001036.6(RYR3):c.2646G>T (p.Met882Ile) rs1465936417
NM_001036.6(RYR3):c.264A>C (p.Glu88Asp) rs756571013
NM_001036.6(RYR3):c.2654T>C (p.Ile885Thr) rs2061111187
NM_001036.6(RYR3):c.2675G>A (p.Gly892Asp) rs1265752109
NM_001036.6(RYR3):c.2679+1G>T rs2061113768
NM_001036.6(RYR3):c.269GCG[1] (p.Gly91del) rs752717428
NM_001036.6(RYR3):c.2705A>G (p.His902Arg) rs2061185962
NM_001036.6(RYR3):c.2756A>T (p.Asn919Ile) rs2061188561
NM_001036.6(RYR3):c.2860C>T (p.Pro954Ser) rs746207106
NM_001036.6(RYR3):c.2864A>G (p.Lys955Arg) rs2061252879
NM_001036.6(RYR3):c.2867+3A>T rs561947889
NM_001036.6(RYR3):c.3030T>G (p.Asp1010Glu) rs1566832410
NM_001036.6(RYR3):c.3108C>G (p.Ser1036Arg) rs1555384709
NM_001036.6(RYR3):c.3125G>A (p.Arg1042His) rs781225171
NM_001036.6(RYR3):c.3127A>C (p.Thr1043Pro) rs747990987
NM_001036.6(RYR3):c.3206A>C (p.Asp1069Ala) rs1272965489
NM_001036.6(RYR3):c.3280G>A (p.Val1094Met)
NM_001036.6(RYR3):c.3299G>A (p.Arg1100Gln) rs1566835895
NM_001036.6(RYR3):c.3403A>G (p.Ser1135Gly) rs2061501870
NM_001036.6(RYR3):c.3477G>A (p.Met1159Ile) rs1373277946
NM_001036.6(RYR3):c.3521C>T (p.Ser1174Phe) rs2061506739
NM_001036.6(RYR3):c.354+4A>G rs2141046682
NM_001036.6(RYR3):c.354+5G>A rs1485242342
NM_001036.6(RYR3):c.3547A>G (p.Ile1183Val) rs2061507973
NM_001036.6(RYR3):c.3556+5A>C rs775206941
NM_001036.6(RYR3):c.3635T>G (p.Phe1212Cys) rs1566857785
NM_001036.6(RYR3):c.3645G>C (p.Met1215Ile) rs908431118
NM_001036.6(RYR3):c.3719G>A (p.Arg1240His) rs377529797
NM_001036.6(RYR3):c.3755C>T (p.Pro1252Leu) rs2061991996
NM_001036.6(RYR3):c.3880G>C (p.Val1294Leu) rs2062109034
NM_001036.6(RYR3):c.3898T>C (p.Phe1300Leu) rs1595957329
NM_001036.6(RYR3):c.3923G>A (p.Ser1308Asn) rs2062111629
NM_001036.6(RYR3):c.3952C>G (p.Gln1318Glu) rs370044621
NM_001036.6(RYR3):c.3970ACA[2] (p.Thr1326del) rs763363972
NM_001036.6(RYR3):c.4125A>C (p.Arg1375Ser) rs2062301446
NM_001036.6(RYR3):c.4128C>T (p.Gly1376=) rs2062301610
NM_001036.6(RYR3):c.4172G>T (p.Trp1391Leu) rs2062560335
NM_001036.6(RYR3):c.4219G>C (p.Val1407Leu) rs1430659504
NM_001036.6(RYR3):c.4219G>T (p.Val1407Leu) rs1430659504
NM_001036.6(RYR3):c.4309-3C>G rs1417754004
NM_001036.6(RYR3):c.4385G>A (p.Gly1462Glu) rs1235900492
NM_001036.6(RYR3):c.4393A>C (p.Lys1465Gln) rs1596018951
NM_001036.6(RYR3):c.4399G>A (p.Ala1467Thr) rs748230905
NM_001036.6(RYR3):c.4483A>T (p.Ile1495Phe) rs553354987
NM_001036.6(RYR3):c.4507A>G (p.Met1503Val) rs368769268
NM_001036.6(RYR3):c.454A>T (p.Ile152Leu) rs780128168
NM_001036.6(RYR3):c.4582C>A (p.Pro1528Thr) rs2063089220
NM_001036.6(RYR3):c.4598C>T (p.Ala1533Val) rs368925275
NM_001036.6(RYR3):c.4641G>T (p.Glu1547Asp) rs2152705984
NM_001036.6(RYR3):c.4652A>G (p.Gln1551Arg) rs2063205205
NM_001036.6(RYR3):c.4698C>A (p.Ser1566Arg) rs563422149
NM_001036.6(RYR3):c.4735G>A (p.Ala1579Thr) rs202160360
NM_001036.6(RYR3):c.4735G>C (p.Ala1579Pro) rs202160360
NM_001036.6(RYR3):c.4766del (p.Leu1589fs) rs2152706232
NM_001036.6(RYR3):c.4811C>T (p.Ser1604Phe) rs764730525
NM_001036.6(RYR3):c.4818C>A (p.Phe1606Leu) rs754438842
NM_001036.6(RYR3):c.4853C>G (p.Ala1618Gly) rs2152706401
NM_001036.6(RYR3):c.4858G>A (p.Glu1620Lys) rs1596032965
NM_001036.6(RYR3):c.4935C>A (p.Asp1645Glu) rs755738535
NM_001036.6(RYR3):c.5035C>T (p.His1679Tyr) rs750424423
NM_001036.6(RYR3):c.5119G>A (p.Gly1707Arg) rs1373558975
NM_001036.6(RYR3):c.5144G>C (p.Gly1715Ala) rs756272113
NM_001036.6(RYR3):c.5144G>T (p.Gly1715Val) rs756272113
NM_001036.6(RYR3):c.5219A>G (p.Asp1740Gly) rs1596035220
NM_001036.6(RYR3):c.5242C>T (p.Leu1748Phe) rs1009308978
NM_001036.6(RYR3):c.5335_5358dup (p.Val1779_Gly1786dup) rs1596036055
NM_001036.6(RYR3):c.5358C>T (p.Gly1786=) rs1423994631
NM_001036.6(RYR3):c.5407G>A (p.Val1803Ile) rs377018905
NM_001036.6(RYR3):c.5407G>C (p.Val1803Leu) rs377018905
NM_001036.6(RYR3):c.5417_5418delinsCA (p.Gln1806Pro) rs1596036635
NM_001036.6(RYR3):c.5609C>A (p.Pro1870Gln) rs753308511
NM_001036.6(RYR3):c.5609C>T (p.Pro1870Leu) rs753308511
NM_001036.6(RYR3):c.5677C>G (p.Arg1893Gly) rs1449406965
NM_001036.6(RYR3):c.571A>G (p.Ile191Val) rs2141149139
NM_001036.6(RYR3):c.5726T>C (p.Val1909Ala) rs759190039
NM_001036.6(RYR3):c.5760C>A (p.Asp1920Glu) rs1372401398
NM_001036.6(RYR3):c.578T>G (p.Val193Gly) rs1296124289
NM_001036.6(RYR3):c.5861C>T (p.Thr1954Ile) rs370732432
NM_001036.6(RYR3):c.5875C>G (p.Leu1959Val) rs776190758
NM_001036.6(RYR3):c.5947T>G (p.Phe1983Val) rs2065862490
NM_001036.6(RYR3):c.6093G>C (p.Arg2031Ser) rs1596205665
NM_001036.6(RYR3):c.6125A>T (p.Asn2042Ile) rs116926961
NM_001036.6(RYR3):c.6265A>G (p.Met2089Val) rs2066160816
NM_001036.6(RYR3):c.6398_6419dup (p.Ala2141fs) rs2066262816
NM_001036.6(RYR3):c.639C>G (p.Ile213Met) rs1467070057
NM_001036.6(RYR3):c.6568A>G (p.Ile2190Val) rs1566992285
NM_001036.6(RYR3):c.6601T>C (p.Phe2201Leu) rs1462237800
NM_001036.6(RYR3):c.6699G>A (p.Arg2233=) rs1306167957
NM_001036.6(RYR3):c.6756G>C (p.Glu2252Asp) rs760270042
NM_001036.6(RYR3):c.6787T>C (p.Tyr2263His) rs2068052281
NM_001036.6(RYR3):c.6799G>A (p.Val2267Ile) rs2068053416
NM_001036.6(RYR3):c.6826G>A (p.Glu2276Lys) rs2068161998
NM_001036.6(RYR3):c.683A>G (p.His228Arg) rs982194939
NM_001036.6(RYR3):c.688C>G (p.His230Asp) rs1353581080
NM_001036.6(RYR3):c.7007C>G (p.Pro2336Arg) rs1434123396
NM_001036.6(RYR3):c.7111C>T (p.Arg2371Cys) rs779706127
NM_001036.6(RYR3):c.7152G>C (p.Leu2384Phe) rs1427581990
NM_001036.6(RYR3):c.7204G>A (p.Val2402Ile) rs1473088041
NM_001036.6(RYR3):c.7208C>A (p.Ser2403Tyr) rs745908297
NM_001036.6(RYR3):c.7311C>G (p.His2437Gln) rs372825727
NM_001036.6(RYR3):c.7389G>T (p.Arg2463Ser) rs763616243
NM_001036.6(RYR3):c.7391A>G (p.Asp2464Gly) rs1229836411
NM_001036.6(RYR3):c.7399G>A (p.Glu2467Lys) rs765011115
NM_001036.6(RYR3):c.7411C>T (p.Leu2471Phe) rs1313404758
NM_001036.6(RYR3):c.7463G>T (p.Arg2488Leu) rs1323254560
NM_001036.6(RYR3):c.7502A>G (p.Lys2501Arg) rs2069456146
NM_001036.6(RYR3):c.7570T>G (p.Trp2524Gly) rs750760036
NM_001036.6(RYR3):c.7571_7572delinsTC (p.Trp2524Phe) rs2152832472
NM_001036.6(RYR3):c.7588G>T (p.Ala2530Ser) rs1278108928
NM_001036.6(RYR3):c.7621C>G (p.Leu2541Val) rs760687309
NM_001036.6(RYR3):c.766G>A (p.Ala256Thr) rs1555522270
NM_001036.6(RYR3):c.7775T>A (p.Val2592Glu) rs2069910315
NM_001036.6(RYR3):c.7804C>T (p.Pro2602Ser) rs1555433914
NM_001036.6(RYR3):c.7847A>G (p.Tyr2616Cys) rs2070235536
NM_001036.6(RYR3):c.7899+6G>A rs1244617514
NM_001036.6(RYR3):c.7952A>C (p.His2651Pro) rs2070686005
NM_001036.6(RYR3):c.8038C>G (p.Leu2680Val) rs2070931192
NM_001036.6(RYR3):c.8044G>A (p.Val2682Met) rs2152845782
NM_001036.6(RYR3):c.8134C>G (p.Gln2712Glu) rs1933408860
NM_001036.6(RYR3):c.821G>T (p.Ser274Ile) rs2056571810
NM_001036.6(RYR3):c.8228A>C (p.Tyr2743Ser) rs367645544
NM_001036.6(RYR3):c.8228A>G (p.Tyr2743Cys) rs367645544
NM_001036.6(RYR3):c.8232C>G (p.His2744Gln) rs2071123542
NM_001036.6(RYR3):c.840G>A (p.Trp280Ter) rs2056574150
NM_001036.6(RYR3):c.8442G>T (p.Lys2814Asn) rs2071683490
NM_001036.6(RYR3):c.8445G>T (p.Arg2815Ser) rs867153299
NM_001036.6(RYR3):c.8506G>C (p.Ala2836Pro) rs2071688750
NM_001036.6(RYR3):c.8642C>T (p.Ser2881Phe) rs1342260343
NM_001036.6(RYR3):c.8706C>A (p.Gly2902=) rs774409645
NM_001036.6(RYR3):c.877C>T (p.His293Tyr) rs2056578798
NM_001036.6(RYR3):c.8835C>G (p.Gly2945=) rs568295672
NM_001036.6(RYR3):c.8842C>G (p.Leu2948Val)
NM_001036.6(RYR3):c.8917C>T (p.Leu2973Phe) rs1425978893
NM_001036.6(RYR3):c.8939G>A (p.Arg2980Gln) rs200346049
NM_001036.6(RYR3):c.8987C>T (p.Ala2996Val) rs1315782115
NM_001036.6(RYR3):c.9056-2A>G rs2073772349
NM_001036.6(RYR3):c.9095G>A (p.Ser3032Asn) rs1567143157
NM_001036.6(RYR3):c.9143G>A (p.Arg3048His) rs139568967
NM_001036.6(RYR3):c.9241A>G (p.Asn3081Asp) rs2074306451
NM_001036.6(RYR3):c.9262A>T (p.Arg3088Trp) rs2074308170
NM_001036.6(RYR3):c.9271C>G (p.Leu3091Val) rs2074662147
NM_001036.6(RYR3):c.9283G>A (p.Asp3095Asn) rs2074663035
NM_001036.6(RYR3):c.9332T>G (p.Met3111Arg) rs1555456725
NM_001036.6(RYR3):c.9335A>G (p.Lys3112Arg) rs2152908209
NM_001036.6(RYR3):c.9344A>G (p.Asn3115Ser) rs923528632
NM_001036.6(RYR3):c.9362G>A (p.Gly3121Glu) rs2074668657
NM_001036.6(RYR3):c.9365C>T (p.Ala3122Val) rs2074669089
NM_001036.6(RYR3):c.938C>A (p.Thr313Asn) rs1171648016
NM_001036.6(RYR3):c.940A>G (p.Lys314Glu) rs1595549414
NM_001036.6(RYR3):c.9443G>T (p.Arg3148Leu) rs770219178
NM_001036.6(RYR3):c.9529C>G (p.Leu3177Val) rs555061771
NM_001036.6(RYR3):c.962G>A (p.Arg321Gln) rs780970109
NM_001036.6(RYR3):c.9635G>A (p.Arg3212Lys) rs769503316
NM_001036.6(RYR3):c.9646A>G (p.Ile3216Val) rs762804569
NM_001036.6(RYR3):c.9742G>C (p.Glu3248Gln) rs368537521
NM_001036.6(RYR3):c.9760G>T (p.Glu3254Ter) rs774163504
NM_001036.6(RYR3):c.9767C>T (p.Ala3256Val) rs775224723
NM_001036.6(RYR3):c.9788A>T (p.Tyr3263Phe) rs1299339478
NM_001036.6(RYR3):c.9983C>T (p.Thr3328Ile) rs1596670092
NM_004104.5(FASN):c.1018G>T (p.Ala340Ser) rs1469173192
NM_004104.5(FASN):c.1029+6T>C
NM_004104.5(FASN):c.1045G>A (p.Glu349Lys) rs1598582490
NM_004104.5(FASN):c.1077C>A (p.Phe359Leu) rs977628292
NM_004104.5(FASN):c.1081A>G (p.Ser361Gly)
NM_004104.5(FASN):c.1114G>A (p.Gly372Arg) rs1555668921
NM_004104.5(FASN):c.1126G>T (p.Val376Leu) rs370752560
NM_004104.5(FASN):c.112C>T (p.Arg38Cys)
NM_004104.5(FASN):c.1144C>T (p.Pro382Ser)
NM_004104.5(FASN):c.1150C>T (p.Arg384Cys) rs762823912
NM_004104.5(FASN):c.1156G>A (p.Gly386Ser) rs1025675707
NM_004104.5(FASN):c.1168A>G (p.Ile390Val)
NM_004104.5(FASN):c.1210C>G (p.Leu404Val) rs2034207930
NM_004104.5(FASN):c.1225C>A (p.Gln409Lys)
NM_004104.5(FASN):c.1231C>T (p.Pro411Ser) rs1209369034
NM_004104.5(FASN):c.1240C>G (p.Pro414Ala) rs1376741615
NM_004104.5(FASN):c.1243G>A (p.Ala415Thr) rs376821046
NM_004104.5(FASN):c.1243G>C (p.Ala415Pro)
NM_004104.5(FASN):c.126G>A (p.Ala42=)
NM_004104.5(FASN):c.1274G>T (p.Arg425Leu)
NM_004104.5(FASN):c.128_130delinsATT (p.Gly43_Leu44delinsAspPhe) rs1555669729
NM_004104.5(FASN):c.1301T>C (p.Val434Ala)
NM_004104.5(FASN):c.1346C>G (p.Ala449Gly) rs1025708321
NM_004104.5(FASN):c.1354A>G (p.Ser452Gly)
NM_004104.5(FASN):c.136G>A (p.Gly46Ser) rs199926630
NM_004104.5(FASN):c.1382CCGCCA[3] (p.Ala464_Met465insThrAla)
NM_004104.5(FASN):c.1384G>C (p.Ala462Pro) rs141275719
NM_004104.5(FASN):c.1388C>A (p.Thr463Asn) rs2034202857
NM_004104.5(FASN):c.1388C>T (p.Thr463Ile)
NM_004104.5(FASN):c.1393A>G (p.Met465Val)
NM_004104.5(FASN):c.1405G>A (p.Gly469Ser) rs2034202136
NM_004104.5(FASN):c.1408T>A (p.Tyr470Asn) rs777106829
NM_004104.5(FASN):c.1429C>A (p.Arg477Ser) rs1009899437
NM_004104.5(FASN):c.1430G>A (p.Arg477His) rs113931914
NM_004104.5(FASN):c.1438C>G (p.Pro480Ala)
NM_004104.5(FASN):c.143C>T (p.Pro48Leu)
NM_004104.5(FASN):c.1459G>T (p.Ala487Ser)
NM_004104.5(FASN):c.1469G>C (p.Arg490Pro)
NM_004104.5(FASN):c.1490C>T (p.Ser497Phe) rs2034200047
NM_004104.5(FASN):c.149G>A (p.Arg50Gln) rs1033185657
NM_004104.5(FASN):c.1511G>A (p.Arg504His)
NM_004104.5(FASN):c.1513G>A (p.Gly505Arg)
NM_004104.5(FASN):c.1518G>A (p.Met506Ile)
NM_004104.5(FASN):c.1534C>G (p.Arg512Gly) rs767886787
NM_004104.5(FASN):c.1534C>T (p.Arg512Cys) rs767886787
NM_004104.5(FASN):c.1550G>A (p.Arg517Gln)
NM_004104.5(FASN):c.1558A>G (p.Ile520Val) rs1401477268
NM_004104.5(FASN):c.1568C>T (p.Ser523Phe) rs1555668714
NM_004104.5(FASN):c.1574A>T (p.Glu525Val) rs2034194810
NM_004104.5(FASN):c.1577C>T (p.Ala526Val) rs1449518570
NM_004104.5(FASN):c.1584G>A (p.Lys528=)
NM_004104.5(FASN):c.1622C>T (p.Thr541Ile)
NM_004104.5(FASN):c.1626C>G (p.Asp542Glu) rs142807582
NM_004104.5(FASN):c.1631G>A (p.Ser544Asn) rs1351671185
NM_004104.5(FASN):c.164A>G (p.Lys55Arg) rs2034287411
NM_004104.5(FASN):c.1669A>T (p.Thr557Ser) rs1598581632
NM_004104.5(FASN):c.1681A>G (p.Ile561Val)
NM_004104.5(FASN):c.1724A>G (p.Asp575Gly)
NM_004104.5(FASN):c.1768G>A (p.Ala590Thr)
NM_004104.5(FASN):c.176G>A (p.Arg59Lys)
NM_004104.5(FASN):c.1808C>T (p.Ala603Val) rs1421967138
NM_004104.5(FASN):c.1823A>G (p.Gln608Arg)
NM_004104.5(FASN):c.1838C>T (p.Ala613Val)
NM_004104.5(FASN):c.1849C>A (p.Pro617Thr)
NM_004104.5(FASN):c.1850C>G (p.Pro617Arg) rs45444391
NM_004104.5(FASN):c.1876_1877inv (p.Ser626Asp)
NM_004104.5(FASN):c.1906C>T (p.Pro636Ser) rs768860580
NM_004104.5(FASN):c.1907dup (p.Val638fs)
NM_004104.5(FASN):c.1912G>A (p.Val638Met)
NM_004104.5(FASN):c.1921G>A (p.Ala641Thr) rs199640764
NM_004104.5(FASN):c.1934C>G (p.Ser645Cys) rs2034167595
NM_004104.5(FASN):c.1966-9G>C
NM_004104.5(FASN):c.196G>A (p.Gly66Arg)
NM_004104.5(FASN):c.1987G>A (p.Glu663Lys) rs1307566122
NM_004104.5(FASN):c.2000_2015dup (p.Lys673fs)
NM_004104.5(FASN):c.2004G>C (p.Glu668Asp) rs2034162227
NM_004104.5(FASN):c.2008G>A (p.Val670Met)
NM_004104.5(FASN):c.2027G>A (p.Arg676Gln)
NM_004104.5(FASN):c.2059A>G (p.Met687Val)
NM_004104.5(FASN):c.2065G>A (p.Ala689Thr) rs999063855
NM_004104.5(FASN):c.2071G>A (p.Ala691Thr)
NM_004104.5(FASN):c.2097G>C (p.Lys699Asn) rs2144798745
NM_004104.5(FASN):c.2100+3G>A
NM_004104.5(FASN):c.2108G>A (p.Arg703Gln)
NM_004104.5(FASN):c.2172C>G (p.Ser724Arg) rs1030492532
NM_004104.5(FASN):c.2179G>A (p.Ala727Thr) rs2034157106
NM_004104.5(FASN):c.2182C>T (p.Arg728Cys)
NM_004104.5(FASN):c.2204A>G (p.Asn735Ser) rs1490645498
NM_004104.5(FASN):c.224T>C (p.Met75Thr)
NM_004104.5(FASN):c.2251C>T (p.His751Tyr)
NM_004104.5(FASN):c.2253C>A (p.His751Gln) rs757099118
NM_004104.5(FASN):c.2263C>T (p.His755Tyr)
NM_004104.5(FASN):c.2267C>T (p.Ala756Val)
NM_004104.5(FASN):c.2269G>A (p.Val757Met) rs1555668215
NM_004104.5(FASN):c.2304+3A>G rs1568113090
NM_004104.5(FASN):c.2305-3C>T rs2144797866
NM_004104.5(FASN):c.2334C>G (p.Ser778Arg) rs754835400
NM_004104.5(FASN):c.2339C>T (p.Thr780Ile)
NM_004104.5(FASN):c.2393C>T (p.Ala798Val)
NM_004104.5(FASN):c.2396G>T (p.Gly799Val) rs1380789811
NM_004104.5(FASN):c.2420+4G>T
NM_004104.5(FASN):c.2428G>A (p.Ala810Thr) rs963388974
NM_004104.5(FASN):c.2449C>T (p.Pro817Ser) rs370847437
NM_004104.5(FASN):c.2453C>G (p.Pro818Arg) rs774528608
NM_004104.5(FASN):c.2463C>G (p.Phe821Leu)
NM_004104.5(FASN):c.2511C>G (p.Asp837Glu)
NM_004104.5(FASN):c.2516G>A (p.Ser839Asn)
NM_004104.5(FASN):c.2530G>A (p.Val844Met)
NM_004104.5(FASN):c.2536G>A (p.Ala846Thr)
NM_004104.5(FASN):c.2542G>A (p.Glu848Lys)
NM_004104.5(FASN):c.2544G>C (p.Glu848Asp) rs2034144899
NM_004104.5(FASN):c.2578G>A (p.Ala860Thr)
NM_004104.5(FASN):c.2585ACA[1] (p.Asn863del)
NM_004104.5(FASN):c.2600G>C (p.Ser867Thr)
NM_004104.5(FASN):c.2617C>T (p.His873Tyr) rs2034141524
NM_004104.5(FASN):c.2626G>A (p.Val876Met)
NM_004104.5(FASN):c.2645G>T (p.Gly882Val) rs371010865
NM_004104.5(FASN):c.2647C>T (p.Arg883Cys)
NM_004104.5(FASN):c.2669G>T (p.Gly890Val) rs1181727150
NM_004104.5(FASN):c.2678G>A (p.Ser893Asn) rs1190129055
NM_004104.5(FASN):c.2680A>G (p.Ile894Val) rs2034140090
NM_004104.5(FASN):c.2682A>G (p.Ile894Met)
NM_004104.5(FASN):c.2683G>C (p.Val895Leu) rs376331574
NM_004104.5(FASN):c.2684T>C (p.Val895Ala)
NM_004104.5(FASN):c.2693C>G (p.Thr898Arg) rs201967800
NM_004104.5(FASN):c.2722G>C (p.Glu908Gln) rs764010871
NM_004104.5(FASN):c.2760C>G (p.His920Gln)
NM_004104.5(FASN):c.2776C>T (p.Pro926Ser)
NM_004104.5(FASN):c.2789C>T (p.Thr930Ile) rs2144795862
NM_004104.5(FASN):c.2806C>G (p.Arg936Gly)
NM_004104.5(FASN):c.2825G>T (p.Arg942Leu) rs775022621
NM_004104.5(FASN):c.2833G>A (p.Glu945Lys) rs1568112060
NM_004104.5(FASN):c.2867-4A>T
NM_004104.5(FASN):c.2880G>A (p.Gln960=)
NM_004104.5(FASN):c.2899A>G (p.Arg967Gly)
NM_004104.5(FASN):c.2902C>T (p.Leu968Phe) rs1323257475
NM_004104.5(FASN):c.2908G>T (p.Asp970Tyr)
NM_004104.5(FASN):c.2909A>G (p.Asp970Gly) rs1230079847
NM_004104.5(FASN):c.2913C>G (p.His971Gln)
NM_004104.5(FASN):c.2923C>T (p.Pro975Ser)
NM_004104.5(FASN):c.2924C>A (p.Pro975His) rs369418619
NM_004104.5(FASN):c.2927C>A (p.Thr976Asn)
NM_004104.5(FASN):c.292G>A (p.Asp98Asn) rs1008936868
NM_004104.5(FASN):c.292G>C (p.Asp98His) rs1008936868
NM_004104.5(FASN):c.2930C>G (p.Pro977Arg) rs370507537
NM_004104.5(FASN):c.2930C>T (p.Pro977Leu) rs370507537
NM_004104.5(FASN):c.2933_2938dup (p.Pro979_Thr980insAsnPro)
NM_004104.5(FASN):c.2939C>A (p.Thr980Lys) rs777367345
NM_004104.5(FASN):c.2939C>T (p.Thr980Met) rs777367345
NM_004104.5(FASN):c.2945C>T (p.Pro982Leu) rs1467640635
NM_004104.5(FASN):c.2974A>C (p.Lys992Gln) rs2034131174
NM_004104.5(FASN):c.2990G>T (p.Arg997Leu) rs765011040
NM_004104.5(FASN):c.3004G>A (p.Gly1002Ser)
NM_004104.5(FASN):c.3007C>T (p.Pro1003Ser)
NM_004104.5(FASN):c.3008C>T (p.Pro1003Leu)
NM_004104.5(FASN):c.3030_3041dup (p.Ala1011_Glu1014dup) rs1598578904
NM_004104.5(FASN):c.3040G>A (p.Glu1014Lys)
NM_004104.5(FASN):c.3042A>G (p.Glu1014=) rs1209861481
NM_004104.5(FASN):c.3043+5G>T
NM_004104.5(FASN):c.3077G>A (p.Trp1026Ter) rs2144794599
NM_004104.5(FASN):c.3088A>G (p.Met1030Val)
NM_004104.5(FASN):c.3089T>C (p.Met1030Thr)
NM_004104.5(FASN):c.3116T>C (p.Leu1039Pro) rs1598578684
NM_004104.5(FASN):c.3124G>A (p.Ala1042Thr)
NM_004104.5(FASN):c.3128A>T (p.Lys1043Met) rs756910426
NM_004104.5(FASN):c.314C>T (p.Thr105Ile) rs2034256259
NM_004104.5(FASN):c.3169A>G (p.Ile1057Val)
NM_004104.5(FASN):c.3171C>G (p.Ile1057Met)
NM_004104.5(FASN):c.3176C>T (p.Pro1059Leu)
NM_004104.5(FASN):c.3182C>T (p.Thr1061Ile) rs1026002260
NM_004104.5(FASN):c.3217G>T (p.Ala1073Ser)
NM_004104.5(FASN):c.3226G>A (p.Ala1076Thr)
NM_004104.5(FASN):c.3227C>G (p.Ala1076Gly) rs754514615
NM_004104.5(FASN):c.3232G>C (p.Val1078Leu) rs146146551
NM_004104.5(FASN):c.3232GTG[2] (p.Val1080del) rs760111042
NM_004104.5(FASN):c.3241A>G (p.Ser1081Gly) rs1568111313
NM_004104.5(FASN):c.3245G>C (p.Arg1082Thr) rs2144793910
NM_004104.5(FASN):c.3255G>T (p.Arg1085Ser)
NM_004104.5(FASN):c.3286G>A (p.Gly1096Arg) rs62642478
NM_004104.5(FASN):c.3292C>A (p.His1098Asn) rs2034119895
NM_004104.5(FASN):c.329G>C (p.Gly110Ala) rs1401029858
NM_004104.5(FASN):c.3312dup (p.Arg1105fs) rs2034119402
NM_004104.5(FASN):c.3313C>T (p.Arg1105Trp)
NM_004104.5(FASN):c.3323_3331del (p.Glu1108_Gln1110del) rs775065708
NM_004104.5(FASN):c.3345G>C (p.Glu1115Asp) rs1481274971
NM_004104.5(FASN):c.3358A>G (p.Thr1120Ala)
NM_004104.5(FASN):c.3364C>T (p.His1122Tyr)
NM_004104.5(FASN):c.3373G>A (p.Glu1125Lys)
NM_004104.5(FASN):c.3391C>T (p.Arg1131Cys)
NM_004104.5(FASN):c.3397G>A (p.Ala1133Thr)
NM_004104.5(FASN):c.3418C>G (p.Leu1140Val) rs1179838417
NM_004104.5(FASN):c.3428-3C>T
NM_004104.5(FASN):c.3428G>A (p.Gly1143Glu) rs1346789622
NM_004104.5(FASN):c.3442C>G (p.Leu1148Val)
NM_004104.5(FASN):c.3478G>T (p.Val1160Leu)
NM_004104.5(FASN):c.3493G>C (p.Asp1165His) rs2034103688
NM_004104.5(FASN):c.3499G>T (p.Ala1167Ser)
NM_004104.5(FASN):c.3511C>G (p.Arg1171Gly)
NM_004104.5(FASN):c.3517C>T (p.Pro1173Ser)
NM_004104.5(FASN):c.3523CAG[1] (p.Gln1176del)
NM_004104.5(FASN):c.3526C>G (p.Gln1176Glu) rs2144792359
NM_004104.5(FASN):c.3585G>C (p.Gln1195His) rs920149225
NM_004104.5(FASN):c.3586C>G (p.Leu1196Val) rs1177370577
NM_004104.5(FASN):c.3595G>A (p.Ala1199Thr) rs1249074009
NM_004104.5(FASN):c.3597_3608del (p.Val1201_Gln1204del) rs1555667489
NM_004104.5(FASN):c.3613G>A (p.Glu1205Lys) rs1273965984
NM_004104.5(FASN):c.3628C>T (p.Pro1210Ser) rs765711560
NM_004104.5(FASN):c.3649G>A (p.Gly1217Ser)
NM_004104.5(FASN):c.3652C>T (p.Leu1218Phe) rs1241494145
NM_004104.5(FASN):c.3659A>G (p.Asp1220Gly)
NM_004104.5(FASN):c.3665C>G (p.Pro1222Arg) rs779872658
NM_004104.5(FASN):c.3670C>T (p.Leu1224Phe) rs2034097272
NM_004104.5(FASN):c.3674A>G (p.Lys1225Arg)
NM_004104.5(FASN):c.3705G>A (p.Met1235Ile) rs766761539
NM_004104.5(FASN):c.3705G>C (p.Met1235Ile) rs766761539
NM_004104.5(FASN):c.3705G>T (p.Met1235Ile) rs766761539
NM_004104.5(FASN):c.371C>G (p.Pro124Arg)
NM_004104.5(FASN):c.3734T>C (p.Val1245Ala) rs2144791290
NM_004104.5(FASN):c.3741_3742inv (p.Gly1248Ser)
NM_004104.5(FASN):c.3748G>A (p.Gly1250Ser) rs868514644
NM_004104.5(FASN):c.3764G>T (p.Arg1255Leu)
NM_004104.5(FASN):c.3772G>A (p.Gly1258Ser)
NM_004104.5(FASN):c.3793C>G (p.Leu1265Val) rs1289578764
NM_004104.5(FASN):c.3830C>G (p.Pro1277Arg) rs763270424
NM_004104.5(FASN):c.3874G>A (p.Val1292Ile) rs773063554
NM_004104.5(FASN):c.3874G>T (p.Val1292Phe) rs773063554
NM_004104.5(FASN):c.3883G>A (p.Gly1295Ser)
NM_004104.5(FASN):c.3888G>T (p.Gln1296His) rs778370442
NM_004104.5(FASN):c.3892G>A (p.Asp1298Asn)
NM_004104.5(FASN):c.3902A>G (p.Asp1301Gly)
NM_004104.5(FASN):c.3905C>A (p.Pro1302His) rs2034085815
NM_004104.5(FASN):c.3943T>G (p.Cys1315Gly)
NM_004104.5(FASN):c.3956T>C (p.Val1319Ala) rs2034084004
NM_004104.5(FASN):c.3962C>T (p.Ala1321Val)
NM_004104.5(FASN):c.3967G>C (p.Gly1323Arg) rs377195488
NM_004104.5(FASN):c.3994A>G (p.Met1332Val)
NM_004104.5(FASN):c.3996G>C (p.Met1332Ile) rs2034082378
NM_004104.5(FASN):c.4043T>C (p.Leu1348Pro) rs766588417
NM_004104.5(FASN):c.4046G>A (p.Arg1349Gln) rs139276176
NM_004104.5(FASN):c.4060G>A (p.Gly1354Arg)
NM_004104.5(FASN):c.4078C>G (p.Leu1360Val)
NM_004104.5(FASN):c.4124A>T (p.Asp1375Val)
NM_004104.5(FASN):c.413C>A (p.Ala138Glu) rs2144808481
NM_004104.5(FASN):c.4147A>G (p.Arg1383Gly)
NM_004104.5(FASN):c.4160G>A (p.Arg1387His)
NM_004104.5(FASN):c.4166T>C (p.Val1389Ala)
NM_004104.5(FASN):c.4175A>G (p.Lys1392Arg) rs551168545
NM_004104.5(FASN):c.4189G>A (p.Gly1397Ser)
NM_004104.5(FASN):c.4193C>G (p.Ser1398Cys)
NM_004104.5(FASN):c.4213C>T (p.Arg1405Trp)
NM_004104.5(FASN):c.4223C>T (p.Pro1408Leu) rs1438367361
NM_004104.5(FASN):c.4231A>C (p.Ser1411Arg)
NM_004104.5(FASN):c.4240T>C (p.Phe1414Leu)
NM_004104.5(FASN):c.4252G>C (p.Asp1418His) rs2144789760
NM_004104.5(FASN):c.4256A>C (p.Asp1419Ala) rs2034072605
NM_004104.5(FASN):c.4259C>G (p.Thr1420Ser)
NM_004104.5(FASN):c.4268G>A (p.Arg1423His)
NM_004104.5(FASN):c.4277A>G (p.Glu1426Gly)
NM_004104.5(FASN):c.4293C>G (p.Ile1431Met) rs374289785
NM_004104.5(FASN):c.4310_4311del (p.Ser1437fs) rs1555667112
NM_004104.5(FASN):c.4318C>T (p.Pro1440Ser)
NM_004104.5(FASN):c.4337_4339del (p.Ile1446del) rs750351947
NM_004104.5(FASN):c.4343G>C (p.Cys1448Ser) rs1421575793
NM_004104.5(FASN):c.436TTC[2] (p.Phe148del)
NM_004104.5(FASN):c.4393G>A (p.Gly1465Ser) rs763072807
NM_004104.5(FASN):c.4393G>T (p.Gly1465Cys)
NM_004104.5(FASN):c.4395C>T (p.Gly1465=)
NM_004104.5(FASN):c.4396G>A (p.Gly1466Arg) rs765227044
NM_004104.5(FASN):c.4398_4400inv (p.Asn1467Ser)
NM_004104.5(FASN):c.4405C>A (p.Leu1469Ile)
NM_004104.5(FASN):c.4410-2dup rs2144788994
NM_004104.5(FASN):c.4420C>T (p.Leu1474Phe) rs1220057320
NM_004104.5(FASN):c.4427A>G (p.Asn1476Ser) rs1317008880
NM_004104.5(FASN):c.4452G>A (p.Pro1484=)
NM_004104.5(FASN):c.4455G>C (p.Glu1485Asp) rs181585755
NM_004104.5(FASN):c.4462C>T (p.Pro1488Ser)
NM_004104.5(FASN):c.4469C>T (p.Ser1490Phe)
NM_004104.5(FASN):c.4472C>T (p.Ala1491Val)
NM_004104.5(FASN):c.4483_4485del (p.Lys1495del) rs2034061491
NM_004104.5(FASN):c.4495G>A (p.Gly1499Arg)
NM_004104.5(FASN):c.4547A>G (p.His1516Arg) rs2144788689
NM_004104.5(FASN):c.4561G>A (p.Glu1521Lys) rs2144788662
NM_004104.5(FASN):c.4576G>A (p.Glu1526Lys)
NM_004104.5(FASN):c.4580C>A (p.Pro1527Gln)
NM_004104.5(FASN):c.4606C>G (p.Leu1536Val) rs1282919586
NM_004104.5(FASN):c.4634G>A (p.Arg1545His) rs41283363
NM_004104.5(FASN):c.4649C>T (p.Ser1550Leu) rs759056728
NM_004104.5(FASN):c.4651C>G (p.Leu1551Val) rs2034055539
NM_004104.5(FASN):c.4655G>T (p.Arg1552Leu) rs774834763
NM_004104.5(FASN):c.4666C>T (p.Pro1556Ser)
NM_004104.5(FASN):c.4670C>T (p.Thr1557Ile) rs2144788184
NM_004104.5(FASN):c.4675C>G (p.Pro1559Ala)
NM_004104.5(FASN):c.4685A>C (p.Gln1562Pro) rs752553190
NM_004104.5(FASN):c.4705G>T (p.Ala1569Ser) rs914258123
NM_004104.5(FASN):c.4738A>G (p.Thr1580Ala)
NM_004104.5(FASN):c.4769-3C>T
NM_004104.5(FASN):c.4769-5C>G
NM_004104.5(FASN):c.4769-7C>A
NM_004104.5(FASN):c.4787A>G (p.Asp1596Gly)
NM_004104.5(FASN):c.4809C>A (p.Phe1603Leu) rs2144787631
NM_004104.5(FASN):c.4834C>G (p.Arg1612Gly)
NM_004104.5(FASN):c.4849G>C (p.Val1617Leu)
NM_004104.5(FASN):c.4892A>C (p.Asp1631Ala)
NM_004104.5(FASN):c.4898T>G (p.Leu1633Arg) rs1258841295
NM_004104.5(FASN):c.4905T>G (p.Asp1635Glu)
NM_004104.5(FASN):c.4919+4A>T rs563235937
NM_004104.5(FASN):c.4919G>T (p.Trp1640Leu)
NM_004104.5(FASN):c.4930G>A (p.Glu1644Lys)
NM_004104.5(FASN):c.4931A>C (p.Glu1644Ala) rs867655381
NM_004104.5(FASN):c.4931A>G (p.Glu1644Gly) rs867655381
NM_004104.5(FASN):c.4933G>T (p.Ala1645Ser) rs1568108097
NM_004104.5(FASN):c.4934C>T (p.Ala1645Val) rs1205888170
NM_004104.5(FASN):c.5002G>C (p.Gly1668Arg) rs766731567
NM_004104.5(FASN):c.5050G>A (p.Ala1684Thr)
NM_004104.5(FASN):c.5051C>T (p.Ala1684Val) rs2034041068
NM_004104.5(FASN):c.5053ATCGCC[3] (p.1685IA[3]) rs2034040691
NM_004104.5(FASN):c.5055C>G (p.Ile1685Met) rs748214805
NM_004104.5(FASN):c.5075G>A (p.Gly1692Asp) rs985360673
NM_004104.5(FASN):c.5095G>A (p.Val1699Met) rs763579516
NM_004104.5(FASN):c.5095G>C (p.Val1699Leu) rs763579516
NM_004104.5(FASN):c.5099G>C (p.Gly1700Ala)
NM_004104.5(FASN):c.5102C>T (p.Ser1701Leu)
NM_004104.5(FASN):c.5104G>C (p.Ala1702Pro) rs1045946649
NM_004104.5(FASN):c.5133G>T (p.Arg1711Ser) rs2034037005
NM_004104.5(FASN):c.5140C>G (p.Gln1714Glu) rs1598575285
NM_004104.5(FASN):c.5165A>G (p.Asn1722Ser)
NM_004104.5(FASN):c.5177C>T (p.Thr1726Ile) rs1206712630
NM_004104.5(FASN):c.5185G>A (p.Glu1729Lys)
NM_004104.5(FASN):c.5218+3G>A rs2034035248
NM_004104.5(FASN):c.5253G>C (p.Glu1751Asp)
NM_004104.5(FASN):c.5260C>A (p.Gln1754Lys) rs2034031385
NM_004104.5(FASN):c.5270T>C (p.Val1757Ala)
NM_004104.5(FASN):c.5289C>A (p.His1763Gln) rs778156553
NM_004104.5(FASN):c.5290G>A (p.Gly1764Ser) rs1448700720
NM_004104.5(FASN):c.5293C>T (p.Arg1765Cys)
NM_004104.5(FASN):c.5336C>G (p.Pro1779Arg)
NM_004104.5(FASN):c.5342-15G>A
NM_004104.5(FASN):c.5344A>G (p.Met1782Val) rs1243053165
NM_004104.5(FASN):c.5348C>T (p.Ala1783Val)
NM_004104.5(FASN):c.5365G>A (p.Val1789Met)
NM_004104.5(FASN):c.5366T>C (p.Val1789Ala)
NM_004104.5(FASN):c.5381T>C (p.Val1794Ala) rs2034027190
NM_004104.5(FASN):c.5392G>A (p.Ala1798Thr)
NM_004104.5(FASN):c.53A>G (p.Asn18Ser) rs1555669844
NM_004104.5(FASN):c.5429T>C (p.Val1810Ala) rs746141702
NM_004104.5(FASN):c.5447C>T (p.Ala1816Val) rs1389792090
NM_004104.5(FASN):c.5456G>T (p.Arg1819Leu) rs200377258
NM_004104.5(FASN):c.5481G>T (p.Lys1827Asn)
NM_004104.5(FASN):c.550A>C (p.Ile184Leu)
NM_004104.5(FASN):c.5513A>G (p.Asp1838Gly) rs2034024246
NM_004104.5(FASN):c.5545A>G (p.Ile1849Val)
NM_004104.5(FASN):c.5545A>T (p.Ile1849Phe)
NM_004104.5(FASN):c.5557G>A (p.Val1853Ile)
NM_004104.5(FASN):c.5566-19G>A
NM_004104.5(FASN):c.5573C>A (p.Ala1858Glu) rs376946680
NM_004104.5(FASN):c.5600_5602del (p.Gly1867del) rs746627809
NM_004104.5(FASN):c.5619G>A (p.Met1873Ile)
NM_004104.5(FASN):c.5621C>T (p.Ser1874Leu)
NM_004104.5(FASN):c.5632A>G (p.Lys1878Glu) rs2034020044
NM_004104.5(FASN):c.5636C>T (p.Thr1879Ile)
NM_004104.5(FASN):c.5644C>G (p.Pro1882Ala)
NM_004104.5(FASN):c.5647G>A (p.Ala1883Thr) rs2034019745
NM_004104.5(FASN):c.5651A>G (p.His1884Arg)
NM_004104.5(FASN):c.5665A>G (p.Ile1889Val) rs2144784664
NM_004104.5(FASN):c.566_567delinsGC (p.Asn189Ser) rs2034246362
NM_004104.5(FASN):c.5749C>T (p.Arg1917Cys)
NM_004104.5(FASN):c.5776G>A (p.Ala1926Thr)
NM_004104.5(FASN):c.5792G>T (p.Arg1931Leu)
NM_004104.5(FASN):c.5813A>G (p.Gln1938Arg) rs2144783878
NM_004104.5(FASN):c.5863C>T (p.Leu1955Phe)
NM_004104.5(FASN):c.5867T>C (p.Ile1956Thr)
NM_004104.5(FASN):c.5884C>T (p.Leu1962Phe)
NM_004104.5(FASN):c.5888G>C (p.Gly1963Ala) rs1396360653
NM_004104.5(FASN):c.5899G>A (p.Gly1967Ser)
NM_004104.5(FASN):c.5911C>A (p.Leu1971Met)
NM_004104.5(FASN):c.5927G>C (p.Arg1976Thr)
NM_004104.5(FASN):c.5953C>T (p.Pro1985Ser) rs1206085529
NM_004104.5(FASN):c.5957A>G (p.Glu1986Gly) rs2144783330
NM_004104.5(FASN):c.5992G>A (p.Gly1998Ser)
NM_004104.5(FASN):c.6011+4G>A
NM_004104.5(FASN):c.6014T>G (p.Val2005Gly) rs2228306
NM_004104.5(FASN):c.6016A>G (p.Thr2006Ala)
NM_004104.5(FASN):c.605G>T (p.Arg202Met) rs1598583802
NM_004104.5(FASN):c.6077G>A (p.Arg2026His)
NM_004104.5(FASN):c.6087G>A (p.Ala2029=)
NM_004104.5(FASN):c.6103G>A (p.Gly2035Ser)
NM_004104.5(FASN):c.6118G>A (p.Ala2040Thr) rs150748779
NM_004104.5(FASN):c.6146G>T (p.Arg2049Leu) rs373838349
NM_004104.5(FASN):c.6160C>T (p.Pro2054Ser) rs2144782637
NM_004104.5(FASN):c.6164-72_6164-18del
NM_004104.5(FASN):c.616C>G (p.Leu206Val) rs761025190
NM_004104.5(FASN):c.6193G>A (p.Asp2065Asn)
NM_004104.5(FASN):c.6207G>A (p.Leu2069=) rs1393596716
NM_004104.5(FASN):c.6208G>A (p.Val2070Met)
NM_004104.5(FASN):c.6218_6220del (p.Met2073del) rs752796028
NM_004104.5(FASN):c.6223A>G (p.Thr2075Ala) rs2144782038
NM_004104.5(FASN):c.6229G>C (p.Asp2077His) rs141935205
NM_004104.5(FASN):c.6247A>T (p.Thr2083Ser)
NM_004104.5(FASN):c.6254C>T (p.Pro2085Leu) rs1333166960
NM_004104.5(FASN):c.6259C>T (p.Arg2087Cys) rs1350305870
NM_004104.5(FASN):c.625G>C (p.Glu209Gln) rs1231782441
NM_004104.5(FASN):c.6260G>A (p.Arg2087His)
NM_004104.5(FASN):c.6265G>A (p.Ala2089Thr)
NM_004104.5(FASN):c.6266C>T (p.Ala2089Val)
NM_004104.5(FASN):c.6286G>A (p.Asp2096Asn) rs1274886343
NM_004104.5(FASN):c.6302A>G (p.Gln2101Arg) rs1234582468
NM_004104.5(FASN):c.6325T>C (p.Phe2109Leu)
NM_004104.5(FASN):c.6326T>G (p.Phe2109Cys)
NM_004104.5(FASN):c.6328G>A (p.Val2110Met) rs2144781820
NM_004104.5(FASN):c.632C>A (p.Thr211Asn) rs2034245165
NM_004104.5(FASN):c.632C>T (p.Thr211Ile)
NM_004104.5(FASN):c.6335C>T (p.Ala2112Val) rs756162629
NM_004104.5(FASN):c.6347C>T (p.Ala2116Val)
NM_004104.5(FASN):c.6352T>C (p.Tyr2118His)
NM_004104.5(FASN):c.6370C>T (p.Gln2124Ter) rs2033989007
NM_004104.5(FASN):c.6395C>G (p.Ala2132Gly) rs2033988397
NM_004104.5(FASN):c.6398A>G (p.His2133Arg)
NM_004104.5(FASN):c.6413G>A (p.Arg2138His)
NM_004104.5(FASN):c.6427G>C (p.Val2143Leu)
NM_004104.5(FASN):c.6472A>G (p.Met2158Val) rs2144781024
NM_004104.5(FASN):c.6488G>A (p.Arg2163His) rs1018160528
NM_004104.5(FASN):c.6492G>C (p.Gln2164His) rs1568104948
NM_004104.5(FASN):c.6503G>A (p.Arg2168His)
NM_004104.5(FASN):c.6506A>T (p.Glu2169Val) rs2144780951
NM_004104.5(FASN):c.6512A>C (p.Asn2171Thr) rs777691032
NM_004104.5(FASN):c.6559C>G (p.Leu2187Val) rs894407461
NM_004104.5(FASN):c.6578A>C (p.Lys2193Thr)
NM_004104.5(FASN):c.6580G>A (p.Ala2194Thr)
NM_004104.5(FASN):c.6595+12_6595+13inv
NM_004104.5(FASN):c.6595+4C>T rs749026558
NM_004104.5(FASN):c.6595+7G>A
NM_004104.5(FASN):c.6595G>A (p.Glu2199Lys) rs747906170
NM_004104.5(FASN):c.6614C>T (p.Pro2205Leu) rs964806081
NM_004104.5(FASN):c.6632C>T (p.Ala2211Val) rs2033975378
NM_004104.5(FASN):c.6662C>T (p.Ser2221Phe) rs774233186
NM_004104.5(FASN):c.6686C>G (p.Pro2229Arg) rs2144780114
NM_004104.5(FASN):c.6704A>G (p.Asn2235Ser) rs1440034704
NM_004104.5(FASN):c.6730C>G (p.Leu2244Val)
NM_004104.5(FASN):c.6739G>A (p.Val2247Met)
NM_004104.5(FASN):c.675G>A (p.Ser225=)
NM_004104.5(FASN):c.6787C>T (p.Arg2263Trp)
NM_004104.5(FASN):c.6803C>T (p.Thr2268Ile) rs781371574
NM_004104.5(FASN):c.6825A>G (p.Arg2275=)
NM_004104.5(FASN):c.6829G>A (p.Ala2277Thr) rs2033969506
NM_004104.5(FASN):c.6851G>A (p.Ser2284Asn) rs2144779595
NM_004104.5(FASN):c.6868A>G (p.Ile2290Val) rs575193007
NM_004104.5(FASN):c.6885G>A (p.Gln2295=)
NM_004104.5(FASN):c.6886G>T (p.Val2296Leu)
NM_004104.5(FASN):c.6908G>A (p.Arg2303His)
NM_004104.5(FASN):c.694dup (p.Leu232fs) rs2034240010
NM_004104.5(FASN):c.6971A>T (p.Gln2324Leu) rs2033966480
NM_004104.5(FASN):c.6977G>A (p.Ser2326Asn) rs1555665608
NM_004104.5(FASN):c.7033C>G (p.Leu2345Val)
NM_004104.5(FASN):c.7048-3C>T rs774665189
NM_004104.5(FASN):c.7057G>A (p.Ala2353Thr)
NM_004104.5(FASN):c.7094C>T (p.Thr2365Met)
NM_004104.5(FASN):c.7104A>G (p.Ile2368Met) rs2033961830
NM_004104.5(FASN):c.7134G>A (p.Met2378Ile)
NM_004104.5(FASN):c.7145G>C (p.Arg2382Thr) rs925836770
NM_004104.5(FASN):c.7147-10G>A rs372826234
NM_004104.5(FASN):c.7147-3C>T rs2033952357
NM_004104.5(FASN):c.7148T>C (p.Val2383Ala)
NM_004104.5(FASN):c.7189G>C (p.Val2397Leu)
NM_004104.5(FASN):c.7196C>G (p.Ala2399Gly)
NM_004104.5(FASN):c.7198G>A (p.Ala2400Thr)
NM_004104.5(FASN):c.7219A>T (p.Ser2407Cys)
NM_004104.5(FASN):c.7222C>T (p.His2408Tyr) rs778458089
NM_004104.5(FASN):c.7244A>T (p.Glu2415Val)
NM_004104.5(FASN):c.724G>T (p.Val242Leu)
NM_004104.5(FASN):c.7250G>A (p.Ser2417Asn) rs1312357934
NM_004104.5(FASN):c.7256C>T (p.Ala2419Val)
NM_004104.5(FASN):c.7259C>T (p.Ala2420Val) rs2144777609
NM_004104.5(FASN):c.7269C>A (p.Phe2423Leu)
NM_004104.5(FASN):c.7283G>A (p.Arg2428His)
NM_004104.5(FASN):c.7301C>T (p.Thr2434Ile)
NM_004104.5(FASN):c.7310C>T (p.Ala2437Val)
NM_004104.5(FASN):c.7349C>T (p.Thr2450Met) rs776351410
NM_004104.5(FASN):c.734C>G (p.Thr245Ser) rs970223725
NM_004104.5(FASN):c.7368G>C (p.Glu2456Asp) rs2033947765
NM_004104.5(FASN):c.736A>G (p.Ile246Val) rs1598583548
NM_004104.5(FASN):c.738C>G (p.Ile246Met) rs752837813
NM_004104.5(FASN):c.7398+4C>G rs369516022
NM_004104.5(FASN):c.7408G>A (p.Gly2470Arg)
NM_004104.5(FASN):c.7408G>C (p.Gly2470Arg) rs1184058748
NM_004104.5(FASN):c.742A>G (p.Asn248Asp) rs2144806943
NM_004104.5(FASN):c.7432G>A (p.Glu2478Lys) rs747059037
NM_004104.5(FASN):c.7444C>T (p.Arg2482Cys)
NM_004104.5(FASN):c.7496G>T (p.Ser2499Ile)
NM_004104.5(FASN):c.7516G>A (p.Val2506Met)
NM_004104.5(FASN):c.768C>G (p.Phe256Leu) rs960022929
NM_004104.5(FASN):c.779-32_779-8dup
NM_004104.5(FASN):c.795_796del (p.Asp267fs)
NM_004104.5(FASN):c.810G>T (p.Glu270Asp) rs750411892
NM_004104.5(FASN):c.813G>C (p.Gln271His) rs150075575
NM_004104.5(FASN):c.820C>A (p.Arg274Ser) rs562846615
NM_004104.5(FASN):c.820C>T (p.Arg274Cys) rs562846615
NM_004104.5(FASN):c.827T>C (p.Leu276Ser) rs1289567671
NM_004104.5(FASN):c.834G>T (p.Gln278His) rs1250533640
NM_004104.5(FASN):c.83G>T (p.Gly28Val)
NM_004104.5(FASN):c.851C>T (p.Pro284Leu) rs2144806470
NM_004104.5(FASN):c.855G>C (p.Glu285Asp) rs755195686
NM_004104.5(FASN):c.85G>T (p.Gly29Cys)
NM_004104.5(FASN):c.870C>G (p.Ile290Met) rs151114755
NM_004104.5(FASN):c.88G>A (p.Val30Met)
NM_004104.5(FASN):c.902A>G (p.Asp301Gly) rs1568116566
NM_004104.5(FASN):c.932C>T (p.Ala311Val)
NM_004104.5(FASN):c.944C>G (p.Thr315Ser) rs1218333942
NM_004104.5(FASN):c.947G>A (p.Arg316His)
NM_004104.5(FASN):c.951G>C (p.Gln317His) rs2034229066
NM_004104.5(FASN):c.954G>C (p.Glu318Asp)
NM_004104.5(FASN):c.9G>C (p.Glu3Asp) rs2144813365
NM_005458.8(GABBR2):c.1000-3C>T
NM_005458.8(GABBR2):c.1026CAA[2] (p.Asn344del)
NM_005458.8(GABBR2):c.1028A>G (p.Asn343Ser) rs1826284598
NM_005458.8(GABBR2):c.1037G>A (p.Arg346Gln)
NM_005458.8(GABBR2):c.1037G>T (p.Arg346Leu)
NM_005458.8(GABBR2):c.1054A>G (p.Ser352Gly)
NM_005458.8(GABBR2):c.1067G>C (p.Gly356Ala)
NM_005458.8(GABBR2):c.1091T>G (p.Val364Gly) rs2131603633
NM_005458.8(GABBR2):c.109C>T (p.Pro37Ser) rs1830934863
NM_005458.8(GABBR2):c.10C>A (p.Pro4Thr)
NM_005458.8(GABBR2):c.1108C>T (p.Gln370Ter)
NM_005458.8(GABBR2):c.1112G>A (p.Arg371Lys) rs1317133027
NM_005458.8(GABBR2):c.1119G>T (p.Met373Ile)
NM_005458.8(GABBR2):c.113G>A (p.Gly38Glu) rs1830934754
NM_005458.8(GABBR2):c.1141C>T (p.Arg381Trp) rs762809795
NM_005458.8(GABBR2):c.1150C>T (p.Arg384Trp)
NM_005458.8(GABBR2):c.1151G>A (p.Arg384Gln) rs1184728895
NM_005458.8(GABBR2):c.115G>T (p.Ala39Ser)
NM_005458.8(GABBR2):c.1198C>G (p.Leu400Val)
NM_005458.8(GABBR2):c.11C>A (p.Pro4Gln) rs1830938515
NM_005458.8(GABBR2):c.11C>T (p.Pro4Leu) rs1830938515
NM_005458.8(GABBR2):c.121G>T (p.Gly41Cys) rs1588292057
NM_005458.8(GABBR2):c.1220A>G (p.Asn407Ser) rs1564075329
NM_005458.8(GABBR2):c.1228G>A (p.Gly410Arg)
NM_005458.8(GABBR2):c.1238G>A (p.Gly413Asp) rs2131529814
NM_005458.8(GABBR2):c.123C>G (p.Gly41=) rs2131893076
NM_005458.8(GABBR2):c.1268T>C (p.Met423Thr) rs372195874
NM_005458.8(GABBR2):c.1280A>C (p.Lys427Thr)
NM_005458.8(GABBR2):c.128C>T (p.Ala43Val) rs1830934532
NM_005458.8(GABBR2):c.1304G>T (p.Arg435Met)
NM_005458.8(GABBR2):c.131G>C (p.Arg44Pro)
NM_005458.8(GABBR2):c.1330G>A (p.Ala444Thr)
NM_005458.8(GABBR2):c.1339G>A (p.Asp447Asn)
NM_005458.8(GABBR2):c.1342A>G (p.Thr448Ala)
NM_005458.8(GABBR2):c.1345C>G (p.Leu449Val) rs1832246644
NM_005458.8(GABBR2):c.136G>A (p.Ala46Thr)
NM_005458.8(GABBR2):c.1378+6G>A
NM_005458.8(GABBR2):c.137C>G (p.Ala46Gly) rs753441454
NM_005458.8(GABBR2):c.1386A>T (p.Glu462Asp) rs2131496387
NM_005458.8(GABBR2):c.1424G>T (p.Arg475Leu)
NM_005458.8(GABBR2):c.142C>G (p.Arg48Gly)
NM_005458.8(GABBR2):c.142C>T (p.Arg48Trp)
NM_005458.8(GABBR2):c.1450A>G (p.Ile484Val) rs1554698962
NM_005458.8(GABBR2):c.1474G>A (p.Gly492Arg) rs1184139603
NM_005458.8(GABBR2):c.149C>A (p.Pro50Gln) rs1830933722
NM_005458.8(GABBR2):c.1520G>C (p.Arg507Pro) rs772244503
NM_005458.8(GABBR2):c.1527G>T (p.Gln509His)
NM_005458.8(GABBR2):c.1530G>C (p.Lys510Asn)
NM_005458.8(GABBR2):c.1542G>A (p.Met514Ile)
NM_005458.8(GABBR2):c.1577G>C (p.Gly526Ala)
NM_005458.8(GABBR2):c.1634C>T (p.Ser545Phe)
NM_005458.8(GABBR2):c.163C>T (p.Pro55Ser)
NM_005458.8(GABBR2):c.1643C>T (p.Thr548Ile) rs758213559
NM_005458.8(GABBR2):c.164C>G (p.Pro55Arg) rs760155306
NM_005458.8(GABBR2):c.1656_1657del (p.Cys553fs)
NM_005458.8(GABBR2):c.1660A>G (p.Thr554Ala) rs990511532
NM_005458.8(GABBR2):c.1662+1G>A rs1832058906
NM_005458.8(GABBR2):c.1667G>A (p.Arg556Lys)
NM_005458.8(GABBR2):c.166C>A (p.Leu56Ile) rs1830933309
NM_005458.8(GABBR2):c.1694C>T (p.Thr565Met) rs1564035609
NM_005458.8(GABBR2):c.1738G>T (p.Ala580Ser) rs989871267
NM_005458.8(GABBR2):c.175A>T (p.Met59Leu) rs374226063
NM_005458.8(GABBR2):c.1778A>G (p.Lys593Arg)
NM_005458.8(GABBR2):c.1805G>C (p.Gly602Ala) rs1554695160
NM_005458.8(GABBR2):c.1808G>A (p.Gly603Asp)
NM_005458.8(GABBR2):c.1808G>T (p.Gly603Val) rs1564031721
NM_005458.8(GABBR2):c.1822G>A (p.Asp608Asn) rs978945843
NM_005458.8(GABBR2):c.1828T>C (p.Cys610Arg)
NM_005458.8(GABBR2):c.1880A>G (p.Lys627Arg)
NM_005458.8(GABBR2):c.1885A>G (p.Ser629Gly) rs769481084
NM_005458.8(GABBR2):c.1889T>C (p.Met630Thr) rs1831607786
NM_005458.8(GABBR2):c.1893+3A>G
NM_005458.8(GABBR2):c.1895C>T (p.Pro632Leu) rs775001610
NM_005458.8(GABBR2):c.1904C>T (p.Ala635Val)
NM_005458.8(GABBR2):c.1907G>A (p.Gly636Glu) rs1830630539
NM_005458.8(GABBR2):c.1909C>T (p.Arg637Trp)
NM_005458.8(GABBR2):c.1919C>T (p.Ser640Phe)
NM_005458.8(GABBR2):c.1925G>A (p.Arg642His) rs781275870
NM_005458.8(GABBR2):c.1938G>T (p.Glu646Asp) rs79484588
NM_005458.8(GABBR2):c.1944_1945del (p.Cys648_Glu649delinsTer) rs1564011668
NM_005458.8(GABBR2):c.194C>A (p.Thr65Asn) rs2131892959
NM_005458.8(GABBR2):c.1963A>G (p.Ile655Val)
NM_005458.8(GABBR2):c.1966T>C (p.Trp656Arg)
NM_005458.8(GABBR2):c.1972G>A (p.Gly658Ser) rs2131362006
NM_005458.8(GABBR2):c.1982A>G (p.Tyr661Cys) rs1830628717
NM_005458.8(GABBR2):c.1997T>A (p.Leu666His)
NM_005458.8(GABBR2):c.2002A>G (p.Met668Val) rs2131361931
NM_005458.8(GABBR2):c.2004+4G>A
NM_005458.8(GABBR2):c.2010C>T (p.Phe670=)
NM_005458.8(GABBR2):c.205G>C (p.Ala69Pro) rs1830932556
NM_005458.8(GABBR2):c.2062G>A (p.Asp688Asn) rs1830550022
NM_005458.8(GABBR2):c.2074A>G (p.Ile692Val)
NM_005458.8(GABBR2):c.2099G>A (p.Gly700Glu)
NM_005458.8(GABBR2):c.2122G>A (p.Ala708Thr) rs267602049
NM_005458.8(GABBR2):c.2122G>T (p.Ala708Ser)
NM_005458.8(GABBR2):c.2178G>A (p.Leu726=) rs1830547843
NM_005458.8(GABBR2):c.2229+3A>G
NM_005458.8(GABBR2):c.2229+4C>G
NM_005458.8(GABBR2):c.2273G>A (p.Arg758Lys)
NM_005458.8(GABBR2):c.2276G>A (p.Arg759Gln) rs2131350185
NM_005458.8(GABBR2):c.2290C>G (p.Gln764Glu) rs1830500205
NM_005458.8(GABBR2):c.2308G>A (p.Asp770Asn)
NM_005458.8(GABBR2):c.2313dup (p.Lys772Ter)
NM_005458.8(GABBR2):c.2338G>A (p.Val780Met)
NM_005458.8(GABBR2):c.2348C>G (p.Ala783Gly)
NM_005458.8(GABBR2):c.2360G>A (p.Arg787His) rs578253809
NM_005458.8(GABBR2):c.2367G>C (p.Glu789Asp) rs2131350009
NM_005458.8(GABBR2):c.2396G>A (p.Arg799Gln)
NM_005458.8(GABBR2):c.2411A>C (p.Glu804Ala)
NM_005458.8(GABBR2):c.2413-4_2413-3delinsCC
NM_005458.8(GABBR2):c.2425T>G (p.Leu809Val)
NM_005458.8(GABBR2):c.2443C>A (p.Gln815Lys)
NM_005458.8(GABBR2):c.2452G>A (p.Asp818Asn)
NM_005458.8(GABBR2):c.2461G>A (p.Glu821Lys)
NM_005458.8(GABBR2):c.2467A>G (p.Thr823Ala) rs2131344167
NM_005458.8(GABBR2):c.2471C>G (p.Thr824Ser) rs1830431118
NM_005458.8(GABBR2):c.2487C>A (p.Asn829Lys) rs2131344100
NM_005458.8(GABBR2):c.2497G>C (p.Glu833Gln) rs1369050795
NM_005458.8(GABBR2):c.249G>A (p.Leu83=) rs1257379454
NM_005458.8(GABBR2):c.2504A>G (p.Asn835Ser)
NM_005458.8(GABBR2):c.2510T>A (p.Ile837Asn) rs2131344029
NM_005458.8(GABBR2):c.2526C>G (p.Asn842Lys)
NM_005458.8(GABBR2):c.253A>G (p.Ile85Val) rs1230517696
NM_005458.8(GABBR2):c.2542+3A>G
NM_005458.8(GABBR2):c.2554G>C (p.Ala852Pro)
NM_005458.8(GABBR2):c.255C>G (p.Ile85Met) rs763713514
NM_005458.8(GABBR2):c.2562A>T (p.Leu854Phe)
NM_005458.8(GABBR2):c.2567A>G (p.Asn856Ser) rs1830340895
NM_005458.8(GABBR2):c.2584C>T (p.Pro862Ser) rs891861059
NM_005458.8(GABBR2):c.25C>G (p.Gln9Glu) rs1026022583
NM_005458.8(GABBR2):c.2602A>G (p.Thr868Ala)
NM_005458.8(GABBR2):c.2626A>G (p.Lys876Glu) rs758721783
NM_005458.8(GABBR2):c.2636T>C (p.Ile879Thr) rs992384149
NM_005458.8(GABBR2):c.2671C>T (p.Arg891Trp)
NM_005458.8(GABBR2):c.2672G>A (p.Arg891Gln)
NM_005458.8(GABBR2):c.2719A>G (p.Ile907Val)
NM_005458.8(GABBR2):c.271G>A (p.Glu91Lys) rs1830931663
NM_005458.8(GABBR2):c.2734G>A (p.Ala912Thr)
NM_005458.8(GABBR2):c.2752_2763del (p.914CVSP[1]) rs772966955
NM_005458.8(GABBR2):c.2755_2778dup (p.Val919_Arg926dup) rs2131331420
NM_005458.8(GABBR2):c.2764_2775del (p.Thr922_Pro925del)
NM_005458.8(GABBR2):c.2772C>G (p.Ser924Arg) rs767723805
NM_005458.8(GABBR2):c.2774_2776dup (p.Pro925dup) rs771637982
NM_005458.8(GABBR2):c.2777G>A (p.Arg926His)
NM_005458.8(GABBR2):c.2800T>C (p.Phe934Leu)
NM_005458.8(GABBR2):c.2803C>T (p.Arg935Ter) rs1238294679
NM_005458.8(GABBR2):c.2804G>A (p.Arg935Gln)
NM_005458.8(GABBR2):c.287C>T (p.Pro96Leu) rs1830931329
NM_005458.8(GABBR2):c.321G>A (p.Glu107=) rs773774151
NM_005458.8(GABBR2):c.322T>C (p.Cys108Arg) rs1828946531
NM_005458.8(GABBR2):c.328A>C (p.Asn110His)
NM_005458.8(GABBR2):c.343A>G (p.Lys115Glu)
NM_005458.8(GABBR2):c.34C>A (p.Pro12Thr) rs1229507395
NM_005458.8(GABBR2):c.355G>A (p.Asp119Asn) rs1021777878
NM_005458.8(GABBR2):c.379C>T (p.His127Tyr)
NM_005458.8(GABBR2):c.425T>C (p.Ile142Thr)
NM_005458.8(GABBR2):c.428C>T (p.Ala143Val) rs2131780419
NM_005458.8(GABBR2):c.440A>G (p.Gln147Arg) rs1828944019
NM_005458.8(GABBR2):c.454G>C (p.Val152Leu)
NM_005458.8(GABBR2):c.459+4A>G
NM_005458.8(GABBR2):c.48_59del (p.Pro17_Pro20del) rs1286951382
NM_005458.8(GABBR2):c.491C>A (p.Ala164Asp)
NM_005458.8(GABBR2):c.492C>A (p.Ala164=) rs533637833
NM_005458.8(GABBR2):c.508C>A (p.Pro170Thr)
NM_005458.8(GABBR2):c.512A>T (p.Tyr171Phe)
NM_005458.8(GABBR2):c.52C>T (p.Pro18Ser)
NM_005458.8(GABBR2):c.539A>G (p.Asn180Ser)
NM_005458.8(GABBR2):c.54GCC[3] (p.Pro20dup) rs2131893192
NM_005458.8(GABBR2):c.56C>A (p.Pro19Gln)
NM_005458.8(GABBR2):c.576C>A (p.His192Gln)
NM_005458.8(GABBR2):c.582G>C (p.Gln194His)
NM_005458.8(GABBR2):c.590G>T (p.Arg197Leu)
NM_005458.8(GABBR2):c.592G>A (p.Val198Met)
NM_005458.8(GABBR2):c.620G>C (p.Arg207Thr)
NM_005458.8(GABBR2):c.630+1G>A rs2131740463
NM_005458.8(GABBR2):c.643C>A (p.Leu215Met)
NM_005458.8(GABBR2):c.65G>A (p.Arg22His)
NM_005458.8(GABBR2):c.667G>A (p.Asp223Asn)
NM_005458.8(GABBR2):c.683A>G (p.Asp228Gly)
NM_005458.8(GABBR2):c.686C>A (p.Thr229Asn)
NM_005458.8(GABBR2):c.688G>A (p.Glu230Lys) rs1827281812
NM_005458.8(GABBR2):c.703G>A (p.Asp235Asn) rs1046552015
NM_005458.8(GABBR2):c.707C>T (p.Pro236Leu) rs1827281125
NM_005458.8(GABBR2):c.731A>G (p.Lys244Arg)
NM_005458.8(GABBR2):c.751A>G (p.Ile251Val) rs1588185283
NM_005458.8(GABBR2):c.755T>A (p.Leu252His)
NM_005458.8(GABBR2):c.757G>A (p.Gly253Ser)
NM_005458.8(GABBR2):c.779C>G (p.Ala260Gly)
NM_005458.8(GABBR2):c.792C>A (p.Phe264Leu)
NM_005458.8(GABBR2):c.797G>A (p.Cys266Tyr)
NM_005458.8(GABBR2):c.80T>C (p.Leu27Pro) rs1588292075
NM_005458.8(GABBR2):c.818A>G (p.Tyr273Cys)
NM_005458.8(GABBR2):c.821G>C (p.Gly274Ala)
NM_005458.8(GABBR2):c.824G>A (p.Ser275Asn)
NM_005458.8(GABBR2):c.845C>T (p.Pro282Leu) rs1826722249
NM_005458.8(GABBR2):c.847G>C (p.Gly283Arg)
NM_005458.8(GABBR2):c.853T>C (p.Tyr285His)
NM_005458.8(GABBR2):c.859C>A (p.Pro287Thr) rs1826721917
NM_005458.8(GABBR2):c.860C>T (p.Pro287Leu) rs2131631023
NM_005458.8(GABBR2):c.875A>T (p.Gln292Leu)
NM_005458.8(GABBR2):c.890C>G (p.Ala297Gly) rs1329465359
NM_005458.8(GABBR2):c.89C>A (p.Pro30Gln) rs1830935399
NM_005458.8(GABBR2):c.89_91dup (p.Pro30_Leu31insPro)
NM_005458.8(GABBR2):c.902G>T (p.Arg301Leu)
NM_005458.8(GABBR2):c.90_101dup (p.Leu35_Ala36insLeuLeuProLeu)
NM_005458.8(GABBR2):c.911G>C (p.Arg304Pro)
NM_005458.8(GABBR2):c.916A>T (p.Asn306Tyr)
NM_005458.8(GABBR2):c.920T>G (p.Leu307Arg)
NM_005458.8(GABBR2):c.92TGC[4] (p.Leu33_Pro34insLeu)
NM_005458.8(GABBR2):c.954_959del (p.Asp318_Phe319del) rs1554709553
NM_005458.8(GABBR2):c.967A>T (p.Ser323Cys)
NM_005458.8(GABBR2):c.977A>G (p.Gln326Arg)
NM_005458.8(GABBR2):c.999+3C>T
NM_005458.8(GABBR2):c.999G>C (p.Lys333Asn)

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.