NM_003283.6(TNNT1):c.-20A>G
|
rs9636153
|
0.84878
|
NM_001103.4(ACTN2):c.877-8C>G
|
rs2288601
|
0.77958
|
NM_001276345.2(TNNT2):c.348C>T (p.Ile116=)
|
rs3729547
|
0.69444
|
NM_001103.4(ACTN2):c.*526T>C
|
rs1803032
|
0.67316
|
NM_002294.3(LAMP2):c.*4579A>G
|
rs42885
|
0.62750
|
NM_001103.4(ACTN2):c.*447C>G
|
rs1051253
|
0.51370
|
NM_001103.4(ACTN2):c.*111A>G
|
rs1051251
|
0.50750
|
NM_001103.4(ACTN2):c.*748A>G
|
rs7522310
|
0.49528
|
NM_002294.3(LAMP2):c.156A>T (p.Val52=)
|
rs12097
|
0.39324
|
NM_001256715.2(DNAAF3):c.1239-8A>G
|
rs28377509
|
0.36480
|
NM_000363.5(TNNI3):c.25-8T>A
|
rs3729836
|
0.35138
|
NM_001256715.2(DNAAF3):c.1056G>A (p.Pro352=)
|
rs891187
|
0.29351
|
NM_002294.3(LAMP2):c.*5038A>G
|
rs2748
|
0.28585
|
NM_001256715.2(DNAAF3):c.666T>C (p.Ala222=)
|
rs7260320
|
0.27290
|
NM_001256715.2(DNAAF3):c.875A>G (p.Glu292Gly)
|
rs2365725
|
0.24847
|
NM_001256715.2(DNAAF3):c.790-14C>T
|
rs7260371
|
0.24759
|
NM_001103.4(ACTN2):c.*724G>C
|
rs7532533
|
0.18973
|
NM_001103.4(ACTN2):c.2610G>A (p.Ser870=)
|
rs12063382
|
0.16345
|
NM_005159.4(ACTC1):c.*918delA
|
rs34323254
|
0.13239
|
NM_002294.3(LAMP2):c.*1314T>C
|
rs5957381
|
0.09876
|
NM_002294.3(LAMP2):c.*297A>C
|
rs8160
|
0.09815
|
NM_002294.3(LAMP2):c.*3248G>A
|
rs5957380
|
0.09812
|
NM_002294.3(LAMP2):c.*4671C>T
|
rs1045953
|
0.09801
|
NM_002294.3(LAMP2):c.*486A>G
|
rs5957383
|
0.09784
|
NM_002294.3(LAMP2):c.*2395A>G
|
rs10127185
|
0.09686
|
NM_002294.3(LAMP2):c.*2261A>G
|
rs12395643
|
0.09416
|
NM_002294.3(LAMP2):c.*2460A>G
|
rs10127182
|
0.08629
|
NM_033118.3(MYLK2):c.*911T>A
|
rs7269370
|
0.08602
|
NM_002294.3(LAMP2):c.*2195T>C
|
rs13441024
|
0.08473
|
NM_001276345.2(TNNT2):c.237G>A (p.Ser79=)
|
rs3729845
|
0.08311
|
NM_000363.5(TNNI3):c.-35C>A
|
rs3729707
|
0.07367
|
NM_000363.5(TNNI3):c.150+13G>A
|
rs73617692
|
0.07353
|
NM_002294.3(LAMP2):c.*1096T>C
|
rs5957382
|
0.06824
|
NM_003283.6(TNNT1):c.35A>G (p.Glu12Gly)
|
rs112562759
|
0.06801
|
NM_000169.3(GLA):c.-12G>A
|
rs3027585
|
0.06554
|
NM_000169.3(GLA):c.-10C>T
|
rs2071225
|
0.06441
|
NM_000257.4(MYH7):c.*113G>A
|
rs17794387
|
0.06427
|
NM_001256715.2(DNAAF3):c.1164-14C>T
|
rs60176657
|
0.06188
|
NM_001256715.2(DNAAF3):c.510A>G (p.Val170=)
|
rs56726774
|
0.06016
|
NM_001276345.2(TNNT2):c.788A>G (p.Lys263Arg)
|
rs3730238
|
0.05965
|
NM_001256715.2(DNAAF3):c.1001T>C (p.Leu334Pro)
|
rs890871
|
0.05642
|
NM_001256715.2(DNAAF3):c.327A>G (p.Arg109=)
|
rs3848618
|
0.05626
|
NM_001256715.2(DNAAF3):c.529G>A (p.Gly177Ser)
|
rs58824375
|
0.05620
|
NM_001103.4(ACTN2):c.*954G>A
|
rs2153203
|
0.05552
|
NM_001103.4(ACTN2):c.*700A>G
|
rs12733179
|
0.04737
|
NM_001103.4(ACTN2):c.1296G>A (p.Ala432=)
|
rs35956798
|
0.04366
|
NM_003283.6(TNNT1):c.33-8G>A
|
rs76630067
|
0.04332
|
NM_000363.5(TNNI3):c.204G>T (p.Arg68=)
|
rs3729711
|
0.04033
|
NM_000169.2(GLA):c.-105A>G
|
rs3027583
|
0.04009
|
NM_001103.4(ACTN2):c.2139G>A (p.Thr713=)
|
rs34975493
|
0.03463
|
NM_002294.3(LAMP2):c.*1071G>T
|
rs2285548
|
0.03391
|
NM_000363.5(TNNI3):c.198G>A (p.Glu66=)
|
rs3729710
|
0.03372
|
NM_002294.3(LAMP2):c.*1589A>G
|
rs73612906
|
0.03180
|
NM_002294.3(LAMP2):c.927C>T (p.Ser309=)
|
rs73219144
|
0.02702
|
NM_001103.4(ACTN2):c.*423A>G
|
rs114880747
|
0.02581
|
NM_001018004.2(TPM1):c.*119T>C
|
rs138843544
|
0.02527
|
NM_002294.3(LAMP2):c.*205C>T
|
rs41300191
|
0.02502
|
NM_001103.4(ACTN2):c.-22C>T
|
rs138279482
|
0.02321
|
NM_001103.4(ACTN2):c.1810A>G (p.Met604Val)
|
rs35997569
|
0.01914
|
NM_001276345.2(TNNT2):c.*66G>A
|
rs3729998
|
0.01883
|
NM_002294.3(LAMP2):c.*2524T>C
|
rs150119198
|
0.01799
|
NM_002294.3(LAMP2):c.*4562A>G
|
rs142200759
|
0.01528
|
NM_002294.3(LAMP2):c.*1617C>T
|
rs141881232
|
0.01521
|
NM_001276345.2(TNNT2):c.163+12G>A
|
rs45580032
|
0.01441
|
NM_002471.4(MYH6):c.3979-7del
|
rs397516766
|
0.01401
|
NM_002294.3(LAMP2):c.*2746A>G
|
rs3827478
|
0.01396
|
NM_003476.4(CSRP3):c.-252G>A
|
rs59444364
|
0.01356
|
NM_002294.3(LAMP2):c.*3249T>C
|
rs41300908
|
0.01188
|
NM_001276345.2(TNNT2):c.294+7G>A
|
rs45490292
|
0.01066
|
NM_002294.3(LAMP2):c.*2162G>A
|
rs767123866
|
0.00966
|
NM_001256715.2(DNAAF3):c.1405G>A (p.Val469Met)
|
rs114601492
|
0.00882
|
NM_002294.3(LAMP2):c.*5048A>T
|
rs113285013
|
0.00807
|
NM_002471.4(MYH6):c.-64G>C
|
rs79618123
|
0.00747
|
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser)
|
rs77615401
|
0.00699
|
NM_000363.4(TNNI3):c.-148A>G
|
rs73935313
|
0.00695
|
NM_001199973.2(RPL36A-HNRNPH2):c.301-3908A>C
|
rs185255090
|
0.00585
|
NM_000257.4(MYH7):c.*20G>A
|
rs45548631
|
0.00463
|
NM_003476.4(CSRP3):c.-181delC
|
rs886048102
|
0.00372
|
NM_001103.4(ACTN2):c.*396G>A
|
rs181994486
|
0.00359
|
NC_000014.9:g.23408281C>T
|
rs142094404
|
0.00318
|
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr)
|
rs28935490
|
0.00308
|
NM_002294.3(LAMP2):c.*1356C>G
|
rs188897063
|
0.00249
|
NM_002294.3(LAMP2):c.*586A>G
|
rs41312757
|
0.00248
|
NM_001256715.2(DNAAF3):c.531C>T (p.Gly177=)
|
rs559008223
|
0.00192
|
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser)
|
rs72648247
|
0.00184
|
NM_000363.5(TNNI3):c.-85A>C
|
rs186540595
|
0.00142
|
NM_001267550.2(TTN):c.66702C>T (p.Ala22234=)
|
rs371802557
|
0.00134
|
NM_001018005.1(TPM1):c.-206G>A
|
rs17525848
|
0.00111
|
NM_001103.4(ACTN2):c.1383C>T (p.Ile461=)
|
rs34827377
|
0.00106
|
NM_000363.5(TNNI3):c.-103C>T
|
rs557391836
|
0.00102
|
NM_002294.3(LAMP2):c.*4963del
|
rs754879365
|
0.00097
|
NM_002294.3(LAMP2):c.*853G>A
|
rs763861761
|
0.00088
|
NM_002294.3(LAMP2):c.*3687T>C
|
rs185627568
|
0.00067
|
NM_001103.4(ACTN2):c.2649G>A (p.Ala883=)
|
rs146426213
|
0.00066
|
NM_002294.3(LAMP2):c.339C>T (p.Ser113=)
|
rs147369153
|
0.00066
|
NM_000257.4(MYH7):c.3156G>A (p.Lys1052=)
|
rs138294643
|
0.00063
|
NM_000257.4(MYH7):c.2769C>T (p.Asn923=)
|
rs36211716
|
0.00060
|
NM_005159.4(ACTC1):c.*1781C>T
|
rs560065427
|
0.00041
|
NM_002294.3(LAMP2):c.*4961A>G
|
rs765371462
|
0.00039
|
NM_002294.3(LAMP2):c.*1632A>G
|
rs755434692
|
0.00037
|
NM_005159.4(ACTC1):c.*983C>T
|
rs549986676
|
0.00035
|
NM_000256.3(MYBPC3):c.471C>T (p.Phe157=)
|
rs150291001
|
0.00034
|
NM_002294.3(LAMP2):c.*2148A>G
|
rs756504749
|
0.00031
|
NM_001103.4(ACTN2):c.1406+8C>T
|
rs397516567
|
0.00026
|
NM_002294.3(LAMP2):c.*5172A>G
|
rs778592348
|
0.00024
|
NM_033118.4(MYLK2):c.*563A>G
|
rs190077645
|
0.00023
|
NM_000256.3(MYBPC3):c.74G>A (p.Ser25Asn)
|
rs371140684
|
0.00021
|
NM_016599.5(MYOZ2):c.*192_*193insATA
|
rs536614678
|
0.00019
|
NM_000257.4(MYH7):c.*105T>C
|
rs200550717
|
0.00018
|
NM_002294.3(LAMP2):c.*477T>C
|
rs750939378
|
0.00018
|
NM_000256.3(MYBPC3):c.3415G>A (p.Val1139Ile)
|
rs373519667
|
0.00017
|
NM_001267550.2(TTN):c.92699A>G (p.Asn30900Ser)
|
rs186234393
|
0.00015
|
NM_002294.3(LAMP2):c.591G>A (p.Val197=)
|
rs201030806
|
0.00014
|
NM_000169.3(GLA):c.48T>G (p.Leu16=)
|
rs201449986
|
0.00011
|
NM_000432.4(MYL2):c.274+9G>A
|
rs371405579
|
0.00010
|
NM_133379.5(TTN):c.16001C>T (p.Pro5334Leu)
|
rs151253841
|
0.00010
|
NM_001267550.2(TTN):c.97247C>T (p.Ser32416Leu)
|
rs377412567
|
0.00009
|
NM_002294.3(LAMP2):c.*2005C>G
|
rs200014321
|
0.00009
|
NM_002294.3(LAMP2):c.*4763A>T
|
rs761928368
|
0.00009
|
NM_002294.3(LAMP2):c.157C>T (p.Arg53Cys)
|
rs752321157
|
0.00009
|
NM_002471.4(MYH6):c.3604G>A (p.Val1202Met)
|
rs368451573
|
0.00008
|
NM_000432.4(MYL2):c.3+9A>G
|
rs201763406
|
0.00007
|
NM_001103.4(ACTN2):c.*1274_*1275del
|
rs771809993
|
0.00007
|
NM_002294.3(LAMP2):c.*1191A>T
|
rs1004327482
|
0.00007
|
NM_000256.3(MYBPC3):c.1553T>C (p.Met518Thr)
|
rs886048378
|
0.00006
|
NM_001267550.2(TTN):c.76922G>A (p.Arg25641His)
|
rs369707906
|
0.00006
|
NM_001276345.2(TNNT2):c.601-8C>T
|
rs397516475
|
0.00006
|
NM_002294.3(LAMP2):c.*2183T>C
|
rs765214315
|
0.00006
|
NM_002294.3(LAMP2):c.*3689T>C
|
rs975386272
|
0.00006
|
NM_002294.3(LAMP2):c.*721A>C
|
rs887326511
|
0.00006
|
NM_000257.4(MYH7):c.153C>T (p.Ile51=)
|
rs373145667
|
0.00005
|
NM_002294.3(LAMP2):c.*1672C>T
|
rs1024440041
|
0.00005
|
NM_002294.3(LAMP2):c.*2538A>C
|
rs1057515739
|
0.00005
|
NM_013995.2(LAMP2):c.-154T>C
|
rs999307628
|
0.00005
|
NM_000256.3(MYBPC3):c.1056C>G (p.Leu352=)
|
rs375007425
|
0.00004
|
NM_000257.4(MYH7):c.4158C>T (p.Leu1386=)
|
rs886050418
|
0.00004
|
NM_001276345.2(TNNT2):c.720-5T>G
|
rs730881092
|
0.00004
|
NM_005159.4(ACTC1):c.*1318T>G
|
rs759530643
|
0.00004
|
NM_144573.4(NEXN):c.1892T>C (p.Ile631Thr)
|
rs775292649
|
0.00004
|
NM_000256.3(MYBPC3):c.3191-7C>T
|
rs373012629
|
0.00003
|
NM_000256.3(MYBPC3):c.927-10C>T
|
rs201078659
|
0.00003
|
NM_001018005.2(TPM1):c.-48C>T
|
rs747523720
|
0.00003
|
NM_001103.4(ACTN2):c.-3G>T
|
rs201920417
|
0.00003
|
NM_001267550.2(TTN):c.43316G>A (p.Arg14439His)
|
rs764117439
|
0.00003
|
NM_001276345.2(TNNT2):c.691A>G (p.Ile231Val)
|
rs886045828
|
0.00003
|
NM_002294.3(LAMP2):c.*4858A>G
|
rs943561186
|
0.00003
|
NM_000169.3(GLA):c.457G>A (p.Asp153Asn)
|
rs370299397
|
0.00002
|
NM_000256.3(MYBPC3):c.1812C>T (p.Asp604=)
|
rs397515929
|
0.00002
|
NM_000257.4(MYH7):c.733-3C>T
|
rs765068619
|
0.00002
|
NM_000258.3(MYL3):c.532G>A (p.Asp178Asn)
|
rs145520567
|
0.00002
|
NM_001267550.2(TTN):c.21800G>A (p.Gly7267Asp)
|
rs375627540
|
0.00002
|
NM_001267550.2(TTN):c.74549A>G (p.Asp24850Gly)
|
rs573415766
|
0.00002
|
NM_002471.4(MYH6):c.1822G>A (p.Ala608Thr)
|
rs886050409
|
0.00002
|
NM_002471.4(MYH6):c.212T>C (p.Val71Ala)
|
rs769686237
|
0.00002
|
NM_002471.4(MYH6):c.934G>A (p.Ala312Thr)
|
rs748143404
|
0.00002
|
NM_005159.5(ACTC1):c.-36C>G
|
rs886051091
|
0.00002
|
NM_000256.3(MYBPC3):c.332C>T (p.Ala111Val)
|
rs730880530
|
0.00001
|
NM_000257.4(MYH7):c.2922+6G>C
|
rs781192476
|
0.00001
|
NM_000257.4(MYH7):c.4321G>T (p.Ala1441Ser)
|
rs745414245
|
0.00001
|
NM_001042475.3(CEP85L):c.1020+17181A>T
|
rs779232815
|
0.00001
|
NM_001042475.3(CEP85L):c.1020+6250A>T
|
rs886060999
|
0.00001
|
NM_001267550.2(TTN):c.16709C>T (p.Thr5570Ile)
|
rs535319438
|
0.00001
|
NM_001267550.2(TTN):c.40408+7_40408+10dup
|
rs397517560
|
0.00001
|
NM_001267550.2(TTN):c.55432+5G>C
|
rs754717390
|
0.00001
|
NM_001267550.2(TTN):c.59912C>T (p.Ala19971Val)
|
rs886055258
|
0.00001
|
NM_001267550.2(TTN):c.7156G>A (p.Gly2386Ser)
|
rs777101912
|
0.00001
|
NM_001267550.2(TTN):c.77561C>T (p.Thr25854Ile)
|
rs886055245
|
0.00001
|
NM_005159.4(ACTC1):c.*1090A>G
|
rs886051070
|
0.00001
|
NM_005159.4(ACTC1):c.-109C>A
|
rs886051097
|
0.00001
|
NM_000256.3(MYBPC3):c.*163C>A
|
rs886048366
|
|
NM_000256.3(MYBPC3):c.*230del
|
rs376645369
|
|
NM_000256.3(MYBPC3):c.*26+3A>G
|
rs886048369
|
|
NM_000256.3(MYBPC3):c.*327C>A
|
rs886048364
|
|
NM_000256.3(MYBPC3):c.*95G>T
|
rs886048368
|
|
NM_000256.3(MYBPC3):c.1458-9C>T
|
rs886048379
|
|
NM_000256.3(MYBPC3):c.2603-4C>A
|
rs886048377
|
|
NM_000256.3(MYBPC3):c.2603G>T (p.Gly868Val)
|
rs886048376
|
|
NM_000256.3(MYBPC3):c.2622C>A (p.Thr874=)
|
rs886048375
|
|
NM_000256.3(MYBPC3):c.2639A>C (p.Asp880Ala)
|
rs886048374
|
|
NM_000256.3(MYBPC3):c.2854C>G (p.Pro952Ala)
|
rs554694434
|
|
NM_000256.3(MYBPC3):c.2892G>T (p.Val964=)
|
rs886048372
|
|
NM_000256.3(MYBPC3):c.2905+7G>C
|
rs886048371
|
|
NM_000256.3(MYBPC3):c.3627+6G>T
|
rs886048370
|
|
NM_000256.3(MYBPC3):c.506-12del
|
rs11570050
|
|
NM_000256.3(MYBPC3):c.927-7G>T
|
rs886048381
|
|
NM_000257.4(MYH7):c.-39C>A
|
rs886050424
|
|
NM_000257.4(MYH7):c.-47G>T
|
rs886050425
|
|
NM_000257.4(MYH7):c.2968G>A (p.Ala990Thr)
|
rs753137666
|
|
NM_000257.4(MYH7):c.3337-4dup
|
rs45504498
|
|
NM_000257.4(MYH7):c.449C>G (p.Ala150Gly)
|
rs879196018
|
|
NM_000257.4(MYH7):c.5482G>A (p.Ala1828Thr)
|
rs886050415
|
|
NM_000258.3(MYL3):c.*205C>A
|
rs886058581
|
|
NM_000363.5(TNNI3):c.-133G>T
|
rs886054636
|
|
NM_000363.5(TNNI3):c.12-7del
|
rs370714315
|
|
NM_000363.5(TNNI3):c.157C>T (p.Leu53=)
|
rs763981651
|
|
NM_000432.4(MYL2):c.4-3del
|
rs886048961
|
|
NM_001018005.2(TPM1):c.*97CT[2]
|
rs886051321
|
|
NM_001042475.3(CEP85L):c.1020+6013_1020+6015del
|
rs765386927
|
|
NM_001103.4(ACTN2):c.-98CGCCGCC[2]
|
rs552471202
|
|
NM_001103.4(ACTN2):c.-98CGCCGCC[4]
|
rs552471202
|
|
NM_001103.4(ACTN2):c.1031A>C (p.Asn344Thr)
|
rs886046206
|
|
NM_001103.4(ACTN2):c.18C>A (p.Pro6=)
|
rs368367224
|
|
NM_001256715.2(DNAAF3):c.1093= (p.Asn365=)
|
rs890872
|
|
NM_001267550.2(TTN):c.*99dup
|
rs11424072
|
|
NM_001267550.2(TTN):c.100172-17dup
|
rs397517782
|
|
NM_001267550.2(TTN):c.100766-10del
|
rs749872538
|
|
NM_001267550.2(TTN):c.101038A>G (p.Lys33680Glu)
|
rs886055226
|
|
NM_001267550.2(TTN):c.103924_103926del (p.Pro34642del)
|
rs771366227
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[11]
|
rs71393436
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[8]
|
rs71393436
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[9]
|
rs71393436
|
|
NM_001267550.2(TTN):c.2758C>T (p.His920Tyr)
|
rs886055307
|
|
NM_001267550.2(TTN):c.30683-3del
|
rs368277751
|
|
NM_001267550.2(TTN):c.34241AAG[2] (p.Glu11416del)
|
rs397517549
|
|
NM_001267550.2(TTN):c.40408+8del
|
rs727504922
|
|
NM_001267550.2(TTN):c.40576GAA[3] (p.Glu13529del)
|
rs727504199
|
|
NM_001267550.2(TTN):c.44913+10dup
|
rs745700983
|
|
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.5953A>G (p.Ile1985Val)
|
rs886055303
|
|
NM_001267550.2(TTN):c.60050AAG[2] (p.Glu20019del)
|
rs886055257
|
|
NM_001267550.2(TTN):c.69095A>T (p.His23032Leu)
|
rs886055251
|
|
NM_001267550.2(TTN):c.83592C>G (p.Pro27864=)
|
rs760755965
|
|
NM_001267550.2(TTN):c.915-7dup
|
rs730880351
|
|
NM_001267550.2(TTN):c.99830G>A (p.Gly33277Glu)
|
rs397517781
|
|
NM_001267550.2(TTN):c.99903A>G (p.Glu33301=)
|
rs886055227
|
|
NM_001276345.2(TNNT2):c.-22G>T
|
rs886045829
|
|
NM_001276345.2(TNNT2):c.53-11_53-7del
|
rs45533739
|
|
NM_002294.3(LAMP2):c.*1701dup
|
rs373005118
|
|
NM_002294.3(LAMP2):c.*2148AT[8]
|
rs753399289
|
|
NM_002294.3(LAMP2):c.*2148AT[9]
|
rs753399289
|
|
NM_002294.3(LAMP2):c.*2736T>A
|
rs1057515738
|
|
NM_002294.3(LAMP2):c.*3031dup
|
rs113549733
|
|
NM_002294.3(LAMP2):c.*3347GTTA[1]
|
rs764018077
|
|
NM_002294.3(LAMP2):c.*33A>G
|
rs745798436
|
|
NM_002294.3(LAMP2):c.*3459GTT[3]
|
rs199705754
|
|
NM_002294.3(LAMP2):c.*3677C>A
|
rs1057515737
|
|
NM_002294.3(LAMP2):c.*653A>G
|
rs1057515744
|
|
NM_002294.3(LAMP2):c.*692G>A
|
rs1057515743
|
|
NM_002294.3(LAMP2):c.-103G>C
|
rs1057515747
|
|
NM_002294.3(LAMP2):c.-4G>C
|
rs200297370
|
|
NM_002294.3(LAMP2):c.1048C>G (p.Leu350Val)
|
rs1057515745
|
|
NM_002294.3(LAMP2):c.997A>G (p.Lys333Glu)
|
rs1057515746
|
|
NM_002471.4(MYH6):c.3979-8del
|
rs193922652
|
|
NM_002471.4(MYH6):c.3979-8dup
|
rs193922652
|
|
NM_002471.4(MYH6):c.675C>T (p.Asn225=)
|
rs886050413
|
|
NM_003476.4(CSRP3):c.-161delG
|
rs138573509
|
|
NM_003476.4(CSRP3):c.-162_-161AG[6]
|
rs886048098
|
|
NM_003476.4(CSRP3):c.-180delA
|
rs34865888
|
|
NM_003476.4(CSRP3):c.-182delT
|
rs886048103
|
|
NM_005159.4(ACTC1):c.*1062G>A
|
rs886051072
|
|
NM_005159.4(ACTC1):c.*1070A>C
|
rs886051071
|
|
NM_005159.4(ACTC1):c.*1115A>T
|
rs886051069
|
|
NM_005159.4(ACTC1):c.*1482G>T
|
rs886051066
|
|
NM_005159.4(ACTC1):c.*1502G>T
|
rs886051065
|
|
NM_005159.4(ACTC1):c.*1753G>T
|
rs886051064
|
|
NM_005159.4(ACTC1):c.*1797C>A
|
rs886051063
|
|
NM_005159.4(ACTC1):c.*2168G>T
|
rs886051061
|
|
NM_005159.4(ACTC1):c.*224G>C
|
rs551820554
|
|
NM_005159.4(ACTC1):c.*247G>A
|
rs886051088
|
|
NM_005159.4(ACTC1):c.*284G>A
|
rs886051087
|
|
NM_005159.4(ACTC1):c.*307T>A
|
rs886051086
|
|
NM_005159.4(ACTC1):c.*422T>A
|
rs886051084
|
|
NM_005159.4(ACTC1):c.*561C>A
|
rs886051083
|
|
NM_005159.4(ACTC1):c.*643C>A
|
rs886051081
|
|
NM_005159.4(ACTC1):c.*646C>A
|
rs886051080
|
|
NM_005159.4(ACTC1):c.*674C>A
|
rs886051079
|
|
NM_005159.4(ACTC1):c.*708G>T
|
rs886051077
|
|
NM_005159.4(ACTC1):c.*739G>T
|
rs886051076
|
|
NM_005159.4(ACTC1):c.*775C>A
|
rs886051075
|
|
NM_005159.4(ACTC1):c.*935G>T
|
rs766542832
|
|
NM_005159.4(ACTC1):c.-101G>T
|
rs886051095
|
|
NM_005159.4(ACTC1):c.-105C>A
|
rs886051096
|
|
NM_005159.4(ACTC1):c.-175C>A
|
rs886051098
|
|
NM_005159.4(ACTC1):c.-194C>A
|
rs886051099
|
|
NM_005159.5(ACTC1):c.-55C>A
|
rs886051093
|
|
NM_005159.5(ACTC1):c.-55CCG[3]
|
rs886051092
|
|
NM_005159.5(ACTC1):c.809-12_809-11insGT
|
rs774238821
|
|
NM_005159.5(ACTC1):c.809-58TG[17]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[21]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[22]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[24]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[25]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[26]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.978C>A (p.Thr326=)
|
rs886051089
|
|
NM_013995.2(LAMP2):c.-168dup
|
rs760941179
|
|
NM_016599.5(MYOZ2):c.*1262del
|
rs533440962
|
|
NM_016599.5(MYOZ2):c.*1262dup
|
rs533440962
|
|
NM_016599.5(MYOZ2):c.-15+11dup
|
rs58371596
|
|
NM_033337.3(CAV3):c.*725T>C
|
rs886058918
|
|
NM_144573.3(NEXN):c.-212_-210GGC[7]
|
rs528439602
|
|
NM_144573.4(NEXN):c.*418del
|
rs368295679
|
|
NM_144573.4(NEXN):c.*418dup
|
rs368295679
|
|
NM_144573.4(NEXN):c.*4CT[1]
|
rs553696163
|
|