ClinVar Miner

List of variants reported as likely benign for congenital myasthenic syndrome

Included ClinVar conditions (53):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4758
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HGVS dbSNP gnomAD frequency
NM_000334.4(SCN4A):c.968C>T (p.Thr323Met) rs80338952 0.01562
NM_002334.4(LRP4):c.431-12G>A rs139371503 0.01289
NM_173660.5(DOK7):c.782G>A (p.Arg261His) rs16844460 0.01070
NM_000334.4(SCN4A):c.2717G>C (p.Ser906Thr) rs41280102 0.01003
NM_005677.4(COLQ):c.291G>A (p.Ser97=) rs115201284 0.00908
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile) rs62070884 0.00873
NM_001382.4(DPAGT1):c.918-18G>A rs145206990 0.00859
NM_198576.4(AGRN):c.738C>T (p.Asp246=) rs536085218 0.00811
NM_005055.5(RAPSN):c.-72C>T rs117947983 0.00803
NM_198576.4(AGRN):c.3964C>T (p.Arg1322Trp) rs184970403 0.00799
NM_000334.4(SCN4A):c.1606+20G>A rs73326363 0.00787
NM_005592.4(MUSK):c.1991A>G (p.Asn664Ser) rs55963442 0.00777
NM_000334.4(SCN4A):c.3720+9G>T rs9303466 0.00769
NM_144988.4(ALG14):c.31G>A (p.Ala11Thr) rs34364382 0.00753
NM_198576.4(AGRN):c.1603+19G>A rs115191992 0.00697
NM_000079.4(CHRNA1):c.*218C>T rs79539026 0.00579
NM_198576.4(AGRN):c.5025C>T (p.Gly1675=) rs147990356 0.00536
NM_000080.4(CHRNE):c.*6A>G rs55806270 0.00487
NM_198576.4(AGRN):c.4352C>T (p.Pro1451Leu) rs144620006 0.00426
NM_001244710.2(GFPT1):c.*6003G>T rs143649075 0.00416
NM_000079.4(CHRNA1):c.643G>A (p.Asp215Asn) rs148304857 0.00413
NM_000747.3(CHRNB1):c.1045-6C>G rs79209506 0.00404
NM_173660.5(DOK7):c.54+19C>T rs757053604 0.00400
NM_005592.4(MUSK):c.398T>C (p.Ile133Thr) rs55980069 0.00399
NM_020549.5(CHAT):c.745C>G (p.Leu249Val) rs115510708 0.00392
NM_001244710.2(GFPT1):c.*867G>A rs72905155 0.00389
NM_001244710.2(GFPT1):c.*2364C>T rs182934478 0.00379
NM_001244710.2(GFPT1):c.*2916A>G rs114138715 0.00379
NM_000334.4(SCN4A):c.2645C>A (p.Pro882Gln) rs111858905 0.00367
NM_000334.4(SCN4A):c.5190C>T (p.Cys1730=) rs113277954 0.00347
NM_000334.4(SCN4A):c.1796A>G (p.His599Arg) rs187401185 0.00343
NM_005592.4(MUSK):c.320G>A (p.Gly107Glu) rs55786136 0.00337
NM_001244710.2(GFPT1):c.*2428G>A rs191588030 0.00321
NM_001244710.2(GFPT1):c.*1053G>A rs535434783 0.00308
NM_000751.3(CHRND):c.1105C>T (p.Pro369Ser) rs2229194 0.00305
NM_005592.4(MUSK):c.80-8C>T rs199705752 0.00301
NM_020549.5(CHAT):c.1135G>C (p.Asp379His) rs115212829 0.00296
NM_000080.4(CHRNE):c.1220-5G>A rs188564977 0.00287
NM_198576.4(AGRN):c.4639G>A (p.Glu1547Lys) rs2799068 0.00284
NM_000747.3(CHRNB1):c.-13G>C rs199903026 0.00278
NM_000080.4(CHRNE):c.918-6C>G rs141408756 0.00277
NM_033087.4(ALG2):c.349-17A>G rs193069827 0.00275
NM_005592.4(MUSK):c.1062G>A (p.Thr354=) rs139945437 0.00271
NM_198576.4(AGRN):c.5095C>T (p.Arg1699Cys) rs148518738 0.00268
NM_198576.4(AGRN):c.800C>T (p.Thr267Met) rs566673314 0.00265
NM_198576.4(AGRN):c.3533G>A (p.Arg1178Gln) rs148430436 0.00264
NM_005592.4(MUSK):c.1931T>C (p.Val644Ala) rs41279055 0.00255
NM_144988.4(ALG14):c.113G>T (p.Ser38Ile) rs139521179 0.00255
NM_005677.4(COLQ):c.789G>A (p.Pro263=) rs150061580 0.00251
NM_001244710.2(GFPT1):c.*4944A>G rs112572296 0.00246
NM_002334.4(LRP4):c.5357T>A (p.Met1786Lys) rs61748876 0.00246
NM_173660.5(DOK7):c.332-69_332-18del rs1560212382 0.00242
NM_000080.4(CHRNE):c.1076C>T (p.Pro359Leu) rs192195094 0.00240
NM_000751.3(CHRND):c.862C>G (p.Gln288Glu) rs41265127 0.00239
NM_000334.4(SCN4A):c.*1828A>G rs79003915 0.00233
NM_000334.4(SCN4A):c.355G>A (p.Val119Ile) rs41280110 0.00232
NM_173660.5(DOK7):c.178G>A (p.Glu60Lys) rs199980106 0.00227
NM_198576.4(AGRN):c.4131C>T (p.Phe1377=) rs368555478 0.00225
NM_000079.4(CHRNA1):c.655C>T (p.Leu219=) rs150638770 0.00220
NM_002334.4(LRP4):c.1048+7G>T rs148557097 0.00220
NM_001171613.2(PREPL):c.1595A>G (p.Lys532Arg) rs111438719 0.00218
NM_005592.4(MUSK):c.2202C>T (p.Gly734=) rs143701488 0.00217
NM_198576.4(AGRN):c.1394C>T (p.Pro465Leu) rs116586548 0.00216
NM_002334.4(LRP4):c.1787A>G (p.His596Arg) rs138878258 0.00211
NM_001244710.2(GFPT1):c.*4274A>T rs142243075 0.00210
NM_000334.4(SCN4A):c.1453-4A>G rs111818485 0.00209
NM_198576.4(AGRN):c.494C>T (p.Pro165Leu) rs140954236 0.00204
NM_198576.4(AGRN):c.2690C>T (p.Ala897Val) rs116836855 0.00203
NM_173660.5(DOK7):c.812G>C (p.Ser271Thr) rs144592743 0.00202
NM_000080.4(CHRNE):c.1425C>T (p.Leu475=) rs151193377 0.00197
NM_198576.4(AGRN):c.3719C>T (p.Pro1240Leu) rs142620337 0.00191
NM_020549.5(CHAT):c.1248C>T (p.Asn416=) rs116071049 0.00187
NM_001171613.2(PREPL):c.940A>T (p.Asn314Tyr) rs140990611 0.00186
NM_000751.3(CHRND):c.1530C>T (p.Asn510=) rs114463490 0.00175
NM_002334.4(LRP4):c.1915+6C>T rs184555624 0.00175
NM_001382.4(DPAGT1):c.994T>G (p.Phe332Val) rs138544311 0.00172
NM_198576.4(AGRN):c.4116C>T (p.Ala1372=) rs200170414 0.00170
NM_198576.4(AGRN):c.4879+17T>A rs535286672 0.00170
NM_198576.4(AGRN):c.5647G>A (p.Glu1883Lys) rs139415524 0.00167
NM_198576.4(AGRN):c.2155G>A (p.Gly719Ser) rs149594498 0.00158
NM_000334.4(SCN4A):c.3774+7C>T rs199659791 0.00149
NM_000751.3(CHRND):c.*365C>A rs112940737 0.00145
NM_198576.4(AGRN):c.3926G>A (p.Arg1309Gln) rs199680125 0.00143
NM_000747.3(CHRNB1):c.243+14A>G rs376387886 0.00138
NM_005055.5(RAPSN):c.821G>A (p.Ser274Asn) rs140996453 0.00138
NM_173660.5(DOK7):c.1480G>A (p.Val494Ile) rs202073484 0.00135
NM_173660.5(DOK7):c.1008G>A (p.Ser336=) rs185050737 0.00131
NM_020549.5(CHAT):c.2177C>T (p.Pro726Leu) rs79414242 0.00129
NM_005592.4(MUSK):c.486+7G>C rs187497836 0.00128
NM_198576.4(AGRN):c.752T>C (p.Val251Ala) rs779170859 0.00125
NM_002334.4(LRP4):c.639C>T (p.Asp213=) rs144974139 0.00124
NM_005677.4(COLQ):c.106+6T>C rs201376373 0.00119
NM_198576.4(AGRN):c.1570C>T (p.Arg524Trp) rs144164397 0.00119
NM_021815.5(SLC5A7):c.46C>T (p.Leu16Phe) rs143876748 0.00118
NM_173660.5(DOK7):c.1507C>A (p.Pro503Thr) rs184556570 0.00117
NM_198576.4(AGRN):c.4694A>G (p.Gln1565Arg) rs201818235 0.00117
NM_005592.4(MUSK):c.665A>G (p.Asn222Ser) rs55826142 0.00116
NM_005055.5(RAPSN):c.474C>T (p.Asp158=) rs56245238 0.00114
NM_002334.4(LRP4):c.5660C>G (p.Ser1887Cys) rs149082597 0.00111
NM_002334.4(LRP4):c.430+15C>T rs199835230 0.00108
NM_173660.5(DOK7):c.332-43_332-18del rs781466203 0.00108
NM_198576.4(AGRN):c.1178-7G>A rs200932219 0.00106
NM_198576.4(AGRN):c.5370+11G>A rs373058941 0.00104
NM_198576.4(AGRN):c.1188G>A (p.Pro396=) rs138841641 0.00103
NM_173660.5(DOK7):c.641C>T (p.Pro214Leu) rs147760280 0.00102
NM_002334.4(LRP4):c.3064A>G (p.Asn1022Asp) rs61742871 0.00098
NM_173660.5(DOK7):c.331+9C>T rs370879328 0.00098
NM_173660.5(DOK7):c.816C>G (p.His272Gln) rs115614731 0.00098
NM_021815.5(SLC5A7):c.1237G>A (p.Val413Ile) rs138945146 0.00096
NM_198576.4(AGRN):c.2501G>A (p.Arg834Gln) rs146243145 0.00094
NM_001244710.2(GFPT1):c.1882G>A (p.Val628Ile) rs190072721 0.00093
NM_198576.4(AGRN):c.2681-4C>T rs186518388 0.00092
NM_144988.4(ALG14):c.40G>A (p.Val14Met) rs11165298 0.00091
NM_000080.4(CHRNE):c.*858G>C rs375660349 0.00090
NM_001171613.2(PREPL):c.-49+1740C>A rs145322905 0.00089
NM_001244710.2(GFPT1):c.7+20G>T rs373299682 0.00088
NM_002334.4(LRP4):c.3620A>G (p.Asn1207Ser) rs151234321 0.00086
NM_020549.5(CHAT):c.665G>C (p.Arg222Pro) rs8178989 0.00086
NM_002334.4(LRP4):c.257G>A (p.Arg86His) rs138239756 0.00083
NM_198576.4(AGRN):c.5877-17C>A rs199552967 0.00083
NM_020549.5(CHAT):c.1069G>A (p.Gly357Arg) rs61731735 0.00082
NM_005677.4(COLQ):c.72G>A (p.Pro24=) rs111339593 0.00080
NM_002334.4(LRP4):c.4951+13G>C rs367744491 0.00079
NM_198576.4(AGRN):c.2266G>A (p.Ala756Thr) rs140764403 0.00079
NM_198576.4(AGRN):c.624T>C (p.Pro208=) rs371764695 0.00079
NM_002334.4(LRP4):c.1005C>T (p.Asn335=) rs141757569 0.00077
NM_002334.4(LRP4):c.2868G>A (p.Glu956=) rs145460760 0.00076
NM_002334.4(LRP4):c.387C>T (p.Cys129=) rs80333596 0.00076
NM_198576.4(AGRN):c.5564-11C>T rs191736727 0.00076
NM_002334.4(LRP4):c.5520T>C (p.His1840=) rs144350829 0.00075
NM_198576.4(AGRN):c.5643G>A (p.Val1881=) rs142242736 0.00074
NM_001382.4(DPAGT1):c.918-4G>A rs201656540 0.00073
NM_005592.4(MUSK):c.1779-7C>T rs114362384 0.00072
NM_001171613.2(PREPL):c.917T>C (p.Met306Thr) rs150182073 0.00071
NM_001171613.2(PREPL):c.68A>G (p.Asn23Ser) rs138377728 0.00070
NM_173660.5(DOK7):c.1171G>A (p.Gly391Arg) rs144158112 0.00068
NM_005055.5(RAPSN):c.1190G>A (p.Arg397Gln) rs139398367 0.00067
NM_005055.5(RAPSN):c.412G>A (p.Val138Ile) rs35810986 0.00065
NM_005592.4(MUSK):c.1719T>C (p.Asn573=) rs373118888 0.00064
NM_002334.4(LRP4):c.4807A>G (p.Ile1603Val) rs147688807 0.00063
NM_033087.4(ALG2):c.348+6G>A rs368075764 0.00063
NM_173660.5(DOK7):c.202G>A (p.Gly68Ser) rs376509451 0.00063
NM_001382.4(DPAGT1):c.330C>T (p.Phe110=) rs199994118 0.00061
NM_198576.4(AGRN):c.4272G>A (p.Ala1424=) rs201470321 0.00061
NM_002334.4(LRP4):c.3390G>A (p.Ala1130=) rs144639401 0.00060
NM_002334.4(LRP4):c.677-14T>C rs373597511 0.00059
NM_144988.4(ALG14):c.552C>T (p.Ser184=) rs148202016 0.00059
NM_002334.4(LRP4):c.1194A>G (p.Glu398=) rs138589242 0.00058
NM_000747.3(CHRNB1):c.1424T>C (p.Phe475Ser) rs148533702 0.00056
NM_020549.5(CHAT):c.1174G>A (p.Ala392Thr) rs115877658 0.00056
NM_033087.4(ALG2):c.475A>G (p.Ile159Val) rs146770430 0.00055
NM_002334.4(LRP4):c.676+13G>A rs200963011 0.00052
NM_001171613.2(PREPL):c.967A>G (p.Ile323Val) rs143785426 0.00051
NM_005677.4(COLQ):c.167C>T (p.Pro56Leu) rs768517440 0.00051
NM_000747.3(CHRNB1):c.1268C>A (p.Pro423Gln) rs138920330 0.00049
NM_001171613.2(PREPL):c.444T>C (p.Asp148=) rs149836496 0.00049
NM_005592.4(MUSK):c.2393A>G (p.Tyr798Cys) rs188840021 0.00049
NM_198576.4(AGRN):c.4734C>T (p.Pro1578=) rs186574226 0.00049
NM_033087.4(ALG2):c.216G>T (p.Gly72=) rs531748488 0.00048
NM_000080.4(CHRNE):c.901G>A (p.Val301Met) rs140023380 0.00046
NM_005055.5(RAPSN):c.492C>T (p.Arg164=) rs146237774 0.00046
NM_021815.5(SLC5A7):c.1113+9A>G rs192964655 0.00046
NM_173660.5(DOK7):c.296C>T (p.Ala99Val) rs138010842 0.00046
NM_005055.5(RAPSN):c.1166+16G>A rs377580268 0.00045
NM_173660.5(DOK7):c.1258C>G (p.Pro420Ala) rs150497723 0.00045
NM_000334.4(SCN4A):c.2697G>A (p.Leu899=) rs199827271 0.00044
NM_005592.4(MUSK):c.1025C>T (p.Ala342Val) rs375762569 0.00044
NM_000080.4(CHRNE):c.1245C>T (p.Ala415=) rs202051373 0.00043
NM_000747.3(CHRNB1):c.132A>G (p.Pro44=) rs35872101 0.00043
NM_005592.4(MUSK):c.1057C>A (p.His353Asn) rs201791900 0.00043
NM_002334.4(LRP4):c.3944C>T (p.Ser1315Leu) rs150681693 0.00042
NM_000747.3(CHRNB1):c.1359C>T (p.His453=) rs142053338 0.00041
NM_130811.4(SNAP25):c.6C>T (p.Ala2=) rs11547858 0.00040
NM_005592.4(MUSK):c.1928-4C>A rs375406874 0.00038
NM_198576.4(AGRN):c.5735C>T (p.Ala1912Val) rs141178720 0.00038
NM_020549.5(CHAT):c.1883G>A (p.Arg628Gln) rs114545628 0.00037
NM_173660.5(DOK7):c.332-5C>T rs375468951 0.00037
NM_020549.5(CHAT):c.1087G>A (p.Glu363Lys) rs75262191 0.00036
NM_173660.5(DOK7):c.972G>A (p.Pro324=) rs373041663 0.00036
NM_005592.4(MUSK):c.2082C>A (p.Pro694=) rs201616041 0.00035
NM_198576.4(AGRN):c.2028T>A (p.Ser676=) rs144713799 0.00035
NM_198576.4(AGRN):c.5337C>T (p.Ala1779=) rs141463750 0.00035
NM_001382.4(DPAGT1):c.243C>T (p.Cys81=) rs138519099 0.00034
NM_005592.4(MUSK):c.300G>A (p.Thr100=) rs180928221 0.00034
NM_005677.4(COLQ):c.561C>T (p.Ser187=) rs149370622 0.00034
NM_020549.5(CHAT):c.2222G>A (p.Arg741Lys) rs114719193 0.00034
NM_198576.4(AGRN):c.2270C>T (p.Pro757Leu) rs202172924 0.00034
NM_198576.4(AGRN):c.3936C>T (p.Thr1312=) rs775175131 0.00034
NM_198576.4(AGRN):c.5536G>C (p.Gly1846Arg) rs199499080 0.00034
NM_033087.4(ALG2):c.167C>T (p.Pro56Leu) rs201959100 0.00033
NM_000080.4(CHRNE):c.46+20G>A rs368007857 0.00032
NM_000334.4(SCN4A):c.1607-17T>C rs202103551 0.00032
NM_000747.3(CHRNB1):c.1126T>C (p.Cys376Arg) rs150290595 0.00032
NM_000751.3(CHRND):c.*676G>A rs183259359 0.00032
NM_001171613.2(PREPL):c.1135G>C (p.Asp379His) rs140165185 0.00032
NM_001171613.2(PREPL):c.516C>T (p.Asp172=) rs138620283 0.00032
NM_001171613.2(PREPL):c.594C>T (p.Asp198=) rs373041097 0.00032
NM_005592.4(MUSK):c.2573G>A (p.Arg858His) rs34115159 0.00032
NM_005592.4(MUSK):c.486G>C (p.Arg162Ser) rs200750233 0.00032
NM_173660.5(DOK7):c.313C>T (p.Arg105Cys) rs115883468 0.00032
NM_198576.4(AGRN):c.1198C>T (p.Arg400Trp) rs149636063 0.00032
NM_198576.4(AGRN):c.2277G>A (p.Pro759=) rs199985558 0.00032
NM_000080.4(CHRNE):c.66C>T (p.Asn22=) rs55770091 0.00031
NM_002334.4(LRP4):c.3004+19G>T rs376749778 0.00031
NM_002334.4(LRP4):c.4536A>T (p.Thr1512=) rs144169411 0.00031
NM_173660.5(DOK7):c.975G>A (p.Arg325=) rs370661591 0.00031
NM_198576.4(AGRN):c.2796C>T (p.Asn932=) rs147153797 0.00031
NM_000080.4(CHRNE):c.1321G>A (p.Gly441Ser) rs375221757 0.00030
NM_002334.4(LRP4):c.2815-6T>G rs372210790 0.00030
NM_173660.5(DOK7):c.567G>A (p.Gly189=) rs141808910 0.00030
NM_005592.4(MUSK):c.1951A>C (p.Met651Leu) rs199811263 0.00029
NM_005592.4(MUSK):c.2200G>A (p.Gly734Ser) rs376635652 0.00029
NM_005592.4(MUSK):c.500T>C (p.Ile167Thr) rs202045225 0.00029
NM_198576.4(AGRN):c.3517-6C>T rs369941113 0.00029
NM_198576.4(AGRN):c.4881C>T (p.Ala1627=) rs144586153 0.00029
NM_001244710.2(GFPT1):c.99A>G (p.Arg33=) rs146463758 0.00028
NM_005055.5(RAPSN):c.816C>T (p.Ala272=) rs779303374 0.00028
NM_005055.5(RAPSN):c.903G>A (p.Ala301=) rs56040810 0.00028
NM_198576.4(AGRN):c.1209C>T (p.Ala403=) rs368625531 0.00028
NM_001171613.2(PREPL):c.-49+1883G>T rs199854790 0.00027
NM_020549.5(CHAT):c.1716G>A (p.Ser572=) rs374000183 0.00027
NM_020549.5(CHAT):c.1894C>T (p.Arg632Trp) rs141127966 0.00027
NM_173660.5(DOK7):c.208C>A (p.Pro70Thr) rs539190403 0.00027
NM_173660.5(DOK7):c.839G>A (p.Arg280Gln) rs144269117 0.00027
NM_198576.4(AGRN):c.2337C>T (p.Thr779=) rs141886688 0.00027
NM_198576.4(AGRN):c.2563G>A (p.Val855Met) rs200684031 0.00027
NM_198576.4(AGRN):c.4976+4G>A rs565518558 0.00027
NM_000080.4(CHRNE):c.23T>C (p.Val8Ala) rs199807050 0.00026
NM_001244710.2(GFPT1):c.408+19A>G rs201470680 0.00026
NM_005677.4(COLQ):c.300C>T (p.Ser100=) rs2305611 0.00026
NM_020549.5(CHAT):c.2178G>A (p.Pro726=) rs77144546 0.00026
NM_173660.5(DOK7):c.1205G>A (p.Arg402Gln) rs370039804 0.00026
NM_198576.4(AGRN):c.3720G>A (p.Pro1240=) rs550897417 0.00026
NM_002334.4(LRP4):c.273C>T (p.Asp91=) rs150401820 0.00025
NM_005592.4(MUSK):c.2331C>T (p.Asn777=) rs56394142 0.00025
NM_130811.4(SNAP25):c.534C>T (p.Ile178=) rs200030321 0.00025
NM_198576.4(AGRN):c.2601G>A (p.Ser867=) rs144794590 0.00025
NM_000334.4(SCN4A):c.1101-16C>T rs376459843 0.00024
NM_000747.3(CHRNB1):c.593A>G (p.His198Arg) rs76251791 0.00024
NM_002334.4(LRP4):c.1059G>A (p.Thr353=) rs144710408 0.00024
NM_005055.5(RAPSN):c.776G>A (p.Arg259His) rs766051613 0.00024
NM_020549.5(CHAT):c.858C>T (p.Thr286=) rs200423662 0.00024
NM_021815.5(SLC5A7):c.1299T>C (p.Tyr433=) rs144772225 0.00024
NM_173660.5(DOK7):c.54+23_54+24insA rs759348603 0.00024
NM_173660.5(DOK7):c.668G>A (p.Gly223Glu) rs146895834 0.00024
NM_020549.5(CHAT):c.1955G>A (p.Arg652Gln) rs116628504 0.00023
NM_020549.5(CHAT):c.754C>T (p.His252Tyr) rs376994468 0.00023
NM_021815.5(SLC5A7):c.293-18C>G rs200631097 0.00023
NM_198576.4(AGRN):c.1187C>T (p.Pro396Leu) rs374230348 0.00023
NM_001171613.2(PREPL):c.750A>G (p.Leu250=) rs146874807 0.00022
NM_001244710.2(GFPT1):c.*3134A>G rs79748218 0.00022
NM_002334.4(LRP4):c.378G>A (p.Leu126=) rs201749120 0.00022
NM_005592.4(MUSK):c.1743C>A (p.Ile581=) rs756096336 0.00022
NM_005592.4(MUSK):c.549A>G (p.Glu183=) rs369254308 0.00022
NM_173660.5(DOK7):c.1279G>A (p.Gly427Ser) rs377555406 0.00022
NM_173660.5(DOK7):c.282C>T (p.His94=) rs377025553 0.00022
NM_173660.5(DOK7):c.846C>T (p.Thr282=) rs141147662 0.00022
NM_000334.4(SCN4A):c.1430A>G (p.Lys477Arg) rs182691342 0.00021
NM_000334.4(SCN4A):c.2649C>T (p.Pro883=) rs368024629 0.00021
NM_001171613.2(PREPL):c.1629+12C>T rs371909871 0.00021
NM_001171613.2(PREPL):c.1791T>C (p.Pro597=) rs189954086 0.00021
NM_001244710.2(GFPT1):c.1629C>T (p.Asp543=) rs369055649 0.00021
NM_001244710.2(GFPT1):c.223+5C>T rs200631666 0.00021
NM_001382.4(DPAGT1):c.250A>C (p.Lys84Gln) rs112355069 0.00021
NM_002334.4(LRP4):c.3384G>A (p.Gly1128=) rs144335505 0.00021
NM_002334.4(LRP4):c.4923C>T (p.Asp1641=) rs150734530 0.00021
NM_005677.4(COLQ):c.1081C>T (p.Pro361Ser) rs116828761 0.00021
NM_005677.4(COLQ):c.1161C>T (p.Asp387=) rs539100854 0.00021
NM_020549.5(CHAT):c.1173C>T (p.Asp391=) rs141690626 0.00021
NM_173660.5(DOK7):c.665C>T (p.Pro222Leu) rs141141719 0.00021
NM_198576.4(AGRN):c.5775C>T (p.Asp1925=) rs375797607 0.00021
NM_000747.3(CHRNB1):c.753C>T (p.Asn251=) rs142067673 0.00020
NM_002334.4(LRP4):c.1491C>T (p.Leu497=) rs146501212 0.00020
NM_198576.4(AGRN):c.2271G>A (p.Pro757=) rs150123719 0.00020
NM_000080.4(CHRNE):c.1169G>C (p.Arg390Pro) rs568952207 0.00019
NM_000080.4(CHRNE):c.556G>A (p.Gly186Ser) rs764960076 0.00019
NM_000334.4(SCN4A):c.5037C>T (p.Ile1679=) rs372002602 0.00019
NM_000747.3(CHRNB1):c.564C>T (p.Asp188=) rs77592498 0.00019
NM_001171613.2(PREPL):c.1629+14A>G rs748376274 0.00019
NM_005055.5(RAPSN):c.1203C>T (p.Asn401=) rs757215612 0.00019
NM_173660.5(DOK7):c.1007C>T (p.Ser336Leu) rs377757018 0.00019
NM_173660.5(DOK7):c.1320C>T (p.Ala440=) rs368868378 0.00019
NM_198576.4(AGRN):c.1238G>A (p.Arg413His) rs201280723 0.00019
NM_198576.4(AGRN):c.2610C>T (p.Pro870=) rs371615464 0.00019
NM_198576.4(AGRN):c.3801G>A (p.Ala1267=) rs148483856 0.00019
NM_198576.4(AGRN):c.4298+9G>A rs774692884 0.00019
NM_198576.4(AGRN):c.519G>C (p.Arg173=) rs756710837 0.00019
NM_198576.4(AGRN):c.840C>G (p.Pro280=) rs956784907 0.00019
NM_000747.3(CHRNB1):c.720C>T (p.Ile240=) rs147607553 0.00018
NM_001171613.2(PREPL):c.1086+8T>G rs374029150 0.00018
NM_002334.4(LRP4):c.1654A>T (p.Asn552Tyr) rs201253200 0.00018
NM_002334.4(LRP4):c.3753G>A (p.Pro1251=) rs140010759 0.00018
NM_173660.5(DOK7):c.54+31G>T rs762404326 0.00018
NM_198576.4(AGRN):c.1107C>T (p.Val369=) rs369413947 0.00018
NM_000080.4(CHRNE):c.1458C>T (p.Pro486=) rs768977197 0.00017
NM_000334.4(SCN4A):c.3318+20C>G rs368263593 0.00017
NM_000747.3(CHRNB1):c.725G>A (p.Arg242His) rs79220301 0.00017
NM_002334.4(LRP4):c.1310-9G>C rs200509094 0.00017
NM_198576.4(AGRN):c.3732C>T (p.His1244=) rs536657086 0.00017
NM_000080.4(CHRNE):c.797C>T (p.Ala266Val) rs201463598 0.00016
NM_001171613.2(PREPL):c.1480-6T>C rs756590077 0.00016
NM_005055.5(RAPSN):c.1041G>A (p.Ala347=) rs149683345 0.00016
NM_005677.4(COLQ):c.321+17G>A rs769285800 0.00016
NM_020549.5(CHAT):c.1511+13G>A rs561823003 0.00016
NM_020549.5(CHAT):c.2212A>G (p.Lys738Glu) rs142285373 0.00016
NM_021815.5(SLC5A7):c.486C>T (p.His162=) rs369362436 0.00016
NM_173660.5(DOK7):c.1352G>A (p.Arg451Gln) rs200675356 0.00016
NM_173660.5(DOK7):c.772+14C>G rs201023802 0.00016
NM_173660.5(DOK7):c.957C>G (p.Pro319=) rs777573281 0.00016
NM_198576.4(AGRN):c.1461G>A (p.Ala487=) rs369442516 0.00016
NM_198576.4(AGRN):c.1890C>T (p.Pro630=) rs779308593 0.00016
NM_198576.4(AGRN):c.3132G>A (p.Thr1044=) rs747633469 0.00016
NM_198576.4(AGRN):c.384C>G (p.His128Gln) rs768527925 0.00016
NM_198576.4(AGRN):c.5052G>A (p.Thr1684=) rs150178666 0.00016
NM_198576.4(AGRN):c.511+18C>T rs372583504 0.00016
NM_198576.4(AGRN):c.5817G>A (p.Val1939=) rs371378860 0.00016
NM_001171613.2(PREPL):c.453T>C (p.Arg151=) rs368239846 0.00015
NM_001171613.2(PREPL):c.485+13T>C rs13395913 0.00015
NM_002334.4(LRP4):c.3429G>A (p.Thr1143=) rs137882536 0.00015
NM_002334.4(LRP4):c.636C>T (p.Gly212=) rs17848239 0.00015
NM_005592.4(MUSK):c.2484C>T (p.Pro828=) rs779401827 0.00015
NM_020549.5(CHAT):c.1111+7C>T rs767946637 0.00015
NM_144988.4(ALG14):c.354C>T (p.Thr118=) rs372809921 0.00015
NM_198576.4(AGRN):c.125A>C (p.Glu42Ala) rs757604648 0.00015
NM_198576.4(AGRN):c.4605G>T (p.Gly1535=) rs373097825 0.00015
NM_198576.4(AGRN):c.5247G>A (p.Glu1749=) rs367587156 0.00015
NM_198576.4(AGRN):c.5501C>T (p.Pro1834Leu) rs145116277 0.00015
NM_000747.3(CHRNB1):c.1217+9A>G rs145242880 0.00014
NM_000747.3(CHRNB1):c.1218-7C>T rs779852242 0.00014
NM_001171613.2(PREPL):c.1221C>T (p.Val407=) rs749676469 0.00014
NM_001382.4(DPAGT1):c.728+9G>A rs369353136 0.00014
NM_002334.4(LRP4):c.4584-4G>A rs368518969 0.00014
NM_002334.4(LRP4):c.4584-5C>T rs183295145 0.00014
NM_005055.5(RAPSN):c.225G>A (p.Glu75=) rs147923114 0.00014
NM_005592.4(MUSK):c.1885C>T (p.Leu629Phe) rs34267283 0.00014
NM_005592.4(MUSK):c.206+10C>T rs371617202 0.00014
NM_005592.4(MUSK):c.776A>G (p.Glu259Gly) rs370071178 0.00014
NM_020549.5(CHAT):c.1038T>C (p.Arg346=) rs367961073 0.00014
NM_020549.5(CHAT):c.494T>C (p.Ile165Thr) rs148155075 0.00014
NM_173660.5(DOK7):c.1233T>C (p.Leu411=) rs539706052 0.00014
NM_198576.4(AGRN):c.1395G>A (p.Pro465=) rs367601178 0.00014
NM_198576.4(AGRN):c.1470C>T (p.Cys490=) rs372048253 0.00014
NM_198576.4(AGRN):c.2681-10C>T rs368080332 0.00014
NM_198576.4(AGRN):c.2997C>A (p.Ala999=) rs141061406 0.00014
NM_198576.4(AGRN):c.3003C>T (p.Pro1001=) rs375208869 0.00014
NM_198576.4(AGRN):c.4055G>A (p.Gly1352Asp) rs200612540 0.00014
NM_000747.3(CHRNB1):c.305G>C (p.Arg102Pro) rs201915086 0.00013
NM_001171613.2(PREPL):c.1906C>T (p.Leu636=) rs147585967 0.00013
NM_001171613.2(PREPL):c.702+17G>A rs375710277 0.00013
NM_001244710.2(GFPT1):c.1483-11T>G rs147573852 0.00013
NM_005592.4(MUSK):c.1806T>G (p.Pro602=) rs374078491 0.00013
NM_198576.4(AGRN):c.1020T>C (p.Pro340=) rs779277410 0.00013
NM_198576.4(AGRN):c.1929C>T (p.Cys643=) rs371304780 0.00013
NM_198576.4(AGRN):c.4073C>T (p.Pro1358Leu) rs755205199 0.00013
NM_198576.4(AGRN):c.4518G>A (p.Ala1506=) rs376592885 0.00013
NM_000747.3(CHRNB1):c.6C>T (p.Thr2=) rs755368307 0.00012
NM_001171613.2(PREPL):c.1155C>G (p.Leu385=) rs149866553 0.00012
NM_002334.4(LRP4):c.2436T>C (p.Asp812=) rs201159730 0.00012
NM_002334.4(LRP4):c.447C>T (p.Ser149=) rs763246909 0.00012
NM_020549.5(CHAT):c.867G>A (p.Thr289=) rs574542737 0.00012
NM_198576.4(AGRN):c.1557C>T (p.Ala519=) rs146185843 0.00012
NM_198576.4(AGRN):c.2100C>T (p.Asp700=) rs147021253 0.00012
NM_000080.4(CHRNE):c.699G>A (p.Ser233=) rs375146171 0.00011
NM_000334.4(SCN4A):c.1288A>G (p.Ile430Val) rs149907018 0.00011
NM_000747.3(CHRNB1):c.1224G>A (p.Gln408=) rs143027754 0.00011
NM_001171613.2(PREPL):c.-49+1808A>T rs145087654 0.00011
NM_001171613.2(PREPL):c.1164T>C (p.His388=) rs375606179 0.00011
NM_001171613.2(PREPL):c.393C>T (p.Thr131=) rs200491145 0.00011
NM_001171613.2(PREPL):c.833A>G (p.Asn278Ser) rs371862757 0.00011
NM_002334.4(LRP4):c.2763C>T (p.Asp921=) rs532977473 0.00011
NM_002334.4(LRP4):c.5178C>T (p.Tyr1726=) rs372105627 0.00011
NM_005592.4(MUSK):c.198T>C (p.Ile66=) rs567402281 0.00011
NM_005677.4(COLQ):c.107-9263G>C rs905126365 0.00011
NM_005677.4(COLQ):c.621A>C (p.Gly207=) rs138830715 0.00011
NM_020549.5(CHAT):c.1124G>A (p.Arg375Gln) rs201616704 0.00011
NM_020549.5(CHAT):c.1419C>T (p.Ser473=) rs200175587 0.00011
NM_021815.5(SLC5A7):c.178+18C>T rs372695865 0.00011
NM_021815.5(SLC5A7):c.619T>C (p.Leu207=) rs139476914 0.00011
NM_021815.5(SLC5A7):c.742-6G>A rs371989232 0.00011
NM_021815.5(SLC5A7):c.786C>G (p.Leu262=) rs190152555 0.00011
NM_173660.5(DOK7):c.1406C>A (p.Pro469His) rs147185207 0.00011
NM_173660.5(DOK7):c.1434C>T (p.Gly478=) rs781007084 0.00011
NM_173660.5(DOK7):c.82A>C (p.Lys28Gln) rs576215366 0.00011
NM_198576.4(AGRN):c.2400T>C (p.Ser800=) rs529944515 0.00011
NM_198576.4(AGRN):c.2537-15C>T rs143289619 0.00011
NM_198576.4(AGRN):c.2680+16C>T rs968487793 0.00011
NM_198576.4(AGRN):c.3327G>A (p.Ala1109=) rs370487662 0.00011
NM_198576.4(AGRN):c.3517-7del rs771963324 0.00011
NM_198576.4(AGRN):c.3654C>T (p.Asp1218=) rs746158196 0.00011
NM_198576.4(AGRN):c.4455C>T (p.Asp1485=) rs200690566 0.00011
NM_198576.4(AGRN):c.4767G>A (p.Lys1589=) rs376247667 0.00011
NM_198576.4(AGRN):c.5838C>T (p.Pro1946=) rs376329821 0.00011
NM_198576.4(AGRN):c.5925C>T (p.Thr1975=) rs376944871 0.00011
NM_198576.4(AGRN):c.728-19G>A rs759746835 0.00011
NM_000080.4(CHRNE):c.1033-14_1033-13insT rs886053124 0.00010
NM_000080.4(CHRNE):c.506A>T (p.Gln169Leu) rs148370803 0.00010
NM_000080.4(CHRNE):c.671G>A (p.Gly224Asp) rs141183965 0.00010
NM_000080.4(CHRNE):c.710G>T (p.Arg237Leu) rs201434993 0.00010
NM_000334.4(SCN4A):c.1607-20T>C rs374159735 0.00010
NM_001171613.2(PREPL):c.1467G>A (p.Ala489=) rs140525819 0.00010
NM_002334.4(LRP4):c.3267C>T (p.Asp1089=) rs150616375 0.00010
NM_002334.4(LRP4):c.4110C>T (p.Asp1370=) rs143496445 0.00010
NM_005055.5(RAPSN):c.1098C>T (p.Cys366=) rs139525851 0.00010
NM_005055.5(RAPSN):c.640G>A (p.Val214Met) rs201124957 0.00010
NM_005055.5(RAPSN):c.831C>T (p.Thr277=) rs148078235 0.00010
NM_005055.5(RAPSN):c.864G>A (p.Ala288=) rs147966227 0.00010
NM_020549.5(CHAT):c.119G>T (p.Gly40Val) rs776411377 0.00010
NM_020549.5(CHAT):c.1275C>A (p.Ser425=) rs767778694 0.00010
NM_020549.5(CHAT):c.435G>A (p.Thr145=) rs77296560 0.00010
NM_020549.5(CHAT):c.474G>A (p.Gln158=) rs143662656 0.00010
NM_020549.5(CHAT):c.580-9C>G rs371756448 0.00010
NM_020549.5(CHAT):c.651C>T (p.Ala217=) rs575515952 0.00010
NM_033087.4(ALG2):c.813C>T (p.Asp271=) rs551873509 0.00010
NM_033087.4(ALG2):c.948G>A (p.Thr316=) rs375746453 0.00010
NM_173660.5(DOK7):c.1470G>A (p.Ser490=) rs543344505 0.00010
NM_173660.5(DOK7):c.332-13C>T rs778628534 0.00010
NM_173660.5(DOK7):c.962C>T (p.Pro321Leu) rs560882592 0.00010
NM_198576.4(AGRN):c.1566C>T (p.Leu522=) rs375687903 0.00010
NM_198576.4(AGRN):c.3516+7C>T rs771959135 0.00010
NM_198576.4(AGRN):c.4516G>A (p.Ala1506Thr) rs200182409 0.00010
NM_000080.4(CHRNE):c.1047G>A (p.Leu349=) rs974390828 0.00009
NM_000080.4(CHRNE):c.1413C>T (p.Ser471=) rs372792059 0.00009
NM_000080.4(CHRNE):c.1462G>A (p.Ala488Thr) rs780592951 0.00009
NM_000080.4(CHRNE):c.465C>T (p.Phe155=) rs139625105 0.00009
NM_000080.4(CHRNE):c.768C>T (p.Gly256=) rs372509633 0.00009
NM_000334.4(SCN4A):c.1935C>T (p.Phe645=) rs181494727 0.00009
NM_000334.4(SCN4A):c.2130C>T (p.Ile710=) rs776552053 0.00009
NM_000334.4(SCN4A):c.2340C>T (p.Thr780=) rs375349902 0.00009
NM_000334.4(SCN4A):c.2421C>T (p.Ala807=) rs540328974 0.00009
NM_000747.3(CHRNB1):c.1045-11C>G rs375829198 0.00009
NM_000747.3(CHRNB1):c.1394T>C (p.Met465Thr) rs201776800 0.00009
NM_000747.3(CHRNB1):c.647G>A (p.Arg216Gln) rs200684767 0.00009
NM_000747.3(CHRNB1):c.754G>A (p.Val252Ile) rs751045224 0.00009
NM_001145536.2(C17orf107):c.*1565G>A rs756213541 0.00009
NM_001171613.2(PREPL):c.1059C>T (p.Arg353=) rs191502460 0.00009
NM_001171613.2(PREPL):c.1887C>T (p.Phe629=) rs368734097 0.00009
NM_001244710.2(GFPT1):c.*673A>G rs533310642 0.00009
NM_001244710.2(GFPT1):c.459C>T (p.Ala153=) rs775046657 0.00009
NM_002334.4(LRP4):c.1707C>T (p.Tyr569=) rs61748895 0.00009
NM_002334.4(LRP4):c.2112C>T (p.Asp704=) rs140757594 0.00009
NM_002334.4(LRP4):c.2216-14C>T rs369714698 0.00009
NM_002334.4(LRP4):c.3537-13C>A rs752687926 0.00009
NM_002334.4(LRP4):c.426G>A (p.Gln142=) rs371955690 0.00009
NM_002334.4(LRP4):c.4317C>T (p.Ala1439=) rs376909913 0.00009
NM_005055.5(RAPSN):c.1166+13G>C rs745720985 0.00009
NM_005592.4(MUSK):c.1689C>G (p.Pro563=) rs376052538 0.00009
NM_005677.4(COLQ):c.246C>T (p.Leu82=) rs372432709 0.00009
NM_005677.4(COLQ):c.654A>G (p.Lys218=) rs112673051 0.00009
NM_020549.5(CHAT):c.1494G>A (p.Ser498=) rs139722660 0.00009
NM_020549.5(CHAT):c.349C>T (p.Arg117Cys) rs200361897 0.00009
NM_020549.5(CHAT):c.699-5T>C rs1321871575 0.00009
NM_020549.5(CHAT):c.964C>T (p.Arg322Cys) rs147815999 0.00009
NM_021815.5(SLC5A7):c.1197G>A (p.Thr399=) rs141187628 0.00009
NM_021815.5(SLC5A7):c.759A>G (p.Pro253=) rs372145153 0.00009
NM_033087.4(ALG2):c.1038G>A (p.Ser346=) rs200138333 0.00009
NM_173660.5(DOK7):c.1144G>A (p.Glu382Lys) rs560463670 0.00009
NM_173660.5(DOK7):c.480C>T (p.Tyr160=) rs550024569 0.00009
NM_173660.5(DOK7):c.561C>T (p.Ala187=) rs140026458 0.00009
NM_173660.5(DOK7):c.597C>T (p.Ile199=) rs771302576 0.00009
NM_198576.4(AGRN):c.1305G>A (p.Thr435=) rs141694897 0.00009
NM_198576.4(AGRN):c.1449C>T (p.Asn483=) rs759844691 0.00009
NM_198576.4(AGRN):c.2007C>T (p.Cys669=) rs542999741 0.00009
NM_198576.4(AGRN):c.2667G>A (p.Ala889=) rs144205055 0.00009
NM_198576.4(AGRN):c.2993C>T (p.Pro998Leu) rs200807722 0.00009
NM_198576.4(AGRN):c.3033C>T (p.Thr1011=) rs377422616 0.00009
NM_198576.4(AGRN):c.3324C>T (p.Ser1108=) rs367614282 0.00009
NM_198576.4(AGRN):c.3752-5G>A rs201733530 0.00009
NM_198576.4(AGRN):c.4228C>T (p.Leu1410=) rs544008933 0.00009
NM_198576.4(AGRN):c.4488C>T (p.Gly1496=) rs748221306 0.00009
NM_198576.4(AGRN):c.657C>T (p.Asn219=) rs375812789 0.00009
NM_000079.4(CHRNA1):c.723C>T (p.Pro241=) rs189442556 0.00008
NM_000334.4(SCN4A):c.1845+12del rs756462178 0.00008
NM_000334.4(SCN4A):c.2685C>T (p.Asn895=) rs760183656 0.00008
NM_000334.4(SCN4A):c.4602G>A (p.Thr1534=) rs186181122 0.00008
NM_000747.3(CHRNB1):c.684G>A (p.Arg228=) rs765737031 0.00008
NM_000747.3(CHRNB1):c.687A>G (p.Glu229=) rs749893562 0.00008
NM_001145536.2(C17orf107):c.*1566G>A rs369060595 0.00008
NM_001171613.2(PREPL):c.1520C>A (p.Thr507Lys) rs773867044 0.00008
NM_001382.4(DPAGT1):c.717C>T (p.Leu239=) rs377263230 0.00008
NM_002334.4(LRP4):c.282C>T (p.Asn94=) rs17848224 0.00008
NM_005055.5(RAPSN):c.790-5T>C rs369823690 0.00008
NM_005592.4(MUSK):c.1778+13A>G rs371275445 0.00008
NM_005677.4(COLQ):c.367-20C>T rs371561543 0.00008
NM_020549.5(CHAT):c.1086C>T (p.Ala362=) rs374870408 0.00008
NM_020549.5(CHAT):c.1338T>C (p.Asp446=) rs777957584 0.00008
NM_020549.5(CHAT):c.326C>T (p.Thr109Met) rs542610160 0.00008
NM_020549.5(CHAT):c.678T>C (p.Pro226=) rs142740451 0.00008
NM_021815.5(SLC5A7):c.636C>T (p.Val212=) rs200804007 0.00008
NM_130811.4(SNAP25):c.366C>T (p.Asp122=) rs377498338 0.00008
NM_173660.5(DOK7):c.213C>T (p.Tyr71=) rs760236131 0.00008
NM_173660.5(DOK7):c.54+13C>T rs912327595 0.00008
NM_173660.5(DOK7):c.772+8C>T rs199769286 0.00008
NM_173660.5(DOK7):c.804A>G (p.Ser268=) rs781113489 0.00008
NM_198576.4(AGRN):c.102C>T (p.Arg34=) rs1033464887 0.00008
NM_198576.4(AGRN):c.1281C>T (p.Pro427=) rs767153644 0.00008
NM_198576.4(AGRN):c.1604-9C>T rs748417950 0.00008
NM_198576.4(AGRN):c.1999+18G>A rs375682905 0.00008
NM_198576.4(AGRN):c.2537-4A>C rs200243468 0.00008
NM_198576.4(AGRN):c.2829A>G (p.Thr943=) rs774682347 0.00008
NM_198576.4(AGRN):c.807G>A (p.Ser269=) rs746098476 0.00008
NM_000080.4(CHRNE):c.1278C>T (p.Ala426=) rs751593666 0.00007
NM_000080.4(CHRNE):c.1446G>A (p.Val482=) rs376713095 0.00007
NM_001171613.2(PREPL):c.1827+15C>T rs376714746 0.00007
NM_001244710.2(GFPT1):c.1483-8T>C rs569347921 0.00007
NM_001244710.2(GFPT1):c.739+6A>G rs542110221 0.00007
NM_002334.4(LRP4):c.660A>G (p.Ser220=) rs200129866 0.00007
NM_005055.5(RAPSN):c.1189C>T (p.Arg397Trp) rs201796294 0.00007
NM_005677.4(COLQ):c.159G>A (p.Leu53=) rs745419074 0.00007
NM_005677.4(COLQ):c.366+9C>T rs778157663 0.00007
NM_020549.5(CHAT):c.117G>C (p.Ser39=) rs768179285 0.00007
NM_020549.5(CHAT):c.1345G>A (p.Val449Ile) rs757733319 0.00007
NM_020549.5(CHAT):c.207C>T (p.Pro69=) rs1490764401 0.00007
NM_021815.5(SLC5A7):c.471C>T (p.Ile157=) rs904669194 0.00007
NM_021815.5(SLC5A7):c.54T>C (p.Ile18=) rs370177227 0.00007
NM_021815.5(SLC5A7):c.597+14C>A rs370808911 0.00007
NM_033087.4(ALG2):c.348+20G>C rs768131229 0.00007
NM_144988.4(ALG14):c.36A>G (p.Gly12=) rs368851775 0.00007
NM_173660.5(DOK7):c.297G>A (p.Ala99=) rs201351460 0.00007
NM_173660.5(DOK7):c.903A>C (p.Pro301=) rs145040126 0.00007
NM_198576.4(AGRN):c.1743C>T (p.His581=) rs201239522 0.00007
NM_198576.4(AGRN):c.1884C>T (p.Pro628=) rs141590368 0.00007
NM_198576.4(AGRN):c.2372-12C>A rs186812808 0.00007
NM_198576.4(AGRN):c.2559C>T (p.Gly853=) rs369198471 0.00007
NM_198576.4(AGRN):c.3795T>A (p.Ile1265=) rs767379743 0.00007
NM_198576.4(AGRN):c.3810G>A (p.Thr1270=) rs369304443 0.00007
NM_198576.4(AGRN):c.4050C>T (p.Gly1350=) rs750911464 0.00007
NM_198576.4(AGRN):c.5280G>A (p.Lys1760=) rs759020548 0.00007
NM_198576.4(AGRN):c.5589C>T (p.Asp1863=) rs148105695 0.00007
NM_198576.4(AGRN):c.6027C>T (p.Tyr2009=) rs535807619 0.00007
NM_000080.4(CHRNE):c.1074G>A (p.Pro358=) rs745744138 0.00006
NM_000080.4(CHRNE):c.1104C>T (p.Pro368=) rs767374241 0.00006
NM_000080.4(CHRNE):c.1419C>A (p.Ile473=) rs750097789 0.00006
NM_000080.4(CHRNE):c.174G>A (p.Thr58=) rs373275223 0.00006
NM_000080.4(CHRNE):c.480G>A (p.Gln160=) rs754300536 0.00006
NM_000080.4(CHRNE):c.726C>T (p.Phe242=) rs150133823 0.00006
NM_000080.4(CHRNE):c.804C>T (p.Ala268=) rs775149431 0.00006
NM_000080.4(CHRNE):c.948G>A (p.Thr316=) rs144207552 0.00006
NM_000334.4(SCN4A):c.2448T>C (p.Asp816=) rs150307926 0.00006
NM_000747.3(CHRNB1):c.300G>T (p.Ser100=) rs376099204 0.00006
NM_000747.3(CHRNB1):c.59-14C>T rs770468832 0.00006
NM_000747.3(CHRNB1):c.723C>A (p.Ile241=) rs768773947 0.00006
NM_000747.3(CHRNB1):c.771C>T (p.Ile257=) rs767109873 0.00006
NM_001171613.2(PREPL):c.1455G>A (p.Glu485=) rs376716463 0.00006
NM_001171613.2(PREPL):c.1647C>T (p.His549=) rs950736240 0.00006
NM_001171613.2(PREPL):c.1806A>G (p.Val602=) rs771937635 0.00006
NM_001171613.2(PREPL):c.282C>G (p.Thr94=) rs200854824 0.00006
NM_001171613.2(PREPL):c.350-12A>G rs746840354 0.00006
NM_001244710.2(GFPT1):c.1035G>A (p.Lys345=) rs373488949 0.00006
NM_001244710.2(GFPT1):c.1894-9C>T rs765467067 0.00006
NM_001244710.2(GFPT1):c.54A>G (p.Glu18=) rs199770054 0.00006
NM_001244710.2(GFPT1):c.845+7T>C rs371199882 0.00006
NM_001382.4(DPAGT1):c.351A>G (p.Val117=) rs146610900 0.00006
NM_002334.4(LRP4):c.1023C>T (p.Ser341=) rs200097836 0.00006
NM_002334.4(LRP4):c.1048+20G>A rs199512829 0.00006
NM_002334.4(LRP4):c.1584C>T (p.Thr528=) rs574108233 0.00006
NM_002334.4(LRP4):c.177C>T (p.Asp59=) rs373625784 0.00006
NM_002334.4(LRP4):c.2318G>A (p.Arg773His) rs374890595 0.00006
NM_002334.4(LRP4):c.3756G>A (p.Val1252=) rs75923112 0.00006
NM_002334.4(LRP4):c.4254C>T (p.Asn1418=) rs201016203 0.00006
NM_002334.4(LRP4):c.4255A>G (p.Met1419Val) rs779526693 0.00006
NM_002334.4(LRP4):c.4293C>T (p.Asp1431=) rs17848229 0.00006
NM_002334.4(LRP4):c.4408C>T (p.Leu1470=) rs372569948 0.00006
NM_002334.4(LRP4):c.4812C>T (p.Ile1604=) rs753496184 0.00006
NM_002334.4(LRP4):c.612C>T (p.Ile204=) rs757902891 0.00006
NM_005055.5(RAPSN):c.30C>T (p.Ile10=) rs768838402 0.00006
NM_005055.5(RAPSN):c.756C>T (p.Phe252=) rs758794718 0.00006
NM_005055.5(RAPSN):c.948C>T (p.Ala316=) rs374676714 0.00006
NM_005592.4(MUSK):c.1863G>A (p.Ala621=) rs368049319 0.00006
NM_005592.4(MUSK):c.570T>C (p.Cys190=) rs746340721 0.00006
NM_005592.4(MUSK):c.913+10C>G rs761707078 0.00006
NM_005677.4(COLQ):c.393+12G>A rs372145044 0.00006
NM_005677.4(COLQ):c.912C>T (p.Tyr304=) rs886058099 0.00006
NM_020549.5(CHAT):c.1032C>T (p.Asp344=) rs145203976 0.00006
NM_020549.5(CHAT):c.1266C>T (p.Tyr422=) rs201381950 0.00006
NM_020549.5(CHAT):c.1671G>A (p.Ala557=) rs777066390 0.00006
NM_020549.5(CHAT):c.1814G>A (p.Arg605His) rs199926163 0.00006
NM_020549.5(CHAT):c.968G>A (p.Arg323His) rs200176236 0.00006
NM_021815.5(SLC5A7):c.1434A>G (p.Pro478=) rs761926640 0.00006
NM_021815.5(SLC5A7):c.1467A>G (p.Leu489=) rs181802200 0.00006
NM_033087.4(ALG2):c.255C>G (p.Gly85=) rs562977386 0.00006
NM_033087.4(ALG2):c.60C>T (p.Leu20=) rs200338773 0.00006
NM_033087.4(ALG2):c.981T>C (p.Phe327=) rs34382969 0.00006
NM_130811.4(SNAP25):c.115-20C>G rs201555996 0.00006
NM_144988.4(ALG14):c.609A>G (p.Lys203=) rs200959923 0.00006
NM_144988.4(ALG14):c.9C>T (p.Cys3=) rs780164458 0.00006
NM_173660.5(DOK7):c.1014C>T (p.Ser338=) rs768867580 0.00006
NM_173660.5(DOK7):c.1107G>A (p.Leu369=) rs778918520 0.00006
NM_173660.5(DOK7):c.1170C>T (p.Pro390=) rs199525739 0.00006
NM_173660.5(DOK7):c.532+9G>A rs374795386 0.00006
NM_173660.5(DOK7):c.54+32G>C rs763739780 0.00006
NM_173660.5(DOK7):c.639G>A (p.Arg213=) rs1411499971 0.00006
NM_173660.5(DOK7):c.653-9C>G rs1350076940 0.00006
NM_173660.5(DOK7):c.882G>A (p.Thr294=) rs369425286 0.00006
NM_173660.5(DOK7):c.996C>T (p.Arg332=) rs781199587 0.00006
NM_198576.4(AGRN):c.1177+7G>A rs369788908 0.00006
NM_198576.4(AGRN):c.1384+11C>T rs757374706 0.00006
NM_198576.4(AGRN):c.1385-13G>A rs773483670 0.00006
NM_198576.4(AGRN):c.1539C>T (p.Cys513=) rs370615022 0.00006
NM_198576.4(AGRN):c.1659C>T (p.Cys553=) rs541915367 0.00006
NM_198576.4(AGRN):c.1695C>T (p.Pro565=) rs778573221 0.00006
NM_198576.4(AGRN):c.1749C>T (p.His583=) rs777039259 0.00006
NM_198576.4(AGRN):c.1989G>A (p.Pro663=) rs374358844 0.00006
NM_198576.4(AGRN):c.2538C>G (p.Pro846=) rs376387543 0.00006
NM_198576.4(AGRN):c.2805+17G>A rs373750601 0.00006
NM_198576.4(AGRN):c.3516+8G>A rs199620555 0.00006
NM_198576.4(AGRN):c.4167C>T (p.Arg1389=) rs74726601 0.00006
NM_198576.4(AGRN):c.4338C>T (p.Ala1446=) rs755467815 0.00006
NM_198576.4(AGRN):c.4371G>A (p.Leu1457=) rs774243334 0.00006
NM_198576.4(AGRN):c.4542C>T (p.Ala1514=) rs937680674 0.00006
NM_198576.4(AGRN):c.464-7C>T rs753696645 0.00006
NM_198576.4(AGRN):c.4731G>A (p.Pro1577=) rs115885544 0.00006
NM_198576.4(AGRN):c.4989G>A (p.Ala1663=) rs371635309 0.00006
NM_198576.4(AGRN):c.5274C>T (p.Asn1758=) rs776201093 0.00006
NM_198576.4(AGRN):c.5370+18G>A rs370604699 0.00006
NM_198576.4(AGRN):c.5370+9G>A rs774988688 0.00006
NM_198576.4(AGRN):c.5564-18C>T rs187269631 0.00006
NM_198576.4(AGRN):c.5651+14C>T rs766872717 0.00006
NM_000080.4(CHRNE):c.1033-20A>G rs1449745005 0.00005
NM_000080.4(CHRNE):c.462C>T (p.Tyr154=) rs781427923 0.00005
NM_000334.4(SCN4A):c.1710C>T (p.Ile570=) rs760067411 0.00005
NM_000334.4(SCN4A):c.4626C>T (p.Leu1542=) rs773864470 0.00005
NM_000334.4(SCN4A):c.704-8G>A rs762393514 0.00005
NM_000747.3(CHRNB1):c.1365+16G>T rs749948799 0.00005
NM_000747.3(CHRNB1):c.852G>T (p.Leu284=) rs145826933 0.00005
NM_001171613.2(PREPL):c.-49+1866C>T rs202213424 0.00005
NM_001171613.2(PREPL):c.1665C>T (p.Asn555=) rs375673588 0.00005
NM_001171613.2(PREPL):c.1828-17T>A rs746448655 0.00005
NM_001244710.2(GFPT1):c.739+11C>T rs576618872 0.00005
NM_001382.4(DPAGT1):c.644-10G>A rs192269738 0.00005
NM_002334.4(LRP4):c.1437C>T (p.Arg479=) rs141108617 0.00005
NM_002334.4(LRP4):c.1779C>T (p.Ala593=) rs202063944 0.00005
NM_002334.4(LRP4):c.3585C>T (p.Ser1195=) rs148361325 0.00005
NM_002334.4(LRP4):c.3837C>T (p.Asp1279=) rs779045515 0.00005
NM_002334.4(LRP4):c.4404T>C (p.Asn1468=) rs752801557 0.00005
NM_002334.4(LRP4):c.4584-15T>C rs777314555 0.00005
NM_002334.4(LRP4):c.5556C>T (p.Ala1852=) rs200514161 0.00005
NM_002334.4(LRP4):c.922+13G>A rs771013783 0.00005
NM_005055.5(RAPSN):c.363C>T (p.Leu121=) rs190548363 0.00005
NM_005592.4(MUSK):c.1259G>A (p.Gly420Glu) rs373421409 0.00005
NM_005592.4(MUSK):c.1542T>G (p.Thr514=) rs762656586 0.00005
NM_005592.4(MUSK):c.1674G>A (p.Pro558=) rs541645382 0.00005
NM_005592.4(MUSK):c.1862C>T (p.Ala621Val) rs777853943 0.00005
NM_005592.4(MUSK):c.206+9T>C rs753218110 0.00005
NM_005592.4(MUSK):c.486+12T>A rs757179369 0.00005
NM_005592.4(MUSK):c.885C>T (p.Ala295=) rs756029372 0.00005
NM_020549.5(CHAT):c.114G>C (p.Gln38His) rs746540866 0.00005
NM_020549.5(CHAT):c.1230C>T (p.Gly410=) rs779724822 0.00005
NM_020549.5(CHAT):c.156C>T (p.Ala52=) rs1286222980 0.00005
NM_020549.5(CHAT):c.794G>A (p.Gly265Glu) rs777336258 0.00005
NM_021815.5(SLC5A7):c.178+16G>C rs756377938 0.00005
NM_021815.5(SLC5A7):c.351G>A (p.Pro117=) rs368109143 0.00005
NM_033087.4(ALG2):c.1200T>C (p.Pro400=) rs764916897 0.00005
NM_130811.4(SNAP25):c.513C>T (p.Ile171=) rs372122045 0.00005
NM_144988.4(ALG14):c.540G>A (p.Thr180=) rs767937526 0.00005
NM_173660.5(DOK7):c.201C>T (p.Pro67=) rs770153614 0.00005
NM_173660.5(DOK7):c.331+16C>T rs577280323 0.00005
NM_173660.5(DOK7):c.378C>T (p.Ser126=) rs753043554 0.00005
NM_173660.5(DOK7):c.653-18G>C rs762076600 0.00005
NM_173660.5(DOK7):c.822C>T (p.Asp274=) rs141732576 0.00005
NM_198576.4(AGRN):c.1567G>A (p.Gly523Arg) rs377608464 0.00005
NM_198576.4(AGRN):c.2647G>A (p.Gly883Ser) rs145162376 0.00005
NM_198576.4(AGRN):c.3165C>T (p.Ser1055=) rs753211720 0.00005
NM_198576.4(AGRN):c.3251-11C>T rs780751901 0.00005
NM_198576.4(AGRN):c.3388+10C>T rs192594415 0.00005
NM_198576.4(AGRN):c.4113C>T (p.Gly1371=) rs765481875 0.00005
NM_198576.4(AGRN):c.4298+11A>T rs369279324 0.00005
NM_198576.4(AGRN):c.4572C>T (p.Asp1524=) rs755754244 0.00005
NM_198576.4(AGRN):c.5076G>A (p.Ser1692=) rs376271121 0.00005
NM_198576.4(AGRN):c.5799C>T (p.Asn1933=) rs755986768 0.00005
NM_198576.4(AGRN):c.675G>A (p.Arg225=) rs922712578 0.00005
NM_000080.4(CHRNE):c.1032+17C>T rs372131102 0.00004
NM_000080.4(CHRNE):c.1071G>A (p.Pro357=) rs772143528 0.00004
NM_000080.4(CHRNE):c.1137C>G (p.Leu379=) rs368940455 0.00004
NM_000080.4(CHRNE):c.1220-6C>T rs56251503 0.00004
NM_000080.4(CHRNE):c.1332G>C (p.Val444=) rs376975376 0.00004
NM_000080.4(CHRNE):c.1335C>T (p.Ser445=) rs753202734 0.00004
NM_000080.4(CHRNE):c.1374C>T (p.Cys458=) rs201030784 0.00004
NM_000080.4(CHRNE):c.1407C>T (p.Gly469=) rs377178938 0.00004
NM_000080.4(CHRNE):c.15G>A (p.Pro5=) rs756933520 0.00004
NM_000080.4(CHRNE):c.46+8C>T rs371778870 0.00004
NM_000080.4(CHRNE):c.543C>G (p.Ala181=) rs766195083 0.00004
NM_000080.4(CHRNE):c.780C>T (p.Leu260=) rs766792066 0.00004
NM_000080.4(CHRNE):c.818G>C (p.Cys273Ser) rs745821689 0.00004
NM_000080.4(CHRNE):c.951C>T (p.Leu317=) rs757563966 0.00004
NM_000334.4(SCN4A):c.1017C>T (p.Asp339=) rs375655445 0.00004
NM_000334.4(SCN4A):c.204C>T (p.Tyr68=) rs80266947 0.00004
NM_000334.4(SCN4A):c.2376+10G>A rs1194053149 0.00004
NM_000334.4(SCN4A):c.3594C>T (p.Phe1198=) rs201346556 0.00004
NM_000334.4(SCN4A):c.4566C>T (p.Phe1522=) rs538968877 0.00004
NM_000334.4(SCN4A):c.903C>T (p.Tyr301=) rs201411232 0.00004
NM_000334.4(SCN4A):c.939C>T (p.Tyr313=) rs761930114 0.00004
NM_000747.3(CHRNB1):c.1027C>A (p.Pro343Thr) rs760292772 0.00004
NM_000747.3(CHRNB1):c.1225C>G (p.Pro409Ala) rs202144045 0.00004
NM_000747.3(CHRNB1):c.1248G>A (p.Leu416=) rs774757392 0.00004
NM_000747.3(CHRNB1):c.909A>G (p.Leu303=) rs774773039 0.00004
NM_000747.3(CHRNB1):c.90C>T (p.Leu30=) rs753018299 0.00004
NM_001145536.2(C17orf107):c.*2079G>A rs1415170062 0.00004
NM_001171613.2(PREPL):c.143-18G>A rs570783617 0.00004
NM_001171613.2(PREPL):c.1623A>G (p.Lys541=) rs768191033 0.00004
NM_001171613.2(PREPL):c.1725C>T (p.Ile575=) rs775908458 0.00004
NM_001244710.2(GFPT1):c.1041A>T (p.Ile347=) rs772941507 0.00004
NM_001244710.2(GFPT1):c.327C>T (p.Pro109=) rs537066687 0.00004
NM_001244710.2(GFPT1):c.768C>T (p.Leu256=) rs141520017 0.00004
NM_001244710.2(GFPT1):c.845+18A>C rs373520133 0.00004
NM_001244710.2(GFPT1):c.870C>T (p.Arg290=) rs754486756 0.00004
NM_001382.4(DPAGT1):c.162-6C>T rs761454590 0.00004
NM_001382.4(DPAGT1):c.291C>G (p.Ala97=) rs756818317 0.00004
NM_001382.4(DPAGT1):c.33G>A (p.Leu11=) rs773853061 0.00004
NM_002334.4(LRP4):c.1086C>T (p.Asn362=) rs556905132 0.00004
NM_002334.4(LRP4):c.1308G>A (p.Leu436=) rs750627555 0.00004
NM_002334.4(LRP4):c.132C>T (p.Cys44=) rs760552036 0.00004
NM_002334.4(LRP4):c.1668C>T (p.Pro556=) rs766741394 0.00004
NM_002334.4(LRP4):c.1932C>T (p.Phe644=) rs1011484252 0.00004
NM_002334.4(LRP4):c.2093-16T>C rs751168409 0.00004
NM_002334.4(LRP4):c.2202C>T (p.His734=) rs757999800 0.00004
NM_002334.4(LRP4):c.2358C>T (p.His786=) rs371677748 0.00004
NM_002334.4(LRP4):c.2535A>C (p.Thr845=) rs145557677 0.00004
NM_002334.4(LRP4):c.2766C>T (p.Ala922=) rs773599397 0.00004
NM_002334.4(LRP4):c.3459G>A (p.Leu1153=) rs768821263 0.00004
NM_002334.4(LRP4):c.4245C>T (p.Asn1415=) rs185084650 0.00004
NM_002334.4(LRP4):c.4665T>C (p.His1555=) rs145206396 0.00004
NM_002334.4(LRP4):c.5001G>A (p.Lys1667=) rs780329570 0.00004
NM_002334.4(LRP4):c.5088-20C>T rs370004451 0.00004
NM_002334.4(LRP4):c.53-7C>T rs745407997 0.00004
NM_002334.4(LRP4):c.5586G>A (p.Thr1862=) rs751494811 0.00004
NM_002334.4(LRP4):c.933A>G (p.Gln311=) rs375108263 0.00004
NM_003081.5(SNAP25):c.73-9A>G rs371883444 0.00004
NM_005055.5(RAPSN):c.216G>A (p.Thr72=) rs141877523 0.00004
NM_005055.5(RAPSN):c.690+19G>A rs183974908 0.00004
NM_005055.5(RAPSN):c.708G>A (p.Ala236=) rs770777539 0.00004
NM_005592.4(MUSK):c.1323T>C (p.His441=) rs369015815 0.00004
NM_005592.4(MUSK):c.1522G>A (p.Val508Met) rs769267043 0.00004
NM_005592.4(MUSK):c.2098G>A (p.Ala700Thr) rs547450130 0.00004
NM_005592.4(MUSK):c.2286C>T (p.Asp762=) rs199832657 0.00004
NM_005592.4(MUSK):c.2403G>A (p.Gln801=) rs372194698 0.00004
NM_005592.4(MUSK):c.358+19C>T rs376236950 0.00004
NM_005592.4(MUSK):c.397A>G (p.Ile133Val) rs570136508 0.00004
NM_005592.4(MUSK):c.453A>G (p.Ser151=) rs373961420 0.00004
NM_005592.4(MUSK):c.486+15T>C rs369902312 0.00004
NM_005677.4(COLQ):c.1164C>T (p.Asp388=) rs149852377 0.00004
NM_005677.4(COLQ):c.1196-15_1196-13del rs758190106 0.00004
NM_005677.4(COLQ):c.250C>T (p.Leu84=) rs369308750 0.00004
NM_005677.4(COLQ):c.522C>T (p.Gly174=) rs113843907 0.00004
NM_005677.4(COLQ):c.600+15C>T rs759209415 0.00004
NM_005677.4(COLQ):c.858G>T (p.Gly286=) rs756396914 0.00004
NM_020549.5(CHAT):c.1037G>A (p.Arg346His) rs779668516 0.00004
NM_020549.5(CHAT):c.1074G>A (p.Arg358=) rs371905802 0.00004
NM_020549.5(CHAT):c.1467G>A (p.Pro489=) rs558057516 0.00004
NM_020549.5(CHAT):c.1512-5C>A rs187862179 0.00004
NM_020549.5(CHAT):c.1668C>T (p.Ser556=) rs55702495 0.00004
NM_020549.5(CHAT):c.1971T>C (p.Thr657=) rs368254411 0.00004
NM_020549.5(CHAT):c.287-4C>G rs779267880 0.00004
NM_020549.5(CHAT):c.388-4C>T rs369932994 0.00004
NM_020549.5(CHAT):c.414G>A (p.Pro138=) rs199675090 0.00004
NM_020549.5(CHAT):c.886A>G (p.Ser296Gly) rs141599748 0.00004
NM_021815.5(SLC5A7):c.1119G>A (p.Ser373=) rs759819899 0.00004
NM_021815.5(SLC5A7):c.178+17C>A rs555753695 0.00004
NM_021815.5(SLC5A7):c.498C>A (p.Ile166=) rs138947334 0.00004
NM_021815.5(SLC5A7):c.540G>C (p.Gly180=) rs574474443 0.00004
NM_021815.5(SLC5A7):c.598-3C>T rs191434558 0.00004
NM_021815.5(SLC5A7):c.810T>C (p.Ala270=) rs146618904 0.00004
NM_033087.4(ALG2):c.1116A>G (p.Ala372=) rs573570972 0.00004
NM_033087.4(ALG2):c.657A>C (p.Leu219=) rs201667181 0.00004
NM_033087.4(ALG2):c.687C>T (p.Leu229=) rs762613857 0.00004
NM_130811.4(SNAP25):c.462C>T (p.Ser154=) rs201639889 0.00004
NM_130811.4(SNAP25):c.552+9G>A rs375161376 0.00004
NM_173660.5(DOK7):c.1023C>T (p.Ala341=) rs773612095 0.00004
NM_173660.5(DOK7):c.1386C>T (p.Ser462=) rs776733631 0.00004
NM_173660.5(DOK7):c.257C>T (p.Ala86Val) rs575986565 0.00004
NM_173660.5(DOK7):c.54+10C>T rs1260785223 0.00004
NM_173660.5(DOK7):c.652+14C>G rs368188578 0.00004
NM_173660.5(DOK7):c.772+20T>C rs376466543 0.00004
NM_173660.5(DOK7):c.773-7G>A rs775008753 0.00004
NM_198576.4(AGRN):c.1380G>A (p.Pro460=) rs753038414 0.00004
NM_198576.4(AGRN):c.1586C>T (p.Ala529Val) rs752221979 0.00004
NM_198576.4(AGRN):c.1638C>T (p.Cys546=) rs142440782 0.00004
NM_198576.4(AGRN):c.1710C>T (p.Asp570=) rs758511854 0.00004
NM_198576.4(AGRN):c.1999+8G>A rs757759138 0.00004
NM_198576.4(AGRN):c.2349C>T (p.Gly783=) rs773501739 0.00004
NM_198576.4(AGRN):c.2371+12A>G rs375177822 0.00004
NM_198576.4(AGRN):c.2631T>C (p.Cys877=) rs545849353 0.00004
NM_198576.4(AGRN):c.2646C>T (p.Asp882=) rs376524541 0.00004
NM_198576.4(AGRN):c.288C>G (p.Gly96=) rs369704878 0.00004
NM_198576.4(AGRN):c.2911+13G>A rs370369992 0.00004
NM_198576.4(AGRN):c.3006C>T (p.Gly1002=) rs774744948 0.00004
NM_198576.4(AGRN):c.3162G>A (p.Ala1054=) rs765687675 0.00004
NM_198576.4(AGRN):c.3251-13C>T rs770438199 0.00004
NM_198576.4(AGRN):c.3354G>A (p.Thr1118=) rs774878358 0.00004
NM_198576.4(AGRN):c.3366C>T (p.Asp1122=) rs374090990 0.00004
NM_198576.4(AGRN):c.3543C>T (p.Asp1181=) rs775453668 0.00004
NM_198576.4(AGRN):c.3552G>A (p.Lys1184=) rs200738126 0.00004
NM_198576.4(AGRN):c.3752-6C>T rs779516004 0.00004
NM_198576.4(AGRN):c.3861G>A (p.Arg1287=) rs759115477 0.00004
NM_198576.4(AGRN):c.3867G>A (p.Pro1289=) rs372005493 0.00004
NM_198576.4(AGRN):c.4125G>A (p.Pro1375=) rs375628080 0.00004
NM_198576.4(AGRN):c.4314G>A (p.Ser1438=) rs375067610 0.00004
NM_198576.4(AGRN):c.4476C>T (p.Asp1492=) rs764644357 0.00004
NM_198576.4(AGRN):c.4644C>T (p.Cys1548=) rs752280977 0.00004
NM_198576.4(AGRN):c.4879+10G>A rs776398649 0.00004
NM_198576.4(AGRN):c.498G>A (p.Pro166=) rs775955535 0.00004
NM_198576.4(AGRN):c.5169C>A (p.Ala1723=) rs751301262 0.00004
NM_198576.4(AGRN):c.5379C>T (p.Leu1793=) rs748809971 0.00004
NM_198576.4(AGRN):c.5651+11A>G rs552512280 0.00004
NM_198576.4(AGRN):c.672G>A (p.Gln224=) rs761768203 0.00004
NM_198576.4(AGRN):c.711C>T (p.Leu237=) rs779843530 0.00004
NM_000080.4(CHRNE):c.1056C>T (p.Arg352=) rs558633663 0.00003
NM_000080.4(CHRNE):c.802+7A>C rs756213406 0.00003
NM_000080.4(CHRNE):c.991C>A (p.Arg331=) rs121909515 0.00003
NM_000334.4(SCN4A):c.3318+15G>A rs371928013 0.00003
NM_000334.4(SCN4A):c.4263C>T (p.Phe1421=) rs267604989 0.00003
NM_000334.4(SCN4A):c.4323C>T (p.Phe1441=) rs372442108 0.00003
NM_000334.4(SCN4A):c.5029C>T (p.Leu1677=) rs774089795 0.00003
NM_000334.4(SCN4A):c.5191G>A (p.Ala1731Thr) rs371104286 0.00003
NM_000747.3(CHRNB1):c.1116G>A (p.Glu372=) rs761970777 0.00003
NM_000747.3(CHRNB1):c.565G>A (p.Gly189Arg) rs555348704 0.00003
NM_001145536.2(C17orf107):c.*982G>A rs1175424462 0.00003
NM_001171613.2(PREPL):c.-49+1724A>C rs771527567 0.00003
NM_001171613.2(PREPL):c.143-6A>G rs766088205 0.00003
NM_001171613.2(PREPL):c.1500C>G (p.Leu500=) rs751760140 0.00003
NM_001171613.2(PREPL):c.1753+17A>C rs752148765 0.00003
NM_001171613.2(PREPL):c.420C>T (p.Asp140=) rs550765961 0.00003
NM_001244710.2(GFPT1):c.429C>T (p.Phe143=) rs1207796251 0.00003
NM_001244710.2(GFPT1):c.465C>T (p.Leu155=) rs759065498 0.00003
NM_001244710.2(GFPT1):c.57C>T (p.Ile19=) rs759431850 0.00003
NM_001244710.2(GFPT1):c.685+15A>G rs754593037 0.00003
NM_001244710.2(GFPT1):c.686-8A>G rs747052866 0.00003
NM_001244710.2(GFPT1):c.740-7G>A rs1389698795 0.00003
NM_001244710.2(GFPT1):c.846-14T>C rs373534126 0.00003
NM_001244710.2(GFPT1):c.960C>T (p.Pro320=) rs140814934 0.00003
NM_001382.4(DPAGT1):c.283-9C>T rs746355462 0.00003
NM_001382.4(DPAGT1):c.496+17C>T rs749725470 0.00003
NM_001382.4(DPAGT1):c.644-15T>A rs749199504 0.00003
NM_001382.4(DPAGT1):c.918-8C>T rs531346717 0.00003
NM_002334.4(LRP4):c.1284C>T (p.Pro428=) rs374136996 0.00003
NM_002334.4(LRP4):c.1368C>T (p.His456=) rs570223328 0.00003
NM_002334.4(LRP4):c.3136+10A>G rs377543577 0.00003
NM_002334.4(LRP4):c.3462C>T (p.Asp1154=) rs570258125 0.00003
NM_002334.4(LRP4):c.3516C>T (p.Ile1172=) rs377557349 0.00003
NM_002334.4(LRP4):c.3861C>A (p.Ile1287=) rs751449110 0.00003
NM_002334.4(LRP4):c.4269C>T (p.Ile1423=) rs952249452 0.00003
NM_002334.4(LRP4):c.431-8C>T rs150531536 0.00003
NM_002334.4(LRP4):c.501C>T (p.Cys167=) rs369739623 0.00003
NM_002334.4(LRP4):c.504C>T (p.Asp168=) rs749048211 0.00003
NM_002334.4(LRP4):c.5385+13A>G rs370288647 0.00003
NM_002334.4(LRP4):c.768T>C (p.Cys256=) rs774343834 0.00003
NM_005055.5(RAPSN):c.1077G>A (p.Thr359=) rs565321918 0.00003
NM_005055.5(RAPSN):c.246C>T (p.Leu82=) rs780420252 0.00003
NM_005055.5(RAPSN):c.567G>A (p.Ala189=) rs886043559 0.00003
NM_005055.5(RAPSN):c.705C>T (p.Ile235=) rs562539081 0.00003
NM_005055.5(RAPSN):c.717C>T (p.His239=) rs576729861 0.00003
NM_005055.5(RAPSN):c.729A>G (p.Pro243=) rs1297914613 0.00003
NM_005055.5(RAPSN):c.966+16G>A rs759757902 0.00003
NM_005592.4(MUSK):c.1277T>C (p.Met426Thr) rs368044285 0.00003
NM_005592.4(MUSK):c.2111G>A (p.Cys704Tyr) rs577931355 0.00003
NM_005592.4(MUSK):c.2406C>T (p.Pro802=) rs1444464544 0.00003
NM_005677.4(COLQ):c.1224T>C (p.Gly408=) rs1297066860 0.00003
NM_005677.4(COLQ):c.1299-20C>T rs375712012 0.00003
NM_005677.4(COLQ):c.393+18C>T rs769699068 0.00003
NM_005677.4(COLQ):c.815-5C>T rs771406985 0.00003
NM_020549.5(CHAT):c.1068C>T (p.Asp356=) rs748193892 0.00003
NM_020549.5(CHAT):c.1281+8G>A rs376227674 0.00003
NM_020549.5(CHAT):c.1656C>T (p.Pro552=) rs1268229300 0.00003
NM_020549.5(CHAT):c.2183C>T (p.Thr728Ile) rs74334349 0.00003
NM_020549.5(CHAT):c.387+18C>A rs758829418 0.00003
NM_020549.5(CHAT):c.452G>A (p.Arg151Gln) rs202059535 0.00003
NM_020549.5(CHAT):c.910G>A (p.Val304Ile) rs116362950 0.00003
NM_020549.5(CHAT):c.93G>C (p.Val31=) rs1399903985 0.00003
NM_021815.5(SLC5A7):c.1114-14G>A rs773703560 0.00003
NM_021815.5(SLC5A7):c.1529A>C (p.Lys510Thr) rs199693962 0.00003
NM_021815.5(SLC5A7):c.179-19A>C rs775209241 0.00003
NM_021815.5(SLC5A7):c.179-20C>T rs375281148 0.00003
NM_021815.5(SLC5A7):c.448+9C>A rs759922183 0.00003
NM_033087.4(ALG2):c.159C>T (p.His53=) rs527683080 0.00003
NM_033087.4(ALG2):c.495C>T (p.Tyr165=) rs962112292 0.00003
NM_033087.4(ALG2):c.783G>A (p.Arg261=) rs765386769 0.00003
NM_130811.4(SNAP25):c.114+13A>G rs376612916 0.00003
NM_130811.4(SNAP25):c.393C>T (p.Gly131=) rs761144395 0.00003
NM_130811.4(SNAP25):c.471C>T (p.Ile157=) rs777212434 0.00003
NM_130811.4(SNAP25):c.552+8C>T rs528347276 0.00003
NM_173660.5(DOK7):c.1065C>T (p.Tyr355=) rs200284964 0.00003
NM_173660.5(DOK7):c.1083C>T (p.Asp361=) rs554026540 0.00003
NM_173660.5(DOK7):c.332-6C>G rs1482072459 0.00003
NM_173660.5(DOK7):c.486C>T (p.Ala162=) rs371609452 0.00003
NM_173660.5(DOK7):c.55-16C>T rs976572936 0.00003
NM_173660.5(DOK7):c.564G>A (p.Glu188=) rs375631042 0.00003
NM_173660.5(DOK7):c.773-18C>T rs749706359 0.00003
NM_173660.5(DOK7):c.828C>T (p.Ser276=) rs772682276 0.00003
NM_173660.5(DOK7):c.864C>G (p.Ser288=) rs554816775 0.00003
NM_198576.4(AGRN):c.1122G>A (p.Gly374=) rs563020089 0.00003
NM_198576.4(AGRN):c.1155C>T (p.Arg385=) rs373114285 0.00003
NM_198576.4(AGRN):c.120G>A (p.Glu40=) rs1453110514 0.00003
NM_198576.4(AGRN):c.1254C>T (p.Arg418=) rs748348470 0.00003
NM_198576.4(AGRN):c.1518C>T (p.Gly506=) rs139594136 0.00003
NM_198576.4(AGRN):c.1728C>T (p.Ser576=) rs768510595 0.00003
NM_198576.4(AGRN):c.2070C>T (p.Arg690=) rs146441147 0.00003
NM_198576.4(AGRN):c.2106G>A (p.Pro702=) rs758527698 0.00003
NM_198576.4(AGRN):c.2148+8C>G rs747897478 0.00003
NM_198576.4(AGRN):c.2149-4C>T rs557551535 0.00003
NM_198576.4(AGRN):c.2313C>T (p.Tyr771=) rs145920099 0.00003
NM_198576.4(AGRN):c.2832C>T (p.Tyr944=) rs1230559646 0.00003
NM_198576.4(AGRN):c.3057G>A (p.Pro1019=) rs199554974 0.00003
NM_198576.4(AGRN):c.3300C>T (p.Val1100=) rs935964266 0.00003
NM_198576.4(AGRN):c.336C>T (p.Thr112=) rs569638601 0.00003
NM_198576.4(AGRN):c.3453G>A (p.Thr1151=) rs1350997043 0.00003
NM_198576.4(AGRN):c.3456C>T (p.Pro1152=) rs368015466 0.00003
NM_198576.4(AGRN):c.3831G>A (p.Ser1277=) rs1281476060 0.00003
NM_198576.4(AGRN):c.3933C>A (p.Pro1311=) rs1163975598 0.00003
NM_198576.4(AGRN):c.4106-12C>T rs766736643 0.00003
NM_198576.4(AGRN):c.4106-16C>T rs761240917 0.00003
NM_198576.4(AGRN):c.4143C>T (p.Ser1381=) rs747285842 0.00003
NM_198576.4(AGRN):c.426C>T (p.Thr142=) rs771335673 0.00003
NM_198576.4(AGRN):c.4353G>A (p.Pro1451=) rs181981987 0.00003
NM_198576.4(AGRN):c.4515-14C>T rs757241549 0.00003
NM_198576.4(AGRN):c.459G>T (p.Val153=) rs892523708 0.00003
NM_198576.4(AGRN):c.4608G>A (p.Pro1536=) rs570277565 0.00003
NM_198576.4(AGRN):c.4744+19C>T rs759402291 0.00003
NM_198576.4(AGRN):c.4758C>T (p.Ala1586=) rs138071518 0.00003
NM_198576.4(AGRN):c.4936C>T (p.Leu1646=) rs371173182 0.00003
NM_198576.4(AGRN):c.4951C>T (p.Leu1651=) rs781152491 0.00003
NM_198576.4(AGRN):c.5141+7C>T rs771799601 0.00003
NM_198576.4(AGRN):c.5181C>G (p.Val1727=) rs1013137001 0.00003
NM_198576.4(AGRN):c.5877-16C>T rs371544818 0.00003
NM_198576.4(AGRN):c.5981-8T>C rs1268727270 0.00003
NM_198576.4(AGRN):c.6119G>A (p.Arg2040Gln) rs527639453 0.00003
NM_198576.4(AGRN):c.663C>T (p.Cys221=) rs955700514 0.00003
NM_198576.4(AGRN):c.749A>C (p.Asn250Thr) rs753435616 0.00003
NM_198576.4(AGRN):c.966C>T (p.Gly322=) rs777762146 0.00003
NM_000080.4(CHRNE):c.1029C>T (p.Arg343=) rs1172630871 0.00002
NM_000080.4(CHRNE):c.1033-9C>A rs1055824191 0.00002
NM_000080.4(CHRNE):c.1060C>T (p.Leu354=) rs763847983 0.00002
NM_000080.4(CHRNE):c.1146G>A (p.Glu382=) rs1236139496 0.00002
NM_000080.4(CHRNE):c.1327-10C>T rs779066933 0.00002
NM_000080.4(CHRNE):c.1455C>T (p.Leu485=) rs369916656 0.00002
NM_000080.4(CHRNE):c.1467G>A (p.Pro489=) rs950225592 0.00002
NM_000080.4(CHRNE):c.235-5C>T rs371818740 0.00002
NM_000080.4(CHRNE):c.237T>C (p.Asp79=) rs777458923 0.00002
NM_000080.4(CHRNE):c.360C>T (p.Phe120=) rs140042356 0.00002
NM_000080.4(CHRNE):c.510G>A (p.Thr170=) rs749454549 0.00002
NM_000080.4(CHRNE):c.720G>T (p.Pro240=) rs1049141147 0.00002
NM_000080.4(CHRNE):c.756G>A (p.Val252=) rs756407780 0.00002
NM_000080.4(CHRNE):c.819C>T (p.Cys273=) rs887770442 0.00002
NM_000080.4(CHRNE):c.852C>T (p.Thr284=) rs770586668 0.00002
NM_000080.4(CHRNE):c.906G>A (p.Pro302=) rs374156332 0.00002
NM_000334.4(SCN4A):c.1845+11G>T rs761523703 0.00002
NM_000334.4(SCN4A):c.483-7C>T rs780933125 0.00002
NM_000747.3(CHRNB1):c.1063C>T (p.Pro355Ser) rs780673811 0.00002
NM_000747.3(CHRNB1):c.1152T>C (p.Gly384=) rs549061953 0.00002
NM_000747.3(CHRNB1):c.1389G>A (p.Val463=) rs1283448996 0.00002
NM_000747.3(CHRNB1):c.1476C>T (p.Tyr492=) rs758446047 0.00002
NM_001145536.2(C17orf107):c.*2235G>A rs753134441 0.00002
NM_001171613.2(PREPL):c.1503C>T (p.Asn501=) rs201427100 0.00002
NM_001171613.2(PREPL):c.363C>T (p.Asp121=) rs183365746 0.00002
NM_001171613.2(PREPL):c.552T>G (p.Thr184=) rs774450920 0.00002
NM_001171613.2(PREPL):c.703-5C>T rs758435946 0.00002
NM_001244710.2(GFPT1):c.1458T>G (p.Pro486=) rs370693172 0.00002
NM_001244710.2(GFPT1):c.1482+16A>G rs376276502 0.00002
NM_001244710.2(GFPT1):c.1726-9T>C rs757234942 0.00002
NM_001244710.2(GFPT1):c.1878A>G (p.Gln626=) rs200986371 0.00002
NM_001244710.2(GFPT1):c.1894-14A>G rs775899275 0.00002
NM_001244710.2(GFPT1):c.45G>A (p.Thr15=) rs763874345 0.00002
NM_001244710.2(GFPT1):c.585C>T (p.Pro195=) rs764483590 0.00002
NM_001244710.2(GFPT1):c.740-16T>A rs749648987 0.00002
NM_001382.4(DPAGT1):c.270C>T (p.Phe90=) rs780625734 0.00002
NM_001382.4(DPAGT1):c.497-5C>T rs556782038 0.00002
NM_002334.4(LRP4):c.105A>C (p.Ala35=) rs766633369 0.00002
NM_002334.4(LRP4):c.1200C>T (p.Ala400=) rs755019127 0.00002
NM_002334.4(LRP4):c.1209G>A (p.Gly403=) rs751742961 0.00002
NM_002334.4(LRP4):c.1380C>T (p.Tyr460=) rs373523952 0.00002
NM_002334.4(LRP4):c.1731C>G (p.Pro577=) rs762761020 0.00002
NM_002334.4(LRP4):c.1824C>T (p.Ala608=) rs368577516 0.00002
NM_002334.4(LRP4):c.228T>C (p.Phe76=) rs146007685 0.00002
NM_002334.4(LRP4):c.2425-20C>T rs760531886 0.00002
NM_002334.4(LRP4):c.2481C>G (p.Thr827=) rs759325895 0.00002
NM_002334.4(LRP4):c.2910C>T (p.Ser970=) rs754936858 0.00002
NM_002334.4(LRP4):c.3033C>T (p.Gly1011=) rs534064794 0.00002
NM_002334.4(LRP4):c.3278-6C>T rs373579793 0.00002
NM_002334.4(LRP4):c.3939C>T (p.Cys1313=) rs779892727 0.00002
NM_002334.4(LRP4):c.4362G>A (p.Ala1454=) rs775166531 0.00002
NM_002334.4(LRP4):c.471C>T (p.Asp157=) rs765171137 0.00002
NM_002334.4(LRP4):c.5070G>T (p.Leu1690=) rs369034386 0.00002
NM_002334.4(LRP4):c.5087+14A>G rs376251083 0.00002
NM_002334.4(LRP4):c.5330A>C (p.Lys1777Thr) rs541585714 0.00002
NM_002334.4(LRP4):c.548-20C>A rs1267038625 0.00002
NM_002334.4(LRP4):c.585G>A (p.Glu195=) rs147714102 0.00002
NM_002334.4(LRP4):c.923-16C>A rs756847264 0.00002
NM_005055.5(RAPSN):c.1002C>T (p.Ser334=) rs376829572 0.00002
NM_005055.5(RAPSN):c.1065C>T (p.Cys355=) rs763094966 0.00002
NM_005055.5(RAPSN):c.1167-17G>A rs770347768 0.00002
NM_005055.5(RAPSN):c.1194C>T (p.Ser398=) rs1013183854 0.00002
NM_005055.5(RAPSN):c.726G>A (p.Arg242=) rs754654883 0.00002
NM_005055.5(RAPSN):c.912+20A>G rs763929869 0.00002
NM_005592.4(MUSK):c.1257A>G (p.Arg419=) rs550568354 0.00002
NM_005592.4(MUSK):c.1716G>A (p.Arg572=) rs747237685 0.00002
NM_005592.4(MUSK):c.1928-13C>A rs779820360 0.00002
NM_005592.4(MUSK):c.1944G>A (p.Gly648=) rs1206244035 0.00002
NM_005592.4(MUSK):c.2184C>A (p.Thr728=) rs918997958 0.00002
NM_005592.4(MUSK):c.2442C>T (p.Tyr814=) rs779578271 0.00002
NM_005592.4(MUSK):c.359-19A>G rs751238962 0.00002
NM_005592.4(MUSK):c.481C>T (p.Leu161Phe) rs1311636142 0.00002
NM_005592.4(MUSK):c.744C>T (p.Asn248=) rs765006536 0.00002
NM_005592.4(MUSK):c.753+7G>C rs193147263 0.00002
NM_005592.4(MUSK):c.978T>C (p.Asn326=) rs563391603 0.00002
NM_005677.4(COLQ):c.1254C>T (p.Asp418=) rs777147864 0.00002
NM_005677.4(COLQ):c.1299-15C>A rs994643666 0.00002
NM_005677.4(COLQ):c.556-7T>C rs780166352 0.00002
NM_005677.4(COLQ):c.942G>A (p.Pro314=) rs771944316 0.00002
NM_005677.4(COLQ):c.999C>A (p.Thr333=) rs774279832 0.00002
NM_020549.5(CHAT):c.1026C>T (p.Asn342=) rs752685760 0.00002
NM_020549.5(CHAT):c.1227C>T (p.His409=) rs578201320 0.00002
NM_020549.5(CHAT):c.1383-4G>A rs779952434 0.00002
NM_020549.5(CHAT):c.1386G>A (p.Thr462=) rs770792319 0.00002
NM_020549.5(CHAT):c.1451G>A (p.Arg484Gln) rs771901229 0.00002
NM_020549.5(CHAT):c.18G>A (p.Ala6=) rs1348352777 0.00002
NM_020549.5(CHAT):c.1992G>A (p.Thr664=) rs767717703 0.00002
NM_020549.5(CHAT):c.258G>C (p.Ser86=) rs778636468 0.00002
NM_020549.5(CHAT):c.350G>A (p.Arg117His) rs376641216 0.00002
NM_020549.5(CHAT):c.492C>T (p.Ala164=) rs746798016 0.00002
NM_020549.5(CHAT):c.864C>T (p.Asp288=) rs766217426 0.00002
NM_020549.5(CHAT):c.897G>A (p.Pro299=) rs756942813 0.00002
NM_021815.5(SLC5A7):c.1731T>C (p.Asp577=) rs766941461 0.00002
NM_021815.5(SLC5A7):c.180T>C (p.Ala60=) rs146871193 0.00002
NM_021815.5(SLC5A7):c.597+7G>A rs377267197 0.00002
NM_033087.4(ALG2):c.1230T>C (p.Tyr410=) rs372356780 0.00002
NM_033087.4(ALG2):c.426G>C (p.Leu142=) rs778882264 0.00002
NM_033087.4(ALG2):c.462A>G (p.Leu154=) rs746100517 0.00002
NM_033087.4(ALG2):c.6G>A (p.Ala2=) rs766287162 0.00002
NM_033087.4(ALG2):c.93G>C (p.Arg31=) rs1012959999 0.00002
NM_130811.4(SNAP25):c.282-17C>T rs778696808 0.00002
NM_130811.4(SNAP25):c.407+18T>C rs186894193 0.00002
NM_130811.4(SNAP25):c.73-5C>T rs776269607 0.00002
NM_173660.5(DOK7):c.101-16G>A rs755933024 0.00002
NM_173660.5(DOK7):c.1059G>A (p.Ser353=) rs781086422 0.00002
NM_173660.5(DOK7):c.1197C>T (p.Thr399=) rs756540534 0.00002
NM_173660.5(DOK7):c.1314G>A (p.Thr438=) rs371276345 0.00002
NM_173660.5(DOK7):c.1458G>A (p.Pro486=) rs763843300 0.00002
NM_173660.5(DOK7):c.1506C>T (p.Pro502=) rs753827494 0.00002
NM_173660.5(DOK7):c.321G>A (p.Ala107=) rs769702844 0.00002
NM_173660.5(DOK7):c.453G>A (p.Gln151=) rs764598148 0.00002
NM_173660.5(DOK7):c.54+31_54+32insT rs1245236150 0.00002
NM_173660.5(DOK7):c.55-10G>A rs886043943 0.00002
NM_173660.5(DOK7):c.55-19C>T rs1316334613 0.00002
NM_198576.4(AGRN):c.1248C>T (p.Cys416=) rs372623851 0.00002
NM_198576.4(AGRN):c.1290C>T (p.Ala430=) rs754211714 0.00002
NM_198576.4(AGRN):c.1587G>A (p.Ala529=) rs200506573 0.00002
NM_198576.4(AGRN):c.1611C>T (p.Cys537=) rs373004225 0.00002
NM_198576.4(AGRN):c.1776C>T (p.His592=) rs763322910 0.00002
NM_198576.4(AGRN):c.1842C>T (p.Ser614=) rs774748438 0.00002
NM_198576.4(AGRN):c.1881G>A (p.Pro627=) rs755828129 0.00002
NM_198576.4(AGRN):c.1902C>T (p.Ser634=) rs549820648 0.00002
NM_198576.4(AGRN):c.2094G>A (p.Ser698=) rs200653840 0.00002
NM_198576.4(AGRN):c.2166G>T (p.Gly722=) rs751857392 0.00002
NM_198576.4(AGRN):c.2371+13G>A rs751961924 0.00002
NM_198576.4(AGRN):c.2664C>T (p.Pro888=) rs763648358 0.00002
NM_198576.4(AGRN):c.2805+9T>C rs760075991 0.00002
NM_198576.4(AGRN):c.285C>T (p.Ser95=) rs185077738 0.00002
NM_198576.4(AGRN):c.2994G>A (p.Pro998=) rs770603390 0.00002
NM_198576.4(AGRN):c.3060C>G (p.Pro1020=) rs755135294 0.00002
NM_198576.4(AGRN):c.3156G>A (p.Leu1052=) rs1295512582 0.00002
NM_198576.4(AGRN):c.3408C>T (p.Gly1136=) rs754629991 0.00002
NM_198576.4(AGRN):c.3522C>T (p.Asp1174=) rs374008359 0.00002
NM_198576.4(AGRN):c.3723G>A (p.Leu1241=) rs981386078 0.00002
NM_198576.4(AGRN):c.4020C>T (p.His1340=) rs1427781010 0.00002
NM_198576.4(AGRN):c.4026G>A (p.Gly1342=) rs767942031 0.00002
NM_198576.4(AGRN):c.4320G>A (p.Pro1440=) rs767200294 0.00002
NM_198576.4(AGRN):c.4554G>A (p.Gly1518=) rs751402344 0.00002
NM_198576.4(AGRN):c.4683G>A (p.Gly1561=) rs760507388 0.00002
NM_198576.4(AGRN):c.471C>T (p.Pro157=) rs148157593 0.00002
NM_198576.4(AGRN):c.4744+14C>T rs374346187 0.00002
NM_198576.4(AGRN):c.4914T>C (p.Ala1638=) rs760329841 0.00002
NM_198576.4(AGRN):c.5040C>T (p.Asn1680=) rs368498050 0.00002
NM_198576.4(AGRN):c.5106C>T (p.Phe1702=) rs563420866 0.00002
NM_198576.4(AGRN):c.512-6C>T rs988351859 0.00002
NM_198576.4(AGRN):c.5133G>A (p.Ala1711=) rs376535149 0.00002
NM_198576.4(AGRN):c.5196C>T (p.Asn1732=) rs1264457871 0.00002
NM_198576.4(AGRN):c.5226C>T (p.Asp1742=) rs759448658 0.00002
NM_198576.4(AGRN):c.5259G>A (p.Pro1753=) rs771715098 0.00002
NM_198576.4(AGRN):c.5427C>T (p.Asp1809=) rs963530349 0.00002
NM_198576.4(AGRN):c.5787A>G (p.Gln1929=) rs372147500 0.00002
NM_198576.4(AGRN):c.942C>T (p.Asp314=) rs1257343645 0.00002
NM_000080.4(CHRNE):c.1002C>T (p.Thr334=) rs747880376 0.00001
NM_000080.4(CHRNE):c.1005C>T (p.Thr335=) rs1247241612 0.00001
NM_000080.4(CHRNE):c.1008C>T (p.His336=) rs768479748 0.00001
NM_000080.4(CHRNE):c.1024C>T (p.Leu342=) rs778130828 0.00001
NM_000080.4(CHRNE):c.1032+8C>T rs755463469 0.00001
NM_000080.4(CHRNE):c.1032+9G>A rs752020505 0.00001
NM_000080.4(CHRNE):c.1053G>A (p.Pro351=) rs1290320477 0.00001
NM_000080.4(CHRNE):c.1059C>T (p.Leu353=) rs1292243112 0.00001
NM_000080.4(CHRNE):c.1065C>T (p.Gly355=) rs775638720 0.00001
NM_000080.4(CHRNE):c.1068C>T (p.Ser356=) rs986495754 0.00001
NM_000080.4(CHRNE):c.1077G>T (p.Pro359=) rs907495464 0.00001
NM_000080.4(CHRNE):c.1080C>G (p.Pro360=) rs886042727 0.00001
NM_000080.4(CHRNE):c.1098C>T (p.Ala366=) rs778313885 0.00001
NM_000080.4(CHRNE):c.1122G>A (p.Ser374=) rs1047142793 0.00001
NM_000080.4(CHRNE):c.1128C>T (p.Gly376=) rs1449525013 0.00001
NM_000080.4(CHRNE):c.1143G>A (p.Ala381=) rs942583372 0.00001
NM_000080.4(CHRNE):c.1152G>T (p.Leu384=) rs777363943 0.00001
NM_000080.4(CHRNE):c.1156C>T (p.Leu386=) rs752358041 0.00001
NM_000080.4(CHRNE):c.1170G>C (p.Arg390=) rs955030428 0.00001
NM_000080.4(CHRNE):c.1197G>A (p.Arg399=) rs867064180 0.00001
NM_000080.4(CHRNE):c.1219+9A>G rs559923437 0.00001
NM_000080.4(CHRNE):c.1220-4C>T rs201553105 0.00001
NM_000080.4(CHRNE):c.1254C>T (p.Pro418=) rs1420851295 0.00001
NM_000080.4(CHRNE):c.1284C>T (p.Asn428=) rs750634265 0.00001
NM_000080.4(CHRNE):c.1287C>T (p.Phe429=) rs1349711476 0.00001
NM_000080.4(CHRNE):c.1290G>A (p.Val430=) rs1416247967 0.00001
NM_000080.4(CHRNE):c.1299C>T (p.Ser433=) rs773970037 0.00001
NM_000080.4(CHRNE):c.1303A>C (p.Arg435=) rs1486674648 0.00001
NM_000080.4(CHRNE):c.1320C>T (p.Thr440=) rs1292101958 0.00001
NM_000080.4(CHRNE):c.1326+9G>A rs1171676082 0.00001
NM_000080.4(CHRNE):c.1327-20C>T rs1312286883 0.00001
NM_000080.4(CHRNE):c.1359C>T (p.Ala453=) rs1412855797 0.00001
NM_000080.4(CHRNE):c.1368C>T (p.Asn456=) rs1374818797 0.00001
NM_000080.4(CHRNE):c.1377C>T (p.Phe459=) rs1486567580 0.00001
NM_000080.4(CHRNE):c.1395C>T (p.Leu465=) rs1207444316 0.00001
NM_000080.4(CHRNE):c.1431C>T (p.Ala477=) rs545473686 0.00001
NM_000080.4(CHRNE):c.1461C>T (p.Tyr487=) rs373293781 0.00001
NM_000080.4(CHRNE):c.180C>T (p.Leu60=) rs1486738510 0.00001
NM_000080.4(CHRNE):c.183C>T (p.Ile61=) rs761677000 0.00001
NM_000080.4(CHRNE):c.195A>G (p.Glu65=) rs1334272633 0.00001
NM_000080.4(CHRNE):c.204G>A (p.Glu68=) rs1970025417 0.00001
NM_000080.4(CHRNE):c.312C>T (p.Leu104=) rs1341141356 0.00001
NM_000080.4(CHRNE):c.357G>A (p.Gln119=) rs747638974 0.00001
NM_000080.4(CHRNE):c.372C>T (p.Tyr124=) rs894382905 0.00001
NM_000080.4(CHRNE):c.39G>T (p.Gly13=) rs1247743244 0.00001
NM_000080.4(CHRNE):c.405C>T (p.Ser135=) rs1174619470 0.00001
NM_000080.4(CHRNE):c.420T>C (p.Pro140=) rs886038226 0.00001
NM_000080.4(CHRNE):c.435C>T (p.Arg145=) rs1194731229 0.00001
NM_000080.4(CHRNE):c.441C>A (p.Val147=) rs779058823 0.00001
NM_000080.4(CHRNE):c.468C>T (p.Pro156=) rs751830305 0.00001
NM_000080.4(CHRNE):c.474T>C (p.Asp158=) rs150868720 0.00001
NM_000080.4(CHRNE):c.516T>C (p.Asn172=) rs143410438 0.00001
NM_000080.4(CHRNE):c.534C>T (p.Phe178=) rs1246145838 0.00001
NM_000080.4(CHRNE):c.585C>T (p.Asp195=) rs954677814 0.00001
NM_000080.4(CHRNE):c.588A>C (p.Thr196=) rs763114306 0.00001
NM_000080.4(CHRNE):c.591G>A (p.Glu197=) rs1969984066 0.00001
NM_000080.4(CHRNE):c.669C>T (p.Asp223=) rs1463132688 0.00001
NM_000080.4(CHRNE):c.702C>G (p.Leu234=) rs1344473749 0.00001
NM_000080.4(CHRNE):c.706A>C (p.Ile236Leu) rs145522662 0.00001
NM_000080.4(CHRNE):c.723C>T (p.Leu241=) rs886053126 0.00001
NM_000080.4(CHRNE):c.73C>T (p.Leu25=) rs1970032941 0.00001
NM_000080.4(CHRNE):c.744C>T (p.Ile248=) rs1288770447 0.00001
NM_000080.4(CHRNE):c.762C>T (p.Ile254=) rs752926340 0.00001
NM_000080.4(CHRNE):c.795G>A (p.Pro265=) rs1567638559 0.00001
NM_000080.4(CHRNE):c.831C>T (p.Ile277=) rs755170993 0.00001
NM_000080.4(CHRNE):c.846C>G (p.Ala282=) rs780429979 0.00001
NM_000080.4(CHRNE):c.859T>C (p.Leu287=) rs1969957668 0.00001
NM_000080.4(CHRNE):c.867C>G (p.Leu289=) rs763590279 0.00001
NM_000080.4(CHRNE):c.873C>A (p.Ala291=) rs1326940305 0.00001
NM_000080.4(CHRNE):c.900C>T (p.Ser300=) rs747224472 0.00001
NM_000080.4(CHRNE):c.945C>T (p.Ala315=) rs758560981 0.00001
NM_000080.4(CHRNE):c.972C>T (p.Ile324=) rs1405865454 0.00001
NM_000080.4(CHRNE):c.981C>T (p.Asn327=) rs958190024 0.00001
NM_000334.4(SCN4A):c.1560G>A (p.Pro520=) rs373819078 0.00001
NM_000334.4(SCN4A):c.1755C>T (p.Thr585=) rs1208231013 0.00001
NM_000334.4(SCN4A):c.1923T>C (p.Gly641=) rs543151915 0.00001
NM_000334.4(SCN4A):c.228C>T (p.Ile76=) rs1189122757 0.00001
NM_000334.4(SCN4A):c.2328C>T (p.Ala776=) rs367936207 0.00001
NM_000334.4(SCN4A):c.273+7G>A rs369039376 0.00001
NM_000334.4(SCN4A):c.2853+7C>T rs760934874 0.00001
NM_000334.4(SCN4A):c.2854-19G>A rs1280578508 0.00001
NM_000334.4(SCN4A):c.2958G>A (p.Glu986=) rs372555830 0.00001
NM_000334.4(SCN4A):c.2990-4T>A rs1346938988 0.00001
NM_000334.4(SCN4A):c.3720+7G>A rs553870552 0.00001
NM_000334.4(SCN4A):c.4416G>A (p.Leu1472=) rs758113478 0.00001
NM_000334.4(SCN4A):c.4887C>T (p.Pro1629=) rs756370516 0.00001
NM_000334.4(SCN4A):c.5283C>T (p.Ser1761=) rs766569872 0.00001
NM_000747.3(CHRNB1):c.1321A>G (p.Ser441Gly) rs754895386 0.00001
NM_000747.3(CHRNB1):c.1467C>T (p.Asp489=) rs1362533670 0.00001
NM_000747.3(CHRNB1):c.183G>T (p.Ala61=) rs775849224 0.00001
NM_000747.3(CHRNB1):c.198+10C>G rs912711009 0.00001
NM_000747.3(CHRNB1):c.199-9C>T rs572576481 0.00001
NM_000747.3(CHRNB1):c.303C>T (p.Leu101=) rs748183383 0.00001
NM_000747.3(CHRNB1):c.39G>C (p.Leu13=) rs770359368 0.00001
NM_000747.3(CHRNB1):c.462+7G>A rs747388705 0.00001
NM_000747.3(CHRNB1):c.51C>T (p.Leu17=) rs1351230064 0.00001
NM_000747.3(CHRNB1):c.673A>C (p.Arg225=) rs757402627 0.00001
NM_000747.3(CHRNB1):c.681G>A (p.Gly227=) rs201333755 0.00001
NM_000747.3(CHRNB1):c.756C>T (p.Val252=) rs754596731 0.00001
NM_000747.3(CHRNB1):c.795C>T (p.Phe265=) rs777819302 0.00001
NM_000747.3(CHRNB1):c.821-4C>A rs764035317 0.00001
NM_000751.3(CHRND):c.132C>G (p.Pro44=) rs774771779 0.00001
NM_001145536.2(C17orf107):c.*1801G>T rs374325420 0.00001
NM_001145536.2(C17orf107):c.*2240G>A rs761183088 0.00001
NM_001145536.2(C17orf107):c.*251C>A rs754325287 0.00001
NM_001145536.2(C17orf107):c.*252G>T rs1337368697 0.00001
NM_001145536.2(C17orf107):c.*380G>A rs961218388 0.00001
NM_001145536.2(C17orf107):c.*381G>A rs1314331863 0.00001
NM_001145536.2(C17orf107):c.*382G>A rs760314762 0.00001
NM_001145536.2(C17orf107):c.*666C>T rs1382185555 0.00001
NM_001145536.2(C17orf107):c.-164G>C rs771664527 0.00001
NM_001171613.2(PREPL):c.-22C>T rs148810409 0.00001
NM_001171613.2(PREPL):c.-28A>G rs924063417 0.00001
NM_001171613.2(PREPL):c.-49+1814G>A rs963472046 0.00001
NM_001171613.2(PREPL):c.1086+11T>C rs747536626 0.00001
NM_001171613.2(PREPL):c.1087-9C>G rs755166149 0.00001
NM_001171613.2(PREPL):c.1227G>A (p.Val409=) rs770075037 0.00001
NM_001171613.2(PREPL):c.1230T>C (p.Asp410=) rs948010275 0.00001
NM_001171613.2(PREPL):c.1262+18A>G rs1423411588 0.00001
NM_001171613.2(PREPL):c.1263-12C>T rs1275787716 0.00001
NM_001171613.2(PREPL):c.1266T>C (p.Gly422=) rs755648962 0.00001
NM_001171613.2(PREPL):c.1356G>A (p.Thr452=) rs944899015 0.00001
NM_001171613.2(PREPL):c.142+17C>G rs762928182 0.00001
NM_001171613.2(PREPL):c.1629+9A>C rs1247136692 0.00001
NM_001171613.2(PREPL):c.1701T>C (p.Tyr567=) rs1340727501 0.00001
NM_001171613.2(PREPL):c.1713C>G (p.Leu571=) rs749490971 0.00001
NM_001171613.2(PREPL):c.1753+7G>C rs768510947 0.00001
NM_001171613.2(PREPL):c.1754-20C>T rs1192640537 0.00001
NM_001171613.2(PREPL):c.1827+9T>C rs748870270 0.00001
NM_001171613.2(PREPL):c.1872C>T (p.Asp624=) rs1359281085 0.00001
NM_001171613.2(PREPL):c.234A>G (p.Glu78=) rs1572895650 0.00001
NM_001171613.2(PREPL):c.276A>T (p.Ala92=) rs771393231 0.00001
NM_001171613.2(PREPL):c.30A>G (p.Lys10=) rs1442379605 0.00001
NM_001171613.2(PREPL):c.350-6T>C rs1386526801 0.00001
NM_001171613.2(PREPL):c.375A>G (p.Glu125=) rs367827160 0.00001
NM_001171613.2(PREPL):c.639T>C (p.Tyr213=) rs767656657 0.00001
NM_001171613.2(PREPL):c.703-4G>A rs185432623 0.00001
NM_001171613.2(PREPL):c.717G>A (p.Ala239=) rs754793038 0.00001
NM_001171613.2(PREPL):c.723T>C (p.Asp241=) rs753702774 0.00001
NM_001171613.2(PREPL):c.75+15G>T rs376068245 0.00001
NM_001171613.2(PREPL):c.852G>A (p.Val284=) rs1319728552 0.00001
NM_001244710.2(GFPT1):c.1010-10A>G rs753072061 0.00001
NM_001244710.2(GFPT1):c.116-6G>A rs762154144 0.00001
NM_001244710.2(GFPT1):c.1188C>T (p.Tyr396=) rs1161440351 0.00001
NM_001244710.2(GFPT1):c.1597+11A>C rs778286888 0.00001
NM_001244710.2(GFPT1):c.1845C>T (p.His615=) rs756332941 0.00001
NM_001244710.2(GFPT1):c.1851T>C (p.Tyr617=) rs377155851 0.00001
NM_001244710.2(GFPT1):c.1893+7C>T rs375872036 0.00001
NM_001244710.2(GFPT1):c.2001C>T (p.Ser667=) rs765856240 0.00001
NM_001244710.2(GFPT1):c.2043G>C (p.Leu681=) rs766101867 0.00001
NM_001244710.2(GFPT1):c.2079C>T (p.Ala693=) rs754236476 0.00001
NM_001244710.2(GFPT1):c.223+19T>C rs532780798 0.00001
NM_001244710.2(GFPT1):c.224-9A>G rs1207347337 0.00001
NM_001244710.2(GFPT1):c.306C>G (p.Pro102=) rs763230648 0.00001
NM_001244710.2(GFPT1):c.408+15C>T rs1357797263 0.00001
NM_001244710.2(GFPT1):c.801G>A (p.Pro267=) rs752515655 0.00001
NM_001382.4(DPAGT1):c.1006-8C>G rs1357255095 0.00001
NM_001382.4(DPAGT1):c.1134C>T (p.Asn378=) rs761911331 0.00001
NM_001382.4(DPAGT1):c.1141T>C (p.Leu381=) rs768805817 0.00001
NM_001382.4(DPAGT1):c.1161+10G>A rs761082821 0.00001
NM_001382.4(DPAGT1):c.1188C>T (p.Ser396=) rs747073447 0.00001
NM_001382.4(DPAGT1):c.1203C>T (p.Leu401=) rs746759603 0.00001
NM_001382.4(DPAGT1):c.1221T>C (p.Asp407=) rs772133269 0.00001
NM_001382.4(DPAGT1):c.1224C>T (p.Val408=) rs200588529 0.00001
NM_001382.4(DPAGT1):c.162-20C>T rs749879111 0.00001
NM_001382.4(DPAGT1):c.216C>T (p.Cys72=) rs1438468092 0.00001
NM_001382.4(DPAGT1):c.34C>T (p.Leu12=) rs200991527 0.00001
NM_001382.4(DPAGT1):c.471G>A (p.Pro157=) rs376528767 0.00001
NM_001382.4(DPAGT1):c.621C>T (p.Val207=) rs778726543 0.00001
NM_001382.4(DPAGT1):c.633A>G (p.Val211=) rs767551785 0.00001
NM_001382.4(DPAGT1):c.643+14G>C rs536452844 0.00001
NM_001382.4(DPAGT1):c.714G>A (p.Leu238=) rs1371529040 0.00001
NM_001382.4(DPAGT1):c.828A>G (p.Leu276=) rs780516960 0.00001
NM_001382.4(DPAGT1):c.933A>G (p.Thr311=) rs1432186196 0.00001
NM_001382.4(DPAGT1):c.96C>T (p.Phe32=) rs779048359 0.00001
NM_002334.4(LRP4):c.1049-6G>C rs775792196 0.00001
NM_002334.4(LRP4):c.1212T>C (p.Tyr404=) rs1941501832 0.00001
NM_002334.4(LRP4):c.1251A>G (p.Gln417=) rs753671990 0.00001
NM_002334.4(LRP4):c.1310-7T>A rs1555174059 0.00001
NM_002334.4(LRP4):c.1344C>T (p.Ile448=) rs748651620 0.00001
NM_002334.4(LRP4):c.1365A>G (p.Pro455=) rs143481229 0.00001
NM_002334.4(LRP4):c.1599G>A (p.Ser533=) rs745607132 0.00001
NM_002334.4(LRP4):c.1761T>C (p.Ser587=) rs1191198188 0.00001
NM_002334.4(LRP4):c.1815C>T (p.Ile605=) rs776484339 0.00001
NM_002334.4(LRP4):c.186T>C (p.Asp62=) rs1941691871 0.00001
NM_002334.4(LRP4):c.1915+10T>C rs566481615 0.00001
NM_002334.4(LRP4):c.2010G>A (p.Thr670=) rs199654257 0.00001
NM_002334.4(LRP4):c.2118C>T (p.Asn706=) rs762032159 0.00001
NM_002334.4(LRP4):c.21G>A (p.Ala7=) rs967769665 0.00001
NM_002334.4(LRP4):c.2216-13G>A rs376073181 0.00001
NM_002334.4(LRP4):c.2325T>G (p.Ala775=) rs886048354 0.00001
NM_002334.4(LRP4):c.2424+12C>T rs765593279 0.00001
NM_002334.4(LRP4):c.2424+13G>A rs374365893 0.00001
NM_002334.4(LRP4):c.2835C>T (p.Leu945=) rs201362411 0.00001
NM_002334.4(LRP4):c.2859C>T (p.Leu953=) rs1368908778 0.00001
NM_002334.4(LRP4):c.3005-17C>T rs778370608 0.00001
NM_002334.4(LRP4):c.3072C>T (p.Ser1024=) rs537403005 0.00001
NM_002334.4(LRP4):c.3105C>T (p.Asn1035=) rs1000744964 0.00001
NM_002334.4(LRP4):c.3137-8C>T rs1941047135 0.00001
NM_002334.4(LRP4):c.317-11T>C rs776234303 0.00001
NM_002334.4(LRP4):c.3195C>T (p.Asp1065=) rs745991521 0.00001
NM_002334.4(LRP4):c.3277+11C>T rs761158182 0.00001
NM_002334.4(LRP4):c.3365-7C>T rs1565783851 0.00001
NM_002334.4(LRP4):c.339C>T (p.Asp113=) rs368971854 0.00001
NM_002334.4(LRP4):c.3609G>A (p.Ala1203=) rs755263623 0.00001
NM_002334.4(LRP4):c.3699+10G>A rs770541308 0.00001
NM_002334.4(LRP4):c.3825C>T (p.Ile1275=) rs200028319 0.00001
NM_002334.4(LRP4):c.390T>C (p.Asp130=) rs140186161 0.00001
NM_002334.4(LRP4):c.3954C>T (p.Gly1318=) rs1424152195 0.00001
NM_002334.4(LRP4):c.4095G>T (p.Arg1365=) rs771308040 0.00001
NM_002334.4(LRP4):c.4176T>C (p.Tyr1392=) rs1246562304 0.00001
NM_002334.4(LRP4):c.417C>T (p.Ser139=) rs760201117 0.00001
NM_002334.4(LRP4):c.430+7G>A rs1261702662 0.00001
NM_002334.4(LRP4):c.441G>A (p.Lys147=) rs986524567 0.00001
NM_002334.4(LRP4):c.4501T>C (p.Leu1501=) rs766956711 0.00001
NM_002334.4(LRP4):c.4899G>A (p.Ser1633=) rs143849188 0.00001
NM_002334.4(LRP4):c.5064G>A (p.Thr1688=) rs762976165 0.00001
NM_002334.4(LRP4):c.5088-19A>C rs1338147762 0.00001
NM_002334.4(LRP4):c.5088-5C>T rs994961184 0.00001
NM_002334.4(LRP4):c.5118C>T (p.Leu1706=) rs777935842 0.00001
NM_002334.4(LRP4):c.5156-15C>A rs1204328295 0.00001
NM_002334.4(LRP4):c.52+13C>T rs1434991490 0.00001
NM_002334.4(LRP4):c.5247C>T (p.His1749=) rs138596351 0.00001
NM_002334.4(LRP4):c.531C>T (p.Ser177=) rs751226124 0.00001
NM_002334.4(LRP4):c.5370G>A (p.Leu1790=) rs376540994 0.00001
NM_002334.4(LRP4):c.5424G>A (p.Lys1808=) rs772706817 0.00001
NM_002334.4(LRP4):c.548-18C>A rs779705585 0.00001
NM_002334.4(LRP4):c.5574T>C (p.Asp1858=) rs767372541 0.00001
NM_002334.4(LRP4):c.5607G>A (p.Glu1869=) rs762431184 0.00001
NM_002334.4(LRP4):c.724C>T (p.Leu242=) rs1037889784 0.00001
NM_002334.4(LRP4):c.750C>T (p.Cys250=) rs758493823 0.00001
NM_002334.4(LRP4):c.759C>T (p.Asp253=) rs368640705 0.00001
NM_002334.4(LRP4):c.894C>T (p.Asn298=) rs1592542950 0.00001
NM_002334.4(LRP4):c.922+12C>T rs1297911489 0.00001
NM_002334.4(LRP4):c.922+19C>G rs749318305 0.00001
NM_002334.4(LRP4):c.923-19T>C rs528895748 0.00001
NM_003081.5(SNAP25):c.552+3G>T rs780941797 0.00001
NM_005055.5(RAPSN):c.1038G>A (p.Arg346=) rs764482974 0.00001
NM_005055.5(RAPSN):c.1044C>T (p.His348=) rs1014137280 0.00001
NM_005055.5(RAPSN):c.1089C>T (p.Cys363=) rs150934532 0.00001
NM_005055.5(RAPSN):c.1119G>A (p.Lys373=) rs1048200516 0.00001
NM_005055.5(RAPSN):c.111G>A (p.Ser37=) rs146825957 0.00001
NM_005055.5(RAPSN):c.1155C>T (p.Ile385=) rs1368702539 0.00001
NM_005055.5(RAPSN):c.1166+18G>A rs536788411 0.00001
NM_005055.5(RAPSN):c.1176G>A (p.Gln392=) rs1353799875 0.00001
NM_005055.5(RAPSN):c.1182C>T (p.Asn394=) rs530896580 0.00001
NM_005055.5(RAPSN):c.1212C>T (p.Arg404=) rs2076326463 0.00001
NM_005055.5(RAPSN):c.132C>T (p.Arg44=) rs772917848 0.00001
NM_005055.5(RAPSN):c.150C>A (p.Val50=) rs768214983 0.00001
NM_005055.5(RAPSN):c.192+12C>T rs774654232 0.00001
NM_005055.5(RAPSN):c.192+7G>T rs767745050 0.00001
NM_005055.5(RAPSN):c.195C>T (p.Phe65=) rs772563068 0.00001
NM_005055.5(RAPSN):c.210C>T (p.Ile70=) rs773975835 0.00001
NM_005055.5(RAPSN):c.219C>G (p.Ala73=) rs2076424955 0.00001
NM_005055.5(RAPSN):c.237C>T (p.Ala79=) rs888989685 0.00001
NM_005055.5(RAPSN):c.321G>A (p.Lys107=) rs781529364 0.00001
NM_005055.5(RAPSN):c.345C>A (p.Thr115=) rs1353205717 0.00001
NM_005055.5(RAPSN):c.408C>T (p.Leu136=) rs1466576877 0.00001
NM_005055.5(RAPSN):c.429G>A (p.Leu143=) rs762052702 0.00001
NM_005055.5(RAPSN):c.438C>T (p.Phe146=) rs1459059463 0.00001
NM_005055.5(RAPSN):c.483C>T (p.Leu161=) rs754775068 0.00001
NM_005055.5(RAPSN):c.528C>G (p.Val176=) rs761149747 0.00001
NM_005055.5(RAPSN):c.532-12T>C rs768129120 0.00001
NM_005055.5(RAPSN):c.558C>T (p.Pro186=) rs773462623 0.00001
NM_005055.5(RAPSN):c.576T>C (p.Leu192=) rs745749798 0.00001
NM_005055.5(RAPSN):c.645C>T (p.Ala215=) rs1338665465 0.00001
NM_005055.5(RAPSN):c.691-5C>T rs1291023159 0.00001
NM_005055.5(RAPSN):c.723C>T (p.Asp241=) rs769383562 0.00001
NM_005055.5(RAPSN):c.738G>A (p.Ala246=) rs889862832 0.00001
NM_005055.5(RAPSN):c.789+17G>A rs369690955 0.00001
NM_005055.5(RAPSN):c.813C>T (p.Ser271=) rs760253392 0.00001
NM_005055.5(RAPSN):c.90A>G (p.Thr30=) rs753896492 0.00001
NM_005055.5(RAPSN):c.912+11G>T rs780444573 0.00001
NM_005055.5(RAPSN):c.912+8C>T rs375174267 0.00001
NM_005055.5(RAPSN):c.913-18C>T rs570429072 0.00001
NM_005055.5(RAPSN):c.927C>T (p.Ile309=) rs144813373 0.00001
NM_005055.5(RAPSN):c.957G>C (p.Val319=) rs794727796 0.00001
NM_005055.5(RAPSN):c.967-10C>T rs754320492 0.00001
NM_005055.5(RAPSN):c.987C>T (p.His329=) rs1340342787 0.00001
NM_005592.4(MUSK):c.1329C>T (p.Asp443=) rs1174184253 0.00001
NM_005592.4(MUSK):c.1360+6dup rs1329670157 0.00001
NM_005592.4(MUSK):c.138T>C (p.Thr46=) rs776479773 0.00001
NM_005592.4(MUSK):c.1419G>A (p.Val473=) rs750052542 0.00001
NM_005592.4(MUSK):c.1446C>T (p.Ser482=) rs754903785 0.00001
NM_005592.4(MUSK):c.1512T>C (p.Phe504=) rs374722867 0.00001
NM_005592.4(MUSK):c.1650C>T (p.Pro550=) rs2077842363 0.00001
NM_005592.4(MUSK):c.1755G>A (p.Ala585=) rs377355441 0.00001
NM_005592.4(MUSK):c.1767G>C (p.Val589=) rs546916589 0.00001
NM_005592.4(MUSK):c.1778+17A>G rs769781832 0.00001
NM_005592.4(MUSK):c.1778+20A>G rs773113428 0.00001
NM_005592.4(MUSK):c.2397C>T (p.Gly799=) rs775509048 0.00001
NM_005592.4(MUSK):c.2433C>T (p.Val811=) rs761652640 0.00001
NM_005592.4(MUSK):c.57C>T (p.Ser19=) rs750615817 0.00001
NM_005592.4(MUSK):c.951C>T (p.Cys317=) rs1311522447 0.00001
NM_005677.4(COLQ):c.1116C>T (p.His372=) rs759169923 0.00001
NM_005677.4(COLQ):c.1185C>T (p.Asp395=) rs548322139 0.00001
NM_005677.4(COLQ):c.1196-16C>T rs1360920116 0.00001
NM_005677.4(COLQ):c.1299-5C>T rs1036242028 0.00001
NM_005677.4(COLQ):c.1350C>T (p.Pro450=) rs747648795 0.00001
NM_005677.4(COLQ):c.165G>A (p.Thr55=) rs777613214 0.00001
NM_005677.4(COLQ):c.180A>G (p.Pro60=) rs750564606 0.00001
NM_005677.4(COLQ):c.276G>A (p.Pro92=) rs753997328 0.00001
NM_005677.4(COLQ):c.321+16C>T rs772748231 0.00001
NM_005677.4(COLQ):c.357G>A (p.Lys119=) rs771988325 0.00001
NM_005677.4(COLQ):c.402T>C (p.Pro134=) rs766356664 0.00001
NM_005677.4(COLQ):c.432G>A (p.Gly144=) rs993225440 0.00001
NM_005677.4(COLQ):c.450C>T (p.Gly150=) rs771279997 0.00001
NM_005677.4(COLQ):c.60C>T (p.Ile20=) rs773097270 0.00001
NM_005677.4(COLQ):c.718-11C>A rs779127197 0.00001
NM_005677.4(COLQ):c.718-5G>A rs748890722 0.00001
NM_005677.4(COLQ):c.729G>A (p.Gly243=) rs941592757 0.00001
NM_005677.4(COLQ):c.810T>G (p.Pro270=) rs1379560902 0.00001
NM_005677.4(COLQ):c.955-6T>C rs372534357 0.00001
NM_020549.5(CHAT):c.1044T>A (p.Pro348=) rs200009054 0.00001
NM_020549.5(CHAT):c.1098G>A (p.Thr366=) rs780860401 0.00001
NM_020549.5(CHAT):c.1281+7C>T rs776458664 0.00001
NM_020549.5(CHAT):c.1320C>T (p.Cys440=) rs766466820 0.00001
NM_020549.5(CHAT):c.1434C>T (p.Pro478=) rs1322638546 0.00001
NM_020549.5(CHAT):c.1485A>G (p.Leu495=) rs151031033 0.00001
NM_020549.5(CHAT):c.1497A>G (p.Ala499=) rs752844751 0.00001
NM_020549.5(CHAT):c.1511+11C>T rs746929234 0.00001
NM_020549.5(CHAT):c.1512-15C>T rs757451959 0.00001
NM_020549.5(CHAT):c.1530C>T (p.Asp510=) rs558298529 0.00001
NM_020549.5(CHAT):c.1662C>T (p.Tyr554=) rs145370753 0.00001
NM_020549.5(CHAT):c.180C>T (p.His60=) rs991244716 0.00001
NM_020549.5(CHAT):c.1839+10G>A rs570678896 0.00001
NM_020549.5(CHAT):c.1839+9C>T rs777285888 0.00001
NM_020549.5(CHAT):c.1968C>T (p.Ser656=) rs1303365039 0.00001
NM_020549.5(CHAT):c.198C>T (p.Arg66=) rs1230433889 0.00001
NM_020549.5(CHAT):c.201C>T (p.Pro67=) rs978684444 0.00001
NM_020549.5(CHAT):c.2049C>T (p.Asn683=) rs758454149 0.00001
NM_020549.5(CHAT):c.2112T>C (p.Ser704=) rs1316813571 0.00001
NM_020549.5(CHAT):c.222C>T (p.Thr74=) rs767600029 0.00001
NM_020549.5(CHAT):c.24G>A (p.Lys8=) rs1444707075 0.00001
NM_020549.5(CHAT):c.276G>C (p.Pro92=) rs745665140 0.00001
NM_020549.5(CHAT):c.287-16A>T rs1289534650 0.00001
NM_020549.5(CHAT):c.357G>A (p.Met119Ile) rs759310217 0.00001
NM_020549.5(CHAT):c.393G>T (p.Leu131=) rs769827861 0.00001
NM_020549.5(CHAT):c.528C>T (p.Gly176=) rs778476300 0.00001
NM_020549.5(CHAT):c.534C>T (p.Thr178=) rs1838639286 0.00001
NM_020549.5(CHAT):c.54G>A (p.Lys18=) rs1237220229 0.00001
NM_020549.5(CHAT):c.580-6C>T rs749162949 0.00001
NM_020549.5(CHAT):c.618C>T (p.Asn206=) rs775282060 0.00001
NM_020549.5(CHAT):c.657C>A (p.Ile219=) rs1280679259 0.00001
NM_020549.5(CHAT):c.798G>A (p.Gln266=) rs142237923 0.00001
NM_020549.5(CHAT):c.843G>C (p.Arg281=) rs768892260 0.00001
NM_020549.5(CHAT):c.849C>T (p.Pro283=) rs1342051924 0.00001
NM_021815.5(SLC5A7):c.1026T>C (p.Ala342=) rs745405514 0.00001
NM_021815.5(SLC5A7):c.1242C>T (p.Tyr414=) rs771422735 0.00001
NM_021815.5(SLC5A7):c.1302G>C (p.Gly434=) rs767552380 0.00001
NM_021815.5(SLC5A7):c.1305C>T (p.Ala435=) rs750258339 0.00001
NM_021815.5(SLC5A7):c.1360C>T (p.Leu454=) rs868433113 0.00001
NM_021815.5(SLC5A7):c.1362G>A (p.Leu454=) rs561099749 0.00001
NM_021815.5(SLC5A7):c.138C>T (p.Gly46=) rs776077643 0.00001
NM_021815.5(SLC5A7):c.1602T>C (p.Asn534=) rs772245675 0.00001
NM_021815.5(SLC5A7):c.1716G>T (p.Gly572=) rs1025757053 0.00001
NM_021815.5(SLC5A7):c.192A>T (p.Gly64=) rs773790295 0.00001
NM_021815.5(SLC5A7):c.207T>C (p.Asn69=) rs1677475501 0.00001
NM_021815.5(SLC5A7):c.292+11G>A rs777715689 0.00001
NM_021815.5(SLC5A7):c.321T>C (p.Arg107=) rs759885480 0.00001
NM_021815.5(SLC5A7):c.393T>C (p.Phe131=) rs1425880594 0.00001
NM_021815.5(SLC5A7):c.449-14C>T rs1168011809 0.00001
NM_021815.5(SLC5A7):c.504T>C (p.Ser168=) rs752342608 0.00001
NM_021815.5(SLC5A7):c.645C>A (p.Ile215=) rs1392135172 0.00001
NM_021815.5(SLC5A7):c.711C>G (p.Val237=) rs1305450818 0.00001
NM_021815.5(SLC5A7):c.729T>C (p.Ser243=) rs972194774 0.00001
NM_021815.5(SLC5A7):c.741+11C>G rs781484974 0.00001
NM_021815.5(SLC5A7):c.741+12T>C rs745918946 0.00001
NM_021815.5(SLC5A7):c.742-19C>A rs758950508 0.00001
NM_021815.5(SLC5A7):c.742-7C>T rs367795192 0.00001
NM_021815.5(SLC5A7):c.765A>G (p.Gln255=) rs1354576821 0.00001
NM_021815.5(SLC5A7):c.792T>A (p.Ser264=) rs199981715 0.00001
NM_021815.5(SLC5A7):c.837C>T (p.Phe279=) rs369809428 0.00001
NM_021815.5(SLC5A7):c.84A>G (p.Arg28=) rs202046349 0.00001
NM_021815.5(SLC5A7):c.864C>G (p.Ala288=) rs1380320655 0.00001
NM_021815.5(SLC5A7):c.978T>C (p.Tyr326=) rs542281272 0.00001
NM_033087.4(ALG2):c.1020A>G (p.Pro340=) rs762693196 0.00001
NM_033087.4(ALG2):c.1098G>A (p.Pro366=) rs562373747 0.00001
NM_033087.4(ALG2):c.117G>A (p.Ala39=) rs1353112014 0.00001
NM_033087.4(ALG2):c.12G>A (p.Glu4=) rs1036766977 0.00001
NM_033087.4(ALG2):c.183C>T (p.Ala61=) rs755793459 0.00001
NM_033087.4(ALG2):c.192C>T (p.Arg64=) rs367616427 0.00001
NM_033087.4(ALG2):c.198A>G (p.Leu66=) rs374316187 0.00001
NM_033087.4(ALG2):c.303G>A (p.Val101=) rs371910648 0.00001
NM_033087.4(ALG2):c.304C>T (p.Leu102=) rs749236548 0.00001
NM_033087.4(ALG2):c.33G>A (p.Ser11=) rs775776287 0.00001
NM_033087.4(ALG2):c.375G>A (p.Arg125=) rs1270655898 0.00001
NM_033087.4(ALG2):c.39C>G (p.Pro13=) rs746087117 0.00001
NM_033087.4(ALG2):c.402A>G (p.Leu134=) rs772364404 0.00001
NM_033087.4(ALG2):c.48G>C (p.Ser16=) rs199752563 0.00001
NM_033087.4(ALG2):c.571C>T (p.Leu191=) rs1828740241 0.00001
NM_033087.4(ALG2):c.663C>T (p.Pro221=) rs201126562 0.00001
NM_033087.4(ALG2):c.690C>T (p.Ser230=) rs368526201 0.00001
NM_033087.4(ALG2):c.699A>G (p.Arg233=) rs746932585 0.00001
NM_033087.4(ALG2):c.702C>T (p.Tyr234=) rs370457158 0.00001
NM_033087.4(ALG2):c.70C>T (p.Leu24=) rs143683491 0.00001
NM_033087.4(ALG2):c.894C>G (p.Thr298=) rs758885892 0.00001
NM_033087.4(ALG2):c.936C>T (p.Leu312=) rs753807667 0.00001
NM_130811.4(SNAP25):c.114+7A>G rs2063714956 0.00001
NM_130811.4(SNAP25):c.115-12A>G rs774171317 0.00001
NM_130811.4(SNAP25):c.164-4T>C rs138078125 0.00001
NM_130811.4(SNAP25):c.394G>A (p.Gly132Ser) rs202003366 0.00001
NM_130811.4(SNAP25):c.407+12G>A rs752421716 0.00001
NM_130811.4(SNAP25):c.514G>A (p.Asp172Asn) rs763898355 0.00001
NM_130811.4(SNAP25):c.553-13C>T rs1568634670 0.00001
NM_130811.4(SNAP25):c.69T>C (p.Asp23=) rs1278243837 0.00001
NM_130811.4(SNAP25):c.72+13G>A rs752643793 0.00001
NM_130811.4(SNAP25):c.89G>A (p.Arg30His) rs577791521 0.00001
NM_144988.4(ALG14):c.421-6T>C rs764786734 0.00001
NM_144988.4(ALG14):c.432C>T (p.Asn144=) rs372801574 0.00001
NM_144988.4(ALG14):c.513C>T (p.Tyr171=) rs145148882 0.00001
NM_144988.4(ALG14):c.546C>T (p.Ser182=) rs199846785 0.00001
NM_173660.5(DOK7):c.100+18G>A rs1361843879 0.00001
NM_173660.5(DOK7):c.1056C>T (p.Leu352=) rs751252312 0.00001
NM_173660.5(DOK7):c.1092G>T (p.Arg364=) rs767282152 0.00001
NM_173660.5(DOK7):c.109C>T (p.Leu37=) rs1283794146 0.00001
NM_173660.5(DOK7):c.1158C>T (p.Cys386=) rs770365337 0.00001
NM_173660.5(DOK7):c.1191G>C (p.Val397=) rs781489489 0.00001
NM_173660.5(DOK7):c.1227C>T (p.Arg409=) rs762828158 0.00001
NM_173660.5(DOK7):c.12G>A (p.Ala4=) rs1202693776 0.00001
NM_173660.5(DOK7):c.1347G>A (p.Thr449=) rs776624533 0.00001
NM_173660.5(DOK7):c.1360C>T (p.Leu454=) rs1231920444 0.00001
NM_173660.5(DOK7):c.1401T>C (p.Pro467=) rs764419050 0.00001
NM_173660.5(DOK7):c.1443C>T (p.His481=) rs749462644 0.00001
NM_173660.5(DOK7):c.1446G>A (p.Ala482=) rs773592493 0.00001
NM_173660.5(DOK7):c.1452A>G (p.Pro484=) rs1462346774 0.00001
NM_173660.5(DOK7):c.1482C>T (p.Val494=) rs771501211 0.00001
NM_173660.5(DOK7):c.193C>T (p.Leu65=) rs546630800 0.00001
NM_173660.5(DOK7):c.408T>C (p.Asp136=) rs1219485664 0.00001
NM_173660.5(DOK7):c.429C>T (p.Asp143=) rs747023250 0.00001
NM_173660.5(DOK7):c.438G>C (p.Pro146=) rs776760690 0.00001
NM_173660.5(DOK7):c.495C>T (p.Ser165=) rs1405222108 0.00001
NM_173660.5(DOK7):c.579C>T (p.Ser193=) rs766358840 0.00001
NM_173660.5(DOK7):c.663C>G (p.Pro221=) rs914998338 0.00001
NM_173660.5(DOK7):c.666G>A (p.Pro222=) rs756895721 0.00001
NM_173660.5(DOK7):c.675G>A (p.Ser225=) rs780065823 0.00001
NM_173660.5(DOK7):c.759G>A (p.Arg253=) rs759824901 0.00001
NM_173660.5(DOK7):c.762G>A (p.Pro254=) rs763623892 0.00001
NM_173660.5(DOK7):c.772+9G>A rs778823411 0.00001
NM_173660.5(DOK7):c.849A>G (p.Ala283=) rs756234763 0.00001
NM_173660.5(DOK7):c.945A>C (p.Ser315=) rs757723197 0.00001
NM_198576.4(AGRN):c.1038C>T (p.Pro346=) rs768351523 0.00001
NM_198576.4(AGRN):c.1062G>A (p.Ala354=) rs765349974 0.00001
NM_198576.4(AGRN):c.1089C>T (p.Thr363=) rs779950946 0.00001
NM_198576.4(AGRN):c.1113C>A (p.Gly371=) rs771600667 0.00001
NM_198576.4(AGRN):c.1137C>T (p.Leu379=) rs1404751859 0.00001
NM_198576.4(AGRN):c.1177+12C>T rs1213787315 0.00001
NM_198576.4(AGRN):c.1177+15C>T rs770405970 0.00001
NM_198576.4(AGRN):c.1185C>T (p.Cys395=) rs1644954742 0.00001
NM_198576.4(AGRN):c.1221C>A (p.Ser407=) rs1290178251 0.00001
NM_198576.4(AGRN):c.1266C>T (p.Asp422=) rs771165998 0.00001
NM_198576.4(AGRN):c.1384+12G>A rs750678456 0.00001
NM_198576.4(AGRN):c.1410G>A (p.Gly470=) rs371755962 0.00001
NM_198576.4(AGRN):c.1479G>A (p.Ala493=) rs756019159 0.00001
NM_198576.4(AGRN):c.1512C>T (p.Ser504=) rs527601442 0.00001
NM_198576.4(AGRN):c.1527C>T (p.Tyr509=) rs766287924 0.00001
NM_198576.4(AGRN):c.1719G>A (p.Thr573=) rs150246085 0.00001
NM_198576.4(AGRN):c.1926C>T (p.Ala642=) rs1412601608 0.00001
NM_198576.4(AGRN):c.1947C>T (p.Ala649=) rs1645019966 0.00001
NM_198576.4(AGRN):c.1999+14C>T rs781183868 0.00001
NM_198576.4(AGRN):c.2000-4G>A rs371316293 0.00001
NM_198576.4(AGRN):c.2000-5C>T rs757769063 0.00001
NM_198576.4(AGRN):c.2001C>T (p.Ala667=) rs756204860 0.00001
NM_198576.4(AGRN):c.202-17C>T rs1036873472 0.00001
NM_198576.4(AGRN):c.2037C>T (p.Asp679=) rs780169210 0.00001
NM_198576.4(AGRN):c.2142C>G (p.Gly714=) rs372705597 0.00001
NM_198576.4(AGRN):c.2220A>T (p.Arg740=) rs746221151 0.00001
NM_198576.4(AGRN):c.2223G>C (p.Gly741=) rs763474149 0.00001
NM_198576.4(AGRN):c.2254+20G>A rs749805082 0.00001
NM_198576.4(AGRN):c.2254+8G>A rs779212624 0.00001
NM_198576.4(AGRN):c.2307G>A (p.Thr769=) rs1475721760 0.00001
NM_198576.4(AGRN):c.2355C>T (p.Gly785=) rs1447389396 0.00001
NM_198576.4(AGRN):c.246G>A (p.Arg82=) rs1408540234 0.00001
NM_198576.4(AGRN):c.2499T>C (p.Phe833=) rs753858864 0.00001
NM_198576.4(AGRN):c.2536+13G>A rs761238201 0.00001
NM_198576.4(AGRN):c.2589G>A (p.Thr863=) rs776485359 0.00001
NM_198576.4(AGRN):c.2680+17G>A rs747171342 0.00001
NM_198576.4(AGRN):c.2681-9G>A rs749091157 0.00001
NM_198576.4(AGRN):c.2691G>A (p.Ala897=) rs760197095 0.00001
NM_198576.4(AGRN):c.2736C>T (p.Cys912=) rs141587982 0.00001
NM_198576.4(AGRN):c.2806-12T>C rs1570221858 0.00001
NM_198576.4(AGRN):c.2848C>T (p.Leu950=) rs368017102 0.00001
NM_198576.4(AGRN):c.2898G>A (p.Leu966=) rs778480989 0.00001
NM_198576.4(AGRN):c.3087C>T (p.Ser1029=) rs767290327 0.00001
NM_198576.4(AGRN):c.3111C>T (p.Pro1037=) rs755437030 0.00001
NM_198576.4(AGRN):c.3234T>C (p.Ser1078=) rs777419195 0.00001
NM_198576.4(AGRN):c.3243C>T (p.Gly1081=) rs746454531 0.00001
NM_198576.4(AGRN):c.3251-10G>A rs368963266 0.00001
NM_198576.4(AGRN):c.3251-12G>A rs1275988882 0.00001
NM_198576.4(AGRN):c.3255C>T (p.Leu1085=) rs775823409 0.00001
NM_198576.4(AGRN):c.3267G>A (p.Glu1089=) rs1423533978 0.00001
NM_198576.4(AGRN):c.3328T>C (p.Leu1110=) rs1297179716 0.00001
NM_198576.4(AGRN):c.3348G>A (p.Gly1116=) rs139977979 0.00001
NM_198576.4(AGRN):c.3360G>A (p.Ser1120=) rs772110038 0.00001
NM_198576.4(AGRN):c.3438G>A (p.Gln1146=) rs761696738 0.00001
NM_198576.4(AGRN):c.3517-18G>C rs886429179 0.00001
NM_198576.4(AGRN):c.3546C>T (p.Val1182=) rs1557712957 0.00001
NM_198576.4(AGRN):c.3603C>T (p.Arg1201=) rs749229259 0.00001
NM_198576.4(AGRN):c.3651C>T (p.Pro1217=) rs777055497 0.00001
NM_198576.4(AGRN):c.3693G>A (p.Arg1231=) rs1356719781 0.00001
NM_198576.4(AGRN):c.3750T>C (p.Phe1250=) rs138818746 0.00001
NM_198576.4(AGRN):c.3751+19G>A rs779240198 0.00001
NM_198576.4(AGRN):c.3762T>C (p.Pro1254=) rs1645150923 0.00001
NM_198576.4(AGRN):c.3783G>A (p.Thr1261=) rs376408361 0.00001
NM_198576.4(AGRN):c.3834C>T (p.Arg1278=) rs768567036 0.00001
NM_198576.4(AGRN):c.3840G>A (p.Pro1280=) rs768974182 0.00001
NM_198576.4(AGRN):c.4074G>A (p.Pro1358=) rs779057526 0.00001
NM_198576.4(AGRN):c.4221G>A (p.Gly1407=) rs770216741 0.00001
NM_198576.4(AGRN):c.4233C>T (p.Tyr1411=) rs147664394 0.00001
NM_198576.4(AGRN):c.4261C>T (p.Leu1421=) rs1192631612 0.00001
NM_198576.4(AGRN):c.4267T>C (p.Leu1423=) rs752281378 0.00001
NM_198576.4(AGRN):c.4299-11C>T rs1434434568 0.00001
NM_198576.4(AGRN):c.4299-6C>T rs1449412827 0.00001
NM_198576.4(AGRN):c.4386C>T (p.His1462=) rs1158934281 0.00001
NM_198576.4(AGRN):c.4395G>C (p.Arg1465=) rs766000174 0.00001
NM_198576.4(AGRN):c.4407G>A (p.Ser1469=) rs1292243937 0.00001
NM_198576.4(AGRN):c.441G>A (p.Glu147=) rs763121838 0.00001
NM_198576.4(AGRN):c.4470C>T (p.Asp1490=) rs547462192 0.00001
NM_198576.4(AGRN):c.4473A>C (p.Thr1491=) rs763563403 0.00001
NM_198576.4(AGRN):c.4491C>T (p.Gly1497=) rs1006659162 0.00001
NM_198576.4(AGRN):c.4512C>T (p.Ala1504=) rs759230236 0.00001
NM_198576.4(AGRN):c.463+18C>T rs376022027 0.00001
NM_198576.4(AGRN):c.4660C>T (p.Leu1554=) rs1463712199 0.00001
NM_198576.4(AGRN):c.4725G>A (p.Gln1575=) rs763693142 0.00001
NM_198576.4(AGRN):c.4728C>T (p.Cys1576=) rs931498089 0.00001
NM_198576.4(AGRN):c.4827T>C (p.Gly1609=) rs759945596 0.00001
NM_198576.4(AGRN):c.483C>T (p.Phe161=) rs192831476 0.00001
NM_198576.4(AGRN):c.4879+13G>A rs1426872282 0.00001
NM_198576.4(AGRN):c.4879+16C>T rs1370470031 0.00001
NM_198576.4(AGRN):c.4879+8G>A rs1410342207 0.00001
NM_198576.4(AGRN):c.4956C>T (p.His1652=) rs1365687266 0.00001
NM_198576.4(AGRN):c.5055C>T (p.Asp1685=) rs766955342 0.00001
NM_198576.4(AGRN):c.5091C>T (p.Asp1697=) rs1354093526 0.00001
NM_198576.4(AGRN):c.5097C>T (p.Arg1699=) rs1401109891 0.00001
NM_198576.4(AGRN):c.5142-19C>T rs370941734 0.00001
NM_198576.4(AGRN):c.5160C>T (p.Thr1720=) rs758276484 0.00001
NM_198576.4(AGRN):c.5163G>T (p.Leu1721=) rs146855689 0.00001
NM_198576.4(AGRN):c.5253+7G>A rs767071621 0.00001
NM_198576.4(AGRN):c.5254-8C>T rs369911069 0.00001
NM_198576.4(AGRN):c.5265C>T (p.Thr1755=) rs773071527 0.00001
NM_198576.4(AGRN):c.528G>C (p.Leu176=) rs1045582777 0.00001
NM_198576.4(AGRN):c.5371-5T>C rs1361101124 0.00001
NM_198576.4(AGRN):c.5385C>T (p.Gly1795=) rs1375097481 0.00001
NM_198576.4(AGRN):c.5413C>T (p.Leu1805=) rs751461791 0.00001
NM_198576.4(AGRN):c.54G>C (p.Val18=) rs901063398 0.00001
NM_198576.4(AGRN):c.5502G>A (p.Pro1834=) rs371302168 0.00001
NM_198576.4(AGRN):c.5564-9A>G rs1645298070 0.00001
NM_198576.4(AGRN):c.5610C>T (p.Asp1870=) rs376066449 0.00001
NM_198576.4(AGRN):c.5646C>T (p.Thr1882=) rs577578019 0.00001
NM_198576.4(AGRN):c.5778G>A (p.Gly1926=) rs767514639 0.00001
NM_198576.4(AGRN):c.5811G>A (p.Gln1937=) rs1212454305 0.00001
NM_198576.4(AGRN):c.5865C>T (p.Val1955=) rs763082192 0.00001
NM_198576.4(AGRN):c.5876+19G>A rs201545296 0.00001
NM_198576.4(AGRN):c.5876+9G>A rs772517259 0.00001
NM_198576.4(AGRN):c.597G>A (p.Lys199=) rs772146272 0.00001
NM_198576.4(AGRN):c.5980+11T>C rs140676931 0.00001
NM_198576.4(AGRN):c.5991G>A (p.Pro1997=) rs773508939 0.00001
NM_198576.4(AGRN):c.6000C>T (p.Pro2000=) rs769653766 0.00001
NM_198576.4(AGRN):c.6024C>T (p.Ala2008=) rs1182389812 0.00001
NM_198576.4(AGRN):c.6096C>T (p.Asp2032=) rs544753386 0.00001
NM_198576.4(AGRN):c.651C>T (p.Tyr217=) rs1235929400 0.00001
NM_198576.4(AGRN):c.708G>A (p.Leu236=) rs755871141 0.00001
NM_198576.4(AGRN):c.727+7G>C rs772521361 0.00001
NM_198576.4(AGRN):c.728-8G>T rs1172674191 0.00001
NM_198576.4(AGRN):c.849C>T (p.Thr283=) rs1405014962 0.00001
NM_198576.4(AGRN):c.894C>T (p.Leu298=) rs1251452652 0.00001
NM_198576.4(AGRN):c.933G>A (p.Lys311=) rs781177256 0.00001
NM_198576.4(AGRN):c.952+20C>T rs749460152 0.00001
NM_000080.4(CHRNE):c.1011C>T (p.Ala337=) rs1555546423
NM_000080.4(CHRNE):c.1017C>T (p.Ser339=) rs114454383
NM_000080.4(CHRNE):c.1019C>T (p.Pro340Leu) rs139922367
NM_000080.4(CHRNE):c.1020G>A (p.Pro340=)
NM_000080.4(CHRNE):c.1023G>T (p.Arg341=)
NM_000080.4(CHRNE):c.1026G>T (p.Leu342=) rs2151095114
NM_000080.4(CHRNE):c.1032+10G>A rs2151095067
NM_000080.4(CHRNE):c.1032+10G>C
NM_000080.4(CHRNE):c.1032+11A>G
NM_000080.4(CHRNE):c.1032+12G>A
NM_000080.4(CHRNE):c.1032+12_1032+13insC
NM_000080.4(CHRNE):c.1032+13G>C
NM_000080.4(CHRNE):c.1032+14G>A
NM_000080.4(CHRNE):c.1032+14G>C
NM_000080.4(CHRNE):c.1032+18G>A
NM_000080.4(CHRNE):c.1032+20T>G
NM_000080.4(CHRNE):c.1032+7G>A
NM_000080.4(CHRNE):c.1032+9G>C
NM_000080.4(CHRNE):c.1032+9G>T rs752020505
NM_000080.4(CHRNE):c.1033-11C>T
NM_000080.4(CHRNE):c.1033-12C>A
NM_000080.4(CHRNE):c.1033-13G>A
NM_000080.4(CHRNE):c.1033-13G>T
NM_000080.4(CHRNE):c.1033-18GCCCC[3] rs1555546374
NM_000080.4(CHRNE):c.1033-22_1033-9dup rs764991750
NM_000080.4(CHRNE):c.1033-3_1033-2insGCCCCTGCCCCT rs761361955
NM_000080.4(CHRNE):c.1033-4C>A rs1046859320
NM_000080.4(CHRNE):c.1033-5C>T rs928738409
NM_000080.4(CHRNE):c.1033-8_1033-3dup rs761361955
NM_000080.4(CHRNE):c.1038C>A (p.Leu346=)
NM_000080.4(CHRNE):c.1038C>T (p.Leu346=) rs1275628199
NM_000080.4(CHRNE):c.1039C>T (p.Leu347=)
NM_000080.4(CHRNE):c.1045C>T (p.Leu349=)
NM_000080.4(CHRNE):c.1056C>A (p.Arg352=) rs558633663
NM_000080.4(CHRNE):c.105T>C (p.Tyr35=) rs2151098928
NM_000080.4(CHRNE):c.1068C>A (p.Ser356=)
NM_000080.4(CHRNE):c.1080C>T (p.Pro360=) rs886042727
NM_000080.4(CHRNE):c.1086C>T (p.Ala362=) rs1213521480
NM_000080.4(CHRNE):c.108C>T (p.Asp36=)
NM_000080.4(CHRNE):c.1090C>A (p.Arg364=)
NM_000080.4(CHRNE):c.1092G>A (p.Arg364=)
NM_000080.4(CHRNE):c.1095C>T (p.Ala365=)
NM_000080.4(CHRNE):c.1098C>A (p.Ala366=) rs778313885
NM_000080.4(CHRNE):c.1101G>A (p.Ser367=)
NM_000080.4(CHRNE):c.1101G>C (p.Ser367=) rs1969857597
NM_000080.4(CHRNE):c.1104C>A (p.Pro368=) rs767374241
NM_000080.4(CHRNE):c.1108A>C (p.Arg370=)
NM_000080.4(CHRNE):c.1111C>A (p.Arg371=)
NM_000080.4(CHRNE):c.1116G>A (p.Ala372=) rs1226276974
NM_000080.4(CHRNE):c.1119G>A (p.Ser373=) rs372862723
NM_000080.4(CHRNE):c.1119G>C (p.Ser373=) rs372862723
NM_000080.4(CHRNE):c.1122G>C (p.Ser374=)
NM_000080.4(CHRNE):c.1129T>C (p.Leu377=)
NM_000080.4(CHRNE):c.1134G>A (p.Leu378=)
NM_000080.4(CHRNE):c.1137C>T (p.Leu379=) rs368940455
NM_000080.4(CHRNE):c.1140C>T (p.Arg380=)
NM_000080.4(CHRNE):c.1143G>C (p.Ala381=)
NM_000080.4(CHRNE):c.1150C>T (p.Leu384=)
NM_000080.4(CHRNE):c.1155A>T (p.Ile385=)
NM_000080.4(CHRNE):c.1158G>A (p.Leu386=)
NM_000080.4(CHRNE):c.1161A>G (p.Lys387=) rs2151094537
NM_000080.4(CHRNE):c.1164G>A (p.Lys388=)
NM_000080.4(CHRNE):c.1167A>G (p.Pro389=) rs1211648043
NM_000080.4(CHRNE):c.1168C>A (p.Arg390=) rs140763858
NM_000080.4(CHRNE):c.1170G>A (p.Arg390=)
NM_000080.4(CHRNE):c.1173C>A (p.Ser391Arg) rs146921234
NM_000080.4(CHRNE):c.1173C>T (p.Ser391=) rs146921234
NM_000080.4(CHRNE):c.1176G>A (p.Glu392=) rs768670572
NM_000080.4(CHRNE):c.1179C>A (p.Leu393=)
NM_000080.4(CHRNE):c.1179C>G (p.Leu393=) rs1159106476
NM_000080.4(CHRNE):c.1179C>T (p.Leu393=)
NM_000080.4(CHRNE):c.117C>T (p.Ser39=) rs1970031660
NM_000080.4(CHRNE):c.1185T>C (p.Phe395=)
NM_000080.4(CHRNE):c.1188G>A (p.Glu396=)
NM_000080.4(CHRNE):c.1191G>T (p.Gly397=)
NM_000080.4(CHRNE):c.1200C>T (p.His400=) rs2151094448
NM_000080.4(CHRNE):c.1203G>A (p.Arg401=) rs1969848614
NM_000080.4(CHRNE):c.1203G>C (p.Arg401=)
NM_000080.4(CHRNE):c.1209G>A (p.Gly403=) rs1414430330
NM_000080.4(CHRNE):c.1212C>A (p.Thr404=)
NM_000080.4(CHRNE):c.1212C>T (p.Thr404=) rs1300177355
NM_000080.4(CHRNE):c.1218G>A (p.Thr406=) rs751373916
NM_000080.4(CHRNE):c.1219+12G>A
NM_000080.4(CHRNE):c.1219+15C>T
NM_000080.4(CHRNE):c.1219+16C>T
NM_000080.4(CHRNE):c.1219+17T>C
NM_000080.4(CHRNE):c.1219+17T>G
NM_000080.4(CHRNE):c.1219+19G>T
NM_000080.4(CHRNE):c.1219+20C>T
NM_000080.4(CHRNE):c.1219+23G>A
NM_000080.4(CHRNE):c.1219+5_1219+6dup
NM_000080.4(CHRNE):c.1219+8C>G rs1474684898
NM_000080.4(CHRNE):c.1219+8C>T
NM_000080.4(CHRNE):c.1219+8dup
NM_000080.4(CHRNE):c.1220-14G>A
NM_000080.4(CHRNE):c.1220-14_1220-3dup
NM_000080.4(CHRNE):c.1220-15T>C
NM_000080.4(CHRNE):c.1220-16G>A
NM_000080.4(CHRNE):c.1220-18C>T
NM_000080.4(CHRNE):c.1220-19C>A
NM_000080.4(CHRNE):c.1220-20C>A
NM_000080.4(CHRNE):c.1220-4C>A
NM_000080.4(CHRNE):c.1220-4C>G rs201553105
NM_000080.4(CHRNE):c.1220-5G>T
NM_000080.4(CHRNE):c.1220-6C>G
NM_000080.4(CHRNE):c.1220-7C>G
NM_000080.4(CHRNE):c.1220-9C>G rs748607118
NM_000080.4(CHRNE):c.1233G>A (p.Gln411=) rs2151094069
NM_000080.4(CHRNE):c.1236C>T (p.Ser412=)
NM_000080.4(CHRNE):c.1239G>C (p.Leu413=) rs1969839608
NM_000080.4(CHRNE):c.1239G>T (p.Leu413=)
NM_000080.4(CHRNE):c.1242C>A (p.Gly414=) rs370770111
NM_000080.4(CHRNE):c.1242C>G (p.Gly414=)
NM_000080.4(CHRNE):c.1242C>T (p.Gly414=) rs370770111
NM_000080.4(CHRNE):c.1248C>T (p.Ala416=) rs966410323
NM_000080.4(CHRNE):c.1251C>A (p.Ala417=)
NM_000080.4(CHRNE):c.1251C>T (p.Ala417=) rs2151094028
NM_000080.4(CHRNE):c.1254C>G (p.Pro418=)
NM_000080.4(CHRNE):c.1257G>A (p.Glu419=)
NM_000080.4(CHRNE):c.1266C>T (p.Cys422=) rs994146259
NM_000080.4(CHRNE):c.126G>A (p.Val42=)
NM_000080.4(CHRNE):c.1281G>A (p.Val427=) rs2151093968
NM_000080.4(CHRNE):c.1302G>A (p.Thr434=)
NM_000080.4(CHRNE):c.1308T>C (p.Asp436=)
NM_000080.4(CHRNE):c.1311G>A (p.Gln437=)
NM_000080.4(CHRNE):c.1317C>T (p.Ala439=)
NM_000080.4(CHRNE):c.1320C>A (p.Thr440=) rs1292101958
NM_000080.4(CHRNE):c.1326+13_1326+32del rs780277856
NM_000080.4(CHRNE):c.1326+14C>T
NM_000080.4(CHRNE):c.1326+18G>A
NM_000080.4(CHRNE):c.1326+20C>A
NM_000080.4(CHRNE):c.1326+7C>T
NM_000080.4(CHRNE):c.1327-14C>G
NM_000080.4(CHRNE):c.1327-14C>T
NM_000080.4(CHRNE):c.1327-17_1327-16del rs774197166
NM_000080.4(CHRNE):c.1327-18G>C
NM_000080.4(CHRNE):c.1327-4C>G rs2151093603
NM_000080.4(CHRNE):c.1327-5C>A rs2151093607
NM_000080.4(CHRNE):c.1327-5C>T rs2151093607
NM_000080.4(CHRNE):c.1327-6C>T
NM_000080.4(CHRNE):c.1329A>G (p.Glu443=)
NM_000080.4(CHRNE):c.132G>A (p.Glu44=) rs2151098887
NM_000080.4(CHRNE):c.1335C>A (p.Ser445=) rs753202734
NM_000080.4(CHRNE):c.1335C>G (p.Ser445=) rs753202734
NM_000080.4(CHRNE):c.1338C>T (p.Asp446=)
NM_000080.4(CHRNE):c.1344G>A (p.Val448=) rs143098859
NM_000080.4(CHRNE):c.1344G>C (p.Val448=) rs143098859
NM_000080.4(CHRNE):c.1362T>C (p.Leu454=)
NM_000080.4(CHRNE):c.1365C>T (p.Asp455=) rs1969823137
NM_000080.4(CHRNE):c.1383C>A (p.Ala461=)
NM_000080.4(CHRNE):c.1383C>T (p.Ala461=) rs570378547
NM_000080.4(CHRNE):c.1387C>T (p.Leu463=)
NM_000080.4(CHRNE):c.138G>A (p.Glu46=) rs2151098883
NM_000080.4(CHRNE):c.1401C>T (p.Ser467=)
NM_000080.4(CHRNE):c.1402G>A (p.Val468Met) rs139171143
NM_000080.4(CHRNE):c.1402G>C (p.Val468Leu) rs139171143
NM_000080.4(CHRNE):c.1404G>C (p.Val468=)
NM_000080.4(CHRNE):c.1410C>T (p.Ser470=) rs2151093451
NM_000080.4(CHRNE):c.1419C>T (p.Ile473=)
NM_000080.4(CHRNE):c.141T>C (p.Asp47=)
NM_000080.4(CHRNE):c.1428G>T (p.Gly476=)
NM_000080.4(CHRNE):c.1434C>T (p.Tyr478=) rs763943642
NM_000080.4(CHRNE):c.1443A>C (p.Arg481=) rs2151093399
NM_000080.4(CHRNE):c.1467G>T (p.Pro489=) rs950225592
NM_000080.4(CHRNE):c.1473C>T (p.Ile491=)
NM_000080.4(CHRNE):c.1479T>G (p.Pro493=)
NM_000080.4(CHRNE):c.147C>T (p.Val49=)
NM_000080.4(CHRNE):c.150C>T (p.Thr50=) rs2151098879
NM_000080.4(CHRNE):c.159C>G (p.Leu53=)
NM_000080.4(CHRNE):c.159C>T (p.Leu53=) rs1970030477
NM_000080.4(CHRNE):c.177T>C (p.Asn59=)
NM_000080.4(CHRNE):c.186A>G (p.Ser62=)
NM_000080.4(CHRNE):c.207T>A (p.Thr69=)
NM_000080.4(CHRNE):c.210C>G (p.Leu70=) rs750125430
NM_000080.4(CHRNE):c.210C>T (p.Leu70=) rs750125430
NM_000080.4(CHRNE):c.213C>T (p.Thr71=) rs764949297
NM_000080.4(CHRNE):c.216T>G (p.Thr72=)
NM_000080.4(CHRNE):c.21G>C (p.Gly7=)
NM_000080.4(CHRNE):c.21G>T (p.Gly7=) rs1166759787
NM_000080.4(CHRNE):c.24C>A (p.Val8=) rs147811172
NM_000080.4(CHRNE):c.255C>G (p.Leu85=) rs752486312
NM_000080.4(CHRNE):c.255C>T (p.Leu85=)
NM_000080.4(CHRNE):c.261C>T (p.Tyr87=)
NM_000080.4(CHRNE):c.264C>T (p.Ser88=)
NM_000080.4(CHRNE):c.267G>A (p.Lys89=)
NM_000080.4(CHRNE):c.270C>T (p.Asp90=)
NM_000080.4(CHRNE):c.27G>A (p.Leu9=)
NM_000080.4(CHRNE):c.282T>C (p.Gly94=)
NM_000080.4(CHRNE):c.294G>T (p.Leu98=)
NM_000080.4(CHRNE):c.295C>A (p.Arg99=) rs1278514080
NM_000080.4(CHRNE):c.297A>C (p.Arg99=) rs2151098555
NM_000080.4(CHRNE):c.297A>G (p.Arg99=)
NM_000080.4(CHRNE):c.30C>T (p.Leu10=)
NM_000080.4(CHRNE):c.315G>A (p.Val105=) rs2151098541
NM_000080.4(CHRNE):c.333G>T (p.Val111=)
NM_000080.4(CHRNE):c.336G>A (p.Leu112=)
NM_000080.4(CHRNE):c.348T>C (p.Ile116=)
NM_000080.4(CHRNE):c.363A>G (p.Gly121=)
NM_000080.4(CHRNE):c.366G>A (p.Val122=) rs2151098392
NM_000080.4(CHRNE):c.375C>T (p.Asp125=)
NM_000080.4(CHRNE):c.381C>T (p.Asn127=)
NM_000080.4(CHRNE):c.384G>A (p.Val128=)
NM_000080.4(CHRNE):c.387C>A (p.Leu129=)
NM_000080.4(CHRNE):c.387C>G (p.Leu129=) rs767908282
NM_000080.4(CHRNE):c.387C>T (p.Leu129=) rs767908282
NM_000080.4(CHRNE):c.390C>T (p.Val130=)
NM_000080.4(CHRNE):c.393C>T (p.Tyr131=) rs1567639631
NM_000080.4(CHRNE):c.399C>T (p.Gly133=)
NM_000080.4(CHRNE):c.39G>A (p.Gly13=)
NM_000080.4(CHRNE):c.410C>A (p.Thr137Lys) rs146089157
NM_000080.4(CHRNE):c.411G>A (p.Thr137=)
NM_000080.4(CHRNE):c.415C>T (p.Leu139=) rs776129600
NM_000080.4(CHRNE):c.426C>T (p.Ala142=) rs1970007044
NM_000080.4(CHRNE):c.438C>T (p.Ser146=) rs776429372
NM_000080.4(CHRNE):c.441C>T (p.Val147=) rs779058823
NM_000080.4(CHRNE):c.444C>T (p.Cys148=) rs970593355
NM_000080.4(CHRNE):c.46+11G>A
NM_000080.4(CHRNE):c.46+19G>A
NM_000080.4(CHRNE):c.46+9_46+10del rs2151099125
NM_000080.4(CHRNE):c.468C>G (p.Pro156=) rs751830305
NM_000080.4(CHRNE):c.47-11dup rs550750896
NM_000080.4(CHRNE):c.486T>C (p.Cys162=) rs2151098251
NM_000080.4(CHRNE):c.489G>A (p.Ser163=) rs2151098246
NM_000080.4(CHRNE):c.489G>T (p.Ser163=)
NM_000080.4(CHRNE):c.48C>T (p.Gly16=)
NM_000080.4(CHRNE):c.507G>A (p.Gln169=)
NM_000080.4(CHRNE):c.510G>T (p.Thr170=) rs749454549
NM_000080.4(CHRNE):c.513C>T (p.Tyr171=) rs1276027772
NM_000080.4(CHRNE):c.51G>A (p.Arg17=) rs758923058
NM_000080.4(CHRNE):c.528G>A (p.Val176=) rs2151097833
NM_000080.4(CHRNE):c.531G>A (p.Glu177=) rs1597620349
NM_000080.4(CHRNE):c.540T>C (p.Phe180=)
NM_000080.4(CHRNE):c.543C>T (p.Ala181=)
NM_000080.4(CHRNE):c.549C>T (p.Asp183=) rs2151097801
NM_000080.4(CHRNE):c.552C>T (p.Asn184=) rs978516236
NM_000080.4(CHRNE):c.558C>G (p.Gly186=) rs761643342
NM_000080.4(CHRNE):c.567C>A (p.Ile189=)
NM_000080.4(CHRNE):c.570C>T (p.Asn190=) rs1969985137
NM_000080.4(CHRNE):c.57G>A (p.Val19=)
NM_000080.4(CHRNE):c.582C>A (p.Ile194=) rs2151097756
NM_000080.4(CHRNE):c.594C>T (p.Ala198=) rs2151097737
NM_000080.4(CHRNE):c.601+8C>T rs539874157
NM_000080.4(CHRNE):c.602-10C>T rs765175027
NM_000080.4(CHRNE):c.609C>A (p.Gly203=) rs912870458
NM_000080.4(CHRNE):c.609C>G (p.Gly203=) rs912870458
NM_000080.4(CHRNE):c.609C>T (p.Gly203=)
NM_000080.4(CHRNE):c.60G>A (p.Gly20=) rs2151098969
NM_000080.4(CHRNE):c.612G>A (p.Glu204=)
NM_000080.4(CHRNE):c.621C>A (p.Ile207=) rs2151097478
NM_000080.4(CHRNE):c.621C>T (p.Ile207=) rs2151097478
NM_000080.4(CHRNE):c.630C>T (p.Cys210=)
NM_000080.4(CHRNE):c.639G>A (p.Val213=) rs1969972651
NM_000080.4(CHRNE):c.63G>A (p.Lys21=) rs2151098964
NM_000080.4(CHRNE):c.645C>T (p.Arg215=) rs2151097437
NM_000080.4(CHRNE):c.648C>T (p.Arg216=) rs2151097429
NM_000080.4(CHRNE):c.651C>T (p.His217=) rs564044217
NM_000080.4(CHRNE):c.654C>T (p.His218=) rs751388919
NM_000080.4(CHRNE):c.657T>A (p.Gly219=) rs1969971346
NM_000080.4(CHRNE):c.660C>A (p.Gly220=) rs1969971072
NM_000080.4(CHRNE):c.660C>T (p.Gly220=) rs1969971072
NM_000080.4(CHRNE):c.666C>G (p.Thr222=)
NM_000080.4(CHRNE):c.666C>T (p.Thr222=) rs1224426288
NM_000080.4(CHRNE):c.672C>A (p.Gly224=) rs2151097392
NM_000080.4(CHRNE):c.675A>G (p.Pro225=)
NM_000080.4(CHRNE):c.678G>A (p.Gly226=) rs1431059369
NM_000080.4(CHRNE):c.687C>T (p.Asp229=) rs1479728021
NM_000080.4(CHRNE):c.690C>A (p.Val230=) rs1597619417
NM_000080.4(CHRNE):c.690C>T (p.Val230=) rs1597619417
NM_000080.4(CHRNE):c.696C>T (p.Tyr232=) rs1284899632
NM_000080.4(CHRNE):c.699G>C (p.Ser233=) rs375146171
NM_000080.4(CHRNE):c.702C>A (p.Leu234=)
NM_000080.4(CHRNE):c.705C>A (p.Ile235=) rs748765369
NM_000080.4(CHRNE):c.705C>T (p.Ile235=) rs748765369
NM_000080.4(CHRNE):c.711C>T (p.Arg237=)
NM_000080.4(CHRNE):c.714G>A (p.Arg238=) rs768299579
NM_000080.4(CHRNE):c.717G>A (p.Lys239=)
NM_000080.4(CHRNE):c.720G>A (p.Pro240=)
NM_000080.4(CHRNE):c.729C>T (p.Tyr243=)
NM_000080.4(CHRNE):c.738C>T (p.Asn246=) rs2151097269
NM_000080.4(CHRNE):c.741C>T (p.Ile247=) rs1969967603
NM_000080.4(CHRNE):c.747G>C (p.Val249=)
NM_000080.4(CHRNE):c.753T>C (p.Cys251=)
NM_000080.4(CHRNE):c.759C>A (p.Leu253=) rs1969966911
NM_000080.4(CHRNE):c.75G>A (p.Leu25=) rs2151098953
NM_000080.4(CHRNE):c.765G>A (p.Ser255=)
NM_000080.4(CHRNE):c.765G>C (p.Ser255=)
NM_000080.4(CHRNE):c.769C>T (p.Leu257=)
NM_000080.4(CHRNE):c.771G>C (p.Leu257=)
NM_000080.4(CHRNE):c.775C>T (p.Leu259=) rs2151097232
NM_000080.4(CHRNE):c.77G>A (p.Arg26His) rs188661284
NM_000080.4(CHRNE):c.780C>A (p.Leu260=)
NM_000080.4(CHRNE):c.783C>T (p.Ala261=)
NM_000080.4(CHRNE):c.786C>T (p.Tyr262=) rs2151097217
NM_000080.4(CHRNE):c.789C>T (p.Phe263=) rs761487611
NM_000080.4(CHRNE):c.790C>T (p.Leu264=)
NM_000080.4(CHRNE):c.798G>A (p.Ala266=) rs746772722
NM_000080.4(CHRNE):c.798G>C (p.Ala266=) rs746772722
NM_000080.4(CHRNE):c.798G>T (p.Ala266=) rs746772722
NM_000080.4(CHRNE):c.802+9T>C rs199876621
NM_000080.4(CHRNE):c.807C>T (p.Gly269=)
NM_000080.4(CHRNE):c.816A>G (p.Lys272=)
NM_000080.4(CHRNE):c.822G>A (p.Thr274=)
NM_000080.4(CHRNE):c.825C>A (p.Val275=)
NM_000080.4(CHRNE):c.828C>T (p.Ser276=) rs1969960127
NM_000080.4(CHRNE):c.834C>T (p.Asn278=) rs996197218
NM_000080.4(CHRNE):c.838C>T (p.Leu280=) rs900612569
NM_000080.4(CHRNE):c.846C>T (p.Ala282=)
NM_000080.4(CHRNE):c.858C>T (p.Phe286=) rs1597618773
NM_000080.4(CHRNE):c.864C>T (p.Phe288=) rs1282925982
NM_000080.4(CHRNE):c.867C>T (p.Leu289=)
NM_000080.4(CHRNE):c.870T>C (p.Ile290=) rs775157123
NM_000080.4(CHRNE):c.87C>T (p.His29=) rs1567640279
NM_000080.4(CHRNE):c.885A>G (p.Pro295=) rs1597618703
NM_000080.4(CHRNE):c.891T>G (p.Thr297=) rs1969956471
NM_000080.4(CHRNE):c.894T>G (p.Ser298=) rs2151097016
NM_000080.4(CHRNE):c.895C>T (p.Leu299=) rs2151097014
NM_000080.4(CHRNE):c.897G>A (p.Leu299=) rs2151097007
NM_000080.4(CHRNE):c.906G>T (p.Pro302=) rs374156332
NM_000080.4(CHRNE):c.909C>G (p.Leu303=)
NM_000080.4(CHRNE):c.915C>A (p.Gly305=) rs992228063
NM_000080.4(CHRNE):c.917+7C>T rs961101973
NM_000080.4(CHRNE):c.918-8C>T rs1597615600
NM_000080.4(CHRNE):c.924T>G (p.Leu308=)
NM_000080.4(CHRNE):c.933C>G (p.Val311=)
NM_000080.4(CHRNE):c.948G>C (p.Thr316=)
NM_000080.4(CHRNE):c.948G>T (p.Thr316=) rs144207552
NM_000080.4(CHRNE):c.951C>G (p.Leu317=) rs757563966
NM_000080.4(CHRNE):c.957C>A (p.Val319=)
NM_000080.4(CHRNE):c.957C>T (p.Val319=) rs1244564448
NM_000080.4(CHRNE):c.969C>A (p.Val323=) rs532669011
NM_000080.4(CHRNE):c.969C>T (p.Val323=) rs532669011
NM_000080.4(CHRNE):c.96C>T (p.Phe32=)
NM_000080.4(CHRNE):c.975G>C (p.Val325=) rs1969881791
NM_000080.4(CHRNE):c.978C>T (p.Leu326=)
NM_000080.4(CHRNE):c.984G>A (p.Val328=)
NM_000080.4(CHRNE):c.984G>T (p.Val328=) rs1969880796
NM_000080.4(CHRNE):c.996G>A (p.Thr332=) rs772819662
NM_000080.4(CHRNE):c.996G>C (p.Thr332=)
NM_000080.4(CHRNE):c.996G>T (p.Thr332=) rs772819662
NM_000080.4(CHRNE):c.999C>T (p.Pro333=)
NM_000080.4(CHRNE):c.99C>T (p.Asn33=)
NM_000334.4(SCN4A):c.1845+18A>T rs775429476
NM_000334.4(SCN4A):c.2451C>A (p.Gly817=) rs754110462
NM_000334.4(SCN4A):c.2913G>A (p.Lys971=) rs530640921
NM_000334.4(SCN4A):c.3789G>T (p.Pro1263=) rs574892874
NM_000334.4(SCN4A):c.393-6C>A rs373185863
NM_000334.4(SCN4A):c.448A>C (p.Met150Leu) rs543502873
NM_000334.4(SCN4A):c.483-4C>G rs200062384
NM_000334.4(SCN4A):c.5218C>A (p.Arg1740=) rs373804267
NM_000334.4(SCN4A):c.5448C>G (p.Ala1816=) rs754357879
NM_000747.3(CHRNB1):c.1005C>T (p.Arg335=)
NM_000747.3(CHRNB1):c.1044+12CTC[2] rs536204964
NM_000747.3(CHRNB1):c.1044+14C>T
NM_000747.3(CHRNB1):c.1044+7_1044+10del rs1311886791
NM_000747.3(CHRNB1):c.1062T>G (p.Leu354=)
NM_000747.3(CHRNB1):c.1066C>T (p.Leu356=)
NM_000747.3(CHRNB1):c.1074G>C (p.Leu358=) rs2150842897
NM_000747.3(CHRNB1):c.1137A>C (p.Pro379=) rs1597754960
NM_000747.3(CHRNB1):c.1164T>C (p.Asp388=)
NM_000747.3(CHRNB1):c.1217+10C>T
NM_000747.3(CHRNB1):c.1217+11G>A rs1017100339
NM_000747.3(CHRNB1):c.1218-10C>T rs571453172
NM_000747.3(CHRNB1):c.1218-15T>C
NM_000747.3(CHRNB1):c.1248G>C (p.Leu416=)
NM_000747.3(CHRNB1):c.129G>A (p.Arg43=) rs1597747394
NM_000747.3(CHRNB1):c.1314C>T (p.Ser438=) rs576092367
NM_000747.3(CHRNB1):c.1329C>T (p.Ile443=)
NM_000747.3(CHRNB1):c.1362T>C (p.Asp454=) rs2150843392
NM_000747.3(CHRNB1):c.1365+18G>A
NM_000747.3(CHRNB1):c.1410C>T (p.Leu470=)
NM_000747.3(CHRNB1):c.1437C>T (p.Thr479=) rs1056901434
NM_000747.3(CHRNB1):c.1497C>T (p.Pro499=) rs1337697871
NM_000747.3(CHRNB1):c.189C>T (p.Leu63=)
NM_000747.3(CHRNB1):c.192C>T (p.Ile64=) rs2150837030
NM_000747.3(CHRNB1):c.198+14G>C
NM_000747.3(CHRNB1):c.198+14G>T
NM_000747.3(CHRNB1):c.198+15G>A rs199665345
NM_000747.3(CHRNB1):c.198+17G>C
NM_000747.3(CHRNB1):c.198+7G>T
NM_000747.3(CHRNB1):c.199-13T>G rs2150837467
NM_000747.3(CHRNB1):c.199-8C>G
NM_000747.3(CHRNB1):c.21G>C (p.Leu7=)
NM_000747.3(CHRNB1):c.244-14C>G
NM_000747.3(CHRNB1):c.300G>A (p.Ser100=) rs376099204
NM_000747.3(CHRNB1):c.306C>T (p.Arg102=)
NM_000747.3(CHRNB1):c.312G>A (p.Thr104=)
NM_000747.3(CHRNB1):c.321C>T (p.Ser107=)
NM_000747.3(CHRNB1):c.330C>G (p.Leu110=) rs760133867
NM_000747.3(CHRNB1):c.336C>T (p.Asp112=)
NM_000747.3(CHRNB1):c.354-6C>G
NM_000747.3(CHRNB1):c.372C>T (p.Asp124=)
NM_000747.3(CHRNB1):c.387T>C (p.Ile129=)
NM_000747.3(CHRNB1):c.399G>A (p.Val133=)
NM_000747.3(CHRNB1):c.408C>T (p.Asp136=)
NM_000747.3(CHRNB1):c.429C>G (p.Pro143=)
NM_000747.3(CHRNB1):c.432G>A (p.Pro144=)
NM_000747.3(CHRNB1):c.462+20G>A
NM_000747.3(CHRNB1):c.477C>G (p.Pro159=)
NM_000747.3(CHRNB1):c.480C>T (p.Phe160=) rs1416889935
NM_000747.3(CHRNB1):c.516C>T (p.Tyr172=)
NM_000747.3(CHRNB1):c.531G>A (p.Ser177=) rs886053393
NM_000747.3(CHRNB1):c.531G>T (p.Ser177=) rs886053393
NM_000747.3(CHRNB1):c.58+12C>A
NM_000747.3(CHRNB1):c.58+20G>A rs1908548076
NM_000747.3(CHRNB1):c.610+13G>T
NM_000747.3(CHRNB1):c.611-15_611-13del rs752595679
NM_000747.3(CHRNB1):c.611-6C>T
NM_000747.3(CHRNB1):c.611-9C>G rs538827412
NM_000747.3(CHRNB1):c.612G>A (p.Glu204=) rs754405279
NM_000747.3(CHRNB1):c.663A>T (p.Pro221=) rs759723394
NM_000747.3(CHRNB1):c.745C>T (p.Leu249=)
NM_000747.3(CHRNB1):c.784C>T (p.Leu262=)
NM_000747.3(CHRNB1):c.78G>A (p.Ala26=) rs776631018
NM_000747.3(CHRNB1):c.820+16G>T
NM_000747.3(CHRNB1):c.821-14C>T
NM_000747.3(CHRNB1):c.850C>T (p.Leu284=)
NM_000747.3(CHRNB1):c.877C>T (p.Leu293=) rs956543933
NM_000747.3(CHRNB1):c.930G>A (p.Lys310=)
NM_000747.3(CHRNB1):c.972C>T (p.Ile324=) rs781190969
NM_000747.3(CHRNB1):c.981C>T (p.Val327=)
NM_000747.3(CHRNB1):c.993C>T (p.Asn331=)
NM_000747.3(CHRNB1):c.9A>G (p.Pro3=) rs1481997291
NM_000751.3(CHRND):c.*547G>C rs2343841
NM_001145536.2(C17orf107):c.*1096C>A
NM_001145536.2(C17orf107):c.*1096C>T rs2151097867
NM_001145536.2(C17orf107):c.*1097G>A
NM_001145536.2(C17orf107):c.*1099A>G
NM_001145536.2(C17orf107):c.*1103_*1115dup
NM_001145536.2(C17orf107):c.*1104G>C
NM_001145536.2(C17orf107):c.*1107C>T
NM_001145536.2(C17orf107):c.*1109G>A
NM_001145536.2(C17orf107):c.*1110G>A
NM_001145536.2(C17orf107):c.*1111G>A
NM_001145536.2(C17orf107):c.*1381C>T
NM_001145536.2(C17orf107):c.*1382G>A
NM_001145536.2(C17orf107):c.*1383G>A
NM_001145536.2(C17orf107):c.*1390T>G
NM_001145536.2(C17orf107):c.*1390_*1391delinsAA rs2151098237
NM_001145536.2(C17orf107):c.*1391C>A
NM_001145536.2(C17orf107):c.*1558T>C
NM_001145536.2(C17orf107):c.*1562C>T rs2151098423
NM_001145536.2(C17orf107):c.*1567G>A
NM_001145536.2(C17orf107):c.*1571A>T
NM_001145536.2(C17orf107):c.*1573C>A
NM_001145536.2(C17orf107):c.*1573C>G
NM_001145536.2(C17orf107):c.*1573C>T
NM_001145536.2(C17orf107):c.*1574G>A
NM_001145536.2(C17orf107):c.*1574G>C
NM_001145536.2(C17orf107):c.*1670G>T
NM_001145536.2(C17orf107):c.*1674C>T
NM_001145536.2(C17orf107):c.*1675G>A rs371037732
NM_001145536.2(C17orf107):c.*1675G>C rs371037732
NM_001145536.2(C17orf107):c.*1676G>A rs2151098517
NM_001145536.2(C17orf107):c.*1677T>C
NM_001145536.2(C17orf107):c.*1798G>C
NM_001145536.2(C17orf107):c.*1799G>T
NM_001145536.2(C17orf107):c.*1800G>A
NM_001145536.2(C17orf107):c.*1803G>A rs778566436
NM_001145536.2(C17orf107):c.*1803G>T
NM_001145536.2(C17orf107):c.*1808A>G
NM_001145536.2(C17orf107):c.*1809T>C
NM_001145536.2(C17orf107):c.*1810G>A
NM_001145536.2(C17orf107):c.*1811G>T
NM_001145536.2(C17orf107):c.*1900C>T
NM_001145536.2(C17orf107):c.*1910G>A
NM_001145536.2(C17orf107):c.*1965C>T
NM_001145536.2(C17orf107):c.*1968A>G rs2151098764
NM_001145536.2(C17orf107):c.*1970G>C
NM_001145536.2(C17orf107):c.*1971G>A rs2151098767
NM_001145536.2(C17orf107):c.*1974G>C
NM_001145536.2(C17orf107):c.*1978G>C
NM_001145536.2(C17orf107):c.*2072G>T
NM_001145536.2(C17orf107):c.*2074T>G
NM_001145536.2(C17orf107):c.*2075G>A
NM_001145536.2(C17orf107):c.*2076G>A
NM_001145536.2(C17orf107):c.*2078G>A
NM_001145536.2(C17orf107):c.*2078G>C rs1341882862
NM_001145536.2(C17orf107):c.*2078G>T
NM_001145536.2(C17orf107):c.*2079G>T
NM_001145536.2(C17orf107):c.*2081dup
NM_001145536.2(C17orf107):c.*2234C>T rs767084417
NM_001145536.2(C17orf107):c.*2236A>G
NM_001145536.2(C17orf107):c.*2241G>A
NM_001145536.2(C17orf107):c.*2244A>G
NM_001145536.2(C17orf107):c.*240C>T
NM_001145536.2(C17orf107):c.*241G>T
NM_001145536.2(C17orf107):c.*242C>T
NM_001145536.2(C17orf107):c.*243G>A
NM_001145536.2(C17orf107):c.*243G>C
NM_001145536.2(C17orf107):c.*244G>A
NM_001145536.2(C17orf107):c.*245G>A
NM_001145536.2(C17orf107):c.*247G>A
NM_001145536.2(C17orf107):c.*251C>T rs754325287
NM_001145536.2(C17orf107):c.*252G>A rs1337368697
NM_001145536.2(C17orf107):c.*253G>T
NM_001145536.2(C17orf107):c.*381_*390dup rs767922649
NM_001145536.2(C17orf107):c.*384G>A rs1326169288
NM_001145536.2(C17orf107):c.*384G>C
NM_001145536.2(C17orf107):c.*386G>A
NM_001145536.2(C17orf107):c.*386G>C
NM_001145536.2(C17orf107):c.*386del
NM_001145536.2(C17orf107):c.*388_*397dup
NM_001145536.2(C17orf107):c.*389A>G
NM_001145536.2(C17orf107):c.*390G>T
NM_001145536.2(C17orf107):c.*439T>C
NM_001145536.2(C17orf107):c.*439T>G
NM_001145536.2(C17orf107):c.*441C>T
NM_001145536.2(C17orf107):c.*442G>C
NM_001145536.2(C17orf107):c.*445G>A
NM_001145536.2(C17orf107):c.*447C>T rs2151097179
NM_001145536.2(C17orf107):c.*448A>C rs199876621
NM_001145536.2(C17orf107):c.*661C>A
NM_001145536.2(C17orf107):c.*661C>T
NM_001145536.2(C17orf107):c.*662G>A rs764599384
NM_001145536.2(C17orf107):c.*663G>A
NM_001145536.2(C17orf107):c.*664G>A rs1298446963
NM_001145536.2(C17orf107):c.*664_*665insTC
NM_001145536.2(C17orf107):c.*666C>A rs1382185555
NM_001145536.2(C17orf107):c.*667G>C rs765175027
NM_001145536.2(C17orf107):c.*668G>T
NM_001145536.2(C17orf107):c.*669G>A
NM_001145536.2(C17orf107):c.*670G>A
NM_001145536.2(C17orf107):c.*671G>A
NM_001145536.2(C17orf107):c.*671G>C
NM_001145536.2(C17orf107):c.*674C>T
NM_001145536.2(C17orf107):c.*675G>A
NM_001145536.2(C17orf107):c.*676G>A
NM_001145536.2(C17orf107):c.*973del
NM_001145536.2(C17orf107):c.*978G>A
NM_001145536.2(C17orf107):c.*978G>C
NM_001145536.2(C17orf107):c.*983G>A rs2151097723
NM_001145536.2(C17orf107):c.*985G>T rs748517215
NM_001145536.2(C17orf107):c.-162A>G
NM_001145536.2(C17orf107):c.-164G>A
NM_001145536.2(C17orf107):c.-164G>T
NM_001145536.2(C17orf107):c.-165G>A
NM_001145536.2(C17orf107):c.-167A>C
NM_001145536.2(C17orf107):c.-168G>A
NM_001145536.2(C17orf107):c.-169G>A
NM_001145536.2(C17orf107):c.-171C>G
NM_001145536.2(C17orf107):c.-172C>T rs2151095352
NM_001145536.2(C17orf107):c.-173G>C rs1597615600
NM_001145536.2(C17orf107):c.-175G>A
NM_001145536.2(C17orf107):c.-176G>A rs1386033276
NM_001145536.2(C17orf107):c.-177A>G rs1300080950
NM_001171613.2(PREPL):c.-48-10C>T rs2104024279
NM_001171613.2(PREPL):c.-48-7T>C
NM_001171613.2(PREPL):c.-48-9T>C
NM_001171613.2(PREPL):c.-49+1673G>A rs757367125
NM_001171613.2(PREPL):c.-49+1691C>T rs943164834
NM_001171613.2(PREPL):c.-49+1760C>T rs2104270696
NM_001171613.2(PREPL):c.-49+1763C>T
NM_001171613.2(PREPL):c.-49+1784A>G rs773880492
NM_001171613.2(PREPL):c.-49+1791T>C
NM_001171613.2(PREPL):c.-49+1793G>A rs779251130
NM_001171613.2(PREPL):c.-49+1806C>T
NM_001171613.2(PREPL):c.-49+1891C>A
NM_001171613.2(PREPL):c.-49+1893_-49+1896del rs1572594172
NM_001171613.2(PREPL):c.1017T>C (p.Phe339=) rs2103838543
NM_001171613.2(PREPL):c.1029G>A (p.Gly343=)
NM_001171613.2(PREPL):c.102C>T (p.Tyr34=)
NM_001171613.2(PREPL):c.105A>G (p.Gln35=)
NM_001171613.2(PREPL):c.1071A>G (p.Leu357=)
NM_001171613.2(PREPL):c.1077C>G (p.Ala359=)
NM_001171613.2(PREPL):c.1086+11T>A rs747536626
NM_001171613.2(PREPL):c.1086+18C>A
NM_001171613.2(PREPL):c.1086+19A>G
NM_001171613.2(PREPL):c.1087-20T>C
NM_001171613.2(PREPL):c.1087-22_1087-19del rs781594204
NM_001171613.2(PREPL):c.1087-4C>G rs1572857344
NM_001171613.2(PREPL):c.1104A>G (p.Pro368=)
NM_001171613.2(PREPL):c.1113T>G (p.Val371=)
NM_001171613.2(PREPL):c.1134G>A (p.Glu378=)
NM_001171613.2(PREPL):c.1140G>A (p.Leu380=)
NM_001171613.2(PREPL):c.1149A>G (p.Lys383=)
NM_001171613.2(PREPL):c.117C>T (p.Cys39=)
NM_001171613.2(PREPL):c.1224G>C (p.Leu408=) rs2103786137
NM_001171613.2(PREPL):c.1233T>C (p.Asp411=)
NM_001171613.2(PREPL):c.1262+19C>T
NM_001171613.2(PREPL):c.126T>C (p.Arg42=)
NM_001171613.2(PREPL):c.1293C>T (p.His431=) rs760961704
NM_001171613.2(PREPL):c.1296T>C (p.Ala432=)
NM_001171613.2(PREPL):c.1302C>T (p.Gly434=) rs376023108
NM_001171613.2(PREPL):c.1305C>T (p.Arg435=)
NM_001171613.2(PREPL):c.1371C>G (p.Gly457=) rs2103751150
NM_001171613.2(PREPL):c.1413T>C (p.Ala471=)
NM_001171613.2(PREPL):c.1419G>A (p.Gly473=)
NM_001171613.2(PREPL):c.142+11A>G
NM_001171613.2(PREPL):c.142+12T>G
NM_001171613.2(PREPL):c.142+7C>G
NM_001171613.2(PREPL):c.143-16A>C
NM_001171613.2(PREPL):c.143-19C>A
NM_001171613.2(PREPL):c.1467G>C (p.Ala489=)
NM_001171613.2(PREPL):c.1479+20A>G
NM_001171613.2(PREPL):c.1479+9G>A
NM_001171613.2(PREPL):c.1480-15T>C
NM_001171613.2(PREPL):c.1480-7T>C
NM_001171613.2(PREPL):c.1515C>T (p.Asp505=)
NM_001171613.2(PREPL):c.1527T>G (p.Pro509=) rs2103696019
NM_001171613.2(PREPL):c.1569T>C (p.Ser523=) rs1181427435
NM_001171613.2(PREPL):c.1598G>T (p.Arg533Leu) rs375292548
NM_001171613.2(PREPL):c.159T>C (p.Tyr53=)
NM_001171613.2(PREPL):c.1629+11A>T
NM_001171613.2(PREPL):c.1629+13A>G rs772363126
NM_001171613.2(PREPL):c.1629+9A>G rs1247136692
NM_001171613.2(PREPL):c.1630-16A>G
NM_001171613.2(PREPL):c.1653G>A (p.Thr551=)
NM_001171613.2(PREPL):c.1672C>A (p.Arg558=)
NM_001171613.2(PREPL):c.1677A>G (p.Val559=) rs913408771
NM_001171613.2(PREPL):c.1728G>A (p.Ala576=) rs757091047
NM_001171613.2(PREPL):c.1728G>T (p.Ala576=) rs757091047
NM_001171613.2(PREPL):c.1753+8A>T rs1553350931
NM_001171613.2(PREPL):c.1754-7C>T
NM_001171613.2(PREPL):c.175T>C (p.Leu59=)
NM_001171613.2(PREPL):c.1803T>C (p.His601=)
NM_001171613.2(PREPL):c.1827+10C>G rs1295732711
NM_001171613.2(PREPL):c.1827+11A>T
NM_001171613.2(PREPL):c.1827+16C>T
NM_001171613.2(PREPL):c.1827+8A>T
NM_001171613.2(PREPL):c.1828-13G>A
NM_001171613.2(PREPL):c.1828-14T>C
NM_001171613.2(PREPL):c.1828-7C>A rs781459763
NM_001171613.2(PREPL):c.1839A>G (p.Gln613=)
NM_001171613.2(PREPL):c.1848C>T (p.Phe616=) rs776568419
NM_001171613.2(PREPL):c.1851G>C (p.Leu617=) rs771707341
NM_001171613.2(PREPL):c.1863T>C (p.Leu621=)
NM_001171613.2(PREPL):c.1908G>C (p.Leu636=)
NM_001171613.2(PREPL):c.198G>A (p.Gln66=) rs778184072
NM_001171613.2(PREPL):c.216C>T (p.Ile72=)
NM_001171613.2(PREPL):c.249C>T (p.Ala83=)
NM_001171613.2(PREPL):c.270T>C (p.Ser90=)
NM_001171613.2(PREPL):c.27A>G (p.Thr9=)
NM_001171613.2(PREPL):c.282C>T (p.Thr94=)
NM_001171613.2(PREPL):c.300C>T (p.Leu100=)
NM_001171613.2(PREPL):c.312C>T (p.Pro104=) rs11542603
NM_001171613.2(PREPL):c.333G>A (p.Pro111=) rs111330295
NM_001171613.2(PREPL):c.336T>C (p.Asn112=) rs772575204
NM_001171613.2(PREPL):c.342C>T (p.Ser114=)
NM_001171613.2(PREPL):c.349+16A>G rs1675475052
NM_001171613.2(PREPL):c.350-10_350-8del rs751258871
NM_001171613.2(PREPL):c.350-13T>G
NM_001171613.2(PREPL):c.350-16C>G
NM_001171613.2(PREPL):c.350-19T>C
NM_001171613.2(PREPL):c.360G>A (p.Lys120=) rs2103969592
NM_001171613.2(PREPL):c.390C>T (p.Tyr130=) rs2103969128
NM_001171613.2(PREPL):c.396C>T (p.Phe132=) rs1192368554
NM_001171613.2(PREPL):c.432C>T (p.Ala144=)
NM_001171613.2(PREPL):c.465T>C (p.Phe155=)
NM_001171613.2(PREPL):c.485+10T>A
NM_001171613.2(PREPL):c.485+8A>G rs2103967683
NM_001171613.2(PREPL):c.485+9A>G
NM_001171613.2(PREPL):c.486-10C>T
NM_001171613.2(PREPL):c.486-18CT[6] rs750292662
NM_001171613.2(PREPL):c.486-18CT[9] rs750292662
NM_001171613.2(PREPL):c.486-19T>A
NM_001171613.2(PREPL):c.486-4C>G rs1217024448
NM_001171613.2(PREPL):c.498C>T (p.Phe166=) rs1230569140
NM_001171613.2(PREPL):c.525C>T (p.Phe175=)
NM_001171613.2(PREPL):c.540T>C (p.Ile180=)
NM_001171613.2(PREPL):c.549G>A (p.Lys183=) rs2103926652
NM_001171613.2(PREPL):c.564G>A (p.Val188=) rs1293632946
NM_001171613.2(PREPL):c.579C>T (p.Gly193=)
NM_001171613.2(PREPL):c.672C>T (p.Leu224=)
NM_001171613.2(PREPL):c.702+10G>A
NM_001171613.2(PREPL):c.702+16C>T
NM_001171613.2(PREPL):c.702+17G>T
NM_001171613.2(PREPL):c.702+19T>A
NM_001171613.2(PREPL):c.702+20G>T
NM_001171613.2(PREPL):c.702+7C>T rs1674951448
NM_001171613.2(PREPL):c.703-20T>G rs1028855087
NM_001171613.2(PREPL):c.703-6A>G
NM_001171613.2(PREPL):c.703-7C>G rs1674874642
NM_001171613.2(PREPL):c.705A>C (p.Leu235=)
NM_001171613.2(PREPL):c.705A>G (p.Leu235=)
NM_001171613.2(PREPL):c.709A>C (p.Arg237=)
NM_001171613.2(PREPL):c.75+10C>T
NM_001171613.2(PREPL):c.75+9T>C
NM_001171613.2(PREPL):c.759A>G (p.Thr253=) rs1424550193
NM_001171613.2(PREPL):c.76-10C>T rs1470050624
NM_001171613.2(PREPL):c.76-14G>A
NM_001171613.2(PREPL):c.76-17C>T
NM_001171613.2(PREPL):c.765G>A (p.Lys255=)
NM_001171613.2(PREPL):c.774A>C (p.Thr258=)
NM_001171613.2(PREPL):c.780G>C (p.Val260=)
NM_001171613.2(PREPL):c.792C>T (p.Asp264=) rs1572881157
NM_001171613.2(PREPL):c.816A>G (p.Leu272=)
NM_001171613.2(PREPL):c.825G>A (p.Lys275=)
NM_001171613.2(PREPL):c.828C>T (p.His276=)
NM_001171613.2(PREPL):c.867T>C (p.Asp289=)
NM_001171613.2(PREPL):c.888+10A>T
NM_001171613.2(PREPL):c.888+12T>G
NM_001171613.2(PREPL):c.888+13T>C
NM_001171613.2(PREPL):c.888+8T>C
NM_001171613.2(PREPL):c.889-17C>G
NM_001171613.2(PREPL):c.889-17_889-15del
NM_001171613.2(PREPL):c.889-20T>C
NM_001171613.2(PREPL):c.912C>T (p.Phe304=) rs2103839981
NM_001171613.2(PREPL):c.984T>C (p.Tyr328=)
NM_001171613.2(PREPL):c.993C>T (p.Tyr331=)
NM_001244710.2(GFPT1):c.1009+17T>A
NM_001244710.2(GFPT1):c.1081A>C (p.Arg361=) rs2104631088
NM_001244710.2(GFPT1):c.1101T>C (p.Tyr367=) rs1458911769
NM_001244710.2(GFPT1):c.1105+7A>T
NM_001244710.2(GFPT1):c.1106-9T>C
NM_001244710.2(GFPT1):c.115+15A>G rs1401182899
NM_001244710.2(GFPT1):c.115+17A>G
NM_001244710.2(GFPT1):c.115+20A>G
NM_001244710.2(GFPT1):c.116-12A>G rs540758570
NM_001244710.2(GFPT1):c.116-19T>C
NM_001244710.2(GFPT1):c.116-6G>C rs762154144
NM_001244710.2(GFPT1):c.1204-13A>G
NM_001244710.2(GFPT1):c.1204-13_1204-11dup
NM_001244710.2(GFPT1):c.1212A>G (p.Gln404=) rs1339146756
NM_001244710.2(GFPT1):c.1267C>T (p.Leu423=) rs1168233879
NM_001244710.2(GFPT1):c.126T>C (p.Phe42=) rs1574080849
NM_001244710.2(GFPT1):c.1296T>C (p.Asp432=)
NM_001244710.2(GFPT1):c.12A>T (p.Ile4=)
NM_001244710.2(GFPT1):c.1320A>G (p.Gln440=) rs1196976693
NM_001244710.2(GFPT1):c.1324+10_1324+15del rs777934882
NM_001244710.2(GFPT1):c.1324+9A>C
NM_001244710.2(GFPT1):c.1335A>G (p.Ala445=) rs2104616321
NM_001244710.2(GFPT1):c.1342T>C (p.Leu448=) rs968995023
NM_001244710.2(GFPT1):c.1455T>G (p.Gly485=)
NM_001244710.2(GFPT1):c.1483-10G>A
NM_001244710.2(GFPT1):c.1483-18T>C
NM_001244710.2(GFPT1):c.1542G>A (p.Arg514=) rs767370476
NM_001244710.2(GFPT1):c.1569G>A (p.Glu523=)
NM_001244710.2(GFPT1):c.1597+15dup rs2104600661
NM_001244710.2(GFPT1):c.1598-16T>A
NM_001244710.2(GFPT1):c.1598-5C>A
NM_001244710.2(GFPT1):c.1598-8C>T
NM_001244710.2(GFPT1):c.1611A>G (p.Glu537=)
NM_001244710.2(GFPT1):c.1644A>G (p.Leu548=) rs2104600073
NM_001244710.2(GFPT1):c.1689A>T (p.Arg563=)
NM_001244710.2(GFPT1):c.1695T>C (p.Tyr565=)
NM_001244710.2(GFPT1):c.1722A>C (p.Ala574=) rs2104599962
NM_001244710.2(GFPT1):c.1725+14G>C
NM_001244710.2(GFPT1):c.1726-16G>C
NM_001244710.2(GFPT1):c.1726-5A>G
NM_001244710.2(GFPT1):c.1788C>G (p.Gly596=)
NM_001244710.2(GFPT1):c.1791T>C (p.Pro597=)
NM_001244710.2(GFPT1):c.1809A>G (p.Lys603=)
NM_001244710.2(GFPT1):c.1869T>C (p.Ala623=)
NM_001244710.2(GFPT1):c.1869T>G (p.Ala623=)
NM_001244710.2(GFPT1):c.1894-9C>G
NM_001244710.2(GFPT1):c.1905G>A (p.Val635=) rs1558725033
NM_001244710.2(GFPT1):c.1944C>T (p.Asn648=)
NM_001244710.2(GFPT1):c.1956G>A (p.Thr652=)
NM_001244710.2(GFPT1):c.1984T>C (p.Leu662=) rs1370889713
NM_001244710.2(GFPT1):c.2016G>A (p.Gln672=)
NM_001244710.2(GFPT1):c.2031C>T (p.His677=) rs2104595358
NM_001244710.2(GFPT1):c.2056-10_2056-9del rs778019023
NM_001244710.2(GFPT1):c.2056-4G>T
NM_001244710.2(GFPT1):c.2056-9T>G
NM_001244710.2(GFPT1):c.2091T>C (p.Thr697=)
NM_001244710.2(GFPT1):c.224-11A>G
NM_001244710.2(GFPT1):c.224-18T>G
NM_001244710.2(GFPT1):c.224-20T>C
NM_001244710.2(GFPT1):c.228A>G (p.Gln76=)
NM_001244710.2(GFPT1):c.33T>C (p.His11=)
NM_001244710.2(GFPT1):c.350-4_350-3del
NM_001244710.2(GFPT1):c.351A>G (p.Glu117=)
NM_001244710.2(GFPT1):c.387C>T (p.Tyr129=) rs761321362
NM_001244710.2(GFPT1):c.408+11T>C
NM_001244710.2(GFPT1):c.408+12G>C
NM_001244710.2(GFPT1):c.408+12G>T
NM_001244710.2(GFPT1):c.408+14C>T
NM_001244710.2(GFPT1):c.408+9G>A
NM_001244710.2(GFPT1):c.420C>G (p.Gly140=) rs1671392979
NM_001244710.2(GFPT1):c.468T>G (p.Val156=)
NM_001244710.2(GFPT1):c.544-11T>C
NM_001244710.2(GFPT1):c.544-6C>T
NM_001244710.2(GFPT1):c.597T>C (p.Val199=) rs2104652107
NM_001244710.2(GFPT1):c.606-19C>T
NM_001244710.2(GFPT1):c.642A>G (p.Glu214=) rs2104648039
NM_001244710.2(GFPT1):c.669T>C (p.Pro223=) rs903308197
NM_001244710.2(GFPT1):c.685+18A>G
NM_001244710.2(GFPT1):c.686-12G>A
NM_001244710.2(GFPT1):c.686-15G>A
NM_001244710.2(GFPT1):c.7+11C>T
NM_001244710.2(GFPT1):c.739+19A>G rs1335194019
NM_001244710.2(GFPT1):c.740-20A>G
NM_001244710.2(GFPT1):c.834T>C (p.Ala278=)
NM_001244710.2(GFPT1):c.845+13A>G
NM_001244710.2(GFPT1):c.845+15T>G
NM_001244710.2(GFPT1):c.846-13G>A
NM_001244710.2(GFPT1):c.846-17C>G
NM_001244710.2(GFPT1):c.876C>T (p.Ile292=)
NM_001244710.2(GFPT1):c.897T>C (p.Val299=) rs2104635977
NM_001244710.2(GFPT1):c.948A>G (p.Ala316=)
NM_001244710.2(GFPT1):c.957C>T (p.His319=) rs1574060474
NM_001382.4(DPAGT1):c.1006-6C>T rs2134898608
NM_001382.4(DPAGT1):c.1044T>C (p.Ser348=)
NM_001382.4(DPAGT1):c.1050T>G (p.Thr350=)
NM_001382.4(DPAGT1):c.1059T>G (p.Gly353=) rs1946413563
NM_001382.4(DPAGT1):c.1101A>T (p.Leu367=) rs1442358846
NM_001382.4(DPAGT1):c.1158G>A (p.Leu386=) rs2134897849
NM_001382.4(DPAGT1):c.1161+15C>T rs775825050
NM_001382.4(DPAGT1):c.1161+18G>A
NM_001382.4(DPAGT1):c.1161+9G>A rs1946410715
NM_001382.4(DPAGT1):c.1162-14A>G
NM_001382.4(DPAGT1):c.1164C>A (p.Ile388=)
NM_001382.4(DPAGT1):c.161+13A>G
NM_001382.4(DPAGT1):c.161+16C>T
NM_001382.4(DPAGT1):c.161+9C>T
NM_001382.4(DPAGT1):c.162-12G>A
NM_001382.4(DPAGT1):c.162-12G>C
NM_001382.4(DPAGT1):c.162-15G>A
NM_001382.4(DPAGT1):c.162-16T>C rs2134916538
NM_001382.4(DPAGT1):c.162-18C>G rs764930301
NM_001382.4(DPAGT1):c.162-18C>T
NM_001382.4(DPAGT1):c.162-20C>G rs749879111
NM_001382.4(DPAGT1):c.222C>T (p.Ile74=)
NM_001382.4(DPAGT1):c.276C>T (p.His92=) rs931405073
NM_001382.4(DPAGT1):c.282+12C>T
NM_001382.4(DPAGT1):c.282+17G>A rs1236626939
NM_001382.4(DPAGT1):c.282+20T>C
NM_001382.4(DPAGT1):c.283-13G>A
NM_001382.4(DPAGT1):c.283-5C>T
NM_001382.4(DPAGT1):c.342G>C (p.Ala114=)
NM_001382.4(DPAGT1):c.348T>C (p.Asp116=) rs200885014
NM_001382.4(DPAGT1):c.441G>A (p.Thr147=)
NM_001382.4(DPAGT1):c.444C>T (p.Thr148=)
NM_001382.4(DPAGT1):c.453G>A (p.Val151=)
NM_001382.4(DPAGT1):c.462C>T (p.Pro154=)
NM_001382.4(DPAGT1):c.48C>T (p.Ile16=) rs1020413992
NM_001382.4(DPAGT1):c.497-4G>A rs771175893
NM_001382.4(DPAGT1):c.497-4G>C rs771175893
NM_001382.4(DPAGT1):c.637T>C (p.Leu213=)
NM_001382.4(DPAGT1):c.643+17G>C
NM_001382.4(DPAGT1):c.644-12T>G
NM_001382.4(DPAGT1):c.644-18_644-15del rs750678639
NM_001382.4(DPAGT1):c.645T>C (p.Gly215=) rs2134903738
NM_001382.4(DPAGT1):c.663T>C (p.His221=) rs755080683
NM_001382.4(DPAGT1):c.669T>C (p.Phe223=)
NM_001382.4(DPAGT1):c.678C>T (p.Tyr226=) rs1592226752
NM_001382.4(DPAGT1):c.693T>C (p.Phe231=)
NM_001382.4(DPAGT1):c.729-16C>G
NM_001382.4(DPAGT1):c.729-16C>T
NM_001382.4(DPAGT1):c.735A>G (p.Pro245=) rs1946429703
NM_001382.4(DPAGT1):c.744G>A (p.Val248=)
NM_001382.4(DPAGT1):c.789C>T (p.Ala263=)
NM_001382.4(DPAGT1):c.810C>T (p.His270=) rs1946427343
NM_001382.4(DPAGT1):c.81C>G (p.Thr27=) rs145055477
NM_001382.4(DPAGT1):c.822C>T (p.Thr274=) rs756625547
NM_001382.4(DPAGT1):c.879C>T (p.Leu293=) rs1592226120
NM_001382.4(DPAGT1):c.888C>T (p.Ile296=)
NM_001382.4(DPAGT1):c.917+7G>A
NM_001382.4(DPAGT1):c.918-15A>G
NM_001382.4(DPAGT1):c.930G>A (p.Lys310=) rs2134899492
NM_001382.4(DPAGT1):c.993C>T (p.Thr331=) rs1946418951
NM_001382.4(DPAGT1):c.9C>T (p.Ala3=)
NM_002334.4(LRP4):c.1026C>T (p.Asp342=)
NM_002334.4(LRP4):c.1029A>G (p.Glu343=) rs761739869
NM_002334.4(LRP4):c.1048+13A>G
NM_002334.4(LRP4):c.1049-10G>C rs2134853583
NM_002334.4(LRP4):c.1049-20C>T
NM_002334.4(LRP4):c.1074C>T (p.Cys358=)
NM_002334.4(LRP4):c.1095T>C (p.Cys365=)
NM_002334.4(LRP4):c.1146A>G (p.Thr382=) rs2134853133
NM_002334.4(LRP4):c.1176G>A (p.Thr392=)
NM_002334.4(LRP4):c.1184-18C>T
NM_002334.4(LRP4):c.1184-5C>T
NM_002334.4(LRP4):c.1218C>T (p.Ser406=) rs2134851406
NM_002334.4(LRP4):c.1236C>T (p.Ser412=)
NM_002334.4(LRP4):c.1302G>A (p.Lys434=)
NM_002334.4(LRP4):c.1306C>T (p.Leu436=) rs368827270
NM_002334.4(LRP4):c.1317G>A (p.Glu439=)
NM_002334.4(LRP4):c.1320T>C (p.Pro440=)
NM_002334.4(LRP4):c.1341C>T (p.Arg447=)
NM_002334.4(LRP4):c.135C>T (p.Ile45=)
NM_002334.4(LRP4):c.1371C>A (p.Arg457=)
NM_002334.4(LRP4):c.1503C>T (p.Asn501=)
NM_002334.4(LRP4):c.1509G>A (p.Glu503=)
NM_002334.4(LRP4):c.1540+13G>A
NM_002334.4(LRP4):c.1540+17C>A
NM_002334.4(LRP4):c.1540+18A>G
NM_002334.4(LRP4):c.1540+9C>T
NM_002334.4(LRP4):c.1541-16T>C
NM_002334.4(LRP4):c.1542G>T (p.Gly514=)
NM_002334.4(LRP4):c.1546C>T (p.Leu516=) rs1592539185
NM_002334.4(LRP4):c.1584C>A (p.Thr528=) rs574108233
NM_002334.4(LRP4):c.1626G>A (p.Gly542=)
NM_002334.4(LRP4):c.1629C>T (p.Ala543=)
NM_002334.4(LRP4):c.1697+19T>C
NM_002334.4(LRP4):c.1755T>C (p.Asp585=)
NM_002334.4(LRP4):c.1758C>T (p.Gly586=)
NM_002334.4(LRP4):c.1764A>G (p.Gly588=)
NM_002334.4(LRP4):c.1803T>C (p.Asn601=)
NM_002334.4(LRP4):c.1833T>C (p.Arg611=)
NM_002334.4(LRP4):c.183C>T (p.Ser61=)
NM_002334.4(LRP4):c.1854G>A (p.Lys618=)
NM_002334.4(LRP4):c.1915+8C>A
NM_002334.4(LRP4):c.1920C>T (p.Leu640=)
NM_002334.4(LRP4):c.1953C>T (p.Asp651=)
NM_002334.4(LRP4):c.1980C>A (p.Thr660=)
NM_002334.4(LRP4):c.199+12C>T
NM_002334.4(LRP4):c.1995C>T (p.Ser665=)
NM_002334.4(LRP4):c.200-26TTTTC[2] rs760673637
NM_002334.4(LRP4):c.200-26TTTTC[4]
NM_002334.4(LRP4):c.2001C>T (p.Asn667=)
NM_002334.4(LRP4):c.2028C>A (p.Ile676=)
NM_002334.4(LRP4):c.2028C>T (p.Ile676=) rs1941385384
NM_002334.4(LRP4):c.2043C>G (p.Leu681=)
NM_002334.4(LRP4):c.2073C>T (p.His691=)
NM_002334.4(LRP4):c.2092+12C>T
NM_002334.4(LRP4):c.2092+18G>A
NM_002334.4(LRP4):c.2092+20G>C
NM_002334.4(LRP4):c.2093-19C>T rs1181290875
NM_002334.4(LRP4):c.2130G>A (p.Thr710=) rs199674492
NM_002334.4(LRP4):c.2142G>T (p.Leu714=)
NM_002334.4(LRP4):c.2175C>T (p.Pro725=) rs369705661
NM_002334.4(LRP4):c.2178T>G (p.Thr726=) rs1941371842
NM_002334.4(LRP4):c.2216-18C>T
NM_002334.4(LRP4):c.2216-20C>A
NM_002334.4(LRP4):c.225C>T (p.Asp75=) rs1023732809
NM_002334.4(LRP4):c.2286G>T (p.Leu762=)
NM_002334.4(LRP4):c.2307G>A (p.Leu769=)
NM_002334.4(LRP4):c.2337C>T (p.Asp779=)
NM_002334.4(LRP4):c.2370A>G (p.Thr790=)
NM_002334.4(LRP4):c.2425-19A>G rs2134827879
NM_002334.4(LRP4):c.2425-6G>T rs1592532832
NM_002334.4(LRP4):c.2442T>C (p.Ser814=) rs2134827694
NM_002334.4(LRP4):c.2493C>T (p.Tyr831=) rs2134827587
NM_002334.4(LRP4):c.2506+8T>C
NM_002334.4(LRP4):c.2592C>T (p.Ile864=)
NM_002334.4(LRP4):c.2612+12C>T
NM_002334.4(LRP4):c.2612+15C>T rs926960884
NM_002334.4(LRP4):c.2613-11C>A
NM_002334.4(LRP4):c.2613-11_2613-7dup
NM_002334.4(LRP4):c.276G>A (p.Gly92=)
NM_002334.4(LRP4):c.2794C>T (p.Leu932=)
NM_002334.4(LRP4):c.2814+10del rs534937304
NM_002334.4(LRP4):c.2814+17_2814+39del
NM_002334.4(LRP4):c.2814+9G>A
NM_002334.4(LRP4):c.2815-16G>A rs1941096408
NM_002334.4(LRP4):c.2815-20_2815-17dup
NM_002334.4(LRP4):c.2835C>A (p.Leu945=)
NM_002334.4(LRP4):c.2835C>G (p.Leu945=) rs201362411
NM_002334.4(LRP4):c.2895C>G (p.Thr965=)
NM_002334.4(LRP4):c.2919G>T (p.Arg973=)
NM_002334.4(LRP4):c.2928G>T (p.Gly976=)
NM_002334.4(LRP4):c.2958G>A (p.Leu986=) rs541593593
NM_002334.4(LRP4):c.2979T>C (p.His993=)
NM_002334.4(LRP4):c.3004+13T>C
NM_002334.4(LRP4):c.3004+14G>C
NM_002334.4(LRP4):c.3004+18C>T rs2306028
NM_002334.4(LRP4):c.3004+19G>A
NM_002334.4(LRP4):c.3005-12C>T
NM_002334.4(LRP4):c.3005-4C>T
NM_002334.4(LRP4):c.3009T>C (p.Ser1003=)
NM_002334.4(LRP4):c.3045C>T (p.His1015=) rs2134807034
NM_002334.4(LRP4):c.306G>A (p.Glu102=)
NM_002334.4(LRP4):c.3136+16A>G
NM_002334.4(LRP4):c.3137-13C>T
NM_002334.4(LRP4):c.3137-15del rs2134802550
NM_002334.4(LRP4):c.3137-4G>A
NM_002334.4(LRP4):c.3137-4G>C
NM_002334.4(LRP4):c.3150C>T (p.Phe1050=) rs2134802462
NM_002334.4(LRP4):c.317-12C>G
NM_002334.4(LRP4):c.317-19G>A
NM_002334.4(LRP4):c.3216G>A (p.Val1072=)
NM_002334.4(LRP4):c.3222A>C (p.Val1074=)
NM_002334.4(LRP4):c.3228C>T (p.Ile1076=)
NM_002334.4(LRP4):c.3278-8C>T rs1941033938
NM_002334.4(LRP4):c.3333T>C (p.Asp1111=)
NM_002334.4(LRP4):c.3364+11C>T
NM_002334.4(LRP4):c.3364+17G>T
NM_002334.4(LRP4):c.3384G>C (p.Gly1128=)
NM_002334.4(LRP4):c.3387C>T (p.Leu1129=) rs2134800312
NM_002334.4(LRP4):c.33C>T (p.Gly11=)
NM_002334.4(LRP4):c.3528T>C (p.His1176=)
NM_002334.4(LRP4):c.3536+11_3536+12delinsAA rs2134799662
NM_002334.4(LRP4):c.3536+18C>T
NM_002334.4(LRP4):c.3597C>T (p.Gly1199=)
NM_002334.4(LRP4):c.3606C>T (p.Arg1202=)
NM_002334.4(LRP4):c.3673C>T (p.Leu1225=)
NM_002334.4(LRP4):c.3684C>T (p.Ala1228=)
NM_002334.4(LRP4):c.3696C>T (p.Thr1232=)
NM_002334.4(LRP4):c.3699+13T>C
NM_002334.4(LRP4):c.3699+19C>T
NM_002334.4(LRP4):c.3699+8C>T
NM_002334.4(LRP4):c.3699+9C>A
NM_002334.4(LRP4):c.3699+9C>T
NM_002334.4(LRP4):c.3700-10T>C rs975882066
NM_002334.4(LRP4):c.3705T>C (p.Ile1235=)
NM_002334.4(LRP4):c.3708G>A (p.Glu1236=) rs2134797059
NM_002334.4(LRP4):c.3765A>G (p.Pro1255=)
NM_002334.4(LRP4):c.3780G>T (p.Leu1260=)
NM_002334.4(LRP4):c.378G>T (p.Leu126=)
NM_002334.4(LRP4):c.3864C>T (p.Leu1288=)
NM_002334.4(LRP4):c.3926-17G>A
NM_002334.4(LRP4):c.3926-5A>G
NM_002334.4(LRP4):c.4032T>C (p.Asp1344=) rs2134794190
NM_002334.4(LRP4):c.4050C>G (p.Pro1350=) rs2134794079
NM_002334.4(LRP4):c.408C>T (p.Gly136=)
NM_002334.4(LRP4):c.4125C>T (p.Thr1375=) rs371098163
NM_002334.4(LRP4):c.4149G>A (p.Glu1383=) rs1181126034
NM_002334.4(LRP4):c.4182C>T (p.Ser1394=)
NM_002334.4(LRP4):c.4197C>G (p.Val1399=)
NM_002334.4(LRP4):c.4229+11C>T
NM_002334.4(LRP4):c.4229+15G>A
NM_002334.4(LRP4):c.4229+20C>G
NM_002334.4(LRP4):c.4230-10T>C rs1940930151
NM_002334.4(LRP4):c.4230-12G>A
NM_002334.4(LRP4):c.4278G>A (p.Gly1426=) rs1940926502
NM_002334.4(LRP4):c.431-3del rs562071882
NM_002334.4(LRP4):c.431-9T>A rs1941620373
NM_002334.4(LRP4):c.4320G>A (p.Arg1440=)
NM_002334.4(LRP4):c.4422G>A (p.Arg1474=)
NM_002334.4(LRP4):c.4485G>A (p.Lys1495=)
NM_002334.4(LRP4):c.4557C>A (p.Gly1519=)
NM_002334.4(LRP4):c.4563C>T (p.Thr1521=)
NM_002334.4(LRP4):c.4584-14_4584-10del rs748959880
NM_002334.4(LRP4):c.4584-16_4584-15del rs768340393
NM_002334.4(LRP4):c.4602G>A (p.Ala1534=)
NM_002334.4(LRP4):c.4693-11C>T rs1409382852
NM_002334.4(LRP4):c.4693-12C>G
NM_002334.4(LRP4):c.4693-12C>T
NM_002334.4(LRP4):c.4693-16T>C rs2134778241
NM_002334.4(LRP4):c.4728C>T (p.Thr1576=) rs200270681
NM_002334.4(LRP4):c.4737C>A (p.Ile1579=)
NM_002334.4(LRP4):c.4837+8C>G rs1243774066
NM_002334.4(LRP4):c.4838-8G>A
NM_002334.4(LRP4):c.4839G>A (p.Gly1613=) rs2134776744
NM_002334.4(LRP4):c.489G>A (p.Glu163=) rs1941618309
NM_002334.4(LRP4):c.4952-10T>C
NM_002334.4(LRP4):c.4952-17T>C
NM_002334.4(LRP4):c.4952-19A>G rs772798728
NM_002334.4(LRP4):c.4952-20C>A
NM_002334.4(LRP4):c.5016C>A (p.Pro1672=) rs2134774940
NM_002334.4(LRP4):c.5049C>T (p.Thr1683=)
NM_002334.4(LRP4):c.507T>A (p.Gly169=) rs2134863376
NM_002334.4(LRP4):c.5087+12C>T
NM_002334.4(LRP4):c.5087+13A>G
NM_002334.4(LRP4):c.5087+14A>T rs376251083
NM_002334.4(LRP4):c.5088-6C>T
NM_002334.4(LRP4):c.5110C>T (p.Leu1704=)
NM_002334.4(LRP4):c.5136C>T (p.Asp1712=)
NM_002334.4(LRP4):c.513C>T (p.Thr171=)
NM_002334.4(LRP4):c.5155+16C>T
NM_002334.4(LRP4):c.5155+20C>G
NM_002334.4(LRP4):c.5156-11A>G
NM_002334.4(LRP4):c.5244-6C>T
NM_002334.4(LRP4):c.5265T>G (p.Thr1755=)
NM_002334.4(LRP4):c.5298C>T (p.Asn1766=) rs2134760244
NM_002334.4(LRP4):c.53-12C>G
NM_002334.4(LRP4):c.53-15T>C
NM_002334.4(LRP4):c.53-6G>A
NM_002334.4(LRP4):c.5307C>T (p.Tyr1769=)
NM_002334.4(LRP4):c.5308C>A (p.Arg1770=)
NM_002334.4(LRP4):c.5316C>T (p.Ser1772=) rs750830696
NM_002334.4(LRP4):c.5319A>G (p.Thr1773=)
NM_002334.4(LRP4):c.5386-4C>G
NM_002334.4(LRP4):c.5409C>T (p.Thr1803=)
NM_002334.4(LRP4):c.547+14G>A
NM_002334.4(LRP4):c.547+14G>C rs1243797516
NM_002334.4(LRP4):c.548-19A>T
NM_002334.4(LRP4):c.5493C>T (p.Ser1831=) rs911721294
NM_002334.4(LRP4):c.5499G>C (p.Arg1833=) rs2134750971
NM_002334.4(LRP4):c.5505C>G (p.Gly1835=)
NM_002334.4(LRP4):c.5508C>T (p.Leu1836=)
NM_002334.4(LRP4):c.5532G>A (p.Lys1844=)
NM_002334.4(LRP4):c.5538C>T (p.Asp1846=)
NM_002334.4(LRP4):c.5541G>T (p.Thr1847=)
NM_002334.4(LRP4):c.5550C>T (p.Ile1850=)
NM_002334.4(LRP4):c.5610G>A (p.Gln1870=)
NM_002334.4(LRP4):c.5613T>C (p.Ser1871=)
NM_002334.4(LRP4):c.5715C>G (p.Val1905=) rs2134750322
NM_002334.4(LRP4):c.591G>A (p.Gln197=) rs1199299804
NM_002334.4(LRP4):c.600T>C (p.Tyr200=)
NM_002334.4(LRP4):c.624C>T (p.Tyr208=)
NM_002334.4(LRP4):c.677-13T>C
NM_002334.4(LRP4):c.677-6C>T
NM_002334.4(LRP4):c.677-7T>G rs1244833731
NM_002334.4(LRP4):c.69C>G (p.Pro23=)
NM_002334.4(LRP4):c.69C>T (p.Pro23=) rs370359994
NM_002334.4(LRP4):c.708C>T (p.Phe236=) rs2134861393
NM_002334.4(LRP4):c.717C>T (p.Asp239=)
NM_002334.4(LRP4):c.762G>A (p.Ala254=)
NM_002334.4(LRP4):c.774C>T (p.Asp258=) rs2134861192
NM_002334.4(LRP4):c.786G>A (p.Glu262=)
NM_002334.4(LRP4):c.796+18A>T
NM_002334.4(LRP4):c.796+20T>C
NM_002334.4(LRP4):c.796+7G>A
NM_002334.4(LRP4):c.798C>T (p.Thr266=) rs2134856058
NM_002334.4(LRP4):c.873G>A (p.Gly291=)
NM_002334.4(LRP4):c.879C>T (p.Asp293=)
NM_002334.4(LRP4):c.897C>T (p.Ser299=)
NM_002334.4(LRP4):c.922+13G>C
NM_002334.4(LRP4):c.923-11C>T
NM_002334.4(LRP4):c.923-14del
NM_002334.4(LRP4):c.923-8C>T
NM_002334.4(LRP4):c.996C>T (p.Asn332=)
NM_005055.5(RAPSN):c.1017A>G (p.Lys339=)
NM_005055.5(RAPSN):c.1020G>A (p.Gly340=)
NM_005055.5(RAPSN):c.102G>A (p.Glu34=) rs2076432091
NM_005055.5(RAPSN):c.1033C>T (p.Leu345=) rs778622975
NM_005055.5(RAPSN):c.1047T>C (p.Val349=)
NM_005055.5(RAPSN):c.1050G>A (p.Val350=)
NM_005055.5(RAPSN):c.1050G>C (p.Val350=)
NM_005055.5(RAPSN):c.1059C>T (p.His353=) rs544722226
NM_005055.5(RAPSN):c.105G>A (p.Lys35=) rs2153311746
NM_005055.5(RAPSN):c.1071G>A (p.Glu357=)
NM_005055.5(RAPSN):c.1074G>A (p.Glu358=)
NM_005055.5(RAPSN):c.1077G>C (p.Thr359=)
NM_005055.5(RAPSN):c.1077G>T (p.Thr359=) rs565321918
NM_005055.5(RAPSN):c.1086C>T (p.Tyr362=) rs763018407
NM_005055.5(RAPSN):c.108C>T (p.Ser36=)
NM_005055.5(RAPSN):c.1116G>A (p.Glu372=) rs2153306751
NM_005055.5(RAPSN):c.1128G>A (p.Arg376=) rs1194287140
NM_005055.5(RAPSN):c.1131G>A (p.Leu377=) rs2076335581
NM_005055.5(RAPSN):c.1137C>T (p.Ala379=)
NM_005055.5(RAPSN):c.1138C>T (p.Leu380=)
NM_005055.5(RAPSN):c.1140A>C (p.Leu380=)
NM_005055.5(RAPSN):c.1149C>T (p.Ser383=) rs765481657
NM_005055.5(RAPSN):c.1164C>T (p.Leu388=)
NM_005055.5(RAPSN):c.1166+10C>G
NM_005055.5(RAPSN):c.1166+10C>T
NM_005055.5(RAPSN):c.1166+13G>A
NM_005055.5(RAPSN):c.1166+13G>T
NM_005055.5(RAPSN):c.1166+14G>A
NM_005055.5(RAPSN):c.1166+14G>C
NM_005055.5(RAPSN):c.1166+15G>A rs556595562
NM_005055.5(RAPSN):c.1166+15G>C rs556595562
NM_005055.5(RAPSN):c.1166+15G>T
NM_005055.5(RAPSN):c.1166+16G>T
NM_005055.5(RAPSN):c.1166+17G>A
NM_005055.5(RAPSN):c.1166+18G>C
NM_005055.5(RAPSN):c.1166+19G>A
NM_005055.5(RAPSN):c.1166+7G>A
NM_005055.5(RAPSN):c.1166+7G>T rs1395269562
NM_005055.5(RAPSN):c.1167-12T>C
NM_005055.5(RAPSN):c.1167-20A>G
NM_005055.5(RAPSN):c.1167-8C>T
NM_005055.5(RAPSN):c.1167-9C>T
NM_005055.5(RAPSN):c.1170C>T (p.Cys390=) rs2153306281
NM_005055.5(RAPSN):c.1171C>T (p.Leu391=)
NM_005055.5(RAPSN):c.1185G>A (p.Gly395=)
NM_005055.5(RAPSN):c.1189C>A (p.Arg397=)
NM_005055.5(RAPSN):c.1218C>T (p.Ser406=)
NM_005055.5(RAPSN):c.1236A>G (p.Val412=)
NM_005055.5(RAPSN):c.123G>A (p.Gly41=)
NM_005055.5(RAPSN):c.156C>A (p.Ala52=)
NM_005055.5(RAPSN):c.156C>T (p.Ala52=)
NM_005055.5(RAPSN):c.171C>T (p.Gly57=)
NM_005055.5(RAPSN):c.174C>A (p.Arg58=) rs2153311690
NM_005055.5(RAPSN):c.180G>A (p.Lys60=)
NM_005055.5(RAPSN):c.183G>A (p.Glu61=)
NM_005055.5(RAPSN):c.189G>A (p.Leu63=)
NM_005055.5(RAPSN):c.192+10C>A rs1202888760
NM_005055.5(RAPSN):c.192+10C>T rs1202888760
NM_005055.5(RAPSN):c.192+11C>T
NM_005055.5(RAPSN):c.192+12del
NM_005055.5(RAPSN):c.192+13G>A
NM_005055.5(RAPSN):c.192+17T>C
NM_005055.5(RAPSN):c.192+7G>A
NM_005055.5(RAPSN):c.192+8T>C rs759724477
NM_005055.5(RAPSN):c.192+9dup rs2153311675
NM_005055.5(RAPSN):c.193-10C>T rs2153311437
NM_005055.5(RAPSN):c.193-11G>A
NM_005055.5(RAPSN):c.193-12C>T
NM_005055.5(RAPSN):c.193-16C>A
NM_005055.5(RAPSN):c.193-16C>T
NM_005055.5(RAPSN):c.193-17A>C
NM_005055.5(RAPSN):c.193-18C>T
NM_005055.5(RAPSN):c.193-4G>A
NM_005055.5(RAPSN):c.193-8G>T
NM_005055.5(RAPSN):c.198T>G (p.Ala66=) rs1131389
NM_005055.5(RAPSN):c.210C>A (p.Ile70=)
NM_005055.5(RAPSN):c.226C>T (p.Leu76=)
NM_005055.5(RAPSN):c.228G>A (p.Leu76=) rs2153311384
NM_005055.5(RAPSN):c.246C>G (p.Leu82=) rs780420252
NM_005055.5(RAPSN):c.249G>A (p.Leu83=)
NM_005055.5(RAPSN):c.258C>T (p.Tyr86=)
NM_005055.5(RAPSN):c.259C>T (p.Leu87=)
NM_005055.5(RAPSN):c.265C>T (p.Leu89=)
NM_005055.5(RAPSN):c.273C>G (p.Arg91=)
NM_005055.5(RAPSN):c.279C>T (p.Asn93=) rs901210204
NM_005055.5(RAPSN):c.27G>A (p.Gln9=) rs1452323802
NM_005055.5(RAPSN):c.282G>A (p.Glu94=) rs2153311324
NM_005055.5(RAPSN):c.286C>T (p.Leu96=)
NM_005055.5(RAPSN):c.294G>A (p.Glu98=) rs1331228474
NM_005055.5(RAPSN):c.30C>A (p.Ile10=) rs768838402
NM_005055.5(RAPSN):c.327C>T (p.Cys109=) rs769245608
NM_005055.5(RAPSN):c.333G>T (p.Gly111=) rs2153311277
NM_005055.5(RAPSN):c.336G>A (p.Leu112=)
NM_005055.5(RAPSN):c.336G>T (p.Leu112=) rs747080013
NM_005055.5(RAPSN):c.339T>C (p.Pro113=)
NM_005055.5(RAPSN):c.345C>T (p.Thr115=)
NM_005055.5(RAPSN):c.354T>G (p.Gly118=)
NM_005055.5(RAPSN):c.357C>T (p.Ala119=) rs1595902752
NM_005055.5(RAPSN):c.360G>A (p.Gln120=)
NM_005055.5(RAPSN):c.363C>G (p.Leu121=) rs190548363
NM_005055.5(RAPSN):c.369C>T (p.Gly123=)
NM_005055.5(RAPSN):c.375C>T (p.Val125=)
NM_005055.5(RAPSN):c.379C>T (p.Leu127=)
NM_005055.5(RAPSN):c.39G>T (p.Gly13=) rs770689515
NM_005055.5(RAPSN):c.411C>T (p.Ser137=)
NM_005055.5(RAPSN):c.423G>A (p.Lys141=) rs2153311227
NM_005055.5(RAPSN):c.441G>A (p.Glu147=)
NM_005055.5(RAPSN):c.447C>T (p.Ala149=) rs2153311191
NM_005055.5(RAPSN):c.450G>A (p.Leu150=)
NM_005055.5(RAPSN):c.456_457delinsCT (p.Ala153Ser) rs1595902592
NM_005055.5(RAPSN):c.457G>T (p.Ala153Ser) rs142635726
NM_005055.5(RAPSN):c.459C>T (p.Ala153=) rs780030892
NM_005055.5(RAPSN):c.471T>C (p.Asp157=)
NM_005055.5(RAPSN):c.489C>T (p.Cys163=) rs1202436612
NM_005055.5(RAPSN):c.48G>A (p.Leu16=) rs2076432806
NM_005055.5(RAPSN):c.492C>A (p.Arg164=) rs146237774
NM_005055.5(RAPSN):c.495G>A (p.Val165=)
NM_005055.5(RAPSN):c.495G>C (p.Val165=)
NM_005055.5(RAPSN):c.504C>T (p.Ser168=) rs2153311137
NM_005055.5(RAPSN):c.510C>G (p.Gly170=) rs1335659789
NM_005055.5(RAPSN):c.510C>T (p.Gly170=)
NM_005055.5(RAPSN):c.522C>T (p.Ala174=)
NM_005055.5(RAPSN):c.531+15C>G
NM_005055.5(RAPSN):c.531+17G>A
NM_005055.5(RAPSN):c.531+17G>C
NM_005055.5(RAPSN):c.531+18G>A
NM_005055.5(RAPSN):c.531+19G>C
NM_005055.5(RAPSN):c.531+20G>A
NM_005055.5(RAPSN):c.531+7C>G
NM_005055.5(RAPSN):c.531+8T>G rs2153311112
NM_005055.5(RAPSN):c.532-17T>C
NM_005055.5(RAPSN):c.532-19C>T
NM_005055.5(RAPSN):c.532-4G>A rs553983766
NM_005055.5(RAPSN):c.532-5T>C rs1296891027
NM_005055.5(RAPSN):c.532-8C>T
NM_005055.5(RAPSN):c.537C>T (p.Tyr179=) rs1015604630
NM_005055.5(RAPSN):c.549G>C (p.Leu183=) rs1595899529
NM_005055.5(RAPSN):c.54G>A (p.Gln18=) rs2153311774
NM_005055.5(RAPSN):c.558C>G (p.Pro186=)
NM_005055.5(RAPSN):c.570A>G (p.Ala190=) rs1437018541
NM_005055.5(RAPSN):c.570A>T (p.Ala190=)
NM_005055.5(RAPSN):c.573G>A (p.Glu191=)
NM_005055.5(RAPSN):c.609G>A (p.Lys203=) rs2153309106
NM_005055.5(RAPSN):c.612C>T (p.Tyr204=)
NM_005055.5(RAPSN):c.639C>T (p.Ala213=)
NM_005055.5(RAPSN):c.648T>C (p.Tyr216=)
NM_005055.5(RAPSN):c.664C>T (p.Leu222=)
NM_005055.5(RAPSN):c.669C>T (p.Gly223=) rs1168766907
NM_005055.5(RAPSN):c.66A>C (p.Thr22=)
NM_005055.5(RAPSN):c.66A>G (p.Thr22=)
NM_005055.5(RAPSN):c.675C>T (p.Ala225=)
NM_005055.5(RAPSN):c.690+10C>G rs78293924
NM_005055.5(RAPSN):c.690+11G>A
NM_005055.5(RAPSN):c.690+14G>A
NM_005055.5(RAPSN):c.690+18G>A
NM_005055.5(RAPSN):c.691-10del
NM_005055.5(RAPSN):c.691-11C>T
NM_005055.5(RAPSN):c.691-16C>G
NM_005055.5(RAPSN):c.691-20G>A
NM_005055.5(RAPSN):c.691-4G>A
NM_005055.5(RAPSN):c.691-4G>T rs886048388
NM_005055.5(RAPSN):c.691-7C>A rs2153308712
NM_005055.5(RAPSN):c.691-7del
NM_005055.5(RAPSN):c.709C>T (p.Leu237=)
NM_005055.5(RAPSN):c.714G>A (p.Gln238=) rs2153308678
NM_005055.5(RAPSN):c.735G>A (p.Gln245=)
NM_005055.5(RAPSN):c.738G>T (p.Ala246=) rs889862832
NM_005055.5(RAPSN):c.744C>T (p.Cys248=) rs780224551
NM_005055.5(RAPSN):c.745C>T (p.Leu249=)
NM_005055.5(RAPSN):c.747G>C (p.Leu249=) rs1398686820
NM_005055.5(RAPSN):c.750C>T (p.Leu250=) rs2153308626
NM_005055.5(RAPSN):c.75A>G (p.Ala25=)
NM_005055.5(RAPSN):c.765C>A (p.Ile255=) rs1432435738
NM_005055.5(RAPSN):c.768C>T (p.His256=) rs757302008
NM_005055.5(RAPSN):c.76T>C (p.Leu26=) rs202091676
NM_005055.5(RAPSN):c.774C>T (p.Ser258=) rs2153308610
NM_005055.5(RAPSN):c.783C>T (p.Asp261=) rs2076367030
NM_005055.5(RAPSN):c.784C>T (p.Leu262=)
NM_005055.5(RAPSN):c.789+11C>G
NM_005055.5(RAPSN):c.789+11C>T
NM_005055.5(RAPSN):c.789+12G>A
NM_005055.5(RAPSN):c.789+17G>T
NM_005055.5(RAPSN):c.789+8C>G
NM_005055.5(RAPSN):c.789_789+15dup rs780882080
NM_005055.5(RAPSN):c.78G>A (p.Leu26=) rs750811979
NM_005055.5(RAPSN):c.790-12C>G
NM_005055.5(RAPSN):c.790-13C>T
NM_005055.5(RAPSN):c.790-15C>A
NM_005055.5(RAPSN):c.790-15C>G rs752816353
NM_005055.5(RAPSN):c.790-15C>T
NM_005055.5(RAPSN):c.790-17C>G
NM_005055.5(RAPSN):c.790-17C>T
NM_005055.5(RAPSN):c.790-19C>A
NM_005055.5(RAPSN):c.790-6C>T rs2076365864
NM_005055.5(RAPSN):c.790-9G>C
NM_005055.5(RAPSN):c.798C>T (p.Phe266=) rs1487536762
NM_005055.5(RAPSN):c.807C>T (p.Tyr269=) rs104894301
NM_005055.5(RAPSN):c.822C>T (p.Ser274=)
NM_005055.5(RAPSN):c.825C>T (p.Ile275=)
NM_005055.5(RAPSN):c.831C>A (p.Thr277=) rs148078235
NM_005055.5(RAPSN):c.834G>A (p.Glu278=)
NM_005055.5(RAPSN):c.837C>T (p.Ile279=) rs755310896
NM_005055.5(RAPSN):c.846C>T (p.Arg282=) rs1595898465
NM_005055.5(RAPSN):c.847C>T (p.Leu283=) rs761730497
NM_005055.5(RAPSN):c.864G>T (p.Ala288=)
NM_005055.5(RAPSN):c.865C>T (p.Leu289=) rs2153308454
NM_005055.5(RAPSN):c.867G>A (p.Leu289=)
NM_005055.5(RAPSN):c.868C>T (p.Leu290=)
NM_005055.5(RAPSN):c.894C>T (p.Ala298=)
NM_005055.5(RAPSN):c.897G>A (p.Arg299=)
NM_005055.5(RAPSN):c.903G>T (p.Ala301=)
NM_005055.5(RAPSN):c.912+11G>A
NM_005055.5(RAPSN):c.912+15T>C
NM_005055.5(RAPSN):c.912+18C>T
NM_005055.5(RAPSN):c.912+9G>A rs751790521
NM_005055.5(RAPSN):c.912+9G>C
NM_005055.5(RAPSN):c.912+9G>T rs751790521
NM_005055.5(RAPSN):c.913-4C>T
NM_005055.5(RAPSN):c.913-7del
NM_005055.5(RAPSN):c.913-8C>A rs2153308235
NM_005055.5(RAPSN):c.915T>C (p.Ala305=)
NM_005055.5(RAPSN):c.916C>T (p.Leu306=) rs1262478144
NM_005055.5(RAPSN):c.924C>T (p.Ala308=)
NM_005055.5(RAPSN):c.948C>A (p.Ala316=) rs374676714
NM_005055.5(RAPSN):c.966+14C>G
NM_005055.5(RAPSN):c.966+19T>C
NM_005055.5(RAPSN):c.966+7C>G rs1595898047
NM_005055.5(RAPSN):c.966+7C>T
NM_005055.5(RAPSN):c.967-19C>G
NM_005055.5(RAPSN):c.967-20T>C
NM_005055.5(RAPSN):c.967-4C>G
NM_005055.5(RAPSN):c.967-5C>A
NM_005055.5(RAPSN):c.967-5C>T rs374686678
NM_005055.5(RAPSN):c.967-6C>A
NM_005055.5(RAPSN):c.967-7G>A
NM_005055.5(RAPSN):c.967-7G>C rs1374385127
NM_005055.5(RAPSN):c.967-7G>T rs1374385127
NM_005055.5(RAPSN):c.967-9G>C
NM_005055.5(RAPSN):c.96G>T (p.Val32=) rs2076432156
NM_005055.5(RAPSN):c.972C>T (p.Ser324=) rs2076338821
NM_005055.5(RAPSN):c.975G>A (p.Gln325=) rs528431446
NM_005055.5(RAPSN):c.984G>A (p.Leu328=)
NM_005055.5(RAPSN):c.984G>T (p.Leu328=) rs1469910398
NM_005055.5(RAPSN):c.991C>T (p.Leu331=) rs1595896703
NM_005055.5(RAPSN):c.993G>T (p.Leu331=) rs867698000
NM_005055.5(RAPSN):c.996C>T (p.Ser332=)
NM_005055.5(RAPSN):c.999G>A (p.Glu333=)
NM_005055.5(RAPSN):c.99G>A (p.Leu33=) rs2153311752
NM_005592.4(MUSK):c.1005T>A (p.Val335=)
NM_005592.4(MUSK):c.1044A>G (p.Gln348=)
NM_005592.4(MUSK):c.1056C>T (p.Val352=)
NM_005592.4(MUSK):c.1065C>G (p.Ala355=)
NM_005592.4(MUSK):c.108A>G (p.Thr36=)
NM_005592.4(MUSK):c.1098C>T (p.Cys366=)
NM_005592.4(MUSK):c.1131C>T (p.His377=)
NM_005592.4(MUSK):c.117C>T (p.Ala39=)
NM_005592.4(MUSK):c.1184+10C>G rs2131956685
NM_005592.4(MUSK):c.1184+15A>C
NM_005592.4(MUSK):c.1184+20T>C
NM_005592.4(MUSK):c.1185-12A>G
NM_005592.4(MUSK):c.1185-14del
NM_005592.4(MUSK):c.1185-15C>T
NM_005592.4(MUSK):c.1185-17T>A
NM_005592.4(MUSK):c.1185-19T>A
NM_005592.4(MUSK):c.1185-19T>C
NM_005592.4(MUSK):c.1185-7A>G
NM_005592.4(MUSK):c.1185-8T>G rs371124725
NM_005592.4(MUSK):c.1185-9C>T
NM_005592.4(MUSK):c.1197G>A (p.Leu399=)
NM_005592.4(MUSK):c.1203A>G (p.Val401=) rs1356218784
NM_005592.4(MUSK):c.1212C>A (p.Leu404=)
NM_005592.4(MUSK):c.1218C>T (p.Cys406=) rs368395413
NM_005592.4(MUSK):c.1224A>G (p.Lys408=) rs1588025437
NM_005592.4(MUSK):c.1233G>A (p.Leu411=)
NM_005592.4(MUSK):c.1266C>T (p.Tyr422=)
NM_005592.4(MUSK):c.1287G>C (p.Leu429=)
NM_005592.4(MUSK):c.12C>A (p.Leu4=) rs374456998
NM_005592.4(MUSK):c.12C>G (p.Leu4=)
NM_005592.4(MUSK):c.12C>T (p.Leu4=) rs374456998
NM_005592.4(MUSK):c.132G>A (p.Val44=)
NM_005592.4(MUSK):c.1360+11G>C
NM_005592.4(MUSK):c.1360+13T>C
NM_005592.4(MUSK):c.1360+14C>T
NM_005592.4(MUSK):c.1360+18C>T
NM_005592.4(MUSK):c.1360+20A>G
NM_005592.4(MUSK):c.1360+7C>G
NM_005592.4(MUSK):c.1360+7_1360+8del rs780843719
NM_005592.4(MUSK):c.1361-13C>A
NM_005592.4(MUSK):c.1361-7C>T
NM_005592.4(MUSK):c.1377C>T (p.Asn459=)
NM_005592.4(MUSK):c.1384+12T>C
NM_005592.4(MUSK):c.1384+14T>C
NM_005592.4(MUSK):c.1384+20C>G
NM_005592.4(MUSK):c.1384+9T>C
NM_005592.4(MUSK):c.1385-12C>A
NM_005592.4(MUSK):c.1386A>G (p.Thr462=)
NM_005592.4(MUSK):c.1401G>A (p.Thr467=)
NM_005592.4(MUSK):c.1401G>T (p.Thr467=) rs761610023
NM_005592.4(MUSK):c.1416T>C (p.Ser472=)
NM_005592.4(MUSK):c.141C>T (p.Phe47=)
NM_005592.4(MUSK):c.1434G>A (p.Leu478=)
NM_005592.4(MUSK):c.1446C>G (p.Ser482=) rs754903785
NM_005592.4(MUSK):c.1452T>C (p.Ser484=) rs1588037471
NM_005592.4(MUSK):c.1455C>T (p.Ser485=)
NM_005592.4(MUSK):c.1461T>C (p.Ser487=)
NM_005592.4(MUSK):c.1473A>G (p.Thr491=)
NM_005592.4(MUSK):c.147T>C (p.Cys49=)
NM_005592.4(MUSK):c.1545C>T (p.Leu515=) rs868435163
NM_005592.4(MUSK):c.1586+12G>A
NM_005592.4(MUSK):c.1586+15dup
NM_005592.4(MUSK):c.1586+16C>T
NM_005592.4(MUSK):c.1586+7T>C
NM_005592.4(MUSK):c.1586+8T>C
NM_005592.4(MUSK):c.1587-14T>C
NM_005592.4(MUSK):c.1587-16C>T
NM_005592.4(MUSK):c.1587-5T>G
NM_005592.4(MUSK):c.1587-8G>C rs980952719
NM_005592.4(MUSK):c.1599A>G (p.Ala533=)
NM_005592.4(MUSK):c.1605C>A (p.Thr535=)
NM_005592.4(MUSK):c.1605C>T (p.Thr535=) rs760645831
NM_005592.4(MUSK):c.1611C>T (p.Thr537=)
NM_005592.4(MUSK):c.1615C>T (p.Leu539=)
NM_005592.4(MUSK):c.1623T>C (p.Ser541=)
NM_005592.4(MUSK):c.162C>T (p.Tyr54=)
NM_005592.4(MUSK):c.1638T>C (p.Asp546=)
NM_005592.4(MUSK):c.165C>T (p.Pro55=) rs766600402
NM_005592.4(MUSK):c.1689C>T (p.Pro563=) rs376052538
NM_005592.4(MUSK):c.1693T>C (p.Leu565=) rs200787064
NM_005592.4(MUSK):c.1698C>G (p.Leu566=)
NM_005592.4(MUSK):c.1704G>T (p.Leu568=) rs2077843780
NM_005592.4(MUSK):c.1707G>A (p.Glu569=)
NM_005592.4(MUSK):c.1722C>T (p.Asn574=)
NM_005592.4(MUSK):c.1734G>A (p.Val578=)
NM_005592.4(MUSK):c.1743C>T (p.Ile581=)
NM_005592.4(MUSK):c.1749G>A (p.Glu583=)
NM_005592.4(MUSK):c.174G>A (p.Glu58=)
NM_005592.4(MUSK):c.1778+18A>G
NM_005592.4(MUSK):c.1778+19A>C
NM_005592.4(MUSK):c.1778+25dup rs200937545
NM_005592.4(MUSK):c.1778+7T>C rs1021982098
NM_005592.4(MUSK):c.1779-16T>C
NM_005592.4(MUSK):c.1779-20T>C
NM_005592.4(MUSK):c.1788C>T (p.Gly596=)
NM_005592.4(MUSK):c.1789T>C (p.Leu597=)
NM_005592.4(MUSK):c.1818G>A (p.Val606=) rs2132034695
NM_005592.4(MUSK):c.1833C>A (p.Leu611=)
NM_005592.4(MUSK):c.1848G>A (p.Ser616=)
NM_005592.4(MUSK):c.1927+12C>A
NM_005592.4(MUSK):c.1927+17G>C
NM_005592.4(MUSK):c.1927+19G>A
NM_005592.4(MUSK):c.1927+8A>C
NM_005592.4(MUSK):c.1928-14T>C
NM_005592.4(MUSK):c.1928-14T>G
NM_005592.4(MUSK):c.1928-20G>T
NM_005592.4(MUSK):c.1928-4C>T
NM_005592.4(MUSK):c.1928-8G>C
NM_005592.4(MUSK):c.1965T>C (p.Phe655=)
NM_005592.4(MUSK):c.1980T>C (p.Tyr660=)
NM_005592.4(MUSK):c.2007C>T (p.Ser669=)
NM_005592.4(MUSK):c.2013C>G (p.Ser671=) rs1564300316
NM_005592.4(MUSK):c.2013C>T (p.Ser671=) rs1564300316
NM_005592.4(MUSK):c.2022C>T (p.Thr674=) rs772683882
NM_005592.4(MUSK):c.2031C>T (p.Ser677=)
NM_005592.4(MUSK):c.2058G>A (p.Arg686=) rs2132066129
NM_005592.4(MUSK):c.206+12A>T
NM_005592.4(MUSK):c.206+19_206+23del
NM_005592.4(MUSK):c.206+20A>T
NM_005592.4(MUSK):c.207-11G>A
NM_005592.4(MUSK):c.207-11G>C
NM_005592.4(MUSK):c.207-16T>C
NM_005592.4(MUSK):c.2079G>C (p.Gly693=)
NM_005592.4(MUSK):c.2082C>G (p.Pro694=)
NM_005592.4(MUSK):c.2082C>T (p.Pro694=) rs201616041
NM_005592.4(MUSK):c.2088C>A (p.Pro696=) rs751434801
NM_005592.4(MUSK):c.2103G>A (p.Glu701=)
NM_005592.4(MUSK):c.210C>A (p.Leu70=)
NM_005592.4(MUSK):c.2112C>T (p.Cys704=)
NM_005592.4(MUSK):c.2136C>T (p.Gly712=)
NM_005592.4(MUSK):c.2196G>A (p.Leu732=)
NM_005592.4(MUSK):c.2208C>T (p.Asn736=)
NM_005592.4(MUSK):c.2226C>T (p.Ala742=)
NM_005592.4(MUSK):c.222G>C (p.Arg74=)
NM_005592.4(MUSK):c.2256A>T (p.Ser752=)
NM_005592.4(MUSK):c.2274T>G (p.Ala758=)
NM_005592.4(MUSK):c.2277T>C (p.Asn759=) rs2132067450
NM_005592.4(MUSK):c.2289T>A (p.Ala763=)
NM_005592.4(MUSK):c.228C>T (p.Ser76=) rs768514590
NM_005592.4(MUSK):c.2292C>A (p.Ile764=)
NM_005592.4(MUSK):c.2292C>T (p.Ile764=) rs560916681
NM_005592.4(MUSK):c.232C>A (p.Arg78=) rs747987063
NM_005592.4(MUSK):c.234G>A (p.Arg78=)
NM_005592.4(MUSK):c.2355G>T (p.Val785=)
NM_005592.4(MUSK):c.2367C>T (p.Gly789=)
NM_005592.4(MUSK):c.2382G>A (p.Glu794=)
NM_005592.4(MUSK):c.2394T>C (p.Tyr798=)
NM_005592.4(MUSK):c.2398C>T (p.Leu800=) rs1303813392
NM_005592.4(MUSK):c.240T>C (p.Asn80=)
NM_005592.4(MUSK):c.2443G>T (p.Val815Leu) rs551520537
NM_005592.4(MUSK):c.2451T>C (p.Asp817=)
NM_005592.4(MUSK):c.2457C>T (p.Asn819=)
NM_005592.4(MUSK):c.2463C>T (p.Leu821=)
NM_005592.4(MUSK):c.2481C>T (p.Cys827=)
NM_005592.4(MUSK):c.2493G>A (p.Leu831=)
NM_005592.4(MUSK):c.2496C>T (p.Tyr832=)
NM_005592.4(MUSK):c.2511A>G (p.Leu837=) rs1447190013
NM_005592.4(MUSK):c.252C>G (p.Leu84=)
NM_005592.4(MUSK):c.255C>T (p.Thr85=)
NM_005592.4(MUSK):c.276T>C (p.Ser92=)
NM_005592.4(MUSK):c.282T>C (p.Asp94=)
NM_005592.4(MUSK):c.300G>C (p.Thr100=) rs180928221
NM_005592.4(MUSK):c.309T>C (p.Asn103=)
NM_005592.4(MUSK):c.30A>G (p.Val10=)
NM_005592.4(MUSK):c.315G>C (p.Val105=)
NM_005592.4(MUSK):c.33T>C (p.His11=)
NM_005592.4(MUSK):c.342C>A (p.Ala114=)
NM_005592.4(MUSK):c.351G>T (p.Val117=)
NM_005592.4(MUSK):c.358+17T>C
NM_005592.4(MUSK):c.358+18T>C
NM_005592.4(MUSK):c.358+19C>A
NM_005592.4(MUSK):c.358+20G>C
NM_005592.4(MUSK):c.358+9G>A
NM_005592.4(MUSK):c.359-16T>G
NM_005592.4(MUSK):c.359-7T>A
NM_005592.4(MUSK):c.360A>G (p.Lys120=)
NM_005592.4(MUSK):c.375T>C (p.Arg125=) rs2131713591
NM_005592.4(MUSK):c.417C>G (p.Val139=)
NM_005592.4(MUSK):c.444C>T (p.Pro148=)
NM_005592.4(MUSK):c.471A>G (p.Gly157=)
NM_005592.4(MUSK):c.484A>C (p.Arg162=)
NM_005592.4(MUSK):c.486+16G>A
NM_005592.4(MUSK):c.487-17G>A
NM_005592.4(MUSK):c.487-18C>T
NM_005592.4(MUSK):c.487-9C>T
NM_005592.4(MUSK):c.496C>A (p.Arg166=)
NM_005592.4(MUSK):c.513A>G (p.Glu171=)
NM_005592.4(MUSK):c.573G>A (p.Val191=)
NM_005592.4(MUSK):c.588C>T (p.Leu196=)
NM_005592.4(MUSK):c.597A>G (p.Ala199=)
NM_005592.4(MUSK):c.600T>C (p.Tyr200=)
NM_005592.4(MUSK):c.609G>A (p.Val203=) rs762882154
NM_005592.4(MUSK):c.628+11G>A
NM_005592.4(MUSK):c.629-10T>C rs753538572
NM_005592.4(MUSK):c.629-16del
NM_005592.4(MUSK):c.629-18C>T
NM_005592.4(MUSK):c.629-6T>C
NM_005592.4(MUSK):c.629-7C>T
NM_005592.4(MUSK):c.63T>C (p.Thr21=)
NM_005592.4(MUSK):c.646C>A (p.Arg216=)
NM_005592.4(MUSK):c.648G>C (p.Arg216=)
NM_005592.4(MUSK):c.675T>C (p.Phe225=)
NM_005592.4(MUSK):c.699T>C (p.Cys233=)
NM_005592.4(MUSK):c.708A>G (p.Thr236=)
NM_005592.4(MUSK):c.726C>A (p.Thr242=)
NM_005592.4(MUSK):c.738T>A (p.Ile246=)
NM_005592.4(MUSK):c.753+11T>C
NM_005592.4(MUSK):c.753+15T>C
NM_005592.4(MUSK):c.753+20G>A
NM_005592.4(MUSK):c.753+8T>C
NM_005592.4(MUSK):c.754-4T>C
NM_005592.4(MUSK):c.754-5G>C rs991886956
NM_005592.4(MUSK):c.754-6T>G
NM_005592.4(MUSK):c.754-9C>T
NM_005592.4(MUSK):c.759T>C (p.Ser253=)
NM_005592.4(MUSK):c.765G>A (p.Gly255=)
NM_005592.4(MUSK):c.768C>T (p.Ser256=)
NM_005592.4(MUSK):c.780T>C (p.Ser260=) rs886063353
NM_005592.4(MUSK):c.79+14A>G
NM_005592.4(MUSK):c.79+15T>C
NM_005592.4(MUSK):c.79+16C>T
NM_005592.4(MUSK):c.79+17G>A
NM_005592.4(MUSK):c.79+20T>C
NM_005592.4(MUSK):c.79+7T>C
NM_005592.4(MUSK):c.790C>A (p.Arg264=)
NM_005592.4(MUSK):c.795G>A (p.Val265=)
NM_005592.4(MUSK):c.80-15C>A
NM_005592.4(MUSK):c.80-19A>T
NM_005592.4(MUSK):c.80-7C>A
NM_005592.4(MUSK):c.80-7_80-3del
NM_005592.4(MUSK):c.80-9T>C
NM_005592.4(MUSK):c.804A>C (p.Ser268=)
NM_005592.4(MUSK):c.807A>G (p.Arg269=)
NM_005592.4(MUSK):c.831A>G (p.Pro277=)
NM_005592.4(MUSK):c.843A>C (p.Thr281=)
NM_005592.4(MUSK):c.855C>G (p.Thr285=)
NM_005592.4(MUSK):c.858T>C (p.Asn286=)
NM_005592.4(MUSK):c.861G>A (p.Lys287=)
NM_005592.4(MUSK):c.864T>C (p.His288=)
NM_005592.4(MUSK):c.879T>C (p.Ser293=)
NM_005592.4(MUSK):c.882T>A (p.Thr294=)
NM_005592.4(MUSK):c.900C>T (p.Thr300=)
NM_005592.4(MUSK):c.90C>T (p.Ile30=)
NM_005592.4(MUSK):c.913+10C>T
NM_005592.4(MUSK):c.913+11C>T
NM_005592.4(MUSK):c.913+13T>C
NM_005592.4(MUSK):c.913+9C>T
NM_005592.4(MUSK):c.914-10C>A
NM_005592.4(MUSK):c.914-5A>G
NM_005592.4(MUSK):c.920+10T>C rs781462535
NM_005592.4(MUSK):c.920+11G>A
NM_005592.4(MUSK):c.920+11_920+12del
NM_005592.4(MUSK):c.920+20del
NM_005592.4(MUSK):c.920+9C>T rs2131931808
NM_005592.4(MUSK):c.921-18_921-16del
NM_005592.4(MUSK):c.921-7C>T rs2131955302
NM_005592.4(MUSK):c.954C>A (p.Ala318=) rs968145791
NM_005592.4(MUSK):c.954C>G (p.Ala318=) rs968145791
NM_005592.4(MUSK):c.990A>G (p.Ala330=) rs1588014706
NM_005677.4(COLQ):c.1005C>T (p.Asn335=)
NM_005677.4(COLQ):c.106+11G>A
NM_005677.4(COLQ):c.106+18C>G
NM_005677.4(COLQ):c.106+7G>T rs766993036
NM_005677.4(COLQ):c.1089C>T (p.Tyr363=) rs752967536
NM_005677.4(COLQ):c.1152G>A (p.Glu384=)
NM_005677.4(COLQ):c.1195+17C>A
NM_005677.4(COLQ):c.1195+17C>T
NM_005677.4(COLQ):c.1196-17T>A
NM_005677.4(COLQ):c.1196-19C>A
NM_005677.4(COLQ):c.1200T>C (p.Cys400=)
NM_005677.4(COLQ):c.1209C>G (p.Ala403=)
NM_005677.4(COLQ):c.1209C>T (p.Ala403=)
NM_005677.4(COLQ):c.1221T>C (p.Asp407=)
NM_005677.4(COLQ):c.1257C>T (p.Gly419=) rs1188131165
NM_005677.4(COLQ):c.1298+19C>G rs1165126069
NM_005677.4(COLQ):c.1298+7A>T
NM_005677.4(COLQ):c.1299-9C>T rs1372494255
NM_005677.4(COLQ):c.1299G>A (p.Gly433=) rs754755194
NM_005677.4(COLQ):c.1338C>T (p.Ile446=) rs73818504
NM_005677.4(COLQ):c.135T>C (p.Arg45=) rs551550075
NM_005677.4(COLQ):c.141C>T (p.Gly47=)
NM_005677.4(COLQ):c.165G>C (p.Thr55=)
NM_005677.4(COLQ):c.165G>T (p.Thr55=)
NM_005677.4(COLQ):c.168T>G (p.Pro56=) rs1575483827
NM_005677.4(COLQ):c.219+11T>C rs2125138945
NM_005677.4(COLQ):c.220-19G>A
NM_005677.4(COLQ):c.25T>C (p.Leu9=)
NM_005677.4(COLQ):c.291G>T (p.Ser97=) rs115201284
NM_005677.4(COLQ):c.292C>T (p.Leu98=)
NM_005677.4(COLQ):c.321+18G>C rs944034091
NM_005677.4(COLQ):c.321+7G>T
NM_005677.4(COLQ):c.322-15A>G
NM_005677.4(COLQ):c.366+15T>C
NM_005677.4(COLQ):c.394-19T>C
NM_005677.4(COLQ):c.405C>A (p.Gly135=) rs762810817
NM_005677.4(COLQ):c.408C>T (p.Pro136=)
NM_005677.4(COLQ):c.462C>T (p.Pro154=) rs2062392219
NM_005677.4(COLQ):c.466-14T>C
NM_005677.4(COLQ):c.466-20TCT[2] rs1368152894
NM_005677.4(COLQ):c.466-4A>G
NM_005677.4(COLQ):c.528+18A>G
NM_005677.4(COLQ):c.529-17C>T
NM_005677.4(COLQ):c.529-4T>G
NM_005677.4(COLQ):c.555+16G>C
NM_005677.4(COLQ):c.555+7G>A rs2125116104
NM_005677.4(COLQ):c.556-15A>T
NM_005677.4(COLQ):c.558A>G (p.Gly186=) rs2125115076
NM_005677.4(COLQ):c.600+18T>C rs2125114984
NM_005677.4(COLQ):c.601-12C>T
NM_005677.4(COLQ):c.601-16G>A rs762479425
NM_005677.4(COLQ):c.636+8A>G
NM_005677.4(COLQ):c.637-11C>T
NM_005677.4(COLQ):c.637-19T>A
NM_005677.4(COLQ):c.702A>C (p.Gly234=) rs2125109713
NM_005677.4(COLQ):c.717+16C>A
NM_005677.4(COLQ):c.717+9C>T
NM_005677.4(COLQ):c.718-14T>C
NM_005677.4(COLQ):c.718-9C>T rs756975517
NM_005677.4(COLQ):c.759G>A (p.Lys253=)
NM_005677.4(COLQ):c.783C>A (p.Gly261=)
NM_005677.4(COLQ):c.783C>G (p.Gly261=) rs745798750
NM_005677.4(COLQ):c.792G>T (p.Gly264=) rs1302815595
NM_005677.4(COLQ):c.804C>T (p.Pro268=)
NM_005677.4(COLQ):c.814+12A>G
NM_005677.4(COLQ):c.814+12dup
NM_005677.4(COLQ):c.815-1064del
NM_005677.4(COLQ):c.855C>A (p.Pro285=)
NM_005677.4(COLQ):c.855C>T (p.Pro285=) rs758307097
NM_005677.4(COLQ):c.87C>T (p.Ser29=)
NM_005677.4(COLQ):c.924G>A (p.Val308=)
NM_005677.4(COLQ):c.955-7C>G rs762298520
NM_005677.4(COLQ):c.955-9C>T
NM_020549.5(CHAT):c.1023C>G (p.Ser341=)
NM_020549.5(CHAT):c.1041G>A (p.Leu347=)
NM_020549.5(CHAT):c.1050T>C (p.Ile350=)
NM_020549.5(CHAT):c.1077C>T (p.Ser359=)
NM_020549.5(CHAT):c.1080G>A (p.Glu360=)
NM_020549.5(CHAT):c.1086C>G (p.Ala362=)
NM_020549.5(CHAT):c.1092C>A (p.Ala364=)
NM_020549.5(CHAT):c.1104C>T (p.Leu368=)
NM_020549.5(CHAT):c.1111+11G>A
NM_020549.5(CHAT):c.1111+13G>A
NM_020549.5(CHAT):c.1111+16C>T
NM_020549.5(CHAT):c.1112-12C>A
NM_020549.5(CHAT):c.1112-14T>C
NM_020549.5(CHAT):c.1112-16C>T
NM_020549.5(CHAT):c.1112-20T>G
NM_020549.5(CHAT):c.1112-4G>A
NM_020549.5(CHAT):c.1112-5T>C
NM_020549.5(CHAT):c.1112-6C>A
NM_020549.5(CHAT):c.1112-8C>T
NM_020549.5(CHAT):c.111C>T (p.Leu37=)
NM_020549.5(CHAT):c.1123C>A (p.Arg375=) rs141794970
NM_020549.5(CHAT):c.1125G>A (p.Arg375=)
NM_020549.5(CHAT):c.1137C>T (p.Asp379=)
NM_020549.5(CHAT):c.1167C>T (p.Cys389=)
NM_020549.5(CHAT):c.1176G>A (p.Ala392=)
NM_020549.5(CHAT):c.1179A>G (p.Pro393=) rs1013445287
NM_020549.5(CHAT):c.1188G>A (p.Val396=)
NM_020549.5(CHAT):c.1194C>T (p.Leu398=)
NM_020549.5(CHAT):c.1203C>A (p.Thr401=)
NM_020549.5(CHAT):c.120T>C (p.Gly40=)
NM_020549.5(CHAT):c.1224T>C (p.Leu408=)
NM_020549.5(CHAT):c.1230C>A (p.Gly410=)
NM_020549.5(CHAT):c.1233A>G (p.Gly411=)
NM_020549.5(CHAT):c.1236C>A (p.Gly412=)
NM_020549.5(CHAT):c.1242C>T (p.Ser414=)
NM_020549.5(CHAT):c.1251G>C (p.Gly417=)
NM_020549.5(CHAT):c.1254C>T (p.Ala418=)
NM_020549.5(CHAT):c.1269C>T (p.Asp423=)
NM_020549.5(CHAT):c.126C>T (p.Arg42=)
NM_020549.5(CHAT):c.1278G>A (p.Leu426=)
NM_020549.5(CHAT):c.1282-11T>C
NM_020549.5(CHAT):c.1282-13T>C
NM_020549.5(CHAT):c.1282-14_1282-13del
NM_020549.5(CHAT):c.1282-16C>T
NM_020549.5(CHAT):c.1282-19T>C
NM_020549.5(CHAT):c.1282-4G>A
NM_020549.5(CHAT):c.1299C>T (p.Asp433=)
NM_020549.5(CHAT):c.1326C>T (p.His442=)
NM_020549.5(CHAT):c.1341C>T (p.Gly447=) rs1014316815
NM_020549.5(CHAT):c.1344C>T (p.Ile448=) rs754253168
NM_020549.5(CHAT):c.1347C>T (p.Val449=)
NM_020549.5(CHAT):c.1356G>A (p.Gln452=)
NM_020549.5(CHAT):c.135G>A (p.Pro45=)
NM_020549.5(CHAT):c.135G>C (p.Pro45=) rs954236201
NM_020549.5(CHAT):c.135G>T (p.Pro45=)
NM_020549.5(CHAT):c.1362T>C (p.Thr454=)
NM_020549.5(CHAT):c.1362T>G (p.Thr454=)
NM_020549.5(CHAT):c.1371G>A (p.Leu457=) rs1274962675
NM_020549.5(CHAT):c.1382+18G>A
NM_020549.5(CHAT):c.1382+8T>G
NM_020549.5(CHAT):c.1383-16G>T
NM_020549.5(CHAT):c.1383-17T>C
NM_020549.5(CHAT):c.1383-17T>G
NM_020549.5(CHAT):c.1383-20G>A
NM_020549.5(CHAT):c.1383-20G>C
NM_020549.5(CHAT):c.1383-5C>T
NM_020549.5(CHAT):c.1383-7C>T
NM_020549.5(CHAT):c.1386G>T (p.Thr462=)
NM_020549.5(CHAT):c.1389G>A (p.Gln463=)
NM_020549.5(CHAT):c.138C>A (p.Gly46=)
NM_020549.5(CHAT):c.1398G>A (p.Arg466=)
NM_020549.5(CHAT):c.1401G>A (p.Lys467=) rs1305182651
NM_020549.5(CHAT):c.1404G>A (p.Leu468=)
NM_020549.5(CHAT):c.1408C>A (p.Arg470=) rs142889639
NM_020549.5(CHAT):c.1410A>C (p.Arg470=)
NM_020549.5(CHAT):c.1419C>A (p.Ser473=) rs200175587
NM_020549.5(CHAT):c.1425C>T (p.Ser475=)
NM_020549.5(CHAT):c.1437C>T (p.Ala479=) rs2132812100
NM_020549.5(CHAT):c.1441C>A (p.Arg481=)
NM_020549.5(CHAT):c.1449G>T (p.Leu483=)
NM_020549.5(CHAT):c.1450C>A (p.Arg484=)
NM_020549.5(CHAT):c.1464C>A (p.Ser488=) rs1590611293
NM_020549.5(CHAT):c.1473T>A (p.Ile491=)
NM_020549.5(CHAT):c.1479C>A (p.Gly493=)
NM_020549.5(CHAT):c.1482C>T (p.His494=)
NM_020549.5(CHAT):c.1488C>G (p.Ala496=)
NM_020549.5(CHAT):c.1488C>T (p.Ala496=)
NM_020549.5(CHAT):c.150C>A (p.Gly50=) rs1275077667
NM_020549.5(CHAT):c.1511+12C>T
NM_020549.5(CHAT):c.1511+13G>T
NM_020549.5(CHAT):c.1511+18C>T
NM_020549.5(CHAT):c.1511+19T>G rs867084609
NM_020549.5(CHAT):c.1511+20C>T
NM_020549.5(CHAT):c.1511+8T>C
NM_020549.5(CHAT):c.1512-10T>C rs2132820333
NM_020549.5(CHAT):c.1512-12T>C
NM_020549.5(CHAT):c.1512-14T>A
NM_020549.5(CHAT):c.1512-18T>C
NM_020549.5(CHAT):c.1512-20C>A
NM_020549.5(CHAT):c.156C>G (p.Ala52=)
NM_020549.5(CHAT):c.159G>A (p.Gly53=)
NM_020549.5(CHAT):c.1605C>T (p.Ile535=) rs772695708
NM_020549.5(CHAT):c.1614C>T (p.Ala538=)
NM_020549.5(CHAT):c.1617C>G (p.Leu539=)
NM_020549.5(CHAT):c.1626C>T (p.Ala542=)
NM_020549.5(CHAT):c.1634+11G>C
NM_020549.5(CHAT):c.1634+17T>G
NM_020549.5(CHAT):c.1634+18G>A
NM_020549.5(CHAT):c.1634+7G>A
NM_020549.5(CHAT):c.1635-12C>T
NM_020549.5(CHAT):c.1635-16C>T
NM_020549.5(CHAT):c.1635-4G>A
NM_020549.5(CHAT):c.1635-5C>T rs776745899
NM_020549.5(CHAT):c.1650G>A (p.Leu550=)
NM_020549.5(CHAT):c.1665G>A (p.Glu555=)
NM_020549.5(CHAT):c.168C>A (p.Gly56=)
NM_020549.5(CHAT):c.1695A>C (p.Gly565=)
NM_020549.5(CHAT):c.1698C>T (p.Arg566=) rs760452753
NM_020549.5(CHAT):c.1701G>T (p.Val567=)
NM_020549.5(CHAT):c.1728G>A (p.Glu576=) rs2132830737
NM_020549.5(CHAT):c.1731A>G (p.Ala577=)
NM_020549.5(CHAT):c.1732C>T (p.Leu578=)
NM_020549.5(CHAT):c.1746A>G (p.Arg582=) rs779923095
NM_020549.5(CHAT):c.1749C>T (p.Ala583=)
NM_020549.5(CHAT):c.1764G>A (p.Lys588=)
NM_020549.5(CHAT):c.1767T>C (p.Ala589=)
NM_020549.5(CHAT):c.1776+10G>A
NM_020549.5(CHAT):c.1776+11C>T
NM_020549.5(CHAT):c.1776+12C>T
NM_020549.5(CHAT):c.1776+15A>G
NM_020549.5(CHAT):c.1776+15_1776+17del
NM_020549.5(CHAT):c.1776+16C>A
NM_020549.5(CHAT):c.1776+16C>G
NM_020549.5(CHAT):c.1776+18C>A
NM_020549.5(CHAT):c.1776+7C>A
NM_020549.5(CHAT):c.1776+7C>G
NM_020549.5(CHAT):c.1776+7C>T
NM_020549.5(CHAT):c.1777-11T>C
NM_020549.5(CHAT):c.1777-13G>A
NM_020549.5(CHAT):c.1777-17_1777-16del
NM_020549.5(CHAT):c.1777-20C>A
NM_020549.5(CHAT):c.1777-7T>C
NM_020549.5(CHAT):c.177C>T (p.Pro59=)
NM_020549.5(CHAT):c.1782T>C (p.Ser594=)
NM_020549.5(CHAT):c.1785G>A (p.Glu595=)
NM_020549.5(CHAT):c.1794G>T (p.Leu598=)
NM_020549.5(CHAT):c.1797C>T (p.Leu599=)
NM_020549.5(CHAT):c.1800G>A (p.Leu600=)
NM_020549.5(CHAT):c.1839+12C>T rs1554808562
NM_020549.5(CHAT):c.1839+13G>A
NM_020549.5(CHAT):c.1839+14C>T rs1840007140
NM_020549.5(CHAT):c.1840-10A>G
NM_020549.5(CHAT):c.1840-13C>T
NM_020549.5(CHAT):c.1840-14C>G
NM_020549.5(CHAT):c.1840-17T>C
NM_020549.5(CHAT):c.1840-4A>G
NM_020549.5(CHAT):c.1840-7T>C
NM_020549.5(CHAT):c.1848A>T (p.Thr616=)
NM_020549.5(CHAT):c.1851G>A (p.Gly617=)
NM_020549.5(CHAT):c.1860T>A (p.Ile620=)
NM_020549.5(CHAT):c.1863C>T (p.Asp621=) rs1590628381
NM_020549.5(CHAT):c.186C>T (p.Arg62=)
NM_020549.5(CHAT):c.1911G>A (p.Glu637=)
NM_020549.5(CHAT):c.1917C>T (p.Pro639=)
NM_020549.5(CHAT):c.1926C>T (p.Phe642=)
NM_020549.5(CHAT):c.1935A>G (p.Glu645=)
NM_020549.5(CHAT):c.1944G>A (p.Leu648=)
NM_020549.5(CHAT):c.1950C>T (p.Ser650=)
NM_020549.5(CHAT):c.1956G>T (p.Arg652=)
NM_020549.5(CHAT):c.1977+10C>T rs781627020
NM_020549.5(CHAT):c.1977+11G>A
NM_020549.5(CHAT):c.1978-15T>C rs2132858259
NM_020549.5(CHAT):c.1978-9C>A
NM_020549.5(CHAT):c.1978-9C>G
NM_020549.5(CHAT):c.1980G>A (p.Val660=)
NM_020549.5(CHAT):c.1995G>A (p.Glu665=)
NM_020549.5(CHAT):c.2010T>C (p.Tyr670=)
NM_020549.5(CHAT):c.2013T>C (p.Gly671=)
NM_020549.5(CHAT):c.2016T>C (p.Pro672=)
NM_020549.5(CHAT):c.2019G>A (p.Val673=)
NM_020549.5(CHAT):c.201C>A (p.Pro67=)
NM_020549.5(CHAT):c.2022C>T (p.Val674=)
NM_020549.5(CHAT):c.2025A>G (p.Pro675=)
NM_020549.5(CHAT):c.2040C>G (p.Ala680=)
NM_020549.5(CHAT):c.2046C>T (p.Tyr682=)
NM_020549.5(CHAT):c.2067C>A (p.Ile689=)
NM_020549.5(CHAT):c.2094C>T (p.Ser698=)
NM_020549.5(CHAT):c.2151C>T (p.Asp717=)
NM_020549.5(CHAT):c.2166C>T (p.Cys722=)
NM_020549.5(CHAT):c.2169T>C (p.Ser723=)
NM_020549.5(CHAT):c.2172G>T (p.Leu724=)
NM_020549.5(CHAT):c.2190C>T (p.Ser730=)
NM_020549.5(CHAT):c.2197T>C (p.Leu733=)
NM_020549.5(CHAT):c.219C>T (p.His73=)
NM_020549.5(CHAT):c.2205A>G (p.Thr735=)
NM_020549.5(CHAT):c.2220G>A (p.Thr740=)
NM_020549.5(CHAT):c.2220G>C (p.Thr740=)
NM_020549.5(CHAT):c.2232G>A (p.Gln744=)
NM_020549.5(CHAT):c.2242C>G (p.Pro748Ala)
NM_020549.5(CHAT):c.2244T>G (p.Pro748=)
NM_020549.5(CHAT):c.225C>A (p.Pro75=)
NM_020549.5(CHAT):c.228C>G (p.Ala76=)
NM_020549.5(CHAT):c.240G>A (p.Glu80=)
NM_020549.5(CHAT):c.252A>C (p.Ala84=) rs112079336
NM_020549.5(CHAT):c.255G>A (p.Ala85=)
NM_020549.5(CHAT):c.258G>A (p.Ser86=) rs778636468
NM_020549.5(CHAT):c.261C>G (p.Ala87=)
NM_020549.5(CHAT):c.273G>A (p.Glu91=)
NM_020549.5(CHAT):c.275C>G (p.Pro92Arg) rs372298555
NM_020549.5(CHAT):c.276G>A (p.Pro92=) rs745665140
NM_020549.5(CHAT):c.27G>A (p.Arg9=)
NM_020549.5(CHAT):c.282A>G (p.Arg94=) rs2132695418
NM_020549.5(CHAT):c.286+11GGGCT[4]
NM_020549.5(CHAT):c.286+12G>T rs2132695528
NM_020549.5(CHAT):c.286+13G>A
NM_020549.5(CHAT):c.286+13G>T
NM_020549.5(CHAT):c.286+16G>A
NM_020549.5(CHAT):c.286+20_286+28del
NM_020549.5(CHAT):c.286+9_286+11del
NM_020549.5(CHAT):c.287-10T>C rs770517566
NM_020549.5(CHAT):c.287-12C>T
NM_020549.5(CHAT):c.287-8G>A
NM_020549.5(CHAT):c.287-9G>C
NM_020549.5(CHAT):c.294C>T (p.His98=)
NM_020549.5(CHAT):c.297C>G (p.Leu99=)
NM_020549.5(CHAT):c.300C>T (p.Cys100=)
NM_020549.5(CHAT):c.306T>C (p.Pro102=)
NM_020549.5(CHAT):c.30G>A (p.Gly10=) rs528479799
NM_020549.5(CHAT):c.30G>C (p.Gly10=)
NM_020549.5(CHAT):c.30G>T (p.Gly10=)
NM_020549.5(CHAT):c.315A>G (p.Gly105=)
NM_020549.5(CHAT):c.333C>T (p.Ile111=)
NM_020549.5(CHAT):c.33T>C (p.Leu11=)
NM_020549.5(CHAT):c.345C>A (p.Val115=) rs917815714
NM_020549.5(CHAT):c.372C>T (p.Pro124=)
NM_020549.5(CHAT):c.378T>C (p.Ser126=) rs2132702237
NM_020549.5(CHAT):c.387+16A>G
NM_020549.5(CHAT):c.387+17G>A
NM_020549.5(CHAT):c.387+9C>T
NM_020549.5(CHAT):c.388-11C>G
NM_020549.5(CHAT):c.388-11del
NM_020549.5(CHAT):c.388-12C>A
NM_020549.5(CHAT):c.388-12C>T
NM_020549.5(CHAT):c.388-16G>A
NM_020549.5(CHAT):c.388-17T>C
NM_020549.5(CHAT):c.388-18A>G rs1016103413
NM_020549.5(CHAT):c.388-6T>C rs2132710242
NM_020549.5(CHAT):c.399A>G (p.Lys133=)
NM_020549.5(CHAT):c.400C>T (p.Leu134=)
NM_020549.5(CHAT):c.405C>A (p.Pro135=)
NM_020549.5(CHAT):c.405C>G (p.Pro135=)
NM_020549.5(CHAT):c.405C>T (p.Pro135=) rs757344796
NM_020549.5(CHAT):c.411C>T (p.Pro137=) rs764063564
NM_020549.5(CHAT):c.420G>A (p.Gln140=)
NM_020549.5(CHAT):c.432C>T (p.Ala144=)
NM_020549.5(CHAT):c.435G>T (p.Thr145=)
NM_020549.5(CHAT):c.439C>T (p.Leu147=) rs1838632986
NM_020549.5(CHAT):c.441G>A (p.Leu147=)
NM_020549.5(CHAT):c.444G>A (p.Gln148=)
NM_020549.5(CHAT):c.451C>A (p.Arg151=)
NM_020549.5(CHAT):c.45G>A (p.Gly15=)
NM_020549.5(CHAT):c.45G>C (p.Gly15=)
NM_020549.5(CHAT):c.516T>C (p.Pro172=)
NM_020549.5(CHAT):c.525C>T (p.Leu175=)
NM_020549.5(CHAT):c.550C>T (p.Leu184=)
NM_020549.5(CHAT):c.579+10G>C
NM_020549.5(CHAT):c.579+18G>T
NM_020549.5(CHAT):c.579+19G>A
NM_020549.5(CHAT):c.579+7G>A
NM_020549.5(CHAT):c.580-11dup
NM_020549.5(CHAT):c.580-16C>T
NM_020549.5(CHAT):c.580-17C>G
NM_020549.5(CHAT):c.580-5G>C
NM_020549.5(CHAT):c.580-8C>T rs1590562931
NM_020549.5(CHAT):c.59_60del (p.Glu20fs) rs531450737
NM_020549.5(CHAT):c.612C>T (p.Leu204=) rs1488503830
NM_020549.5(CHAT):c.621C>T (p.Arg207=)
NM_020549.5(CHAT):c.630G>T (p.Leu210=) rs750447540
NM_020549.5(CHAT):c.651C>G (p.Ala217=) rs575515952
NM_020549.5(CHAT):c.654G>T (p.Val218=)
NM_020549.5(CHAT):c.657C>T (p.Ile219=)
NM_020549.5(CHAT):c.660T>C (p.Phe220=)
NM_020549.5(CHAT):c.665G>A (p.Arg222Gln) rs8178989
NM_020549.5(CHAT):c.681C>T (p.Gly227=)
NM_020549.5(CHAT):c.684C>T (p.Thr228=)
NM_020549.5(CHAT):c.693G>A (p.Gln231=)
NM_020549.5(CHAT):c.698+10T>C
NM_020549.5(CHAT):c.698+15C>G
NM_020549.5(CHAT):c.698+19T>A
NM_020549.5(CHAT):c.698+7C>T rs1590563362
NM_020549.5(CHAT):c.699-14C>T
NM_020549.5(CHAT):c.699-18C>T
NM_020549.5(CHAT):c.699-4G>T
NM_020549.5(CHAT):c.699-6C>T
NM_020549.5(CHAT):c.699-9T>G rs1207212526
NM_020549.5(CHAT):c.735C>T (p.Tyr245=)
NM_020549.5(CHAT):c.747G>A (p.Leu249=)
NM_020549.5(CHAT):c.747G>T (p.Leu249=)
NM_020549.5(CHAT):c.752+19T>C
NM_020549.5(CHAT):c.753-10T>C
NM_020549.5(CHAT):c.753-11C>T
NM_020549.5(CHAT):c.753-12C>T
NM_020549.5(CHAT):c.753-13T>C
NM_020549.5(CHAT):c.753-14C>T
NM_020549.5(CHAT):c.759C>T (p.Ser253=)
NM_020549.5(CHAT):c.771C>T (p.Asp257=)
NM_020549.5(CHAT):c.787C>T (p.Leu263=)
NM_020549.5(CHAT):c.795G>A (p.Gly265=)
NM_020549.5(CHAT):c.819C>T (p.Tyr273=)
NM_020549.5(CHAT):c.822T>C (p.Tyr274=)
NM_020549.5(CHAT):c.825G>A (p.Gly275=)
NM_020549.5(CHAT):c.833CCT[1] (p.Ser279del) rs560648873
NM_020549.5(CHAT):c.834C>T (p.Ser278=) rs775502083
NM_020549.5(CHAT):c.846C>T (p.Leu282=) rs1213463622
NM_020549.5(CHAT):c.84G>A (p.Arg28=)
NM_020549.5(CHAT):c.85A>C (p.Arg29=) rs772025588
NM_020549.5(CHAT):c.861G>A (p.Gln287=) rs1590572872
NM_020549.5(CHAT):c.870G>A (p.Leu290=)
NM_020549.5(CHAT):c.873G>T (p.Val291=)
NM_020549.5(CHAT):c.915C>T (p.Ile305=)
NM_020549.5(CHAT):c.933+10C>A
NM_020549.5(CHAT):c.933+12C>T
NM_020549.5(CHAT):c.933+16T>C
NM_020549.5(CHAT):c.933+18T>C
NM_020549.5(CHAT):c.933+9C>A
NM_020549.5(CHAT):c.934-15C>T
NM_020549.5(CHAT):c.934-19T>G
NM_020549.5(CHAT):c.934-6C>T
NM_020549.5(CHAT):c.934-7C>T
NM_020549.5(CHAT):c.934-8C>T
NM_020549.5(CHAT):c.93G>T (p.Val31=)
NM_020549.5(CHAT):c.963C>T (p.Phe321=) rs1838967996
NM_020549.5(CHAT):c.966C>T (p.Arg322=)
NM_020549.5(CHAT):c.981G>A (p.Gly327=)
NM_020549.5(CHAT):c.981G>T (p.Gly327=)
NM_020549.5(CHAT):c.984T>C (p.Asp328=)
NM_021815.5(SLC5A7):c.1023T>C (p.Ser341=)
NM_021815.5(SLC5A7):c.1023T>G (p.Ser341=)
NM_021815.5(SLC5A7):c.102C>T (p.Ser34=) rs778941657
NM_021815.5(SLC5A7):c.1086C>T (p.Asn362=) rs761044523
NM_021815.5(SLC5A7):c.1113+13del rs2104379640
NM_021815.5(SLC5A7):c.1113+14C>A
NM_021815.5(SLC5A7):c.1113+14del
NM_021815.5(SLC5A7):c.1114-13C>A
NM_021815.5(SLC5A7):c.1114-16_1114-15del
NM_021815.5(SLC5A7):c.1161G>A (p.Val387=) rs2104382693
NM_021815.5(SLC5A7):c.1170A>G (p.Ala390=)
NM_021815.5(SLC5A7):c.1182C>T (p.Ala394=)
NM_021815.5(SLC5A7):c.1203T>A (p.Thr401=)
NM_021815.5(SLC5A7):c.1251C>T (p.Ile417=) rs1334655911
NM_021815.5(SLC5A7):c.1257C>T (p.Pro419=) rs557717267
NM_021815.5(SLC5A7):c.1266T>G (p.Leu422=) rs1553459987
NM_021815.5(SLC5A7):c.1269T>C (p.Cys423=) rs1678273384
NM_021815.5(SLC5A7):c.1290C>G (p.Thr430=) rs1573618054
NM_021815.5(SLC5A7):c.1302G>A (p.Gly434=) rs767552380
NM_021815.5(SLC5A7):c.1326C>T (p.Gly442=)
NM_021815.5(SLC5A7):c.1362G>C (p.Leu454=)
NM_021815.5(SLC5A7):c.1362G>T (p.Leu454=)
NM_021815.5(SLC5A7):c.1389T>C (p.Pro463=)
NM_021815.5(SLC5A7):c.1465T>C (p.Leu489=) rs2104383662
NM_021815.5(SLC5A7):c.1497G>A (p.Lys499=) rs2104383766
NM_021815.5(SLC5A7):c.1501C>T (p.Leu501=)
NM_021815.5(SLC5A7):c.1503A>G (p.Leu501=)
NM_021815.5(SLC5A7):c.1533A>G (p.Leu511=) rs748269839
NM_021815.5(SLC5A7):c.154T>C (p.Leu52=) rs894241313
NM_021815.5(SLC5A7):c.1569A>G (p.Glu523=)
NM_021815.5(SLC5A7):c.1608T>C (p.Asn536=)
NM_021815.5(SLC5A7):c.1615T>C (p.Leu539=) rs904369740
NM_021815.5(SLC5A7):c.1629A>C (p.Ala543=)
NM_021815.5(SLC5A7):c.1659C>G (p.Leu553=) rs2104384314
NM_021815.5(SLC5A7):c.1659C>T (p.Leu553=) rs2104384314
NM_021815.5(SLC5A7):c.1677T>C (p.Asn559=) rs1678299598
NM_021815.5(SLC5A7):c.1725T>G (p.Thr575=) rs1678302888
NM_021815.5(SLC5A7):c.178+13G>A
NM_021815.5(SLC5A7):c.189C>T (p.Val63=) rs1573591981
NM_021815.5(SLC5A7):c.21A>G (p.Gly7=)
NM_021815.5(SLC5A7):c.285G>C (p.Leu95=)
NM_021815.5(SLC5A7):c.292+11G>C rs777715689
NM_021815.5(SLC5A7):c.293-17A>T
NM_021815.5(SLC5A7):c.294T>C (p.Gly98=) rs2104342304
NM_021815.5(SLC5A7):c.297C>T (p.Gly99=)
NM_021815.5(SLC5A7):c.324A>C (p.Ser108=)
NM_021815.5(SLC5A7):c.333T>C (p.Tyr111=) rs1573593406
NM_021815.5(SLC5A7):c.351G>C (p.Pro117=) rs368109143
NM_021815.5(SLC5A7):c.354T>C (p.Phe118=)
NM_021815.5(SLC5A7):c.36C>T (p.Ile12=)
NM_021815.5(SLC5A7):c.390G>A (p.Leu130=) rs1553457998
NM_021815.5(SLC5A7):c.39G>A (p.Val13=)
NM_021815.5(SLC5A7):c.402A>C (p.Ala134=)
NM_021815.5(SLC5A7):c.429A>G (p.Ala143=) rs2104342884
NM_021815.5(SLC5A7):c.441T>C (p.Ser147=)
NM_021815.5(SLC5A7):c.448+12C>T rs775806807
NM_021815.5(SLC5A7):c.448+7A>G
NM_021815.5(SLC5A7):c.448+9C>T rs759922183
NM_021815.5(SLC5A7):c.449-11G>A
NM_021815.5(SLC5A7):c.449-13_449-12del
NM_021815.5(SLC5A7):c.449-9_449-8del
NM_021815.5(SLC5A7):c.528A>G (p.Thr176=) rs780484840
NM_021815.5(SLC5A7):c.531G>T (p.Leu177=) rs1027922396
NM_021815.5(SLC5A7):c.540G>A (p.Gly180=) rs574474443
NM_021815.5(SLC5A7):c.540G>T (p.Gly180=) rs574474443
NM_021815.5(SLC5A7):c.543C>T (p.Leu181=)
NM_021815.5(SLC5A7):c.555C>T (p.Ala185=) rs1032544775
NM_021815.5(SLC5A7):c.567C>T (p.Val189=)
NM_021815.5(SLC5A7):c.591A>G (p.Val197=)
NM_021815.5(SLC5A7):c.594G>T (p.Gly198=)
NM_021815.5(SLC5A7):c.597+14C>T rs370808911
NM_021815.5(SLC5A7):c.598-18T>G rs892853771
NM_021815.5(SLC5A7):c.598-7G>A rs759555286
NM_021815.5(SLC5A7):c.630T>C (p.Pro210=)
NM_021815.5(SLC5A7):c.648G>C (p.Gly216=) rs1573607048
NM_021815.5(SLC5A7):c.741+11C>T
NM_021815.5(SLC5A7):c.741+8A>C
NM_021815.5(SLC5A7):c.742-10T>C rs2104373298
NM_021815.5(SLC5A7):c.742-15G>A
NM_021815.5(SLC5A7):c.742-17T>C
NM_021815.5(SLC5A7):c.742-5C>T rs1287734210
NM_021815.5(SLC5A7):c.742-6G>T
NM_021815.5(SLC5A7):c.747G>A (p.Leu249=) rs2104373334
NM_021815.5(SLC5A7):c.759A>T (p.Pro253=) rs372145153
NM_021815.5(SLC5A7):c.768A>C (p.Ala256=)
NM_021815.5(SLC5A7):c.840G>T (p.Gly280=)
NM_021815.5(SLC5A7):c.888A>C (p.Ala296=)
NM_021815.5(SLC5A7):c.895+12G>A
NM_021815.5(SLC5A7):c.895+17T>C
NM_021815.5(SLC5A7):c.895+20A>G
NM_021815.5(SLC5A7):c.896-13T>C
NM_021815.5(SLC5A7):c.896-17T>C
NM_021815.5(SLC5A7):c.896-18G>T
NM_021815.5(SLC5A7):c.903C>T (p.Asn301=) rs2104379044
NM_021815.5(SLC5A7):c.912A>C (p.Ala304=)
NM_021815.5(SLC5A7):c.939A>G (p.Thr313=) rs778842636
NM_021815.5(SLC5A7):c.963A>G (p.Pro321=)
NM_021815.5(SLC5A7):c.981C>T (p.Leu327=) rs1011037891
NM_033087.4(ALG2):c.1047C>T (p.Pro349=) rs1588618685
NM_033087.4(ALG2):c.1056C>G (p.Ser352=)
NM_033087.4(ALG2):c.1062C>T (p.Asp354=)
NM_033087.4(ALG2):c.1068T>C (p.Ser356=)
NM_033087.4(ALG2):c.108G>A (p.Ala36=)
NM_033087.4(ALG2):c.1107C>T (p.Phe369=)
NM_033087.4(ALG2):c.1110A>C (p.Ser370=) rs369062018
NM_033087.4(ALG2):c.1110A>G (p.Ser370=)
NM_033087.4(ALG2):c.1185G>A (p.Lys395=)
NM_033087.4(ALG2):c.118C>T (p.Leu40=)
NM_033087.4(ALG2):c.1191A>G (p.Lys397=) rs2118997478
NM_033087.4(ALG2):c.1248A>G (p.Val416=) rs1828721761
NM_033087.4(ALG2):c.135T>C (p.Cys45=)
NM_033087.4(ALG2):c.144G>A (p.Lys48=)
NM_033087.4(ALG2):c.147C>T (p.Ile49=)
NM_033087.4(ALG2):c.18C>T (p.Gly6=)
NM_033087.4(ALG2):c.195G>A (p.Glu65=)
NM_033087.4(ALG2):c.196C>T (p.Leu66=) rs763273127
NM_033087.4(ALG2):c.213C>A (p.Ala71=)
NM_033087.4(ALG2):c.213C>G (p.Ala71=) rs768862419
NM_033087.4(ALG2):c.213C>T (p.Ala71=) rs768862419
NM_033087.4(ALG2):c.216G>C (p.Gly72=)
NM_033087.4(ALG2):c.228G>C (p.Pro76=)
NM_033087.4(ALG2):c.246C>T (p.Gly82=)
NM_033087.4(ALG2):c.258C>T (p.Ala86=) rs1057521308
NM_033087.4(ALG2):c.264C>G (p.Val88=) rs1015050313
NM_033087.4(ALG2):c.264C>T (p.Val88=)
NM_033087.4(ALG2):c.297C>G (p.Leu99=)
NM_033087.4(ALG2):c.306G>C (p.Leu102=)
NM_033087.4(ALG2):c.309C>T (p.Phe103=)
NM_033087.4(ALG2):c.315C>T (p.Ala105=) rs1588620487
NM_033087.4(ALG2):c.324G>A (p.Glu108=)
NM_033087.4(ALG2):c.327C>T (p.Phe109=)
NM_033087.4(ALG2):c.339G>A (p.Val113=) rs1554708016
NM_033087.4(ALG2):c.348+10C>A
NM_033087.4(ALG2):c.348+10C>T
NM_033087.4(ALG2):c.348+14G>A rs2119007123
NM_033087.4(ALG2):c.348+18C>T
NM_033087.4(ALG2):c.348+20G>A
NM_033087.4(ALG2):c.348+7C>T
NM_033087.4(ALG2):c.348+8G>C rs1230090169
NM_033087.4(ALG2):c.351G>T (p.Val117=)
NM_033087.4(ALG2):c.42G>A (p.Lys14=)
NM_033087.4(ALG2):c.453T>A (p.Leu151=)
NM_033087.4(ALG2):c.57C>T (p.Phe19=)
NM_033087.4(ALG2):c.627C>T (p.Asp209=) rs1187766399
NM_033087.4(ALG2):c.660C>A (p.Val220=)
NM_033087.4(ALG2):c.666G>A (p.Lys222=)
NM_033087.4(ALG2):c.675A>G (p.Lys225=)
NM_033087.4(ALG2):c.69C>T (p.Asp23=) rs764985375
NM_033087.4(ALG2):c.717T>C (p.Asn239=) rs1588618893
NM_033087.4(ALG2):c.729A>C (p.Ala243=)
NM_033087.4(ALG2):c.729A>T (p.Ala243=) rs748947069
NM_033087.4(ALG2):c.75C>G (p.Gly25=) rs1410757499
NM_033087.4(ALG2):c.760T>C (p.Leu254=) rs62562374
NM_033087.4(ALG2):c.795C>A (p.Ile265=) rs183416022
NM_033087.4(ALG2):c.81C>T (p.Gly27=)
NM_033087.4(ALG2):c.873C>T (p.Ser291=)
NM_033087.4(ALG2):c.918A>G (p.Lys306=)
NM_033087.4(ALG2):c.957T>C (p.Leu319=)
NM_033087.4(ALG2):c.96G>A (p.Leu32=)
NM_033087.4(ALG2):c.984C>G (p.Gly328=)
NM_130811.4(SNAP25):c.105G>A (p.Leu35=)
NM_130811.4(SNAP25):c.114+18T>C rs200107809
NM_130811.4(SNAP25):c.114+8G>A rs2123019457
NM_130811.4(SNAP25):c.12C>T (p.Asp4=) rs769285280
NM_130811.4(SNAP25):c.141G>A (p.Leu47=) rs2123063889
NM_130811.4(SNAP25):c.163+12T>C
NM_130811.4(SNAP25):c.163+20G>A rs1457848355
NM_130811.4(SNAP25):c.164-10G>T rs370270068
NM_130811.4(SNAP25):c.164-8T>A
NM_130811.4(SNAP25):c.165A>G (p.Glu55=) rs2123120164
NM_130811.4(SNAP25):c.180T>C (p.Ile60=) rs2123120284
NM_130811.4(SNAP25):c.183G>A (p.Glu61=) rs2123120317
NM_130811.4(SNAP25):c.186A>G (p.Glu62=) rs2123120338
NM_130811.4(SNAP25):c.189G>A (p.Gly63=) rs1051267
NM_130811.4(SNAP25):c.27T>C (p.Asn9=)
NM_130811.4(SNAP25):c.281+13T>A
NM_130811.4(SNAP25):c.281+17T>C
NM_130811.4(SNAP25):c.281+18G>C
NM_130811.4(SNAP25):c.282-11C>G
NM_130811.4(SNAP25):c.282-15C>G
NM_130811.4(SNAP25):c.282-20T>G
NM_130811.4(SNAP25):c.331G>A (p.Gly111Arg)
NM_130811.4(SNAP25):c.333A>G (p.Gly111=)
NM_130811.4(SNAP25):c.345C>T (p.Ser115=)
NM_130811.4(SNAP25):c.378G>A (p.Gln126=) rs2123143693
NM_130811.4(SNAP25):c.393C>A (p.Gly131=)
NM_130811.4(SNAP25):c.393C>G (p.Gly131=) rs761144395
NM_130811.4(SNAP25):c.405C>T (p.Arg135=)
NM_130811.4(SNAP25):c.407+11T>A rs2123144086
NM_130811.4(SNAP25):c.407+11T>C rs2123144086
NM_130811.4(SNAP25):c.407+5_407+19dup rs2123144027
NM_130811.4(SNAP25):c.408-11T>G
NM_130811.4(SNAP25):c.408-14T>C
NM_130811.4(SNAP25):c.408-18T>G
NM_130811.4(SNAP25):c.408-19C>T
NM_130811.4(SNAP25):c.408-8G>A
NM_130811.4(SNAP25):c.408-9G>T
NM_130811.4(SNAP25):c.424C>T (p.Arg142Ter) rs1235064890
NM_130811.4(SNAP25):c.426A>G (p.Arg142=) rs2123158690
NM_130811.4(SNAP25):c.427G>C (p.Glu143Gln)
NM_130811.4(SNAP25):c.471C>A (p.Ile157=) rs777212434
NM_130811.4(SNAP25):c.472G>A (p.Gly158Arg)
NM_130811.4(SNAP25):c.493C>T (p.Leu165=)
NM_130811.4(SNAP25):c.495G>A (p.Leu165=) rs2064182455
NM_130811.4(SNAP25):c.513C>A (p.Ile171=) rs372122045
NM_130811.4(SNAP25):c.516T>C (p.Asp172=)
NM_130811.4(SNAP25):c.51G>A (p.Arg17=)
NM_130811.4(SNAP25):c.528C>T (p.Arg176=)
NM_130811.4(SNAP25):c.552+12G>T
NM_130811.4(SNAP25):c.553-12C>T
NM_130811.4(SNAP25):c.57_68del (p.Gln20_Asp23del) rs2123003652
NM_130811.4(SNAP25):c.594T>C (p.Arg198=) rs2123205294
NM_130811.4(SNAP25):c.60G>A (p.Gln20=)
NM_130811.4(SNAP25):c.61T>C (p.Leu21=)
NM_130811.4(SNAP25):c.72+11GA[3] rs758885481
NM_130811.4(SNAP25):c.72+7A>C
NM_130811.4(SNAP25):c.73-12T>C
NM_130811.4(SNAP25):c.73-16del
NM_130811.4(SNAP25):c.75G>A (p.Ser25=) rs147866099
NM_130811.4(SNAP25):c.93T>A (p.Arg31=) rs2123019204
NM_144988.4(ALG14):c.111C>T (p.Leu37=) rs1035901315
NM_144988.4(ALG14):c.132G>A (p.Gly44=)
NM_144988.4(ALG14):c.136+10G>A
NM_144988.4(ALG14):c.136+10G>C rs771775941
NM_144988.4(ALG14):c.136+17C>A rs2100856342
NM_144988.4(ALG14):c.136+18G>T
NM_144988.4(ALG14):c.137-15T>C
NM_144988.4(ALG14):c.137-8T>C
NM_144988.4(ALG14):c.138T>C (p.Gly46=)
NM_144988.4(ALG14):c.165G>A (p.Leu55=)
NM_144988.4(ALG14):c.21A>G (p.Leu7=) rs1218214553
NM_144988.4(ALG14):c.234C>A (p.Ala78=)
NM_144988.4(ALG14):c.262C>A (p.Arg88=)
NM_144988.4(ALG14):c.288+18_288+23del
NM_144988.4(ALG14):c.288+9C>T
NM_144988.4(ALG14):c.289-4C>T rs767492224
NM_144988.4(ALG14):c.393C>T (p.Pro131=) rs2100771798
NM_144988.4(ALG14):c.396A>G (p.Leu132=) rs2100771768
NM_144988.4(ALG14):c.420+14T>C
NM_144988.4(ALG14):c.420+15C>G
NM_144988.4(ALG14):c.420+17C>T
NM_144988.4(ALG14):c.420+19A>G
NM_144988.4(ALG14):c.423G>A (p.Val141=)
NM_144988.4(ALG14):c.474C>T (p.Leu158=)
NM_144988.4(ALG14):c.531T>G (p.Arg177=)
NM_144988.4(ALG14):c.600G>A (p.Pro200=)
NM_144988.4(ALG14):c.621C>T (p.Pro207=)
NM_144988.4(ALG14):c.633C>T (p.Tyr211=)
NM_144988.4(ALG14):c.6G>A (p.Val2=)
NM_173660.5(DOK7):c.100+11C>G
NM_173660.5(DOK7):c.100+11C>T
NM_173660.5(DOK7):c.100+12G>A
NM_173660.5(DOK7):c.100+14G>C
NM_173660.5(DOK7):c.100+15C>A
NM_173660.5(DOK7):c.100+17G>A
NM_173660.5(DOK7):c.100+21_100+36del
NM_173660.5(DOK7):c.1008G>C (p.Ser336=)
NM_173660.5(DOK7):c.1008G>T (p.Ser336=)
NM_173660.5(DOK7):c.101-12C>T
NM_173660.5(DOK7):c.101-15C>T
NM_173660.5(DOK7):c.101-17G>A
NM_173660.5(DOK7):c.101-18C>T
NM_173660.5(DOK7):c.101-20G>A
NM_173660.5(DOK7):c.101-8C>G
NM_173660.5(DOK7):c.1017C>A (p.Gly339=)
NM_173660.5(DOK7):c.1017C>T (p.Gly339=)
NM_173660.5(DOK7):c.1026T>G (p.Thr342=) rs1437244628
NM_173660.5(DOK7):c.1035C>T (p.His345=)
NM_173660.5(DOK7):c.1038C>A (p.Ser346=)
NM_173660.5(DOK7):c.1038C>T (p.Ser346=)
NM_173660.5(DOK7):c.1047C>T (p.Ser349=)
NM_173660.5(DOK7):c.1059G>C (p.Ser353=)
NM_173660.5(DOK7):c.1062C>G (p.Ser354=)
NM_173660.5(DOK7):c.1068G>A (p.Ala356=)
NM_173660.5(DOK7):c.1068G>C (p.Ala356=)
NM_173660.5(DOK7):c.1068G>T (p.Ala356=) rs372407972
NM_173660.5(DOK7):c.1080G>T (p.Leu360=) rs2109418743
NM_173660.5(DOK7):c.111G>A (p.Leu37=) rs2109335875
NM_173660.5(DOK7):c.1125G>C (p.Leu375=)
NM_173660.5(DOK7):c.1128A>C (p.Pro376=)
NM_173660.5(DOK7):c.1131A>G (p.Ala377=)
NM_173660.5(DOK7):c.1134G>C (p.Ala378=)
NM_173660.5(DOK7):c.1137G>A (p.Gly379=)
NM_173660.5(DOK7):c.1140C>T (p.Ala380=)
NM_173660.5(DOK7):c.1146G>A (p.Glu382=)
NM_173660.5(DOK7):c.1149C>T (p.Pro383=)
NM_173660.5(DOK7):c.1155G>A (p.Leu385=)
NM_173660.5(DOK7):c.1161C>G (p.Thr387=)
NM_173660.5(DOK7):c.1165C>T (p.Leu389=)
NM_173660.5(DOK7):c.1168C>T (p.Pro390Ser) rs149525610
NM_173660.5(DOK7):c.1173G>C (p.Gly391=)
NM_173660.5(DOK7):c.1176A>T (p.Thr392=)
NM_173660.5(DOK7):c.1179C>G (p.Val393=) rs138797230
NM_173660.5(DOK7):c.1179C>T (p.Val393=) rs138797230
NM_173660.5(DOK7):c.117G>A (p.Leu39=)
NM_173660.5(DOK7):c.1188G>A (p.Gln396=) rs1577183241
NM_173660.5(DOK7):c.1191G>A (p.Val397=)
NM_173660.5(DOK7):c.1194C>T (p.Pro398=)
NM_173660.5(DOK7):c.1203G>C (p.Leu401=)
NM_173660.5(DOK7):c.1215T>C (p.Tyr405=)
NM_173660.5(DOK7):c.1218C>T (p.Asp406=)
NM_173660.5(DOK7):c.1227C>A (p.Arg409=) rs762828158
NM_173660.5(DOK7):c.1230C>T (p.Ser410=)
NM_173660.5(DOK7):c.1236C>T (p.Cys412=) rs556834250
NM_173660.5(DOK7):c.1237C>T (p.Leu413=)
NM_173660.5(DOK7):c.1239G>A (p.Leu413=)
NM_173660.5(DOK7):c.1242T>G (p.Ala414=)
NM_173660.5(DOK7):c.1251C>T (p.Asp417=)
NM_173660.5(DOK7):c.1257C>T (p.Ser419=)
NM_173660.5(DOK7):c.1260C>A (p.Pro420=)
NM_173660.5(DOK7):c.1262C>G (p.Pro421Arg)
NM_173660.5(DOK7):c.1263C>A (p.Pro421=) rs761693255
NM_173660.5(DOK7):c.1263C>G (p.Pro421=)
NM_173660.5(DOK7):c.1263C>T (p.Pro421=) rs761693255
NM_173660.5(DOK7):c.1275C>T (p.Ser425=)
NM_173660.5(DOK7):c.1278C>G (p.Pro426=) rs139468087
NM_173660.5(DOK7):c.1287T>C (p.Ser429=) rs1255756275
NM_173660.5(DOK7):c.1296G>A (p.Arg432=) rs1288310207
NM_173660.5(DOK7):c.129C>T (p.Asp43=)
NM_173660.5(DOK7):c.1305C>G (p.Gly435=) rs201894731
NM_173660.5(DOK7):c.1305C>T (p.Gly435=) rs201894731
NM_173660.5(DOK7):c.1308C>T (p.Gly436=)
NM_173660.5(DOK7):c.1313C>G (p.Thr438Arg) rs376805794
NM_173660.5(DOK7):c.1317C>G (p.Ser439=)
NM_173660.5(DOK7):c.1323G>A (p.Gly441=) rs755615582
NM_173660.5(DOK7):c.1329C>G (p.Pro443=) rs768213796
NM_173660.5(DOK7):c.1329C>T (p.Pro443=)
NM_173660.5(DOK7):c.1332T>G (p.Ser444=)
NM_173660.5(DOK7):c.1335C>T (p.Gly445=)
NM_173660.5(DOK7):c.1347G>C (p.Thr449=)
NM_173660.5(DOK7):c.1347G>T (p.Thr449=)
NM_173660.5(DOK7):c.1356G>C (p.Arg452=) rs1728663876
NM_173660.5(DOK7):c.1359C>T (p.Gly453=)
NM_173660.5(DOK7):c.135G>A (p.Ser45=)
NM_173660.5(DOK7):c.135G>C (p.Ser45=)
NM_173660.5(DOK7):c.1374C>T (p.Ala458=)
NM_173660.5(DOK7):c.1380G>A (p.Gln460=)
NM_173660.5(DOK7):c.1395A>G (p.Thr465=)
NM_173660.5(DOK7):c.1396C>T (p.Leu466=)
NM_173660.5(DOK7):c.1404C>A (p.Gly468=)
NM_173660.5(DOK7):c.1410C>T (p.Ala470=)
NM_173660.5(DOK7):c.1416C>T (p.Gly472=) rs769793776
NM_173660.5(DOK7):c.141T>C (p.Arg47=)
NM_173660.5(DOK7):c.1428A>G (p.Glu476=)
NM_173660.5(DOK7):c.1440C>G (p.Pro480=)
NM_173660.5(DOK7):c.1458G>T (p.Pro486=) rs763843300
NM_173660.5(DOK7):c.1467T>C (p.Phe489=)
NM_173660.5(DOK7):c.1470G>T (p.Ser490=)
NM_173660.5(DOK7):c.1473A>G (p.Ala491=)
NM_173660.5(DOK7):c.147G>A (p.Lys49=)
NM_173660.5(DOK7):c.1482C>A (p.Val494=)
NM_173660.5(DOK7):c.1497G>A (p.Lys499=)
NM_173660.5(DOK7):c.1503C>T (p.Asn501=)
NM_173660.5(DOK7):c.1506C>G (p.Pro502=)
NM_173660.5(DOK7):c.1508dup (p.Pro504fs) rs773220689
NM_173660.5(DOK7):c.1514G>A (p.Ter505=)
NM_173660.5(DOK7):c.159G>A (p.Glu53=) rs1008787863
NM_173660.5(DOK7):c.161G>A (p.Arg54His) rs201818140
NM_173660.5(DOK7):c.163A>G (p.Ser55Gly) rs550137245
NM_173660.5(DOK7):c.168C>T (p.Ser56=) rs2109336068
NM_173660.5(DOK7):c.174G>A (p.Thr58=)
NM_173660.5(DOK7):c.177A>G (p.Leu59=)
NM_173660.5(DOK7):c.186C>A (p.Ile62=)
NM_173660.5(DOK7):c.210C>G (p.Pro70=)
NM_173660.5(DOK7):c.231G>A (p.Thr77=)
NM_173660.5(DOK7):c.237C>T (p.Ala79=)
NM_173660.5(DOK7):c.252C>A (p.Ser84=)
NM_173660.5(DOK7):c.252C>G (p.Ser84=)
NM_173660.5(DOK7):c.252C>T (p.Ser84=)
NM_173660.5(DOK7):c.27C>A (p.Gly9=) rs768798756
NM_173660.5(DOK7):c.27C>T (p.Gly9=)
NM_173660.5(DOK7):c.288C>T (p.Ala96=) rs890259305
NM_173660.5(DOK7):c.294T>C (p.Cys98=)
NM_173660.5(DOK7):c.297G>T (p.Ala99=)
NM_173660.5(DOK7):c.309G>A (p.Arg103=)
NM_173660.5(DOK7):c.30G>A (p.Gln10=) rs1341926638
NM_173660.5(DOK7):c.324C>T (p.Leu108=)
NM_173660.5(DOK7):c.331+10G>A
NM_173660.5(DOK7):c.331+11GGGGCC[3] rs745546967
NM_173660.5(DOK7):c.331+14G>T
NM_173660.5(DOK7):c.331+15C>G
NM_173660.5(DOK7):c.331+15_331+16del
NM_173660.5(DOK7):c.331+17G>A
NM_173660.5(DOK7):c.331+18G>A
NM_173660.5(DOK7):c.331+20_331+25del
NM_173660.5(DOK7):c.331+7G>A
NM_173660.5(DOK7):c.332-107_332-4del rs1727060359
NM_173660.5(DOK7):c.332-12G>A
NM_173660.5(DOK7):c.332-12G>C
NM_173660.5(DOK7):c.332-15C>T
NM_173660.5(DOK7):c.332-17G>A
NM_173660.5(DOK7):c.332-4G>C
NM_173660.5(DOK7):c.332-7C>A
NM_173660.5(DOK7):c.332-95_332-18del
NM_173660.5(DOK7):c.332-9_332-8insTGCCCC
NM_173660.5(DOK7):c.333G>A (p.Val111=) rs1197491516
NM_173660.5(DOK7):c.336T>C (p.His112=)
NM_173660.5(DOK7):c.339G>A (p.Arg113=)
NM_173660.5(DOK7):c.363C>T (p.Gly121=) rs1427150506
NM_173660.5(DOK7):c.366C>G (p.Thr122=) rs1365607498
NM_173660.5(DOK7):c.36G>A (p.Lys12=)
NM_173660.5(DOK7):c.381C>T (p.Gly127=)
NM_173660.5(DOK7):c.384G>A (p.Pro128=)
NM_173660.5(DOK7):c.390C>G (p.Thr130=)
NM_173660.5(DOK7):c.390C>T (p.Thr130=)
NM_173660.5(DOK7):c.399C>G (p.Leu133=)
NM_173660.5(DOK7):c.399C>T (p.Leu133=) rs2109343497
NM_173660.5(DOK7):c.411C>A (p.Val137=)
NM_173660.5(DOK7):c.42G>A (p.Arg14=)
NM_173660.5(DOK7):c.435C>T (p.Pro145=)
NM_173660.5(DOK7):c.438G>A (p.Pro146=)
NM_173660.5(DOK7):c.447G>A (p.Thr149=)
NM_173660.5(DOK7):c.450G>A (p.Gly150=)
NM_173660.5(DOK7):c.45C>T (p.Asp15=) rs759054772
NM_173660.5(DOK7):c.468C>T (p.Asp156=)
NM_173660.5(DOK7):c.471C>T (p.Leu157=)
NM_173660.5(DOK7):c.48C>G (p.Gly16=)
NM_173660.5(DOK7):c.498A>T (p.Gly166=)
NM_173660.5(DOK7):c.501C>T (p.Phe167=) rs1374098055
NM_173660.5(DOK7):c.516G>T (p.Gly172=)
NM_173660.5(DOK7):c.532+13G>A
NM_173660.5(DOK7):c.532+15G>A
NM_173660.5(DOK7):c.532+20G>A rs2109344000
NM_173660.5(DOK7):c.532+8C>T
NM_173660.5(DOK7):c.533-15G>C
NM_173660.5(DOK7):c.533-16T>C
NM_173660.5(DOK7):c.533-19C>T
NM_173660.5(DOK7):c.533-4G>A
NM_173660.5(DOK7):c.533-6C>T rs1727716278
NM_173660.5(DOK7):c.533-8C>G
NM_173660.5(DOK7):c.533-9C>T
NM_173660.5(DOK7):c.54+11G>A
NM_173660.5(DOK7):c.54+13C>A
NM_173660.5(DOK7):c.54+16G>A
NM_173660.5(DOK7):c.54+20G>A rs1480112817
NM_173660.5(DOK7):c.54+20del rs1726078584
NM_173660.5(DOK7):c.54+21C>G
NM_173660.5(DOK7):c.54+21C>T rs865893625
NM_173660.5(DOK7):c.54+21_54+22del
NM_173660.5(DOK7):c.54+21del rs1170595407
NM_173660.5(DOK7):c.54+22G>A rs1726079112
NM_173660.5(DOK7):c.54+22G>T rs1726079112
NM_173660.5(DOK7):c.54+22_54+23insA
NM_173660.5(DOK7):c.54+22_54+23insC
NM_173660.5(DOK7):c.54+22_54+23insT
NM_173660.5(DOK7):c.54+23G>C rs781051112
NM_173660.5(DOK7):c.54+23G>T rs781051112
NM_173660.5(DOK7):c.54+23_54+24insCG
NM_173660.5(DOK7):c.54+23_54+24insT
NM_173660.5(DOK7):c.54+24G>A
NM_173660.5(DOK7):c.54+24G>C
NM_173660.5(DOK7):c.54+24_54+25insA
NM_173660.5(DOK7):c.54+24_54+25insC
NM_173660.5(DOK7):c.54+25G>A rs769791490
NM_173660.5(DOK7):c.54+25G>C
NM_173660.5(DOK7):c.54+25G>T
NM_173660.5(DOK7):c.54+25_54+26insA
NM_173660.5(DOK7):c.54+25_54+26insC rs767285554
NM_173660.5(DOK7):c.54+25_54+26insCG rs906657133
NM_173660.5(DOK7):c.54+25_54+26insT
NM_173660.5(DOK7):c.54+26G>A
NM_173660.5(DOK7):c.54+26G>C rs543525751
NM_173660.5(DOK7):c.54+26G>T rs543525751
NM_173660.5(DOK7):c.54+26_54+27insA
NM_173660.5(DOK7):c.54+26_54+27insAGGGG rs1553844254
NM_173660.5(DOK7):c.54+26_54+27insC
NM_173660.5(DOK7):c.54+26_54+27insT
NM_173660.5(DOK7):c.54+27G>A rs774468059
NM_173660.5(DOK7):c.54+27G>C rs774468059
NM_173660.5(DOK7):c.54+27G>T rs774468059
NM_173660.5(DOK7):c.54+27_54+28insA
NM_173660.5(DOK7):c.54+27_54+28insC rs1282356351
NM_173660.5(DOK7):c.54+27_54+28insCG
NM_173660.5(DOK7):c.54+27_54+28insT
NM_173660.5(DOK7):c.54+28G>A
NM_173660.5(DOK7):c.54+28G>C rs772575255
NM_173660.5(DOK7):c.54+28G>T rs772575255
NM_173660.5(DOK7):c.54+28_54+29insA rs777859905
NM_173660.5(DOK7):c.54+28_54+29insC
NM_173660.5(DOK7):c.54+28_54+29insCG
NM_173660.5(DOK7):c.54+28_54+29insT
NM_173660.5(DOK7):c.54+29G>A
NM_173660.5(DOK7):c.54+29G>C rs767030857
NM_173660.5(DOK7):c.54+29G>T rs767030857
NM_173660.5(DOK7):c.54+29_54+30insA
NM_173660.5(DOK7):c.54+29_54+30insC
NM_173660.5(DOK7):c.54+29_54+30insT
NM_173660.5(DOK7):c.54+30G>A rs562528761
NM_173660.5(DOK7):c.54+30G>T rs562528761
NM_173660.5(DOK7):c.54+30_54+31insA
NM_173660.5(DOK7):c.54+31G>A
NM_173660.5(DOK7):c.54+31G>C
NM_173660.5(DOK7):c.54+31GGGCGC[3]
NM_173660.5(DOK7):c.54+31_54+32insC
NM_173660.5(DOK7):c.54+31_54+32insCGCG
NM_173660.5(DOK7):c.54+32G>T
NM_173660.5(DOK7):c.54+32_54+33insCGCGG rs1485695721
NM_173660.5(DOK7):c.54+32_54+33insTG
NM_173660.5(DOK7):c.54+33G>A
NM_173660.5(DOK7):c.54+33G>C rs943989420
NM_173660.5(DOK7):c.54+33_54+34insGCGCGGG rs1553844286
NM_173660.5(DOK7):c.54+33_54+34insGGCGCGGG
NM_173660.5(DOK7):c.54+33del rs71180187
NM_173660.5(DOK7):c.54+34C>G
NM_173660.5(DOK7):c.54+34_54+37del
NM_173660.5(DOK7):c.54+34_54+38del
NM_173660.5(DOK7):c.54+34del rs1726087779
NM_173660.5(DOK7):c.54+34dup
NM_173660.5(DOK7):c.54+36C>G
NM_173660.5(DOK7):c.54+36_54+37del rs1289091767
NM_173660.5(DOK7):c.54+38G>C
NM_173660.5(DOK7):c.54+7G>A
NM_173660.5(DOK7):c.54+8_54+17dup
NM_173660.5(DOK7):c.54+9G>A
NM_173660.5(DOK7):c.540C>T (p.Gly180=)
NM_173660.5(DOK7):c.549C>T (p.Phe183=) rs1448680067
NM_173660.5(DOK7):c.55-12C>G
NM_173660.5(DOK7):c.55-13C>G rs886038744
NM_173660.5(DOK7):c.55-13C>T
NM_173660.5(DOK7):c.55-15C>G
NM_173660.5(DOK7):c.55-16C>A rs976572936
NM_173660.5(DOK7):c.55-17C>T
NM_173660.5(DOK7):c.55-18_55-17insA
NM_173660.5(DOK7):c.55-38G>A
NM_173660.5(DOK7):c.55-4G>A
NM_173660.5(DOK7):c.55-8C>T rs2109312415
NM_173660.5(DOK7):c.550C>T (p.Leu184=)
NM_173660.5(DOK7):c.558G>A (p.Ser186=)
NM_173660.5(DOK7):c.558G>T (p.Ser186=)
NM_173660.5(DOK7):c.570G>A (p.Glu190=) rs962876610
NM_173660.5(DOK7):c.576C>T (p.Ile192=)
NM_173660.5(DOK7):c.588C>T (p.Phe196=) rs149940009
NM_173660.5(DOK7):c.597C>A (p.Ile199=)
NM_173660.5(DOK7):c.600C>A (p.Val200=)
NM_173660.5(DOK7):c.603A>C (p.Arg201=)
NM_173660.5(DOK7):c.60G>A (p.Lys20=)
NM_173660.5(DOK7):c.612C>T (p.Ser204=) rs2109370734
NM_173660.5(DOK7):c.615C>A (p.Pro205=)
NM_173660.5(DOK7):c.615C>G (p.Pro205=) rs553239093
NM_173660.5(DOK7):c.615C>T (p.Pro205=) rs553239093
NM_173660.5(DOK7):c.618C>A (p.Thr206=)
NM_173660.5(DOK7):c.621G>A (p.Lys207=)
NM_173660.5(DOK7):c.633G>T (p.Gly211=) rs1577165754
NM_173660.5(DOK7):c.642G>A (p.Pro214=)
NM_173660.5(DOK7):c.642G>C (p.Pro214=) rs746371931
NM_173660.5(DOK7):c.652+16T>G
NM_173660.5(DOK7):c.652+20C>G
NM_173660.5(DOK7):c.652+20C>T
NM_173660.5(DOK7):c.652+8T>C
NM_173660.5(DOK7):c.652+9G>A
NM_173660.5(DOK7):c.653-11_653-8del
NM_173660.5(DOK7):c.653-13C>T
NM_173660.5(DOK7):c.653-18G>A
NM_173660.5(DOK7):c.653-20G>A
NM_173660.5(DOK7):c.653-20G>C
NM_173660.5(DOK7):c.653-20del
NM_173660.5(DOK7):c.653-4A>G rs1577171863
NM_173660.5(DOK7):c.653-5C>T
NM_173660.5(DOK7):c.657A>G (p.Pro219=)
NM_173660.5(DOK7):c.657A>T (p.Pro219=)
NM_173660.5(DOK7):c.663C>T (p.Pro221=)
NM_173660.5(DOK7):c.666G>T (p.Pro222=)
NM_173660.5(DOK7):c.66G>A (p.Arg22=) rs1726093217
NM_173660.5(DOK7):c.678T>G (p.Thr226=)
NM_173660.5(DOK7):c.690T>G (p.Arg230=) rs1577172106
NM_173660.5(DOK7):c.696C>T (p.Ala232=)
NM_173660.5(DOK7):c.699G>A (p.Gln233=)
NM_173660.5(DOK7):c.6C>T (p.Thr2=)
NM_173660.5(DOK7):c.702A>G (p.Glu234=)
NM_173660.5(DOK7):c.708G>A (p.Leu236=)
NM_173660.5(DOK7):c.714C>A (p.Thr238=)
NM_173660.5(DOK7):c.714C>T (p.Thr238=)
NM_173660.5(DOK7):c.717A>G (p.Leu239=)
NM_173660.5(DOK7):c.720G>A (p.Gln240=)
NM_173660.5(DOK7):c.752C>A (p.Ala251Glu) rs376251309
NM_173660.5(DOK7):c.753G>C (p.Ala251=) rs59932476
NM_173660.5(DOK7):c.753G>T (p.Ala251=)
NM_173660.5(DOK7):c.757A>C (p.Arg253=)
NM_173660.5(DOK7):c.762G>C (p.Pro254=)
NM_173660.5(DOK7):c.768T>C (p.Ser256=)
NM_173660.5(DOK7):c.772+13G>A
NM_173660.5(DOK7):c.772+14C>T rs201023802
NM_173660.5(DOK7):c.772+14del
NM_173660.5(DOK7):c.772+8C>G
NM_173660.5(DOK7):c.773-10T>G
NM_173660.5(DOK7):c.773-11C>T
NM_173660.5(DOK7):c.773-13T>C
NM_173660.5(DOK7):c.773-15C>G
NM_173660.5(DOK7):c.773-15C>T
NM_173660.5(DOK7):c.773-19G>T
NM_173660.5(DOK7):c.773-7_773-4del
NM_173660.5(DOK7):c.773-9C>G
NM_173660.5(DOK7):c.773-9C>T rs376190589
NM_173660.5(DOK7):c.781C>G (p.Arg261Gly) rs142821143
NM_173660.5(DOK7):c.783C>G (p.Arg261=) rs1366900661
NM_173660.5(DOK7):c.789G>A (p.Leu263=)
NM_173660.5(DOK7):c.798A>G (p.Ser266=)
NM_173660.5(DOK7):c.801C>T (p.Ser267=)
NM_173660.5(DOK7):c.819G>A (p.Leu273=)
NM_173660.5(DOK7):c.825C>G (p.Val275=)
NM_173660.5(DOK7):c.840G>C (p.Arg280=)
NM_173660.5(DOK7):c.855A>G (p.Pro285=)
NM_173660.5(DOK7):c.858G>A (p.Glu286=)
NM_173660.5(DOK7):c.861A>G (p.Gln287=)
NM_173660.5(DOK7):c.867G>A (p.Ser289=)
NM_173660.5(DOK7):c.867G>C (p.Ser289=) rs145862647
NM_173660.5(DOK7):c.870G>A (p.Ser290=) rs149019681
NM_173660.5(DOK7):c.870G>C (p.Ser290=)
NM_173660.5(DOK7):c.873A>G (p.Ser291=)
NM_173660.5(DOK7):c.87G>A (p.Pro29=)
NM_173660.5(DOK7):c.882G>C (p.Thr294=)
NM_173660.5(DOK7):c.891G>A (p.Glu297=)
NM_173660.5(DOK7):c.894G>T (p.Gly298=)
NM_173660.5(DOK7):c.906A>G (p.Ala302=)
NM_173660.5(DOK7):c.918C>G (p.Ala306=) rs141947707
NM_173660.5(DOK7):c.921C>G (p.Ala307=)
NM_173660.5(DOK7):c.924G>C (p.Gly308=)
NM_173660.5(DOK7):c.927A>G (p.Glu309=)
NM_173660.5(DOK7):c.93C>T (p.Pro31=)
NM_173660.5(DOK7):c.946A>C (p.Arg316=) rs898373845
NM_173660.5(DOK7):c.956C>A (p.Pro319His) rs376334067
NM_173660.5(DOK7):c.957C>T (p.Pro319=) rs777573281
NM_173660.5(DOK7):c.960G>A (p.Lys320=)
NM_173660.5(DOK7):c.963G>A (p.Pro321=) rs112624739
NM_173660.5(DOK7):c.963G>T (p.Pro321=)
NM_173660.5(DOK7):c.964C>T (p.Leu322=)
NM_173660.5(DOK7):c.96G>A (p.Val32=)
NM_173660.5(DOK7):c.96G>T (p.Val32=)
NM_173660.5(DOK7):c.973C>A (p.Arg325=) rs376280466
NM_173660.5(DOK7):c.987G>A (p.Glu329=)
NM_173660.5(DOK7):c.993C>G (p.Gly331=)
NM_173660.5(DOK7):c.999G>A (p.Gln333=)
NM_198576.4(AGRN):c.1011G>A (p.Thr337=)
NM_198576.4(AGRN):c.1017C>T (p.Arg339=)
NM_198576.4(AGRN):c.1033C>A (p.Arg345=)
NM_198576.4(AGRN):c.1053C>T (p.Ala351=)
NM_198576.4(AGRN):c.1068G>T (p.Val356=)
NM_198576.4(AGRN):c.1092C>T (p.Tyr364=) rs1436268521
NM_198576.4(AGRN):c.1119G>A (p.Ser373=)
NM_198576.4(AGRN):c.1119G>C (p.Ser373=)
NM_198576.4(AGRN):c.1140C>T (p.Leu380=)
NM_198576.4(AGRN):c.1173T>C (p.Gly391=)
NM_198576.4(AGRN):c.1177+11C>A rs746403405
NM_198576.4(AGRN):c.1177+13C>T
NM_198576.4(AGRN):c.1177+15C>G rs770405970
NM_198576.4(AGRN):c.1178-7_1178-6inv
NM_198576.4(AGRN):c.1216C>T (p.Leu406=) rs769507883
NM_198576.4(AGRN):c.1245C>G (p.Ser415=)
NM_198576.4(AGRN):c.1251C>T (p.Asp417=)
NM_198576.4(AGRN):c.1254C>G (p.Arg418=)
NM_198576.4(AGRN):c.1275C>T (p.Tyr425=)
NM_198576.4(AGRN):c.1329G>A (p.Gln443=) rs1644960998
NM_198576.4(AGRN):c.1338G>A (p.Glu446=)
NM_198576.4(AGRN):c.1359C>T (p.Ile453=)
NM_198576.4(AGRN):c.1380G>C (p.Pro460=)
NM_198576.4(AGRN):c.1384+11dup rs753318299
NM_198576.4(AGRN):c.1384+7G>A rs552044488
NM_198576.4(AGRN):c.1384+7G>C rs552044488
NM_198576.4(AGRN):c.1385-16_1385-15del rs200933055
NM_198576.4(AGRN):c.1385-19G>A
NM_198576.4(AGRN):c.1392C>T (p.Ala464=)
NM_198576.4(AGRN):c.1401A>G (p.Pro467=) rs763998310
NM_198576.4(AGRN):c.1407C>T (p.Leu469=) rs757288952
NM_198576.4(AGRN):c.1431G>A (p.Ala477=) rs755387116
NM_198576.4(AGRN):c.144C>T (p.Thr48=) rs1282970149
NM_198576.4(AGRN):c.1473G>T (p.Leu491=)
NM_198576.4(AGRN):c.1485G>C (p.Ser495=)
NM_198576.4(AGRN):c.1494C>T (p.Tyr498=) rs772353280
NM_198576.4(AGRN):c.1536G>A (p.Ala512=) rs747376278
NM_198576.4(AGRN):c.1554G>A (p.Thr518=)
NM_198576.4(AGRN):c.1563C>T (p.Thr521=) rs1570205843
NM_198576.4(AGRN):c.1599C>T (p.Pro533=)
NM_198576.4(AGRN):c.159G>A (p.Glu53=) rs2100555876
NM_198576.4(AGRN):c.1604-17T>C rs2100645110
NM_198576.4(AGRN):c.1604-19G>C rs778914116
NM_198576.4(AGRN):c.1614G>C (p.Gly538=) rs2100645293
NM_198576.4(AGRN):c.1620C>T (p.Cys540=)
NM_198576.4(AGRN):c.1644C>T (p.Ala548=)
NM_198576.4(AGRN):c.1650C>G (p.Thr550=) rs201719609
NM_198576.4(AGRN):c.1650C>T (p.Thr550=) rs201719609
NM_198576.4(AGRN):c.1653G>A (p.Gly551=)
NM_198576.4(AGRN):c.165C>T (p.Leu55=)
NM_198576.4(AGRN):c.1707C>T (p.Ser569=)
NM_198576.4(AGRN):c.1719G>T (p.Thr573=) rs150246085
NM_198576.4(AGRN):c.1731G>A (p.Glu577=)
NM_198576.4(AGRN):c.1764G>A (p.Gln588=) rs2100645986
NM_198576.4(AGRN):c.1773G>A (p.Leu591=)
NM_198576.4(AGRN):c.1798+13C>T
NM_198576.4(AGRN):c.1798+9G>A
NM_198576.4(AGRN):c.1799-4G>A rs1362676470
NM_198576.4(AGRN):c.189G>C (p.Thr63=) rs1570124875
NM_198576.4(AGRN):c.1920C>T (p.Gly640=) rs763833644
NM_198576.4(AGRN):c.1932G>A (p.Glu644=) rs1645019549
NM_198576.4(AGRN):c.1941A>G (p.Glu647=)
NM_198576.4(AGRN):c.1944C>T (p.Ala648=)
NM_198576.4(AGRN):c.1968C>A (p.Ile656=) rs770946661
NM_198576.4(AGRN):c.1968C>T (p.Ile656=)
NM_198576.4(AGRN):c.1974G>A (p.Glu658=) rs1230399331
NM_198576.4(AGRN):c.1983A>G (p.Ala661=)
NM_198576.4(AGRN):c.1992C>T (p.Cys664=)
NM_198576.4(AGRN):c.1999+15G>A
NM_198576.4(AGRN):c.201+17C>T rs2100556027
NM_198576.4(AGRN):c.201+18C>G
NM_198576.4(AGRN):c.201+19C>G rs780017933
NM_198576.4(AGRN):c.201+19C>T rs780017933
NM_198576.4(AGRN):c.202-6C>T
NM_198576.4(AGRN):c.2085C>T (p.Asp695=)
NM_198576.4(AGRN):c.2121C>T (p.Phe707=)
NM_198576.4(AGRN):c.2148+13C>T rs1344311577
NM_198576.4(AGRN):c.2148+14C>T
NM_198576.4(AGRN):c.2149-18A>G
NM_198576.4(AGRN):c.2169C>T (p.Val723=)
NM_198576.4(AGRN):c.2190G>A (p.Glu730=)
NM_198576.4(AGRN):c.2199G>A (p.Lys733=)
NM_198576.4(AGRN):c.21G>T (p.Pro7=)
NM_198576.4(AGRN):c.2229C>T (p.Tyr743=)
NM_198576.4(AGRN):c.2235G>T (p.Ala745=) rs542660796
NM_198576.4(AGRN):c.2254+15C>T
NM_198576.4(AGRN):c.2254+16G>C rs114389542
NM_198576.4(AGRN):c.2254+18G>C
NM_198576.4(AGRN):c.2254+19G>A
NM_198576.4(AGRN):c.2254+7C>T
NM_198576.4(AGRN):c.2255-11C>T
NM_198576.4(AGRN):c.2255-16G>A
NM_198576.4(AGRN):c.2255-16G>T rs779589340
NM_198576.4(AGRN):c.2255-17C>T rs200841427
NM_198576.4(AGRN):c.2255-4G>A rs1570215835
NM_198576.4(AGRN):c.225G>A (p.Lys75=)
NM_198576.4(AGRN):c.2286C>T (p.Ala762=) rs1205105049
NM_198576.4(AGRN):c.2310C>G (p.Pro770=)
NM_198576.4(AGRN):c.231A>G (p.Lys77=) rs1446604818
NM_198576.4(AGRN):c.2325G>A (p.Gln775=)
NM_198576.4(AGRN):c.2372-7C>T rs1384767916
NM_198576.4(AGRN):c.2376C>T (p.Ala792=) rs1570217131
NM_198576.4(AGRN):c.2391C>G (p.Pro797=) rs892393732
NM_198576.4(AGRN):c.2406C>A (p.Gly802=) rs75774767
NM_198576.4(AGRN):c.2421A>G (p.Pro807=)
NM_198576.4(AGRN):c.2424C>T (p.Ala808=) rs1553176121
NM_198576.4(AGRN):c.243C>A (p.Ala81=) rs1395381200
NM_198576.4(AGRN):c.2457G>A (p.Gly819=) rs112039851
NM_198576.4(AGRN):c.2457G>C (p.Gly819=) rs112039851
NM_198576.4(AGRN):c.2466G>A (p.Arg822=)
NM_198576.4(AGRN):c.2475C>T (p.Arg825=)
NM_198576.4(AGRN):c.24C>T (p.Gly8=)
NM_198576.4(AGRN):c.2514C>T (p.Thr838=) rs199577370
NM_198576.4(AGRN):c.2517T>C (p.Asp839=) rs1645065952
NM_198576.4(AGRN):c.2536+14C>T rs1293258104
NM_198576.4(AGRN):c.2537-11T>A rs2100655297
NM_198576.4(AGRN):c.2537-13A>G
NM_198576.4(AGRN):c.2538C>T (p.Pro846=) rs376387543
NM_198576.4(AGRN):c.2562C>G (p.Ala854=)
NM_198576.4(AGRN):c.2601G>C (p.Ser867=) rs144794590
NM_198576.4(AGRN):c.2601G>T (p.Ser867=) rs144794590
NM_198576.4(AGRN):c.2619T>C (p.Ala873=)
NM_198576.4(AGRN):c.2637G>A (p.Gln879=) rs1267005027
NM_198576.4(AGRN):c.264C>T (p.Gly88=)
NM_198576.4(AGRN):c.2655C>G (p.Ala885=)
NM_198576.4(AGRN):c.2670C>T (p.Gly890=) rs1019506413
NM_198576.4(AGRN):c.2680+10G>A
NM_198576.4(AGRN):c.2681-18C>T
NM_198576.4(AGRN):c.2681-7G>T rs1557709524
NM_198576.4(AGRN):c.2694T>C (p.Pro898=) rs2100656637
NM_198576.4(AGRN):c.2697G>A (p.Ala899=)
NM_198576.4(AGRN):c.2724C>T (p.Phe908=)
NM_198576.4(AGRN):c.2772G>A (p.Pro924=)
NM_198576.4(AGRN):c.2799T>A (p.Ala933=) rs1286031168
NM_198576.4(AGRN):c.27G>A (p.Pro9=) rs1360432726
NM_198576.4(AGRN):c.2805+12G>A
NM_198576.4(AGRN):c.2805+7G>T
NM_198576.4(AGRN):c.2805+9T>G
NM_198576.4(AGRN):c.2806-14G>A
NM_198576.4(AGRN):c.2806-15T>C rs2100657449
NM_198576.4(AGRN):c.2806-18C>T
NM_198576.4(AGRN):c.2806-5C>T rs200385841
NM_198576.4(AGRN):c.2806-6C>T rs1570221889
NM_198576.4(AGRN):c.2808C>G (p.Val936=)
NM_198576.4(AGRN):c.2859C>T (p.Ile953=)
NM_198576.4(AGRN):c.2877G>A (p.Leu959=)
NM_198576.4(AGRN):c.2877G>T (p.Leu959=)
NM_198576.4(AGRN):c.2883C>T (p.Ile961=) rs1243145715
NM_198576.4(AGRN):c.2889C>T (p.Ile963=)
NM_198576.4(AGRN):c.288C>T (p.Gly96=)
NM_198576.4(AGRN):c.28C>T (p.Leu10=) rs1226970553
NM_198576.4(AGRN):c.2904G>A (p.Pro968=) rs761226422
NM_198576.4(AGRN):c.2904G>C (p.Pro968=) rs761226422
NM_198576.4(AGRN):c.2911+12C>T
NM_198576.4(AGRN):c.2922T>C (p.Ala974=)
NM_198576.4(AGRN):c.2925C>T (p.Pro975=)
NM_198576.4(AGRN):c.2937G>A (p.Pro979=) rs752408613
NM_198576.4(AGRN):c.2943T>C (p.Ser981=) rs1645095961
NM_198576.4(AGRN):c.2949C>G (p.Ser983=) rs757512885
NM_198576.4(AGRN):c.2949C>T (p.Ser983=) rs757512885
NM_198576.4(AGRN):c.2967A>G (p.Pro989=)
NM_198576.4(AGRN):c.3015C>T (p.Pro1005=) rs547720389
NM_198576.4(AGRN):c.3081T>G (p.Thr1027=)
NM_198576.4(AGRN):c.3117G>C (p.Leu1039=)
NM_198576.4(AGRN):c.3120G>A (p.Thr1040=) rs747197185
NM_198576.4(AGRN):c.3120G>C (p.Thr1040=) rs747197185
NM_198576.4(AGRN):c.3129C>A (p.Pro1043=) rs1570224825
NM_198576.4(AGRN):c.3131C>T (p.Thr1044Met)
NM_198576.4(AGRN):c.3153C>T (p.Ser1051=) rs1367992401
NM_198576.4(AGRN):c.3162G>C (p.Ala1054=)
NM_198576.4(AGRN):c.318G>A (p.Gln106=)
NM_198576.4(AGRN):c.3211C>T (p.Leu1071=)
NM_198576.4(AGRN):c.3251-12G>C
NM_198576.4(AGRN):c.3255C>A (p.Leu1085=) rs775823409
NM_198576.4(AGRN):c.3255C>G (p.Leu1085=)
NM_198576.4(AGRN):c.3318C>T (p.Tyr1106=) rs2100661340
NM_198576.4(AGRN):c.3389-16T>C
NM_198576.4(AGRN):c.3399G>A (p.Val1133=)
NM_198576.4(AGRN):c.339G>A (p.Arg113=) rs1325478476
NM_198576.4(AGRN):c.3412C>T (p.Leu1138=)
NM_198576.4(AGRN):c.3418C>T (p.Leu1140=)
NM_198576.4(AGRN):c.3426C>T (p.Gly1142=)
NM_198576.4(AGRN):c.3435C>T (p.Gly1145=) rs1231692850
NM_198576.4(AGRN):c.3447C>T (p.Phe1149=) rs771731587
NM_198576.4(AGRN):c.3486C>T (p.Phe1162=) rs752179442
NM_198576.4(AGRN):c.3489G>C (p.Gly1163=)
NM_198576.4(AGRN):c.3501G>A (p.Arg1167=) rs745963689
NM_198576.4(AGRN):c.3504C>T (p.Ser1168=)
NM_198576.4(AGRN):c.3516+13C>T
NM_198576.4(AGRN):c.3516+19C>A
NM_198576.4(AGRN):c.3516+9G>A
NM_198576.4(AGRN):c.3525C>T (p.Asp1175=) rs1157889544
NM_198576.4(AGRN):c.3561G>C (p.Arg1187=)
NM_198576.4(AGRN):c.3580C>T (p.Leu1194=)
NM_198576.4(AGRN):c.3585G>A (p.Gly1195=) rs2100665007
NM_198576.4(AGRN):c.3597C>T (p.Ser1199=)
NM_198576.4(AGRN):c.3621C>T (p.His1207=)
NM_198576.4(AGRN):c.3631+10G>C rs1645139691
NM_198576.4(AGRN):c.3631+8C>T rs1222277685
NM_198576.4(AGRN):c.3632-16G>C
NM_198576.4(AGRN):c.3632-4C>G rs370599253
NM_198576.4(AGRN):c.3645G>A (p.Arg1215=) rs2100665696
NM_198576.4(AGRN):c.3666C>A (p.Ala1222=)
NM_198576.4(AGRN):c.36G>A (p.Pro12=)
NM_198576.4(AGRN):c.36G>C (p.Pro12=) rs1181200410
NM_198576.4(AGRN):c.3735G>A (p.Val1245=) rs2100666417
NM_198576.4(AGRN):c.3751+10A>G
NM_198576.4(AGRN):c.3751+16C>T
NM_198576.4(AGRN):c.3751+17G>C
NM_198576.4(AGRN):c.3751+20C>A
NM_198576.4(AGRN):c.3751+7G>A rs780934260
NM_198576.4(AGRN):c.3825T>C (p.Thr1275=)
NM_198576.4(AGRN):c.3864C>T (p.Ala1288=)
NM_198576.4(AGRN):c.3933C>T (p.Pro1311=)
NM_198576.4(AGRN):c.3936C>G (p.Thr1312=) rs775175131
NM_198576.4(AGRN):c.3948C>T (p.Ser1316=)
NM_198576.4(AGRN):c.3957C>T (p.Pro1319=)
NM_198576.4(AGRN):c.3975C>A (p.Ala1325=) rs769321224
NM_198576.4(AGRN):c.3984G>A (p.Gln1328=) rs866622340
NM_198576.4(AGRN):c.4021G>A (p.Gly1341Arg) rs372543866
NM_198576.4(AGRN):c.4044A>G (p.Ala1348=)
NM_198576.4(AGRN):c.405C>T (p.Asn135=) rs1644426137
NM_198576.4(AGRN):c.4062C>T (p.Thr1354=) rs2100669683
NM_198576.4(AGRN):c.4089C>T (p.Gly1363=)
NM_198576.4(AGRN):c.4106-11G>A
NM_198576.4(AGRN):c.4106-14G>T
NM_198576.4(AGRN):c.4106-18C>T rs919606136
NM_198576.4(AGRN):c.4152C>T (p.Ala1384=)
NM_198576.4(AGRN):c.4158C>T (p.Pro1386=)
NM_198576.4(AGRN):c.4206G>A (p.Ala1402=)
NM_198576.4(AGRN):c.4225C>T (p.Leu1409=) rs1181560428
NM_198576.4(AGRN):c.4227G>A (p.Leu1409=) rs1378046777
NM_198576.4(AGRN):c.4236T>C (p.Asn1412=) rs768957231
NM_198576.4(AGRN):c.4242C>T (p.Asn1414=)
NM_198576.4(AGRN):c.4248G>A (p.Arg1416=)
NM_198576.4(AGRN):c.4248G>C (p.Arg1416=) rs1251852499
NM_198576.4(AGRN):c.4260C>T (p.Phe1420=) rs985182576
NM_198576.4(AGRN):c.4287C>G (p.Arg1429=) rs540390242
NM_198576.4(AGRN):c.4287C>T (p.Arg1429=) rs540390242
NM_198576.4(AGRN):c.4298+16A>G rs1218750135
NM_198576.4(AGRN):c.4298+16del
NM_198576.4(AGRN):c.4298+18G>A rs531723104
NM_198576.4(AGRN):c.4298+18G>C rs531723104
NM_198576.4(AGRN):c.4298+18G>T
NM_198576.4(AGRN):c.4298+21_4298+22insGGGGGAGGGGGGGG
NM_198576.4(AGRN):c.4298+21_4298+55del rs1156907002
NM_198576.4(AGRN):c.4298+22_4298+58del rs769295738
NM_198576.4(AGRN):c.4298+41_4298+88del rs776309511
NM_198576.4(AGRN):c.4298+55_4298+56insGGGGAGGGGGGGCCGGGGCAGCTCAGGTGGGCGGGGAGGGGACGGG
NM_198576.4(AGRN):c.4298+55_4298+56insGGGGGAGGGGGGGCCGGGGCAGCTCAGGTGGGCGGGGAGGGGACGGG
NM_198576.4(AGRN):c.4298+7GGGGA[3] rs1333053420
NM_198576.4(AGRN):c.4298+9G>C
NM_198576.4(AGRN):c.4299-14G>C
NM_198576.4(AGRN):c.4299-5C>G
NM_198576.4(AGRN):c.4305C>T (p.Asp1435=) rs1225701192
NM_198576.4(AGRN):c.4335T>C (p.Ser1445=)
NM_198576.4(AGRN):c.4344G>A (p.Pro1448=) rs1321979292
NM_198576.4(AGRN):c.4356C>A (p.Gly1452=) rs2100675922
NM_198576.4(AGRN):c.4398C>T (p.Gly1466=)
NM_198576.4(AGRN):c.4410G>T (p.Val1470=)
NM_198576.4(AGRN):c.4458C>T (p.Gly1486=) rs1286044353
NM_198576.4(AGRN):c.4464C>T (p.Asn1488=)
NM_198576.4(AGRN):c.4488C>A (p.Gly1496=) rs748221306
NM_198576.4(AGRN):c.4497C>T (p.Pro1499=)
NM_198576.4(AGRN):c.4506G>A (p.Gln1502=)
NM_198576.4(AGRN):c.4514+10_4514+29del rs1645207851
NM_198576.4(AGRN):c.4514+16G>A
NM_198576.4(AGRN):c.4514+16_4514+17delinsCA rs2100676874
NM_198576.4(AGRN):c.4514+20G>A rs1335698044
NM_198576.4(AGRN):c.4514+8C>T
NM_198576.4(AGRN):c.4515-10C>T rs2100677405
NM_198576.4(AGRN):c.4515-11C>T
NM_198576.4(AGRN):c.4515-17G>A
NM_198576.4(AGRN):c.4515-20G>A rs370560913
NM_198576.4(AGRN):c.4533C>T (p.Phe1511=)
NM_198576.4(AGRN):c.4539C>T (p.Gly1513=)
NM_198576.4(AGRN):c.4546C>T (p.Leu1516=) rs1645213379
NM_198576.4(AGRN):c.4567C>T (p.Leu1523=) rs1470474265
NM_198576.4(AGRN):c.4588C>T (p.Leu1530=)
NM_198576.4(AGRN):c.4590G>A (p.Leu1530=)
NM_198576.4(AGRN):c.4626C>T (p.Gly1542=) rs1420757030
NM_198576.4(AGRN):c.463+10G>T
NM_198576.4(AGRN):c.463+16C>T
NM_198576.4(AGRN):c.463+17del
NM_198576.4(AGRN):c.464-14T>G
NM_198576.4(AGRN):c.464-4C>T rs1467185700
NM_198576.4(AGRN):c.4665C>T (p.Pro1555=)
NM_198576.4(AGRN):c.4683G>T (p.Gly1561=)
NM_198576.4(AGRN):c.4713G>A (p.Arg1571=) rs752191523
NM_198576.4(AGRN):c.4716C>T (p.Phe1572=)
NM_198576.4(AGRN):c.4734C>A (p.Pro1578=)
NM_198576.4(AGRN):c.4744+15G>A
NM_198576.4(AGRN):c.4744+15G>C
NM_198576.4(AGRN):c.4744+20G>A
NM_198576.4(AGRN):c.4744+6_4744+26dup
NM_198576.4(AGRN):c.4745-11C>T
NM_198576.4(AGRN):c.4745-14C>T
NM_198576.4(AGRN):c.4745-16G>A
NM_198576.4(AGRN):c.4745-19C>T
NM_198576.4(AGRN):c.4745-8C>T rs2100679597
NM_198576.4(AGRN):c.4752C>T (p.Thr1584=) rs1645227009
NM_198576.4(AGRN):c.4773C>T (p.Pro1591=) rs1043129674
NM_198576.4(AGRN):c.4779_4793del (p.Gln1593_Cys1597del) rs769494139
NM_198576.4(AGRN):c.4803G>A (p.Ala1601=)
NM_198576.4(AGRN):c.480C>T (p.His160=)
NM_198576.4(AGRN):c.4880-10C>T rs779162517
NM_198576.4(AGRN):c.48C>T (p.Leu16=)
NM_198576.4(AGRN):c.4923C>T (p.Asn1641=)
NM_198576.4(AGRN):c.4926C>T (p.Gly1642=)
NM_198576.4(AGRN):c.4932C>G (p.Ser1644=) rs1398658899
NM_198576.4(AGRN):c.4947A>G (p.Arg1649=)
NM_198576.4(AGRN):c.4959C>T (p.Thr1653=)
NM_198576.4(AGRN):c.4966C>A (p.Arg1656=) rs145111679
NM_198576.4(AGRN):c.4966C>T (p.Arg1656Trp) rs145111679
NM_198576.4(AGRN):c.4971C>T (p.Asp1657=)
NM_198576.4(AGRN):c.4976+14G>C
NM_198576.4(AGRN):c.4976+16G>A
NM_198576.4(AGRN):c.4977-14C>T rs1460578627
NM_198576.4(AGRN):c.4977-18G>A
NM_198576.4(AGRN):c.5001G>A (p.Val1667=)
NM_198576.4(AGRN):c.5011C>A (p.Arg1671=)
NM_198576.4(AGRN):c.5022C>T (p.Ser1674=)
NM_198576.4(AGRN):c.511+19G>A
NM_198576.4(AGRN):c.5112C>T (p.Tyr1704=)
NM_198576.4(AGRN):c.512-11A>C
NM_198576.4(AGRN):c.512-14C>G rs1557699288
NM_198576.4(AGRN):c.512-16C>G
NM_198576.4(AGRN):c.512-7G>C
NM_198576.4(AGRN):c.512-8C>T rs1644904685
NM_198576.4(AGRN):c.513G>A (p.Ala171=)
NM_198576.4(AGRN):c.5141+8G>A
NM_198576.4(AGRN):c.5142-10T>C
NM_198576.4(AGRN):c.5142-11C>T
NM_198576.4(AGRN):c.5142-13C>T
NM_198576.4(AGRN):c.5142-9C>G rs371589437
NM_198576.4(AGRN):c.5241G>A (p.Leu1747=)
NM_198576.4(AGRN):c.5253+16C>T
NM_198576.4(AGRN):c.5253+17G>A rs544870363
NM_198576.4(AGRN):c.5253+17G>T
NM_198576.4(AGRN):c.5253+18C>T rs189784653
NM_198576.4(AGRN):c.5253+19G>A rs369428707
NM_198576.4(AGRN):c.5253+8C>T
NM_198576.4(AGRN):c.5253+9T>G rs1328340844
NM_198576.4(AGRN):c.5254-10G>A
NM_198576.4(AGRN):c.5254-10G>T rs778226267
NM_198576.4(AGRN):c.5254-11C>T
NM_198576.4(AGRN):c.5254-12G>A
NM_198576.4(AGRN):c.5254-16C>A rs546981001
NM_198576.4(AGRN):c.5259G>C (p.Pro1753=) rs771715098
NM_198576.4(AGRN):c.5271C>A (p.Leu1757=)
NM_198576.4(AGRN):c.5286G>A (p.Pro1762=)
NM_198576.4(AGRN):c.5307C>T (p.Pro1769=) rs960113611
NM_198576.4(AGRN):c.5325C>T (p.Ala1775=) rs1645280773
NM_198576.4(AGRN):c.5331T>C (p.Ala1777=)
NM_198576.4(AGRN):c.5334T>C (p.Ala1778=) rs1553178299
NM_198576.4(AGRN):c.5337C>G (p.Ala1779=)
NM_198576.4(AGRN):c.5355C>T (p.Asp1785=) rs372556198
NM_198576.4(AGRN):c.5370+11dup rs1570248992
NM_198576.4(AGRN):c.5370+12C>T
NM_198576.4(AGRN):c.5370+17C>T
NM_198576.4(AGRN):c.5371-12C>T
NM_198576.4(AGRN):c.5371-15C>T
NM_198576.4(AGRN):c.5371-9G>C
NM_198576.4(AGRN):c.5382A>G (p.Gly1794=)
NM_198576.4(AGRN):c.5388C>A (p.Arg1796=) rs1490186105
NM_198576.4(AGRN):c.5403G>A (p.Pro1801=)
NM_198576.4(AGRN):c.5409C>T (p.His1803=) rs192987166
NM_198576.4(AGRN):c.5433G>A (p.Thr1811=) rs564987392
NM_198576.4(AGRN):c.5469C>A (p.Gly1823=) rs2100689188
NM_198576.4(AGRN):c.5475C>T (p.Pro1825=)
NM_198576.4(AGRN):c.5493C>T (p.Ser1831=)
NM_198576.4(AGRN):c.5523C>T (p.Cys1841=) rs764192209
NM_198576.4(AGRN):c.5524C>T (p.Leu1842=) rs1570250021
NM_198576.4(AGRN):c.5526G>A (p.Leu1842=)
NM_198576.4(AGRN):c.5541C>T (p.Phe1847=)
NM_198576.4(AGRN):c.5547A>C (p.Gly1849=) rs569296472
NM_198576.4(AGRN):c.5550G>T (p.Pro1850=) rs74045090
NM_198576.4(AGRN):c.5563+12A>C rs757938137
NM_198576.4(AGRN):c.5563+12A>G rs757938137
NM_198576.4(AGRN):c.5563+16G>C rs1645295857
NM_198576.4(AGRN):c.5563+9G>A rs1157313110
NM_198576.4(AGRN):c.5564-13G>T
NM_198576.4(AGRN):c.5583G>A (p.Ala1861=)
NM_198576.4(AGRN):c.5592G>C (p.Val1864=)
NM_198576.4(AGRN):c.5614C>A (p.Arg1872=)
NM_198576.4(AGRN):c.5616G>A (p.Arg1872=)
NM_198576.4(AGRN):c.5637C>T (p.Asn1879=)
NM_198576.4(AGRN):c.564G>A (p.Glu188=) rs1412665148
NM_198576.4(AGRN):c.5651+16C>T
NM_198576.4(AGRN):c.5652-13C>G
NM_198576.4(AGRN):c.5652-14C>G rs760795854
NM_198576.4(AGRN):c.5652-16G>T
NM_198576.4(AGRN):c.5652-16_5652-12dup
NM_198576.4(AGRN):c.5652-17T>C rs2100699254
NM_198576.4(AGRN):c.5652-19C>T
NM_198576.4(AGRN):c.5652-4C>G rs752622706
NM_198576.4(AGRN):c.5685G>A (p.Leu1895=) rs1570259187
NM_198576.4(AGRN):c.5688C>T (p.Ser1896=) rs998402421
NM_198576.4(AGRN):c.5694C>T (p.Arg1898=)
NM_198576.4(AGRN):c.5706G>A (p.Thr1902=)
NM_198576.4(AGRN):c.570G>A (p.Pro190=)
NM_198576.4(AGRN):c.5760A>G (p.Ala1920=)
NM_198576.4(AGRN):c.5820G>T (p.Val1940=)
NM_198576.4(AGRN):c.5835G>T (p.Val1945=)
NM_198576.4(AGRN):c.5868G>A (p.Val1956=)
NM_198576.4(AGRN):c.5876+13C>A
NM_198576.4(AGRN):c.5876+13C>T
NM_198576.4(AGRN):c.5876+15del rs754506003
NM_198576.4(AGRN):c.5877-10G>T rs1280841796
NM_198576.4(AGRN):c.5877-11dup
NM_198576.4(AGRN):c.5877-17C>G
NM_198576.4(AGRN):c.5877-18C>T
NM_198576.4(AGRN):c.5877-19C>T rs1397093198
NM_198576.4(AGRN):c.5883G>A (p.Gln1961=) rs1210257970
NM_198576.4(AGRN):c.588C>G (p.Val196=)
NM_198576.4(AGRN):c.5901G>A (p.Gln1967=)
NM_198576.4(AGRN):c.5937G>A (p.Pro1979=) rs147367021
NM_198576.4(AGRN):c.5943C>T (p.Gly1981=)
NM_198576.4(AGRN):c.5980+14G>A rs1347143869
NM_198576.4(AGRN):c.5981-16A>G rs2100703621
NM_198576.4(AGRN):c.5985C>G (p.Gly1995=) rs956106393
NM_198576.4(AGRN):c.6006C>T (p.Gly2002=)
NM_198576.4(AGRN):c.603G>C (p.Pro201=) rs113184997
NM_198576.4(AGRN):c.603G>T (p.Pro201=) rs113184997
NM_198576.4(AGRN):c.6048C>T (p.Cys2016=)
NM_198576.4(AGRN):c.6054G>T (p.Arg2018=) rs754185719
NM_198576.4(AGRN):c.6078G>A (p.Pro2026=)
NM_198576.4(AGRN):c.6081G>A (p.Leu2027=)
NM_198576.4(AGRN):c.6090G>A (p.Leu2030=)
NM_198576.4(AGRN):c.6099C>T (p.Ala2033=)
NM_198576.4(AGRN):c.6115C>T (p.Leu2039=)
NM_198576.4(AGRN):c.6117G>A (p.Leu2039=)
NM_198576.4(AGRN):c.6129C>T (p.Pro2043=)
NM_198576.4(AGRN):c.636G>A (p.Ser212=)
NM_198576.4(AGRN):c.63G>C (p.Ala21=) rs1293740544
NM_198576.4(AGRN):c.63G>T (p.Ala21=)
NM_198576.4(AGRN):c.642C>T (p.Ala214=)
NM_198576.4(AGRN):c.678G>A (p.Ala226=)
NM_198576.4(AGRN):c.696C>T (p.Arg232=)
NM_198576.4(AGRN):c.706C>T (p.Leu236=) rs2100630284
NM_198576.4(AGRN):c.711C>G (p.Leu237=)
NM_198576.4(AGRN):c.717C>G (p.Arg239=)
NM_198576.4(AGRN):c.723G>A (p.Pro241=)
NM_198576.4(AGRN):c.727+11C>T
NM_198576.4(AGRN):c.727+16_727+33del
NM_198576.4(AGRN):c.727+19G>C
NM_198576.4(AGRN):c.727+20T>A
NM_198576.4(AGRN):c.733C>A (p.Arg245=) rs750017108
NM_198576.4(AGRN):c.741C>T (p.Pro247=) rs1401707372
NM_198576.4(AGRN):c.75C>G (p.Pro25=)
NM_198576.4(AGRN):c.792C>T (p.Asp264=)
NM_198576.4(AGRN):c.795G>A (p.Gly265=)
NM_198576.4(AGRN):c.804C>A (p.Ala268=) rs113789806
NM_198576.4(AGRN):c.807G>C (p.Ser269=) rs746098476
NM_198576.4(AGRN):c.81C>G (p.Ala27=)
NM_198576.4(AGRN):c.825C>G (p.Thr275=) rs2100633242
NM_198576.4(AGRN):c.852C>T (p.Val284=)
NM_198576.4(AGRN):c.855C>T (p.Cys285=)
NM_198576.4(AGRN):c.864C>T (p.Asp288=) rs1401768737
NM_198576.4(AGRN):c.885G>A (p.Glu295=) rs765834882
NM_198576.4(AGRN):c.891G>A (p.Gln297=) rs1570193830
NM_198576.4(AGRN):c.918G>A (p.Gln306=)
NM_198576.4(AGRN):c.93C>T (p.Cys31=) rs1557679927
NM_198576.4(AGRN):c.952+16G>A rs2100634035
NM_198576.4(AGRN):c.952+7G>T
NM_198576.4(AGRN):c.953-12C>T
NM_198576.4(AGRN):c.954C>T (p.Asp318=)
NM_198576.4(AGRN):c.963G>A (p.Gln321=)
NM_198576.4(AGRN):c.972C>T (p.Leu324=)

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