ClinVar Miner

Variants with conflicting interpretations studied for Malignant hyperthermia, susceptibility to, 1

Coded as:
Minimum review status of the submission for Malignant hyperthermia, susceptibility to, 1: Collection method of the submission for Malignant hyperthermia, susceptibility to, 1:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
1596 2557 14 204 473 38 271 901

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Malignant hyperthermia, susceptibility to, 1 pathogenic likely pathogenic uncertain significance likely benign benign drug response
pathogenic 14 26 8 1 0 28
likely pathogenic 45 0 24 1 0 15
uncertain significance 148 186 0 306 22 4
likely benign 1 3 278 0 71 0
benign 0 1 47 117 0 0

Condition to condition summary #

Total conditions: 37
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Condition Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
RYR1-related disorder 0 2398 13 123 321 0 208 642
not provided 0 1119 13 142 232 0 177 523
Malignant hyperthermia, susceptibility to, 1 3566 1267 11 55 145 0 18 221
not specified 0 366 0 62 80 0 4 134
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion; King Denborough syndrome 0 325 1 23 25 0 23 66
desflurane response - Toxicity 0 0 0 0 0 38 0 38
enflurane response - Toxicity 0 0 0 0 0 38 0 38
halothane response - Toxicity 0 0 0 0 0 38 0 38
isoflurane response - Toxicity 0 0 0 0 0 38 0 38
methoxyflurane response - Toxicity 0 0 0 0 0 38 0 38
sevoflurane response - Toxicity 0 0 0 0 0 38 0 38
succinylcholine response - Toxicity 0 0 0 0 0 38 0 38
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; King Denborough syndrome 0 25 2 3 7 0 21 32
Malignant hypothermia 0 4 0 1 8 0 1 10
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion 0 9 0 2 5 0 3 9
See cases 0 2 0 1 3 0 2 6
Myopathy, RYR1-associated 0 4 0 0 0 0 5 5
Abnormality of the musculature 0 1 0 0 0 0 2 2
Central core disease, autosomal recessive 0 0 0 1 0 0 2 2
Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 0 0 0 0 1 0 1 2
Acute rhabdomyolysis 0 1 0 1 0 0 0 1
Autosomal dominant and autosomal recessive RYR1-related disorders 0 0 0 0 0 0 1 1
Autosomal semidominant RYR1-related disorders 0 0 0 0 0 0 1 1
Axial myopathy, late-onset 0 0 0 1 0 0 0 1
CACNA1S-related disorder 0 0 0 0 1 0 0 1
Central core myopathy; Malignant hyperthermia, susceptibility to, 1 0 1 0 1 0 0 0 1
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia 0 2 0 1 0 0 0 1
Charcot-Marie-Tooth, Intermediate 0 0 0 0 0 0 1 1
Elevated circulating creatine kinase concentration; Myalgia; Exercise-induced myalgia 0 2 0 0 1 0 0 1
Hypotonia 0 0 0 0 0 0 1 1
Malignant hyperthermia 0 1 1 0 0 0 0 1
Malignant hyperthermia and exertional rhabdomyolosis 0 1 0 1 0 0 0 1
Malignant hyperthermia, susceptibility to, 5 0 0 0 0 1 0 0 1
Multi-minicore disease and atypical periodic paralysis 0 0 0 0 1 0 1 1
Multiminicore/minicore/multicore disease 0 0 0 1 1 0 0 1
Myopathy, progressive axial with cataracts 0 0 0 1 0 0 0 1
Pulmonary Surfactant Metabolism Dysfunction, Dominant 0 0 0 1 0 0 1 1

All variants with conflicting interpretations #

Total variants: 901
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.594A>G (p.Leu198=) rs2229139 0.60966
NM_000540.3(RYR1):c.7835+5A>G rs1469695 0.38217
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 0.33010
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_000540.3(RYR1):c.7614+10C>G rs2960323 0.23229
NM_000540.3(RYR1):c.7863C>T (p.His2621=) rs2229142 0.16968
NM_000540.3(RYR1):c.10687-7C>T rs2960354 0.11845
NM_000540.3(RYR1):c.7098C>T (p.Pro2366=) rs2229147 0.10248
NM_000540.3(RYR1):c.7089C>T (p.Cys2363=) rs2228071 0.06653
NM_000540.3(RYR1):c.13317C>T (p.Ala4439=) rs113579185 0.04642
NM_000540.3(RYR1):c.13671C>G (p.Ser4557=) rs35959206 0.04188
NM_000540.3(RYR1):c.12094+11A>G rs73933018 0.03267
NM_000540.3(RYR1):c.7260C>T (p.His2420=) rs12973632 0.03006
NM_000540.3(RYR1):c.2871-5C>T rs45585535 0.03001
NM_000540.3(RYR1):c.4107C>T (p.Pro1369=) rs11882640 0.02804
NM_000540.3(RYR1):c.1577-6C>G rs61586345 0.02394
NM_000540.3(RYR1):c.11908-14A>G rs2292799 0.02290
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.11266C>G (p.Gln3756Glu) rs4802584 0.02143
NM_000540.3(RYR1):c.13503G>A (p.Pro4501=) rs2960319 0.01964
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_000540.3(RYR1):c.7835+7C>T rs114522234 0.01374
NM_000540.3(RYR1):c.10747G>C (p.Glu3583Gln) rs55876273 0.01258
NM_000540.3(RYR1):c.11625G>A (p.Ala3875=) rs61729397 0.00991
NM_000540.3(RYR1):c.7737G>A (p.Val2579=) rs114975624 0.00899
NM_000540.3(RYR1):c.10259+7G>A rs143752962 0.00875
NM_000540.3(RYR1):c.12879G>C (p.Ala4293=) rs193922854 0.00873
NM_000540.3(RYR1):c.13464G>A (p.Pro4488=) rs10405232 0.00800
NM_000540.3(RYR1):c.906C>T (p.Asp302=) rs145943283 0.00765
NM_000540.3(RYR1):c.12741C>T (p.Ala4247=) rs80039127 0.00745
NM_000540.3(RYR1):c.7281C>T (p.Ala2427=) rs77310009 0.00694
NM_000540.3(RYR1):c.4055C>G (p.Ala1352Gly) rs112105381 0.00685
NM_000540.3(RYR1):c.6498C>T (p.Leu2166=) rs151313865 0.00648
NM_000540.3(RYR1):c.3876C>A (p.Leu1292=) rs143750836 0.00639
NM_000540.3(RYR1):c.3326G>A (p.Arg1109Lys) rs35719391 0.00619
NM_000540.3(RYR1):c.573C>T (p.Asp191=) rs892054 0.00607
NM_000540.3(RYR1):c.14589C>T (p.Phe4863=) rs146072491 0.00597
NM_000540.3(RYR1):c.4894C>T (p.Pro1632Ser) rs76537615 0.00586
NM_000540.3(RYR1):c.6384C>T (p.Tyr2128=) rs75181912 0.00574
NM_000540.3(RYR1):c.13502C>T (p.Pro4501Leu) rs73933023 0.00572
NM_000540.3(RYR1):c.4719G>A (p.Pro1573=) rs35480887 0.00563
NM_000540.3(RYR1):c.5037C>G (p.Arg1679=) rs34169029 0.00555
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.873G>A (p.Ala291=) rs2229140 0.00484
NM_000540.3(RYR1):c.5565C>T (p.Gly1855=) rs61750975 0.00478
NM_000540.3(RYR1):c.12588C>T (p.Ile4196=) rs61739895 0.00460
NM_000540.3(RYR1):c.5634G>C (p.Glu1878Asp) rs114203198 0.00452
NM_000540.3(RYR1):c.9882C>T (p.Ser3294=) rs142610625 0.00443
NM_000540.3(RYR1):c.12881C>T (p.Thr4294Met) rs587784372 0.00440
NM_000540.3(RYR1):c.3972G>A (p.Ala1324=) rs200451188 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.1923C>G (p.Thr641=) rs116591968 0.00404
NM_000540.3(RYR1):c.5493G>T (p.Gly1831=) rs140004449 0.00403
NM_000540.3(RYR1):c.11941C>T (p.His3981Tyr) rs148772854 0.00392
NM_000540.3(RYR1):c.3946C>A (p.Pro1316Thr) rs200894780 0.00386
NM_000540.3(RYR1):c.6732G>A (p.Arg2244=) rs78915828 0.00357
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_000069.3(CACNA1S):c.4060A>T (p.Thr1354Ser) rs145910245 0.00349
NM_000540.3(RYR1):c.10941C>G (p.His3647Gln) rs114351116 0.00326
NM_000540.3(RYR1):c.2415T>C (p.Pro805=) rs141881325 0.00319
NM_000540.3(RYR1):c.8827G>A (p.Asp2943Asn) rs79294840 0.00307
NM_000540.3(RYR1):c.12956G>A (p.Arg4319Gln) rs539194350 0.00306
NM_000540.3(RYR1):c.8376G>A (p.Arg2792=) rs150388417 0.00301
NM_000540.3(RYR1):c.8360C>G (p.Thr2787Ser) rs35180584 0.00291
NM_000540.3(RYR1):c.14505G>A (p.Gly4835=) rs118126378 0.00280
NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390 0.00279
NM_000540.3(RYR1):c.4443C>T (p.Asn1481=) rs141317474 0.00277
NM_000540.3(RYR1):c.11360-9T>A rs150187840 0.00260
NM_000540.3(RYR1):c.14130-8C>G rs140808099 0.00242
NM_000540.3(RYR1):c.216G>T (p.Leu72=) rs113389877 0.00213
NM_000540.3(RYR1):c.958-11del rs537751969 0.00211
NM_000540.3(RYR1):c.2121C>A (p.Gly707=) rs146104858 0.00206
NM_000540.3(RYR1):c.2677G>A (p.Gly893Ser) rs147336515 0.00202
NM_000540.3(RYR1):c.3557-6C>T rs139849689 0.00196
NM_000540.3(RYR1):c.12283-7C>T rs143861818 0.00195
NM_000540.3(RYR1):c.9242T>C (p.Met3081Thr) rs147012990 0.00194
NM_000540.3(RYR1):c.271-7C>G rs192495718 0.00192
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 0.00185
NM_000540.3(RYR1):c.4999C>T (p.Arg1667Cys) rs144157950 0.00174
NM_000540.3(RYR1):c.-102C>T rs190259953 0.00171
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His) rs143987857 0.00166
NM_000540.3(RYR1):c.12884C>T (p.Ala4295Val) rs193922855 0.00163
NM_000540.3(RYR1):c.6612C>T (p.His2204=) rs141646642 0.00161
NM_000540.3(RYR1):c.2622G>A (p.Ala874=) rs149381996 0.00155
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_000540.3(RYR1):c.7923C>G (p.Leu2641=) rs142558977 0.00126
NM_000540.3(RYR1):c.94C>T (p.Leu32Phe) rs138630815 0.00116
NM_000540.3(RYR1):c.725+6G>A rs201679831 0.00111
NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys) rs147136339 0.00110
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val) rs146429605 0.00107
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser) rs147213895 0.00107
NM_000540.3(RYR1):c.5036G>A (p.Arg1679His) rs146504767 0.00101
NM_000540.3(RYR1):c.9355C>T (p.Arg3119Cys) rs61739911 0.00101
NM_000540.3(RYR1):c.4088C>T (p.Ala1363Val) rs774603798 0.00084
NM_000540.3(RYR1):c.14130-9T>G rs191894192 0.00082
NM_000540.3(RYR1):c.8327C>T (p.Ser2776Phe) rs147707463 0.00081
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_000540.3(RYR1):c.7860G>A (p.Gln2620=) rs147587000 0.00072
NM_000540.3(RYR1):c.4902C>G (p.Thr1634=) rs377100871 0.00069
NM_000540.3(RYR1):c.5364T>G (p.Ala1788=) rs200950362 0.00068
NM_000540.3(RYR1):c.7020C>T (p.Phe2340=) rs199993301 0.00067
NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn) rs138874610 0.00065
NM_000540.3(RYR1):c.6387C>T (p.Asp2129=) rs117886618 0.00062
NM_000540.3(RYR1):c.11609-13C>T rs374885508 0.00061
NM_000540.3(RYR1):c.443C>T (p.Thr148Ile) rs151325948 0.00061
NM_000540.3(RYR1):c.9555-7C>G rs376790946 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.8616+7G>A rs200023171 0.00058
NM_000540.3(RYR1):c.14070G>A (p.Thr4690=) rs113058779 0.00057
NM_000540.3(RYR1):c.11321C>T (p.Ala3774Val) rs146361173 0.00053
NM_000540.3(RYR1):c.12880A>G (p.Thr4294Ala) rs1003914966 0.00053
NM_000540.3(RYR1):c.2091C>T (p.Ala697=) rs138704724 0.00052
NM_000540.3(RYR1):c.3505A>C (p.Met1169Leu) rs139069946 0.00051
NM_000540.3(RYR1):c.7830C>T (p.Leu2610=) rs140063541 0.00049
NM_000540.3(RYR1):c.3111C>T (p.Ser1037=) rs145434723 0.00047
NM_000540.3(RYR1):c.9262G>A (p.Val3088Met) rs145044872 0.00046
NM_000540.3(RYR1):c.1152C>T (p.Asp384=) rs149770144 0.00044
NM_000540.3(RYR1):c.12203A>G (p.Lys4068Arg) rs114009747 0.00043
NM_000540.3(RYR1):c.4090G>C (p.Gly1364Arg) rs35869497 0.00042
NM_000540.3(RYR1):c.8671A>C (p.Lys2891Gln) rs146793133 0.00042
NM_000540.3(RYR1):c.9385C>T (p.Leu3129Phe) rs143445685 0.00042
NM_000540.3(RYR1):c.6645C>T (p.Leu2215=) rs146617004 0.00040
NM_000540.3(RYR1):c.7788C>T (p.Thr2596=) rs199636890 0.00039
NM_000540.3(RYR1):c.1123-11C>T rs3745845 0.00038
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.1453A>G (p.Met485Val) rs147723844 0.00036
NM_000540.3(RYR1):c.11439+9G>A rs369650355 0.00035
NM_000540.3(RYR1):c.2658C>T (p.Ile886=) rs148094797 0.00035
NM_000540.3(RYR1):c.10938-9C>T rs201976186 0.00034
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.4026C>A (p.Ser1342Arg) rs182004703 0.00029
NM_000540.3(RYR1):c.79G>A (p.Val27Met) rs143481004 0.00029
NM_000540.3(RYR1):c.3381C>T (p.Arg1127=) rs200780880 0.00028
NM_000540.3(RYR1):c.13547A>G (p.Glu4516Gly) rs149984626 0.00027
NM_000540.3(RYR1):c.4115C>T (p.Ala1372Val) rs370966353 0.00026
NM_000540.3(RYR1):c.1598G>A (p.Arg533His) rs144336148 0.00025
NM_000540.3(RYR1):c.5235G>A (p.Thr1745=) rs149471411 0.00025
NM_000540.3(RYR1):c.6478G>A (p.Gly2160Ser) rs143398211 0.00025
NM_000540.3(RYR1):c.13477C>G (p.Pro4493Ala) rs149455643 0.00023
NM_000540.3(RYR1):c.7026C>T (p.Asn2342=) rs202061237 0.00023
NM_000540.3(RYR1):c.3555C>T (p.Asp1185=) rs377282283 0.00022
NM_000540.3(RYR1):c.548C>T (p.Thr183Ile) rs150038701 0.00022
NM_000540.3(RYR1):c.7881G>A (p.Val2627=) rs201877620 0.00021
NM_000540.3(RYR1):c.13680T>C (p.Phe4560=) rs377664510 0.00020
NM_000540.3(RYR1):c.10173G>A (p.Glu3391=) rs199765885 0.00019
NM_000540.3(RYR1):c.11034+15G>A rs552725260 0.00019
NM_000540.3(RYR1):c.2160C>G (p.Leu720=) rs200914778 0.00019
NM_000540.3(RYR1):c.2822C>T (p.Ala941Val) rs748568687 0.00019
NM_000540.3(RYR1):c.2933C>T (p.Pro978Leu) rs200124278 0.00019
NM_000540.3(RYR1):c.3618C>T (p.Asp1206=) rs191970833 0.00019
NM_000540.3(RYR1):c.6639C>T (p.Asn2213=) rs374630822 0.00019
NM_000540.3(RYR1):c.7141G>A (p.Glu2381Lys) rs148426762 0.00019
NM_000540.3(RYR1):c.89A>T (p.Glu30Val) rs145771708 0.00019
NM_000540.3(RYR1):c.9886C>G (p.Leu3296Val) rs368433841 0.00019
NM_000540.3(RYR1):c.4911G>A (p.Ala1637=) rs370350821 0.00018
NM_000540.3(RYR1):c.8733C>A (p.Leu2911=) rs200427576 0.00018
NM_000540.3(RYR1):c.9896G>T (p.Gly3299Val) rs376790408 0.00018
NM_000540.3(RYR1):c.14061G>A (p.Leu4687=) rs201629205 0.00017
NM_000540.3(RYR1):c.14304-10G>A rs368201693 0.00017
NM_000540.3(RYR1):c.2679C>G (p.Gly893=) rs765657226 0.00017
NM_000540.3(RYR1):c.7836-7C>T rs370713261 0.00017
NM_000540.3(RYR1):c.14919G>A (p.Pro4973=) rs535386378 0.00016
NM_000540.3(RYR1):c.2223C>T (p.Asp741=) rs150831055 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_000540.3(RYR1):c.9796A>C (p.Met3266Leu) rs201588259 0.00016
NM_000540.3(RYR1):c.10441-10G>A rs200939091 0.00015
NM_000540.3(RYR1):c.2531G>A (p.Cys844Tyr) rs146754847 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_000540.3(RYR1):c.15015G>A (p.Thr5005=) rs2229149 0.00014
NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp) rs147320363 0.00014
NM_000540.3(RYR1):c.2319C>T (p.Asp773=) rs374924686 0.00014
NM_000540.3(RYR1):c.2676C>T (p.Tyr892=) rs375402078 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.11450A>T (p.Asp3817Val) rs372491219 0.00013
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.6251G>A (p.Arg2084Gln) rs143681974 0.00013
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) rs200563280 0.00013
NM_000540.3(RYR1):c.7672G>A (p.Val2558Met) rs771523641 0.00013
NM_000540.3(RYR1):c.8079G>A (p.Pro2693=) rs368063600 0.00013
NM_000540.3(RYR1):c.9148G>A (p.Val3050Ile) rs200797340 0.00013
NM_000540.3(RYR1):c.9152G>A (p.Arg3051His) rs147303895 0.00013
NM_000540.3(RYR1):c.9261C>T (p.Ile3087=) rs56338790 0.00013
NM_000540.3(RYR1):c.13617C>T (p.Gly4539=) rs2302296 0.00012
NM_000540.3(RYR1):c.13660-10T>C rs188836987 0.00012
NM_000540.3(RYR1):c.5321C>T (p.Pro1774Leu) rs199837883 0.00012
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.1840C>T (p.Arg614Cys) rs118192172 0.00011
NM_000540.3(RYR1):c.2366G>A (p.Arg789Gln) rs200069592 0.00011
NM_000540.3(RYR1):c.6600G>A (p.Ala2200=) rs375640581 0.00011
NM_000540.3(RYR1):c.8073C>T (p.Tyr2691=) rs202160739 0.00011
NM_000540.3(RYR1):c.10348-6C>G rs193922837 0.00010
NM_000540.3(RYR1):c.10440+4G>A rs373523691 0.00010
NM_000540.3(RYR1):c.11599C>T (p.Arg3867Cys) rs138593495 0.00010
NM_000540.3(RYR1):c.11691T>C (p.Asp3897=) rs201588544 0.00010
NM_000540.3(RYR1):c.14670G>C (p.Val4890=) rs773080803 0.00010
NM_000540.3(RYR1):c.418G>A (p.Ala140Thr) rs142474192 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_000540.3(RYR1):c.7433C>A (p.Thr2478Asn) rs141298868 0.00010
NM_000540.3(RYR1):c.10664A>T (p.Asn3555Ile) rs199689862 0.00009
NM_000540.3(RYR1):c.13849G>A (p.Gly4617Arg) rs202226983 0.00009
NM_000540.3(RYR1):c.1593C>T (p.Gly531=) rs927675372 0.00009
NM_000540.3(RYR1):c.4185C>T (p.Val1395=) rs761955179 0.00009
NM_000540.3(RYR1):c.6549-9C>T rs370994573 0.00009
NM_000540.3(RYR1):c.9063G>A (p.Pro3021=) rs200068725 0.00009
NM_000540.3(RYR1):c.10648C>T (p.Arg3550Trp) rs536304635 0.00008
NM_000540.3(RYR1):c.11518G>A (p.Val3840Ile) rs140616359 0.00008
NM_000540.3(RYR1):c.2488C>T (p.Arg830Trp) rs142548565 0.00008
NM_000540.3(RYR1):c.2712G>A (p.Pro904=) rs139339574 0.00008
NM_000540.3(RYR1):c.5289G>A (p.Pro1763=) rs376482004 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.10032C>T (p.Pro3344=) rs376687300 0.00007
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.11412C>T (p.Leu3804=) rs376851030 0.00007
NM_000540.3(RYR1):c.12888G>C (p.Arg4296=) rs571850239 0.00007
NM_000540.3(RYR1):c.14602G>A (p.Glu4868Lys) rs187569997 0.00007
NM_000540.3(RYR1):c.14646G>A (p.Thr4882=) rs536148030 0.00007
NM_000540.3(RYR1):c.1475G>A (p.Arg492His) rs901087791 0.00007
NM_000540.3(RYR1):c.4113G>C (p.Arg1371Ser) rs551509462 0.00007
NM_000540.3(RYR1):c.4747C>T (p.Arg1583Cys) rs754476250 0.00007
NM_000540.3(RYR1):c.5637C>T (p.Asp1879=) rs143418190 0.00007
NM_000540.3(RYR1):c.6138A>G (p.Leu2046=) rs551228795 0.00007
NM_000540.3(RYR1):c.6670C>T (p.Arg2224Cys) rs199870223 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.10274C>T (p.Thr3425Met) rs150977342 0.00006
NM_000540.3(RYR1):c.10825-11C>A rs201114660 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.11597A>G (p.Asn3866Ser) rs767107632 0.00006
NM_000540.3(RYR1):c.13350G>A (p.Gly4450=) rs748743312 0.00006
NM_000540.3(RYR1):c.14868+6T>A rs759934562 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.2844C>T (p.Asn948=) rs761045773 0.00006
NM_000540.3(RYR1):c.2956C>T (p.Arg986Cys) rs150993059 0.00006
NM_000540.3(RYR1):c.2996G>A (p.Arg999His) rs180714609 0.00006
NM_000540.3(RYR1):c.4038C>A (p.Asn1346Lys) rs777049924 0.00006
NM_000540.3(RYR1):c.5385G>C (p.Pro1795=) rs772422894 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.7229C>T (p.Pro2410Leu) rs145787667 0.00006
NM_000540.3(RYR1):c.8598C>T (p.Thr2866=) rs538250432 0.00006
NM_000540.3(RYR1):c.9472C>T (p.Leu3158=) rs770942162 0.00006
NM_000540.3(RYR1):c.9579C>G (p.Cys3193Trp) rs587784379 0.00006
NM_000540.3(RYR1):c.9758T>C (p.Ile3253Thr) rs375626634 0.00006
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly) rs367543058 0.00005
NM_000540.3(RYR1):c.10347C>T (p.His3449=) rs373702420 0.00005
NM_000540.3(RYR1):c.10359C>T (p.Arg3453=) rs376830015 0.00005
NM_000540.3(RYR1):c.13926C>T (p.Pro4642=) rs559685703 0.00005
NM_000540.3(RYR1):c.13998+3G>A rs765404523 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.1909A>G (p.Ile637Val) rs567084532 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.325C>T (p.Arg109Trp) rs118192173 0.00005
NM_000540.3(RYR1):c.3442G>A (p.Val1148Ile) rs201174268 0.00005
NM_000540.3(RYR1):c.4306G>A (p.Val1436Met) rs200289457 0.00005
NM_000540.3(RYR1):c.4346C>T (p.Ala1449Val) rs775455157 0.00005
NM_000540.3(RYR1):c.4620+13C>T rs201971363 0.00005
NM_000540.3(RYR1):c.6418C>T (p.Arg2140Trp) rs750275456 0.00005
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593 0.00005
NM_000540.3(RYR1):c.767G>A (p.Arg256His) rs772767943 0.00005
NM_000540.3(RYR1):c.7800T>C (p.Arg2600=) rs762682222 0.00005
NM_000540.3(RYR1):c.7839C>T (p.Tyr2613=) rs758413758 0.00005
NM_000540.3(RYR1):c.8179G>A (p.Ala2727Thr) rs545688934 0.00005
NM_000540.3(RYR1):c.8880G>C (p.Leu2960=) rs763905757 0.00005
NM_000540.3(RYR1):c.9348G>A (p.Ser3116=) rs763655831 0.00005
NM_000540.3(RYR1):c.9456C>T (p.Phe3152=) rs369206584 0.00005
NM_000540.3(RYR1):c.9723C>T (p.Pro3241=) rs199828145 0.00005
NM_000540.3(RYR1):c.9859C>T (p.Arg3287Cys) rs201276068 0.00005
NM_000540.3(RYR1):c.10170C>T (p.Gly3390=) rs369239179 0.00004
NM_000540.3(RYR1):c.10458C>T (p.Ser3486=) rs770132934 0.00004
NM_000540.3(RYR1):c.10485G>C (p.Lys3495Asn) rs753726014 0.00004
NM_000540.3(RYR1):c.10917G>A (p.Thr3639=) rs371952058 0.00004
NM_000540.3(RYR1):c.11133G>A (p.Thr3711=) rs368980166 0.00004
NM_000540.3(RYR1):c.11557G>A (p.Glu3853Lys) rs145087576 0.00004
NM_000540.3(RYR1):c.11763C>A (p.Tyr3921Ter) rs377178986 0.00004
NM_000540.3(RYR1):c.1250T>C (p.Leu417Pro) rs764262446 0.00004
NM_000540.3(RYR1):c.13498G>A (p.Glu4500Lys) rs752192756 0.00004
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met) rs118192140 0.00004
NM_000540.3(RYR1):c.14538G>C (p.Ala4846=) rs763954439 0.00004
NM_000540.3(RYR1):c.14700C>T (p.Asp4900=) rs759063883 0.00004
NM_000540.3(RYR1):c.2199G>C (p.Gly733=) rs749285937 0.00004
NM_000540.3(RYR1):c.3108C>A (p.Asp1036Glu) rs759317223 0.00004
NM_000540.3(RYR1):c.4361C>T (p.Pro1454Leu) rs149737658 0.00004
NM_000540.3(RYR1):c.5638G>A (p.Glu1880Lys) rs777733662 0.00004
NM_000540.3(RYR1):c.6274+1G>A rs1226228092 0.00004
NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met) rs118192177 0.00004
NM_000540.3(RYR1):c.7064G>A (p.Arg2355Gln) rs144526634 0.00004
NM_000540.3(RYR1):c.726-12C>G rs757598882 0.00004
NM_000540.3(RYR1):c.72C>T (p.Ser24=) rs754645461 0.00004
NM_000540.3(RYR1):c.7488G>A (p.Pro2496=) rs375997435 0.00004
NM_000540.3(RYR1):c.7689C>G (p.Thr2563=) rs781110591 0.00004
NM_000540.3(RYR1):c.8112C>T (p.Cys2704=) rs763722972 0.00004
NM_000540.3(RYR1):c.8305G>A (p.Asp2769Asn) rs566495420 0.00004
NM_000540.3(RYR1):c.9234-11T>G rs750322384 0.00004
NM_000540.3(RYR1):c.9354G>A (p.Ala3118=) rs146408926 0.00004
NM_000540.3(RYR1):c.9477C>T (p.Asp3159=) rs139409128 0.00004
NM_000540.3(RYR1):c.10053G>A (p.Pro3351=) rs774096421 0.00003
NM_000540.3(RYR1):c.10229C>T (p.Pro3410Leu) rs769196275 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.1099C>T (p.Arg367Trp) rs140037232 0.00003
NM_000540.3(RYR1):c.11193+15C>G rs370928637 0.00003
NM_000540.3(RYR1):c.11731A>G (p.Thr3911Ala) rs200622493 0.00003
NM_000540.3(RYR1):c.1211A>G (p.His404Arg) rs561546643 0.00003
NM_000540.3(RYR1):c.1218C>T (p.Thr406=) rs3745846 0.00003
NM_000540.3(RYR1):c.1227A>G (p.Leu409=) rs745659458 0.00003
NM_000540.3(RYR1):c.12840G>T (p.Ala4280=) rs1292456827 0.00003
NM_000540.3(RYR1):c.1318G>A (p.Val440Ile) rs763251588 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.13768G>A (p.Glu4590Lys) rs766518951 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.2937G>A (p.Ala979=) rs775442275 0.00003
NM_000540.3(RYR1):c.4339G>A (p.Val1447Met) rs370851779 0.00003
NM_000540.3(RYR1):c.4454+6G>A rs771877667 0.00003
NM_000540.3(RYR1):c.5120G>A (p.Arg1707His) rs371566475 0.00003
NM_000540.3(RYR1):c.5340_5341del (p.Cys1781fs) rs779723153 0.00003
NM_000540.3(RYR1):c.5920C>T (p.Arg1974Trp) rs779733902 0.00003
NM_000540.3(RYR1):c.6078G>A (p.Glu2026=) rs201310026 0.00003
NM_000540.3(RYR1):c.614G>C (p.Cys205Ser) rs201834803 0.00003
NM_000540.3(RYR1):c.6211C>T (p.Arg2071Trp) rs147441124 0.00003
NM_000540.3(RYR1):c.6892-6C>G rs774360489 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.7244G>A (p.Arg2415Gln) rs201584482 0.00003
NM_000540.3(RYR1):c.7755C>T (p.Thr2585=) rs768702294 0.00003
NM_000540.3(RYR1):c.7771C>G (p.Arg2591Gly) rs193922822 0.00003
NM_000540.3(RYR1):c.8820C>A (p.Gly2940=) rs951057994 0.00003
NM_000540.3(RYR1):c.9001-8G>A rs768611849 0.00003
NM_000540.3(RYR1):c.947G>T (p.Arg316Leu) rs193922761 0.00003
NM_000540.3(RYR1):c.9624G>T (p.Pro3208=) rs552470353 0.00003
NM_000540.3(RYR1):c.9811G>A (p.Glu3271Lys) rs773026490 0.00003
NM_000540.3(RYR1):c.9825C>T (p.Pro3275=) rs753425281 0.00003
NM_000540.3(RYR1):c.9895G>A (p.Gly3299Ser) rs372203483 0.00003
NM_000540.3(RYR1):c.10230G>A (p.Pro3410=) rs774663618 0.00002
NM_000540.3(RYR1):c.10347+1G>A rs111436401 0.00002
NM_000540.3(RYR1):c.10729C>T (p.Arg3577Trp) rs538497899 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.11443A>T (p.Met3815Leu) rs368909156 0.00002
NM_000540.3(RYR1):c.1201C>T (p.Arg401Cys) rs193922764 0.00002
NM_000540.3(RYR1):c.12187A>G (p.Met4063Val) rs181968345 0.00002
NM_000540.3(RYR1):c.12624+9A>G rs548515798 0.00002
NM_000540.3(RYR1):c.12652T>C (p.Phe4218Leu) rs1568581720 0.00002
NM_000540.3(RYR1):c.13568A>G (p.Lys4523Arg) rs762657816 0.00002
NM_000540.3(RYR1):c.14173-2A>G rs1189024951 0.00002
NM_000540.3(RYR1):c.14285C>T (p.Pro4762Leu) rs146793368 0.00002
NM_000540.3(RYR1):c.14474G>A (p.Arg4825His) rs193922875 0.00002
NM_000540.3(RYR1):c.14601C>T (p.Ser4867=) rs370469515 0.00002
NM_000540.3(RYR1):c.14817C>T (p.Asp4939=) rs193922895 0.00002
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145 0.00002
NM_000540.3(RYR1):c.14940G>A (p.Thr4980=) rs765570755 0.00002
NM_000540.3(RYR1):c.2203C>T (p.His735Tyr) rs771629253 0.00002
NM_000540.3(RYR1):c.2635G>A (p.Glu879Lys) rs746904839 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.3252C>T (p.Ser1084=) rs144164620 0.00002
NM_000540.3(RYR1):c.341G>A (p.Arg114His) rs574357386 0.00002
NM_000540.3(RYR1):c.3523G>A (p.Glu1175Lys) rs769744438 0.00002
NM_000540.3(RYR1):c.3535C>T (p.Arg1179Trp) rs763944786 0.00002
NM_000540.3(RYR1):c.3877C>A (p.Pro1293Thr) rs146407179 0.00002
NM_000540.3(RYR1):c.4507G>A (p.Gly1503Arg) rs144747878 0.00002
NM_000540.3(RYR1):c.4710C>T (p.Asn1570=) rs763113534 0.00002
NM_000540.3(RYR1):c.4764G>A (p.Pro1588=) rs531243171 0.00002
NM_000540.3(RYR1):c.4980C>T (p.Arg1660=) rs374115286 0.00002
NM_000540.3(RYR1):c.6207A>G (p.Lys2069=) rs920135778 0.00002
NM_000540.3(RYR1):c.6359T>C (p.Met2120Thr) rs398123473 0.00002
NM_000540.3(RYR1):c.6599C>T (p.Ala2200Val) rs193922791 0.00002
NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile) rs193922797 0.00002
NM_000540.3(RYR1):c.7027+4A>T rs753538619 0.00002
NM_000540.3(RYR1):c.7291G>A (p.Asp2431Asn) rs193922810 0.00002
NM_000540.3(RYR1):c.7434C>G (p.Thr2478=) rs747434152 0.00002
NM_000540.3(RYR1):c.7615-5C>T rs768008924 0.00002
NM_000540.3(RYR1):c.7855C>T (p.Leu2619=) rs762212220 0.00002
NM_000540.3(RYR1):c.8093T>C (p.Met2698Thr) rs185021599 0.00002
NM_000540.3(RYR1):c.8466G>A (p.Thr2822=) rs761622550 0.00002
NM_000540.3(RYR1):c.8843del (p.Ser2948fs) rs765921831 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.9555-4C>T rs1417337927 0.00002
NM_000540.3(RYR1):c.10154C>T (p.Ala3385Val) rs772566556 0.00001
NM_000540.3(RYR1):c.10317C>T (p.Gly3439=) rs1174927393 0.00001
NM_000540.3(RYR1):c.103T>C (p.Cys35Arg) rs193922747 0.00001
NM_000540.3(RYR1):c.10441-8T>C rs755330618 0.00001
NM_000540.3(RYR1):c.10686+4T>C rs1188156028 0.00001
NM_000540.3(RYR1):c.10768G>A (p.Glu3590Lys) rs746611627 0.00001
NM_000540.3(RYR1):c.10937+1G>C rs775682151 0.00001
NM_000540.3(RYR1):c.1100G>A (p.Arg367Gln) rs113332073 0.00001
NM_000540.3(RYR1):c.11193+2T>C rs1971785665 0.00001
NM_000540.3(RYR1):c.11194-3C>T rs758196929 0.00001
NM_000540.3(RYR1):c.11260-7T>G rs1330899688 0.00001
NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln) rs193922839 0.00001
NM_000540.3(RYR1):c.1140G>A (p.Glu380=) rs35189056 0.00001
NM_000540.3(RYR1):c.11568C>T (p.Gly3856=) rs1466248819 0.00001
NM_000540.3(RYR1):c.11590+1G>T rs113928116 0.00001
NM_000540.3(RYR1):c.11608+2T>C rs1443083095 0.00001
NM_000540.3(RYR1):c.11706A>G (p.Leu3902=) rs776123178 0.00001
NM_000540.3(RYR1):c.11708G>A (p.Arg3903Gln) rs148399313 0.00001
NM_000540.3(RYR1):c.11811G>A (p.Ser3937=) rs794727946 0.00001
NM_000540.3(RYR1):c.11838C>T (p.Gly3946=) rs758112271 0.00001
NM_000540.3(RYR1):c.12095-4G>A rs769377982 0.00001
NM_000540.3(RYR1):c.12100G>A (p.Val4034Met) rs372447264 0.00001
NM_000540.3(RYR1):c.12117C>T (p.Ile4039=) rs767024764 0.00001
NM_000540.3(RYR1):c.12219T>A (p.Ser4073=) rs764395582 0.00001
NM_000540.3(RYR1):c.12228C>T (p.Phe4076=) rs757332415 0.00001
NM_000540.3(RYR1):c.12251G>A (p.Arg4084His) rs779380542 0.00001
NM_000540.3(RYR1):c.122T>C (p.Phe41Ser) rs766407858 0.00001
NM_000540.3(RYR1):c.12700G>A (p.Val4234Met) rs193922852 0.00001
NM_000540.3(RYR1):c.12954G>A (p.Arg4318=) rs886054405 0.00001
NM_000540.3(RYR1):c.1317C>T (p.Gly439=) rs1230243590 0.00001
NM_000540.3(RYR1):c.131G>A (p.Arg44His) rs139161723 0.00001
NM_000540.3(RYR1):c.13447G>A (p.Val4483Met) rs1374937370 0.00001
NM_000540.3(RYR1):c.13525_13531dup (p.Lys4511fs) rs928989953 0.00001
NM_000540.3(RYR1):c.13599G>A (p.Lys4533=) rs1218373877 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.13747-4T>G rs1287127447 0.00001
NM_000540.3(RYR1):c.13887G>A (p.Val4629=) rs1568593906 0.00001
NM_000540.3(RYR1):c.13899G>A (p.Leu4633=) rs1280134766 0.00001
NM_000540.3(RYR1):c.14073G>A (p.Glu4691=) rs1450888449 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.14210G>A (p.Arg4737Gln) rs193922868 0.00001
NM_000540.3(RYR1):c.14304-6C>A rs794728693 0.00001
NM_000540.3(RYR1):c.14307C>T (p.Leu4769=) rs1177353484 0.00001
NM_000540.3(RYR1):c.14364C>T (p.Asn4788=) rs200927402 0.00001
NM_000540.3(RYR1):c.14378T>G (p.Leu4793Arg) rs118192179 0.00001
NM_000540.3(RYR1):c.1440G>A (p.Glu480=) rs989350448 0.00001
NM_000540.3(RYR1):c.1441-12T>C rs760987340 0.00001
NM_000540.3(RYR1):c.14512-1G>A rs1064793932 0.00001
NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile) rs118192168 0.00001
NM_000540.3(RYR1):c.14583C>A (p.Arg4861=) rs755854964 0.00001
NM_000540.3(RYR1):c.14645C>T (p.Thr4882Met) rs193922884 0.00001
NM_000540.3(RYR1):c.14697G>A (p.Gly4899=) rs770698609 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.15021G>C (p.Gln5007His) rs376293495 0.00001
NM_000540.3(RYR1):c.1559T>C (p.Leu520Pro) rs1384515505 0.00001
NM_000540.3(RYR1):c.1588C>T (p.Arg530Cys) rs757399861 0.00001
NM_000540.3(RYR1):c.1597C>T (p.Arg533Cys) rs193922768 0.00001
NM_000540.3(RYR1):c.1655G>A (p.Arg552Gln) rs772978260 0.00001
NM_000540.3(RYR1):c.168T>C (p.Asn56=) rs1266378538 0.00001
NM_000540.3(RYR1):c.1788C>T (p.His596=) rs369299704 0.00001
NM_000540.3(RYR1):c.178G>A (p.Asp60Asn) rs118192160 0.00001
NM_000540.3(RYR1):c.1951C>T (p.Arg651Ter) rs754522209 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.2037C>A (p.Thr679=) rs571569206 0.00001
NM_000540.3(RYR1):c.2113G>A (p.Gly705Arg) rs565825739 0.00001
NM_000540.3(RYR1):c.2173G>A (p.Val725Met) rs200698933 0.00001
NM_000540.3(RYR1):c.223C>T (p.Arg75Ter) rs1346649518 0.00001
NM_000540.3(RYR1):c.2251G>A (p.Val751Met) rs767667578 0.00001
NM_000540.3(RYR1):c.255G>T (p.Val85=) rs532101469 0.00001
NM_000540.3(RYR1):c.2577+1G>A rs1416605332 0.00001
NM_000540.3(RYR1):c.2577+4C>T rs749515044 0.00001
NM_000540.3(RYR1):c.2646G>A (p.Ala882=) rs375163703 0.00001
NM_000540.3(RYR1):c.2680C>A (p.Pro894Thr) rs111976711 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.2683-15C>G rs892282118 0.00001
NM_000540.3(RYR1):c.2823G>A (p.Ala941=) rs750305530 0.00001
NM_000540.3(RYR1):c.2897C>T (p.Pro966Leu) rs143179371 0.00001
NM_000540.3(RYR1):c.3196del (p.Ser1066fs) rs1377274434 0.00001
NM_000540.3(RYR1):c.3224G>A (p.Arg1075Gln) rs749040743 0.00001
NM_000540.3(RYR1):c.3253G>A (p.Gly1085Ser) rs752849270 0.00001
NM_000540.3(RYR1):c.326G>A (p.Arg109Gln) rs762278203 0.00001
NM_000540.3(RYR1):c.3301G>A (p.Val1101Met) rs145088074 0.00001
NM_000540.3(RYR1):c.3362A>G (p.Tyr1121Cys) rs756138074 0.00001
NM_000540.3(RYR1):c.3381+5G>A rs199691436 0.00001
NM_000540.3(RYR1):c.3424del (p.Trp1142fs) rs1168352165 0.00001
NM_000540.3(RYR1):c.3431C>T (p.Pro1144Leu) rs201940876 0.00001
NM_000540.3(RYR1):c.3686_3699del (p.Met1229fs) rs774319202 0.00001
NM_000540.3(RYR1):c.3688C>T (p.Gln1230Ter) rs1186905126 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.408G>A (p.Leu136=) rs756918282 0.00001
NM_000540.3(RYR1):c.4160+1G>A rs113460156 0.00001
NM_000540.3(RYR1):c.4225C>T (p.Arg1409Ter) rs587784376 0.00001
NM_000540.3(RYR1):c.4230C>T (p.Leu1410=) rs750872878 0.00001
NM_000540.3(RYR1):c.4482G>A (p.Val1494=) rs540264243 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.4708-14C>G rs371783666 0.00001
NM_000540.3(RYR1):c.4708-5C>G rs1036598529 0.00001
NM_000540.3(RYR1):c.4777C>T (p.Arg1593Trp) rs1229854214 0.00001
NM_000540.3(RYR1):c.4782G>A (p.Leu1594=) rs1064797239 0.00001
NM_000540.3(RYR1):c.488G>A (p.Arg163His) rs193922753 0.00001
NM_000540.3(RYR1):c.4934G>A (p.Arg1645Gln) rs193922778 0.00001
NM_000540.3(RYR1):c.5019C>T (p.Cys1673=) rs543026464 0.00001
NM_000540.3(RYR1):c.5115_5122del (p.Leu1706fs) rs1248355799 0.00001
NM_000540.3(RYR1):c.5119C>T (p.Arg1707Cys) rs2514227330 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.529C>T (p.Arg177Cys) rs193922757 0.00001
NM_000540.3(RYR1):c.530G>A (p.Arg177His) rs750303767 0.00001
NM_000540.3(RYR1):c.5484C>T (p.Asp1828=) rs775744847 0.00001
NM_000540.3(RYR1):c.5548-3T>C rs370111319 0.00001
NM_000540.3(RYR1):c.5548-9G>T rs776320867 0.00001
NM_000540.3(RYR1):c.5736G>A (p.Glu1912=) rs753416949 0.00001
NM_000540.3(RYR1):c.5908C>T (p.Gln1970Ter) rs2514251900 0.00001
NM_000540.3(RYR1):c.5955C>T (p.Ser1985=) rs1969490927 0.00001
NM_000540.3(RYR1):c.6016-5C>G rs369996114 0.00001
NM_000540.3(RYR1):c.6128-3C>T rs775568216 0.00001
NM_000540.3(RYR1):c.624C>T (p.Cys208=) rs746914281 0.00001
NM_000540.3(RYR1):c.6279C>A (p.Ser2093=) rs1377179094 0.00001
NM_000540.3(RYR1):c.6301A>G (p.Met2101Val) rs531823936 0.00001
NM_000540.3(RYR1):c.631+1G>T rs374937694 0.00001
NM_000540.3(RYR1):c.6366C>T (p.Ser2122=) rs946992657 0.00001
NM_000540.3(RYR1):c.6388G>A (p.Gly2130Arg) rs193922789 0.00001
NM_000540.3(RYR1):c.643G>A (p.Gly215Arg) rs1393197844 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.6584C>T (p.Pro2195Leu) rs772003357 0.00001
NM_000540.3(RYR1):c.6664-2A>G rs1346257891 0.00001
NM_000540.3(RYR1):c.6664-5C>G rs867630021 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.6797-1G>A rs1221087983 0.00001
NM_000540.3(RYR1):c.6797-6C>A rs1405203955 0.00001
NM_000540.3(RYR1):c.6891+2T>C rs1455553231 0.00001
NM_000540.3(RYR1):c.7007G>A (p.Arg2336His) rs112563513 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.7036G>A (p.Val2346Met) rs193922799 0.00001
NM_000540.3(RYR1):c.7043A>G (p.Glu2348Gly) rs193922801 0.00001
NM_000540.3(RYR1):c.7063C>T (p.Arg2355Trp) rs193922803 0.00001
NM_000540.3(RYR1):c.7075C>T (p.Arg2359Trp) rs769482889 0.00001
NM_000540.3(RYR1):c.7199A>G (p.Asp2400Gly) rs976108591 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.7355G>A (p.Arg2452Gln) rs193922815 0.00001
NM_000540.3(RYR1):c.7360C>T (p.Arg2454Cys) rs193922816 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.7373G>A (p.Arg2458His) rs121918594 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.7446T>C (p.Asp2482=) rs374058542 0.00001
NM_000540.3(RYR1):c.7608G>A (p.Leu2536=) rs201686887 0.00001
NM_000540.3(RYR1):c.7614G>A (p.Thr2538=) rs1207360336 0.00001
NM_000540.3(RYR1):c.7782G>C (p.Ser2594=) rs769096297 0.00001
NM_000540.3(RYR1):c.7826C>T (p.Ser2609Leu) rs747045754 0.00001
NM_000540.3(RYR1):c.7834A>C (p.Arg2612=) rs1242518055 0.00001
NM_000540.3(RYR1):c.7836-6C>T rs780269941 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.7896C>A (p.Ile2632=) rs201090618 0.00001
NM_000540.3(RYR1):c.798C>T (p.Ile266=) rs764527957 0.00001
NM_000540.3(RYR1):c.8026C>T (p.Arg2676Trp) rs193922826 0.00001
NM_000540.3(RYR1):c.8115C>T (p.Ala2705=) rs761249404 0.00001
NM_000540.3(RYR1):c.8136C>T (p.Pro2712=) rs879058545 0.00001
NM_000540.3(RYR1):c.8232-1G>A rs1355781735 0.00001
NM_000540.3(RYR1):c.8290G>A (p.Glu2764Lys) rs193922829 0.00001
NM_000540.3(RYR1):c.8291A>G (p.Glu2764Gly) rs1403616422 0.00001
NM_000540.3(RYR1):c.8310+1G>T rs1970380121 0.00001
NM_000540.3(RYR1):c.8311-4C>T rs575528695 0.00001
NM_000540.3(RYR1):c.838C>T (p.Arg280Ter) rs1278804520 0.00001
NM_000540.3(RYR1):c.848A>G (p.His283Arg) rs1966899604 0.00001
NM_000540.3(RYR1):c.8617-5C>T rs201663014 0.00001
NM_000540.3(RYR1):c.8638G>A (p.Glu2880Lys) rs112772310 0.00001
NM_000540.3(RYR1):c.8816G>A (p.Arg2939Lys) rs118192125 0.00001
NM_000540.3(RYR1):c.8883G>A (p.Gln2961=) rs1600856689 0.00001
NM_000540.3(RYR1):c.9001-2A>G rs774119942 0.00001
NM_000540.3(RYR1):c.9009C>T (p.Leu3003=) rs748143185 0.00001
NM_000540.3(RYR1):c.9096T>A (p.Ser3032=) rs144067910 0.00001
NM_000540.3(RYR1):c.9123-12C>G rs1238566593 0.00001
NM_000540.3(RYR1):c.9123-4T>G rs1346638416 0.00001
NM_000540.3(RYR1):c.9157C>T (p.Arg3053Ter) rs1374378105 0.00001
NM_000540.3(RYR1):c.9413C>T (p.Pro3138Leu) rs762652935 0.00001
NM_000540.3(RYR1):c.9472+1G>A rs776697656 0.00001
NM_000540.3(RYR1):c.9571G>A (p.Gly3191Arg) rs756331568 0.00001
NM_000540.3(RYR1):c.9605C>T (p.Pro3202Leu) rs754002399 0.00001
NM_000540.3(RYR1):c.9623C>T (p.Pro3208Leu) rs758210285 0.00001
NM_000540.3(RYR1):c.9685+8G>T rs752615788 0.00001
NM_000540.3(RYR1):c.9732G>A (p.Pro3244=) rs764290955 0.00001
NM_000540.3(RYR1):c.9810C>T (p.Ile3270=) rs767400168 0.00001
NM_000540.3(RYR1):c.983G>A (p.Arg328Gln) rs755875230 0.00001
NM_000069.3(CACNA1S):c.2700G>T (p.Arg900Ser) rs2102582533
NM_000540.3(RYR1):c.10041C>T (p.Ser3347=) rs1379806132
NM_000540.3(RYR1):c.10097G>T (p.Arg3366Leu) rs137932199
NM_000540.3(RYR1):c.10171G>T (p.Glu3391Ter) rs1216966090
NM_000540.3(RYR1):c.10188C>T (p.Asp3396=) rs2229145
NM_000540.3(RYR1):c.1021G>A (p.Gly341Arg) rs121918592
NM_000540.3(RYR1):c.10259+10G>A rs187018043
NM_000540.3(RYR1):c.10263G>A (p.Ala3421=) rs778171066
NM_000540.3(RYR1):c.10440+1G>A rs2514464325
NM_000540.3(RYR1):c.10467G>T (p.Ser3489=) rs751798987
NM_000540.3(RYR1):c.10501dup (p.Asp3501fs) rs1568537774
NM_000540.3(RYR1):c.10564C>A (p.Leu3522Met) rs200144997
NM_000540.3(RYR1):c.10615del (p.Arg3539fs) rs2514477883
NM_000540.3(RYR1):c.10656T>C (p.Phe3552=) rs1971495978
NM_000540.3(RYR1):c.10689C>G (p.Val3563=) rs1442635383
NM_000540.3(RYR1):c.10700del (p.Pro3567fs) rs1971528310
NM_000540.3(RYR1):c.10740G>A (p.Pro3580=) rs2514489025
NM_000540.3(RYR1):c.10803C>A (p.Ala3601=) rs141542477
NM_000540.3(RYR1):c.10824+13G>A rs756468318
NM_000540.3(RYR1):c.10824+2T>G rs111446464
NM_000540.3(RYR1):c.10938-6del rs2514496791
NM_000540.3(RYR1):c.10938-8C>A rs1314510894
NM_000540.3(RYR1):c.10946dup (p.Cys3650fs) rs2514497007
NM_000540.3(RYR1):c.11049GGA[4] (p.Glu3689del) rs760784102
NM_000540.3(RYR1):c.1108G>C (p.Val370Leu) rs537344365
NM_000540.3(RYR1):c.11126C>T (p.Ala3709Val) rs1555791418
NM_000540.3(RYR1):c.11132C>G (p.Thr3711Arg) rs375915752
NM_000540.3(RYR1):c.11132C>T (p.Thr3711Met) rs375915752
NM_000540.3(RYR1):c.1114AAG[2] (p.Lys374del) rs745569223
NM_000540.3(RYR1):c.11159_11162dup (p.Tyr3722fs) rs2145736348
NM_000540.3(RYR1):c.11194-8dup rs2514516962
NM_000540.3(RYR1):c.1123-3T>C
NM_000540.3(RYR1):c.11315G>T (p.Arg3772Leu) rs193922839
NM_000540.3(RYR1):c.11325C>T (p.Ala3775=) rs1971892935
NM_000540.3(RYR1):c.11360-11_11360-10del rs1971910520
NM_000540.3(RYR1):c.11591-5C>G rs1041327076
NM_000540.3(RYR1):c.11608+1G>C rs1354044963
NM_000540.3(RYR1):c.11690-3del rs2514574248
NM_000540.3(RYR1):c.11778+1G>T rs1555794209
NM_000540.3(RYR1):c.11907+8G>A rs886054402
NM_000540.3(RYR1):c.11913C>G (p.Pro3971=) rs2514578977
NM_000540.3(RYR1):c.11929C>T (p.Gln3977Ter) rs1447117024
NM_000540.3(RYR1):c.11947C>T (p.Arg3983Cys) rs1600989183
NM_000540.3(RYR1):c.11956del (p.Asp3986fs) rs2514579287
NM_000540.3(RYR1):c.11958C>G (p.Asp3986Glu) rs193922842
NM_000540.3(RYR1):c.11969G>T (p.Gly3990Val) rs193922843
NM_000540.3(RYR1):c.1198G>A (p.Ala400Thr) rs777016690
NM_000540.3(RYR1):c.1201C>A (p.Arg401Ser) rs193922764
NM_000540.3(RYR1):c.1202G>T (p.Arg401Leu) rs193922766
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.1209C>G (p.Ile403Met) rs118192116
NM_000540.3(RYR1):c.12149C>A (p.Ser4050Tyr) rs193922844
NM_000540.3(RYR1):c.12204G>A (p.Lys4068=) rs2514600630
NM_000540.3(RYR1):c.12319del (p.Ile4107fs) rs754572007
NM_000540.3(RYR1):c.12526_12527insGCCT (p.Tyr4176fs) rs2145831520
NM_000540.3(RYR1):c.12532G>A (p.Gly4178Ser) rs1057518885
NM_000540.3(RYR1):c.12544_12570del (p.Ile4182_Glu4190del) rs1238215145
NM_000540.3(RYR1):c.12625-12C>G rs2514673677
NM_000540.3(RYR1):c.12666C>T (p.Asn4222=) rs764655128
NM_000540.3(RYR1):c.1267_1276dup (p.Gly426fs) rs1967149532
NM_000540.3(RYR1):c.12700G>C (p.Val4234Leu) rs193922852
NM_000540.3(RYR1):c.12990C>T (p.Thr4330=) rs184450380
NM_000540.3(RYR1):c.130C>T (p.Arg44Cys) rs193922748
NM_000540.3(RYR1):c.13438-6C>G rs756003242
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>T (p.Pro4522Leu) rs145167688
NM_000540.3(RYR1):c.13690C>T (p.Arg4564Trp) rs753208767
NM_000540.3(RYR1):c.13892A>G (p.Tyr4631Cys) rs1568593922
NM_000540.3(RYR1):c.13912G>A (p.Gly4638Ser) rs118192136
NM_000540.3(RYR1):c.14051T>C (p.Phe4684Ser) rs193922864
NM_000540.3(RYR1):c.14173-9C>G rs2514738228
NM_000540.3(RYR1):c.14244A>C (p.Thr4748=) rs1599660141
NM_000540.3(RYR1):c.14364+1G>A rs1974046221
NM_000540.3(RYR1):c.14364+5_14364+31dup rs2145889339
NM_000540.3(RYR1):c.14365-6C>T rs1064797242
NM_000540.3(RYR1):c.14385G>A (p.Trp4795Ter) rs565173276
NM_000540.3(RYR1):c.14387A>G (p.Tyr4796Cys) rs118192167
NM_000540.3(RYR1):c.1440+2T>G rs1555767403
NM_000540.3(RYR1):c.14423T>A (p.Phe4808Tyr) rs1274780855
NM_000540.3(RYR1):c.14473C>T (p.Arg4825Cys) rs118192180
NM_000540.3(RYR1):c.14477C>T (p.Thr4826Ile) rs121918595
NM_000540.3(RYR1):c.14497C>T (p.His4833Tyr) rs193922876
NM_000540.3(RYR1):c.14512C>G (p.Leu4838Val) rs193922878
NM_000540.3(RYR1):c.14537C>T (p.Ala4846Val) rs118192143
NM_000540.3(RYR1):c.14559C>T (p.Thr4853=) rs570469685
NM_000540.3(RYR1):c.14582G>A (p.Arg4861His) rs63749869
NM_000540.3(RYR1):c.14647-1447_14647-1446del rs1275854388
NM_000540.3(RYR1):c.14647-3C>T rs1974401494
NM_000540.3(RYR1):c.14647-3_14647del rs1568611362
NM_000540.3(RYR1):c.14677C>T (p.Arg4893Trp) rs118192150
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr) rs118192170
NM_000540.3(RYR1):c.14731G>A (p.Glu4911Lys) rs886044196
NM_000540.3(RYR1):c.14804-1G>T rs193922894
NM_000540.3(RYR1):c.14809A>G (p.Ile4937Val) rs2145917369
NM_000540.3(RYR1):c.14869-14C>G rs776027265
NM_000540.3(RYR1):c.14929G>C (p.Glu4977Gln) rs200777598
NM_000540.3(RYR1):c.14938_14939del (p.Thr4980fs) rs1568613455
NM_000540.3(RYR1):c.15030T>A (p.Tyr5010Ter) rs1064797243
NM_000540.3(RYR1):c.1565A>C (p.Tyr522Ser) rs118192162
NM_000540.3(RYR1):c.1577-5C>A rs778100574
NM_000540.3(RYR1):c.1615T>C (p.Phe539Leu) rs193922769
NM_000540.3(RYR1):c.165+1G>A rs1388577237
NM_000540.3(RYR1):c.1654C>T (p.Arg552Trp) rs193922770
NM_000540.3(RYR1):c.166-3dup rs745926203
NM_000540.3(RYR1):c.1739_1742dup (p.His581fs) rs193922771
NM_000540.3(RYR1):c.1767G>A (p.Leu589=) rs2514028225
NM_000540.3(RYR1):c.1841G>T (p.Arg614Leu) rs193922772
NM_000540.3(RYR1):c.1859T>A (p.Ile620Asn) rs1568450514
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.2121C>T (p.Gly707=) rs146104858
NM_000540.3(RYR1):c.212C>A (p.Ser71Tyr) rs118192113
NM_000540.3(RYR1):c.2168-3dup rs1555770306
NM_000540.3(RYR1):c.2195del (p.Pro732fs) rs1568452917
NM_000540.3(RYR1):c.2224G>A (p.Val742Met) rs1364240080
NM_000540.3(RYR1):c.2427_2446dup (p.Pro816fs) rs1460246826
NM_000540.3(RYR1):c.2485C>T (p.Arg829Ter) rs778320565
NM_000540.3(RYR1):c.2501G>A (p.Arg834Gln) rs1314923827
NM_000540.3(RYR1):c.2505del (p.Pro836fs) rs797045932
NM_000540.3(RYR1):c.2658C>A (p.Ile886=) rs148094797
NM_000540.3(RYR1):c.2662C>T (p.Gln888Ter) rs141838633
NM_000540.3(RYR1):c.2682G>A (p.Pro894=) rs919322708
NM_000540.3(RYR1):c.2787-9C>G rs375167590
NM_000540.3(RYR1):c.2984G>A (p.Trp995Ter) rs1440262870
NM_000540.3(RYR1):c.2989C>T (p.Arg997Ter) rs758925580
NM_000540.3(RYR1):c.3046C>T (p.Arg1016Ter) rs759085500
NM_000540.3(RYR1):c.3291C>T (p.Gly1097=) rs1234999215
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.3451dup (p.Met1151fs) rs2145461642
NM_000540.3(RYR1):c.3494G>A (p.Gly1165Asp) rs559581937
NM_000540.3(RYR1):c.3702C>T (p.Thr1234=) rs1600720232
NM_000540.3(RYR1):c.3713_3715dup (p.Ser1238dup) rs761789667
NM_000540.3(RYR1):c.3799C>A (p.Pro1267Thr) rs564495912
NM_000540.3(RYR1):c.3800C>A (p.Pro1267His) rs150495044
NM_000540.3(RYR1):c.3800C>G (p.Pro1267Arg) rs150495044
NM_000540.3(RYR1):c.38T>G (p.Leu13Arg) rs193922744
NM_000540.3(RYR1):c.3930A>C (p.Ala1310=) rs907198537
NM_000540.3(RYR1):c.3964_3982dup (p.Asp1328fs) rs1281542312
NM_000540.3(RYR1):c.4026C>T (p.Ser1342=) rs182004703
NM_000540.3(RYR1):c.4074G>C (p.Gly1358=) rs372178862
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.4294-1G>C rs2514176735
NM_000540.3(RYR1):c.4314C>T (p.Val1438=) rs2514176950
NM_000540.3(RYR1):c.4454+5C>T rs374116226
NM_000540.3(RYR1):c.447G>A (p.Met149Ile) rs772652844
NM_000540.3(RYR1):c.4537_4540dup (p.Val1514fs)
NM_000540.3(RYR1):c.455C>A (p.Ala152Asp) rs1555763641
NM_000540.3(RYR1):c.46-4G>A rs201094741
NM_000540.3(RYR1):c.4621-9_4621-7del rs1413000730
NM_000540.3(RYR1):c.471T>A (p.Ser157=) rs140573900
NM_000540.3(RYR1):c.479A>G (p.Glu160Gly) rs193922752
NM_000540.3(RYR1):c.4875_4879dup (p.Val1627fs) rs758867047
NM_000540.3(RYR1):c.4878C>T (p.Ala1626=) rs369466056
NM_000540.3(RYR1):c.487C>T (p.Arg163Cys) rs118192161
NM_000540.3(RYR1):c.488G>T (p.Arg163Leu) rs193922753
NM_000540.3(RYR1):c.4935-1G>C rs2514225496
NM_000540.3(RYR1):c.5005T>C (p.Tyr1669His) rs1313713863
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.5121C>T (p.Arg1707=) rs749086771
NM_000540.3(RYR1):c.5180G>A (p.Arg1727His)
NM_000540.3(RYR1):c.5306C>T (p.Thr1769Ile) rs1600772418
NM_000540.3(RYR1):c.5340dup (p.Cys1781fs) rs1969271215
NM_000540.3(RYR1):c.5352C>A (p.Ala1784=) rs373382967
NM_000540.3(RYR1):c.537+12C>A rs779869638
NM_000540.3(RYR1):c.5487del (p.Val1830fs) rs887506743
NM_000540.3(RYR1):c.5628GGA[2] (p.Glu1878del) rs371047178
NM_000540.3(RYR1):c.5665GAG[2] (p.Glu1891del) rs559371263
NM_000540.3(RYR1):c.5723A>G (p.Lys1908Arg) rs1214096526
NM_000540.3(RYR1):c.5749G>T (p.Glu1917Ter) rs781075511
NM_000540.3(RYR1):c.5925C>A (p.Ser1975Arg) rs141689968
NM_000540.3(RYR1):c.5989G>A (p.Glu1997Lys) rs1366464512
NM_000540.3(RYR1):c.5995C>T (p.Arg1999Cys) rs767508472
NM_000540.3(RYR1):c.6023T>C (p.Met2008Thr) rs199947661
NM_000540.3(RYR1):c.6031C>T (p.Gln2011Ter) rs1385985785
NM_000540.3(RYR1):c.6128-13T>G rs1969594703
NM_000540.3(RYR1):c.6128-1G>A rs2514264521
NM_000540.3(RYR1):c.6220AAG[2] (p.Lys2076del) rs913794924
NM_000540.3(RYR1):c.6229_6232del (p.Glu2077fs) rs2514265191
NM_000540.3(RYR1):c.6275-11C>G rs766560974
NM_000540.3(RYR1):c.6353G>C (p.Arg2118Pro) rs201649680
NM_000540.3(RYR1):c.6357C>T (p.Ala2119=) rs2514274549
NM_000540.3(RYR1):c.6469del (p.Glu2157fs) rs2514275843
NM_000540.3(RYR1):c.6488G>A (p.Arg2163His) rs118192163
NM_000540.3(RYR1):c.6502G>A (p.Val2168Met) rs118192176
NM_000540.3(RYR1):c.6502G>C (p.Val2168Leu) rs118192176
NM_000540.3(RYR1):c.6612C>G (p.His2204Gln) rs141646642
NM_000540.3(RYR1):c.663C>T (p.Leu221=) rs761319979
NM_000540.3(RYR1):c.6664-10C>G rs1315255373
NM_000540.3(RYR1):c.6710G>A (p.Cys2237Tyr) rs2145586397
NM_000540.3(RYR1):c.6757C>T (p.His2253Tyr) rs917523269
NM_000540.3(RYR1):c.6797-3C>T rs766633897
NM_000540.3(RYR1):c.6806dup (p.Ser2270fs) rs886041380
NM_000540.3(RYR1):c.680A>T (p.Asp227Val) rs193922760
NM_000540.3(RYR1):c.6823G>A (p.Val2275Met) rs756847750
NM_000540.3(RYR1):c.6904C>T (p.Leu2302=) rs886042146
NM_000540.3(RYR1):c.7028-11C>G rs369342449
NM_000540.3(RYR1):c.7035C>A (p.Ser2345Arg) rs1448949048
NM_000540.3(RYR1):c.7039GAG[1] (p.Glu2348del) rs121918596
NM_000540.3(RYR1):c.7048G>A (p.Ala2350Thr) rs193922802
NM_000540.3(RYR1):c.7060G>A (p.Val2354Met) rs746971794
NM_000540.3(RYR1):c.7084G>A (p.Glu2362Lys) rs762401851
NM_000540.3(RYR1):c.7089C>G (p.Cys2363Trp) rs2228071
NM_000540.3(RYR1):c.7090T>G (p.Phe2364Val) rs193922805
NM_000540.3(RYR1):c.7107G>A (p.Arg2369=) rs2145600619
NM_000540.3(RYR1):c.7112A>G (p.Glu2371Gly) rs2145600668
NM_000540.3(RYR1):c.7124G>C (p.Gly2375Ala) rs193922807
NM_000540.3(RYR1):c.7140C>T (p.Ile2380=) rs573431795
NM_000540.3(RYR1):c.7215-7C>G rs1452325373
NM_000540.3(RYR1):c.7261G>A (p.Ala2421Thr) rs193922808
NM_000540.3(RYR1):c.7291G>T (p.Asp2431Tyr) rs193922810
NM_000540.3(RYR1):c.7302A>G (p.Gly2434=) rs978688752
NM_000540.3(RYR1):c.7303C>T (p.Arg2435Cys) rs1970033550
NM_000540.3(RYR1):c.7304G>A (p.Arg2435His) rs28933396
NM_000540.3(RYR1):c.7304G>T (p.Arg2435Leu) rs28933396
NM_000540.3(RYR1):c.7315G>A (p.Glu2439Lys) rs1568501702
NM_000540.3(RYR1):c.7354C>T (p.Arg2452Trp) rs118192124
NM_000540.3(RYR1):c.7358T>C (p.Ile2453Thr) rs118192123
NM_000540.3(RYR1):c.742G>A (p.Gly248Arg) rs1801086
NM_000540.3(RYR1):c.742G>T (p.Gly248Trp) rs1801086
NM_000540.3(RYR1):c.7522C>G (p.Arg2508Gly) rs118192178
NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys) rs118192178
NM_000540.3(RYR1):c.7523G>A (p.Arg2508His) rs193922818
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.7615-11del rs918526484
NM_000540.3(RYR1):c.7668G>A (p.Leu2556=)
NM_000540.3(RYR1):c.7680G>T (p.Pro2560=) rs752993876
NM_000540.3(RYR1):c.7743T>C (p.Ser2581=) rs1477392994
NM_000540.3(RYR1):c.776G>A (p.Trp259Ter) rs2513988028
NM_000540.3(RYR1):c.7775dup (p.Arg2593fs) rs1281875506
NM_000540.3(RYR1):c.7806C>A (p.Val2602=) rs1487018944
NM_000540.3(RYR1):c.7835+5_7835+26dup rs762183772
NM_000540.3(RYR1):c.7836-2A>G rs1406317092
NM_000540.3(RYR1):c.7878G>C (p.Leu2626=) rs148907377
NM_000540.3(RYR1):c.7927-4C>A rs2514351002
NM_000540.3(RYR1):c.7927-7C>T rs886054395
NM_000540.3(RYR1):c.7954dup (p.Trp2652fs) rs1600842678
NM_000540.3(RYR1):c.8046_8064dup (p.Lys2689delinsLeuTer) rs1970341946
NM_000540.3(RYR1):c.8067+1G>A rs2514351792
NM_000540.3(RYR1):c.8196del (p.Gly2733fs) rs1600844997
NM_000540.3(RYR1):c.821G>A (p.Arg274His) rs368711923
NM_000540.3(RYR1):c.8342_8343del (p.Ile2781fs) rs758580075
NM_000540.3(RYR1):c.8394A>T (p.Ser2798=) rs2514358771
NM_000540.3(RYR1):c.8463G>A (p.Trp2821Ter) rs1057518773
NM_000540.3(RYR1):c.8501C>G (p.Thr2834Arg) rs555470100
NM_000540.3(RYR1):c.8556A>T (p.Arg2852=) rs2514365738
NM_000540.3(RYR1):c.8580dup (p.Asp2861fs) rs757481998
NM_000540.3(RYR1):c.8692+1G>T rs1057523844
NM_000540.3(RYR1):c.873_874del (p.Leu292fs) rs2513994983
NM_000540.3(RYR1):c.8746A>T (p.Lys2916Ter) rs1232312472
NM_000540.3(RYR1):c.8808G>T (p.Ala2936=) rs747783902
NM_000540.3(RYR1):c.8859G>A (p.Lys2953=) rs762775035
NM_000540.3(RYR1):c.8888T>C (p.Leu2963Pro) rs756870293
NM_000540.3(RYR1):c.897G>C (p.Val299=) rs76854339
NM_000540.3(RYR1):c.9001-15C>A rs372702492
NM_000540.3(RYR1):c.9103G>C (p.Glu3035Gln) rs1053579438
NM_000540.3(RYR1):c.9123-14T>G rs2145659049
NM_000540.3(RYR1):c.9168_9169del (p.Phe3057fs) rs1555787058
NM_000540.3(RYR1):c.9215C>T (p.Ala3072Val) rs1970754416
NM_000540.3(RYR1):c.9310G>A (p.Glu3104Lys) rs193922832
NM_000540.3(RYR1):c.9473-7C>G rs768275402
NM_000540.3(RYR1):c.9499C>T (p.Arg3167Ter) rs1171637302
NM_000540.3(RYR1):c.9513T>C (p.Ser3171=) rs1568524980
NM_000540.3(RYR1):c.9554+1G>A rs2514419722
NM_000540.3(RYR1):c.9579C>T (p.Cys3193=) rs587784379
NM_000540.3(RYR1):c.9650C>G (p.Ser3217Cys) rs1283174775
NM_000540.3(RYR1):c.9726C>T (p.Asp3242=) rs1971019633
NM_000540.3(RYR1):c.97A>G (p.Lys33Glu) rs193922746
NM_000540.3(RYR1):c.982C>T (p.Arg328Trp) rs193922762
NM_000540.3(RYR1):c.9885C>G (p.Ala3295=) rs776468955
NM_000540.3(RYR1):c.9905dup (p.Pro3303fs) rs749656679
NM_001042723.1(RYR1):c.5140_5142del (p.Leu1714del) rs1438501767

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