NM_005592.4(MUSK):c.1586+26T>C
|
rs484010
|
0.94561
|
NM_005592.4(MUSK):c.402G>A (p.Glu134=)
|
rs10980531
|
0.16445
|
NM_005592.4(MUSK):c.537C>T (p.Asn179=)
|
rs41279051
|
0.13243
|
NM_005592.4(MUSK):c.475A>G (p.Ser159Gly)
|
rs35176182
|
0.12204
|
NM_005592.4(MUSK):c.1239G>A (p.Met413Ile)
|
rs2274419
|
0.09566
|
NM_005592.4(MUSK):c.207-20T>C
|
rs71501643
|
0.04718
|
NM_005592.4(MUSK):c.225C>T (p.Tyr75=)
|
rs56130155
|
0.02312
|
NM_005592.4(MUSK):c.299C>T (p.Thr100Met)
|
rs35142681
|
0.02176
|
NM_005592.4(MUSK):c.1991A>G (p.Asn664Ser)
|
rs55963442
|
0.00777
|
NM_005592.4(MUSK):c.1189T>C (p.Tyr397His)
|
rs79843573
|
0.00659
|
NM_005592.4(MUSK):c.398T>C (p.Ile133Thr)
|
rs55980069
|
0.00399
|
NM_005592.4(MUSK):c.320G>A (p.Gly107Glu)
|
rs55786136
|
0.00337
|
NM_005592.4(MUSK):c.80-8C>T
|
rs199705752
|
0.00301
|
NM_005592.4(MUSK):c.1062G>A (p.Thr354=)
|
rs139945437
|
0.00271
|
NM_005592.4(MUSK):c.1931T>C (p.Val644Ala)
|
rs41279055
|
0.00255
|
NM_005592.4(MUSK):c.2202C>T (p.Gly734=)
|
rs143701488
|
0.00217
|
NM_005592.4(MUSK):c.666T>C (p.Asn222=)
|
rs56044404
|
0.00208
|
NM_005592.4(MUSK):c.914-14T>G
|
rs146206123
|
0.00207
|
NM_005592.4(MUSK):c.79+11G>A
|
rs139516442
|
0.00138
|
NM_005592.4(MUSK):c.486+7G>C
|
rs187497836
|
0.00128
|
NM_005592.4(MUSK):c.1361-12T>C
|
rs115337040
|
0.00125
|
NM_005592.4(MUSK):c.665A>G (p.Asn222Ser)
|
rs55826142
|
0.00116
|
NM_005592.4(MUSK):c.1941C>T (p.Val647=)
|
rs200312379
|
0.00108
|
NM_005592.4(MUSK):c.1683G>A (p.Leu561=)
|
rs192173278
|
0.00105
|
NM_005592.4(MUSK):c.1026G>A (p.Ala342=)
|
rs200434321
|
0.00098
|
NM_005592.4(MUSK):c.358+20G>A
|
rs144807641
|
0.00089
|
NM_005592.4(MUSK):c.1779-7C>T
|
rs114362384
|
0.00072
|
NM_005592.4(MUSK):c.1719T>C (p.Asn573=)
|
rs373118888
|
0.00064
|
NM_005592.4(MUSK):c.2393A>G (p.Tyr798Cys)
|
rs188840021
|
0.00049
|
NM_005592.4(MUSK):c.1025C>T (p.Ala342Val)
|
rs375762569
|
0.00044
|
NM_005592.4(MUSK):c.1057C>A (p.His353Asn)
|
rs201791900
|
0.00043
|
NM_005592.4(MUSK):c.2203G>A (p.Glu735Lys)
|
rs138418494
|
0.00040
|
NM_005592.4(MUSK):c.1928-4C>A
|
rs375406874
|
0.00038
|
NM_005592.4(MUSK):c.2082C>A (p.Pro694=)
|
rs201616041
|
0.00035
|
NM_005592.4(MUSK):c.300G>A (p.Thr100=)
|
rs180928221
|
0.00034
|
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_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_005592.4(MUSK):c.2331C>T (p.Asn777=)
|
rs56394142
|
0.00025
|
NM_005592.4(MUSK):c.1099C>T (p.Arg367Trp)
|
rs201014623
|
0.00023
|
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_005592.4(MUSK):c.2368G>A (p.Val790Met)
|
rs199476083
|
0.00018
|
NM_005592.4(MUSK):c.2484C>T (p.Pro828=)
|
rs779401827
|
0.00015
|
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.680C>A (p.Ser227Tyr)
|
rs374657556
|
0.00014
|
NM_005592.4(MUSK):c.776A>G (p.Glu259Gly)
|
rs370071178
|
0.00014
|
NM_005592.4(MUSK):c.1806T>G (p.Pro602=)
|
rs374078491
|
0.00013
|
NM_005592.4(MUSK):c.1516A>G (p.Ile506Val)
|
rs191581729
|
0.00011
|
NM_005592.4(MUSK):c.198T>C (p.Ile66=)
|
rs567402281
|
0.00011
|
NM_005592.4(MUSK):c.1061C>T (p.Thr354Met)
|
rs200064775
|
0.00010
|
NM_005592.4(MUSK):c.979G>A (p.Ala327Thr)
|
rs776201930
|
0.00010
|
NM_005592.4(MUSK):c.1689C>G (p.Pro563=)
|
rs376052538
|
0.00009
|
NM_005592.4(MUSK):c.2520C>A (p.Ser840Arg)
|
rs768074747
|
0.00009
|
NM_005592.4(MUSK):c.2532A>G (p.Ala844=)
|
rs193214210
|
0.00009
|
NM_005592.4(MUSK):c.312T>C (p.Gly104=)
|
rs56181115
|
0.00009
|
NM_005592.4(MUSK):c.1778+13A>G
|
rs371275445
|
0.00008
|
NM_005592.4(MUSK):c.1942G>A (p.Gly648Arg)
|
rs201291910
|
0.00008
|
NM_005592.4(MUSK):c.2287G>A (p.Ala763Thr)
|
rs199507468
|
0.00008
|
NM_005592.4(MUSK):c.1245G>C (p.Glu415Asp)
|
rs558259191
|
0.00007
|
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_005592.4(MUSK):c.929A>C (p.Gln310Pro)
|
rs201804790
|
0.00006
|
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.17A>G (p.Asn6Ser)
|
rs747203404
|
0.00005
|
NM_005592.4(MUSK):c.1847C>T (p.Ser616Leu)
|
rs181652070
|
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_005592.4(MUSK):c.1100G>A (p.Arg367Gln)
|
rs1038479586
|
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.207-5T>C
|
rs779359576
|
0.00004
|
NM_005592.4(MUSK):c.2098G>A (p.Ala700Thr)
|
rs547450130
|
0.00004
|
NM_005592.4(MUSK):c.2283C>T (p.Asn761=)
|
rs777419932
|
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.2539C>A (p.Pro847Thr)
|
rs760757288
|
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.40dup (p.Thr14fs)
|
rs863223335
|
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_005592.4(MUSK):c.647G>A (p.Arg216Gln)
|
rs188464904
|
0.00004
|
NM_005592.4(MUSK):c.79+2T>G
|
rs200783529
|
0.00004
|
NM_005592.4(MUSK):c.916T>C (p.Trp306Arg)
|
rs1319203200
|
0.00004
|
NM_005592.4(MUSK):c.1128C>A (p.Asn376Lys)
|
rs773285595
|
0.00003
|
NM_005592.4(MUSK):c.1277T>C (p.Met426Thr)
|
rs368044285
|
0.00003
|
NM_005592.4(MUSK):c.1385-3C>T
|
rs775863015
|
0.00003
|
NM_005592.4(MUSK):c.1583A>C (p.Lys528Thr)
|
rs776545636
|
0.00003
|
NM_005592.4(MUSK):c.2111G>A (p.Cys704Tyr)
|
rs577931355
|
0.00003
|
NM_005592.4(MUSK):c.2300G>A (p.Arg767His)
|
rs370079610
|
0.00003
|
NM_005592.4(MUSK):c.230T>C (p.Ile77Thr)
|
rs547322569
|
0.00003
|
NM_005592.4(MUSK):c.2406C>T (p.Pro802=)
|
rs1444464544
|
0.00003
|
NM_005592.4(MUSK):c.468G>C (p.Lys156Asn)
|
rs187347916
|
0.00003
|
NM_005592.4(MUSK):c.754-6T>A
|
rs762500701
|
0.00003
|
NM_005592.4(MUSK):c.1014C>A (p.Asn338Lys)
|
rs373175897
|
0.00002
|
NM_005592.4(MUSK):c.1148G>T (p.Ser383Ile)
|
rs571312240
|
0.00002
|
NM_005592.4(MUSK):c.1230G>C (p.Trp410Cys)
|
rs751972431
|
0.00002
|
NM_005592.4(MUSK):c.1257A>G (p.Arg419=)
|
rs550568354
|
0.00002
|
NM_005592.4(MUSK):c.1363T>G (p.Tyr455Asp)
|
rs369240171
|
0.00002
|
NM_005592.4(MUSK):c.1400C>T (p.Thr467Met)
|
rs777107917
|
0.00002
|
NM_005592.4(MUSK):c.1657A>G (p.Met553Val)
|
rs753213086
|
0.00002
|
NM_005592.4(MUSK):c.1716G>A (p.Arg572=)
|
rs747237685
|
0.00002
|
NM_005592.4(MUSK):c.1724T>C (p.Ile575Thr)
|
rs751889864
|
0.00002
|
NM_005592.4(MUSK):c.1798T>A (p.Tyr600Asn)
|
rs147562871
|
0.00002
|
NM_005592.4(MUSK):c.1799A>G (p.Tyr600Cys)
|
rs760793449
|
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.2014C>T (p.Pro672Ser)
|
rs779042240
|
0.00002
|
NM_005592.4(MUSK):c.2077G>C (p.Gly693Arg)
|
rs1216581384
|
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.2447G>A (p.Arg816Gln)
|
rs764486887
|
0.00002
|
NM_005592.4(MUSK):c.2506C>T (p.Arg836Cys)
|
rs769657813
|
0.00002
|
NM_005592.4(MUSK):c.2561G>A (p.Arg854Gln)
|
rs754275653
|
0.00002
|
NM_005592.4(MUSK):c.2572C>T (p.Arg858Cys)
|
rs200450921
|
0.00002
|
NM_005592.4(MUSK):c.2599G>T (p.Val867Leu)
|
rs370094071
|
0.00002
|
NM_005592.4(MUSK):c.359-19A>G
|
rs751238962
|
0.00002
|
NM_005592.4(MUSK):c.373C>T (p.Arg125Cys)
|
rs371157090
|
0.00002
|
NM_005592.4(MUSK):c.481C>T (p.Leu161Phe)
|
rs1311636142
|
0.00002
|
NM_005592.4(MUSK):c.667G>A (p.Val223Ile)
|
rs774463260
|
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.857A>G (p.Asn286Ser)
|
rs747154421
|
0.00002
|
NM_005592.4(MUSK):c.978T>C (p.Asn326=)
|
rs563391603
|
0.00002
|
NM_005592.4(MUSK):c.1063G>A (p.Ala355Thr)
|
rs758777519
|
0.00001
|
NM_005592.4(MUSK):c.1102C>T (p.Pro368Ser)
|
rs768323977
|
0.00001
|
NM_005592.4(MUSK):c.1119G>T (p.Leu373Phe)
|
rs747717789
|
0.00001
|
NM_005592.4(MUSK):c.1159G>T (p.Val387Leu)
|
rs770907001
|
0.00001
|
NM_005592.4(MUSK):c.1273G>A (p.Glu425Lys)
|
rs745722798
|
0.00001
|
NM_005592.4(MUSK):c.1279C>G (p.His427Asp)
|
rs751266636
|
0.00001
|
NM_005592.4(MUSK):c.1291G>A (p.Val431Met)
|
rs372013406
|
0.00001
|
NM_005592.4(MUSK):c.1329C>T (p.Asp443=)
|
rs1174184253
|
0.00001
|
NM_005592.4(MUSK):c.133G>C (p.Ala45Pro)
|
rs763800237
|
0.00001
|
NM_005592.4(MUSK):c.1360+6dup
|
rs1329670157
|
0.00001
|
NM_005592.4(MUSK):c.1360G>A (p.Asp454Asn)
|
rs202239254
|
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.1465T>C (p.Ser489Pro)
|
rs1161905783
|
0.00001
|
NM_005592.4(MUSK):c.1512T>C (p.Phe504=)
|
rs374722867
|
0.00001
|
NM_005592.4(MUSK):c.1541C>T (p.Thr514Ile)
|
rs1467052958
|
0.00001
|
NM_005592.4(MUSK):c.1556G>A (p.Arg519Gln)
|
rs773818596
|
0.00001
|
NM_005592.4(MUSK):c.1650C>T (p.Pro550=)
|
rs2077842363
|
0.00001
|
NM_005592.4(MUSK):c.1744G>A (p.Gly582Arg)
|
rs202126269
|
0.00001
|
NM_005592.4(MUSK):c.1754C>T (p.Ala585Val)
|
rs953823198
|
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.1813A>G (p.Met605Val)
|
rs758777089
|
0.00001
|
NM_005592.4(MUSK):c.1895A>T (p.Glu632Val)
|
rs769807910
|
0.00001
|
NM_005592.4(MUSK):c.1915G>A (p.Val639Met)
|
rs766810675
|
0.00001
|
NM_005592.4(MUSK):c.1925T>C (p.Leu642Ser)
|
rs751851038
|
0.00001
|
NM_005592.4(MUSK):c.1969T>C (p.Tyr657His)
|
rs760452360
|
0.00001
|
NM_005592.4(MUSK):c.2002C>T (p.Arg668Cys)
|
rs754730206
|
0.00001
|
NM_005592.4(MUSK):c.206+5G>A
|
rs767539226
|
0.00001
|
NM_005592.4(MUSK):c.2065G>T (p.Val689Phe)
|
rs1464125081
|
0.00001
|
NM_005592.4(MUSK):c.2085A>C (p.Pro695=)
|
rs772759899
|
0.00001
|
NM_005592.4(MUSK):c.2140G>C (p.Ala714Pro)
|
rs1377981904
|
0.00001
|
NM_005592.4(MUSK):c.2156G>A (p.Arg719His)
|
rs545173798
|
0.00001
|
NM_005592.4(MUSK):c.2165T>C (p.Val722Ala)
|
rs1238400476
|
0.00001
|
NM_005592.4(MUSK):c.2170C>T (p.Arg724Ter)
|
rs1255531873
|
0.00001
|
NM_005592.4(MUSK):c.220C>T (p.Arg74Trp)
|
rs1370203787
|
0.00001
|
NM_005592.4(MUSK):c.221G>A (p.Arg74Gln)
|
rs758118087
|
0.00001
|
NM_005592.4(MUSK):c.2222T>C (p.Ile741Thr)
|
rs752514384
|
0.00001
|
NM_005592.4(MUSK):c.2332C>T (p.Arg778Cys)
|
rs750833487
|
0.00001
|
NM_005592.4(MUSK):c.2333G>A (p.Arg778His)
|
rs751712655
|
0.00001
|
NM_005592.4(MUSK):c.233G>A (p.Arg78Gln)
|
rs776815006
|
0.00001
|
NM_005592.4(MUSK):c.2346G>T (p.Glu782Asp)
|
rs34614566
|
0.00001
|
NM_005592.4(MUSK):c.2397C>T (p.Gly799=)
|
rs775509048
|
0.00001
|
NM_005592.4(MUSK):c.2408A>G (p.Tyr803Cys)
|
rs376837791
|
0.00001
|
NM_005592.4(MUSK):c.242G>C (p.Gly81Ala)
|
rs1644805907
|
0.00001
|
NM_005592.4(MUSK):c.2430G>C (p.Glu810Asp)
|
rs1455145377
|
0.00001
|
NM_005592.4(MUSK):c.2433C>T (p.Val811=)
|
rs761652640
|
0.00001
|
NM_005592.4(MUSK):c.2446C>T (p.Arg816Ter)
|
rs1487680236
|
0.00001
|
NM_005592.4(MUSK):c.2507G>A (p.Arg836His)
|
rs371689428
|
0.00001
|
NM_005592.4(MUSK):c.2579G>T (p.Cys860Phe)
|
rs748071334
|
0.00001
|
NM_005592.4(MUSK):c.2581G>A (p.Glu861Lys)
|
rs1588054854
|
0.00001
|
NM_005592.4(MUSK):c.2600T>C (p.Val867Ala)
|
rs779710805
|
0.00001
|
NM_005592.4(MUSK):c.2608T>C (p.Ter870Gln)
|
rs201134491
|
0.00001
|
NM_005592.4(MUSK):c.296G>T (p.Cys99Phe)
|
rs760781844
|
0.00001
|
NM_005592.4(MUSK):c.308A>G (p.Asn103Ser)
|
rs551423795
|
0.00001
|
NM_005592.4(MUSK):c.315G>A (p.Val105=)
|
rs751133130
|
0.00001
|
NM_005592.4(MUSK):c.359-2dup
|
rs1185775471
|
0.00001
|
NM_005592.4(MUSK):c.430A>G (p.Thr144Ala)
|
rs1210600769
|
0.00001
|
NM_005592.4(MUSK):c.43C>A (p.Leu15Met)
|
rs746254848
|
0.00001
|
NM_005592.4(MUSK):c.441T>A (p.Asn147Lys)
|
rs1476034971
|
0.00001
|
NM_005592.4(MUSK):c.467A>T (p.Lys156Met)
|
rs1048310820
|
0.00001
|
NM_005592.4(MUSK):c.486+6T>G
|
rs763532251
|
0.00001
|
NM_005592.4(MUSK):c.496C>T (p.Arg166Ter)
|
rs763656507
|
0.00001
|
NM_005592.4(MUSK):c.538G>A (p.Val180Ile)
|
rs1468498564
|
0.00001
|
NM_005592.4(MUSK):c.557G>C (p.Gly186Ala)
|
rs373304727
|
0.00001
|
NM_005592.4(MUSK):c.57C>T (p.Ser19=)
|
rs750615817
|
0.00001
|
NM_005592.4(MUSK):c.58G>A (p.Gly20Arg)
|
rs758427621
|
0.00001
|
NM_005592.4(MUSK):c.593C>T (p.Thr198Ile)
|
rs561525761
|
0.00001
|
NM_005592.4(MUSK):c.635C>T (p.Ala212Val)
|
rs756953369
|
0.00001
|
NM_005592.4(MUSK):c.697T>C (p.Cys233Arg)
|
rs376911820
|
0.00001
|
NM_005592.4(MUSK):c.701C>T (p.Thr234Ile)
|
rs1170201682
|
0.00001
|
NM_005592.4(MUSK):c.745G>A (p.Gly249Arg)
|
rs1372004765
|
0.00001
|
NM_005592.4(MUSK):c.788A>C (p.Asp263Ala)
|
rs1187474550
|
0.00001
|
NM_005592.4(MUSK):c.791G>A (p.Arg264Gln)
|
rs193019632
|
0.00001
|
NM_005592.4(MUSK):c.872A>G (p.Lys291Arg)
|
rs752641780
|
0.00001
|
NM_005592.4(MUSK):c.875T>G (p.Phe292Cys)
|
rs1416891382
|
0.00001
|
NM_005592.4(MUSK):c.951C>T (p.Cys317=)
|
rs1311522447
|
0.00001
|
NC_000009.11:g.(?_113431185)_(113459766_?)dup
|
|
|
NC_000009.11:g.(?_113431185)_(113550138_?)del
|
|
|
NC_000009.11:g.(?_113431213)_(113441760_?)del
|
|
|
NC_000009.11:g.(?_113444934)_(113449568_?)del
|
|
|
NC_000009.11:g.(?_113449377)_(113457830_?)del
|
|
|
NC_000009.11:g.(?_113496521)_(113524498_?)dup
|
|
|
NC_000009.11:g.(?_113509901)_(113538955_?)del
|
|
|
NC_000009.12:g.(?_110734231)_(110734395_?)del
|
|
|
NM_005592.4(MUSK):c.1005T>A (p.Val335=)
|
|
|
NM_005592.4(MUSK):c.1024G>A (p.Ala342Thr)
|
rs2077509392
|
|
NM_005592.4(MUSK):c.1036G>C (p.Glu346Gln)
|
|
|
NM_005592.4(MUSK):c.1038G>C (p.Glu346Asp)
|
rs764142979
|
|
NM_005592.4(MUSK):c.1044A>G (p.Gln348=)
|
|
|
NM_005592.4(MUSK):c.1052T>C (p.Leu351Pro)
|
|
|
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.1091_1092del (p.Pro364fs)
|
|
|
NM_005592.4(MUSK):c.1098C>T (p.Cys366=)
|
|
|
NM_005592.4(MUSK):c.1099C>G (p.Arg367Gly)
|
rs201014623
|
|
NM_005592.4(MUSK):c.1100G>C (p.Arg367Pro)
|
rs1038479586
|
|
NM_005592.4(MUSK):c.1114_1115delinsAA (p.Ala372Asn)
|
|
|
NM_005592.4(MUSK):c.112G>T (p.Asp38Tyr)
|
rs1412657094
|
|
NM_005592.4(MUSK):c.1131C>T (p.His377=)
|
|
|
NM_005592.4(MUSK):c.114T>A (p.Asp38Glu)
|
|
|
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.1184+2T>C
|
|
|
NM_005592.4(MUSK):c.1184G>T (p.Arg395Ile)
|
rs2131956652
|
|
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.1185-2A>G
|
|
|
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.119T>C (p.Leu40Ser)
|
|
|
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>A (p.Cys406Ter)
|
|
|
NM_005592.4(MUSK):c.1218C>T (p.Cys406=)
|
rs368395413
|
|
NM_005592.4(MUSK):c.1220C>T (p.Ala407Val)
|
|
|
NM_005592.4(MUSK):c.1224A>G (p.Lys408=)
|
rs1588025437
|
|
NM_005592.4(MUSK):c.1233G>A (p.Leu411=)
|
|
|
NM_005592.4(MUSK):c.1235T>C (p.Val412Ala)
|
|
|
NM_005592.4(MUSK):c.1238T>C (p.Met413Thr)
|
rs930182416
|
|
NM_005592.4(MUSK):c.1250C>T (p.Thr417Ile)
|
rs538655454
|
|
NM_005592.4(MUSK):c.1266C>T (p.Tyr422=)
|
|
|
NM_005592.4(MUSK):c.1277T>A (p.Met426Lys)
|
rs368044285
|
|
NM_005592.4(MUSK):c.1287G>C (p.Leu429=)
|
|
|
NM_005592.4(MUSK):c.1299_1300del (p.Cys434fs)
|
|
|
NM_005592.4(MUSK):c.129A>T (p.Glu43Asp)
|
rs2131656584
|
|
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.1324T>A (p.Trp442Arg)
|
|
|
NM_005592.4(MUSK):c.132G>A (p.Val44=)
|
|
|
NM_005592.4(MUSK):c.1339T>C (p.Cys447Arg)
|
|
|
NM_005592.4(MUSK):c.1343C>A (p.Ala448Asp)
|
|
|
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+1G>A
|
|
|
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+5G>A
|
rs536529195
|
|
NM_005592.4(MUSK):c.1384+9T>C
|
|
|
NM_005592.4(MUSK):c.1384del (p.Thr462fs)
|
|
|
NM_005592.4(MUSK):c.1385-12C>A
|
|
|
NM_005592.4(MUSK):c.1386A>G (p.Thr462=)
|
|
|
NM_005592.4(MUSK):c.13G>A (p.Val5Ile)
|
rs765874906
|
|
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.1420G>A (p.Asp474Asn)
|
|
|
NM_005592.4(MUSK):c.1434G>A (p.Leu478=)
|
|
|
NM_005592.4(MUSK):c.1440CTC[2] (p.Ser485del)
|
|
|
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.1462G>T (p.Val488Phe)
|
|
|
NM_005592.4(MUSK):c.1466C>G (p.Ser489Ter)
|
|
|
NM_005592.4(MUSK):c.1472C>T (p.Thr491Ile)
|
rs2132023110
|
|
NM_005592.4(MUSK):c.1473A>G (p.Thr491=)
|
|
|
NM_005592.4(MUSK):c.147T>C (p.Cys49=)
|
|
|
NM_005592.4(MUSK):c.1490T>A (p.Ile497Lys)
|
|
|
NM_005592.4(MUSK):c.1503_1504insACC (p.Met501_Ser502insThr)
|
rs886043719
|
|
NM_005592.4(MUSK):c.1540A>C (p.Thr514Pro)
|
|
|
NM_005592.4(MUSK):c.1543C>G (p.Leu515Val)
|
rs1554755295
|
|
NM_005592.4(MUSK):c.1545C>T (p.Leu515=)
|
rs868435163
|
|
NM_005592.4(MUSK):c.1555C>T (p.Arg519Ter)
|
|
|
NM_005592.4(MUSK):c.1556GAA[2] (p.Arg521del)
|
rs774582687
|
|
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+1G>A
|
|
|
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.1592C>G (p.Ser531Ter)
|
|
|
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.1606C>G (p.Leu536Val)
|
|
|
NM_005592.4(MUSK):c.1611C>T (p.Thr537=)
|
|
|
NM_005592.4(MUSK):c.1613C>G (p.Thr538Arg)
|
rs928134595
|
|
NM_005592.4(MUSK):c.1615C>T (p.Leu539=)
|
|
|
NM_005592.4(MUSK):c.1623T>C (p.Ser541=)
|
|
|
NM_005592.4(MUSK):c.1626del (p.Glu542fs)
|
rs2077841802
|
|
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.166dup (p.Gln56fs)
|
|
|
NM_005592.4(MUSK):c.1673C>G (p.Pro558Arg)
|
rs369745938
|
|
NM_005592.4(MUSK):c.1673C>T (p.Pro558Leu)
|
|
|
NM_005592.4(MUSK):c.1686C>A (p.Asn562Lys)
|
|
|
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.1706A>T (p.Glu569Val)
|
rs2077843836
|
|
NM_005592.4(MUSK):c.1707G>A (p.Glu569=)
|
|
|
NM_005592.4(MUSK):c.1711C>A (p.Pro571Thr)
|
|
|
NM_005592.4(MUSK):c.1722C>T (p.Asn574=)
|
|
|
NM_005592.4(MUSK):c.1734G>A (p.Val578=)
|
|
|
NM_005592.4(MUSK):c.1735A>T (p.Arg579Ter)
|
rs752798426
|
|
NM_005592.4(MUSK):c.1742T>A (p.Ile581Asn)
|
|
|
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.1751G>A (p.Gly584Glu)
|
|
|
NM_005592.4(MUSK):c.1753G>C (p.Ala585Pro)
|
rs779231840
|
|
NM_005592.4(MUSK):c.1778+18A>G
|
|
|
NM_005592.4(MUSK):c.1778+19A>C
|
|
|
NM_005592.4(MUSK):c.1778+1G>T
|
rs2132026515
|
|
NM_005592.4(MUSK):c.1778+25del
|
|
|
NM_005592.4(MUSK):c.1778+25dup
|
rs200937545
|
|
NM_005592.4(MUSK):c.1778+7T>C
|
rs1021982098
|
|
NM_005592.4(MUSK):c.1778G>C (p.Arg593Thr)
|
|
|
NM_005592.4(MUSK):c.1779-16T>C
|
|
|
NM_005592.4(MUSK):c.1779-20T>C
|
|
|
NM_005592.4(MUSK):c.1784C>G (p.Pro595Arg)
|
rs2077898016
|
|
NM_005592.4(MUSK):c.1788C>T (p.Gly596=)
|
|
|
NM_005592.4(MUSK):c.1789T>C (p.Leu597=)
|
|
|
NM_005592.4(MUSK):c.1795C>T (p.Pro599Ser)
|
rs2077898173
|
|
NM_005592.4(MUSK):c.1804C>T (p.Pro602Ser)
|
rs565780053
|
|
NM_005592.4(MUSK):c.1813A>T (p.Met605Leu)
|
rs758777089
|
|
NM_005592.4(MUSK):c.1815G>A (p.Met605Ile)
|
rs766640370
|
|
NM_005592.4(MUSK):c.1818G>A (p.Val606=)
|
rs2132034695
|
|
NM_005592.4(MUSK):c.1826del (p.Lys609fs)
|
|
|
NM_005592.4(MUSK):c.1833C>A (p.Leu611=)
|
|
|
NM_005592.4(MUSK):c.1840del (p.Glu614fs)
|
|
|
NM_005592.4(MUSK):c.1841A>C (p.Glu614Ala)
|
|
|
NM_005592.4(MUSK):c.1847C>G (p.Ser616Trp)
|
rs181652070
|
|
NM_005592.4(MUSK):c.1848G>A (p.Ser616=)
|
|
|
NM_005592.4(MUSK):c.1853A>G (p.Asp618Gly)
|
|
|
NM_005592.4(MUSK):c.1856T>C (p.Met619Thr)
|
rs755642035
|
|
NM_005592.4(MUSK):c.1865A>T (p.Asp622Val)
|
rs1292312575
|
|
NM_005592.4(MUSK):c.1874G>A (p.Arg625Lys)
|
rs2077900685
|
|
NM_005592.4(MUSK):c.1896A>T (p.Glu632Asp)
|
|
|
NM_005592.4(MUSK):c.1898T>C (p.Phe633Ser)
|
rs1161007370
|
|
NM_005592.4(MUSK):c.1906C>A (p.Pro636Thr)
|
|
|
NM_005592.4(MUSK):c.1912A>C (p.Ile638Leu)
|
|
|
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.1927+9dup
|
rs555725730
|
|
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.1930G>C (p.Val644Leu)
|
rs2132065378
|
|
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.2010del (p.Met670fs)
|
|
|
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.2021_2022dup (p.Val675fs)
|
|
|
NM_005592.4(MUSK):c.2022C>T (p.Thr674=)
|
rs772683882
|
|
NM_005592.4(MUSK):c.2023G>A (p.Val675Met)
|
|
|
NM_005592.4(MUSK):c.2031C>T (p.Ser677=)
|
|
|
NM_005592.4(MUSK):c.2034_2035del (p.His680fs)
|
|
|
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.206+2T>C
|
|
|
NM_005592.4(MUSK):c.2065G>A (p.Val689Ile)
|
|
|
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.207-1G>A
|
|
|
NM_005592.4(MUSK):c.2079G>C (p.Gly693=)
|
|
|
NM_005592.4(MUSK):c.207A>T (p.Lys69Asn)
|
rs2076206381
|
|
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.2090T>A (p.Leu697His)
|
|
|
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.2122C>T (p.Gln708Ter)
|
|
|
NM_005592.4(MUSK):c.2125G>A (p.Val709Met)
|
rs2132066572
|
|
NM_005592.4(MUSK):c.2132C>G (p.Ala711Gly)
|
rs758510906
|
|
NM_005592.4(MUSK):c.2136C>T (p.Gly712=)
|
|
|
NM_005592.4(MUSK):c.2155C>T (p.Arg719Cys)
|
rs769211968
|
|
NM_005592.4(MUSK):c.218C>T (p.Thr73Ile)
|
rs750101214
|
|
NM_005592.4(MUSK):c.2192del (p.Cys731fs)
|
|
|
NM_005592.4(MUSK):c.2196G>A (p.Leu732=)
|
|
|
NM_005592.4(MUSK):c.2208C>G (p.Asn736Lys)
|
rs770373727
|
|
NM_005592.4(MUSK):c.2208C>T (p.Asn736=)
|
|
|
NM_005592.4(MUSK):c.2213T>C (p.Val738Ala)
|
|
|
NM_005592.4(MUSK):c.2226C>T (p.Ala742=)
|
|
|
NM_005592.4(MUSK):c.222G>C (p.Arg74=)
|
|
|
NM_005592.4(MUSK):c.2249T>A (p.Ile750Asn)
|
rs781506865
|
|
NM_005592.4(MUSK):c.2256A>T (p.Ser752=)
|
|
|
NM_005592.4(MUSK):c.2260G>A (p.Asp754Asn)
|
rs2078078707
|
|
NM_005592.4(MUSK):c.2262C>G (p.Asp754Glu)
|
|
|
NM_005592.4(MUSK):c.2263_2268del (p.Tyr755_Tyr756del)
|
rs1588054209
|
|
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.2291T>C (p.Ile764Thr)
|
rs1554757211
|
|
NM_005592.4(MUSK):c.2292C>A (p.Ile764=)
|
|
|
NM_005592.4(MUSK):c.2292C>T (p.Ile764=)
|
rs560916681
|
|
NM_005592.4(MUSK):c.2314G>A (p.Glu772Lys)
|
rs2132067786
|
|
NM_005592.4(MUSK):c.232C>A (p.Arg78=)
|
rs747987063
|
|
NM_005592.4(MUSK):c.234G>A (p.Arg78=)
|
|
|
NM_005592.4(MUSK):c.2350G>A (p.Asp784Asn)
|
rs2132067949
|
|
NM_005592.4(MUSK):c.2352T>A (p.Asp784Glu)
|
|
|
NM_005592.4(MUSK):c.2355G>T (p.Val785=)
|
|
|
NM_005592.4(MUSK):c.2357G>A (p.Trp786Ter)
|
rs1554757237
|
|
NM_005592.4(MUSK):c.2358G>A (p.Trp786Ter)
|
|
|
NM_005592.4(MUSK):c.2365G>A (p.Gly789Ser)
|
rs1057518966
|
|
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.2411A>G (p.Tyr804Cys)
|
rs533353279
|
|
NM_005592.4(MUSK):c.2423A>G (p.His808Arg)
|
rs2078084308
|
|
NM_005592.4(MUSK):c.243G>T (p.Gly81=)
|
rs1587897093
|
|
NM_005592.4(MUSK):c.2440T>G (p.Tyr814Asp)
|
rs2078084758
|
|
NM_005592.4(MUSK):c.2443G>A (p.Val815Met)
|
rs551520537
|
|
NM_005592.4(MUSK):c.2443G>T (p.Val815Leu)
|
rs551520537
|
|
NM_005592.4(MUSK):c.2447G>T (p.Arg816Leu)
|
|
|
NM_005592.4(MUSK):c.2451T>C (p.Asp817=)
|
|
|
NM_005592.4(MUSK):c.2457C>T (p.Asn819=)
|
|
|
NM_005592.4(MUSK):c.2461C>T (p.Leu821Phe)
|
rs2078085499
|
|
NM_005592.4(MUSK):c.2462T>C (p.Leu821Pro)
|
rs2078085552
|
|
NM_005592.4(MUSK):c.2463C>T (p.Leu821=)
|
|
|
NM_005592.4(MUSK):c.2481C>T (p.Cys827=)
|
|
|
NM_005592.4(MUSK):c.2485G>A (p.Val829Met)
|
rs578430
|
|
NM_005592.4(MUSK):c.2485G>T (p.Val829Leu)
|
rs578430
|
|
NM_005592.4(MUSK):c.2493G>A (p.Leu831=)
|
|
|
NM_005592.4(MUSK):c.2496C>T (p.Tyr832=)
|
|
|
NM_005592.4(MUSK):c.2501T>C (p.Leu834Pro)
|
rs2078086619
|
|
NM_005592.4(MUSK):c.2511A>G (p.Leu837=)
|
rs1447190013
|
|
NM_005592.4(MUSK):c.2517G>C (p.Trp839Cys)
|
rs1011593420
|
|
NM_005592.4(MUSK):c.252C>G (p.Leu84=)
|
|
|
NM_005592.4(MUSK):c.253A>G (p.Thr85Ala)
|
rs2131669584
|
|
NM_005592.4(MUSK):c.255C>T (p.Thr85=)
|
|
|
NM_005592.4(MUSK):c.259C>G (p.Leu87Val)
|
rs1198739112
|
|
NM_005592.4(MUSK):c.263G>A (p.Ser88Asn)
|
|
|
NM_005592.4(MUSK):c.276T>C (p.Ser92=)
|
|
|
NM_005592.4(MUSK):c.282T>C (p.Asp94=)
|
|
|
NM_005592.4(MUSK):c.2T>C (p.Met1Thr)
|
|
|
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.31_34del (p.His11fs)
|
|
|
NM_005592.4(MUSK):c.33T>C (p.His11=)
|
|
|
NM_005592.4(MUSK):c.342C>A (p.Ala114=)
|
|
|
NM_005592.4(MUSK):c.348A>C (p.Gln116His)
|
rs2131670048
|
|
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>C (p.Lys120Asn)
|
rs1318631379
|
|
NM_005592.4(MUSK):c.360A>G (p.Lys120=)
|
|
|
NM_005592.4(MUSK):c.361C>A (p.Pro121Thr)
|
rs760483928
|
|
NM_005592.4(MUSK):c.361C>T (p.Pro121Ser)
|
|
|
NM_005592.4(MUSK):c.374G>A (p.Arg125His)
|
rs375737188
|
|
NM_005592.4(MUSK):c.374G>T (p.Arg125Leu)
|
rs375737188
|
|
NM_005592.4(MUSK):c.375T>C (p.Arg125=)
|
rs2131713591
|
|
NM_005592.4(MUSK):c.402_403delinsAA (p.Gly135Arg)
|
rs2076418979
|
|
NM_005592.4(MUSK):c.417C>G (p.Val139=)
|
|
|
NM_005592.4(MUSK):c.433A>G (p.Met145Val)
|
rs748144400
|
|
NM_005592.4(MUSK):c.444C>T (p.Pro148=)
|
|
|
NM_005592.4(MUSK):c.461G>A (p.Trp154Ter)
|
|
|
NM_005592.4(MUSK):c.471A>G (p.Gly157=)
|
|
|
NM_005592.4(MUSK):c.474_475delinsAC (p.Asp158_Ser159delinsGluArg)
|
rs1587917824
|
|
NM_005592.4(MUSK):c.479C>T (p.Pro160Leu)
|
rs1308383168
|
|
NM_005592.4(MUSK):c.484A>C (p.Arg162=)
|
|
|
NM_005592.4(MUSK):c.486+16G>A
|
|
|
NM_005592.4(MUSK):c.486+1G>C
|
rs1204788520
|
|
NM_005592.4(MUSK):c.486+22del
|
|
|
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.494C>T (p.Ser165Phe)
|
rs1349731741
|
|
NM_005592.4(MUSK):c.496C>A (p.Arg166=)
|
|
|
NM_005592.4(MUSK):c.503C>T (p.Ala168Val)
|
|
|
NM_005592.4(MUSK):c.509T>A (p.Leu170His)
|
rs1464415453
|
|
NM_005592.4(MUSK):c.513A>G (p.Glu171=)
|
|
|
NM_005592.4(MUSK):c.535A>T (p.Asn179Tyr)
|
rs1554738557
|
|
NM_005592.4(MUSK):c.545dup (p.Glu183fs)
|
|
|
NM_005592.4(MUSK):c.546G>C (p.Lys182Asn)
|
rs1207568075
|
|
NM_005592.4(MUSK):c.568T>C (p.Cys190Arg)
|
|
|
NM_005592.4(MUSK):c.573G>A (p.Val191=)
|
|
|
NM_005592.4(MUSK):c.581dup (p.Asn194fs)
|
rs1395885868
|
|
NM_005592.4(MUSK):c.582del (p.Asn194fs)
|
rs2131720596
|
|
NM_005592.4(MUSK):c.588C>T (p.Leu196=)
|
|
|
NM_005592.4(MUSK):c.589G>A (p.Gly197Arg)
|
rs768273510
|
|
NM_005592.4(MUSK):c.597A>G (p.Ala199=)
|
|
|
NM_005592.4(MUSK):c.600T>C (p.Tyr200=)
|
|
|
NM_005592.4(MUSK):c.601T>G (p.Ser201Ala)
|
|
|
NM_005592.4(MUSK):c.609G>A (p.Val203=)
|
rs762882154
|
|
NM_005592.4(MUSK):c.617T>A (p.Leu206Gln)
|
|
|
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.647G>T (p.Arg216Leu)
|
rs188464904
|
|
NM_005592.4(MUSK):c.648G>C (p.Arg216=)
|
|
|
NM_005592.4(MUSK):c.665A>T (p.Asn222Ile)
|
rs55826142
|
|
NM_005592.4(MUSK):c.674T>A (p.Phe225Tyr)
|
|
|
NM_005592.4(MUSK):c.675T>C (p.Phe225=)
|
|
|
NM_005592.4(MUSK):c.699T>C (p.Cys233=)
|
|
|
NM_005592.4(MUSK):c.703G>A (p.Ala235Thr)
|
|
|
NM_005592.4(MUSK):c.708A>G (p.Thr236=)
|
|
|
NM_005592.4(MUSK):c.721C>T (p.Pro241Ser)
|
rs1564253296
|
|
NM_005592.4(MUSK):c.726C>A (p.Thr242=)
|
|
|
NM_005592.4(MUSK):c.738T>A (p.Ile246=)
|
|
|
NM_005592.4(MUSK):c.741A>C (p.Glu247Asp)
|
rs2077002366
|
|
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+5G>A
|
rs2077002564
|
|
NM_005592.4(MUSK):c.753+8T>C
|
|
|
NM_005592.4(MUSK):c.754-1G>T
|
|
|
NM_005592.4(MUSK):c.754-2A>G
|
rs1587986079
|
|
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.757TCT[3] (p.Ser254dup)
|
rs1287375718
|
|
NM_005592.4(MUSK):c.759T>C (p.Ser253=)
|
|
|
NM_005592.4(MUSK):c.762T>A (p.Ser254=)
|
rs2077190189
|
|
NM_005592.4(MUSK):c.765G>A (p.Gly255=)
|
|
|
NM_005592.4(MUSK):c.768C>T (p.Ser256=)
|
|
|
NM_005592.4(MUSK):c.778A>T (p.Ser260Cys)
|
|
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NM_005592.4(MUSK):c.780T>C (p.Ser260=)
|
rs886063353
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NM_005592.4(MUSK):c.79+14A>G
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NM_005592.4(MUSK):c.79+15T>C
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NM_005592.4(MUSK):c.79+16C>T
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NM_005592.4(MUSK):c.79+17G>A
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NM_005592.4(MUSK):c.79+20T>C
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NM_005592.4(MUSK):c.79+7T>C
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NM_005592.4(MUSK):c.790C>A (p.Arg264=)
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NM_005592.4(MUSK):c.790C>T (p.Arg264Ter)
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NM_005592.4(MUSK):c.795G>A (p.Val265=)
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NM_005592.4(MUSK):c.7G>A (p.Glu3Lys)
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NM_005592.4(MUSK):c.80-15C>A
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NM_005592.4(MUSK):c.80-19A>T
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NM_005592.4(MUSK):c.80-7C>A
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NM_005592.4(MUSK):c.80-7_80-3del
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NM_005592.4(MUSK):c.80-9T>C
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NM_005592.4(MUSK):c.804A>C (p.Ser268=)
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NM_005592.4(MUSK):c.807A>G (p.Arg269=)
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NM_005592.4(MUSK):c.81_84del (p.Pro28fs)
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NM_005592.4(MUSK):c.831A>G (p.Pro277=)
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NM_005592.4(MUSK):c.83C>T (p.Pro28Leu)
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NM_005592.4(MUSK):c.843A>C (p.Thr281=)
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NM_005592.4(MUSK):c.845_848dup (p.Ile283fs)
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NM_005592.4(MUSK):c.848T>C (p.Ile283Thr)
|
rs2077193041
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NM_005592.4(MUSK):c.855C>G (p.Thr285=)
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NM_005592.4(MUSK):c.858T>C (p.Asn286=)
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NM_005592.4(MUSK):c.861G>A (p.Lys287=)
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NM_005592.4(MUSK):c.864T>C (p.His288=)
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NM_005592.4(MUSK):c.868del (p.Glu290fs)
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NM_005592.4(MUSK):c.879T>C (p.Ser293=)
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NM_005592.4(MUSK):c.882T>A (p.Thr294=)
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NM_005592.4(MUSK):c.899C>A (p.Thr300Asn)
|
rs1554749322
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NM_005592.4(MUSK):c.899C>T (p.Thr300Ile)
|
rs1554749322
|
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NM_005592.4(MUSK):c.900C>T (p.Thr300=)
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|
NM_005592.4(MUSK):c.909dup (p.Ala304fs)
|
rs2131877883
|
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NM_005592.4(MUSK):c.90C>T (p.Ile30=)
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NM_005592.4(MUSK):c.913+10C>T
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NM_005592.4(MUSK):c.913+11C>T
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NM_005592.4(MUSK):c.913+13T>C
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NM_005592.4(MUSK):c.913+2T>C
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NM_005592.4(MUSK):c.913+9C>T
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NM_005592.4(MUSK):c.914-10C>A
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NM_005592.4(MUSK):c.914-5A>G
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NM_005592.4(MUSK):c.916T>G (p.Trp306Gly)
|
rs1319203200
|
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NM_005592.4(MUSK):c.920+10T>C
|
rs781462535
|
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NM_005592.4(MUSK):c.920+11G>A
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NM_005592.4(MUSK):c.920+11_920+12del
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NM_005592.4(MUSK):c.920+1G>A
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NM_005592.4(MUSK):c.920+20del
|
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NM_005592.4(MUSK):c.920+25del
|
rs147974075
|
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NM_005592.4(MUSK):c.920+5G>C
|
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|
NM_005592.4(MUSK):c.920+9C>T
|
rs2131931808
|
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NM_005592.4(MUSK):c.921-18_921-16del
|
|
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NM_005592.4(MUSK):c.921-7C>T
|
rs2131955302
|
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NM_005592.4(MUSK):c.935A>T (p.Asp312Val)
|
rs1362784498
|
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NM_005592.4(MUSK):c.944_946delinsATA (p.Gly315_Tyr316delinsAspAsn)
|
rs2131955443
|
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NM_005592.4(MUSK):c.946T>C (p.Tyr316His)
|
rs757775674
|
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NM_005592.4(MUSK):c.952G>A (p.Ala318Thr)
|
|
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NM_005592.4(MUSK):c.954C>A (p.Ala318=)
|
rs968145791
|
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NM_005592.4(MUSK):c.954C>G (p.Ala318=)
|
rs968145791
|
|
NM_005592.4(MUSK):c.964G>A (p.Gly322Arg)
|
rs1449532775
|
|
NM_005592.4(MUSK):c.965G>C (p.Gly322Ala)
|
rs2131955587
|
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NM_005592.4(MUSK):c.990A>G (p.Ala330=)
|
rs1588014706
|
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