NM_006790.3(MYOT):c.220= (p.Gln74=)
|
rs6890689
|
0.98540
|
NM_006790.3(MYOT):c.*98G>A
|
rs4288
|
0.10310
|
NM_006790.3(MYOT):c.149A>G (p.Gln50Arg)
|
rs34717730
|
0.02506
|
NM_006790.3(MYOT):c.-251A>G
|
rs6863775
|
0.01894
|
NM_006790.3(MYOT):c.*190C>G
|
rs74711051
|
0.01853
|
NM_006790.3(MYOT):c.780G>A (p.Ser260=)
|
rs116773838
|
0.01617
|
NM_006790.3(MYOT):c.220C>A (p.Gln74Lys)
|
rs6890689
|
0.01460
|
NM_006790.3(MYOT):c.1008G>T (p.Val336=)
|
rs142828368
|
0.00381
|
NM_006790.3(MYOT):c.1190+7T>C
|
rs192405601
|
0.00311
|
NM_006790.3(MYOT):c.822T>C (p.Ser274=)
|
rs138678049
|
0.00195
|
NM_006790.3(MYOT):c.445G>C (p.Glu149Gln)
|
rs71578935
|
0.00152
|
NM_006790.3(MYOT):c.981T>C (p.Asn327=)
|
rs148479015
|
0.00133
|
NM_006790.3(MYOT):c.634-15T>C
|
rs115598221
|
0.00082
|
NM_006790.3(MYOT):c.-233C>A
|
rs186433387
|
0.00069
|
NM_006790.3(MYOT):c.1190+12A>G
|
rs183456886
|
0.00055
|
NM_006790.3(MYOT):c.*404G>A
|
rs188240755
|
0.00051
|
NM_006790.3(MYOT):c.*463C>T
|
rs149535236
|
0.00051
|
NM_006790.3(MYOT):c.*311A>T
|
rs966703412
|
0.00044
|
NM_006790.3(MYOT):c.*372G>A
|
rs1029781405
|
0.00036
|
NM_006790.3(MYOT):c.120T>A (p.Ile40=)
|
rs139254363
|
0.00034
|
NM_006790.3(MYOT):c.617G>A (p.Gly206Asp)
|
rs151094883
|
0.00028
|
NM_006790.3(MYOT):c.323A>C (p.Asn108Thr)
|
rs142416150
|
0.00019
|
NM_006790.3(MYOT):c.1364G>A (p.Arg455Gln)
|
rs141801816
|
0.00017
|
NM_006790.3(MYOT):c.49T>C (p.Cys17Arg)
|
rs202005786
|
0.00016
|
NM_006790.3(MYOT):c.1413G>T (p.Leu471Phe)
|
rs146426896
|
0.00015
|
NM_006790.3(MYOT):c.1453C>T (p.Arg485Cys)
|
rs140755418
|
0.00013
|
NM_006790.3(MYOT):c.342C>T (p.Ser114=)
|
rs34593399
|
0.00013
|
NM_006790.3(MYOT):c.1286C>G (p.Ala429Gly)
|
rs144731446
|
0.00012
|
NM_006790.3(MYOT):c.571G>C (p.Gly191Arg)
|
rs199789331
|
0.00012
|
NM_006790.3(MYOT):c.533G>A (p.Arg178His)
|
rs150293853
|
0.00011
|
NM_006790.3(MYOT):c.594G>A (p.Val198=)
|
rs372287923
|
0.00011
|
NM_006790.3(MYOT):c.1324+11C>G
|
rs773002668
|
0.00010
|
NM_006790.3(MYOT):c.359A>G (p.Tyr120Cys)
|
rs141710153
|
0.00010
|
NM_006790.3(MYOT):c.1345C>G (p.Pro449Ala)
|
rs766650528
|
0.00009
|
NM_006790.3(MYOT):c.-165C>T
|
rs866748883
|
0.00006
|
NM_006790.3(MYOT):c.1203T>A (p.Asp401Glu)
|
rs78633961
|
0.00006
|
NM_006790.3(MYOT):c.1335C>T (p.Asn445=)
|
rs769506328
|
0.00006
|
NM_006790.3(MYOT):c.1458G>A (p.Leu486=)
|
rs202139846
|
0.00005
|
NM_006790.3(MYOT):c.252G>A (p.Arg84=)
|
rs886044687
|
0.00005
|
NM_006790.3(MYOT):c.642C>A (p.Asn214Lys)
|
rs957169726
|
0.00005
|
NM_006790.3(MYOT):c.*418T>C
|
rs778508971
|
0.00004
|
NM_006790.3(MYOT):c.1152A>G (p.Arg384=)
|
rs199541037
|
0.00004
|
NM_006790.3(MYOT):c.1159G>A (p.Glu387Lys)
|
rs373489115
|
0.00004
|
NM_006790.3(MYOT):c.357-15T>A
|
rs763876363
|
0.00004
|
NM_006790.3(MYOT):c.593T>C (p.Val198Ala)
|
rs776439973
|
0.00004
|
NM_006790.3(MYOT):c.629C>T (p.Ser210Leu)
|
rs756669574
|
0.00004
|
NM_006790.3(MYOT):c.656G>A (p.Arg219Gln)
|
rs745792335
|
0.00004
|
NM_006790.3(MYOT):c.943G>A (p.Ala315Thr)
|
rs536024294
|
0.00004
|
NM_006790.3(MYOT):c.-286C>G
|
rs1281967239
|
0.00003
|
NM_006790.3(MYOT):c.1132C>G (p.Pro378Ala)
|
rs1489391510
|
0.00003
|
NM_006790.3(MYOT):c.1201G>T (p.Asp401Tyr)
|
rs372167756
|
0.00003
|
NM_006790.3(MYOT):c.1317C>T (p.Asp439=)
|
rs147891371
|
0.00003
|
NM_006790.3(MYOT):c.1398T>G (p.Leu466=)
|
rs150033934
|
0.00003
|
NM_006790.3(MYOT):c.17G>A (p.Arg6His)
|
rs387906882
|
0.00003
|
NM_006790.3(MYOT):c.182A>C (p.His61Pro)
|
rs372276337
|
0.00003
|
NM_006790.3(MYOT):c.449T>C (p.Ile150Thr)
|
rs1163332539
|
0.00003
|
NM_006790.3(MYOT):c.61T>C (p.Leu21=)
|
rs150786535
|
0.00003
|
NM_006790.3(MYOT):c.758T>C (p.Ile253Thr)
|
rs201113539
|
0.00003
|
NM_006790.3(MYOT):c.817-11T>C
|
rs377759571
|
0.00003
|
NM_006790.3(MYOT):c.951T>C (p.Asp317=)
|
rs753927065
|
0.00003
|
NM_006790.3(MYOT):c.1457T>C (p.Leu486Ser)
|
rs372307298
|
0.00002
|
NM_006790.3(MYOT):c.1481A>C (p.Glu494Ala)
|
rs781052225
|
0.00002
|
NM_006790.3(MYOT):c.1497A>T (p.Ter499Tyr)
|
rs779978043
|
0.00002
|
NM_006790.3(MYOT):c.335T>A (p.Ile112Asn)
|
rs752723849
|
0.00002
|
NM_006790.3(MYOT):c.385A>G (p.Ile129Val)
|
rs1191595067
|
0.00002
|
NM_006790.3(MYOT):c.471G>A (p.Leu157=)
|
rs762886873
|
0.00002
|
NM_006790.3(MYOT):c.529C>G (p.Gln177Glu)
|
rs140135928
|
0.00002
|
NM_006790.3(MYOT):c.762A>C (p.Gln254His)
|
rs983379755
|
0.00002
|
NM_006790.3(MYOT):c.782T>C (p.Ile261Thr)
|
rs764439615
|
0.00002
|
NM_006790.3(MYOT):c.*167A>G
|
rs886059969
|
0.00001
|
NM_006790.3(MYOT):c.1015G>A (p.Asp339Asn)
|
rs201903235
|
0.00001
|
NM_006790.3(MYOT):c.1025-19T>A
|
rs762927139
|
0.00001
|
NM_006790.3(MYOT):c.1025-3T>C
|
rs1410370327
|
0.00001
|
NM_006790.3(MYOT):c.1102C>T (p.Leu368=)
|
rs747319274
|
0.00001
|
NM_006790.3(MYOT):c.1126C>T (p.Pro376Ser)
|
rs777061001
|
0.00001
|
NM_006790.3(MYOT):c.1128T>C (p.Pro376=)
|
rs1561665586
|
0.00001
|
NM_006790.3(MYOT):c.1139T>C (p.Leu380Pro)
|
rs902179316
|
0.00001
|
NM_006790.3(MYOT):c.1184G>A (p.Arg395Gln)
|
rs761659382
|
0.00001
|
NM_006790.3(MYOT):c.1191-7A>C
|
rs769023225
|
0.00001
|
NM_006790.3(MYOT):c.1191C>T (p.Ser397=)
|
rs1430285102
|
0.00001
|
NM_006790.3(MYOT):c.1195T>C (p.Tyr399His)
|
rs147239483
|
0.00001
|
NM_006790.3(MYOT):c.1222T>C (p.Leu408=)
|
rs886059968
|
0.00001
|
NM_006790.3(MYOT):c.122T>C (p.Ile41Thr)
|
rs587780396
|
0.00001
|
NM_006790.3(MYOT):c.1236T>C (p.Asp412=)
|
rs761712531
|
0.00001
|
NM_006790.3(MYOT):c.1242C>T (p.Asn414=)
|
rs1173495538
|
0.00001
|
NM_006790.3(MYOT):c.1266T>A (p.Thr422=)
|
rs760246681
|
0.00001
|
NM_006790.3(MYOT):c.1300T>C (p.Cys434Arg)
|
rs769872126
|
0.00001
|
NM_006790.3(MYOT):c.1325-4T>A
|
rs544136408
|
0.00001
|
NM_006790.3(MYOT):c.1327C>T (p.Arg443Cys)
|
rs192257955
|
0.00001
|
NM_006790.3(MYOT):c.1370G>A (p.Arg457Gln)
|
rs755203621
|
0.00001
|
NM_006790.3(MYOT):c.1386A>G (p.Lys462=)
|
rs758512747
|
0.00001
|
NM_006790.3(MYOT):c.1391T>C (p.Leu464Ser)
|
rs777693396
|
0.00001
|
NM_006790.3(MYOT):c.1411T>C (p.Leu471=)
|
rs886043262
|
0.00001
|
NM_006790.3(MYOT):c.1439A>G (p.Glu480Gly)
|
rs727504026
|
0.00001
|
NM_006790.3(MYOT):c.143C>T (p.Thr48Ile)
|
rs770515990
|
0.00001
|
NM_006790.3(MYOT):c.1442G>A (p.Gly481Glu)
|
rs766736443
|
0.00001
|
NM_006790.3(MYOT):c.1471G>A (p.Gly491Arg)
|
rs375274205
|
0.00001
|
NM_006790.3(MYOT):c.1478A>G (p.Tyr493Cys)
|
rs757233743
|
0.00001
|
NM_006790.3(MYOT):c.179C>T (p.Ser60Phe)
|
rs121908458
|
0.00001
|
NM_006790.3(MYOT):c.191T>A (p.Met64Lys)
|
rs763147610
|
0.00001
|
NM_006790.3(MYOT):c.232G>A (p.Gly78Ser)
|
rs1755029530
|
0.00001
|
NM_006790.3(MYOT):c.255T>C (p.Val85=)
|
rs368052792
|
0.00001
|
NM_006790.3(MYOT):c.318T>C (p.Asp106=)
|
rs753980297
|
0.00001
|
NM_006790.3(MYOT):c.372del (p.Ala125fs)
|
rs781353247
|
0.00001
|
NM_006790.3(MYOT):c.392C>A (p.Ala131Glu)
|
rs982468554
|
0.00001
|
NM_006790.3(MYOT):c.398C>T (p.Pro133Leu)
|
rs779568205
|
0.00001
|
NM_006790.3(MYOT):c.414T>C (p.Asn138=)
|
rs747546314
|
0.00001
|
NM_006790.3(MYOT):c.420G>A (p.Lys140=)
|
rs1011148618
|
0.00001
|
NM_006790.3(MYOT):c.424A>G (p.Ile142Val)
|
rs771238896
|
0.00001
|
NM_006790.3(MYOT):c.459A>G (p.Ser153=)
|
rs770101476
|
0.00001
|
NM_006790.3(MYOT):c.464A>C (p.Glu155Ala)
|
rs148166751
|
0.00001
|
NM_006790.3(MYOT):c.511C>T (p.Leu171Phe)
|
rs997275341
|
0.00001
|
NM_006790.3(MYOT):c.524G>A (p.Gly175Glu)
|
rs1304612966
|
0.00001
|
NM_006790.3(MYOT):c.560G>A (p.Arg187His)
|
rs200273223
|
0.00001
|
NM_006790.3(MYOT):c.618T>C (p.Gly206=)
|
rs1477979641
|
0.00001
|
NM_006790.3(MYOT):c.630G>A (p.Ser210=)
|
rs375308029
|
0.00001
|
NM_006790.3(MYOT):c.650A>G (p.His217Arg)
|
rs758565747
|
0.00001
|
NM_006790.3(MYOT):c.654G>A (p.Ala218=)
|
rs142477496
|
0.00001
|
NM_006790.3(MYOT):c.655C>T (p.Arg219Ter)
|
rs781249546
|
0.00001
|
NM_006790.3(MYOT):c.683+10T>A
|
rs1296659208
|
0.00001
|
NM_006790.3(MYOT):c.683+9T>A
|
rs766928007
|
0.00001
|
NM_006790.3(MYOT):c.684-7C>T
|
rs751768323
|
0.00001
|
NM_006790.3(MYOT):c.686G>A (p.Ser229Asn)
|
rs193920888
|
0.00001
|
NM_006790.3(MYOT):c.751C>T (p.Arg251Cys)
|
rs760118881
|
0.00001
|
NM_006790.3(MYOT):c.752G>A (p.Arg251His)
|
rs1477747475
|
0.00001
|
NM_006790.3(MYOT):c.816+5G>T
|
rs750433300
|
0.00001
|
NM_006790.3(MYOT):c.858T>C (p.Asn286=)
|
rs915451656
|
0.00001
|
NM_006790.3(MYOT):c.859G>A (p.Gly287Arg)
|
rs374221793
|
0.00001
|
NM_006790.3(MYOT):c.870T>A (p.Val290=)
|
rs946857518
|
0.00001
|
NM_006790.3(MYOT):c.966A>G (p.Ala322=)
|
rs765025826
|
0.00001
|
NM_006790.3(MYOT):c.96T>C (p.Ser32=)
|
rs545828785
|
0.00001
|
NM_006790.3(MYOT):c.998C>T (p.Thr333Ile)
|
rs758194318
|
0.00001
|
NM_006790.3(MYOT):c.999C>A (p.Thr333=)
|
rs1320608556
|
0.00001
|
NC_000005.10:g.137881974_137881979del
|
|
|
NM_006790.3(MYOT):c.*188A>C
|
rs1561666869
|
|
NM_006790.3(MYOT):c.*50T>G
|
rs1755640829
|
|
NM_006790.3(MYOT):c.-89del
|
rs886059966
|
|
NM_006790.3(MYOT):c.1006G>C (p.Val336Leu)
|
|
|
NM_006790.3(MYOT):c.1020C>T (p.Val340=)
|
rs2149988121
|
|
NM_006790.3(MYOT):c.1024+5G>A
|
|
|
NM_006790.3(MYOT):c.1025-5T>C
|
rs200696022
|
|
NM_006790.3(MYOT):c.1041A>G (p.Arg347=)
|
|
|
NM_006790.3(MYOT):c.107_110del (p.Lys36fs)
|
rs398124238
|
|
NM_006790.3(MYOT):c.1084G>A (p.Glu362Lys)
|
|
|
NM_006790.3(MYOT):c.1084G>C (p.Glu362Gln)
|
rs755615381
|
|
NM_006790.3(MYOT):c.1086G>C (p.Glu362Asp)
|
|
|
NM_006790.3(MYOT):c.1089A>C (p.Gly363=)
|
rs2149989834
|
|
NM_006790.3(MYOT):c.1113G>C (p.Gln371His)
|
|
|
NM_006790.3(MYOT):c.1118C>T (p.Ser373Leu)
|
|
|
NM_006790.3(MYOT):c.1119G>A (p.Ser373=)
|
|
|
NM_006790.3(MYOT):c.1126C>A (p.Pro376Thr)
|
|
|
NM_006790.3(MYOT):c.1126C>G (p.Pro376Ala)
|
|
|
NM_006790.3(MYOT):c.1129C>A (p.Pro377Thr)
|
|
|
NM_006790.3(MYOT):c.1142T>C (p.Phe381Ser)
|
|
|
NM_006790.3(MYOT):c.1167A>G (p.Val389=)
|
|
|
NM_006790.3(MYOT):c.1168C>T (p.Gln390Ter)
|
|
|
NM_006790.3(MYOT):c.116C>T (p.Ser39Phe)
|
rs121908461
|
|
NM_006790.3(MYOT):c.1175A>G (p.Asn392Ser)
|
|
|
NM_006790.3(MYOT):c.118A>G (p.Ile40Val)
|
|
|
NM_006790.3(MYOT):c.1190+18A>G
|
|
|
NM_006790.3(MYOT):c.1191-19T>G
|
|
|
NM_006790.3(MYOT):c.1194A>G (p.Leu398=)
|
rs781674627
|
|
NM_006790.3(MYOT):c.1202A>G (p.Asp401Gly)
|
|
|
NM_006790.3(MYOT):c.1208C>T (p.Thr403Ile)
|
|
|
NM_006790.3(MYOT):c.1231A>C (p.Lys411Gln)
|
|
|
NM_006790.3(MYOT):c.1234G>C (p.Asp412His)
|
|
|
NM_006790.3(MYOT):c.1253C>T (p.Ala418Val)
|
rs2149990334
|
|
NM_006790.3(MYOT):c.1275A>G (p.Ala425=)
|
rs140678912
|
|
NM_006790.3(MYOT):c.1275A>T (p.Ala425=)
|
rs140678912
|
|
NM_006790.3(MYOT):c.1281T>C (p.Asn427=)
|
|
|
NM_006790.3(MYOT):c.1291G>A (p.Val431Met)
|
rs756306645
|
|
NM_006790.3(MYOT):c.1294A>T (p.Thr432Ser)
|
|
|
NM_006790.3(MYOT):c.12C>T (p.Tyr4=)
|
|
|
NM_006790.3(MYOT):c.1307C>A (p.Thr436Lys)
|
|
|
NM_006790.3(MYOT):c.1318G>A (p.Val440Ile)
|
|
|
NM_006790.3(MYOT):c.1322C>T (p.Thr441Met)
|
|
|
NM_006790.3(MYOT):c.1323G>A (p.Thr441=)
|
|
|
NM_006790.3(MYOT):c.1324+12T>A
|
rs1580868461
|
|
NM_006790.3(MYOT):c.1324+18C>T
|
rs1266793465
|
|
NM_006790.3(MYOT):c.1324+9T>A
|
|
|
NM_006790.3(MYOT):c.1325-1G>A
|
|
|
NM_006790.3(MYOT):c.1327C>G (p.Arg443Gly)
|
|
|
NM_006790.3(MYOT):c.1328G>A (p.Arg443His)
|
|
|
NM_006790.3(MYOT):c.1346del (p.Pro449fs)
|
rs780331457
|
|
NM_006790.3(MYOT):c.134G>A (p.Arg45His)
|
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NM_006790.3(MYOT):c.134G>T (p.Arg45Leu)
|
rs1358850010
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NM_006790.3(MYOT):c.1363C>T (p.Arg455Trp)
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NM_006790.3(MYOT):c.1364G>C (p.Arg455Pro)
|
rs141801816
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NM_006790.3(MYOT):c.1366G>A (p.Val456Ile)
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NM_006790.3(MYOT):c.1369C>A (p.Arg457=)
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NM_006790.3(MYOT):c.1378T>C (p.Phe460Leu)
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NM_006790.3(MYOT):c.137A>G (p.Gln46Arg)
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NM_006790.3(MYOT):c.137A>T (p.Gln46Leu)
|
rs2149978825
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NM_006790.3(MYOT):c.1391_1398del (p.Tyr463_Leu464insTer)
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NM_006790.3(MYOT):c.1392A>T (p.Leu464Phe)
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NM_006790.3(MYOT):c.1396C>T (p.Leu466Phe)
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NM_006790.3(MYOT):c.1397T>G (p.Leu466Arg)
|
rs1295267806
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NM_006790.3(MYOT):c.13G>A (p.Glu5Lys)
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NM_006790.3(MYOT):c.1401T>A (p.Asn467Lys)
|
rs145427063
|
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NM_006790.3(MYOT):c.1401T>C (p.Asn467=)
|
rs145427063
|
|
NM_006790.3(MYOT):c.1404G>C (p.Gly468=)
|
rs200075800
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NM_006790.3(MYOT):c.1409G>C (p.Gly470Ala)
|
rs149213350
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NM_006790.3(MYOT):c.1417dup (p.Val473fs)
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NM_006790.3(MYOT):c.1418T>C (p.Val473Ala)
|
rs748921791
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NM_006790.3(MYOT):c.1424A>C (p.Gln475Pro)
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NM_006790.3(MYOT):c.1425A>G (p.Gln475=)
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NM_006790.3(MYOT):c.1439_1441del (p.Glu480del)
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NM_006790.3(MYOT):c.143C>G (p.Thr48Arg)
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NM_006790.3(MYOT):c.1454G>A (p.Arg485His)
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NM_006790.3(MYOT):c.1454G>T (p.Arg485Leu)
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NM_006790.3(MYOT):c.145G>C (p.Glu49Gln)
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rs199760778
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NM_006790.3(MYOT):c.1479T>C (p.Tyr493=)
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NM_006790.3(MYOT):c.147G>C (p.Glu49Asp)
|
rs1309789504
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NM_006790.3(MYOT):c.151A>G (p.Arg51Gly)
|
rs2149978850
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NM_006790.3(MYOT):c.156T>C (p.Phe52=)
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NM_006790.3(MYOT):c.164C>T (p.Ser55Phe)
|
rs121908457
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NM_006790.3(MYOT):c.167C>T (p.Ser56Leu)
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NM_006790.3(MYOT):c.16C>G (p.Arg6Gly)
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NM_006790.3(MYOT):c.16C>T (p.Arg6Cys)
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NM_006790.3(MYOT):c.170C>T (p.Thr57Ile)
|
rs28937597
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NM_006790.3(MYOT):c.170del (p.Thr57fs)
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NM_006790.3(MYOT):c.176G>A (p.Ser59Asn)
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NM_006790.3(MYOT):c.179C>G (p.Ser60Cys)
|
rs121908458
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NM_006790.3(MYOT):c.188C>T (p.Thr63Ile)
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NM_006790.3(MYOT):c.189C>G (p.Thr63=)
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NM_006790.3(MYOT):c.198C>A (p.Ser66=)
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NM_006790.3(MYOT):c.1A>T (p.Met1Leu)
|
rs1561657261
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|
NM_006790.3(MYOT):c.207C>T (p.Phe69=)
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NM_006790.3(MYOT):c.225G>C (p.Gln75His)
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NM_006790.3(MYOT):c.239A>G (p.Asn80Ser)
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|
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NM_006790.3(MYOT):c.240C>T (p.Asn80=)
|
rs529067126
|
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NM_006790.3(MYOT):c.249A>G (p.Gln83=)
|
rs746724861
|
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NM_006790.3(MYOT):c.252G>C (p.Arg84Ser)
|
rs886044687
|
|
NM_006790.3(MYOT):c.257C>A (p.Thr86Lys)
|
rs1205992276
|
|
NM_006790.3(MYOT):c.279A>G (p.Pro93=)
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NM_006790.3(MYOT):c.280G>A (p.Ala94Thr)
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NM_006790.3(MYOT):c.284G>T (p.Ser95Ile)
|
rs121908460
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NM_006790.3(MYOT):c.298A>G (p.Ile100Val)
|
rs1423966332
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NM_006790.3(MYOT):c.318T>A (p.Asp106Glu)
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NM_006790.3(MYOT):c.32T>C (p.Ile11Thr)
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NM_006790.3(MYOT):c.343G>A (p.Ala115Thr)
|
rs114194130
|
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NM_006790.3(MYOT):c.343G>T (p.Ala115Ser)
|
rs114194130
|
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NM_006790.3(MYOT):c.348G>A (p.Met116Ile)
|
rs1295803826
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NM_006790.3(MYOT):c.356+13T>G
|
rs1461754985
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NM_006790.3(MYOT):c.357-17_357-14del
|
|
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NM_006790.3(MYOT):c.357-19T>C
|
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NM_006790.3(MYOT):c.364C>T (p.Gln122Ter)
|
|
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NM_006790.3(MYOT):c.387A>G (p.Ile129Met)
|
rs1554102960
|
|
NM_006790.3(MYOT):c.391G>T (p.Ala131Ser)
|
rs1554102961
|
|
NM_006790.3(MYOT):c.392C>T (p.Ala131Val)
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|
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NM_006790.3(MYOT):c.409G>A (p.Ala137Thr)
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NM_006790.3(MYOT):c.427C>T (p.Pro143Ser)
|
|
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NM_006790.3(MYOT):c.436C>T (p.Pro146Ser)
|
rs1755197357
|
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NM_006790.3(MYOT):c.469T>C (p.Leu157=)
|
|
|
NM_006790.3(MYOT):c.473T>C (p.Ile158Thr)
|
|
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NM_006790.3(MYOT):c.48A>C (p.Pro16=)
|
rs1755018928
|
|
NM_006790.3(MYOT):c.490A>C (p.Lys164Gln)
|
rs1214787397
|
|
NM_006790.3(MYOT):c.495G>C (p.Leu165=)
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NM_006790.3(MYOT):c.49T>A (p.Cys17Ser)
|
|
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NM_006790.3(MYOT):c.500G>A (p.Cys167Tyr)
|
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NM_006790.3(MYOT):c.508A>C (p.Thr170Pro)
|
|
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NM_006790.3(MYOT):c.50G>A (p.Cys17Tyr)
|
rs2149978722
|
|
NM_006790.3(MYOT):c.516T>C (p.Leu172=)
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|
|
NM_006790.3(MYOT):c.519T>C (p.His173=)
|
rs1417425923
|
|
NM_006790.3(MYOT):c.522T>C (p.Asn174=)
|
rs2149982065
|
|
NM_006790.3(MYOT):c.524G>T (p.Gly175Val)
|
|
|
NM_006790.3(MYOT):c.531+16A>G
|
|
|
NM_006790.3(MYOT):c.532-12A>T
|
rs2149983126
|
|
NM_006790.3(MYOT):c.532-5T>C
|
rs1313241093
|
|
NM_006790.3(MYOT):c.532C>T (p.Arg178Cys)
|
|
|
NM_006790.3(MYOT):c.533G>T (p.Arg178Leu)
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NM_006790.3(MYOT):c.53G>T (p.Gly18Val)
|
|
|
NM_006790.3(MYOT):c.552G>C (p.Lys184Asn)
|
rs2149983161
|
|
NM_006790.3(MYOT):c.556G>T (p.Ala186Ser)
|
|
|
NM_006790.3(MYOT):c.562del (p.Arg188fs)
|
|
|
NM_006790.3(MYOT):c.563G>A (p.Arg188Lys)
|
|
|
NM_006790.3(MYOT):c.563G>T (p.Arg188Ile)
|
rs370165036
|
|
NM_006790.3(MYOT):c.565T>C (p.Leu189=)
|
|
|
NM_006790.3(MYOT):c.609T>A (p.Asp203Glu)
|
rs1561660796
|
|
NM_006790.3(MYOT):c.614G>C (p.Ser205Thr)
|
|
|
NM_006790.3(MYOT):c.61T>A (p.Leu21Met)
|
|
|
NM_006790.3(MYOT):c.634-14_634-10del
|
rs747808820
|
|
NM_006790.3(MYOT):c.642C>T (p.Asn214=)
|
rs957169726
|
|
NM_006790.3(MYOT):c.651T>C (p.His217=)
|
rs2149985942
|
|
NM_006790.3(MYOT):c.653C>A (p.Ala218Glu)
|
rs533510304
|
|
NM_006790.3(MYOT):c.653C>T (p.Ala218Val)
|
|
|
NM_006790.3(MYOT):c.660G>C (p.Leu220=)
|
rs775405759
|
|
NM_006790.3(MYOT):c.667C>T (p.Pro223Ser)
|
|
|
NM_006790.3(MYOT):c.677A>T (p.Gln226Leu)
|
|
|
NM_006790.3(MYOT):c.67C>A (p.Pro23Thr)
|
rs751876756
|
|
NM_006790.3(MYOT):c.67C>T (p.Pro23Ser)
|
rs751876756
|
|
NM_006790.3(MYOT):c.680_683del (p.Val227fs)
|
rs775014749
|
|
NM_006790.3(MYOT):c.683+1G>C
|
rs2149985981
|
|
NM_006790.3(MYOT):c.683+8A>T
|
|
|
NM_006790.3(MYOT):c.683+8del
|
rs760217241
|
|
NM_006790.3(MYOT):c.684-11T>C
|
|
|
NM_006790.3(MYOT):c.684-16C>A
|
|
|
NM_006790.3(MYOT):c.684-16C>T
|
rs2149986871
|
|
NM_006790.3(MYOT):c.684-3T>C
|
|
|
NM_006790.3(MYOT):c.684-7C>A
|
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|
NM_006790.3(MYOT):c.685A>G (p.Ser229Gly)
|
|
|
NM_006790.3(MYOT):c.690A>G (p.Arg230=)
|
|
|
NM_006790.3(MYOT):c.691T>C (p.Ser231Pro)
|
|
|
NM_006790.3(MYOT):c.693A>C (p.Ser231=)
|
|
|
NM_006790.3(MYOT):c.701G>A (p.Arg234Lys)
|
rs1755447825
|
|
NM_006790.3(MYOT):c.709G>A (p.Val237Met)
|
|
|
NM_006790.3(MYOT):c.714T>C (p.Asn238=)
|
|
|
NM_006790.3(MYOT):c.725C>T (p.Ala242Val)
|
|
|
NM_006790.3(MYOT):c.735G>A (p.Glu245=)
|
|
|
NM_006790.3(MYOT):c.740T>G (p.Phe247Cys)
|
|
|
NM_006790.3(MYOT):c.744C>T (p.Tyr248=)
|
rs1755452268
|
|
NM_006790.3(MYOT):c.775A>G (p.Met259Val)
|
|
|
NM_006790.3(MYOT):c.776T>G (p.Met259Arg)
|
|
|
NM_006790.3(MYOT):c.784G>C (p.Asp262His)
|
rs1271782226
|
|
NM_006790.3(MYOT):c.793A>C (p.Arg265=)
|
rs1580862520
|
|
NM_006790.3(MYOT):c.808G>C (p.Asp270His)
|
rs1561663452
|
|
NM_006790.3(MYOT):c.815A>C (p.Lys272Thr)
|
|
|
NM_006790.3(MYOT):c.816+12G>C
|
|
|
NM_006790.3(MYOT):c.816+16A>G
|
|
|
NM_006790.3(MYOT):c.816+17A>G
|
rs1561663485
|
|
NM_006790.3(MYOT):c.817-14G>A
|
|
|
NM_006790.3(MYOT):c.83C>T (p.Thr28Ile)
|
rs767662244
|
|
NM_006790.3(MYOT):c.855A>C (p.Leu285=)
|
|
|
NM_006790.3(MYOT):c.866C>G (p.Thr289Arg)
|
|
|
NM_006790.3(MYOT):c.86C>T (p.Ser29Phe)
|
rs1580847200
|
|
NM_006790.3(MYOT):c.884T>G (p.Leu295Trp)
|
|
|
NM_006790.3(MYOT):c.888C>T (p.His296=)
|
rs565902195
|
|
NM_006790.3(MYOT):c.900G>A (p.Val300=)
|
|
|
NM_006790.3(MYOT):c.903T>C (p.Ser301=)
|
rs1755503081
|
|
NM_006790.3(MYOT):c.927C>A (p.Ile309=)
|
|
|
NM_006790.3(MYOT):c.935T>C (p.Val312Ala)
|
|
|
NM_006790.3(MYOT):c.937G>A (p.Val313Ile)
|
rs760955035
|
|
NM_006790.3(MYOT):c.951T>G (p.Asp317Glu)
|
rs753927065
|
|
NM_006790.3(MYOT):c.956G>C (p.Gly319Ala)
|
rs1330407694
|
|
NM_006790.3(MYOT):c.959C>T (p.Ala320Val)
|
rs2149988068
|
|
NM_006790.3(MYOT):c.972T>A (p.Val324=)
|
|
|
NM_006790.3(MYOT):c.982A>G (p.Arg328Gly)
|
rs2149988081
|
|
NM_006790.3(MYOT):c.983G>A (p.Arg328Lys)
|
|
|
NM_006790.3(MYOT):c.98G>T (p.Ser33Ile)
|
rs1554102559
|
|