NM_007078.3(LDB3):c.690-4A>G
|
rs45529531
|
0.00427
|
NM_001368067.1(LDB3):c.546T>C (p.Ser182=)
|
rs71473272
|
0.00316
|
NM_007078.3(LDB3):c.-23-32C>A
|
rs34972863
|
0.00282
|
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser)
|
rs72648247
|
0.00184
|
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp)
|
rs116840776
|
0.00164
|
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe)
|
rs111671438
|
0.00153
|
NM_001267550.2(TTN):c.66702C>T (p.Ala22234=)
|
rs371802557
|
0.00134
|
NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys)
|
rs72648958
|
0.00116
|
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp)
|
rs201043950
|
0.00110
|
NM_007078.3(LDB3):c.897-6834C>T
|
rs185972751
|
0.00101
|
NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp)
|
rs140319117
|
0.00095
|
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr)
|
rs72677243
|
0.00094
|
NM_001145809.2(MYH14):c.2432C>T (p.Ala811Val)
|
rs201337011
|
0.00093
|
NM_001458.5(FLNC):c.4553A>G (p.Lys1518Arg)
|
rs201635205
|
0.00061
|
NM_001267550.2(TTN):c.29042-2A>C
|
rs6716782
|
0.00060
|
NM_001267550.2(TTN):c.68824G>A (p.Glu22942Lys)
|
rs199506676
|
0.00059
|
NM_018834.6(MATR3):c.*1757T>C
|
rs191196444
|
0.00057
|
NM_033337.3(CAV3):c.*834A>T
|
rs771619043
|
0.00054
|
NM_199189.2(MATR3):c.-649C>T
|
rs779721416
|
0.00053
|
NM_033337.3(CAV3):c.*741G>A
|
rs560215660
|
0.00050
|
NM_007078.3(LDB3):c.566C>T (p.Ser189Leu)
|
rs45487699
|
0.00049
|
NM_007078.3(LDB3):c.1312A>G (p.Thr438Ala)
|
rs111941389
|
0.00048
|
NM_001267550.2(TTN):c.11788G>A (p.Glu3930Lys)
|
rs186624523
|
0.00046
|
NM_001267550.2(TTN):c.37408G>T (p.Val12470Leu)
|
rs398124448
|
0.00046
|
NM_001267550.2(TTN):c.66391A>G (p.Thr22131Ala)
|
rs140842479
|
0.00046
|
NM_001267550.2(TTN):c.100400T>G (p.Val33467Gly)
|
rs200166942
|
0.00045
|
NM_001267550.2(TTN):c.51065C>T (p.Ala17022Val)
|
rs372419267
|
0.00045
|
NM_006790.3(MYOT):c.*311A>T
|
rs966703412
|
0.00044
|
NM_001267550.2(TTN):c.37876C>A (p.Pro12626Thr)
|
rs762460746
|
0.00042
|
NM_001267550.2(TTN):c.39044-9T>A
|
rs184888200
|
0.00042
|
NM_001267550.2(TTN):c.49413G>T (p.Trp16471Cys)
|
rs202094100
|
0.00042
|
NM_001267550.2(TTN):c.57442A>G (p.Met19148Val)
|
rs188185141
|
0.00042
|
NM_133379.5(TTN):c.14806A>T (p.Thr4936Ser)
|
rs72648909
|
0.00042
|
NM_001267550.2(TTN):c.7523A>G (p.His2508Arg)
|
rs146970027
|
0.00041
|
NM_001267550.2(TTN):c.34294C>T (p.Pro11432Ser)
|
rs534339525
|
0.00040
|
NM_001267550.2(TTN):c.36196G>A (p.Asp12066Asn)
|
rs140655598
|
0.00039
|
NM_001145809.2(MYH14):c.3850C>T (p.Arg1284Trp)
|
rs201515738
|
0.00037
|
NM_133379.5(TTN):c.11649T>G (p.Phe3883Leu)
|
rs148581002
|
0.00037
|
NM_001267550.2(TTN):c.*623G>A
|
rs778009328
|
0.00036
|
NM_006790.3(MYOT):c.*372G>A
|
rs1029781405
|
0.00036
|
NM_007078.3(LDB3):c.664G>A (p.Ala222Thr)
|
rs139922045
|
0.00036
|
NM_001267550.2(TTN):c.35921T>C (p.Met11974Thr)
|
rs535815566
|
0.00035
|
NM_001267550.2(TTN):c.36461C>G (p.Pro12154Arg)
|
rs371580084
|
0.00034
|
NM_006790.3(MYOT):c.120T>A (p.Ile40=)
|
rs139254363
|
0.00034
|
NM_018834.6(MATR3):c.1991A>C (p.Glu664Ala)
|
rs139589527
|
0.00034
|
NM_001267550.2(TTN):c.53159T>C (p.Ile17720Thr)
|
rs201358641
|
0.00031
|
NM_133379.5(TTN):c.14240A>T (p.Asp4747Val)
|
rs149586047
|
0.00031
|
NM_001267550.2(TTN):c.*968T>C
|
rs772669140
|
0.00029
|
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp)
|
rs138060032
|
0.00029
|
NM_133379.5(TTN):c.13364A>G (p.Lys4455Arg)
|
rs142304137
|
0.00029
|
NM_001267550.2(TTN):c.17543G>A (p.Gly5848Glu)
|
rs185962498
|
0.00028
|
NM_001267550.2(TTN):c.66430G>A (p.Ala22144Thr)
|
rs183276016
|
0.00027
|
NM_007078.3(LDB3):c.2092G>A (p.Ala698Thr)
|
rs45577134
|
0.00026
|
NM_001458.5(FLNC):c.1757T>C (p.Val586Ala)
|
rs374132023
|
0.00025
|
NM_001267550.2(TTN):c.*141T>G
|
rs781617834
|
0.00024
|
NM_001458.5(FLNC):c.5221G>A (p.Glu1741Lys)
|
rs200792813
|
0.00024
|
NM_007078.3(LDB3):c.1606G>A (p.Val536Ile)
|
rs113817827
|
0.00024
|
NM_001267550.2(TTN):c.17129G>A (p.Arg5710Gln)
|
rs200018866
|
0.00022
|
NM_001267550.2(TTN):c.32026A>G (p.Lys10676Glu)
|
rs200952728
|
0.00022
|
NM_001267550.2(TTN):c.33911-6_33911-5insG
|
rs765503214
|
0.00022
|
NM_001267550.2(TTN):c.87448A>T (p.Ile29150Leu)
|
rs189030321
|
0.00022
|
NM_007078.3(LDB3):c.1049C>T (p.Thr350Ile)
|
rs200796750
|
0.00022
|
NM_033337.3(CAV3):c.*852G>A
|
rs555268992
|
0.00022
|
NM_001267550.2(TTN):c.31645A>G (p.Ile10549Val)
|
rs376613199
|
0.00021
|
NM_001267550.2(TTN):c.55852T>C (p.Cys18618Arg)
|
rs369260968
|
0.00021
|
NM_001267550.2(TTN):c.71723G>A (p.Gly23908Asp)
|
rs540161344
|
0.00021
|
NM_001458.5(FLNC):c.2635C>T (p.Arg879Cys)
|
rs374983276
|
0.00021
|
NM_001267550.2(TTN):c.30389G>A (p.Arg10130His)
|
rs373355159
|
0.00020
|
NM_001267550.2(TTN):c.32767A>C (p.Lys10923Gln)
|
rs367720439
|
0.00020
|
NM_001267550.2(TTN):c.37193C>T (p.Pro12398Leu)
|
rs570730533
|
0.00020
|
NM_001267550.2(TTN):c.48460+5G>A
|
rs374413644
|
0.00020
|
NM_001267550.2(TTN):c.80555G>A (p.Arg26852His)
|
rs202149931
|
0.00020
|
NM_001267550.2(TTN):c.100447G>C (p.Glu33483Gln)
|
rs368321767
|
0.00019
|
NM_001267550.2(TTN):c.101281C>T (p.Arg33761Trp)
|
rs201421156
|
0.00019
|
NM_001267550.2(TTN):c.78914C>G (p.Ser26305Cys)
|
rs199646089
|
0.00019
|
NM_001267550.2(TTN):c.89314G>A (p.Glu29772Lys)
|
rs200503016
|
0.00019
|
NM_001267550.2(TTN):c.95450T>C (p.Val31817Ala)
|
rs758207460
|
0.00019
|
NM_001458.5(FLNC):c.2296C>T (p.Arg766Trp)
|
rs200215340
|
0.00019
|
NM_001458.5(FLNC):c.3938G>A (p.Arg1313Gln)
|
rs199804244
|
0.00019
|
NM_006790.3(MYOT):c.323A>C (p.Asn108Thr)
|
rs142416150
|
0.00019
|
NM_001267550.2(TTN):c.100432T>G (p.Trp33478Gly)
|
rs372304158
|
0.00018
|
NM_001267550.2(TTN):c.36847A>C (p.Lys12283Gln)
|
rs1479390801
|
0.00018
|
NM_001267550.2(TTN):c.58397G>C (p.Gly19466Ala)
|
rs201922910
|
0.00018
|
NM_001267550.2(TTN):c.83618T>C (p.Val27873Ala)
|
rs200775919
|
0.00018
|
NM_001267550.2(TTN):c.96928A>C (p.Thr32310Pro)
|
rs542208825
|
0.00018
|
NM_001458.5(FLNC):c.7108G>A (p.Gly2370Ser)
|
rs201917318
|
0.00018
|
NM_007078.3(LDB3):c.1910C>T (p.Ala637Val)
|
rs141569007
|
0.00018
|
NM_007078.3(LDB3):c.897-6700G>A
|
rs560431536
|
0.00018
|
NM_001267550.2(TTN):c.38506G>A (p.Val12836Met)
|
rs779238709
|
0.00017
|
NM_001267550.2(TTN):c.40543G>A (p.Val13515Ile)
|
rs727504200
|
0.00017
|
NM_001267550.2(TTN):c.54148C>T (p.Arg18050Cys)
|
rs55734111
|
0.00017
|
NM_001267550.2(TTN):c.58727G>A (p.Arg19576His)
|
rs771668359
|
0.00017
|
NM_001267550.2(TTN):c.61556G>A (p.Arg20519Gln)
|
rs727504191
|
0.00017
|
NM_001267550.2(TTN):c.687T>C (p.Phe229=)
|
rs376527094
|
0.00017
|
NM_001267550.2(TTN):c.76402G>T (p.Val25468Leu)
|
rs200308639
|
0.00017
|
NM_006790.3(MYOT):c.1364G>A (p.Arg455Gln)
|
rs141801816
|
0.00017
|
NM_018834.6(MATR3):c.1132G>A (p.Ala378Thr)
|
rs201075828
|
0.00017
|
NM_133379.5(TTN):c.13586C>G (p.Ala4529Gly)
|
rs138927584
|
0.00017
|
NM_001267550.2(TTN):c.102121G>A (p.Glu34041Lys)
|
rs377600383
|
0.00016
|
NM_001267550.2(TTN):c.102877A>G (p.Lys34293Glu)
|
rs72629783
|
0.00016
|
NM_001267550.2(TTN):c.36644C>T (p.Pro12215Leu)
|
rs367720476
|
0.00016
|
NM_001267550.2(TTN):c.53881+5G>A
|
rs753527304
|
0.00016
|
NM_001267550.2(TTN):c.81673G>A (p.Val27225Ile)
|
rs375211424
|
0.00016
|
NM_001458.5(FLNC):c.1081C>T (p.Arg361Cys)
|
rs200206944
|
0.00016
|
NM_001458.5(FLNC):c.1166G>A (p.Gly389Asp)
|
rs763039506
|
0.00016
|
NM_007078.3(LDB3):c.-24+41G>A
|
rs45578532
|
0.00016
|
NM_007078.3(LDB3):c.690-4621A>G
|
rs370053163
|
0.00016
|
NM_007078.3(LDB3):c.769G>C (p.Glu257Gln)
|
rs143996848
|
0.00016
|
NM_033337.3(CAV3):c.*134G>A
|
rs949111902
|
0.00016
|
NM_133379.5(TTN):c.15122C>G (p.Thr5041Arg)
|
rs148791107
|
0.00016
|
NM_001267550.2(TTN):c.25877A>G (p.Asn8626Ser)
|
rs200355367
|
0.00015
|
NM_001267550.2(TTN):c.36391C>T (p.Arg12131Cys)
|
rs368607833
|
0.00015
|
NM_001267550.2(TTN):c.37873G>A (p.Val12625Met)
|
rs1336768417
|
0.00015
|
NM_001267550.2(TTN):c.56255C>T (p.Pro18752Leu)
|
rs200132226
|
0.00015
|
NM_001267550.2(TTN):c.92699A>G (p.Asn30900Ser)
|
rs186234393
|
0.00015
|
NM_001267550.2(TTN):c.98960C>T (p.Ser32987Phe)
|
rs746380940
|
0.00015
|
NM_001368067.1(LDB3):c.511G>A (p.Ala171Thr)
|
rs373632943
|
0.00015
|
NM_001458.5(FLNC):c.5296T>C (p.Trp1766Arg)
|
rs751650734
|
0.00015
|
NM_006790.3(MYOT):c.1413G>T (p.Leu471Phe)
|
rs146426896
|
0.00015
|
NM_007078.3(LDB3):c.826C>T (p.Arg276Cys)
|
rs397517226
|
0.00015
|
NM_018834.6(MATR3):c.2234C>T (p.Ala745Val)
|
rs199797401
|
0.00015
|
NM_018834.6(MATR3):c.2504A>G (p.Asn835Ser)
|
rs201165929
|
0.00015
|
NM_001267550.2(TTN):c.25564G>A (p.Asp8522Asn)
|
rs199619070
|
0.00014
|
NM_001267550.2(TTN):c.32971G>A (p.Glu10991Lys)
|
rs201081803
|
0.00014
|
NM_001267550.2(TTN):c.35924C>A (p.Ala11975Asp)
|
rs182102510
|
0.00014
|
NM_001267550.2(TTN):c.57656A>T (p.Tyr19219Phe)
|
rs201541213
|
0.00014
|
NM_001267550.2(TTN):c.80666A>G (p.Tyr26889Cys)
|
rs571328201
|
0.00014
|
NM_001267550.2(TTN):c.91119A>G (p.Lys30373=)
|
rs192167542
|
0.00014
|
NM_001267550.2(TTN):c.9707C>T (p.Pro3236Leu)
|
rs146199720
|
0.00014
|
NM_001267550.2(TTN):c.9795A>C (p.Arg3265Ser)
|
rs141708467
|
0.00014
|
NM_001458.5(FLNC):c.1259G>A (p.Arg420Gln)
|
rs371410741
|
0.00014
|
NM_001458.5(FLNC):c.4367G>C (p.Gly1456Ala)
|
rs775049569
|
0.00014
|
NM_001458.5(FLNC):c.5020G>A (p.Gly1674Ser)
|
rs374124083
|
0.00014
|
NM_001458.5(FLNC):c.5298+6G>A
|
rs373553314
|
0.00014
|
NM_001458.5(FLNC):c.5432G>A (p.Arg1811Gln)
|
rs369759751
|
0.00014
|
NM_022173.4(TIA1):c.475-3C>T
|
rs200499196
|
0.00014
|
NM_022173.4(TIA1):c.880G>A (p.Val294Met)
|
rs144296151
|
0.00014
|
NM_001267550.2(TTN):c.100417G>A (p.Gly33473Ser)
|
rs397517783
|
0.00013
|
NM_001267550.2(TTN):c.10115-4G>A
|
rs367648529
|
0.00013
|
NM_001267550.2(TTN):c.106837T>G (p.Ser35613Ala)
|
rs374405802
|
0.00013
|
NM_001267550.2(TTN):c.1742C>T (p.Pro581Leu)
|
rs199778910
|
0.00013
|
NM_001267550.2(TTN):c.23353T>C (p.Cys7785Arg)
|
rs371090975
|
0.00013
|
NM_001267550.2(TTN):c.23675T>C (p.Ile7892Thr)
|
rs201181445
|
0.00013
|
NM_001267550.2(TTN):c.27715T>C (p.Tyr9239His)
|
rs373068293
|
0.00013
|
NM_001267550.2(TTN):c.36803C>G (p.Pro12268Arg)
|
rs997014833
|
0.00013
|
NM_001267550.2(TTN):c.62681G>T (p.Cys20894Phe)
|
rs370080086
|
0.00013
|
NM_001267550.2(TTN):c.6899A>G (p.Tyr2300Cys)
|
rs772093035
|
0.00013
|
NM_001267550.2(TTN):c.75527G>A (p.Arg25176His)
|
rs375693396
|
0.00013
|
NM_001267550.2(TTN):c.89066G>A (p.Arg29689His)
|
rs368634670
|
0.00013
|
NM_001267550.2(TTN):c.89708C>G (p.Thr29903Ser)
|
rs72648240
|
0.00013
|
NM_001267550.2(TTN):c.92170G>C (p.Gly30724Arg)
|
rs370928582
|
0.00013
|
NM_001267550.2(TTN):c.95245G>A (p.Glu31749Lys)
|
rs139542862
|
0.00013
|
NM_001458.5(FLNC):c.2297G>A (p.Arg766Gln)
|
rs369935650
|
0.00013
|
NM_001458.5(FLNC):c.4480C>T (p.Arg1494Trp)
|
rs779079128
|
0.00013
|
NM_007078.3(LDB3):c.1253C>G (p.Pro418Arg)
|
rs141870580
|
0.00013
|
NM_022173.4(TIA1):c.1078G>A (p.Val360Met)
|
rs201905164
|
0.00013
|
NM_133379.5(TTN):c.10844G>A (p.Arg3615Gln)
|
rs747054427
|
0.00013
|
NM_133379.5(TTN):c.15314G>A (p.Arg5105Gln)
|
rs146359866
|
0.00013
|
NM_133379.5(TTN):c.15768T>A (p.His5256Gln)
|
rs138826545
|
0.00013
|
NM_001267550.2(TTN):c.23926G>A (p.Val7976Ile)
|
rs200395305
|
0.00012
|
NM_001267550.2(TTN):c.71911T>C (p.Trp23971Arg)
|
rs373717147
|
0.00012
|
NM_006790.3(MYOT):c.1286C>G (p.Ala429Gly)
|
rs144731446
|
0.00012
|
NM_001145809.2(MYH14):c.3304C>T (p.Arg1102Trp)
|
rs397516629
|
0.00011
|
NM_001267550.2(TTN):c.12412A>G (p.Ile4138Val)
|
rs377290301
|
0.00011
|
NM_001267550.2(TTN):c.22090C>T (p.Arg7364Trp)
|
rs397517500
|
0.00011
|
NM_001267550.2(TTN):c.30598G>C (p.Glu10200Gln)
|
rs779015756
|
0.00011
|
NM_001267550.2(TTN):c.34379-15A>G
|
rs764544769
|
0.00011
|
NM_001267550.2(TTN):c.56693G>A (p.Arg18898His)
|
rs572453785
|
0.00011
|
NM_001267550.2(TTN):c.59489A>G (p.Lys19830Arg)
|
rs764259290
|
0.00011
|
NM_001267550.2(TTN):c.7618C>T (p.Arg2540Cys)
|
rs368574470
|
0.00011
|
NM_001267550.2(TTN):c.95083G>A (p.Gly31695Arg)
|
rs376403373
|
0.00011
|
NM_001267550.2(TTN):c.97433A>C (p.Asn32478Thr)
|
rs876658096
|
0.00011
|
NM_001458.5(FLNC):c.3853G>A (p.Gly1285Ser)
|
rs200928780
|
0.00011
|
NM_006790.3(MYOT):c.533G>A (p.Arg178His)
|
rs150293853
|
0.00011
|
NM_007078.3(LDB3):c.404C>A (p.Thr135Asn)
|
rs1004651681
|
0.00011
|
NM_033337.3(CAV3):c.125A>C (p.Glu42Ala)
|
rs137901165
|
0.00011
|
NM_133379.5(TTN):c.13412G>C (p.Gly4471Ala)
|
rs145919543
|
0.00011
|
NM_001145809.2(MYH14):c.1049G>A (p.Arg350Gln)
|
rs373908919
|
0.00010
|
NM_001145809.2(MYH14):c.3821G>A (p.Arg1274Gln)
|
rs763472009
|
0.00010
|
NM_001267550.2(TTN):c.14309A>G (p.Tyr4770Cys)
|
rs371552518
|
0.00010
|
NM_001267550.2(TTN):c.19996C>T (p.Pro6666Ser)
|
rs571231816
|
0.00010
|
NM_001267550.2(TTN):c.266C>G (p.Ala89Gly)
|
rs200165636
|
0.00010
|
NM_001267550.2(TTN):c.3469G>A (p.Val1157Ile)
|
rs397517566
|
0.00010
|
NM_001267550.2(TTN):c.4228G>C (p.Val1410Leu)
|
rs576593161
|
0.00010
|
NM_001267550.2(TTN):c.50297G>A (p.Arg16766Gln)
|
rs747224934
|
0.00010
|
NM_001267550.2(TTN):c.5577G>T (p.Arg1859Ser)
|
rs551538420
|
0.00010
|
NM_001267550.2(TTN):c.59729C>T (p.Thr19910Ile)
|
rs369476725
|
0.00010
|
NM_001267550.2(TTN):c.63116A>C (p.Lys21039Thr)
|
rs886038878
|
0.00010
|
NM_001267550.2(TTN):c.65672C>T (p.Pro21891Leu)
|
rs397517662
|
0.00010
|
NM_001267550.2(TTN):c.67808C>T (p.Ala22603Val)
|
rs199583938
|
0.00010
|
NM_001267550.2(TTN):c.8185G>A (p.Glu2729Lys)
|
rs763702243
|
0.00010
|
NM_001267550.2(TTN):c.82061T>G (p.Val27354Gly)
|
rs368023868
|
0.00010
|
NM_001267550.2(TTN):c.89018G>A (p.Arg29673Gln)
|
rs200639218
|
0.00010
|
NM_001458.5(FLNC):c.7289C>T (p.Ala2430Val)
|
rs200516164
|
0.00010
|
NM_001267550.2(TTN):c.105037C>T (p.Arg35013Cys)
|
rs568460311
|
0.00009
|
NM_001267550.2(TTN):c.16060G>C (p.Asp5354His)
|
rs745578038
|
0.00009
|
NM_001267550.2(TTN):c.16825G>A (p.Glu5609Lys)
|
rs374682077
|
0.00009
|
NM_001267550.2(TTN):c.17437T>A (p.Cys5813Ser)
|
rs368692616
|
0.00009
|
NM_001267550.2(TTN):c.25557C>T (p.Gly8519=)
|
rs372320172
|
0.00009
|
NM_001267550.2(TTN):c.30355G>C (p.Glu10119Gln)
|
rs778565859
|
0.00009
|
NM_001267550.2(TTN):c.31208-13G>A
|
rs377135196
|
0.00009
|
NM_001267550.2(TTN):c.31391G>A (p.Arg10464Gln)
|
rs727504757
|
0.00009
|
NM_001267550.2(TTN):c.34778C>T (p.Pro11593Leu)
|
rs199975096
|
0.00009
|
NM_001267550.2(TTN):c.47133A>G (p.Ala15711=)
|
rs573218266
|
0.00009
|
NM_001267550.2(TTN):c.47705G>A (p.Gly15902Glu)
|
rs561284948
|
0.00009
|
NM_001267550.2(TTN):c.49070C>T (p.Ala16357Val)
|
rs199768159
|
0.00009
|
NM_001267550.2(TTN):c.49363A>G (p.Thr16455Ala)
|
rs374543277
|
0.00009
|
NM_001267550.2(TTN):c.50774T>C (p.Val16925Ala)
|
rs370067597
|
0.00009
|
NM_001267550.2(TTN):c.51642G>C (p.Glu17214Asp)
|
rs372443762
|
0.00009
|
NM_001267550.2(TTN):c.5314A>G (p.Ser1772Gly)
|
rs150725992
|
0.00009
|
NM_001267550.2(TTN):c.53903G>A (p.Arg17968His)
|
rs200100660
|
0.00009
|
NM_001267550.2(TTN):c.65574T>C (p.Asn21858=)
|
rs374858668
|
0.00009
|
NM_001267550.2(TTN):c.71104G>T (p.Gly23702Trp)
|
rs750853901
|
0.00009
|
NM_001267550.2(TTN):c.92831G>A (p.Arg30944His)
|
rs755972883
|
0.00009
|
NM_001267550.2(TTN):c.94827C>T (p.Tyr31609=)
|
rs771635198
|
0.00009
|
NM_001267550.2(TTN):c.96989T>C (p.Ile32330Thr)
|
rs201023432
|
0.00009
|
NM_001267550.2(TTN):c.97247C>T (p.Ser32416Leu)
|
rs377412567
|
0.00009
|
NM_001368067.1(LDB3):c.433G>A (p.Gly145Ser)
|
rs376489385
|
0.00009
|
NM_001458.5(FLNC):c.1168A>C (p.Asn390His)
|
rs922960289
|
0.00009
|
NM_001458.5(FLNC):c.1205C>T (p.Thr402Ile)
|
rs374757755
|
0.00009
|
NM_001458.5(FLNC):c.1605C>T (p.Cys535=)
|
rs199976790
|
0.00009
|
NM_001458.5(FLNC):c.1645A>G (p.Ile549Val)
|
rs547997371
|
0.00009
|
NM_001458.5(FLNC):c.5128G>A (p.Glu1710Lys)
|
rs200077114
|
0.00009
|
NM_001458.5(FLNC):c.5410A>T (p.Met1804Leu)
|
rs201949844
|
0.00009
|
NM_001458.5(FLNC):c.643G>A (p.Val215Met)
|
rs754309921
|
0.00009
|
NM_001458.5(FLNC):c.7450G>A (p.Gly2484Ser)
|
rs778922568
|
0.00009
|
NM_006790.3(MYOT):c.1345C>G (p.Pro449Ala)
|
rs766650528
|
0.00009
|
NM_007078.3(LDB3):c.1071T>A (p.Pro357=)
|
rs143823978
|
0.00009
|
NM_007078.3(LDB3):c.1487T>C (p.Phe496Ser)
|
rs147072071
|
0.00009
|
NM_007078.3(LDB3):c.1823C>T (p.Pro608Leu)
|
rs145983824
|
0.00009
|
NM_018834.6(MATR3):c.*857C>T
|
rs745417770
|
0.00009
|
NM_018834.6(MATR3):c.2264A>G (p.Asn755Ser)
|
rs144637575
|
0.00009
|
NM_022173.4(TIA1):c.154G>A (p.Glu52Lys)
|
rs183810707
|
0.00009
|
NM_022173.4(TIA1):c.170G>A (p.Arg57His)
|
rs778629190
|
0.00009
|
NM_133379.5(TTN):c.11699T>C (p.Ile3900Thr)
|
rs144799515
|
0.00009
|
NM_199189.3(MATR3):c.-339+2T>A
|
rs539017488
|
0.00009
|
NM_199189.3(MATR3):c.-422C>T
|
rs751398373
|
0.00009
|
NM_001267550.2(TTN):c.105416C>T (p.Thr35139Ile)
|
rs200782068
|
0.00008
|
NM_001267550.2(TTN):c.107105C>T (p.Pro35702Leu)
|
rs772957495
|
0.00008
|
NM_001267550.2(TTN):c.16156A>G (p.Met5386Val)
|
rs567457007
|
0.00008
|
NM_001267550.2(TTN):c.1743G>A (p.Pro581=)
|
rs138560523
|
0.00008
|
NM_001267550.2(TTN):c.26221A>G (p.Lys8741Glu)
|
rs538959125
|
0.00008
|
NM_001267550.2(TTN):c.33650C>T (p.Ala11217Val)
|
rs750612476
|
0.00008
|
NM_001267550.2(TTN):c.47836T>C (p.Ser15946Pro)
|
rs369663023
|
0.00008
|
NM_001267550.2(TTN):c.48556C>T (p.Arg16186Cys)
|
rs377563403
|
0.00008
|
NM_001267550.2(TTN):c.49000G>A (p.Val16334Met)
|
rs541384076
|
0.00008
|
NM_001267550.2(TTN):c.51247G>T (p.Val17083Phe)
|
rs746817480
|
0.00008
|
NM_001267550.2(TTN):c.57559G>A (p.Val19187Ile)
|
rs764203267
|
0.00008
|
NM_001267550.2(TTN):c.65416C>T (p.Arg21806Trp)
|
rs778703530
|
0.00008
|
NM_001267550.2(TTN):c.6959G>A (p.Arg2320His)
|
rs374615369
|
0.00008
|
NM_001267550.2(TTN):c.71944A>G (p.Asn23982Asp)
|
rs199755820
|
0.00008
|
NM_001267550.2(TTN):c.79519G>A (p.Ala26507Thr)
|
rs554718474
|
0.00008
|
NM_001267550.2(TTN):c.85334G>A (p.Cys28445Tyr)
|
rs773226749
|
0.00008
|
NM_001267550.2(TTN):c.92167C>T (p.Pro30723Ser)
|
rs758537709
|
0.00008
|
NM_001458.5(FLNC):c.2602A>G (p.Ser868Gly)
|
rs201002262
|
0.00008
|
NM_001458.5(FLNC):c.5216C>T (p.Pro1739Leu)
|
rs745650222
|
0.00008
|
NM_001458.5(FLNC):c.6817G>A (p.Ala2273Thr)
|
rs372251350
|
0.00008
|
NM_007078.3(LDB3):c.1411C>T (p.Pro471Ser)
|
rs750941511
|
0.00008
|
NM_007078.3(LDB3):c.1675C>T (p.Arg559Trp)
|
rs142947567
|
0.00008
|
NM_007078.3(LDB3):c.1676G>A (p.Arg559Gln)
|
rs763908636
|
0.00008
|
NM_007078.3(LDB3):c.581A>T (p.Gln194Leu)
|
rs769852198
|
0.00008
|
NM_007078.3(LDB3):c.715G>A (p.Val239Ile)
|
rs201417512
|
0.00008
|
NM_007078.3(LDB3):c.887G>A (p.Arg296Gln)
|
rs201689564
|
0.00008
|
NM_001267550.2(TTN):c.105383C>T (p.Ala35128Val)
|
rs758458467
|
0.00007
|
NM_001267550.2(TTN):c.13700A>G (p.Asp4567Gly)
|
rs745641339
|
0.00007
|
NM_001267550.2(TTN):c.32035G>A (p.Val10679Ile)
|
rs369932282
|
0.00007
|
NM_001267550.2(TTN):c.32569A>G (p.Lys10857Glu)
|
rs372878566
|
0.00007
|
NM_001267550.2(TTN):c.40141+6C>T
|
rs750448649
|
0.00007
|
NM_001267550.2(TTN):c.40688C>T (p.Thr13563Ile)
|
rs780572853
|
0.00007
|
NM_001267550.2(TTN):c.44588C>T (p.Thr14863Met)
|
rs759406486
|
0.00007
|
NM_001267550.2(TTN):c.47693G>A (p.Arg15898Gln)
|
rs376278449
|
0.00007
|
NM_001267550.2(TTN):c.56533A>C (p.Thr18845Pro)
|
rs375000725
|
0.00007
|
NM_001267550.2(TTN):c.72331G>C (p.Ala24111Pro)
|
rs369671334
|
0.00007
|
NM_001267550.2(TTN):c.77073T>C (p.Asp25691=)
|
rs375398118
|
0.00007
|
NM_001267550.2(TTN):c.78980G>A (p.Arg26327Gln)
|
rs370367786
|
0.00007
|
NM_001267550.2(TTN):c.88954G>A (p.Val29652Ile)
|
rs756561910
|
0.00007
|
NM_001267550.2(TTN):c.9571C>G (p.Gln3191Glu)
|
rs33997263
|
0.00007
|
NM_001267550.2(TTN):c.98243G>A (p.Arg32748His)
|
rs397517775
|
0.00007
|
NM_001458.5(FLNC):c.1142G>A (p.Arg381His)
|
rs776469396
|
0.00007
|
NM_001458.5(FLNC):c.2419C>T (p.Pro807Ser)
|
rs946201226
|
0.00007
|
NM_001458.5(FLNC):c.8020G>A (p.Gly2674Ser)
|
rs372338218
|
0.00007
|
NM_007078.3(LDB3):c.1289C>A (p.Thr430Asn)
|
rs746183666
|
0.00007
|
NM_007078.3(LDB3):c.1858-11C>A
|
rs369454227
|
0.00007
|
NM_007078.3(LDB3):c.422C>T (p.Thr141Ile)
|
rs141078955
|
0.00007
|
NM_001145809.2(MYH14):c.5469+13del
|
rs760445854
|
0.00006
|
NM_001267550.2(TTN):c.-118G>A
|
rs886055310
|
0.00006
|
NM_001267550.2(TTN):c.104000T>C (p.Ile34667Thr)
|
rs727504476
|
0.00006
|
NM_001267550.2(TTN):c.104222C>T (p.Thr34741Ile)
|
rs727505306
|
0.00006
|
NM_001267550.2(TTN):c.104912C>T (p.Ala34971Val)
|
rs1419052992
|
0.00006
|
NM_001267550.2(TTN):c.106267G>T (p.Val35423Phe)
|
rs763752622
|
0.00006
|
NM_001267550.2(TTN):c.1231A>C (p.Thr411Pro)
|
rs911182620
|
0.00006
|
NM_001267550.2(TTN):c.21653C>T (p.Ala7218Val)
|
rs763125654
|
0.00006
|
NM_001267550.2(TTN):c.26506C>T (p.Pro8836Ser)
|
rs776799144
|
0.00006
|
NM_001267550.2(TTN):c.27015T>C (p.Gly9005=)
|
rs727503643
|
0.00006
|
NM_001267550.2(TTN):c.28232G>A (p.Gly9411Glu)
|
rs563866126
|
0.00006
|
NM_001267550.2(TTN):c.29577A>G (p.Gln9859=)
|
rs368780181
|
0.00006
|
NM_001267550.2(TTN):c.31456A>T (p.Ile10486Phe)
|
rs772882862
|
0.00006
|
NM_001267550.2(TTN):c.35890C>T (p.Arg11964Ter)
|
rs1266298136
|
0.00006
|
NM_001267550.2(TTN):c.39067G>T (p.Val13023Phe)
|
rs774402932
|
0.00006
|
NM_001267550.2(TTN):c.39289C>G (p.Pro13097Ala)
|
rs370157162
|
0.00006
|
NM_001267550.2(TTN):c.44273G>A (p.Arg14758Gln)
|
rs770389312
|
0.00006
|
NM_001267550.2(TTN):c.44492G>A (p.Gly14831Glu)
|
rs751929345
|
0.00006
|
NM_001267550.2(TTN):c.47866G>A (p.Asp15956Asn)
|
rs372881122
|
0.00006
|
NM_001267550.2(TTN):c.48751G>A (p.Asp16251Asn)
|
rs199954570
|
0.00006
|
NM_001267550.2(TTN):c.48838G>A (p.Ala16280Thr)
|
rs372911542
|
0.00006
|
NM_001267550.2(TTN):c.49801G>T (p.Val16601Leu)
|
rs773271774
|
0.00006
|
NM_001267550.2(TTN):c.53002+10G>A
|
rs370352450
|
0.00006
|
NM_001267550.2(TTN):c.53744G>A (p.Arg17915Gln)
|
rs758896047
|
0.00006
|
NM_001267550.2(TTN):c.54518C>A (p.Pro18173Gln)
|
rs794729458
|
0.00006
|
NM_001267550.2(TTN):c.55139T>C (p.Ile18380Thr)
|
rs72646819
|
0.00006
|
NM_001267550.2(TTN):c.55661G>A (p.Arg18554Gln)
|
rs202126861
|
0.00006
|
NM_001267550.2(TTN):c.56315C>T (p.Thr18772Ile)
|
rs370118111
|
0.00006
|
NM_001267550.2(TTN):c.5665G>T (p.Val1889Phe)
|
rs141105443
|
0.00006
|
NM_001267550.2(TTN):c.570A>T (p.Glu190Asp)
|
rs753196873
|
0.00006
|
NM_001267550.2(TTN):c.58732+6C>T
|
rs778350235
|
0.00006
|
NM_001267550.2(TTN):c.59474G>C (p.Arg19825Thr)
|
rs376465623
|
0.00006
|
NM_001267550.2(TTN):c.65389T>G (p.Cys21797Gly)
|
rs375830234
|
0.00006
|
NM_001267550.2(TTN):c.6639G>T (p.Glu2213Asp)
|
rs745719077
|
0.00006
|
NM_001267550.2(TTN):c.66589C>T (p.Arg22197Trp)
|
rs774696610
|
0.00006
|
NM_001267550.2(TTN):c.67606G>A (p.Glu22536Lys)
|
rs371105318
|
0.00006
|
NM_001267550.2(TTN):c.73491T>C (p.Tyr24497=)
|
rs545377175
|
0.00006
|
NM_001267550.2(TTN):c.76922G>A (p.Arg25641His)
|
rs369707906
|
0.00006
|
NM_001267550.2(TTN):c.77749T>C (p.Tyr25917His)
|
rs370137092
|
0.00006
|
NM_001267550.2(TTN):c.80290G>A (p.Gly26764Arg)
|
rs727505213
|
0.00006
|
NM_001267550.2(TTN):c.81503G>A (p.Arg27168His)
|
rs374160272
|
0.00006
|
NM_001267550.2(TTN):c.83600C>G (p.Pro27867Arg)
|
rs374119634
|
0.00006
|
NM_001267550.2(TTN):c.85115G>A (p.Gly28372Glu)
|
rs190721759
|
0.00006
|
NM_001267550.2(TTN):c.851C>T (p.Ser284Leu)
|
rs775566677
|
0.00006
|
NM_001267550.2(TTN):c.85976A>C (p.Lys28659Thr)
|
rs200724395
|
0.00006
|
NM_001267550.2(TTN):c.88622T>C (p.Ile29541Thr)
|
rs768292510
|
0.00006
|
NM_001267550.2(TTN):c.92137G>C (p.Ala30713Pro)
|
rs367807708
|
0.00006
|
NM_001267550.2(TTN):c.93323T>C (p.Ile31108Thr)
|
rs373732722
|
0.00006
|
NM_001267550.2(TTN):c.94774G>A (p.Val31592Ile)
|
rs370918800
|
0.00006
|
NM_001267550.2(TTN):c.96424G>A (p.Val32142Ile)
|
rs779663332
|
0.00006
|
NM_001267550.2(TTN):c.96637G>A (p.Asp32213Asn)
|
rs764561909
|
0.00006
|
NM_001267550.2(TTN):c.99178A>C (p.Ile33060Leu)
|
rs142108986
|
0.00006
|
NM_001289808.2(CRYAB):c.37C>A (p.Pro13Thr)
|
rs1349139935
|
0.00006
|
NM_001368067.1(LDB3):c.324G>A (p.Val108=)
|
rs397516556
|
0.00006
|
NM_001368067.1(LDB3):c.787C>T (p.Arg263Cys)
|
rs377201153
|
0.00006
|
NM_001458.5(FLNC):c.1589A>T (p.Asp530Val)
|
rs1371853934
|
0.00006
|
NM_001458.5(FLNC):c.1885C>T (p.Arg629Trp)
|
rs759376455
|
0.00006
|
NM_001458.5(FLNC):c.3458T>G (p.Phe1153Cys)
|
rs138663492
|
0.00006
|
NM_001458.5(FLNC):c.3887C>T (p.Ser1296Leu)
|
rs747587140
|
0.00006
|
NM_001458.5(FLNC):c.5071G>A (p.Asp1691Asn)
|
rs777061037
|
0.00006
|
NM_001458.5(FLNC):c.5468C>T (p.Thr1823Met)
|
rs140857707
|
0.00006
|
NM_001458.5(FLNC):c.6005G>T (p.Gly2002Val)
|
rs747796553
|
0.00006
|
NM_001458.5(FLNC):c.7090C>T (p.Arg2364Cys)
|
rs374973240
|
0.00006
|
NM_006790.3(MYOT):c.-165C>T
|
rs866748883
|
0.00006
|
NM_006790.3(MYOT):c.1203T>A (p.Asp401Glu)
|
rs78633961
|
0.00006
|
NM_007078.3(LDB3):c.1430A>G (p.Tyr477Cys)
|
rs529178109
|
0.00006
|
NM_007078.3(LDB3):c.676G>A (p.Gly226Arg)
|
rs771099131
|
0.00006
|
NM_007078.3(LDB3):c.690-4619G>T
|
rs761090088
|
0.00006
|
NM_007078.3(LDB3):c.713C>A (p.Ala238Asp)
|
rs369398522
|
0.00006
|
NM_007078.3(LDB3):c.897-6745C>T
|
rs746256049
|
0.00006
|
NM_018834.6(MATR3):c.*2241A>G
|
rs886060006
|
0.00006
|
NM_018834.6(MATR3):c.2374A>G (p.Ile792Val)
|
rs766453846
|
0.00006
|
NM_133379.5(TTN):c.13939del (p.Glu4647fs)
|
rs781363456
|
0.00006
|
NM_133379.5(TTN):c.13984A>G (p.Ile4662Val)
|
rs374783099
|
0.00006
|
NM_133379.5(TTN):c.14321A>G (p.Lys4774Arg)
|
rs768589711
|
0.00006
|
NM_133379.5(TTN):c.16582G>A (p.Gly5528Ser)
|
rs762590088
|
0.00006
|
NM_001267550.2(TTN):c.101251A>C (p.Asn33751His)
|
rs753658469
|
0.00005
|
NM_001267550.2(TTN):c.101439G>A (p.Lys33813=)
|
rs72629781
|
0.00005
|
NM_001267550.2(TTN):c.10204G>A (p.Glu3402Lys)
|
rs766262957
|
0.00005
|
NM_001267550.2(TTN):c.103910G>A (p.Arg34637Gln)
|
rs199642423
|
0.00005
|
NM_001267550.2(TTN):c.106388G>C (p.Gly35463Ala)
|
rs373369136
|
0.00005
|
NM_001267550.2(TTN):c.10654G>C (p.Ala3552Pro)
|
rs774004409
|
0.00005
|
NM_001267550.2(TTN):c.13979C>T (p.Thr4660Met)
|
rs754231728
|
0.00005
|
NM_001267550.2(TTN):c.15253G>A (p.Asp5085Asn)
|
rs374299783
|
0.00005
|
NM_001267550.2(TTN):c.15453T>C (p.Asn5151=)
|
rs201343844
|
0.00005
|
NM_001267550.2(TTN):c.1895G>A (p.Gly632Asp)
|
rs150231219
|
0.00005
|
NM_001267550.2(TTN):c.23065G>A (p.Asp7689Asn)
|
rs727505052
|
0.00005
|
NM_001267550.2(TTN):c.2734C>T (p.Arg912Cys)
|
rs371156190
|
0.00005
|
NM_001267550.2(TTN):c.28205G>A (p.Arg9402His)
|
rs773986121
|
0.00005
|
NM_001267550.2(TTN):c.3148A>G (p.Thr1050Ala)
|
rs940553223
|
0.00005
|
NM_001267550.2(TTN):c.32555-2A>C
|
rs781581062
|
0.00005
|
NM_001267550.2(TTN):c.32803A>G (p.Lys10935Glu)
|
rs397517543
|
0.00005
|
NM_001267550.2(TTN):c.33328C>T (p.Pro11110Ser)
|
rs565328082
|
0.00005
|
NM_001267550.2(TTN):c.34538-12A>G
|
rs376626305
|
0.00005
|
NM_001267550.2(TTN):c.39941C>A (p.Thr13314Asn)
|
rs543338451
|
0.00005
|
NM_001267550.2(TTN):c.415C>T (p.Arg139Trp)
|
rs752970602
|
0.00005
|
NM_001267550.2(TTN):c.4321C>T (p.Arg1441Cys)
|
rs146241078
|
0.00005
|
NM_001267550.2(TTN):c.44078G>A (p.Arg14693His)
|
rs746380621
|
0.00005
|
NM_001267550.2(TTN):c.46884G>A (p.Lys15628=)
|
rs760251812
|
0.00005
|
NM_001267550.2(TTN):c.47942C>T (p.Thr15981Met)
|
rs150364979
|
0.00005
|
NM_001267550.2(TTN):c.4945G>A (p.Val1649Ile)
|
rs138931943
|
0.00005
|
NM_001267550.2(TTN):c.50269G>A (p.Ala16757Thr)
|
rs886042536
|
0.00005
|
NM_001267550.2(TTN):c.51185G>A (p.Ser17062Asn)
|
rs876658064
|
0.00005
|
NM_001267550.2(TTN):c.51359G>A (p.Arg17120His)
|
rs778885931
|
0.00005
|
NM_001267550.2(TTN):c.54167G>A (p.Arg18056Gln)
|
rs376932266
|
0.00005
|
NM_001267550.2(TTN):c.54581G>A (p.Gly18194Asp)
|
rs201802447
|
0.00005
|
NM_001267550.2(TTN):c.56535G>A (p.Thr18845=)
|
rs529480368
|
0.00005
|
NM_001267550.2(TTN):c.56871C>T (p.Ser18957=)
|
rs370619063
|
0.00005
|
NM_001267550.2(TTN):c.57593A>G (p.Asn19198Ser)
|
rs199787097
|
0.00005
|
NM_001267550.2(TTN):c.59813C>T (p.Ala19938Val)
|
rs1187337182
|
0.00005
|
NM_001267550.2(TTN):c.59926C>T (p.His19976Tyr)
|
rs727503588
|
0.00005
|
NM_001267550.2(TTN):c.61289G>A (p.Cys20430Tyr)
|
rs527704660
|
0.00005
|
NM_001267550.2(TTN):c.61916A>G (p.Tyr20639Cys)
|
rs756303390
|
0.00005
|
NM_001267550.2(TTN):c.64903C>T (p.Arg21635Cys)
|
rs201614524
|
0.00005
|
NM_001267550.2(TTN):c.68298C>A (p.Asp22766Glu)
|
rs534340303
|
0.00005
|
NM_001267550.2(TTN):c.69376G>C (p.Val23126Leu)
|
rs756671149
|
0.00005
|
NM_001267550.2(TTN):c.7817C>T (p.Ala2606Val)
|
rs370857722
|
0.00005
|
NM_001267550.2(TTN):c.80168G>A (p.Arg26723His)
|
rs371615296
|
0.00005
|
NM_001267550.2(TTN):c.81647G>A (p.Arg27216His)
|
rs371910831
|
0.00005
|
NM_001267550.2(TTN):c.81737T>C (p.Ile27246Thr)
|
rs367603381
|
0.00005
|
NM_001267550.2(TTN):c.82220T>C (p.Ile27407Thr)
|
rs376037252
|
0.00005
|
NM_001267550.2(TTN):c.8312T>C (p.Ile2771Thr)
|
rs780465670
|
0.00005
|
NM_001267550.2(TTN):c.84362C>A (p.Thr28121Lys)
|
rs397517726
|
0.00005
|
NM_001267550.2(TTN):c.84848A>G (p.Lys28283Arg)
|
rs545841306
|
0.00005
|
NM_001267550.2(TTN):c.86448C>A (p.Asn28816Lys)
|
rs774349799
|
0.00005
|
NM_001267550.2(TTN):c.87010G>A (p.Gly29004Ser)
|
rs761251825
|
0.00005
|
NM_001267550.2(TTN):c.89500C>A (p.Leu29834Ile)
|
rs761591533
|
0.00005
|
NM_001267550.2(TTN):c.89711G>A (p.Arg29904His)
|
rs397517744
|
0.00005
|
NM_001267550.2(TTN):c.90452T>C (p.Leu30151Pro)
|
rs568322187
|
0.00005
|
NM_001267550.2(TTN):c.9509T>C (p.Val3170Ala)
|
rs779339626
|
0.00005
|
NM_001267550.2(TTN):c.96286G>A (p.Ala32096Thr)
|
rs376039623
|
0.00005
|
NM_001267550.2(TTN):c.97156G>A (p.Gly32386Arg)
|
rs758534800
|
0.00005
|
NM_001267550.2(TTN):c.97378A>G (p.Lys32460Glu)
|
rs965156924
|
0.00005
|
NM_001267550.2(TTN):c.98866A>G (p.Met32956Val)
|
rs727503538
|
0.00005
|
NM_001289808.2(CRYAB):c.367C>T (p.Arg123Trp)
|
rs534473091
|
0.00005
|
NM_001289808.2(CRYAB):c.470G>A (p.Arg157His)
|
rs141638421
|
0.00005
|
NM_001368067.1(LDB3):c.346G>A (p.Ala116Thr)
|
rs200458194
|
0.00005
|
NM_001368067.1(LDB3):c.370C>A (p.Pro124Thr)
|
rs755513516
|
0.00005
|
NM_001458.5(FLNC):c.2272G>A (p.Val758Met)
|
rs371418145
|
0.00005
|
NM_001458.5(FLNC):c.2425G>A (p.Val809Met)
|
rs775770671
|
0.00005
|
NM_001458.5(FLNC):c.2888C>T (p.Pro963Leu)
|
rs963838554
|
0.00005
|
NM_001458.5(FLNC):c.3790G>A (p.Gly1264Ser)
|
rs201335143
|
0.00005
|
NM_001458.5(FLNC):c.4092G>C (p.Leu1364Phe)
|
rs768635501
|
0.00005
|
NM_001458.5(FLNC):c.4222G>A (p.Glu1408Lys)
|
rs965589915
|
0.00005
|
NM_001458.5(FLNC):c.4627C>T (p.Arg1543Trp)
|
rs745648230
|
0.00005
|
NM_001458.5(FLNC):c.517G>T (p.Val173Leu)
|
rs376235207
|
0.00005
|
NM_001458.5(FLNC):c.5431C>T (p.Arg1811Trp)
|
rs374794518
|
0.00005
|
NM_006790.3(MYOT):c.1458G>A (p.Leu486=)
|
rs202139846
|
0.00005
|
NM_006790.3(MYOT):c.642C>A (p.Asn214Lys)
|
rs957169726
|
0.00005
|
NM_007078.3(LDB3):c.1339C>G (p.Pro447Ala)
|
rs397517211
|
0.00005
|
NM_007078.3(LDB3):c.1547G>A (p.Arg516Gln)
|
rs762985970
|
0.00005
|
NM_007078.3(LDB3):c.1654G>A (p.Gly552Ser)
|
rs771007816
|
0.00005
|
NM_007078.3(LDB3):c.1904T>G (p.Val635Gly)
|
rs567014755
|
0.00005
|
NM_007078.3(LDB3):c.610G>A (p.Ala204Thr)
|
rs774976112
|
0.00005
|
NM_007078.3(LDB3):c.668C>T (p.Ser223Leu)
|
rs375306400
|
0.00005
|
NM_007078.3(LDB3):c.793C>T (p.Arg265Cys)
|
rs45521338
|
0.00005
|
NM_007078.3(LDB3):c.897-6665C>T
|
rs549156118
|
0.00005
|
NM_007078.3(LDB3):c.992C>T (p.Ala331Val)
|
rs368053281
|
0.00005
|
NM_133379.5(TTN):c.10837G>A (p.Ala3613Thr)
|
rs144967245
|
0.00005
|
NM_133379.5(TTN):c.15349T>G (p.Tyr5117Asp)
|
rs201308378
|
0.00005
|
NM_133379.5(TTN):c.16135C>T (p.Pro5379Ser)
|
rs182516675
|
0.00005
|
NM_001267550.2(TTN):c.*197C>G
|
rs886055216
|
0.00004
|
NM_001267550.2(TTN):c.*898A>C
|
rs998874416
|
0.00004
|
NM_001267550.2(TTN):c.100163G>A (p.Ser33388Asn)
|
rs745406517
|
0.00004
|
NM_001267550.2(TTN):c.104204C>T (p.Thr34735Met)
|
rs755986938
|
0.00004
|
NM_001267550.2(TTN):c.104575C>T (p.Arg34859Trp)
|
rs879243057
|
0.00004
|
NM_001267550.2(TTN):c.104893G>C (p.Val34965Leu)
|
rs886042785
|
0.00004
|
NM_001267550.2(TTN):c.107728G>A (p.Glu35910Lys)
|
rs370649675
|
0.00004
|
NM_001267550.2(TTN):c.11615G>T (p.Gly3872Val)
|
rs751755895
|
0.00004
|
NM_001267550.2(TTN):c.14213G>A (p.Arg4738Gln)
|
rs553541436
|
0.00004
|
NM_001267550.2(TTN):c.1447G>A (p.Ala483Thr)
|
rs34337578
|
0.00004
|
NM_001267550.2(TTN):c.15947C>T (p.Ala5316Val)
|
rs879242937
|
0.00004
|
NM_001267550.2(TTN):c.16234G>A (p.Ala5412Thr)
|
rs727504442
|
0.00004
|
NM_001267550.2(TTN):c.16310G>A (p.Ser5437Asn)
|
rs794727755
|
0.00004
|
NM_001267550.2(TTN):c.16517C>T (p.Ser5506Phe)
|
rs201125295
|
0.00004
|
NM_001267550.2(TTN):c.19377G>A (p.Val6459=)
|
rs371652207
|
0.00004
|
NM_001267550.2(TTN):c.19770A>G (p.Thr6590=)
|
rs775289296
|
0.00004
|
NM_001267550.2(TTN):c.20057G>A (p.Arg6686Gln)
|
rs202022304
|
0.00004
|
NM_001267550.2(TTN):c.20170G>A (p.Val6724Ile)
|
rs140143513
|
0.00004
|
NM_001267550.2(TTN):c.20426T>C (p.Ile6809Thr)
|
rs879197315
|
0.00004
|
NM_001267550.2(TTN):c.21844G>A (p.Glu7282Lys)
|
rs778532757
|
0.00004
|
NM_001267550.2(TTN):c.28104A>G (p.Ala9368=)
|
rs886055291
|
0.00004
|
NM_001267550.2(TTN):c.29015C>T (p.Thr9672Ile)
|
rs769996978
|
0.00004
|
NM_001267550.2(TTN):c.29231G>A (p.Arg9744His)
|
rs760305440
|
0.00004
|
NM_001267550.2(TTN):c.30826T>G (p.Ser10276Ala)
|
rs778063825
|
0.00004
|
NM_001267550.2(TTN):c.30941T>C (p.Ile10314Thr)
|
rs886055288
|
0.00004
|
NM_001267550.2(TTN):c.31156G>A (p.Glu10386Lys)
|
rs772195716
|
0.00004
|
NM_001267550.2(TTN):c.31821G>T (p.Lys10607Asn)
|
rs746722623
|
0.00004
|
NM_001267550.2(TTN):c.32591A>G (p.Lys10864Arg)
|
rs767155246
|
0.00004
|
NM_001267550.2(TTN):c.32735C>T (p.Pro10912Leu)
|
rs781655223
|
0.00004
|
NM_001267550.2(TTN):c.33419-9T>C
|
rs1030703466
|
0.00004
|
NM_001267550.2(TTN):c.34027G>A (p.Val11343Ile)
|
rs369025108
|
0.00004
|
NM_001267550.2(TTN):c.36776C>T (p.Ala12259Val)
|
rs755562550
|
0.00004
|
NM_001267550.2(TTN):c.38845C>T (p.Pro12949Ser)
|
rs757781411
|
0.00004
|
NM_001267550.2(TTN):c.39235G>A (p.Val13079Ile)
|
rs777119867
|
0.00004
|
NM_001267550.2(TTN):c.40558+1G>A
|
rs368219776
|
0.00004
|
NM_001267550.2(TTN):c.41474G>A (p.Arg13825Gln)
|
rs727504774
|
0.00004
|
NM_001267550.2(TTN):c.42434T>C (p.Met14145Thr)
|
rs794729427
|
0.00004
|
NM_001267550.2(TTN):c.42851G>A (p.Arg14284His)
|
rs368572799
|
0.00004
|
NM_001267550.2(TTN):c.44113G>A (p.Ala14705Thr)
|
rs751017081
|
0.00004
|
NM_001267550.2(TTN):c.44435G>A (p.Arg14812His)
|
rs375574483
|
0.00004
|
NM_001267550.2(TTN):c.45054G>A (p.Ala15018=)
|
rs781392140
|
0.00004
|
NM_001267550.2(TTN):c.45128G>A (p.Ser15043Asn)
|
rs376144178
|
0.00004
|
NM_001267550.2(TTN):c.45199G>A (p.Asp15067Asn)
|
rs370904881
|
0.00004
|
NM_001267550.2(TTN):c.47278G>A (p.Gly15760Ser)
|
rs372404266
|
0.00004
|
NM_001267550.2(TTN):c.47698G>A (p.Glu15900Lys)
|
rs772625773
|
0.00004
|
NM_001267550.2(TTN):c.53060G>T (p.Gly17687Val)
|
rs780672348
|
0.00004
|
NM_001267550.2(TTN):c.53213A>T (p.Asp17738Val)
|
rs773447539
|
0.00004
|
NM_001267550.2(TTN):c.54649A>G (p.Ser18217Gly)
|
rs201001270
|
0.00004
|
NM_001267550.2(TTN):c.54813T>G (p.Phe18271Leu)
|
rs370583314
|
0.00004
|
NM_001267550.2(TTN):c.55520G>A (p.Gly18507Glu)
|
rs794727388
|
0.00004
|
NM_001267550.2(TTN):c.56581G>A (p.Ala18861Thr)
|
rs368419410
|
0.00004
|
NM_001267550.2(TTN):c.56761C>T (p.Leu18921=)
|
rs769824680
|
0.00004
|
NM_001267550.2(TTN):c.56872G>A (p.Asp18958Asn)
|
rs576158850
|
0.00004
|
NM_001267550.2(TTN):c.58939G>A (p.Gly19647Arg)
|
rs201430346
|
0.00004
|
NM_001267550.2(TTN):c.59033T>C (p.Ile19678Thr)
|
rs746014701
|
0.00004
|
NM_001267550.2(TTN):c.6008G>A (p.Arg2003His)
|
rs753167856
|
0.00004
|
NM_001267550.2(TTN):c.61826G>A (p.Arg20609His)
|
rs372546292
|
0.00004
|
NM_001267550.2(TTN):c.62137G>A (p.Asp20713Asn)
|
rs1177521349
|
0.00004
|
NM_001267550.2(TTN):c.62486T>G (p.Phe20829Cys)
|
rs878916429
|
0.00004
|
NM_001267550.2(TTN):c.62780G>A (p.Arg20927His)
|
rs397517652
|
0.00004
|
NM_001267550.2(TTN):c.62816G>A (p.Arg20939His)
|
rs777095470
|
0.00004
|
NM_001267550.2(TTN):c.63134G>C (p.Gly21045Ala)
|
rs878968094
|
0.00004
|
NM_001267550.2(TTN):c.63181C>T (p.Pro21061Ser)
|
rs375401971
|
0.00004
|
NM_001267550.2(TTN):c.63458T>C (p.Ile21153Thr)
|
rs772411127
|
0.00004
|
NM_001267550.2(TTN):c.65173G>A (p.Val21725Ile)
|
rs368716894
|
0.00004
|
NM_001267550.2(TTN):c.65590G>C (p.Asp21864His)
|
rs375149365
|
0.00004
|
NM_001267550.2(TTN):c.656C>T (p.Thr219Ile)
|
rs926062512
|
0.00004
|
NM_001267550.2(TTN):c.66187G>C (p.Val22063Leu)
|
rs768057735
|
0.00004
|
NM_001267550.2(TTN):c.66568G>C (p.Gly22190Arg)
|
rs757537780
|
0.00004
|
NM_001267550.2(TTN):c.67643C>T (p.Pro22548Leu)
|
rs763002536
|
0.00004
|
NM_001267550.2(TTN):c.67882G>A (p.Val22628Ile)
|
rs775731759
|
0.00004
|
NM_001267550.2(TTN):c.68007G>A (p.Lys22669=)
|
rs755897447
|
0.00004
|
NM_001267550.2(TTN):c.68791A>C (p.Ser22931Arg)
|
rs794729484
|
0.00004
|
NM_001267550.2(TTN):c.70288G>A (p.Val23430Ile)
|
rs549709481
|
0.00004
|
NM_001267550.2(TTN):c.70570A>G (p.Thr23524Ala)
|
rs369526268
|
0.00004
|
NM_001267550.2(TTN):c.70748C>A (p.Thr23583Lys)
|
rs397517687
|
0.00004
|
NM_001267550.2(TTN):c.73247C>T (p.Thr24416Ile)
|
rs768476881
|
0.00004
|
NM_001267550.2(TTN):c.74225G>A (p.Arg24742His)
|
rs761823581
|
0.00004
|
NM_001267550.2(TTN):c.75954G>T (p.Lys25318Asn)
|
rs1001852514
|
0.00004
|
NM_001267550.2(TTN):c.77816A>C (p.Asp25939Ala)
|
rs397517712
|
0.00004
|
NM_001267550.2(TTN):c.79969G>T (p.Asp26657Tyr)
|
rs781076407
|
0.00004
|
NM_001267550.2(TTN):c.8051A>G (p.Asp2684Gly)
|
rs1008197005
|
0.00004
|
NM_001267550.2(TTN):c.81229G>A (p.Gly27077Arg)
|
rs878898668
|
0.00004
|
NM_001267550.2(TTN):c.82526G>A (p.Arg27509Gln)
|
rs1246168127
|
0.00004
|
NM_001267550.2(TTN):c.84385G>T (p.Val28129Phe)
|
rs752974639
|
0.00004
|
NM_001267550.2(TTN):c.8494G>C (p.Val2832Leu)
|
rs375549179
|
0.00004
|
NM_001267550.2(TTN):c.85380A>G (p.Ile28460Met)
|
rs768545532
|
0.00004
|
NM_001267550.2(TTN):c.85838C>T (p.Thr28613Ile)
|
rs368615862
|
0.00004
|
NM_001267550.2(TTN):c.86420G>A (p.Arg28807His)
|
rs375800916
|
0.00004
|
NM_001267550.2(TTN):c.86809G>A (p.Val28937Ile)
|
rs794727453
|
0.00004
|
NM_001267550.2(TTN):c.88513C>T (p.Arg29505Cys)
|
rs372360369
|
0.00004
|
NM_001267550.2(TTN):c.89230G>A (p.Ala29744Thr)
|
rs201592005
|
0.00004
|
NM_001267550.2(TTN):c.89309T>C (p.Val29770Ala)
|
rs755018367
|
0.00004
|
NM_001267550.2(TTN):c.89491A>G (p.Lys29831Glu)
|
rs774632104
|
0.00004
|
NM_001267550.2(TTN):c.9050G>A (p.Arg3017Lys)
|
rs372303620
|
0.00004
|
NM_001267550.2(TTN):c.91307G>A (p.Arg30436Gln)
|
rs770081431
|
0.00004
|
NM_001267550.2(TTN):c.9167G>A (p.Arg3056His)
|
rs547301978
|
0.00004
|
NM_001267550.2(TTN):c.92222C>T (p.Ala30741Val)
|
rs202090888
|
0.00004
|
NM_001267550.2(TTN):c.92363G>A (p.Gly30788Asp)
|
rs754125601
|
0.00004
|
NM_001267550.2(TTN):c.92561T>C (p.Ile30854Thr)
|
rs368427408
|
0.00004
|
NM_001267550.2(TTN):c.92716G>A (p.Asp30906Asn)
|
rs534881266
|
0.00004
|
NM_001267550.2(TTN):c.93527T>C (p.Leu31176Pro)
|
rs773083742
|
0.00004
|
NM_001267550.2(TTN):c.93968C>T (p.Ala31323Val)
|
rs200345129
|
0.00004
|
NM_001267550.2(TTN):c.95806G>A (p.Asp31936Asn)
|
rs267599025
|
0.00004
|
NM_001267550.2(TTN):c.96140C>T (p.Thr32047Met)
|
rs375640847
|
0.00004
|
NM_001267550.2(TTN):c.9650A>C (p.Glu3217Ala)
|
rs1014216424
|
0.00004
|
NM_001267550.2(TTN):c.98759G>A (p.Arg32920Gln)
|
rs752015224
|
0.00004
|
NM_001267550.2(TTN):c.99521T>C (p.Ile33174Thr)
|
rs879116103
|
0.00004
|
NM_001289808.2(CRYAB):c.275A>G (p.Lys92Arg)
|
rs1256600488
|
0.00004
|
NM_001368067.1(LDB3):c.333C>G (p.Asn111Lys)
|
rs369470035
|
0.00004
|
NM_001368067.1(LDB3):c.770C>T (p.Thr257Met)
|
rs375798002
|
0.00004
|
NM_001368067.1(LDB3):c.802C>T (p.Arg268Cys)
|
rs121908335
|
0.00004
|
NM_001458.5(FLNC):c.1082G>A (p.Arg361His)
|
rs752888774
|
0.00004
|
NM_001458.5(FLNC):c.1225G>A (p.Asp409Asn)
|
rs371913931
|
0.00004
|
NM_001458.5(FLNC):c.1261C>T (p.Arg421Trp)
|
rs759075520
|
0.00004
|
NM_001458.5(FLNC):c.140A>G (p.Asn47Ser)
|
rs770861991
|
0.00004
|
NM_001458.5(FLNC):c.2164G>A (p.Gly722Ser)
|
rs762248114
|
0.00004
|
NM_001458.5(FLNC):c.2450T>C (p.Ile817Thr)
|
rs200653747
|
0.00004
|
NM_001458.5(FLNC):c.2519G>A (p.Arg840His)
|
rs376472014
|
0.00004
|
NM_001458.5(FLNC):c.2737G>A (p.Glu913Lys)
|
rs774707336
|
0.00004
|
NM_001458.5(FLNC):c.2842G>A (p.Gly948Arg)
|
rs768103657
|
0.00004
|
NM_001458.5(FLNC):c.3004C>T (p.Arg1002Trp)
|
rs555764780
|
0.00004
|
NM_001458.5(FLNC):c.3133C>A (p.His1045Asn)
|
rs201863231
|
0.00004
|
NM_001458.5(FLNC):c.3680C>T (p.Thr1227Ile)
|
rs373573447
|
0.00004
|
NM_001458.5(FLNC):c.3722G>A (p.Arg1241His)
|
rs370520806
|
0.00004
|
NM_001458.5(FLNC):c.4003G>A (p.Val1335Met)
|
rs368220468
|
0.00004
|
NM_001458.5(FLNC):c.4055G>A (p.Arg1352His)
|
rs746731567
|
0.00004
|
NM_001458.5(FLNC):c.4556A>G (p.Tyr1519Cys)
|
rs1012086057
|
0.00004
|
NM_001458.5(FLNC):c.4660A>C (p.Ile1554Leu)
|
rs754224673
|
0.00004
|
NM_001458.5(FLNC):c.4951+3G>A
|
rs377554196
|
0.00004
|
NM_001458.5(FLNC):c.5709G>T (p.Glu1903Asp)
|
rs1279073825
|
0.00004
|
NM_001458.5(FLNC):c.5792G>A (p.Arg1931His)
|
rs780685346
|
0.00004
|
NM_001458.5(FLNC):c.5945G>A (p.Arg1982His)
|
rs375046429
|
0.00004
|
NM_001458.5(FLNC):c.6157G>A (p.Glu2053Lys)
|
rs761922251
|
0.00004
|
NM_001458.5(FLNC):c.7229G>A (p.Arg2410His)
|
rs558239439
|
0.00004
|
NM_001458.5(FLNC):c.7560C>T (p.Thr2520=)
|
rs527921534
|
0.00004
|
NM_001458.5(FLNC):c.7618G>C (p.Val2540Leu)
|
rs746349463
|
0.00004
|
NM_001458.5(FLNC):c.7877G>A (p.Ser2626Asn)
|
rs2639142
|
0.00004
|
NM_001458.5(FLNC):c.81C>A (p.Asp27Glu)
|
rs1318316375
|
0.00004
|
NM_001458.5(FLNC):c.925G>A (p.Glu309Lys)
|
rs781212262
|
0.00004
|
NM_006790.3(MYOT):c.*418T>C
|
rs778508971
|
0.00004
|
NM_006790.3(MYOT):c.1159G>A (p.Glu387Lys)
|
rs373489115
|
0.00004
|
NM_006790.3(MYOT):c.593T>C (p.Val198Ala)
|
rs776439973
|
0.00004
|
NM_006790.3(MYOT):c.629C>T (p.Ser210Leu)
|
rs756669574
|
0.00004
|
NM_006790.3(MYOT):c.656G>A (p.Arg219Gln)
|
rs745792335
|
0.00004
|
NM_007078.3(LDB3):c.1225C>A (p.Gln409Lys)
|
rs139104492
|
0.00004
|
NM_007078.3(LDB3):c.1403A>G (p.Asn468Ser)
|
rs730880129
|
0.00004
|
NM_007078.3(LDB3):c.1667A>G (p.Asn556Ser)
|
rs372583830
|
0.00004
|
NM_007078.3(LDB3):c.1972G>A (p.Glu658Lys)
|
rs760563152
|
0.00004
|
NM_007078.3(LDB3):c.2017G>A (p.Asp673Asn)
|
rs45514002
|
0.00004
|
NM_007078.3(LDB3):c.2174T>A (p.Ile725Asn)
|
rs748399477
|
0.00004
|
NM_007078.3(LDB3):c.407C>T (p.Pro136Leu)
|
rs772887402
|
0.00004
|
NM_007078.3(LDB3):c.530C>T (p.Ala177Val)
|
rs397517224
|
0.00004
|
NM_007078.3(LDB3):c.689+3861C>T
|
rs754704023
|
0.00004
|
NM_007078.3(LDB3):c.690-4617G>A
|
rs754174632
|
0.00004
|
NM_007078.3(LDB3):c.764A>G (p.Lys255Arg)
|
rs199739130
|
0.00004
|
NM_007078.3(LDB3):c.784G>A (p.Glu262Lys)
|
rs374168618
|
0.00004
|
NM_007078.3(LDB3):c.897-6692C>T
|
rs1286351667
|
0.00004
|
NM_007078.3(LDB3):c.944C>T (p.Pro315Leu)
|
rs371649487
|
0.00004
|
NM_018834.6(MATR3):c.*2098A>G
|
rs774066454
|
0.00004
|
NM_018834.6(MATR3):c.1778+3A>G
|
rs568895329
|
0.00004
|
NM_018834.6(MATR3):c.1778+5T>C
|
rs377212154
|
0.00004
|
NM_018834.6(MATR3):c.1915A>G (p.Thr639Ala)
|
rs765603068
|
0.00004
|
NM_018834.6(MATR3):c.2314G>A (p.Asp772Asn)
|
rs774070119
|
0.00004
|
NM_018834.6(MATR3):c.561T>G (p.Asp187Glu)
|
rs374819399
|
0.00004
|
NM_022173.4(TIA1):c.1006G>A (p.Gly336Ser)
|
rs200963371
|
0.00004
|
NM_022173.4(TIA1):c.223-3T>A
|
rs750261656
|
0.00004
|
NM_022173.4(TIA1):c.277+3_277+5dup
|
rs1266600719
|
0.00004
|
NM_022173.4(TIA1):c.869T>C (p.Met290Thr)
|
rs116707801
|
0.00004
|
NM_133379.5(TTN):c.10645C>T (p.Arg3549Cys)
|
rs201047740
|
0.00004
|
NM_133379.5(TTN):c.12973C>T (p.Arg4325Cys)
|
rs142273664
|
0.00004
|
NM_133379.5(TTN):c.13153G>T (p.Asp4385Tyr)
|
rs374639358
|
0.00004
|
NM_133379.5(TTN):c.13951A>G (p.Ser4651Gly)
|
rs190193836
|
0.00004
|
NM_133379.5(TTN):c.14111T>A (p.Val4704Asp)
|
rs777880511
|
0.00004
|
NM_133379.5(TTN):c.15230C>T (p.Pro5077Leu)
|
rs757243046
|
0.00004
|
NM_133379.5(TTN):c.16516G>T (p.Glu5506Ter)
|
rs148430495
|
0.00004
|
NM_001145809.2(MYH14):c.1631C>T (p.Pro544Leu)
|
rs371300947
|
0.00003
|
NM_001145809.2(MYH14):c.3913C>T (p.Arg1305Cys)
|
rs755704452
|
0.00003
|
NM_001145809.2(MYH14):c.4088G>A (p.Arg1363His)
|
rs727504915
|
0.00003
|
NM_001145809.2(MYH14):c.4693C>T (p.Arg1565Trp)
|
rs769989306
|
0.00003
|
NM_001145809.2(MYH14):c.5986C>T (p.Arg1996Cys)
|
rs749591626
|
0.00003
|
NM_001267550.2(TTN):c.*636T>G
|
rs886055214
|
0.00003
|
NM_001267550.2(TTN):c.100390G>A (p.Glu33464Lys)
|
rs374920916
|
0.00003
|
NM_001267550.2(TTN):c.10046C>T (p.Thr3349Ile)
|
rs727503678
|
0.00003
|
NM_001267550.2(TTN):c.100829G>A (p.Gly33610Asp)
|
rs373754986
|
0.00003
|
NM_001267550.2(TTN):c.102105T>A (p.Asp34035Glu)
|
rs370647845
|
0.00003
|
NM_001267550.2(TTN):c.102125T>C (p.Ile34042Thr)
|
rs373173599
|
0.00003
|
NM_001267550.2(TTN):c.103829G>A (p.Arg34610His)
|
rs550047610
|
0.00003
|
NM_001267550.2(TTN):c.103906C>T (p.Arg34636Cys)
|
rs768575577
|
0.00003
|
NM_001267550.2(TTN):c.104570T>C (p.Leu34857Pro)
|
rs368765896
|
0.00003
|
NM_001267550.2(TTN):c.105590G>A (p.Gly35197Asp)
|
rs397517796
|
0.00003
|
NM_001267550.2(TTN):c.106996C>G (p.Gln35666Glu)
|
rs750660824
|
0.00003
|
NM_001267550.2(TTN):c.107450C>T (p.Ser35817Leu)
|
rs766440492
|
0.00003
|
NM_001267550.2(TTN):c.1245+3A>G
|
rs757221300
|
0.00003
|
NM_001267550.2(TTN):c.13015G>A (p.Val4339Ile)
|
rs756186781
|
0.00003
|
NM_001267550.2(TTN):c.15196A>G (p.Ser5066Gly)
|
rs756793304
|
0.00003
|
NM_001267550.2(TTN):c.15634G>A (p.Gly5212Arg)
|
rs377754692
|
0.00003
|
NM_001267550.2(TTN):c.15716C>T (p.Thr5239Met)
|
rs756844952
|
0.00003
|
NM_001267550.2(TTN):c.16126C>A (p.Leu5376Met)
|
rs72648936
|
0.00003
|
NM_001267550.2(TTN):c.16160G>C (p.Arg5387Thr)
|
rs748155563
|
0.00003
|
NM_001267550.2(TTN):c.16351A>G (p.Ser5451Gly)
|
rs760722200
|
0.00003
|
NM_001267550.2(TTN):c.16369G>A (p.Gly5457Ser)
|
rs774425875
|
0.00003
|
NM_001267550.2(TTN):c.16863G>A (p.Glu5621=)
|
rs727504441
|
0.00003
|
NM_001267550.2(TTN):c.18646G>A (p.Val6216Met)
|
rs369242073
|
0.00003
|
NM_001267550.2(TTN):c.19118A>G (p.Glu6373Gly)
|
rs367868361
|
0.00003
|
NM_001267550.2(TTN):c.19528A>G (p.Ile6510Val)
|
rs761041978
|
0.00003
|
NM_001267550.2(TTN):c.2083G>A (p.Val695Ile)
|
rs747479318
|
0.00003
|
NM_001267550.2(TTN):c.21163G>T (p.Gly7055Trp)
|
rs375219301
|
0.00003
|
NM_001267550.2(TTN):c.2138G>A (p.Arg713Gln)
|
rs761383124
|
0.00003
|
NM_001267550.2(TTN):c.22513A>G (p.Arg7505Gly)
|
rs372826489
|
0.00003
|
NM_001267550.2(TTN):c.22531C>T (p.Pro7511Ser)
|
rs727505333
|
0.00003
|
NM_001267550.2(TTN):c.22772A>G (p.Asn7591Ser)
|
rs368750726
|
0.00003
|
NM_001267550.2(TTN):c.2370+9A>G
|
rs373443384
|
0.00003
|
NM_001267550.2(TTN):c.24482G>A (p.Cys8161Tyr)
|
rs372143487
|
0.00003
|
NM_001267550.2(TTN):c.24905C>A (p.Thr8302Lys)
|
rs549604128
|
0.00003
|
NM_001267550.2(TTN):c.25180T>G (p.Tyr8394Asp)
|
rs898098652
|
0.00003
|
NM_001267550.2(TTN):c.26551T>G (p.Cys8851Gly)
|
rs558169834
|
0.00003
|
NM_001267550.2(TTN):c.28456A>G (p.Ile9486Val)
|
rs1327402224
|
0.00003
|
NM_001267550.2(TTN):c.29062G>C (p.Ala9688Pro)
|
rs749146795
|
0.00003
|
NM_001267550.2(TTN):c.29785G>A (p.Glu9929Lys)
|
rs1204774037
|
0.00003
|
NM_001267550.2(TTN):c.30137C>T (p.Thr10046Ile)
|
rs535268419
|
0.00003
|
NM_001267550.2(TTN):c.31594G>A (p.Val10532Ile)
|
rs763955552
|
0.00003
|
NM_001267550.2(TTN):c.31672C>A (p.Pro10558Thr)
|
rs769915175
|
0.00003
|
NM_001267550.2(TTN):c.3235C>A (p.Pro1079Thr)
|
rs774643116
|
0.00003
|
NM_001267550.2(TTN):c.32555-12G>T
|
rs397517540
|
0.00003
|
NM_001267550.2(TTN):c.32653A>T (p.Met10885Leu)
|
rs200732179
|
0.00003
|
NM_001267550.2(TTN):c.34072G>T (p.Val11358Phe)
|
rs1227088008
|
0.00003
|
NM_001267550.2(TTN):c.35717C>G (p.Pro11906Arg)
|
rs781317174
|
0.00003
|
NM_001267550.2(TTN):c.36427C>T (p.Pro12143Ser)
|
rs779794774
|
0.00003
|
NM_001267550.2(TTN):c.38681A>G (p.Lys12894Arg)
|
rs574694398
|
0.00003
|
NM_001267550.2(TTN):c.41932G>A (p.Glu13978Lys)
|
rs746667196
|
0.00003
|
NM_001267550.2(TTN):c.43316G>A (p.Arg14439His)
|
rs764117439
|
0.00003
|
NM_001267550.2(TTN):c.43538G>A (p.Ser14513Asn)
|
rs557216748
|
0.00003
|
NM_001267550.2(TTN):c.44366A>G (p.Tyr14789Cys)
|
rs397517577
|
0.00003
|
NM_001267550.2(TTN):c.4532G>A (p.Gly1511Asp)
|
rs751606948
|
0.00003
|
NM_001267550.2(TTN):c.46516G>C (p.Asp15506His)
|
rs755611206
|
0.00003
|
NM_001267550.2(TTN):c.46984C>T (p.Arg15662Cys)
|
rs762723635
|
0.00003
|
NM_001267550.2(TTN):c.47090G>A (p.Arg15697His)
|
rs757663389
|
0.00003
|
NM_001267550.2(TTN):c.47570T>C (p.Ile15857Thr)
|
rs886055272
|
0.00003
|
NM_001267550.2(TTN):c.50479C>T (p.Arg16827Trp)
|
rs727503620
|
0.00003
|
NM_001267550.2(TTN):c.52706C>A (p.Ser17569Tyr)
|
rs756689649
|
0.00003
|
NM_001267550.2(TTN):c.52831G>A (p.Val17611Ile)
|
rs748265704
|
0.00003
|
NM_001267550.2(TTN):c.53926A>G (p.Ile17976Val)
|
rs371424482
|
0.00003
|
NM_001267550.2(TTN):c.5644C>T (p.Arg1882Cys)
|
rs397517658
|
0.00003
|
NM_001267550.2(TTN):c.57300T>G (p.Asp19100Glu)
|
rs876658069
|
0.00003
|
NM_001267550.2(TTN):c.57508G>A (p.Gly19170Arg)
|
rs750947988
|
0.00003
|
NM_001267550.2(TTN):c.58073G>A (p.Arg19358His)
|
rs1023184567
|
0.00003
|
NM_001267550.2(TTN):c.583+4C>T
|
rs764670848
|
0.00003
|
NM_001267550.2(TTN):c.617C>A (p.Thr206Lys)
|
rs768427369
|
0.00003
|
NM_001267550.2(TTN):c.61915T>C (p.Tyr20639His)
|
rs727503587
|
0.00003
|
NM_001267550.2(TTN):c.63185T>G (p.Ile21062Arg)
|
rs575313522
|
0.00003
|
NM_001267550.2(TTN):c.63793G>A (p.Asp21265Asn)
|
rs794729474
|
0.00003
|
NM_001267550.2(TTN):c.64047C>T (p.Gly21349=)
|
rs775357802
|
0.00003
|
NM_001267550.2(TTN):c.64048G>A (p.Val21350Ile)
|
rs772377673
|
0.00003
|
NM_001267550.2(TTN):c.64916G>A (p.Arg21639Gln)
|
rs373282633
|
0.00003
|
NM_001267550.2(TTN):c.66566T>C (p.Ile22189Thr)
|
rs369934753
|
0.00003
|
NM_001267550.2(TTN):c.6668A>T (p.His2223Leu)
|
rs372979075
|
0.00003
|
NM_001267550.2(TTN):c.68390C>T (p.Pro22797Leu)
|
rs1371471381
|
0.00003
|
NM_001267550.2(TTN):c.6953G>A (p.Arg2318His)
|
rs761566436
|
0.00003
|
NM_001267550.2(TTN):c.6995A>G (p.Asp2332Gly)
|
rs749655939
|
0.00003
|
NM_001267550.2(TTN):c.72232A>G (p.Ile24078Val)
|
rs876658080
|
0.00003
|
NM_001267550.2(TTN):c.72358C>T (p.Leu24120Phe)
|
rs372309164
|
0.00003
|
NM_001267550.2(TTN):c.72C>G (p.Thr24=)
|
rs876657615
|
0.00003
|
NM_001267550.2(TTN):c.73304G>A (p.Arg24435His)
|
rs794727456
|
0.00003
|
NM_001267550.2(TTN):c.73859C>T (p.Pro24620Leu)
|
rs370763285
|
0.00003
|
NM_001267550.2(TTN):c.74814T>A (p.Ser24938Arg)
|
rs747593205
|
0.00003
|
NM_001267550.2(TTN):c.76088G>A (p.Arg25363His)
|
rs749274818
|
0.00003
|
NM_001267550.2(TTN):c.76674T>C (p.Asp25558=)
|
rs375553630
|
0.00003
|
NM_001267550.2(TTN):c.77093T>G (p.Val25698Gly)
|
rs759278736
|
0.00003
|
NM_001267550.2(TTN):c.79281C>G (p.Asp26427Glu)
|
rs766994654
|
0.00003
|
NM_001267550.2(TTN):c.79481C>T (p.Ala26494Val)
|
rs368484949
|
0.00003
|
NM_001267550.2(TTN):c.79514C>T (p.Thr26505Ile)
|
rs886042786
|
0.00003
|
NM_001267550.2(TTN):c.84976C>T (p.Arg28326Trp)
|
rs749633038
|
0.00003
|
NM_001267550.2(TTN):c.86974T>C (p.Cys28992Arg)
|
rs769162510
|
0.00003
|
NM_001267550.2(TTN):c.87815A>G (p.Tyr29272Cys)
|
rs886039083
|
0.00003
|
NM_001267550.2(TTN):c.88787C>G (p.Thr29596Ser)
|
rs786205371
|
0.00003
|
NM_001267550.2(TTN):c.91520C>T (p.Pro30507Leu)
|
rs774107448
|
0.00003
|
NM_001267550.2(TTN):c.93392T>G (p.Val31131Gly)
|
rs1176407616
|
0.00003
|
NM_001267550.2(TTN):c.93886G>A (p.Val31296Ile)
|
rs794729534
|
0.00003
|
NM_001267550.2(TTN):c.93940G>A (p.Gly31314Ser)
|
rs368608059
|
0.00003
|
NM_001267550.2(TTN):c.95336T>C (p.Ile31779Thr)
|
rs1460359915
|
0.00003
|
NM_001267550.2(TTN):c.95566C>T (p.Arg31856Cys)
|
rs72648261
|
0.00003
|
NM_001267550.2(TTN):c.96198C>G (p.Ser32066Arg)
|
rs747323263
|
0.00003
|
NM_001267550.2(TTN):c.96434G>A (p.Arg32145His)
|
rs759948951
|
0.00003
|
NM_001267550.2(TTN):c.96644C>G (p.Thr32215Ser)
|
rs975713554
|
0.00003
|
NM_001267550.2(TTN):c.9679A>T (p.Ser3227Cys)
|
rs886042755
|
0.00003
|
NM_001267550.2(TTN):c.9683C>G (p.Ser3228Cys)
|
rs371249764
|
0.00003
|
NM_001267550.2(TTN):c.96934C>T (p.Pro32312Ser)
|
rs1024823449
|
0.00003
|
NM_001267550.2(TTN):c.9713C>T (p.Pro3238Leu)
|
rs397517792
|
0.00003
|
NM_001267550.2(TTN):c.98591T>C (p.Val32864Ala)
|
rs201257063
|
0.00003
|
NM_001267550.2(TTN):c.98954C>A (p.Pro32985His)
|
rs1387380794
|
0.00003
|
NM_001267550.2(TTN):c.99752A>G (p.Tyr33251Cys)
|
rs377456237
|
0.00003
|
NM_001289808.2(CRYAB):c.115C>G (p.Pro39Ala)
|
rs145768025
|
0.00003
|
NM_001289808.2(CRYAB):c.119C>T (p.Thr40Met)
|
rs782122417
|
0.00003
|
NM_001289808.2(CRYAB):c.65G>A (p.Arg22His)
|
rs782316391
|
0.00003
|
NM_001368067.1(LDB3):c.331A>G (p.Asn111Asp)
|
rs376900496
|
0.00003
|
NM_001368067.1(LDB3):c.817G>A (p.Gly273Ser)
|
rs771037817
|
0.00003
|
NM_001458.5(FLNC):c.1027A>G (p.Lys343Glu)
|
rs745495679
|
0.00003
|
NM_001458.5(FLNC):c.1211-5G>A
|
rs769599454
|
0.00003
|
NM_001458.5(FLNC):c.1471G>A (p.Val491Met)
|
rs770264114
|
0.00003
|
NM_001458.5(FLNC):c.1528A>C (p.Lys510Gln)
|
rs955475416
|
0.00003
|
NM_001458.5(FLNC):c.1649C>T (p.Thr550Met)
|
rs779802575
|
0.00003
|
NM_001458.5(FLNC):c.19T>G (p.Tyr7Asp)
|
rs896068048
|
0.00003
|
NM_001458.5(FLNC):c.2491G>A (p.Val831Ile)
|
rs746478952
|
0.00003
|
NM_001458.5(FLNC):c.2500A>G (p.Thr834Ala)
|
rs781169622
|
0.00003
|
NM_001458.5(FLNC):c.2811+6C>T
|
rs750718546
|
0.00003
|
NM_001458.5(FLNC):c.2845G>C (p.Asp949His)
|
rs761905908
|
0.00003
|
NM_001458.5(FLNC):c.3085A>G (p.Met1029Val)
|
rs369078760
|
0.00003
|
NM_001458.5(FLNC):c.3376C>G (p.Pro1126Ala)
|
rs748785077
|
0.00003
|
NM_001458.5(FLNC):c.3706C>T (p.Pro1236Ser)
|
rs747678267
|
0.00003
|
NM_001458.5(FLNC):c.3871C>T (p.Arg1291Cys)
|
rs753591663
|
0.00003
|
NM_001458.5(FLNC):c.4000G>A (p.Ala1334Thr)
|
rs556477946
|
0.00003
|
NM_001458.5(FLNC):c.4413A>T (p.Gln1471His)
|
rs765435961
|
0.00003
|
NM_001458.5(FLNC):c.4911C>G (p.Ser1637Arg)
|
rs1469272964
|
0.00003
|
NM_001458.5(FLNC):c.5377G>A (p.Val1793Met)
|
rs587780337
|
0.00003
|
NM_001458.5(FLNC):c.550G>A (p.Asp184Asn)
|
rs1215344798
|
0.00003
|
NM_001458.5(FLNC):c.5984G>A (p.Arg1995His)
|
rs371508414
|
0.00003
|
NM_001458.5(FLNC):c.6595G>A (p.Gly2199Arg)
|
rs368977589
|
0.00003
|
NM_001458.5(FLNC):c.6711C>G (p.Ile2237Met)
|
rs781708543
|
0.00003
|
NM_001458.5(FLNC):c.7564G>A (p.Val2522Met)
|
rs780917403
|
0.00003
|
NM_001458.5(FLNC):c.7823C>T (p.Thr2608Met)
|
rs1175931652
|
0.00003
|
NM_001458.5(FLNC):c.7948G>A (p.Val2650Met)
|
rs372172779
|
0.00003
|
NM_001458.5(FLNC):c.8059A>G (p.Met2687Val)
|
rs369110441
|
0.00003
|
NM_001458.5(FLNC):c.898G>A (p.Val300Met)
|
rs765885585
|
0.00003
|
NM_001458.5(FLNC):c.919G>A (p.Val307Met)
|
rs763968152
|
0.00003
|
NM_006790.3(MYOT):c.-286C>G
|
rs1281967239
|
0.00003
|
NM_006790.3(MYOT):c.1132C>G (p.Pro378Ala)
|
rs1489391510
|
0.00003
|
NM_006790.3(MYOT):c.1201G>T (p.Asp401Tyr)
|
rs372167756
|
0.00003
|
NM_006790.3(MYOT):c.17G>A (p.Arg6His)
|
rs387906882
|
0.00003
|
NM_006790.3(MYOT):c.182A>C (p.His61Pro)
|
rs372276337
|
0.00003
|
NM_006790.3(MYOT):c.449T>C (p.Ile150Thr)
|
rs1163332539
|
0.00003
|
NM_006790.3(MYOT):c.758T>C (p.Ile253Thr)
|
rs201113539
|
0.00003
|
NM_006790.3(MYOT):c.817-11T>C
|
rs377759571
|
0.00003
|
NM_007078.3(LDB3):c.1165G>A (p.Ala389Thr)
|
rs924634578
|
0.00003
|
NM_007078.3(LDB3):c.1453G>T (p.Ala485Ser)
|
rs397517214
|
0.00003
|
NM_007078.3(LDB3):c.160G>A (p.Gly54Ser)
|
rs201786090
|
0.00003
|
NM_007078.3(LDB3):c.1640G>A (p.Arg547Gln)
|
rs201968826
|
0.00003
|
NM_007078.3(LDB3):c.1789T>A (p.Tyr597Asn)
|
rs727503131
|
0.00003
|
NM_007078.3(LDB3):c.2050G>A (p.Glu684Lys)
|
rs754552434
|
0.00003
|
NM_007078.3(LDB3):c.398C>T (p.Pro133Leu)
|
rs200239096
|
0.00003
|
NM_007078.3(LDB3):c.428G>A (p.Ser143Asn)
|
rs201773873
|
0.00003
|
NM_007078.3(LDB3):c.724G>A (p.Ala242Thr)
|
rs759790522
|
0.00003
|
NM_007078.3(LDB3):c.897-6664G>A
|
rs376355443
|
0.00003
|
NM_007078.3(LDB3):c.897-6909G>A
|
rs532856980
|
0.00003
|
NM_007078.3(LDB3):c.905T>C (p.Ile302Thr)
|
rs777489502
|
0.00003
|
NM_018834.6(MATR3):c.*1239A>G
|
rs746298588
|
0.00003
|
NM_018834.6(MATR3):c.*2171C>T
|
rs886060004
|
0.00003
|
NM_018834.6(MATR3):c.*2222G>T
|
rs886060005
|
0.00003
|
NM_018834.6(MATR3):c.*587A>G
|
rs535027907
|
0.00003
|
NM_018834.6(MATR3):c.*770A>G
|
rs886059996
|
0.00003
|
NM_018834.6(MATR3):c.2135A>G (p.Lys712Arg)
|
rs750375963
|
0.00003
|
NM_018834.6(MATR3):c.2273C>A (p.Thr758Lys)
|
rs757346695
|
0.00003
|
NM_018834.6(MATR3):c.2282A>G (p.Asn761Ser)
|
rs758675030
|
0.00003
|
NM_018834.6(MATR3):c.379C>T (p.Arg127Cys)
|
rs768516057
|
0.00003
|
NM_022173.4(TIA1):c.1141G>A (p.Ala381Thr)
|
rs768554955
|
0.00003
|
NM_022173.4(TIA1):c.770A>T (p.Asn257Ile)
|
rs765028674
|
0.00003
|
NM_033337.3(CAV3):c.*592G>A
|
rs187370461
|
0.00003
|
NM_033337.3(CAV3):c.433G>A (p.Val145Met)
|
rs142475018
|
0.00003
|
NM_133379.5(TTN):c.10649G>A (p.Arg3550Gln)
|
rs189154521
|
0.00003
|
NM_133379.5(TTN):c.14113C>T (p.Arg4705Ter)
|
rs755956493
|
0.00003
|
NM_133379.5(TTN):c.14911A>G (p.Ile4971Val)
|
rs727504687
|
0.00003
|
NM_133379.5(TTN):c.15488G>A (p.Arg5163His)
|
rs150492317
|
0.00003
|
NM_133379.5(TTN):c.15652C>T (p.Arg5218Ter)
|
rs1450038140
|
0.00003
|
NM_133379.5(TTN):c.16003G>A (p.Glu5335Lys)
|
rs1485174648
|
0.00003
|
NM_133379.5(TTN):c.16321C>T (p.Arg5441Ter)
|
rs201273719
|
0.00003
|
NM_001267550.2(TTN):c.*919G>C
|
rs752604042
|
0.00002
|
NM_001267550.2(TTN):c.10000G>A (p.Val3334Met)
|
rs886055299
|
0.00002
|
NM_001267550.2(TTN):c.100117G>A (p.Gly33373Ser)
|
rs55880786
|
0.00002
|
NM_001267550.2(TTN):c.10024G>A (p.Val3342Ile)
|
rs727503679
|
0.00002
|
NM_001267550.2(TTN):c.101027G>A (p.Gly33676Glu)
|
rs368894429
|
0.00002
|
NM_001267550.2(TTN):c.10164G>T (p.Arg3388=)
|
rs542799064
|
0.00002
|
NM_001267550.2(TTN):c.102030T>G (p.Ser34010Arg)
|
rs1296387134
|
0.00002
|
NM_001267550.2(TTN):c.102238G>C (p.Val34080Leu)
|
rs1467698015
|
0.00002
|
NM_001267550.2(TTN):c.102284A>C (p.His34095Pro)
|
rs1437743604
|
0.00002
|
NM_001267550.2(TTN):c.103939T>C (p.Tyr34647His)
|
rs561869617
|
0.00002
|
NM_001267550.2(TTN):c.104245C>T (p.Arg34749Trp)
|
rs962181882
|
0.00002
|
NM_001267550.2(TTN):c.104648G>A (p.Arg34883His)
|
rs368063908
|
0.00002
|
NM_001267550.2(TTN):c.104986G>T (p.Val34996Phe)
|
rs772718460
|
0.00002
|
NM_001267550.2(TTN):c.105625A>C (p.Lys35209Gln)
|
rs56365812
|
0.00002
|
NM_001267550.2(TTN):c.106828A>G (p.Lys35610Glu)
|
rs753984036
|
0.00002
|
NM_001267550.2(TTN):c.107339G>A (p.Arg35780His)
|
rs770904787
|
0.00002
|
NM_001267550.2(TTN):c.107869A>T (p.Ile35957Phe)
|
rs950902715
|
0.00002
|
NM_001267550.2(TTN):c.11567A>G (p.Asn3856Ser)
|
rs765523683
|
0.00002
|
NM_001267550.2(TTN):c.12208G>A (p.Glu4070Lys)
|
rs397517830
|
0.00002
|
NM_001267550.2(TTN):c.14306A>T (p.Glu4769Val)
|
rs763092484
|
0.00002
|
NM_001267550.2(TTN):c.14536G>A (p.Ala4846Thr)
|
rs752150323
|
0.00002
|
NM_001267550.2(TTN):c.14624C>G (p.Ala4875Gly)
|
rs369989679
|
0.00002
|
NM_001267550.2(TTN):c.15775+15A>C
|
rs776801864
|
0.00002
|
NM_001267550.2(TTN):c.15940A>G (p.Asn5314Asp)
|
rs371044267
|
0.00002
|
NM_001267550.2(TTN):c.16370G>T (p.Gly5457Val)
|
rs879144126
|
0.00002
|
NM_001267550.2(TTN):c.1694C>T (p.Ser565Phe)
|
rs762175397
|
0.00002
|
NM_001267550.2(TTN):c.18374T>C (p.Phe6125Ser)
|
rs375003845
|
0.00002
|
NM_001267550.2(TTN):c.18427G>A (p.Gly6143Arg)
|
rs757453585
|
0.00002
|
NM_001267550.2(TTN):c.20680G>C (p.Val6894Leu)
|
rs774362265
|
0.00002
|
NM_001267550.2(TTN):c.21800G>A (p.Gly7267Asp)
|
rs375627540
|
0.00002
|
NM_001267550.2(TTN):c.2306T>C (p.Ile769Thr)
|
rs979110143
|
0.00002
|
NM_001267550.2(TTN):c.23391C>T (p.Phe7797=)
|
rs754815317
|
0.00002
|
NM_001267550.2(TTN):c.24928T>A (p.Tyr8310Asn)
|
rs397517511
|
0.00002
|
NM_001267550.2(TTN):c.26200G>A (p.Ala8734Thr)
|
rs727503646
|
0.00002
|
NM_001267550.2(TTN):c.26744C>G (p.Ala8915Gly)
|
rs536974988
|
0.00002
|
NM_001267550.2(TTN):c.26985C>A (p.Asp8995Glu)
|
rs781351100
|
0.00002
|
NM_001267550.2(TTN):c.27724G>T (p.Asp9242Tyr)
|
rs746470885
|
0.00002
|
NM_001267550.2(TTN):c.28099C>T (p.Leu9367Phe)
|
rs748483786
|
0.00002
|
NM_001267550.2(TTN):c.28594A>G (p.Ile9532Val)
|
rs770782767
|
0.00002
|
NM_001267550.2(TTN):c.28744G>A (p.Val9582Ile)
|
rs537805395
|
0.00002
|
NM_001267550.2(TTN):c.29429T>C (p.Ile9810Thr)
|
rs781737736
|
0.00002
|
NM_001267550.2(TTN):c.30248G>A (p.Arg10083His)
|
rs759347532
|
0.00002
|
NM_001267550.2(TTN):c.31181T>C (p.Ile10394Thr)
|
rs1219872673
|
0.00002
|
NM_001267550.2(TTN):c.3380+12G>T
|
rs775071824
|
0.00002
|
NM_001267550.2(TTN):c.343G>A (p.Val115Met)
|
rs564777385
|
0.00002
|
NM_001267550.2(TTN):c.34721T>C (p.Ile11574Thr)
|
rs368157806
|
0.00002
|
NM_001267550.2(TTN):c.34925C>T (p.Ala11642Val)
|
rs375391365
|
0.00002
|
NM_001267550.2(TTN):c.35330T>C (p.Ile11777Thr)
|
rs1393138345
|
0.00002
|
NM_001267550.2(TTN):c.35351G>A (p.Arg11784His)
|
rs756874306
|
0.00002
|
NM_001267550.2(TTN):c.36142G>C (p.Val12048Leu)
|
rs768872042
|
0.00002
|
NM_001267550.2(TTN):c.36448G>T (p.Val12150Leu)
|
rs371317962
|
0.00002
|
NM_001267550.2(TTN):c.39673C>T (p.Pro13225Ser)
|
rs202240398
|
0.00002
|
NM_001267550.2(TTN):c.4072G>T (p.Asp1358Tyr)
|
rs373988162
|
0.00002
|
NM_001267550.2(TTN):c.45725G>A (p.Arg15242Lys)
|
rs140795503
|
0.00002
|
NM_001267550.2(TTN):c.46373G>A (p.Cys15458Tyr)
|
rs377564388
|
0.00002
|
NM_001267550.2(TTN):c.46631G>A (p.Arg15544His)
|
rs772760901
|
0.00002
|
NM_001267550.2(TTN):c.48346G>A (p.Val16116Ile)
|
rs367769671
|
0.00002
|
NM_001267550.2(TTN):c.50151G>C (p.Glu16717Asp)
|
rs369623681
|
0.00002
|
NM_001267550.2(TTN):c.50399A>C (p.Lys16800Thr)
|
rs959185764
|
0.00002
|
NM_001267550.2(TTN):c.50531T>C (p.Leu16844Pro)
|
rs764983586
|
0.00002
|
NM_001267550.2(TTN):c.52142T>C (p.Ile17381Thr)
|
rs775637498
|
0.00002
|
NM_001267550.2(TTN):c.52788T>A (p.Asn17596Lys)
|
rs375966756
|
0.00002
|
NM_001267550.2(TTN):c.52880G>A (p.Arg17627His)
|
rs536494011
|
0.00002
|
NM_001267550.2(TTN):c.53881+3G>A
|
rs1160974431
|
0.00002
|
NM_001267550.2(TTN):c.54142T>C (p.Ser18048Pro)
|
rs878999356
|
0.00002
|
NM_001267550.2(TTN):c.5503C>A (p.Gln1835Lys)
|
rs537070177
|
0.00002
|
NM_001267550.2(TTN):c.58992T>A (p.Asp19664Glu)
|
rs769129424
|
0.00002
|
NM_001267550.2(TTN):c.60242A>G (p.Asp20081Gly)
|
rs369680191
|
0.00002
|
NM_001267550.2(TTN):c.60623T>C (p.Ile20208Thr)
|
rs752768925
|
0.00002
|
NM_001267550.2(TTN):c.60815C>T (p.Pro20272Leu)
|
rs760277470
|
0.00002
|
NM_001267550.2(TTN):c.62314G>A (p.Asp20772Asn)
|
rs878925775
|
0.00002
|
NM_001267550.2(TTN):c.6304G>T (p.Val2102Leu)
|
rs767322897
|
0.00002
|
NM_001267550.2(TTN):c.64111A>G (p.Arg21371Gly)
|
rs748901968
|
0.00002
|
NM_001267550.2(TTN):c.6414A>G (p.Ile2138Met)
|
rs368391123
|
0.00002
|
NM_001267550.2(TTN):c.64687C>G (p.Pro21563Ala)
|
rs72646860
|
0.00002
|
NM_001267550.2(TTN):c.6491C>T (p.Ala2164Val)
|
rs1338410239
|
0.00002
|
NM_001267550.2(TTN):c.67318G>A (p.Gly22440Ser)
|
rs727503576
|
0.00002
|
NM_001267550.2(TTN):c.67487A>G (p.Lys22496Arg)
|
rs397517669
|
0.00002
|
NM_001267550.2(TTN):c.67496G>A (p.Arg22499Gln)
|
rs767993624
|
0.00002
|
NM_001267550.2(TTN):c.67685C>A (p.Ala22562Asp)
|
rs776797528
|
0.00002
|
NM_001267550.2(TTN):c.67792A>C (p.Ser22598Arg)
|
rs775579156
|
0.00002
|
NM_001267550.2(TTN):c.6895T>C (p.Trp2299Arg)
|
rs145585333
|
0.00002
|
NM_001267550.2(TTN):c.6923C>A (p.Ser2308Tyr)
|
rs577966527
|
0.00002
|
NM_001267550.2(TTN):c.732C>T (p.Ala244=)
|
rs761859812
|
0.00002
|
NM_001267550.2(TTN):c.73426G>A (p.Glu24476Lys)
|
rs760487688
|
0.00002
|
NM_001267550.2(TTN):c.74549A>G (p.Asp24850Gly)
|
rs573415766
|
0.00002
|
NM_001267550.2(TTN):c.75977A>G (p.Glu25326Gly)
|
rs767430531
|
0.00002
|
NM_001267550.2(TTN):c.77902G>A (p.Glu25968Lys)
|
rs756933390
|
0.00002
|
NM_001267550.2(TTN):c.78662C>T (p.Pro26221Leu)
|
rs912454417
|
0.00002
|
NM_001267550.2(TTN):c.79103G>T (p.Gly26368Val)
|
rs371325635
|
0.00002
|
NM_001267550.2(TTN):c.79487T>C (p.Ile26496Thr)
|
rs749600987
|
0.00002
|
NM_001267550.2(TTN):c.80717G>A (p.Arg26906Gln)
|
rs536183519
|
0.00002
|
NM_001267550.2(TTN):c.80774G>A (p.Arg26925Lys)
|
rs748215561
|
0.00002
|
NM_001267550.2(TTN):c.82582C>T (p.Arg27528Trp)
|
rs749852593
|
0.00002
|
NM_001267550.2(TTN):c.84405T>C (p.Tyr28135=)
|
rs756176112
|
0.00002
|
NM_001267550.2(TTN):c.84998C>T (p.Ala28333Val)
|
rs886042586
|
0.00002
|
NM_001267550.2(TTN):c.85315C>T (p.Arg28439Trp)
|
rs757653038
|
0.00002
|
NM_001267550.2(TTN):c.85477A>G (p.Thr28493Ala)
|
rs369907507
|
0.00002
|
NM_001267550.2(TTN):c.85846C>T (p.Arg28616Trp)
|
rs754025981
|
0.00002
|
NM_001267550.2(TTN):c.86701C>T (p.Arg28901Cys)
|
rs757848764
|
0.00002
|
NM_001267550.2(TTN):c.88406C>T (p.Ala29469Val)
|
rs397517740
|
0.00002
|
NM_001267550.2(TTN):c.88826G>A (p.Arg29609Gln)
|
rs758876816
|
0.00002
|
NM_001267550.2(TTN):c.88946C>T (p.Ser29649Leu)
|
rs764695663
|
0.00002
|
NM_001267550.2(TTN):c.88955T>C (p.Val29652Ala)
|
rs748609330
|
0.00002
|
NM_001267550.2(TTN):c.8902C>T (p.Pro2968Ser)
|
rs773875566
|
0.00002
|
NM_001267550.2(TTN):c.89965A>G (p.Ser29989Gly)
|
rs1225946550
|
0.00002
|
NM_001267550.2(TTN):c.91304C>T (p.Thr30435Ile)
|
rs1060500591
|
0.00002
|
NM_001267550.2(TTN):c.91306C>T (p.Arg30436Trp)
|
rs773600127
|
0.00002
|
NM_001267550.2(TTN):c.92454C>T (p.Pro30818=)
|
rs771773845
|
0.00002
|
NM_001267550.2(TTN):c.92666G>A (p.Gly30889Asp)
|
rs727505280
|
0.00002
|
NM_001267550.2(TTN):c.93167G>A (p.Arg31056Gln)
|
rs201377736
|
0.00002
|
NM_001267550.2(TTN):c.94711G>A (p.Val31571Met)
|
rs140081451
|
0.00002
|
NM_001267550.2(TTN):c.94828G>A (p.Ala31610Thr)
|
rs141357723
|
0.00002
|
NM_001267550.2(TTN):c.95415C>A (p.Phe31805Leu)
|
rs587780983
|
0.00002
|
NM_001267550.2(TTN):c.95873G>A (p.Arg31958Gln)
|
rs763270971
|
0.00002
|
NM_001267550.2(TTN):c.95953G>A (p.Val31985Ile)
|
rs373484878
|
0.00002
|
NM_001267550.2(TTN):c.9656C>A (p.Thr3219Asn)
|
rs1385851793
|
0.00002
|
NM_001267550.2(TTN):c.9769C>A (p.Arg3257Ser)
|
rs374521620
|
0.00002
|
NM_001267550.2(TTN):c.99254G>A (p.Arg33085His)
|
rs777035261
|
0.00002
|
NM_001267550.2(TTN):c.99415A>G (p.Lys33139Glu)
|
rs779723670
|
0.00002
|
NM_001368067.1(LDB3):c.361C>T (p.Arg121Cys)
|
rs750606592
|
0.00002
|
NM_001368067.1(LDB3):c.410C>T (p.Pro137Leu)
|
rs938329394
|
0.00002
|
NM_001368067.1(LDB3):c.456G>A (p.Ala152=)
|
rs371708921
|
0.00002
|
NM_001368067.1(LDB3):c.788G>A (p.Arg263His)
|
rs780518038
|
0.00002
|
NM_001458.5(FLNC):c.1001G>A (p.Arg334His)
|
rs779347920
|
0.00002
|
NM_001458.5(FLNC):c.1208C>T (p.Ala403Val)
|
rs777199447
|
0.00002
|
NM_001458.5(FLNC):c.1209G>A (p.Ala403=)
|
rs746938160
|
0.00002
|
NM_001458.5(FLNC):c.1309C>T (p.Arg437Cys)
|
rs374847180
|
0.00002
|
NM_001458.5(FLNC):c.1724G>A (p.Arg575Gln)
|
rs764751276
|
0.00002
|
NM_001458.5(FLNC):c.176A>G (p.Asp59Gly)
|
rs1164296903
|
0.00002
|
NM_001458.5(FLNC):c.1798G>A (p.Glu600Lys)
|
rs760911646
|
0.00002
|
NM_001458.5(FLNC):c.1981G>A (p.Ala661Thr)
|
rs1480694554
|
0.00002
|
NM_001458.5(FLNC):c.2311G>A (p.Gly771Ser)
|
rs1031265089
|
0.00002
|
NM_001458.5(FLNC):c.2389+19G>T
|
rs1359230020
|
0.00002
|
NM_001458.5(FLNC):c.2389+5G>A
|
rs901857994
|
0.00002
|
NM_001458.5(FLNC):c.2518C>T (p.Arg840Cys)
|
rs373514748
|
0.00002
|
NM_001458.5(FLNC):c.2560G>A (p.Ala854Thr)
|
rs749855792
|
0.00002
|
NM_001458.5(FLNC):c.3001G>A (p.Val1001Met)
|
rs1037999644
|
0.00002
|
NM_001458.5(FLNC):c.3005G>A (p.Arg1002Gln)
|
rs202039743
|
0.00002
|
NM_001458.5(FLNC):c.3022C>T (p.Arg1008Cys)
|
rs757969015
|
0.00002
|
NM_001458.5(FLNC):c.3062C>T (p.Ala1021Val)
|
rs574118437
|
0.00002
|
NM_001458.5(FLNC):c.3079C>T (p.Arg1027Cys)
|
rs541775814
|
0.00002
|
NM_001458.5(FLNC):c.3295G>A (p.Val1099Ile)
|
rs759452636
|
0.00002
|
NM_001458.5(FLNC):c.3407C>T (p.Ala1136Val)
|
rs762793681
|
0.00002
|
NM_001458.5(FLNC):c.3488C>T (p.Pro1163Leu)
|
rs377489161
|
0.00002
|
NM_001458.5(FLNC):c.3499C>T (p.Arg1167Cys)
|
rs766439553
|
0.00002
|
NM_001458.5(FLNC):c.3595A>G (p.Lys1199Glu)
|
rs753260970
|
0.00002
|
NM_001458.5(FLNC):c.3781G>A (p.Glu1261Lys)
|
rs747033771
|
0.00002
|
NM_001458.5(FLNC):c.4073C>G (p.Pro1358Arg)
|
rs769586047
|
0.00002
|
NM_001458.5(FLNC):c.4270G>A (p.Gly1424Arg)
|
rs1202331272
|
0.00002
|
NM_001458.5(FLNC):c.4457G>T (p.Gly1486Val)
|
rs767473791
|
0.00002
|
NM_001458.5(FLNC):c.449A>G (p.Asp150Gly)
|
rs760711912
|
0.00002
|
NM_001458.5(FLNC):c.44G>T (p.Gly15Val)
|
rs766081127
|
0.00002
|
NM_001458.5(FLNC):c.4699C>T (p.Arg1567Trp)
|
rs369842920
|
0.00002
|
NM_001458.5(FLNC):c.4705G>A (p.Ala1569Thr)
|
rs768737324
|
0.00002
|
NM_001458.5(FLNC):c.4772G>A (p.Arg1591Gln)
|
rs755741955
|
0.00002
|
NM_001458.5(FLNC):c.479C>T (p.Thr160Met)
|
rs1357772572
|
0.00002
|
NM_001458.5(FLNC):c.5165G>C (p.Gly1722Ala)
|
rs775405275
|
0.00002
|
NM_001458.5(FLNC):c.5278G>A (p.Gly1760Ser)
|
rs150986092
|
0.00002
|
NM_001458.5(FLNC):c.5668+4A>C
|
rs1259876470
|
0.00002
|
NM_001458.5(FLNC):c.6004+6C>T
|
rs761548420
|
0.00002
|
NM_001458.5(FLNC):c.6041T>C (p.Val2014Ala)
|
rs765064363
|
0.00002
|
NM_001458.5(FLNC):c.6053G>A (p.Arg2018His)
|
rs764326184
|
0.00002
|
NM_001458.5(FLNC):c.6121G>C (p.Ala2041Pro)
|
rs745842738
|
0.00002
|
NM_001458.5(FLNC):c.6209-3C>G
|
rs896971028
|
0.00002
|
NM_001458.5(FLNC):c.6283A>G (p.Thr2095Ala)
|
rs373022507
|
0.00002
|
NM_001458.5(FLNC):c.6325A>G (p.Ile2109Val)
|
rs755736125
|
0.00002
|
NM_001458.5(FLNC):c.6419G>A (p.Arg2140Gln)
|
rs368662317
|
0.00002
|
NM_001458.5(FLNC):c.6593G>A (p.Gly2198Asp)
|
rs909093665
|
0.00002
|
NM_001458.5(FLNC):c.6727+3G>A
|
rs771664894
|
0.00002
|
NM_001458.5(FLNC):c.7228C>T (p.Arg2410Cys)
|
rs750686083
|
0.00002
|
NM_001458.5(FLNC):c.7251+4T>G
|
rs1389522053
|
0.00002
|
NM_001458.5(FLNC):c.7310G>A (p.Arg2437Gln)
|
rs201762568
|
0.00002
|
NM_001458.5(FLNC):c.7382G>A (p.Ser2461Asn)
|
rs550547714
|
0.00002
|
NM_001458.5(FLNC):c.7529C>T (p.Ala2510Val)
|
rs1809086035
|
0.00002
|
NM_001458.5(FLNC):c.7589C>A (p.Thr2530Asn)
|
rs766492460
|
0.00002
|
NM_001458.5(FLNC):c.7651G>C (p.Asp2551His)
|
rs1187923021
|
0.00002
|
NM_001458.5(FLNC):c.7658G>A (p.Arg2553Gln)
|
rs375213102
|
0.00002
|
NM_001458.5(FLNC):c.7666C>T (p.Pro2556Ser)
|
rs765967888
|
0.00002
|
NM_001458.5(FLNC):c.7784C>T (p.Pro2595Leu)
|
rs756144972
|
0.00002
|
NM_001458.5(FLNC):c.7972G>A (p.Val2658Met)
|
rs1269145751
|
0.00002
|
NM_001458.5(FLNC):c.874G>A (p.Val292Met)
|
rs1275499234
|
0.00002
|
NM_006790.3(MYOT):c.1457T>C (p.Leu486Ser)
|
rs372307298
|
0.00002
|
NM_006790.3(MYOT):c.1481A>C (p.Glu494Ala)
|
rs781052225
|
0.00002
|
NM_006790.3(MYOT):c.1497A>T (p.Ter499Tyr)
|
rs779978043
|
0.00002
|
NM_006790.3(MYOT):c.335T>A (p.Ile112Asn)
|
rs752723849
|
0.00002
|
NM_006790.3(MYOT):c.385A>G (p.Ile129Val)
|
rs1191595067
|
0.00002
|
NM_006790.3(MYOT):c.529C>G (p.Gln177Glu)
|
rs140135928
|
0.00002
|
NM_006790.3(MYOT):c.762A>C (p.Gln254His)
|
rs983379755
|
0.00002
|
NM_006790.3(MYOT):c.782T>C (p.Ile261Thr)
|
rs764439615
|
0.00002
|
NM_007078.3(LDB3):c.1001C>A (p.Pro334Gln)
|
rs776058652
|
0.00002
|
NM_007078.3(LDB3):c.1256C>A (p.Ser419Tyr)
|
rs368888118
|
0.00002
|
NM_007078.3(LDB3):c.1321C>T (p.Pro441Ser)
|
rs757728320
|
0.00002
|
NM_007078.3(LDB3):c.1381T>G (p.Tyr461Asp)
|
rs145655904
|
0.00002
|
NM_007078.3(LDB3):c.1382A>C (p.Tyr461Ser)
|
rs774224466
|
0.00002
|
NM_007078.3(LDB3):c.1435G>A (p.Gly479Arg)
|
rs370521488
|
0.00002
|
NM_007078.3(LDB3):c.1520C>A (p.Thr507Asn)
|
rs150188572
|
0.00002
|
NM_007078.3(LDB3):c.1546C>T (p.Arg516Trp)
|
rs773327911
|
0.00002
|
NM_007078.3(LDB3):c.155T>C (p.Ile52Thr)
|
rs1449865053
|
0.00002
|
NM_007078.3(LDB3):c.1639C>T (p.Arg547Trp)
|
rs374426474
|
0.00002
|
NM_007078.3(LDB3):c.1657C>A (p.His553Asn)
|
rs1488010574
|
0.00002
|
NM_007078.3(LDB3):c.1696A>G (p.Met566Val)
|
rs775232208
|
0.00002
|
NM_007078.3(LDB3):c.1703G>A (p.Arg568His)
|
rs769156627
|
0.00002
|
NM_007078.3(LDB3):c.1745C>G (p.Thr582Ser)
|
rs754840310
|
0.00002
|
NM_007078.3(LDB3):c.1774G>C (p.Glu592Gln)
|
rs727504944
|
0.00002
|
NM_007078.3(LDB3):c.2074G>A (p.Asp692Asn)
|
rs754529329
|
0.00002
|
NM_007078.3(LDB3):c.338C>T (p.Thr113Met)
|
rs563714303
|
0.00002
|
NM_007078.3(LDB3):c.356C>T (p.Ala119Val)
|
rs397517223
|
0.00002
|
NM_007078.3(LDB3):c.47G>A (p.Arg16His)
|
rs767986134
|
0.00002
|
NM_007078.3(LDB3):c.491C>T (p.Pro164Leu)
|
rs761907380
|
0.00002
|
NM_007078.3(LDB3):c.494G>A (p.Arg165Gln)
|
rs61857115
|
0.00002
|
NM_007078.3(LDB3):c.608C>T (p.Ser203Leu)
|
rs201538257
|
0.00002
|
NM_007078.3(LDB3):c.646A>T (p.Met216Leu)
|
rs765199175
|
0.00002
|
NM_007078.3(LDB3):c.656G>A (p.Arg219Gln)
|
rs530979771
|
0.00002
|
NM_007078.3(LDB3):c.733G>A (p.Val245Ile)
|
rs573061464
|
0.00002
|
NM_007078.3(LDB3):c.818G>A (p.Arg273His)
|
rs763481542
|
0.00002
|
NM_007078.3(LDB3):c.897-6831C>T
|
rs886047355
|
0.00002
|
NM_018834.6(MATR3):c.*1143G>A
|
rs1357784533
|
0.00002
|
NM_018834.6(MATR3):c.*2170T>G
|
rs1403800962
|
0.00002
|
NM_018834.6(MATR3):c.*262A>G
|
rs1378690022
|
0.00002
|
NM_018834.6(MATR3):c.1366A>G (p.Thr456Ala)
|
rs748098389
|
0.00002
|
NM_018834.6(MATR3):c.2038G>A (p.Asp680Asn)
|
rs752161415
|
0.00002
|
NM_018834.6(MATR3):c.2114G>T (p.Ser705Ile)
|
rs201970174
|
0.00002
|
NM_018834.6(MATR3):c.2128G>A (p.Ala710Thr)
|
rs1314919388
|
0.00002
|
NM_018834.6(MATR3):c.2242T>C (p.Ser748Pro)
|
rs772562504
|
0.00002
|
NM_018834.6(MATR3):c.2251G>A (p.Ala751Thr)
|
rs774158046
|
0.00002
|
NM_018834.6(MATR3):c.2525G>C (p.Arg842Thr)
|
rs749235364
|
0.00002
|
NM_018834.6(MATR3):c.620G>A (p.Arg207His)
|
rs749335257
|
0.00002
|
NM_022173.4(TIA1):c.1085C>T (p.Pro362Leu)
|
rs757332023
|
0.00002
|
NM_022173.4(TIA1):c.1157A>C (p.Gln386Pro)
|
rs199700349
|
0.00002
|
NM_033337.3(CAV3):c.*441T>C
|
rs1161338634
|
0.00002
|
NM_033337.3(CAV3):c.401C>T (p.Ala134Val)
|
rs201267913
|
0.00002
|
NM_133379.5(TTN):c.11179A>G (p.Ile3727Val)
|
rs142723709
|
0.00002
|
NM_133379.5(TTN):c.12332C>T (p.Thr4111Ile)
|
rs370317019
|
0.00002
|
NM_133379.5(TTN):c.13444A>G (p.Ile4482Val)
|
rs149169686
|
0.00002
|
NM_133379.5(TTN):c.14062G>A (p.Val4688Met)
|
rs1476964512
|
0.00002
|
NM_001145809.2(MYH14):c.1462G>T (p.Ala488Ser)
|
rs887619644
|
0.00001
|
NM_001145809.2(MYH14):c.2347C>T (p.Arg783Trp)
|
rs747057989
|
0.00001
|
NM_001145809.2(MYH14):c.2900C>T (p.Thr967Met)
|
rs142134135
|
0.00001
|
NM_001145809.2(MYH14):c.3141C>T (p.Leu1047=)
|
rs886054592
|
0.00001
|
NM_001145809.2(MYH14):c.4761G>A (p.Glu1587=)
|
rs2035993400
|
0.00001
|
NM_001145809.2(MYH14):c.5875C>T (p.Arg1959Trp)
|
rs758424787
|
0.00001
|
NM_001267550.2(TTN):c.*183A>G
|
rs534998626
|
0.00001
|
NM_001267550.2(TTN):c.*504G>A
|
rs957184446
|
0.00001
|
NM_001267550.2(TTN):c.*633C>T
|
rs1242028803
|
0.00001
|
NM_001267550.2(TTN):c.-217G>A
|
rs886055311
|
0.00001
|
NM_001267550.2(TTN):c.100373T>C (p.Ile33458Thr)
|
rs72648283
|
0.00001
|
NM_001267550.2(TTN):c.100429G>C (p.Glu33477Gln)
|
rs794729556
|
0.00001
|
NM_001267550.2(TTN):c.10070C>T (p.Ser3357Phe)
|
rs886042377
|
0.00001
|
NM_001267550.2(TTN):c.101380G>A (p.Glu33794Lys)
|
rs1484936368
|
0.00001
|
NM_001267550.2(TTN):c.101529G>C (p.Lys33843Asn)
|
rs377406091
|
0.00001
|
NM_001267550.2(TTN):c.101573T>A (p.Val33858Asp)
|
rs1172459056
|
0.00001
|
NM_001267550.2(TTN):c.101875G>A (p.Glu33959Lys)
|
rs886055224
|
0.00001
|
NM_001267550.2(TTN):c.102842T>C (p.Ile34281Thr)
|
rs779369864
|
0.00001
|
NM_001267550.2(TTN):c.102928G>A (p.Glu34310Lys)
|
rs768930172
|
0.00001
|
NM_001267550.2(TTN):c.102992A>G (p.Tyr34331Cys)
|
rs765213170
|
0.00001
|
NM_001267550.2(TTN):c.103177A>C (p.Thr34393Pro)
|
rs947426325
|
0.00001
|
NM_001267550.2(TTN):c.103178C>T (p.Thr34393Ile)
|
rs372299779
|
0.00001
|
NM_001267550.2(TTN):c.103216G>A (p.Gly34406Arg)
|
rs371753532
|
0.00001
|
NM_001267550.2(TTN):c.103432G>A (p.Asp34478Asn)
|
rs878913368
|
0.00001
|
NM_001267550.2(TTN):c.103730A>G (p.Gln34577Arg)
|
rs727505009
|
0.00001
|
NM_001267550.2(TTN):c.103787G>A (p.Arg34596His)
|
rs762235688
|
0.00001
|
NM_001267550.2(TTN):c.104005G>A (p.Asp34669Asn)
|
rs1430662349
|
0.00001
|
NM_001267550.2(TTN):c.104062G>C (p.Glu34688Gln)
|
rs775049806
|
0.00001
|
NM_001267550.2(TTN):c.104158G>A (p.Glu34720Lys)
|
rs773467994
|
0.00001
|
NM_001267550.2(TTN):c.104194C>G (p.His34732Asp)
|
rs753769495
|
0.00001
|
NM_001267550.2(TTN):c.104267G>C (p.Arg34756Thr)
|
rs1344770836
|
0.00001
|
NM_001267550.2(TTN):c.104328A>C (p.Pro34776=)
|
rs1575245592
|
0.00001
|
NM_001267550.2(TTN):c.104564C>A (p.Ser34855Tyr)
|
rs886055222
|
0.00001
|
NM_001267550.2(TTN):c.104582G>A (p.Arg34861His)
|
rs777774818
|
0.00001
|
NM_001267550.2(TTN):c.104933A>G (p.Asn34978Ser)
|
rs780028847
|
0.00001
|
NM_001267550.2(TTN):c.105038G>A (p.Arg35013His)
|
rs779484675
|
0.00001
|
NM_001267550.2(TTN):c.105083C>T (p.Thr35028Met)
|
rs56001826
|
0.00001
|
NM_001267550.2(TTN):c.105086T>G (p.Leu35029Trp)
|
rs763437247
|
0.00001
|
NM_001267550.2(TTN):c.105643A>C (p.Thr35215Pro)
|
rs769195414
|
0.00001
|
NM_001267550.2(TTN):c.105802G>A (p.Glu35268Lys)
|
rs1010179080
|
0.00001
|
NM_001267550.2(TTN):c.106154A>C (p.Lys35385Thr)
|
rs768296130
|
0.00001
|
NM_001267550.2(TTN):c.106258C>T (p.Pro35420Ser)
|
rs567191587
|
0.00001
|
NM_001267550.2(TTN):c.106403T>A (p.Leu35468His)
|
rs952475900
|
0.00001
|
NM_001267550.2(TTN):c.106769A>G (p.His35590Arg)
|
rs375572802
|
0.00001
|
NM_001267550.2(TTN):c.106906G>A (p.Val35636Met)
|
rs751243461
|
0.00001
|
NM_001267550.2(TTN):c.107528T>C (p.Met35843Thr)
|
rs760758096
|
0.00001
|
NM_001267550.2(TTN):c.107723T>C (p.Ile35908Thr)
|
rs769141222
|
0.00001
|
NM_001267550.2(TTN):c.107783T>A (p.Val35928Glu)
|
rs763109620
|
0.00001
|
NM_001267550.2(TTN):c.107858T>G (p.Leu35953Arg)
|
rs794729572
|
0.00001
|
NM_001267550.2(TTN):c.11027C>T (p.Thr3676Met)
|
rs1437975298
|
0.00001
|
NM_001267550.2(TTN):c.11282T>C (p.Ile3761Thr)
|
rs758073208
|
0.00001
|
NM_001267550.2(TTN):c.1165A>G (p.Ser389Gly)
|
rs1255499093
|
0.00001
|
NM_001267550.2(TTN):c.11684G>A (p.Ser3895Asn)
|
rs769466475
|
0.00001
|
NM_001267550.2(TTN):c.11984C>T (p.Thr3995Ile)
|
rs749320093
|
0.00001
|
NM_001267550.2(TTN):c.12175G>T (p.Gly4059Cys)
|
rs377114166
|
0.00001
|
NM_001267550.2(TTN):c.12416A>G (p.His4139Arg)
|
rs72648920
|
0.00001
|
NM_001267550.2(TTN):c.12572T>C (p.Ile4191Thr)
|
rs371669309
|
0.00001
|
NM_001267550.2(TTN):c.1307C>T (p.Ala436Val)
|
rs781488193
|
0.00001
|
NM_001267550.2(TTN):c.13205C>T (p.Ala4402Val)
|
rs756976503
|
0.00001
|
NM_001267550.2(TTN):c.13724A>G (p.Glu4575Gly)
|
rs564287456
|
0.00001
|
NM_001267550.2(TTN):c.13883C>T (p.Ser4628Phe)
|
rs794729602
|
0.00001
|
NM_001267550.2(TTN):c.13940A>G (p.Asp4647Gly)
|
rs781348816
|
0.00001
|
NM_001267550.2(TTN):c.14018G>A (p.Gly4673Glu)
|
rs374361492
|
0.00001
|
NM_001267550.2(TTN):c.14092+5G>A
|
rs757575983
|
0.00001
|
NM_001267550.2(TTN):c.1446C>T (p.Ala482=)
|
rs183258737
|
0.00001
|
NM_001267550.2(TTN):c.14782C>T (p.Leu4928Phe)
|
rs758924238
|
0.00001
|
NM_001267550.2(TTN):c.1537-2A>G
|
rs749182164
|
0.00001
|
NM_001267550.2(TTN):c.15499C>A (p.Pro5167Thr)
|
rs1031284707
|
0.00001
|
NM_001267550.2(TTN):c.15797G>A (p.Arg5266Gln)
|
rs749816144
|
0.00001
|
NM_001267550.2(TTN):c.15877A>C (p.Lys5293Gln)
|
rs930814645
|
0.00001
|
NM_001267550.2(TTN):c.16096G>A (p.Val5366Met)
|
rs372176136
|
0.00001
|
NM_001267550.2(TTN):c.16709C>T (p.Thr5570Ile)
|
rs535319438
|
0.00001
|
NM_001267550.2(TTN):c.16743T>C (p.Asp5581=)
|
rs754798297
|
0.00001
|
NM_001267550.2(TTN):c.17328A>G (p.Ile5776Met)
|
rs928844023
|
0.00001
|
NM_001267550.2(TTN):c.17375T>C (p.Ile5792Thr)
|
rs1225094303
|
0.00001
|
NM_001267550.2(TTN):c.17376T>G (p.Ile5792Met)
|
rs1041967765
|
0.00001
|
NM_001267550.2(TTN):c.17645T>C (p.Ile5882Thr)
|
rs763665430
|
0.00001
|
NM_001267550.2(TTN):c.17669G>C (p.Ser5890Thr)
|
rs775293848
|
0.00001
|
NM_001267550.2(TTN):c.17807T>C (p.Ile5936Thr)
|
rs1365679296
|
0.00001
|
NM_001267550.2(TTN):c.17C>T (p.Pro6Leu)
|
rs201490999
|
0.00001
|
NM_001267550.2(TTN):c.18589G>C (p.Glu6197Gln)
|
rs753281535
|
0.00001
|
NM_001267550.2(TTN):c.19447T>C (p.Phe6483Leu)
|
rs373750655
|
0.00001
|
NM_001267550.2(TTN):c.19497T>C (p.His6499=)
|
rs1223390157
|
0.00001
|
NM_001267550.2(TTN):c.19715-3T>C
|
rs2079629592
|
0.00001
|
NM_001267550.2(TTN):c.19970G>T (p.Cys6657Phe)
|
rs776748717
|
0.00001
|
NM_001267550.2(TTN):c.202C>T (p.Pro68Ser)
|
rs876658046
|
0.00001
|
NM_001267550.2(TTN):c.20317C>T (p.Leu6773Phe)
|
rs189557659
|
0.00001
|
NM_001267550.2(TTN):c.20395C>T (p.Arg6799Trp)
|
rs751534449
|
0.00001
|
NM_001267550.2(TTN):c.20579T>C (p.Leu6860Pro)
|
rs767944090
|
0.00001
|
NM_001267550.2(TTN):c.20869A>T (p.Met6957Leu)
|
rs375262781
|
0.00001
|
NM_001267550.2(TTN):c.20873C>T (p.Thr6958Met)
|
rs371824963
|
0.00001
|
NM_001267550.2(TTN):c.20891C>T (p.Thr6964Met)
|
rs765257439
|
0.00001
|
NM_001267550.2(TTN):c.20986T>C (p.Phe6996Leu)
|
rs753725329
|
0.00001
|
NM_001267550.2(TTN):c.21118C>T (p.Arg7040Ter)
|
rs576359448
|
0.00001
|
NM_001267550.2(TTN):c.21143G>A (p.Arg7048Gln)
|
rs148072021
|
0.00001
|
NM_001267550.2(TTN):c.21172G>C (p.Gly7058Arg)
|
rs786205401
|
0.00001
|
NM_001267550.2(TTN):c.21227C>T (p.Ala7076Val)
|
rs374625641
|
0.00001
|
NM_001267550.2(TTN):c.21273A>G (p.Gln7091=)
|
rs878903172
|
0.00001
|
NM_001267550.2(TTN):c.21667C>T (p.Arg7223Cys)
|
rs1156609638
|
0.00001
|
NM_001267550.2(TTN):c.21892G>A (p.Gly7298Arg)
|
rs878854292
|
0.00001
|
NM_001267550.2(TTN):c.21956C>T (p.Thr7319Ile)
|
rs876658043
|
0.00001
|
NM_001267550.2(TTN):c.21981G>T (p.Thr7327=)
|
rs775230627
|
0.00001
|
NM_001267550.2(TTN):c.22240+14A>G
|
rs1288832655
|
0.00001
|
NM_001267550.2(TTN):c.22339C>T (p.Pro7447Ser)
|
rs749750693
|
0.00001
|
NM_001267550.2(TTN):c.2254C>T (p.Arg752Cys)
|
rs200677631
|
0.00001
|
NM_001267550.2(TTN):c.22633C>T (p.Arg7545Ter)
|
rs764687326
|
0.00001
|
NM_001267550.2(TTN):c.22673G>T (p.Gly7558Val)
|
rs886055294
|
0.00001
|
NM_001267550.2(TTN):c.2275G>A (p.Val759Ile)
|
rs769333723
|
0.00001
|
NM_001267550.2(TTN):c.23567G>A (p.Gly7856Glu)
|
rs919783694
|
0.00001
|
NM_001267550.2(TTN):c.23669G>T (p.Arg7890Ile)
|
rs370939248
|
0.00001
|
NM_001267550.2(TTN):c.23686G>A (p.Glu7896Lys)
|
rs786205400
|
0.00001
|
NM_001267550.2(TTN):c.2371-1G>A
|
rs755365744
|
0.00001
|
NM_001267550.2(TTN):c.23725G>C (p.Glu7909Gln)
|
rs1161435142
|
0.00001
|
NM_001267550.2(TTN):c.23747C>G (p.Pro7916Arg)
|
rs764130233
|
0.00001
|
NM_001267550.2(TTN):c.24013G>C (p.Glu8005Gln)
|
rs757042397
|
0.00001
|
NM_001267550.2(TTN):c.24038C>T (p.Pro8013Leu)
|
rs773761640
|
0.00001
|
NM_001267550.2(TTN):c.24322A>G (p.Lys8108Glu)
|
rs776437978
|
0.00001
|
NM_001267550.2(TTN):c.24613A>G (p.Ile8205Val)
|
rs747306219
|
0.00001
|
NM_001267550.2(TTN):c.24839C>T (p.Pro8280Leu)
|
rs375219172
|
0.00001
|
NM_001267550.2(TTN):c.24914G>A (p.Arg8305Gln)
|
rs759985618
|
0.00001
|
NM_001267550.2(TTN):c.2494-5T>C
|
rs370759512
|
0.00001
|
NM_001267550.2(TTN):c.2535G>T (p.Glu845Asp)
|
rs768608500
|
0.00001
|
NM_001267550.2(TTN):c.25453A>G (p.Ile8485Val)
|
rs1560628327
|
0.00001
|
NM_001267550.2(TTN):c.25640-4A>G
|
rs886055292
|
0.00001
|
NM_001267550.2(TTN):c.26200+5G>A
|
rs727503645
|
0.00001
|
NM_001267550.2(TTN):c.26830G>A (p.Val8944Ile)
|
rs72648993
|
0.00001
|
NM_001267550.2(TTN):c.26882A>G (p.His8961Arg)
|
rs766862084
|
0.00001
|
NM_001267550.2(TTN):c.27074C>T (p.Pro9025Leu)
|
rs1203714029
|
0.00001
|
NM_001267550.2(TTN):c.27619T>G (p.Phe9207Val)
|
rs765453217
|
0.00001
|
NM_001267550.2(TTN):c.27743C>A (p.Thr9248Asn)
|
rs397517523
|
0.00001
|
NM_001267550.2(TTN):c.27746C>T (p.Thr9249Met)
|
rs745792278
|
0.00001
|
NM_001267550.2(TTN):c.27747G>A (p.Thr9249=)
|
rs778970711
|
0.00001
|
NM_001267550.2(TTN):c.27994G>A (p.Val9332Met)
|
rs367734747
|
0.00001
|
NM_001267550.2(TTN):c.28321G>A (p.Gly9441Arg)
|
rs397517529
|
0.00001
|
NM_001267550.2(TTN):c.28877C>A (p.Ala9626Asp)
|
rs397517530
|
0.00001
|
NM_001267550.2(TTN):c.29333G>A (p.Gly9778Asp)
|
rs775854531
|
0.00001
|
NM_001267550.2(TTN):c.295+5G>A
|
rs56310717
|
0.00001
|
NM_001267550.2(TTN):c.29519G>A (p.Arg9840His)
|
rs558220856
|
0.00001
|
NM_001267550.2(TTN):c.29931A>C (p.Pro9977=)
|
rs781508217
|
0.00001
|
NM_001267550.2(TTN):c.30196G>C (p.Glu10066Gln)
|
rs370072382
|
0.00001
|
NM_001267550.2(TTN):c.3027C>A (p.Asp1009Glu)
|
rs794729523
|
0.00001
|
NM_001267550.2(TTN):c.30511+1G>C
|
rs879082842
|
0.00001
|
NM_001267550.2(TTN):c.30893C>T (p.Ala10298Val)
|
rs727504902
|
0.00001
|
NM_001267550.2(TTN):c.31010A>G (p.Tyr10337Cys)
|
rs886055287
|
0.00001
|
NM_001267550.2(TTN):c.31274T>C (p.Ile10425Thr)
|
rs1198546466
|
0.00001
|
NM_001267550.2(TTN):c.31710G>C (p.Glu10570Asp)
|
rs1338646609
|
0.00001
|
NM_001267550.2(TTN):c.31764C>T (p.Val10588=)
|
rs766441395
|
0.00001
|
NM_001267550.2(TTN):c.31865G>A (p.Gly10622Glu)
|
rs2071793480
|
0.00001
|
NM_001267550.2(TTN):c.32011+15T>G
|
rs886055285
|
0.00001
|
NM_001267550.2(TTN):c.3205C>G (p.Leu1069Val)
|
rs759873829
|
0.00001
|
NM_001267550.2(TTN):c.32090C>T (p.Pro10697Leu)
|
rs573756163
|
0.00001
|
NM_001267550.2(TTN):c.32392G>A (p.Val10798Met)
|
rs764015733
|
0.00001
|
NM_001267550.2(TTN):c.32470G>T (p.Val10824Phe)
|
rs753951400
|
0.00001
|
NM_001267550.2(TTN):c.32471-1G>A
|
rs371725574
|
0.00001
|
NM_001267550.2(TTN):c.32858C>T (p.Ala10953Val)
|
rs773225325
|
0.00001
|
NM_001267550.2(TTN):c.32881A>G (p.Ile10961Val)
|
rs886055284
|
0.00001
|
NM_001267550.2(TTN):c.32936A>C (p.Glu10979Ala)
|
rs776641064
|
0.00001
|
NM_001267550.2(TTN):c.32974T>C (p.Tyr10992His)
|
rs769393540
|
0.00001
|
NM_001267550.2(TTN):c.33248-8C>G
|
rs766957102
|
0.00001
|
NM_001267550.2(TTN):c.33418+1G>A
|
rs746588865
|
0.00001
|
NM_001267550.2(TTN):c.33419-2A>C
|
rs756841034
|
0.00001
|
NM_001267550.2(TTN):c.33601C>A (p.Pro11201Thr)
|
rs769195017
|
0.00001
|
NM_001267550.2(TTN):c.33791C>T (p.Pro11264Leu)
|
rs1336824666
|
0.00001
|
NM_001267550.2(TTN):c.33890T>A (p.Val11297Glu)
|
rs768802752
|
0.00001
|
NM_001267550.2(TTN):c.34062A>G (p.Glu11354=)
|
rs886055281
|
0.00001
|
NM_001267550.2(TTN):c.3410G>A (p.Gly1137Asp)
|
rs864309575
|
0.00001
|
NM_001267550.2(TTN):c.34247A>T (p.Glu11416Val)
|
rs886055280
|
0.00001
|
NM_001267550.2(TTN):c.34435G>C (p.Glu11479Gln)
|
rs1298237270
|
0.00001
|
NM_001267550.2(TTN):c.34570C>T (p.Arg11524Ter)
|
rs1441434215
|
0.00001
|
NM_001267550.2(TTN):c.34820T>C (p.Val11607Ala)
|
rs371203499
|
0.00001
|
NM_001267550.2(TTN):c.36365-7T>C
|
rs746341489
|
0.00001
|
NM_001267550.2(TTN):c.3729+4A>G
|
rs1170576212
|
0.00001
|
NM_001267550.2(TTN):c.38002A>G (p.Thr12668Ala)
|
rs1168512202
|
0.00001
|
NM_001267550.2(TTN):c.38353A>G (p.Lys12785Glu)
|
rs864622709
|
0.00001
|
NM_001267550.2(TTN):c.3868G>A (p.Glu1290Lys)
|
rs748755381
|
0.00001
|
NM_001267550.2(TTN):c.39001C>A (p.Pro13001Thr)
|
rs878854302
|
0.00001
|
NM_001267550.2(TTN):c.39284C>A (p.Pro13095His)
|
rs770419196
|
0.00001
|
NM_001267550.2(TTN):c.39465G>A (p.Val13155=)
|
rs886055279
|
0.00001
|
NM_001267550.2(TTN):c.39553G>A (p.Glu13185Lys)
|
rs758150185
|
0.00001
|
NM_001267550.2(TTN):c.39709+7G>A
|
rs750763722
|
0.00001
|
NM_001267550.2(TTN):c.39766A>G (p.Lys13256Glu)
|
rs762177160
|
0.00001
|
NM_001267550.2(TTN):c.39835A>G (p.Lys13279Glu)
|
rs2062656094
|
0.00001
|
NM_001267550.2(TTN):c.39883C>A (p.Pro13295Thr)
|
rs749860520
|
0.00001
|
NM_001267550.2(TTN):c.40222+6T>C
|
rs1182693405
|
0.00001
|
NM_001267550.2(TTN):c.4031A>G (p.Asp1344Gly)
|
rs1203373476
|
0.00001
|
NM_001267550.2(TTN):c.40408+7_40408+10dup
|
rs397517560
|
0.00001
|
NM_001267550.2(TTN):c.40514C>T (p.Pro13505Leu)
|
rs371714559
|
0.00001
|
NM_001267550.2(TTN):c.40558+4T>C
|
rs398124451
|
0.00001
|
NM_001267550.2(TTN):c.40595T>G (p.Val13532Gly)
|
rs756446770
|
0.00001
|
NM_001267550.2(TTN):c.40701G>A (p.Arg13567=)
|
rs750761966
|
0.00001
|
NM_001267550.2(TTN):c.40837G>A (p.Ala13613Thr)
|
rs750346508
|
0.00001
|
NM_001267550.2(TTN):c.41104T>C (p.Ser13702Pro)
|
rs72650078
|
0.00001
|
NM_001267550.2(TTN):c.41180G>A (p.Arg13727His)
|
rs750520224
|
0.00001
|
NM_001267550.2(TTN):c.4169C>T (p.Pro1390Leu)
|
rs144011561
|
0.00001
|
NM_001267550.2(TTN):c.41888G>A (p.Arg13963His)
|
rs540582993
|
0.00001
|
NM_001267550.2(TTN):c.42256T>A (p.Ser14086Thr)
|
rs777451130
|
0.00001
|
NM_001267550.2(TTN):c.42401G>A (p.Arg14134Gln)
|
rs764083952
|
0.00001
|
NM_001267550.2(TTN):c.42829A>T (p.Ile14277Phe)
|
rs397517568
|
0.00001
|
NM_001267550.2(TTN):c.42979G>A (p.Gly14327Arg)
|
rs375403946
|
0.00001
|
NM_001267550.2(TTN):c.43100T>C (p.Ile14367Thr)
|
rs397517572
|
0.00001
|
NM_001267550.2(TTN):c.4310T>A (p.Met1437Lys)
|
rs1018666766
|
0.00001
|
NM_001267550.2(TTN):c.44096C>G (p.Ser14699Cys)
|
rs1293270234
|
0.00001
|
NM_001267550.2(TTN):c.44285G>A (p.Arg14762Gln)
|
rs727505019
|
0.00001
|
NM_001267550.2(TTN):c.44419G>A (p.Asp14807Asn)
|
rs753053245
|
0.00001
|
NM_001267550.2(TTN):c.44425G>A (p.Val14809Met)
|
rs775225695
|
0.00001
|
NM_001267550.2(TTN):c.44870A>G (p.Glu14957Gly)
|
rs796961766
|
0.00001
|
NM_001267550.2(TTN):c.45653G>A (p.Arg15218Gln)
|
rs548035065
|
0.00001
|
NM_001267550.2(TTN):c.45893A>G (p.Glu15298Gly)
|
rs886055274
|
0.00001
|
NM_001267550.2(TTN):c.46369G>A (p.Glu15457Lys)
|
rs753664074
|
0.00001
|
NM_001267550.2(TTN):c.46771T>C (p.Tyr15591His)
|
rs775496863
|
0.00001
|
NM_001267550.2(TTN):c.4700T>C (p.Ile1567Thr)
|
rs145957227
|
0.00001
|
NM_001267550.2(TTN):c.4784T>G (p.Ile1595Ser)
|
rs1012905833
|
0.00001
|
NM_001267550.2(TTN):c.47875+6T>C
|
rs780524253
|
0.00001
|
NM_001267550.2(TTN):c.47892T>G (p.Asp15964Glu)
|
rs727503623
|
0.00001
|
NM_001267550.2(TTN):c.48054C>T (p.Ala16018=)
|
rs779940754
|
0.00001
|
NM_001267550.2(TTN):c.48152A>G (p.Asn16051Ser)
|
rs534426018
|
0.00001
|
NM_001267550.2(TTN):c.4874C>G (p.Ser1625Cys)
|
rs185789611
|
0.00001
|
NM_001267550.2(TTN):c.49379C>G (p.Ser16460Cys)
|
rs397517596
|
0.00001
|
NM_001267550.2(TTN):c.49396G>A (p.Ala16466Thr)
|
rs755998484
|
0.00001
|
NM_001267550.2(TTN):c.49770G>C (p.Met16590Ile)
|
rs774495753
|
0.00001
|
NM_001267550.2(TTN):c.4995G>A (p.Gly1665=)
|
rs755324231
|
0.00001
|
NM_001267550.2(TTN):c.5000A>G (p.Tyr1667Cys)
|
rs140494897
|
0.00001
|
NM_001267550.2(TTN):c.50348T>C (p.Ile16783Thr)
|
rs950940404
|
0.00001
|
NM_001267550.2(TTN):c.50538T>C (p.Ile16846=)
|
rs763711863
|
0.00001
|
NM_001267550.2(TTN):c.51012G>T (p.Lys17004Asn)
|
rs755153359
|
0.00001
|
NM_001267550.2(TTN):c.51355T>G (p.Phe17119Val)
|
rs370696020
|
0.00001
|
NM_001267550.2(TTN):c.51377A>G (p.Lys17126Arg)
|
rs757728544
|
0.00001
|
NM_001267550.2(TTN):c.51449C>T (p.Pro17150Leu)
|
rs764792715
|
0.00001
|
NM_001267550.2(TTN):c.51579G>C (p.Arg17193Ser)
|
rs759285989
|
0.00001
|
NM_001267550.2(TTN):c.51625G>A (p.Ala17209Thr)
|
rs1292930837
|
0.00001
|
NM_001267550.2(TTN):c.51649G>A (p.Glu17217Lys)
|
rs1060500503
|
0.00001
|
NM_001267550.2(TTN):c.51823C>T (p.Pro17275Ser)
|
rs752852690
|
0.00001
|
NM_001267550.2(TTN):c.52032T>C (p.His17344=)
|
rs374254751
|
0.00001
|
NM_001267550.2(TTN):c.52067G>A (p.Gly17356Asp)
|
rs759091835
|
0.00001
|
NM_001267550.2(TTN):c.52526G>A (p.Arg17509His)
|
rs886055267
|
0.00001
|
NM_001267550.2(TTN):c.52553G>A (p.Arg17518His)
|
rs559590585
|
0.00001
|
NM_001267550.2(TTN):c.52948G>A (p.Ala17650Thr)
|
rs535008556
|
0.00001
|
NM_001267550.2(TTN):c.53149C>T (p.Arg17717Cys)
|
rs369001587
|
0.00001
|
NM_001267550.2(TTN):c.53207G>A (p.Arg17736Gln)
|
rs766817830
|
0.00001
|
NM_001267550.2(TTN):c.53569G>A (p.Val17857Ile)
|
rs1423994048
|
0.00001
|
NM_001267550.2(TTN):c.53707C>T (p.Arg17903Cys)
|
rs1016726284
|
0.00001
|
NM_001267550.2(TTN):c.53708G>A (p.Arg17903His)
|
rs755252821
|
0.00001
|
NM_001267550.2(TTN):c.53785G>A (p.Glu17929Lys)
|
rs201052994
|
0.00001
|
NM_001267550.2(TTN):c.54193C>T (p.Arg18065Cys)
|
rs369438623
|
0.00001
|
NM_001267550.2(TTN):c.54632C>G (p.Pro18211Arg)
|
rs764772164
|
0.00001
|
NM_001267550.2(TTN):c.54704G>A (p.Arg18235His)
|
rs750125113
|
0.00001
|
NM_001267550.2(TTN):c.54741G>A (p.Met18247Ile)
|
rs368858337
|
0.00001
|
NM_001267550.2(TTN):c.54854C>T (p.Thr18285Met)
|
rs761825854
|
0.00001
|
NM_001267550.2(TTN):c.54883C>T (p.Pro18295Ser)
|
rs1162176452
|
0.00001
|
NM_001267550.2(TTN):c.55195C>T (p.Pro18399Ser)
|
rs774591174
|
0.00001
|
NM_001267550.2(TTN):c.55270-3T>C
|
rs749109513
|
0.00001
|
NM_001267550.2(TTN):c.55432+5G>C
|
rs754717390
|
0.00001
|
NM_001267550.2(TTN):c.55727C>T (p.Pro18576Leu)
|
rs1362095957
|
0.00001
|
NM_001267550.2(TTN):c.55880A>C (p.Lys18627Thr)
|
rs727503597
|
0.00001
|
NM_001267550.2(TTN):c.56213T>G (p.Val18738Gly)
|
rs777956655
|
0.00001
|
NM_001267550.2(TTN):c.5633G>A (p.Gly1878Glu)
|
rs745311218
|
0.00001
|
NM_001267550.2(TTN):c.56362C>T (p.Pro18788Ser)
|
rs1363268909
|
0.00001
|
NM_001267550.2(TTN):c.56433T>C (p.Asp18811=)
|
rs771353550
|
0.00001
|
NM_001267550.2(TTN):c.56524T>C (p.Cys18842Arg)
|
rs371437953
|
0.00001
|
NM_001267550.2(TTN):c.56632G>A (p.Ala18878Thr)
|
rs886042564
|
0.00001
|
NM_001267550.2(TTN):c.56674A>C (p.Thr18892Pro)
|
rs780258242
|
0.00001
|
NM_001267550.2(TTN):c.57070A>G (p.Ile19024Val)
|
rs876658068
|
0.00001
|
NM_001267550.2(TTN):c.57262G>T (p.Val19088Phe)
|
rs727505347
|
0.00001
|
NM_001267550.2(TTN):c.57387T>A (p.Asn19129Lys)
|
rs375305621
|
0.00001
|
NM_001267550.2(TTN):c.57519G>T (p.Lys19173Asn)
|
rs1009412718
|
0.00001
|
NM_001267550.2(TTN):c.57832A>G (p.Ile19278Val)
|
rs56025724
|
0.00001
|
NM_001267550.2(TTN):c.5810C>G (p.Ser1937Cys)
|
rs747895202
|
0.00001
|
NM_001267550.2(TTN):c.58371C>T (p.Tyr19457=)
|
rs749167827
|
0.00001
|
NM_001267550.2(TTN):c.5851G>A (p.Val1951Ile)
|
rs765382880
|
0.00001
|
NM_001267550.2(TTN):c.58561G>A (p.Glu19521Lys)
|
rs746319976
|
0.00001
|
NM_001267550.2(TTN):c.58858A>G (p.Thr19620Ala)
|
rs1215190215
|
0.00001
|
NM_001267550.2(TTN):c.59711A>G (p.Asp19904Gly)
|
rs1016296280
|
0.00001
|
NM_001267550.2(TTN):c.59912C>T (p.Ala19971Val)
|
rs886055258
|
0.00001
|
NM_001267550.2(TTN):c.60033A>C (p.Gly20011=)
|
rs761455000
|
0.00001
|
NM_001267550.2(TTN):c.60266T>C (p.Val20089Ala)
|
rs886039085
|
0.00001
|
NM_001267550.2(TTN):c.60302T>C (p.Ile20101Thr)
|
rs777610858
|
0.00001
|
NM_001267550.2(TTN):c.6039T>G (p.Ile2013Met)
|
rs727504208
|
0.00001
|
NM_001267550.2(TTN):c.60653C>T (p.Thr20218Met)
|
rs375155937
|
0.00001
|
NM_001267550.2(TTN):c.60707T>G (p.Leu20236Arg)
|
rs778953994
|
0.00001
|
NM_001267550.2(TTN):c.60944G>A (p.Gly20315Asp)
|
rs765839032
|
0.00001
|
NM_001267550.2(TTN):c.61048C>T (p.Leu20350Phe)
|
rs1162158537
|
0.00001
|
NM_001267550.2(TTN):c.61488T>G (p.Ile20496Met)
|
rs886042497
|
0.00001
|
NM_001267550.2(TTN):c.61706G>A (p.Arg20569Lys)
|
rs371014957
|
0.00001
|
NM_001267550.2(TTN):c.62306C>A (p.Pro20769Gln)
|
rs772498581
|
0.00001
|
NM_001267550.2(TTN):c.6250A>G (p.Ile2084Val)
|
rs369388581
|
0.00001
|
NM_001267550.2(TTN):c.62602G>A (p.Val20868Met)
|
rs371004819
|
0.00001
|
NM_001267550.2(TTN):c.62644A>G (p.Thr20882Ala)
|
rs538308579
|
0.00001
|
NM_001267550.2(TTN):c.62896C>T (p.Arg20966Cys)
|
rs767887086
|
0.00001
|
NM_001267550.2(TTN):c.63131T>C (p.Ile21044Thr)
|
rs529879601
|
0.00001
|
NM_001267550.2(TTN):c.6314C>G (p.Pro2105Arg)
|
rs547169244
|
0.00001
|
NM_001267550.2(TTN):c.63187+5G>T
|
rs1292388582
|
0.00001
|
NM_001267550.2(TTN):c.63527T>C (p.Leu21176Ser)
|
rs72646854
|
0.00001
|
NM_001267550.2(TTN):c.63941C>T (p.Ser21314Leu)
|
rs776468606
|
0.00001
|
NM_001267550.2(TTN):c.64001A>G (p.Asn21334Ser)
|
rs753121509
|
0.00001
|
NM_001267550.2(TTN):c.64025C>G (p.Ala21342Gly)
|
rs1218513536
|
0.00001
|
NM_001267550.2(TTN):c.64454G>A (p.Arg21485Gln)
|
rs746903647
|
0.00001
|
NM_001267550.2(TTN):c.64493G>A (p.Cys21498Tyr)
|
rs752724337
|
0.00001
|
NM_001267550.2(TTN):c.64826C>T (p.Thr21609Met)
|
rs765913263
|
0.00001
|
NM_001267550.2(TTN):c.64973-12C>G
|
rs918265990
|
0.00001
|
NM_001267550.2(TTN):c.65022C>T (p.Asp21674=)
|
rs866763453
|
0.00001
|
NM_001267550.2(TTN):c.65168G>A (p.Gly21723Asp)
|
rs371802736
|
0.00001
|
NM_001267550.2(TTN):c.65369T>C (p.Ile21790Thr)
|
rs727503580
|
0.00001
|
NM_001267550.2(TTN):c.66200T>C (p.Ile22067Thr)
|
rs368042545
|
0.00001
|
NM_001267550.2(TTN):c.66479C>T (p.Pro22160Leu)
|
rs777364605
|
0.00001
|
NM_001267550.2(TTN):c.66545A>G (p.Tyr22182Cys)
|
rs879016147
|
0.00001
|
NM_001267550.2(TTN):c.66669G>A (p.Met22223Ile)
|
rs1049450842
|
0.00001
|
NM_001267550.2(TTN):c.66736G>A (p.Val22246Met)
|
rs1393150545
|
0.00001
|
NM_001267550.2(TTN):c.67051G>T (p.Val22351Leu)
|
rs764048936
|
0.00001
|
NM_001267550.2(TTN):c.67063C>T (p.Pro22355Ser)
|
rs794729481
|
0.00001
|
NM_001267550.2(TTN):c.67226C>T (p.Ser22409Phe)
|
rs1296710770
|
0.00001
|
NM_001267550.2(TTN):c.67328G>A (p.Arg22443His)
|
rs1389670032
|
0.00001
|
NM_001267550.2(TTN):c.68078C>T (p.Thr22693Met)
|
rs758700425
|
0.00001
|
NM_001267550.2(TTN):c.68285T>C (p.Leu22762Pro)
|
rs1359881893
|
0.00001
|
NM_001267550.2(TTN):c.68635G>A (p.Glu22879Lys)
|
rs373765319
|
0.00001
|
NM_001267550.2(TTN):c.68984A>C (p.Gln22995Pro)
|
rs879410317
|
0.00001
|
NM_001267550.2(TTN):c.69379C>G (p.Gln23127Glu)
|
rs953796748
|
0.00001
|
NM_001267550.2(TTN):c.69458A>C (p.Lys23153Thr)
|
rs879119970
|
0.00001
|
NM_001267550.2(TTN):c.69959A>G (p.Asn23320Ser)
|
rs756468956
|
0.00001
|
NM_001267550.2(TTN):c.70006G>A (p.Val23336Ile)
|
rs781015638
|
0.00001
|
NM_001267550.2(TTN):c.70111C>T (p.Arg23371Cys)
|
rs56141309
|
0.00001
|
NM_001267550.2(TTN):c.70166C>G (p.Ala23389Gly)
|
rs1194442496
|
0.00001
|
NM_001267550.2(TTN):c.70181C>T (p.Thr23394Met)
|
rs397517683
|
0.00001
|
NM_001267550.2(TTN):c.70243A>C (p.Met23415Leu)
|
rs200029470
|
0.00001
|
NM_001267550.2(TTN):c.70391G>T (p.Gly23464Val)
|
rs549938348
|
0.00001
|
NM_001267550.2(TTN):c.70753G>A (p.Val23585Met)
|
rs754040141
|
0.00001
|
NM_001267550.2(TTN):c.70784T>C (p.Leu23595Pro)
|
rs886055249
|
0.00001
|
NM_001267550.2(TTN):c.70964T>C (p.Ile23655Thr)
|
rs794729488
|
0.00001
|
NM_001267550.2(TTN):c.71553T>A (p.Leu23851=)
|
rs373388052
|
0.00001
|
NM_001267550.2(TTN):c.7156G>A (p.Gly2386Ser)
|
rs777101912
|
0.00001
|
NM_001267550.2(TTN):c.71624C>A (p.Thr23875Asn)
|
rs771783837
|
0.00001
|
NM_001267550.2(TTN):c.71908C>T (p.Arg23970Trp)
|
rs748041610
|
0.00001
|
NM_001267550.2(TTN):c.72317A>C (p.Asn24106Thr)
|
rs1386956312
|
0.00001
|
NM_001267550.2(TTN):c.72394G>A (p.Val24132Ile)
|
rs727504188
|
0.00001
|
NM_001267550.2(TTN):c.72487C>T (p.Arg24163Cys)
|
rs778284888
|
0.00001
|
NM_001267550.2(TTN):c.73024A>G (p.Ile24342Val)
|
rs1051443527
|
0.00001
|
NM_001267550.2(TTN):c.73124C>T (p.Pro24375Leu)
|
rs376041680
|
0.00001
|
NM_001267550.2(TTN):c.73888A>G (p.Arg24630Gly)
|
rs573355547
|
0.00001
|
NM_001267550.2(TTN):c.7399A>G (p.Lys2467Glu)
|
rs1362423521
|
0.00001
|
NM_001267550.2(TTN):c.74063G>A (p.Arg24688His)
|
rs376988498
|
0.00001
|
NM_001267550.2(TTN):c.74224C>T (p.Arg24742Cys)
|
rs369489704
|
0.00001
|
NM_001267550.2(TTN):c.74339G>A (p.Arg24780Gln)
|
rs776673912
|
0.00001
|
NM_001267550.2(TTN):c.74981C>T (p.Pro24994Leu)
|
rs531281558
|
0.00001
|
NM_001267550.2(TTN):c.75053T>C (p.Val25018Ala)
|
rs745832906
|
0.00001
|
NM_001267550.2(TTN):c.7517G>A (p.Arg2506Gln)
|
rs758719859
|
0.00001
|
NM_001267550.2(TTN):c.75329G>A (p.Arg25110Gln)
|
rs757674072
|
0.00001
|
NM_001267550.2(TTN):c.7534G>A (p.Glu2512Lys)
|
rs116049561
|
0.00001
|
NM_001267550.2(TTN):c.75366G>A (p.Val25122=)
|
rs750424357
|
0.00001
|
NM_001267550.2(TTN):c.75378T>A (p.Gly25126=)
|
rs886055246
|
0.00001
|
NM_001267550.2(TTN):c.75816C>T (p.Gly25272=)
|
rs770708534
|
0.00001
|
NM_001267550.2(TTN):c.75982C>A (p.Pro25328Thr)
|
rs201776072
|
0.00001
|
NM_001267550.2(TTN):c.75983C>T (p.Pro25328Leu)
|
rs758581188
|
0.00001
|
NM_001267550.2(TTN):c.76556T>C (p.Ile25519Thr)
|
rs376185524
|
0.00001
|
NM_001267550.2(TTN):c.7682T>C (p.Ile2561Thr)
|
rs747031357
|
0.00001
|
NM_001267550.2(TTN):c.76949C>A (p.Ala25650Asp)
|
rs886042780
|
0.00001
|
NM_001267550.2(TTN):c.76962C>G (p.Asn25654Lys)
|
rs755800765
|
0.00001
|
NM_001267550.2(TTN):c.77329A>G (p.Lys25777Glu)
|
rs778484596
|
0.00001
|
NM_001267550.2(TTN):c.77561C>T (p.Thr25854Ile)
|
rs886055245
|
0.00001
|
NM_001267550.2(TTN):c.77639C>T (p.Thr25880Ile)
|
rs1332594097
|
0.00001
|
NM_001267550.2(TTN):c.7781T>C (p.Met2594Thr)
|
rs764016233
|
0.00001
|
NM_001267550.2(TTN):c.77984G>A (p.Gly25995Asp)
|
rs745801476
|
0.00001
|
NM_001267550.2(TTN):c.77999C>T (p.Thr26000Ile)
|
rs794729506
|
0.00001
|
NM_001267550.2(TTN):c.78382C>T (p.Arg26128Cys)
|
rs373530641
|
0.00001
|
NM_001267550.2(TTN):c.78654T>C (p.His26218=)
|
rs886055244
|
0.00001
|
NM_001267550.2(TTN):c.79342G>A (p.Val26448Met)
|
rs1380054566
|
0.00001
|
NM_001267550.2(TTN):c.79885G>C (p.Glu26629Gln)
|
rs727504673
|
0.00001
|
NM_001267550.2(TTN):c.79909G>A (p.Val26637Ile)
|
rs375605062
|
0.00001
|
NM_001267550.2(TTN):c.80145C>G (p.Val26715=)
|
rs761074887
|
0.00001
|
NM_001267550.2(TTN):c.80185G>C (p.Ala26729Pro)
|
rs1252013447
|
0.00001
|
NM_001267550.2(TTN):c.80228A>C (p.Lys26743Thr)
|
rs368263400
|
0.00001
|
NM_001267550.2(TTN):c.80399T>C (p.Met26800Thr)
|
rs761384994
|
0.00001
|
NM_001267550.2(TTN):c.80414A>C (p.Glu26805Ala)
|
rs370095455
|
0.00001
|
NM_001267550.2(TTN):c.80542G>C (p.Glu26848Gln)
|
rs898433512
|
0.00001
|
NM_001267550.2(TTN):c.80782G>A (p.Val26928Ile)
|
rs780885076
|
0.00001
|
NM_001267550.2(TTN):c.8083A>T (p.Thr2695Ser)
|
rs780082683
|
0.00001
|
NM_001267550.2(TTN):c.81094A>G (p.Ile27032Val)
|
rs369908251
|
0.00001
|
NM_001267550.2(TTN):c.81511T>C (p.Cys27171Arg)
|
rs727504678
|
0.00001
|
NM_001267550.2(TTN):c.82019T>A (p.Ile27340Lys)
|
rs371592971
|
0.00001
|
NM_001267550.2(TTN):c.82021C>T (p.Arg27341Trp)
|
rs746488250
|
0.00001
|
NM_001267550.2(TTN):c.82133A>C (p.Lys27378Thr)
|
rs886055240
|
0.00001
|
NM_001267550.2(TTN):c.82408C>A (p.Pro27470Thr)
|
rs886055239
|
0.00001
|
NM_001267550.2(TTN):c.82687C>T (p.Arg27563Cys)
|
rs72648214
|
0.00001
|
NM_001267550.2(TTN):c.82964G>A (p.Gly27655Asp)
|
rs373745130
|
0.00001
|
NM_001267550.2(TTN):c.83404A>G (p.Ile27802Val)
|
rs727504723
|
0.00001
|
NM_001267550.2(TTN):c.83827G>A (p.Gly27943Arg)
|
rs886055236
|
0.00001
|
NM_001267550.2(TTN):c.83979T>C (p.Thr27993=)
|
rs755164013
|
0.00001
|
NM_001267550.2(TTN):c.84122C>T (p.Ala28041Val)
|
rs900858263
|
0.00001
|
NM_001267550.2(TTN):c.84347T>C (p.Ile28116Thr)
|
rs1468127080
|
0.00001
|
NM_001267550.2(TTN):c.84398A>G (p.Asn28133Ser)
|
rs727505053
|
0.00001
|
NM_001267550.2(TTN):c.85003T>G (p.Ser28335Ala)
|
rs147895770
|
0.00001
|
NM_001267550.2(TTN):c.85119G>T (p.Glu28373Asp)
|
rs770787056
|
0.00001
|
NM_001267550.2(TTN):c.85383T>C (p.Asn28461=)
|
rs886055235
|
0.00001
|
NM_001267550.2(TTN):c.86259A>G (p.Leu28753=)
|
rs886055233
|
0.00001
|
NM_001267550.2(TTN):c.87077C>T (p.Pro29026Leu)
|
rs876658090
|
0.00001
|
NM_001267550.2(TTN):c.87131T>C (p.Ile29044Thr)
|
rs768120552
|
0.00001
|
NM_001267550.2(TTN):c.8713G>A (p.Val2905Met)
|
rs369380469
|
0.00001
|
NM_001267550.2(TTN):c.88009+5G>A
|
rs148231754
|
0.00001
|
NM_001267550.2(TTN):c.88109A>G (p.Tyr29370Cys)
|
rs756679529
|
0.00001
|
NM_001267550.2(TTN):c.88156A>T (p.Ser29386Cys)
|
rs727505102
|
0.00001
|
NM_001267550.2(TTN):c.88514G>A (p.Arg29505His)
|
rs143193258
|
0.00001
|
NM_001267550.2(TTN):c.88820G>A (p.Arg29607Gln)
|
rs755212831
|
0.00001
|
NM_001267550.2(TTN):c.88863A>C (p.Glu29621Asp)
|
rs750981091
|
0.00001
|
NM_001267550.2(TTN):c.88992T>C (p.Asp29664=)
|
rs201658018
|
0.00001
|
NM_001267550.2(TTN):c.89207G>C (p.Gly29736Ala)
|
rs1454670479
|
0.00001
|
NM_001267550.2(TTN):c.8921T>C (p.Met2974Thr)
|
rs899464143
|
0.00001
|
NM_001267550.2(TTN):c.89552C>A (p.Ala29851Asp)
|
rs774885355
|
0.00001
|
NM_001267550.2(TTN):c.90103C>T (p.Arg30035Cys)
|
rs397517747
|
0.00001
|
NM_001267550.2(TTN):c.90161C>T (p.Pro30054Leu)
|
rs767891763
|
0.00001
|
NM_001267550.2(TTN):c.90186_90188del (p.Thr30063del)
|
rs758914867
|
0.00001
|
NM_001267550.2(TTN):c.90441C>A (p.His30147Gln)
|
rs72648242
|
0.00001
|
NM_001267550.2(TTN):c.91813T>A (p.Ser30605Thr)
|
rs984360776
|
0.00001
|
NM_001267550.2(TTN):c.92291C>A (p.Thr30764Lys)
|
rs376537509
|
0.00001
|
NM_001267550.2(TTN):c.92488G>A (p.Val30830Ile)
|
rs376287060
|
0.00001
|
NM_001267550.2(TTN):c.92552T>G (p.Met30851Arg)
|
rs1206527
|
0.00001
|
NM_001267550.2(TTN):c.92821G>A (p.Ala30941Thr)
|
rs777150584
|
0.00001
|
NM_001267550.2(TTN):c.9303C>G (p.Asp3101Glu)
|
rs148676491
|
0.00001
|
NM_001267550.2(TTN):c.93262T>G (p.Phe31088Val)
|
rs1023137329
|
0.00001
|
NM_001267550.2(TTN):c.93288T>C (p.Tyr31096=)
|
rs1280272876
|
0.00001
|
NM_001267550.2(TTN):c.93576T>C (p.Ala31192=)
|
rs377521708
|
0.00001
|
NM_001267550.2(TTN):c.93935T>G (p.Val31312Gly)
|
rs201344229
|
0.00001
|
NM_001267550.2(TTN):c.94599T>C (p.Asp31533=)
|
rs764363274
|
0.00001
|
NM_001267550.2(TTN):c.94652T>C (p.Val31551Ala)
|
rs369870689
|
0.00001
|
NM_001267550.2(TTN):c.95234T>G (p.Val31745Gly)
|
rs886042114
|
0.00001
|
NM_001267550.2(TTN):c.95468A>G (p.His31823Arg)
|
rs794729539
|
0.00001
|
NM_001267550.2(TTN):c.95616C>A (p.Ser31872Arg)
|
rs757129504
|
0.00001
|
NM_001267550.2(TTN):c.95728C>T (p.Pro31910Ser)
|
rs199618831
|
0.00001
|
NM_001267550.2(TTN):c.9642T>A (p.Asp3214Glu)
|
rs368323634
|
0.00001
|
NM_001267550.2(TTN):c.96592C>G (p.Leu32198Val)
|
rs752075170
|
0.00001
|
NM_001267550.2(TTN):c.96698G>A (p.Arg32233Gln)
|
rs755082341
|
0.00001
|
NM_001267550.2(TTN):c.96931A>G (p.Met32311Val)
|
rs727504981
|
0.00001
|
NM_001267550.2(TTN):c.97051G>A (p.Glu32351Lys)
|
rs727504879
|
0.00001
|
NM_001267550.2(TTN):c.97112T>G (p.Ile32371Ser)
|
rs748682168
|
0.00001
|
NM_001267550.2(TTN):c.97319G>A (p.Arg32440His)
|
rs750047570
|
0.00001
|
NM_001267550.2(TTN):c.9770G>A (p.Arg3257His)
|
rs535876380
|
0.00001
|
NM_001267550.2(TTN):c.97754C>G (p.Pro32585Arg)
|
rs373959972
|
0.00001
|
NM_001267550.2(TTN):c.97892A>T (p.Lys32631Ile)
|
rs944963846
|
0.00001
|
NM_001267550.2(TTN):c.97943C>A (p.Thr32648Asn)
|
rs775309560
|
0.00001
|
NM_001267550.2(TTN):c.98169A>C (p.Arg32723Ser)
|
rs753058072
|
0.00001
|
NM_001267550.2(TTN):c.9820A>C (p.Lys3274Gln)
|
rs201696360
|
0.00001
|
NM_001267550.2(TTN):c.98803G>A (p.Glu32935Lys)
|
rs1407053984
|
0.00001
|
NM_001267550.2(TTN):c.99154C>T (p.Arg33052Cys)
|
rs758109676
|
0.00001
|
NM_001289808.2(CRYAB):c.*60G>A
|
rs540926728
|
0.00001
|
NM_001289808.2(CRYAB):c.102G>T (p.Glu34Asp)
|
rs886047688
|
0.00001
|
NM_001289808.2(CRYAB):c.362A>G (p.Lys121Arg)
|
rs781915800
|
0.00001
|
NM_001368067.1(LDB3):c.405C>A (p.His135Gln)
|
rs928294708
|
0.00001
|
NM_001368067.1(LDB3):c.418G>A (p.Val140Met)
|
rs745329859
|
0.00001
|
NM_001368067.1(LDB3):c.430G>A (p.Gly144Ser)
|
rs915830221
|
0.00001
|
NM_001368067.1(LDB3):c.455C>A (p.Ala152Glu)
|
rs753193786
|
0.00001
|
NM_001368067.1(LDB3):c.490G>C (p.Asp164His)
|
rs1000020884
|
0.00001
|
NM_001368067.1(LDB3):c.517C>A (p.Gln173Lys)
|
rs1220958570
|
0.00001
|
NM_001368067.1(LDB3):c.530A>G (p.Gln177Arg)
|
rs1310394018
|
0.00001
|
NM_001368067.1(LDB3):c.545G>A (p.Ser182Asn)
|
rs774522659
|
0.00001
|
NM_001368067.1(LDB3):c.766G>A (p.Glu256Lys)
|
rs774307690
|
0.00001
|
NM_001368067.1(LDB3):c.772G>C (p.Glu258Gln)
|
rs868365512
|
0.00001
|
NM_001368067.1(LDB3):c.776G>A (p.Arg259His)
|
rs557033441
|
0.00001
|
NM_001368067.1(LDB3):c.803G>A (p.Arg268His)
|
rs751981682
|
0.00001
|
NM_001458.5(FLNC):c.1052C>T (p.Thr351Ile)
|
rs1309343033
|
0.00001
|
NM_001458.5(FLNC):c.1054G>A (p.Val352Met)
|
rs773023988
|
0.00001
|
NM_001458.5(FLNC):c.1097T>C (p.Val366Ala)
|
rs1324323411
|
0.00001
|
NM_001458.5(FLNC):c.1171G>A (p.Val391Met)
|
rs757887021
|
0.00001
|
NM_001458.5(FLNC):c.1186A>G (p.Thr396Ala)
|
rs1437029966
|
0.00001
|
NM_001458.5(FLNC):c.1216G>A (p.Gly406Ser)
|
rs1343684536
|
0.00001
|
NM_001458.5(FLNC):c.125T>C (p.Phe42Ser)
|
rs777706683
|
0.00001
|
NM_001458.5(FLNC):c.1328C>T (p.Ala443Val)
|
rs1808207788
|
0.00001
|
NM_001458.5(FLNC):c.1364C>T (p.Ala455Val)
|
rs777210524
|
0.00001
|
NM_001458.5(FLNC):c.1367G>T (p.Gly456Val)
|
rs765622614
|
0.00001
|
NM_001458.5(FLNC):c.1412-3del
|
rs765490580
|
0.00001
|
NM_001458.5(FLNC):c.1418A>G (p.Asn473Ser)
|
rs747289343
|
0.00001
|
NM_001458.5(FLNC):c.1433G>A (p.Arg478His)
|
rs749593461
|
0.00001
|
NM_001458.5(FLNC):c.1468C>T (p.Arg490Cys)
|
rs1422233407
|
0.00001
|
NM_001458.5(FLNC):c.1506G>A (p.Lys502=)
|
rs749823564
|
0.00001
|
NM_001458.5(FLNC):c.1508G>A (p.Gly503Asp)
|
rs1483134760
|
0.00001
|
NM_001458.5(FLNC):c.152A>G (p.Lys51Arg)
|
rs1807854319
|
0.00001
|
NM_001458.5(FLNC):c.1553G>A (p.Gly518Asp)
|
rs1168879153
|
0.00001
|
NM_001458.5(FLNC):c.1591G>A (p.Gly531Ser)
|
rs779855512
|
0.00001
|
NM_001458.5(FLNC):c.1609T>G (p.Tyr537Asp)
|
rs760471547
|
0.00001
|
NM_001458.5(FLNC):c.161G>A (p.Gly54Asp)
|
rs1032152678
|
0.00001
|
NM_001458.5(FLNC):c.163A>C (p.Lys55Gln)
|
rs769870285
|
0.00001
|
NM_001458.5(FLNC):c.1663G>A (p.Ala555Thr)
|
rs1163059574
|
0.00001
|
NM_001458.5(FLNC):c.1729T>G (p.Trp577Gly)
|
rs757878206
|
0.00001
|
NM_001458.5(FLNC):c.1766C>T (p.Ser589Leu)
|
rs780098760
|
0.00001
|
NM_001458.5(FLNC):c.1771G>A (p.Asp591Asn)
|
rs768829742
|
0.00001
|
NM_001458.5(FLNC):c.1782G>A (p.Val594=)
|
rs1317106205
|
0.00001
|
NM_001458.5(FLNC):c.1825G>A (p.Glu609Lys)
|
rs758389160
|
0.00001
|
NM_001458.5(FLNC):c.185G>A (p.Arg62His)
|
rs1308771065
|
0.00001
|
NM_001458.5(FLNC):c.1867G>A (p.Asp623Asn)
|
rs912680912
|
0.00001
|
NM_001458.5(FLNC):c.1879G>A (p.Asp627Asn)
|
rs1256634062
|
0.00001
|
NM_001458.5(FLNC):c.1948C>G (p.Arg650Gly)
|
rs770606675
|
0.00001
|
NM_001458.5(FLNC):c.196G>T (p.Asp66Tyr)
|
rs1373245749
|
0.00001
|
NM_001458.5(FLNC):c.1979C>T (p.Pro660Leu)
|
rs775292418
|
0.00001
|
NM_001458.5(FLNC):c.2023C>T (p.Pro675Ser)
|
rs1227192105
|
0.00001
|
NM_001458.5(FLNC):c.2063C>T (p.Ala688Val)
|
rs772223832
|
0.00001
|
NM_001458.5(FLNC):c.2065G>A (p.Glu689Lys)
|
rs1446694237
|
0.00001
|
NM_001458.5(FLNC):c.2121+4G>A
|
rs372098008
|
0.00001
|
NM_001458.5(FLNC):c.2121+5G>A
|
rs376348610
|
0.00001
|
NM_001458.5(FLNC):c.2141T>C (p.Ile714Thr)
|
rs1554398541
|
0.00001
|
NM_001458.5(FLNC):c.214G>A (p.Ala72Thr)
|
rs751548628
|
0.00001
|
NM_001458.5(FLNC):c.2170G>A (p.Gly724Ser)
|
rs764774528
|
0.00001
|
NM_001458.5(FLNC):c.2179C>T (p.Arg727Cys)
|
rs752627571
|
0.00001
|
NM_001458.5(FLNC):c.2212C>G (p.His738Asp)
|
rs1236577531
|
0.00001
|
NM_001458.5(FLNC):c.2263C>T (p.Arg755Trp)
|
rs990718751
|
0.00001
|
NM_001458.5(FLNC):c.2264G>A (p.Arg755Gln)
|
rs781101985
|
0.00001
|
NM_001458.5(FLNC):c.2265+5G>A
|
rs1049500135
|
0.00001
|
NM_001458.5(FLNC):c.227T>G (p.Val76Gly)
|
rs1011301530
|
0.00001
|
NM_001458.5(FLNC):c.2293G>A (p.Glu765Lys)
|
rs373798394
|
0.00001
|
NM_001458.5(FLNC):c.2317G>A (p.Gly773Arg)
|
rs1322212555
|
0.00001
|
NM_001458.5(FLNC):c.2344A>G (p.Asn782Asp)
|
rs1055062421
|
0.00001
|
NM_001458.5(FLNC):c.2353A>G (p.Thr785Ala)
|
rs1808384296
|
0.00001
|
NM_001458.5(FLNC):c.2361C>G (p.Phe787Leu)
|
rs1471063024
|
0.00001
|
NM_001458.5(FLNC):c.2363C>T (p.Thr788Met)
|
rs1010774264
|
0.00001
|
NM_001458.5(FLNC):c.2375G>T (p.Ser792Ile)
|
rs1227658348
|
0.00001
|
NM_001458.5(FLNC):c.2376C>T (p.Ser792=)
|
rs754097557
|
0.00001
|
NM_001458.5(FLNC):c.2380G>A (p.Ala794Thr)
|
rs1198975298
|
0.00001
|
NM_001458.5(FLNC):c.2389+4C>T
|
rs1057523921
|
0.00001
|
NM_001458.5(FLNC):c.2400C>A (p.Ser800Arg)
|
rs748717566
|
0.00001
|
NM_001458.5(FLNC):c.2404G>A (p.Gly802Ser)
|
rs371398126
|
0.00001
|
NM_001458.5(FLNC):c.2416G>A (p.Ala806Thr)
|
rs1386986739
|
0.00001
|
NM_001458.5(FLNC):c.2424C>T (p.Gly808=)
|
rs764991202
|
0.00001
|
NM_001458.5(FLNC):c.2489C>T (p.Thr830Ile)
|
rs1367245869
|
0.00001
|
NM_001458.5(FLNC):c.2516G>A (p.Gly839Asp)
|
rs940353148
|
0.00001
|
NM_001458.5(FLNC):c.2617G>A (p.Glu873Lys)
|
rs771092335
|
0.00001
|
NM_001458.5(FLNC):c.2627G>T (p.Gly876Val)
|
rs534407127
|
0.00001
|
NM_001458.5(FLNC):c.2639C>T (p.Thr880Ile)
|
rs1324832799
|
0.00001
|
NM_001458.5(FLNC):c.263C>A (p.Pro88Gln)
|
rs1807860720
|
0.00001
|
NM_001458.5(FLNC):c.2642-3C>T
|
rs1808423104
|
0.00001
|
NM_001458.5(FLNC):c.2642G>T (p.Gly881Val)
|
rs377095070
|
0.00001
|
NM_001458.5(FLNC):c.2650G>T (p.Val884Phe)
|
rs770379589
|
0.00001
|
NM_001458.5(FLNC):c.2653G>A (p.Gly885Arg)
|
rs769110628
|
0.00001
|
NM_001458.5(FLNC):c.2666A>G (p.His889Arg)
|
rs1808424297
|
0.00001
|
NM_001458.5(FLNC):c.2674G>A (p.Val892Met)
|
rs200986712
|
0.00001
|
NM_001458.5(FLNC):c.2717T>C (p.Phe906Ser)
|
rs1212936871
|
0.00001
|
NM_001458.5(FLNC):c.2746C>T (p.Arg916Trp)
|
rs762095761
|
0.00001
|
NM_001458.5(FLNC):c.2767A>C (p.Asn923His)
|
rs1420123492
|
0.00001
|
NM_001458.5(FLNC):c.2780C>T (p.Ser927Phe)
|
rs1585158690
|
0.00001
|
NM_001458.5(FLNC):c.2811+4C>T
|
rs146715204
|
0.00001
|
NM_001458.5(FLNC):c.2811+5G>A
|
rs781538211
|
0.00001
|
NM_001458.5(FLNC):c.2821G>A (p.Ala941Thr)
|
rs1334463747
|
0.00001
|
NM_001458.5(FLNC):c.292G>C (p.Glu98Gln)
|
rs1195481399
|
0.00001
|
NM_001458.5(FLNC):c.2930A>G (p.Lys977Arg)
|
rs1808450221
|
0.00001
|
NM_001458.5(FLNC):c.2969C>T (p.Thr990Ile)
|
rs933349270
|
0.00001
|
NM_001458.5(FLNC):c.2983G>A (p.Gly995Ser)
|
rs752053093
|
0.00001
|
NM_001458.5(FLNC):c.3014C>T (p.Ser1005Leu)
|
rs752448040
|
0.00001
|
NM_001458.5(FLNC):c.3067G>C (p.Ala1023Pro)
|
rs376107866
|
0.00001
|
NM_001458.5(FLNC):c.3080G>A (p.Arg1027His)
|
rs904161285
|
0.00001
|
NM_001458.5(FLNC):c.3118A>G (p.Ile1040Val)
|
rs759012932
|
0.00001
|
NM_001458.5(FLNC):c.3137C>T (p.Pro1046Leu)
|
rs768820218
|
0.00001
|
NM_001458.5(FLNC):c.3152C>T (p.Pro1051Leu)
|
rs546130026
|
0.00001
|
NM_001458.5(FLNC):c.3266G>A (p.Gly1089Glu)
|
rs1258543242
|
0.00001
|
NM_001458.5(FLNC):c.3313G>T (p.Ala1105Ser)
|
rs751887771
|
0.00001
|
NM_001458.5(FLNC):c.3428C>T (p.Ser1143Leu)
|
rs756192123
|
0.00001
|
NM_001458.5(FLNC):c.3467G>A (p.Ser1156Asn)
|
rs768725458
|
0.00001
|
NM_001458.5(FLNC):c.3475C>T (p.Arg1159Trp)
|
rs760500171
|
0.00001
|
NM_001458.5(FLNC):c.3476G>A (p.Arg1159Gln)
|
rs141199483
|
0.00001
|
NM_001458.5(FLNC):c.3511G>A (p.Gly1171Ser)
|
rs769490872
|
0.00001
|
NM_001458.5(FLNC):c.352+3C>T
|
rs750255204
|
0.00001
|
NM_001458.5(FLNC):c.3553G>A (p.Glu1185Lys)
|
rs912926530
|
0.00001
|
NM_001458.5(FLNC):c.3589G>A (p.Gly1197Arg)
|
rs753812010
|
0.00001
|
NM_001458.5(FLNC):c.3745G>A (p.Asp1249Asn)
|
rs774968828
|
0.00001
|
NM_001458.5(FLNC):c.3785C>T (p.Pro1262Leu)
|
rs757144162
|
0.00001
|
NM_001458.5(FLNC):c.3793G>A (p.Val1265Ile)
|
rs368102638
|
0.00001
|
NM_001458.5(FLNC):c.3832A>G (p.Arg1278Gly)
|
rs772667448
|
0.00001
|
NM_001458.5(FLNC):c.3845C>T (p.Ala1282Val)
|
rs1256859746
|
0.00001
|
NM_001458.5(FLNC):c.3890G>A (p.Gly1297Glu)
|
rs771575526
|
0.00001
|
NM_001458.5(FLNC):c.3893C>T (p.Ala1298Val)
|
rs1064796931
|
0.00001
|
NM_001458.5(FLNC):c.3928G>A (p.Gly1310Ser)
|
rs767079356
|
0.00001
|
NM_001458.5(FLNC):c.3937C>G (p.Arg1313Gly)
|
rs766330686
|
0.00001
|
NM_001458.5(FLNC):c.3956A>G (p.Tyr1319Cys)
|
rs1808556919
|
0.00001
|
NM_001458.5(FLNC):c.4030G>A (p.Val1344Met)
|
rs374127804
|
0.00001
|
NM_001458.5(FLNC):c.4057G>A (p.Val1353Ile)
|
rs1321855034
|
0.00001
|
NM_001458.5(FLNC):c.4060C>G (p.Arg1354Gly)
|
rs138193236
|
0.00001
|
NM_001458.5(FLNC):c.4066T>G (p.Phe1356Val)
|
rs1276975364
|
0.00001
|
NM_001458.5(FLNC):c.4109G>A (p.Arg1370Gln)
|
rs761881020
|
0.00001
|
NM_001458.5(FLNC):c.4117G>A (p.Val1373Met)
|
rs1159994552
|
0.00001
|
NM_001458.5(FLNC):c.4133C>T (p.Ala1378Val)
|
rs748008658
|
0.00001
|
NM_001458.5(FLNC):c.4141G>A (p.Gly1381Arg)
|
rs766513255
|
0.00001
|
NM_001458.5(FLNC):c.4180A>G (p.Lys1394Glu)
|
rs1430761286
|
0.00001
|
NM_001458.5(FLNC):c.4219G>A (p.Val1407Met)
|
rs375366821
|
0.00001
|
NM_001458.5(FLNC):c.4229T>A (p.Ile1410Asn)
|
rs778951900
|
0.00001
|
NM_001458.5(FLNC):c.4288+3G>A
|
rs1199950013
|
0.00001
|
NM_001458.5(FLNC):c.4295C>T (p.Pro1432Leu)
|
rs1427806742
|
0.00001
|
NM_001458.5(FLNC):c.4310T>C (p.Val1437Ala)
|
rs754170282
|
0.00001
|
NM_001458.5(FLNC):c.4372A>G (p.Arg1458Gly)
|
rs762257502
|
0.00001
|
NM_001458.5(FLNC):c.439A>G (p.Met147Val)
|
rs539316555
|
0.00001
|
NM_001458.5(FLNC):c.43G>A (p.Gly15Ser)
|
rs1263243888
|
0.00001
|
NM_001458.5(FLNC):c.4421G>A (p.Arg1474Gln)
|
rs376380652
|
0.00001
|
NM_001458.5(FLNC):c.4471G>A (p.Val1491Met)
|
rs186904046
|
0.00001
|
NM_001458.5(FLNC):c.4474G>A (p.Glu1492Lys)
|
rs71581926
|
0.00001
|
NM_001458.5(FLNC):c.4483G>A (p.Asp1495Asn)
|
rs748265400
|
0.00001
|
NM_001458.5(FLNC):c.4549G>A (p.Val1517Ile)
|
rs532654321
|
0.00001
|
NM_001458.5(FLNC):c.4552A>C (p.Lys1518Gln)
|
rs778417108
|
0.00001
|
NM_001458.5(FLNC):c.4576C>T (p.Arg1526Cys)
|
rs746275035
|
0.00001
|
NM_001458.5(FLNC):c.4577G>A (p.Arg1526His)
|
rs374729872
|
0.00001
|
NM_001458.5(FLNC):c.4579A>G (p.Ser1527Gly)
|
rs747642919
|
0.00001
|
NM_001458.5(FLNC):c.4589A>G (p.Lys1530Arg)
|
rs756526090
|
0.00001
|
NM_001458.5(FLNC):c.4590G>T (p.Lys1530Asn)
|
rs778534100
|
0.00001
|
NM_001458.5(FLNC):c.4597G>A (p.Val1533Ile)
|
rs1554399973
|
0.00001
|
NM_001458.5(FLNC):c.4661T>C (p.Ile1554Thr)
|
rs777526166
|
0.00001
|
NM_001458.5(FLNC):c.4702G>A (p.Asp1568Asn)
|
rs1449992399
|
0.00001
|
NM_001458.5(FLNC):c.470G>A (p.Arg157His)
|
rs752919962
|
0.00001
|
NM_001458.5(FLNC):c.4741C>A (p.Pro1581Thr)
|
rs972936640
|
0.00001
|
NM_001458.5(FLNC):c.4779T>G (p.Asn1593Lys)
|
rs948081935
|
0.00001
|
NM_001458.5(FLNC):c.4790C>T (p.Thr1597Met)
|
rs753742681
|
0.00001
|
NM_001458.5(FLNC):c.4795A>G (p.Thr1599Ala)
|
rs2643767
|
0.00001
|
NM_001458.5(FLNC):c.4831A>T (p.Thr1611Ser)
|
rs770231264
|
0.00001
|
NM_001458.5(FLNC):c.4852G>A (p.Gly1618Ser)
|
rs367824027
|
0.00001
|
NM_001458.5(FLNC):c.4888G>A (p.Ala1630Thr)
|
rs1479430297
|
0.00001
|
NM_001458.5(FLNC):c.490C>T (p.Arg164Trp)
|
rs1460797312
|
0.00001
|
NM_001458.5(FLNC):c.4952G>A (p.Gly1651Asp)
|
rs762493974
|
0.00001
|
NM_001458.5(FLNC):c.4977G>C (p.Gln1659His)
|
rs1297786780
|
0.00001
|
NM_001458.5(FLNC):c.5054C>T (p.Pro1685Leu)
|
rs1385628312
|
0.00001
|
NM_001458.5(FLNC):c.5132C>T (p.Pro1711Leu)
|
rs748879903
|
0.00001
|
NM_001458.5(FLNC):c.5155C>T (p.Arg1719Cys)
|
rs773260834
|
0.00001
|
NM_001458.5(FLNC):c.5181C>A (p.Asn1727Lys)
|
rs764500516
|
0.00001
|
NM_001458.5(FLNC):c.5242C>T (p.Pro1748Ser)
|
rs1380018208
|
0.00001
|
NM_001458.5(FLNC):c.5251C>T (p.Arg1751Cys)
|
rs1585165163
|
0.00001
|
NM_001458.5(FLNC):c.5272C>T (p.Arg1758Trp)
|
rs369187211
|
0.00001
|
NM_001458.5(FLNC):c.5275C>T (p.Pro1759Ser)
|
rs892618706
|
0.00001
|
NM_001458.5(FLNC):c.5291C>A (p.Thr1764Lys)
|
rs1585165259
|
0.00001
|
NM_001458.5(FLNC):c.5293C>T (p.His1765Tyr)
|
rs1263073740
|
0.00001
|
NM_001458.5(FLNC):c.5303C>G (p.Thr1768Arg)
|
rs778860499
|
0.00001
|
NM_001458.5(FLNC):c.5320C>T (p.Pro1774Ser)
|
rs370823820
|
0.00001
|
NM_001458.5(FLNC):c.5332A>G (p.Met1778Val)
|
rs1347090077
|
0.00001
|
NM_001458.5(FLNC):c.5341A>G (p.Met1781Val)
|
rs540112341
|
0.00001
|
NM_001458.5(FLNC):c.5353T>A (p.Phe1785Ile)
|
rs1035403005
|
0.00001
|
NM_001458.5(FLNC):c.5395A>C (p.Thr1799Pro)
|
rs1243600050
|
0.00001
|
NM_001458.5(FLNC):c.5417C>T (p.Ser1806Leu)
|
rs1224086145
|
0.00001
|
NM_001458.5(FLNC):c.5440A>G (p.Ile1814Val)
|
rs1168575419
|
0.00001
|
NM_001458.5(FLNC):c.5446G>A (p.Asp1816Asn)
|
rs1198641168
|
0.00001
|
NM_001458.5(FLNC):c.5449A>T (p.Asn1817Tyr)
|
rs373146637
|
0.00001
|
NM_001458.5(FLNC):c.5451C>G (p.Asn1817Lys)
|
rs762869314
|
0.00001
|
NM_001458.5(FLNC):c.5458G>A (p.Gly1820Ser)
|
rs763930207
|
0.00001
|
NM_001458.5(FLNC):c.5508G>A (p.Met1836Ile)
|
rs1175006964
|
0.00001
|
NM_001458.5(FLNC):c.5524G>A (p.Gly1842Ser)
|
rs756880490
|
0.00001
|
NM_001458.5(FLNC):c.5758C>A (p.Pro1920Thr)
|
rs751937921
|
0.00001
|
NM_001458.5(FLNC):c.5788G>A (p.Val1930Met)
|
rs370076553
|
0.00001
|
NM_001458.5(FLNC):c.5828C>T (p.Thr1943Ile)
|
rs376413798
|
0.00001
|
NM_001458.5(FLNC):c.5842+6G>A
|
rs1010018310
|
0.00001
|
NM_001458.5(FLNC):c.5872A>T (p.Asn1958Tyr)
|
rs567595947
|
0.00001
|
NM_001458.5(FLNC):c.590A>G (p.Asn197Ser)
|
rs1008787584
|
0.00001
|
NM_001458.5(FLNC):c.5935G>A (p.Ala1979Thr)
|
rs766127245
|
0.00001
|
NM_001458.5(FLNC):c.5962G>A (p.Glu1988Lys)
|
rs1288953274
|
0.00001
|
NM_001458.5(FLNC):c.5996G>A (p.Arg1999Gln)
|
rs1346364708
|
0.00001
|
NM_001458.5(FLNC):c.59A>C (p.Glu20Ala)
|
rs1478918808
|
0.00001
|
NM_001458.5(FLNC):c.6000C>G (p.His2000Gln)
|
rs1254027067
|
0.00001
|
NM_001458.5(FLNC):c.6022A>G (p.Lys2008Glu)
|
rs772621794
|
0.00001
|
NM_001458.5(FLNC):c.6043G>A (p.Val2015Met)
|
rs775231810
|
0.00001
|
NM_001458.5(FLNC):c.6049G>A (p.Val2017Met)
|
rs1019545678
|
0.00001
|
NM_001458.5(FLNC):c.6068A>G (p.His2023Arg)
|
rs1808882683
|
0.00001
|
NM_001458.5(FLNC):c.606C>G (p.Leu202=)
|
rs1246016210
|
0.00001
|
NM_001458.5(FLNC):c.6094C>G (p.Leu2032Val)
|
rs773543205
|
0.00001
|
NM_001458.5(FLNC):c.6149G>A (p.Gly2050Glu)
|
rs1261109029
|
0.00001
|
NM_001458.5(FLNC):c.6200G>A (p.Arg2067His)
|
rs776520014
|
0.00001
|
NM_001458.5(FLNC):c.6233T>C (p.Ile2078Thr)
|
rs780762913
|
0.00001
|
NM_001458.5(FLNC):c.6271A>G (p.Met2091Val)
|
rs1438491751
|
0.00001
|
NM_001458.5(FLNC):c.6302G>A (p.Cys2101Tyr)
|
rs760120511
|
0.00001
|
NM_001458.5(FLNC):c.6328A>G (p.Ile2110Val)
|
rs1236042892
|
0.00001
|
NM_001458.5(FLNC):c.6388G>A (p.Gly2130Ser)
|
rs375778608
|
0.00001
|
NM_001458.5(FLNC):c.6391G>A (p.Glu2131Lys)
|
rs757511370
|
0.00001
|
NM_001458.5(FLNC):c.6398G>A (p.Arg2133His)
|
rs1808925531
|
0.00001
|
NM_001458.5(FLNC):c.6484+6A>T
|
rs764061858
|
0.00001
|
NM_001458.5(FLNC):c.6517C>T (p.Arg2173Cys)
|
rs767250474
|
0.00001
|
NM_001458.5(FLNC):c.6529A>G (p.Thr2177Ala)
|
rs1285672775
|
0.00001
|
NM_001458.5(FLNC):c.652G>A (p.Ala218Thr)
|
rs777415462
|
0.00001
|
NM_001458.5(FLNC):c.6559C>T (p.Arg2187Cys)
|
rs747336635
|
0.00001
|
NM_001458.5(FLNC):c.655C>T (p.Arg219Trp)
|
rs931787034
|
0.00001
|
NM_001458.5(FLNC):c.6568C>T (p.Arg2190Cys)
|
rs1474675847
|
0.00001
|
NM_001458.5(FLNC):c.6590G>A (p.Arg2197Gln)
|
rs760535041
|
0.00001
|
NM_001458.5(FLNC):c.6607C>T (p.Arg2203Cys)
|
rs758838323
|
0.00001
|
NM_001458.5(FLNC):c.6608G>A (p.Arg2203His)
|
rs1063262
|
0.00001
|
NM_001458.5(FLNC):c.6610G>A (p.Glu2204Lys)
|
rs1476564683
|
0.00001
|
NM_001458.5(FLNC):c.6640G>A (p.Gly2214Ser)
|
rs1431110219
|
0.00001
|
NM_001458.5(FLNC):c.6643G>A (p.Gly2215Arg)
|
rs1310201356
|
0.00001
|
NM_001458.5(FLNC):c.6659C>T (p.Ala2220Val)
|
rs370839908
|
0.00001
|
NM_001458.5(FLNC):c.6724G>A (p.Glu2242Lys)
|
rs1265897548
|
0.00001
|
NM_001458.5(FLNC):c.6728G>A (p.Gly2243Asp)
|
rs1311623651
|
0.00001
|
NM_001458.5(FLNC):c.6754G>A (p.Ala2252Thr)
|
rs963272191
|
0.00001
|
NM_001458.5(FLNC):c.6849G>A (p.Met2283Ile)
|
rs1375490850
|
0.00001
|
NM_001458.5(FLNC):c.6877C>T (p.Arg2293Cys)
|
rs571239463
|
0.00001
|
NM_001458.5(FLNC):c.6878G>A (p.Arg2293His)
|
rs1034483511
|
0.00001
|
NM_001458.5(FLNC):c.6895G>A (p.Gly2299Ser)
|
rs756870838
|
0.00001
|
NM_001458.5(FLNC):c.699+5A>G
|
rs1808129501
|
0.00001
|
NM_001458.5(FLNC):c.6997+4A>G
|
rs1227552125
|
0.00001
|
NM_001458.5(FLNC):c.7030G>A (p.Ala2344Thr)
|
rs529917784
|
0.00001
|
NM_001458.5(FLNC):c.7094A>G (p.Lys2365Arg)
|
rs751765487
|
0.00001
|
NM_001458.5(FLNC):c.7135+6C>T
|
rs774739675
|
0.00001
|
NM_001458.5(FLNC):c.7151C>T (p.Ser2384Phe)
|
rs1219809283
|
0.00001
|
NM_001458.5(FLNC):c.7198C>G (p.Pro2400Ala)
|
rs1390223951
|
0.00001
|
NM_001458.5(FLNC):c.7222G>A (p.Ala2408Thr)
|
rs376257910
|
0.00001
|
NM_001458.5(FLNC):c.7225C>T (p.Arg2409Cys)
|
rs1244377387
|
0.00001
|
NM_001458.5(FLNC):c.730A>G (p.Asn244Asp)
|
rs1020489966
|
0.00001
|
NM_001458.5(FLNC):c.731A>G (p.Asn244Ser)
|
rs773579752
|
0.00001
|
NM_001458.5(FLNC):c.7324G>T (p.Ala2442Ser)
|
rs1160639957
|
0.00001
|
NM_001458.5(FLNC):c.7328G>A (p.Arg2443Gln)
|
rs370293647
|
0.00001
|
NM_001458.5(FLNC):c.7432A>G (p.Ile2478Val)
|
rs1430261045
|
0.00001
|
NM_001458.5(FLNC):c.748G>A (p.Val250Ile)
|
rs1562991895
|
0.00001
|
NM_001458.5(FLNC):c.7554C>T (p.Gly2518=)
|
rs761216494
|
0.00001
|
NM_001458.5(FLNC):c.7561G>A (p.Gly2521Ser)
|
rs746969946
|
0.00001
|
NM_001458.5(FLNC):c.7576T>A (p.Phe2526Ile)
|
rs373973635
|
0.00001
|
NM_001458.5(FLNC):c.7580T>C (p.Ile2527Thr)
|
rs749891076
|
0.00001
|
NM_001458.5(FLNC):c.7582G>A (p.Val2528Met)
|
rs1317229834
|
0.00001
|
NM_001458.5(FLNC):c.7588A>G (p.Thr2530Ala)
|
rs760694025
|
0.00001
|
NM_001458.5(FLNC):c.7604C>T (p.Ser2535Leu)
|
rs201895675
|
0.00001
|
NM_001458.5(FLNC):c.7647G>T (p.Gln2549His)
|
rs771689118
|
0.00001
|
NM_001458.5(FLNC):c.7652A>G (p.Asp2551Gly)
|
rs1040102987
|
0.00001
|
NM_001458.5(FLNC):c.7657C>T (p.Arg2553Trp)
|
rs199519281
|
0.00001
|
NM_001458.5(FLNC):c.7709A>G (p.Asn2570Ser)
|
rs1381739439
|
0.00001
|
NM_001458.5(FLNC):c.7732G>A (p.Gly2578Ser)
|
rs566747845
|
0.00001
|
NM_001458.5(FLNC):c.7807C>T (p.Leu2603Phe)
|
rs746685461
|
0.00001
|
NM_001458.5(FLNC):c.7834G>A (p.Glu2612Lys)
|
rs1183050599
|
0.00001
|
NM_001458.5(FLNC):c.7840G>A (p.Val2614Met)
|
rs745434129
|
0.00001
|
NM_001458.5(FLNC):c.7861C>T (p.Arg2621Trp)
|
rs1411832198
|
0.00001
|
NM_001458.5(FLNC):c.7903G>A (p.Ala2635Thr)
|
rs1009545372
|
0.00001
|
NM_001458.5(FLNC):c.7922G>A (p.Arg2641Gln)
|
rs760857362
|
0.00001
|
NM_001458.5(FLNC):c.7946T>C (p.Phe2649Ser)
|
rs755387909
|
0.00001
|
NM_001458.5(FLNC):c.802G>A (p.Val268Ile)
|
rs1210929657
|
0.00001
|
NM_001458.5(FLNC):c.8047T>A (p.Tyr2683Asn)
|
rs1377893206
|
0.00001
|
NM_001458.5(FLNC):c.806G>A (p.Arg269Gln)
|
rs1585152863
|
0.00001
|
NM_001458.5(FLNC):c.8089A>G (p.Thr2697Ala)
|
rs1292665355
|
0.00001
|
NM_001458.5(FLNC):c.8114T>C (p.Ile2705Thr)
|
rs553714847
|
0.00001
|
NM_001458.5(FLNC):c.8137G>A (p.Glu2713Lys)
|
rs758271134
|
0.00001
|
NM_001458.5(FLNC):c.8170G>T (p.Val2724Phe)
|
rs1220183666
|
0.00001
|
NM_001458.5(FLNC):c.842A>G (p.Tyr281Cys)
|
rs1202164075
|
0.00001
|
NM_001458.5(FLNC):c.856G>A (p.Glu286Lys)
|
rs1274480597
|
0.00001
|
NM_001458.5(FLNC):c.905C>T (p.Thr302Met)
|
rs776362922
|
0.00001
|
NM_001458.5(FLNC):c.943G>A (p.Glu315Lys)
|
rs756104407
|
0.00001
|
NM_001458.5(FLNC):c.969+4T>G
|
rs953435954
|
0.00001
|
NM_001458.5(FLNC):c.970-3T>C
|
rs1250140261
|
0.00001
|
NM_006790.3(MYOT):c.*167A>G
|
rs886059969
|
0.00001
|
NM_006790.3(MYOT):c.1015G>A (p.Asp339Asn)
|
rs201903235
|
0.00001
|
NM_006790.3(MYOT):c.1025-3T>C
|
rs1410370327
|
0.00001
|
NM_006790.3(MYOT):c.1126C>T (p.Pro376Ser)
|
rs777061001
|
0.00001
|
NM_006790.3(MYOT):c.1139T>C (p.Leu380Pro)
|
rs902179316
|
0.00001
|
NM_006790.3(MYOT):c.1184G>A (p.Arg395Gln)
|
rs761659382
|
0.00001
|
NM_006790.3(MYOT):c.1191C>T (p.Ser397=)
|
rs1430285102
|
0.00001
|
NM_006790.3(MYOT):c.1195T>C (p.Tyr399His)
|
rs147239483
|
0.00001
|
NM_006790.3(MYOT):c.1222T>C (p.Leu408=)
|
rs886059968
|
0.00001
|
NM_006790.3(MYOT):c.122T>C (p.Ile41Thr)
|
rs587780396
|
0.00001
|
NM_006790.3(MYOT):c.1300T>C (p.Cys434Arg)
|
rs769872126
|
0.00001
|
NM_006790.3(MYOT):c.1327C>T (p.Arg443Cys)
|
rs192257955
|
0.00001
|
NM_006790.3(MYOT):c.1370G>A (p.Arg457Gln)
|
rs755203621
|
0.00001
|
NM_006790.3(MYOT):c.1391T>C (p.Leu464Ser)
|
rs777693396
|
0.00001
|
NM_006790.3(MYOT):c.1439A>G (p.Glu480Gly)
|
rs727504026
|
0.00001
|
NM_006790.3(MYOT):c.143C>T (p.Thr48Ile)
|
rs770515990
|
0.00001
|
NM_006790.3(MYOT):c.1442G>A (p.Gly481Glu)
|
rs766736443
|
0.00001
|
NM_006790.3(MYOT):c.1471G>A (p.Gly491Arg)
|
rs375274205
|
0.00001
|
NM_006790.3(MYOT):c.1478A>G (p.Tyr493Cys)
|
rs757233743
|
0.00001
|
NM_006790.3(MYOT):c.191T>A (p.Met64Lys)
|
rs763147610
|
0.00001
|
NM_006790.3(MYOT):c.232G>A (p.Gly78Ser)
|
rs1755029530
|
0.00001
|
NM_006790.3(MYOT):c.372del (p.Ala125fs)
|
rs781353247
|
0.00001
|
NM_006790.3(MYOT):c.392C>A (p.Ala131Glu)
|
rs982468554
|
0.00001
|
NM_006790.3(MYOT):c.398C>T (p.Pro133Leu)
|
rs779568205
|
0.00001
|
NM_006790.3(MYOT):c.424A>G (p.Ile142Val)
|
rs771238896
|
0.00001
|
NM_006790.3(MYOT):c.464A>C (p.Glu155Ala)
|
rs148166751
|
0.00001
|
NM_006790.3(MYOT):c.511C>T (p.Leu171Phe)
|
rs997275341
|
0.00001
|
NM_006790.3(MYOT):c.524G>A (p.Gly175Glu)
|
rs1304612966
|
0.00001
|
NM_006790.3(MYOT):c.560G>A (p.Arg187His)
|
rs200273223
|
0.00001
|
NM_006790.3(MYOT):c.650A>G (p.His217Arg)
|
rs758565747
|
0.00001
|
NM_006790.3(MYOT):c.655C>T (p.Arg219Ter)
|
rs781249546
|
0.00001
|
NM_006790.3(MYOT):c.686G>A (p.Ser229Asn)
|
rs193920888
|
0.00001
|
NM_006790.3(MYOT):c.751C>T (p.Arg251Cys)
|
rs760118881
|
0.00001
|
NM_006790.3(MYOT):c.752G>A (p.Arg251His)
|
rs1477747475
|
0.00001
|
NM_006790.3(MYOT):c.816+5G>T
|
rs750433300
|
0.00001
|
NM_006790.3(MYOT):c.859G>A (p.Gly287Arg)
|
rs374221793
|
0.00001
|
NM_006790.3(MYOT):c.998C>T (p.Thr333Ile)
|
rs758194318
|
0.00001
|
NM_007078.3(LDB3):c.-20C>T
|
rs531819676
|
0.00001
|
NM_007078.3(LDB3):c.1016C>G (p.Ala339Gly)
|
rs764530865
|
0.00001
|
NM_007078.3(LDB3):c.1018G>C (p.Ala340Pro)
|
rs755329877
|
0.00001
|
NM_007078.3(LDB3):c.1094C>T (p.Ala365Val)
|
rs747011937
|
0.00001
|
NM_007078.3(LDB3):c.1129G>A (p.Ala377Thr)
|
rs794729061
|
0.00001
|
NM_007078.3(LDB3):c.1132C>T (p.Pro378Ser)
|
rs373546361
|
0.00001
|
NM_007078.3(LDB3):c.1147A>G (p.Ser383Gly)
|
rs752615115
|
0.00001
|
NM_007078.3(LDB3):c.1153A>G (p.Ser385Gly)
|
rs777547764
|
0.00001
|
NM_007078.3(LDB3):c.1168G>A (p.Ala390Thr)
|
rs748672176
|
0.00001
|
NM_007078.3(LDB3):c.11G>A (p.Ser4Asn)
|
rs766405051
|
0.00001
|
NM_007078.3(LDB3):c.1211G>A (p.Arg404Gln)
|
rs150868546
|
0.00001
|
NM_007078.3(LDB3):c.1269T>G (p.Asn423Lys)
|
rs375894985
|
0.00001
|
NM_007078.3(LDB3):c.1298C>T (p.Pro433Leu)
|
rs776138543
|
0.00001
|
NM_007078.3(LDB3):c.1313C>A (p.Thr438Asn)
|
rs767914340
|
0.00001
|
NM_007078.3(LDB3):c.139G>A (p.Asp47Asn)
|
rs397517212
|
0.00001
|
NM_007078.3(LDB3):c.13G>A (p.Val5Met)
|
rs773170985
|
0.00001
|
NM_007078.3(LDB3):c.1418C>A (p.Pro473His)
|
rs780427609
|
0.00001
|
NM_007078.3(LDB3):c.1421C>T (p.Ser474Leu)
|
rs1011836119
|
0.00001
|
NM_007078.3(LDB3):c.1446G>A (p.Ala482=)
|
rs745655908
|
0.00001
|
NM_007078.3(LDB3):c.1472T>A (p.Val491Glu)
|
rs139709036
|
0.00001
|
NM_007078.3(LDB3):c.1480G>A (p.Asp494Asn)
|
rs773233738
|
0.00001
|
NM_007078.3(LDB3):c.1486T>G (p.Phe496Val)
|
rs141652573
|
0.00001
|
NM_007078.3(LDB3):c.1497G>T (p.Lys499Asn)
|
rs1278770988
|
0.00001
|
NM_007078.3(LDB3):c.1502C>T (p.Ala501Val)
|
rs755362259
|
0.00001
|
NM_007078.3(LDB3):c.1556C>A (p.Pro519Gln)
|
rs1309491635
|
0.00001
|
NM_007078.3(LDB3):c.158A>G (p.Asp53Gly)
|
rs935307586
|
0.00001
|
NM_007078.3(LDB3):c.1633A>G (p.Ser545Gly)
|
rs1370639524
|
0.00001
|
NM_007078.3(LDB3):c.1664A>G (p.Asn555Ser)
|
rs760635362
|
0.00001
|
NM_007078.3(LDB3):c.1677-19C>T
|
rs749512075
|
0.00001
|
NM_007078.3(LDB3):c.1690G>A (p.Val564Ile)
|
rs962296772
|
0.00001
|
NM_007078.3(LDB3):c.172G>A (p.Asp58Asn)
|
rs730880127
|
0.00001
|
NM_007078.3(LDB3):c.1736A>G (p.Tyr579Cys)
|
rs199749907
|
0.00001
|
NM_007078.3(LDB3):c.1748C>G (p.Ser583Cys)
|
rs1263835922
|
0.00001
|
NM_007078.3(LDB3):c.1786G>A (p.Val596Ile)
|
rs727503130
|
0.00001
|
NM_007078.3(LDB3):c.1798C>T (p.Arg600Ter)
|
rs727503132
|
0.00001
|
NM_007078.3(LDB3):c.1799G>A (p.Arg600Gln)
|
rs747523570
|
0.00001
|
NM_007078.3(LDB3):c.1805A>C (p.Tyr602Ser)
|
rs1349969494
|
0.00001
|
NM_007078.3(LDB3):c.1885T>C (p.Trp629Arg)
|
rs773554501
|
0.00001
|
NM_007078.3(LDB3):c.1894A>G (p.Thr632Ala)
|
rs770525232
|
0.00001
|
NM_007078.3(LDB3):c.1978G>A (p.Asp660Asn)
|
rs1442071380
|
0.00001
|
NM_007078.3(LDB3):c.2026G>A (p.Val676Met)
|
rs549994359
|
0.00001
|
NM_007078.3(LDB3):c.2037C>T (p.Gly679=)
|
rs754386652
|
0.00001
|
NM_007078.3(LDB3):c.2056C>G (p.Leu686Val)
|
rs910863988
|
0.00001
|
NM_007078.3(LDB3):c.2060G>A (p.Gly687Asp)
|
rs1230240655
|
0.00001
|
NM_007078.3(LDB3):c.2094+10T>C
|
rs769802374
|
0.00001
|
NM_007078.3(LDB3):c.2094+5G>A
|
rs1847251877
|
0.00001
|
NM_007078.3(LDB3):c.2119C>T (p.Gln707Ter)
|
rs771316707
|
0.00001
|
NM_007078.3(LDB3):c.2123C>T (p.Pro708Leu)
|
rs774815578
|
0.00001
|
NM_007078.3(LDB3):c.2135A>G (p.Lys712Arg)
|
rs1451712853
|
0.00001
|
NM_007078.3(LDB3):c.2142C>A (p.Asp714Glu)
|
rs1054918785
|
0.00001
|
NM_007078.3(LDB3):c.2164G>A (p.Ala722Thr)
|
rs727505129
|
0.00001
|
NM_007078.3(LDB3):c.236C>T (p.Thr79Ile)
|
rs397517221
|
0.00001
|
NM_007078.3(LDB3):c.254G>A (p.Arg85His)
|
rs200420174
|
0.00001
|
NM_007078.3(LDB3):c.269C>G (p.Ser90Cys)
|
rs765975330
|
0.00001
|
NM_007078.3(LDB3):c.272C>T (p.Thr91Met)
|
rs769237367
|
0.00001
|
NM_007078.3(LDB3):c.281C>T (p.Pro94Leu)
|
rs772912790
|
0.00001
|
NM_007078.3(LDB3):c.30C>G (p.Pro10=)
|
rs766817285
|
0.00001
|
NM_007078.3(LDB3):c.31G>A (p.Gly11Arg)
|
rs370493508
|
0.00001
|
NM_007078.3(LDB3):c.328G>A (p.Ala110Thr)
|
rs768737496
|
0.00001
|
NM_007078.3(LDB3):c.343G>A (p.Gly115Ser)
|
rs397517222
|
0.00001
|
NM_007078.3(LDB3):c.368G>A (p.Ser123Asn)
|
rs754266629
|
0.00001
|
NM_007078.3(LDB3):c.380G>A (p.Arg127Lys)
|
rs1365412037
|
0.00001
|
NM_007078.3(LDB3):c.395C>T (p.Thr132Ile)
|
rs146527589
|
0.00001
|
NM_007078.3(LDB3):c.415A>G (p.Arg139Gly)
|
rs199801766
|
0.00001
|
NM_007078.3(LDB3):c.433G>T (p.Ala145Ser)
|
rs758814399
|
0.00001
|
NM_007078.3(LDB3):c.437T>C (p.Phe146Ser)
|
rs1480923559
|
0.00001
|
NM_007078.3(LDB3):c.442C>T (p.Arg148Trp)
|
rs536186237
|
0.00001
|
NM_007078.3(LDB3):c.443G>A (p.Arg148Gln)
|
rs751254270
|
0.00001
|
NM_007078.3(LDB3):c.467C>T (p.Ala156Val)
|
rs1243384140
|
0.00001
|
NM_007078.3(LDB3):c.488C>G (p.Pro163Arg)
|
rs776608362
|
0.00001
|
NM_007078.3(LDB3):c.501C>A (p.Ser167Arg)
|
rs1183240131
|
0.00001
|
NM_007078.3(LDB3):c.536A>G (p.Asp179Gly)
|
rs794729058
|
0.00001
|
NM_007078.3(LDB3):c.54G>T (p.Gln18His)
|
rs149348427
|
0.00001
|
NM_007078.3(LDB3):c.56G>C (p.Gly19Ala)
|
rs753314972
|
0.00001
|
NM_007078.3(LDB3):c.575C>T (p.Pro192Leu)
|
rs758182278
|
0.00001
|
NM_007078.3(LDB3):c.592C>T (p.Pro198Ser)
|
rs1060501318
|
0.00001
|
NM_007078.3(LDB3):c.617C>T (p.Thr206Ile)
|
rs121908337
|
0.00001
|
NM_007078.3(LDB3):c.650G>A (p.Ser217Asn)
|
rs1246502816
|
0.00001
|
NM_007078.3(LDB3):c.689+3902G>A
|
rs1057521576
|
0.00001
|
NM_007078.3(LDB3):c.716T>C (p.Val239Ala)
|
rs774595610
|
0.00001
|
NM_007078.3(LDB3):c.723C>T (p.Ser241=)
|
rs200580597
|
0.00001
|
NM_007078.3(LDB3):c.72C>A (p.Asn24Lys)
|
rs1323002546
|
0.00001
|
NM_007078.3(LDB3):c.742G>A (p.Ala248Thr)
|
rs369419493
|
0.00001
|
NM_007078.3(LDB3):c.778G>A (p.Ala260Thr)
|
rs777637914
|
0.00001
|
NM_007078.3(LDB3):c.782A>C (p.Asp261Ala)
|
rs1285921374
|
0.00001
|
NM_007078.3(LDB3):c.790G>A (p.Ala264Thr)
|
rs146414300
|
0.00001
|
NM_007078.3(LDB3):c.796C>T (p.Arg266Cys)
|
rs776803568
|
0.00001
|
NM_007078.3(LDB3):c.817C>T (p.Arg273Cys)
|
rs141116920
|
0.00001
|
NM_007078.3(LDB3):c.827G>A (p.Arg276His)
|
rs774519585
|
0.00001
|
NM_007078.3(LDB3):c.829A>T (p.Ile277Phe)
|
rs78680509
|
0.00001
|
NM_007078.3(LDB3):c.845C>T (p.Thr282Met)
|
rs199811186
|
0.00001
|
NM_007078.3(LDB3):c.858C>T (p.Phe286=)
|
rs764056994
|
0.00001
|
NM_007078.3(LDB3):c.859A>G (p.Met287Val)
|
rs1353972543
|
0.00001
|
NM_007078.3(LDB3):c.869C>T (p.Pro290Leu)
|
rs775180716
|
0.00001
|
NM_007078.3(LDB3):c.890G>A (p.Arg297Lys)
|
rs1266510625
|
0.00001
|
NM_007078.3(LDB3):c.892T>G (p.Ser298Ala)
|
rs953198544
|
0.00001
|
NM_007078.3(LDB3):c.896+5G>A
|
rs368078924
|
0.00001
|
NM_007078.3(LDB3):c.897-1_897del
|
rs1354084230
|
0.00001
|
NM_007078.3(LDB3):c.897-6719C>T
|
rs975012427
|
0.00001
|
NM_007078.3(LDB3):c.897-6861G>A
|
rs1458669091
|
0.00001
|
NM_007078.3(LDB3):c.914C>A (p.Ala305Glu)
|
rs544084461
|
0.00001
|
NM_007078.3(LDB3):c.917C>T (p.Pro306Leu)
|
rs955622381
|
0.00001
|
NM_007078.3(LDB3):c.91C>T (p.Arg31Trp)
|
rs367792378
|
0.00001
|
NM_007078.3(LDB3):c.94-9T>C
|
rs1282721488
|
0.00001
|
NM_007078.3(LDB3):c.940A>G (p.Thr314Ala)
|
rs756910859
|
0.00001
|
NM_007078.3(LDB3):c.955G>A (p.Ala319Thr)
|
rs151219713
|
0.00001
|
NM_007078.3(LDB3):c.991G>A (p.Ala331Thr)
|
rs749520121
|
0.00001
|
NM_018834.6(MATR3):c.*1111T>C
|
rs772678059
|
0.00001
|
NM_018834.6(MATR3):c.*1891T>G
|
rs886060001
|
0.00001
|
NM_018834.6(MATR3):c.*2142G>A
|
rs1561950387
|
0.00001
|
NM_018834.6(MATR3):c.*493T>C
|
rs972728364
|
0.00001
|
NM_018834.6(MATR3):c.*60A>G
|
rs886059993
|
0.00001
|
NM_018834.6(MATR3):c.-5C>G
|
rs375381025
|
0.00001
|
NM_018834.6(MATR3):c.1139A>G (p.Asn380Ser)
|
rs948428305
|
0.00001
|
NM_018834.6(MATR3):c.1179A>G (p.Arg393=)
|
rs747566193
|
0.00001
|
NM_018834.6(MATR3):c.1187C>G (p.Thr396Ser)
|
rs1755320528
|
0.00001
|
NM_018834.6(MATR3):c.1235G>A (p.Arg412Lys)
|
rs1291862870
|
0.00001
|
NM_018834.6(MATR3):c.1348G>A (p.Ala450Thr)
|
rs779612686
|
0.00001
|
NM_018834.6(MATR3):c.1363A>G (p.Thr455Ala)
|
rs781213918
|
0.00001
|
NM_018834.6(MATR3):c.1435-10T>C
|
rs772340385
|
0.00001
|
NM_018834.6(MATR3):c.1464T>A (p.Phe488Leu)
|
rs777025841
|
0.00001
|
NM_018834.6(MATR3):c.1636A>G (p.Met546Val)
|
rs1412628714
|
0.00001
|
NM_018834.6(MATR3):c.1638G>A (p.Met546Ile)
|
rs748592981
|
0.00001
|
NM_018834.6(MATR3):c.1864A>G (p.Thr622Ala)
|
rs587777301
|
0.00001
|
NM_018834.6(MATR3):c.1874A>C (p.Lys625Thr)
|
rs1488614478
|
0.00001
|
NM_018834.6(MATR3):c.1879C>G (p.Gln627Glu)
|
rs772231433
|
0.00001
|
NM_018834.6(MATR3):c.1885_1887del (p.Glu629del)
|
rs1186297721
|
0.00001
|
NM_018834.6(MATR3):c.1949T>C (p.Met650Thr)
|
rs1176347654
|
0.00001
|
NM_018834.6(MATR3):c.1997C>T (p.Ala666Val)
|
rs1261252930
|
0.00001
|
NM_018834.6(MATR3):c.2120C>T (p.Ser707Leu)
|
rs1228960452
|
0.00001
|
NM_018834.6(MATR3):c.2155A>G (p.Lys719Glu)
|
rs759928245
|
0.00001
|
NM_018834.6(MATR3):c.2161G>A (p.Glu721Lys)
|
rs764645698
|
0.00001
|
NM_018834.6(MATR3):c.2180A>G (p.Asn727Ser)
|
rs1468138513
|
0.00001
|
NM_018834.6(MATR3):c.2213A>G (p.Glu738Gly)
|
rs538917496
|
0.00001
|
NM_018834.6(MATR3):c.2227C>T (p.Pro743Ser)
|
rs1452954379
|
0.00001
|
NM_018834.6(MATR3):c.2357C>G (p.Pro786Arg)
|
rs765284792
|
0.00001
|
NM_018834.6(MATR3):c.2372-3dup
|
rs1561945483
|
0.00001
|
NM_018834.6(MATR3):c.2507A>C (p.Lys836Thr)
|
rs912142064
|
0.00001
|
NM_018834.6(MATR3):c.256A>G (p.Ile86Val)
|
rs201277902
|
0.00001
|
NM_018834.6(MATR3):c.304C>T (p.Arg102Cys)
|
rs1327023414
|
0.00001
|
NM_018834.6(MATR3):c.305G>A (p.Arg102His)
|
rs886059988
|
0.00001
|
NM_018834.6(MATR3):c.322G>T (p.Ala108Ser)
|
rs745440760
|
0.00001
|
NM_018834.6(MATR3):c.325A>G (p.Ser109Gly)
|
rs1255035245
|
0.00001
|
NM_018834.6(MATR3):c.329A>C (p.Asn110Thr)
|
rs1433371817
|
0.00001
|
NM_018834.6(MATR3):c.344T>G (p.Phe115Cys)
|
rs587777300
|
0.00001
|
NM_018834.6(MATR3):c.393C>A (p.Asp131Glu)
|
rs761842979
|
0.00001
|
NM_018834.6(MATR3):c.689G>T (p.Cys230Phe)
|
rs200871699
|
0.00001
|
NM_018834.6(MATR3):c.769C>G (p.Pro257Ala)
|
rs774478774
|
0.00001
|
NM_018834.6(MATR3):c.827G>A (p.Ser276Asn)
|
rs762374587
|
0.00001
|
NM_018834.6(MATR3):c.898G>A (p.Val300Ile)
|
rs1307308858
|
0.00001
|
NM_018834.6(MATR3):c.960G>T (p.Gln320His)
|
rs773617455
|
0.00001
|
NM_022173.4(TIA1):c.1096C>T (p.Gln366Ter)
|
rs935618716
|
0.00001
|
NM_022173.4(TIA1):c.1108A>G (p.Met370Val)
|
rs752969561
|
0.00001
|
NM_022173.4(TIA1):c.143A>G (p.Tyr48Cys)
|
rs370430518
|
0.00001
|
NM_022173.4(TIA1):c.398C>T (p.Ser133Leu)
|
rs375191972
|
0.00001
|
NM_022173.4(TIA1):c.41T>G (p.Leu14Arg)
|
rs1688810005
|
0.00001
|
NM_022173.4(TIA1):c.683A>T (p.Gln228Leu)
|
rs763253859
|
0.00001
|
NM_022173.4(TIA1):c.692G>A (p.Arg231His)
|
rs1379346485
|
0.00001
|
NM_022173.4(TIA1):c.928G>A (p.Gly310Ser)
|
rs774668067
|
0.00001
|
NM_022173.4(TIA1):c.971C>G (p.Pro324Arg)
|
rs767406040
|
0.00001
|
NM_022173.4(TIA1):c.985G>A (p.Val329Ile)
|
rs780894412
|
0.00001
|
NM_033337.3(CAV3):c.143C>G (p.Pro48Arg)
|
rs1060502317
|
0.00001
|
NM_033337.3(CAV3):c.221G>A (p.Arg74His)
|
rs201893621
|
0.00001
|
NM_033337.3(CAV3):c.247C>T (p.Pro83Ser)
|
rs137881434
|
0.00001
|
NM_033337.3(CAV3):c.310G>A (p.Val104Met)
|
rs944503745
|
0.00001
|
NM_033337.3(CAV3):c.310G>C (p.Val104Leu)
|
rs944503745
|
0.00001
|
NM_133379.5(TTN):c.10546T>A (p.Leu3516Ile)
|
rs139322919
|
0.00001
|
NM_133379.5(TTN):c.11360del (p.Glu3787fs)
|
rs1309605744
|
0.00001
|
NM_133379.5(TTN):c.11834C>T (p.Ser3945Leu)
|
rs200512885
|
0.00001
|
NM_133379.5(TTN):c.14139C>T (p.Asp4713=)
|
rs371388583
|
0.00001
|
NM_133379.5(TTN):c.16353C>G (p.Tyr5451Ter)
|
rs397517821
|
0.00001
|
NM_133379.5(TTN):c.16529del (p.Val5510fs)
|
rs774991940
|
0.00001
|
NC_000002.11:g.(?_70439851)_(70458006_?)dup
|
|
|
NC_000002.11:g.(?_70439851)_(70475562_?)dup
|
|
|
NC_000002.12:g.(?_70212709)_(70248440_?)del
|
|
|
NC_000005.10:g.137881974_137881979del
|
|
|
NC_000005.9:g.(?_137216485)_(137221922_?)del
|
|
|
NC_000005.9:g.(?_138608441)_(138668366_?)del
|
|
|
NC_000005.9:g.(?_138643105)_(138644036_?)dup
|
|
|
NC_000005.9:g.(?_138643105)_(138665084_?)dup
|
|
|
NC_000007.13:g.(?_128470672)_(128498597_?)dup
|
|
|
NC_000007.13:g.(?_128470692)_(128482448_?)dup
|
|
|
NC_000007.13:g.(?_128470692)_(128694824_?)dup
|
|
|
NC_000007.13:g.(?_128498042)_(128498291_?)dup
|
|
|
NC_000007.13:g.(?_128498042)_(128498577_?)dup
|
|
|
NC_000007.13:g.(?_128498042)_(128498597_?)dup
|
|
|
NC_000007.13:g.(?_128498052)_(128498587_?)dup
|
|
|
NC_000007.14:g.(?_128830628)_(128858533_?)dup
|
|
|
NC_000007.14:g.(?_128835316)_(128858533_?)dup
|
|
|
NC_000007.14:g.(?_128842221)_(128850084_?)del
|
|
|
NC_000007.14:g.(?_128852581)_(128858533_?)del
|
|
|
NC_000007.14:g.(?_128858326)_(128858533_?)del
|
|
|
NC_000010.10:g.(?_88428443)_(88428547_?)dup
|
|
|
NC_000010.10:g.(?_88428449)_(88428561_?)dup
|
|
|
NC_000010.10:g.(?_88428449)_(88492733_?)del
|
|
|
NC_000010.10:g.(?_88469642)_(88469827_?)del
|
|
|
NC_000010.11:g.(?_86668564)_(86700053_?)del
|
|
|
NC_000010.11:g.(?_86668672)_(86710070_?)del
|
|
|
NM_001145809.2(MYH14):c.1979G>A (p.Gly660Asp)
|
rs1568504395
|
|
NM_001145809.2(MYH14):c.2272C>G (p.Arg758Gly)
|
|
|
NM_001145809.2(MYH14):c.2599C>T (p.Arg867Cys)
|
rs753356694
|
|
NM_001145809.2(MYH14):c.2929G>C (p.Glu977Gln)
|
|
|
NM_001145809.2(MYH14):c.3457G>A (p.Ala1153Thr)
|
rs2123394094
|
|
NM_001145809.2(MYH14):c.3820C>T (p.Arg1274Trp)
|
|
|
NM_001145809.2(MYH14):c.4582G>A (p.Glu1528Lys)
|
rs944541812
|
|
NM_001145809.2(MYH14):c.5041G>A (p.Glu1681Lys)
|
rs556548077
|
|
NM_001145809.2(MYH14):c.5281C>T (p.Arg1761Trp)
|
rs116035034
|
|
NM_001145809.2(MYH14):c.5368C>T (p.Arg1790Cys)
|
|
|
NM_001145809.2(MYH14):c.5384G>A (p.Arg1795His)
|
rs567922009
|
|
NM_001145809.2(MYH14):c.5848G>A (p.Glu1950Lys)
|
rs774096368
|
|
NM_001145809.2(MYH14):c.6034G>A (p.Glu2012Lys)
|
|
|
NM_001145809.2(MYH14):c.6097G>C (p.Ala2033Pro)
|
rs2036794429
|
|
NM_001145809.2(MYH14):c.6101A>C (p.His2034Pro)
|
rs1215273187
|
|
NM_001145809.2(MYH14):c.6108_6111del (p.Gln2036fs)
|
rs2036795216
|
|
NM_001145809.2(MYH14):c.91C>T (p.Pro31Ser)
|
rs590722
|
|
NM_001267550.2(TTN):c.*274G>A
|
rs886055215
|
|
NM_001267550.2(TTN):c.*913C>A
|
rs886055213
|
|
NM_001267550.2(TTN):c.-225G>A
|
rs886055312
|
|
NM_001267550.2(TTN):c.-38T>G
|
rs886055309
|
|
NM_001267550.2(TTN):c.-76A>G
|
rs1575064539
|
|
NM_001267550.2(TTN):c.100172-17dup
|
rs397517782
|
|
NM_001267550.2(TTN):c.100244C>T (p.Pro33415Leu)
|
rs72648282
|
|
NM_001267550.2(TTN):c.100693G>C (p.Ala33565Pro)
|
rs373484505
|
|
NM_001267550.2(TTN):c.100766-10del
|
rs749872538
|
|
NM_001267550.2(TTN):c.100982G>A (p.Arg33661Lys)
|
rs201857158
|
|
NM_001267550.2(TTN):c.101038A>G (p.Lys33680Glu)
|
rs886055226
|
|
NM_001267550.2(TTN):c.101050C>G (p.Leu33684Val)
|
rs775824162
|
|
NM_001267550.2(TTN):c.101068C>A (p.Pro33690Thr)
|
rs886055225
|
|
NM_001267550.2(TTN):c.10115-6T>C
|
rs886055298
|
|
NM_001267550.2(TTN):c.101369T>A (p.Met33790Lys)
|
rs876658097
|
|
NM_001267550.2(TTN):c.10178C>T (p.Thr3393Ile)
|
rs752227022
|
|
NM_001267550.2(TTN):c.102193T>C (p.Ser34065Pro)
|
rs1690528772
|
|
NM_001267550.2(TTN):c.10255A>G (p.Ser3419Gly)
|
rs1266502582
|
|
NM_001267550.2(TTN):c.102705T>C (p.Tyr34235=)
|
rs1690297479
|
|
NM_001267550.2(TTN):c.102913AAG[1] (p.Lys34306del)
|
rs762798421
|
|
NM_001267550.2(TTN):c.103450G>C (p.Ala34484Pro)
|
rs754949098
|
|
NM_001267550.2(TTN):c.103739T>G (p.Met34580Arg)
|
rs775137392
|
|
NM_001267550.2(TTN):c.103924_103926del (p.Pro34642del)
|
rs771366227
|
|
NM_001267550.2(TTN):c.103938_103945delinsCTCTTGGG (p.Tyr34647_Arg34649delinsSerTrpGly)
|
rs1689696229
|
|
NM_001267550.2(TTN):c.104072T>C (p.Phe34691Ser)
|
rs886055223
|
|
NM_001267550.2(TTN):c.104638G>C (p.Glu34880Gln)
|
rs1404462483
|
|
NM_001267550.2(TTN):c.104660C>T (p.Pro34887Leu)
|
rs774131659
|
|
NM_001267550.2(TTN):c.104936G>A (p.Gly34979Asp)
|
rs376634193
|
|
NM_001267550.2(TTN):c.105185A>C (p.Tyr35062Ser)
|
rs1689071281
|
|
NM_001267550.2(TTN):c.105257T>A (p.Met35086Lys)
|
rs886055221
|
|
NM_001267550.2(TTN):c.105326T>C (p.Leu35109Ser)
|
rs1689008949
|
|
NM_001267550.2(TTN):c.105514_105516del (p.Ser35172del)
|
rs573843615
|
|
NM_001267550.2(TTN):c.105545A>G (p.Tyr35182Cys)
|
rs878913505
|
|
NM_001267550.2(TTN):c.105737C>T (p.Ala35246Val)
|
rs370476812
|
|
NM_001267550.2(TTN):c.105772C>A (p.Pro35258Thr)
|
rs886055220
|
|
NM_001267550.2(TTN):c.105897G>C (p.Glu35299Asp)
|
rs886055219
|
|
NM_001267550.2(TTN):c.105952A>T (p.Thr35318Ser)
|
rs1688710616
|
|
NM_001267550.2(TTN):c.106018G>A (p.Gly35340Ser)
|
rs373610666
|
|
NM_001267550.2(TTN):c.106066G>A (p.Glu35356Lys)
|
rs886055218
|
|
NM_001267550.2(TTN):c.106578_106580delinsAGT (p.Glu35527Val)
|
rs386653129
|
|
NM_001267550.2(TTN):c.106723G>A (p.Glu35575Lys)
|
rs886055217
|
|
NM_001267550.2(TTN):c.106801G>A (p.Glu35601Lys)
|
rs1558972236
|
|
NM_001267550.2(TTN):c.106919T>C (p.Leu35640Pro)
|
rs750550267
|
|
NM_001267550.2(TTN):c.106957T>G (p.Tyr35653Asp)
|
rs886042500
|
|
NM_001267550.2(TTN):c.107181C>G (p.Gly35727=)
|
rs762859509
|
|
NM_001267550.2(TTN):c.107290G>T (p.Ala35764Ser)
|
rs879048717
|
|
NM_001267550.2(TTN):c.107348G>T (p.Cys35783Phe)
|
rs1473450556
|
|
NM_001267550.2(TTN):c.107392C>T (p.Pro35798Ser)
|
rs780544430
|
|
NM_001267550.2(TTN):c.107564G>T (p.Ser35855Ile)
|
rs1053387515
|
|
NM_001267550.2(TTN):c.10770G>C (p.Glu3590Asp)
|
rs377401997
|
|
NM_001267550.2(TTN):c.107797G>C (p.Gly35933Arg)
|
rs1575170417
|
|
NM_001267550.2(TTN):c.107965C>T (p.Arg35989Ter)
|
rs770506970
|
|
NM_001267550.2(TTN):c.10799C>A (p.Ser3600Ter)
|
rs374300381
|
|
NM_001267550.2(TTN):c.11008A>C (p.Thr3670Pro)
|
rs794729589
|
|
NM_001267550.2(TTN):c.11209G>A (p.Asp3737Asn)
|
rs1243794346
|
|
NM_001267550.2(TTN):c.11444del (p.Lys3815fs)
|
rs1574099951
|
|
NM_001267550.2(TTN):c.1186G>A (p.Ala396Thr)
|
rs200052202
|
|
NM_001267550.2(TTN):c.11881G>A (p.Val3961Met)
|
rs1017307763
|
|
NM_001267550.2(TTN):c.12113C>G (p.Thr4038Ser)
|
rs758968807
|
|
NM_001267550.2(TTN):c.1224T>C (p.Ala408=)
|
rs2093688642
|
|
NM_001267550.2(TTN):c.12319del (p.Leu4107fs)
|
rs2154318463
|
|
NM_001267550.2(TTN):c.12614T>C (p.Leu4205Ser)
|
rs1057518931
|
|
NM_001267550.2(TTN):c.1301A>T (p.Asp434Val)
|
rs1478114976
|
|
NM_001267550.2(TTN):c.13127dup (p.Asp4376fs)
|
rs2082227467
|
|
NM_001267550.2(TTN):c.13128C>A (p.Asp4376Glu)
|
rs759726422
|
|
NM_001267550.2(TTN):c.1360_1365delinsCATCCA (p.Thr454_Thr455delinsHisPro)
|
rs2154355944
|
|
NM_001267550.2(TTN):c.1393G>T (p.Glu465Ter)
|
rs1313233245
|
|
NM_001267550.2(TTN):c.14153A>G (p.Lys4718Arg)
|
rs753558755
|
|
NM_001267550.2(TTN):c.14392C>T (p.Leu4798Phe)
|
rs2081388048
|
|
NM_001267550.2(TTN):c.14860G>C (p.Asp4954His)
|
rs1443901302
|
|
NM_001267550.2(TTN):c.15497-2A>G
|
rs1232334931
|
|
NM_001267550.2(TTN):c.15497-4C>G
|
rs2080975329
|
|
NM_001267550.2(TTN):c.15942T>C (p.Asn5314=)
|
rs1311178060
|
|
NM_001267550.2(TTN):c.16212G>C (p.Arg5404Ser)
|
rs758704167
|
|
NM_001267550.2(TTN):c.16563A>C (p.Thr5521=)
|
rs886055297
|
|
NM_001267550.2(TTN):c.1662+5G>A
|
rs1021479898
|
|
NM_001267550.2(TTN):c.16776G>A (p.Met5592Ile)
|
rs879188937
|
|
NM_001267550.2(TTN):c.1683A>G (p.Ile561Met)
|
rs1321890564
|
|
NM_001267550.2(TTN):c.1688C>T (p.Ala563Val)
|
rs2093449486
|
|
NM_001267550.2(TTN):c.1696A>G (p.Met566Val)
|
rs987302368
|
|
NM_001267550.2(TTN):c.17278del (p.Thr5760fs)
|
rs2080494323
|
|
NM_001267550.2(TTN):c.17357G>T (p.Ser5786Ile)
|
rs1553924253
|
|
NM_001267550.2(TTN):c.17364C>T (p.Tyr5788=)
|
rs2080475152
|
|
NM_001267550.2(TTN):c.17396A>G (p.Lys5799Arg)
|
rs572678771
|
|
NM_001267550.2(TTN):c.17558C>T (p.Thr5853Ile)
|
rs2154308873
|
|
NM_001267550.2(TTN):c.18055_18056del (p.Gln6019fs)
|
rs2080219754
|
|
NM_001267550.2(TTN):c.18089A>G (p.Gln6030Arg)
|
rs1560784359
|
|
NM_001267550.2(TTN):c.18364T>C (p.Ser6122Pro)
|
rs2080087332
|
|
NM_001267550.2(TTN):c.18472G>A (p.Asp6158Asn)
|
rs2080068286
|
|
NM_001267550.2(TTN):c.18493A>G (p.Ile6165Val)
|
rs886055296
|
|
NM_001267550.2(TTN):c.18673A>G (p.Thr6225Ala)
|
rs794727818
|
|
NM_001267550.2(TTN):c.18690C>T (p.Val6230=)
|
rs754536598
|
|
NM_001267550.2(TTN):c.1923A>C (p.Gln641His)
|
rs886055308
|
|
NM_001267550.2(TTN):c.19357G>A (p.Gly6453Ser)
|
rs374964612
|
|
NM_001267550.2(TTN):c.19370T>C (p.Phe6457Ser)
|
rs2079785463
|
|
NM_001267550.2(TTN):c.19567A>G (p.Thr6523Ala)
|
rs1560756818
|
|
NM_001267550.2(TTN):c.20326G>A (p.Ala6776Thr)
|
rs886055295
|
|
NM_001267550.2(TTN):c.20772G>T (p.Lys6924Asn)
|
rs369993514
|
|
NM_001267550.2(TTN):c.21292G>A (p.Val7098Ile)
|
rs878978917
|
|
NM_001267550.2(TTN):c.21506A>C (p.Asn7169Thr)
|
rs786205314
|
|
NM_001267550.2(TTN):c.22384_22385delinsCG (p.Asp7462Arg)
|
rs1060500493
|
|
NM_001267550.2(TTN):c.22528+12C>T
|
rs756012779
|
|
NM_001267550.2(TTN):c.22659G>A (p.Lys7553=)
|
rs2078449618
|
|
NM_001267550.2(TTN):c.22696G>A (p.Val7566Met)
|
rs2078438102
|
|
NM_001267550.2(TTN):c.22724_22725dup (p.Lys7576fs)
|
rs2154301477
|
|
NM_001267550.2(TTN):c.22741G>T (p.Asp7581Tyr)
|
rs1433348204
|
|
NM_001267550.2(TTN):c.22789_22790del (p.Met7597fs)
|
rs1211248610
|
|
NM_001267550.2(TTN):c.2300G>A (p.Arg767Lys)
|
|
|
NM_001267550.2(TTN):c.23098+1G>T
|
rs2154300949
|
|
NM_001267550.2(TTN):c.23147G>T (p.Gly7716Val)
|
rs751284978
|
|
NM_001267550.2(TTN):c.23201_23212dup (p.Val7734_Lys7737dup)
|
rs1451740768
|
|
NM_001267550.2(TTN):c.23601A>G (p.Ile7867Met)
|
rs1334032406
|
|
NM_001267550.2(TTN):c.23654T>C (p.Val7885Ala)
|
rs2078098721
|
|
NM_001267550.2(TTN):c.23660-13CTT[2]
|
rs563250569
|
|
NM_001267550.2(TTN):c.24528A>G (p.Arg8176=)
|
rs1162009739
|
|
NM_001267550.2(TTN):c.24784+6T>G
|
rs1560640894
|
|
NM_001267550.2(TTN):c.24891G>C (p.Trp8297Cys)
|
rs727504205
|
|
NM_001267550.2(TTN):c.24891G>T (p.Trp8297Cys)
|
rs727504205
|
|
NM_001267550.2(TTN):c.25196T>C (p.Leu8399Pro)
|
rs2077698375
|
|
NM_001267550.2(TTN):c.2522C>A (p.Thr841Lys)
|
rs750195208
|
|
NM_001267550.2(TTN):c.25521A>G (p.Val8507=)
|
rs886055293
|
|
NM_001267550.2(TTN):c.25699A>G (p.Thr8567Ala)
|
rs777832511
|
|
NM_001267550.2(TTN):c.26012C>T (p.Pro8671Leu)
|
rs2077292301
|
|
NM_001267550.2(TTN):c.26189T>A (p.Ile8730Asn)
|
rs1060500488
|
|
NM_001267550.2(TTN):c.26597A>G (p.Asp8866Gly)
|
rs2077094217
|
|
NM_001267550.2(TTN):c.26618A>G (p.Asp8873Gly)
|
rs776032171
|
|
NM_001267550.2(TTN):c.26656G>A (p.Gly8886Ser)
|
rs72648991
|
|
NM_001267550.2(TTN):c.26719C>G (p.Pro8907Ala)
|
rs764261158
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[11]
|
rs71393436
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[9]
|
rs71393436
|
|
NM_001267550.2(TTN):c.26949A>T (p.Leu8983Phe)
|
rs878969676
|
|
NM_001267550.2(TTN):c.27152G>C (p.Ser9051Thr)
|
rs2076871733
|
|
NM_001267550.2(TTN):c.27328+19C>G
|
rs974890499
|
|
NM_001267550.2(TTN):c.27532G>A (p.Asp9178Asn)
|
rs727504202
|
|
NM_001267550.2(TTN):c.2758C>T (p.His920Tyr)
|
rs886055307
|
|
NM_001267550.2(TTN):c.27709T>C (p.Ser9237Pro)
|
rs766638714
|
|
NM_001267550.2(TTN):c.2775+1G>T
|
rs1057346353
|
|
NM_001267550.2(TTN):c.28240G>T (p.Ala9414Ser)
|
rs794729635
|
|
NM_001267550.2(TTN):c.28317T>C (p.Ser9439=)
|
rs886055290
|
|
NM_001267550.2(TTN):c.28353C>G (p.Ser9451Arg)
|
rs777096848
|
|
NM_001267550.2(TTN):c.28354G>C (p.Ala9452Pro)
|
rs527663092
|
|
NM_001267550.2(TTN):c.28399T>C (p.Tyr9467His)
|
rs2076528608
|
|
NM_001267550.2(TTN):c.29153T>G (p.Ile9718Ser)
|
rs4893852
|
|
NM_001267550.2(TTN):c.29376G>A (p.Lys9792=)
|
rs1560529237
|
|
NM_001267550.2(TTN):c.29786A>G (p.Glu9929Gly)
|
rs1340062320
|
|
NM_001267550.2(TTN):c.30455G>A (p.Arg10152Gln)
|
rs375796685
|
|
NM_001267550.2(TTN):c.30456G>C (p.Arg10152=)
|
rs764333790
|
|
NM_001267550.2(TTN):c.30608C>G (p.Pro10203Arg)
|
rs1344215902
|
|
NM_001267550.2(TTN):c.30683-3del
|
rs368277751
|
|
NM_001267550.2(TTN):c.30694G>T (p.Ala10232Ser)
|
rs747294929
|
|
NM_001267550.2(TTN):c.3071T>G (p.Val1024Gly)
|
rs879097187
|
|
NM_001267550.2(TTN):c.30754+1G>T
|
rs914288774
|
|
NM_001267550.2(TTN):c.30803-14T>C
|
rs2073693398
|
|
NM_001267550.2(TTN):c.30978A>G (p.Val10326=)
|
rs2073654294
|
|
NM_001267550.2(TTN):c.31207+5G>A
|
rs876658051
|
|
NM_001267550.2(TTN):c.31255C>T (p.Pro10419Ser)
|
rs397517537
|
|
NM_001267550.2(TTN):c.31348+14C>T
|
rs2073303724
|
|
NM_001267550.2(TTN):c.31530G>T (p.Lys10510Asn)
|
rs778911890
|
|
NM_001267550.2(TTN):c.3165-9T>C
|
rs886055306
|
|
NM_001267550.2(TTN):c.31757C>G (p.Pro10586Arg)
|
rs200459347
|
|
NM_001267550.2(TTN):c.31757C>T (p.Pro10586Leu)
|
rs200459347
|
|
NM_001267550.2(TTN):c.31857A>G (p.Val10619=)
|
rs886055286
|
|
NM_001267550.2(TTN):c.31871T>C (p.Val10624Ala)
|
rs2071792935
|
|
NM_001267550.2(TTN):c.3197A>T (p.Asp1066Val)
|
rs886055305
|
|
NM_001267550.2(TTN):c.32054C>T (p.Ala10685Val)
|
rs794729407
|
|
NM_001267550.2(TTN):c.32311G>A (p.Val10771Met)
|
rs549877654
|
|
NM_001267550.2(TTN):c.32371G>C (p.Val10791Leu)
|
rs765062133
|
|
NM_001267550.2(TTN):c.3241G>A (p.Ala1081Thr)
|
rs55914517
|
|
NM_001267550.2(TTN):c.32750C>A (p.Pro10917Gln)
|
rs73973137
|
|
NM_001267550.2(TTN):c.32872C>A (p.Pro10958Thr)
|
rs2069920810
|
|
NM_001267550.2(TTN):c.32887+1G>T
|
rs546105899
|
|
NM_001267550.2(TTN):c.33001G>A (p.Glu11001Lys)
|
|
|
NM_001267550.2(TTN):c.3331C>T (p.Pro1111Ser)
|
rs727504210
|
|
NM_001267550.2(TTN):c.33382C>G (p.Pro11128Ala)
|
rs772242510
|
|
NM_001267550.2(TTN):c.33418+2T>A
|
rs779749654
|
|
NM_001267550.2(TTN):c.33473T>C (p.Val11158Ala)
|
rs1441498569
|
|
NM_001267550.2(TTN):c.33754C>T (p.Pro11252Ser)
|
rs886055283
|
|
NM_001267550.2(TTN):c.337A>G (p.Met113Val)
|
rs1060500430
|
|
NM_001267550.2(TTN):c.33826+7G>A
|
rs752099208
|
|
NM_001267550.2(TTN):c.33910+3A>G
|
|
|
NM_001267550.2(TTN):c.34015G>A (p.Val11339Ile)
|
rs886055282
|
|
NM_001267550.2(TTN):c.34207G>C (p.Glu11403Gln)
|
rs878921943
|
|
NM_001267550.2(TTN):c.34241AAG[2] (p.Glu11416del)
|
rs397517549
|
|
NM_001267550.2(TTN):c.34248A>C (p.Glu11416Asp)
|
rs780920687
|
|
NM_001267550.2(TTN):c.34499dup (p.Pro11501fs)
|
rs1560284392
|
|
NM_001267550.2(TTN):c.34786+1G>T
|
rs879010418
|
|
NM_001267550.2(TTN):c.34801C>T (p.Pro11601Ser)
|
rs1013759400
|
|
NM_001267550.2(TTN):c.36087_36090del (p.Ser12030fs)
|
rs2154260181
|
|
NM_001267550.2(TTN):c.36267_36280+16del
|
rs745871962
|
|
NM_001267550.2(TTN):c.36790+5G>T
|
rs752204534
|
|
NM_001267550.2(TTN):c.3695A>T (p.Asp1232Val)
|
rs576019235
|
|
NM_001267550.2(TTN):c.36982A>G (p.Thr12328Ala)
|
rs146313925
|
|
NM_001267550.2(TTN):c.37178dup (p.Pro12394fs)
|
rs2064831878
|
|
NM_001267550.2(TTN):c.37447C>G (p.Pro12483Ala)
|
rs1060500552
|
|
NM_001267550.2(TTN):c.37616_37627+12del
|
rs1560149416
|
|
NM_001267550.2(TTN):c.37702G>A (p.Ala12568Thr)
|
rs1060500468
|
|
NM_001267550.2(TTN):c.37711G>A (p.Val12571Met)
|
rs1577039412
|
|
NM_001267550.2(TTN):c.38131G>T (p.Val12711Leu)
|
rs202075225
|
|
NM_001267550.2(TTN):c.38230G>A (p.Glu12744Lys)
|
rs1553777033
|
|
NM_001267550.2(TTN):c.38660del (p.Lys12887fs)
|
rs761617432
|
|
NM_001267550.2(TTN):c.38919del (p.Leu12974fs)
|
rs1359574718
|
|
NM_001267550.2(TTN):c.39282TCC[1] (p.Pro13097del)
|
rs727503631
|
|
NM_001267550.2(TTN):c.39407C>T (p.Pro13136Leu)
|
rs1060500460
|
|
NM_001267550.2(TTN):c.39464-15T>C
|
rs2062964886
|
|
NM_001267550.2(TTN):c.39539del (p.Pro13180fs)
|
rs2062944024
|
|
NM_001267550.2(TTN):c.39818-4_39821delinsA
|
rs2062659844
|
|
NM_001267550.2(TTN):c.40408+8del
|
rs727504922
|
|
NM_001267550.2(TTN):c.40576GAA[3] (p.Glu13529del)
|
rs727504199
|
|
NM_001267550.2(TTN):c.40712A>T (p.Glu13571Val)
|
rs1190002260
|
|
NM_001267550.2(TTN):c.40963G>A (p.Glu13655Lys)
|
rs727504198
|
|
NM_001267550.2(TTN):c.41468C>G (p.Pro13823Arg)
|
rs2060403983
|
|
NM_001267550.2(TTN):c.41503C>T (p.Arg13835Trp)
|
rs886055278
|
|
NM_001267550.2(TTN):c.41609-2A>C
|
rs730880244
|
|
NM_001267550.2(TTN):c.42046G>A (p.Gly14016Ser)
|
rs367751077
|
|
NM_001267550.2(TTN):c.42103C>T (p.Leu14035Phe)
|
rs1433887768
|
|
NM_001267550.2(TTN):c.42430T>A (p.Phe14144Ile)
|
rs1359996660
|
|
NM_001267550.2(TTN):c.42524T>G (p.Phe14175Cys)
|
rs575813993
|
|
NM_001267550.2(TTN):c.4270C>T (p.Pro1424Ser)
|
rs772479207
|
|
NM_001267550.2(TTN):c.4319G>T (p.Gly1440Val)
|
rs150579194
|
|
NM_001267550.2(TTN):c.43211A>C (p.Lys14404Thr)
|
rs1296402152
|
|
NM_001267550.2(TTN):c.43422A>T (p.Glu14474Asp)
|
rs998106657
|
|
NM_001267550.2(TTN):c.43800A>C (p.Lys14600Asn)
|
rs769967388
|
|
NM_001267550.2(TTN):c.43913A>G (p.Lys14638Arg)
|
rs878896650
|
|
NM_001267550.2(TTN):c.43939G>C (p.Ala14647Pro)
|
rs2059746777
|
|
NM_001267550.2(TTN):c.440C>G (p.Ser147Cys)
|
rs2094006092
|
|
NM_001267550.2(TTN):c.44204A>G (p.Asn14735Ser)
|
rs763464756
|
|
NM_001267550.2(TTN):c.44281+5G>A
|
rs2059634223
|
|
NM_001267550.2(TTN):c.44373T>C (p.Asp14791=)
|
rs772552324
|
|
NM_001267550.2(TTN):c.44375T>C (p.Ile14792Thr)
|
rs747654057
|
|
NM_001267550.2(TTN):c.44413C>G (p.Pro14805Ala)
|
rs753926213
|
|
NM_001267550.2(TTN):c.44467A>G (p.Arg14823Gly)
|
rs886055277
|
|
NM_001267550.2(TTN):c.44481AGA[1] (p.Glu14828del)
|
rs727505315
|
|
NM_001267550.2(TTN):c.44519T>A (p.Phe14840Tyr)
|
rs886055276
|
|
NM_001267550.2(TTN):c.44815+14T>C
|
rs2058737403
|
|
NM_001267550.2(TTN):c.44913+10dup
|
rs745700983
|
|
NM_001267550.2(TTN):c.44913G>C (p.Lys14971Asn)
|
rs757693661
|
|
NM_001267550.2(TTN):c.44999T>C (p.Ile15000Thr)
|
rs886055275
|
|
NM_001267550.2(TTN):c.45001A>C (p.Asn15001His)
|
rs373109469
|
|
NM_001267550.2(TTN):c.4506C>T (p.Thr1502=)
|
rs185660585
|
|
NM_001267550.2(TTN):c.45725G>T (p.Arg15242Ile)
|
rs140795503
|
|
NM_001267550.2(TTN):c.45746A>G (p.Asp15249Gly)
|
rs2058157979
|
|
NM_001267550.2(TTN):c.45897G>C (p.Glu15299Asp)
|
rs760431926
|
|
NM_001267550.2(TTN):c.45942G>T (p.Met15314Ile)
|
rs2058108323
|
|
NM_001267550.2(TTN):c.46044A>C (p.Ser15348=)
|
rs886055273
|
|
NM_001267550.2(TTN):c.46065G>C (p.Lys15355Asn)
|
rs397517583
|
|
NM_001267550.2(TTN):c.46078_46092del (p.Ile15360_Gly15364del)
|
rs727505075
|
|
NM_001267550.2(TTN):c.46172C>T (p.Thr15391Ile)
|
rs775807236
|
|
NM_001267550.2(TTN):c.46226T>C (p.Val15409Ala)
|
|
|
NM_001267550.2(TTN):c.46354T>G (p.Cys15452Gly)
|
rs2058039119
|
|
NM_001267550.2(TTN):c.46569T>A (p.Asp15523Glu)
|
rs1553713980
|
|
NM_001267550.2(TTN):c.46773T>C (p.Tyr15591=)
|
rs397517586
|
|
NM_001267550.2(TTN):c.47123C>G (p.Thr15708Arg)
|
rs1553711574
|
|
NM_001267550.2(TTN):c.47875+4_47875+7del
|
rs753206674
|
|
NM_001267550.2(TTN):c.48024G>T (p.Arg16008=)
|
rs780824428
|
|
NM_001267550.2(TTN):c.48073A>T (p.Ser16025Cys)
|
rs1185643168
|
|
NM_001267550.2(TTN):c.48106A>C (p.Lys16036Gln)
|
rs886055271
|
|
NM_001267550.2(TTN):c.48160G>A (p.Ala16054Thr)
|
rs1576492463
|
|
NM_001267550.2(TTN):c.48451A>C (p.Thr16151Pro)
|
rs186497293
|
|
NM_001267550.2(TTN):c.48457G>T (p.Ala16153Ser)
|
rs876658063
|
|
NM_001267550.2(TTN):c.48671G>C (p.Trp16224Ser)
|
rs886055270
|
|
NM_001267550.2(TTN):c.48760+8T>C
|
rs2057012531
|
|
NM_001267550.2(TTN):c.49183A>G (p.Ser16395Gly)
|
rs2056873203
|
|
NM_001267550.2(TTN):c.49211C>T (p.Thr16404Ile)
|
rs2056867382
|
|
NM_001267550.2(TTN):c.49265T>C (p.Ile16422Thr)
|
rs746167353
|
|
NM_001267550.2(TTN):c.49436G>A (p.Gly16479Asp)
|
rs2056796893
|
|
NM_001267550.2(TTN):c.49648+5T>C
|
rs759948503
|
|
NM_001267550.2(TTN):c.49949A>G (p.Tyr16650Cys)
|
rs794727352
|
|
NM_001267550.2(TTN):c.50355-3T>C
|
rs1172932037
|
|
NM_001267550.2(TTN):c.5039T>A (p.Leu1680His)
|
rs886055304
|
|
NM_001267550.2(TTN):c.50869A>G (p.Ile16957Val)
|
rs372013419
|
|
NM_001267550.2(TTN):c.51379G>T (p.Val17127Phe)
|
rs397517603
|
|
NM_001267550.2(TTN):c.51672A>C (p.Ala17224=)
|
rs755746120
|
|
NM_001267550.2(TTN):c.5176C>A (p.Leu1726Ile)
|
rs2092262370
|
|
NM_001267550.2(TTN):c.51818G>A (p.Gly17273Glu)
|
|
|
NM_001267550.2(TTN):c.51859G>A (p.Val17287Ile)
|
rs1333508634
|
|
NM_001267550.2(TTN):c.51885G>T (p.Lys17295Asn)
|
rs72632861
|
|
NM_001267550.2(TTN):c.52062C>A (p.Asp17354Glu)
|
rs886055269
|
|
NM_001267550.2(TTN):c.52428G>A (p.Lys17476=)
|
rs886055268
|
|
NM_001267550.2(TTN):c.52709C>T (p.Pro17570Leu)
|
rs2055350149
|
|
NM_001267550.2(TTN):c.53100T>C (p.Pro17700=)
|
rs373140387
|
|
NM_001267550.2(TTN):c.53122_53123delinsGT (p.Lys17708Val)
|
rs886042743
|
|
NM_001267550.2(TTN):c.53236G>A (p.Ala17746Thr)
|
rs886055266
|
|
NM_001267550.2(TTN):c.53322T>G (p.Val17774=)
|
rs886055265
|
|
NM_001267550.2(TTN):c.53758A>G (p.Thr17920Ala)
|
|
|
NM_001267550.2(TTN):c.53881+4C>A
|
rs187632918
|
|
NM_001267550.2(TTN):c.54263C>T (p.Ala18088Val)
|
rs2054396232
|
|
NM_001267550.2(TTN):c.54320C>G (p.Ala18107Gly)
|
rs794729457
|
|
NM_001267550.2(TTN):c.54449G>A (p.Ser18150Asn)
|
rs886055264
|
|
NM_001267550.2(TTN):c.54469A>G (p.Lys18157Glu)
|
rs886055263
|
|
NM_001267550.2(TTN):c.54636T>C (p.Tyr18212=)
|
rs397517620
|
|
NM_001267550.2(TTN):c.54674G>T (p.Gly18225Val)
|
rs886038866
|
|
NM_001267550.2(TTN):c.5479G>A (p.Ala1827Thr)
|
rs141213991
|
|
NM_001267550.2(TTN):c.5483T>G (p.Leu1828Arg)
|
rs2092226818
|
|
NM_001267550.2(TTN):c.55393G>T (p.Ala18465Ser)
|
rs899078606
|
|
NM_001267550.2(TTN):c.55732+5G>C
|
rs878854377
|
|
NM_001267550.2(TTN):c.55909C>T (p.Arg18637Cys)
|
rs374151130
|
|
NM_001267550.2(TTN):c.56286T>C (p.Tyr18762=)
|
rs886055262
|
|
NM_001267550.2(TTN):c.56396C>T (p.Ala18799Val)
|
rs753746652
|
|
NM_001267550.2(TTN):c.56595T>C (p.Tyr18865=)
|
rs886055261
|
|
NM_001267550.2(TTN):c.56685C>T (p.Ser18895=)
|
rs375403059
|
|
NM_001267550.2(TTN):c.56855G>T (p.Gly18952Val)
|
rs762735652
|
|
NM_001267550.2(TTN):c.56941G>A (p.Ala18981Thr)
|
rs760651904
|
|
NM_001267550.2(TTN):c.56986A>C (p.Lys18996Gln)
|
|
|
NM_001267550.2(TTN):c.57083AAG[2] (p.Glu19030del)
|
rs749887998
|
|
NM_001267550.2(TTN):c.57387T>G (p.Asn19129Lys)
|
rs375305621
|
|
NM_001267550.2(TTN):c.58037T>C (p.Val19346Ala)
|
rs754793079
|
|
NM_001267550.2(TTN):c.58299T>A (p.Thr19433=)
|
rs778334134
|
|
NM_001267550.2(TTN):c.58399T>A (p.Ser19467Thr)
|
rs920055688
|
|
NM_001267550.2(TTN):c.58433-15T>G
|
rs2050786898
|
|
NM_001267550.2(TTN):c.58639G>A (p.Gly19547Arg)
|
rs886055260
|
|
NM_001267550.2(TTN):c.58726C>T (p.Arg19576Cys)
|
rs779755661
|
|
NM_001267550.2(TTN):c.58984A>G (p.Ile19662Val)
|
rs886055259
|
|
NM_001267550.2(TTN):c.59031A>G (p.Pro19677=)
|
rs886042123
|
|
NM_001267550.2(TTN):c.59035+6G>A
|
rs753714590
|
|
NM_001267550.2(TTN):c.59200C>T (p.Pro19734Ser)
|
rs563889482
|
|
NM_001267550.2(TTN):c.59240T>G (p.Leu19747Arg)
|
rs2154185954
|
|
NM_001267550.2(TTN):c.5953A>G (p.Ile1985Val)
|
rs886055303
|
|
NM_001267550.2(TTN):c.59570T>C (p.Leu19857Ser)
|
rs547180437
|
|
NM_001267550.2(TTN):c.59707G>A (p.Asp19903Asn)
|
rs374163882
|
|
NM_001267550.2(TTN):c.60050AAG[2] (p.Glu20019del)
|
rs886055257
|
|
NM_001267550.2(TTN):c.60192T>C (p.Thr20064=)
|
rs1215674180
|
|
NM_001267550.2(TTN):c.60345T>A (p.Asp20115Glu)
|
rs376618165
|
|
NM_001267550.2(TTN):c.60472G>A (p.Gly20158Ser)
|
rs375009570
|
|
NM_001267550.2(TTN):c.60811C>A (p.Pro20271Thr)
|
rs886055256
|
|
NM_001267550.2(TTN):c.60844G>C (p.Asp20282His)
|
rs2050065045
|
|
NM_001267550.2(TTN):c.60988T>C (p.Phe20330Leu)
|
rs2050031384
|
|
NM_001267550.2(TTN):c.60991A>G (p.Arg20331Gly)
|
rs1226541281
|
|
NM_001267550.2(TTN):c.6151A>G (p.Lys2051Glu)
|
rs1393006247
|
|
NM_001267550.2(TTN):c.61670A>G (p.His20557Arg)
|
rs1472565206
|
|
NM_001267550.2(TTN):c.62044A>G (p.Lys20682Glu)
|
rs2049804283
|
|
NM_001267550.2(TTN):c.62165G>A (p.Ser20722Asn)
|
rs568728579
|
|
NM_001267550.2(TTN):c.62272G>A (p.Glu20758Lys)
|
rs794729470
|
|
NM_001267550.2(TTN):c.62834G>A (p.Gly20945Asp)
|
rs2049635543
|
|
NM_001267550.2(TTN):c.6292C>T (p.Arg2098Trp)
|
rs763722868
|
|
NM_001267550.2(TTN):c.63009G>C (p.Lys21003Asn)
|
rs794729472
|
|
NM_001267550.2(TTN):c.63096T>A (p.His21032Gln)
|
rs1559561109
|
|
NM_001267550.2(TTN):c.63269A>T (p.Tyr21090Phe)
|
rs377480514
|
|
NM_001267550.2(TTN):c.63272_63298dup (p.Asp21091_Tyr21099dup)
|
rs750904641
|
|
NM_001267550.2(TTN):c.64685C>A (p.Pro21562His)
|
rs1213776805
|
|
NM_001267550.2(TTN):c.64965C>G (p.Phe21655Leu)
|
rs886055255
|
|
NM_001267550.2(TTN):c.65062G>A (p.Gly21688Arg)
|
rs372661193
|
|
NM_001267550.2(TTN):c.65206G>T (p.Ala21736Ser)
|
rs1320436212
|
|
NM_001267550.2(TTN):c.65633G>C (p.Gly21878Ala)
|
rs767001973
|
|
NM_001267550.2(TTN):c.66318C>G (p.Asn22106Lys)
|
rs771219209
|
|
NM_001267550.2(TTN):c.66376T>C (p.Tyr22126His)
|
rs1447894010
|
|
NM_001267550.2(TTN):c.66416G>A (p.Gly22139Asp)
|
rs1559507734
|
|
NM_001267550.2(TTN):c.66565A>G (p.Ile22189Val)
|
rs886055254
|
|
NM_001267550.2(TTN):c.66985G>A (p.Ala22329Thr)
|
rs886055253
|
|
NM_001267550.2(TTN):c.67056T>C (p.Leu22352=)
|
rs747715690
|
|
NM_001267550.2(TTN):c.6713C>G (p.Thr2238Arg)
|
rs201284459
|
|
NM_001267550.2(TTN):c.67229A>C (p.Lys22410Thr)
|
rs1559493839
|
|
NM_001267550.2(TTN):c.6768G>A (p.Thr2256=)
|
rs886055302
|
|
NM_001267550.2(TTN):c.67856G>A (p.Gly22619Glu)
|
rs886055252
|
|
NM_001267550.2(TTN):c.6816A>T (p.Glu2272Asp)
|
rs1554002953
|
|
NM_001267550.2(TTN):c.68498C>T (p.Ser22833Leu)
|
rs876658077
|
|
NM_001267550.2(TTN):c.69095A>T (p.His23032Leu)
|
rs886055251
|
|
NM_001267550.2(TTN):c.69331A>G (p.Ile23111Val)
|
rs1398776954
|
|
NM_001267550.2(TTN):c.69490G>A (p.Val23164Met)
|
rs755341733
|
|
NM_001267550.2(TTN):c.69837T>A (p.His23279Gln)
|
rs752879532
|
|
NM_001267550.2(TTN):c.70112G>C (p.Arg23371Pro)
|
rs767208489
|
|
NM_001267550.2(TTN):c.70597C>T (p.Pro23533Ser)
|
rs886055250
|
|
NM_001267550.2(TTN):c.70813G>C (p.Val23605Leu)
|
rs368325616
|
|
NM_001267550.2(TTN):c.71544T>G (p.His23848Gln)
|
|
|
NM_001267550.2(TTN):c.71612T>C (p.Ile23871Thr)
|
rs770250820
|
|
NM_001267550.2(TTN):c.71956G>A (p.Val23986Ile)
|
rs754373279
|
|
NM_001267550.2(TTN):c.71C>T (p.Thr24Ile)
|
rs536235994
|
|
NM_001267550.2(TTN):c.7208T>C (p.Ile2403Thr)
|
rs760895168
|
|
NM_001267550.2(TTN):c.72166C>A (p.Arg24056Ser)
|
rs372662393
|
|
NM_001267550.2(TTN):c.72497G>A (p.Ser24166Asn)
|
rs886055248
|
|
NM_001267550.2(TTN):c.72521C>T (p.Ala24174Val)
|
rs1709019921
|
|
NM_001267550.2(TTN):c.7300C>T (p.Leu2434Phe)
|
rs879004898
|
|
NM_001267550.2(TTN):c.73110_73111delinsCA (p.Trp24370_Gln24371delinsCysLys)
|
rs1553608093
|
|
NM_001267550.2(TTN):c.73563C>G (p.Gly24521=)
|
rs756809007
|
|
NM_001267550.2(TTN):c.7368G>C (p.Val2456=)
|
rs886055301
|
|
NM_001267550.2(TTN):c.73776G>A (p.Arg24592=)
|
rs886055247
|
|
NM_001267550.2(TTN):c.7403T>C (p.Val2468Ala)
|
rs886055300
|
|
NM_001267550.2(TTN):c.7408G>A (p.Val2470Ile)
|
rs1228257559
|
|
NM_001267550.2(TTN):c.74372C>T (p.Thr24791Ile)
|
rs1055906361
|
|
NM_001267550.2(TTN):c.74508T>C (p.Asp24836=)
|
rs1060503924
|
|
NM_001267550.2(TTN):c.74573T>C (p.Ile24858Thr)
|
rs1708197097
|
|
NM_001267550.2(TTN):c.7498C>T (p.Gln2500Ter)
|
rs1561253718
|
|
NM_001267550.2(TTN):c.75255T>C (p.Asn25085=)
|
rs1707950573
|
|
NM_001267550.2(TTN):c.752A>G (p.His251Arg)
|
rs587782983
|
|
NM_001267550.2(TTN):c.75311A>T (p.Asp25104Val)
|
rs534319705
|
|
NM_001267550.2(TTN):c.75489C>T (p.Thr25163=)
|
rs1234238096
|
|
NM_001267550.2(TTN):c.75634G>C (p.Val25212Leu)
|
rs1707781335
|
|
NM_001267550.2(TTN):c.75706G>A (p.Asp25236Asn)
|
rs1707754880
|
|
NM_001267550.2(TTN):c.76296T>C (p.Asp25432=)
|
rs868081432
|
|
NM_001267550.2(TTN):c.76349G>A (p.Gly25450Asp)
|
rs748296171
|
|
NM_001267550.2(TTN):c.76707C>A (p.Asp25569Glu)
|
rs1002726225
|
|
NM_001267550.2(TTN):c.7705G>A (p.Asp2569Asn)
|
rs2091797961
|
|
NM_001267550.2(TTN):c.77779A>C (p.Ile25927Leu)
|
rs780196850
|
|
NM_001267550.2(TTN):c.77818GTT[1] (p.Val25941del)
|
rs754571796
|
|
NM_001267550.2(TTN):c.77911T>C (p.Tyr25971His)
|
rs1432174919
|
|
NM_001267550.2(TTN):c.78021G>A (p.Met26007Ile)
|
rs786205378
|
|
NM_001267550.2(TTN):c.7807A>G (p.Thr2603Ala)
|
rs775528928
|
|
NM_001267550.2(TTN):c.78193G>A (p.Val26065Met)
|
rs1371536406
|
|
NM_001267550.2(TTN):c.7862C>T (p.Ala2621Val)
|
rs753441258
|
|
NM_001267550.2(TTN):c.78676G>C (p.Glu26226Gln)
|
rs754878387
|
|
NM_001267550.2(TTN):c.79106T>C (p.Val26369Ala)
|
rs1706144836
|
|
NM_001267550.2(TTN):c.79109G>A (p.Gly26370Glu)
|
rs727505061
|
|
NM_001267550.2(TTN):c.79148C>T (p.Pro26383Leu)
|
rs1377015752
|
|
NM_001267550.2(TTN):c.79862C>A (p.Thr26621Lys)
|
rs3731746
|
|
NM_001267550.2(TTN):c.80252C>T (p.Ala26751Val)
|
rs912122514
|
|
NM_001267550.2(TTN):c.80484C>G (p.Ser26828Arg)
|
rs886055243
|
|
NM_001267550.2(TTN):c.80890A>G (p.Asn26964Asp)
|
rs886055242
|
|
NM_001267550.2(TTN):c.81017G>T (p.Ser27006Ile)
|
rs886055241
|
|
NM_001267550.2(TTN):c.8131A>C (p.Lys2711Gln)
|
rs727504735
|
|
NM_001267550.2(TTN):c.81373A>C (p.Thr27125Pro)
|
rs1362825687
|
|
NM_001267550.2(TTN):c.81389C>T (p.Thr27130Ile)
|
rs757768218
|
|
NM_001267550.2(TTN):c.81431A>G (p.Glu27144Gly)
|
rs794729512
|
|
NM_001267550.2(TTN):c.81600C>G (p.Ser27200Arg)
|
rs773107849
|
|
NM_001267550.2(TTN):c.81852_81857dup (p.Ile27285_Val27286dup)
|
rs773439628
|
|
NM_001267550.2(TTN):c.82658G>C (p.Gly27553Ala)
|
rs753766297
|
|
NM_001267550.2(TTN):c.82720C>T (p.Pro27574Ser)
|
rs2154161353
|
|
NM_001267550.2(TTN):c.8290C>G (p.Leu2764Val)
|
|
|
NM_001267550.2(TTN):c.83165T>G (p.Ile27722Arg)
|
rs794729515
|
|
NM_001267550.2(TTN):c.83192T>C (p.Leu27731Ser)
|
rs886055238
|
|
NM_001267550.2(TTN):c.83416C>G (p.Arg27806Gly)
|
rs886055237
|
|
NM_001267550.2(TTN):c.83592C>G (p.Pro27864=)
|
rs760755965
|
|
NM_001267550.2(TTN):c.8373C>T (p.His2791=)
|
rs566816279
|
|
NM_001267550.2(TTN):c.84196G>A (p.Glu28066Lys)
|
rs1703825463
|
|
NM_001267550.2(TTN):c.84338C>T (p.Ser28113Phe)
|
rs753201539
|
|
NM_001267550.2(TTN):c.85243T>C (p.Leu28415=)
|
rs1703401045
|
|
NM_001267550.2(TTN):c.85449C>T (p.Ile28483=)
|
rs758811159
|
|
NM_001267550.2(TTN):c.85541A>T (p.Lys28514Met)
|
rs886055234
|
|
NM_001267550.2(TTN):c.86345C>T (p.Pro28782Leu)
|
rs561319491
|
|
NM_001267550.2(TTN):c.86456A>C (p.Asp28819Ala)
|
|
|
NM_001267550.2(TTN):c.86497_86498delinsTT (p.Ala28833Phe)
|
rs794729519
|
|
NM_001267550.2(TTN):c.86822-8T>G
|
|
|
NM_001267550.2(TTN):c.87329C>T (p.Ala29110Val)
|
rs763682832
|
|
NM_001267550.2(TTN):c.87343T>C (p.Tyr29115His)
|
rs1181280302
|
|
NM_001267550.2(TTN):c.87616GAA[1] (p.Glu29207del)
|
rs753636173
|
|
NM_001267550.2(TTN):c.87781C>T (p.Pro29261Ser)
|
|
|
NM_001267550.2(TTN):c.88010-2dup
|
rs1701799962
|
|
NM_001267550.2(TTN):c.88047G>A (p.Lys29349=)
|
rs748102856
|
|
NM_001267550.2(TTN):c.88280G>A (p.Gly29427Glu)
|
rs1188741659
|
|
NM_001267550.2(TTN):c.88774A>G (p.Ile29592Val)
|
rs1700602244
|
|
NM_001267550.2(TTN):c.88781C>A (p.Thr29594Lys)
|
rs1553545836
|
|
NM_001267550.2(TTN):c.88851C>T (p.Gly29617=)
|
rs201241167
|
|
NM_001267550.2(TTN):c.88852G>A (p.Glu29618Lys)
|
rs879222602
|
|
NM_001267550.2(TTN):c.8894C>A (p.Thr2965Lys)
|
rs1221486073
|
|
NM_001267550.2(TTN):c.88951A>G (p.Thr29651Ala)
|
rs879233366
|
|
NM_001267550.2(TTN):c.89018G>T (p.Arg29673Leu)
|
rs200639218
|
|
NM_001267550.2(TTN):c.89392T>A (p.Ser29798Thr)
|
rs886055232
|
|
NM_001267550.2(TTN):c.89479C>G (p.Pro29827Ala)
|
rs201620815
|
|
NM_001267550.2(TTN):c.89567A>G (p.Asp29856Gly)
|
rs1700105269
|
|
NM_001267550.2(TTN):c.89711G>T (p.Arg29904Leu)
|
rs397517744
|
|
NM_001267550.2(TTN):c.89716G>A (p.Asp29906Asn)
|
rs770892973
|
|
NM_001267550.2(TTN):c.90244A>G (p.Ile30082Val)
|
rs777636306
|
|
NM_001267550.2(TTN):c.90535C>G (p.Arg30179Gly)
|
rs769360937
|
|
NM_001267550.2(TTN):c.90715G>A (p.Ala30239Thr)
|
rs879126335
|
|
NM_001267550.2(TTN):c.90834T>A (p.Ser30278Arg)
|
rs397517751
|
|
NM_001267550.2(TTN):c.9116C>A (p.Thr3039Asn)
|
rs774523194
|
|
NM_001267550.2(TTN):c.91316T>C (p.Ile30439Thr)
|
rs561319486
|
|
NM_001267550.2(TTN):c.915-7dup
|
rs730880351
|
|
NM_001267550.2(TTN):c.91514T>C (p.Ile30505Thr)
|
rs1699227127
|
|
NM_001267550.2(TTN):c.91871T>C (p.Val30624Ala)
|
rs886055231
|
|
NM_001267550.2(TTN):c.92336G>C (p.Arg30779Thr)
|
rs1289817129
|
|
NM_001267550.2(TTN):c.92645C>A (p.Thr30882Lys)
|
rs1698296911
|
|
NM_001267550.2(TTN):c.92991T>C (p.Thr30997=)
|
rs1553531443
|
|
NM_001267550.2(TTN):c.93043G>C (p.Asp31015His)
|
|
|
NM_001267550.2(TTN):c.93071C>T (p.Thr31024Ile)
|
|
|
NM_001267550.2(TTN):c.93704T>C (p.Ile31235Thr)
|
rs1246425366
|
|
NM_001267550.2(TTN):c.93988T>C (p.Trp31330Arg)
|
rs1553527043
|
|
NM_001267550.2(TTN):c.94039G>C (p.Glu31347Gln)
|
rs886055230
|
|
NM_001267550.2(TTN):c.94239C>A (p.Thr31413=)
|
rs1042759526
|
|
NM_001267550.2(TTN):c.94282C>A (p.Arg31428Ser)
|
rs190282707
|
|
NM_001267550.2(TTN):c.94771G>C (p.Gly31591Arg)
|
rs1697305563
|
|
NM_001267550.2(TTN):c.94864G>A (p.Gly31622Ser)
|
rs1385680314
|
|
NM_001267550.2(TTN):c.95163A>G (p.Thr31721=)
|
rs376944872
|
|
NM_001267550.2(TTN):c.95187G>C (p.Trp31729Cys)
|
rs869320742
|
|
NM_001267550.2(TTN):c.95342G>A (p.Arg31781Gln)
|
rs748984928
|
|
NM_001267550.2(TTN):c.95490A>G (p.Lys31830=)
|
rs1696713042
|
|
NM_001267550.2(TTN):c.95968G>A (p.Val31990Met)
|
rs727503541
|
|
NM_001267550.2(TTN):c.96491A>G (p.Tyr32164Cys)
|
rs886055229
|
|
NM_001267550.2(TTN):c.96506T>C (p.Leu32169Pro)
|
rs2154143527
|
|
NM_001267550.2(TTN):c.96887C>T (p.Thr32296Ile)
|
rs773279450
|
|
NM_001267550.2(TTN):c.96979G>A (p.Val32327Met)
|
rs956461857
|
|
NM_001267550.2(TTN):c.97045G>A (p.Glu32349Lys)
|
rs1695237277
|
|
NM_001267550.2(TTN):c.97388G>A (p.Arg32463Lys)
|
rs1257117887
|
|
NM_001267550.2(TTN):c.97410T>C (p.Tyr32470=)
|
rs886055228
|
|
NM_001267550.2(TTN):c.97592T>A (p.Val32531Glu)
|
rs1060500477
|
|
NM_001267550.2(TTN):c.9761A>C (p.Lys3254Thr)
|
rs766499138
|
|
NM_001267550.2(TTN):c.97900G>A (p.Gly32634Ser)
|
rs1693772565
|
|
NM_001267550.2(TTN):c.98216C>A (p.Thr32739Asn)
|
rs886042542
|
|
NM_001267550.2(TTN):c.9839C>A (p.Ser3280Tyr)
|
rs747768723
|
|
NM_001267550.2(TTN):c.98524G>T (p.Ala32842Ser)
|
rs199647622
|
|
NM_001267550.2(TTN):c.98617G>A (p.Glu32873Lys)
|
rs1575354700
|
|
NM_001267550.2(TTN):c.9875A>G (p.Gln3292Arg)
|
rs794729586
|
|
NM_001267550.2(TTN):c.98959_98960delinsCT (p.Ser32987Leu)
|
rs727504588
|
|
NM_001267550.2(TTN):c.99197C>G (p.Ala33066Gly)
|
rs1172364516
|
|
NM_001267550.2(TTN):c.99371T>C (p.Ile33124Thr)
|
|
|
NM_001267550.2(TTN):c.99567C>T (p.Leu33189=)
|
rs745708104
|
|
NM_001267550.2(TTN):c.99716del (p.Asn33239fs)
|
|
|
NM_001267550.2(TTN):c.99787A>G (p.Thr33263Ala)
|
rs369648529
|
|
NM_001267550.2(TTN):c.99814C>T (p.Leu33272Phe)
|
rs397517780
|
|
NM_001267550.2(TTN):c.99830G>A (p.Gly33277Glu)
|
rs397517781
|
|
NM_001267550.2(TTN):c.99877_99878delinsGT (p.Lys33293Val)
|
rs2154138101
|
|
NM_001267550.2(TTN):c.99903A>G (p.Glu33301=)
|
rs886055227
|
|
NM_001289808.2(CRYAB):c.*39T>C
|
rs782808506
|
|
NM_001289808.2(CRYAB):c.115C>T (p.Pro39Ser)
|
rs145768025
|
|
NM_001289808.2(CRYAB):c.16C>T (p.His6Tyr)
|
rs794728982
|
|
NM_001289808.2(CRYAB):c.176G>A (p.Ser59Asn)
|
rs1555165546
|
|
NM_001289808.2(CRYAB):c.319C>T (p.Arg107Cys)
|
rs782520163
|
|
NM_001289808.2(CRYAB):c.31C>G (p.Arg11Gly)
|
rs781902168
|
|
NM_001289808.2(CRYAB):c.41T>C (p.Phe14Ser)
|
rs1555165594
|
|
NM_001289808.2(CRYAB):c.482T>C (p.Ile161Thr)
|
rs1592506005
|
|
NM_001289808.2(CRYAB):c.503C>G (p.Ala168Gly)
|
rs2137378339
|
|
NM_001289808.2(CRYAB):c.519del (p.Lys174fs)
|
rs1566402173
|
|
NM_001368067.1(LDB3):c.322-1G>A
|
|
|
NM_001368067.1(LDB3):c.323T>C (p.Val108Ala)
|
|
|
NM_001368067.1(LDB3):c.326T>G (p.Val109Gly)
|
rs2132390366
|
|
NM_001368067.1(LDB3):c.332A>G (p.Asn111Ser)
|
rs1845427971
|
|
NM_001368067.1(LDB3):c.338C>T (p.Pro113Leu)
|
|
|
NM_001368067.1(LDB3):c.344+2T>C
|
rs1264291601
|
|
NM_001368067.1(LDB3):c.349G>C (p.Asp117His)
|
rs121908338
|
|
NM_001368067.1(LDB3):c.353A>C (p.Tyr118Ser)
|
rs1845519689
|
|
NM_001368067.1(LDB3):c.355C>T (p.Gln119Ter)
|
rs1564639205
|
|
NM_001368067.1(LDB3):c.358G>A (p.Glu120Lys)
|
rs773370724
|
|
NM_001368067.1(LDB3):c.364T>A (p.Phe122Ile)
|
rs1845520743
|
|
NM_001368067.1(LDB3):c.369C>A (p.Asn123Lys)
|
|
|
NM_001368067.1(LDB3):c.371C>T (p.Pro124Leu)
|
|
|
NM_001368067.1(LDB3):c.374G>A (p.Ser125Asn)
|
|
|
NM_001368067.1(LDB3):c.382A>C (p.Lys128Gln)
|
rs2132396809
|
|
NM_001368067.1(LDB3):c.389C>T (p.Ser130Leu)
|
|
|
NM_001368067.1(LDB3):c.405C>G (p.His135Gln)
|
rs928294708
|
|
NM_001368067.1(LDB3):c.410C>A (p.Pro137His)
|
|
|
NM_001368067.1(LDB3):c.413T>A (p.Ile138Asn)
|
|
|
NM_001368067.1(LDB3):c.433G>C (p.Gly145Arg)
|
|
|
NM_001368067.1(LDB3):c.452A>G (p.His151Arg)
|
|
|
NM_001368067.1(LDB3):c.456G>T (p.Ala152=)
|
rs371708921
|
|
NM_001368067.1(LDB3):c.467C>T (p.Thr156Met)
|
rs778658354
|
|
NM_001368067.1(LDB3):c.472A>G (p.Ile158Val)
|
rs1845528164
|
|
NM_001368067.1(LDB3):c.480G>A (p.Met160Ile)
|
rs1413446799
|
|
NM_001368067.1(LDB3):c.490G>A (p.Asp164Asn)
|
|
|
NM_001368067.1(LDB3):c.491A>G (p.Asp164Gly)
|
|
|
NM_001368067.1(LDB3):c.503A>T (p.Asp168Val)
|
|
|
NM_001368067.1(LDB3):c.511G>T (p.Ala171Ser)
|
rs373632943
|
|
NM_001368067.1(LDB3):c.772G>A (p.Glu258Lys)
|
rs868365512
|
|
NM_001368067.1(LDB3):c.775C>T (p.Arg259Cys)
|
|
|
NM_001368067.1(LDB3):c.779A>C (p.Asn260Thr)
|
|
|
NM_001368067.1(LDB3):c.779A>G (p.Asn260Ser)
|
rs1299041306
|
|
NM_001368067.1(LDB3):c.779A>T (p.Asn260Ile)
|
rs1299041306
|
|
NM_001368067.1(LDB3):c.790T>A (p.Phe264Ile)
|
|
|
NM_001368067.1(LDB3):c.802C>G (p.Arg268Gly)
|
rs121908335
|
|
NM_001368067.1(LDB3):c.810G>A (p.Trp270Ter)
|
rs1428065968
|
|
NM_001368067.1(LDB3):c.829C>A (p.Gln277Lys)
|
|
|
NM_001368067.1(LDB3):c.830A>C (p.Gln277Pro)
|
rs1589656313
|
|
NM_001368067.1(LDB3):c.841G>A (p.Val281Ile)
|
rs1846156698
|
|
NM_001368067.1(LDB3):c.847del (p.Ser283fs)
|
|
|
NM_001368067.1(LDB3):c.848G>A (p.Ser283Asn)
|
|
|
NM_001458.5(FLNC):c.1000C>T (p.Arg334Cys)
|
rs372497581
|
|
NM_001458.5(FLNC):c.1003A>C (p.Thr335Pro)
|
|
|
NM_001458.5(FLNC):c.1003A>G (p.Thr335Ala)
|
|
|
NM_001458.5(FLNC):c.1007A>G (p.Tyr336Cys)
|
rs748723761
|
|
NM_001458.5(FLNC):c.100T>G (p.Trp34Gly)
|
|
|
NM_001458.5(FLNC):c.1012G>A (p.Val338Ile)
|
rs2128934331
|
|
NM_001458.5(FLNC):c.1040T>C (p.Leu347Ser)
|
rs1554397631
|
|
NM_001458.5(FLNC):c.1042C>T (p.His348Tyr)
|
rs2128934341
|
|
NM_001458.5(FLNC):c.1043A>C (p.His348Pro)
|
|
|
NM_001458.5(FLNC):c.1047+3A>G
|
|
|
NM_001458.5(FLNC):c.1049T>C (p.Val350Ala)
|
|
|
NM_001458.5(FLNC):c.1064C>T (p.Ala355Val)
|
rs1231559702
|
|
NM_001458.5(FLNC):c.1066G>A (p.Gly356Ser)
|
rs1808183705
|
|
NM_001458.5(FLNC):c.1067G>A (p.Gly356Asp)
|
|
|
NM_001458.5(FLNC):c.1076T>C (p.Ile359Thr)
|
|
|
NM_001458.5(FLNC):c.1087C>A (p.Pro363Thr)
|
rs2128934398
|
|
NM_001458.5(FLNC):c.1087C>T (p.Pro363Ser)
|
|
|
NM_001458.5(FLNC):c.109A>G (p.Ile37Val)
|
|
|
NM_001458.5(FLNC):c.1102G>C (p.Val368Leu)
|
rs781718076
|
|
NM_001458.5(FLNC):c.1106G>C (p.Gly369Ala)
|
rs754733061
|
|
NM_001458.5(FLNC):c.1106G>T (p.Gly369Val)
|
|
|
NM_001458.5(FLNC):c.110T>G (p.Ile37Ser)
|
|
|
NM_001458.5(FLNC):c.1120G>A (p.Asp374Asn)
|
|
|
NM_001458.5(FLNC):c.1129A>G (p.Lys377Glu)
|
rs1035933787
|
|
NM_001458.5(FLNC):c.1131G>C (p.Lys377Asn)
|
rs1396483415
|
|
NM_001458.5(FLNC):c.1135T>G (p.Ser379Ala)
|
rs746992457
|
|
NM_001458.5(FLNC):c.1141C>G (p.Arg381Gly)
|
rs770692923
|
|
NM_001458.5(FLNC):c.1156G>C (p.Glu386Gln)
|
rs1204536261
|
|
NM_001458.5(FLNC):c.1159C>T (p.Pro387Ser)
|
|
|
NM_001458.5(FLNC):c.1160C>G (p.Pro387Arg)
|
rs765434369
|
|
NM_001458.5(FLNC):c.1162G>C (p.Val388Leu)
|
rs1484540724
|
|
NM_001458.5(FLNC):c.1175C>A (p.Ala392Asp)
|
rs1808189981
|
|
NM_001458.5(FLNC):c.1187C>A (p.Thr396Asn)
|
rs2128934429
|
|
NM_001458.5(FLNC):c.1199T>C (p.Ile400Thr)
|
rs1562992604
|
|
NM_001458.5(FLNC):c.11A>G (p.Asn4Ser)
|
|
|
NM_001458.5(FLNC):c.1208C>A (p.Ala403Glu)
|
rs777199447
|
|
NM_001458.5(FLNC):c.1210+4G>A
|
rs2128934436
|
|
NM_001458.5(FLNC):c.1210+5G>A
|
rs770923888
|
|
NM_001458.5(FLNC):c.1222G>A (p.Gly408Ser)
|
rs2128934484
|
|
NM_001458.5(FLNC):c.1234G>C (p.Val412Leu)
|
|
|
NM_001458.5(FLNC):c.1242C>G (p.Ile414Met)
|
|
|
NM_001458.5(FLNC):c.1246G>A (p.Asp416Asn)
|
|
|
NM_001458.5(FLNC):c.1248C>A (p.Asp416Glu)
|
|
|
NM_001458.5(FLNC):c.1250C>A (p.Pro417Gln)
|
|
|
NM_001458.5(FLNC):c.1255G>A (p.Gly419Ser)
|
|
|
NM_001458.5(FLNC):c.1258C>G (p.Arg420Gly)
|
|
|
NM_001458.5(FLNC):c.125T>G (p.Phe42Cys)
|
rs777706683
|
|
NM_001458.5(FLNC):c.1265A>G (p.Asp422Gly)
|
|
|
NM_001458.5(FLNC):c.127A>C (p.Thr43Pro)
|
rs1807852947
|
|
NM_001458.5(FLNC):c.1282C>G (p.Leu428Val)
|
rs1585154042
|
|
NM_001458.5(FLNC):c.1286A>C (p.Glu429Ala)
|
rs1031308521
|
|
NM_001458.5(FLNC):c.1295G>T (p.Gly432Val)
|
rs750350780
|
|
NM_001458.5(FLNC):c.1301G>A (p.Ser434Asn)
|
rs1585154054
|
|
NM_001458.5(FLNC):c.1303A>G (p.Thr435Ala)
|
rs1808206478
|
|
NM_001458.5(FLNC):c.1309C>G (p.Arg437Gly)
|
rs374847180
|
|
NM_001458.5(FLNC):c.130C>T (p.Arg44Cys)
|
rs2128932137
|
|
NM_001458.5(FLNC):c.131G>C (p.Arg44Pro)
|
|
|
NM_001458.5(FLNC):c.131G>T (p.Arg44Leu)
|
rs1807853136
|
|
NM_001458.5(FLNC):c.1325C>A (p.Pro442His)
|
rs1554397822
|
|
NM_001458.5(FLNC):c.1331T>C (p.Met444Thr)
|
|
|
NM_001458.5(FLNC):c.1332G>A (p.Met444Ile)
|
rs1343786191
|
|
NM_001458.5(FLNC):c.133T>A (p.Trp45Arg)
|
|
|
NM_001458.5(FLNC):c.1349T>C (p.Val450Ala)
|
|
|
NM_001458.5(FLNC):c.1351C>T (p.His451Tyr)
|
|
|
NM_001458.5(FLNC):c.1352A>C (p.His451Pro)
|
rs1808209347
|
|
NM_001458.5(FLNC):c.1372C>A (p.Pro458Thr)
|
rs369747694
|
|
NM_001458.5(FLNC):c.1373C>G (p.Pro458Arg)
|
rs1808210779
|
|
NM_001458.5(FLNC):c.1382G>A (p.Arg461His)
|
rs377587489
|
|
NM_001458.5(FLNC):c.1382G>T (p.Arg461Leu)
|
rs377587489
|
|
NM_001458.5(FLNC):c.1394C>T (p.Pro465Leu)
|
|
|
NM_001458.5(FLNC):c.139A>G (p.Asn47Asp)
|
|
|
NM_001458.5(FLNC):c.13A>G (p.Ser5Gly)
|
rs2128932075
|
|
NM_001458.5(FLNC):c.1411G>A (p.Ala471Thr)
|
|
|
NM_001458.5(FLNC):c.1412-3T>C
|
|
|
NM_001458.5(FLNC):c.1415G>A (p.Cys472Tyr)
|
|
|
NM_001458.5(FLNC):c.1420C>T (p.Pro474Ser)
|
rs1562993431
|
|
NM_001458.5(FLNC):c.142_162dup (p.Glu48_Gly54dup)
|
rs1807853629
|
|
NM_001458.5(FLNC):c.1433G>C (p.Arg478Pro)
|
|
|
NM_001458.5(FLNC):c.1445G>A (p.Arg482Gln)
|
rs770337434
|
|
NM_001458.5(FLNC):c.1448G>A (p.Gly483Asp)
|
rs1562993476
|
|
NM_001458.5(FLNC):c.1454A>G (p.Gln485Arg)
|
rs1012536919
|
|
NM_001458.5(FLNC):c.1462G>A (p.Gly488Ser)
|
|
|
NM_001458.5(FLNC):c.1469G>T (p.Arg490Leu)
|
rs1046320257
|
|
NM_001458.5(FLNC):c.1471G>C (p.Val491Leu)
|
rs770264114
|
|
NM_001458.5(FLNC):c.1484C>G (p.Ala495Gly)
|
|
|
NM_001458.5(FLNC):c.1484C>T (p.Ala495Val)
|
|
|
NM_001458.5(FLNC):c.148C>G (p.Leu50Val)
|
|
|
NM_001458.5(FLNC):c.1499T>C (p.Phe500Ser)
|
rs2128934879
|
|
NM_001458.5(FLNC):c.1502C>T (p.Thr501Ile)
|
rs794727967
|
|
NM_001458.5(FLNC):c.1508G>T (p.Gly503Val)
|
rs1483134760
|
|
NM_001458.5(FLNC):c.1510G>A (p.Ala504Thr)
|
rs1562993551
|
|
NM_001458.5(FLNC):c.1514G>A (p.Gly505Asp)
|
|
|
NM_001458.5(FLNC):c.1517G>A (p.Ser506Asn)
|
rs1554398094
|
|
NM_001458.5(FLNC):c.1525C>G (p.Leu509Val)
|
|
|
NM_001458.5(FLNC):c.1525C>T (p.Leu509Phe)
|
|
|
NM_001458.5(FLNC):c.1529A>T (p.Lys510Met)
|
|
|
NM_001458.5(FLNC):c.1535C>A (p.Thr512Lys)
|
rs775538827
|
|
NM_001458.5(FLNC):c.1541A>C (p.Lys514Thr)
|
rs375881193
|
|
NM_001458.5(FLNC):c.1543G>A (p.Gly515Arg)
|
|
|
NM_001458.5(FLNC):c.1544G>A (p.Gly515Glu)
|
|
|
NM_001458.5(FLNC):c.1564C>G (p.Pro522Ala)
|
rs1808287052
|
|
NM_001458.5(FLNC):c.1565C>T (p.Pro522Leu)
|
|
|
NM_001458.5(FLNC):c.157G>T (p.Val53Leu)
|
|
|
NM_001458.5(FLNC):c.1582G>A (p.Ala528Thr)
|
|
|
NM_001458.5(FLNC):c.1586G>T (p.Gly529Val)
|
rs2128935018
|
|
NM_001458.5(FLNC):c.1598T>G (p.Phe533Cys)
|
|
|
NM_001458.5(FLNC):c.1599C>A (p.Phe533Leu)
|
rs768072902
|
|
NM_001458.5(FLNC):c.1600G>C (p.Glu534Gln)
|
rs201905890
|
|
NM_001458.5(FLNC):c.1603T>G (p.Cys535Gly)
|
rs1808289781
|
|
NM_001458.5(FLNC):c.1607A>G (p.Glu536Gly)
|
rs2128935033
|
|
NM_001458.5(FLNC):c.1618G>T (p.Val540Leu)
|
rs551472827
|
|
NM_001458.5(FLNC):c.161G>T (p.Gly54Val)
|
rs1032152678
|
|
NM_001458.5(FLNC):c.1628G>A (p.Gly543Glu)
|
rs1221769888
|
|
NM_001458.5(FLNC):c.1640T>C (p.Val547Ala)
|
|
|
NM_001458.5(FLNC):c.1646T>C (p.Ile549Thr)
|
|
|
NM_001458.5(FLNC):c.1649C>A (p.Thr550Lys)
|
|
|
NM_001458.5(FLNC):c.1651T>C (p.Trp551Arg)
|
|
|
NM_001458.5(FLNC):c.1654G>T (p.Gly552Cys)
|
|
|
NM_001458.5(FLNC):c.1655G>T (p.Gly552Val)
|
|
|
NM_001458.5(FLNC):c.1672C>T (p.Arg558Cys)
|
rs370326975
|
|
NM_001458.5(FLNC):c.1676+2dup
|
rs2128935058
|
|
NM_001458.5(FLNC):c.1676+3G>A
|
|
|
NM_001458.5(FLNC):c.1677-3C>G
|
|
|
NM_001458.5(FLNC):c.1682T>C (p.Phe561Ser)
|
|
|
NM_001458.5(FLNC):c.1688T>C (p.Val563Ala)
|
rs774963796
|
|
NM_001458.5(FLNC):c.1693G>A (p.Val565Met)
|
|
|
NM_001458.5(FLNC):c.1693G>T (p.Val565Leu)
|
|
|
NM_001458.5(FLNC):c.1696A>T (p.Ser566Cys)
|
|
|
NM_001458.5(FLNC):c.16G>A (p.Gly6Ser)
|
rs1284761356
|
|
NM_001458.5(FLNC):c.16G>C (p.Gly6Arg)
|
rs1284761356
|
|
NM_001458.5(FLNC):c.1706C>T (p.Ala569Val)
|
rs2128935115
|
|
NM_001458.5(FLNC):c.1709G>C (p.Gly570Ala)
|
|
|
NM_001458.5(FLNC):c.170T>C (p.Leu57Pro)
|
rs1585147774
|
|
NM_001458.5(FLNC):c.1711G>A (p.Val571Met)
|
rs1194021325
|
|
NM_001458.5(FLNC):c.1712T>C (p.Val571Ala)
|
rs750817835
|
|
NM_001458.5(FLNC):c.1723C>A (p.Arg575=)
|
|
|
NM_001458.5(FLNC):c.1723C>T (p.Arg575Trp)
|
rs761117952
|
|
NM_001458.5(FLNC):c.1724G>C (p.Arg575Pro)
|
rs764751276
|
|
NM_001458.5(FLNC):c.1735C>A (p.Pro579Thr)
|
rs1808303402
|
|
NM_001458.5(FLNC):c.1748C>T (p.Thr583Ile)
|
rs2128935128
|
|
NM_001458.5(FLNC):c.1756G>T (p.Val586Leu)
|
|
|
NM_001458.5(FLNC):c.1774T>C (p.Phe592Leu)
|
|
|
NM_001458.5(FLNC):c.1790T>C (p.Ile597Thr)
|
|
|
NM_001458.5(FLNC):c.179T>A (p.Leu60Gln)
|
rs1807855891
|
|
NM_001458.5(FLNC):c.179T>G (p.Leu60Arg)
|
|
|
NM_001458.5(FLNC):c.1801G>A (p.Val601Met)
|
rs762652248
|
|
NM_001458.5(FLNC):c.1810C>A (p.Leu604Met)
|
|
|
NM_001458.5(FLNC):c.1811T>C (p.Leu604Pro)
|
|
|
NM_001458.5(FLNC):c.1813G>A (p.Gly605Ser)
|
rs1562994122
|
|
NM_001458.5(FLNC):c.1814-3C>G
|
rs1162747854
|
|
NM_001458.5(FLNC):c.1814G>C (p.Gly605Ala)
|
|
|
NM_001458.5(FLNC):c.1816T>G (p.Phe606Val)
|
rs1808316775
|
|
NM_001458.5(FLNC):c.1822A>T (p.Ile608Phe)
|
|
|
NM_001458.5(FLNC):c.1824C>G (p.Ile608Met)
|
rs753007069
|
|
NM_001458.5(FLNC):c.1825G>C (p.Glu609Gln)
|
rs758389160
|
|
NM_001458.5(FLNC):c.1831C>T (p.Pro611Ser)
|
|
|
NM_001458.5(FLNC):c.1847T>A (p.Ile616Asn)
|
|
|
NM_001458.5(FLNC):c.1848C>G (p.Ile616Met)
|
rs770173704
|
|
NM_001458.5(FLNC):c.1851A>T (p.Glu617Asp)
|
rs199715890
|
|
NM_001458.5(FLNC):c.1855GAC[1] (p.Asp620del)
|
|
|
NM_001458.5(FLNC):c.1857C>G (p.Asp619Glu)
|
rs771469976
|
|
NM_001458.5(FLNC):c.1858G>A (p.Asp620Asn)
|
rs567514134
|
|
NM_001458.5(FLNC):c.1858G>C (p.Asp620His)
|
rs567514134
|
|
NM_001458.5(FLNC):c.1862A>T (p.Lys621Met)
|
|
|
NM_001458.5(FLNC):c.1871G>C (p.Gly624Ala)
|
|
|
NM_001458.5(FLNC):c.187G>T (p.Asp63Tyr)
|
|
|
NM_001458.5(FLNC):c.1882G>A (p.Val628Met)
|
|
|
NM_001458.5(FLNC):c.1893G>C (p.Trp631Cys)
|
rs1808320936
|
|
NM_001458.5(FLNC):c.1895C>A (p.Pro632His)
|
rs1482049894
|
|
NM_001458.5(FLNC):c.1903C>T (p.Pro635Ser)
|
|
|
NM_001458.5(FLNC):c.1915G>A (p.Ala639Thr)
|
rs1175392094
|
|
NM_001458.5(FLNC):c.1915G>T (p.Ala639Ser)
|
|
|
NM_001458.5(FLNC):c.1927A>C (p.Ile643Leu)
|
rs1808322583
|
|
NM_001458.5(FLNC):c.1927A>G (p.Ile643Val)
|
rs1808322583
|
|
NM_001458.5(FLNC):c.1932del (p.Cys644fs)
|
|
|
NM_001458.5(FLNC):c.1934A>C (p.Asp645Ala)
|
rs1554398369
|
|
NM_001458.5(FLNC):c.1935_1937del (p.Asp646del)
|
rs765300084
|
|
NM_001458.5(FLNC):c.1945_1953dup (p.Ile649_Asp651dup)
|
rs1554398377
|
|
NM_001458.5(FLNC):c.1949G>A (p.Arg650Gln)
|
|
|
NM_001458.5(FLNC):c.1958C>T (p.Pro653Leu)
|
rs1808324139
|
|
NM_001458.5(FLNC):c.195C>A (p.Ser65Arg)
|
|
|
NM_001458.5(FLNC):c.1963A>G (p.Ile655Val)
|
rs2128935277
|
|
NM_001458.5(FLNC):c.1975C>G (p.Leu659Val)
|
|
|
NM_001458.5(FLNC):c.197A>C (p.Asp66Ala)
|
|
|
NM_001458.5(FLNC):c.197A>G (p.Asp66Gly)
|
|
|
NM_001458.5(FLNC):c.1994G>A (p.Cys665Tyr)
|
|
|
NM_001458.5(FLNC):c.199G>A (p.Gly67Arg)
|
|
|
NM_001458.5(FLNC):c.2007+6G>A
|
rs757293841
|
|
NM_001458.5(FLNC):c.2008-3C>T
|
|
|
NM_001458.5(FLNC):c.2008G>A (p.Val670Met)
|
|
|
NM_001458.5(FLNC):c.200G>T (p.Gly67Val)
|
rs1807857687
|
|
NM_001458.5(FLNC):c.2033A>G (p.Glu678Gly)
|
rs1232073461
|
|
NM_001458.5(FLNC):c.2035C>T (p.Pro679Ser)
|
rs1808331792
|
|
NM_001458.5(FLNC):c.2036C>T (p.Pro679Leu)
|
rs975517733
|
|
NM_001458.5(FLNC):c.2047A>G (p.Ile683Val)
|
|
|
NM_001458.5(FLNC):c.2050G>C (p.Val684Leu)
|
rs769221710
|
|
NM_001458.5(FLNC):c.2052G>A (p.Val684=)
|
rs1554398437
|
|
NM_001458.5(FLNC):c.2053G>A (p.Asp685Asn)
|
|
|
NM_001458.5(FLNC):c.2059C>T (p.Pro687Ser)
|
|
|
NM_001458.5(FLNC):c.2062G>A (p.Ala688Thr)
|
rs774194364
|
|
NM_001458.5(FLNC):c.2062G>C (p.Ala688Pro)
|
rs774194364
|
|
NM_001458.5(FLNC):c.2062G>T (p.Ala688Ser)
|
rs774194364
|
|
NM_001458.5(FLNC):c.2072C>T (p.Thr691Ile)
|
rs2128935358
|
|
NM_001458.5(FLNC):c.2083C>T (p.Arg695Cys)
|
|
|
NM_001458.5(FLNC):c.2084G>T (p.Arg695Leu)
|
rs766592492
|
|
NM_001458.5(FLNC):c.2090C>T (p.Ala697Val)
|
|
|
NM_001458.5(FLNC):c.2092G>A (p.Gly698Ser)
|
rs1461903090
|
|
NM_001458.5(FLNC):c.2093G>A (p.Gly698Asp)
|
rs1562994518
|
|
NM_001458.5(FLNC):c.2094C>T (p.Gly698=)
|
rs1585156683
|
|
NM_001458.5(FLNC):c.2099G>A (p.Gly700Glu)
|
|
|
NM_001458.5(FLNC):c.2107_2119delinsT (p.Lys703_Gln707delinsTer)
|
rs1585156701
|
|
NM_001458.5(FLNC):c.2108A>G (p.Lys703Arg)
|
rs753914864
|
|
NM_001458.5(FLNC):c.211A>G (p.Ile71Val)
|
rs1250893880
|
|
NM_001458.5(FLNC):c.2122-6C>G
|
rs1808361488
|
|
NM_001458.5(FLNC):c.2124C>A (p.Asp708Glu)
|
rs187481700
|
|
NM_001458.5(FLNC):c.2125G>T (p.Ala709Ser)
|
|
|
NM_001458.5(FLNC):c.212T>C (p.Ile71Thr)
|
rs1554396387
|
|
NM_001458.5(FLNC):c.2130C>A (p.Asp710Glu)
|
rs778781499
|
|
NM_001458.5(FLNC):c.2131_2145del (p.Gly711_Asp715del)
|
|
|
NM_001458.5(FLNC):c.2142C>G (p.Ile714Met)
|
rs199595235
|
|
NM_001458.5(FLNC):c.2146A>G (p.Ile716Val)
|
rs1808363671
|
|
NM_001458.5(FLNC):c.2149A>G (p.Lys717Glu)
|
|
|
NM_001458.5(FLNC):c.2150A>T (p.Lys717Met)
|
|
|
NM_001458.5(FLNC):c.2155A>T (p.Ile719Phe)
|
rs1808363999
|
|
NM_001458.5(FLNC):c.215C>T (p.Ala72Val)
|
rs893814984
|
|
NM_001458.5(FLNC):c.2168A>T (p.Asp723Val)
|
rs1808365040
|
|
NM_001458.5(FLNC):c.2171G>A (p.Gly724Asp)
|
rs1554398553
|
|
NM_001458.5(FLNC):c.2171G>T (p.Gly724Val)
|
|
|
NM_001458.5(FLNC):c.2188_2205del (p.Tyr730_Pro735del)
|
rs2128935556
|
|
NM_001458.5(FLNC):c.2189A>G (p.Tyr730Cys)
|
|
|
NM_001458.5(FLNC):c.2194C>T (p.Pro732Ser)
|
rs1562994905
|
|
NM_001458.5(FLNC):c.2201A>G (p.Lys734Arg)
|
rs1585157281
|
|
NM_001458.5(FLNC):c.2202G>C (p.Lys734Asn)
|
rs769984017
|
|
NM_001458.5(FLNC):c.2206A>G (p.Ile736Val)
|
rs2128935565
|
|
NM_001458.5(FLNC):c.2212C>A (p.His738Asn)
|
|
|
NM_001458.5(FLNC):c.2218A>G (p.Ile740Val)
|
|
|
NM_001458.5(FLNC):c.2219T>C (p.Ile740Thr)
|
rs2128935573
|
|
NM_001458.5(FLNC):c.2224A>G (p.Ile742Val)
|
rs769224072
|
|
NM_001458.5(FLNC):c.2227T>C (p.Ser743Pro)
|
|
|
NM_001458.5(FLNC):c.2228C>T (p.Ser743Phe)
|
|
|
NM_001458.5(FLNC):c.2228_2230del (p.Ser743del)
|
rs2128935577
|
|
NM_001458.5(FLNC):c.2245G>C (p.Val749Leu)
|
rs763901270
|
|
NM_001458.5(FLNC):c.2246T>A (p.Val749Glu)
|
rs932445396
|
|
NM_001458.5(FLNC):c.2248C>G (p.Pro750Ala)
|
rs1808369718
|
|
NM_001458.5(FLNC):c.2249C>T (p.Pro750Leu)
|
|
|
NM_001458.5(FLNC):c.2254A>G (p.Ser752Gly)
|
|
|
NM_001458.5(FLNC):c.2255G>A (p.Ser752Asn)
|
|
|
NM_001458.5(FLNC):c.2275G>C (p.Gly759Arg)
|
|
|
NM_001458.5(FLNC):c.2286C>G (p.Ser762Arg)
|
rs1160582987
|
|
NM_001458.5(FLNC):c.231_232insGTATGC (p.Leu77_Ser78insValCys)
|
rs2128932197
|
|
NM_001458.5(FLNC):c.2321T>C (p.Val774Ala)
|
rs1808383222
|
|
NM_001458.5(FLNC):c.232A>G (p.Ser78Gly)
|
rs746082496
|
|
NM_001458.5(FLNC):c.2335C>T (p.Leu779Phe)
|
rs2128935691
|
|
NM_001458.5(FLNC):c.2338A>G (p.Lys780Glu)
|
|
|
NM_001458.5(FLNC):c.2347G>A (p.Glu783Lys)
|
|
|
NM_001458.5(FLNC):c.234_235insTCGTATGCAGCTCGTATG (p.Ser78_Gln79insSerTyrAlaAlaArgMet)
|
rs2128932203
|
|
NM_001458.5(FLNC):c.2351C>G (p.Pro784Arg)
|
rs2128935692
|
|
NM_001458.5(FLNC):c.2359T>C (p.Phe787Leu)
|
|
|
NM_001458.5(FLNC):c.2360T>C (p.Phe787Ser)
|
rs760513917
|
|
NM_001458.5(FLNC):c.2363C>G (p.Thr788Arg)
|
rs1010774264
|
|
NM_001458.5(FLNC):c.2368G>A (p.Asp790Asn)
|
|
|
NM_001458.5(FLNC):c.2383G>A (p.Gly795Arg)
|
rs1196887010
|
|
NM_001458.5(FLNC):c.2389+14G>T
|
rs2128935710
|
|
NM_001458.5(FLNC):c.2389+18G>A
|
|
|
NM_001458.5(FLNC):c.2392G>T (p.Asp798Tyr)
|
rs778594252
|
|
NM_001458.5(FLNC):c.2395G>A (p.Val799Met)
|
rs1345929888
|
|
NM_001458.5(FLNC):c.2401A>T (p.Ile801Phe)
|
|
|
NM_001458.5(FLNC):c.2404G>C (p.Gly802Arg)
|
|
|
NM_001458.5(FLNC):c.2413T>C (p.Cys805Arg)
|
|
|
NM_001458.5(FLNC):c.2415C>G (p.Cys805Trp)
|
|
|
NM_001458.5(FLNC):c.2416G>C (p.Ala806Pro)
|
|
|
NM_001458.5(FLNC):c.2417C>A (p.Ala806Asp)
|
|
|
NM_001458.5(FLNC):c.241C>T (p.Arg81Cys)
|
rs1374458008
|
|
NM_001458.5(FLNC):c.2426TGG[1] (p.Val810del)
|
rs1585157919
|
|
NM_001458.5(FLNC):c.2428G>C (p.Val810Leu)
|
rs763153223
|
|
NM_001458.5(FLNC):c.2432G>C (p.Gly811Ala)
|
|
|
NM_001458.5(FLNC):c.2434C>T (p.Pro812Ser)
|
rs1808396338
|
|
NM_001458.5(FLNC):c.244A>C (p.Met82Leu)
|
rs2128932209
|
|
NM_001458.5(FLNC):c.2459A>T (p.Asp820Val)
|
rs886044638
|
|
NM_001458.5(FLNC):c.245T>A (p.Met82Lys)
|
rs1807859917
|
|
NM_001458.5(FLNC):c.245T>G (p.Met82Arg)
|
rs1807859917
|
|
NM_001458.5(FLNC):c.2460C>A (p.Asp820Glu)
|
|
|
NM_001458.5(FLNC):c.246G>A (p.Met82Ile)
|
rs1554396403
|
|
NM_001458.5(FLNC):c.2470A>T (p.Asn824Tyr)
|
rs1562995383
|
|
NM_001458.5(FLNC):c.2474A>G (p.Asp825Gly)
|
rs559621589
|
|
NM_001458.5(FLNC):c.2476_2478del (p.Asn826del)
|
rs1188205440
|
|
NM_001458.5(FLNC):c.2478C>A (p.Asn826Lys)
|
|
|
NM_001458.5(FLNC):c.2485T>G (p.Phe829Val)
|
rs758056957
|
|
NM_001458.5(FLNC):c.2494A>C (p.Lys832Gln)
|
rs2128935786
|
|
NM_001458.5(FLNC):c.2506C>T (p.Pro836Ser)
|
rs1422445527
|
|
NM_001458.5(FLNC):c.2507C>T (p.Pro836Leu)
|
rs199652368
|
|
NM_001458.5(FLNC):c.250C>G (p.Arg84Gly)
|
|
|
NM_001458.5(FLNC):c.2512G>A (p.Ala838Thr)
|
rs1808400610
|
|
NM_001458.5(FLNC):c.2513C>G (p.Ala838Gly)
|
|
|
NM_001458.5(FLNC):c.251G>C (p.Arg84Pro)
|
|
|
NM_001458.5(FLNC):c.2521T>C (p.Tyr841His)
|
rs2128935808
|
|
NM_001458.5(FLNC):c.2527A>T (p.Ile843Phe)
|
rs973425855
|
|
NM_001458.5(FLNC):c.2528T>C (p.Ile843Thr)
|
|
|
NM_001458.5(FLNC):c.2531T>C (p.Met844Thr)
|
|
|
NM_001458.5(FLNC):c.2539T>C (p.Phe847Leu)
|
|
|
NM_001458.5(FLNC):c.2542G>A (p.Ala848Thr)
|
|
|
NM_001458.5(FLNC):c.2546A>G (p.Asn849Ser)
|
rs755425307
|
|
NM_001458.5(FLNC):c.2550+3A>T
|
|
|
NM_001458.5(FLNC):c.2550+3dup
|
|
|
NM_001458.5(FLNC):c.2550+4C>G
|
|
|
NM_001458.5(FLNC):c.2550G>A (p.Gln850=)
|
rs1585158097
|
|
NM_001458.5(FLNC):c.2551-3C>T
|
rs1293024920
|
|
NM_001458.5(FLNC):c.2553G>T (p.Glu851Asp)
|
|
|
NM_001458.5(FLNC):c.2555T>C (p.Ile852Thr)
|
rs111482519
|
|
NM_001458.5(FLNC):c.2565C>G (p.Ser855Arg)
|
|
|
NM_001458.5(FLNC):c.2582T>G (p.Val861Gly)
|
rs749269317
|
|
NM_001458.5(FLNC):c.2587C>T (p.Pro863Ser)
|
rs754750752
|
|
NM_001458.5(FLNC):c.2604C>A (p.Ser868Arg)
|
|
|
NM_001458.5(FLNC):c.2604C>G (p.Ser868Arg)
|
rs2128935920
|
|
NM_001458.5(FLNC):c.2608G>A (p.Val870Ile)
|
|
|
NM_001458.5(FLNC):c.2621G>A (p.Gly874Asp)
|
rs2128935929
|
|
NM_001458.5(FLNC):c.2624C>G (p.Pro875Arg)
|
rs1418979185
|
|
NM_001458.5(FLNC):c.2628G>T (p.Gly876=)
|
rs2128935936
|
|
NM_001458.5(FLNC):c.2630_2631insTCT (p.Leu877_Asn878insLeu)
|
|
|
NM_001458.5(FLNC):c.2633A>G (p.Asn878Ser)
|
|
|
NM_001458.5(FLNC):c.2641+5G>C
|
rs2128935942
|
|
NM_001458.5(FLNC):c.2642-2dup
|
|
|
NM_001458.5(FLNC):c.2644G>A (p.Val882Met)
|
|
|
NM_001458.5(FLNC):c.266G>A (p.Arg89His)
|
rs1554396410
|
|
NM_001458.5(FLNC):c.2699C>T (p.Ala900Val)
|
|
|
NM_001458.5(FLNC):c.269C>G (p.Pro90Arg)
|
rs1807861341
|
|
NM_001458.5(FLNC):c.2701A>C (p.Lys901Gln)
|
rs2128935990
|
|
NM_001458.5(FLNC):c.2703G>T (p.Lys901Asn)
|
rs1554398845
|
|
NM_001458.5(FLNC):c.2707G>A (p.Asp903Asn)
|
rs781591239
|
|
NM_001458.5(FLNC):c.2707G>C (p.Asp903His)
|
|
|
NM_001458.5(FLNC):c.2710G>A (p.Val904Met)
|
rs1340231541
|
|
NM_001458.5(FLNC):c.2710G>T (p.Val904Leu)
|
|
|
NM_001458.5(FLNC):c.2711T>G (p.Val904Gly)
|
rs2128935993
|
|
NM_001458.5(FLNC):c.2714A>G (p.Gln905Arg)
|
|
|
NM_001458.5(FLNC):c.2718T>G (p.Phe906Leu)
|
|
|
NM_001458.5(FLNC):c.272A>C (p.Asn91Thr)
|
rs886042565
|
|
NM_001458.5(FLNC):c.272A>G (p.Asn91Ser)
|
|
|
NM_001458.5(FLNC):c.2731A>C (p.Lys911Gln)
|
|
|
NM_001458.5(FLNC):c.2734G>A (p.Gly912Ser)
|
rs1808427228
|
|
NM_001458.5(FLNC):c.2735G>A (p.Gly912Asp)
|
|
|
NM_001458.5(FLNC):c.2738A>G (p.Glu913Gly)
|
|
|
NM_001458.5(FLNC):c.273C>A (p.Asn91Lys)
|
rs1807861563
|
|
NM_001458.5(FLNC):c.2747G>T (p.Arg916Leu)
|
rs143720860
|
|
NM_001458.5(FLNC):c.2771A>C (p.His924Pro)
|
|
|
NM_001458.5(FLNC):c.2776T>G (p.Tyr926Asp)
|
rs1808429467
|
|
NM_001458.5(FLNC):c.2779T>C (p.Ser927Pro)
|
|
|
NM_001458.5(FLNC):c.277C>T (p.Arg93Cys)
|
rs762326127
|
|
NM_001458.5(FLNC):c.2780C>A (p.Ser927Tyr)
|
rs1585158690
|
|
NM_001458.5(FLNC):c.2780_2782del (p.Ser927del)
|
rs1808429673
|
|
NM_001458.5(FLNC):c.2782T>A (p.Tyr928Asn)
|
rs1808429909
|
|
NM_001458.5(FLNC):c.2782T>C (p.Tyr928His)
|
rs1808429909
|
|
NM_001458.5(FLNC):c.2794T>A (p.Tyr932Asn)
|
rs1808430365
|
|
NM_001458.5(FLNC):c.2797A>C (p.Thr933Pro)
|
rs2128936026
|
|
NM_001458.5(FLNC):c.2798C>G (p.Thr933Ser)
|
|
|
NM_001458.5(FLNC):c.2807A>T (p.Gln936Leu)
|
rs2128936027
|
|
NM_001458.5(FLNC):c.2811+3G>A
|
|
|
NM_001458.5(FLNC):c.2812-4A>G
|
|
|
NM_001458.5(FLNC):c.2812-8C>G
|
|
|
NM_001458.5(FLNC):c.2813G>C (p.Gly938Ala)
|
|
|
NM_001458.5(FLNC):c.2815A>G (p.Asn939Asp)
|
|
|
NM_001458.5(FLNC):c.2819T>A (p.Met940Lys)
|
rs2128936077
|
|
NM_001458.5(FLNC):c.2825T>C (p.Val942Ala)
|
rs1808440244
|
|
NM_001458.5(FLNC):c.2830G>A (p.Val944Met)
|
rs2128936081
|
|
NM_001458.5(FLNC):c.2833A>G (p.Thr945Ala)
|
|
|
NM_001458.5(FLNC):c.2840G>A (p.Gly947Asp)
|
|
|
NM_001458.5(FLNC):c.2845G>T (p.Asp949Tyr)
|
rs761905908
|
|
NM_001458.5(FLNC):c.2847C>A (p.Asp949Glu)
|
rs1808441944
|
|
NM_001458.5(FLNC):c.2847C>G (p.Asp949Glu)
|
rs1808441944
|
|
NM_001458.5(FLNC):c.2851G>T (p.Val951Phe)
|
rs760566825
|
|
NM_001458.5(FLNC):c.2855C>T (p.Pro952Leu)
|
|
|
NM_001458.5(FLNC):c.2857A>G (p.Lys953Glu)
|
|
|
NM_001458.5(FLNC):c.2862C>G (p.Ser954Arg)
|
rs766581831
|
|
NM_001458.5(FLNC):c.2876A>G (p.Asn959Ser)
|
|
|
NM_001458.5(FLNC):c.2879T>C (p.Val960Ala)
|
rs568452175
|
|
NM_001458.5(FLNC):c.2884C>T (p.Pro962Ser)
|
|
|
NM_001458.5(FLNC):c.2885C>A (p.Pro962His)
|
|
|
NM_001458.5(FLNC):c.2890C>A (p.Leu964Met)
|
rs1562996103
|
|
NM_001458.5(FLNC):c.2897T>C (p.Leu966Pro)
|
rs2128936106
|
|
NM_001458.5(FLNC):c.2900G>A (p.Ser967Asn)
|
|
|
NM_001458.5(FLNC):c.2907C>G (p.Ile969Met)
|
|
|
NM_001458.5(FLNC):c.290T>C (p.Leu97Pro)
|
rs1585147935
|
|
NM_001458.5(FLNC):c.290T>G (p.Leu97Arg)
|
rs1585147935
|
|
NM_001458.5(FLNC):c.2911G>C (p.Val971Leu)
|
rs548199973
|
|
NM_001458.5(FLNC):c.2915A>G (p.Gln972Arg)
|
|
|
NM_001458.5(FLNC):c.2917G>A (p.Gly973Ser)
|
rs2128936113
|
|
NM_001458.5(FLNC):c.2929+5G>A
|
|
|
NM_001458.5(FLNC):c.2929+5G>C
|
|
|
NM_001458.5(FLNC):c.2929+6T>G
|
rs2128936121
|
|
NM_001458.5(FLNC):c.292G>A (p.Glu98Lys)
|
rs1195481399
|
|
NM_001458.5(FLNC):c.2930-4G>T
|
rs747623690
|
|
NM_001458.5(FLNC):c.2930-5C>G
|
rs371599113
|
|
NM_001458.5(FLNC):c.2938G>C (p.Val980Leu)
|
|
|
NM_001458.5(FLNC):c.2953G>A (p.Ala985Thr)
|
rs1179474749
|
|
NM_001458.5(FLNC):c.2972G>A (p.Arg991Gln)
|
|
|
NM_001458.5(FLNC):c.2975G>A (p.Gly992Glu)
|
rs1419637272
|
|
NM_001458.5(FLNC):c.2978C>T (p.Ala993Val)
|
rs2128936160
|
|
NM_001458.5(FLNC):c.297C>G (p.Asn99Lys)
|
|
|
NM_001458.5(FLNC):c.2981G>T (p.Gly994Val)
|
|
|
NM_001458.5(FLNC):c.2984G>A (p.Gly995Asp)
|
rs1808452430
|
|
NM_001458.5(FLNC):c.3005G>T (p.Arg1002Leu)
|
|
|
NM_001458.5(FLNC):c.3007A>C (p.Met1003Leu)
|
rs1808453806
|
|
NM_001458.5(FLNC):c.301T>C (p.Ser101Pro)
|
|
|
NM_001458.5(FLNC):c.301_302delinsAA (p.Ser101Asn)
|
rs2128932233
|
|
NM_001458.5(FLNC):c.3022C>A (p.Arg1008Ser)
|
|
|
NM_001458.5(FLNC):c.3023G>T (p.Arg1008Leu)
|
|
|
NM_001458.5(FLNC):c.3025C>G (p.Arg1009Gly)
|
|
|
NM_001458.5(FLNC):c.3026G>A (p.Arg1009Gln)
|
rs375445167
|
|
NM_001458.5(FLNC):c.3026G>T (p.Arg1009Leu)
|
|
|
NM_001458.5(FLNC):c.302C>T (p.Ser101Phe)
|
rs1554396416
|
|
NM_001458.5(FLNC):c.3032T>C (p.Ile1011Thr)
|
rs1808454823
|
|
NM_001458.5(FLNC):c.3052G>A (p.Gly1018Ser)
|
rs2128936181
|
|
NM_001458.5(FLNC):c.3055G>T (p.Gly1019Cys)
|
rs200864007
|
|
NM_001458.5(FLNC):c.3056G>A (p.Gly1019Asp)
|
|
|
NM_001458.5(FLNC):c.3058G>A (p.Gly1020Arg)
|
rs2128936185
|
|
NM_001458.5(FLNC):c.3065A>C (p.Glu1022Ala)
|
rs1808455747
|
|
NM_001458.5(FLNC):c.3067G>A (p.Ala1023Thr)
|
rs376107866
|
|
NM_001458.5(FLNC):c.3076G>A (p.Val1026Met)
|
rs1808456380
|
|
NM_001458.5(FLNC):c.3088C>A (p.Pro1030Thr)
|
rs1554399034
|
|
NM_001458.5(FLNC):c.3088C>T (p.Pro1030Ser)
|
|
|
NM_001458.5(FLNC):c.3089C>G (p.Pro1030Arg)
|
rs2128936198
|
|
NM_001458.5(FLNC):c.3092C>G (p.Pro1031Arg)
|
rs372467579
|
|
NM_001458.5(FLNC):c.3096G>C (p.Glu1032Asp)
|
|
|
NM_001458.5(FLNC):c.3107A>C (p.Tyr1036Ser)
|
|
|
NM_001458.5(FLNC):c.3109A>G (p.Lys1037Glu)
|
|
|
NM_001458.5(FLNC):c.3115G>A (p.Asp1039Asn)
|
rs1808458838
|
|
NM_001458.5(FLNC):c.3118A>T (p.Ile1040Phe)
|
|
|
NM_001458.5(FLNC):c.3122C>T (p.Thr1041Ile)
|
rs557380928
|
|
NM_001458.5(FLNC):c.3136C>G (p.Pro1046Ala)
|
rs749099313
|
|
NM_001458.5(FLNC):c.3142C>T (p.Pro1048Ser)
|
|
|
NM_001458.5(FLNC):c.3143C>T (p.Pro1048Leu)
|
rs2128936216
|
|
NM_001458.5(FLNC):c.3145_3146delinsTT (p.Gly1049Phe)
|
rs1585159401
|
|
NM_001458.5(FLNC):c.3151C>T (p.Pro1051Ser)
|
|
|
NM_001458.5(FLNC):c.3160G>A (p.Val1054Met)
|
|
|
NM_001458.5(FLNC):c.3166G>A (p.Gly1056Ser)
|
rs1287987501
|
|
NM_001458.5(FLNC):c.3167G>A (p.Gly1056Asp)
|
rs763807492
|
|
NM_001458.5(FLNC):c.3175C>G (p.Pro1059Ala)
|
rs767119310
|
|
NM_001458.5(FLNC):c.3178C>G (p.Pro1060Ala)
|
rs2128936236
|
|
NM_001458.5(FLNC):c.3187T>C (p.Ser1063Pro)
|
|
|
NM_001458.5(FLNC):c.31G>T (p.Gly11Cys)
|
rs370512642
|
|
NM_001458.5(FLNC):c.3217A>C (p.Lys1073Gln)
|
rs2128936345
|
|
NM_001458.5(FLNC):c.3234C>T (p.Gly1078=)
|
rs1808479678
|
|
NM_001458.5(FLNC):c.3236C>A (p.Thr1079Asn)
|
rs2128936356
|
|
NM_001458.5(FLNC):c.3238C>T (p.Pro1080Ser)
|
rs950648783
|
|
NM_001458.5(FLNC):c.3247T>A (p.Phe1083Ile)
|
rs1354409050
|
|
NM_001458.5(FLNC):c.3247T>C (p.Phe1083Leu)
|
rs1354409050
|
|
NM_001458.5(FLNC):c.3256G>A (p.Asp1086Asn)
|
rs369398096
|
|
NM_001458.5(FLNC):c.3257_3258delinsTA (p.Asp1086Val)
|
rs2128936367
|
|
NM_001458.5(FLNC):c.325C>A (p.Arg109Ser)
|
rs2128932240
|
|
NM_001458.5(FLNC):c.3264G>A (p.Lys1088=)
|
rs1808481662
|
|
NM_001458.5(FLNC):c.3265G>A (p.Gly1089Arg)
|
rs1554399171
|
|
NM_001458.5(FLNC):c.3275C>A (p.Thr1092Lys)
|
rs1405189650
|
|
NM_001458.5(FLNC):c.3278G>A (p.Gly1093Asp)
|
rs1374868566
|
|
NM_001458.5(FLNC):c.328G>A (p.Glu110Lys)
|
|
|
NM_001458.5(FLNC):c.3308G>A (p.Cys1103Tyr)
|
rs1238364459
|
|
NM_001458.5(FLNC):c.3322G>A (p.Glu1108Lys)
|
rs781352216
|
|
NM_001458.5(FLNC):c.332A>G (p.His111Arg)
|
|
|
NM_001458.5(FLNC):c.3343G>T (p.Gly1115Cys)
|
|
|
NM_001458.5(FLNC):c.3344G>A (p.Gly1115Asp)
|
rs2128936401
|
|
NM_001458.5(FLNC):c.3349T>C (p.Cys1117Arg)
|
|
|
NM_001458.5(FLNC):c.3349T>G (p.Cys1117Gly)
|
|
|
NM_001458.5(FLNC):c.3350G>T (p.Cys1117Phe)
|
|
|
NM_001458.5(FLNC):c.3358A>G (p.Ser1120Gly)
|
rs749637616
|
|
NM_001458.5(FLNC):c.3371C>A (p.Thr1124Lys)
|
rs375013141
|
|
NM_001458.5(FLNC):c.3371C>T (p.Thr1124Met)
|
rs375013141
|
|
NM_001458.5(FLNC):c.3377C>G (p.Pro1126Arg)
|
rs1808488088
|
|
NM_001458.5(FLNC):c.338A>G (p.Lys113Arg)
|
|
|
NM_001458.5(FLNC):c.3391A>G (p.Ile1131Val)
|
rs773110786
|
|
NM_001458.5(FLNC):c.3395A>G (p.Asn1132Ser)
|
rs2128936421
|
|
NM_001458.5(FLNC):c.3405T>G (p.Phe1135Leu)
|
|
|
NM_001458.5(FLNC):c.3415C>T (p.His1139Tyr)
|
rs1562996847
|
|
NM_001458.5(FLNC):c.3418A>G (p.Ile1140Val)
|
rs2128936425
|
|
NM_001458.5(FLNC):c.341T>C (p.Leu114Pro)
|
rs1807864684
|
|
NM_001458.5(FLNC):c.3430C>T (p.Pro1144Ser)
|
rs1585160095
|
|
NM_001458.5(FLNC):c.3431C>T (p.Pro1144Leu)
|
rs200723434
|
|
NM_001458.5(FLNC):c.3431_3432delinsGT (p.Pro1144Arg)
|
|
|
NM_001458.5(FLNC):c.3443C>G (p.Thr1148Ser)
|
|
|
NM_001458.5(FLNC):c.3443C>T (p.Thr1148Ile)
|
rs2128936430
|
|
NM_001458.5(FLNC):c.3448C>T (p.Arg1150Trp)
|
rs779184516
|
|
NM_001458.5(FLNC):c.3451C>T (p.Pro1151Ser)
|
|
|
NM_001458.5(FLNC):c.3454G>T (p.Val1152Leu)
|
rs1396046243
|
|
NM_001458.5(FLNC):c.3463C>G (p.Pro1155Ala)
|
rs745361779
|
|
NM_001458.5(FLNC):c.3465G>C (p.Pro1155=)
|
|
|
NM_001458.5(FLNC):c.3465G>T (p.Pro1155=)
|
|
|
NM_001458.5(FLNC):c.3475C>G (p.Arg1159Gly)
|
rs760500171
|
|
NM_001458.5(FLNC):c.3482_3483delinsTC (p.Ser1161Ile)
|
|
|
NM_001458.5(FLNC):c.3488C>A (p.Pro1163Gln)
|
rs377489161
|
|
NM_001458.5(FLNC):c.3502G>T (p.Gly1168Cys)
|
rs199814952
|
|
NM_001458.5(FLNC):c.3507G>C (p.Lys1169Asn)
|
|
|
NM_001458.5(FLNC):c.3511G>T (p.Gly1171Cys)
|
rs769490872
|
|
NM_001458.5(FLNC):c.3512G>A (p.Gly1171Asp)
|
rs1298622480
|
|
NM_001458.5(FLNC):c.3512G>T (p.Gly1171Val)
|
|
|
NM_001458.5(FLNC):c.3516G>T (p.Glu1172Asp)
|
|
|
NM_001458.5(FLNC):c.3518C>T (p.Ala1173Val)
|
rs1229255608
|
|
NM_001458.5(FLNC):c.352G>A (p.Asp118Asn)
|
|
|
NM_001458.5(FLNC):c.3538T>C (p.Cys1180Arg)
|
|
|
NM_001458.5(FLNC):c.3539G>C (p.Cys1180Ser)
|
|
|
NM_001458.5(FLNC):c.3539G>T (p.Cys1180Phe)
|
rs1319931619
|
|
NM_001458.5(FLNC):c.3541T>C (p.Ser1181Pro)
|
rs2128936467
|
|
NM_001458.5(FLNC):c.3568A>G (p.Ile1190Val)
|
rs1259241248
|
|
NM_001458.5(FLNC):c.356G>T (p.Ser119Ile)
|
|
|
NM_001458.5(FLNC):c.3572A>G (p.Glu1191Gly)
|
rs772055432
|
|
NM_001458.5(FLNC):c.3587C>T (p.Ala1196Val)
|
|
|
NM_001458.5(FLNC):c.3599C>T (p.Ala1200Val)
|
|
|
NM_001458.5(FLNC):c.3601G>A (p.Glu1201Lys)
|
rs751963297
|
|
NM_001458.5(FLNC):c.3601G>C (p.Glu1201Gln)
|
rs751963297
|
|
NM_001458.5(FLNC):c.3618C>A (p.Asn1206Lys)
|
rs1039623010
|
|
NM_001458.5(FLNC):c.3621C>G (p.Asn1207Lys)
|
rs117864464
|
|
NM_001458.5(FLNC):c.3629G>A (p.Gly1210Asp)
|
|
|
NM_001458.5(FLNC):c.3643A>C (p.Thr1215Pro)
|
rs2128936501
|
|
NM_001458.5(FLNC):c.3656C>T (p.Ala1219Val)
|
rs775551445
|
|
NM_001458.5(FLNC):c.365T>C (p.Ile122Thr)
|
rs2128933606
|
|
NM_001458.5(FLNC):c.3671A>G (p.Tyr1224Cys)
|
|
|
NM_001458.5(FLNC):c.3676A>G (p.Ile1226Val)
|
rs1808506817
|
|
NM_001458.5(FLNC):c.3689A>C (p.Tyr1230Ser)
|
|
|
NM_001458.5(FLNC):c.3689A>G (p.Tyr1230Cys)
|
rs863225116
|
|
NM_001458.5(FLNC):c.3692G>A (p.Gly1231Asp)
|
rs1808507457
|
|
NM_001458.5(FLNC):c.3693_3695dup (p.Gly1232dup)
|
rs1808507351
|
|
NM_001458.5(FLNC):c.3694G>A (p.Gly1232Arg)
|
rs754533053
|
|
NM_001458.5(FLNC):c.3700C>T (p.Pro1234Ser)
|
|
|
NM_001458.5(FLNC):c.3703G>A (p.Val1235Met)
|
rs1208885010
|
|
NM_001458.5(FLNC):c.3703G>T (p.Val1235Leu)
|
|
|
NM_001458.5(FLNC):c.370G>T (p.Asp124Tyr)
|
rs1808053038
|
|
NM_001458.5(FLNC):c.3713T>G (p.Phe1238Cys)
|
rs777798089
|
|
NM_001458.5(FLNC):c.371A>C (p.Asp124Ala)
|
|
|
NM_001458.5(FLNC):c.3725T>C (p.Val1242Ala)
|
|
|
NM_001458.5(FLNC):c.3730G>T (p.Val1244Leu)
|
|
|
NM_001458.5(FLNC):c.3761A>C (p.Lys1254Thr)
|
|
|
NM_001458.5(FLNC):c.3781G>C (p.Glu1261Gln)
|
rs747033771
|
|
NM_001458.5(FLNC):c.3790+5G>C
|
rs199917473
|
|
NM_001458.5(FLNC):c.3790G>T (p.Gly1264Cys)
|
rs201335143
|
|
NM_001458.5(FLNC):c.3799C>G (p.Arg1267Gly)
|
rs371483562
|
|
NM_001458.5(FLNC):c.3799C>T (p.Arg1267Trp)
|
rs371483562
|
|
NM_001458.5(FLNC):c.37G>A (p.Gly13Ser)
|
rs760318519
|
|
NM_001458.5(FLNC):c.37G>C (p.Gly13Arg)
|
rs760318519
|
|
NM_001458.5(FLNC):c.3803A>G (p.Glu1268Gly)
|
rs1585161164
|
|
NM_001458.5(FLNC):c.3805G>T (p.Val1269Leu)
|
rs1808547668
|
|
NM_001458.5(FLNC):c.3815A>G (p.Glu1272Gly)
|
|
|
NM_001458.5(FLNC):c.3829G>A (p.Ala1277Thr)
|
rs1808548777
|
|
NM_001458.5(FLNC):c.3829G>T (p.Ala1277Ser)
|
rs1808548777
|
|
NM_001458.5(FLNC):c.3835T>C (p.Ser1279Pro)
|
rs1562997744
|
|
NM_001458.5(FLNC):c.3836C>T (p.Ser1279Phe)
|
|
|
NM_001458.5(FLNC):c.3842C>T (p.Thr1281Ile)
|
rs776862347
|
|
NM_001458.5(FLNC):c.385C>G (p.Leu129Val)
|
|
|
NM_001458.5(FLNC):c.3862G>A (p.Val1288Met)
|
rs750415476
|
|
NM_001458.5(FLNC):c.3862G>C (p.Val1288Leu)
|
rs750415476
|
|
NM_001458.5(FLNC):c.3881A>G (p.Asn1294Ser)
|
rs944103680
|
|
NM_001458.5(FLNC):c.3881A>T (p.Asn1294Ile)
|
rs944103680
|
|
NM_001458.5(FLNC):c.3882C>G (p.Asn1294Lys)
|
rs1808552408
|
|
NM_001458.5(FLNC):c.3883C>G (p.Pro1295Ala)
|
|
|
NM_001458.5(FLNC):c.3887C>G (p.Ser1296Trp)
|
rs747587140
|
|
NM_001458.5(FLNC):c.389T>A (p.Ile130Asn)
|
|
|
NM_001458.5(FLNC):c.3905C>T (p.Thr1302Ile)
|
rs746249435
|
|
NM_001458.5(FLNC):c.3905_3919dup (p.Thr1302_Asp1306dup)
|
rs756167665
|
|
NM_001458.5(FLNC):c.3908A>T (p.Tyr1303Phe)
|
rs1808553804
|
|
NM_001458.5(FLNC):c.3919A>G (p.Asn1307Asp)
|
rs1808554442
|
|
NM_001458.5(FLNC):c.3920A>G (p.Asn1307Ser)
|
|
|
NM_001458.5(FLNC):c.3938G>C (p.Arg1313Pro)
|
rs199804244
|
|
NM_001458.5(FLNC):c.3947A>G (p.Tyr1316Cys)
|
rs2128936781
|
|
NM_001458.5(FLNC):c.3950C>G (p.Thr1317Ser)
|
|
|
NM_001458.5(FLNC):c.3952G>T (p.Ala1318Ser)
|
rs777939926
|
|
NM_001458.5(FLNC):c.3953C>T (p.Ala1318Val)
|
|
|
NM_001458.5(FLNC):c.3964+5G>A
|
rs2128936793
|
|
NM_001458.5(FLNC):c.3964G>C (p.Gly1322Arg)
|
|
|
NM_001458.5(FLNC):c.3967G>A (p.Val1323Met)
|
rs771676134
|
|
NM_001458.5(FLNC):c.3967G>T (p.Val1323Leu)
|
|
|
NM_001458.5(FLNC):c.3968T>G (p.Val1323Gly)
|
rs2128936843
|
|
NM_001458.5(FLNC):c.3982G>A (p.Val1328Ile)
|
rs1585161584
|
|
NM_001458.5(FLNC):c.398T>C (p.Leu133Pro)
|
rs1808053502
|
|
NM_001458.5(FLNC):c.3996G>T (p.Glu1332Asp)
|
|
|
NM_001458.5(FLNC):c.4009A>C (p.Lys1337Gln)
|
rs1554399580
|
|
NM_001458.5(FLNC):c.4016C>T (p.Pro1339Leu)
|
rs1808566825
|
|
NM_001458.5(FLNC):c.4018T>G (p.Phe1340Val)
|
rs775383465
|
|
NM_001458.5(FLNC):c.402C>G (p.Ile134Met)
|
|
|
NM_001458.5(FLNC):c.4052C>T (p.Thr1351Ile)
|
rs1585161671
|
|
NM_001458.5(FLNC):c.4055G>T (p.Arg1352Leu)
|
rs746731567
|
|
NM_001458.5(FLNC):c.4055_4056delinsAT (p.Arg1352His)
|
|
|
NM_001458.5(FLNC):c.405G>T (p.Trp135Cys)
|
rs2128933620
|
|
NM_001458.5(FLNC):c.4069G>T (p.Gly1357Trp)
|
|
|
NM_001458.5(FLNC):c.406A>G (p.Thr136Ala)
|
|
|
NM_001458.5(FLNC):c.4087G>A (p.Gly1363Ser)
|
|
|
NM_001458.5(FLNC):c.4092G>T (p.Leu1364Phe)
|
rs768635501
|
|
NM_001458.5(FLNC):c.4102G>C (p.Ala1368Pro)
|
|
|
NM_001458.5(FLNC):c.4102G>T (p.Ala1368Ser)
|
|
|
NM_001458.5(FLNC):c.4103C>T (p.Ala1368Val)
|
rs896305338
|
|
NM_001458.5(FLNC):c.4105A>G (p.Asn1369Asp)
|
|
|
NM_001458.5(FLNC):c.4106A>G (p.Asn1369Ser)
|
rs1554399615
|
|
NM_001458.5(FLNC):c.4108C>G (p.Arg1370Gly)
|
rs1342121466
|
|
NM_001458.5(FLNC):c.4111T>C (p.Phe1371Leu)
|
|
|
NM_001458.5(FLNC):c.4120G>A (p.Glu1374Lys)
|
|
|
NM_001458.5(FLNC):c.4127+5C>A
|
|
|
NM_001458.5(FLNC):c.4127+5C>T
|
rs2128936919
|
|
NM_001458.5(FLNC):c.4128-11T>G
|
|
|
NM_001458.5(FLNC):c.4129G>A (p.Gly1377Arg)
|
rs768725407
|
|
NM_001458.5(FLNC):c.4129G>C (p.Gly1377Arg)
|
|
|
NM_001458.5(FLNC):c.4130G>C (p.Gly1377Ala)
|
|
|
NM_001458.5(FLNC):c.4132G>A (p.Ala1378Thr)
|
|
|
NM_001458.5(FLNC):c.4132G>T (p.Ala1378Ser)
|
|
|
NM_001458.5(FLNC):c.4141G>T (p.Gly1381Trp)
|
rs766513255
|
|
NM_001458.5(FLNC):c.4142G>A (p.Gly1381Glu)
|
rs2128937018
|
|
NM_001458.5(FLNC):c.4145G>A (p.Gly1382Asp)
|
rs1808586180
|
|
NM_001458.5(FLNC):c.4159A>C (p.Ile1387Leu)
|
|
|
NM_001458.5(FLNC):c.4159A>G (p.Ile1387Val)
|
rs1032003580
|
|
NM_001458.5(FLNC):c.4162G>A (p.Glu1388Lys)
|
|
|
NM_001458.5(FLNC):c.4171_4227del (p.Ser1391_Tyr1409del)
|
|
|
NM_001458.5(FLNC):c.4181A>C (p.Lys1394Thr)
|
|
|
NM_001458.5(FLNC):c.4184T>A (p.Met1395Lys)
|
rs1372801269
|
|
NM_001458.5(FLNC):c.4185G>A (p.Met1395Ile)
|
rs2128937035
|
|
NM_001458.5(FLNC):c.4197CAA[1] (p.Asn1400del)
|
rs1167620763
|
|
NM_001458.5(FLNC):c.4202A>C (p.Lys1401Thr)
|
rs1808588600
|
|
NM_001458.5(FLNC):c.4202A>G (p.Lys1401Arg)
|
rs1808588600
|
|
NM_001458.5(FLNC):c.421T>C (p.Tyr141His)
|
|
|
NM_001458.5(FLNC):c.4224G>T (p.Glu1408Asp)
|
|
|
NM_001458.5(FLNC):c.4255G>A (p.Val1419Ile)
|
rs1432229476
|
|
NM_001458.5(FLNC):c.4256T>C (p.Val1419Ala)
|
rs2128937054
|
|
NM_001458.5(FLNC):c.4257C>A (p.Val1419=)
|
|
|
NM_001458.5(FLNC):c.4276C>T (p.Arg1426Trp)
|
|
|
NM_001458.5(FLNC):c.4277G>C (p.Arg1426Pro)
|
rs764452839
|
|
NM_001458.5(FLNC):c.4279C>T (p.Pro1427Ser)
|
|
|
NM_001458.5(FLNC):c.4280C>T (p.Pro1427Leu)
|
rs1192906461
|
|
NM_001458.5(FLNC):c.4287A>C (p.Pro1429=)
|
rs1808591761
|
|
NM_001458.5(FLNC):c.4288G>A (p.Gly1430Arg)
|
|
|
NM_001458.5(FLNC):c.4289-3C>A
|
|
|
NM_001458.5(FLNC):c.4292G>T (p.Ser1431Ile)
|
|
|
NM_001458.5(FLNC):c.4293C>A (p.Ser1431Arg)
|
|
|
NM_001458.5(FLNC):c.4298T>A (p.Phe1433Tyr)
|
rs2128937234
|
|
NM_001458.5(FLNC):c.4299C>A (p.Phe1433Leu)
|
|
|
NM_001458.5(FLNC):c.4301G>A (p.Arg1434His)
|
rs143623535
|
|
NM_001458.5(FLNC):c.4301G>C (p.Arg1434Pro)
|
|
|
NM_001458.5(FLNC):c.4309G>T (p.Val1437Leu)
|
rs1445187487
|
|
NM_001458.5(FLNC):c.4315G>A (p.Asp1439Asn)
|
rs1562998835
|
|
NM_001458.5(FLNC):c.4318G>A (p.Val1440Met)
|
|
|
NM_001458.5(FLNC):c.431C>T (p.Ser144Phe)
|
rs1225645939
|
|
NM_001458.5(FLNC):c.4321G>A (p.Val1441Met)
|
|
|
NM_001458.5(FLNC):c.4324G>A (p.Asp1442Asn)
|
|
|
NM_001458.5(FLNC):c.4326C>A (p.Asp1442Glu)
|
rs1458536220
|
|
NM_001458.5(FLNC):c.4342T>C (p.Cys1448Arg)
|
rs976487545
|
|
NM_001458.5(FLNC):c.4352C>G (p.Pro1451Arg)
|
|
|
NM_001458.5(FLNC):c.4378C>G (p.Arg1460Gly)
|
|
|
NM_001458.5(FLNC):c.4387C>G (p.Gln1463Glu)
|
rs1808623920
|
|
NM_001458.5(FLNC):c.4399G>A (p.Val1467Met)
|
|
|
NM_001458.5(FLNC):c.4415C>T (p.Ala1472Val)
|
|
|
NM_001458.5(FLNC):c.4418G>A (p.Gly1473Asp)
|
rs1174959724
|
|
NM_001458.5(FLNC):c.4423G>T (p.Ala1475Ser)
|
rs982026083
|
|
NM_001458.5(FLNC):c.4426C>A (p.Pro1476Thr)
|
|
|
NM_001458.5(FLNC):c.4435G>C (p.Val1479Leu)
|
|
|
NM_001458.5(FLNC):c.4445T>C (p.Leu1482Pro)
|
|
|
NM_001458.5(FLNC):c.446A>T (p.Glu149Val)
|
rs1808055544
|
|
NM_001458.5(FLNC):c.4475A>C (p.Glu1492Ala)
|
|
|
NM_001458.5(FLNC):c.4481G>A (p.Arg1494Gln)
|
rs1241325618
|
|
NM_001458.5(FLNC):c.4484A>G (p.Asp1495Gly)
|
|
|
NM_001458.5(FLNC):c.4487A>G (p.Asn1496Ser)
|
|
|
NM_001458.5(FLNC):c.4492G>T (p.Asp1498Tyr)
|
|
|
NM_001458.5(FLNC):c.4493A>G (p.Asp1498Gly)
|
|
|
NM_001458.5(FLNC):c.4496G>A (p.Gly1499Asp)
|
|
|
NM_001458.5(FLNC):c.4497C>T (p.Gly1499=)
|
rs1808633213
|
|
NM_001458.5(FLNC):c.4507G>A (p.Val1503Ile)
|
|
|
NM_001458.5(FLNC):c.4516A>G (p.Thr1506Ala)
|
rs771974318
|
|
NM_001458.5(FLNC):c.4517C>G (p.Thr1506Ser)
|
rs1808634430
|
|
NM_001458.5(FLNC):c.4519C>A (p.Pro1507Thr)
|
|
|
NM_001458.5(FLNC):c.4519C>G (p.Pro1507Ala)
|
|
|
NM_001458.5(FLNC):c.451G>A (p.Glu151Lys)
|
rs1354261792
|
|
NM_001458.5(FLNC):c.4531G>A (p.Gly1511Arg)
|
rs1445118718
|
|
NM_001458.5(FLNC):c.4537T>C (p.Tyr1513His)
|
|
|
NM_001458.5(FLNC):c.4540A>G (p.Thr1514Ala)
|
|
|
NM_001458.5(FLNC):c.4550T>C (p.Val1517Ala)
|
|
|
NM_001458.5(FLNC):c.4550T>G (p.Val1517Gly)
|
|
|
NM_001458.5(FLNC):c.4562A>C (p.Asp1521Ala)
|
|
|
NM_001458.5(FLNC):c.4564C>A (p.Gln1522Lys)
|
|
|
NM_001458.5(FLNC):c.4566G>T (p.Gln1522His)
|
rs559667295
|
|
NM_001458.5(FLNC):c.4570G>A (p.Val1524Met)
|
rs1358403336
|
|
NM_001458.5(FLNC):c.4576C>G (p.Arg1526Gly)
|
rs746275035
|
|
NM_001458.5(FLNC):c.4580+4A>G
|
|
|
NM_001458.5(FLNC):c.4580+5G>A
|
|
|
NM_001458.5(FLNC):c.4581C>A (p.Ser1527Arg)
|
rs2128937518
|
|
NM_001458.5(FLNC):c.4593C>G (p.Ile1531Met)
|
rs371988433
|
|
NM_001458.5(FLNC):c.4598T>A (p.Val1533Asp)
|
|
|
NM_001458.5(FLNC):c.4604C>A (p.Pro1535Gln)
|
|
|
NM_001458.5(FLNC):c.4607C>T (p.Ala1536Val)
|
rs1808665032
|
|
NM_001458.5(FLNC):c.460G>A (p.Glu154Lys)
|
|
|
NM_001458.5(FLNC):c.4616C>T (p.Ala1539Val)
|
rs770746660
|
|
NM_001458.5(FLNC):c.4621A>G (p.Lys1541Glu)
|
|
|
NM_001458.5(FLNC):c.4631C>A (p.Ala1544Asp)
|
|
|
NM_001458.5(FLNC):c.4634G>T (p.Ser1545Ile)
|
rs2128937535
|
|
NM_001458.5(FLNC):c.4636G>T (p.Gly1546Cys)
|
rs774263134
|
|
NM_001458.5(FLNC):c.4639C>T (p.Pro1547Ser)
|
rs2128937538
|
|
NM_001458.5(FLNC):c.4645C>T (p.Leu1549Phe)
|
rs2128937539
|
|
NM_001458.5(FLNC):c.4649A>G (p.Asn1550Ser)
|
|
|
NM_001458.5(FLNC):c.4655C>T (p.Ser1552Phe)
|
|
|
NM_001458.5(FLNC):c.4675C>A (p.Pro1559Thr)
|
|
|
NM_001458.5(FLNC):c.4678G>A (p.Val1560Met)
|
rs1351915127
|
|
NM_001458.5(FLNC):c.4687A>C (p.Thr1563Pro)
|
rs1490741362
|
|
NM_001458.5(FLNC):c.4697C>G (p.Ala1566Gly)
|
rs1808670044
|
|
NM_001458.5(FLNC):c.4698_4699delinsTT (p.Arg1567Trp)
|
rs2128937563
|
|
NM_001458.5(FLNC):c.469C>G (p.Arg157Gly)
|
rs759739899
|
|
NM_001458.5(FLNC):c.46G>T (p.Asp16Tyr)
|
rs1807849615
|
|
NM_001458.5(FLNC):c.4700G>T (p.Arg1567Leu)
|
rs2291569
|
|
NM_001458.5(FLNC):c.4708G>T (p.Gly1570Cys)
|
rs1562999563
|
|
NM_001458.5(FLNC):c.472A>C (p.Lys158Gln)
|
|
|
NM_001458.5(FLNC):c.4732A>G (p.Ile1578Val)
|
|
|
NM_001458.5(FLNC):c.4737+5G>A
|
rs1808673722
|
|
NM_001458.5(FLNC):c.4740C>A (p.Asp1580Glu)
|
|
|
NM_001458.5(FLNC):c.4742C>A (p.Pro1581His)
|
rs1365087680
|
|
NM_001458.5(FLNC):c.4747G>A (p.Gly1583Ser)
|
rs2128937618
|
|
NM_001458.5(FLNC):c.4748G>C (p.Gly1583Ala)
|
|
|
NM_001458.5(FLNC):c.4768A>G (p.Ile1590Val)
|
|
|
NM_001458.5(FLNC):c.4769T>G (p.Ile1590Ser)
|
rs1808679455
|
|
NM_001458.5(FLNC):c.4775A>G (p.Asp1592Gly)
|
rs1808679952
|
|
NM_001458.5(FLNC):c.4775A>T (p.Asp1592Val)
|
|
|
NM_001458.5(FLNC):c.4783G>A (p.Asp1595Asn)
|
rs780133859
|
|
NM_001458.5(FLNC):c.4796C>T (p.Thr1599Ile)
|
rs2128937641
|
|
NM_001458.5(FLNC):c.4808T>C (p.Leu1603Pro)
|
|
|
NM_001458.5(FLNC):c.4811C>T (p.Pro1604Leu)
|
rs778021239
|
|
NM_001458.5(FLNC):c.4817T>A (p.Met1606Lys)
|
rs1808683017
|
|
NM_001458.5(FLNC):c.4825C>G (p.Arg1609Gly)
|
rs374756527
|
|
NM_001458.5(FLNC):c.4826G>A (p.Arg1609Gln)
|
rs1168628508
|
|
NM_001458.5(FLNC):c.4832C>T (p.Thr1611Ile)
|
rs1025308371
|
|
NM_001458.5(FLNC):c.4858G>A (p.Glu1620Lys)
|
rs1808685152
|
|
NM_001458.5(FLNC):c.4868A>G (p.Tyr1623Cys)
|
rs1585164018
|
|
NM_001458.5(FLNC):c.4873C>T (p.Pro1625Ser)
|
rs2128937664
|
|
NM_001458.5(FLNC):c.4874C>T (p.Pro1625Leu)
|
rs1585164029
|
|
NM_001458.5(FLNC):c.4880G>T (p.Arg1627Leu)
|
rs751592993
|
|
NM_001458.5(FLNC):c.4887T>A (p.His1629Gln)
|
rs1585164043
|
|
NM_001458.5(FLNC):c.4888G>T (p.Ala1630Ser)
|
rs1479430297
|
|
NM_001458.5(FLNC):c.4897A>G (p.Thr1633Ala)
|
|
|
NM_001458.5(FLNC):c.4914G>T (p.Lys1638Asn)
|
|
|
NM_001458.5(FLNC):c.491G>A (p.Arg164Gln)
|
|
|
NM_001458.5(FLNC):c.4925C>T (p.Thr1642Ile)
|
rs756074974
|
|
NM_001458.5(FLNC):c.4926A>G (p.Thr1642=)
|
rs1808689032
|
|
NM_001458.5(FLNC):c.4927+3G>A
|
rs2128937684
|
|
NM_001458.5(FLNC):c.4927+5G>A
|
rs1808689249
|
|
NM_001458.5(FLNC):c.4931C>G (p.Ser1644Cys)
|
rs1808699932
|
|
NM_001458.5(FLNC):c.4934T>C (p.Ile1645Thr)
|
|
|
NM_001458.5(FLNC):c.4937G>A (p.Gly1646Glu)
|
|
|
NM_001458.5(FLNC):c.4939G>A (p.Gly1647Ser)
|
rs748563858
|
|
NM_001458.5(FLNC):c.4940G>T (p.Gly1647Val)
|
|
|
NM_001458.5(FLNC):c.4969C>G (p.Arg1657Gly)
|
rs1563000044
|
|
NM_001458.5(FLNC):c.4970G>T (p.Arg1657Leu)
|
|
|
NM_001458.5(FLNC):c.4981G>A (p.Gly1661Arg)
|
rs2128937796
|
|
NM_001458.5(FLNC):c.4988A>G (p.Glu1663Gly)
|
|
|
NM_001458.5(FLNC):c.49G>A (p.Glu17Lys)
|
|
|
NM_001458.5(FLNC):c.4A>G (p.Met2Val)
|
|
|
NM_001458.5(FLNC):c.5000C>G (p.Thr1667Arg)
|
|
|
NM_001458.5(FLNC):c.5011A>G (p.Lys1671Glu)
|
rs1563000088
|
|
NM_001458.5(FLNC):c.5013G>T (p.Lys1671Asn)
|
|
|
NM_001458.5(FLNC):c.5021_5023del (p.Gly1674del)
|
|
|
NM_001458.5(FLNC):c.5026G>A (p.Gly1676Arg)
|
rs1585164542
|
|
NM_001458.5(FLNC):c.5027G>A (p.Gly1676Glu)
|
|
|
NM_001458.5(FLNC):c.5029A>C (p.Lys1677Gln)
|
rs1554400214
|
|
NM_001458.5(FLNC):c.5036C>A (p.Thr1679Lys)
|
rs1364205864
|
|
NM_001458.5(FLNC):c.5039G>C (p.Cys1680Ser)
|
rs552930634
|
|
NM_001458.5(FLNC):c.5041A>G (p.Thr1681Ala)
|
|
|
NM_001458.5(FLNC):c.5044G>C (p.Val1682Leu)
|
|
|
NM_001458.5(FLNC):c.5056G>T (p.Asp1686Tyr)
|
|
|
NM_001458.5(FLNC):c.5059G>A (p.Gly1687Arg)
|
rs1808713041
|
|
NM_001458.5(FLNC):c.5064_5084dup (p.Leu1690_Glu1696dup)
|
rs1808713133
|
|
NM_001458.5(FLNC):c.5083G>A (p.Val1695Ile)
|
|
|
NM_001458.5(FLNC):c.5084T>C (p.Val1695Ala)
|
|
|
NM_001458.5(FLNC):c.5088G>C (p.Glu1696Asp)
|
rs1563000172
|
|
NM_001458.5(FLNC):c.5110A>G (p.Ile1704Val)
|
rs2128937827
|
|
NM_001458.5(FLNC):c.5114A>T (p.Tyr1705Phe)
|
|
|
NM_001458.5(FLNC):c.5117A>G (p.Tyr1706Cys)
|
|
|
NM_001458.5(FLNC):c.5123C>T (p.Ala1708Val)
|
rs1011817473
|
|
NM_001458.5(FLNC):c.5135G>A (p.Gly1712Asp)
|
|
|
NM_001458.5(FLNC):c.5135G>C (p.Gly1712Ala)
|
rs2128937832
|
|
NM_001458.5(FLNC):c.5149A>T (p.Thr1717Ser)
|
|
|
NM_001458.5(FLNC):c.5160C>A (p.Phe1720Leu)
|
|
|
NM_001458.5(FLNC):c.5161G>A (p.Gly1721Arg)
|
rs759786433
|
|
NM_001458.5(FLNC):c.5162G>A (p.Gly1721Glu)
|
rs1181189567
|
|
NM_001458.5(FLNC):c.5163G>A (p.Gly1721=)
|
|
|
NM_001458.5(FLNC):c.5164G>A (p.Gly1722Ser)
|
rs765591354
|
|
NM_001458.5(FLNC):c.5165G>A (p.Gly1722Asp)
|
|
|
NM_001458.5(FLNC):c.5170C>T (p.His1724Tyr)
|
rs2128937841
|
|
NM_001458.5(FLNC):c.5179A>G (p.Asn1727Asp)
|
rs2128937845
|
|
NM_001458.5(FLNC):c.5180A>G (p.Asn1727Ser)
|
rs1808718121
|
|
NM_001458.5(FLNC):c.5182A>G (p.Ser1728Gly)
|
rs1554400248
|
|
NM_001458.5(FLNC):c.5183G>A (p.Ser1728Asn)
|
|
|
NM_001458.5(FLNC):c.5194G>C (p.Val1732Leu)
|
|
|
NM_001458.5(FLNC):c.5199+6T>G
|
|
|
NM_001458.5(FLNC):c.519_525delinsT (p.Pro174_Gln175del)
|
rs1808059318
|
|
NM_001458.5(FLNC):c.5200-18C>G
|
|
|
NM_001458.5(FLNC):c.5200G>A (p.Ala1734Thr)
|
rs1359496906
|
|
NM_001458.5(FLNC):c.5201C>T (p.Ala1734Val)
|
rs751149867
|
|
NM_001458.5(FLNC):c.5205T>G (p.Cys1735Trp)
|
|
|
NM_001458.5(FLNC):c.5208C>A (p.Asp1736Glu)
|
rs1291689149
|
|
NM_001458.5(FLNC):c.520C>T (p.Pro174Ser)
|
rs1350019040
|
|
NM_001458.5(FLNC):c.5216C>A (p.Pro1739Gln)
|
rs745650222
|
|
NM_001458.5(FLNC):c.5231C>T (p.Pro1744Leu)
|
|
|
NM_001458.5(FLNC):c.5233T>A (p.Ser1745Thr)
|
|
|
NM_001458.5(FLNC):c.5238A>C (p.Glu1746Asp)
|
rs1563000552
|
|
NM_001458.5(FLNC):c.5239G>A (p.Val1747Met)
|
rs764373507
|
|
NM_001458.5(FLNC):c.5246A>C (p.Gln1749Pro)
|
|
|
NM_001458.5(FLNC):c.5248C>A (p.Leu1750Met)
|
|
|
NM_001458.5(FLNC):c.525G>C (p.Gln175His)
|
|
|
NM_001458.5(FLNC):c.5261A>G (p.Tyr1754Cys)
|
rs1330454582
|
|
NM_001458.5(FLNC):c.5264C>T (p.Ala1755Val)
|
rs1286156977
|
|
NM_001458.5(FLNC):c.5265TCC[1] (p.Pro1757del)
|
rs1808740121
|
|
NM_001458.5(FLNC):c.5272C>G (p.Arg1758Gly)
|
rs369187211
|
|
NM_001458.5(FLNC):c.5273G>T (p.Arg1758Leu)
|
|
|
NM_001458.5(FLNC):c.5279G>A (p.Gly1760Asp)
|
rs1808741985
|
|
NM_001458.5(FLNC):c.5285G>C (p.Arg1762Pro)
|
|
|
NM_001458.5(FLNC):c.5299-17C>G
|
|
|
NM_001458.5(FLNC):c.5306A>G (p.Glu1769Gly)
|
|
|
NM_001458.5(FLNC):c.5306_5314del (p.Glu1769_Pro1771del)
|
rs2128938073
|
|
NM_001458.5(FLNC):c.5307G>C (p.Glu1769Asp)
|
rs1808756761
|
|
NM_001458.5(FLNC):c.5311C>A (p.Pro1771Thr)
|
|
|
NM_001458.5(FLNC):c.5317G>A (p.Val1773Met)
|
|
|
NM_001458.5(FLNC):c.5321C>G (p.Pro1774Arg)
|
rs1273796039
|
|
NM_001458.5(FLNC):c.5323G>A (p.Val1775Met)
|
|
|
NM_001458.5(FLNC):c.5323G>T (p.Val1775Leu)
|
|
|
NM_001458.5(FLNC):c.532A>T (p.Ile178Phe)
|
|
|
NM_001458.5(FLNC):c.5339C>A (p.Ser1780Tyr)
|
|
|
NM_001458.5(FLNC):c.5343G>A (p.Met1781Ile)
|
rs1554400464
|
|
NM_001458.5(FLNC):c.5354T>C (p.Phe1785Ser)
|
rs1808758860
|
|
NM_001458.5(FLNC):c.5358C>G (p.Asn1786Lys)
|
rs1311819055
|
|
NM_001458.5(FLNC):c.535A>T (p.Thr179Ser)
|
|
|
NM_001458.5(FLNC):c.5362G>T (p.Val1788Phe)
|
rs1808759348
|
|
NM_001458.5(FLNC):c.5365A>G (p.Ile1789Val)
|
|
|
NM_001458.5(FLNC):c.5372T>A (p.Phe1791Tyr)
|
rs2128938095
|
|
NM_001458.5(FLNC):c.5398G>A (p.Gly1800Arg)
|
rs2128938108
|
|
NM_001458.5(FLNC):c.5412G>C (p.Met1804Ile)
|
|
|
NM_001458.5(FLNC):c.5413C>A (p.Pro1805Thr)
|
rs1808775264
|
|
NM_001458.5(FLNC):c.5414C>T (p.Pro1805Leu)
|
rs2128938211
|
|
NM_001458.5(FLNC):c.5430_5431inv (p.Arg1811Trp)
|
|
|
NM_001458.5(FLNC):c.5438A>G (p.Asn1813Ser)
|
|
|
NM_001458.5(FLNC):c.5444C>T (p.Thr1815Ile)
|
rs1361160043
|
|
NM_001458.5(FLNC):c.5448CAA[1] (p.Asn1817del)
|
rs1312829675
|
|
NM_001458.5(FLNC):c.5452A>C (p.Lys1818Gln)
|
|
|
NM_001458.5(FLNC):c.5455G>A (p.Asp1819Asn)
|
rs1808778177
|
|
NM_001458.5(FLNC):c.5455G>T (p.Asp1819Tyr)
|
rs1808778177
|
|
NM_001458.5(FLNC):c.5456A>T (p.Asp1819Val)
|
rs2128938237
|
|
NM_001458.5(FLNC):c.5459G>A (p.Gly1820Asp)
|
|
|
NM_001458.5(FLNC):c.5464A>G (p.Ile1822Val)
|
|
|
NM_001458.5(FLNC):c.5464A>T (p.Ile1822Phe)
|
|
|
NM_001458.5(FLNC):c.5470G>A (p.Val1824Met)
|
rs1808779198
|
|
NM_001458.5(FLNC):c.5483C>T (p.Pro1828Leu)
|
rs2128938246
|
|
NM_001458.5(FLNC):c.5486C>T (p.Thr1829Ile)
|
rs1585166066
|
|
NM_001458.5(FLNC):c.5489A>G (p.Glu1830Gly)
|
|
|
NM_001458.5(FLNC):c.5491A>G (p.Lys1831Glu)
|
rs374126692
|
|
NM_001458.5(FLNC):c.5495G>T (p.Gly1832Val)
|
rs1808780127
|
|
NM_001458.5(FLNC):c.5504A>C (p.Gln1835Pro)
|
|
|
NM_001458.5(FLNC):c.5505G>C (p.Gln1835His)
|
|
|
NM_001458.5(FLNC):c.5506A>C (p.Met1836Leu)
|
rs1808780678
|
|
NM_001458.5(FLNC):c.5518T>A (p.Tyr1840Asn)
|
|
|
NM_001458.5(FLNC):c.5528A>G (p.Asn1843Ser)
|
|
|
NM_001458.5(FLNC):c.5530C>T (p.His1844Tyr)
|
|
|
NM_001458.5(FLNC):c.5537C>T (p.Pro1846Leu)
|
rs1408298919
|
|
NM_001458.5(FLNC):c.5545C>A (p.Pro1849Thr)
|
rs1808798354
|
|
NM_001458.5(FLNC):c.5546C>A (p.Pro1849His)
|
|
|
NM_001458.5(FLNC):c.5558A>G (p.Tyr1853Cys)
|
|
|
NM_001458.5(FLNC):c.5560G>A (p.Val1854Met)
|
|
|
NM_001458.5(FLNC):c.5560G>C (p.Val1854Leu)
|
|
|
NM_001458.5(FLNC):c.5564A>G (p.Asp1855Gly)
|
|
|
NM_001458.5(FLNC):c.5564A>T (p.Asp1855Val)
|
|
|
NM_001458.5(FLNC):c.5576G>A (p.Ser1859Asn)
|
|
|
NM_001458.5(FLNC):c.5581C>T (p.His1861Tyr)
|
|
|
NM_001458.5(FLNC):c.5588G>A (p.Ser1863Asn)
|
rs1224825896
|
|
NM_001458.5(FLNC):c.5618T>A (p.Met1873Lys)
|
rs1808801511
|
|
NM_001458.5(FLNC):c.5624A>G (p.Asn1875Ser)
|
rs1808801761
|
|
NM_001458.5(FLNC):c.5651C>T (p.Thr1884Ile)
|
rs1064796546
|
|
NM_001458.5(FLNC):c.5666A>G (p.Glu1889Gly)
|
|
|
NM_001458.5(FLNC):c.5668+3G>A
|
rs1563001474
|
|
NM_001458.5(FLNC):c.5668+6G>A
|
rs773119692
|
|
NM_001458.5(FLNC):c.5668G>T (p.Gly1890Trp)
|
rs1808803000
|
|
NM_001458.5(FLNC):c.5671G>T (p.Gly1891Cys)
|
rs2128938427
|
|
NM_001458.5(FLNC):c.5672G>A (p.Gly1891Asp)
|
rs1808808728
|
|
NM_001458.5(FLNC):c.5672G>T (p.Gly1891Val)
|
|
|
NM_001458.5(FLNC):c.5677_5682del (p.Ser1893_Leu1894del)
|
rs1425063581
|
|
NM_001458.5(FLNC):c.5681T>G (p.Leu1894Arg)
|
rs2128938434
|
|
NM_001458.5(FLNC):c.5687T>G (p.Val1896Gly)
|
|
|
NM_001458.5(FLNC):c.5690A>G (p.Glu1897Gly)
|
|
|
NM_001458.5(FLNC):c.5693G>A (p.Gly1898Asp)
|
rs1808809802
|
|
NM_001458.5(FLNC):c.5696C>T (p.Pro1899Leu)
|
|
|
NM_001458.5(FLNC):c.5698T>C (p.Ser1900Pro)
|
|
|
NM_001458.5(FLNC):c.5700_5701insTGT (p.Ser1900_Lys1901insCys)
|
|
|
NM_001458.5(FLNC):c.5705C>A (p.Ala1902Glu)
|
|
|
NM_001458.5(FLNC):c.5713A>G (p.Thr1905Ala)
|
rs1808810815
|
|
NM_001458.5(FLNC):c.5714C>T (p.Thr1905Ile)
|
|
|
NM_001458.5(FLNC):c.5716T>C (p.Cys1906Arg)
|
rs1585166667
|
|
NM_001458.5(FLNC):c.5723A>C (p.Asp1908Ala)
|
rs2128938447
|
|
NM_001458.5(FLNC):c.5724C>A (p.Asp1908Glu)
|
rs2128938449
|
|
NM_001458.5(FLNC):c.5724CAA[1] (p.Asn1909del)
|
rs780830196
|
|
NM_001458.5(FLNC):c.5727C>A (p.Asn1909Lys)
|
|
|
NM_001458.5(FLNC):c.5750C>G (p.Ser1917Cys)
|
|
|
NM_001458.5(FLNC):c.5753A>G (p.Tyr1918Cys)
|
rs1808812647
|
|
NM_001458.5(FLNC):c.5770G>A (p.Gly1924Arg)
|
rs1585166739
|
|
NM_001458.5(FLNC):c.5776T>G (p.Tyr1926Asp)
|
rs1808814546
|
|
NM_001458.5(FLNC):c.5779A>G (p.Ser1927Gly)
|
rs369518785
|
|
NM_001458.5(FLNC):c.5785A>G (p.Ile1929Val)
|
|
|
NM_001458.5(FLNC):c.5797G>A (p.Asp1933Asn)
|
rs762297336
|
|
NM_001458.5(FLNC):c.5797G>T (p.Asp1933Tyr)
|
|
|
NM_001458.5(FLNC):c.5803A>G (p.Lys1935Glu)
|
rs1808817011
|
|
NM_001458.5(FLNC):c.5807A>C (p.His1936Pro)
|
rs1454768847
|
|
NM_001458.5(FLNC):c.5810T>A (p.Ile1937Asn)
|
rs1585166795
|
|
NM_001458.5(FLNC):c.5813C>T (p.Pro1938Leu)
|
rs764747370
|
|
NM_001458.5(FLNC):c.5819G>T (p.Ser1940Ile)
|
rs2128938494
|
|
NM_001458.5(FLNC):c.5822C>T (p.Pro1941Leu)
|
rs1808818042
|
|
NM_001458.5(FLNC):c.5826C>G (p.Phe1942Leu)
|
rs567779611
|
|
NM_001458.5(FLNC):c.5836A>G (p.Ile1946Val)
|
rs2128938499
|
|
NM_001458.5(FLNC):c.5837T>C (p.Ile1946Thr)
|
rs1808818903
|
|
NM_001458.5(FLNC):c.583G>A (p.Val195Met)
|
rs770955703
|
|
NM_001458.5(FLNC):c.5842+3G>A
|
rs2128938504
|
|
NM_001458.5(FLNC):c.5842+5G>C
|
rs1254947768
|
|
NM_001458.5(FLNC):c.5849A>G (p.Asp1950Gly)
|
|
|
NM_001458.5(FLNC):c.5854A>G (p.Met1952Val)
|
|
|
NM_001458.5(FLNC):c.587A>T (p.Asp196Val)
|
rs2128933694
|
|
NM_001458.5(FLNC):c.5882C>G (p.Thr1961Ser)
|
|
|
NM_001458.5(FLNC):c.5882C>T (p.Thr1961Ile)
|
rs1808867682
|
|
NM_001458.5(FLNC):c.5888C>A (p.Thr1963Lys)
|
rs772580545
|
|
NM_001458.5(FLNC):c.5893G>A (p.Val1965Met)
|
rs771255247
|
|
NM_001458.5(FLNC):c.5894T>G (p.Val1965Gly)
|
rs1585167670
|
|
NM_001458.5(FLNC):c.5906T>C (p.Ile1969Thr)
|
|
|
NM_001458.5(FLNC):c.5909C>T (p.Thr1970Ile)
|
rs1563002254
|
|
NM_001458.5(FLNC):c.5911G>A (p.Glu1971Lys)
|
|
|
NM_001458.5(FLNC):c.5919T>A (p.Asp1973Glu)
|
rs767053963
|
|
NM_001458.5(FLNC):c.5941A>G (p.Ile1981Val)
|
rs1808870602
|
|
NM_001458.5(FLNC):c.595G>A (p.Ala199Thr)
|
rs1410315376
|
|
NM_001458.5(FLNC):c.5978T>G (p.Leu1993Arg)
|
rs1808872550
|
|
NM_001458.5(FLNC):c.5990C>T (p.Pro1997Leu)
|
|
|
NM_001458.5(FLNC):c.5993A>C (p.Asn1998Thr)
|
|
|
NM_001458.5(FLNC):c.5994C>A (p.Asn1998Lys)
|
|
|
NM_001458.5(FLNC):c.5T>C (p.Met2Thr)
|
|
|
NM_001458.5(FLNC):c.6002T>C (p.Ile2001Thr)
|
rs1554400940
|
|
NM_001458.5(FLNC):c.6004+3G>A
|
|
|
NM_001458.5(FLNC):c.6005-14C>G
|
rs1012108263
|
|
NM_001458.5(FLNC):c.6008T>A (p.Ile2003Asn)
|
|
|
NM_001458.5(FLNC):c.601G>A (p.Gly201Ser)
|
rs1808062939
|
|
NM_001458.5(FLNC):c.601G>C (p.Gly201Arg)
|
|
|
NM_001458.5(FLNC):c.602-3C>T
|
rs774453069
|
|
NM_001458.5(FLNC):c.6020C>T (p.Pro2007Leu)
|
rs2128938868
|
|
NM_001458.5(FLNC):c.6023A>G (p.Lys2008Arg)
|
|
|
NM_001458.5(FLNC):c.6039C>A (p.His2013Gln)
|
|
|
NM_001458.5(FLNC):c.6040G>C (p.Val2014Leu)
|
rs772477251
|
|
NM_001458.5(FLNC):c.6049G>T (p.Val2017Leu)
|
|
|
NM_001458.5(FLNC):c.6050T>G (p.Val2017Gly)
|
rs2128938884
|
|
NM_001458.5(FLNC):c.6058A>T (p.Ser2020Cys)
|
rs537114122
|
|
NM_001458.5(FLNC):c.6062G>A (p.Gly2021Asp)
|
rs1439304519
|
|
NM_001458.5(FLNC):c.6063C>T (p.Gly2021=)
|
|
|
NM_001458.5(FLNC):c.6074C>T (p.Thr2025Ile)
|
rs767695121
|
|
NM_001458.5(FLNC):c.6095T>C (p.Leu2032Pro)
|
rs1554400980
|
|
NM_001458.5(FLNC):c.6104C>T (p.Pro2035Leu)
|
rs1808884606
|
|
NM_001458.5(FLNC):c.6106T>G (p.Ser2036Ala)
|
|
|
NM_001458.5(FLNC):c.6112A>C (p.Ile2038Leu)
|
rs2128938907
|
|
NM_001458.5(FLNC):c.6114C>G (p.Ile2038Met)
|
rs559639511
|
|
NM_001458.5(FLNC):c.6121G>A (p.Ala2041Thr)
|
rs745842738
|
|
NM_001458.5(FLNC):c.6121G>T (p.Ala2041Ser)
|
rs745842738
|
|
NM_001458.5(FLNC):c.6122C>A (p.Ala2041Asp)
|
rs1585168065
|
|
NM_001458.5(FLNC):c.6129G>T (p.Lys2043Asn)
|
|
|
NM_001458.5(FLNC):c.6130G>T (p.Val2044Leu)
|
|
|
NM_001458.5(FLNC):c.6133C>A (p.Arg2045=)
|
rs762748670
|
|
NM_001458.5(FLNC):c.6133C>T (p.Arg2045Trp)
|
|
|
NM_001458.5(FLNC):c.6134G>C (p.Arg2045Pro)
|
|
|
NM_001458.5(FLNC):c.6136G>A (p.Val2046Ile)
|
|
|
NM_001458.5(FLNC):c.6136G>T (p.Val2046Phe)
|
|
|
NM_001458.5(FLNC):c.6148G>A (p.Gly2050Arg)
|
rs1585168103
|
|
NM_001458.5(FLNC):c.6152T>G (p.Leu2051Arg)
|
rs2128938929
|
|
NM_001458.5(FLNC):c.6160G>A (p.Gly2054Arg)
|
rs1808887627
|
|
NM_001458.5(FLNC):c.6166A>G (p.Thr2056Ala)
|
rs1808887741
|
|
NM_001458.5(FLNC):c.6170T>C (p.Phe2057Ser)
|
rs1554400996
|
|
NM_001458.5(FLNC):c.6173A>G (p.Gln2058Arg)
|
|
|
NM_001458.5(FLNC):c.6178G>A (p.Ala2060Thr)
|
|
|
NM_001458.5(FLNC):c.6189C>A (p.Ile2063=)
|
|
|
NM_001458.5(FLNC):c.6199C>T (p.Arg2067Cys)
|
rs754160175
|
|
NM_001458.5(FLNC):c.6205G>A (p.Ala2069Thr)
|
rs368562957
|
|
NM_001458.5(FLNC):c.6208+3A>G
|
rs1585168169
|
|
NM_001458.5(FLNC):c.6208+4C>T
|
rs1554401011
|
|
NM_001458.5(FLNC):c.6208G>A (p.Gly2070Ser)
|
|
|
NM_001458.5(FLNC):c.6209G>A (p.Gly2070Asp)
|
|
|
NM_001458.5(FLNC):c.6212A>G (p.Tyr2071Cys)
|
rs2128939068
|
|
NM_001458.5(FLNC):c.6214G>A (p.Gly2072Arg)
|
rs2128939071
|
|
NM_001458.5(FLNC):c.6217G>T (p.Gly2073Cys)
|
rs1366093926
|
|
NM_001458.5(FLNC):c.6218G>A (p.Gly2073Asp)
|
|
|
NM_001458.5(FLNC):c.6218G>C (p.Gly2073Ala)
|
rs922864783
|
|
NM_001458.5(FLNC):c.622G>C (p.Ala208Pro)
|
|
|
NM_001458.5(FLNC):c.6230G>A (p.Ser2077Asn)
|
|
|
NM_001458.5(FLNC):c.6238G>C (p.Gly2080Arg)
|
rs1808912488
|
|
NM_001458.5(FLNC):c.6239G>A (p.Gly2080Asp)
|
rs2128939083
|
|
NM_001458.5(FLNC):c.6244A>C (p.Ser2082Arg)
|
rs2128939089
|
|
NM_001458.5(FLNC):c.6246C>T (p.Ser2082=)
|
rs1554401089
|
|
NM_001458.5(FLNC):c.6248A>C (p.Lys2083Thr)
|
rs2128939092
|
|
NM_001458.5(FLNC):c.6250G>T (p.Val2084Leu)
|
|
|
NM_001458.5(FLNC):c.6251T>A (p.Val2084Glu)
|
rs2128939097
|
|
NM_001458.5(FLNC):c.6256A>G (p.Ile2086Val)
|
|
|
NM_001458.5(FLNC):c.6257T>C (p.Ile2086Thr)
|
rs1808913302
|
|
NM_001458.5(FLNC):c.6260A>T (p.Asn2087Ile)
|
|
|
NM_001458.5(FLNC):c.6263G>A (p.Cys2088Tyr)
|
|
|
NM_001458.5(FLNC):c.6275A>G (p.Glu2092Gly)
|
rs1808914162
|
|
NM_001458.5(FLNC):c.6277G>A (p.Asp2093Asn)
|
|
|
NM_001458.5(FLNC):c.6278A>C (p.Asp2093Ala)
|
rs749292393
|
|
NM_001458.5(FLNC):c.6283A>T (p.Thr2095Ser)
|
rs373022507
|
|
NM_001458.5(FLNC):c.6292G>A (p.Val2098Ile)
|
rs2128939110
|
|
NM_001458.5(FLNC):c.6292G>C (p.Val2098Leu)
|
rs2128939110
|
|
NM_001458.5(FLNC):c.6296C>A (p.Thr2099Asn)
|
rs771090404
|
|
NM_001458.5(FLNC):c.6307A>G (p.Thr2103Ala)
|
|
|
NM_001458.5(FLNC):c.6308C>T (p.Thr2103Ile)
|
|
|
NM_001458.5(FLNC):c.6310G>A (p.Glu2104Lys)
|
rs753069149
|
|
NM_001458.5(FLNC):c.6310G>C (p.Glu2104Gln)
|
rs753069149
|
|
NM_001458.5(FLNC):c.6316G>A (p.Gly2106Ser)
|
|
|
NM_001458.5(FLNC):c.6340T>C (p.Phe2114Leu)
|
|
|
NM_001458.5(FLNC):c.6348C>G (p.Asp2116Glu)
|
|
|
NM_001458.5(FLNC):c.6354C>A (p.His2118Gln)
|
|
|
NM_001458.5(FLNC):c.6358C>T (p.Pro2120Ser)
|
|
|
NM_001458.5(FLNC):c.6359C>G (p.Pro2120Arg)
|
rs1808918849
|
|
NM_001458.5(FLNC):c.635A>T (p.Asn212Ile)
|
rs756723697
|
|
NM_001458.5(FLNC):c.6360T>C (p.Pro2120=)
|
|
|
NM_001458.5(FLNC):c.6361+5G>A
|
rs1808919247
|
|
NM_001458.5(FLNC):c.6362-3C>T
|
|
|
NM_001458.5(FLNC):c.6362-5T>G
|
rs2128939165
|
|
NM_001458.5(FLNC):c.6374C>G (p.Thr2125Ser)
|
rs371455516
|
|
NM_001458.5(FLNC):c.6381_6386dup (p.Val2128_Thr2129dup)
|
rs1808924597
|
|
NM_001458.5(FLNC):c.6397C>T (p.Arg2133Cys)
|
rs1186464414
|
|
NM_001458.5(FLNC):c.6398G>T (p.Arg2133Leu)
|
rs1808925531
|
|
NM_001458.5(FLNC):c.6416C>G (p.Thr2139Ser)
|
|
|
NM_001458.5(FLNC):c.6421C>T (p.Arg2141Trp)
|
rs1808926604
|
|
NM_001458.5(FLNC):c.6422G>A (p.Arg2141Gln)
|
rs769106207
|
|
NM_001458.5(FLNC):c.6442G>A (p.Ala2148Thr)
|
|
|
NM_001458.5(FLNC):c.6445A>G (p.Thr2149Ala)
|
|
|
NM_001458.5(FLNC):c.6450C>A (p.Ile2150=)
|
rs776206819
|
|
NM_001458.5(FLNC):c.6451G>A (p.Gly2151Ser)
|
rs1563003159
|
|
NM_001458.5(FLNC):c.6451G>T (p.Gly2151Cys)
|
rs1563003159
|
|
NM_001458.5(FLNC):c.6460T>A (p.Cys2154Ser)
|
rs1554401153
|
|
NM_001458.5(FLNC):c.6472C>T (p.Leu2158Phe)
|
|
|
NM_001458.5(FLNC):c.6478A>T (p.Ile2160Phe)
|
rs879255640
|
|
NM_001458.5(FLNC):c.6479T>C (p.Ile2160Thr)
|
|
|
NM_001458.5(FLNC):c.6490T>C (p.Trp2164Arg)
|
rs1808936908
|
|
NM_001458.5(FLNC):c.6492G>C (p.Trp2164Cys)
|
|
|
NM_001458.5(FLNC):c.6497A>C (p.Gln2166Pro)
|
|
|
NM_001458.5(FLNC):c.6497A>T (p.Gln2166Leu)
|
|
|
NM_001458.5(FLNC):c.6499A>G (p.Met2167Val)
|
rs2128939248
|
|
NM_001458.5(FLNC):c.6500T>C (p.Met2167Thr)
|
|
|
NM_001458.5(FLNC):c.6517C>A (p.Arg2173Ser)
|
|
|
NM_001458.5(FLNC):c.6517C>G (p.Arg2173Gly)
|
|
|
NM_001458.5(FLNC):c.6518G>A (p.Arg2173His)
|
|
|
NM_001458.5(FLNC):c.6521T>C (p.Leu2174Pro)
|
|
|
NM_001458.5(FLNC):c.6526C>T (p.Arg2176Cys)
|
rs376885778
|
|
NM_001458.5(FLNC):c.6530C>T (p.Thr2177Ile)
|
|
|
NM_001458.5(FLNC):c.6531C>T (p.Thr2177=)
|
|
|
NM_001458.5(FLNC):c.6533T>C (p.Phe2178Ser)
|
rs1554401204
|
|
NM_001458.5(FLNC):c.6539G>A (p.Arg2180His)
|
rs1554401209
|
|
NM_001458.5(FLNC):c.6539G>C (p.Arg2180Pro)
|
rs1554401209
|
|
NM_001458.5(FLNC):c.6541AGC[1] (p.Ser2182del)
|
|
|
NM_001458.5(FLNC):c.6544A>G (p.Ser2182Gly)
|
|
|
NM_001458.5(FLNC):c.6559CGCACGGAG[3] (p.2187RTE[3])
|
rs1808941149
|
|
NM_001458.5(FLNC):c.6560G>A (p.Arg2187His)
|
|
|
NM_001458.5(FLNC):c.6565G>A (p.Glu2189Lys)
|
|
|
NM_001458.5(FLNC):c.6568C>A (p.Arg2190Ser)
|
rs1474675847
|
|
NM_001458.5(FLNC):c.656G>A (p.Arg219Gln)
|
|
|
NM_001458.5(FLNC):c.6574G>A (p.Glu2192Lys)
|
|
|
NM_001458.5(FLNC):c.6589C>T (p.Arg2197Trp)
|
rs1808943188
|
|
NM_001458.5(FLNC):c.658G>C (p.Glu220Gln)
|
rs2128934071
|
|
NM_001458.5(FLNC):c.65C>G (p.Pro22Arg)
|
|
|
NM_001458.5(FLNC):c.65C>T (p.Pro22Leu)
|
|
|
NM_001458.5(FLNC):c.6602C>T (p.Thr2201Ile)
|
rs1585169205
|
|
NM_001458.5(FLNC):c.6607C>G (p.Arg2203Gly)
|
rs758838323
|
|
NM_001458.5(FLNC):c.6616C>G (p.Arg2206Gly)
|
|
|
NM_001458.5(FLNC):c.6616C>T (p.Arg2206Trp)
|
rs867032077
|
|
NM_001458.5(FLNC):c.6617G>A (p.Arg2206Gln)
|
rs781671804
|
|
NM_001458.5(FLNC):c.6617G>C (p.Arg2206Pro)
|
rs781671804
|
|
NM_001458.5(FLNC):c.661G>A (p.Ala221Thr)
|
rs1585152566
|
|
NM_001458.5(FLNC):c.6620T>C (p.Val2207Ala)
|
|
|
NM_001458.5(FLNC):c.6621_6638del (p.Glu2208_Val2213del)
|
rs2128939305
|
|
NM_001458.5(FLNC):c.6632C>T (p.Thr2211Ile)
|
rs1808946811
|
|
NM_001458.5(FLNC):c.6646G>A (p.Asp2216Asn)
|
rs1808947656
|
|
NM_001458.5(FLNC):c.664A>T (p.Met222Leu)
|
rs2128934074
|
|
NM_001458.5(FLNC):c.6650C>T (p.Pro2217Leu)
|
|
|
NM_001458.5(FLNC):c.6656C>A (p.Pro2219His)
|
rs1808948567
|
|
NM_001458.5(FLNC):c.6661G>A (p.Val2221Met)
|
rs1198252355
|
|
NM_001458.5(FLNC):c.6662T>C (p.Val2221Ala)
|
rs2128939339
|
|
NM_001458.5(FLNC):c.6665T>C (p.Phe2222Ser)
|
rs1554401281
|
|
NM_001458.5(FLNC):c.6677T>A (p.Leu2226Gln)
|
|
|
NM_001458.5(FLNC):c.6682C>T (p.Arg2228Trp)
|
rs1196014760
|
|
NM_001458.5(FLNC):c.6685G>A (p.Glu2229Lys)
|
|
|
NM_001458.5(FLNC):c.6688C>T (p.Arg2230Cys)
|
rs374186437
|
|
NM_001458.5(FLNC):c.6707G>C (p.Ser2236Thr)
|
rs1808951957
|
|
NM_001458.5(FLNC):c.6712A>G (p.Thr2238Ala)
|
|
|
NM_001458.5(FLNC):c.6713C>A (p.Thr2238Asn)
|
|
|
NM_001458.5(FLNC):c.6713C>T (p.Thr2238Ile)
|
rs1043618669
|
|
NM_001458.5(FLNC):c.6715C>G (p.Arg2239Gly)
|
|
|
NM_001458.5(FLNC):c.6716G>A (p.Arg2239Gln)
|
rs1350832784
|
|
NM_001458.5(FLNC):c.6716G>T (p.Arg2239Leu)
|
rs1350832784
|
|
NM_001458.5(FLNC):c.6727+5G>A
|
|
|
NM_001458.5(FLNC):c.6728-3C>T
|
|
|
NM_001458.5(FLNC):c.6730G>A (p.Glu2244Lys)
|
rs1340208212
|
|
NM_001458.5(FLNC):c.6737G>A (p.Ser2246Asn)
|
|
|
NM_001458.5(FLNC):c.6737G>C (p.Ser2246Thr)
|
|
|
NM_001458.5(FLNC):c.673G>T (p.Ala225Ser)
|
rs1808127026
|
|
NM_001458.5(FLNC):c.674C>T (p.Ala225Val)
|
|
|
NM_001458.5(FLNC):c.6775G>A (p.Gly2259Ser)
|
|
|
NM_001458.5(FLNC):c.6777C>T (p.Gly2259=)
|
rs1057161787
|
|
NM_001458.5(FLNC):c.678C>A (p.Asp226Glu)
|
|
|
NM_001458.5(FLNC):c.6799G>A (p.Val2267Ile)
|
rs758080422
|
|
NM_001458.5(FLNC):c.679G>A (p.Asp227Asn)
|
|
|
NM_001458.5(FLNC):c.6823A>G (p.Ser2275Gly)
|
|
|
NM_001458.5(FLNC):c.6826G>A (p.Val2276Met)
|
rs1207179287
|
|
NM_001458.5(FLNC):c.6830G>A (p.Arg2277His)
|
rs1186556555
|
|
NM_001458.5(FLNC):c.6843G>A (p.Gln2281=)
|
rs2128939497
|
|
NM_001458.5(FLNC):c.6845A>G (p.Glu2282Gly)
|
rs1808970524
|
|
NM_001458.5(FLNC):c.6848T>C (p.Met2283Thr)
|
rs1174754248
|
|
NM_001458.5(FLNC):c.6856C>T (p.His2286Tyr)
|
|
|
NM_001458.5(FLNC):c.6862G>C (p.Val2288Leu)
|
rs953084143
|
|
NM_001458.5(FLNC):c.6893C>A (p.Pro2298His)
|
|
|
NM_001458.5(FLNC):c.6893C>T (p.Pro2298Leu)
|
rs1382734231
|
|
NM_001458.5(FLNC):c.6905T>C (p.Phe2302Ser)
|
|
|
NM_001458.5(FLNC):c.6909G>C (p.Gln2303His)
|
|
|
NM_001458.5(FLNC):c.6912C>G (p.Phe2304Leu)
|
|
|
NM_001458.5(FLNC):c.691G>T (p.Val231Leu)
|
|
|
NM_001458.5(FLNC):c.6932A>C (p.Glu2311Ala)
|
|
|
NM_001458.5(FLNC):c.6937G>A (p.Gly2313Ser)
|
|
|
NM_001458.5(FLNC):c.6938G>A (p.Gly2313Asp)
|
rs1808975955
|
|
NM_001458.5(FLNC):c.6946A>G (p.Lys2316Glu)
|
|
|
NM_001458.5(FLNC):c.6949G>A (p.Val2317Met)
|
|
|
NM_001458.5(FLNC):c.6987C>A (p.Ala2329=)
|
|
|
NM_001458.5(FLNC):c.699+3_699+7del
|
|
|
NM_001458.5(FLNC):c.6998-9T>A
|
|
|
NM_001458.5(FLNC):c.700-2A>G
|
|
|
NM_001458.5(FLNC):c.7000G>A (p.Glu2334Lys)
|
rs1808984299
|
|
NM_001458.5(FLNC):c.7007G>T (p.Ser2336Ile)
|
|
|
NM_001458.5(FLNC):c.7016C>T (p.Thr2339Ile)
|
rs1554401463
|
|
NM_001458.5(FLNC):c.7018C>T (p.Arg2340Trp)
|
rs2128939610
|
|
NM_001458.5(FLNC):c.7025C>T (p.Ala2342Val)
|
rs2128939613
|
|
NM_001458.5(FLNC):c.7028G>A (p.Gly2343Asp)
|
|
|
NM_001458.5(FLNC):c.7030G>C (p.Ala2344Pro)
|
rs529917784
|
|
NM_001458.5(FLNC):c.7055A>T (p.Glu2352Val)
|
|
|
NM_001458.5(FLNC):c.7066A>G (p.Lys2356Glu)
|
rs2128939626
|
|
NM_001458.5(FLNC):c.7070C>T (p.Ala2357Val)
|
rs765841097
|
|
NM_001458.5(FLNC):c.7070_7072del (p.Ala2357del)
|
rs1554401479
|
|
NM_001458.5(FLNC):c.7075A>G (p.Ile2359Val)
|
rs1554401481
|
|
NM_001458.5(FLNC):c.7078G>A (p.Ala2360Thr)
|
rs1390516682
|
|
NM_001458.5(FLNC):c.7078G>C (p.Ala2360Pro)
|
|
|
NM_001458.5(FLNC):c.707C>T (p.Ala236Val)
|
rs771789906
|
|
NM_001458.5(FLNC):c.7082T>C (p.Phe2361Ser)
|
|
|
NM_001458.5(FLNC):c.7090C>A (p.Arg2364Ser)
|
rs374973240
|
|
NM_001458.5(FLNC):c.7099G>A (p.Gly2367Ser)
|
|
|
NM_001458.5(FLNC):c.7106G>A (p.Cys2369Tyr)
|
rs2128939641
|
|
NM_001458.5(FLNC):c.710C>T (p.Pro237Leu)
|
rs1585152751
|
|
NM_001458.5(FLNC):c.7118A>T (p.Tyr2373Phe)
|
rs1021731214
|
|
NM_001458.5(FLNC):c.7138G>A (p.Asp2380Asn)
|
rs1334300883
|
|
NM_001458.5(FLNC):c.7138G>C (p.Asp2380His)
|
rs1334300883
|
|
NM_001458.5(FLNC):c.7142A>G (p.Tyr2381Cys)
|
|
|
NM_001458.5(FLNC):c.7171C>T (p.His2391Tyr)
|
rs1554401558
|
|
NM_001458.5(FLNC):c.7176C>G (p.Ile2392Met)
|
rs1585170543
|
|
NM_001458.5(FLNC):c.7177C>G (p.Pro2393Ala)
|
rs1554401559
|
|
NM_001458.5(FLNC):c.7178C>G (p.Pro2393Arg)
|
|
|
NM_001458.5(FLNC):c.7178C>T (p.Pro2393Leu)
|
rs2128939746
|
|
NM_001458.5(FLNC):c.7180G>C (p.Asp2394His)
|
rs1554401561
|
|
NM_001458.5(FLNC):c.7186C>T (p.Pro2396Ser)
|
rs1809007749
|
|
NM_001458.5(FLNC):c.7195G>A (p.Val2399Met)
|
rs2128939752
|
|
NM_001458.5(FLNC):c.7198C>T (p.Pro2400Ser)
|
rs1390223951
|
|
NM_001458.5(FLNC):c.719T>C (p.Ile240Thr)
|
rs778626535
|
|
NM_001458.5(FLNC):c.71C>A (p.Thr24Lys)
|
rs1251048006
|
|
NM_001458.5(FLNC):c.7204G>C (p.Ala2402Pro)
|
|
|
NM_001458.5(FLNC):c.7207T>C (p.Ser2403Pro)
|
|
|
NM_001458.5(FLNC):c.720_721inv (p.Val241Met)
|
|
|
NM_001458.5(FLNC):c.7210C>T (p.Leu2404Phe)
|
rs764034824
|
|
NM_001458.5(FLNC):c.7214C>T (p.Ser2405Leu)
|
rs2128939759
|
|
NM_001458.5(FLNC):c.7217A>T (p.Asp2406Val)
|
|
|
NM_001458.5(FLNC):c.7235C>T (p.Thr2412Ile)
|
|
|
NM_001458.5(FLNC):c.7238T>C (p.Val2413Ala)
|
|
|
NM_001458.5(FLNC):c.7252-12T>C
|
|
|
NM_001458.5(FLNC):c.7268T>A (p.Val2423Glu)
|
|
|
NM_001458.5(FLNC):c.7275G>C (p.Gln2425His)
|
rs2128940112
|
|
NM_001458.5(FLNC):c.7276_7281del (p.Pro2426_Ala2427del)
|
|
|
NM_001458.5(FLNC):c.7303G>A (p.Gly2435Ser)
|
|
|
NM_001458.5(FLNC):c.7313G>A (p.Gly2438Asp)
|
rs2128940134
|
|
NM_001458.5(FLNC):c.7313_7330dup (p.Gly2438_Arg2443dup)
|
rs1554401762
|
|
NM_001458.5(FLNC):c.7318A>G (p.Ile2440Val)
|
|
|
NM_001458.5(FLNC):c.7319T>C (p.Ile2440Thr)
|
rs764628080
|
|
NM_001458.5(FLNC):c.7327C>T (p.Arg2443Trp)
|
rs1585171621
|
|
NM_001458.5(FLNC):c.7328G>C (p.Arg2443Pro)
|
rs370293647
|
|
NM_001458.5(FLNC):c.7339C>A (p.Pro2447Thr)
|
rs1554401770
|
|
NM_001458.5(FLNC):c.7342T>G (p.Ser2448Ala)
|
rs2128940146
|
|
NM_001458.5(FLNC):c.7346G>A (p.Gly2449Glu)
|
rs1322256692
|
|
NM_001458.5(FLNC):c.7348G>A (p.Ala2450Thr)
|
|
|
NM_001458.5(FLNC):c.7349C>A (p.Ala2450Asp)
|
rs1809071622
|
|
NM_001458.5(FLNC):c.7379A>G (p.Asp2460Gly)
|
rs2128940164
|
|
NM_001458.5(FLNC):c.7385-3C>A
|
|
|
NM_001458.5(FLNC):c.7386C>G (p.Asp2462Glu)
|
rs2128940208
|
|
NM_001458.5(FLNC):c.7387A>G (p.Lys2463Glu)
|
|
|
NM_001458.5(FLNC):c.7393A>G (p.Thr2465Ala)
|
|
|
NM_001458.5(FLNC):c.7399C>G (p.Arg2467Gly)
|
|
|
NM_001458.5(FLNC):c.7400G>C (p.Arg2467Pro)
|
rs775910704
|
|
NM_001458.5(FLNC):c.7402T>A (p.Phe2468Ile)
|
|
|
NM_001458.5(FLNC):c.7414G>A (p.Glu2472Lys)
|
rs948675422
|
|
NM_001458.5(FLNC):c.7420G>C (p.Gly2474Arg)
|
|
|
NM_001458.5(FLNC):c.7421G>T (p.Gly2474Val)
|
|
|
NM_001458.5(FLNC):c.7427A>G (p.His2476Arg)
|
rs1563005164
|
|
NM_001458.5(FLNC):c.7430C>A (p.Ser2477Tyr)
|
|
|
NM_001458.5(FLNC):c.7430C>T (p.Ser2477Phe)
|
rs2128940229
|
|
NM_001458.5(FLNC):c.7439T>G (p.Val2480Gly)
|
|
|
NM_001458.5(FLNC):c.743A>T (p.His248Leu)
|
|
|
NM_001458.5(FLNC):c.7454C>T (p.Ala2485Val)
|
|
|
NM_001458.5(FLNC):c.7455C>G (p.Ala2485=)
|
rs1554401819
|
|
NM_001458.5(FLNC):c.7462C>T (p.Pro2488Ser)
|
rs1563005191
|
|
NM_001458.5(FLNC):c.7466G>A (p.Gly2489Glu)
|
rs2128940243
|
|
NM_001458.5(FLNC):c.7486G>T (p.Val2496Phe)
|
rs200295337
|
|
NM_001458.5(FLNC):c.7487T>C (p.Val2496Ala)
|
rs1284210024
|
|
NM_001458.5(FLNC):c.7504G>A (p.Ala2502Thr)
|
rs2128940257
|
|
NM_001458.5(FLNC):c.7507G>A (p.Gly2503Arg)
|
rs2128940258
|
|
NM_001458.5(FLNC):c.7510G>A (p.Asp2504Asn)
|
|
|
NM_001458.5(FLNC):c.7513C>A (p.Pro2505Thr)
|
|
|
NM_001458.5(FLNC):c.7516G>A (p.Gly2506Ser)
|
rs1809085479
|
|
NM_001458.5(FLNC):c.7516G>C (p.Gly2506Arg)
|
rs1809085479
|
|
NM_001458.5(FLNC):c.751A>G (p.Met251Val)
|
|
|
NM_001458.5(FLNC):c.7523T>G (p.Val2508Gly)
|
rs2128940265
|
|
NM_001458.5(FLNC):c.7528G>C (p.Ala2510Pro)
|
|
|
NM_001458.5(FLNC):c.7553G>A (p.Gly2518Asp)
|
|
|
NM_001458.5(FLNC):c.7556C>A (p.Thr2519Asn)
|
|
|
NM_001458.5(FLNC):c.7561+3G>A
|
|
|
NM_001458.5(FLNC):c.7561G>C (p.Gly2521Arg)
|
|
|
NM_001458.5(FLNC):c.7562-2_7581dup
|
rs1809097279
|
|
NM_001458.5(FLNC):c.7562-3C>G
|
|
|
NM_001458.5(FLNC):c.7562-3C>T
|
rs1358745378
|
|
NM_001458.5(FLNC):c.7565T>C (p.Val2522Ala)
|
|
|
NM_001458.5(FLNC):c.7580T>G (p.Ile2527Ser)
|
rs749891076
|
|
NM_001458.5(FLNC):c.7596T>A (p.Asn2532Lys)
|
rs377522797
|
|
NM_001458.5(FLNC):c.7597G>A (p.Ala2533Thr)
|
|
|
NM_001458.5(FLNC):c.7597G>C (p.Ala2533Pro)
|
|
|
NM_001458.5(FLNC):c.7600G>A (p.Gly2534Ser)
|
|
|
NM_001458.5(FLNC):c.7600G>T (p.Gly2534Cys)
|
rs372504725
|
|
NM_001458.5(FLNC):c.7601G>T (p.Gly2534Val)
|
rs778822005
|
|
NM_001458.5(FLNC):c.7606G>A (p.Gly2536Arg)
|
rs1809100312
|
|
NM_001458.5(FLNC):c.7606G>C (p.Gly2536Arg)
|
rs1809100312
|
|
NM_001458.5(FLNC):c.7609G>A (p.Ala2537Thr)
|
rs201486752
|
|
NM_001458.5(FLNC):c.7610C>A (p.Ala2537Asp)
|
rs1394723230
|
|
NM_001458.5(FLNC):c.7624A>G (p.Ile2542Val)
|
|
|
NM_001458.5(FLNC):c.7626T>G (p.Ile2542Met)
|
rs1554401890
|
|
NM_001458.5(FLNC):c.7630G>A (p.Gly2544Ser)
|
rs2128940366
|
|
NM_001458.5(FLNC):c.7636T>A (p.Ser2546Thr)
|
rs200673841
|
|
NM_001458.5(FLNC):c.7649T>C (p.Leu2550Pro)
|
|
|
NM_001458.5(FLNC):c.7664G>C (p.Cys2555Ser)
|
rs1585172407
|
|
NM_001458.5(FLNC):c.7666C>G (p.Pro2556Ala)
|
rs765967888
|
|
NM_001458.5(FLNC):c.7667C>T (p.Pro2556Leu)
|
rs1809104361
|
|
NM_001458.5(FLNC):c.7679T>C (p.Val2560Ala)
|
rs931678640
|
|
NM_001458.5(FLNC):c.7690A>C (p.Thr2564Pro)
|
|
|
NM_001458.5(FLNC):c.7690A>T (p.Thr2564Ser)
|
|
|
NM_001458.5(FLNC):c.7691C>T (p.Thr2564Ile)
|
rs1405868407
|
|
NM_001458.5(FLNC):c.7693C>T (p.Pro2565Ser)
|
rs1554401906
|
|
NM_001458.5(FLNC):c.7696A>G (p.Met2566Val)
|
|
|
NM_001458.5(FLNC):c.7697T>C (p.Met2566Thr)
|
|
|
NM_001458.5(FLNC):c.7699G>A (p.Ala2567Thr)
|
|
|
NM_001458.5(FLNC):c.76A>G (p.Lys26Glu)
|
rs1562988843
|
|
NM_001458.5(FLNC):c.7703C>T (p.Pro2568Leu)
|
|
|
NM_001458.5(FLNC):c.7709A>C (p.Asn2570Thr)
|
|
|
NM_001458.5(FLNC):c.7727A>C (p.Lys2576Thr)
|
rs1554401912
|
|
NM_001458.5(FLNC):c.7728G>T (p.Lys2576Asn)
|
|
|
NM_001458.5(FLNC):c.7748T>C (p.Ile2583Thr)
|
|
|
NM_001458.5(FLNC):c.7765A>G (p.Lys2589Glu)
|
rs1809109347
|
|
NM_001458.5(FLNC):c.7768G>T (p.Ala2590Ser)
|
rs1354641654
|
|
NM_001458.5(FLNC):c.7772A>G (p.Lys2591Arg)
|
|
|
NM_001458.5(FLNC):c.7774G>T (p.Val2592Phe)
|
rs1268909811
|
|
NM_001458.5(FLNC):c.7780+1G>T
|
|
|
NM_001458.5(FLNC):c.7780+3G>C
|
|
|
NM_001458.5(FLNC):c.7781-3C>T
|
rs1444704657
|
|
NM_001458.5(FLNC):c.7781-8C>G
|
rs1363938739
|
|
NM_001458.5(FLNC):c.7798G>A (p.Gly2600Ser)
|
|
|
NM_001458.5(FLNC):c.77A>C (p.Lys26Thr)
|
rs2128932111
|
|
NM_001458.5(FLNC):c.7813G>A (p.Glu2605Lys)
|
rs1480530077
|
|
NM_001458.5(FLNC):c.7819T>G (p.Ser2607Ala)
|
rs1809143753
|
|
NM_001458.5(FLNC):c.7832T>G (p.Val2611Gly)
|
rs2128940575
|
|
NM_001458.5(FLNC):c.7836G>C (p.Glu2612Asp)
|
|
|
NM_001458.5(FLNC):c.783G>C (p.Lys261Asn)
|
rs976229219
|
|
NM_001458.5(FLNC):c.7847A>C (p.Lys2616Thr)
|
rs1585172975
|
|
NM_001458.5(FLNC):c.7858A>T (p.Ser2620Cys)
|
|
|
NM_001458.5(FLNC):c.7864G>T (p.Gly2622Cys)
|
rs2128940583
|
|
NM_001458.5(FLNC):c.7893CTC[1] (p.Ser2633del)
|
rs767277303
|
|
NM_001458.5(FLNC):c.7906A>T (p.Ser2636Cys)
|
rs1563005954
|
|
NM_001458.5(FLNC):c.7907G>A (p.Ser2636Asn)
|
|
|
NM_001458.5(FLNC):c.7907G>T (p.Ser2636Ile)
|
rs1424306829
|
|
NM_001458.5(FLNC):c.7915G>A (p.Val2639Met)
|
rs2128940599
|
|
NM_001458.5(FLNC):c.7921C>T (p.Arg2641Trp)
|
rs750629528
|
|
NM_001458.5(FLNC):c.7931G>C (p.Gly2644Ala)
|
rs2128940603
|
|
NM_001458.5(FLNC):c.7934T>C (p.Leu2645Pro)
|
|
|
NM_001458.5(FLNC):c.7949T>A (p.Val2650Glu)
|
|
|
NM_001458.5(FLNC):c.7956G>C (p.Gln2652His)
|
|
|
NM_001458.5(FLNC):c.796G>A (p.Ala266Thr)
|
|
|
NM_001458.5(FLNC):c.7979G>A (p.Cys2660Tyr)
|
|
|
NM_001458.5(FLNC):c.797C>T (p.Ala266Val)
|
|
|
NM_001458.5(FLNC):c.7982G>A (p.Ser2661Asn)
|
|
|
NM_001458.5(FLNC):c.7990+11G>A
|
|
|
NM_001458.5(FLNC):c.7990G>C (p.Gly2664Arg)
|
|
|
NM_001458.5(FLNC):c.7991-3C>T
|
|
|
NM_001458.5(FLNC):c.7999ATG[2] (p.Met2669del)
|
rs1809158348
|
|
NM_001458.5(FLNC):c.8002A>G (p.Met2668Val)
|
|
|
NM_001458.5(FLNC):c.8007G>A (p.Met2669Ile)
|
|
|
NM_001458.5(FLNC):c.8009T>C (p.Val2670Ala)
|
|
|
NM_001458.5(FLNC):c.8014G>A (p.Val2672Met)
|
|
|
NM_001458.5(FLNC):c.8019C>G (p.His2673Gln)
|
rs112180788
|
|
NM_001458.5(FLNC):c.8023C>T (p.Pro2675Ser)
|
rs1563006093
|
|
NM_001458.5(FLNC):c.8026A>G (p.Lys2676Glu)
|
|
|
NM_001458.5(FLNC):c.8033C>T (p.Pro2678Leu)
|
|
|
NM_001458.5(FLNC):c.8049C>G (p.Tyr2683Ter)
|
|
|
NM_001458.5(FLNC):c.8050G>A (p.Val2684Met)
|
|
|
NM_001458.5(FLNC):c.8051T>C (p.Val2684Ala)
|
rs1585173265
|
|
NM_001458.5(FLNC):c.8066A>T (p.Asn2689Ile)
|
|
|
NM_001458.5(FLNC):c.8069G>A (p.Arg2690Gln)
|
rs1585173273
|
|
NM_001458.5(FLNC):c.8078A>T (p.Asn2693Ile)
|
|
|
NM_001458.5(FLNC):c.8087A>G (p.Tyr2696Cys)
|
rs2128940675
|
|
NM_001458.5(FLNC):c.8098G>A (p.Glu2700Lys)
|
rs2128940691
|
|
NM_001458.5(FLNC):c.8103A>T (p.Lys2701Asn)
|
|
|
NM_001458.5(FLNC):c.8109C>G (p.Asp2703Glu)
|
rs1809164297
|
|
NM_001458.5(FLNC):c.8112C>A (p.Tyr2704Ter)
|
|
|
NM_001458.5(FLNC):c.8113A>C (p.Ile2705Leu)
|
rs1809164468
|
|
NM_001458.5(FLNC):c.8117T>C (p.Leu2706Pro)
|
rs2128940703
|
|
NM_001458.5(FLNC):c.8121T>G (p.Ile2707Met)
|
rs28437296
|
|
NM_001458.5(FLNC):c.8121_8122inv (p.Val2708Ile)
|
|
|
NM_001458.5(FLNC):c.8131G>A (p.Gly2711Ser)
|
rs1809165876
|
|
NM_001458.5(FLNC):c.8131G>T (p.Gly2711Cys)
|
rs1809165876
|
|
NM_001458.5(FLNC):c.8140dup (p.Ser2714fs)
|
rs1554402084
|
|
NM_001458.5(FLNC):c.8143G>T (p.Val2715Phe)
|
rs370832402
|
|
NM_001458.5(FLNC):c.8156C>T (p.Pro2719Leu)
|
rs1585173375
|
|
NM_001458.5(FLNC):c.8163A>T (p.Lys2721Asn)
|
rs2128940727
|
|
NM_001458.5(FLNC):c.8168A>T (p.Lys2723Met)
|
|
|
NM_001458.5(FLNC):c.8171T>C (p.Val2724Ala)
|
rs770027151
|
|
NM_001458.5(FLNC):c.8174C>G (p.Pro2725Arg)
|
rs2128940731
|
|
NM_001458.5(FLNC):c.8174C>T (p.Pro2725Leu)
|
rs2128940731
|
|
NM_001458.5(FLNC):c.8178A>G (p.Ter2726Trp)
|
rs1563006225
|
|
NM_001458.5(FLNC):c.824C>A (p.Pro275His)
|
rs1249075788
|
|
NM_001458.5(FLNC):c.835A>G (p.Ile279Val)
|
rs1243812099
|
|
NM_001458.5(FLNC):c.838G>A (p.Ala280Thr)
|
|
|
NM_001458.5(FLNC):c.849T>C (p.Pro283=)
|
|
|
NM_001458.5(FLNC):c.850+12C>T
|
|
|
NM_001458.5(FLNC):c.850+4T>C
|
rs368602593
|
|
NM_001458.5(FLNC):c.850+4T>G
|
rs368602593
|
|
NM_001458.5(FLNC):c.850+5G>A
|
rs2128934199
|
|
NM_001458.5(FLNC):c.853A>G (p.Ile285Val)
|
|
|
NM_001458.5(FLNC):c.856G>C (p.Glu286Gln)
|
rs1274480597
|
|
NM_001458.5(FLNC):c.860C>T (p.Pro287Leu)
|
|
|
NM_001458.5(FLNC):c.862C>A (p.Gln288Lys)
|
rs1808151858
|
|
NM_001458.5(FLNC):c.863A>G (p.Gln288Arg)
|
rs1808151950
|
|
NM_001458.5(FLNC):c.868A>G (p.Asn290Asp)
|
rs1329109141
|
|
NM_001458.5(FLNC):c.86C>T (p.Ala29Val)
|
rs2128932114
|
|
NM_001458.5(FLNC):c.874G>T (p.Val292Leu)
|
rs1275499234
|
|
NM_001458.5(FLNC):c.886G>A (p.Ala296Thr)
|
|
|
NM_001458.5(FLNC):c.887C>T (p.Ala296Val)
|
rs2128934235
|
|
NM_001458.5(FLNC):c.88G>A (p.Glu30Lys)
|
rs2128932116
|
|
NM_001458.5(FLNC):c.896_897delinsTT (p.Thr299Ile)
|
rs1562992080
|
|
NM_001458.5(FLNC):c.899T>G (p.Val300Gly)
|
rs2128934238
|
|
NM_001458.5(FLNC):c.904A>G (p.Thr302Ala)
|
rs1410531577
|
|
NM_001458.5(FLNC):c.907G>A (p.Val303Met)
|
rs1554397562
|
|
NM_001458.5(FLNC):c.913G>A (p.Ala305Thr)
|
rs1312282118
|
|
NM_001458.5(FLNC):c.914C>G (p.Ala305Gly)
|
rs966097091
|
|
NM_001458.5(FLNC):c.914C>T (p.Ala305Val)
|
|
|
NM_001458.5(FLNC):c.92A>T (p.Asp31Val)
|
|
|
NM_001458.5(FLNC):c.934G>A (p.Val312Ile)
|
rs2128934250
|
|
NM_001458.5(FLNC):c.935T>G (p.Val312Gly)
|
rs1808156535
|
|
NM_001458.5(FLNC):c.946G>C (p.Asp316His)
|
|
|
NM_001458.5(FLNC):c.949C>A (p.Pro317Thr)
|
rs1562992145
|
|
NM_001458.5(FLNC):c.953A>C (p.Glu318Ala)
|
rs2128934254
|
|
NM_001458.5(FLNC):c.95C>T (p.Ala32Val)
|
rs2128932120
|
|
NM_001458.5(FLNC):c.964G>A (p.Glu322Lys)
|
|
|
NM_001458.5(FLNC):c.967G>A (p.Glu323Lys)
|
rs1562992158
|
|
NM_001458.5(FLNC):c.970-5A>C
|
rs199755800
|
|
NM_001458.5(FLNC):c.970G>A (p.Ala324Thr)
|
|
|
NM_001458.5(FLNC):c.982C>T (p.Pro328Ser)
|
rs1808168813
|
|
NM_001458.5(FLNC):c.987C>A (p.Asn329Lys)
|
rs1808169217
|
|
NM_001458.5(FLNC):c.992A>G (p.Asp331Gly)
|
rs1808169515
|
|
NM_006790.3(MYOT):c.*188A>C
|
rs1561666869
|
|
NM_006790.3(MYOT):c.*50T>G
|
rs1755640829
|
|
NM_006790.3(MYOT):c.-89del
|
rs886059966
|
|
NM_006790.3(MYOT):c.1006G>C (p.Val336Leu)
|
|
|
NM_006790.3(MYOT):c.1024+5G>A
|
|
|
NM_006790.3(MYOT):c.107_110del (p.Lys36fs)
|
rs398124238
|
|
NM_006790.3(MYOT):c.1084G>A (p.Glu362Lys)
|
|
|
NM_006790.3(MYOT):c.1084G>C (p.Glu362Gln)
|
rs755615381
|
|
NM_006790.3(MYOT):c.1086G>C (p.Glu362Asp)
|
|
|
NM_006790.3(MYOT):c.1113G>C (p.Gln371His)
|
|
|
NM_006790.3(MYOT):c.1118C>T (p.Ser373Leu)
|
|
|
NM_006790.3(MYOT):c.1126C>A (p.Pro376Thr)
|
|
|
NM_006790.3(MYOT):c.1126C>G (p.Pro376Ala)
|
|
|
NM_006790.3(MYOT):c.1129C>A (p.Pro377Thr)
|
|
|
NM_006790.3(MYOT):c.1142T>C (p.Phe381Ser)
|
|
|
NM_006790.3(MYOT):c.1168C>T (p.Gln390Ter)
|
|
|
NM_006790.3(MYOT):c.1175A>G (p.Asn392Ser)
|
|
|
NM_006790.3(MYOT):c.118A>G (p.Ile40Val)
|
|
|
NM_006790.3(MYOT):c.1202A>G (p.Asp401Gly)
|
|
|
NM_006790.3(MYOT):c.1208C>T (p.Thr403Ile)
|
|
|
NM_006790.3(MYOT):c.1231A>C (p.Lys411Gln)
|
|
|
NM_006790.3(MYOT):c.1234G>C (p.Asp412His)
|
|
|
NM_006790.3(MYOT):c.1253C>T (p.Ala418Val)
|
rs2149990334
|
|
NM_006790.3(MYOT):c.1291G>A (p.Val431Met)
|
rs756306645
|
|
NM_006790.3(MYOT):c.1294A>T (p.Thr432Ser)
|
|
|
NM_006790.3(MYOT):c.1307C>A (p.Thr436Lys)
|
|
|
NM_006790.3(MYOT):c.1318G>A (p.Val440Ile)
|
|
|
NM_006790.3(MYOT):c.1322C>T (p.Thr441Met)
|
|
|
NM_006790.3(MYOT):c.1323G>A (p.Thr441=)
|
|
|
NM_006790.3(MYOT):c.1325-1G>A
|
|
|
NM_006790.3(MYOT):c.1327C>G (p.Arg443Gly)
|
|
|
NM_006790.3(MYOT):c.1328G>A (p.Arg443His)
|
|
|
NM_006790.3(MYOT):c.134G>A (p.Arg45His)
|
|
|
NM_006790.3(MYOT):c.134G>T (p.Arg45Leu)
|
rs1358850010
|
|
NM_006790.3(MYOT):c.1363C>T (p.Arg455Trp)
|
|
|
NM_006790.3(MYOT):c.1364G>C (p.Arg455Pro)
|
rs141801816
|
|
NM_006790.3(MYOT):c.1366G>A (p.Val456Ile)
|
|
|
NM_006790.3(MYOT):c.1369C>A (p.Arg457=)
|
|
|
NM_006790.3(MYOT):c.1378T>C (p.Phe460Leu)
|
|
|
NM_006790.3(MYOT):c.137A>G (p.Gln46Arg)
|
|
|
NM_006790.3(MYOT):c.137A>T (p.Gln46Leu)
|
rs2149978825
|
|
NM_006790.3(MYOT):c.1391_1398del (p.Tyr463_Leu464insTer)
|
|
|
NM_006790.3(MYOT):c.1392A>T (p.Leu464Phe)
|
|
|
NM_006790.3(MYOT):c.1396C>T (p.Leu466Phe)
|
|
|
NM_006790.3(MYOT):c.1397T>G (p.Leu466Arg)
|
rs1295267806
|
|
NM_006790.3(MYOT):c.13G>A (p.Glu5Lys)
|
|
|
NM_006790.3(MYOT):c.1401T>A (p.Asn467Lys)
|
rs145427063
|
|
NM_006790.3(MYOT):c.1409G>C (p.Gly470Ala)
|
rs149213350
|
|
NM_006790.3(MYOT):c.1417dup (p.Val473fs)
|
|
|
NM_006790.3(MYOT):c.1418T>C (p.Val473Ala)
|
rs748921791
|
|
NM_006790.3(MYOT):c.1424A>C (p.Gln475Pro)
|
|
|
NM_006790.3(MYOT):c.1439_1441del (p.Glu480del)
|
|
|
NM_006790.3(MYOT):c.143C>G (p.Thr48Arg)
|
|
|
NM_006790.3(MYOT):c.1454G>A (p.Arg485His)
|
|
|
NM_006790.3(MYOT):c.1454G>T (p.Arg485Leu)
|
|
|
NM_006790.3(MYOT):c.145G>C (p.Glu49Gln)
|
rs199760778
|
|
NM_006790.3(MYOT):c.147G>C (p.Glu49Asp)
|
rs1309789504
|
|
NM_006790.3(MYOT):c.151A>G (p.Arg51Gly)
|
rs2149978850
|
|
NM_006790.3(MYOT):c.167C>T (p.Ser56Leu)
|
|
|
NM_006790.3(MYOT):c.16C>G (p.Arg6Gly)
|
|
|
NM_006790.3(MYOT):c.16C>T (p.Arg6Cys)
|
|
|
NM_006790.3(MYOT):c.170del (p.Thr57fs)
|
|
|
NM_006790.3(MYOT):c.176G>A (p.Ser59Asn)
|
|
|
NM_006790.3(MYOT):c.188C>T (p.Thr63Ile)
|
|
|
NM_006790.3(MYOT):c.1A>T (p.Met1Leu)
|
rs1561657261
|
|
NM_006790.3(MYOT):c.225G>C (p.Gln75His)
|
|
|
NM_006790.3(MYOT):c.239A>G (p.Asn80Ser)
|
|
|
NM_006790.3(MYOT):c.252G>C (p.Arg84Ser)
|
rs886044687
|
|
NM_006790.3(MYOT):c.257C>A (p.Thr86Lys)
|
rs1205992276
|
|
NM_006790.3(MYOT):c.280G>A (p.Ala94Thr)
|
|
|
NM_006790.3(MYOT):c.298A>G (p.Ile100Val)
|
rs1423966332
|
|
NM_006790.3(MYOT):c.318T>A (p.Asp106Glu)
|
|
|
NM_006790.3(MYOT):c.32T>C (p.Ile11Thr)
|
|
|
NM_006790.3(MYOT):c.343G>T (p.Ala115Ser)
|
rs114194130
|
|
NM_006790.3(MYOT):c.348G>A (p.Met116Ile)
|
rs1295803826
|
|
NM_006790.3(MYOT):c.356+13T>G
|
rs1461754985
|
|
NM_006790.3(MYOT):c.364C>T (p.Gln122Ter)
|
|
|
NM_006790.3(MYOT):c.387A>G (p.Ile129Met)
|
rs1554102960
|
|
NM_006790.3(MYOT):c.391G>T (p.Ala131Ser)
|
rs1554102961
|
|
NM_006790.3(MYOT):c.392C>T (p.Ala131Val)
|
|
|
NM_006790.3(MYOT):c.409G>A (p.Ala137Thr)
|
|
|
NM_006790.3(MYOT):c.427C>T (p.Pro143Ser)
|
|
|
NM_006790.3(MYOT):c.436C>T (p.Pro146Ser)
|
rs1755197357
|
|
NM_006790.3(MYOT):c.473T>C (p.Ile158Thr)
|
|
|
NM_006790.3(MYOT):c.490A>C (p.Lys164Gln)
|
rs1214787397
|
|
NM_006790.3(MYOT):c.49T>A (p.Cys17Ser)
|
|
|
NM_006790.3(MYOT):c.500G>A (p.Cys167Tyr)
|
|
|
NM_006790.3(MYOT):c.508A>C (p.Thr170Pro)
|
|
|
NM_006790.3(MYOT):c.50G>A (p.Cys17Tyr)
|
rs2149978722
|
|
NM_006790.3(MYOT):c.524G>T (p.Gly175Val)
|
|
|
NM_006790.3(MYOT):c.532C>T (p.Arg178Cys)
|
|
|
NM_006790.3(MYOT):c.533G>T (p.Arg178Leu)
|
|
|
NM_006790.3(MYOT):c.53G>T (p.Gly18Val)
|
|
|
NM_006790.3(MYOT):c.552G>C (p.Lys184Asn)
|
rs2149983161
|
|
NM_006790.3(MYOT):c.556G>T (p.Ala186Ser)
|
|
|
NM_006790.3(MYOT):c.562del (p.Arg188fs)
|
|
|
NM_006790.3(MYOT):c.563G>A (p.Arg188Lys)
|
|
|
NM_006790.3(MYOT):c.563G>T (p.Arg188Ile)
|
rs370165036
|
|
NM_006790.3(MYOT):c.609T>A (p.Asp203Glu)
|
rs1561660796
|
|
NM_006790.3(MYOT):c.614G>C (p.Ser205Thr)
|
|
|
NM_006790.3(MYOT):c.61T>A (p.Leu21Met)
|
|
|
NM_006790.3(MYOT):c.653C>A (p.Ala218Glu)
|
rs533510304
|
|
NM_006790.3(MYOT):c.653C>T (p.Ala218Val)
|
|
|
NM_006790.3(MYOT):c.667C>T (p.Pro223Ser)
|
|
|
NM_006790.3(MYOT):c.677A>T (p.Gln226Leu)
|
|
|
NM_006790.3(MYOT):c.67C>A (p.Pro23Thr)
|
rs751876756
|
|
NM_006790.3(MYOT):c.67C>T (p.Pro23Ser)
|
rs751876756
|
|
NM_006790.3(MYOT):c.680_683del (p.Val227fs)
|
rs775014749
|
|
NM_006790.3(MYOT):c.683+1G>C
|
rs2149985981
|
|
NM_006790.3(MYOT):c.684-3T>C
|
|
|
NM_006790.3(MYOT):c.685A>G (p.Ser229Gly)
|
|
|
NM_006790.3(MYOT):c.691T>C (p.Ser231Pro)
|
|
|
NM_006790.3(MYOT):c.701G>A (p.Arg234Lys)
|
rs1755447825
|
|
NM_006790.3(MYOT):c.709G>A (p.Val237Met)
|
|
|
NM_006790.3(MYOT):c.725C>T (p.Ala242Val)
|
|
|
NM_006790.3(MYOT):c.740T>G (p.Phe247Cys)
|
|
|
NM_006790.3(MYOT):c.775A>G (p.Met259Val)
|
|
|
NM_006790.3(MYOT):c.776T>G (p.Met259Arg)
|
|
|
NM_006790.3(MYOT):c.784G>C (p.Asp262His)
|
rs1271782226
|
|
NM_006790.3(MYOT):c.808G>C (p.Asp270His)
|
rs1561663452
|
|
NM_006790.3(MYOT):c.815A>C (p.Lys272Thr)
|
|
|
NM_006790.3(MYOT):c.83C>T (p.Thr28Ile)
|
rs767662244
|
|
NM_006790.3(MYOT):c.866C>G (p.Thr289Arg)
|
|
|
NM_006790.3(MYOT):c.86C>T (p.Ser29Phe)
|
rs1580847200
|
|
NM_006790.3(MYOT):c.884T>G (p.Leu295Trp)
|
|
|
NM_006790.3(MYOT):c.935T>C (p.Val312Ala)
|
|
|
NM_006790.3(MYOT):c.937G>A (p.Val313Ile)
|
rs760955035
|
|
NM_006790.3(MYOT):c.951T>G (p.Asp317Glu)
|
rs753927065
|
|
NM_006790.3(MYOT):c.956G>C (p.Gly319Ala)
|
rs1330407694
|
|
NM_006790.3(MYOT):c.959C>T (p.Ala320Val)
|
rs2149988068
|
|
NM_006790.3(MYOT):c.982A>G (p.Arg328Gly)
|
rs2149988081
|
|
NM_006790.3(MYOT):c.983G>A (p.Arg328Lys)
|
|
|
NM_006790.3(MYOT):c.98G>T (p.Ser33Ile)
|
rs1554102559
|
|
NM_007078.2(LDB3):c.-23-?_93+?dup
|
|
|
NM_007078.3(LDB3):c.101C>G (p.Pro34Arg)
|
|
|
NM_007078.3(LDB3):c.1023C>T (p.Ala341=)
|
|
|
NM_007078.3(LDB3):c.1027A>G (p.Thr343Ala)
|
|
|
NM_007078.3(LDB3):c.1028C>T (p.Thr343Ile)
|
|
|
NM_007078.3(LDB3):c.1045_1050dup (p.Ser349_Thr350dup)
|
rs1276121533
|
|
NM_007078.3(LDB3):c.1069C>T (p.Pro357Ser)
|
|
|
NM_007078.3(LDB3):c.1074C>A (p.Ala358=)
|
rs45459491
|
|
NM_007078.3(LDB3):c.1086-12G>C
|
|
|
NM_007078.3(LDB3):c.1088C>G (p.Pro363Arg)
|
|
|
NM_007078.3(LDB3):c.108C>G (p.Ser36Arg)
|
rs2132360019
|
|
NM_007078.3(LDB3):c.10A>C (p.Ser4Arg)
|
rs727505295
|
|
NM_007078.3(LDB3):c.110A>G (p.Lys37Arg)
|
|
|
NM_007078.3(LDB3):c.110A>T (p.Lys37Met)
|
rs2132360031
|
|
NM_007078.3(LDB3):c.1115T>C (p.Val372Ala)
|
|
|
NM_007078.3(LDB3):c.1121C>T (p.Ala374Val)
|
rs1554860812
|
|
NM_007078.3(LDB3):c.1134T>C (p.Pro378=)
|
|
|
NM_007078.3(LDB3):c.1150T>A (p.Tyr384Asn)
|
rs1554860857
|
|
NM_007078.3(LDB3):c.1156G>A (p.Glu386Lys)
|
|
|
NM_007078.3(LDB3):c.115G>C (p.Ala39Pro)
|
rs1844983837
|
|
NM_007078.3(LDB3):c.1161C>T (p.Gly387=)
|
|
|
NM_007078.3(LDB3):c.1184C>T (p.Pro395Leu)
|
rs2132466193
|
|
NM_007078.3(LDB3):c.1186C>A (p.Arg396=)
|
|
|
NM_007078.3(LDB3):c.1186C>G (p.Arg396Gly)
|
|
|
NM_007078.3(LDB3):c.1187G>A (p.Arg396Gln)
|
|
|
NM_007078.3(LDB3):c.1206C>T (p.Ser402=)
|
|
|
NM_007078.3(LDB3):c.1211G>T (p.Arg404Leu)
|
|
|
NM_007078.3(LDB3):c.1219_1222del (p.Val407fs)
|
|
|
NM_007078.3(LDB3):c.1231+12A>G
|
|
|
NM_007078.3(LDB3):c.1231+14dup
|
|
|
NM_007078.3(LDB3):c.1231+4A>C
|
rs2132466323
|
|
NM_007078.3(LDB3):c.1231+6_1231+7delinsGC
|
rs2132466334
|
|
NM_007078.3(LDB3):c.1231+8del
|
|
|
NM_007078.3(LDB3):c.1231G>C (p.Val411Leu)
|
rs1846585105
|
|
NM_007078.3(LDB3):c.1232-11G>T
|
|
|
NM_007078.3(LDB3):c.1232-19T>G
|
|
|
NM_007078.3(LDB3):c.1232-6_1232-5delinsGG
|
|
|
NM_007078.3(LDB3):c.1234C>G (p.Pro412Ala)
|
|
|
NM_007078.3(LDB3):c.1234C>T (p.Pro412Ser)
|
|
|
NM_007078.3(LDB3):c.1243A>T (p.Thr415Ser)
|
rs2132481387
|
|
NM_007078.3(LDB3):c.1248C>T (p.Tyr416=)
|
|
|
NM_007078.3(LDB3):c.1253C>T (p.Pro418Leu)
|
rs141870580
|
|
NM_007078.3(LDB3):c.1287C>T (p.Tyr429=)
|
|
|
NM_007078.3(LDB3):c.1289C>G (p.Thr430Ser)
|
rs746183666
|
|
NM_007078.3(LDB3):c.1289C>T (p.Thr430Ile)
|
rs746183666
|
|
NM_007078.3(LDB3):c.1294del (p.Ser432fs)
|
rs756413215
|
|
NM_007078.3(LDB3):c.1296CCCTGCCCCTGCCTACACCCCCTC[1] (p.434APAYTPSP[1])
|
rs397517209
|
|
NM_007078.3(LDB3):c.1296CCCTGCCCCTGCCTACACCCCCTC[3] (p.434APAYTPSP[3])
|
rs397517209
|
|
NM_007078.3(LDB3):c.1297C>A (p.Pro433Thr)
|
|
|
NM_007078.3(LDB3):c.1310A>G (p.Tyr437Cys)
|
|
|
NM_007078.3(LDB3):c.1313C>G (p.Thr438Ser)
|
rs767914340
|
|
NM_007078.3(LDB3):c.1325C>T (p.Ala442Val)
|
rs786205349
|
|
NM_007078.3(LDB3):c.1327C>T (p.Pro443Ser)
|
|
|
NM_007078.3(LDB3):c.1328C>T (p.Pro443Leu)
|
rs1554863327
|
|
NM_007078.3(LDB3):c.1336A>G (p.Thr446Ala)
|
|
|
NM_007078.3(LDB3):c.1337C>A (p.Thr446Asn)
|
|
|
NM_007078.3(LDB3):c.1337C>T (p.Thr446Ile)
|
rs200476126
|
|
NM_007078.3(LDB3):c.1341C>G (p.Pro447=)
|
|
|
NM_007078.3(LDB3):c.1351C>G (p.Pro451Ala)
|
rs1589674758
|
|
NM_007078.3(LDB3):c.1361C>T (p.Thr454Ile)
|
rs780337957
|
|
NM_007078.3(LDB3):c.1369C>T (p.Pro457Ser)
|
|
|
NM_007078.3(LDB3):c.1370C>T (p.Pro457Leu)
|
|
|
NM_007078.3(LDB3):c.1379C>T (p.Ala460Val)
|
|
|
NM_007078.3(LDB3):c.1387C>T (p.Pro463Ser)
|
|
|
NM_007078.3(LDB3):c.1388C>A (p.Pro463His)
|
|
|
NM_007078.3(LDB3):c.1396G>A (p.Ala466Thr)
|
|
|
NM_007078.3(LDB3):c.1407_1408dup (p.Asn470fs)
|
|
|
NM_007078.3(LDB3):c.1414G>C (p.Ala472Pro)
|
rs546736974
|
|
NM_007078.3(LDB3):c.1426G>T (p.Ala476Ser)
|
rs1222316982
|
|
NM_007078.3(LDB3):c.1439dup (p.Ala482fs)
|
rs2132482311
|
|
NM_007078.3(LDB3):c.1445C>G (p.Ala482Gly)
|
|
|
NM_007078.3(LDB3):c.1445C>T (p.Ala482Val)
|
rs774313535
|
|
NM_007078.3(LDB3):c.1446_1454del (p.Glu483_Ala485del)
|
rs1398383245
|
|
NM_007078.3(LDB3):c.1457dup (p.Ser486fs)
|
rs1846883652
|
|
NM_007078.3(LDB3):c.1459C>T (p.Arg487Cys)
|
rs950395877
|
|
NM_007078.3(LDB3):c.145G>A (p.Val49Met)
|
rs200645175
|
|
NM_007078.3(LDB3):c.145G>C (p.Val49Leu)
|
rs200645175
|
|
NM_007078.3(LDB3):c.1468T>C (p.Trp490Arg)
|
rs1589675054
|
|
NM_007078.3(LDB3):c.1471G>A (p.Val491Met)
|
rs397517215
|
|
NM_007078.3(LDB3):c.1471G>T (p.Val491Leu)
|
rs397517215
|
|
NM_007078.3(LDB3):c.1483A>G (p.Ser495Gly)
|
rs2132482506
|
|
NM_007078.3(LDB3):c.1497G>C (p.Lys499Asn)
|
rs1278770988
|
|
NM_007078.3(LDB3):c.149T>C (p.Val50Ala)
|
rs1844986603
|
|
NM_007078.3(LDB3):c.1505C>T (p.Pro502Leu)
|
rs528611881
|
|
NM_007078.3(LDB3):c.1508G>A (p.Gly503Asp)
|
rs777459539
|
|
NM_007078.3(LDB3):c.152C>T (p.Ala51Val)
|
|
|
NM_007078.3(LDB3):c.1535A>G (p.Gln512Arg)
|
rs138951890
|
|
NM_007078.3(LDB3):c.1538C>A (p.Thr513Asn)
|
rs748433510
|
|
NM_007078.3(LDB3):c.1538C>T (p.Thr513Ile)
|
rs748433510
|
|
NM_007078.3(LDB3):c.1543C>T (p.Pro515Ser)
|
|
|
NM_007078.3(LDB3):c.1547G>T (p.Arg516Leu)
|
|
|
NM_007078.3(LDB3):c.1565C>A (p.Thr522Asn)
|
rs1846888303
|
|
NM_007078.3(LDB3):c.1565C>T (p.Thr522Ile)
|
rs1846888303
|
|
NM_007078.3(LDB3):c.1567C>G (p.Pro523Ala)
|
rs794729062
|
|
NM_007078.3(LDB3):c.1570G>A (p.Ala524Thr)
|
|
|
NM_007078.3(LDB3):c.1574G>C (p.Gly525Ala)
|
|
|
NM_007078.3(LDB3):c.157G>A (p.Asp53Asn)
|
rs2132360328
|
|
NM_007078.3(LDB3):c.1591C>G (p.Leu531Val)
|
rs2132482794
|
|
NM_007078.3(LDB3):c.1599G>C (p.Arg533Ser)
|
rs1846890284
|
|
NM_007078.3(LDB3):c.1601_1602dup (p.Thr535fs)
|
rs1846890164
|
|
NM_007078.3(LDB3):c.1602_1603insTGCCAC (p.Gly534_Thr535insCysHis)
|
|
|
NM_007078.3(LDB3):c.1603_1605delinsTGCCACTCA (p.Thr535delinsCysHisSer)
|
rs1589675306
|
|
NM_007078.3(LDB3):c.1604C>T (p.Thr535Ile)
|
|
|
NM_007078.3(LDB3):c.1607T>C (p.Val536Ala)
|
rs727503128
|
|
NM_007078.3(LDB3):c.1609del (p.Gln537fs)
|
rs727503129
|
|
NM_007078.3(LDB3):c.160G>C (p.Gly54Arg)
|
rs201786090
|
|
NM_007078.3(LDB3):c.1618G>T (p.Glu540Ter)
|
rs1004518756
|
|
NM_007078.3(LDB3):c.1622G>A (p.Arg541Gln)
|
|
|
NM_007078.3(LDB3):c.1631C>A (p.Ala544Asp)
|
rs1265432173
|
|
NM_007078.3(LDB3):c.1647A>G (p.Pro549=)
|
|
|
NM_007078.3(LDB3):c.1649T>C (p.Leu550Pro)
|
rs1589675409
|
|
NM_007078.3(LDB3):c.1653C>A (p.Cys551Ter)
|
rs45581435
|
|
NM_007078.3(LDB3):c.1654G>T (p.Gly552Cys)
|
rs771007816
|
|
NM_007078.3(LDB3):c.1671C>T (p.Val557=)
|
|
|
NM_007078.3(LDB3):c.1676G>T (p.Arg559Leu)
|
|
|
NM_007078.3(LDB3):c.1677-18C>T
|
|
|
NM_007078.3(LDB3):c.1677G>A (p.Arg559=)
|
rs1846936388
|
|
NM_007078.3(LDB3):c.1679G>T (p.Gly560Val)
|
|
|
NM_007078.3(LDB3):c.167A>G (p.Asn56Ser)
|
rs751482077
|
|
NM_007078.3(LDB3):c.1689G>T (p.Leu563=)
|
|
|
NM_007078.3(LDB3):c.1700G>A (p.Gly567Asp)
|
rs2132485348
|
|
NM_007078.3(LDB3):c.1702C>A (p.Arg568Ser)
|
|
|
NM_007078.3(LDB3):c.1702C>T (p.Arg568Cys)
|
|
|
NM_007078.3(LDB3):c.1711C>A (p.His571Asn)
|
rs777095535
|
|
NM_007078.3(LDB3):c.1714C>T (p.Pro572Ser)
|
|
|
NM_007078.3(LDB3):c.1725C>T (p.Phe575=)
|
|
|
NM_007078.3(LDB3):c.1741A>C (p.Lys581Gln)
|
rs751506530
|
|
NM_007078.3(LDB3):c.1745C>T (p.Thr582Ile)
|
|
|
NM_007078.3(LDB3):c.1752G>C (p.Leu584=)
|
rs1589676711
|
|
NM_007078.3(LDB3):c.175A>G (p.Thr59Ala)
|
|
|
NM_007078.3(LDB3):c.1760T>C (p.Val587Ala)
|
|
|
NM_007078.3(LDB3):c.1763G>A (p.Cys588Tyr)
|
rs1449207508
|
|
NM_007078.3(LDB3):c.1772A>G (p.Glu591Gly)
|
|
|
NM_007078.3(LDB3):c.1777C>A (p.Gln593Lys)
|
rs2132485566
|
|
NM_007078.3(LDB3):c.1789T>C (p.Tyr597His)
|
rs727503131
|
|
NM_007078.3(LDB3):c.1799G>C (p.Arg600Pro)
|
rs747523570
|
|
NM_007078.3(LDB3):c.1806T>A (p.Tyr602Ter)
|
rs2132485699
|
|
NM_007078.3(LDB3):c.1812A>G (p.Gln604=)
|
rs1846942056
|
|
NM_007078.3(LDB3):c.1824_1825delinsAA (p.Leu609Met)
|
rs2132485761
|
|
NM_007078.3(LDB3):c.1827G>C (p.Leu609=)
|
|
|
NM_007078.3(LDB3):c.182C>T (p.Thr61Ile)
|
|
|
NM_007078.3(LDB3):c.1835A>G (p.Lys612Arg)
|
|
|
NM_007078.3(LDB3):c.1835A>T (p.Lys612Met)
|
|
|
NM_007078.3(LDB3):c.1845C>T (p.Thr615=)
|
|
|
NM_007078.3(LDB3):c.184C>T (p.His62Tyr)
|
rs779234633
|
|
NM_007078.3(LDB3):c.1857+16C>T
|
|
|
NM_007078.3(LDB3):c.1857+3A>G
|
rs367942602
|
|
NM_007078.3(LDB3):c.1857+6T>C
|
rs2132485825
|
|
NM_007078.3(LDB3):c.1857G>T (p.Gly619=)
|
|
|
NM_007078.3(LDB3):c.1858-15G>A
|
|
|
NM_007078.3(LDB3):c.1858-3C>A
|
rs748601174
|
|
NM_007078.3(LDB3):c.1858-6C>T
|
rs2132487012
|
|
NM_007078.3(LDB3):c.1864A>T (p.Met622Leu)
|
|
|
NM_007078.3(LDB3):c.1867C>A (p.His623Asn)
|
|
|
NM_007078.3(LDB3):c.1888C>A (p.His630Asn)
|
rs2132487146
|
|
NM_007078.3(LDB3):c.1895C>G (p.Thr632Ser)
|
rs1195333947
|
|
NM_007078.3(LDB3):c.18_23dup (p.Thr8_Gly9insLeuThr)
|
|
|
NM_007078.3(LDB3):c.1902C>A (p.Phe634Leu)
|
rs773904344
|
|
NM_007078.3(LDB3):c.1903G>C (p.Val635Leu)
|
rs45618633
|
|
NM_007078.3(LDB3):c.1904T>A (p.Val635Asp)
|
rs567014755
|
|
NM_007078.3(LDB3):c.1907G>A (p.Cys636Tyr)
|
rs397517218
|
|
NM_007078.3(LDB3):c.1935C>G (p.Asn645Lys)
|
rs1846970016
|
|
NM_007078.3(LDB3):c.1939C>G (p.Leu647Val)
|
|
|
NM_007078.3(LDB3):c.1954G>C (p.Asp652His)
|
|
|
NM_007078.3(LDB3):c.1957G>A (p.Gly653Arg)
|
|
|
NM_007078.3(LDB3):c.1957G>C (p.Gly653Arg)
|
rs149945820
|
|
NM_007078.3(LDB3):c.1968C>A (p.Tyr656Ter)
|
rs2132487443
|
|
NM_007078.3(LDB3):c.196C>T (p.Gln66Ter)
|
rs1554849100
|
|
NM_007078.3(LDB3):c.1978+13C>T
|
|
|
NM_007078.3(LDB3):c.1978+17G>A
|
|
|
NM_007078.3(LDB3):c.1978+2_1978+5del
|
rs1554864768
|
|
NM_007078.3(LDB3):c.1978+6A>G
|
rs1846973492
|
|
NM_007078.3(LDB3):c.1979-20C>T
|
|
|
NM_007078.3(LDB3):c.1979-7A>C
|
|
|
NM_007078.3(LDB3):c.1985T>A (p.Ile662Asn)
|
rs2132503371
|
|
NM_007078.3(LDB3):c.1990C>T (p.Leu664=)
|
|
|
NM_007078.3(LDB3):c.2008C>T (p.His670Tyr)
|
|
|
NM_007078.3(LDB3):c.2027del (p.Val676fs)
|
rs2132503498
|
|
NM_007078.3(LDB3):c.2031G>T (p.Glu677Asp)
|
|
|
NM_007078.3(LDB3):c.2055C>T (p.Ala685=)
|
|
|
NM_007078.3(LDB3):c.2062C>T (p.His688Tyr)
|
|
|
NM_007078.3(LDB3):c.2066C>G (p.Thr689Ser)
|
rs1847250272
|
|
NM_007078.3(LDB3):c.2085C>T (p.Phe695=)
|
|
|
NM_007078.3(LDB3):c.2092G>T (p.Ala698Ser)
|
rs45577134
|
|
NM_007078.3(LDB3):c.2094+3A>G
|
rs1847251626
|
|
NM_007078.3(LDB3):c.2094+4T>A
|
|
|
NM_007078.3(LDB3):c.2104G>T (p.Val702Leu)
|
rs773235586
|
|
NM_007078.3(LDB3):c.2108A>C (p.Asn703Thr)
|
|
|
NM_007078.3(LDB3):c.2108A>G (p.Asn703Ser)
|
|
|
NM_007078.3(LDB3):c.2109T>A (p.Asn703Lys)
|
|
|
NM_007078.3(LDB3):c.2110C>A (p.Leu704Met)
|
|
|
NM_007078.3(LDB3):c.2119C>G (p.Gln707Glu)
|
|
|
NM_007078.3(LDB3):c.211T>G (p.Ser71Ala)
|
|
|
NM_007078.3(LDB3):c.2128T>C (p.Tyr710His)
|
rs1847526825
|
|
NM_007078.3(LDB3):c.212C>G (p.Ser71Cys)
|
rs772249948
|
|
NM_007078.3(LDB3):c.2134AAG[1] (p.Lys713del)
|
|
|
NM_007078.3(LDB3):c.2136del (p.Lys713fs)
|
rs1847527465
|
|
NM_007078.3(LDB3):c.2137A>G (p.Lys713Glu)
|
|
|
NM_007078.3(LDB3):c.2147C>A (p.Pro716His)
|
|
|
NM_007078.3(LDB3):c.2147C>T (p.Pro716Leu)
|
|
|
NM_007078.3(LDB3):c.2150T>G (p.Leu717Arg)
|
rs753237785
|
|
NM_007078.3(LDB3):c.2155A>C (p.Lys719Gln)
|
rs397517220
|
|
NM_007078.3(LDB3):c.2164G>T (p.Ala722Ser)
|
|
|
NM_007078.3(LDB3):c.2167C>T (p.His723Tyr)
|
|
|
NM_007078.3(LDB3):c.2173A>C (p.Ile725Leu)
|
rs1554870749
|
|
NM_007078.3(LDB3):c.2173A>G (p.Ile725Val)
|
rs1554870749
|
|
NM_007078.3(LDB3):c.2174T>C (p.Ile725Thr)
|
rs748399477
|
|
NM_007078.3(LDB3):c.2175C>T (p.Ile725=)
|
|
|
NM_007078.3(LDB3):c.2177A>G (p.Asn726Ser)
|
rs1335747231
|
|
NM_007078.3(LDB3):c.2180T>C (p.Leu727Ser)
|
|
|
NM_007078.3(LDB3):c.218G>A (p.Ser73Asn)
|
|
|
NM_007078.3(LDB3):c.23C>A (p.Thr8Asn)
|
rs1060501317
|
|
NM_007078.3(LDB3):c.242del (p.Gln81fs)
|
rs1554849133
|
|
NM_007078.3(LDB3):c.246-11G>A
|
|
|
NM_007078.3(LDB3):c.246-1G>A
|
|
|
NM_007078.3(LDB3):c.246-3C>T
|
|
|
NM_007078.3(LDB3):c.256C>T (p.Pro86Ser)
|
|
|
NM_007078.3(LDB3):c.269C>T (p.Ser90Phe)
|
|
|
NM_007078.3(LDB3):c.287T>C (p.Val96Ala)
|
rs794729056
|
|
NM_007078.3(LDB3):c.289dup (p.Gln97fs)
|
rs2132363722
|
|
NM_007078.3(LDB3):c.290A>G (p.Gln97Arg)
|
rs762580653
|
|
NM_007078.3(LDB3):c.296C>T (p.Pro99Leu)
|
|
|
NM_007078.3(LDB3):c.299T>C (p.Leu100Pro)
|
|
|
NM_007078.3(LDB3):c.304G>A (p.Val102Met)
|
rs1845031056
|
|
NM_007078.3(LDB3):c.319A>T (p.Lys107Ter)
|
rs2132363967
|
|
NM_007078.3(LDB3):c.31G>T (p.Gly11Trp)
|
|
|
NM_007078.3(LDB3):c.327del (p.Ala110fs)
|
|
|
NM_007078.3(LDB3):c.329C>T (p.Ala110Val)
|
rs1204980784
|
|
NM_007078.3(LDB3):c.359C>A (p.Pro120His)
|
rs1365965245
|
|
NM_007078.3(LDB3):c.377C>T (p.Ala126Val)
|
|
|
NM_007078.3(LDB3):c.389_390insCAGGCACCC (p.Pro130_Gly131insArgHisPro)
|
|
|
NM_007078.3(LDB3):c.390AGGCACCCC[1] (p.131GTP[1])
|
rs750334087
|
|
NM_007078.3(LDB3):c.398_454dup (p.Ala151_Phe152insSerGlyThrProGluLeuArgProThrPheSerProAlaPheSerArgProSerAla)
|
|
|
NM_007078.3(LDB3):c.424T>C (p.Phe142Leu)
|
rs2132371597
|
|
NM_007078.3(LDB3):c.456CTC[1] (p.Ser154del)
|
|
|
NM_007078.3(LDB3):c.466G>C (p.Ala156Pro)
|
rs200596619
|
|
NM_007078.3(LDB3):c.469G>A (p.Glu157Lys)
|
rs770678454
|
|
NM_007078.3(LDB3):c.46C>T (p.Arg16Cys)
|
|
|
NM_007078.3(LDB3):c.472G>T (p.Ala158Ser)
|
|
|
NM_007078.3(LDB3):c.473C>T (p.Ala158Val)
|
|
|
NM_007078.3(LDB3):c.494G>T (p.Arg165Leu)
|
rs61857115
|
|
NM_007078.3(LDB3):c.4T>A (p.Ser2Thr)
|
rs1564626023
|
|
NM_007078.3(LDB3):c.50T>C (p.Leu17Pro)
|
rs2132320405
|
|
NM_007078.3(LDB3):c.525G>C (p.Glu175Asp)
|
rs757099637
|
|
NM_007078.3(LDB3):c.526G>A (p.Gly176Arg)
|
rs149167391
|
|
NM_007078.3(LDB3):c.529del (p.Ala177fs)
|
rs730880345
|
|
NM_007078.3(LDB3):c.529dup (p.Ala177fs)
|
rs730880345
|
|
NM_007078.3(LDB3):c.532C>T (p.Arg178Trp)
|
rs730880128
|
|
NM_007078.3(LDB3):c.544G>A (p.Gly182Ser)
|
|
|
NM_007078.3(LDB3):c.545G>A (p.Gly182Asp)
|
rs2132372366
|
|
NM_007078.3(LDB3):c.548del (p.Pro183fs)
|
rs1285270306
|
|
NM_007078.3(LDB3):c.55G>A (p.Gly19Arg)
|
rs777413488
|
|
NM_007078.3(LDB3):c.55G>C (p.Gly19Arg)
|
rs777413488
|
|
NM_007078.3(LDB3):c.55G>T (p.Gly19Trp)
|
rs777413488
|
|
NM_007078.3(LDB3):c.567_568delinsTT (p.Ser190Cys)
|
rs2132372538
|
|
NM_007078.3(LDB3):c.56G>A (p.Gly19Glu)
|
rs753314972
|
|
NM_007078.3(LDB3):c.575C>G (p.Pro192Arg)
|
rs758182278
|
|
NM_007078.3(LDB3):c.58G>A (p.Gly20Ser)
|
|
|
NM_007078.3(LDB3):c.59G>A (p.Gly20Asp)
|
rs1844291597
|
|
NM_007078.3(LDB3):c.614A>C (p.Glu205Ala)
|
|
|
NM_007078.3(LDB3):c.626A>T (p.Glu209Val)
|
rs1845153117
|
|
NM_007078.3(LDB3):c.662A>G (p.Lys221Arg)
|
|
|
NM_007078.3(LDB3):c.680T>A (p.Leu227His)
|
rs888143005
|
|
NM_007078.3(LDB3):c.685G>A (p.Gly229Arg)
|
rs1383872346
|
|
NM_007078.3(LDB3):c.686G>C (p.Gly229Ala)
|
rs1131691665
|
|
NM_007078.3(LDB3):c.690-2A>G
|
rs1060501315
|
|
NM_007078.3(LDB3):c.690-4618C>A
|
rs764620834
|
|
NM_007078.3(LDB3):c.690-4618C>T
|
|
|
NM_007078.3(LDB3):c.690-4619G>A
|
|
|
NM_007078.3(LDB3):c.690-4619_690-4618delinsTA
|
rs1060501314
|
|
NM_007078.3(LDB3):c.690-4621A>T
|
rs370053163
|
|
NM_007078.3(LDB3):c.690-4830C>A
|
rs2132396540
|
|
NM_007078.3(LDB3):c.701T>C (p.Ile234Thr)
|
|
|
NM_007078.3(LDB3):c.706G>C (p.Asp236His)
|
|
|
NM_007078.3(LDB3):c.721A>G (p.Ser241Gly)
|
|
|
NM_007078.3(LDB3):c.722G>A (p.Ser241Asn)
|
|
|
NM_007078.3(LDB3):c.730C>G (p.Pro244Ala)
|
rs1205511323
|
|
NM_007078.3(LDB3):c.732C>G (p.Pro244=)
|
|
|
NM_007078.3(LDB3):c.74T>C (p.Met25Thr)
|
|
|
NM_007078.3(LDB3):c.763A>G (p.Lys255Glu)
|
|
|
NM_007078.3(LDB3):c.76C>T (p.Pro26Ser)
|
rs778865072
|
|
NM_007078.3(LDB3):c.785_818dup (p.Ser274fs)
|
|
|
NM_007078.3(LDB3):c.797G>A (p.Arg266His)
|
|
|
NM_007078.3(LDB3):c.805A>C (p.Asn269His)
|
rs1367297073
|
|
NM_007078.3(LDB3):c.806A>G (p.Asn269Ser)
|
rs1307504553
|
|
NM_007078.3(LDB3):c.80T>C (p.Leu27Pro)
|
rs1057517864
|
|
NM_007078.3(LDB3):c.815C>T (p.Ser272Phe)
|
|
|
NM_007078.3(LDB3):c.833T>G (p.Leu278Arg)
|
rs1845789692
|
|
NM_007078.3(LDB3):c.836C>G (p.Ala279Gly)
|
rs2132415804
|
|
NM_007078.3(LDB3):c.859+20G>A
|
|
|
NM_007078.3(LDB3):c.860-22_860-12del
|
rs727504602
|
|
NM_007078.3(LDB3):c.860-3C>T
|
|
|
NM_007078.3(LDB3):c.860-6C>G
|
|
|
NM_007078.3(LDB3):c.868C>A (p.Pro290Thr)
|
|
|
NM_007078.3(LDB3):c.878A>C (p.Glu293Ala)
|
rs1288594486
|
|
NM_007078.3(LDB3):c.886C>T (p.Arg296Ter)
|
rs1060501316
|
|
NM_007078.3(LDB3):c.891G>T (p.Arg297Ser)
|
rs374336814
|
|
NM_007078.3(LDB3):c.892T>C (p.Ser298Pro)
|
rs953198544
|
|
NM_007078.3(LDB3):c.896+6695T>C
|
rs1846150336
|
|
NM_007078.3(LDB3):c.896+6814G>A
|
rs1846157787
|
|
NM_007078.3(LDB3):c.896+6872G>A
|
rs1037329839
|
|
NM_007078.3(LDB3):c.896+6957G>A
|
rs886047354
|
|
NM_007078.3(LDB3):c.897-6525T>C
|
rs886047356
|
|
NM_007078.3(LDB3):c.897-6702C>G
|
rs1188752285
|
|
NM_007078.3(LDB3):c.897-6707G>A
|
rs537660741
|
|
NM_007078.3(LDB3):c.897-6759C>G
|
rs11594242
|
|
NM_007078.3(LDB3):c.897-7T>A
|
rs1846448550
|
|
NM_007078.3(LDB3):c.897C>T (p.Ser299=)
|
|
|
NM_007078.3(LDB3):c.89C>A (p.Ser30Tyr)
|
rs1844293917
|
|
NM_007078.3(LDB3):c.89C>G (p.Ser30Cys)
|
|
|
NM_007078.3(LDB3):c.913G>C (p.Ala305Pro)
|
rs573547650
|
|
NM_007078.3(LDB3):c.914C>T (p.Ala305Val)
|
|
|
NM_007078.3(LDB3):c.915G>A (p.Ala305=)
|
rs753526743
|
|
NM_007078.3(LDB3):c.91C>G (p.Arg31Gly)
|
rs367792378
|
|
NM_007078.3(LDB3):c.923G>C (p.Cys308Ser)
|
|
|
NM_007078.3(LDB3):c.928A>G (p.Ser310Gly)
|
|
|
NM_007078.3(LDB3):c.92G>A (p.Arg31Gln)
|
rs1410128172
|
|
NM_007078.3(LDB3):c.93+1G>T
|
rs727505066
|
|
NM_007078.3(LDB3):c.930C>A (p.Ser310Arg)
|
|
|
NM_007078.3(LDB3):c.932A>C (p.Gln311Pro)
|
|
|
NM_007078.3(LDB3):c.934G>A (p.Ala312Thr)
|
|
|
NM_007078.3(LDB3):c.937A>C (p.Thr313Pro)
|
rs1310203563
|
|
NM_007078.3(LDB3):c.937A>G (p.Thr313Ala)
|
|
|
NM_007078.3(LDB3):c.93G>A (p.Arg31=)
|
rs1564626245
|
|
NM_007078.3(LDB3):c.941C>T (p.Thr314Ile)
|
|
|
NM_007078.3(LDB3):c.94A>G (p.Ile32Val)
|
|
|
NM_007078.3(LDB3):c.953C>A (p.Pro318His)
|
rs1846452720
|
|
NM_007078.3(LDB3):c.960T>C (p.Ser320=)
|
|
|
NM_007078.3(LDB3):c.961G>A (p.Ala321Thr)
|
|
|
NM_007078.3(LDB3):c.990T>C (p.Ser330=)
|
|
|
NM_007078.3(LDB3):c.998C>T (p.Ser333Leu)
|
rs1458557837
|
|
NM_007078.3(LDB3):c.99dup (p.Pro34fs)
|
rs1554849000
|
|
NM_018834.6(MATR3):c.*138T>C
|
rs1756028343
|
|
NM_018834.6(MATR3):c.*1633T>C
|
rs886059998
|
|
NM_018834.6(MATR3):c.*1821T>G
|
rs886060000
|
|
NM_018834.6(MATR3):c.*1999G>T
|
rs886060002
|
|
NM_018834.6(MATR3):c.*2077A>C
|
rs886060003
|
|
NM_018834.6(MATR3):c.*413A>T
|
rs886059995
|
|
NM_018834.6(MATR3):c.*441C>G
|
rs572126808
|
|
NM_018834.6(MATR3):c.*487C>T
|
rs1756049111
|
|
NM_018834.6(MATR3):c.*929G>A
|
rs886059997
|
|
NM_018834.6(MATR3):c.-124T>C
|
rs886059987
|
|
NM_018834.6(MATR3):c.-139G>A
|
rs886059986
|
|
NM_018834.6(MATR3):c.1003A>G (p.Thr335Ala)
|
|
|
NM_018834.6(MATR3):c.1013C>G (p.Thr338Arg)
|
|
|
NM_018834.6(MATR3):c.1090C>T (p.His364Tyr)
|
rs1561938220
|
|
NM_018834.6(MATR3):c.112A>G (p.Met38Val)
|
|
|
NM_018834.6(MATR3):c.1130-15T>A
|
|
|
NM_018834.6(MATR3):c.1130-15T>C
|
|
|
NM_018834.6(MATR3):c.1130-8C>G
|
|
|
NM_018834.6(MATR3):c.1165A>G (p.Met389Val)
|
|
|
NM_018834.6(MATR3):c.1182+4A>C
|
rs2151988816
|
|
NM_018834.6(MATR3):c.1246T>A (p.Leu416Ile)
|
|
|
NM_018834.6(MATR3):c.1273A>G (p.Ile425Val)
|
|
|
NM_018834.6(MATR3):c.1328C>A (p.Thr443Asn)
|
rs2151995266
|
|
NM_018834.6(MATR3):c.1343A>G (p.Gln448Arg)
|
|
|
NM_018834.6(MATR3):c.1344G>C (p.Gln448His)
|
|
|
NM_018834.6(MATR3):c.1345G>T (p.Ala449Ser)
|
|
|
NM_018834.6(MATR3):c.1355A>G (p.Asp452Gly)
|
|
|
NM_018834.6(MATR3):c.1356T>G (p.Asp452Glu)
|
|
|
NM_018834.6(MATR3):c.1486C>A (p.Arg496Ser)
|
|
|
NM_018834.6(MATR3):c.1486C>T (p.Arg496Cys)
|
|
|
NM_018834.6(MATR3):c.1498C>T (p.Leu500Phe)
|
|
|
NM_018834.6(MATR3):c.1531A>T (p.Ser511Cys)
|
|
|
NM_018834.6(MATR3):c.1555delinsAACTTT (p.Pro519fs)
|
|
|
NM_018834.6(MATR3):c.1572G>T (p.Lys524Asn)
|
rs1581251198
|
|
NM_018834.6(MATR3):c.1598G>A (p.Ser533Asn)
|
rs1033118784
|
|
NM_018834.6(MATR3):c.1617G>A (p.Met539Ile)
|
rs2152007107
|
|
NM_018834.6(MATR3):c.1642A>G (p.Met548Val)
|
|
|
NM_018834.6(MATR3):c.1654T>A (p.Cys552Ser)
|
rs2152007192
|
|
NM_018834.6(MATR3):c.1658T>C (p.Leu553Ser)
|
|
|
NM_018834.6(MATR3):c.1734+11T>G
|
rs886059990
|
|
NM_018834.6(MATR3):c.1736T>A (p.Ile579Asn)
|
|
|
NM_018834.6(MATR3):c.1799A>G (p.Asp600Gly)
|
|
|
NM_018834.6(MATR3):c.1813C>T (p.Pro605Ser)
|
|
|
NM_018834.6(MATR3):c.1847A>G (p.Gln616Arg)
|
rs2152009933
|
|
NM_018834.6(MATR3):c.184T>A (p.Ser62Thr)
|
rs1357612214
|
|
NM_018834.6(MATR3):c.1861T>G (p.Ser621Ala)
|
|
|
NM_018834.6(MATR3):c.1878A>T (p.Glu626Asp)
|
|
|
NM_018834.6(MATR3):c.1880A>G (p.Gln627Arg)
|
rs2152010076
|
|
NM_018834.6(MATR3):c.1894G>A (p.Gly632Ser)
|
|
|
NM_018834.6(MATR3):c.1904G>A (p.Gly635Asp)
|
rs1755638457
|
|
NM_018834.6(MATR3):c.1912G>C (p.Asp638His)
|
rs1554148872
|
|
NM_018834.6(MATR3):c.1913A>C (p.Asp638Ala)
|
rs2152010206
|
|
NM_018834.6(MATR3):c.1915A>T (p.Thr639Ser)
|
rs765603068
|
|
NM_018834.6(MATR3):c.1924G>A (p.Asp642Asn)
|
|
|
NM_018834.6(MATR3):c.1925A>G (p.Asp642Gly)
|
|
|
NM_018834.6(MATR3):c.1927C>A (p.Gln643Lys)
|
|
|
NM_018834.6(MATR3):c.1929G>C (p.Gln643His)
|
rs553655919
|
|
NM_018834.6(MATR3):c.1929G>T (p.Gln643His)
|
|
|
NM_018834.6(MATR3):c.1948A>C (p.Met650Leu)
|
rs749026971
|
|
NM_018834.6(MATR3):c.1948A>G (p.Met650Val)
|
|
|
NM_018834.6(MATR3):c.1954C>T (p.Leu652Phe)
|
rs886059991
|
|
NM_018834.6(MATR3):c.196C>A (p.Gln66Lys)
|
|
|
NM_018834.6(MATR3):c.1971G>C (p.Glu657Asp)
|
|
|
NM_018834.6(MATR3):c.2031C>T (p.Asp677=)
|
rs557085910
|
|
NM_018834.6(MATR3):c.2035A>G (p.Thr679Ala)
|
|
|
NM_018834.6(MATR3):c.2038G>C (p.Asp680His)
|
rs752161415
|
|
NM_018834.6(MATR3):c.2060T>G (p.Val687Gly)
|
|
|
NM_018834.6(MATR3):c.2066C>A (p.Ser689Tyr)
|
rs765251685
|
|
NM_018834.6(MATR3):c.2072G>A (p.Gly691Glu)
|
|
|
NM_018834.6(MATR3):c.2075A>G (p.Lys692Arg)
|
|
|
NM_018834.6(MATR3):c.2107G>A (p.Asp703Asn)
|
|
|
NM_018834.6(MATR3):c.2113A>T (p.Ser705Cys)
|
|
|
NM_018834.6(MATR3):c.2128G>T (p.Ala710Ser)
|
|
|
NM_018834.6(MATR3):c.2133G>C (p.Lys711Asn)
|
rs2152010949
|
|
NM_018834.6(MATR3):c.2148+3A>G
|
|
|
NM_018834.6(MATR3):c.2149-5T>C
|
|
|
NM_018834.6(MATR3):c.2156A>G (p.Lys719Arg)
|
|
|
NM_018834.6(MATR3):c.2167C>T (p.Leu723Phe)
|
|
|
NM_018834.6(MATR3):c.2170G>C (p.Asp724His)
|
rs1452903586
|
|
NM_018834.6(MATR3):c.2171A>T (p.Asp724Val)
|
rs1235948155
|
|
NM_018834.6(MATR3):c.2181C>G (p.Asn727Lys)
|
rs772833565
|
|
NM_018834.6(MATR3):c.2185G>A (p.Ala729Thr)
|
|
|
NM_018834.6(MATR3):c.2189C>G (p.Ala730Gly)
|
rs762668138
|
|
NM_018834.6(MATR3):c.2192T>G (p.Leu731Trp)
|
|
|
NM_018834.6(MATR3):c.2203A>C (p.Ile735Leu)
|
|
|
NM_018834.6(MATR3):c.2203A>G (p.Ile735Val)
|
|
|
NM_018834.6(MATR3):c.2219A>G (p.Asn740Ser)
|
|
|
NM_018834.6(MATR3):c.2233G>C (p.Ala745Pro)
|
rs772433814
|
|
NM_018834.6(MATR3):c.2237A>G (p.Glu746Gly)
|
|
|
NM_018834.6(MATR3):c.2254GAT[1] (p.Asp753del)
|
rs1016579955
|
|
NM_018834.6(MATR3):c.2279A>G (p.Glu760Gly)
|
|
|
NM_018834.6(MATR3):c.2300A>T (p.Asp767Val)
|
|
|
NM_018834.6(MATR3):c.2301T>A (p.Asp767Glu)
|
|
|
NM_018834.6(MATR3):c.2302_2304del (p.Glu768del)
|
|
|
NM_018834.6(MATR3):c.2310G>C (p.Lys770Asn)
|
rs1755815403
|
|
NM_018834.6(MATR3):c.2317T>A (p.Tyr773Asn)
|
|
|
NM_018834.6(MATR3):c.2317T>G (p.Tyr773Asp)
|
|
|
NM_018834.6(MATR3):c.2318A>C (p.Tyr773Ser)
|
rs368217486
|
|
NM_018834.6(MATR3):c.2318A>G (p.Tyr773Cys)
|
rs368217486
|
|
NM_018834.6(MATR3):c.2323A>G (p.Ile775Val)
|
|
|
NM_018834.6(MATR3):c.2326C>T (p.Pro776Ser)
|
rs370051410
|
|
NM_018834.6(MATR3):c.2327C>T (p.Pro776Leu)
|
|
|
NM_018834.6(MATR3):c.233C>A (p.Thr78Asn)
|
|
|
NM_018834.6(MATR3):c.2348C>A (p.Pro783Gln)
|
|
|
NM_018834.6(MATR3):c.2363T>C (p.Val788Ala)
|
|
|
NM_018834.6(MATR3):c.2371+2_2371+3insATAGACTATGTGATACCTAAAACAG
|
|
|
NM_018834.6(MATR3):c.2377G>A (p.Asp793Asn)
|
|
|
NM_018834.6(MATR3):c.2473C>G (p.Pro825Ala)
|
|
|
NM_018834.6(MATR3):c.2483A>G (p.Gln828Arg)
|
rs2152024424
|
|
NM_018834.6(MATR3):c.2493+3A>G
|
rs2152024439
|
|
NM_018834.6(MATR3):c.2494-14_2494-11del
|
|
|
NM_018834.6(MATR3):c.2494-9_2494-8delinsAA
|
|
|
NM_018834.6(MATR3):c.2496A>G (p.Lys832=)
|
|
|
NM_018834.6(MATR3):c.2521C>G (p.Arg841Gly)
|
|
|
NM_018834.6(MATR3):c.2527C>G (p.Gln843Glu)
|
rs2152033705
|
|
NM_018834.6(MATR3):c.2530AAG[1] (p.Lys845del)
|
rs1232740498
|
|
NM_018834.6(MATR3):c.2533A>G (p.Lys845Glu)
|
|
|
NM_018834.6(MATR3):c.2539A>G (p.Thr847Ala)
|
|
|
NM_018834.6(MATR3):c.272G>A (p.Ser91Asn)
|
rs1460343731
|
|
NM_018834.6(MATR3):c.298C>G (p.Gln100Glu)
|
|
|
NM_018834.6(MATR3):c.358A>G (p.Arg120Gly)
|
|
|
NM_018834.6(MATR3):c.449C>G (p.Thr150Ser)
|
rs2151960855
|
|
NM_018834.6(MATR3):c.460C>T (p.Pro154Ser)
|
rs587777302
|
|
NM_018834.6(MATR3):c.491C>T (p.Ser164Phe)
|
rs1191529191
|
|
NM_018834.6(MATR3):c.493_495del (p.Ala165del)
|
rs760040641
|
|
NM_018834.6(MATR3):c.499C>T (p.Arg167Trp)
|
rs138894013
|
|
NM_018834.6(MATR3):c.532T>C (p.Trp178Arg)
|
|
|
NM_018834.6(MATR3):c.575G>A (p.Arg192His)
|
|
|
NM_018834.6(MATR3):c.580C>T (p.Pro194Ser)
|
rs2151961098
|
|
NM_018834.6(MATR3):c.628_630del (p.Glu210del)
|
rs1754795693
|
|
NM_018834.6(MATR3):c.675A>G (p.Arg225=)
|
rs199711502
|
|
NM_018834.6(MATR3):c.687G>T (p.Arg229Ser)
|
|
|
NM_018834.6(MATR3):c.68C>T (p.Ala23Val)
|
|
|
NM_018834.6(MATR3):c.697G>A (p.Asp233Asn)
|
|
|
NM_018834.6(MATR3):c.719C>T (p.Ser240Leu)
|
rs2151961434
|
|
NM_018834.6(MATR3):c.734A>T (p.Lys245Ile)
|
|
|
NM_018834.6(MATR3):c.743G>T (p.Ser248Ile)
|
|
|
NM_018834.6(MATR3):c.749A>G (p.Tyr250Cys)
|
|
|
NM_018834.6(MATR3):c.752A>G (p.Glu251Gly)
|
|
|
NM_018834.6(MATR3):c.776C>T (p.Pro259Leu)
|
|
|
NM_018834.6(MATR3):c.786G>C (p.Glu262Asp)
|
|
|
NM_018834.6(MATR3):c.793C>A (p.Leu265Ile)
|
rs1554146560
|
|
NM_018834.6(MATR3):c.815C>G (p.Ala272Gly)
|
|
|
NM_018834.6(MATR3):c.832A>G (p.Ile278Val)
|
rs765718462
|
|
NM_018834.6(MATR3):c.857C>T (p.Pro286Leu)
|
rs1318047828
|
|
NM_018834.6(MATR3):c.85C>T (p.Leu29Phe)
|
rs1754770320
|
|
NM_018834.6(MATR3):c.878G>A (p.Cys293Tyr)
|
|
|
NM_018834.6(MATR3):c.883A>G (p.Ile295Val)
|
|
|
NM_018834.6(MATR3):c.88GCT[4] (p.Ala32_Thr33insAla)
|
|
|
NM_018834.6(MATR3):c.952C>A (p.Arg318=)
|
|
|
NM_018834.6(MATR3):c.975-9T>G
|
|
|
NM_018834.6(MATR3):c.998A>G (p.Asn333Ser)
|
|
|
NM_022173.4(TIA1):c.1002G>A (p.Met334Ile)
|
|
|
NM_022173.4(TIA1):c.1038G>C (p.Gln346His)
|
|
|
NM_022173.4(TIA1):c.1059G>T (p.Trp353Cys)
|
rs1676840992
|
|
NM_022173.4(TIA1):c.1072T>G (p.Tyr358Asp)
|
|
|
NM_022173.4(TIA1):c.1082A>C (p.Gln361Pro)
|
rs556545503
|
|
NM_022173.4(TIA1):c.1100dup (p.Asn367fs)
|
|
|
NM_022173.4(TIA1):c.1117A>G (p.Asn373Asp)
|
rs1251696640
|
|
NM_022173.4(TIA1):c.1118A>G (p.Asn373Ser)
|
rs1573120141
|
|
NM_022173.4(TIA1):c.1156del (p.Gln386fs)
|
rs1553422555
|
|
NM_022173.4(TIA1):c.124-1G>A
|
|
|
NM_022173.4(TIA1):c.125C>T (p.Thr42Ile)
|
|
|
NM_022173.4(TIA1):c.155A>C (p.Glu52Ala)
|
rs2104451000
|
|
NM_022173.4(TIA1):c.159T>G (p.Phe53Leu)
|
|
|
NM_022173.4(TIA1):c.167A>G (p.His56Arg)
|
rs1352651621
|
|
NM_022173.4(TIA1):c.172C>A (p.His58Asn)
|
rs1422884714
|
|
NM_022173.4(TIA1):c.183_194del (p.Ala62_Ala65del)
|
|
|
NM_022173.4(TIA1):c.184G>A (p.Ala62Thr)
|
|
|
NM_022173.4(TIA1):c.188T>C (p.Leu63Ser)
|
rs2104450188
|
|
NM_022173.4(TIA1):c.209A>T (p.Lys70Met)
|
rs1685916767
|
|
NM_022173.4(TIA1):c.223-6_223-3del
|
|
|
NM_022173.4(TIA1):c.27-6T>A
|
rs1573660635
|
|
NM_022173.4(TIA1):c.272C>G (p.Thr91Arg)
|
|
|
NM_022173.4(TIA1):c.277+6T>G
|
rs1685072494
|
|
NM_022173.4(TIA1):c.277+9A>G
|
|
|
NM_022173.4(TIA1):c.301C>A (p.Arg101Ser)
|
|
|
NM_022173.4(TIA1):c.302G>A (p.Arg101His)
|
|
|
NM_022173.4(TIA1):c.311A>T (p.Asp104Val)
|
rs143209672
|
|
NM_022173.4(TIA1):c.313C>T (p.His105Tyr)
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NM_022173.4(TIA1):c.31G>A (p.Val11Ile)
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NM_022173.4(TIA1):c.328G>A (p.Val110Ile)
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rs776157438
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NM_022173.4(TIA1):c.362A>G (p.Asp121Gly)
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NM_022173.4(TIA1):c.380C>T (p.Ala127Val)
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rs1558837955
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NM_022173.4(TIA1):c.397T>C (p.Ser133Pro)
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NM_022173.4(TIA1):c.398+3A>G
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rs1157656176
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NM_022173.4(TIA1):c.3G>A (p.Met1Ile)
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NM_022173.4(TIA1):c.406C>T (p.Arg136Ter)
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NM_022173.4(TIA1):c.422T>C (p.Met141Thr)
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rs1558817897
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NM_022173.4(TIA1):c.434A>C (p.Lys145Thr)
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rs2104292945
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NM_022173.4(TIA1):c.467A>C (p.Asn156Thr)
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rs2104292077
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NM_022173.4(TIA1):c.475-11G>T
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NM_022173.4(TIA1):c.475-12_475-10del
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rs2103955728
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NM_022173.4(TIA1):c.507C>T (p.Gly169=)
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rs2103954591
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NM_022173.4(TIA1):c.538_541del (p.Asn180fs)
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rs2103953996
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NM_022173.4(TIA1):c.557C>A (p.Pro186His)
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rs2103953680
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NM_022173.4(TIA1):c.562G>T (p.Ala188Ser)
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rs756853891
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NM_022173.4(TIA1):c.572G>T (p.Ser191Ile)
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NM_022173.4(TIA1):c.583+1G>A
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rs2103953108
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NM_022173.4(TIA1):c.584-14T>A
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NM_022173.4(TIA1):c.597G>C (p.Gln199His)
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rs202123982
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NM_022173.4(TIA1):c.603A>G (p.Ser201=)
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rs2103941719
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NM_022173.4(TIA1):c.634A>G (p.Ser212Gly)
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NM_022173.4(TIA1):c.652T>C (p.Cys218Arg)
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NM_022173.4(TIA1):c.679+16C>G
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rs1678655363
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NM_022173.4(TIA1):c.689T>C (p.Met230Thr)
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rs1678600341
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NM_022173.4(TIA1):c.690G>A (p.Met230Ile)
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NM_022173.4(TIA1):c.70C>G (p.Leu24Val)
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rs1254426258
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NM_022173.4(TIA1):c.737T>A (p.Phe246Tyr)
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NM_022173.4(TIA1):c.758T>G (p.Phe253Cys)
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NM_022173.4(TIA1):c.764+16_764+17insTGGTTTTTTTTTTTTTTTTTTNNNNNNNNNNNCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC
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NM_022173.4(TIA1):c.775C>A (p.His259Asn)
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rs1678165172
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NM_022173.4(TIA1):c.787G>T (p.Ala263Ser)
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rs2103907507
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NM_022173.4(TIA1):c.796A>G (p.Ile266Val)
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NM_022173.4(TIA1):c.7G>A (p.Asp3Asn)
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NM_022173.4(TIA1):c.802T>A (p.Ser268Thr)
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rs2103907183
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NM_022173.4(TIA1):c.805G>A (p.Val269Ile)
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rs1678158814
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NM_022173.4(TIA1):c.820A>T (p.Ile274Phe)
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rs539059746
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NM_022173.4(TIA1):c.850G>C (p.Gly284Arg)
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NM_022173.4(TIA1):c.880G>C (p.Val294Leu)
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NM_022173.4(TIA1):c.880G>T (p.Val294Leu)
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NM_022173.4(TIA1):c.889C>G (p.Gln297Glu)
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NM_022173.4(TIA1):c.902G>T (p.Gly301Val)
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NM_022173.4(TIA1):c.913C>T (p.Pro305Ser)
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rs2103876011
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NM_022173.4(TIA1):c.914C>G (p.Pro305Arg)
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NM_022173.4(TIA1):c.936G>T (p.Trp312Cys)
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NM_022173.4(TIA1):c.938A>G (p.Tyr313Cys)
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NM_022173.4(TIA1):c.970C>T (p.Pro324Ser)
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NM_022173.4(TIA1):c.985G>T (p.Val329Phe)
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NM_022173.4(TIA1):c.98G>T (p.Cys33Phe)
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rs1360797921
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NM_022173.4(TIA1):c.992C>T (p.Ala331Val)
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rs1677653225
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NM_024919.6(FRMD1):c.508G>T (p.Val170Leu)
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rs199740559
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NM_033337.3(CAV3):c.*658T>A
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rs556491932
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NM_033337.3(CAV3):c.182G>A (p.Ser61Asn)
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rs1060502315
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NM_033337.3(CAV3):c.254C>T (p.Ala85Val)
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rs1553614440
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NM_033337.3(CAV3):c.35A>G (p.Gln12Arg)
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rs1707652057
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NM_033337.3(CAV3):c.400G>A (p.Ala134Thr)
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rs773309037
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NM_133379.5(TTN):c.10559C>A (p.Pro3520Gln)
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rs189445085
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NM_133379.5(TTN):c.11056T>C (p.Trp3686Arg)
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rs184027783
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NM_133379.5(TTN):c.11148G>C (p.Lys3716Asn)
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|
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NM_133379.5(TTN):c.11899T>C (p.Phe3967Leu)
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rs182640468
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NM_133379.5(TTN):c.11942A>G (p.Asp3981Gly)
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rs201757429
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NM_133379.5(TTN):c.12276C>T (p.Pro4092=)
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rs902600429
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NM_133379.5(TTN):c.13705G>T (p.Glu4569Ter)
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rs372994805
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NM_133379.5(TTN):c.13748_13751del (p.Ile4583fs)
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rs1460696675
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NM_133379.5(TTN):c.14407G>A (p.Glu4803Lys)
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rs2084167410
|
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NM_133379.5(TTN):c.15304A>G (p.Thr5102Ala)
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rs371168275
|
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NM_133379.5(TTN):c.15676G>C (p.Asp5226His)
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rs147492121
|
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NM_133379.5(TTN):c.16531G>T (p.Glu5511Ter)
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rs794729307
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NM_183357.3(ADCY5):c.1368G>A (p.Met456Ile)
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rs1286137967
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NM_199189.2(MATR3):c.-563T>C
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rs1753162477
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Single allele
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