ClinVar Miner

List of variants studied for RYR1-related myopathy by Illumina Laboratory Services, Illumina

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 641
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.1077T>C (p.Ala359=) rs10406027 0.90489
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_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.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.8693-10G>C rs2915958 0.32159
NM_000540.3(RYR1):c.8337G>A (p.Glu2779=) rs2915952 0.32150
NM_152263.4(TPM3):c.*2185C>T rs10908723 0.31228
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_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_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_000540.3(RYR1):c.7835+7C>T rs114522234 0.01374
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_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_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_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.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_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.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_000540.3(RYR1):c.12956G>A (p.Arg4319Gln) rs539194350 0.00306
NM_000540.3(RYR1):c.8360C>G (p.Thr2787Ser) rs35180584 0.00291
NM_152263.4(TPM3):c.*780A>G rs185779007 0.00287
NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390 0.00282
NM_000540.3(RYR1):c.8376G>A (p.Arg2792=) rs150388417 0.00272
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_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.9555-9G>A rs149569999 0.00180
NM_152263.4(TPM3):c.*4876C>T rs141628385 0.00178
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_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.5036G>A (p.Arg1679His) rs146504767 0.00101
NM_152263.4(TPM3):c.*4806A>C rs186291812 0.00093
NM_000540.3(RYR1):c.8327C>T (p.Ser2776Phe) rs147707463 0.00085
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_001100.4(ACTA1):c.132C>T (p.Gly44=) rs146956806 0.00066
NM_152263.4(TPM3):c.*2152C>T rs1363684144 0.00065
NM_152263.4(TPM3):c.*3756C>A rs555633635 0.00060
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.2091C>T (p.Ala697=) rs138704724 0.00057
NM_152263.4(TPM3):c.*999G>A rs565913061 0.00057
NM_000540.3(RYR1):c.12880A>G (p.Thr4294Ala) rs1003914966 0.00053
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.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_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.8616+7G>A rs200023171 0.00031
NM_152263.4(TPM3):c.*2138T>C rs566002553 0.00031
NM_000540.3(RYR1):c.3381C>T (p.Arg1127=) rs200780880 0.00029
NM_001100.4(ACTA1):c.549G>A (p.Ala183=) rs200094415 0.00027
NM_000540.3(RYR1):c.4115C>T (p.Ala1372Val) rs370966353 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_000540.3(RYR1):c.7026C>T (p.Asn2342=) rs202061237 0.00024
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_000540.3(RYR1):c.2645C>T (p.Ala882Val) rs143701391 0.00021
NM_152263.4(TPM3):c.*962C>T rs564047493 0.00021
NM_000540.3(RYR1):c.2822C>T (p.Ala941Val) rs748568687 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.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.4257C>T (p.Asn1419=) rs36042816 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_000540.3(RYR1):c.3924G>C (p.Pro1308=) rs144350050 0.00015
NM_152263.4(TPM3):c.*5658G>A rs547577437 0.00015
NM_000540.3(RYR1):c.10048C>A (p.Arg3350=) rs200355885 0.00014
NM_000540.3(RYR1):c.2676C>T (p.Tyr892=) rs375402078 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_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.8079G>A (p.Pro2693=) rs368063600 0.00013
NM_000540.3(RYR1):c.9152G>A (p.Arg3051His) rs147303895 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_000540.3(RYR1):c.14196C>A (p.Ile4732=) rs201670423 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_000540.3(RYR1):c.14670G>C (p.Val4890=) rs773080803 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_000540.3(RYR1):c.10042C>T (p.Arg3348Cys) rs118204421 0.00009
NM_000540.3(RYR1):c.15015G>A (p.Thr5005=) rs2229149 0.00009
NM_000540.3(RYR1):c.4763C>T (p.Pro1588Leu) rs151029675 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.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.11260-13C>T rs540088883 0.00007
NM_000540.3(RYR1):c.12888G>C (p.Arg4296=) rs571850239 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.10938-11C>T rs760754746 0.00006
NM_000540.3(RYR1):c.10938-12T>A rs767711818 0.00006
NM_000540.3(RYR1):c.13350G>A (p.Gly4450=) rs748743312 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.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.4038C>A (p.Asn1346Lys) rs777049924 0.00006
NM_000540.3(RYR1):c.4620+13C>T rs201971363 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.7344T>C (p.Gly2448=) rs199813873 0.00006
NM_000540.3(RYR1):c.9555-10C>T rs774666035 0.00006
NM_000540.3(RYR1):c.9758T>C (p.Ile3253Thr) rs375626634 0.00006
NM_152263.4(TPM3):c.*1291A>G rs375670563 0.00006
NM_152263.4(TPM3):c.*1967C>T rs910205963 0.00006
NM_000540.3(RYR1):c.10359C>T (p.Arg3453=) rs376830015 0.00005
NM_000540.3(RYR1):c.14283G>A (p.Pro4761=) rs201157293 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.2835G>A (p.Ala945=) rs576990255 0.00005
NM_000540.3(RYR1):c.2996G>A (p.Arg999His) rs180714609 0.00005
NM_000540.3(RYR1):c.3379C>T (p.Arg1127Cys) rs753701890 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.9555-4C>T rs1417337927 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_000540.3(RYR1):c.10458C>T (p.Ser3486=) rs770132934 0.00004
NM_000540.3(RYR1):c.10577C>T (p.Ala3526Val) rs374061380 0.00004
NM_000540.3(RYR1):c.11778+3G>C rs758215068 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.14468C>T (p.Thr4823Met) rs148540135 0.00004
NM_000540.3(RYR1):c.14538G>C (p.Ala4846=) rs763954439 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.3548T>C (p.Ile1183Thr) rs761386401 0.00004
NM_000540.3(RYR1):c.3567C>T (p.Pro1189=) rs200161205 0.00004
NM_000540.3(RYR1):c.4213C>A (p.Pro1405Thr) rs376567445 0.00004
NM_000540.3(RYR1):c.4759G>A (p.Ala1587Thr) rs1030955858 0.00004
NM_000540.3(RYR1):c.6730C>T (p.Arg2244Trp) rs772753793 0.00004
NM_000540.3(RYR1):c.7689C>G (p.Thr2563=) rs781110591 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_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.495+7G>C rs749792884 0.00004
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.11193+15C>G rs370928637 0.00003
NM_000540.3(RYR1):c.12840G>T (p.Ala4280=) rs1292456827 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.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.4339G>A (p.Val1447Met) rs370851779 0.00003
NM_000540.3(RYR1):c.537+13G>A rs754569485 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.7755C>T (p.Thr2585=) rs768702294 0.00003
NM_000540.3(RYR1):c.8113G>A (p.Ala2705Thr) rs536813036 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_001100.4(ACTA1):c.435C>T (p.Tyr145=) rs371410845 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_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.11314C>T (p.Arg3772Trp) rs763112609 0.00002
NM_000540.3(RYR1):c.11385C>T (p.Ser3795=) rs757745087 0.00002
NM_000540.3(RYR1):c.11726C>T (p.Thr3909Met) rs762258310 0.00002
NM_000540.3(RYR1):c.12624+9A>G rs548515798 0.00002
NM_000540.3(RYR1):c.13617C>T (p.Gly4539=) rs2302296 0.00002
NM_000540.3(RYR1):c.13867G>A (p.Asp4623Asn) rs547709829 0.00002
NM_000540.3(RYR1):c.14697G>A (p.Gly4899=) rs770698609 0.00002
NM_000540.3(RYR1):c.3123C>T (p.Ala1041=) rs569565316 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.4205C>T (p.Pro1402Leu) rs766135560 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.4980C>T (p.Arg1660=) rs374115286 0.00002
NM_000540.3(RYR1):c.619C>T (p.Arg207Cys) rs748140394 0.00002
NM_000540.3(RYR1):c.7488G>A (p.Pro2496=) rs375997435 0.00002
NM_000540.3(RYR1):c.7855C>T (p.Leu2619=) rs762212220 0.00002
NM_000540.3(RYR1):c.8466G>A (p.Thr2822=) rs761622550 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_001100.4(ACTA1):c.809-16_809-15insG rs746125735 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.378-13C>T rs367548433 0.00002
NM_000540.3(RYR1):c.-118G>A rs1972297039 0.00001
NM_000540.3(RYR1):c.10441-8T>C rs755330618 0.00001
NM_000540.3(RYR1):c.11193+3G>A rs886054400 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.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.12802G>A (p.Ala4268Thr) rs886054404 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.13142C>G (p.Ala4381Gly) rs794727983 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.14129+10C>A rs546280470 0.00001
NM_000540.3(RYR1):c.14273A>G (p.Lys4758Arg) rs1974034199 0.00001
NM_000540.3(RYR1):c.14706C>T (p.Ile4902=) rs886054411 0.00001
NM_000540.3(RYR1):c.1739A>G (p.Asn580Ser) rs373301841 0.00001
NM_000540.3(RYR1):c.199G>A (p.Val67Ile) rs761182247 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.2823G>A (p.Ala941=) rs750305530 0.00001
NM_000540.3(RYR1):c.3055C>T (p.Arg1019Trp) rs757715804 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.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.4259G>A (p.Arg1420His) rs150499158 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.4650C>T (p.Ala1550=) rs200600174 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.577T>A (p.Ser193Thr) rs886054379 0.00001
NM_000540.3(RYR1):c.6128-3C>T rs775568216 0.00001
NM_000540.3(RYR1):c.6407G>A (p.Arg2136His) rs530885842 0.00001
NM_000540.3(RYR1):c.6549-8G>A rs756593088 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.7282G>A (p.Ala2428Thr) rs193922809 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.7640C>T (p.Ala2547Val) rs751482960 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.7857G>A (p.Leu2619=) rs547048377 0.00001
NM_000540.3(RYR1):c.7859A>C (p.Gln2620Pro) rs1425983637 0.00001
NM_000540.3(RYR1):c.8082G>A (p.Glu2694=) rs745619519 0.00001
NM_000540.3(RYR1):c.8377C>T (p.Pro2793Ser) rs369040621 0.00001
NM_000540.3(RYR1):c.8514A>C (p.Lys2838Asn) rs140171924 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.9001-8G>A rs768611849 0.00001
NM_000540.3(RYR1):c.9096T>A (p.Ser3032=) rs144067910 0.00001
NM_000540.3(RYR1):c.946C>T (p.Arg316Cys) rs752652072 0.00001
NM_000540.3(RYR1):c.9554+13A>T rs1265960627 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.9732G>A (p.Pro3244=) rs764290955 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_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.567-4A>C rs199517163 0.00001
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.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.10466C>G (p.Ser3489Trp) rs764263987
NM_000540.3(RYR1):c.10656T>C (p.Phe3552=) rs1971495978
NM_000540.3(RYR1):c.10803C>A (p.Ala3601=) rs141542477
NM_000540.3(RYR1):c.10824+13G>A rs756468318
NM_000540.3(RYR1):c.10910G>A (p.Arg3637His) rs747528384
NM_000540.3(RYR1):c.11119C>T (p.Arg3707Cys) rs781379239
NM_000540.3(RYR1):c.11138A>G (p.Lys3713Arg) rs1971614117
NM_000540.3(RYR1):c.11292C>T (p.Tyr3764=) rs886054401
NM_000540.3(RYR1):c.11623G>A (p.Ala3875Thr) rs764309886
NM_000540.3(RYR1):c.11819A>G (p.Asp3940Gly) rs1972296147
NM_000540.3(RYR1):c.11907+8G>A rs886054402
NM_000540.3(RYR1):c.12084G>T (p.Ser4028=) rs571477269
NM_000540.3(RYR1):c.12373G>A (p.Glu4125Lys) rs1973119741
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.12860_12869delinsT (p.Ala4287_Ala4290delinsVal) rs796065337
NM_000540.3(RYR1):c.12954G>A (p.Arg4318=) rs886054405
NM_000540.3(RYR1):c.12990C>T (p.Thr4330=) rs184450380
NM_000540.3(RYR1):c.13038T>C (p.Ala4346=) rs758223017
NM_000540.3(RYR1):c.13091G>C (p.Gly4364Ala) rs1973361809
NM_000540.3(RYR1):c.13128G>A (p.Val4376=) rs886054406
NM_000540.3(RYR1):c.13191C>T (p.Ala4397=) rs543458339
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.13437+14C>A rs771599721
NM_000540.3(RYR1):c.13551C>T (p.Pro4517=) rs886054410
NM_000540.3(RYR1):c.13680T>C (p.Phe4560=) rs377664510
NM_000540.3(RYR1):c.13699G>T (p.Ala4567Ser) rs371441593
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.1440+13C>T rs774459267
NM_000540.3(RYR1):c.1441-12T>C rs760987340
NM_000540.3(RYR1):c.14773G>A (p.Val4925Ile) rs959737076
NM_000540.3(RYR1):c.14981T>C (p.Met4994Thr) rs886054412
NM_000540.3(RYR1):c.1808G>A (p.Cys603Tyr) rs886054380
NM_000540.3(RYR1):c.2004C>T (p.Asp668=) rs78835441
NM_000540.3(RYR1):c.2164A>G (p.Thr722Ala) rs1183569355
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.3773G>T (p.Arg1258Leu) rs886054381
NM_000540.3(RYR1):c.3820C>G (p.Arg1274Gly) rs1425575552
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.4481T>C (p.Val1494Ala) rs767928113
NM_000540.3(RYR1):c.4878C>T (p.Ala1626=) rs369466056
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.5234C>G (p.Thr1745Arg) rs377476955
NM_000540.3(RYR1):c.537+12C>A rs779869638
NM_000540.3(RYR1):c.5438G>T (p.Arg1813Met) rs886054389
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.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.6128-13T>G rs1969594703
NM_000540.3(RYR1):c.6262G>A (p.Glu2088Lys) rs587784378
NM_000540.3(RYR1):c.6353G>C (p.Arg2118Pro) rs201649680
NM_000540.3(RYR1):c.6599C>G (p.Ala2200Gly) rs193922791
NM_000540.3(RYR1):c.663C>T (p.Leu221=) rs761319979
NM_000540.3(RYR1):c.6799A>G (p.Met2267Val) rs886054393
NM_000540.3(RYR1):c.7028-11C>G rs369342449
NM_000540.3(RYR1):c.7053T>C (p.Asn2351=) rs748167551
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.7584C>T (p.Pro2528=) rs1465698
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.7743T>C (p.Ser2581=) rs1477392994
NM_000540.3(RYR1):c.7787C>G (p.Thr2596Ser) rs193922824
NM_000540.3(RYR1):c.7836-3C>T rs1345584460
NM_000540.3(RYR1):c.7836-6C>T rs780269941
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.7927-7C>T rs886054395
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.8546A>G (p.Tyr2849Cys) rs1970446266
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.8901G>A (p.Met2967Ile) rs1970544424
NM_000540.3(RYR1):c.897G>C (p.Val299=) rs76854339
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.9718T>C (p.Cys3240Arg) rs979989952
NM_000540.3(RYR1):c.9726C>T (p.Asp3242=) rs1971019633
NM_000540.3(RYR1):c.9784C>T (p.Arg3262Cys) rs557030813
NM_000540.3(RYR1):c.9846C>T (p.Pro3282=) rs886054399
NM_000540.3(RYR1):c.9885C>G (p.Ala3295=) rs776468955
NM_001100.4(ACTA1):c.-66_-65delinsTC rs386640096
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.453C>G (p.Thr151=) rs76030344
NM_001100.4(ACTA1):c.480C>A (p.Gly160=) rs1571893385
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.966G>A (p.Leu322=) rs765996798
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.243+11GA[2] rs146969764
NM_152263.4(TPM3):c.324C>T (p.Ala108=) rs1034128909
NM_152263.4(TPM3):c.776-14C>T rs943685377

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.