NM_001100.4(ACTA1):c.455-53A>C
|
rs527621
|
0.99850
|
NM_000540.3(RYR1):c.1077T>C (p.Ala359=)
|
rs10406027
|
0.90489
|
NM_000540.3(RYR1):c.1441-24T>C
|
rs7254832
|
0.90133
|
NM_000540.3(RYR1):c.1668G>A (p.Ser556=)
|
rs2288888
|
0.64200
|
NM_001100.4(ACTA1):c.-65T>C
|
rs605430
|
0.63378
|
NM_001100.4(ACTA1):c.-66C>T
|
rs605428
|
0.63361
|
NM_000540.3(RYR1):c.2286C>T (p.Pro762=)
|
rs3745847
|
0.62871
|
NM_152263.4(TPM3):c.776-49T>C
|
rs4845364
|
0.62465
|
NM_000540.3(RYR1):c.594A>G (p.Leu198=)
|
rs2229139
|
0.60966
|
NM_000540.3(RYR1):c.2943G>A (p.Thr981=)
|
rs2228069
|
0.60233
|
NM_000540.3(RYR1):c.7835+5A>G
|
rs1469695
|
0.38217
|
NM_000540.3(RYR1):c.3456C>T (p.Ile1152=)
|
rs11083462
|
0.38131
|
NM_000540.3(RYR1):c.7926+28A>G
|
rs1469699
|
0.34603
|
NM_000540.3(RYR1):c.8190T>C (p.Asp2730=)
|
rs2915951
|
0.33482
|
NM_000540.3(RYR1):c.7977G>A (p.Thr2659=)
|
rs2229144
|
0.33092
|
NM_000540.3(RYR1):c.8118T>C (p.Ile2706=)
|
rs2960340
|
0.33086
|
NM_000540.3(RYR1):c.8589T>C (p.Ser2863=)
|
rs2229146
|
0.32548
|
NM_000540.3(RYR1):c.9186A>G (p.Pro3062=)
|
rs2071089
|
0.32394
|
NM_000540.3(RYR1):c.8816+17T>A
|
rs2915959
|
0.32203
|
NM_000540.3(RYR1):c.8693-10G>C
|
rs2915958
|
0.32159
|
NM_000540.3(RYR1):c.8337G>A (p.Glu2779=)
|
rs2915952
|
0.32150
|
NM_000540.3(RYR1):c.8400+28A>G
|
rs2915953
|
0.32146
|
NM_000540.3(RYR1):c.8816+43A>C
|
rs2960346
|
0.32141
|
NM_000540.3(RYR1):c.8541+37T>G
|
rs2960343
|
0.31600
|
NM_000540.3(RYR1):c.8617-35C>T
|
rs2960344
|
0.31588
|
NM_000540.3(RYR1):c.8692+28T>G
|
rs2960345
|
0.31541
|
NM_152263.4(TPM3):c.*2185C>T
|
rs10908723
|
0.31228
|
NM_000540.3(RYR1):c.8541+34C>T
|
rs2960342
|
0.31072
|
NM_152263.4(TPM3):c.*4968A>G
|
rs4446955
|
0.30357
|
NM_152263.4(TPM3):c.*1032T>G
|
rs6673171
|
0.29627
|
NM_152263.4(TPM3):c.*5856T>G
|
rs3196889
|
0.29506
|
NM_001100.4(ACTA1):c.130-5T>C
|
rs11803533
|
0.26938
|
NM_000540.3(RYR1):c.7614+10C>G
|
rs2960323
|
0.23284
|
NM_001100.4(ACTA1):c.130-10G>C
|
rs41271481
|
0.20670
|
NM_000540.3(RYR1):c.2979C>T (p.Asn993=)
|
rs2228070
|
0.19758
|
NM_000540.3(RYR1):c.4161-6T>C
|
rs55845760
|
0.19230
|
NM_000540.3(RYR1):c.7872C>T (p.Arg2624=)
|
rs1469698
|
0.17268
|
NM_000540.3(RYR1):c.7863C>T (p.His2621=)
|
rs2229142
|
0.16420
|
NM_152263.4(TPM3):c.*3248G>A
|
rs12026177
|
0.15247
|
NM_000257.4(MYH7):c.5106G>A (p.Ala1702=)
|
rs3729830
|
0.14676
|
NM_152263.4(TPM3):c.*2719G>A
|
rs11265201
|
0.14345
|
NM_152263.4(TPM3):c.*2565G>A
|
rs6661996
|
0.14338
|
NM_152263.4(TPM3):c.*2784C>T
|
rs9628669
|
0.14320
|
NM_152263.4(TPM3):c.*3822G>T
|
rs12063890
|
0.13205
|
NM_152263.4(TPM3):c.*2211A>C
|
rs6672584
|
0.12577
|
NM_000540.3(RYR1):c.10687-7C>T
|
rs2960354
|
0.12378
|
NM_000540.3(RYR1):c.7098C>T (p.Pro2366=)
|
rs2229147
|
0.10248
|
NM_000540.3(RYR1):c.7500G>A (p.Ala2500=)
|
rs2228072
|
0.09736
|
NM_000540.3(RYR1):c.7527G>A (p.Val2509=)
|
rs2071088
|
0.08780
|
NM_032279.4(ATP13A4):c.1938A>T (p.Glu646Asp)
|
rs35424709
|
0.07775
|
NM_000540.3(RYR1):c.6039A>G (p.Lys2013=)
|
rs2228068
|
0.07074
|
NM_000540.3(RYR1):c.5334G>T (p.Ser1778=)
|
rs35566549
|
0.06569
|
NM_000540.3(RYR1):c.7089C>T (p.Cys2363=)
|
rs2228071
|
0.06536
|
NM_000540.3(RYR1):c.9690G>A (p.Leu3230=)
|
rs2304151
|
0.05835
|
NM_000540.3(RYR1):c.6178G>T (p.Gly2060Cys)
|
rs35364374
|
0.04719
|
NM_000540.3(RYR1):c.4024A>G (p.Ser1342Gly)
|
rs34694816
|
0.04715
|
NM_000540.3(RYR1):c.3858T>C (p.Leu1286=)
|
rs16972636
|
0.04660
|
NM_000540.3(RYR1):c.13317C>T (p.Ala4439=)
|
rs113579185
|
0.04642
|
NM_000540.3(RYR1):c.10687-10C>T
|
rs77592501
|
0.04475
|
NM_000540.3(RYR1):c.-108T>C
|
rs4632259
|
0.04408
|
NM_000540.3(RYR1):c.13671C>G (p.Ser4557=)
|
rs35959206
|
0.04188
|
NM_000540.3(RYR1):c.10218C>T (p.Tyr3406=)
|
rs41274330
|
0.03876
|
NM_000540.3(RYR1):c.12094+11A>G
|
rs73933018
|
0.03267
|
NM_000540.3(RYR1):c.9555-13C>T
|
rs2960328
|
0.03214
|
NM_000540.3(RYR1):c.2871-5C>T
|
rs45585535
|
0.03110
|
NM_000540.3(RYR1):c.7260C>T (p.His2420=)
|
rs12973632
|
0.03031
|
NM_000540.3(RYR1):c.4107C>T (p.Pro1369=)
|
rs11882640
|
0.02972
|
NM_000540.3(RYR1):c.5112C>T (p.Gly1704=)
|
rs35352076
|
0.02832
|
NM_000540.3(RYR1):c.1577-6C>G
|
rs61586345
|
0.02394
|
NM_000540.3(RYR1):c.5622A>G (p.Glu1874=)
|
rs35021937
|
0.02251
|
NM_000540.3(RYR1):c.11754T>A (p.Thr3918=)
|
rs45613041
|
0.02154
|
NM_000540.3(RYR1):c.11908-14A>G
|
rs2292799
|
0.02149
|
NM_000540.3(RYR1):c.11266C>G (p.Gln3756Glu)
|
rs4802584
|
0.02143
|
NM_000540.3(RYR1):c.13503G>A (p.Pro4501=)
|
rs2960319
|
0.01964
|
NM_152263.4(TPM3):c.*389G>A
|
rs74731791
|
0.01922
|
NM_001100.4(ACTA1):c.996C>A (p.Ile332=)
|
rs74897770
|
0.01920
|
NM_000540.3(RYR1):c.12624+14C>T
|
rs75797287
|
0.01777
|
NM_000540.3(RYR1):c.11547G>A (p.Gln3849=)
|
rs142518033
|
0.01592
|
NM_000540.3(RYR1):c.5360C>T (p.Pro1787Leu)
|
rs34934920
|
0.01583
|
NM_152263.4(TPM3):c.*2409G>C
|
rs142369480
|
0.01426
|
NM_058172.6(ANTXR2):c.225-4G>A
|
rs141355689
|
0.01410
|
NM_000540.3(RYR1):c.7835+7C>T
|
rs114522234
|
0.01374
|
NM_000257.4(MYH7):c.1767C>T (p.Asn589=)
|
rs3729816
|
0.01311
|
NM_000540.3(RYR1):c.12012+19T>C
|
rs181590606
|
0.01243
|
NM_000540.3(RYR1):c.10747G>C (p.Glu3583Gln)
|
rs55876273
|
0.01228
|
NM_152263.4(TPM3):c.*1791G>A
|
rs114799756
|
0.01222
|
NM_152263.4(TPM3):c.*4333A>G
|
rs34629044
|
0.01027
|
NM_000540.3(RYR1):c.11625G>A (p.Ala3875=)
|
rs61729397
|
0.00991
|
NM_000540.3(RYR1):c.7737G>A (p.Val2579=)
|
rs114975624
|
0.00971
|
NM_001100.4(ACTA1):c.453C>A (p.Thr151=)
|
rs76030344
|
0.00904
|
NM_018941.4(CLN8):c.685C>G (p.Pro229Ala)
|
rs150047904
|
0.00893
|
NM_000540.3(RYR1):c.10259+7G>A
|
rs143752962
|
0.00875
|
NM_000540.3(RYR1):c.12879G>C (p.Ala4293=)
|
rs193922854
|
0.00873
|
NM_152263.4(TPM3):c.*4062G>A
|
rs140590273
|
0.00864
|
NM_152263.4(TPM3):c.*5149G>A
|
rs78002555
|
0.00816
|
NM_000540.3(RYR1):c.13464G>A (p.Pro4488=)
|
rs10405232
|
0.00800
|
NM_000540.3(RYR1):c.12741C>T (p.Ala4247=)
|
rs80039127
|
0.00793
|
NM_000257.4(MYH7):c.4520-25C>T
|
rs45503601
|
0.00787
|
NM_000540.3(RYR1):c.906C>T (p.Asp302=)
|
rs145943283
|
0.00765
|
NM_000540.3(RYR1):c.7281C>T (p.Ala2427=)
|
rs77310009
|
0.00694
|
NM_000540.3(RYR1):c.6498C>T (p.Leu2166=)
|
rs151313865
|
0.00691
|
NM_000540.3(RYR1):c.4055C>G (p.Ala1352Gly)
|
rs112105381
|
0.00685
|
NM_000540.3(RYR1):c.3876C>A (p.Leu1292=)
|
rs143750836
|
0.00681
|
NM_000540.3(RYR1):c.14589C>T (p.Phe4863=)
|
rs146072491
|
0.00628
|
NM_000540.3(RYR1):c.3326G>A (p.Arg1109Lys)
|
rs35719391
|
0.00619
|
NM_000554.6(CRX):c.365G>A (p.Gly122Asp)
|
rs61748441
|
0.00614
|
NM_000540.3(RYR1):c.4719G>A (p.Pro1573=)
|
rs35480887
|
0.00607
|
NM_000540.3(RYR1):c.573C>T (p.Asp191=)
|
rs892054
|
0.00607
|
NM_000540.3(RYR1):c.13502C>T (p.Pro4501Leu)
|
rs73933023
|
0.00601
|
NM_000540.3(RYR1):c.6384C>T (p.Tyr2128=)
|
rs75181912
|
0.00599
|
NM_152263.4(TPM3):c.92A>C (p.Lys31Thr)
|
rs62000429
|
0.00596
|
NM_152263.4(TPM3):c.*2069C>T
|
rs140536164
|
0.00588
|
NM_000540.3(RYR1):c.4894C>T (p.Pro1632Ser)
|
rs76537615
|
0.00586
|
NM_000540.3(RYR1):c.-69T>G
|
rs886054377
|
0.00582
|
NM_152263.4(TPM3):c.*4154C>T
|
rs145053113
|
0.00572
|
NM_000540.3(RYR1):c.8068-14C>T
|
rs57376136
|
0.00554
|
NM_000540.3(RYR1):c.9771C>T (p.Ala3257=)
|
rs75991872
|
0.00545
|
NM_000540.3(RYR1):c.2241G>A (p.Leu747=)
|
rs34097444
|
0.00526
|
NM_000540.3(RYR1):c.5565C>T (p.Gly1855=)
|
rs61750975
|
0.00517
|
NM_000540.3(RYR1):c.10938-17A>G
|
rs181147531
|
0.00513
|
NM_152263.4(TPM3):c.566+18C>G
|
rs111368844
|
0.00505
|
NM_000540.3(RYR1):c.873G>A (p.Ala291=)
|
rs2229140
|
0.00484
|
NM_000540.3(RYR1):c.5634G>C (p.Glu1878Asp)
|
rs114203198
|
0.00479
|
NM_000540.3(RYR1):c.9414G>A (p.Pro3138=)
|
rs116130182
|
0.00478
|
NM_000540.3(RYR1):c.12881C>T (p.Thr4294Met)
|
rs587784372
|
0.00471
|
NM_000257.4(MYH7):c.3864C>G (p.Ser1288=)
|
rs45501694
|
0.00469
|
NM_000540.3(RYR1):c.9882C>T (p.Ser3294=)
|
rs142610625
|
0.00467
|
NM_152263.4(TPM3):c.*3497T>C
|
rs144544045
|
0.00465
|
NM_000540.3(RYR1):c.12588C>T (p.Ile4196=)
|
rs61739895
|
0.00460
|
NM_000540.3(RYR1):c.11034+20G>T
|
rs186460831
|
0.00456
|
NM_000257.4(MYH7):c.3972+16G>A
|
rs114978322
|
0.00424
|
NM_000540.3(RYR1):c.3972G>A (p.Ala1324=)
|
rs200451188
|
0.00422
|
NM_000540.3(RYR1):c.5493G>T (p.Gly1831=)
|
rs140004449
|
0.00422
|
NM_000540.3(RYR1):c.7209C>T (p.Arg2403=)
|
rs78795178
|
0.00417
|
NM_000540.3(RYR1):c.8949T>C (p.Ser2983=)
|
rs116537677
|
0.00415
|
NM_000540.3(RYR1):c.11941C>T (p.His3981Tyr)
|
rs148772854
|
0.00409
|
NM_000540.3(RYR1):c.1923C>G (p.Thr641=)
|
rs116591968
|
0.00404
|
NM_000540.3(RYR1):c.6732G>A (p.Arg2244=)
|
rs78915828
|
0.00390
|
NM_000540.3(RYR1):c.4071C>T (p.Pro1357=)
|
rs375709463
|
0.00354
|
NM_000540.3(RYR1):c.3042G>A (p.Ala1014=)
|
rs2228074
|
0.00351
|
NM_000540.3(RYR1):c.10941C>G (p.His3647Gln)
|
rs114351116
|
0.00347
|
NM_000540.3(RYR1):c.14505G>A (p.Gly4835=)
|
rs118126378
|
0.00334
|
NM_000540.3(RYR1):c.8827G>A (p.Asp2943Asn)
|
rs79294840
|
0.00325
|
NM_152263.4(TPM3):c.*878A>G
|
rs116789181
|
0.00321
|
NM_000540.3(RYR1):c.2415T>C (p.Pro805=)
|
rs141881325
|
0.00319
|
NM_000310.4(PPT1):c.363-4G>A
|
rs117284255
|
0.00318
|
NM_000540.3(RYR1):c.12956G>A (p.Arg4319Gln)
|
rs539194350
|
0.00306
|
NM_000540.3(RYR1):c.8360C>G (p.Thr2787Ser)
|
rs35180584
|
0.00291
|
NM_000540.3(RYR1):c.425-19A>G
|
rs193169917
|
0.00289
|
NM_152263.4(TPM3):c.*780A>G
|
rs185779007
|
0.00287
|
NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg)
|
rs137933390
|
0.00282
|
NM_000257.4(MYH7):c.2162+4G>A
|
rs145738465
|
0.00276
|
NM_000540.3(RYR1):c.8376G>A (p.Arg2792=)
|
rs150388417
|
0.00272
|
NM_020451.3(SELENON):c.1645G>A (p.Val549Met)
|
rs147131452
|
0.00268
|
NM_000257.4(MYH7):c.4239G>A (p.Ser1413=)
|
rs3729821
|
0.00267
|
NM_000540.3(RYR1):c.11360-9T>A
|
rs150187840
|
0.00260
|
NM_152263.4(TPM3):c.*5640C>T
|
rs564296987
|
0.00257
|
NM_000540.3(RYR1):c.4443C>T (p.Asn1481=)
|
rs141317474
|
0.00246
|
NM_000540.3(RYR1):c.14130-8C>G
|
rs140808099
|
0.00242
|
NM_152263.4(TPM3):c.*656C>T
|
rs12064261
|
0.00233
|
NM_000540.3(RYR1):c.216G>T (p.Leu72=)
|
rs113389877
|
0.00227
|
NM_000257.4(MYH7):c.297C>T (p.Pro99=)
|
rs140245862
|
0.00220
|
NM_000257.4(MYH7):c.3351G>A (p.Glu1117=)
|
rs45554236
|
0.00217
|
NM_000540.3(RYR1):c.958-11del
|
rs537751969
|
0.00211
|
NM_000540.3(RYR1):c.2121C>A (p.Gly707=)
|
rs146104858
|
0.00208
|
NM_000540.3(RYR1):c.9242T>C (p.Met3081Thr)
|
rs147012990
|
0.00207
|
NM_000540.3(RYR1):c.12283-7C>T
|
rs143861818
|
0.00206
|
NM_000540.3(RYR1):c.2677G>A (p.Gly893Ser)
|
rs147336515
|
0.00202
|
NM_000540.3(RYR1):c.271-7C>G
|
rs192495718
|
0.00197
|
NM_000540.3(RYR1):c.3557-6C>T
|
rs139849689
|
0.00196
|
NM_000540.3(RYR1):c.9353C>T (p.Ala3118Val)
|
rs2915960
|
0.00188
|
NM_000540.3(RYR1):c.297G>A (p.Thr99=)
|
rs144241486
|
0.00186
|
NM_000540.3(RYR1):c.9555-9G>A
|
rs149569999
|
0.00180
|
NM_152263.4(TPM3):c.*4876C>T
|
rs141628385
|
0.00178
|
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His)
|
rs143987857
|
0.00171
|
NM_152263.4(TPM3):c.*3819G>A
|
rs190553185
|
0.00168
|
NM_001100.4(ACTA1):c.*248G>A
|
rs551585351
|
0.00167
|
NM_000540.3(RYR1):c.4999C>T (p.Arg1667Cys)
|
rs144157950
|
0.00165
|
NM_000540.3(RYR1):c.12884C>T (p.Ala4295Val)
|
rs193922855
|
0.00163
|
NM_152263.4(TPM3):c.*4095G>A
|
rs559852699
|
0.00145
|
NM_000540.3(RYR1):c.*135C>T
|
rs188314477
|
0.00140
|
NM_000540.3(RYR1):c.11141+7A>G
|
rs78350770
|
0.00140
|
NM_000540.3(RYR1):c.2919C>T (p.His973=)
|
rs139363830
|
0.00140
|
NM_000540.3(RYR1):c.2797G>A (p.Ala933Thr)
|
rs148623597
|
0.00137
|
NM_152263.4(TPM3):c.*5440A>C
|
rs12064494
|
0.00136
|
NM_000540.3(RYR1):c.7615-7G>A
|
rs146159174
|
0.00133
|
NM_152263.4(TPM3):c.*5577C>T
|
rs886045287
|
0.00129
|
NM_000540.3(RYR1):c.7923C>G (p.Leu2641=)
|
rs142558977
|
0.00126
|
NM_020451.3(SELENON):c.1715C>A (p.Thr572Asn)
|
rs183272965
|
0.00124
|
NM_000540.3(RYR1):c.-102C>T
|
rs190259953
|
0.00121
|
NM_000540.3(RYR1):c.9355C>T (p.Arg3119Cys)
|
rs61739911
|
0.00113
|
NM_000540.3(RYR1):c.725+6G>A
|
rs201679831
|
0.00111
|
NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys)
|
rs147136339
|
0.00108
|
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val)
|
rs146429605
|
0.00107
|
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser)
|
rs147213895
|
0.00104
|
NM_000540.3(RYR1):c.5036G>A (p.Arg1679His)
|
rs146504767
|
0.00101
|
NM_000257.4(MYH7):c.4806C>T (p.Asp1602=)
|
rs142034311
|
0.00098
|
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr)
|
rs145532615
|
0.00095
|
NM_152263.4(TPM3):c.*4806A>C
|
rs186291812
|
0.00093
|
NM_000540.3(RYR1):c.7836-19C>T
|
rs201378267
|
0.00090
|
NM_000540.3(RYR1):c.14130-9T>G
|
rs191894192
|
0.00088
|
NM_000540.3(RYR1):c.8327C>T (p.Ser2776Phe)
|
rs147707463
|
0.00085
|
NM_000257.4(MYH7):c.1395C>T (p.Phe465=)
|
rs45508293
|
0.00082
|
NM_000540.3(RYR1):c.7536C>T (p.Ile2512=)
|
rs368560744
|
0.00080
|
NM_000540.3(RYR1):c.10119G>A (p.Val3373=)
|
rs140689610
|
0.00079
|
NM_000540.3(RYR1):c.4971C>T (p.Asp1657=)
|
rs141107290
|
0.00078
|
NM_000540.3(RYR1):c.2545G>A (p.Asp849Asn)
|
rs200893443
|
0.00074
|
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His)
|
rs137932199
|
0.00073
|
NM_001100.4(ACTA1):c.132C>T (p.Gly44=)
|
rs146956806
|
0.00066
|
NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn)
|
rs138874610
|
0.00065
|
NM_152263.4(TPM3):c.*2152C>T
|
rs1363684144
|
0.00065
|
NM_000257.4(MYH7):c.4005G>A (p.Ser1335=)
|
rs144465613
|
0.00064
|
NM_000540.3(RYR1):c.11321C>T (p.Ala3774Val)
|
rs146361173
|
0.00061
|
NM_000540.3(RYR1):c.443C>T (p.Thr148Ile)
|
rs151325948
|
0.00061
|
NM_152263.4(TPM3):c.*3756C>A
|
rs555633635
|
0.00060
|
NM_000540.3(RYR1):c.13022C>T (p.Thr4341Met)
|
rs752855919
|
0.00058
|
NM_000540.3(RYR1):c.2682+7G>A
|
rs201498416
|
0.00058
|
NM_000540.3(RYR1):c.6961A>G (p.Ile2321Val)
|
rs34390345
|
0.00058
|
NM_000540.3(RYR1):c.14070G>A (p.Thr4690=)
|
rs113058779
|
0.00057
|
NM_000540.3(RYR1):c.2091C>T (p.Ala697=)
|
rs138704724
|
0.00057
|
NM_152263.4(TPM3):c.*999G>A
|
rs565913061
|
0.00057
|
NM_020451.3(SELENON):c.415G>A (p.Ala139Thr)
|
rs201692549
|
0.00054
|
NM_000540.3(RYR1):c.12880A>G (p.Thr4294Ala)
|
rs1003914966
|
0.00053
|
NM_000257.4(MYH7):c.3036C>T (p.Ala1012=)
|
rs145379951
|
0.00050
|
NM_001100.4(ACTA1):c.1125A>G (p.Lys375=)
|
rs142311664
|
0.00050
|
NM_000540.3(RYR1):c.4074G>A (p.Gly1358=)
|
rs372178862
|
0.00049
|
NM_000540.3(RYR1):c.9261C>T (p.Ile3087=)
|
rs56338790
|
0.00049
|
NM_152263.4(TPM3):c.*157C>T
|
rs144482403
|
0.00047
|
NM_152263.4(TPM3):c.*4302A>G
|
rs886045298
|
0.00047
|
NM_000540.3(RYR1):c.9262G>A (p.Val3088Met)
|
rs145044872
|
0.00046
|
NM_152263.4(TPM3):c.*1077A>C
|
rs557217738
|
0.00045
|
NM_000540.3(RYR1):c.3111C>T (p.Ser1037=)
|
rs145434723
|
0.00043
|
NM_000540.3(RYR1):c.6645C>T (p.Leu2215=)
|
rs146617004
|
0.00043
|
NM_000540.3(RYR1):c.12842G>A (p.Gly4281Glu)
|
rs754173025
|
0.00039
|
NM_000540.3(RYR1):c.9635A>G (p.Glu3212Gly)
|
rs199738299
|
0.00038
|
NM_000540.3(RYR1):c.12553G>A (p.Ala4185Thr)
|
rs151119428
|
0.00037
|
NM_000540.3(RYR1):c.11439+9G>A
|
rs369650355
|
0.00036
|
NM_020451.3(SELENON):c.1654G>A (p.Glu552Lys)
|
rs200128474
|
0.00036
|
NM_000540.3(RYR1):c.12886C>T (p.Arg4296Trp)
|
rs995399684
|
0.00035
|
NM_152263.4(TPM3):c.*6097G>T
|
rs576691614
|
0.00035
|
NM_000540.3(RYR1):c.10938-9C>T
|
rs201976186
|
0.00034
|
NM_001100.4(ACTA1):c.786G>C (p.Thr262=)
|
rs141030526
|
0.00034
|
NM_000540.3(RYR1):c.1453A>G (p.Met485Val)
|
rs147723844
|
0.00033
|
NM_000540.3(RYR1):c.7788C>T (p.Thr2596=)
|
rs199636890
|
0.00032
|
NM_000540.3(RYR1):c.5317C>T (p.Pro1773Ser)
|
rs192863857
|
0.00031
|
NM_000540.3(RYR1):c.6127+3A>G
|
rs78851466
|
0.00031
|
NM_000540.3(RYR1):c.7876C>T (p.Leu2626=)
|
rs145446438
|
0.00031
|
NM_000540.3(RYR1):c.7976C>T (p.Thr2659Met)
|
rs138325444
|
0.00031
|
NM_000540.3(RYR1):c.8616+7G>A
|
rs200023171
|
0.00031
|
NM_152263.4(TPM3):c.*2138T>C
|
rs566002553
|
0.00031
|
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser)
|
rs121908188
|
0.00030
|
NM_000540.3(RYR1):c.1598G>A (p.Arg533His)
|
rs144336148
|
0.00029
|
NM_000540.3(RYR1):c.3381C>T (p.Arg1127=)
|
rs200780880
|
0.00029
|
NM_020451.3(SELENON):c.4G>T (p.Gly2Cys)
|
rs982364753
|
0.00028
|
NM_001100.4(ACTA1):c.549G>A (p.Ala183=)
|
rs200094415
|
0.00027
|
NM_000540.3(RYR1):c.2383C>T (p.Arg795Cys)
|
rs547608972
|
0.00026
|
NM_000540.3(RYR1):c.4115C>T (p.Ala1372Val)
|
rs370966353
|
0.00026
|
NM_000540.3(RYR1):c.7102C>G (p.Leu2368Val)
|
rs139498212
|
0.00026
|
NM_000540.3(RYR1):c.6478G>A (p.Gly2160Ser)
|
rs143398211
|
0.00025
|
NM_152263.4(TPM3):c.*4443G>T
|
rs139123540
|
0.00025
|
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn)
|
rs201307101
|
0.00024
|
NM_000540.3(RYR1):c.7026C>T (p.Asn2342=)
|
rs202061237
|
0.00024
|
NM_000540.3(RYR1):c.13477C>G (p.Pro4493Ala)
|
rs149455643
|
0.00023
|
NM_000540.3(RYR1):c.3555C>T (p.Asp1185=)
|
rs377282283
|
0.00022
|
NM_000540.3(RYR1):c.5000G>A (p.Arg1667His)
|
rs138978909
|
0.00022
|
NM_000540.3(RYR1):c.6639C>T (p.Asn2213=)
|
rs374630822
|
0.00022
|
NM_000257.4(MYH7):c.5656-9C>T
|
rs781212482
|
0.00021
|
NM_000257.4(MYH7):c.77C>T (p.Ala26Val)
|
rs186964570
|
0.00021
|
NM_000540.3(RYR1):c.2645C>T (p.Ala882Val)
|
rs143701391
|
0.00021
|
NM_152263.4(TPM3):c.*962C>T
|
rs564047493
|
0.00021
|
NM_000257.4(MYH7):c.5283+19C>T
|
rs45582836
|
0.00020
|
NM_000540.3(RYR1):c.2822C>T (p.Ala941Val)
|
rs748568687
|
0.00020
|
NM_020451.3(SELENON):c.103G>C (p.Gly35Arg)
|
rs398124359
|
0.00020
|
NM_152263.4(TPM3):c.804C>T (p.Tyr268=)
|
rs762511246
|
0.00020
|
NM_000540.3(RYR1):c.11034+15G>A
|
rs552725260
|
0.00019
|
NM_000540.3(RYR1):c.1123-11C>T
|
rs3745845
|
0.00019
|
NM_000540.3(RYR1):c.2160C>G (p.Leu720=)
|
rs200914778
|
0.00019
|
NM_000540.3(RYR1):c.2320G>A (p.Gly774Arg)
|
rs147918857
|
0.00019
|
NM_000540.3(RYR1):c.89A>T (p.Glu30Val)
|
rs145771708
|
0.00019
|
NM_152263.4(TPM3):c.*5755A>G
|
rs777522493
|
0.00019
|
NM_152263.4(TPM3):c.249G>A (p.Glu83=)
|
rs149765446
|
0.00019
|
NM_000540.3(RYR1):c.4292C>T (p.Thr1431Met)
|
rs191656849
|
0.00018
|
NM_000540.3(RYR1):c.4294-4C>T
|
rs368108496
|
0.00018
|
NM_000540.3(RYR1):c.4911G>A (p.Ala1637=)
|
rs370350821
|
0.00018
|
NM_000540.3(RYR1):c.7881G>A (p.Val2627=)
|
rs201877620
|
0.00018
|
NM_152263.4(TPM3):c.*5701C>T
|
rs373631033
|
0.00018
|
NM_000540.3(RYR1):c.2319C>T (p.Asp773=)
|
rs374924686
|
0.00016
|
NM_000540.3(RYR1):c.4237G>A (p.Asp1413Asn)
|
rs139142846
|
0.00016
|
NM_000540.3(RYR1):c.4257C>T (p.Asn1419=)
|
rs36042816
|
0.00016
|
NM_000540.3(RYR1):c.4847C>T (p.Thr1616Met)
|
rs776194441
|
0.00016
|
NM_000540.3(RYR1):c.6654C>T (p.Gly2218=)
|
rs149185729
|
0.00016
|
NM_000540.3(RYR1):c.8505A>T (p.Glu2835Asp)
|
rs144777676
|
0.00016
|
NM_000540.3(RYR1):c.9713A>G (p.Glu3238Gly)
|
rs200950673
|
0.00016
|
NM_152263.4(TPM3):c.665A>T (p.Tyr222Phe)
|
rs142817656
|
0.00016
|
NM_000243.3(MEFV):c.1261-28A>G
|
rs104895140
|
0.00015
|
NM_000540.3(RYR1):c.2531G>A (p.Cys844Tyr)
|
rs146754847
|
0.00015
|
NM_000540.3(RYR1):c.2767A>G (p.Met923Val)
|
rs149913097
|
0.00015
|
NM_000540.3(RYR1):c.3924G>C (p.Pro1308=)
|
rs144350050
|
0.00015
|
NM_000540.3(RYR1):c.7902C>A (p.Asn2634Lys)
|
rs148041292
|
0.00015
|
NM_152263.4(TPM3):c.*5658G>A
|
rs547577437
|
0.00015
|
NM_000257.4(MYH7):c.4170-8C>A
|
rs199632504
|
0.00014
|
NM_000540.3(RYR1):c.10048C>A (p.Arg3350=)
|
rs200355885
|
0.00014
|
NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp)
|
rs147320363
|
0.00014
|
NM_000540.3(RYR1):c.2676C>T (p.Tyr892=)
|
rs375402078
|
0.00014
|
NM_000540.3(RYR1):c.3095G>A (p.Arg1032His)
|
rs141942845
|
0.00014
|
NM_000540.3(RYR1):c.641C>T (p.Thr214Met)
|
rs727504129
|
0.00014
|
NM_000540.3(RYR1):c.8442G>A (p.Lys2814=)
|
rs771306571
|
0.00014
|
NM_000540.3(RYR1):c.9148G>A (p.Val3050Ile)
|
rs200797340
|
0.00014
|
NM_000540.3(RYR1):c.9634G>A (p.Glu3212Lys)
|
rs185371036
|
0.00014
|
NM_152263.4(TPM3):c.*482C>T
|
rs886045313
|
0.00014
|
NM_000540.3(RYR1):c.11517C>T (p.Ser3839=)
|
rs151239950
|
0.00013
|
NM_000540.3(RYR1):c.14270G>A (p.Arg4757His)
|
rs768360593
|
0.00013
|
NM_000540.3(RYR1):c.2223C>T (p.Asp741=)
|
rs150831055
|
0.00013
|
NM_000540.3(RYR1):c.2654G>A (p.Arg885His)
|
rs370634440
|
0.00013
|
NM_000540.3(RYR1):c.2687G>A (p.Arg896Gln)
|
rs147515913
|
0.00013
|
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter)
|
rs200563280
|
0.00013
|
NM_000540.3(RYR1):c.8079G>A (p.Pro2693=)
|
rs368063600
|
0.00013
|
NM_000540.3(RYR1):c.9152G>A (p.Arg3051His)
|
rs147303895
|
0.00013
|
NM_000540.3(RYR1):c.9466G>A (p.Val3156Ile)
|
rs150230127
|
0.00013
|
NM_000540.3(RYR1):c.9555G>C (p.Lys3185Asn)
|
rs201080180
|
0.00013
|
NM_000540.3(RYR1):c.7904A>T (p.Glu2635Val)
|
rs755651622
|
0.00012
|
NM_152263.4(TPM3):c.*1661C>T
|
rs575927755
|
0.00012
|
NM_000257.4(MYH7):c.3982G>A (p.Ala1328Thr)
|
rs372727092
|
0.00011
|
NM_000257.4(MYH7):c.5656-4G>A
|
rs397516250
|
0.00011
|
NM_000540.3(RYR1):c.14196C>A (p.Ile4732=)
|
rs201670423
|
0.00011
|
NM_000540.3(RYR1):c.14524G>A (p.Val4842Met)
|
rs193922879
|
0.00011
|
NM_000540.3(RYR1):c.14606A>C (p.Asp4869Ala)
|
rs781367427
|
0.00011
|
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys)
|
rs118192172
|
0.00011
|
NM_000540.3(RYR1):c.6600G>A (p.Ala2200=)
|
rs375640581
|
0.00011
|
NM_152263.4(TPM3):c.*32C>T
|
rs141699072
|
0.00011
|
NM_000257.4(MYH7):c.976G>C (p.Ala326Pro)
|
rs372731424
|
0.00010
|
NM_000540.3(RYR1):c.10348-6C>G
|
rs193922837
|
0.00010
|
NM_000540.3(RYR1):c.11599C>T (p.Arg3867Cys)
|
rs138593495
|
0.00010
|
NM_000540.3(RYR1):c.14670G>C (p.Val4890=)
|
rs773080803
|
0.00010
|
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp)
|
rs200546266
|
0.00010
|
NM_000540.3(RYR1):c.4758G>A (p.Pro1586=)
|
rs374222028
|
0.00010
|
NM_000540.3(RYR1):c.7261G>T (p.Ala2421Ser)
|
rs193922808
|
0.00010
|
NM_152263.4(TPM3):c.*3481C>T
|
rs753333464
|
0.00010
|
NM_000257.4(MYH7):c.2606G>A (p.Arg869His)
|
rs202141173
|
0.00009
|
NM_000257.4(MYH7):c.4423C>T (p.Arg1475Cys)
|
rs139646545
|
0.00009
|
NM_000257.4(MYH7):c.5287G>A (p.Ala1763Thr)
|
rs727504355
|
0.00009
|
NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr)
|
rs200939753
|
0.00009
|
NM_000257.4(MYH7):c.5559+5G>A
|
rs371177871
|
0.00009
|
NM_000540.3(RYR1):c.10042C>T (p.Arg3348Cys)
|
rs118204421
|
0.00009
|
NM_000540.3(RYR1):c.10824+8G>A
|
rs374325589
|
0.00009
|
NM_000540.3(RYR1):c.1105G>A (p.Gly369Ser)
|
rs570010656
|
0.00009
|
NM_000540.3(RYR1):c.13480G>A (p.Glu4494Lys)
|
rs143849895
|
0.00009
|
NM_000540.3(RYR1):c.15015G>A (p.Thr5005=)
|
rs2229149
|
0.00009
|
NM_000540.3(RYR1):c.1593C>T (p.Gly531=)
|
rs927675372
|
0.00009
|
NM_000540.3(RYR1):c.4763C>T (p.Pro1588Leu)
|
rs151029675
|
0.00009
|
NM_000540.3(RYR1):c.4910C>T (p.Ala1637Val)
|
rs569890286
|
0.00009
|
NM_000540.3(RYR1):c.5321C>T (p.Pro1774Leu)
|
rs199837883
|
0.00009
|
NM_000540.3(RYR1):c.6549-9C>T
|
rs370994573
|
0.00009
|
NM_001100.4(ACTA1):c.867C>T (p.Ile289=)
|
rs140074813
|
0.00009
|
NM_152263.4(TPM3):c.*2015T>C
|
rs758111582
|
0.00009
|
NM_152263.4(TPM3):c.*5795C>T
|
rs981377315
|
0.00009
|
NM_000540.3(RYR1):c.10648C>T (p.Arg3550Trp)
|
rs536304635
|
0.00008
|
NM_000540.3(RYR1):c.11412C>T (p.Leu3804=)
|
rs376851030
|
0.00008
|
NM_000540.3(RYR1):c.12345A>C (p.Glu4115Asp)
|
rs148923077
|
0.00008
|
NM_000540.3(RYR1):c.13927G>A (p.Ala4643Thr)
|
rs200286252
|
0.00008
|
NM_000540.3(RYR1):c.2712G>A (p.Pro904=)
|
rs139339574
|
0.00008
|
NM_000540.3(RYR1):c.4747C>T (p.Arg1583Cys)
|
rs754476250
|
0.00008
|
NM_000540.3(RYR1):c.8310+10A>G
|
rs372730488
|
0.00008
|
NM_000540.3(RYR1):c.8715G>C (p.Leu2905=)
|
rs368684717
|
0.00008
|
NM_000540.3(RYR1):c.9093C>T (p.Ala3031=)
|
rs140197877
|
0.00008
|
NM_152263.4(TPM3):c.*4924C>T
|
rs1036320708
|
0.00008
|
NM_152263.4(TPM3):c.*5500C>G
|
rs973966350
|
0.00008
|
NM_000540.3(RYR1):c.10260-12C>T
|
rs779541890
|
0.00007
|
NM_000540.3(RYR1):c.10476A>G (p.Glu3492=)
|
rs767496164
|
0.00007
|
NM_000540.3(RYR1):c.11260-13C>T
|
rs540088883
|
0.00007
|
NM_000540.3(RYR1):c.12629A>G (p.Lys4210Arg)
|
rs138932463
|
0.00007
|
NM_000540.3(RYR1):c.1286C>T (p.Pro429Leu)
|
rs201054455
|
0.00007
|
NM_000540.3(RYR1):c.12888G>C (p.Arg4296=)
|
rs571850239
|
0.00007
|
NM_000540.3(RYR1):c.1475G>A (p.Arg492His)
|
rs901087791
|
0.00007
|
NM_000540.3(RYR1):c.2681C>T (p.Pro894Leu)
|
rs758631999
|
0.00007
|
NM_000540.3(RYR1):c.2812G>A (p.Val938Met)
|
rs369182023
|
0.00007
|
NM_000540.3(RYR1):c.3311C>T (p.Ala1104Val)
|
rs149096607
|
0.00007
|
NM_000540.3(RYR1):c.3495C>T (p.Gly1165=)
|
rs772616442
|
0.00007
|
NM_000540.3(RYR1):c.5637C>T (p.Asp1879=)
|
rs143418190
|
0.00007
|
NM_000540.3(RYR1):c.7028-8G>A
|
rs147390699
|
0.00007
|
NM_000540.3(RYR1):c.8342T>C (p.Ile2781Thr)
|
rs767805554
|
0.00007
|
NM_000540.3(RYR1):c.8904C>A (p.Asp2968Glu)
|
rs759530203
|
0.00007
|
NM_000540.3(RYR1):c.9800C>T (p.Pro3267Leu)
|
rs200375946
|
0.00007
|
NM_000257.4(MYH7):c.1060G>A (p.Gly354Ser)
|
rs727503270
|
0.00006
|
NM_000257.4(MYH7):c.1322C>T (p.Thr441Met)
|
rs121913653
|
0.00006
|
NM_000257.4(MYH7):c.4283T>C (p.Leu1428Ser)
|
rs727503244
|
0.00006
|
NM_000257.4(MYH7):c.5326A>G (p.Ser1776Gly)
|
rs369437262
|
0.00006
|
NM_000540.3(RYR1):c.10219G>A (p.Ala3407Thr)
|
rs143533100
|
0.00006
|
NM_000540.3(RYR1):c.10274C>T (p.Thr3425Met)
|
rs150977342
|
0.00006
|
NM_000540.3(RYR1):c.10280C>T (p.Pro3427Leu)
|
rs775773632
|
0.00006
|
NM_000540.3(RYR1):c.10347C>T (p.His3449=)
|
rs373702420
|
0.00006
|
NM_000540.3(RYR1):c.10442C>T (p.Ala3481Val)
|
rs370630840
|
0.00006
|
NM_000540.3(RYR1):c.10492C>G (p.Arg3498Gly)
|
rs201358408
|
0.00006
|
NM_000540.3(RYR1):c.10601C>T (p.Thr3534Met)
|
rs146914779
|
0.00006
|
NM_000540.3(RYR1):c.10803C>T (p.Ala3601=)
|
rs141542477
|
0.00006
|
NM_000540.3(RYR1):c.10938-11C>T
|
rs760754746
|
0.00006
|
NM_000540.3(RYR1):c.10938-12T>A
|
rs767711818
|
0.00006
|
NM_000540.3(RYR1):c.1172G>A (p.Arg391His)
|
rs769387053
|
0.00006
|
NM_000540.3(RYR1):c.12398A>G (p.Glu4133Gly)
|
rs201321695
|
0.00006
|
NM_000540.3(RYR1):c.12560G>A (p.Arg4187His)
|
rs767099429
|
0.00006
|
NM_000540.3(RYR1):c.13350G>A (p.Gly4450=)
|
rs748743312
|
0.00006
|
NM_000540.3(RYR1):c.14203C>T (p.Arg4735Trp)
|
rs766887342
|
0.00006
|
NM_000540.3(RYR1):c.1479A>C (p.Leu493=)
|
rs748552245
|
0.00006
|
NM_000540.3(RYR1):c.14901C>G (p.Asp4967Glu)
|
rs201712715
|
0.00006
|
NM_000540.3(RYR1):c.14915C>T (p.Thr4972Ile)
|
rs199866740
|
0.00006
|
NM_000540.3(RYR1):c.152C>A (p.Thr51Asn)
|
rs193922749
|
0.00006
|
NM_000540.3(RYR1):c.2356G>A (p.Val786Ile)
|
rs369281291
|
0.00006
|
NM_000540.3(RYR1):c.2594A>T (p.His865Leu)
|
rs371862065
|
0.00006
|
NM_000540.3(RYR1):c.2603G>A (p.Arg868His)
|
rs750938678
|
0.00006
|
NM_000540.3(RYR1):c.2711C>T (p.Pro904Leu)
|
rs544742812
|
0.00006
|
NM_000540.3(RYR1):c.2844C>T (p.Asn948=)
|
rs761045773
|
0.00006
|
NM_000540.3(RYR1):c.2998G>A (p.Val1000Met)
|
rs138209392
|
0.00006
|
NM_000540.3(RYR1):c.3389G>A (p.Arg1130His)
|
rs371498385
|
0.00006
|
NM_000540.3(RYR1):c.3619G>A (p.Val1207Met)
|
rs760235443
|
0.00006
|
NM_000540.3(RYR1):c.4038C>A (p.Asn1346Lys)
|
rs777049924
|
0.00006
|
NM_000540.3(RYR1):c.4620+13C>T
|
rs201971363
|
0.00006
|
NM_000540.3(RYR1):c.5384C>T (p.Pro1795Leu)
|
rs141379562
|
0.00006
|
NM_000540.3(RYR1):c.5385G>C (p.Pro1795=)
|
rs772422894
|
0.00006
|
NM_000540.3(RYR1):c.5921G>A (p.Arg1974Gln)
|
rs748907487
|
0.00006
|
NM_000540.3(RYR1):c.6302T>A (p.Met2101Lys)
|
rs746818096
|
0.00006
|
NM_000540.3(RYR1):c.6640G>A (p.Val2214Ile)
|
rs193922795
|
0.00006
|
NM_000540.3(RYR1):c.6891+3G>T
|
rs373333757
|
0.00006
|
NM_000540.3(RYR1):c.7092C>T (p.Phe2364=)
|
rs369456396
|
0.00006
|
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg)
|
rs121918593
|
0.00006
|
NM_000540.3(RYR1):c.7336G>A (p.Gly2446Ser)
|
rs375148516
|
0.00006
|
NM_000540.3(RYR1):c.7344T>C (p.Gly2448=)
|
rs199813873
|
0.00006
|
NM_000540.3(RYR1):c.7560C>T (p.His2520=)
|
rs749322590
|
0.00006
|
NM_000540.3(RYR1):c.8450T>C (p.Ile2817Thr)
|
rs369194674
|
0.00006
|
NM_000540.3(RYR1):c.8516C>T (p.Thr2839Met)
|
rs781458272
|
0.00006
|
NM_000540.3(RYR1):c.9472C>T (p.Leu3158=)
|
rs770942162
|
0.00006
|
NM_000540.3(RYR1):c.9555-10C>T
|
rs774666035
|
0.00006
|
NM_000540.3(RYR1):c.9579C>G (p.Cys3193Trp)
|
rs587784379
|
0.00006
|
NM_000540.3(RYR1):c.9731C>T (p.Pro3244Leu)
|
rs966321446
|
0.00006
|
NM_000540.3(RYR1):c.9758T>C (p.Ile3253Thr)
|
rs375626634
|
0.00006
|
NM_000540.3(RYR1):c.9772G>A (p.Glu3258Lys)
|
rs754431075
|
0.00006
|
NM_152263.4(TPM3):c.*1291A>G
|
rs375670563
|
0.00006
|
NM_152263.4(TPM3):c.*1967C>T
|
rs910205963
|
0.00006
|
NM_152263.4(TPM3):c.144G>A (p.Gln48=)
|
rs765923858
|
0.00006
|
NM_152263.4(TPM3):c.60G>A (p.Leu20=)
|
rs770751758
|
0.00006
|
NM_000257.4(MYH7):c.1988G>A (p.Arg663His)
|
rs371898076
|
0.00005
|
NM_000257.4(MYH7):c.4010G>A (p.Arg1337Gln)
|
rs368575559
|
0.00005
|
NM_000257.4(MYH7):c.4294G>A (p.Val1432Ile)
|
rs144200285
|
0.00005
|
NM_000257.4(MYH7):c.67C>T (p.Arg23Trp)
|
rs730880828
|
0.00005
|
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly)
|
rs367543058
|
0.00005
|
NM_000540.3(RYR1):c.10359C>T (p.Arg3453=)
|
rs376830015
|
0.00005
|
NM_000540.3(RYR1):c.11269A>G (p.Met3757Val)
|
rs189249768
|
0.00005
|
NM_000540.3(RYR1):c.14283G>A (p.Pro4761=)
|
rs201157293
|
0.00005
|
NM_000540.3(RYR1):c.14344G>A (p.Gly4782Arg)
|
rs746538672
|
0.00005
|
NM_000540.3(RYR1):c.14563G>T (p.Val4855Leu)
|
rs528225943
|
0.00005
|
NM_000540.3(RYR1):c.14602G>A (p.Glu4868Lys)
|
rs187569997
|
0.00005
|
NM_000540.3(RYR1):c.1956G>A (p.Ala652=)
|
rs202105428
|
0.00005
|
NM_000540.3(RYR1):c.2269C>T (p.Arg757Cys)
|
rs890373465
|
0.00005
|
NM_000540.3(RYR1):c.2500C>T (p.Arg834Trp)
|
rs140686309
|
0.00005
|
NM_000540.3(RYR1):c.2835G>A (p.Ala945=)
|
rs576990255
|
0.00005
|
NM_000540.3(RYR1):c.2996G>A (p.Arg999His)
|
rs180714609
|
0.00005
|
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp)
|
rs118192173
|
0.00005
|
NM_000540.3(RYR1):c.3352G>A (p.Glu1118Lys)
|
rs578234912
|
0.00005
|
NM_000540.3(RYR1):c.3379C>T (p.Arg1127Cys)
|
rs753701890
|
0.00005
|
NM_000540.3(RYR1):c.3442G>A (p.Val1148Ile)
|
rs201174268
|
0.00005
|
NM_000540.3(RYR1):c.4236C>G (p.His1412Gln)
|
rs146206507
|
0.00005
|
NM_000540.3(RYR1):c.4306G>A (p.Val1436Met)
|
rs200289457
|
0.00005
|
NM_000540.3(RYR1):c.4931A>G (p.Asn1644Ser)
|
rs1057519109
|
0.00005
|
NM_000540.3(RYR1):c.6651C>T (p.Gly2217=)
|
rs371006370
|
0.00005
|
NM_000540.3(RYR1):c.6910G>A (p.Gly2304Ser)
|
rs377080876
|
0.00005
|
NM_000540.3(RYR1):c.7153C>T (p.Arg2385Cys)
|
rs202111332
|
0.00005
|
NM_000540.3(RYR1):c.767G>A (p.Arg256His)
|
rs772767943
|
0.00005
|
NM_000540.3(RYR1):c.7699C>T (p.Pro2567Ser)
|
rs374982449
|
0.00005
|
NM_000540.3(RYR1):c.7844G>A (p.Arg2615His)
|
rs145183043
|
0.00005
|
NM_000540.3(RYR1):c.7854G>A (p.Met2618Ile)
|
rs775112172
|
0.00005
|
NM_000540.3(RYR1):c.8162C>T (p.Ser2721Phe)
|
rs781377124
|
0.00005
|
NM_000540.3(RYR1):c.9555-4C>T
|
rs1417337927
|
0.00005
|
NM_020451.3(SELENON):c.1A>G (p.Met1Val)
|
rs121908184
|
0.00005
|
NM_152263.4(TPM3):c.*2298T>C
|
rs201157203
|
0.00005
|
NM_152263.4(TPM3):c.*974C>T
|
rs534731616
|
0.00005
|
NM_152263.4(TPM3):c.327T>G (p.Thr109=)
|
rs764255899
|
0.00005
|
NM_000257.4(MYH7):c.211G>A (p.Val71Met)
|
rs730880830
|
0.00004
|
NM_000257.4(MYH7):c.3168G>C (p.Glu1056Asp)
|
rs747198710
|
0.00004
|
NM_000257.4(MYH7):c.4077C>T (p.Arg1359=)
|
rs45523835
|
0.00004
|
NM_000257.4(MYH7):c.4083T>G (p.Leu1361=)
|
rs754295295
|
0.00004
|
NM_000257.4(MYH7):c.4097C>T (p.Ser1366Leu)
|
rs767000995
|
0.00004
|
NM_000257.4(MYH7):c.4772T>A (p.Leu1591Gln)
|
rs730880808
|
0.00004
|
NM_000257.4(MYH7):c.4904T>C (p.Met1635Thr)
|
rs145822086
|
0.00004
|
NM_000257.4(MYH7):c.4954G>T (p.Asp1652Tyr)
|
rs397516233
|
0.00004
|
NM_000257.4(MYH7):c.5305C>A (p.Leu1769Met)
|
rs139222507
|
0.00004
|
NM_000257.4(MYH7):c.5459G>A (p.Arg1820Gln)
|
rs371855540
|
0.00004
|
NM_000257.4(MYH7):c.924C>T (p.Tyr308=)
|
rs762065412
|
0.00004
|
NM_000540.3(RYR1):c.10458C>T (p.Ser3486=)
|
rs770132934
|
0.00004
|
NM_000540.3(RYR1):c.10505G>A (p.Arg3502Gln)
|
rs369422480
|
0.00004
|
NM_000540.3(RYR1):c.10520C>T (p.Thr3507Met)
|
rs371839408
|
0.00004
|
NM_000540.3(RYR1):c.10577C>T (p.Ala3526Val)
|
rs374061380
|
0.00004
|
NM_000540.3(RYR1):c.11023G>C (p.Asp3675His)
|
rs145026307
|
0.00004
|
NM_000540.3(RYR1):c.11763C>A (p.Tyr3921Ter)
|
rs377178986
|
0.00004
|
NM_000540.3(RYR1):c.11778+3G>C
|
rs758215068
|
0.00004
|
NM_000540.3(RYR1):c.12028G>A (p.Glu4010Lys)
|
rs755088027
|
0.00004
|
NM_000540.3(RYR1):c.12210T>G (p.Ile4070Met)
|
rs765758001
|
0.00004
|
NM_000540.3(RYR1):c.12310G>A (p.Gly4104Ser)
|
rs769120898
|
0.00004
|
NM_000540.3(RYR1):c.12324G>C (p.Gln4108His)
|
rs762061959
|
0.00004
|
NM_000540.3(RYR1):c.1250T>C (p.Leu417Pro)
|
rs764262446
|
0.00004
|
NM_000540.3(RYR1):c.12813C>T (p.Gly4271=)
|
rs750757411
|
0.00004
|
NM_000540.3(RYR1):c.12823G>A (p.Ala4275Thr)
|
rs761125496
|
0.00004
|
NM_000540.3(RYR1):c.12910G>A (p.Ala4304Thr)
|
rs959143903
|
0.00004
|
NM_000540.3(RYR1):c.13242C>G (p.Asp4414Glu)
|
rs994374423
|
0.00004
|
NM_000540.3(RYR1):c.13465C>T (p.Pro4489Ser)
|
rs781766697
|
0.00004
|
NM_000540.3(RYR1):c.13934G>A (p.Arg4645Gln)
|
rs193922860
|
0.00004
|
NM_000540.3(RYR1):c.13998+3G>A
|
rs765404523
|
0.00004
|
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met)
|
rs118192140
|
0.00004
|
NM_000540.3(RYR1):c.14449A>G (p.Ile4817Val)
|
rs143988412
|
0.00004
|
NM_000540.3(RYR1):c.14468C>T (p.Thr4823Met)
|
rs148540135
|
0.00004
|
NM_000540.3(RYR1):c.14538G>C (p.Ala4846=)
|
rs763954439
|
0.00004
|
NM_000540.3(RYR1):c.1735G>A (p.Glu579Lys)
|
rs753907367
|
0.00004
|
NM_000540.3(RYR1):c.1768G>T (p.Asp590Tyr)
|
rs552148844
|
0.00004
|
NM_000540.3(RYR1):c.1955C>T (p.Ala652Val)
|
rs757908433
|
0.00004
|
NM_000540.3(RYR1):c.2074A>G (p.Thr692Ala)
|
rs763679528
|
0.00004
|
NM_000540.3(RYR1):c.2467G>C (p.Glu823Gln)
|
rs370490388
|
0.00004
|
NM_000540.3(RYR1):c.251C>T (p.Thr84Met)
|
rs186983396
|
0.00004
|
NM_000540.3(RYR1):c.2527C>T (p.Arg843Cys)
|
rs750233243
|
0.00004
|
NM_000540.3(RYR1):c.2653C>T (p.Arg885Cys)
|
rs775256033
|
0.00004
|
NM_000540.3(RYR1):c.2659G>A (p.Glu887Lys)
|
rs766827383
|
0.00004
|
NM_000540.3(RYR1):c.3021C>T (p.Ser1007=)
|
rs143891703
|
0.00004
|
NM_000540.3(RYR1):c.3043C>T (p.Arg1015Cys)
|
rs139006437
|
0.00004
|
NM_000540.3(RYR1):c.3208C>T (p.Arg1070Trp)
|
rs368950468
|
0.00004
|
NM_000540.3(RYR1):c.3380G>A (p.Arg1127His)
|
rs545579559
|
0.00004
|
NM_000540.3(RYR1):c.3548T>C (p.Ile1183Thr)
|
rs761386401
|
0.00004
|
NM_000540.3(RYR1):c.3567C>T (p.Pro1189=)
|
rs200161205
|
0.00004
|
NM_000540.3(RYR1):c.3568G>A (p.Val1190Ile)
|
rs749283427
|
0.00004
|
NM_000540.3(RYR1):c.3853A>G (p.Met1285Val)
|
rs752075589
|
0.00004
|
NM_000540.3(RYR1):c.4108G>A (p.Ala1370Thr)
|
rs766147636
|
0.00004
|
NM_000540.3(RYR1):c.4213C>A (p.Pro1405Thr)
|
rs376567445
|
0.00004
|
NM_000540.3(RYR1):c.4217C>T (p.Thr1406Met)
|
rs187496208
|
0.00004
|
NM_000540.3(RYR1):c.4270G>A (p.Glu1424Lys)
|
rs543630280
|
0.00004
|
NM_000540.3(RYR1):c.4759G>A (p.Ala1587Thr)
|
rs1030955858
|
0.00004
|
NM_000540.3(RYR1):c.4963C>T (p.Arg1655Cys)
|
rs371777056
|
0.00004
|
NM_000540.3(RYR1):c.5287C>T (p.Pro1763Ser)
|
rs202225176
|
0.00004
|
NM_000540.3(RYR1):c.5340_5341del (p.Cys1781fs)
|
rs779723153
|
0.00004
|
NM_000540.3(RYR1):c.6385G>A (p.Asp2129Asn)
|
rs772695891
|
0.00004
|
NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met)
|
rs118192177
|
0.00004
|
NM_000540.3(RYR1):c.6730C>T (p.Arg2244Trp)
|
rs772753793
|
0.00004
|
NM_000540.3(RYR1):c.7064G>A (p.Arg2355Gln)
|
rs144526634
|
0.00004
|
NM_000540.3(RYR1):c.721C>T (p.Arg241Cys)
|
rs751622747
|
0.00004
|
NM_000540.3(RYR1):c.7689C>G (p.Thr2563=)
|
rs781110591
|
0.00004
|
NM_000540.3(RYR1):c.872C>T (p.Ala291Val)
|
rs200572262
|
0.00004
|
NM_000540.3(RYR1):c.9091G>A (p.Ala3031Thr)
|
rs756311466
|
0.00004
|
NM_000540.3(RYR1):c.9477C>T (p.Asp3159=)
|
rs139409128
|
0.00004
|
NM_000540.3(RYR1):c.9640A>G (p.Asn3214Asp)
|
rs377541724
|
0.00004
|
NM_000540.3(RYR1):c.9859C>T (p.Arg3287Cys)
|
rs201276068
|
0.00004
|
NM_152263.4(TPM3):c.*2220T>C
|
rs886045306
|
0.00004
|
NM_152263.4(TPM3):c.*2544C>T
|
rs968828245
|
0.00004
|
NM_152263.4(TPM3):c.*2652C>T
|
rs555966358
|
0.00004
|
NM_152263.4(TPM3):c.*4203G>A
|
rs886045299
|
0.00004
|
NM_152263.4(TPM3):c.*4389G>T
|
rs886045297
|
0.00004
|
NM_152263.4(TPM3):c.*489T>G
|
rs886045312
|
0.00004
|
NM_152263.4(TPM3):c.*4930G>A
|
rs995544936
|
0.00004
|
NM_152263.4(TPM3):c.36G>A (p.Leu12=)
|
rs748116674
|
0.00004
|
NM_152263.4(TPM3):c.495+7G>C
|
rs749792884
|
0.00004
|
NM_000257.4(MYH7):c.1608G>A (p.Glu536=)
|
rs397516115
|
0.00003
|
NM_000257.4(MYH7):c.2081G>A (p.Arg694His)
|
rs886039030
|
0.00003
|
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)
|
rs3218716
|
0.00003
|
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys)
|
rs2754158
|
0.00003
|
NM_000257.4(MYH7):c.3100-2A>C
|
rs759013925
|
0.00003
|
NM_000257.4(MYH7):c.3779G>A (p.Arg1260Gln)
|
rs747308839
|
0.00003
|
NM_000257.4(MYH7):c.4894G>A (p.Ala1632Thr)
|
rs565663412
|
0.00003
|
NM_000257.4(MYH7):c.639+5G>T
|
rs765724983
|
0.00003
|
NM_000257.4(MYH7):c.895+12C>T
|
rs186276057
|
0.00003
|
NM_000540.3(RYR1):c.10053G>A (p.Pro3351=)
|
rs774096421
|
0.00003
|
NM_000540.3(RYR1):c.10578G>A (p.Ala3526=)
|
rs368360689
|
0.00003
|
NM_000540.3(RYR1):c.10619A>T (p.Tyr3540Phe)
|
rs752477271
|
0.00003
|
NM_000540.3(RYR1):c.10927A>C (p.Asn3643His)
|
rs924687841
|
0.00003
|
NM_000540.3(RYR1):c.11193+15C>G
|
rs370928637
|
0.00003
|
NM_000540.3(RYR1):c.12407G>A (p.Arg4136His)
|
rs572373150
|
0.00003
|
NM_000540.3(RYR1):c.12797G>A (p.Gly4266Asp)
|
rs1445617605
|
0.00003
|
NM_000540.3(RYR1):c.12840G>T (p.Ala4280=)
|
rs1292456827
|
0.00003
|
NM_000540.3(RYR1):c.12878C>T (p.Ala4293Val)
|
rs1223090052
|
0.00003
|
NM_000540.3(RYR1):c.13069C>A (p.Leu4357Met)
|
rs1236057233
|
0.00003
|
NM_000540.3(RYR1):c.13168G>C (p.Glu4390Gln)
|
rs1413644550
|
0.00003
|
NM_000540.3(RYR1):c.13207G>A (p.Ala4403Thr)
|
rs1051206491
|
0.00003
|
NM_000540.3(RYR1):c.13271A>C (p.Glu4424Ala)
|
rs752665367
|
0.00003
|
NM_000540.3(RYR1):c.13369A>T (p.Met4457Leu)
|
rs867851900
|
0.00003
|
NM_000540.3(RYR1):c.13505A>G (p.Glu4502Gly)
|
rs139647387
|
0.00003
|
NM_000540.3(RYR1):c.13691G>A (p.Arg4564Gln)
|
rs864309559
|
0.00003
|
NM_000540.3(RYR1):c.13774G>A (p.Asp4592Asn)
|
rs572103362
|
0.00003
|
NM_000540.3(RYR1):c.13932G>T (p.Leu4644=)
|
rs199698011
|
0.00003
|
NM_000540.3(RYR1):c.14717C>G (p.Ala4906Gly)
|
rs118192153
|
0.00003
|
NM_000540.3(RYR1):c.14928C>G (p.Phe4976Leu)
|
rs368874586
|
0.00003
|
NM_000540.3(RYR1):c.1589G>A (p.Arg530His)
|
rs111888148
|
0.00003
|
NM_000540.3(RYR1):c.1925+19G>A
|
rs764074598
|
0.00003
|
NM_000540.3(RYR1):c.2365C>T (p.Arg789Trp)
|
rs765445445
|
0.00003
|
NM_000540.3(RYR1):c.2450G>A (p.Arg817Gln)
|
rs759902314
|
0.00003
|
NM_000540.3(RYR1):c.2480A>T (p.Glu827Val)
|
rs758782788
|
0.00003
|
NM_000540.3(RYR1):c.2489G>A (p.Arg830Gln)
|
rs777191617
|
0.00003
|
NM_000540.3(RYR1):c.2551G>A (p.Val851Met)
|
rs375669412
|
0.00003
|
NM_000540.3(RYR1):c.2937G>A (p.Ala979=)
|
rs775442275
|
0.00003
|
NM_000540.3(RYR1):c.2995C>T (p.Arg999Cys)
|
rs150442096
|
0.00003
|
NM_000540.3(RYR1):c.3047G>A (p.Arg1016Gln)
|
rs373541911
|
0.00003
|
NM_000540.3(RYR1):c.3128G>A (p.Arg1043His)
|
rs374776563
|
0.00003
|
NM_000540.3(RYR1):c.3175C>T (p.Pro1059Ser)
|
rs558190898
|
0.00003
|
NM_000540.3(RYR1):c.370C>T (p.Arg124Cys)
|
rs765121148
|
0.00003
|
NM_000540.3(RYR1):c.3815C>T (p.Thr1272Ile)
|
rs750818753
|
0.00003
|
NM_000540.3(RYR1):c.4003C>T (p.Arg1335Cys)
|
rs767382534
|
0.00003
|
NM_000540.3(RYR1):c.4258C>T (p.Arg1420Cys)
|
rs760625346
|
0.00003
|
NM_000540.3(RYR1):c.4339G>A (p.Val1447Met)
|
rs370851779
|
0.00003
|
NM_000540.3(RYR1):c.4415C>T (p.Thr1472Met)
|
rs1318296270
|
0.00003
|
NM_000540.3(RYR1):c.4729G>A (p.Ala1577Thr)
|
rs118192120
|
0.00003
|
NM_000540.3(RYR1):c.537+13G>A
|
rs754569485
|
0.00003
|
NM_000540.3(RYR1):c.5891G>A (p.Arg1964His)
|
rs767487116
|
0.00003
|
NM_000540.3(RYR1):c.6050A>G (p.Asp2017Gly)
|
rs1302216965
|
0.00003
|
NM_000540.3(RYR1):c.6078G>A (p.Glu2026=)
|
rs201310026
|
0.00003
|
NM_000540.3(RYR1):c.6211C>T (p.Arg2071Trp)
|
rs147441124
|
0.00003
|
NM_000540.3(RYR1):c.6318C>A (p.Ala2106=)
|
rs769443054
|
0.00003
|
NM_000540.3(RYR1):c.6343G>A (p.Glu2115Lys)
|
rs147197176
|
0.00003
|
NM_000540.3(RYR1):c.6352C>T (p.Arg2118Trp)
|
rs148660840
|
0.00003
|
NM_000540.3(RYR1):c.6838G>T (p.Val2280Phe)
|
rs193922797
|
0.00003
|
NM_000540.3(RYR1):c.7093G>A (p.Gly2365Arg)
|
rs761224660
|
0.00003
|
NM_000540.3(RYR1):c.7099G>A (p.Ala2367Thr)
|
rs146306934
|
0.00003
|
NM_000540.3(RYR1):c.722G>A (p.Arg241His)
|
rs552007612
|
0.00003
|
NM_000540.3(RYR1):c.7613C>T (p.Thr2538Met)
|
rs575446156
|
0.00003
|
NM_000540.3(RYR1):c.7755C>T (p.Thr2585=)
|
rs768702294
|
0.00003
|
NM_000540.3(RYR1):c.7781C>T (p.Ser2594Leu)
|
rs749564145
|
0.00003
|
NM_000540.3(RYR1):c.8113G>A (p.Ala2705Thr)
|
rs536813036
|
0.00003
|
NM_000540.3(RYR1):c.821G>C (p.Arg274Pro)
|
rs368711923
|
0.00003
|
NM_000540.3(RYR1):c.825G>T (p.Trp275Cys)
|
rs138687891
|
0.00003
|
NM_000540.3(RYR1):c.8330A>T (p.Tyr2777Phe)
|
rs769276412
|
0.00003
|
NM_000540.3(RYR1):c.8416C>T (p.Arg2806Cys)
|
rs772769577
|
0.00003
|
NM_000540.3(RYR1):c.8686G>A (p.Ala2896Thr)
|
rs886054397
|
0.00003
|
NM_000540.3(RYR1):c.9457G>A (p.Gly3153Arg)
|
rs779410371
|
0.00003
|
NM_000540.3(RYR1):c.9586C>T (p.Arg3196Cys)
|
rs766362010
|
0.00003
|
NM_000540.3(RYR1):c.9847C>T (p.Arg3283Ter)
|
rs752199191
|
0.00003
|
NM_000540.3(RYR1):c.9860G>A (p.Arg3287His)
|
rs756487708
|
0.00003
|
NM_000540.3(RYR1):c.9874C>T (p.Pro3292Ser)
|
rs144135230
|
0.00003
|
NM_001100.4(ACTA1):c.435C>T (p.Tyr145=)
|
rs371410845
|
0.00003
|
NM_001100.4(ACTA1):c.782A>T (p.Glu261Val)
|
rs121909523
|
0.00003
|
NM_001100.4(ACTA1):c.809-14_809-13insA
|
rs749384329
|
0.00003
|
NM_152263.4(TPM3):c.*2101T>C
|
rs151275058
|
0.00003
|
NM_152263.4(TPM3):c.*2423G>A
|
rs1243423616
|
0.00003
|
NM_152263.4(TPM3):c.*303A>C
|
rs555108967
|
0.00003
|
NM_152263.4(TPM3):c.*406T>C
|
rs886045314
|
0.00003
|
NM_152263.4(TPM3):c.*4541T>A
|
rs886045294
|
0.00003
|
NM_152263.4(TPM3):c.*46C>T
|
rs777118586
|
0.00003
|
NM_152263.4(TPM3):c.*903C>T
|
rs545353984
|
0.00003
|
NM_152263.4(TPM3):c.706-8T>G
|
rs1273121877
|
0.00003
|
NM_152263.4(TPM3):c.831C>T (p.His277=)
|
rs781032589
|
0.00003
|
NM_000257.4(MYH7):c.1046T>C (p.Met349Thr)
|
rs121913640
|
0.00002
|
NM_000257.4(MYH7):c.1334C>T (p.Ala445Val)
|
rs752349938
|
0.00002
|
NM_000257.4(MYH7):c.1727A>G (p.His576Arg)
|
rs727504238
|
0.00002
|
NM_000257.4(MYH7):c.1913C>T (p.Ala638Val)
|
rs369935820
|
0.00002
|
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys)
|
rs121913630
|
0.00002
|
NM_000257.4(MYH7):c.3236G>A (p.Arg1079Gln)
|
rs727504342
|
0.00002
|
NM_000257.4(MYH7):c.4078G>A (p.Val1360Ile)
|
rs373231077
|
0.00002
|
NM_000257.4(MYH7):c.4641C>T (p.Ala1547=)
|
rs376854724
|
0.00002
|
NM_000257.4(MYH7):c.4831G>T (p.Ala1611Ser)
|
rs730880913
|
0.00002
|
NM_000257.4(MYH7):c.4916C>T (p.Ala1639Val)
|
rs1195157116
|
0.00002
|
NM_000257.4(MYH7):c.4953+14G>A
|
rs758571263
|
0.00002
|
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln)
|
rs193922390
|
0.00002
|
NM_000257.4(MYH7):c.5342G>A (p.Arg1781His)
|
rs397516246
|
0.00002
|
NM_000257.4(MYH7):c.5422G>A (p.Gly1808Ser)
|
rs369940645
|
0.00002
|
NM_000257.4(MYH7):c.5470A>G (p.Asn1824Asp)
|
rs769112519
|
0.00002
|
NM_000257.4(MYH7):c.925G>A (p.Asp309Asn)
|
rs730880923
|
0.00002
|
NM_000540.3(RYR1):c.-31C>T
|
rs375755030
|
0.00002
|
NM_000540.3(RYR1):c.10230G>A (p.Pro3410=)
|
rs774663618
|
0.00002
|
NM_000540.3(RYR1):c.10282A>G (p.Asn3428Asp)
|
rs763976533
|
0.00002
|
NM_000540.3(RYR1):c.10489A>C (p.Lys3497Gln)
|
rs754849970
|
0.00002
|
NM_000540.3(RYR1):c.10621G>A (p.Ala3541Thr)
|
rs376338203
|
0.00002
|
NM_000540.3(RYR1):c.11091C>T (p.Pro3697=)
|
rs201296563
|
0.00002
|
NM_000540.3(RYR1):c.11198G>A (p.Cys3733Tyr)
|
rs777478644
|
0.00002
|
NM_000540.3(RYR1):c.11302C>T (p.Arg3768Trp)
|
rs910313832
|
0.00002
|
NM_000540.3(RYR1):c.11314C>T (p.Arg3772Trp)
|
rs763112609
|
0.00002
|
NM_000540.3(RYR1):c.11385C>T (p.Ser3795=)
|
rs757745087
|
0.00002
|
NM_000540.3(RYR1):c.11600G>A (p.Arg3867His)
|
rs758651267
|
0.00002
|
NM_000540.3(RYR1):c.11726C>T (p.Thr3909Met)
|
rs762258310
|
0.00002
|
NM_000540.3(RYR1):c.12322C>G (p.Gln4108Glu)
|
rs774414325
|
0.00002
|
NM_000540.3(RYR1):c.12355A>T (p.Asn4119Tyr)
|
rs193922848
|
0.00002
|
NM_000540.3(RYR1):c.12624+9A>G
|
rs548515798
|
0.00002
|
NM_000540.3(RYR1):c.1264G>A (p.Gly422Arg)
|
rs757157750
|
0.00002
|
NM_000540.3(RYR1):c.13180G>A (p.Glu4394Lys)
|
rs748844266
|
0.00002
|
NM_000540.3(RYR1):c.13313T>G (p.Val4438Gly)
|
rs1328605630
|
0.00002
|
NM_000540.3(RYR1):c.13617C>T (p.Gly4539=)
|
rs2302296
|
0.00002
|
NM_000540.3(RYR1):c.1372T>G (p.Leu458Val)
|
rs369932139
|
0.00002
|
NM_000540.3(RYR1):c.13867G>A (p.Asp4623Asn)
|
rs547709829
|
0.00002
|
NM_000540.3(RYR1):c.13933C>T (p.Arg4645Trp)
|
rs377667641
|
0.00002
|
NM_000540.3(RYR1):c.13990T>C (p.Cys4664Arg)
|
rs759500310
|
0.00002
|
NM_000540.3(RYR1):c.14132C>G (p.Ser4711Cys)
|
rs201147958
|
0.00002
|
NM_000540.3(RYR1):c.14173-2A>G
|
rs1189024951
|
0.00002
|
NM_000540.3(RYR1):c.14697G>A (p.Gly4899=)
|
rs770698609
|
0.00002
|
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu)
|
rs146876145
|
0.00002
|
NM_000540.3(RYR1):c.15089G>A (p.Arg5030His)
|
rs747155223
|
0.00002
|
NM_000540.3(RYR1):c.1533C>T (p.Ala511=)
|
rs758172706
|
0.00002
|
NM_000540.3(RYR1):c.2107G>A (p.Gly703Ser)
|
rs773211015
|
0.00002
|
NM_000540.3(RYR1):c.2780C>T (p.Thr927Met)
|
rs751728775
|
0.00002
|
NM_000540.3(RYR1):c.2787-16A>G
|
rs998030731
|
0.00002
|
NM_000540.3(RYR1):c.3123C>T (p.Ala1041=)
|
rs569565316
|
0.00002
|
NM_000540.3(RYR1):c.3127C>T (p.Arg1043Cys)
|
rs111272095
|
0.00002
|
NM_000540.3(RYR1):c.3236C>G (p.Ser1079Cys)
|
rs773926353
|
0.00002
|
NM_000540.3(RYR1):c.3252C>T (p.Ser1084=)
|
rs144164620
|
0.00002
|
NM_000540.3(RYR1):c.3319G>A (p.Glu1107Lys)
|
rs777117206
|
0.00002
|
NM_000540.3(RYR1):c.3877C>A (p.Pro1293Thr)
|
rs146407179
|
0.00002
|
NM_000540.3(RYR1):c.4004G>A (p.Arg1335His)
|
rs750256869
|
0.00002
|
NM_000540.3(RYR1):c.4205C>T (p.Pro1402Leu)
|
rs766135560
|
0.00002
|
NM_000540.3(RYR1):c.424+4C>A
|
rs772775579
|
0.00002
|
NM_000540.3(RYR1):c.4520G>A (p.Arg1507Gln)
|
rs758206000
|
0.00002
|
NM_000540.3(RYR1):c.4637A>G (p.Lys1546Arg)
|
rs759947063
|
0.00002
|
NM_000540.3(RYR1):c.4674dup (p.Asn1559fs)
|
rs759632485
|
0.00002
|
NM_000540.3(RYR1):c.4678G>A (p.Val1560Ile)
|
rs767230160
|
0.00002
|
NM_000540.3(RYR1):c.4924G>A (p.Glu1642Lys)
|
rs1041070277
|
0.00002
|
NM_000540.3(RYR1):c.4980C>T (p.Arg1660=)
|
rs374115286
|
0.00002
|
NM_000540.3(RYR1):c.49G>A (p.Asp17Asn)
|
rs755878800
|
0.00002
|
NM_000540.3(RYR1):c.5962G>A (p.Ala1988Thr)
|
rs763360938
|
0.00002
|
NM_000540.3(RYR1):c.619C>T (p.Arg207Cys)
|
rs748140394
|
0.00002
|
NM_000540.3(RYR1):c.6274C>T (p.Arg2092Trp)
|
rs772164452
|
0.00002
|
NM_000540.3(RYR1):c.6359T>C (p.Met2120Thr)
|
rs398123473
|
0.00002
|
NM_000540.3(RYR1):c.6469G>A (p.Glu2157Lys)
|
rs554066182
|
0.00002
|
NM_000540.3(RYR1):c.6599C>T (p.Ala2200Val)
|
rs193922791
|
0.00002
|
NM_000540.3(RYR1):c.6743G>A (p.Arg2248His)
|
rs140152019
|
0.00002
|
NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile)
|
rs193922797
|
0.00002
|
NM_000540.3(RYR1):c.6860C>A (p.Ala2287Asp)
|
rs761154999
|
0.00002
|
NM_000540.3(RYR1):c.7063C>T (p.Arg2355Trp)
|
rs193922803
|
0.00002
|
NM_000540.3(RYR1):c.7154G>A (p.Arg2385His)
|
rs768343466
|
0.00002
|
NM_000540.3(RYR1):c.7488G>A (p.Pro2496=)
|
rs375997435
|
0.00002
|
NM_000540.3(RYR1):c.7631C>G (p.Thr2544Ser)
|
rs146326299
|
0.00002
|
NM_000540.3(RYR1):c.7778G>A (p.Arg2593His)
|
rs751180702
|
0.00002
|
NM_000540.3(RYR1):c.7855C>T (p.Leu2619=)
|
rs762212220
|
0.00002
|
NM_000540.3(RYR1):c.7897C>G (p.Leu2633Val)
|
rs757228479
|
0.00002
|
NM_000540.3(RYR1):c.8137G>A (p.Asp2713Asn)
|
rs765571437
|
0.00002
|
NM_000540.3(RYR1):c.8466G>A (p.Thr2822=)
|
rs761622550
|
0.00002
|
NM_000540.3(RYR1):c.8921T>C (p.Ile2974Thr)
|
rs1020896447
|
0.00002
|
NM_000540.3(RYR1):c.907G>A (p.Ala303Thr)
|
rs141764906
|
0.00002
|
NM_000540.3(RYR1):c.9122+8G>A
|
rs772116480
|
0.00002
|
NM_000540.3(RYR1):c.9555-14G>A
|
rs763353979
|
0.00002
|
NM_000540.3(RYR1):c.9825C>T (p.Pro3275=)
|
rs753425281
|
0.00002
|
NM_000540.3(RYR1):c.9892G>A (p.Ala3298Thr)
|
rs544339193
|
0.00002
|
NM_001100.4(ACTA1):c.809-16_809-15insG
|
rs746125735
|
0.00002
|
NM_020451.3(SELENON):c.988C>T (p.Arg330Trp)
|
rs1489695877
|
0.00002
|
NM_152263.4(TPM3):c.*1447G>A
|
rs1005684992
|
0.00002
|
NM_152263.4(TPM3):c.*3298A>G
|
rs946669485
|
0.00002
|
NM_152263.4(TPM3):c.*3860C>T
|
rs763202740
|
0.00002
|
NM_152263.4(TPM3):c.*4513G>A
|
rs886045296
|
0.00002
|
NM_152263.4(TPM3):c.*499C>A
|
rs745782085
|
0.00002
|
NM_152263.4(TPM3):c.231G>A (p.Lys77=)
|
rs761461964
|
0.00002
|
NM_152263.4(TPM3):c.234G>A (p.Lys78=)
|
rs888396890
|
0.00002
|
NM_152263.4(TPM3):c.378-13C>T
|
rs367548433
|
0.00002
|
NM_152263.4(TPM3):c.777T>C (p.Asp259=)
|
rs767812868
|
0.00002
|
NM_152263.4(TPM3):c.855-1G>A
|
rs113605263
|
0.00002
|
NM_152263.4(TPM3):c.86A>C (p.Glu29Ala)
|
rs1049537934
|
0.00002
|
NM_000257.4(MYH7):c.124G>A (p.Asp42Asn)
|
rs780785242
|
0.00001
|
NM_000257.4(MYH7):c.1257+7C>A
|
rs759480696
|
0.00001
|
NM_000257.4(MYH7):c.1370T>C (p.Ile457Thr)
|
rs397516103
|
0.00001
|
NM_000257.4(MYH7):c.1630A>G (p.Thr544Ala)
|
rs397516119
|
0.00001
|
NM_000257.4(MYH7):c.1772T>C (p.Ile591Thr)
|
rs775089432
|
0.00001
|
NM_000257.4(MYH7):c.1879G>T (p.Ala627Ser)
|
rs1174863002
|
0.00001
|
NM_000257.4(MYH7):c.2137A>G (p.Ile713Val)
|
rs1339799654
|
0.00001
|
NM_000257.4(MYH7):c.2155C>T (p.Arg719Trp)
|
rs121913637
|
0.00001
|
NM_000257.4(MYH7):c.2508C>G (p.Ile836Met)
|
rs772442923
|
0.00001
|
NM_000257.4(MYH7):c.2556G>A (p.Met852Ile)
|
rs1343088568
|
0.00001
|
NM_000257.4(MYH7):c.2570C>T (p.Thr857Ile)
|
rs397516158
|
0.00001
|
NM_000257.4(MYH7):c.2677G>A (p.Ala893Thr)
|
rs750204313
|
0.00001
|
NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly)
|
rs397516161
|
0.00001
|
NM_000257.4(MYH7):c.268A>G (p.Met90Val)
|
rs769054108
|
0.00001
|
NM_000257.4(MYH7):c.2717A>G (p.Asp906Gly)
|
rs267606908
|
0.00001
|
NM_000257.4(MYH7):c.2804A>T (p.Glu935Val)
|
rs730880761
|
0.00001
|
NM_000257.4(MYH7):c.2973G>T (p.Lys991Asn)
|
rs727504388
|
0.00001
|
NM_000257.4(MYH7):c.3010C>G (p.Gln1004Glu)
|
rs730880762
|
0.00001
|
NM_000257.4(MYH7):c.3028C>T (p.Leu1010Phe)
|
rs768312155
|
0.00001
|
NM_000257.4(MYH7):c.3110C>A (p.Ser1037Tyr)
|
rs1159928168
|
0.00001
|
NM_000257.4(MYH7):c.3200T>C (p.Met1067Thr)
|
rs763564858
|
0.00001
|
NM_000257.4(MYH7):c.3245+2T>G
|
rs113859723
|
0.00001
|
NM_000257.4(MYH7):c.3455A>T (p.Glu1152Val)
|
rs397516184
|
0.00001
|
NM_000257.4(MYH7):c.3457G>A (p.Ala1153Thr)
|
rs774812187
|
0.00001
|
NM_000257.4(MYH7):c.3589G>A (p.Ala1197Thr)
|
rs1487430775
|
0.00001
|
NM_000257.4(MYH7):c.3610G>C (p.Gly1204Arg)
|
rs397516188
|
0.00001
|
NM_000257.4(MYH7):c.3711G>A (p.Gln1237=)
|
rs1361182615
|
0.00001
|
NM_000257.4(MYH7):c.3734T>A (p.Leu1245Gln)
|
rs397516192
|
0.00001
|
NM_000257.4(MYH7):c.3830G>A (p.Arg1277Gln)
|
rs397516195
|
0.00001
|
NM_000257.4(MYH7):c.3856G>A (p.Glu1286Lys)
|
rs397516196
|
0.00001
|
NM_000257.4(MYH7):c.3866G>A (p.Arg1289Gln)
|
rs1287612987
|
0.00001
|
NM_000257.4(MYH7):c.3883G>A (p.Glu1295Lys)
|
rs730880785
|
0.00001
|
NM_000257.4(MYH7):c.3994G>A (p.Ala1332Thr)
|
rs397516198
|
0.00001
|
NM_000257.4(MYH7):c.4004C>T (p.Ser1335Leu)
|
rs397516199
|
0.00001
|
NM_000257.4(MYH7):c.4042G>A (p.Glu1348Lys)
|
rs1275262402
|
0.00001
|
NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met)
|
rs397516201
|
0.00001
|
NM_000257.4(MYH7):c.4219G>A (p.Val1407Ile)
|
rs730880795
|
0.00001
|
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp)
|
rs145213771
|
0.00001
|
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln)
|
rs397516209
|
0.00001
|
NM_000257.4(MYH7):c.4321G>T (p.Ala1441Ser)
|
rs745414245
|
0.00001
|
NM_000257.4(MYH7):c.4353+20C>T
|
rs199912646
|
0.00001
|
NM_000257.4(MYH7):c.4440G>T (p.Glu1480Asp)
|
rs1351661186
|
0.00001
|
NM_000257.4(MYH7):c.4588C>T (p.Arg1530Ter)
|
rs397516225
|
0.00001
|
NM_000257.4(MYH7):c.4679G>A (p.Arg1560Gln)
|
rs730880806
|
0.00001
|
NM_000257.4(MYH7):c.4775G>A (p.Arg1592Gln)
|
rs1257980330
|
0.00001
|
NM_000257.4(MYH7):c.4807G>A (p.Ala1603Thr)
|
rs730880809
|
0.00001
|
NM_000257.4(MYH7):c.493A>G (p.Met165Val)
|
rs730880839
|
0.00001
|
NM_000257.4(MYH7):c.5026C>T (p.Arg1676Trp)
|
rs753115999
|
0.00001
|
NM_000257.4(MYH7):c.5030G>A (p.Arg1677His)
|
rs730880914
|
0.00001
|
NM_000257.4(MYH7):c.5037C>G (p.Asn1679Lys)
|
rs1358888752
|
0.00001
|
NM_000257.4(MYH7):c.5065C>T (p.Arg1689Cys)
|
rs730880915
|
0.00001
|
NM_000257.4(MYH7):c.5066G>A (p.Arg1689His)
|
rs772008016
|
0.00001
|
NM_000257.4(MYH7):c.5157G>A (p.Gln1719=)
|
rs769875223
|
0.00001
|
NM_000257.4(MYH7):c.5203T>A (p.Ser1735Thr)
|
rs144066768
|
0.00001
|
NM_000257.4(MYH7):c.5229G>T (p.Glu1743Asp)
|
rs149509691
|
0.00001
|
NM_000257.4(MYH7):c.5386C>T (p.Arg1796Trp)
|
rs748598020
|
0.00001
|
NM_000257.4(MYH7):c.5452C>T (p.Arg1818Trp)
|
rs763073072
|
0.00001
|
NM_000257.4(MYH7):c.5530G>A (p.Glu1844Lys)
|
rs730880821
|
0.00001
|
NM_000257.4(MYH7):c.5587C>T (p.Arg1863Trp)
|
rs376668612
|
0.00001
|
NM_000257.4(MYH7):c.5588G>A (p.Arg1863Gln)
|
rs45520836
|
0.00001
|
NM_000257.4(MYH7):c.5606A>G (p.Asp1869Gly)
|
rs730880824
|
0.00001
|
NM_000257.4(MYH7):c.5647G>A (p.Glu1883Lys)
|
rs121913652
|
0.00001
|
NM_000257.4(MYH7):c.5661G>A (p.Glu1887=)
|
rs730880727
|
0.00001
|
NM_000257.4(MYH7):c.5671A>G (p.Thr1891Ala)
|
rs1295948508
|
0.00001
|
NM_000257.4(MYH7):c.5737G>A (p.Ala1913Thr)
|
rs747451109
|
0.00001
|
NM_000257.4(MYH7):c.5774G>A (p.Arg1925His)
|
rs752553589
|
0.00001
|
NM_000257.4(MYH7):c.610C>T (p.Arg204Cys)
|
rs397516259
|
0.00001
|
NM_000257.4(MYH7):c.68G>A (p.Arg23Gln)
|
rs1169518192
|
0.00001
|
NM_000257.4(MYH7):c.727C>T (p.Arg243Cys)
|
rs397516265
|
0.00001
|
NM_000257.4(MYH7):c.76G>A (p.Ala26Thr)
|
rs775643803
|
0.00001
|
NM_000257.4(MYH7):c.969T>G (p.Ile323Met)
|
rs730880861
|
0.00001
|
NM_000540.2(RYR1):c.14647-1449A>G
|
rs193922886
|
0.00001
|
NM_000540.3(RYR1):c.-118G>A
|
rs1972297039
|
0.00001
|
NM_000540.3(RYR1):c.10034T>C (p.Ile3345Thr)
|
rs757271636
|
0.00001
|
NM_000540.3(RYR1):c.10043G>A (p.Arg3348His)
|
rs193922834
|
0.00001
|
NM_000540.3(RYR1):c.10049G>A (p.Arg3350Gln)
|
rs538500669
|
0.00001
|
NM_000540.3(RYR1):c.10318G>A (p.Glu3440Lys)
|
rs1971294742
|
0.00001
|
NM_000540.3(RYR1):c.10441-8T>C
|
rs755330618
|
0.00001
|
NM_000540.3(RYR1):c.10459G>A (p.Gly3487Ser)
|
rs371645169
|
0.00001
|
NM_000540.3(RYR1):c.10496G>C (p.Arg3499Pro)
|
rs138324438
|
0.00001
|
NM_000540.3(RYR1):c.10609A>G (p.Lys3537Glu)
|
rs1009040238
|
0.00001
|
NM_000540.3(RYR1):c.1087C>T (p.Pro363Ser)
|
rs367995800
|
0.00001
|
NM_000540.3(RYR1):c.11193+3G>A
|
rs886054400
|
0.00001
|
NM_000540.3(RYR1):c.11590+1G>T
|
rs113928116
|
0.00001
|
NM_000540.3(RYR1):c.11706A>G (p.Leu3902=)
|
rs776123178
|
0.00001
|
NM_000540.3(RYR1):c.11735T>A (p.Ile3912Asn)
|
rs150588606
|
0.00001
|
NM_000540.3(RYR1):c.11811G>A (p.Ser3937=)
|
rs794727946
|
0.00001
|
NM_000540.3(RYR1):c.1204A>G (p.Met402Val)
|
rs766763626
|
0.00001
|
NM_000540.3(RYR1):c.1218C>T (p.Thr406=)
|
rs3745846
|
0.00001
|
NM_000540.3(RYR1):c.12218C>T (p.Ser4073Phe)
|
rs763042731
|
0.00001
|
NM_000540.3(RYR1):c.12219T>A (p.Ser4073=)
|
rs764395582
|
0.00001
|
NM_000540.3(RYR1):c.12250C>T (p.Arg4084Cys)
|
rs755879946
|
0.00001
|
NM_000540.3(RYR1):c.12314C>G (p.Pro4105Arg)
|
rs1309530680
|
0.00001
|
NM_000540.3(RYR1):c.12406C>A (p.Arg4136Ser)
|
rs193922849
|
0.00001
|
NM_000540.3(RYR1):c.12599A>T (p.Asn4200Ile)
|
rs199660276
|
0.00001
|
NM_000540.3(RYR1):c.12608A>G (p.Gln4203Arg)
|
rs757438220
|
0.00001
|
NM_000540.3(RYR1):c.12802G>A (p.Ala4268Thr)
|
rs886054404
|
0.00001
|
NM_000540.3(RYR1):c.12962G>A (p.Arg4321Gln)
|
rs1313365429
|
0.00001
|
NM_000540.3(RYR1):c.13039G>A (p.Gly4347Ser)
|
rs1568583100
|
0.00001
|
NM_000540.3(RYR1):c.13081T>A (p.Ser4361Thr)
|
rs746798861
|
0.00001
|
NM_000540.3(RYR1):c.13089C>A (p.Phe4363Leu)
|
rs757097846
|
0.00001
|
NM_000540.3(RYR1):c.13111G>A (p.Ala4371Thr)
|
rs1337566743
|
0.00001
|
NM_000540.3(RYR1):c.13142C>G (p.Ala4381Gly)
|
rs794727983
|
0.00001
|
NM_000540.3(RYR1):c.13165G>A (p.Asp4389Asn)
|
rs774812209
|
0.00001
|
NM_000540.3(RYR1):c.13234G>A (p.Ala4412Thr)
|
rs759639541
|
0.00001
|
NM_000540.3(RYR1):c.13334C>G (p.Pro4445Arg)
|
rs905232339
|
0.00001
|
NM_000540.3(RYR1):c.13484C>T (p.Pro4495Leu)
|
rs138929547
|
0.00001
|
NM_000540.3(RYR1):c.13525_13531dup (p.Lys4511fs)
|
rs928989953
|
0.00001
|
NM_000540.3(RYR1):c.13548G>C (p.Glu4516Asp)
|
rs1057520187
|
0.00001
|
NM_000540.3(RYR1):c.13672C>T (p.Arg4558Trp)
|
rs771741606
|
0.00001
|
NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln)
|
rs118192130
|
0.00001
|
NM_000540.3(RYR1):c.13807G>C (p.Gly4603Arg)
|
rs373231458
|
0.00001
|
NM_000540.3(RYR1):c.13885G>A (p.Val4629Met)
|
rs752668333
|
0.00001
|
NM_000540.3(RYR1):c.14041A>C (p.Lys4681Gln)
|
rs1912187896
|
0.00001
|
NM_000540.3(RYR1):c.14129+10C>A
|
rs546280470
|
0.00001
|
NM_000540.3(RYR1):c.14129+1G>A
|
rs142929172
|
0.00001
|
NM_000540.3(RYR1):c.14130-2A>G
|
rs1457662393
|
0.00001
|
NM_000540.3(RYR1):c.14170A>C (p.Lys4724Gln)
|
rs118192141
|
0.00001
|
NM_000540.3(RYR1):c.14189G>T (p.Gly4730Val)
|
rs763466452
|
0.00001
|
NM_000540.3(RYR1):c.1418G>A (p.Arg473His)
|
rs538087438
|
0.00001
|
NM_000540.3(RYR1):c.14273A>G (p.Lys4758Arg)
|
rs1974034199
|
0.00001
|
NM_000540.3(RYR1):c.14474G>A (p.Arg4825His)
|
rs193922875
|
0.00001
|
NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile)
|
rs118192168
|
0.00001
|
NM_000540.3(RYR1):c.14645C>T (p.Thr4882Met)
|
rs193922884
|
0.00001
|
NM_000540.3(RYR1):c.14701G>A (p.Glu4901Lys)
|
rs764602570
|
0.00001
|
NM_000540.3(RYR1):c.14706C>T (p.Ile4902=)
|
rs886054411
|
0.00001
|
NM_000540.3(RYR1):c.14818G>A (p.Ala4940Thr)
|
rs118192158
|
0.00001
|
NM_000540.3(RYR1):c.14833C>T (p.Arg4945Ter)
|
rs1432807966
|
0.00001
|
NM_000540.3(RYR1):c.14869-5C>G
|
rs1199304403
|
0.00001
|
NM_000540.3(RYR1):c.15022-14A>G
|
rs1355487795
|
0.00001
|
NM_000540.3(RYR1):c.1518A>G (p.Ala506=)
|
rs1488570862
|
0.00001
|
NM_000540.3(RYR1):c.1715A>C (p.Glu572Ala)
|
rs779551357
|
0.00001
|
NM_000540.3(RYR1):c.1739A>G (p.Asn580Ser)
|
rs373301841
|
0.00001
|
NM_000540.3(RYR1):c.178G>A (p.Asp60Asn)
|
rs118192160
|
0.00001
|
NM_000540.3(RYR1):c.1882C>T (p.Arg628Cys)
|
rs757284447
|
0.00001
|
NM_000540.3(RYR1):c.1967C>T (p.Thr656Met)
|
rs4802472
|
0.00001
|
NM_000540.3(RYR1):c.1983G>A (p.Trp661Ter)
|
rs1305971341
|
0.00001
|
NM_000540.3(RYR1):c.199G>A (p.Val67Ile)
|
rs761182247
|
0.00001
|
NM_000540.3(RYR1):c.2065G>A (p.Glu689Lys)
|
rs144845360
|
0.00001
|
NM_000540.3(RYR1):c.2092G>A (p.Gly698Ser)
|
rs866990461
|
0.00001
|
NM_000540.3(RYR1):c.2113G>A (p.Gly705Arg)
|
rs565825739
|
0.00001
|
NM_000540.3(RYR1):c.2437G>T (p.Ala813Ser)
|
rs558181103
|
0.00001
|
NM_000540.3(RYR1):c.255G>T (p.Val85=)
|
rs532101469
|
0.00001
|
NM_000540.3(RYR1):c.2646G>A (p.Ala882=)
|
rs375163703
|
0.00001
|
NM_000540.3(RYR1):c.2682+13C>T
|
rs745844424
|
0.00001
|
NM_000540.3(RYR1):c.2682G>T (p.Pro894=)
|
rs919322708
|
0.00001
|
NM_000540.3(RYR1):c.2686C>T (p.Arg896Trp)
|
rs371050482
|
0.00001
|
NM_000540.3(RYR1):c.2823G>A (p.Ala941=)
|
rs750305530
|
0.00001
|
NM_000540.3(RYR1):c.2870C>T (p.Thr957Met)
|
rs201827275
|
0.00001
|
NM_000540.3(RYR1):c.2897C>T (p.Pro966Leu)
|
rs143179371
|
0.00001
|
NM_000540.3(RYR1):c.2931G>A (p.Thr977=)
|
rs771471004
|
0.00001
|
NM_000540.3(RYR1):c.3055C>T (p.Arg1019Trp)
|
rs757715804
|
0.00001
|
NM_000540.3(RYR1):c.3056G>A (p.Arg1019Gln)
|
rs781550981
|
0.00001
|
NM_000540.3(RYR1):c.3145G>A (p.Gly1049Ser)
|
rs990842315
|
0.00001
|
NM_000540.3(RYR1):c.3164C>G (p.Pro1055Arg)
|
rs1254584171
|
0.00001
|
NM_000540.3(RYR1):c.3200G>A (p.Arg1067His)
|
rs377381782
|
0.00001
|
NM_000540.3(RYR1):c.3215G>A (p.Arg1072His)
|
rs757261781
|
0.00001
|
NM_000540.3(RYR1):c.3257G>A (p.Arg1086His)
|
rs764009626
|
0.00001
|
NM_000540.3(RYR1):c.3299G>A (p.Arg1100His)
|
rs755973279
|
0.00001
|
NM_000540.3(RYR1):c.3301G>A (p.Val1101Met)
|
rs145088074
|
0.00001
|
NM_000540.3(RYR1):c.3371A>G (p.Asn1124Ser)
|
rs377285238
|
0.00001
|
NM_000540.3(RYR1):c.3381+5G>A
|
rs199691436
|
0.00001
|
NM_000540.3(RYR1):c.3382G>A (p.Gly1128Ser)
|
rs773310568
|
0.00001
|
NM_000540.3(RYR1):c.3418C>T (p.Arg1140Cys)
|
rs193922776
|
0.00001
|
NM_000540.3(RYR1):c.3667G>A (p.Glu1223Lys)
|
rs936513262
|
0.00001
|
NM_000540.3(RYR1):c.3719G>T (p.Gly1240Val)
|
rs1374486975
|
0.00001
|
NM_000540.3(RYR1):c.3826T>A (p.Trp1276Arg)
|
rs754104129
|
0.00001
|
NM_000540.3(RYR1):c.3901C>T (p.Arg1301Cys)
|
rs745920741
|
0.00001
|
NM_000540.3(RYR1):c.3981C>G (p.Pro1327=)
|
rs763082630
|
0.00001
|
NM_000540.3(RYR1):c.4056G>A (p.Ala1352=)
|
rs915321867
|
0.00001
|
NM_000540.3(RYR1):c.4061A>C (p.Glu1354Ala)
|
rs1458779012
|
0.00001
|
NM_000540.3(RYR1):c.4122T>A (p.Asn1374Lys)
|
rs886054382
|
0.00001
|
NM_000540.3(RYR1):c.4160+1G>A
|
rs113460156
|
0.00001
|
NM_000540.3(RYR1):c.4259G>A (p.Arg1420His)
|
rs150499158
|
0.00001
|
NM_000540.3(RYR1):c.4293G>A (p.Thr1431=)
|
rs727504130
|
0.00001
|
NM_000540.3(RYR1):c.4444G>A (p.Val1482Ile)
|
rs747718728
|
0.00001
|
NM_000540.3(RYR1):c.4480G>C (p.Val1494Leu)
|
rs886054387
|
0.00001
|
NM_000540.3(RYR1):c.4488C>T (p.Gly1496=)
|
rs886038331
|
0.00001
|
NM_000540.3(RYR1):c.4533G>A (p.Thr1511=)
|
rs147901772
|
0.00001
|
NM_000540.3(RYR1):c.46-1G>A
|
rs1238479593
|
0.00001
|
NM_000540.3(RYR1):c.46-5C>T
|
rs774388278
|
0.00001
|
NM_000540.3(RYR1):c.4633A>G (p.Thr1545Ala)
|
rs1386118815
|
0.00001
|
NM_000540.3(RYR1):c.4650C>T (p.Ala1550=)
|
rs200600174
|
0.00001
|
NM_000540.3(RYR1):c.4715T>C (p.Met1572Thr)
|
rs1165213387
|
0.00001
|
NM_000540.3(RYR1):c.4766A>C (p.Gln1589Pro)
|
rs780420237
|
0.00001
|
NM_000540.3(RYR1):c.4775C>T (p.Pro1592Leu)
|
rs193922777
|
0.00001
|
NM_000540.3(RYR1):c.4816C>T (p.Arg1606Cys)
|
rs774316371
|
0.00001
|
NM_000540.3(RYR1):c.4853G>A (p.Arg1618His)
|
rs957392274
|
0.00001
|
NM_000540.3(RYR1):c.488G>A (p.Arg163His)
|
rs193922753
|
0.00001
|
NM_000540.3(RYR1):c.4958C>T (p.Ser1653Leu)
|
rs1043661945
|
0.00001
|
NM_000540.3(RYR1):c.5009G>A (p.Arg1670His)
|
rs1248039154
|
0.00001
|
NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe)
|
rs193922781
|
0.00001
|
NM_000540.3(RYR1):c.526G>A (p.Glu176Lys)
|
rs761616815
|
0.00001
|
NM_000540.3(RYR1):c.5273C>T (p.Pro1758Leu)
|
rs371317448
|
0.00001
|
NM_000540.3(RYR1):c.5314A>G (p.Arg1772Gly)
|
rs1568484835
|
0.00001
|
NM_000540.3(RYR1):c.550G>A (p.Ala184Thr)
|
rs766256366
|
0.00001
|
NM_000540.3(RYR1):c.5548-9G>T
|
rs776320867
|
0.00001
|
NM_000540.3(RYR1):c.5607G>C (p.Glu1869Asp)
|
rs1043076830
|
0.00001
|
NM_000540.3(RYR1):c.577T>A (p.Ser193Thr)
|
rs886054379
|
0.00001
|
NM_000540.3(RYR1):c.5999C>T (p.Ser2000Phe)
|
rs750324313
|
0.00001
|
NM_000540.3(RYR1):c.6128-3C>T
|
rs775568216
|
0.00001
|
NM_000540.3(RYR1):c.6388G>A (p.Gly2130Arg)
|
rs193922789
|
0.00001
|
NM_000540.3(RYR1):c.6407G>A (p.Arg2136His)
|
rs530885842
|
0.00001
|
NM_000540.3(RYR1):c.6445G>A (p.Val2149Met)
|
rs776830747
|
0.00001
|
NM_000540.3(RYR1):c.6487C>T (p.Arg2163Cys)
|
rs118192175
|
0.00001
|
NM_000540.3(RYR1):c.6549-8G>A
|
rs756593088
|
0.00001
|
NM_000540.3(RYR1):c.6554T>C (p.Ile2185Thr)
|
rs1186616874
|
0.00001
|
NM_000540.3(RYR1):c.658C>T (p.Arg220Cys)
|
rs1220780685
|
0.00001
|
NM_000540.3(RYR1):c.6664-2A>G
|
rs1346257891
|
0.00001
|
NM_000540.3(RYR1):c.668A>G (p.His223Arg)
|
rs766836202
|
0.00001
|
NM_000540.3(RYR1):c.6700C>T (p.Arg2234Cys)
|
rs201465595
|
0.00001
|
NM_000540.3(RYR1):c.683A>G (p.Glu228Gly)
|
rs1260538999
|
0.00001
|
NM_000540.3(RYR1):c.7027G>A (p.Gly2343Ser)
|
rs536596969
|
0.00001
|
NM_000540.3(RYR1):c.7029C>T (p.Gly2343=)
|
rs138617219
|
0.00001
|
NM_000540.3(RYR1):c.7039G>A (p.Glu2347Lys)
|
rs750951875
|
0.00001
|
NM_000540.3(RYR1):c.7072A>C (p.Ile2358Leu)
|
rs759306349
|
0.00001
|
NM_000540.3(RYR1):c.7192C>T (p.Arg2398Cys)
|
rs751654689
|
0.00001
|
NM_000540.3(RYR1):c.7215-3C>T
|
rs1190472871
|
0.00001
|
NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys)
|
rs118192174
|
0.00001
|
NM_000540.3(RYR1):c.7282G>A (p.Ala2428Thr)
|
rs193922809
|
0.00001
|
NM_000540.3(RYR1):c.7361G>A (p.Arg2454His)
|
rs118192122
|
0.00001
|
NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys)
|
rs28933397
|
0.00001
|
NM_000540.3(RYR1):c.737A>G (p.Tyr246Cys)
|
rs923613797
|
0.00001
|
NM_000540.3(RYR1):c.7385C>T (p.Pro2462Leu)
|
rs551223467
|
0.00001
|
NM_000540.3(RYR1):c.7422G>A (p.Leu2474=)
|
rs758872814
|
0.00001
|
NM_000540.3(RYR1):c.7604C>T (p.Ser2535Leu)
|
rs776163386
|
0.00001
|
NM_000540.3(RYR1):c.7628C>T (p.Thr2543Ile)
|
rs1471770301
|
0.00001
|
NM_000540.3(RYR1):c.7640C>T (p.Ala2547Val)
|
rs751482960
|
0.00001
|
NM_000540.3(RYR1):c.7700C>T (p.Pro2567Leu)
|
rs768399513
|
0.00001
|
NM_000540.3(RYR1):c.7787C>T (p.Thr2596Ile)
|
rs193922824
|
0.00001
|
NM_000540.3(RYR1):c.7813G>A (p.Asp2605Asn)
|
rs754339645
|
0.00001
|
NM_000540.3(RYR1):c.7842C>T (p.Ile2614=)
|
rs777420696
|
0.00001
|
NM_000540.3(RYR1):c.7843C>T (p.Arg2615Cys)
|
rs1222041246
|
0.00001
|
NM_000540.3(RYR1):c.7857G>A (p.Leu2619=)
|
rs547048377
|
0.00001
|
NM_000540.3(RYR1):c.7858C>T (p.Gln2620Ter)
|
rs1365856881
|
0.00001
|
NM_000540.3(RYR1):c.7859A>C (p.Gln2620Pro)
|
rs1425983637
|
0.00001
|
NM_000540.3(RYR1):c.8078C>T (p.Pro2693Leu)
|
rs568662364
|
0.00001
|
NM_000540.3(RYR1):c.8082G>A (p.Glu2694=)
|
rs745619519
|
0.00001
|
NM_000540.3(RYR1):c.8090G>A (p.Arg2697His)
|
rs1254090942
|
0.00001
|
NM_000540.3(RYR1):c.8213G>A (p.Arg2738Gln)
|
rs766961940
|
0.00001
|
NM_000540.3(RYR1):c.82C>T (p.Leu28Phe)
|
rs1242495143
|
0.00001
|
NM_000540.3(RYR1):c.8310+1G>T
|
rs1970380121
|
0.00001
|
NM_000540.3(RYR1):c.8377C>T (p.Pro2793Ser)
|
rs369040621
|
0.00001
|
NM_000540.3(RYR1):c.838C>T (p.Arg280Ter)
|
rs1278804520
|
0.00001
|
NM_000540.3(RYR1):c.839G>A (p.Arg280Gln)
|
rs1319877486
|
0.00001
|
NM_000540.3(RYR1):c.847C>T (p.His283Tyr)
|
rs753985252
|
0.00001
|
NM_000540.3(RYR1):c.8514A>C (p.Lys2838Asn)
|
rs140171924
|
0.00001
|
NM_000540.3(RYR1):c.8518C>T (p.Arg2840Trp)
|
rs193922830
|
0.00001
|
NM_000540.3(RYR1):c.8519G>A (p.Arg2840Gln)
|
rs923436076
|
0.00001
|
NM_000540.3(RYR1):c.8550T>C (p.Asp2850=)
|
rs767925886
|
0.00001
|
NM_000540.3(RYR1):c.8692+15G>A
|
rs1219182533
|
0.00001
|
NM_000540.3(RYR1):c.880G>A (p.Glu294Lys)
|
rs779597449
|
0.00001
|
NM_000540.3(RYR1):c.8888T>C (p.Leu2963Pro)
|
rs756870293
|
0.00001
|
NM_000540.3(RYR1):c.8991C>A (p.Phe2997Leu)
|
rs1377413977
|
0.00001
|
NM_000540.3(RYR1):c.9001-8G>A
|
rs768611849
|
0.00001
|
NM_000540.3(RYR1):c.9096T>A (p.Ser3032=)
|
rs144067910
|
0.00001
|
NM_000540.3(RYR1):c.9101A>C (p.Lys3034Thr)
|
rs754966992
|
0.00001
|
NM_000540.3(RYR1):c.9278G>A (p.Arg3093His)
|
rs1414706865
|
0.00001
|
NM_000540.3(RYR1):c.929C>T (p.Ala310Val)
|
rs966781989
|
0.00001
|
NM_000540.3(RYR1):c.9305A>G (p.Asp3102Gly)
|
rs1970766556
|
0.00001
|
NM_000540.3(RYR1):c.946C>T (p.Arg316Cys)
|
rs752652072
|
0.00001
|
NM_000540.3(RYR1):c.9472+1G>A
|
rs776697656
|
0.00001
|
NM_000540.3(RYR1):c.9511A>C (p.Ser3171Arg)
|
rs370851939
|
0.00001
|
NM_000540.3(RYR1):c.9554+13A>T
|
rs1265960627
|
0.00001
|
NM_000540.3(RYR1):c.9559C>T (p.Arg3187Trp)
|
rs1376794459
|
0.00001
|
NM_000540.3(RYR1):c.9560G>A (p.Arg3187Gln)
|
rs1171145743
|
0.00001
|
NM_000540.3(RYR1):c.9571G>A (p.Gly3191Arg)
|
rs756331568
|
0.00001
|
NM_000540.3(RYR1):c.9615C>G (p.Phe3205Leu)
|
rs1223136232
|
0.00001
|
NM_000540.3(RYR1):c.9623C>T (p.Pro3208Leu)
|
rs758210285
|
0.00001
|
NM_000540.3(RYR1):c.9638A>G (p.Tyr3213Cys)
|
rs886054398
|
0.00001
|
NM_000540.3(RYR1):c.9685+8G>T
|
rs752615788
|
0.00001
|
NM_000540.3(RYR1):c.9685A>G (p.Ile3229Val)
|
rs1449733977
|
0.00001
|
NM_000540.3(RYR1):c.9703A>C (p.Ser3235Arg)
|
rs747488155
|
0.00001
|
NM_000540.3(RYR1):c.9706G>A (p.Val3236Met)
|
rs771264217
|
0.00001
|
NM_000540.3(RYR1):c.9716T>A (p.Met3239Lys)
|
rs371027185
|
0.00001
|
NM_000540.3(RYR1):c.9732G>A (p.Pro3244=)
|
rs764290955
|
0.00001
|
NM_000540.3(RYR1):c.9989A>G (p.Asp3330Gly)
|
rs529012478
|
0.00001
|
NM_001100.4(ACTA1):c.*66G>A
|
rs1403018747
|
0.00001
|
NM_001100.4(ACTA1):c.454+3G>T
|
rs200976037
|
0.00001
|
NM_001100.4(ACTA1):c.888T>C (p.Tyr296=)
|
rs770931836
|
0.00001
|
NM_020451.3(SELENON):c.481C>T (p.Arg161Ter)
|
rs778603129
|
0.00001
|
NM_020451.3(SELENON):c.872G>A (p.Arg291Gln)
|
rs199564797
|
0.00001
|
NM_152263.4(TPM3):c.*1097C>T
|
rs886045310
|
0.00001
|
NM_152263.4(TPM3):c.*1152C>T
|
rs535068015
|
0.00001
|
NM_152263.4(TPM3):c.*1521G>T
|
rs949522786
|
0.00001
|
NM_152263.4(TPM3):c.*1652G>A
|
rs543538969
|
0.00001
|
NM_152263.4(TPM3):c.*2053G>C
|
rs969372773
|
0.00001
|
NM_152263.4(TPM3):c.*2116T>C
|
rs886045307
|
0.00001
|
NM_152263.4(TPM3):c.*2240C>T
|
rs561949016
|
0.00001
|
NM_152263.4(TPM3):c.*254G>A
|
rs1286827899
|
0.00001
|
NM_152263.4(TPM3):c.*2630T>A
|
rs767983989
|
0.00001
|
NM_152263.4(TPM3):c.*283G>C
|
rs886045316
|
0.00001
|
NM_152263.4(TPM3):c.*312A>G
|
rs1251165733
|
0.00001
|
NM_152263.4(TPM3):c.*4287A>G
|
rs1383649289
|
0.00001
|
NM_152263.4(TPM3):c.*4525G>T
|
rs886045295
|
0.00001
|
NM_152263.4(TPM3):c.*4872A>G
|
rs1660550689
|
0.00001
|
NM_152263.4(TPM3):c.*4940C>G
|
rs562373211
|
0.00001
|
NM_152263.4(TPM3):c.*5437G>A
|
rs929840818
|
0.00001
|
NM_152263.4(TPM3):c.*5901G>C
|
rs1287850337
|
0.00001
|
NM_152263.4(TPM3):c.*88G>T
|
rs1306456266
|
0.00001
|
NM_152263.4(TPM3):c.172C>T (p.Leu58=)
|
rs997905094
|
0.00001
|
NM_152263.4(TPM3):c.210G>A (p.Glu70=)
|
rs767668245
|
0.00001
|
NM_152263.4(TPM3):c.228G>A (p.Glu76=)
|
rs765071258
|
0.00001
|
NM_152263.4(TPM3):c.246T>C (p.Ala82=)
|
rs751578993
|
0.00001
|
NM_152263.4(TPM3):c.339G>A (p.Lys113=)
|
rs548951753
|
0.00001
|
NM_152263.4(TPM3):c.340C>T (p.Leu114=)
|
rs760913266
|
0.00001
|
NM_152263.4(TPM3):c.483G>A (p.Arg161=)
|
rs150586027
|
0.00001
|
NM_152263.4(TPM3):c.546A>G (p.Glu182=)
|
rs762856025
|
0.00001
|
NM_152263.4(TPM3):c.567-4A>C
|
rs199517163
|
0.00001
|
NM_152263.4(TPM3):c.615C>G (p.Leu205=)
|
rs1131561
|
0.00001
|
NM_152263.4(TPM3):c.642+4G>T
|
rs1462764945
|
0.00001
|
NM_152263.4(TPM3):c.643-3C>T
|
rs529845435
|
0.00001
|
NM_152263.4(TPM3):c.65G>A (p.Arg22Gln)
|
rs1553251640
|
0.00001
|
NM_152263.4(TPM3):c.680A>G (p.Lys227Arg)
|
rs201202440
|
0.00001
|
NM_152263.4(TPM3):c.705+19T>C
|
rs765448962
|
0.00001
|
NM_152263.4(TPM3):c.761T>C (p.Ile254Thr)
|
rs761036509
|
0.00001
|
NM_152263.4(TPM3):c.776-8C>T
|
rs760834004
|
0.00001
|
NM_152263.4(TPM3):c.788C>G (p.Ala263Gly)
|
rs1455676920
|
0.00001
|
NM_152263.4(TPM3):c.816C>G (p.Ser272Arg)
|
rs536564074
|
0.00001
|
NM_152263.4(TPM3):c.816C>T (p.Ser272=)
|
rs536564074
|
0.00001
|
NM_152263.4(TPM3):c.829C>A (p.His277Asn)
|
rs747794605
|
0.00001
|
NM_152263.4(TPM3):c.832G>A (p.Ala278Thr)
|
rs377438824
|
0.00001
|
NM_152263.4(TPM3):c.835C>G (p.Leu279Val)
|
rs186253666
|
0.00001
|
NM_152263.4(TPM3):c.844A>G (p.Met282Val)
|
rs1661325667
|
0.00001
|
NM_152263.4(TPM3):c.849C>T (p.Thr283=)
|
rs758366885
|
0.00001
|
NM_152263.4(TPM3):c.853A>G (p.Ile285Val)
|
rs758557977
|
0.00001
|
NM_152263.4(TPM3):c.854+20G>A
|
rs1300002756
|
0.00001
|
NM_152263.4(TPM3):c.857A>C (p.Ter286Ser)
|
rs199474720
|
0.00001
|
NM_213674.1(TPM2):c.776C>G (p.Thr259Ser)
|
rs1197412497
|
0.00001
|
GRCh37/hg19 19q13.2(chr19:38987608-38993136)
|
|
|
NC_000001.10:g.(?_154140413)_(154164494_?)dup
|
|
|
NC_000001.10:g.(?_154163642)_(154164494_?)del
|
|
|
NC_000001.11:g.(?_154191166)_(154192038_?)del
|
|
|
NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp)
|
rs3218714
|
|
NM_000257.4(MYH7):c.1208G>A (p.Arg403Gln)
|
rs121913624
|
|
NM_000257.4(MYH7):c.1432A>G (p.Ile478Val)
|
rs730880873
|
|
NM_000257.4(MYH7):c.1987C>A (p.Arg663Ser)
|
rs397516127
|
|
NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys)
|
rs397516127
|
|
NM_000257.4(MYH7):c.2011C>T (p.Arg671Cys)
|
rs727503263
|
|
NM_000257.4(MYH7):c.2053del (p.Asp685fs)
|
rs1566532860
|
|
NM_000257.4(MYH7):c.2192C>G (p.Pro731Arg)
|
rs1247313340
|
|
NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg)
|
rs121913632
|
|
NM_000257.4(MYH7):c.2224G>A (p.Ala742Thr)
|
rs769396106
|
|
NM_000257.4(MYH7):c.2551T>A (p.Ser851Thr)
|
rs2138665874
|
|
NM_000257.4(MYH7):c.2582A>G (p.Glu861Gly)
|
rs1236517740
|
|
NM_000257.4(MYH7):c.2593A>G (p.Lys865Glu)
|
rs730880749
|
|
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys)
|
rs138049878
|
|
NM_000257.4(MYH7):c.2631G>T (p.Met877Ile)
|
rs1060505018
|
|
NM_000257.4(MYH7):c.2731A>T (p.Asn911Tyr)
|
rs1566530777
|
|
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys)
|
rs121913628
|
|
NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln)
|
rs397516171
|
|
NM_000257.4(MYH7):c.2819A>T (p.Lys940Met)
|
rs1892589863
|
|
NM_000257.4(MYH7):c.2843C>T (p.Ser948Leu)
|
rs1350140484
|
|
NM_000257.4(MYH7):c.2923-6C>A
|
rs587781082
|
|
NM_000257.4(MYH7):c.2923G>A (p.Val975Met)
|
rs1892576769
|
|
NM_000257.4(MYH7):c.3013C>G (p.Gln1005Glu)
|
rs1892572355
|
|
NM_000257.4(MYH7):c.3107G>A (p.Gly1036Glu)
|
rs1000681552
|
|
NM_000257.4(MYH7):c.3134G>T (p.Arg1045Leu)
|
rs397516178
|
|
NM_000257.4(MYH7):c.3137T>G (p.Met1046Arg)
|
rs763760498
|
|
NM_000257.4(MYH7):c.3177G>T (p.Leu1059=)
|
rs746453011
|
|
NM_000257.4(MYH7):c.3184A>T (p.Thr1062Ser)
|
rs1555337299
|
|
NM_000257.4(MYH7):c.3229G>T (p.Asp1077Tyr)
|
rs759256990
|
|
NM_000257.4(MYH7):c.3237G>C (p.Arg1079=)
|
rs1272236852
|
|
NM_000257.4(MYH7):c.3294G>T (p.Gln1098His)
|
rs375323916
|
|
NM_000257.4(MYH7):c.3324C>T (p.Leu1108=)
|
rs933857323
|
|
NM_000257.4(MYH7):c.3337-2_3337delinsCAGA
|
rs1892420744
|
|
NM_000257.4(MYH7):c.341T>C (p.Ile114Thr)
|
rs730880833
|
|
NM_000257.4(MYH7):c.3620T>A (p.Ile1207Asn)
|
rs730880780
|
|
NM_000257.4(MYH7):c.3711G>C (p.Gln1237His)
|
rs1361182615
|
|
NM_000257.4(MYH7):c.3942C>T (p.Asp1314=)
|
rs921429381
|
|
NM_000257.4(MYH7):c.396G>T (p.Pro132=)
|
rs138932714
|
|
NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys)
|
rs141764279
|
|
NM_000257.4(MYH7):c.4030C>T (p.Arg1344Trp)
|
rs727504352
|
|
NM_000257.4(MYH7):c.4188G>T (p.Arg1396=)
|
rs200852418
|
|
NM_000257.4(MYH7):c.4251C>G (p.Thr1417=)
|
rs763934978
|
|
NM_000257.4(MYH7):c.4461C>G (p.Ala1487=)
|
rs2138645345
|
|
NM_000257.4(MYH7):c.4498C>T (p.Arg1500Trp)
|
rs45544633
|
|
NM_000257.4(MYH7):c.4567A>G (p.Ile1523Val)
|
rs1555336580
|
|
NM_000257.4(MYH7):c.4631T>C (p.Leu1544Pro)
|
rs1892234748
|
|
NM_000257.4(MYH7):c.4643A>T (p.Glu1548Val)
|
rs730880804
|
|
NM_000257.4(MYH7):c.4644+5G>C
|
rs730880797
|
|
NM_000257.4(MYH7):c.4729G>A (p.Ala1577Thr)
|
rs1892202753
|
|
NM_000257.4(MYH7):c.4756G>A (p.Ala1586Thr)
|
rs1595073523
|
|
NM_000257.4(MYH7):c.4819A>G (p.Ser1607Gly)
|
rs1892196940
|
|
NM_000257.4(MYH7):c.4834C>G (p.Leu1612Val)
|
rs397516229
|
|
NM_000257.4(MYH7):c.4901G>A (p.Arg1634His)
|
rs545875689
|
|
NM_000257.4(MYH7):c.4953+13A>T
|
rs373509029
|
|
NM_000257.4(MYH7):c.4953+4C>T
|
rs933520031
|
|
NM_000257.4(MYH7):c.4979C>A (p.Ala1660Glu)
|
rs1006534868
|
|
NM_000257.4(MYH7):c.5177AGA[3] (p.Lys1729del)
|
rs367543052
|
|
NM_000257.4(MYH7):c.5192A>T (p.Asp1731Val)
|
rs397516240
|
|
NM_000257.4(MYH7):c.5333A>C (p.His1778Pro)
|
rs1892139406
|
|
NM_000257.4(MYH7):c.5458C>G (p.Arg1820Gly)
|
rs145734640
|
|
NM_000257.4(MYH7):c.5458C>T (p.Arg1820Trp)
|
rs145734640
|
|
NM_000257.4(MYH7):c.5470_5471delinsGG (p.Asn1824Gly)
|
rs1595071680
|
|
NM_000257.4(MYH7):c.5494C>T (p.Arg1832Cys)
|
rs201865159
|
|
NM_000257.4(MYH7):c.5533C>A (p.Arg1845=)
|
rs28933098
|
|
NM_000257.4(MYH7):c.5560-2A>C
|
rs1566521710
|
|
NM_000257.4(MYH7):c.5638C>T (p.Arg1880Cys)
|
rs1057522617
|
|
NM_000257.4(MYH7):c.5672C>T (p.Thr1891Ile)
|
rs2138635423
|
|
NM_000257.4(MYH7):c.5807A>G (p.Ter1936Trp)
|
rs367543053
|
|
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn)
|
rs397516264
|
|
NM_000257.4(MYH7):c.745C>T (p.Arg249Ter)
|
rs730880852
|
|
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln)
|
rs3218713
|
|
NM_000257.4(MYH7):c.80A>G (p.Gln27Arg)
|
rs878853843
|
|
NM_000257.4(MYH7):c.899T>C (p.Met300Thr)
|
rs1892892787
|
|
NM_000257.4(MYH7):c.936C>A (p.Phe312Leu)
|
rs771522982
|
|
NM_000257.4(MYH7):c.976G>A (p.Ala326Thr)
|
rs372731424
|
|
NM_000257.4(MYH7):c.985C>T (p.Leu329Phe)
|
rs1566536367
|
|
NM_000257.4(MYH7):c.9T>G (p.Asp3Glu)
|
rs1893043424
|
|
NM_000432.4(MYL2):c.431_432del (p.Pro144fs)
|
rs1566147422
|
|
NM_000432.4(MYL2):c.499T>C (p.Ter167Gln)
|
rs2071647433
|
|
NM_000540.2(RYR1):c.14970delG
|
rs1568613962
|
|
NM_000540.2(RYR1):c.[10348-6C>G;14524G>A]
|
|
|
NM_000540.2(RYR1):c.[14344G>A;14928C>G]
|
|
|
NM_000540.2(RYR1):c.[14524G>A];[2029C>T]
|
|
|
NM_000540.2(RYR1):c.[14645C>T];[6721C>T]
|
|
|
NM_000540.2(RYR1):c.[5726_5727delAG;9242T>C]
|
|
|
NM_000540.3(RYR1):c.-61A>C
|
rs1192726936
|
|
NM_000540.3(RYR1):c.-65G>C
|
rs1204515719
|
|
NM_000540.3(RYR1):c.-69T>C
|
rs886054377
|
|
NM_000540.3(RYR1):c.-70dup
|
rs886054376
|
|
NM_000540.3(RYR1):c.-74A>C
|
rs886054375
|
|
NM_000540.3(RYR1):c.-81dup
|
rs886054374
|
|
NM_000540.3(RYR1):c.10009C>T (p.Arg3337Trp)
|
|
|
NM_000540.3(RYR1):c.10100A>G (p.Lys3367Arg)
|
rs118192126
|
|
NM_000540.3(RYR1):c.10188C>T (p.Asp3396=)
|
rs2229145
|
|
NM_000540.3(RYR1):c.10259+10G>A
|
rs187018043
|
|
NM_000540.3(RYR1):c.10263G>A (p.Ala3421=)
|
rs778171066
|
|
NM_000540.3(RYR1):c.10343C>T (p.Ser3448Phe)
|
rs193922836
|
|
NM_000540.3(RYR1):c.10347+1G>A
|
rs111436401
|
|
NM_000540.3(RYR1):c.10441-48G>A
|
|
|
NM_000540.3(RYR1):c.10466C>G (p.Ser3489Trp)
|
rs764263987
|
|
NM_000540.3(RYR1):c.10495C>T (p.Arg3499Trp)
|
rs147058802
|
|
NM_000540.3(RYR1):c.10561G>A (p.Gly3521Ser)
|
|
|
NM_000540.3(RYR1):c.10656T>C (p.Phe3552=)
|
rs1971495978
|
|
NM_000540.3(RYR1):c.10729C>G (p.Arg3577Gly)
|
rs538497899
|
|
NM_000540.3(RYR1):c.10749GGA[1] (p.Glu3584del)
|
|
|
NM_000540.3(RYR1):c.10803C>A (p.Ala3601=)
|
rs141542477
|
|
NM_000540.3(RYR1):c.10817T>C (p.Leu3606Pro)
|
rs118192127
|
|
NM_000540.3(RYR1):c.10824+13G>A
|
rs756468318
|
|
NM_000540.3(RYR1):c.10865del (p.Lys3622fs)
|
|
|
NM_000540.3(RYR1):c.10868T>G (p.Leu3623Arg)
|
|
|
NM_000540.3(RYR1):c.10910G>A (p.Arg3637His)
|
rs747528384
|
|
NM_000540.3(RYR1):c.10924T>G (p.Tyr3642Asp)
|
rs1971575594
|
|
NM_000540.3(RYR1):c.10958T>A (p.Phe3653Tyr)
|
rs2145723708
|
|
NM_000540.3(RYR1):c.10961T>C (p.Leu3654Pro)
|
|
|
NM_000540.3(RYR1):c.11014C>A (p.Arg3672Ser)
|
rs765145018
|
|
NM_000540.3(RYR1):c.11119C>T (p.Arg3707Cys)
|
rs781379239
|
|
NM_000540.3(RYR1):c.11120G>A (p.Arg3707His)
|
|
|
NM_000540.3(RYR1):c.11138A>G (p.Lys3713Arg)
|
rs1971614117
|
|
NM_000540.3(RYR1):c.1114AAG[2] (p.Lys374del)
|
rs745569223
|
|
NM_000540.3(RYR1):c.11292C>T (p.Tyr3764=)
|
rs886054401
|
|
NM_000540.3(RYR1):c.112G>A (p.Ala38Thr)
|
rs377558801
|
|
NM_000540.3(RYR1):c.11308C>G (p.His3770Asp)
|
|
|
NM_000540.3(RYR1):c.11623G>A (p.Ala3875Thr)
|
rs764309886
|
|
NM_000540.3(RYR1):c.11687A>T (p.Asn3896Ile)
|
rs1555793251
|
|
NM_000540.3(RYR1):c.11715G>C (p.Gln3905His)
|
|
|
NM_000540.3(RYR1):c.11761T>C (p.Tyr3921His)
|
|
|
NM_000540.3(RYR1):c.11819A>G (p.Asp3940Gly)
|
rs1972296147
|
|
NM_000540.3(RYR1):c.11905C>A (p.Gln3969Lys)
|
rs748748397
|
|
NM_000540.3(RYR1):c.11907+8G>A
|
rs886054402
|
|
NM_000540.3(RYR1):c.119G>C (p.Gly40Ala)
|
rs2145320724
|
|
NM_000540.3(RYR1):c.12012G>A (p.Gln4004=)
|
|
|
NM_000540.3(RYR1):c.12013-18C>A
|
rs377516769
|
|
NM_000540.3(RYR1):c.1202G>T (p.Arg401Leu)
|
rs193922766
|
|
NM_000540.3(RYR1):c.12047T>C (p.Leu4016Pro)
|
rs1972430121
|
|
NM_000540.3(RYR1):c.1205T>C (p.Met402Thr)
|
rs118192117
|
|
NM_000540.3(RYR1):c.12063_12064dup (p.Met4022fs)
|
rs1419938249
|
|
NM_000540.3(RYR1):c.12083C>T (p.Ser4028Leu)
|
rs794728696
|
|
NM_000540.3(RYR1):c.12084G>T (p.Ser4028=)
|
rs571477269
|
|
NM_000540.3(RYR1):c.12094+4A>G
|
rs1972431144
|
|
NM_000540.3(RYR1):c.1209C>G (p.Ile403Met)
|
rs118192116
|
|
NM_000540.3(RYR1):c.12218_12219delinsTA (p.Ser4073Leu)
|
rs1568562966
|
|
NM_000540.3(RYR1):c.12319del (p.Ile4107fs)
|
rs754572007
|
|
NM_000540.3(RYR1):c.12349_12350delinsAT (p.Asp4117Ile)
|
rs1568575693
|
|
NM_000540.3(RYR1):c.12373G>A (p.Glu4125Lys)
|
rs1973119741
|
|
NM_000540.3(RYR1):c.12443A>C (p.Asn4148Thr)
|
rs1213878810
|
|
NM_000540.3(RYR1):c.12499G>T (p.Glu4167Ter)
|
rs772494345
|
|
NM_000540.3(RYR1):c.12544_12570del (p.Ile4182_Glu4190del)
|
rs1238215145
|
|
NM_000540.3(RYR1):c.12568_12576del (p.Glu4190_Ile4192del)
|
rs1176364208
|
|
NM_000540.3(RYR1):c.12585G>T (p.Glu4195Asp)
|
rs982601268
|
|
NM_000540.3(RYR1):c.12590_12591del (p.Ile4196_Ser4197insTer)
|
|
|
NM_000540.3(RYR1):c.12599A>G (p.Asn4200Ser)
|
rs199660276
|
|
NM_000540.3(RYR1):c.125G>A (p.Gly42Asp)
|
rs1972639264
|
|
NM_000540.3(RYR1):c.12619C>A (p.Pro4207Thr)
|
rs886054403
|
|
NM_000540.3(RYR1):c.12640_12648del (p.Arg4214_Phe4216del)
|
rs118192165
|
|
NM_000540.3(RYR1):c.12739_12750del (p.Ala4247_Ile4250del)
|
rs2145843330
|
|
NM_000540.3(RYR1):c.12754G>C (p.Glu4252Gln)
|
rs1973328675
|
|
NM_000540.3(RYR1):c.12779ACGAGG[1] (p.4260DE[1])
|
rs746833347
|
|
NM_000540.3(RYR1):c.12779ACGAGG[3] (p.4260DE[3])
|
rs746833347
|
|
NM_000540.3(RYR1):c.12787G>A (p.Glu4263Lys)
|
rs1471120810
|
|
NM_000540.3(RYR1):c.12803_12817del (p.Ala4268_Ala4272del)
|
rs938670458
|
|
NM_000540.3(RYR1):c.1280C>T (p.Ser427Leu)
|
rs118192118
|
|
NM_000540.3(RYR1):c.12842_12859dup (p.Gly4281_Ala4286dup)
|
rs1339923680
|
|
NM_000540.3(RYR1):c.12846C>T (p.Leu4282=)
|
rs1184700540
|
|
NM_000540.3(RYR1):c.12853_12864dup (p.Thr4285_Thr4288dup)
|
rs1599634685
|
|
NM_000540.3(RYR1):c.12860_12869delinsT (p.Ala4287_Ala4290delinsVal)
|
rs796065337
|
|
NM_000540.3(RYR1):c.12889G>C (p.Val4297Leu)
|
rs1973345393
|
|
NM_000540.3(RYR1):c.128A>C (p.Asn43Thr)
|
|
|
NM_000540.3(RYR1):c.12907C>T (p.Arg4303Trp)
|
rs1027792397
|
|
NM_000540.3(RYR1):c.12951GCGGCGGCT[1] (p.4318RRL[1])
|
rs193922846
|
|
NM_000540.3(RYR1):c.12951GCGGCGGCT[3] (p.4318RRL[3])
|
rs193922846
|
|
NM_000540.3(RYR1):c.12954G>A (p.Arg4318=)
|
rs886054405
|
|
NM_000540.3(RYR1):c.12955C>T (p.Arg4319Trp)
|
rs1973350586
|
|
NM_000540.3(RYR1):c.12978del (p.Glu4327fs)
|
rs1568582893
|
|
NM_000540.3(RYR1):c.12986C>A (p.Ala4329Asp)
|
rs118192129
|
|
NM_000540.3(RYR1):c.12990C>T (p.Thr4330=)
|
rs184450380
|
|
NM_000540.3(RYR1):c.13013_13032del (p.Ala4338fs)
|
rs193922856
|
|
NM_000540.3(RYR1):c.13022C>G (p.Thr4341Arg)
|
rs752855919
|
|
NM_000540.3(RYR1):c.13027G>A (p.Ala4343Thr)
|
rs1204041410
|
|
NM_000540.3(RYR1):c.13032_13040dup (p.4343AGA[3])
|
rs1036726331
|
|
NM_000540.3(RYR1):c.13038T>C (p.Ala4346=)
|
rs758223017
|
|
NM_000540.3(RYR1):c.13041_13066del (p.Ala4348fs)
|
|
|
NM_000540.3(RYR1):c.13044G>A (p.Ala4348=)
|
rs794727985
|
|
NM_000540.3(RYR1):c.13060G>A (p.Ala4354Thr)
|
rs1214553487
|
|
NM_000540.3(RYR1):c.13091G>C (p.Gly4364Ala)
|
rs1973361809
|
|
NM_000540.3(RYR1):c.130C>T (p.Arg44Cys)
|
rs193922748
|
|
NM_000540.3(RYR1):c.13104G>A (p.Val4368=)
|
rs1357186643
|
|
NM_000540.3(RYR1):c.13128G>A (p.Val4376=)
|
rs886054406
|
|
NM_000540.3(RYR1):c.13145G>A (p.Gly4382Asp)
|
rs1973365556
|
|
NM_000540.3(RYR1):c.13168G>A (p.Glu4390Lys)
|
rs1413644550
|
|
NM_000540.3(RYR1):c.13191C>T (p.Ala4397=)
|
rs543458339
|
|
NM_000540.3(RYR1):c.13192G>A (p.Gly4398Arg)
|
rs1472582325
|
|
NM_000540.3(RYR1):c.13201G>A (p.Gly4401Arg)
|
rs1183376732
|
|
NM_000540.3(RYR1):c.13279C>T (p.His4427Tyr)
|
rs1973378079
|
|
NM_000540.3(RYR1):c.13281C>G (p.His4427Gln)
|
rs1396461166
|
|
NM_000540.3(RYR1):c.13331_13351dup (p.Gly4444_Gly4450dup)
|
rs1358102336
|
|
NM_000540.3(RYR1):c.13342C>T (p.Pro4448Ser)
|
rs886054407
|
|
NM_000540.3(RYR1):c.13352C>A (p.Ala4451Asp)
|
rs886054408
|
|
NM_000540.3(RYR1):c.13359_13364dup (p.Leu4454_Gly4455dup)
|
rs886054409
|
|
NM_000540.3(RYR1):c.13409G>T (p.Gly4470Val)
|
rs1261297305
|
|
NM_000540.3(RYR1):c.13437+14C>A
|
rs771599721
|
|
NM_000540.3(RYR1):c.13437+14C>T
|
rs771599721
|
|
NM_000540.3(RYR1):c.13467AGAGCC[3] (p.4489PE[6])
|
rs751816707
|
|
NM_000540.3(RYR1):c.13480G>T (p.Glu4494Ter)
|
rs143849895
|
|
NM_000540.3(RYR1):c.1349A>G (p.Tyr450Cys)
|
rs1967156624
|
|
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His)
|
rs150396398
|
|
NM_000540.3(RYR1):c.13551C>T (p.Pro4517=)
|
rs886054410
|
|
NM_000540.3(RYR1):c.13565C>A (p.Pro4522His)
|
rs145167688
|
|
NM_000540.3(RYR1):c.13565C>G (p.Pro4522Arg)
|
rs145167688
|
|
NM_000540.3(RYR1):c.13579C>T (p.Pro4527Ser)
|
rs1049222611
|
|
NM_000540.3(RYR1):c.13616G>A (p.Gly4539Asp)
|
rs1599641292
|
|
NM_000540.3(RYR1):c.13628G>C (p.Gly4543Ala)
|
rs200002274
|
|
NM_000540.3(RYR1):c.13680T>C (p.Phe4560=)
|
rs377664510
|
|
NM_000540.3(RYR1):c.13690C>T (p.Arg4564Trp)
|
rs753208767
|
|
NM_000540.3(RYR1):c.13699G>T (p.Ala4567Ser)
|
rs371441593
|
|
NM_000540.3(RYR1):c.13703T>C (p.Leu4568Pro)
|
rs118192131
|
|
NM_000540.3(RYR1):c.13746+4C>G
|
rs1973676634
|
|
NM_000540.3(RYR1):c.13762C>T (p.Pro4588Ser)
|
rs2145869414
|
|
NM_000540.3(RYR1):c.13858G>A (p.Ala4620Thr)
|
|
|
NM_000540.3(RYR1):c.13891T>A (p.Tyr4631Asn)
|
rs118192132
|
|
NM_000540.3(RYR1):c.13892A>C (p.Tyr4631Ser)
|
rs1568593922
|
|
NM_000540.3(RYR1):c.13900G>A (p.Glu4634Lys)
|
rs118192133
|
|
NM_000540.3(RYR1):c.13904A>G (p.Glu4635Gly)
|
rs1568593984
|
|
NM_000540.3(RYR1):c.13909A>G (p.Thr4637Ala)
|
rs118192166
|
|
NM_000540.3(RYR1):c.13910C>T (p.Thr4637Ile)
|
rs118192134
|
|
NM_000540.3(RYR1):c.13912G>A (p.Gly4638Ser)
|
rs118192136
|
|
NM_000540.3(RYR1):c.13913G>A (p.Gly4638Asp)
|
rs118192135
|
|
NM_000540.3(RYR1):c.13949T>C (p.Leu4650Pro)
|
rs118192138
|
|
NM_000540.3(RYR1):c.13952A>C (p.His4651Pro)
|
rs118192139
|
|
NM_000540.3(RYR1):c.14104T>C (p.Trp4702Arg)
|
rs2145874187
|
|
NM_000540.3(RYR1):c.14173G>C (p.Val4725Leu)
|
rs1049117716
|
|
NM_000540.3(RYR1):c.14200G>A (p.Gly4734Arg)
|
rs1456212776
|
|
NM_000540.3(RYR1):c.14210G>A (p.Arg4737Gln)
|
rs193922868
|
|
NM_000540.3(RYR1):c.14256A>C (p.Thr4752=)
|
rs1468571
|
|
NM_000540.3(RYR1):c.14288C>A (p.Pro4763Gln)
|
rs1974035851
|
|
NM_000540.3(RYR1):c.14291G>A (p.Gly4764Glu)
|
rs1974036074
|
|
NM_000540.3(RYR1):c.14304-6C>A
|
rs794728693
|
|
NM_000540.3(RYR1):c.14364+1G>T
|
rs1974046221
|
|
NM_000540.3(RYR1):c.14365-2A>T
|
rs193922870
|
|
NM_000540.3(RYR1):c.14378T>C (p.Leu4793Pro)
|
rs118192179
|
|
NM_000540.3(RYR1):c.14387A>G (p.Tyr4796Cys)
|
rs118192167
|
|
NM_000540.3(RYR1):c.1438G>A (p.Glu480Lys)
|
rs878854375
|
|
NM_000540.3(RYR1):c.1440+13C>T
|
rs774459267
|
|
NM_000540.3(RYR1):c.1440+2T>G
|
rs1555767403
|
|
NM_000540.3(RYR1):c.1441-12T>C
|
rs760987340
|
|
NM_000540.3(RYR1):c.14411A>G (p.His4804Arg)
|
rs1568604308
|
|
NM_000540.3(RYR1):c.14416A>G (p.Asn4806Asp)
|
rs886039586
|
|
NM_000540.3(RYR1):c.14423T>A (p.Phe4808Tyr)
|
rs1274780855
|
|
NM_000540.3(RYR1):c.14438A>G (p.His4813Arg)
|
|
|
NM_000540.3(RYR1):c.14440C>T (p.Leu4814Phe)
|
rs118192142
|
|
NM_000540.3(RYR1):c.14447A>G (p.Asp4816Gly)
|
rs1974129338
|
|
NM_000540.3(RYR1):c.14473C>T (p.Arg4825Cys)
|
rs118192180
|
|
NM_000540.3(RYR1):c.14488T>C (p.Ser4830Pro)
|
|
|
NM_000540.3(RYR1):c.14537C>T (p.Ala4846Val)
|
rs118192143
|
|
NM_000540.3(RYR1):c.14542G>C (p.Val4848Leu)
|
rs2145896441
|
|
NM_000540.3(RYR1):c.14572A>G (p.Asn4858Asp)
|
rs118192144
|
|
NM_000540.3(RYR1):c.14581C>T (p.Arg4861Cys)
|
rs118192181
|
|
NM_000540.3(RYR1):c.14582G>A (p.Arg4861His)
|
rs63749869
|
|
NM_000540.3(RYR1):c.14587_14607del (p.Phe4863_Asp4869del)
|
rs118192169
|
|
NM_000540.3(RYR1):c.14591A>C (p.Tyr4864Ser)
|
rs118192146
|
|
NM_000540.3(RYR1):c.14591A>G (p.Tyr4864Cys)
|
rs118192146
|
|
NM_000540.3(RYR1):c.14592CAA[1] (p.Asn4865del)
|
rs2145896801
|
|
NM_000540.3(RYR1):c.14594A>G (p.Asn4865Ser)
|
|
|
NM_000540.3(RYR1):c.14596A>G (p.Lys4866Glu)
|
|
|
NM_000540.3(RYR1):c.14599A>G (p.Ser4867Gly)
|
|
|
NM_000540.3(RYR1):c.14600G>A (p.Ser4867Asn)
|
rs587784373
|
|
NM_000540.3(RYR1):c.1460T>C (p.Leu487Pro)
|
rs1008860336
|
|
NM_000540.3(RYR1):c.14624T>A (p.Met4875Lys)
|
|
|
NM_000540.3(RYR1):c.14646G>A (p.Thr4882=)
|
rs536148030
|
|
NM_000540.3(RYR1):c.14647-3C>G
|
rs1974401494
|
|
NM_000540.3(RYR1):c.14650T>C (p.Tyr4884His)
|
rs2145912840
|
|
NM_000540.3(RYR1):c.14659C>T (p.His4887Tyr)
|
rs118192147
|
|
NM_000540.3(RYR1):c.14667C>A (p.Tyr4889Ter)
|
rs193922887
|
|
NM_000540.3(RYR1):c.14671G>C (p.Gly4891Arg)
|
rs118192149
|
|
NM_000540.3(RYR1):c.14677C>T (p.Arg4893Trp)
|
rs118192150
|
|
NM_000540.3(RYR1):c.14678G>A (p.Arg4893Gln)
|
rs118192151
|
|
NM_000540.3(RYR1):c.14678G>C (p.Arg4893Pro)
|
rs118192151
|
|
NM_000540.3(RYR1):c.14690G>T (p.Gly4897Val)
|
rs118192148
|
|
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr)
|
rs118192170
|
|
NM_000540.3(RYR1):c.14696G>A (p.Gly4899Glu)
|
rs118192183
|
|
NM_000540.3(RYR1):c.14717C>T (p.Ala4906Val)
|
rs118192153
|
|
NM_000540.3(RYR1):c.14740A>G (p.Arg4914Gly)
|
rs118192184
|
|
NM_000540.3(RYR1):c.14741G>C (p.Arg4914Thr)
|
rs118192154
|
|
NM_000540.3(RYR1):c.1474C>T (p.Arg492Cys)
|
rs199826952
|
|
NM_000540.3(RYR1):c.14759C>A (p.Thr4920Asn)
|
rs118192155
|
|
NM_000540.3(RYR1):c.14761TTC[3] (p.Phe4924del)
|
rs1064794572
|
|
NM_000540.3(RYR1):c.14761_14762delinsAC (p.Phe4921Thr)
|
rs118192171
|
|
NM_000540.3(RYR1):c.14762T>C (p.Phe4921Ser)
|
rs118192156
|
|
NM_000540.3(RYR1):c.14773G>A (p.Val4925Ile)
|
rs959737076
|
|
NM_000540.3(RYR1):c.14773GTCATC[1] (p.4925VI[1])
|
rs193922893
|
|
NM_000540.3(RYR1):c.14804G>A (p.Gly4935Asp)
|
|
|
NM_000540.3(RYR1):c.14811C>G (p.Ile4937Met)
|
rs2145917373
|
|
NM_000540.3(RYR1):c.14814C>G (p.Ile4938Met)
|
rs118192159
|
|
NM_000540.3(RYR1):c.1492A>T (p.Thr498Ser)
|
|
|
NM_000540.3(RYR1):c.14981T>C (p.Met4994Thr)
|
rs886054412
|
|
NM_000540.3(RYR1):c.15016G>A (p.Gly5006Ser)
|
rs1568614042
|
|
NM_000540.3(RYR1):c.15036G>T (p.Trp5012Cys)
|
|
|
NM_000540.3(RYR1):c.15047_15048del (p.Gln5016fs)
|
rs1555806119
|
|
NM_000540.3(RYR1):c.1534G>A (p.Glu512Lys)
|
rs118192119
|
|
NM_000540.3(RYR1):c.1561C>T (p.Leu521Phe)
|
rs750009277
|
|
NM_000540.3(RYR1):c.1565A>C (p.Tyr522Ser)
|
rs118192162
|
|
NM_000540.3(RYR1):c.161C>A (p.Ala54Glu)
|
rs1032364286
|
|
NM_000540.3(RYR1):c.1654C>T (p.Arg552Trp)
|
rs193922770
|
|
NM_000540.3(RYR1):c.1672+29G>C
|
rs2288889
|
|
NM_000540.3(RYR1):c.1675dup (p.Ile559fs)
|
rs1475149579
|
|
NM_000540.3(RYR1):c.1739_1742dup (p.His581fs)
|
rs193922771
|
|
NM_000540.3(RYR1):c.177dup (p.Asp60fs)
|
rs756326114
|
|
NM_000540.3(RYR1):c.1808G>A (p.Cys603Tyr)
|
rs886054380
|
|
NM_000540.3(RYR1):c.1841G>T (p.Arg614Leu)
|
rs193922772
|
|
NM_000540.3(RYR1):c.1888C>G (p.Leu630Val)
|
rs2145406736
|
|
NM_000540.3(RYR1):c.1937A>G (p.Asn646Ser)
|
rs1316726339
|
|
NM_000540.3(RYR1):c.2004C>T (p.Asp668=)
|
rs78835441
|
|
NM_000540.3(RYR1):c.2029C>T (p.Gln677Ter)
|
rs878854365
|
|
NM_000540.3(RYR1):c.2044C>T (p.Arg682Trp)
|
rs776252106
|
|
NM_000540.3(RYR1):c.208C>T (p.Gln70Ter)
|
rs1456276440
|
|
NM_000540.3(RYR1):c.2097_2123del (p.Glu699_Gly707del)
|
rs876661306
|
|
NM_000540.3(RYR1):c.212C>A (p.Ser71Tyr)
|
rs118192113
|
|
NM_000540.3(RYR1):c.2164A>G (p.Thr722Ala)
|
rs1183569355
|
|
NM_000540.3(RYR1):c.2168-1G>A
|
|
|
NM_000540.3(RYR1):c.2287G>A (p.Val763Met)
|
rs369947687
|
|
NM_000540.3(RYR1):c.2290C>T (p.Gln764Ter)
|
rs371455345
|
|
NM_000540.3(RYR1):c.2338dup (p.Val780fs)
|
rs1967603354
|
|
NM_000540.3(RYR1):c.2384G>A (p.Arg795His)
|
rs201635585
|
|
NM_000540.3(RYR1):c.2411C>T (p.Pro804Leu)
|
rs1057524519
|
|
NM_000540.3(RYR1):c.2427_2446dup (p.Pro816fs)
|
rs1460246826
|
|
NM_000540.3(RYR1):c.2449C>G (p.Arg817Gly)
|
rs150633775
|
|
NM_000540.3(RYR1):c.24C>A (p.Asp8Glu)
|
rs1331891798
|
|
NM_000540.3(RYR1):c.2505del (p.Pro836fs)
|
rs797045932
|
|
NM_000540.3(RYR1):c.251C>G (p.Thr84Arg)
|
rs186983396
|
|
NM_000540.3(RYR1):c.2618T>C (p.Leu873Pro)
|
rs1555772266
|
|
NM_000540.3(RYR1):c.2633A>G (p.His878Arg)
|
|
|
NM_000540.3(RYR1):c.2654G>T (p.Arg885Leu)
|
rs370634440
|
|
NM_000540.3(RYR1):c.2682G>A (p.Pro894=)
|
rs919322708
|
|
NM_000540.3(RYR1):c.2682G>C (p.Pro894=)
|
rs919322708
|
|
NM_000540.3(RYR1):c.2697C>A (p.Asn899Lys)
|
rs201401814
|
|
NM_000540.3(RYR1):c.2753A>G (p.Asn918Ser)
|
|
|
NM_000540.3(RYR1):c.2792T>C (p.Leu931Pro)
|
rs1600706153
|
|
NM_000540.3(RYR1):c.2923C>T (p.Arg975Trp)
|
rs371278145
|
|
NM_000540.3(RYR1):c.2984G>A (p.Trp995Ter)
|
rs1440262870
|
|
NM_000540.3(RYR1):c.3052C>G (p.Pro1018Ala)
|
rs143331857
|
|
NM_000540.3(RYR1):c.3094C>G (p.Arg1032Gly)
|
rs374477216
|
|
NM_000540.3(RYR1):c.3124G>A (p.Val1042Met)
|
rs540088339
|
|
NM_000540.3(RYR1):c.3178+587A>G
|
|
|
NM_000540.3(RYR1):c.3291C>T (p.Gly1097=)
|
rs1234999215
|
|
NM_000540.3(RYR1):c.334C>T (p.His112Tyr)
|
|
|
NM_000540.3(RYR1):c.3410C>T (p.Pro1137Leu)
|
rs1225931762
|
|
NM_000540.3(RYR1):c.3420C>G (p.Arg1140=)
|
rs201599911
|
|
NM_000540.3(RYR1):c.3420C>T (p.Arg1140=)
|
rs201599911
|
|
NM_000540.3(RYR1):c.3485C>T (p.Thr1162Ile)
|
rs1280346095
|
|
NM_000540.3(RYR1):c.3494G>A (p.Gly1165Asp)
|
rs559581937
|
|
NM_000540.3(RYR1):c.3498G>C (p.Glu1166Asp)
|
rs546323484
|
|
NM_000540.3(RYR1):c.3505A>G (p.Met1169Val)
|
rs139069946
|
|
NM_000540.3(RYR1):c.3556G>A (p.Gly1186Ser)
|
rs1568465251
|
|
NM_000540.3(RYR1):c.3658G>A (p.Glu1220Lys)
|
rs757687986
|
|
NM_000540.3(RYR1):c.3695C>T (p.Pro1232Leu)
|
rs1363931971
|
|
NM_000540.3(RYR1):c.3773G>T (p.Arg1258Leu)
|
rs886054381
|
|
NM_000540.3(RYR1):c.3820C>G (p.Arg1274Gly)
|
rs1425575552
|
|
NM_000540.3(RYR1):c.3823A>G (p.Thr1275Ala)
|
rs1568469574
|
|
NM_000540.3(RYR1):c.3880G>T (p.Val1294Phe)
|
rs1968540857
|
|
NM_000540.3(RYR1):c.3946C>T (p.Pro1316Ser)
|
rs200894780
|
|
NM_000540.3(RYR1):c.3964_3982dup (p.Asp1328fs)
|
rs1281542312
|
|
NM_000540.3(RYR1):c.4066G>A (p.Ala1356Thr)
|
rs933347966
|
|
NM_000540.3(RYR1):c.4090G>T (p.Gly1364Trp)
|
rs35869497
|
|
NM_000540.3(RYR1):c.4160+8G>T
|
rs886054383
|
|
NM_000540.3(RYR1):c.4182G>T (p.Lys1394Asn)
|
rs886054384
|
|
NM_000540.3(RYR1):c.4266C>T (p.Asp1422=)
|
rs886054385
|
|
NM_000540.3(RYR1):c.4269C>G (p.Pro1423=)
|
rs2229141
|
|
NM_000540.3(RYR1):c.4269C>T (p.Pro1423=)
|
rs2229141
|
|
NM_000540.3(RYR1):c.4322G>T (p.Gly1441Val)
|
rs1968805897
|
|
NM_000540.3(RYR1):c.4342T>C (p.Trp1448Arg)
|
rs886054386
|
|
NM_000540.3(RYR1):c.4454G>A (p.Ser1485Asn)
|
rs1317036540
|
|
NM_000540.3(RYR1):c.4481T>C (p.Val1494Ala)
|
rs767928113
|
|
NM_000540.3(RYR1):c.4496_4497del (p.Phe1499fs)
|
rs1568476203
|
|
NM_000540.3(RYR1):c.4582T>A (p.Phe1528Ile)
|
|
|
NM_000540.3(RYR1):c.46-4G>A
|
rs201094741
|
|
NM_000540.3(RYR1):c.4837C>T (p.Gln1613Ter)
|
rs1332371891
|
|
NM_000540.3(RYR1):c.4878C>T (p.Ala1626=)
|
rs369466056
|
|
NM_000540.3(RYR1):c.487C>A (p.Arg163Ser)
|
rs118192161
|
|
NM_000540.3(RYR1):c.487C>T (p.Arg163Cys)
|
rs118192161
|
|
NM_000540.3(RYR1):c.5008C>T (p.Arg1670Cys)
|
rs1182258955
|
|
NM_000540.3(RYR1):c.5025G>C (p.Leu1675=)
|
rs886054388
|
|
NM_000540.3(RYR1):c.5055C>G (p.Cys1685Trp)
|
rs761393058
|
|
NM_000540.3(RYR1):c.5150T>G (p.Ile1717Ser)
|
rs1568484483
|
|
NM_000540.3(RYR1):c.5234C>G (p.Thr1745Arg)
|
rs377476955
|
|
NM_000540.3(RYR1):c.5288C>T (p.Pro1763Leu)
|
rs1335007839
|
|
NM_000540.3(RYR1):c.5333C>A (p.Ser1778Ter)
|
rs367543055
|
|
NM_000540.3(RYR1):c.537+12C>A
|
rs779869638
|
|
NM_000540.3(RYR1):c.5438G>T (p.Arg1813Met)
|
rs886054389
|
|
NM_000540.3(RYR1):c.5460C>T (p.Arg1820=)
|
rs1193082244
|
|
NM_000540.3(RYR1):c.5495G>C (p.Gly1832Ala)
|
rs193922784
|
|
NM_000540.3(RYR1):c.5525T>C (p.Leu1842Pro)
|
rs886054390
|
|
NM_000540.3(RYR1):c.5584A>C (p.Ile1862Leu)
|
rs886054391
|
|
NM_000540.3(RYR1):c.5607G>T (p.Glu1869Asp)
|
rs1043076830
|
|
NM_000540.3(RYR1):c.5620G>A (p.Glu1874Lys)
|
rs1969440508
|
|
NM_000540.3(RYR1):c.5628GGA[2] (p.Glu1878del)
|
rs371047178
|
|
NM_000540.3(RYR1):c.5910G>A (p.Gln1970=)
|
rs1555780327
|
|
NM_000540.3(RYR1):c.5915A>T (p.Asn1972Ile)
|
rs1377668924
|
|
NM_000540.3(RYR1):c.5988C>T (p.Arg1996=)
|
rs193922787
|
|
NM_000540.3(RYR1):c.5989G>A (p.Glu1997Lys)
|
rs1366464512
|
|
NM_000540.3(RYR1):c.5G>C (p.Gly2Ala)
|
rs886054378
|
|
NM_000540.3(RYR1):c.6023T>C (p.Met2008Thr)
|
rs199947661
|
|
NM_000540.3(RYR1):c.6082C>G (p.Arg2028Gly)
|
rs773540275
|
|
NM_000540.3(RYR1):c.6104A>T (p.His2035Leu)
|
rs367543056
|
|
NM_000540.3(RYR1):c.6128-13T>G
|
rs1969594703
|
|
NM_000540.3(RYR1):c.6262G>A (p.Glu2088Lys)
|
rs587784378
|
|
NM_000540.3(RYR1):c.6272C>A (p.Pro2091His)
|
rs1555781055
|
|
NM_000540.3(RYR1):c.6284A>C (p.Gln2095Pro)
|
rs1369035565
|
|
NM_000540.3(RYR1):c.6304G>C (p.Val2102Leu)
|
rs770593660
|
|
NM_000540.3(RYR1):c.6304G>T (p.Val2102Leu)
|
rs770593660
|
|
NM_000540.3(RYR1):c.631+39dup
|
rs35018208
|
|
NM_000540.3(RYR1):c.6340C>A (p.Pro2114Thr)
|
|
|
NM_000540.3(RYR1):c.6353G>C (p.Arg2118Pro)
|
rs201649680
|
|
NM_000540.3(RYR1):c.640A>G (p.Thr214Ala)
|
rs769650157
|
|
NM_000540.3(RYR1):c.644G>A (p.Gly215Glu)
|
rs118192115
|
|
NM_000540.3(RYR1):c.6488G>A (p.Arg2163His)
|
rs118192163
|
|
NM_000540.3(RYR1):c.6500T>G (p.Ile2167Ser)
|
|
|
NM_000540.3(RYR1):c.6502G>A (p.Val2168Met)
|
rs118192176
|
|
NM_000540.3(RYR1):c.6517C>T (p.Gln2173Ter)
|
rs1486865637
|
|
NM_000540.3(RYR1):c.6599C>G (p.Ala2200Gly)
|
rs193922791
|
|
NM_000540.3(RYR1):c.6610C>T (p.His2204Tyr)
|
rs745432757
|
|
NM_000540.3(RYR1):c.663C>T (p.Leu221=)
|
rs761319979
|
|
NM_000540.3(RYR1):c.6796G>T (p.Gly2266Cys)
|
rs772803714
|
|
NM_000540.3(RYR1):c.6799A>G (p.Met2267Val)
|
rs886054393
|
|
NM_000540.3(RYR1):c.6805G>C (p.Gly2269Arg)
|
rs765088913
|
|
NM_000540.3(RYR1):c.6806dup (p.Ser2270fs)
|
rs886041380
|
|
NM_000540.3(RYR1):c.6811_6836del (p.Thr2271fs)
|
|
|
NM_000540.3(RYR1):c.6847A>C (p.Asn2283His)
|
rs118192121
|
|
NM_000540.3(RYR1):c.685T>C (p.Cys229Arg)
|
rs1600649879
|
|
NM_000540.3(RYR1):c.6995T>G (p.Leu2332Arg)
|
|
|
NM_000540.3(RYR1):c.7028-11C>G
|
rs369342449
|
|
NM_000540.3(RYR1):c.7039GAG[1] (p.Glu2348del)
|
rs121918596
|
|
NM_000540.3(RYR1):c.7053T>C (p.Asn2351=)
|
rs748167551
|
|
NM_000540.3(RYR1):c.7111G>A (p.Glu2371Lys)
|
rs1057518940
|
|
NM_000540.3(RYR1):c.7136C>A (p.Ala2379Asp)
|
rs886054394
|
|
NM_000540.3(RYR1):c.7140C>T (p.Ile2380=)
|
rs573431795
|
|
NM_000540.3(RYR1):c.7166A>G (p.Asp2389Gly)
|
|
|
NM_000540.3(RYR1):c.7215del (p.Phe2406fs)
|
rs1568501473
|
|
NM_000540.3(RYR1):c.7243C>G (p.Arg2415Gly)
|
rs368013861
|
|
NM_000540.3(RYR1):c.7291G>T (p.Asp2431Tyr)
|
rs193922810
|
|
NM_000540.3(RYR1):c.7304G>A (p.Arg2435His)
|
rs28933396
|
|
NM_000540.3(RYR1):c.7330C>T (p.Gln2444Ter)
|
rs1970064722
|
|
NM_000540.3(RYR1):c.7354C>T (p.Arg2452Trp)
|
rs118192124
|
|
NM_000540.3(RYR1):c.7355G>A (p.Arg2452Gln)
|
rs193922815
|
|
NM_000540.3(RYR1):c.7358T>C (p.Ile2453Thr)
|
rs118192123
|
|
NM_000540.3(RYR1):c.738T>G (p.Tyr246Ter)
|
rs367543054
|
|
NM_000540.3(RYR1):c.7426A>T (p.Ile2476Phe)
|
|
|
NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys)
|
rs118192178
|
|
NM_000540.3(RYR1):c.7584C>G (p.Pro2528=)
|
rs1465698
|
|
NM_000540.3(RYR1):c.7584C>T (p.Pro2528=)
|
rs1465698
|
|
NM_000540.3(RYR1):c.7614+1G>A
|
rs2145606794
|
|
NM_000540.3(RYR1):c.7635G>C (p.Glu2545Asp)
|
rs193922820
|
|
NM_000540.3(RYR1):c.7648C>G (p.Leu2550Val)
|
rs193922821
|
|
NM_000540.3(RYR1):c.7684A>G (p.Ile2562Val)
|
rs1359576805
|
|
NM_000540.3(RYR1):c.76A>C (p.Thr26Pro)
|
rs1972635177
|
|
NM_000540.3(RYR1):c.7723C>T (p.Arg2575Cys)
|
rs1970183094
|
|
NM_000540.3(RYR1):c.7729A>G (p.Ile2577Val)
|
rs567321458
|
|
NM_000540.3(RYR1):c.7743T>C (p.Ser2581=)
|
rs1477392994
|
|
NM_000540.3(RYR1):c.7787C>G (p.Thr2596Ser)
|
rs193922824
|
|
NM_000540.3(RYR1):c.7793C>G (p.Ala2598Gly)
|
rs770719689
|
|
NM_000540.3(RYR1):c.7835+1G>A
|
rs1057524858
|
|
NM_000540.3(RYR1):c.7836-1G>A
|
rs1568507354
|
|
NM_000540.3(RYR1):c.7836-3C>T
|
rs1345584460
|
|
NM_000540.3(RYR1):c.7836-6C>T
|
rs780269941
|
|
NM_000540.3(RYR1):c.7856T>C (p.Leu2619Pro)
|
rs1263237391
|
|
NM_000540.3(RYR1):c.7871G>C (p.Arg2624Pro)
|
|
|
NM_000540.3(RYR1):c.7874G>T (p.Arg2625Leu)
|
rs751301767
|
|
NM_000540.3(RYR1):c.7878G>C (p.Leu2626=)
|
rs148907377
|
|
NM_000540.3(RYR1):c.7880T>G (p.Val2627Gly)
|
rs747337318
|
|
NM_000540.3(RYR1):c.7888G>C (p.Val2630Leu)
|
rs193922825
|
|
NM_000540.3(RYR1):c.7927-7C>T
|
rs886054395
|
|
NM_000540.3(RYR1):c.7954dup (p.Trp2652fs)
|
rs1600842678
|
|
NM_000540.3(RYR1):c.7992C>G (p.Phe2664Leu)
|
rs150620191
|
|
NM_000540.3(RYR1):c.8042G>C (p.Gly2681Ala)
|
rs1970341837
|
|
NM_000540.3(RYR1):c.8068-29_8068-27del
|
rs796750554
|
|
NM_000540.3(RYR1):c.8118_8119inv (p.Ala2707Thr)
|
|
|
NM_000540.3(RYR1):c.8136dup (p.Asp2713fs)
|
rs761483896
|
|
NM_000540.3(RYR1):c.8159C>A (p.Ser2720Ter)
|
rs1568510406
|
|
NM_000540.3(RYR1):c.8196del (p.Gly2733fs)
|
rs1600844997
|
|
NM_000540.3(RYR1):c.8223G>C (p.Glu2741Asp)
|
rs1970371040
|
|
NM_000540.3(RYR1):c.8342_8343del (p.Ile2781fs)
|
rs758580075
|
|
NM_000540.3(RYR1):c.8382C>G (p.Tyr2794Ter)
|
rs146514343
|
|
NM_000540.3(RYR1):c.8446A>G (p.Met2816Val)
|
rs775492883
|
|
NM_000540.3(RYR1):c.8488GAG[2] (p.Glu2832del)
|
rs767722812
|
|
NM_000540.3(RYR1):c.8546A>G (p.Tyr2849Cys)
|
rs1970446266
|
|
NM_000540.3(RYR1):c.859G>A (p.Gly287Arg)
|
rs201292282
|
|
NM_000540.3(RYR1):c.8662C>T (p.Arg2888Trp)
|
rs1234488220
|
|
NM_000540.3(RYR1):c.874C>T (p.Leu292Phe)
|
rs1966901541
|
|
NM_000540.3(RYR1):c.8773G>A (p.Glu2925Lys)
|
rs2145638522
|
|
NM_000540.3(RYR1):c.8816G>A (p.Arg2939Lys)
|
rs118192125
|
|
NM_000540.3(RYR1):c.8843C>G (p.Ser2948Trp)
|
rs759514075
|
|
NM_000540.3(RYR1):c.8901G>A (p.Met2967Ile)
|
rs1970544424
|
|
NM_000540.3(RYR1):c.8929_8932+4delinsAAGCGG
|
rs1555786205
|
|
NM_000540.3(RYR1):c.8932+34dup
|
rs5828009
|
|
NM_000540.3(RYR1):c.8953C>T (p.Arg2985Ter)
|
|
|
NM_000540.3(RYR1):c.897G>C (p.Val299=)
|
rs76854339
|
|
NM_000540.3(RYR1):c.9000+1G>T
|
rs111364670
|
|
NM_000540.3(RYR1):c.9001-15C>A
|
rs372702492
|
|
NM_000540.3(RYR1):c.9007C>G (p.Leu3003Val)
|
rs1970687243
|
|
NM_000540.3(RYR1):c.9007C>T (p.Leu3003Phe)
|
rs1970687243
|
|
NM_000540.3(RYR1):c.9103G>C (p.Glu3035Gln)
|
rs1053579438
|
|
NM_000540.3(RYR1):c.9257A>T (p.Glu3086Val)
|
|
|
NM_000540.3(RYR1):c.9277C>T (p.Arg3093Cys)
|
rs1064797039
|
|
NM_000540.3(RYR1):c.9345del (p.Ser3116fs)
|
rs2145663047
|
|
NM_000540.3(RYR1):c.9356G>A (p.Arg3119His)
|
rs193922833
|
|
NM_000540.3(RYR1):c.9356G>T (p.Arg3119Leu)
|
rs193922833
|
|
NM_000540.3(RYR1):c.947G>A (p.Arg316His)
|
rs193922761
|
|
NM_000540.3(RYR1):c.9513T>C (p.Ser3171=)
|
rs1568524980
|
|
NM_000540.3(RYR1):c.9581T>C (p.Leu3194Pro)
|
rs1970955432
|
|
NM_000540.3(RYR1):c.958G>A (p.Glu320Lys)
|
rs1568440962
|
|
NM_000540.3(RYR1):c.9603G>A (p.Met3201Ile)
|
rs373611044
|
|
NM_000540.3(RYR1):c.9619G>A (p.Glu3207Lys)
|
rs2145677238
|
|
NM_000540.3(RYR1):c.9633C>A (p.Asn3211Lys)
|
rs978984063
|
|
NM_000540.3(RYR1):c.9718T>C (p.Cys3240Arg)
|
rs979989952
|
|
NM_000540.3(RYR1):c.9726C>T (p.Asp3242=)
|
rs1971019633
|
|
NM_000540.3(RYR1):c.9760G>A (p.Gly3254Arg)
|
|
|
NM_000540.3(RYR1):c.9784C>T (p.Arg3262Cys)
|
rs557030813
|
|
NM_000540.3(RYR1):c.9796A>T (p.Met3266Leu)
|
rs201588259
|
|
NM_000540.3(RYR1):c.97A>G (p.Lys33Glu)
|
rs193922746
|
|
NM_000540.3(RYR1):c.9846C>T (p.Pro3282=)
|
rs886054399
|
|
NM_000540.3(RYR1):c.985G>A (p.Asp329Asn)
|
rs1966919745
|
|
NM_000540.3(RYR1):c.9868G>A (p.Glu3290Lys)
|
rs112151058
|
|
NM_000540.3(RYR1):c.9885C>G (p.Ala3295=)
|
rs776468955
|
|
NM_000540.3(RYR1):c.9889C>T (p.Pro3297Ser)
|
rs2145682498
|
|
NM_000540.3(RYR1):c.9910T>C (p.Cys3304Arg)
|
|
|
NM_000540.3(RYR1):c.9970G>T (p.Val3324Phe)
|
rs761241693
|
|
NM_000540.3(RYR1):c.9978C>A (p.Asn3326Lys)
|
rs367543057
|
|
NM_000540.3(RYR1):c.[11941C>T;8342_8343del]
|
|
|
NM_000540.3(RYR1):c.[1834G>C];[2045G>A]
|
|
|
NM_001042723.1(RYR1):c.5140_5142del (p.Leu1714del)
|
rs1438501767
|
|
NM_001100.4(ACTA1):c.-66_-65delinsTC
|
rs386640096
|
|
NM_001100.4(ACTA1):c.1000C>T (p.Pro334Ser)
|
rs121909531
|
|
NM_001100.4(ACTA1):c.108C>T (p.Ile36=)
|
rs143948837
|
|
NM_001100.4(ACTA1):c.1113C>G (p.Ile371Met)
|
rs886046075
|
|
NM_001100.4(ACTA1):c.1128C>T (p.Cys376=)
|
rs1659932688
|
|
NM_001100.4(ACTA1):c.129+14T>C
|
rs886046076
|
|
NM_001100.4(ACTA1):c.143G>A (p.Gly48Asp)
|
rs367543049
|
|
NM_001100.4(ACTA1):c.143G>C (p.Gly48Ala)
|
|
|
NM_001100.4(ACTA1):c.16G>A (p.Glu6Lys)
|
rs367543048
|
|
NM_001100.4(ACTA1):c.1A>G (p.Met1Val)
|
rs1659988389
|
|
NM_001100.4(ACTA1):c.435C>A (p.Tyr145Ter)
|
rs371410845
|
|
NM_001100.4(ACTA1):c.453C>G (p.Thr151=)
|
rs76030344
|
|
NM_001100.4(ACTA1):c.480C>A (p.Gly160=)
|
rs1571893385
|
|
NM_001100.4(ACTA1):c.581_589del (p.Ile194_Glu197delinsLys)
|
rs1659962077
|
|
NM_001100.4(ACTA1):c.621G>C (p.Glu207Asp)
|
rs367543050
|
|
NM_001100.4(ACTA1):c.668T>C (p.Leu223Pro)
|
rs121909530
|
|
NM_001100.4(ACTA1):c.682G>T (p.Glu228Ter)
|
rs1558081664
|
|
NM_001100.4(ACTA1):c.727G>A (p.Glu243Lys)
|
rs367543051
|
|
NM_001100.4(ACTA1):c.809-13_809-12dup
|
rs201427429
|
|
NM_001100.4(ACTA1):c.809-13dup
|
rs201427429
|
|
NM_001100.4(ACTA1):c.809-14G>C
|
rs6673359
|
|
NM_001100.4(ACTA1):c.81C>T (p.Asp27=)
|
rs1553255533
|
|
NM_001100.4(ACTA1):c.880G>T (p.Asp294Tyr)
|
|
|
NM_001100.4(ACTA1):c.881A>T (p.Asp294Val)
|
rs121909529
|
|
NM_001100.4(ACTA1):c.966G>A (p.Leu322=)
|
rs765996798
|
|
NM_001278188.2(TPM3):c.69-3046CTGAGG[3]
|
|
|
NM_003289.4(TPM2):c.28A>T (p.Met10Leu)
|
rs1825152365
|
|
NM_003289.4(TPM2):c.564-20_564-19dup
|
rs3215700
|
|
NM_003289.4(TPM2):c.773-4_773-3dup
|
rs35401252
|
|
NM_020451.3(SELENON):c.-11_81del (p.Met1fs)
|
rs1557813850
|
|
NM_020451.3(SELENON):c.1112G>A (p.Gly371Asp)
|
rs745886248
|
|
NM_020451.3(SELENON):c.402_403+2del
|
rs773670891
|
|
NM_020451.3(SELENON):c.713dup (p.Asn238fs)
|
rs368104077
|
|
NM_020451.3(SELENON):c.827_829dup (p.Ala276_Cys277insSer)
|
rs797045950
|
|
NM_020451.3(SELENON):c.997_1000del (p.Val333fs)
|
rs886041686
|
|
NM_152263.4(TPM3):c.*1093T>C
|
rs886045311
|
|
NM_152263.4(TPM3):c.*1130C>T
|
rs143058197
|
|
NM_152263.4(TPM3):c.*1246_*1247dup
|
rs72189266
|
|
NM_152263.4(TPM3):c.*1247dup
|
rs72189266
|
|
NM_152263.4(TPM3):c.*1359G>T
|
rs563700738
|
|
NM_152263.4(TPM3):c.*1397A>G
|
rs1660988364
|
|
NM_152263.4(TPM3):c.*1964A>G
|
rs886045309
|
|
NM_152263.4(TPM3):c.*2035C>T
|
rs886045308
|
|
NM_152263.4(TPM3):c.*2130del
|
rs370257288
|
|
NM_152263.4(TPM3):c.*2147del
|
rs68185418
|
|
NM_152263.4(TPM3):c.*2295T>C
|
rs1261513379
|
|
NM_152263.4(TPM3):c.*2597G>T
|
rs886045305
|
|
NM_152263.4(TPM3):c.*2675T>C
|
rs886045304
|
|
NM_152263.4(TPM3):c.*2757C>G
|
rs897434039
|
|
NM_152263.4(TPM3):c.*2774G>C
|
rs886045303
|
|
NM_152263.4(TPM3):c.*3015G>A
|
rs1207872451
|
|
NM_152263.4(TPM3):c.*325G>A
|
rs886045315
|
|
NM_152263.4(TPM3):c.*3558G>A
|
rs886045302
|
|
NM_152263.4(TPM3):c.*3756dup
|
rs574252210
|
|
NM_152263.4(TPM3):c.*3807G>T
|
rs886045301
|
|
NM_152263.4(TPM3):c.*3872T>C
|
rs1571372689
|
|
NM_152263.4(TPM3):c.*4194G>A
|
rs886045300
|
|
NM_152263.4(TPM3):c.*41C>G
|
rs886045318
|
|
NM_152263.4(TPM3):c.*4423G>A
|
rs373468102
|
|
NM_152263.4(TPM3):c.*4574_*4578del
|
rs886045293
|
|
NM_152263.4(TPM3):c.*4636G>A
|
rs886045292
|
|
NM_152263.4(TPM3):c.*5028_*5029dup
|
rs886045291
|
|
NM_152263.4(TPM3):c.*5204C>T
|
rs1660513178
|
|
NM_152263.4(TPM3):c.*5239C>T
|
rs1020851805
|
|
NM_152263.4(TPM3):c.*5266T>G
|
rs143097126
|
|
NM_152263.4(TPM3):c.*5406A>G
|
rs1039422203
|
|
NM_152263.4(TPM3):c.*5549GT[1]
|
rs886045290
|
|
NM_152263.4(TPM3):c.*5572dup
|
rs58289686
|
|
NM_152263.4(TPM3):c.*5573GA[1]
|
rs886045288
|
|
NM_152263.4(TPM3):c.*5583C>T
|
rs886045286
|
|
NM_152263.4(TPM3):c.*5594G>T
|
rs550606876
|
|
NM_152263.4(TPM3):c.*5715C>T
|
rs527401847
|
|
NM_152263.4(TPM3):c.*5865A>G
|
rs1159409765
|
|
NM_152263.4(TPM3):c.*5870A>T
|
rs890715632
|
|
NM_152263.4(TPM3):c.*5926T>C
|
rs886045285
|
|
NM_152263.4(TPM3):c.*61C>A
|
rs886045317
|
|
NM_152263.4(TPM3):c.*958C>T
|
rs577888532
|
|
NM_152263.4(TPM3):c.117+14T>C
|
|
|
NM_152263.4(TPM3):c.118-11G>C
|
|
|
NM_152263.4(TPM3):c.118-12G>A
|
|
|
NM_152263.4(TPM3):c.118-20G>C
|
|
|
NM_152263.4(TPM3):c.118-3T>C
|
rs375206251
|
|
NM_152263.4(TPM3):c.118-3_118-2del
|
|
|
NM_152263.4(TPM3):c.118C>G (p.Leu40Val)
|
rs1160675914
|
|
NM_152263.4(TPM3):c.118C>T (p.Leu40=)
|
|
|
NM_152263.4(TPM3):c.11C>T (p.Ala4Val)
|
rs199474711
|
|
NM_152263.4(TPM3):c.124G>A (p.Asp42Asn)
|
rs1663671899
|
|
NM_152263.4(TPM3):c.137C>T (p.Ala46Val)
|
|
|
NM_152263.4(TPM3):c.159G>A (p.Gly53=)
|
|
|
NM_152263.4(TPM3):c.163G>A (p.Glu55Lys)
|
rs2148294608
|
|
NM_152263.4(TPM3):c.171G>A (p.Glu57=)
|
|
|
NM_152263.4(TPM3):c.185_193del (p.Ser62_Ala64del)
|
|
|
NM_152263.4(TPM3):c.19A>G (p.Lys7Glu)
|
|
|
NM_152263.4(TPM3):c.212A>T (p.Lys71Met)
|
rs2148294477
|
|
NM_152263.4(TPM3):c.229AAG[1] (p.Lys78del)
|
rs2148294430
|
|
NM_152263.4(TPM3):c.235G>C (p.Ala79Pro)
|
|
|
NM_152263.4(TPM3):c.243+11GA[2]
|
rs146969764
|
|
NM_152263.4(TPM3):c.243+17T>C
|
|
|
NM_152263.4(TPM3):c.243+1G>A
|
|
|
NM_152263.4(TPM3):c.245C>T (p.Ala82Val)
|
|
|
NM_152263.4(TPM3):c.262T>C (p.Ser88Pro)
|
rs1558052214
|
|
NM_152263.4(TPM3):c.271C>G (p.Arg91Gly)
|
rs1571418855
|
|
NM_152263.4(TPM3):c.271C>T (p.Arg91Cys)
|
rs1571418855
|
|
NM_152263.4(TPM3):c.272G>A (p.Arg91His)
|
|
|
NM_152263.4(TPM3):c.272G>C (p.Arg91Pro)
|
rs199474713
|
|
NM_152263.4(TPM3):c.273T>C (p.Arg91=)
|
rs974189739
|
|
NM_152263.4(TPM3):c.273_281del (p.Arg92_Gln94del)
|
|
|
NM_152263.4(TPM3):c.298C>A (p.Leu100Met)
|
rs121964853
|
|
NM_152263.4(TPM3):c.298C>G (p.Leu100Val)
|
rs121964853
|
|
NM_152263.4(TPM3):c.301G>A (p.Asp101Asn)
|
rs2148257542
|
|
NM_152263.4(TPM3):c.317G>A (p.Arg106His)
|
|
|
NM_152263.4(TPM3):c.324C>T (p.Ala108=)
|
rs1034128909
|
|
NM_152263.4(TPM3):c.346G>A (p.Glu116Lys)
|
|
|
NM_152263.4(TPM3):c.36G>C (p.Leu12=)
|
|
|
NM_152263.4(TPM3):c.378-11A>G
|
|
|
NM_152263.4(TPM3):c.378-11A>T
|
|
|
NM_152263.4(TPM3):c.378-16G>T
|
rs2148242406
|
|
NM_152263.4(TPM3):c.401G>A (p.Arg134Gln)
|
rs769493959
|
|
NM_152263.4(TPM3):c.412G>C (p.Asp138His)
|
rs2148242185
|
|
NM_152263.4(TPM3):c.423G>A (p.Lys141=)
|
rs2148242145
|
|
NM_152263.4(TPM3):c.43G>C (p.Asp15His)
|
rs1553251644
|
|
NM_152263.4(TPM3):c.44A>T (p.Asp15Val)
|
rs2148295444
|
|
NM_152263.4(TPM3):c.452A>C (p.Glu151Ala)
|
|
|
NM_152263.4(TPM3):c.455C>T (p.Ala152Val)
|
rs1553249076
|
|
NM_152263.4(TPM3):c.466G>A (p.Ala156Thr)
|
rs199474714
|
|
NM_152263.4(TPM3):c.494A>G (p.Glu165Gly)
|
rs1661790334
|
|
NM_152263.4(TPM3):c.495+10C>G
|
rs1043806769
|
|
NM_152263.4(TPM3):c.495+12T>G
|
|
|
NM_152263.4(TPM3):c.495+13C>T
|
rs2148241904
|
|
NM_152263.4(TPM3):c.495+9C>G
|
rs1661789594
|
|
NM_152263.4(TPM3):c.502C>G (p.Arg168Gly)
|
rs121964854
|
|
NM_152263.4(TPM3):c.502C>T (p.Arg168Cys)
|
rs121964854
|
|
NM_152263.4(TPM3):c.503G>A (p.Arg168His)
|
rs121964852
|
|
NM_152263.4(TPM3):c.503G>T (p.Arg168Leu)
|
|
|
NM_152263.4(TPM3):c.505A>G (p.Lys169Glu)
|
rs199474715
|
|
NM_152263.4(TPM3):c.510G>A (p.Leu170=)
|
|
|
NM_152263.4(TPM3):c.518T>A (p.Ile173Asn)
|
|
|
NM_152263.4(TPM3):c.535C>T (p.Arg179Cys)
|
|
|
NM_152263.4(TPM3):c.547C>T (p.Arg183Ter)
|
rs727504181
|
|
NM_152263.4(TPM3):c.552T>C (p.Ala184=)
|
|
|
NM_152263.4(TPM3):c.556C>T (p.Leu186=)
|
rs1203258070
|
|
NM_152263.4(TPM3):c.566+13C>T
|
|
|
NM_152263.4(TPM3):c.589_590delinsAT (p.Glu197Met)
|
rs2148235398
|
|
NM_152263.4(TPM3):c.591G>A (p.Glu197=)
|
|
|
NM_152263.4(TPM3):c.59T>C (p.Leu20Pro)
|
rs1663698070
|
|
NM_152263.4(TPM3):c.612C>T (p.Asn204=)
|
|
|
NM_152263.4(TPM3):c.621T>G (p.Ser207=)
|
|
|
NM_152263.4(TPM3):c.635C>T (p.Ala212Val)
|
|
|
NM_152263.4(TPM3):c.636G>A (p.Ala212=)
|
|
|
NM_152263.4(TPM3):c.642+2T>C
|
|
|
NM_152263.4(TPM3):c.642+8C>G
|
|
|
NM_152263.4(TPM3):c.643-13A>C
|
|
|
NM_152263.4(TPM3):c.643-8_643-4del
|
|
|
NM_152263.4(TPM3):c.687T>C (p.Leu229=)
|
|
|
NM_152263.4(TPM3):c.705+12G>T
|
|
|
NM_152263.4(TPM3):c.706-11A>G
|
rs752438266
|
|
NM_152263.4(TPM3):c.706-13A>G
|
|
|
NM_152263.4(TPM3):c.706-2dup
|
rs1085307588
|
|
NM_152263.4(TPM3):c.706-3C>T
|
rs750493083
|
|
NM_152263.4(TPM3):c.706-4C>T
|
rs2148231499
|
|
NM_152263.4(TPM3):c.706-5C>G
|
|
|
NM_152263.4(TPM3):c.706-6C>T
|
rs1661447571
|
|
NM_152263.4(TPM3):c.706-9T>A
|
rs931328025
|
|
NM_152263.4(TPM3):c.709G>A (p.Glu237Lys)
|
rs1661445206
|
|
NM_152263.4(TPM3):c.714C>G (p.Thr238=)
|
|
|
NM_152263.4(TPM3):c.716G>A (p.Arg239His)
|
|
|
NM_152263.4(TPM3):c.721G>A (p.Glu241Lys)
|
rs199474717
|
|
NM_152263.4(TPM3):c.733A>G (p.Arg245Gly)
|
rs199474718
|
|
NM_152263.4(TPM3):c.737C>T (p.Ser246Leu)
|
rs1553248522
|
|
NM_152263.4(TPM3):c.753A>G (p.Glu251=)
|
|
|
NM_152263.4(TPM3):c.758C>A (p.Thr253Lys)
|
rs1553248515
|
|
NM_152263.4(TPM3):c.760A>G (p.Ile254Val)
|
rs1553248513
|
|
NM_152263.4(TPM3):c.763G>A (p.Asp255Asn)
|
|
|
NM_152263.4(TPM3):c.775+15G>C
|
|
|
NM_152263.4(TPM3):c.775+6G>T
|
|
|
NM_152263.4(TPM3):c.775+7A>G
|
|
|
NM_152263.4(TPM3):c.776-14C>T
|
rs943685377
|
|
NM_152263.4(TPM3):c.776-15C>T
|
|
|
NM_152263.4(TPM3):c.776-18G>T
|
|
|
NM_152263.4(TPM3):c.776-6G>A
|
|
|
NM_152263.4(TPM3):c.776-6G>C
|
|
|
NM_152263.4(TPM3):c.780G>A (p.Glu260=)
|
rs1661333585
|
|
NM_152263.4(TPM3):c.796C>T (p.Leu266=)
|
rs189530777
|
|
NM_152263.4(TPM3):c.821A>C (p.Glu274Ala)
|
|
|
NM_152263.4(TPM3):c.854+8T>C
|
|
|
NM_152263.4(TPM3):c.855-19T>G
|
|
|
NM_152263.4(TPM3):c.855-20A>G
|
|
|
NM_152263.4(TPM3):c.855-6A>T
|
rs2148221842
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NM_152263.4(TPM3):c.855-8T>A
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NM_152263.4(TPM3):c.85G>A (p.Glu29Lys)
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rs1663696530
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NM_152263.4(TPM3):c.87_91del (p.Gln30fs)
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rs2148295371
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NM_152263.4(TPM3):c.88C>G (p.Gln30Glu)
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rs1160965388
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NM_152263.4(TPM3):c.8A>C (p.Glu3Ala)
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NM_152263.4(TPM3):c.94C>T (p.Gln32Ter)
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rs80358248
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NP_000531.2:p.4894Q
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NP_000531.2:p.F4860del
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NP_000531.2:p.F4906del
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NP_000531.2:p.G4893R
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NP_000531.2:p.L4647del
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Single allele
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p.L4796C
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p.M2434K
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