ClinVar Miner

List of variants in gene MUSK studied for congenital limb malformation

Included ClinVar conditions (335):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 660
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HGVS dbSNP gnomAD frequency
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)
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.790C>T (p.Arg264Ter)
NM_005592.4(MUSK):c.795G>A (p.Val265=)
NM_005592.4(MUSK):c.7G>A (p.Glu3Lys)
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.81_84del (p.Pro28fs)
NM_005592.4(MUSK):c.831A>G (p.Pro277=)
NM_005592.4(MUSK):c.83C>T (p.Pro28Leu)
NM_005592.4(MUSK):c.843A>C (p.Thr281=)
NM_005592.4(MUSK):c.845_848dup (p.Ile283fs)
NM_005592.4(MUSK):c.848T>C (p.Ile283Thr) rs2077193041
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.868del (p.Glu290fs)
NM_005592.4(MUSK):c.879T>C (p.Ser293=)
NM_005592.4(MUSK):c.882T>A (p.Thr294=)
NM_005592.4(MUSK):c.899C>A (p.Thr300Asn) rs1554749322
NM_005592.4(MUSK):c.899C>T (p.Thr300Ile) rs1554749322
NM_005592.4(MUSK):c.900C>T (p.Thr300=)
NM_005592.4(MUSK):c.909dup (p.Ala304fs) rs2131877883
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+2T>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.916T>G (p.Trp306Gly) rs1319203200
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+1G>A
NM_005592.4(MUSK):c.920+20del
NM_005592.4(MUSK):c.920+25del rs147974075
NM_005592.4(MUSK):c.920+5G>C
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.935A>T (p.Asp312Val) rs1362784498
NM_005592.4(MUSK):c.944_946delinsATA (p.Gly315_Tyr316delinsAspAsn) rs2131955443
NM_005592.4(MUSK):c.946T>C (p.Tyr316His) rs757775674
NM_005592.4(MUSK):c.952G>A (p.Ala318Thr)
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.964G>A (p.Gly322Arg) rs1449532775
NM_005592.4(MUSK):c.965G>C (p.Gly322Ala) rs2131955587
NM_005592.4(MUSK):c.990A>G (p.Ala330=) rs1588014706

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