ClinVar Miner

List of variants studied for centronuclear myopathy

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2229
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HGVS dbSNP gnomAD frequency
NM_016653.3(MAP3K20):c.670-11G>C rs11899707 0.98158
NM_005876.5(SPEG):c.9462-27C>T rs907146 0.96294
NM_016653.3(MAP3K20):c.1360-28A>G rs820008 0.72578
NM_001378030.1(CCDC78):c.754T>C (p.Trp252Arg) rs2071950 0.59279
NM_000252.3(MTM1):c.1260+3G>A rs222410 0.58566
NM_001005361.3(DNM2):c.236-29C>G rs3826803 0.56569
NM_139343.3(BIN1):c.84+4287G>T rs755639 0.56496
NM_001378030.1(CCDC78):c.1302-53A>G rs12599130 0.54951
NM_139343.3(BIN1):c.1002+163T>C rs2276582 0.53506
NM_001378030.1(CCDC78):c.766-11G>A rs4984921 0.47174
NM_005876.5(SPEG):c.2226G>A (p.Lys742=) rs10932806 0.42459
NM_005876.5(SPEG):c.9236A>G (p.His3079Arg) rs12464085 0.38593
NM_139343.3(BIN1):c.1372-90C>T rs6745677 0.38066
NM_005876.5(SPEG):c.8368A>G (p.Arg2790Gly) rs55760516 0.37734
NM_139343.3(BIN1):c.1573-128T>A rs2071270 0.35075
NM_139343.3(BIN1):c.1132-126_1132-125dup rs35339559 0.33588
NM_139343.3(BIN1):c.412-25T>C rs67327804 0.33319
NM_016653.3(MAP3K20):c.445-37A>G rs2289399 0.30550
NM_139343.3(BIN1):c.698+10A>G rs72481904 0.30545
NM_139343.3(BIN1):c.774+62G>A rs2071268 0.30494
NM_001005361.3(DNM2):c.2139T>C (p.Ala713=) rs2229920 0.30148
NM_139343.3(BIN1):c.486T>C (p.Thr162=) rs1060743 0.29063
NM_016653.3(MAP3K20):c.1032+39G>A rs16861404 0.26026
NM_005876.5(SPEG):c.7839G>A (p.Pro2613=) rs875098 0.25609
NM_005876.5(SPEG):c.9390G>T (p.Pro3130=) rs12473286 0.25371
NM_005876.5(SPEG):c.6566C>T (p.Pro2189Leu) rs10755037 0.25298
NM_001378030.1(CCDC78):c.180+19C>G rs12446058 0.21130
NM_139343.3(BIN1):c.1674+56G>A rs7568161 0.20707
NM_139343.3(BIN1):c.858-12C>A rs6720741 0.20254
NM_001378030.1(CCDC78):c.180+11G>T rs12448312 0.19609
NM_001378030.1(CCDC78):c.180+12G>T rs12448311 0.19608
NM_001005361.3(DNM2):c.*268A>T rs12461992 0.17591
NM_139343.3(BIN1):c.957C>T (p.Ala319=) rs2276579 0.13837
NM_139343.3(BIN1):c.-27C>T rs11554586 0.13209
NM_005876.5(SPEG):c.8059C>A (p.Pro2687Thr) rs13026308 0.10397
NM_139343.3(BIN1):c.775-4G>A rs61748157 0.10181
NM_139343.2(BIN1):c.-389T>A rs56827597 0.08511
NM_139343.3(BIN1):c.1573-18G>C rs12466912 0.04714
NM_139343.3(BIN1):c.714C>T (p.Tyr238=) rs1137845 0.04283
NM_139343.3(BIN1):c.894G>A (p.Ser298=) rs2228955 0.03955
NM_001378030.1(CCDC78):c.549G>A (p.Leu183=) rs8055909 0.03578
NM_000252.3(MTM1):c.232-28C>T rs73620649 0.03576
NM_001005361.3(DNM2):c.*385C>T rs78160240 0.03446
NM_139343.3(BIN1):c.1595C>T (p.Thr532Met) rs112318500 0.03069
NM_001005361.3(DNM2):c.1077C>T (p.Gly359=) rs112238216 0.02416
NM_139343.2(BIN1):c.*501G>A rs77059199 0.02237
NM_001378030.1(CCDC78):c.937C>T (p.Leu313=) rs61998209 0.01878
NM_139343.3(BIN1):c.1362G>T (p.Gly454=) rs61748155 0.01414
NM_005876.5(SPEG):c.6692C>A (p.Pro2231His) rs183551699 0.01350
NM_001005361.3(DNM2):c.2484G>A (p.Pro828=) rs114682382 0.01064
NM_001005361.3(DNM2):c.235+12C>A rs147026993 0.00953
NM_139343.3(BIN1):c.1263+11C>T rs78967885 0.00935
NM_001005361.3(DNM2):c.1782-11C>T rs78580529 0.00921
NM_001378030.1(CCDC78):c.712A>C (p.Lys238Gln) rs142136104 0.00853
NM_139343.3(BIN1):c.1625A>G (p.Lys542Arg) rs138047593 0.00841
NM_001005361.3(DNM2):c.235+6A>G rs113192269 0.00748
NM_000252.3(MTM1):c.1260+17A>G rs185258809 0.00687
NM_000252.3(MTM1):c.136+17A>G rs142891103 0.00648
NM_001005361.3(DNM2):c.1196+773C>T rs150975494 0.00628
NM_005876.5(SPEG):c.7810C>T (p.Leu2604Phe) rs77314619 0.00575
NM_001005361.3(DNM2):c.*47G>A rs367938944 0.00550
NM_001378030.1(CCDC78):c.803C>T (p.Thr268Met) rs77707419 0.00503
NM_139343.3(BIN1):c.1132-7T>C rs115938552 0.00498
NM_001378030.1(CCDC78):c.889C>T (p.Arg297Cys) rs61998220 0.00468
NM_139343.3(BIN1):c.888C>T (p.Ser296=) rs114833236 0.00403
NM_001005361.3(DNM2):c.2543+7C>G rs201979143 0.00364
NM_001005361.3(DNM2):c.236-8C>G rs143084059 0.00361
NM_001005361.3(DNM2):c.519T>C (p.Ala173=) rs77702567 0.00359
NM_000252.3(MTM1):c.232-54A>T rs143312552 0.00356
NM_000252.3(MTM1):c.64-14T>C rs184956219 0.00340
NM_001378030.1(CCDC78):c.267+11G>A rs78103693 0.00338
NM_000252.3(MTM1):c.136+9C>T rs191553188 0.00337
NM_001005361.3(DNM2):c.*671T>C rs190696940 0.00325
NM_002469.3(MYF6):c.544A>C (p.Thr182Pro) rs141278987 0.00283
NM_001378030.1(CCDC78):c.60T>C (p.Asn20=) rs73489339 0.00274
NM_001378030.1(CCDC78):c.781G>A (p.Ala261Thr) rs186738044 0.00264
NM_001005361.3(DNM2):c.190G>A (p.Val64Ile) rs144250390 0.00243
NM_139343.3(BIN1):c.1131+18C>T rs191760397 0.00233
NM_139343.3(BIN1):c.858-5C>T rs75328896 0.00222
NM_001378030.1(CCDC78):c.966C>A (p.Asn322Lys) rs148595483 0.00212
NM_139343.3(BIN1):c.384G>A (p.Thr128=) rs61748158 0.00203
NM_002469.3(MYF6):c.352C>A (p.Arg118=) rs34563783 0.00197
NM_001378030.1(CCDC78):c.953+10G>A rs79863898 0.00195
NM_001378030.1(CCDC78):c.492+1G>A rs138669350 0.00180
NM_001378030.1(CCDC78):c.737G>A (p.Arg246Gln) rs147606575 0.00180
NM_001378030.1(CCDC78):c.1238G>A (p.Arg413Gln) rs148276717 0.00171
NM_001005361.3(DNM2):c.643G>A (p.Asp215Asn) rs145478270 0.00168
NM_001005361.3(DNM2):c.2160C>T (p.Asp720=) rs117598326 0.00163
NM_139343.2(BIN1):c.-314G>C rs531361957 0.00163
NM_001378030.1(CCDC78):c.384G>T (p.Glu128Asp) rs145274257 0.00159
NM_001378030.1(CCDC78):c.1043G>A (p.Arg348Gln) rs142170929 0.00154
NM_139343.3(BIN1):c.1540C>T (p.Arg514Cys) rs148422103 0.00152
NM_001005361.3(DNM2):c.1902C>T (p.Asn634=) rs2229919 0.00149
NM_001042492.3(NF1):c.846G>A (p.Gln282=) rs138840528 0.00149
NM_001005361.3(DNM2):c.*185A>C rs570774479 0.00135
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His) rs79204362 0.00125
NM_001378030.1(CCDC78):c.755G>A (p.Trp252Ter) rs142133229 0.00125
NM_005876.5(SPEG):c.2572C>T (p.Arg858Cys) rs199582765 0.00124
NM_001005361.3(DNM2):c.238C>T (p.His80Tyr) rs148790687 0.00123
NM_002469.3(MYF6):c.334G>T (p.Ala112Ser) rs28928909 0.00121
NM_005876.5(SPEG):c.4400G>A (p.Arg1467Gln) rs181222936 0.00113
NM_000252.3(MTM1):c.339T>C (p.Cys113=) rs147644722 0.00111
NM_002469.3(MYF6):c.559T>A (p.Trp187Arg) rs143677057 0.00111
NM_001378030.1(CCDC78):c.1098C>T (p.Pro366=) rs140104512 0.00106
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser) rs147213895 0.00104
NM_001005361.3(DNM2):c.2061G>A (p.Thr687=) rs149164657 0.00102
NM_139343.3(BIN1):c.1611C>T (p.Asp537=) rs142523172 0.00101
NM_139343.3(BIN1):c.1003-15G>A rs149290511 0.00095
NM_001378030.1(CCDC78):c.1134-9C>T rs199505710 0.00088
NM_001378030.1(CCDC78):c.1245G>A (p.Thr415=) rs146067716 0.00088
NM_001378030.1(CCDC78):c.308G>A (p.Arg103Gln) rs151206197 0.00087
NM_001005361.3(DNM2):c.*607G>A rs117954916 0.00085
NM_002469.3(MYF6):c.269C>A (p.Ala90Asp) rs138296448 0.00077
NM_001378030.1(CCDC78):c.23G>A (p.Gly8Asp) rs181469519 0.00068
NM_139343.3(BIN1):c.30G>A (p.Thr10=) rs35535012 0.00067
NM_001378030.1(CCDC78):c.196G>A (p.Val66Ile) rs145112523 0.00066
NM_005876.5(SPEG):c.3700C>T (p.Arg1234Trp) rs55916864 0.00063
NM_002469.3(MYF6):c.528T>C (p.Gly176=) rs145205388 0.00060
NM_139343.3(BIN1):c.471C>T (p.Tyr157=) rs138885327 0.00058
NM_001378030.1(CCDC78):c.1302-8C>A rs201006875 0.00057
NM_001378030.1(CCDC78):c.1190G>A (p.Arg397His) rs150304459 0.00055
NM_000252.3(MTM1):c.615G>A (p.Pro205=) rs144517020 0.00053
NM_001378030.1(CCDC78):c.183C>G (p.Ile61Met) rs140761899 0.00052
NM_000252.3(MTM1):c.867+13A>C rs368954714 0.00051
NM_001378030.1(CCDC78):c.918G>C (p.Leu306=) rs139766874 0.00049
NM_001378030.1(CCDC78):c.1220G>A (p.Arg407Gln) rs141141442 0.00048
NM_001378030.1(CCDC78):c.490G>A (p.Gly164Ser) rs200747487 0.00048
NM_002469.3(MYF6):c.292G>T (p.Ala98Ser) rs199669444 0.00047
NM_139343.3(BIN1):c.*22C>T rs200108564 0.00046
NM_001378030.1(CCDC78):c.493-16C>T rs200531006 0.00044
NM_001005361.3(DNM2):c.788C>T (p.Pro263Leu) rs3745674 0.00043
NM_002469.3(MYF6):c.347T>C (p.Leu116Pro) rs200372502 0.00043
NM_139343.3(BIN1):c.1292C>T (p.Pro431Leu) rs141119288 0.00043
NM_001378030.1(CCDC78):c.492C>T (p.Gly164=) rs144396385 0.00041
NM_139343.3(BIN1):c.*303A>G rs766515815 0.00041
NM_139343.3(BIN1):c.1629T>G (p.Ala543=) rs143258043 0.00041
NM_001005361.3(DNM2):c.*88C>G rs886054143 0.00038
NM_001378030.1(CCDC78):c.200A>G (p.Asp67Gly) rs150363147 0.00037
NM_001378030.1(CCDC78):c.575G>A (p.Arg192Gln) rs144643237 0.00037
NM_001005361.3(DNM2):c.*82C>T rs569502521 0.00036
NM_139343.3(BIN1):c.715G>A (p.Val239Ile) rs146573197 0.00036
NM_139343.3(BIN1):c.696C>A (p.Asn232Lys) rs143820618 0.00034
NM_139343.3(BIN1):c.906C>T (p.Gly302=) rs371258305 0.00031
NM_000252.3(MTM1):c.582C>T (p.Leu194=) rs367912069 0.00029
NM_001005361.3(DNM2):c.*10G>A rs200188660 0.00029
NM_001378030.1(CCDC78):c.1053+12G>A rs368223759 0.00029
NM_002469.3(MYF6):c.79G>A (p.Val27Met) rs147184101 0.00029
NM_139343.3(BIN1):c.1385C>T (p.Ser462Leu) rs200580275 0.00029
NM_139343.3(BIN1):c.1674+20G>A rs374227714 0.00029
NM_001005361.3(DNM2):c.2511G>A (p.Arg837=) rs200100669 0.00027
NM_005876.5(SPEG):c.4861C>T (p.Arg1621Cys) rs55646900 0.00027
NM_001005361.3(DNM2):c.*321A>G rs149937994 0.00026
NM_001005361.3(DNM2):c.958G>A (p.Asp320Asn) rs150613209 0.00026
NM_001378030.1(CCDC78):c.861C>T (p.Ser287=) rs375625161 0.00026
NM_001378030.1(CCDC78):c.863G>A (p.Arg288His) rs200154277 0.00026
NM_005876.5(SPEG):c.1301G>A (p.Arg434His) rs924342297 0.00025
NM_139343.3(BIN1):c.*418C>T rs779551565 0.00025
NM_001005361.3(DNM2):c.2179C>T (p.His727Tyr) rs142963320 0.00024
NM_005876.5(SPEG):c.4298G>A (p.Arg1433Gln) rs200847303 0.00024
NM_139343.3(BIN1):c.402C>T (p.Pro134=) rs144136512 0.00023
NM_000252.3(MTM1):c.1052A>G (p.Lys351Arg) rs150430628 0.00022
NM_001378030.1(CCDC78):c.866A>T (p.Glu289Val) rs371760552 0.00022
NM_001005361.3(DNM2):c.2567G>A (p.Ser856Asn) rs149825590 0.00021
NM_139343.3(BIN1):c.1131+7C>T rs376590911 0.00021
NM_139343.3(BIN1):c.961G>A (p.Gly321Arg) rs557276019 0.00021
NM_001005361.3(DNM2):c.*79G>A rs550692861 0.00020
NM_001378030.1(CCDC78):c.1053+20G>A rs200002179 0.00020
NM_001378030.1(CCDC78):c.927G>A (p.Arg309=) rs376047604 0.00019
NM_002469.3(MYF6):c.184G>A (p.Val62Ile) rs190471225 0.00019
NM_005876.5(SPEG):c.52C>T (p.Pro18Ser) rs544959269 0.00019
NM_139343.3(BIN1):c.-105G>C rs575072529 0.00019
NM_001005361.3(DNM2):c.882G>A (p.Pro294=) rs144790170 0.00018
NM_139343.3(BIN1):c.1143G>A (p.Pro381=) rs372360787 0.00018
NM_139343.3(BIN1):c.316-19G>A rs369840788 0.00018
NM_000252.3(MTM1):c.867+17A>G rs371239013 0.00017
NM_001378030.1(CCDC78):c.766-9C>T rs199893871 0.00017
NM_001005361.3(DNM2):c.*453C>T rs200104482 0.00016
NM_001378030.1(CCDC78):c.1054-3T>C rs371542042 0.00016
NM_001378030.1(CCDC78):c.268-3C>T rs371386354 0.00016
NM_002469.3(MYF6):c.288A>T (p.Lys96Asn) rs377370090 0.00016
NM_005876.5(SPEG):c.206C>T (p.Thr69Met) rs768017689 0.00016
NM_139343.3(BIN1):c.1003-13C>T rs374490688 0.00016
NM_139343.3(BIN1):c.1138G>A (p.Ala380Thr) rs200887814 0.00016
NM_139343.3(BIN1):c.1480G>A (p.Val494Met) rs144459969 0.00016
NM_001005361.3(DNM2):c.528C>T (p.Pro176=) rs147579870 0.00015
NM_001378030.1(CCDC78):c.1103G>A (p.Gly368Glu) rs145971446 0.00015
NM_001378030.1(CCDC78):c.436G>T (p.Val146Leu) rs148705181 0.00015
NM_005876.5(SPEG):c.8110C>T (p.Arg2704Trp) rs370009561 0.00015
NM_000252.3(MTM1):c.423G>A (p.Ala141=) rs377311110 0.00014
NM_001005361.3(DNM2):c.1423-12G>A rs376753915 0.00014
NM_001005361.3(DNM2):c.822G>A (p.Thr274=) rs201763720 0.00014
NM_001378030.1(CCDC78):c.1275G>A (p.Gln425=) rs760280521 0.00014
NM_139343.3(BIN1):c.1003-11C>G rs759676621 0.00014
NM_139343.3(BIN1):c.1006C>T (p.Arg336Trp) rs76037557 0.00014
NM_139343.3(BIN1):c.681G>A (p.Leu227=) rs199658397 0.00014
NM_001005361.3(DNM2):c.1827C>T (p.Ser609=) rs371412466 0.00013
NM_001378030.1(CCDC78):c.1189C>T (p.Arg397Cys) rs559942514 0.00013
NM_001378030.1(CCDC78):c.472C>T (p.Gln158Ter) rs200825023 0.00013
NM_005876.5(SPEG):c.4759G>A (p.Gly1587Arg) rs200114716 0.00013
NM_005876.5(SPEG):c.7262C>T (p.Pro2421Leu) rs376076241 0.00012
NM_139343.2(BIN1):c.-214T>G rs886054841 0.00012
NM_000252.3(MTM1):c.1701C>T (p.Tyr567=) rs587783806 0.00011
NM_000252.3(MTM1):c.176T>C (p.Ile59Thr) rs782217375 0.00011
NM_001005361.3(DNM2):c.1384A>G (p.Thr462Ala) rs201575500 0.00011
NM_001378030.1(CCDC78):c.109G>A (p.Ala37Thr) rs144624081 0.00011
NM_001378030.1(CCDC78):c.425A>G (p.His142Arg) rs147899031 0.00011
NM_001378030.1(CCDC78):c.811C>T (p.Arg271Trp) rs200865845 0.00011
NM_002469.3(MYF6):c.575A>C (p.Asp192Ala) rs146824657 0.00011
NM_139343.3(BIN1):c.1003-10C>T rs763361398 0.00011
NM_139343.3(BIN1):c.1131+14G>A rs767192904 0.00011
NM_139343.3(BIN1):c.699-13C>T rs373662459 0.00011
NM_139343.3(BIN1):c.775-15C>T rs367719456 0.00011
NM_139343.3(BIN1):c.925G>A (p.Glu309Lys) rs374565677 0.00011
NM_000252.3(MTM1):c.86G>A (p.Arg29Gln) rs782072494 0.00010
NM_000540.3(RYR1):c.10348-6C>G rs193922837 0.00010
NM_001005361.3(DNM2):c.*14C>T rs369529119 0.00010
NM_001378030.1(CCDC78):c.468T>G (p.Asn156Lys) rs370998388 0.00010
NM_001378030.1(CCDC78):c.668G>A (p.Arg223His) rs373278585 0.00010
NM_139343.3(BIN1):c.1047G>A (p.Pro349=) rs148945502 0.00010
NM_139343.3(BIN1):c.857+4C>T rs61748156 0.00010
NM_139343.3(BIN1):c.942C>T (p.His314=) rs370911793 0.00010
NM_001005361.3(DNM2):c.*391C>T rs886054147 0.00009
NM_001005361.3(DNM2):c.2313G>A (p.Pro771=) rs147463138 0.00009
NM_001005361.3(DNM2):c.555C>T (p.Asp185=) rs140788791 0.00009
NM_001005361.3(DNM2):c.633C>T (p.Asp211=) rs200191870 0.00009
NM_001378030.1(CCDC78):c.1214G>A (p.Arg405Gln) rs771507948 0.00009
NM_001378030.1(CCDC78):c.47G>A (p.Arg16Gln) rs117949611 0.00009
NM_139343.3(BIN1):c.*470A>C rs984385783 0.00009
NM_139343.3(BIN1):c.1226C>T (p.Thr409Met) rs754678339 0.00009
NM_139343.3(BIN1):c.1264-5A>C rs541219767 0.00009
NM_139343.3(BIN1):c.636C>T (p.Ala212=) rs201238412 0.00009
NM_139343.3(BIN1):c.805G>A (p.Gly269Ser) rs372072916 0.00009
NM_139343.3(BIN1):c.85-6C>T rs200855894 0.00009
NM_001378030.1(CCDC78):c.104G>A (p.Gly35Asp) rs929692414 0.00008
NM_001378030.1(CCDC78):c.1241C>A (p.Ala414Asp) rs369081589 0.00008
NM_001378030.1(CCDC78):c.642G>A (p.Val214=) rs142353908 0.00008
NM_139343.3(BIN1):c.285C>T (p.Pro95=) rs377467117 0.00008
NM_139343.3(BIN1):c.735C>T (p.Ile245=) rs184358580 0.00008
NM_000252.3(MTM1):c.422C>T (p.Ala141Val) rs140642341 0.00007
NM_001005361.3(DNM2):c.1377C>T (p.Ile459=) rs369345296 0.00007
NM_001378030.1(CCDC78):c.389G>A (p.Arg130Lys) rs375016420 0.00007
NM_001378030.1(CCDC78):c.766-8G>A rs371640942 0.00007
NM_002469.3(MYF6):c.683C>T (p.Ser228Leu) rs201098963 0.00007
NM_139343.3(BIN1):c.1181A>G (p.Asp394Gly) rs375322787 0.00007
NM_139343.3(BIN1):c.1358C>T (p.Pro453Leu) rs753599819 0.00007
NM_139343.3(BIN1):c.1587C>T (p.His529=) rs144458131 0.00007
NM_139343.3(BIN1):c.309C>T (p.Ile103=) rs151288388 0.00007
NM_000252.3(MTM1):c.1455T>C (p.Ala485=) rs141358705 0.00006
NM_000252.3(MTM1):c.1729G>A (p.Ala577Thr) rs148195763 0.00006
NM_000252.3(MTM1):c.481G>A (p.Val161Met) rs782744530 0.00006
NM_000252.3(MTM1):c.700G>C (p.Glu234Gln) rs372053838 0.00006
NM_000540.3(RYR1):c.6891+3G>T rs373333757 0.00006
NM_001005361.3(DNM2):c.*373G>A rs906210543 0.00006
NM_001005361.3(DNM2):c.1558-7C>A rs184310103 0.00006
NM_001005361.3(DNM2):c.2106G>C (p.Ser702=) rs554971107 0.00006
NM_001005361.3(DNM2):c.450A>G (p.Pro150=) rs766121627 0.00006
NM_001077525.3(MTMR14):c.1144C>T (p.Arg382Trp) rs757251437 0.00006
NM_001378030.1(CCDC78):c.1143C>T (p.Asp381=) rs530313895 0.00006
NM_001378030.1(CCDC78):c.180+9G>A rs374903815 0.00006
NM_001378030.1(CCDC78):c.432C>G (p.Phe144Leu) rs144640928 0.00006
NM_001378030.1(CCDC78):c.554C>T (p.Thr185Met) rs142129985 0.00006
NM_001378030.1(CCDC78):c.620G>A (p.Arg207Gln) rs368147684 0.00006
NM_001378030.1(CCDC78):c.832C>T (p.Leu278=) rs201042133 0.00006
NM_001378030.1(CCDC78):c.856C>T (p.Arg286Cys) rs540243094 0.00006
NM_005876.5(SPEG):c.4883C>T (p.Ala1628Val) rs199971371 0.00006
NM_005876.5(SPEG):c.4927C>T (p.Arg1643Cys) rs570861370 0.00006
NM_139343.3(BIN1):c.*1C>T rs770804438 0.00006
NM_139343.3(BIN1):c.-163T>C rs560690864 0.00006
NM_139343.3(BIN1):c.1196C>T (p.Pro399Leu) rs558530329 0.00006
NM_139343.3(BIN1):c.1205C>T (p.Thr402Met) rs747660857 0.00006
NM_139343.3(BIN1):c.1353C>T (p.Ala451=) rs552244334 0.00006
NM_139343.3(BIN1):c.1359G>A (p.Pro453=) rs201397427 0.00006
NM_139343.3(BIN1):c.1439C>T (p.Thr480Met) rs780918654 0.00006
NM_139343.3(BIN1):c.1462-3C>T rs200384643 0.00006
NM_139343.3(BIN1):c.1479C>T (p.Val493=) rs773313892 0.00006
NM_139343.3(BIN1):c.327G>A (p.Leu109=) rs920170949 0.00006
NM_139343.3(BIN1):c.791A>G (p.Asn264Ser) rs766319258 0.00006
NM_139343.3(BIN1):c.822C>T (p.His274=) rs368730077 0.00006
NM_139343.3(BIN1):c.915C>T (p.Ala305=) rs761585447 0.00006
NM_000252.3(MTM1):c.1376A>G (p.Asn459Ser) rs587783785 0.00005
NM_000252.3(MTM1):c.1793A>G (p.His598Arg) rs201373390 0.00005
NM_000252.3(MTM1):c.232-7A>G rs373045797 0.00005
NM_000252.3(MTM1):c.285A>G (p.Lys95=) rs1292849674 0.00005
NM_000252.3(MTM1):c.38C>T (p.Ser13Phe) rs144473998 0.00005
NM_000252.3(MTM1):c.546T>C (p.His182=) rs782217349 0.00005
NM_000252.3(MTM1):c.620G>A (p.Arg207His) rs187357952 0.00005
NM_000252.3(MTM1):c.755A>G (p.Lys252Arg) rs782740989 0.00005
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp) rs118192173 0.00005
NM_001378030.1(CCDC78):c.1276G>A (p.Glu426Lys) rs374749282 0.00005
NM_001378030.1(CCDC78):c.612C>T (p.Ala204=) rs765213341 0.00005
NM_001378030.1(CCDC78):c.683A>C (p.Glu228Ala) rs749951287 0.00005
NM_001378030.1(CCDC78):c.711G>C (p.Lys237Asn) rs143439721 0.00005
NM_001378030.1(CCDC78):c.730G>A (p.Val244Ile) rs752077571 0.00005
NM_002469.3(MYF6):c.172G>A (p.Gly58Arg) rs578239628 0.00005
NM_139343.3(BIN1):c.1131+9C>T rs138606879 0.00005
NM_139343.3(BIN1):c.1132-6_1132-4dup rs765093741 0.00005
NM_139343.3(BIN1):c.1442C>T (p.Ala481Val) rs140410496 0.00005
NM_139343.3(BIN1):c.1525G>A (p.Gly509Ser) rs745758782 0.00005
NM_139343.3(BIN1):c.1741C>T (p.Arg581Cys) rs147655157 0.00005
NM_139343.3(BIN1):c.52G>A (p.Val18Met) rs566597765 0.00005
NM_139343.3(BIN1):c.924C>T (p.Pro308=) rs367611371 0.00005
NM_000079.4(CHRNA1):c.1321G>A (p.Gly441Arg) rs768407867 0.00004
NM_000252.3(MTM1):c.1196G>A (p.Ser399Asn) rs782295697 0.00004
NM_000252.3(MTM1):c.1383A>G (p.Gln461=) rs782410861 0.00004
NM_000252.3(MTM1):c.1695C>T (p.Asp565=) rs140744506 0.00004
NM_000252.3(MTM1):c.230C>T (p.Thr77Met) rs782640338 0.00004
NM_000252.3(MTM1):c.66G>A (p.Thr22=) rs781793926 0.00004
NM_000252.3(MTM1):c.710C>T (p.Thr237Met) rs375590163 0.00004
NM_000252.3(MTM1):c.868-9G>T rs782148583 0.00004
NM_001005361.3(DNM2):c.-116C>T rs966672075 0.00004
NM_001005361.3(DNM2):c.2418G>A (p.Ala806=) rs200968756 0.00004
NM_001005361.3(DNM2):c.497G>A (p.Arg166Gln) rs200002469 0.00004
NM_001267550.2(TTN):c.34930+2T>C rs749252830 0.00004
NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter) rs574660186 0.00004
NM_001378030.1(CCDC78):c.1057G>A (p.Gly353Ser) rs754906673 0.00004
NM_001378030.1(CCDC78):c.1133+7G>A rs374450678 0.00004
NM_001378030.1(CCDC78):c.1177C>T (p.Arg393Trp) rs767496331 0.00004
NM_001378030.1(CCDC78):c.1233G>A (p.Leu411=) rs893572894 0.00004
NM_001378030.1(CCDC78):c.1281C>T (p.Tyr427=) rs142180051 0.00004
NM_001378030.1(CCDC78):c.294G>A (p.Leu98=) rs140303460 0.00004
NM_001378030.1(CCDC78):c.368G>A (p.Arg123Gln) rs201924732 0.00004
NM_001378030.1(CCDC78):c.557G>A (p.Arg186His) rs762337009 0.00004
NM_001378030.1(CCDC78):c.567C>T (p.Thr189=) rs748680465 0.00004
NM_001378030.1(CCDC78):c.729C>T (p.Tyr243=) rs376412009 0.00004
NM_001378030.1(CCDC78):c.751G>A (p.Ala251Thr) rs371030168 0.00004
NM_001378030.1(CCDC78):c.810C>A (p.Leu270=) rs372703744 0.00004
NM_001378030.1(CCDC78):c.812G>A (p.Arg271Gln) rs764422260 0.00004
NM_001378030.1(CCDC78):c.845G>A (p.Arg282Gln) rs201634385 0.00004
NM_001378030.1(CCDC78):c.862C>T (p.Arg288Cys) rs764179609 0.00004
NM_002469.3(MYF6):c.220C>T (p.Pro74Ser) rs996997577 0.00004
NM_005876.5(SPEG):c.5743A>C (p.Ser1915Arg) rs199549168 0.00004
NM_005876.5(SPEG):c.5897G>C (p.Gly1966Ala) rs759849782 0.00004
NM_005876.5(SPEG):c.7876T>C (p.Ser2626Pro) rs200008141 0.00004
NM_005876.5(SPEG):c.9016C>T (p.Arg3006Trp) rs781096883 0.00004
NM_005876.5(SPEG):c.9078C>T (p.His3026=) rs541299207 0.00004
NM_139343.3(BIN1):c.1240-7C>T rs746676469 0.00004
NM_139343.3(BIN1):c.1264-15G>A rs750540849 0.00004
NM_139343.3(BIN1):c.1281C>T (p.Ala427=) rs373834859 0.00004
NM_139343.3(BIN1):c.1308C>T (p.Ser436=) rs760959487 0.00004
NM_139343.3(BIN1):c.1314C>T (p.Ala438=) rs747474627 0.00004
NM_139343.3(BIN1):c.1371+1G>T rs556129959 0.00004
NM_139343.3(BIN1):c.1394C>T (p.Ala465Val) rs751051376 0.00004
NM_139343.3(BIN1):c.1461C>T (p.Ser487=) rs34647988 0.00004
NM_139343.3(BIN1):c.1462-17C>T rs757885823 0.00004
NM_139343.3(BIN1):c.1573-14C>T rs760955602 0.00004
NM_139343.3(BIN1):c.1588G>A (p.Asp530Asn) rs772786604 0.00004
NM_139343.3(BIN1):c.1674+3G>T rs1420732725 0.00004
NM_139343.3(BIN1):c.279T>C (p.Asp93=) rs770994335 0.00004
NM_139343.3(BIN1):c.438G>A (p.Lys146=) rs760028920 0.00004
NM_139343.3(BIN1):c.520-16G>T rs766300039 0.00004
NM_139343.3(BIN1):c.613-9G>T rs1009608542 0.00004
NM_139343.3(BIN1):c.775-13G>C rs778119265 0.00004
NM_139343.3(BIN1):c.839C>T (p.Thr280Met) rs201872255 0.00004
NM_139343.3(BIN1):c.866C>T (p.Ala289Val) rs771112840 0.00004
NM_139343.3(BIN1):c.903T>C (p.Asp301=) rs141588262 0.00004
NM_139343.3(BIN1):c.960C>T (p.Gly320=) rs758286460 0.00004
NM_139343.3(BIN1):c.968C>T (p.Thr323Met) rs763810794 0.00004
NM_139343.3(BIN1):c.972C>T (p.Pro324=) rs537603056 0.00004
NM_000252.3(MTM1):c.1209C>T (p.Phe403=) rs782407568 0.00003
NM_000252.3(MTM1):c.1629C>T (p.Pro543=) rs781856935 0.00003
NM_000252.3(MTM1):c.1779G>A (p.Ser593=) rs782375296 0.00003
NM_000252.3(MTM1):c.445-17T>G rs73250563 0.00003
NM_000252.3(MTM1):c.480C>T (p.Asn160=) rs782480422 0.00003
NM_000252.3(MTM1):c.508G>C (p.Val170Leu) rs782274835 0.00003
NM_000252.3(MTM1):c.55A>C (p.Ile19Leu) rs1408923946 0.00003
NM_000252.3(MTM1):c.64-9T>C rs189752798 0.00003
NM_000252.3(MTM1):c.999A>G (p.Glu333=) rs782302438 0.00003
NM_000540.3(RYR1):c.7093G>A (p.Gly2365Arg) rs761224660 0.00003
NM_001005361.3(DNM2):c.*601C>T rs185820576 0.00003
NM_001005361.3(DNM2):c.1423-9C>G rs371006369 0.00003
NM_001005361.3(DNM2):c.162-9C>A rs200736669 0.00003
NM_001005361.3(DNM2):c.2031G>A (p.Lys677=) rs768285660 0.00003
NM_001005361.3(DNM2):c.750A>G (p.Ala250=) rs202214529 0.00003
NM_001005361.3(DNM2):c.890G>A (p.Arg297His) rs763894364 0.00003
NM_001005361.3(DNM2):c.8A>G (p.Asn3Ser) rs890297188 0.00003
NM_001378030.1(CCDC78):c.1009T>C (p.Leu337=) rs752141177 0.00003
NM_001378030.1(CCDC78):c.1056C>T (p.His352=) rs371958189 0.00003
NM_001378030.1(CCDC78):c.1230G>A (p.Leu410=) rs768794447 0.00003
NM_001378030.1(CCDC78):c.1237C>T (p.Arg413Trp) rs780967551 0.00003
NM_001378030.1(CCDC78):c.1248G>A (p.Met416Ile) rs1045075829 0.00003
NM_001378030.1(CCDC78):c.165G>T (p.Lys55Asn) rs371931071 0.00003
NM_001378030.1(CCDC78):c.267+10C>T rs199497862 0.00003
NM_001378030.1(CCDC78):c.341C>T (p.Pro114Leu) rs749051279 0.00003
NM_001378030.1(CCDC78):c.364C>T (p.Pro122Ser) rs756781117 0.00003
NM_001378030.1(CCDC78):c.367C>T (p.Arg123Trp) rs144406163 0.00003
NM_001378030.1(CCDC78):c.502G>A (p.Glu168Lys) rs777794522 0.00003
NM_001378030.1(CCDC78):c.666C>G (p.Leu222=) rs778705590 0.00003
NM_001378030.1(CCDC78):c.70C>T (p.Arg24Ter) rs887921636 0.00003
NM_001378030.1(CCDC78):c.880C>T (p.Arg294Trp) rs772096201 0.00003
NM_001378030.1(CCDC78):c.884C>A (p.Ala295Asp) rs1418782154 0.00003
NM_001378030.1(CCDC78):c.890G>A (p.Arg297His) rs768251031 0.00003
NM_005876.5(SPEG):c.418G>A (p.Asp140Asn) rs202151661 0.00003
NM_139343.3(BIN1):c.-62G>A rs886054836 0.00003
NM_139343.3(BIN1):c.1003-16C>T rs547659375 0.00003
NM_139343.3(BIN1):c.1142C>T (p.Pro381Leu) rs794727107 0.00003
NM_139343.3(BIN1):c.1154C>T (p.Ser385Leu) rs368616652 0.00003
NM_139343.3(BIN1):c.1197G>A (p.Pro399=) rs370728071 0.00003
NM_139343.3(BIN1):c.1282G>A (p.Gly428Ser) rs200124094 0.00003
NM_139343.3(BIN1):c.1328C>G (p.Ala443Gly) rs758494519 0.00003
NM_139343.3(BIN1):c.1460C>G (p.Ser487Cys) rs1342661066 0.00003
NM_139343.3(BIN1):c.1473T>C (p.Pro491=) rs779756862 0.00003
NM_139343.3(BIN1):c.1710C>G (p.Asp570Glu) rs587783342 0.00003
NM_139343.3(BIN1):c.286G>A (p.Gly96Ser) rs769724273 0.00003
NM_139343.3(BIN1):c.450C>T (p.Tyr150=) rs550177667 0.00003
NM_139343.3(BIN1):c.520-6C>T rs367953762 0.00003
NM_139343.3(BIN1):c.544G>A (p.Ala182Thr) rs779607755 0.00003
NM_139343.3(BIN1):c.615C>T (p.Ala205=) rs748308882 0.00003
NM_139343.3(BIN1):c.675G>A (p.Glu225=) rs148179522 0.00003
NM_139343.3(BIN1):c.698+9C>T rs763703697 0.00003
NM_139343.3(BIN1):c.823G>A (p.Gly275Arg) rs771506242 0.00003
NM_139343.3(BIN1):c.867G>A (p.Ala289=) rs201839857 0.00003
NM_139343.3(BIN1):c.920C>G (p.Thr307Ser) rs199551366 0.00003
NM_000252.3(MTM1):c.1077A>G (p.Gln359=) rs1299457466 0.00002
NM_000252.3(MTM1):c.1188C>T (p.Phe396=) rs370366538 0.00002
NM_000252.3(MTM1):c.1560A>G (p.Arg520=) rs138946055 0.00002
NM_000252.3(MTM1):c.1645-8C>T rs782348896 0.00002
NM_000252.3(MTM1):c.1692C>T (p.Arg564=) rs1557415136 0.00002
NM_000252.3(MTM1):c.1702A>G (p.Ile568Val) rs587783807 0.00002
NM_000252.3(MTM1):c.1724A>G (p.Gln575Arg) rs1347335331 0.00002
NM_000252.3(MTM1):c.1758A>G (p.Pro586=) rs1454805516 0.00002
NM_000252.3(MTM1):c.175A>G (p.Ile59Val) rs782451760 0.00002
NM_000252.3(MTM1):c.206G>A (p.Arg69His) rs782277980 0.00002
NM_000252.3(MTM1):c.233A>T (p.Asp78Val) rs782215492 0.00002
NM_000252.3(MTM1):c.278T>C (p.Ile93Thr) rs199821243 0.00002
NM_000252.3(MTM1):c.297G>A (p.Ala99=) rs781784303 0.00002
NM_000252.3(MTM1):c.51G>A (p.Glu17=) rs148455726 0.00002
NM_000252.3(MTM1):c.528+7T>C rs782460237 0.00002
NM_000252.3(MTM1):c.741C>T (p.Val247=) rs374360983 0.00002
NM_000252.3(MTM1):c.813T>C (p.Ile271=) rs1224173755 0.00002
NM_000540.3(RYR1):c.3877C>A (p.Pro1293Thr) rs146407179 0.00002
NM_000540.3(RYR1):c.6860C>A (p.Ala2287Asp) rs761154999 0.00002
NM_000540.3(RYR1):c.9892G>A (p.Ala3298Thr) rs544339193 0.00002
NM_001005361.3(DNM2):c.1196+710G>A rs140208362 0.00002
NM_001005361.3(DNM2):c.1552A>C (p.Ile518Leu) rs753402698 0.00002
NM_001005361.3(DNM2):c.1671+14G>A rs767768534 0.00002
NM_001077525.3(MTMR14):c.1790G>A (p.Arg597Gln) rs757795544 0.00002
NM_001198800.3(ASCC1):c.328C>T (p.Arg110Ter) rs866050664 0.00002
NM_001378030.1(CCDC78):c.1014C>T (p.Pro338=) rs764805299 0.00002
NM_001378030.1(CCDC78):c.1053+13A>G rs769940521 0.00002
NM_001378030.1(CCDC78):c.1059C>T (p.Gly353=) rs773310049 0.00002
NM_001378030.1(CCDC78):c.1133+16G>T rs778741526 0.00002
NM_001378030.1(CCDC78):c.1196C>T (p.Thr399Ile) rs775067488 0.00002
NM_001378030.1(CCDC78):c.1278G>A (p.Glu426=) rs773837439 0.00002
NM_001378030.1(CCDC78):c.141C>T (p.Val47=) rs765250833 0.00002
NM_001378030.1(CCDC78):c.155C>T (p.Ala52Val) rs1432121366 0.00002
NM_001378030.1(CCDC78):c.180+20G>A rs753155679 0.00002
NM_001378030.1(CCDC78):c.181-14C>T rs776154471 0.00002
NM_001378030.1(CCDC78):c.246A>C (p.Glu82Asp) rs201503907 0.00002
NM_001378030.1(CCDC78):c.29G>A (p.Arg10Lys) rs893873268 0.00002
NM_001378030.1(CCDC78):c.303G>A (p.Glu101=) rs1391537464 0.00002
NM_001378030.1(CCDC78):c.348G>A (p.Glu116=) rs755948173 0.00002
NM_001378030.1(CCDC78):c.365C>T (p.Pro122Leu) rs745392382 0.00002
NM_001378030.1(CCDC78):c.435+19A>C rs199988256 0.00002
NM_001378030.1(CCDC78):c.535C>T (p.Arg179Trp) rs758399024 0.00002
NM_001378030.1(CCDC78):c.574C>T (p.Arg192Trp) rs754019798 0.00002
NM_001378030.1(CCDC78):c.593G>A (p.Arg198Gln) rs763959604 0.00002
NM_001378030.1(CCDC78):c.61-1G>A rs1006891646 0.00002
NM_001378030.1(CCDC78):c.613G>A (p.Gly205Arg) rs759028646 0.00002
NM_001378030.1(CCDC78):c.61G>A (p.Val21Ile) rs757617074 0.00002
NM_001378030.1(CCDC78):c.721G>A (p.Asp241Asn) rs370899425 0.00002
NM_001378030.1(CCDC78):c.765+9T>C rs765738306 0.00002
NM_001378030.1(CCDC78):c.842T>A (p.Ile281Asn) rs1037631909 0.00002
NM_001378030.1(CCDC78):c.857G>A (p.Arg286His) rs750889592 0.00002
NM_001378030.1(CCDC78):c.874del (p.Leu292fs) rs746756519 0.00002
NM_001378030.1(CCDC78):c.931G>T (p.Glu311Ter) rs2040614414 0.00002
NM_002469.3(MYF6):c.281G>A (p.Arg94Gln) rs201273759 0.00002
NM_002469.3(MYF6):c.331G>C (p.Glu111Gln) rs773695133 0.00002
NM_002469.3(MYF6):c.355C>A (p.Arg119=) rs766453673 0.00002
NM_002469.3(MYF6):c.623T>C (p.Ile208Thr) rs766941896 0.00002
NM_139343.3(BIN1):c.*301C>T rs886054830 0.00002
NM_139343.3(BIN1):c.1083G>A (p.Leu361=) rs543438812 0.00002
NM_139343.3(BIN1):c.1264-8G>A rs776696908 0.00002
NM_139343.3(BIN1):c.1265C>T (p.Pro422Leu) rs760559539 0.00002
NM_139343.3(BIN1):c.1412C>T (p.Ala471Val) rs746346952 0.00002
NM_139343.3(BIN1):c.1440G>A (p.Thr480=) rs754900286 0.00002
NM_139343.3(BIN1):c.1462-16G>A rs372302632 0.00002
NM_139343.3(BIN1):c.1464C>T (p.Ser488=) rs759941022 0.00002
NM_139343.3(BIN1):c.1530T>C (p.Ser510=) rs778580743 0.00002
NM_139343.3(BIN1):c.1534G>A (p.Ala512Thr) rs756816560 0.00002
NM_139343.3(BIN1):c.1541G>A (p.Arg514His) rs766615886 0.00002
NM_139343.3(BIN1):c.1548C>T (p.Asp516=) rs750869889 0.00002
NM_139343.3(BIN1):c.1607C>A (p.Thr536Lys) rs773732601 0.00002
NM_139343.3(BIN1):c.1729C>G (p.Leu577Val) rs771368114 0.00002
NM_139343.3(BIN1):c.1756G>A (p.Glu586Lys) rs1042277527 0.00002
NM_139343.3(BIN1):c.220+18C>T rs761189061 0.00002
NM_139343.3(BIN1):c.277G>T (p.Asp93Tyr) rs774273606 0.00002
NM_139343.3(BIN1):c.321C>T (p.Asn107=) rs529323298 0.00002
NM_139343.3(BIN1):c.393C>T (p.Gly131=) rs1455926606 0.00002
NM_139343.3(BIN1):c.613-14G>A rs770168243 0.00002
NM_139343.3(BIN1):c.661G>A (p.Val221Met) rs573529529 0.00002
NM_139343.3(BIN1):c.775-3C>T rs373768625 0.00002
NM_000252.3(MTM1):c.1008T>C (p.His336=) rs1557414128 0.00001
NM_000252.3(MTM1):c.1080A>G (p.Val360=) rs782202285 0.00001
NM_000252.3(MTM1):c.109C>T (p.Arg37Ter) rs587783753 0.00001
NM_000252.3(MTM1):c.111A>G (p.Arg37=) rs2038979283 0.00001
NM_000252.3(MTM1):c.1131C>T (p.Asp377=) rs1557414507 0.00001
NM_000252.3(MTM1):c.1194G>A (p.Arg398=) rs1557414516 0.00001
NM_000252.3(MTM1):c.1213A>G (p.Ile405Val) rs373788741 0.00001
NM_000252.3(MTM1):c.1260+7A>T rs782771099 0.00001
NM_000252.3(MTM1):c.1261-6A>G rs781856399 0.00001
NM_000252.3(MTM1):c.1261C>T (p.Arg421Ter) rs587783771 0.00001
NM_000252.3(MTM1):c.126A>G (p.Thr42=) rs782801257 0.00001
NM_000252.3(MTM1):c.1290C>T (p.Thr430=) rs374725419 0.00001
NM_000252.3(MTM1):c.1300C>T (p.Arg434Cys) rs782664128 0.00001
NM_000252.3(MTM1):c.1353+7A>C rs782203723 0.00001
NM_000252.3(MTM1):c.1354-6G>A rs1235590737 0.00001
NM_000252.3(MTM1):c.136+10T>G rs782382879 0.00001
NM_000252.3(MTM1):c.136+7A>T rs782025629 0.00001
NM_000252.3(MTM1):c.1454C>T (p.Ala485Val) rs782137551 0.00001
NM_000252.3(MTM1):c.1457G>A (p.Arg486Gln) rs782032230 0.00001
NM_000252.3(MTM1):c.1468-10C>T rs782174623 0.00001
NM_000252.3(MTM1):c.1561G>A (p.Val521Ile) rs782705509 0.00001
NM_000252.3(MTM1):c.1678C>T (p.Leu560Phe) rs1557415135 0.00001
NM_000252.3(MTM1):c.1709G>A (p.Arg570Gln) rs782469735 0.00001
NM_000252.3(MTM1):c.1719A>G (p.Glu573=) rs1557415144 0.00001
NM_000252.3(MTM1):c.1740C>G (p.Ala580=) rs782365703 0.00001
NM_000252.3(MTM1):c.231+10A>G rs1231679121 0.00001
NM_000252.3(MTM1):c.258T>C (p.Pro86=) rs782702345 0.00001
NM_000252.3(MTM1):c.272C>T (p.Ser91Leu) rs782148152 0.00001
NM_000252.3(MTM1):c.420C>T (p.Tyr140=) rs587783825 0.00001
NM_000252.3(MTM1):c.426T>C (p.Phe142=) rs1443261976 0.00001
NM_000252.3(MTM1):c.444+16C>G rs1057523163 0.00001
NM_000252.3(MTM1):c.447A>G (p.Pro149=) rs782149231 0.00001
NM_000252.3(MTM1):c.539A>G (p.Asn180Ser) rs781995404 0.00001
NM_000252.3(MTM1):c.570G>A (p.Lys190=) rs782411810 0.00001
NM_000252.3(MTM1):c.603T>C (p.Leu201=) rs1557413854 0.00001
NM_000252.3(MTM1):c.646G>A (p.Val216Ile) rs782156492 0.00001
NM_000252.3(MTM1):c.65C>T (p.Thr22Met) rs781886721 0.00001
NM_000252.3(MTM1):c.681G>C (p.Val227=) rs1557413955 0.00001
NM_000252.3(MTM1):c.783C>T (p.Leu261=) rs187394611 0.00001
NM_000252.3(MTM1):c.788T>G (p.Val263Gly) rs782573475 0.00001
NM_000252.3(MTM1):c.867+4A>T rs1322584849 0.00001
NM_000252.3(MTM1):c.867+8G>A rs782431909 0.00001
NM_000252.3(MTM1):c.868-9del rs1372652199 0.00001
NM_000252.3(MTM1):c.885T>C (p.Tyr295=) rs1017890631 0.00001
NM_000252.3(MTM1):c.909C>T (p.Asn303=) rs199984259 0.00001
NM_000252.3(MTM1):c.911C>T (p.Ala304Val) rs781871854 0.00001
NM_000252.3(MTM1):c.931A>G (p.Ile311Val) rs782444216 0.00001
NM_000252.3(MTM1):c.945T>C (p.His315=) rs376178048 0.00001
NM_000252.3(MTM1):c.953G>A (p.Arg318Gln) rs782462553 0.00001
NM_000252.3(MTM1):c.954G>C (p.Arg318=) rs1557414126 0.00001
NM_000540.3(RYR1):c.11590+1G>T rs113928116 0.00001
NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln) rs118192130 0.00001
NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile) rs118192168 0.00001
NM_000540.3(RYR1):c.14939C>T (p.Thr4980Met) rs398123471 0.00001
NM_000540.3(RYR1):c.3223C>T (p.Arg1075Trp) rs573649990 0.00001
NM_000540.3(RYR1):c.3224G>A (p.Arg1075Gln) rs749040743 0.00001
NM_000540.3(RYR1):c.3523G>A (p.Glu1175Lys) rs769744438 0.00001
NM_000540.3(RYR1):c.6823G>A (p.Val2275Met) rs756847750 0.00001
NM_000540.3(RYR1):c.7027G>A (p.Gly2343Ser) rs536596969 0.00001
NM_000540.3(RYR1):c.8888T>C (p.Leu2963Pro) rs756870293 0.00001
NM_001005361.3(DNM2):c.*106T>C rs886054144 0.00001
NM_001005361.3(DNM2):c.*214C>T rs1271831719 0.00001
NM_001005361.3(DNM2):c.-153G>T rs886054138 0.00001
NM_001005361.3(DNM2):c.1105C>T (p.Arg369Trp) rs121909090 0.00001
NM_001005361.3(DNM2):c.1400G>A (p.Arg467Gln) rs776126973 0.00001
NM_001005361.3(DNM2):c.1418A>T (p.Asp473Val) rs766613900 0.00001
NM_001005361.3(DNM2):c.1511C>T (p.Thr504Met) rs759366882 0.00001
NM_001005361.3(DNM2):c.1512G>A (p.Thr504=) rs767407905 0.00001
NM_001005361.3(DNM2):c.162-6del rs766449694 0.00001
NM_001005361.3(DNM2):c.1772C>T (p.Thr591Met) rs372876881 0.00001
NM_001005361.3(DNM2):c.1773G>A (p.Thr591=) rs201604679 0.00001
NM_001005361.3(DNM2):c.1782-6C>T rs963604980 0.00001
NM_001005361.3(DNM2):c.1962G>A (p.Glu654=) rs746025991 0.00001
NM_001005361.3(DNM2):c.2411T>C (p.Phe804Ser) rs1237677745 0.00001
NM_001005361.3(DNM2):c.2414C>T (p.Ser805Leu) rs779081943 0.00001
NM_001005361.3(DNM2):c.2560G>T (p.Ala854Ser) rs886054141 0.00001
NM_001005361.3(DNM2):c.654C>T (p.Asp218=) rs763948283 0.00001
NM_001005361.3(DNM2):c.808G>A (p.Asp270Asn) rs1217925152 0.00001
NM_001077525.3(MTMR14):c.1390G>A (p.Ala464Thr) rs756932434 0.00001
NM_001110556.2(FLNA):c.1823C>T (p.Thr608Met) rs1603362434 0.00001
NM_001267550.2(TTN):c.21961G>A (p.Glu7321Lys) rs2078691261 0.00001
NM_001267550.2(TTN):c.35828dup (p.Glu11945Argfs) rs765879488 0.00001
NM_001267550.2(TTN):c.52021C>T (p.Arg17341Ter) rs926741242 0.00001
NM_001378030.1(CCDC78):c.1020C>T (p.Pro340=) rs1319236751 0.00001
NM_001378030.1(CCDC78):c.102G>C (p.Gly34=) rs558680404 0.00001
NM_001378030.1(CCDC78):c.1039C>T (p.His347Tyr) rs369908634 0.00001
NM_001378030.1(CCDC78):c.1052A>G (p.Gln351Arg) rs371921917 0.00001
NM_001378030.1(CCDC78):c.1054-14A>G rs575159946 0.00001
NM_001378030.1(CCDC78):c.1054-9C>G rs781457535 0.00001
NM_001378030.1(CCDC78):c.1060G>A (p.Gly354Arg) rs199867890 0.00001
NM_001378030.1(CCDC78):c.1083C>T (p.Ser361=) rs763378541 0.00001
NM_001378030.1(CCDC78):c.1112del (p.Gln371fs) rs765483630 0.00001
NM_001378030.1(CCDC78):c.1124C>G (p.Ser375Ter) rs1475409165 0.00001
NM_001378030.1(CCDC78):c.1133+13A>G rs747939934 0.00001
NM_001378030.1(CCDC78):c.1134-15C>G rs766085711 0.00001
NM_001378030.1(CCDC78):c.1136G>A (p.Gly379Asp) rs1296158476 0.00001
NM_001378030.1(CCDC78):c.1178G>A (p.Arg393Gln) rs376513788 0.00001
NM_001378030.1(CCDC78):c.1200+12G>A rs746266109 0.00001
NM_001378030.1(CCDC78):c.1201-11C>A rs894597785 0.00001
NM_001378030.1(CCDC78):c.1201-1G>C rs763586611 0.00001
NM_001378030.1(CCDC78):c.1247T>C (p.Met416Thr) rs1180613590 0.00001
NM_001378030.1(CCDC78):c.1299C>A (p.Gly433=) rs1482540009 0.00001
NM_001378030.1(CCDC78):c.1301+10G>A rs758288338 0.00001
NM_001378030.1(CCDC78):c.1302-10C>T rs1233846202 0.00001
NM_001378030.1(CCDC78):c.1302-1G>C rs764699064 0.00001
NM_001378030.1(CCDC78):c.151C>G (p.Leu51Val) rs1064794620 0.00001
NM_001378030.1(CCDC78):c.169C>A (p.Gln57Lys) rs1180264424 0.00001
NM_001378030.1(CCDC78):c.198C>T (p.Val66=) rs753929100 0.00001
NM_001378030.1(CCDC78):c.1A>G (p.Met1Val) rs768740042 0.00001
NM_001378030.1(CCDC78):c.211A>G (p.Thr71Ala) rs750616701 0.00001
NM_001378030.1(CCDC78):c.217C>T (p.His73Tyr) rs1477528084 0.00001
NM_001378030.1(CCDC78):c.238G>A (p.Glu80Lys) rs549450998 0.00001
NM_001378030.1(CCDC78):c.240G>A (p.Glu80=) rs1366295901 0.00001
NM_001378030.1(CCDC78):c.247A>G (p.Ile83Val) rs558878970 0.00001
NM_001378030.1(CCDC78):c.256C>G (p.Leu86Val) rs748438652 0.00001
NM_001378030.1(CCDC78):c.267+3G>A rs749827376 0.00001
NM_001378030.1(CCDC78):c.268-19C>A rs1396117099 0.00001
NM_001378030.1(CCDC78):c.286C>T (p.Arg96Trp) rs767068294 0.00001
NM_001378030.1(CCDC78):c.28A>G (p.Arg10Gly) rs769964986 0.00001
NM_001378030.1(CCDC78):c.307C>T (p.Arg103Ter) rs776512977 0.00001
NM_001378030.1(CCDC78):c.327G>C (p.Gln109His) rs1246634377 0.00001
NM_001378030.1(CCDC78):c.328G>T (p.Gly110Cys) rs777956994 0.00001
NM_001378030.1(CCDC78):c.330C>T (p.Gly110=) rs1196046646 0.00001
NM_001378030.1(CCDC78):c.344T>C (p.Val115Ala) rs779855089 0.00001
NM_001378030.1(CCDC78):c.34G>T (p.Gly12Ter) rs1014643433 0.00001
NM_001378030.1(CCDC78):c.40C>T (p.Pro14Ser) rs2040942356 0.00001
NM_001378030.1(CCDC78):c.433C>T (p.Gln145Ter) rs745710346 0.00001
NM_001378030.1(CCDC78):c.435+13A>G rs966308561 0.00001
NM_001378030.1(CCDC78):c.435+7A>G rs751070375 0.00001
NM_001378030.1(CCDC78):c.436-2A>G rs778608633 0.00001
NM_001378030.1(CCDC78):c.462C>T (p.Pro154=) rs199585619 0.00001
NM_001378030.1(CCDC78):c.492+6T>C rs1283039950 0.00001
NM_001378030.1(CCDC78):c.493-8C>T rs1455612703 0.00001
NM_001378030.1(CCDC78):c.509A>T (p.Lys170Met) rs1555486210 0.00001
NM_001378030.1(CCDC78):c.51G>A (p.Arg17=) rs949623191 0.00001
NM_001378030.1(CCDC78):c.536G>A (p.Arg179Gln) rs560987339 0.00001
NM_001378030.1(CCDC78):c.552G>A (p.Val184=) rs528171965 0.00001
NM_001378030.1(CCDC78):c.560+11A>G rs745530216 0.00001
NM_001378030.1(CCDC78):c.561-9T>C rs1294551214 0.00001
NM_001378030.1(CCDC78):c.61-14C>T rs750092405 0.00001
NM_001378030.1(CCDC78):c.61-4C>A rs1227878128 0.00001
NM_001378030.1(CCDC78):c.628A>T (p.Thr210Ser) rs375138705 0.00001
NM_001378030.1(CCDC78):c.640-11T>G rs375444284 0.00001
NM_001378030.1(CCDC78):c.640-13G>A rs775362271 0.00001
NM_001378030.1(CCDC78):c.658G>A (p.Gly220Ser) rs1374522692 0.00001
NM_001378030.1(CCDC78):c.707T>C (p.Leu236Pro) rs1352546137 0.00001
NM_001378030.1(CCDC78):c.736C>G (p.Arg246Gly) rs749095737 0.00001
NM_001378030.1(CCDC78):c.760G>A (p.Ala254Thr) rs1338935088 0.00001
NM_001378030.1(CCDC78):c.763G>A (p.Val255Met) rs763349441 0.00001
NM_001378030.1(CCDC78):c.763_765+5del rs1406110108 0.00001
NM_001378030.1(CCDC78):c.765+19C>T rs760813011 0.00001
NM_001378030.1(CCDC78):c.765+7C>A rs1158312264 0.00001
NM_001378030.1(CCDC78):c.765+8C>G rs753039480 0.00001
NM_001378030.1(CCDC78):c.767A>G (p.Glu256Gly) rs1374510953 0.00001
NM_001378030.1(CCDC78):c.771C>T (p.His257=) rs747763912 0.00001
NM_001378030.1(CCDC78):c.772G>A (p.Ala258Thr) rs778696812 0.00001
NM_001378030.1(CCDC78):c.804G>A (p.Thr268=) rs767497873 0.00001
NM_001378030.1(CCDC78):c.827C>T (p.Ala276Val) rs562625664 0.00001
NM_001378030.1(CCDC78):c.828G>A (p.Ala276=) rs746959349 0.00001
NM_001378030.1(CCDC78):c.844C>T (p.Arg282Trp) rs747752625 0.00001
NM_001378030.1(CCDC78):c.851C>T (p.Ala284Val) rs749614530 0.00001
NM_001378030.1(CCDC78):c.882G>A (p.Arg294=) rs958395578 0.00001
NM_001378030.1(CCDC78):c.886G>A (p.Ala296Thr) rs1395442564 0.00001
NM_001378030.1(CCDC78):c.910G>C (p.Val304Leu) rs1014754418 0.00001
NM_001378030.1(CCDC78):c.923G>A (p.Arg308His) rs151049173 0.00001
NM_001378030.1(CCDC78):c.930T>G (p.His310Gln) rs750273057 0.00001
NM_001378030.1(CCDC78):c.934G>A (p.Glu312Lys) rs767319981 0.00001
NM_001378030.1(CCDC78):c.973G>C (p.Ala325Pro) rs780197880 0.00001
NM_002469.3(MYF6):c.17T>G (p.Phe6Cys) rs1346404270 0.00001
NM_002469.3(MYF6):c.193C>T (p.Pro65Ser) rs1187510400 0.00001
NM_002469.3(MYF6):c.369C>T (p.Asn123=) rs777383223 0.00001
NM_002469.3(MYF6):c.46G>A (p.Asp16Asn) rs749523828 0.00001
NM_002469.3(MYF6):c.520-3C>T rs1035326012 0.00001
NM_002469.3(MYF6):c.649C>T (p.Arg217Ter) rs779208935 0.00001
NM_002469.3(MYF6):c.91T>C (p.Ser31Pro) rs1443837642 0.00001
NM_005876.5(SPEG):c.1149C>T (p.Arg383=) rs1295142218 0.00001
NM_005876.5(SPEG):c.1612C>T (p.Arg538Trp) rs1381276826 0.00001
NM_005876.5(SPEG):c.2134G>A (p.Val712Met) rs375953839 0.00001
NM_005876.5(SPEG):c.2763G>T (p.Glu921Asp) rs956843160 0.00001
NM_005876.5(SPEG):c.3134C>T (p.Thr1045Met) rs62191886 0.00001
NM_005876.5(SPEG):c.3163C>T (p.Arg1055Trp) rs1202116887 0.00001
NM_005876.5(SPEG):c.4129G>A (p.Val1377Met) rs1352203937 0.00001
NM_005876.5(SPEG):c.7442C>T (p.Ser2481Leu) rs1343314943 0.00001
NM_005876.5(SPEG):c.8239C>T (p.Arg2747Cys) rs757903145 0.00001
NM_016653.3(MAP3K20):c.490_491del (p.Met164fs) rs1293675104 0.00001
NM_139343.2(BIN1):c.-272G>A rs886054842 0.00001
NM_139343.3(BIN1):c.*243T>G rs886054831 0.00001
NM_139343.3(BIN1):c.*413G>A rs886054829 0.00001
NM_139343.3(BIN1):c.*449G>A rs369704619 0.00001
NM_139343.3(BIN1):c.1003-6C>A rs1406716458 0.00001
NM_139343.3(BIN1):c.1018C>T (p.Pro340Ser) rs1405949552 0.00001
NM_139343.3(BIN1):c.1029G>A (p.Pro343=) rs1470654878 0.00001
NM_139343.3(BIN1):c.1046C>T (p.Pro349Leu) rs775494528 0.00001
NM_139343.3(BIN1):c.1072A>G (p.Ile358Val) rs1355424178 0.00001
NM_139343.3(BIN1):c.1075C>T (p.Leu359Phe) rs965561469 0.00001
NM_139343.3(BIN1):c.1092C>T (p.Asp364=) rs745647728 0.00001
NM_139343.3(BIN1):c.1094C>T (p.Thr365Met) rs577812854 0.00001
NM_139343.3(BIN1):c.1095G>A (p.Thr365=) rs1401448705 0.00001
NM_139343.3(BIN1):c.1113C>T (p.Ser371=) rs757286408 0.00001
NM_139343.3(BIN1):c.1114G>A (p.Val372Met) rs749198133 0.00001
NM_139343.3(BIN1):c.1119C>T (p.Thr373=) rs1444368852 0.00001
NM_139343.3(BIN1):c.1156G>A (p.Glu386Lys) rs1268978517 0.00001
NM_139343.3(BIN1):c.1188C>T (p.Asp396=) rs1321356771 0.00001
NM_139343.3(BIN1):c.1198C>A (p.Pro400Thr) rs769252326 0.00001
NM_139343.3(BIN1):c.1239+12C>T rs1051734043 0.00001
NM_139343.3(BIN1):c.1240T>G (p.Ser414Ala) rs777951748 0.00001
NM_139343.3(BIN1):c.1263+17C>T rs569766405 0.00001
NM_139343.3(BIN1):c.1271A>G (p.Glu424Gly) rs1468092156 0.00001
NM_139343.3(BIN1):c.1305C>T (p.Pro435=) rs1202386291 0.00001
NM_139343.3(BIN1):c.1322C>T (p.Thr441Ile) rs886054834 0.00001
NM_139343.3(BIN1):c.1371+12C>T rs1015206482 0.00001
NM_139343.3(BIN1):c.1372-7G>T rs777558116 0.00001
NM_139343.3(BIN1):c.1403C>T (p.Thr468Ile) rs769199881 0.00001
NM_139343.3(BIN1):c.141C>T (p.Cys47=) rs747090652 0.00001
NM_139343.3(BIN1):c.1443G>A (p.Ala481=) rs765816262 0.00001
NM_139343.3(BIN1):c.1461+1G>A rs764951306 0.00001
NM_139343.3(BIN1):c.1461+6A>T rs972060066 0.00001
NM_139343.3(BIN1):c.1516G>A (p.Val506Met) rs371571307 0.00001
NM_139343.3(BIN1):c.1536C>T (p.Ala512=) rs753612525 0.00001
NM_139343.3(BIN1):c.1537G>A (p.Gly513Arg) rs777452575 0.00001
NM_139343.3(BIN1):c.1538G>A (p.Gly513Glu) rs755351031 0.00001
NM_139343.3(BIN1):c.1545G>T (p.Leu515Phe) rs763458588 0.00001
NM_139343.3(BIN1):c.1558G>C (p.Gly520Arg) rs765354438 0.00001
NM_139343.3(BIN1):c.155A>G (p.Asn52Ser) rs369549551 0.00001
NM_139343.3(BIN1):c.1608A>G (p.Thr536=) rs746208232 0.00001
NM_139343.3(BIN1):c.1632T>G (p.Gly544=) rs937564049 0.00001
NM_139343.3(BIN1):c.165+6T>C rs763931802 0.00001
NM_139343.3(BIN1):c.166-13C>T rs1182776886 0.00001
NM_139343.3(BIN1):c.1670A>T (p.Glu557Val) rs774321875 0.00001
NM_139343.3(BIN1):c.1675-7C>T rs372449622 0.00001
NM_139343.3(BIN1):c.1691T>C (p.Met564Thr) rs1682474004 0.00001
NM_139343.3(BIN1):c.1696G>A (p.Val566Met) rs761759946 0.00001
NM_139343.3(BIN1):c.1698G>A (p.Val566=) rs1398854153 0.00001
NM_139343.3(BIN1):c.1747G>A (p.Val583Ile) rs759691190 0.00001
NM_139343.3(BIN1):c.1751T>C (p.Phe584Ser) rs1466748456 0.00001
NM_139343.3(BIN1):c.221-8C>T rs750040017 0.00001
NM_139343.3(BIN1):c.228C>T (p.His76=) rs754621895 0.00001
NM_139343.3(BIN1):c.276C>T (p.Pro92=) rs1013293394 0.00001
NM_139343.3(BIN1):c.322G>A (p.Asp108Asn) rs532260569 0.00001
NM_139343.3(BIN1):c.330G>A (p.Leu110=) rs746946704 0.00001
NM_139343.3(BIN1):c.405C>T (p.Asp135=) rs956631103 0.00001
NM_139343.3(BIN1):c.416G>A (p.Arg139His) rs755355125 0.00001
NM_139343.3(BIN1):c.434G>A (p.Arg145His) rs1219115067 0.00001
NM_139343.3(BIN1):c.472G>A (p.Glu158Lys) rs764377144 0.00001
NM_139343.3(BIN1):c.519+4A>G rs1429919147 0.00001
NM_139343.3(BIN1):c.520-3C>A rs1455432609 0.00001
NM_139343.3(BIN1):c.527C>T (p.Ser176Leu) rs776075897 0.00001
NM_139343.3(BIN1):c.546C>T (p.Ala182=) rs147149003 0.00001
NM_139343.3(BIN1):c.550C>G (p.Gln184Glu) rs777940512 0.00001
NM_139343.3(BIN1):c.570G>T (p.Leu190=) rs767620839 0.00001
NM_139343.3(BIN1):c.57G>C (p.Gln19His) rs142657993 0.00001
NM_139343.3(BIN1):c.582C>T (p.Leu194=) rs1319287534 0.00001
NM_139343.3(BIN1):c.604C>T (p.Arg202Ter) rs762897872 0.00001
NM_139343.3(BIN1):c.613-5C>G rs1408065039 0.00001
NM_139343.3(BIN1):c.684G>A (p.Pro228=) rs778962397 0.00001
NM_139343.3(BIN1):c.698+14C>T rs376710764 0.00001
NM_139343.3(BIN1):c.698+15G>A rs535176915 0.00001
NM_139343.3(BIN1):c.699-4G>A rs1389764447 0.00001
NM_139343.3(BIN1):c.699-5T>C rs1573608578 0.00001
NM_139343.3(BIN1):c.700C>T (p.Arg234Cys) rs777176261 0.00001
NM_139343.3(BIN1):c.702C>T (p.Arg234=) rs775573748 0.00001
NM_139343.3(BIN1):c.730A>G (p.Ser244Gly) rs777898974 0.00001
NM_139343.3(BIN1):c.738G>A (p.Ala246=) rs751182086 0.00001
NM_139343.3(BIN1):c.767T>C (p.Met256Thr) rs975404965 0.00001
NM_139343.3(BIN1):c.774+10G>A rs1684774289 0.00001
NM_139343.3(BIN1):c.774+13G>A rs767512096 0.00001
NM_139343.3(BIN1):c.774+9dup rs1196593252 0.00001
NM_139343.3(BIN1):c.784A>C (p.Asn262His) rs1331854784 0.00001
NM_139343.3(BIN1):c.804C>T (p.Val268=) rs761683510 0.00001
NM_139343.3(BIN1):c.84+1G>A rs1364583460 0.00001
NM_139343.3(BIN1):c.85-14C>T rs1191884719 0.00001
NM_139343.3(BIN1):c.85-5G>A rs371593265 0.00001
NM_139343.3(BIN1):c.864C>T (p.Asn288=) rs746393271 0.00001
NM_139343.3(BIN1):c.887G>A (p.Ser296Asn) rs1490772170 0.00001
NM_139343.3(BIN1):c.889C>A (p.Pro297Thr) rs1160778854 0.00001
NM_139343.3(BIN1):c.893C>T (p.Ser298Leu) rs754707833 0.00001
NM_139343.3(BIN1):c.946C>T (p.Pro316Ser) rs748381039 0.00001
NM_139343.3(BIN1):c.952C>T (p.Pro318Ser) rs781377841 0.00001
NM_139343.3(BIN1):c.967A>T (p.Thr323Ser) rs753614814 0.00001
NM_139343.3(BIN1):c.975G>A (p.Gly325=) rs771288492 0.00001
GRCh37/hg19 Xq28(chrX:149761077-149818374)
GRCh38/hg38 Xq28(chrX:150592508-150619237)x0
NC_000002.11:g.(?_127804599)_(127865903_?)del
NC_000002.11:g.(?_127806092)_(127834292_?)dup
NC_000002.11:g.(?_127806102)_(127864519_?)dup
NC_000002.11:g.(?_127806102)_(128432598_?)del
NC_000002.11:g.(?_127815029)_(127864539_?)dup
NC_000002.11:g.(?_127821127)_(127834302_?)dup
NC_000002.11:g.(?_127825719)_(127828412_?)dup
NC_000002.11:g.(?_127834182)_(127864519_?)dup
NC_000002.11:g.(?_127864416)_(127864519_?)dup
NC_000002.12:g.(?_127106850)_(127106953_?)dup
NC_000012.11:g.(?_80128594)_(81102759_?)del
NC_000016.10:g.(?_722760)_(726377_?)dup
NC_000016.9:g.(?_772770)_(776367_?)dup
NC_000023.10:g.(?_149613783)_(149767170_?)del
NC_000023.10:g.(?_149613783)_(149840068_?)del
NC_000023.10:g.(?_149613783)_(149840068_?)dup
NC_000023.10:g.(?_149613783)_(150573536_?)del
NC_000023.10:g.(?_149761067)_(149761149_?)del
NC_000023.10:g.(?_149761067)_(149840078_?)del
NC_000023.10:g.(?_149761067)_(150573540_?)dup
NC_000023.10:g.(?_149761077)_(149787632_?)dup
NC_000023.10:g.(?_149761093)_(149767213_?)del
NC_000023.10:g.(?_149767036)_(149787632_?)del
NC_000023.10:g.(?_149783042)_(149787632_?)del
NC_000023.10:g.(?_149783052)_(149840078_?)dup
NC_000023.10:g.(?_149807406)_(149814354_?)dup
NC_000023.10:g.(?_149818176)_(149818384_?)del
NC_000023.10:g.(?_149826274)_(149826520_?)del
NC_000023.10:g.(?_149826274)_(149840088_?)del
NC_000023.10:g.(?_149826294)_(149826500_?)del
NC_000023.10:g.(?_149831886)_(149840088_?)del
NC_000023.10:g.(?_149831896)_(149832092_?)del
NC_000023.10:g.(?_149839891)_(149840078_?)del
NC_000023.11:g.150649717_150649723del
NC_000023.11:g.150657936T>A rs727504019
NC_000023.11:g.150657994_150657995delinsT rs797045711
NM_000069.3(CACNA1S):c.1189_1190del (p.Ser397fs)
NM_000069.3(CACNA1S):c.2225C>A (p.Pro742Gln)
NM_000069.3(CACNA1S):c.4967del (p.Leu1656fs)
NM_000252.2(MTM1):c.-76_-11del
NM_000252.3(MTM1):c.1008_1009dup (p.Trp337fs) rs2148497926
NM_000252.3(MTM1):c.100del (p.Ala34fs)
NM_000252.3(MTM1):c.1011G>A (p.Trp337Ter)
NM_000252.3(MTM1):c.1015dup (p.Ser339fs) rs797045709
NM_000252.3(MTM1):c.1022T>A (p.Leu341Ter)
NM_000252.3(MTM1):c.102T>C (p.Ala34=)
NM_000252.3(MTM1):c.1036T>C (p.Trp346Arg) rs587783750
NM_000252.3(MTM1):c.1037G>A (p.Trp346Ter) rs781939560
NM_000252.3(MTM1):c.1040T>G (p.Leu347Ter) rs398123264
NM_000252.3(MTM1):c.1045_1046insCCCCT (p.His349fs)
NM_000252.3(MTM1):c.1047T>C (p.His349=)
NM_000252.3(MTM1):c.1049T>C (p.Ile350Thr)
NM_000252.3(MTM1):c.1053+14G>T
NM_000252.3(MTM1):c.1053+1G>A rs587783751
NM_000252.3(MTM1):c.1053+1G>C rs587783751
NM_000252.3(MTM1):c.1053+20dup
NM_000252.3(MTM1):c.1053+5G>A rs1557414132
NM_000252.3(MTM1):c.1053+5G>T rs1557414132
NM_000252.3(MTM1):c.1053+8T>C
NM_000252.3(MTM1):c.1054-15A>G
NM_000252.3(MTM1):c.1054-18C>G
NM_000252.3(MTM1):c.1054-4T>C
NM_000252.3(MTM1):c.1054-5G>C rs398123265
NM_000252.3(MTM1):c.1054-6dup
NM_000252.3(MTM1):c.1054-9_1054-6del rs782691958
NM_000252.3(MTM1):c.1056C>T (p.Leu352=) rs1216921434
NM_000252.3(MTM1):c.1057_1058insACGA (p.Val353fs)
NM_000252.3(MTM1):c.1062G>A (p.Leu354=) rs1603204575
NM_000252.3(MTM1):c.1065A>G (p.Thr355=) rs1603204585
NM_000252.3(MTM1):c.1084G>C (p.Asp362His) rs2148508579
NM_000252.3(MTM1):c.1086C>T (p.Asp362=) rs2148508590
NM_000252.3(MTM1):c.1088_1089del (p.Lys363fs) rs587783752
NM_000252.3(MTM1):c.1089dup (p.Val364fs) rs587783752
NM_000252.3(MTM1):c.1107T>A (p.Ser369Arg) rs2148508637
NM_000252.3(MTM1):c.1116del (p.Val373fs)
NM_000252.3(MTM1):c.1119G>A (p.Val373=) rs941979306
NM_000252.3(MTM1):c.1120C>G (p.His374Asp) rs587783754
NM_000252.3(MTM1):c.1122T>C (p.His374=) rs2040150089
NM_000252.3(MTM1):c.1132G>A (p.Gly378Arg) rs587783755
NM_000252.3(MTM1):c.1132G>T (p.Gly378Ter) rs587783755
NM_000252.3(MTM1):c.1133G>T (p.Gly378Val) rs2040150416
NM_000252.3(MTM1):c.1136G>A (p.Trp379Ter) rs587783756
NM_000252.3(MTM1):c.1137G>A (p.Trp379Ter) rs587783757
NM_000252.3(MTM1):c.1139A>T (p.Asp380Val) rs587783758
NM_000252.3(MTM1):c.1149T>C (p.Ala383=)
NM_000252.3(MTM1):c.114del (p.Pro39fs)
NM_000252.3(MTM1):c.1153C>T (p.Leu385=)
NM_000252.3(MTM1):c.1153_1156delinsTGT (p.Leu385fs)
NM_000252.3(MTM1):c.1158A>G (p.Thr386=)
NM_000252.3(MTM1):c.1160C>A (p.Ser387Tyr) rs587783759
NM_000252.3(MTM1):c.116del (p.Pro39fs) rs2038979352
NM_000252.3(MTM1):c.1178dup (p.Leu393fs) rs1557414513
NM_000252.3(MTM1):c.1179G>A (p.Leu393=)
NM_000252.3(MTM1):c.1180G>C (p.Asp394His) rs587783760
NM_000252.3(MTM1):c.1184G>A (p.Ser395Asn) rs2040151430
NM_000252.3(MTM1):c.1190A>G (p.Tyr397Cys) rs132630303
NM_000252.3(MTM1):c.1191T>G (p.Tyr397Ter) rs587783761
NM_000252.3(MTM1):c.1195_1199delinsTGC (p.Ser399fs)
NM_000252.3(MTM1):c.1201G>T (p.Glu401Ter) rs2040152185
NM_000252.3(MTM1):c.1204G>A (p.Gly402Arg) rs1569565525
NM_000252.3(MTM1):c.1205G>C (p.Gly402Ala) rs587783762
NM_000252.3(MTM1):c.1205G>T (p.Gly402Val)
NM_000252.3(MTM1):c.1210G>A (p.Glu404Lys) rs781933660
NM_000252.3(MTM1):c.1212A>C (p.Glu404Asp) rs2040152678
NM_000252.3(MTM1):c.1225A>G (p.Lys409Glu) rs1569565526
NM_000252.3(MTM1):c.1232G>A (p.Trp411Ter) rs587783763
NM_000252.3(MTM1):c.1233G>T (p.Trp411Cys) rs587783764
NM_000252.3(MTM1):c.1234A>C (p.Ile412Leu)
NM_000252.3(MTM1):c.1234A>G (p.Ile412Val) rs587783765
NM_000252.3(MTM1):c.1244G>A (p.Gly415Glu) rs587783766
NM_000252.3(MTM1):c.1245A>G (p.Gly415=) rs2148508923
NM_000252.3(MTM1):c.1260+10C>T
NM_000252.3(MTM1):c.1260+15C>G
NM_000252.3(MTM1):c.1260+19T>C
NM_000252.3(MTM1):c.1260+1G>A rs587783768
NM_000252.3(MTM1):c.1260+5G>A rs587783769
NM_000252.3(MTM1):c.1261-10A>C
NM_000252.3(MTM1):c.1261-10A>G rs397518445
NM_000252.3(MTM1):c.1261-15C>T
NM_000252.3(MTM1):c.1261-18C>G
NM_000252.3(MTM1):c.1261-1G>C rs587783770
NM_000252.3(MTM1):c.1261-20A>G
NM_000252.3(MTM1):c.1261-21_1261-16del
NM_000252.3(MTM1):c.1261-2A>C rs2148510791
NM_000252.3(MTM1):c.1262G>A (p.Arg421Gln) rs587783772
NM_000252.3(MTM1):c.1269T>A (p.Gly423=)
NM_000252.3(MTM1):c.1283_1286del (p.Asn428fs) rs587783773
NM_000252.3(MTM1):c.1283del (p.Asn428fs) rs797045712
NM_000252.3(MTM1):c.129A>T (p.Leu43=)
NM_000252.3(MTM1):c.1302T>C (p.Arg434=) rs2148510860
NM_000252.3(MTM1):c.1306_1308del (p.Pro436del) rs797045713
NM_000252.3(MTM1):c.1307C>T (p.Pro436Leu) rs587783774
NM_000252.3(MTM1):c.1307del (p.Pro436fs) rs587783775
NM_000252.3(MTM1):c.130dup (p.Ile44fs) rs797045714
NM_000252.3(MTM1):c.1319del (p.Gln440fs)
NM_000252.3(MTM1):c.1323T>C (p.Phe441=)
NM_000252.3(MTM1):c.1325T>A (p.Ile442Asn) rs587783776
NM_000252.3(MTM1):c.1328A>C (p.Asp443Ala) rs587783777
NM_000252.3(MTM1):c.1329T>C (p.Asp443=)
NM_000252.3(MTM1):c.1337G>A (p.Trp446Ter) rs587783778
NM_000252.3(MTM1):c.1340A>G (p.Gln447Arg)
NM_000252.3(MTM1):c.1349_1353+4del rs797045715
NM_000252.3(MTM1):c.1353+14G>A
NM_000252.3(MTM1):c.1353+1G>A rs587783779
NM_000252.3(MTM1):c.1353+2T>C rs587783780
NM_000252.3(MTM1):c.1353+4A>C
NM_000252.3(MTM1):c.1353+9T>A
NM_000252.3(MTM1):c.1353G>A (p.Gln451=) rs587783781
NM_000252.3(MTM1):c.1354-19_1354-16del
NM_000252.3(MTM1):c.1354-1G>A rs587783782
NM_000252.3(MTM1):c.1354-2A>T rs781835307
NM_000252.3(MTM1):c.1354-7del rs782326353
NM_000252.3(MTM1):c.136+11G>C
NM_000252.3(MTM1):c.136+14G>A
NM_000252.3(MTM1):c.136+172T>C
NM_000252.3(MTM1):c.136+1G>T rs1603124201
NM_000252.3(MTM1):c.136+5G>A
NM_000252.3(MTM1):c.1367T>C (p.Phe456Ser) rs587783783
NM_000252.3(MTM1):c.1369G>A (p.Glu457Lys) rs398123269
NM_000252.3(MTM1):c.137-11del
NM_000252.3(MTM1):c.137-11dup rs797045716
NM_000252.3(MTM1):c.137-18del
NM_000252.3(MTM1):c.137-7T>G rs587783784
NM_000252.3(MTM1):c.1371del (p.Glu457fs)
NM_000252.3(MTM1):c.1372T>G (p.Phe458Val)
NM_000252.3(MTM1):c.1376A>T (p.Asn459Ile) rs587783785
NM_000252.3(MTM1):c.1378G>T (p.Glu460Ter) rs587783786
NM_000252.3(MTM1):c.1381C>T (p.Gln461Ter) rs782234944
NM_000252.3(MTM1):c.1388T>C (p.Leu463Ser) rs587783787
NM_000252.3(MTM1):c.1388T>G (p.Leu463Trp) rs587783787
NM_000252.3(MTM1):c.1389G>T (p.Leu463Phe)
NM_000252.3(MTM1):c.1392T>C (p.Ile464=) rs2148511855
NM_000252.3(MTM1):c.139_141del (p.Lys47del) rs587783788
NM_000252.3(MTM1):c.1405C>G (p.His469Asp)
NM_000252.3(MTM1):c.1406A>C (p.His469Pro) rs587783789
NM_000252.3(MTM1):c.1406A>G (p.His469Arg) rs587783789
NM_000252.3(MTM1):c.1419C>T (p.Cys473=)
NM_000252.3(MTM1):c.141A>G (p.Lys47=) rs587783790
NM_000252.3(MTM1):c.141_144del rs587783791
NM_000252.3(MTM1):c.1420C>T (p.Arg474Ter) rs587783792
NM_000252.3(MTM1):c.1423T>C (p.Phe475Leu)
NM_000252.3(MTM1):c.1427G>T (p.Gly476Val) rs587783793
NM_000252.3(MTM1):c.1429A>G (p.Thr477Ala) rs2040200948
NM_000252.3(MTM1):c.1433T>C (p.Phe478Ser) rs587783794
NM_000252.3(MTM1):c.1436_1437insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCCCCTGGTACTTTCTT (p.Phe478_Leu479insPhePhePhePhePhePhePheXaaXaaXaaXaaSerSerAlaSerLeuThrLeuGlyAlaValAspArgSerCysSerTyrSerAlaIleLeuAlaProProProGlyThrPhe)
NM_000252.3(MTM1):c.1438T>C (p.Phe480Leu)
NM_000252.3(MTM1):c.1447G>T (p.Glu483Ter) rs2148511944
NM_000252.3(MTM1):c.1449A>G (p.Glu483=) rs2148511948
NM_000252.3(MTM1):c.144A>G (p.Glu48=)
NM_000252.3(MTM1):c.1456C>T (p.Arg486Ter) rs587783795
NM_000252.3(MTM1):c.1459G>T (p.Glu487Ter) rs2148511970
NM_000252.3(MTM1):c.145G>A (p.Val49Ile) rs587783796
NM_000252.3(MTM1):c.145G>T (p.Val49Phe) rs587783796
NM_000252.3(MTM1):c.1464A>C (p.Arg488Ser)
NM_000252.3(MTM1):c.1465_1468del (p.Gln489fs) rs587783797
NM_000252.3(MTM1):c.1467+17T>A
NM_000252.3(MTM1):c.1467+1G>A rs587783798
NM_000252.3(MTM1):c.1467+1G>T rs587783798
NM_000252.3(MTM1):c.1467+24del
NM_000252.3(MTM1):c.1467+24dup
NM_000252.3(MTM1):c.1467+2T>A rs587783799
NM_000252.3(MTM1):c.1468-11TC[2] rs2148515446
NM_000252.3(MTM1):c.1468-12G>A
NM_000252.3(MTM1):c.1468-12G>C
NM_000252.3(MTM1):c.1468-12G>T
NM_000252.3(MTM1):c.1468-12_1468-11del
NM_000252.3(MTM1):c.1468-18_1468-13del
NM_000252.3(MTM1):c.1468-21TC[2]
NM_000252.3(MTM1):c.1468-2A>G
NM_000252.3(MTM1):c.1468-5T>C rs2148515462
NM_000252.3(MTM1):c.1468-8C>T rs1276451236
NM_000252.3(MTM1):c.1469A>G (p.Lys490Arg) rs781948606
NM_000252.3(MTM1):c.1470G>T (p.Lys490Asn)
NM_000252.3(MTM1):c.1475C>T (p.Thr492Ile)
NM_000252.3(MTM1):c.147T>A (p.Val49=) rs2148434016
NM_000252.3(MTM1):c.1482G>A (p.Arg494=)
NM_000252.3(MTM1):c.1485T>A (p.Thr495=) rs2148515501
NM_000252.3(MTM1):c.1495T>C (p.Trp499Arg) rs587783801
NM_000252.3(MTM1):c.1501C>T (p.Leu501=) rs2148515532
NM_000252.3(MTM1):c.1503G>C (p.Leu501=) rs2148515546
NM_000252.3(MTM1):c.1505T>A (p.Ile502Lys) rs1557414802
NM_000252.3(MTM1):c.1509C>T (p.Asn503=) rs1603208456
NM_000252.3(MTM1):c.1509_1510del (p.Asn503fs)
NM_000252.3(MTM1):c.1509del (p.Asn503fs) rs587783802
NM_000252.3(MTM1):c.1518A>G (p.Lys506=) rs2040257647
NM_000252.3(MTM1):c.1521A>G (p.Glu507=) rs2148515589
NM_000252.3(MTM1):c.1525T>C (p.Phe509Leu) rs2040257723
NM_000252.3(MTM1):c.1529A>G (p.Lys510Arg) rs2148515610
NM_000252.3(MTM1):c.1533C>A (p.Asn511Lys) rs1569565536
NM_000252.3(MTM1):c.153C>A (p.Tyr51Ter) rs2148434034
NM_000252.3(MTM1):c.153C>T (p.Tyr51=) rs2148434034
NM_000252.3(MTM1):c.153_156del (p.Ile52fs) rs587783803
NM_000252.3(MTM1):c.1542T>C (p.Tyr514=)
NM_000252.3(MTM1):c.1546A>G (p.Lys516Glu) rs868972342
NM_000252.3(MTM1):c.1546A>T (p.Lys516Ter) rs868972342
NM_000252.3(MTM1):c.154del (p.Ile52fs) rs587783804
NM_000252.3(MTM1):c.1551A>G (p.Glu517=) rs2040258177
NM_000252.3(MTM1):c.1558C>A (p.Arg520=) rs587783805
NM_000252.3(MTM1):c.1558C>T (p.Arg520Ter) rs587783805
NM_000252.3(MTM1):c.1566A>G (p.Leu522=) rs2148515668
NM_000252.3(MTM1):c.156A>G (p.Ile52Met)
NM_000252.3(MTM1):c.1573G>T (p.Val525Phe)
NM_000252.3(MTM1):c.1575T>A (p.Val525=)
NM_000252.3(MTM1):c.1578C>T (p.Ala526=) rs1603208507
NM_000252.3(MTM1):c.1591T>C (p.Leu531=) rs2040258987
NM_000252.3(MTM1):c.1596A>G (p.Glu532=)
NM_000252.3(MTM1):c.1599C>T (p.Leu533=) rs2148515718
NM_000252.3(MTM1):c.15A>C (p.Ser5=) rs2148425501
NM_000252.3(MTM1):c.1604T>A (p.Val535Glu) rs2148515723
NM_000252.3(MTM1):c.1608T>C (p.Asn536=)
NM_000252.3(MTM1):c.1627C>A (p.Pro543Thr)
NM_000252.3(MTM1):c.1627C>T (p.Pro543Ser)
NM_000252.3(MTM1):c.1632G>A (p.Arg544=)
NM_000252.3(MTM1):c.1644+18G>A
NM_000252.3(MTM1):c.1644+19T>G
NM_000252.3(MTM1):c.1644+1G>A rs398123272
NM_000252.3(MTM1):c.1645-13T>C
NM_000252.3(MTM1):c.1645-14_1645-13del
NM_000252.3(MTM1):c.1645-17T>A
NM_000252.3(MTM1):c.1645-17T>G
NM_000252.3(MTM1):c.1645-19A>C
NM_000252.3(MTM1):c.1649C>T (p.Pro550Leu)
NM_000252.3(MTM1):c.1650G>A (p.Pro550=) rs2040394486
NM_000252.3(MTM1):c.1662G>A (p.Glu554=) rs1603214698
NM_000252.3(MTM1):c.1665G>A (p.Gln555=)
NM_000252.3(MTM1):c.1666C>T (p.Arg556Cys) rs1603214706
NM_000252.3(MTM1):c.1667G>A (p.Arg556His) rs372735301
NM_000252.3(MTM1):c.1673T>C (p.Met558Thr)
NM_000252.3(MTM1):c.1680C>G (p.Leu560=)
NM_000252.3(MTM1):c.1683A>G (p.Leu561=) rs2148525035
NM_000252.3(MTM1):c.1693G>A (p.Asp565Asn)
NM_000252.3(MTM1):c.1696G>T (p.Glu566Ter)
NM_000252.3(MTM1):c.1697A>G (p.Glu566Gly)
NM_000252.3(MTM1):c.16A>G (p.Thr6Ala)
NM_000252.3(MTM1):c.1713T>C (p.Leu571=) rs1557415142
NM_000252.3(MTM1):c.171C>A (p.Gly57=) rs782505553
NM_000252.3(MTM1):c.1722G>A (p.Leu574=) rs781846889
NM_000252.3(MTM1):c.1724A>C (p.Gln575Pro) rs1347335331
NM_000252.3(MTM1):c.1728C>A (p.Leu576=)
NM_000252.3(MTM1):c.1728C>T (p.Leu576=) rs375031903
NM_000252.3(MTM1):c.1733A>C (p.Asn578Thr)
NM_000252.3(MTM1):c.1743G>A (p.Lys581=)
NM_000252.3(MTM1):c.1748C>T (p.Ser583Phe)
NM_000252.3(MTM1):c.1753C>G (p.Pro585Ala) rs1195705222
NM_000252.3(MTM1):c.1755C>A (p.Pro585=)
NM_000252.3(MTM1):c.1756C>T (p.Pro586Ser)
NM_000252.3(MTM1):c.1759A>G (p.Thr587Ala)
NM_000252.3(MTM1):c.1761T>G (p.Thr587=) rs2148525231
NM_000252.3(MTM1):c.1766C>G (p.Pro589Arg)
NM_000252.3(MTM1):c.1778C>A (p.Ser593Ter)
NM_000252.3(MTM1):c.1778C>T (p.Ser593Leu)
NM_000252.3(MTM1):c.1779G>T (p.Ser593=) rs782375296
NM_000252.3(MTM1):c.1791C>G (p.Pro597=)
NM_000252.3(MTM1):c.1792del (p.His598fs) rs34119065
NM_000252.3(MTM1):c.180G>A (p.Lys60=)
NM_000252.3(MTM1):c.1811del (p.Phe603_Ter604insTer)
NM_000252.3(MTM1):c.18T>A (p.Thr6=)
NM_000252.3(MTM1):c.205C>G (p.Arg69Gly) rs132630304
NM_000252.3(MTM1):c.205C>T (p.Arg69Cys) rs132630304
NM_000252.3(MTM1):c.208C>T (p.Leu70Phe) rs587783809
NM_000252.3(MTM1):c.214T>C (p.Leu72=)
NM_000252.3(MTM1):c.215del (p.Tyr71_Leu72insTer)
NM_000252.3(MTM1):c.21T>G (p.Ser7=)
NM_000252.3(MTM1):c.223T>C (p.Leu75=)
NM_000252.3(MTM1):c.226G>T (p.Glu76Ter) rs1057516031
NM_000252.3(MTM1):c.231+1G>A rs587783810
NM_000252.3(MTM1):c.231+2T>G rs587783811
NM_000252.3(MTM1):c.231+8G>A rs2148434174
NM_000252.3(MTM1):c.232-11G>T
NM_000252.3(MTM1):c.232-12dup
NM_000252.3(MTM1):c.232-1G>A rs587783812
NM_000252.3(MTM1):c.232-1G>C
NM_000252.3(MTM1):c.232-2A>C rs587783813
NM_000252.3(MTM1):c.232-3C>A rs587783814
NM_000252.3(MTM1):c.232-8C>T rs782389461
NM_000252.3(MTM1):c.232G>C (p.Asp78His)
NM_000252.3(MTM1):c.252del (p.Asp84fs) rs587783815
NM_000252.3(MTM1):c.260T>C (p.Leu87Pro) rs587783816
NM_000252.3(MTM1):c.271_272delinsAT (p.Ser91Met)
NM_000252.3(MTM1):c.273G>A (p.Ser91=) rs1447559040
NM_000252.3(MTM1):c.27T>C (p.Tyr9=)
NM_000252.3(MTM1):c.27T>G (p.Tyr9Ter)
NM_000252.3(MTM1):c.294C>T (p.Gly98=)
NM_000252.3(MTM1):c.295G>A (p.Ala99Thr)
NM_000252.3(MTM1):c.296C>T (p.Ala99Val)
NM_000252.3(MTM1):c.2T>C (p.Met1Thr)
NM_000252.3(MTM1):c.2T>G (p.Met1Arg) rs587783817
NM_000252.3(MTM1):c.301A>G (p.Ser101Gly) rs587783818
NM_000252.3(MTM1):c.302_303del (p.Ser101fs)
NM_000252.3(MTM1):c.310G>T (p.Glu104Ter) rs2148456062
NM_000252.3(MTM1):c.326T>C (p.Leu109Pro) rs2148456078
NM_000252.3(MTM1):c.32C>T (p.Ser11Leu)
NM_000252.3(MTM1):c.335C>G (p.Thr112Ser)
NM_000252.3(MTM1):c.336T>A (p.Thr112=)
NM_000252.3(MTM1):c.339T>A (p.Cys113Ter) rs147644722
NM_000252.3(MTM1):c.340A>T (p.Lys114Ter) rs587783819
NM_000252.3(MTM1):c.342+12G>A
NM_000252.3(MTM1):c.342+17T>C
NM_000252.3(MTM1):c.342+19T>C
NM_000252.3(MTM1):c.342+19_342+22del
NM_000252.3(MTM1):c.342+1G>A rs1557413092
NM_000252.3(MTM1):c.342+4A>G rs587783820
NM_000252.3(MTM1):c.342+9T>C rs2148456159
NM_000252.3(MTM1):c.342+9T>G
NM_000252.3(MTM1):c.342_342+4del rs797045717
NM_000252.3(MTM1):c.343-12C>T rs2039433672
NM_000252.3(MTM1):c.343-16T>C
NM_000252.3(MTM1):c.343-1G>A rs2148461695
NM_000252.3(MTM1):c.343-2A>G rs587783821
NM_000252.3(MTM1):c.343-3dup rs2148461677
NM_000252.3(MTM1):c.345C>T (p.Asp115=) rs2148461700
NM_000252.3(MTM1):c.350_351del (p.Arg117fs)
NM_000252.3(MTM1):c.359G>A (p.Arg120Lys)
NM_000252.3(MTM1):c.363C>T (p.Phe121=)
NM_000252.3(MTM1):c.364G>T (p.Ala122Ser)
NM_000252.3(MTM1):c.369G>A (p.Leu123=)
NM_000252.3(MTM1):c.375G>A (p.Gln125=)
NM_000252.3(MTM1):c.387C>T (p.Ser129=)
NM_000252.3(MTM1):c.388A>T (p.Arg130Ter) rs2039434309
NM_000252.3(MTM1):c.396T>C (p.Asp132=)
NM_000252.3(MTM1):c.397A>G (p.Met133Val) rs2039434563
NM_000252.3(MTM1):c.397_398del (p.Met133fs) rs587783822
NM_000252.3(MTM1):c.3G>A (p.Met1Ile) rs587783823
NM_000252.3(MTM1):c.402del (p.Phe134fs) rs587783824
NM_000252.3(MTM1):c.403G>T (p.Glu135Ter)
NM_000252.3(MTM1):c.405_408delinsTT (p.Glu135fs)
NM_000252.3(MTM1):c.408C>T (p.Ile136=)
NM_000252.3(MTM1):c.410T>C (p.Leu137Pro) rs2148461766
NM_000252.3(MTM1):c.411C>T (p.Leu137=)
NM_000252.3(MTM1):c.414G>A (p.Thr138=)
NM_000252.3(MTM1):c.414_421dup (p.Ala141fs)
NM_000252.3(MTM1):c.419dup (p.Tyr140Ter) rs797045718
NM_000252.3(MTM1):c.420C>G (p.Tyr140Ter) rs587783825
NM_000252.3(MTM1):c.421G>C (p.Ala141Pro) rs1557413215
NM_000252.3(MTM1):c.431del (p.Leu144fs) rs587783826
NM_000252.3(MTM1):c.432G>T (p.Leu144=) rs2148461815
NM_000252.3(MTM1):c.439A>G (p.Ser147Gly) rs964287315
NM_000252.3(MTM1):c.444+10A>G rs782479470
NM_000252.3(MTM1):c.444+12T>C rs2148461835
NM_000252.3(MTM1):c.444+15T>C
NM_000252.3(MTM1):c.444+17T>C
NM_000252.3(MTM1):c.444+19C>G
NM_000252.3(MTM1):c.444+19_444+21del
NM_000252.3(MTM1):c.444+2T>A
NM_000252.3(MTM1):c.445-12dup
NM_000252.3(MTM1):c.445-20T>C
NM_000252.3(MTM1):c.446C>G (p.Pro149Arg) rs2148485707
NM_000252.3(MTM1):c.450A>G (p.Leu150=)
NM_000252.3(MTM1):c.456A>G (p.Ala152=)
NM_000252.3(MTM1):c.463A>T (p.Asn155Tyr)
NM_000252.3(MTM1):c.465T>C (p.Asn155=)
NM_000252.3(MTM1):c.465del (p.Asn155fs) rs1557413783
NM_000252.3(MTM1):c.466G>A (p.Glu156Lys)
NM_000252.3(MTM1):c.469G>A (p.Glu157Lys) rs132630307
NM_000252.3(MTM1):c.469G>C (p.Glu157Gln)
NM_000252.3(MTM1):c.469del (p.Glu157fs) rs587783827
NM_000252.3(MTM1):c.473del (p.Lys158fs)
NM_000252.3(MTM1):c.483G>A (p.Val161=)
NM_000252.3(MTM1):c.487G>T (p.Gly163Ter) rs2039802744
NM_000252.3(MTM1):c.490_493del (p.Trp164fs) rs1603184989
NM_000252.3(MTM1):c.492G>A (p.Trp164Ter)
NM_000252.3(MTM1):c.495A>G (p.Thr165=)
NM_000252.3(MTM1):c.49G>T (p.Glu17Ter) rs886039522
NM_000252.3(MTM1):c.501C>T (p.Tyr167=) rs2039803075
NM_000252.3(MTM1):c.504T>C (p.Asn168=)
NM_000252.3(MTM1):c.510G>A (p.Val170=)
NM_000252.3(MTM1):c.514G>T (p.Glu172Ter) rs587783828
NM_000252.3(MTM1):c.516del (p.Glu172fs) rs2039803495
NM_000252.3(MTM1):c.519C>T (p.Tyr173=) rs2148485835
NM_000252.3(MTM1):c.520A>G (p.Arg174Gly)
NM_000252.3(MTM1):c.526C>A (p.Gln176Lys) rs587783829
NM_000252.3(MTM1):c.528+10dup
NM_000252.3(MTM1):c.528+13A>G
NM_000252.3(MTM1):c.528+13A>T
NM_000252.3(MTM1):c.528+17T>A rs2148485858
NM_000252.3(MTM1):c.528+18A>G
NM_000252.3(MTM1):c.528+18_528+22dup
NM_000252.3(MTM1):c.528+1G>A
NM_000252.3(MTM1):c.528+1G>T rs587783830
NM_000252.3(MTM1):c.528G>A (p.Gln176=)
NM_000252.3(MTM1):c.529-2A>G rs587783831
NM_000252.3(MTM1):c.529-5C>T
NM_000252.3(MTM1):c.529-9dup
NM_000252.3(MTM1):c.530G>T (p.Gly177Val) rs1603187659
NM_000252.3(MTM1):c.533T>C (p.Leu178Ser) rs2148488364
NM_000252.3(MTM1):c.535C>A (p.Pro179Thr) rs587783832
NM_000252.3(MTM1):c.535C>T (p.Pro179Ser) rs587783832
NM_000252.3(MTM1):c.539_545del (p.Asn180fs) rs587783833
NM_000252.3(MTM1):c.543C>G (p.His181Gln) rs1603187692
NM_000252.3(MTM1):c.544C>T (p.His182Tyr) rs2148488398
NM_000252.3(MTM1):c.548G>A (p.Trp183Ter) rs2148488410
NM_000252.3(MTM1):c.549G>A (p.Trp183Ter) rs587783834
NM_000252.3(MTM1):c.549dup (p.Arg184fs) rs797045719
NM_000252.3(MTM1):c.550A>G (p.Arg184Gly) rs587783835
NM_000252.3(MTM1):c.550A>T (p.Arg184Ter)
NM_000252.3(MTM1):c.553A>T (p.Ile185Leu) rs2148488427
NM_000252.3(MTM1):c.557C>T (p.Thr186Ile) rs587783836
NM_000252.3(MTM1):c.560T>C (p.Phe187Ser)
NM_000252.3(MTM1):c.562A>C (p.Ile188Leu)
NM_000252.3(MTM1):c.566A>G (p.Asn189Ser) rs132630302
NM_000252.3(MTM1):c.566_569dup (p.Lys190_Cys191insTer)
NM_000252.3(MTM1):c.575A>G (p.Tyr192Cys) rs587783838
NM_000252.3(MTM1):c.576T>C (p.Tyr192=) rs2148488477
NM_000252.3(MTM1):c.590C>T (p.Thr197Ile) rs2148488506
NM_000252.3(MTM1):c.591_594del (p.Tyr198fs) rs587783839
NM_000252.3(MTM1):c.592T>C (p.Tyr198His) rs2039845128
NM_000252.3(MTM1):c.593A>C (p.Tyr198Ser) rs1569565497
NM_000252.3(MTM1):c.5C>T (p.Ala2Val) rs1603118990
NM_000252.3(MTM1):c.600T>G (p.Ala200=)
NM_000252.3(MTM1):c.605del (p.Leu202fs) rs672601325
NM_000252.3(MTM1):c.606G>T (p.Leu202Phe)
NM_000252.3(MTM1):c.611T>G (p.Val204Gly) rs587783840
NM_000252.3(MTM1):c.614C>T (p.Pro205Leu) rs587783841
NM_000252.3(MTM1):c.619C>T (p.Arg207Cys) rs1470686963
NM_000252.3(MTM1):c.624C>T (p.Ala208=)
NM_000252.3(MTM1):c.624del (p.Ser209fs) rs2039846270
NM_000252.3(MTM1):c.629A>G (p.Asp210Gly) rs587783842
NM_000252.3(MTM1):c.629A>T (p.Asp210Val)
NM_000252.3(MTM1):c.62G>A (p.Arg21Lys) rs2148425592
NM_000252.3(MTM1):c.63+16A>G
NM_000252.3(MTM1):c.63+1G>A rs587783843
NM_000252.3(MTM1):c.63+1G>T rs587783843
NM_000252.3(MTM1):c.63+21del
NM_000252.3(MTM1):c.63+3A>T rs587783844
NM_000252.3(MTM1):c.63+7del rs782222093
NM_000252.3(MTM1):c.636C>T (p.Asp212=)
NM_000252.3(MTM1):c.637C>T (p.Leu213Phe) rs587783845
NM_000252.3(MTM1):c.64-1G>A rs587783846
NM_000252.3(MTM1):c.64-2A>G rs1603123976
NM_000252.3(MTM1):c.64-7T>C rs1603123969
NM_000252.3(MTM1):c.640C>T (p.Arg214Trp)
NM_000252.3(MTM1):c.641G>A (p.Arg214Gln)
NM_000252.3(MTM1):c.643A>C (p.Arg215=)
NM_000252.3(MTM1):c.664C>A (p.Arg222=) rs587783847
NM_000252.3(MTM1):c.664C>T (p.Arg222Ter) rs587783847
NM_000252.3(MTM1):c.665G>A (p.Arg222Gln)
NM_000252.3(MTM1):c.670C>T (p.Arg224Ter) rs132630306
NM_000252.3(MTM1):c.675T>C (p.Ile225=)
NM_000252.3(MTM1):c.676C>A (p.Pro226Thr) rs587783848
NM_000252.3(MTM1):c.678+18C>T
NM_000252.3(MTM1):c.678+19G>A rs1215955664
NM_000252.3(MTM1):c.678+1G>A rs587783849
NM_000252.3(MTM1):c.678+5G>A
NM_000252.3(MTM1):c.678+6T>A rs2039847628
NM_000252.3(MTM1):c.678+7A>G rs2148488635
NM_000252.3(MTM1):c.678+9T>C
NM_000252.3(MTM1):c.678+9T>G
NM_000252.3(MTM1):c.678A>G (p.Pro226=)
NM_000252.3(MTM1):c.679-10T>G rs782314713
NM_000252.3(MTM1):c.679-19C>G
NM_000252.3(MTM1):c.679-1G>A rs672601324
NM_000252.3(MTM1):c.679-22_679-17del
NM_000252.3(MTM1):c.679-2A>C
NM_000252.3(MTM1):c.679G>A (p.Val227Met) rs587783850
NM_000252.3(MTM1):c.683T>C (p.Leu228Pro) rs587783851
NM_000252.3(MTM1):c.684G>A (p.Leu228=) rs587783852
NM_000252.3(MTM1):c.687A>G (p.Ser229=)
NM_000252.3(MTM1):c.688T>C (p.Trp230Arg) rs398123274
NM_000252.3(MTM1):c.6T>C (p.Ala2=)
NM_000252.3(MTM1):c.6T>G (p.Ala2=)
NM_000252.3(MTM1):c.70C>T (p.Arg24Ter) rs398123275
NM_000252.3(MTM1):c.711G>A (p.Thr237=) rs1162408107
NM_000252.3(MTM1):c.717T>C (p.Ile239=) rs2148493140
NM_000252.3(MTM1):c.71G>A (p.Arg24Gln)
NM_000252.3(MTM1):c.71G>C (p.Arg24Pro)
NM_000252.3(MTM1):c.720G>A (p.Val240=) rs2148493142
NM_000252.3(MTM1):c.721C>T (p.Arg241Cys) rs132630305
NM_000252.3(MTM1):c.726C>T (p.Cys242=) rs2039919467
NM_000252.3(MTM1):c.727A>G (p.Ser243Gly) rs2148493156
NM_000252.3(MTM1):c.728G>A (p.Ser243Asn) rs2039919583
NM_000252.3(MTM1):c.730C>T (p.Gln244Ter) rs2039919698
NM_000252.3(MTM1):c.730_731del (p.Gln244fs)
NM_000252.3(MTM1):c.734C>T (p.Pro245Leu) rs1557413958
NM_000252.3(MTM1):c.742G>A (p.Gly248Ser) rs368335697
NM_000252.3(MTM1):c.743G>T (p.Gly248Val) rs587783853
NM_000252.3(MTM1):c.745A>G (p.Met249Val)
NM_000252.3(MTM1):c.74A>G (p.Asp25Gly)
NM_000252.3(MTM1):c.753G>A (p.Gly251=) rs1603192655
NM_000252.3(MTM1):c.757C>T (p.Arg253Ter) rs587783854
NM_000252.3(MTM1):c.763A>T (p.Lys255Ter)
NM_000252.3(MTM1):c.76_90del (p.Gly26_Asp30del) rs1603124011
NM_000252.3(MTM1):c.770A>G (p.Asp257Gly)
NM_000252.3(MTM1):c.774G>A (p.Glu258=) rs2148493209
NM_000252.3(MTM1):c.779A>C (p.Tyr260Ser) rs587783855
NM_000252.3(MTM1):c.782_783del (p.Leu261fs)
NM_000252.3(MTM1):c.784G>A (p.Asp262Asn)
NM_000252.3(MTM1):c.787G>A (p.Val263Ile)
NM_000252.3(MTM1):c.791T>G (p.Ile264Ser) rs587783856
NM_000252.3(MTM1):c.800C>T (p.Thr267Ile)
NM_000252.3(MTM1):c.804_805del (p.Asn268fs)
NM_000252.3(MTM1):c.805A>T (p.Lys269Ter) rs2039921355
NM_000252.3(MTM1):c.808_811del (p.Gln270fs) rs797045720
NM_000252.3(MTM1):c.810A>G (p.Gln270=) rs782474609
NM_000252.3(MTM1):c.816T>G (p.Ser272=) rs2148493297
NM_000252.3(MTM1):c.819_820dup (p.Leu274fs) rs2148493304
NM_000252.3(MTM1):c.821T>G (p.Leu274Arg) rs2148493317
NM_000252.3(MTM1):c.825C>T (p.Thr275=) rs2148493322
NM_000252.3(MTM1):c.834T>C (p.Asp278=)
NM_000252.3(MTM1):c.838A>T (p.Arg280Ter) rs2039922261
NM_000252.3(MTM1):c.83A>G (p.Asn28Ser)
NM_000252.3(MTM1):c.843C>T (p.Pro281=)
NM_000252.3(MTM1):c.846C>T (p.Ser282=) rs375301020
NM_000252.3(MTM1):c.85C>T (p.Arg29Ter) rs587783857
NM_000252.3(MTM1):c.867+13_867+15del
NM_000252.3(MTM1):c.867+1G>A rs587783858
NM_000252.3(MTM1):c.867+2T>A
NM_000252.3(MTM1):c.867_867+1dup rs797045721
NM_000252.3(MTM1):c.868-11T>C
NM_000252.3(MTM1):c.868-14A>G
NM_000252.3(MTM1):c.868-9_868-7del rs2148497680
NM_000252.3(MTM1):c.87A>C (p.Arg29=)
NM_000252.3(MTM1):c.888_889del (p.Glu296_Ser297insTer) rs587783859
NM_000252.3(MTM1):c.894T>C (p.Asp298=)
NM_000252.3(MTM1):c.898G>A (p.Ala300Thr) rs2148497733
NM_000252.3(MTM1):c.900A>G (p.Ala300=)
NM_000252.3(MTM1):c.905A>G (p.His302Arg) rs2148497756
NM_000252.3(MTM1):c.912C>T (p.Ala304=) rs782504569
NM_000252.3(MTM1):c.912del (p.Glu305fs) rs587783860
NM_000252.3(MTM1):c.913G>A (p.Glu305Lys) rs587783861
NM_000252.3(MTM1):c.913G>C (p.Glu305Gln) rs587783861
NM_000252.3(MTM1):c.919_923del (p.Phe307fs)
NM_000252.3(MTM1):c.921CTT[1] (p.Phe308del) rs587783862
NM_000252.3(MTM1):c.925_926del (p.Leu309fs)
NM_000252.3(MTM1):c.930C>T (p.Asp310=) rs1603196546
NM_000252.3(MTM1):c.935_936insACTGTCTC (p.His312fs)
NM_000252.3(MTM1):c.944A>G (p.His315Arg) rs2148497817
NM_000252.3(MTM1):c.946G>A (p.Val316Ile) rs2148497828
NM_000252.3(MTM1):c.949dup (p.Met317fs) rs797045722
NM_000252.3(MTM1):c.952C>T (p.Arg318Trp) rs2039989751
NM_000252.3(MTM1):c.958T>C (p.Ser320Pro) rs587783863
NM_000252.3(MTM1):c.961_962del (p.Leu321fs) rs587783864
NM_000252.3(MTM1):c.963A>T (p.Leu321Phe)
NM_000252.3(MTM1):c.969del (p.Lys323_Val324insTer) rs587783865
NM_000252.3(MTM1):c.969dup (p.Val324fs) rs587783865
NM_000252.3(MTM1):c.96dup (p.Glu33Ter) rs797045724
NM_000252.3(MTM1):c.972G>A (p.Val324=)
NM_000252.3(MTM1):c.97G>T (p.Glu33Ter) rs2038978870
NM_000252.3(MTM1):c.989C>T (p.Pro330Leu) rs2148497898
NM_000252.3(MTM1):c.990T>C (p.Pro330=)
NM_000252.3(MTM1):c.996A>G (p.Val332=)
NM_000252.3(MTM1):c.99G>A (p.Glu33=)
NM_000540.3(RYR1):c.10882C>G (p.Arg3628Gly)
NM_000540.3(RYR1):c.12083C>T (p.Ser4028Leu) rs794728696
NM_000540.3(RYR1):c.1342A>T (p.Ile448Phe) rs911417327
NM_000540.3(RYR1):c.13940T>A (p.Leu4647Gln)
NM_000540.3(RYR1):c.1576+1G>A rs2145393963
NM_000540.3(RYR1):c.2044C>G (p.Arg682Gly) rs776252106
NM_000540.3(RYR1):c.2200C>T (p.Gln734Ter)
NM_000540.3(RYR1):c.2500_2501dup (p.Pro836fs) rs1568454672
NM_000540.3(RYR1):c.3263A>G (p.Tyr1088Cys)
NM_000540.3(RYR1):c.4837C>T (p.Gln1613Ter) rs1332371891
NM_000540.3(RYR1):c.5449del (p.Glu1817fs) rs2145545066
NM_000540.3(RYR1):c.6797-6_6798del
NM_000540.3(RYR1):c.6891+1G>T
NM_000540.3(RYR1):c.725G>A (p.Arg242Lys)
NM_000540.3(RYR1):c.7639GCGCTG[3] (p.Leu2550_Asn2551insAlaLeu)
NM_000540.3(RYR1):c.8024C>A (p.Thr2675Lys) rs1600843056
NM_000540.3(RYR1):c.8141_8142del (p.Tyr2714fs)
NM_000540.3(RYR1):c.8342_8343del (p.Ile2781fs) rs758580075
NM_000540.3(RYR1):c.9611C>T (p.Ala3204Val)
NM_000751.3(CHRND):c.880C>T (p.Leu294Phe) rs1574633904
NM_001005361.3(DNM2):c.*166G>A rs886054145
NM_001005361.3(DNM2):c.*22C>T rs531170486
NM_001005361.3(DNM2):c.*35C>G rs199700849
NM_001005361.3(DNM2):c.*379C>T rs953057550
NM_001005361.3(DNM2):c.*386G>C rs74952080
NM_001005361.3(DNM2):c.*550G>A rs886054148
NM_001005361.3(DNM2):c.*711T>C rs886054149
NM_001005361.3(DNM2):c.*716C>T rs2073353055
NM_001005361.3(DNM2):c.*751T>A rs2073354083
NM_001005361.3(DNM2):c.-122G>A rs886054139
NM_001005361.3(DNM2):c.-19G>T rs753599004
NM_001005361.3(DNM2):c.1090C>T (p.Arg364Cys) rs1568304333
NM_001005361.3(DNM2):c.1102G>A (p.Glu368Lys) rs121909092
NM_001005361.3(DNM2):c.1106G>A (p.Arg369Gln) rs121909089
NM_001005361.3(DNM2):c.1124T>A (p.Val375Glu) rs587783594
NM_001005361.3(DNM2):c.1196+647G>T rs2146025928
NM_001005361.3(DNM2):c.1354T>G (p.Leu452Val) rs770599060
NM_001005361.3(DNM2):c.1372C>A (p.Arg458=) rs745748213
NM_001005361.3(DNM2):c.1393C>T (p.Arg465Trp) rs121909091
NM_001005361.3(DNM2):c.1493A>G (p.Asn498Ser) rs886054140
NM_001005361.3(DNM2):c.1565G>A (p.Arg522His) rs587783595
NM_001005361.3(DNM2):c.161G>A (p.Arg54Gln)
NM_001005361.3(DNM2):c.162-7C>A rs148318860
NM_001005361.3(DNM2):c.1781G>A (p.Arg594Lys)
NM_001005361.3(DNM2):c.1799T>C (p.Leu600Pro)
NM_001005361.3(DNM2):c.1810G>A (p.Glu604Lys) rs951875086
NM_001005361.3(DNM2):c.1840G>A (p.Asp614Asn)
NM_001005361.3(DNM2):c.1852G>A (p.Ala618Thr) rs773598203
NM_001005361.3(DNM2):c.1852G>T (p.Ala618Ser) rs773598203
NM_001005361.3(DNM2):c.1853C>A (p.Ala618Asp) rs1555715869
NM_001005361.3(DNM2):c.1856C>G (p.Ser619Trp) rs121909095
NM_001005361.3(DNM2):c.1856C>T (p.Ser619Leu) rs121909095
NM_001005361.3(DNM2):c.1862T>C (p.Leu621Pro) rs587783597
NM_001005361.3(DNM2):c.1880C>G (p.Pro627Arg) rs587783598
NM_001005361.3(DNM2):c.1893+1G>A rs2073061878
NM_001005361.3(DNM2):c.1948G>A (p.Glu650Lys) rs2073098775
NM_001005361.3(DNM2):c.197G>A (p.Arg66Gln) rs1568283807
NM_001005361.3(DNM2):c.2194G>A (p.Ala732Thr) rs1360529572
NM_001005361.3(DNM2):c.2292-8C>A rs757620658
NM_001005361.3(DNM2):c.2356G>T (p.Gly786Cys) rs1555717200
NM_001005361.3(DNM2):c.2358C>A (p.Gly786=) rs2073288383
NM_001005361.3(DNM2):c.2376_2378del (p.Leu793del) rs2073289554
NM_001005361.3(DNM2):c.2432C>T (p.Ser811Phe) rs2073292307
NM_001005361.3(DNM2):c.2438C>T (p.Pro813Leu) rs1382688319
NM_001005361.3(DNM2):c.2561C>T (p.Ala854Val) rs776073354
NM_001005361.3(DNM2):c.37G>C (p.Val13Leu)
NM_001005361.3(DNM2):c.4G>A (p.Gly2Ser) rs2068817566
NM_001005361.3(DNM2):c.625C>T (p.Leu209=) rs927749691
NM_001005361.3(DNM2):c.695T>C (p.Ile232Thr) rs749672066
NM_001005361.3(DNM2):c.823C>A (p.Pro275Thr) rs2071432774
NM_001005361.3(DNM2):c.982G>A (p.Ala328Thr) rs2145978260
NM_001077525.3(MTMR14):c.1174T>C (p.Phe392Leu) rs2076010767
NM_001077525.3(MTMR14):c.1888G>A (p.Gly630Arg)
NM_001077525.3(MTMR14):c.199C>T (p.Arg67Ter) rs754777692
NM_001100.4(ACTA1):c.443G>T (p.Gly148Val)
NM_001159699.2(FHL1):c.443G>T (p.Cys148Phe) rs122458143
NM_001267550.1(TTN):c.107867del rs878854372
NM_001267550.2(TTN):c.106374G>A (p.Lys35458=) rs2154132585
NM_001267550.2(TTN):c.107425del (p.Asp35809fs)
NM_001267550.2(TTN):c.107797G>C (p.Gly35933Arg) rs1575170417
NM_001267550.2(TTN):c.1507C>T (p.Gln503Ter)
NM_001267550.2(TTN):c.2099_2106dup (p.Ala703delinsLysLeuTer) rs2093158866
NM_001267550.2(TTN):c.30883G>T (p.Glu10295Ter)
NM_001267550.2(TTN):c.32312-1G>A rs2070649864
NM_001267550.2(TTN):c.42598_42599insG (p.Met14200fs) rs1553742630
NM_001267550.2(TTN):c.71980_71986delinsTA (p.Ala23994_Glu23996delinsTer) rs794729338
NM_001267550.2(TTN):c.97417del (p.Arg32473fs)
NM_001378030.1(CCDC78):c.1003G>C (p.Glu335Gln)
NM_001378030.1(CCDC78):c.1005A>G (p.Glu335=)
NM_001378030.1(CCDC78):c.1012C>A (p.Pro338Thr) rs951170993
NM_001378030.1(CCDC78):c.1014C>A (p.Pro338=) rs764805299
NM_001378030.1(CCDC78):c.1015G>A (p.Val339Met)
NM_001378030.1(CCDC78):c.1015G>T (p.Val339Leu) rs759037918
NM_001378030.1(CCDC78):c.101G>A (p.Gly34Glu) rs2040894714
NM_001378030.1(CCDC78):c.1033T>C (p.Phe345Leu) rs2040580658
NM_001378030.1(CCDC78):c.1037G>A (p.Ser346Asn)
NM_001378030.1(CCDC78):c.1042C>T (p.Arg348Trp)
NM_001378030.1(CCDC78):c.1043G>T (p.Arg348Leu) rs142170929
NM_001378030.1(CCDC78):c.1044G>A (p.Arg348=) rs1455517817
NM_001378030.1(CCDC78):c.1053+18C>G
NM_001378030.1(CCDC78):c.1053+18C>T
NM_001378030.1(CCDC78):c.1053+1G>A
NM_001378030.1(CCDC78):c.1053G>A (p.Gln351=)
NM_001378030.1(CCDC78):c.1054-15C>T
NM_001378030.1(CCDC78):c.1054-16C>A
NM_001378030.1(CCDC78):c.1054-19C>T
NM_001378030.1(CCDC78):c.1054-20C>G rs906009986
NM_001378030.1(CCDC78):c.1054-7T>A
NM_001378030.1(CCDC78):c.1065T>G (p.Pro355=)
NM_001378030.1(CCDC78):c.1066G>A (p.Gly356Arg)
NM_001378030.1(CCDC78):c.1067G>A (p.Gly356Glu) rs1567315670
NM_001378030.1(CCDC78):c.1070C>A (p.Ala357Glu)
NM_001378030.1(CCDC78):c.1070C>T (p.Ala357Val) rs767325446
NM_001378030.1(CCDC78):c.1074G>A (p.Leu358=)
NM_001378030.1(CCDC78):c.1075C>G (p.Leu359Val)
NM_001378030.1(CCDC78):c.1078T>C (p.Ser360Pro)
NM_001378030.1(CCDC78):c.107C>G (p.Thr36Ser) rs2040893951
NM_001378030.1(CCDC78):c.1081T>C (p.Ser361Pro)
NM_001378030.1(CCDC78):c.1090A>G (p.Lys364Glu)
NM_001378030.1(CCDC78):c.1099G>A (p.Gly367Ser) rs1021626011
NM_001378030.1(CCDC78):c.1102G>A (p.Gly368Arg)
NM_001378030.1(CCDC78):c.1110C>T (p.Ser370=)
NM_001378030.1(CCDC78):c.1113G>C (p.Gln371His)
NM_001378030.1(CCDC78):c.1114G>A (p.Gly372Arg) rs780209156
NM_001378030.1(CCDC78):c.1114G>C (p.Gly372Arg) rs780209156
NM_001378030.1(CCDC78):c.1120A>G (p.Thr374Ala)
NM_001378030.1(CCDC78):c.1133+10C>T
NM_001378030.1(CCDC78):c.1133+14T>A
NM_001378030.1(CCDC78):c.1133+14T>C
NM_001378030.1(CCDC78):c.1133+1G>C
NM_001378030.1(CCDC78):c.1133+3G>C
NM_001378030.1(CCDC78):c.1133+5G>C rs751889492
NM_001378030.1(CCDC78):c.1134-12C>T
NM_001378030.1(CCDC78):c.1134-131del rs35843452
NM_001378030.1(CCDC78):c.1134-14C>T
NM_001378030.1(CCDC78):c.1134-160dup rs548208034
NM_001378030.1(CCDC78):c.1134-16T>G
NM_001378030.1(CCDC78):c.1134-19C>T rs1320283995
NM_001378030.1(CCDC78):c.1134-20C>T
NM_001378030.1(CCDC78):c.1134-7C>T rs2151539558
NM_001378030.1(CCDC78):c.1144G>A (p.Ala382Thr)
NM_001378030.1(CCDC78):c.1174C>T (p.Leu392Phe)
NM_001378030.1(CCDC78):c.1178G>C (p.Arg393Pro) rs376513788
NM_001378030.1(CCDC78):c.1180G>A (p.Asp394Asn)
NM_001378030.1(CCDC78):c.1181A>G (p.Asp394Gly)
NM_001378030.1(CCDC78):c.1182C>T (p.Asp394=)
NM_001378030.1(CCDC78):c.1184T>C (p.Phe395Ser)
NM_001378030.1(CCDC78):c.1187C>G (p.Ser396Cys)
NM_001378030.1(CCDC78):c.1190G>C (p.Arg397Pro)
NM_001378030.1(CCDC78):c.1200+10A>C rs1320389377
NM_001378030.1(CCDC78):c.1200+10_1200+15del rs2040380247
NM_001378030.1(CCDC78):c.1200+12G>C
NM_001378030.1(CCDC78):c.1200+14_1200+18del
NM_001378030.1(CCDC78):c.1200+18G>A rs2040379831
NM_001378030.1(CCDC78):c.1200+9C>A rs907003896
NM_001378030.1(CCDC78):c.1201-14C>T
NM_001378030.1(CCDC78):c.1201-15A>T
NM_001378030.1(CCDC78):c.1201-7A>G
NM_001378030.1(CCDC78):c.1207C>T (p.Leu403=) rs941301878
NM_001378030.1(CCDC78):c.1213C>T (p.Arg405Trp) rs563037365
NM_001378030.1(CCDC78):c.1219C>T (p.Arg407Trp) rs773923207
NM_001378030.1(CCDC78):c.1235T>G (p.Val412Gly)
NM_001378030.1(CCDC78):c.1237C>G (p.Arg413Gly) rs780967551
NM_001378030.1(CCDC78):c.1252G>A (p.Glu418Lys) rs2151537413
NM_001378030.1(CCDC78):c.1277A>C (p.Glu426Ala) rs761180576
NM_001378030.1(CCDC78):c.1278_1286del (p.Glu426_Val428del)
NM_001378030.1(CCDC78):c.1279T>C (p.Tyr427His) rs558615304
NM_001378030.1(CCDC78):c.1282G>A (p.Val428Met)
NM_001378030.1(CCDC78):c.1287C>T (p.Asp429=) rs1403494570
NM_001378030.1(CCDC78):c.1288C>T (p.Gln430Ter)
NM_001378030.1(CCDC78):c.1292A>G (p.His431Arg)
NM_001378030.1(CCDC78):c.1298G>A (p.Gly433Asp)
NM_001378030.1(CCDC78):c.12A>G (p.Ala4=)
NM_001378030.1(CCDC78):c.1301+14G>A
NM_001378030.1(CCDC78):c.1301+2T>C
NM_001378030.1(CCDC78):c.1302-11C>T
NM_001378030.1(CCDC78):c.1302-19G>A
NM_001378030.1(CCDC78):c.1302-19G>T rs374237828
NM_001378030.1(CCDC78):c.1302-2_1302-1insC
NM_001378030.1(CCDC78):c.1306A>G (p.Lys436Glu)
NM_001378030.1(CCDC78):c.1307A>G (p.Lys436Arg)
NM_001378030.1(CCDC78):c.1308G>A (p.Lys436=)
NM_001378030.1(CCDC78):c.1311C>G (p.His437Gln)
NM_001378030.1(CCDC78):c.1311C>T (p.His437=) rs775569629
NM_001378030.1(CCDC78):c.1312G>A (p.Glu438Lys)
NM_001378030.1(CCDC78):c.1319T>C (p.Leu440Pro)
NM_001378030.1(CCDC78):c.139G>A (p.Val47Ile) rs892740041
NM_001378030.1(CCDC78):c.13G>C (p.Ala5Pro)
NM_001378030.1(CCDC78):c.14C>T (p.Ala5Val) rs2151579428
NM_001378030.1(CCDC78):c.156G>A (p.Ala52=)
NM_001378030.1(CCDC78):c.159C>T (p.Leu53=)
NM_001378030.1(CCDC78):c.15dup (p.Thr6fs) rs1389255956
NM_001378030.1(CCDC78):c.178C>G (p.Gln60Glu)
NM_001378030.1(CCDC78):c.180+10G>C
NM_001378030.1(CCDC78):c.180+11_180+12delinsTT rs373524109
NM_001378030.1(CCDC78):c.180+14C>A
NM_001378030.1(CCDC78):c.180+14C>T rs747340016
NM_001378030.1(CCDC78):c.180+19C>T rs12446058
NM_001378030.1(CCDC78):c.180+3G>T rs1483977509
NM_001378030.1(CCDC78):c.191_194dup (p.Val66fs) rs2040863479
NM_001378030.1(CCDC78):c.197T>G (p.Val66Gly)
NM_001378030.1(CCDC78):c.198C>G (p.Val66=)
NM_001378030.1(CCDC78):c.199G>A (p.Asp67Asn) rs374105211
NM_001378030.1(CCDC78):c.20C>T (p.Thr7Ile)
NM_001378030.1(CCDC78):c.219C>T (p.His73=) rs2151572538
NM_001378030.1(CCDC78):c.220C>T (p.His74Tyr) rs1248260858
NM_001378030.1(CCDC78):c.224T>C (p.Leu75Pro)
NM_001378030.1(CCDC78):c.229G>A (p.Glu77Lys)
NM_001378030.1(CCDC78):c.231G>A (p.Glu77=)
NM_001378030.1(CCDC78):c.249C>A (p.Ile83=)
NM_001378030.1(CCDC78):c.252C>G (p.Phe84Leu) rs766553371
NM_001378030.1(CCDC78):c.252C>T (p.Phe84=) rs766553371
NM_001378030.1(CCDC78):c.253C>T (p.Gln85Ter)
NM_001378030.1(CCDC78):c.258G>A (p.Leu86=) rs1190142185
NM_001378030.1(CCDC78):c.259A>G (p.Lys87Glu)
NM_001378030.1(CCDC78):c.261G>A (p.Lys87=)
NM_001378030.1(CCDC78):c.265G>A (p.Glu89Lys)
NM_001378030.1(CCDC78):c.267+1G>A
NM_001378030.1(CCDC78):c.267+1G>C
NM_001378030.1(CCDC78):c.267+20A>C
NM_001378030.1(CCDC78):c.267G>A (p.Glu89=) rs1246932109
NM_001378030.1(CCDC78):c.268-19C>T rs1396117099
NM_001378030.1(CCDC78):c.268-2_272del
NM_001378030.1(CCDC78):c.268-7C>T
NM_001378030.1(CCDC78):c.26C>T (p.Pro9Leu) rs1432188387
NM_001378030.1(CCDC78):c.275G>A (p.Arg92Gln) rs766279961
NM_001378030.1(CCDC78):c.279G>A (p.Leu93=)
NM_001378030.1(CCDC78):c.282G>A (p.Glu94=)
NM_001378030.1(CCDC78):c.283A>G (p.Ser95Gly)
NM_001378030.1(CCDC78):c.285C>G (p.Ser95Arg)
NM_001378030.1(CCDC78):c.287G>A (p.Arg96Gln)
NM_001378030.1(CCDC78):c.288G>A (p.Arg96=)
NM_001378030.1(CCDC78):c.295GAGCTG[3] (p.Leu102_Arg103insGluLeu)
NM_001378030.1(CCDC78):c.297G>A (p.Glu99=) rs200859995
NM_001378030.1(CCDC78):c.300G>A (p.Leu100=)
NM_001378030.1(CCDC78):c.310G>T (p.Gly104Ter)
NM_001378030.1(CCDC78):c.325C>T (p.Gln109Ter) rs1042253618
NM_001378030.1(CCDC78):c.328G>A (p.Gly110Ser)
NM_001378030.1(CCDC78):c.329G>A (p.Gly110Asp)
NM_001378030.1(CCDC78):c.329G>T (p.Gly110Val) rs369153172
NM_001378030.1(CCDC78):c.339C>T (p.Val113=)
NM_001378030.1(CCDC78):c.341C>G (p.Pro114Arg) rs749051279
NM_001378030.1(CCDC78):c.356C>A (p.Pro119His) rs750379614
NM_001378030.1(CCDC78):c.356C>G (p.Pro119Arg) rs750379614
NM_001378030.1(CCDC78):c.369G>A (p.Arg123=)
NM_001378030.1(CCDC78):c.371C>A (p.Ala124Glu)
NM_001378030.1(CCDC78):c.377C>T (p.Ala126Val)
NM_001378030.1(CCDC78):c.379C>G (p.Gln127Glu)
NM_001378030.1(CCDC78):c.384G>A (p.Glu128=)
NM_001378030.1(CCDC78):c.385C>A (p.Leu129Ile)
NM_001378030.1(CCDC78):c.400del (p.Gln134fs) rs758119082
NM_001378030.1(CCDC78):c.402G>A (p.Gln134=)
NM_001378030.1(CCDC78):c.406C>T (p.Pro136Ser)
NM_001378030.1(CCDC78):c.416C>T (p.Ser139Phe) rs374382609
NM_001378030.1(CCDC78):c.426_427del (p.His142fs)
NM_001378030.1(CCDC78):c.42C>G (p.Pro14=) rs368628654
NM_001378030.1(CCDC78):c.42C>T (p.Pro14=) rs368628654
NM_001378030.1(CCDC78):c.432C>T (p.Phe144=)
NM_001378030.1(CCDC78):c.435+13AT[3] rs2151566358
NM_001378030.1(CCDC78):c.435+17G>A rs752406944
NM_001378030.1(CCDC78):c.435+17G>C
NM_001378030.1(CCDC78):c.435+8T>C
NM_001378030.1(CCDC78):c.436-11C>T
NM_001378030.1(CCDC78):c.436-12C>T
NM_001378030.1(CCDC78):c.436-15C>G
NM_001378030.1(CCDC78):c.436-7C>G rs1567323012
NM_001378030.1(CCDC78):c.436-8C>T
NM_001378030.1(CCDC78):c.438G>A (p.Val146=)
NM_001378030.1(CCDC78):c.439C>T (p.Gln147Ter)
NM_001378030.1(CCDC78):c.441G>A (p.Gln147=)
NM_001378030.1(CCDC78):c.452C>T (p.Thr151Ile)
NM_001378030.1(CCDC78):c.463G>A (p.Glu155Lys) rs369344548
NM_001378030.1(CCDC78):c.467A>G (p.Asn156Ser) rs2151564305
NM_001378030.1(CCDC78):c.46C>G (p.Arg16Gly) rs746792512
NM_001378030.1(CCDC78):c.46C>T (p.Arg16Trp) rs746792512
NM_001378030.1(CCDC78):c.474G>A (p.Gln158=) rs1473631191
NM_001378030.1(CCDC78):c.477C>G (p.His159Gln)
NM_001378030.1(CCDC78):c.477C>T (p.His159=)
NM_001378030.1(CCDC78):c.47G>C (p.Arg16Pro) rs117949611
NM_001378030.1(CCDC78):c.488del (p.Ser163fs)
NM_001378030.1(CCDC78):c.489C>T (p.Ser163=)
NM_001378030.1(CCDC78):c.492+10C>T rs2151563812
NM_001378030.1(CCDC78):c.492+13C>T
NM_001378030.1(CCDC78):c.492+17C>T
NM_001378030.1(CCDC78):c.492+20G>A
NM_001378030.1(CCDC78):c.493-13G>A
NM_001378030.1(CCDC78):c.493C>T (p.Leu165=) rs1361254201
NM_001378030.1(CCDC78):c.495G>A (p.Leu165=) rs2151562636
NM_001378030.1(CCDC78):c.499G>A (p.Gly167Arg) rs2040740740
NM_001378030.1(CCDC78):c.49C>G (p.Arg17Gly)
NM_001378030.1(CCDC78):c.502G>C (p.Glu168Gln) rs777794522
NM_001378030.1(CCDC78):c.508_512del (p.Lys170fs) rs1466789176
NM_001378030.1(CCDC78):c.509A>G (p.Lys170Arg) rs1555486210
NM_001378030.1(CCDC78):c.50G>A (p.Arg17Gln) rs1046402338
NM_001378030.1(CCDC78):c.50G>C (p.Arg17Pro)
NM_001378030.1(CCDC78):c.50G>T (p.Arg17Leu) rs1046402338
NM_001378030.1(CCDC78):c.515C>T (p.Ala172Val)
NM_001378030.1(CCDC78):c.517C>G (p.Leu173Val)
NM_001378030.1(CCDC78):c.51G>T (p.Arg17=) rs949623191
NM_001378030.1(CCDC78):c.523C>G (p.His175Asp)
NM_001378030.1(CCDC78):c.535C>A (p.Arg179=)
NM_001378030.1(CCDC78):c.545C>T (p.Ala182Val) rs1000549010
NM_001378030.1(CCDC78):c.548T>C (p.Leu183Pro)
NM_001378030.1(CCDC78):c.548_549delinsGA (p.Leu183Arg) rs2151561882
NM_001378030.1(CCDC78):c.553_554delinsTA (p.Thr185Ter)
NM_001378030.1(CCDC78):c.555G>A (p.Thr185=)
NM_001378030.1(CCDC78):c.558T>C (p.Arg186=)
NM_001378030.1(CCDC78):c.560+17C>T
NM_001378030.1(CCDC78):c.560_560+3del
NM_001378030.1(CCDC78):c.561-10G>A
NM_001378030.1(CCDC78):c.561-15C>T
NM_001378030.1(CCDC78):c.561-19C>G
NM_001378030.1(CCDC78):c.571_582del (p.Gly191_Leu194del) rs1035417733
NM_001378030.1(CCDC78):c.580C>T (p.Leu194=) rs2151560388
NM_001378030.1(CCDC78):c.585G>A (p.Gln195=) rs1192759468
NM_001378030.1(CCDC78):c.592C>G (p.Arg198Gly)
NM_001378030.1(CCDC78):c.592C>T (p.Arg198Ter)
NM_001378030.1(CCDC78):c.598G>A (p.Glu200Lys) rs1031306587
NM_001378030.1(CCDC78):c.60+20C>G
NM_001378030.1(CCDC78):c.60+2T>C rs1289274795
NM_001378030.1(CCDC78):c.60+3G>A
NM_001378030.1(CCDC78):c.604A>G (p.Arg202Gly)
NM_001378030.1(CCDC78):c.61-13G>A
NM_001378030.1(CCDC78):c.61-13G>T
NM_001378030.1(CCDC78):c.61-16G>A
NM_001378030.1(CCDC78):c.61-2A>G
NM_001378030.1(CCDC78):c.61-6C>A
NM_001378030.1(CCDC78):c.611C>A (p.Ala204Asp) rs2040706093
NM_001378030.1(CCDC78):c.615G>A (p.Gly205=)
NM_001378030.1(CCDC78):c.615G>T (p.Gly205=) rs2040704923
NM_001378030.1(CCDC78):c.616C>T (p.Gln206Ter)
NM_001378030.1(CCDC78):c.619C>T (p.Arg207Ter)
NM_001378030.1(CCDC78):c.620G>C (p.Arg207Pro)
NM_001378030.1(CCDC78):c.639+13C>T rs1312612578
NM_001378030.1(CCDC78):c.639+17_639+20del rs746844399
NM_001378030.1(CCDC78):c.639+4A>G
NM_001378030.1(CCDC78):c.640-17G>A rs1020697264
NM_001378030.1(CCDC78):c.640-5C>T rs1814238789
NM_001378030.1(CCDC78):c.645G>A (p.Leu215=)
NM_001378030.1(CCDC78):c.648C>T (p.Cys216=)
NM_001378030.1(CCDC78):c.667C>T (p.Arg223Cys)
NM_001378030.1(CCDC78):c.668G>T (p.Arg223Leu)
NM_001378030.1(CCDC78):c.669T>C (p.Arg223=)
NM_001378030.1(CCDC78):c.671A>G (p.Gln224Arg)
NM_001378030.1(CCDC78):c.679G>T (p.Ala227Ser)
NM_001378030.1(CCDC78):c.680C>T (p.Ala227Val)
NM_001378030.1(CCDC78):c.688G>A (p.Ala230Thr)
NM_001378030.1(CCDC78):c.691C>G (p.Arg231Gly) rs527479144
NM_001378030.1(CCDC78):c.691C>T (p.Arg231Trp)
NM_001378030.1(CCDC78):c.692G>A (p.Arg231Gln) rs147504073
NM_001378030.1(CCDC78):c.692G>T (p.Arg231Leu) rs147504073
NM_001378030.1(CCDC78):c.703_708dup (p.233QL[3]) rs1392358219
NM_001378030.1(CCDC78):c.717G>A (p.Leu239=)
NM_001378030.1(CCDC78):c.71G>A (p.Arg24Gln)
NM_001378030.1(CCDC78):c.726G>A (p.Glu242=) rs1012692311
NM_001378030.1(CCDC78):c.732C>T (p.Val244=)
NM_001378030.1(CCDC78):c.736C>T (p.Arg246Trp) rs749095737
NM_001378030.1(CCDC78):c.73G>A (p.Ala25Thr)
NM_001378030.1(CCDC78):c.741G>A (p.Leu247=) rs1211222717
NM_001378030.1(CCDC78):c.750C>T (p.Cys250=)
NM_001378030.1(CCDC78):c.752C>A (p.Ala251Asp)
NM_001378030.1(CCDC78):c.754_755inv (p.Trp252Gln)
NM_001378030.1(CCDC78):c.758A>G (p.Gln253Arg) rs1438721597
NM_001378030.1(CCDC78):c.765+10G>A
NM_001378030.1(CCDC78):c.765+11C>G
NM_001378030.1(CCDC78):c.765+13G>A
NM_001378030.1(CCDC78):c.765+17C>T
NM_001378030.1(CCDC78):c.765+7C>T
NM_001378030.1(CCDC78):c.766-19C>A
NM_001378030.1(CCDC78):c.769C>T (p.His257Tyr) rs1160240030
NM_001378030.1(CCDC78):c.771C>G (p.His257Gln) rs747763912
NM_001378030.1(CCDC78):c.778G>A (p.Gly260Ser)
NM_001378030.1(CCDC78):c.780T>C (p.Gly260=) rs1596618345
NM_001378030.1(CCDC78):c.782C>G (p.Ala261Gly) rs1328091861
NM_001378030.1(CCDC78):c.791C>T (p.Ala264Val)
NM_001378030.1(CCDC78):c.798C>G (p.Ala266=)
NM_001378030.1(CCDC78):c.801C>T (p.Thr267=) rs1596618143
NM_001378030.1(CCDC78):c.805del (p.Ala269fs)
NM_001378030.1(CCDC78):c.80A>G (p.Asp27Gly) rs2040895994
NM_001378030.1(CCDC78):c.831T>G (p.Thr277=)
NM_001378030.1(CCDC78):c.837G>A (p.Glu279=)
NM_001378030.1(CCDC78):c.838G>A (p.Asp280Asn)
NM_001378030.1(CCDC78):c.844C>G (p.Arg282Gly) rs747752625
NM_001378030.1(CCDC78):c.846G>C (p.Arg282=) rs2151554557
NM_001378030.1(CCDC78):c.852G>A (p.Ala284=)
NM_001378030.1(CCDC78):c.852G>C (p.Ala284=) rs561702421
NM_001378030.1(CCDC78):c.860G>A (p.Ser287Asn)
NM_001378030.1(CCDC78):c.860G>C (p.Ser287Thr) rs1688583528
NM_001378030.1(CCDC78):c.862C>A (p.Arg288Ser)
NM_001378030.1(CCDC78):c.886G>T (p.Ala296Ser)
NM_001378030.1(CCDC78):c.893G>C (p.Ser298Thr) rs770130604
NM_001378030.1(CCDC78):c.897C>A (p.Tyr299Ter) rs1203607617
NM_001378030.1(CCDC78):c.898_900del (p.His300del) rs771582682
NM_001378030.1(CCDC78):c.902A>G (p.Lys301Arg) rs2040618422
NM_001378030.1(CCDC78):c.906G>A (p.Arg302=)
NM_001378030.1(CCDC78):c.913G>T (p.Asp305Tyr)
NM_001378030.1(CCDC78):c.922_923delinsGA (p.Arg308Asp)
NM_001378030.1(CCDC78):c.924C>A (p.Arg308=) rs2040615574
NM_001378030.1(CCDC78):c.924C>T (p.Arg308=) rs2040615574
NM_001378030.1(CCDC78):c.929A>G (p.His310Arg) rs2040614811
NM_001378030.1(CCDC78):c.947C>T (p.Ala316Val) rs2151553309
NM_001378030.1(CCDC78):c.94G>A (p.Ala32Thr)
NM_001378030.1(CCDC78):c.953+15del rs751454157
NM_001378030.1(CCDC78):c.953+19G>A
NM_001378030.1(CCDC78):c.953+1G>A
NM_001378030.1(CCDC78):c.953+20del
NM_001378030.1(CCDC78):c.953+3G>A rs2040612115
NM_001378030.1(CCDC78):c.953+4G>A
NM_001378030.1(CCDC78):c.953+6C>T
NM_001378030.1(CCDC78):c.954-5G>A
NM_001378030.1(CCDC78):c.954G>A (p.Arg318=) rs2040592459
NM_001378030.1(CCDC78):c.955_956delinsAA (p.Ala319Lys) rs2040592043
NM_001378030.1(CCDC78):c.958C>T (p.Pro320Ser)
NM_001378030.1(CCDC78):c.959C>T (p.Pro320Leu)
NM_001378030.1(CCDC78):c.969C>A (p.Pro323=) rs2151551775
NM_001378030.1(CCDC78):c.986T>C (p.Ile329Thr)
NM_001378030.1(CCDC78):c.991A>G (p.Ser331Gly)
NM_001378030.1(CCDC78):c.994T>C (p.Leu332=)
NM_001378030.1(CCDC78):c.999C>G (p.Asp333Glu) rs1450643801
NM_001378030.1(CCDC78):c.9C>T (p.His3=) rs1355024482
NM_002469.3(MYF6):c.104C>T (p.Pro35Leu) rs2121343603
NM_002469.3(MYF6):c.145C>G (p.Pro49Ala)
NM_002469.3(MYF6):c.176A>T (p.Glu59Val) rs1332444958
NM_002469.3(MYF6):c.183T>G (p.His61Gln) rs776368255
NM_002469.3(MYF6):c.273dup (p.Thr92fs) rs768710318
NM_002469.3(MYF6):c.280C>T (p.Arg94Trp) rs1188507871
NM_002469.3(MYF6):c.294C>T (p.Ala98=) rs753157281
NM_002469.3(MYF6):c.352C>G (p.Arg118Gly) rs34563783
NM_002469.3(MYF6):c.459G>C (p.Gln153His) rs1868399214
NM_002469.3(MYF6):c.478C>T (p.Leu160=) rs368477055
NM_002469.3(MYF6):c.511C>G (p.Gln171Glu) rs1013493242
NM_002469.3(MYF6):c.587G>A (p.Gly196Glu) rs750182640
NM_002469.3(MYF6):c.691C>G (p.Arg231Gly) rs1408693660
NM_002478.5(MYOD1):c.557dup (p.Arg188fs) rs1179926739
NM_005876.5(SPEG):c.1114C>G (p.Arg372Gly)
NM_005876.5(SPEG):c.1625C>A (p.Pro542His) rs927960851
NM_005876.5(SPEG):c.2183del (p.Leu728fs) rs1575065895
NM_005876.5(SPEG):c.2372G>A (p.Ser791Asn)
NM_005876.5(SPEG):c.257C>G (p.Pro86Arg)
NM_005876.5(SPEG):c.2915_2916delinsA (p.Ala972fs) rs587777675
NM_005876.5(SPEG):c.3074A>G (p.Lys1025Arg)
NM_005876.5(SPEG):c.340C>T (p.Arg114Trp) rs570323054
NM_005876.5(SPEG):c.3517A>C (p.Ile1173Leu)
NM_005876.5(SPEG):c.3564T>C (p.Pro1188=) rs10167209
NM_005876.5(SPEG):c.3709_3715+29del rs587777674
NM_005876.5(SPEG):c.4117C>G (p.Pro1373Ala) rs200713879
NM_005876.5(SPEG):c.4276C>T (p.Arg1426Ter) rs587777673
NM_005876.5(SPEG):c.4360_4375del (p.Val1454fs)
NM_005876.5(SPEG):c.4362G>T (p.Val1454=)
NM_005876.5(SPEG):c.4377G>A (p.Met1459Ile)
NM_005876.5(SPEG):c.4660G>A (p.Val1554Ile)
NM_005876.5(SPEG):c.5707C>T (p.Arg1903Trp)
NM_005876.5(SPEG):c.5708G>A (p.Arg1903Gln)
NM_005876.5(SPEG):c.6415C>G (p.Arg2139Gly)
NM_005876.5(SPEG):c.6422G>C (p.Arg2141Pro)
NM_005876.5(SPEG):c.6618dup (p.Ala2207fs)
NM_005876.5(SPEG):c.6697C>A (p.Gln2233Lys) rs587777672
NM_005876.5(SPEG):c.6697C>T (p.Gln2233Ter) rs587777672
NM_005876.5(SPEG):c.6739_6740delinsTT (p.Gln2247Leu) rs2125558050
NM_005876.5(SPEG):c.6971T>A (p.Ile2324Asn) rs201170917
NM_005876.5(SPEG):c.7262_7280dup (p.Ala2428fs)
NM_005876.5(SPEG):c.7447C>T (p.Arg2483Cys)
NM_005876.5(SPEG):c.7795G>T (p.Glu2599Ter)
NM_005876.5(SPEG):c.7847_7849del (p.Ser2616del)
NM_005876.5(SPEG):c.7940C>A (p.Ala2647Glu)
NM_005876.5(SPEG):c.8009G>A (p.Cys2670Tyr)
NM_005876.5(SPEG):c.800C>A (p.Ala267Glu) rs762057369
NM_005876.5(SPEG):c.8047C>T (p.Pro2683Ser)
NM_005876.5(SPEG):c.8270G>T (p.Gly2757Val) rs587777676
NM_005876.5(SPEG):c.8290G>C (p.Glu2764Gln)
NM_005876.5(SPEG):c.851C>T (p.Pro284Leu)
NM_005876.5(SPEG):c.8839C>T (p.Arg2947Ter) rs768300296
NM_005876.5(SPEG):c.8872C>T (p.Arg2958Ter)
NM_005876.5(SPEG):c.8965_8989dup (p.Val2997fs) rs1575201712
NM_005876.5(SPEG):c.9004G>T (p.Glu3002Ter)
NM_005876.5(SPEG):c.9028_9030del (p.Glu3010del) rs1575202038
NM_005876.5(SPEG):c.9134G>A (p.Arg3045Gln)
NM_005876.5(SPEG):c.9346A>G (p.Arg3116Gly)
NM_005876.5(SPEG):c.9389C>T (p.Pro3130Leu) rs1376293618
NM_005876.5(SPEG):c.9575C>A (p.Thr3192Asn) rs534715710
NM_014009.4(FOXP3):c.116_122dup (p.Gly43fs)
NM_015602.4(TOR1AIP1):c.63dup (p.Arg22fs)
NM_016213.5(TRIP4):c.1199del (p.Gln400fs)
NM_016213.5(TRIP4):c.55_56insCT (p.Gln19fs)
NM_016653.3(MAP3K20):c.1360-14_1360-9del rs150855284
NM_016653.3(MAP3K20):c.1592C>T (p.Ser531Leu) rs3769148
NM_016653.3(MAP3K20):c.282dup (p.Asn95Ter) rs1553576774
NM_016653.3(MAP3K20):c.515G>A (p.Trp172Ter) rs1553578407
NM_130837.3(OPA1):c.1499G>A (p.Arg500His) rs80356529
NM_138638.5(CFL2):c.242G>A (p.Arg81Gln) rs1885381246
NM_139343.2(BIN1):c.-366C>A rs886054843
NM_139343.3(BIN1):c.*194C>T rs565856632
NM_139343.3(BIN1):c.*214G>A rs886054832
NM_139343.3(BIN1):c.*247G>T rs1334404831
NM_139343.3(BIN1):c.*479del rs367627116
NM_139343.3(BIN1):c.*55G>A rs886054833
NM_139343.3(BIN1):c.*82C>A rs111649895
NM_139343.3(BIN1):c.*82C>T rs111649895
NM_139343.3(BIN1):c.-105G>T rs575072529
NM_139343.3(BIN1):c.-114del rs886054837
NM_139343.3(BIN1):c.-146C>G rs1462553382
NM_139343.3(BIN1):c.-177_-174dup rs886054838
NM_139343.3(BIN1):c.-192G>A rs886054839
NM_139343.3(BIN1):c.-197C>A rs886054840
NM_139343.3(BIN1):c.1002+12G>T
NM_139343.3(BIN1):c.1002+14C>T
NM_139343.3(BIN1):c.1002+2T>C rs1553458019
NM_139343.3(BIN1):c.1018C>G (p.Pro340Ala)
NM_139343.3(BIN1):c.1020A>G (p.Pro340=)
NM_139343.3(BIN1):c.1028C>T (p.Pro343Leu)
NM_139343.3(BIN1):c.1041C>T (p.His347=)
NM_139343.3(BIN1):c.1051A>G (p.Lys351Glu)
NM_139343.3(BIN1):c.1052A>C (p.Lys351Thr)
NM_139343.3(BIN1):c.105G>T (p.Lys35Asn) rs121909273
NM_139343.3(BIN1):c.1060A>G (p.Lys354Glu) rs886043420
NM_139343.3(BIN1):c.1077C>T (p.Leu359=)
NM_139343.3(BIN1):c.1092C>G (p.Asp364Glu)
NM_139343.3(BIN1):c.1111A>G (p.Ser371Gly) rs1553456782
NM_139343.3(BIN1):c.1113C>G (p.Ser371Arg)
NM_139343.3(BIN1):c.1121C>T (p.Thr374Ile)
NM_139343.3(BIN1):c.1122C>T (p.Thr374=) rs1386270090
NM_139343.3(BIN1):c.1124C>G (p.Pro375Arg) rs2104935838
NM_139343.3(BIN1):c.1124C>T (p.Pro375Leu)
NM_139343.3(BIN1):c.1131+13C>T
NM_139343.3(BIN1):c.1131+14_1131+22del rs751183383
NM_139343.3(BIN1):c.1131+16C>T
NM_139343.3(BIN1):c.1131+18C>A rs191760397
NM_139343.3(BIN1):c.1131+7_1131+26del rs555116802
NM_139343.3(BIN1):c.1131+8G>T
NM_139343.3(BIN1):c.1132-12G>C
NM_139343.3(BIN1):c.1132-22TGC[7] rs748026377
NM_139343.3(BIN1):c.1132-22TGC[8] rs748026377
NM_139343.3(BIN1):c.1132-2A>G rs1295546366
NM_139343.3(BIN1):c.1132-5C>T
NM_139343.3(BIN1):c.1132-8C>T rs1573549844
NM_139343.3(BIN1):c.1137G>T (p.Glu379Asp)
NM_139343.3(BIN1):c.1145G>A (p.Gly382Glu)
NM_139343.3(BIN1):c.1147C>A (p.Pro383Thr) rs1573549506
NM_139343.3(BIN1):c.1147C>T (p.Pro383Ser) rs1573549506
NM_139343.3(BIN1):c.1155G>A (p.Ser385=)
NM_139343.3(BIN1):c.1159C>G (p.Gln387Glu)
NM_139343.3(BIN1):c.1162G>A (p.Ala388Thr)
NM_139343.3(BIN1):c.1166G>C (p.Ser389Thr) rs1683302135
NM_139343.3(BIN1):c.11T>C (p.Met4Thr)
NM_139343.3(BIN1):c.1200C>T (p.Pro400=)
NM_139343.3(BIN1):c.1201G>A (p.Val401Met)
NM_139343.3(BIN1):c.1206G>A (p.Thr402=)
NM_139343.3(BIN1):c.1208G>A (p.Ser403Asn)
NM_139343.3(BIN1):c.1213G>A (p.Val405Met)
NM_139343.3(BIN1):c.1218G>A (p.Lys406=)
NM_139343.3(BIN1):c.1219G>A (p.Ala407Thr)
NM_139343.3(BIN1):c.1227G>A (p.Thr409=)
NM_139343.3(BIN1):c.1228C>T (p.Pro410Ser)
NM_139343.3(BIN1):c.1239+10G>A
NM_139343.3(BIN1):c.1239+13C>T
NM_139343.3(BIN1):c.1239+15_1239+24del rs964389278
NM_139343.3(BIN1):c.1239+16C>A rs550357998
NM_139343.3(BIN1):c.1239+17A>G
NM_139343.3(BIN1):c.1240-20G>A rs377476606
NM_139343.3(BIN1):c.1240-20G>T
NM_139343.3(BIN1):c.1240-6G>A rs548956444
NM_139343.3(BIN1):c.1240-6G>T rs548956444
NM_139343.3(BIN1):c.1240-7C>A
NM_139343.3(BIN1):c.1240-9T>C rs1360673670
NM_139343.3(BIN1):c.1248A>C (p.Pro416=)
NM_139343.3(BIN1):c.1251G>A (p.Trp417Ter) rs2104891817
NM_139343.3(BIN1):c.1251G>C (p.Trp417Cys)
NM_139343.3(BIN1):c.1263+12G>A
NM_139343.3(BIN1):c.1264-11_1270del rs776737413
NM_139343.3(BIN1):c.1264-12G>T rs765093822
NM_139343.3(BIN1):c.1264-16C>T
NM_139343.3(BIN1):c.1286G>A (p.Ser429Asn)
NM_139343.3(BIN1):c.1291C>T (p.Pro431Ser)
NM_139343.3(BIN1):c.1296C>T (p.Ser432=)
NM_139343.3(BIN1):c.1303C>A (p.Pro435Thr) rs1240564481
NM_139343.3(BIN1):c.1317G>A (p.Glu439=)
NM_139343.3(BIN1):c.1326T>G (p.Phe442Leu)
NM_139343.3(BIN1):c.1328C>T (p.Ala443Val) rs758494519
NM_139343.3(BIN1):c.1334C>A (p.Ser445Tyr) rs1158338100
NM_139343.3(BIN1):c.1334C>T (p.Ser445Phe)
NM_139343.3(BIN1):c.1335C>T (p.Ser445=)
NM_139343.3(BIN1):c.1342A>C (p.Ser448Arg)
NM_139343.3(BIN1):c.1349C>A (p.Thr450Lys) rs750715069
NM_139343.3(BIN1):c.1349C>T (p.Thr450Met)
NM_139343.3(BIN1):c.1352C>A (p.Ala451Asp)
NM_139343.3(BIN1):c.1353C>G (p.Ala451=) rs552244334
NM_139343.3(BIN1):c.1362G>C (p.Gly454=) rs61748155
NM_139343.3(BIN1):c.1366G>A (p.Ala456Thr)
NM_139343.3(BIN1):c.1371+10C>G rs1573539169
NM_139343.3(BIN1):c.1371+13C>T
NM_139343.3(BIN1):c.1372-15G>A
NM_139343.3(BIN1):c.1372-17C>T
NM_139343.3(BIN1):c.1372-1G>A rs1682909859
NM_139343.3(BIN1):c.1382C>T (p.Ala461Val)
NM_139343.3(BIN1):c.1395G>A (p.Ala465=) rs765870974
NM_139343.3(BIN1):c.1395G>C (p.Ala465=) rs765870974
NM_139343.3(BIN1):c.1398T>C (p.Gly466=)
NM_139343.3(BIN1):c.1399G>A (p.Gly467Arg)
NM_139343.3(BIN1):c.139T>C (p.Cys47Arg)
NM_139343.3(BIN1):c.1408C>G (p.Pro470Ala)
NM_139343.3(BIN1):c.1413G>A (p.Ala471=)
NM_139343.3(BIN1):c.1429C>A (p.Pro477Thr)
NM_139343.3(BIN1):c.142G>A (p.Val48Ile)
NM_139343.3(BIN1):c.1435G>A (p.Glu479Lys) rs865803817
NM_139343.3(BIN1):c.1439C>A (p.Thr480Lys)
NM_139343.3(BIN1):c.1461+16C>T rs2104866756
NM_139343.3(BIN1):c.1461+20G>A rs2104866729
NM_139343.3(BIN1):c.1462-13C>T
NM_139343.3(BIN1):c.1470del (p.Pro491fs)
NM_139343.3(BIN1):c.1472del (p.Pro491fs) rs1682848303
NM_139343.3(BIN1):c.1478T>C (p.Val493Ala) rs1682847067
NM_139343.3(BIN1):c.1483G>T (p.Val495Leu) rs1191840422
NM_139343.3(BIN1):c.1492T>C (p.Phe498Leu)
NM_139343.3(BIN1):c.1494C>T (p.Phe498=)
NM_139343.3(BIN1):c.14_15delinsAG (p.Gly5Glu)
NM_139343.3(BIN1):c.1510G>A (p.Gly504Ser)
NM_139343.3(BIN1):c.1515C>G (p.Thr505=) rs375583449
NM_139343.3(BIN1):c.1515C>T (p.Thr505=) rs375583449
NM_139343.3(BIN1):c.1524C>T (p.Gly508=)
NM_139343.3(BIN1):c.152T>G (p.Phe51Cys)
NM_139343.3(BIN1):c.1532G>A (p.Gly511Glu)
NM_139343.3(BIN1):c.1557A>C (p.Pro519=)
NM_139343.3(BIN1):c.155A>T (p.Asn52Ile)
NM_139343.3(BIN1):c.1560T>G (p.Gly520=) rs1573530113
NM_139343.3(BIN1):c.156C>T (p.Asn52=)
NM_139343.3(BIN1):c.1573-13G>A
NM_139343.3(BIN1):c.1573-19C>T
NM_139343.3(BIN1):c.1573-63C>T rs7558000
NM_139343.3(BIN1):c.1573-72C>T rs7558001
NM_139343.3(BIN1):c.1577A>G (p.Gln526Arg) rs886043878
NM_139343.3(BIN1):c.1580C>T (p.Ala527Val) rs2104859449
NM_139343.3(BIN1):c.1583A>G (p.Gln528Arg)
NM_139343.3(BIN1):c.1595C>A (p.Thr532Lys)
NM_139343.3(BIN1):c.1601C>G (p.Thr534Ser)
NM_139343.3(BIN1):c.1607C>T (p.Thr536Ile) rs773732601
NM_139343.3(BIN1):c.160C>G (p.Gln54Glu)
NM_139343.3(BIN1):c.1620G>T (p.Gln540His)
NM_139343.3(BIN1):c.1635T>G (p.Asp545Glu) rs1445898966
NM_139343.3(BIN1):c.1645G>A (p.Val549Met)
NM_139343.3(BIN1):c.165+11G>T
NM_139343.3(BIN1):c.165+13G>A rs2105143217
NM_139343.3(BIN1):c.165+17C>T
NM_139343.3(BIN1):c.165+1G>A
NM_139343.3(BIN1):c.165+20G>A
NM_139343.3(BIN1):c.166-10C>T
NM_139343.3(BIN1):c.166-16G>T
NM_139343.3(BIN1):c.166-20C>A
NM_139343.3(BIN1):c.1663C>T (p.Pro555Ser)
NM_139343.3(BIN1):c.1672C>A (p.Gln558Lys) rs1682762039
NM_139343.3(BIN1):c.1674+13T>A
NM_139343.3(BIN1):c.1674+19C>T
NM_139343.3(BIN1):c.1674+7G>C
NM_139343.3(BIN1):c.1675-14G>A
NM_139343.3(BIN1):c.1675-16G>A
NM_139343.3(BIN1):c.1675-20C>G
NM_139343.3(BIN1):c.1675-2A>G
NM_139343.3(BIN1):c.1675-9G>A
NM_139343.3(BIN1):c.1675G>A (p.Asp559Asn)
NM_139343.3(BIN1):c.167C>T (p.Thr56Met)
NM_139343.3(BIN1):c.1682G>C (p.Gly561Ala)
NM_139343.3(BIN1):c.168G>A (p.Thr56=) rs528828320
NM_139343.3(BIN1):c.1692G>A (p.Met564Ile)
NM_139343.3(BIN1):c.1695C>A (p.Gly565=)
NM_139343.3(BIN1):c.1695C>T (p.Gly565=)
NM_139343.3(BIN1):c.1696G>T (p.Val566Leu) rs761759946
NM_139343.3(BIN1):c.1707C>T (p.Ser569=)
NM_139343.3(BIN1):c.1708G>A (p.Asp570Asn) rs368983991
NM_139343.3(BIN1):c.1712G>A (p.Trp571Ter)
NM_139343.3(BIN1):c.1713G>A (p.Trp571Ter) rs587783343
NM_139343.3(BIN1):c.1723A>T (p.Lys575Ter) rs121909275
NM_139343.3(BIN1):c.1726_1727delinsTT (p.Glu576Leu) rs2104840053
NM_139343.3(BIN1):c.1727A>T (p.Glu576Val) rs775119768
NM_139343.3(BIN1):c.173G>T (p.Gly58Val) rs1282156307
NM_139343.3(BIN1):c.1742G>A (p.Arg581His)
NM_139343.3(BIN1):c.1746C>T (p.Gly582=)
NM_139343.3(BIN1):c.1752C>T (p.Phe584=) rs1422298151
NM_139343.3(BIN1):c.1755C>T (p.Pro585=)
NM_139343.3(BIN1):c.1766C>T (p.Thr589Ile)
NM_139343.3(BIN1):c.1771A>G (p.Arg591Gly) rs2104839547
NM_139343.3(BIN1):c.1773G>A (p.Arg591=)
NM_139343.3(BIN1):c.1774G>T (p.Val592Phe)
NM_139343.3(BIN1):c.1778C>T (p.Pro593Leu)
NM_139343.3(BIN1):c.177C>G (p.Thr59=)
NM_139343.3(BIN1):c.179G>A (p.Arg60Gln) rs1558835946
NM_139343.3(BIN1):c.193C>A (p.Leu65Ile) rs2105078067
NM_139343.3(BIN1):c.196C>T (p.Arg66Trp)
NM_139343.3(BIN1):c.197G>A (p.Arg66Gln)
NM_139343.3(BIN1):c.213C>G (p.Ser71=)
NM_139343.3(BIN1):c.213C>T (p.Ser71=) rs560078675
NM_139343.3(BIN1):c.220+11G>A
NM_139343.3(BIN1):c.220+15_220+21del
NM_139343.3(BIN1):c.220+19G>A rs775915004
NM_139343.3(BIN1):c.220+4G>A
NM_139343.3(BIN1):c.221-10T>C
NM_139343.3(BIN1):c.222C>T (p.Ala74=) rs2105076332
NM_139343.3(BIN1):c.224T>C (p.Met75Thr) rs1024658796
NM_139343.3(BIN1):c.229G>A (p.Glu77Lys) rs1685759135
NM_139343.3(BIN1):c.229G>T (p.Glu77Ter)
NM_139343.3(BIN1):c.236C>T (p.Ser79Phe) rs1377099769
NM_139343.3(BIN1):c.239A>G (p.Lys80Arg)
NM_139343.3(BIN1):c.252G>A (p.Glu84=)
NM_139343.3(BIN1):c.259C>T (p.Gln87Ter) rs2105075896
NM_139343.3(BIN1):c.277G>A (p.Asp93Asn) rs774273606
NM_139343.3(BIN1):c.279T>A (p.Asp93Glu) rs770994335
NM_139343.3(BIN1):c.27G>A (p.Val9=)
NM_139343.3(BIN1):c.284C>T (p.Pro95Leu)
NM_139343.3(BIN1):c.285C>A (p.Pro95=) rs377467117
NM_139343.3(BIN1):c.289A>G (p.Arg97Gly)
NM_139343.3(BIN1):c.29C>A (p.Thr10Lys) rs1681237812
NM_139343.3(BIN1):c.29C>T (p.Thr10Met)
NM_139343.3(BIN1):c.309C>A (p.Ile103=)
NM_139343.3(BIN1):c.310G>A (p.Ala104Thr) rs754932468
NM_139343.3(BIN1):c.310G>T (p.Ala104Ser)
NM_139343.3(BIN1):c.313G>A (p.Glu105Lys) rs1685745258
NM_139343.3(BIN1):c.313_314delinsTT (p.Glu105Leu)
NM_139343.3(BIN1):c.315+3G>C rs764821578
NM_139343.3(BIN1):c.315+7A>C rs1573647825
NM_139343.3(BIN1):c.316-11G>T
NM_139343.3(BIN1):c.316-15T>C
NM_139343.3(BIN1):c.316-20C>T
NM_139343.3(BIN1):c.316-8T>A
NM_139343.3(BIN1):c.329T>A (p.Leu110Gln) rs2105070437
NM_139343.3(BIN1):c.330G>C (p.Leu110=) rs746946704
NM_139343.3(BIN1):c.345C>T (p.His115=)
NM_139343.3(BIN1):c.363G>C (p.Gln121His)
NM_139343.3(BIN1):c.366G>A (p.Ala122=)
NM_139343.3(BIN1):c.376A>G (p.Met126Val)
NM_139343.3(BIN1):c.380A>G (p.Asp127Gly)
NM_139343.3(BIN1):c.382_383dup (p.Tyr129fs) rs761813363
NM_139343.3(BIN1):c.385T>C (p.Tyr129His) rs2105069995
NM_139343.3(BIN1):c.399C>T (p.Phe133=) rs755303195
NM_139343.3(BIN1):c.403G>A (p.Asp135Asn)
NM_139343.3(BIN1):c.404A>G (p.Asp135Gly)
NM_139343.3(BIN1):c.411+15T>G
NM_139343.3(BIN1):c.411+19G>C
NM_139343.3(BIN1):c.411+1G>T
NM_139343.3(BIN1):c.411+5G>C
NM_139343.3(BIN1):c.412-11G>C rs2105059266
NM_139343.3(BIN1):c.412-15C>T
NM_139343.3(BIN1):c.412-4C>T
NM_139343.3(BIN1):c.418A>C (p.Ile140Leu) rs1407049344
NM_139343.3(BIN1):c.427C>T (p.Arg143Trp)
NM_139343.3(BIN1):c.430G>A (p.Gly144Arg) rs1685516968
NM_139343.3(BIN1):c.430_432del (p.Gly144del) rs1685516331
NM_139343.3(BIN1):c.432G>A (p.Gly144=) rs758913903
NM_139343.3(BIN1):c.432G>T (p.Gly144=)
NM_139343.3(BIN1):c.433C>T (p.Arg145Cys) rs1249621033
NM_139343.3(BIN1):c.444G>T (p.Val148=)
NM_139343.3(BIN1):c.451G>A (p.Asp151Asn) rs121909274
NM_139343.3(BIN1):c.460C>T (p.Arg154Trp) rs761914168
NM_139343.3(BIN1):c.461G>A (p.Arg154Gln) rs267606681
NM_139343.3(BIN1):c.469T>C (p.Tyr157His) rs1553466026
NM_139343.3(BIN1):c.469_471del (p.Tyr157del)
NM_139343.3(BIN1):c.478C>T (p.Leu160Phe) rs1685511003
NM_139343.3(BIN1):c.493AAG[1] (p.Lys166del) rs775374523
NM_139343.3(BIN1):c.504A>G (p.Glu168=)
NM_139343.3(BIN1):c.506C>A (p.Ala169Asp)
NM_139343.3(BIN1):c.516C>G (p.Ala172=)
NM_139343.3(BIN1):c.519+11G>C
NM_139343.3(BIN1):c.519+15C>T
NM_139343.3(BIN1):c.519+16G>C
NM_139343.3(BIN1):c.519+6G>T
NM_139343.3(BIN1):c.51C>G (p.Asn17Lys) rs2105378914
NM_139343.3(BIN1):c.520-13C>T
NM_139343.3(BIN1):c.520-4C>T
NM_139343.3(BIN1):c.520-8C>T rs769133774
NM_139343.3(BIN1):c.520-9C>G rs1685399315
NM_139343.3(BIN1):c.528G>T (p.Ser176=)
NM_139343.3(BIN1):c.552G>C (p.Gln184His)
NM_139343.3(BIN1):c.55C>G (p.Gln19Glu) rs2105378861
NM_139343.3(BIN1):c.574G>T (p.Ala192Ser)
NM_139343.3(BIN1):c.596A>T (p.Asn199Ile) rs2105049284
NM_139343.3(BIN1):c.5C>T (p.Ala2Val)
NM_139343.3(BIN1):c.603C>T (p.Leu201=)
NM_139343.3(BIN1):c.612+14C>T
NM_139343.3(BIN1):c.612+18C>A rs572040801
NM_139343.3(BIN1):c.612+18C>T
NM_139343.3(BIN1):c.612+19C>G
NM_139343.3(BIN1):c.613-15C>T
NM_139343.3(BIN1):c.613-3C>A
NM_139343.3(BIN1):c.613-7C>T
NM_139343.3(BIN1):c.615C>G (p.Ala205=) rs748308882
NM_139343.3(BIN1):c.618G>A (p.Glu206=)
NM_139343.3(BIN1):c.61A>C (p.Lys21Gln)
NM_139343.3(BIN1):c.630C>T (p.Ile210=) rs886038728
NM_139343.3(BIN1):c.660T>C (p.Asn220=) rs1573611005
NM_139343.3(BIN1):c.662T>A (p.Val221Glu)
NM_139343.3(BIN1):c.666T>G (p.Asp222Glu) rs376323215
NM_139343.3(BIN1):c.669G>A (p.Leu223=) rs1573610955
NM_139343.3(BIN1):c.679C>G (p.Leu227Val) rs886054835
NM_139343.3(BIN1):c.698+10_698+12delinsGTT
NM_139343.3(BIN1):c.698+19C>T rs2105007728
NM_139343.3(BIN1):c.698+3G>A
NM_139343.3(BIN1):c.698+7C>T rs2105007972
NM_139343.3(BIN1):c.698+9_698+10inv
NM_139343.3(BIN1):c.699-12G>A
NM_139343.3(BIN1):c.701G>A (p.Arg234His)
NM_139343.3(BIN1):c.703G>A (p.Val235Ile)
NM_139343.3(BIN1):c.70C>G (p.Arg24Gly) rs2105378684
NM_139343.3(BIN1):c.70C>T (p.Arg24Cys)
NM_139343.3(BIN1):c.715G>C (p.Val239Leu)
NM_139343.3(BIN1):c.723G>A (p.Thr241=) rs370016618
NM_139343.3(BIN1):c.727C>G (p.Gln243Glu)
NM_139343.3(BIN1):c.72C>T (p.Arg24=) rs1681233008
NM_139343.3(BIN1):c.737C>T (p.Ala246Val)
NM_139343.3(BIN1):c.740G>A (p.Gly247Asp) rs1684781364
NM_139343.3(BIN1):c.741C>G (p.Gly247=) rs766037529
NM_139343.3(BIN1):c.758A>G (p.His253Arg)
NM_139343.3(BIN1):c.759C>T (p.His253=)
NM_139343.3(BIN1):c.769A>G (p.Ser257Gly)
NM_139343.3(BIN1):c.770G>A (p.Ser257Asn) rs761203710
NM_139343.3(BIN1):c.774+16C>T rs1482374716
NM_139343.3(BIN1):c.774+18C>T
NM_139343.3(BIN1):c.774+9T>C
NM_139343.3(BIN1):c.775-13G>T rs778119265
NM_139343.3(BIN1):c.775-19C>T
NM_139343.3(BIN1):c.775-6C>G rs753202898
NM_139343.3(BIN1):c.775-7C>G rs1684594015
NM_139343.3(BIN1):c.775-8T>C
NM_139343.3(BIN1):c.779A>T (p.Asn260Ile)
NM_139343.3(BIN1):c.785A>G (p.Asn262Ser)
NM_139343.3(BIN1):c.789C>T (p.Leu263=)
NM_139343.3(BIN1):c.808C>T (p.Leu270=)
NM_139343.3(BIN1):c.821A>G (p.His274Arg)
NM_139343.3(BIN1):c.823G>T (p.Gly275Trp) rs771506242
NM_139343.3(BIN1):c.84+10C>A
NM_139343.3(BIN1):c.84+10C>T
NM_139343.3(BIN1):c.84+11C>T
NM_139343.3(BIN1):c.84+13G>A
NM_139343.3(BIN1):c.84+14A>T rs2105378351
NM_139343.3(BIN1):c.84+16C>A
NM_139343.3(BIN1):c.84+16C>G
NM_139343.3(BIN1):c.84+17C>T
NM_139343.3(BIN1):c.84+19dup rs751236360
NM_139343.3(BIN1):c.84+4286_84+4287delinsAT
NM_139343.3(BIN1):c.84+6C>A
NM_139343.3(BIN1):c.84+9G>A rs762680903
NM_139343.3(BIN1):c.840G>A (p.Thr280=)
NM_139343.3(BIN1):c.847G>A (p.Ala283Thr)
NM_139343.3(BIN1):c.84G>C (p.Lys28Asn) rs1681229622
NM_139343.3(BIN1):c.85-18C>G rs953081488
NM_139343.3(BIN1):c.85-3C>T
NM_139343.3(BIN1):c.857+11G>T
NM_139343.3(BIN1):c.857+12G>A
NM_139343.3(BIN1):c.857+16G>T
NM_139343.3(BIN1):c.857+18C>T rs1244052584
NM_139343.3(BIN1):c.857+4C>G
NM_139343.3(BIN1):c.857+5G>A
NM_139343.3(BIN1):c.857+8C>T
NM_139343.3(BIN1):c.858-10T>C
NM_139343.3(BIN1):c.863A>G (p.Asn288Ser) rs2104954121
NM_139343.3(BIN1):c.865G>A (p.Ala289Thr)
NM_139343.3(BIN1):c.901G>T (p.Asp301Tyr) rs1462533329
NM_139343.3(BIN1):c.902A>G (p.Asp301Gly) rs1259572705
NM_139343.3(BIN1):c.908C>T (p.Ser303Phe)
NM_139343.3(BIN1):c.913G>C (p.Ala305Pro)
NM_139343.3(BIN1):c.916G>A (p.Ala306Thr)
NM_139343.3(BIN1):c.920C>T (p.Thr307Ile) rs199551366
NM_139343.3(BIN1):c.929T>A (p.Ile310Asn)
NM_139343.3(BIN1):c.935T>G (p.Val312Gly)
NM_139343.3(BIN1):c.939C>T (p.Asn313=)
NM_139343.3(BIN1):c.943G>A (p.Glu315Lys) rs769801396
NM_139343.3(BIN1):c.943G>C (p.Glu315Gln) rs769801396
NM_139343.3(BIN1):c.953C>T (p.Pro318Leu)
NM_139343.3(BIN1):c.954G>A (p.Pro318=)
NM_139343.3(BIN1):c.957C>A (p.Ala319=) rs2276579
NM_139343.3(BIN1):c.957C>G (p.Ala319=) rs2276579
NM_139343.3(BIN1):c.958G>A (p.Gly320Ser)
NM_139343.3(BIN1):c.965C>T (p.Ala322Val) rs1684085224
NM_139343.3(BIN1):c.969_980del (p.Pro324_Thr327del)
NM_139343.3(BIN1):c.969_980dup (p.Thr327_Leu328insProGlyAlaThr)
NM_139343.3(BIN1):c.974G>C (p.Gly325Ala)
NM_139343.3(BIN1):c.992C>G (p.Ser331Cys)
NM_139343.3(BIN1):c.9G>C (p.Glu3Asp) rs558639756
NM_152263.4(TPM3):c.401G>A (p.Arg134Gln) rs769493959

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